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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_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_ORegAnno_bin	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_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	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
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	19480348	19480349	+	Missense_Mutation	DNP	GC	GC	TA																															cagcggcacccctgtagtttGctggacacagcacaccaagc																										TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:19480348_19480349GC>TA	ENST00000375254.3	-	45	6570_6571	c.6543_6544GC>TA	c.(6541-6546)caGCaa>caTAaa	p.2181_2182QQ>HK	UBR4_ENST00000375226.2_Missense_Mutation_p.2181_2182QQ>HK|UBR4_ENST00000375217.2_Missense_Mutation_p.2181_2182QQ>HK|UBR4_ENST00000375267.2_Missense_Mutation_p.2181_2182QQ>HK	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2181					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)		CCTGTAGTTTGCTGGACACAGC	0.495																																						.											0																																										SO:0001583	missense	23352			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.6543_6544delinsTA	1.37:g.19480348_19480349delinsTA	ENSP00000364403:p.Q2181_Q2182delinsHK		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	DNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.495	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		TA	19480349	GC	TA	19480348	3	4	1	1	0	0	0	0	1	0	0	0	16901	1328	46	5	9255	5	UBR4	1	19480348	Missense_Mutation	DNP	GC	TCGA-KL-8323-01A-21D-2310-10		19480348	229770273	1	1											
AIM1L	55057	ucsc.edu	37	chr1	26664510	26664510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagactcttaccctgggcTcccctggcttctccacactt	5	11	6	19	0	2	1	0	0	2	1	4	1	3	1	5	2	1	2	5	2	1	3			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:26664510T>C	ENST00000308182.5	-	7	794	c.365A>G	c.(364-366)gAg>gGg	p.E122G	AIM1L_ENST00000527815.1_Missense_Mutation_p.E293G|AIM1L_ENST00000522993.1_5'UTR			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	122							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)		TACCCTGGGCTCCCCTGGCTT	0.577																																						.											0													48	39	42					1																	26664510		2203	4300	6503	SO:0001583	missense	55057					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.365A>G	1.37:g.26664510T>C	ENSP00000310435:p.Glu122Gly		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37		.	.	.	.	.	.	.	.	.	.	T	26.8	4.768605	0.90020	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.76709	-1.04;-1.01	5.13	3.98	0.46160	Beta/gamma crystallin (1);Gamma-crystallin-related (1);	0.303860	0.35040	N	0.003481	D	0.84037	0.5384	M	0.76727	2.345	0.80722	D	1	D;D	0.63880	0.984;0.993	P;P	0.61328	0.829;0.887	T	0.83285	-0.0036	10	0.49607	T	0.09	.	9.4283	0.38595	0.159:0.0:0.0:0.841	.	39;122	Q9NTH7;Q8N1P7	.;AIM1L_HUMAN	G	293;122	ENSP00000433931:E293G;ENSP00000310435:E122G	ENSP00000310435:E122G	E	-	2	0	AIM1L	26537097	0.988000	0.35896	0.997000	0.53966	0.978000	0.69477	2.987000	0.49378	0.939000	0.37446	0.533000	0.62120	GAG		0.577	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		C	26664510	T	C	26664510	3	2	1	1	0	0	0	0	1	0	0	0	431	1551	54	2	1537	2	AIM1L	1	26664510	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	7184162	26664510	222586111	2	2											
ATF6	22926	ucsc.edu	37	chr1	161790871	161790871	+	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	ttcctttagaaccagaggctTaaagtccctagtccaaagcg	12	10	8	11	1	0	2	0	0	0	2	3	2	3	2	4	1	2	1	4	1	6	5			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:161790871T>C	ENST00000367942.3	+	9	1174	c.1107T>C	c.(1105-1107)ctT>ctC	p.L369L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	369	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.			NQRL -> LRNS (in Ref. 5; no nucleotide entry). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	ACCAGAGGCTTAAAGTCCCTA	0.343																																						.											0													148	151	150					1																	161790871		2203	4300	6503	SO:0001819	synonymous_variant	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1107T>C	1.37:g.161790871T>C			O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	CCDS1235.1																																																																																				0.343	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		C	161790871	T	C	161790871	2	2	1	1	0	0	0	0	0	0	0	1	1084	1741	61	4		4	ATF6	1	161790871	Silent	SNP	T	TCGA-KL-8323-01A-21D-2310-10	135126361	161790871	87459750	3	3											
RC3H1	149041	broad.mit.edu	37	chr1	173912597	173912597	+	Missense_Mutation	SNP	T	T	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	caccatactcagttcccgtgTtctcttcccgatttcccttt	5	16	4	16	2	2	0	1	0	1	0	6	1	5	0	4	0	1	2	4	0	1	6			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:173912597T>C	ENST00000367696.2	-	18	3469	c.3118A>G	c.(3118-3120)Aca>Gca	p.T1040A	RC3H1_ENST00000367694.2_Missense_Mutation_p.T1031A|RC3H1_ENST00000258349.4_Missense_Mutation_p.T1040A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1040					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGTTCCCGTGTTCTCTTCCCG	0.498																																						.											0													230	214	219					1																	173912597		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3118A>G	1.37:g.173912597T>C	ENSP00000356669:p.Thr1040Ala		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172503	0.57584	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.47869	0.89;0.89;0.83	5.24	5.24	0.73138	.	0.157302	0.56097	D	0.000030	T	0.40595	0.1123	L	0.50333	1.59	0.51767	D	0.999934	P;P;P;P	0.45126	0.767;0.767;0.851;0.767	B;B;P;B	0.47402	0.344;0.344;0.546;0.344	T	0.41734	-0.9492	10	0.56958	D	0.05	-11.204	15.1378	0.72583	0.0:0.0:0.0:1.0	.	1040;1031;1031;1040	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	A	1040;1040;1031	ENSP00000356669:T1040A;ENSP00000258349:T1040A;ENSP00000356667:T1031A	ENSP00000258349:T1040A	T	-	1	0	RC3H1	172179220	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.837000	0.69381	1.978000	0.57642	0.533000	0.62120	ACA		0.498	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		C	173912597	T	C	173912597	3	2	1	1	0	0	0	0	1	0	0	0	13166	1725	60	2	295	2	RC3H1	1	173912597	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	12121726	173912597	75338024	4	4											
RASAL2	9462	hgsc.bcm.edu	37	chr1	178421771	178421771	+	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	ttgccaaggtcattcagaacCtggccaactttgccaagtag	11	10	9	11	0	2	1	2	0	0	1	2	1	2	1	4	2	4	1	4	2	5	4			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:178421771C>T	ENST00000462775.1	+	9	1674	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	RASAL2_ENST00000367649.3_Silent_p.L665L|RASAL2_ENST00000448150.3_Silent_p.L647L	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	517	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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						CATTCAGAACCTGGCCAACTT	0.433																																						.											0													117	107	110					1																	178421771		2203	4299	6502	SO:0001819	synonymous_variant	9462			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.1549C>T	1.37:g.178421771C>T			F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	8.494	0.862639	0.17178	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.15	3.29	0.37713	.	.	.	.	.	T	0.59293	0.2183	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53351	-0.8451	4	.	.	.	.	9.6673	0.39992	0.0:0.7753:0.0:0.2247	.	.	.	.	L	67	.	.	P	+	2	0	RASAL2	176688394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.876000	0.63079	0.567000	0.29293	0.557000	0.71058	CCT		0.433	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		T	178421771	C	T	178421771	2	4	1	1	0	0	0	0	0	0	0	1	13064	680	24	4		4	RASAL2	1	178421771	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10	4509174	178421771	70828850	5	5											
OBSCN	84033	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	228548164	228548164	+	Intron	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	ggggcatgcactgggtccccGaggccctctcggcctcttta	4	9	13	15	2	2	0	0	0	2	0	4	1	3	0	4	5	1	2	4	5	1	2			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:228548164G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366709.4_Missense_Mutation_p.R3643Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R6524Q|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				CTGGGTCCCCGAGGCCCTCTC	0.692																																						.											0													16	20	19					1																	228548164		1950	4134	6084	SO:0001627	intron_variant	84033			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.18662-2113G>A	1.37:g.228548164G>A			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	17.77	3.471288	0.63625	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.55760	0.5;0.65	4.06	0.729	0.18266	.	.	.	.	.	T	0.33990	0.0882	L	0.56769	1.78	0.09310	N	1	P	0.43633	0.813	B	0.31101	0.124	T	0.18967	-1.0320	9	0.19147	T	0.46	.	2.2287	0.03991	0.2401:0.0:0.2551:0.5048	.	6524	Q5VST9-3	.	Q	6524;3643	ENSP00000284548:R6524Q;ENSP00000355670:R3643Q	ENSP00000284548:R6524Q	R	+	2	0	OBSCN	226614787	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	1.314000	0.33597	0.340000	0.23745	-0.293000	0.09583	CGA		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228548164	G	A	228548164	1	1	1	0	1	0	0	0	0	0	0	0	10812	1058	37	1		1	OBSCN	1	228548164	Intron	SNP	G	TCGA-KL-8323-01A-21D-2310-10	50126393	228548164	20702457	6	6											
OR2T8	343172	broad.mit.edu	37	chr1	248084369	248084369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattctcctaggactctttaAccacaccagagcccaccaag	12	8	5	16	0	2	1	0	0	2	1	3	2	2	2	5	1	2	0	5	1	3	4			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:248084369A>G	ENST00000319968.4	+	1	50	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	17						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(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGACTCTTTAACCACACCAGA	0.428																																						.											0													104	101	102					1																	248084369		2203	4300	6503	SO:0001583	missense	343172				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.50A>G	1.37:g.248084369A>G	ENSP00000326225:p.Asn17Ser			Missense_Mutation	SNP	ENST00000319968.4	37	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.744473	0.00675	.	.	ENSG00000177462	ENST00000319968	T	0.00316	8.13	3.51	-0.677	0.11357	.	1.231280	0.06234	U	0.689141	T	0.00144	0.0004	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.40175	-0.9577	10	0.02654	T	1	.	4.6608	0.12641	0.6428:0.1616:0.1956:0.0	.	17	A6NH00	OR2T8_HUMAN	S	17	ENSP00000326225:N17S	ENSP00000326225:N17S	N	+	2	0	OR2T8	246150992	0.000000	0.05858	0.037000	0.18230	0.018000	0.09664	0.097000	0.15168	0.027000	0.15297	-0.323000	0.08544	AAC		0.428	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		G	248084369	A	G	248084369	3	3	1	1	0	0	0	0	1	0	0	0	11030	43	2	2	52	2	OR2T8	1	248084369	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	19536205	248084369	1166252	7	7											
STRN	6801	ucsc.edu	37	chr2	37094995	37094995	+	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	tagataggttctacatcaagAgaagtgctcctaaatcagag	15	10	9	7	0	3	3	2	0	1	3	4	4	4	3	1	1	2	2	1	1	7	5			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:37094995A>G	ENST00000263918.4	-	12	1517	c.1509T>C	c.(1507-1509)tcT>tcC	p.S503S	RNU6-577P_ENST00000516947.1_RNA|STRN_ENST00000379213.2_Silent_p.S454S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	503					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTACATCAAGAGAAGTGCTCC	0.299																																						.											0													110	115	113					2																	37094995		2203	4292	6495	SO:0001819	synonymous_variant	6801			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.1509T>C	2.37:g.37094995A>G			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	37094995	A	G	37094995	2	3	1	1	0	0	0	0	0	0	0	1	15328	291	11	2		2	STRN	2	37094995	Silent	SNP	A	TCGA-KL-8323-01A-21D-2310-10		37094995	206104378	8	8											
THADA	63892	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	43507026	43507026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccagagagcaagtgtaTcctgcaactctaagaagacc	14	8	8	11	0	1	3	0	0	1	3	3	4	3	3	3	0	3	3	3	0	5	3			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:43507026T>C	ENST00000405006.4	-	36	5525	c.5174A>G	c.(5173-5175)gAt>gGt	p.D1725G	THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.D1406G|THADA_ENST00000405975.2_Missense_Mutation_p.D1725G	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1725										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)				AGCAAGTGTATCCTGCAACTC	0.473																																						.											0													52	50	51					2																	43507026		1941	4148	6089	SO:0001583	missense	63892			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.5174A>G	2.37:g.43507026T>C	ENSP00000385995:p.Asp1725Gly		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.26|13.26	2.182988|2.182988	0.38511|0.38511	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.12879|.	2.89;2.64;2.89|.	5.14|5.14	2.51|2.51	0.30379|0.30379	.|.	0.302295|.	0.30547|.	N|.	0.009382|.	T|T	0.34337|0.34337	0.0894|0.0894	L|L	0.41824|0.41824	1.3|1.3	0.25115|0.25115	N|N	0.990682|0.990682	B;B|.	0.26483|.	0.15;0.125|.	B;B|.	0.22601|.	0.04;0.026|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|5	0.22706|.	T|.	0.39|.	-25.4555|-25.4555	4.9913|4.9913	0.14216|0.14216	0.0:0.0963:0.1842:0.7195|0.0:0.0963:0.1842:0.7195	.|.	1652;1725|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	G|V	1725;1652;1406;1725|965	ENSP00000386088:D1725G;ENSP00000416048:D1406G;ENSP00000385995:D1725G|.	ENSP00000349464:D1652G|.	D|I	-|-	2|1	0|0	THADA|THADA	43360530|43360530	0.992000|0.992000	0.36948|0.36948	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	0.517000|0.517000	0.22832|0.22832	0.761000|0.761000	0.33130|0.33130	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.473	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43507026	T	C	43507026	3	2	1	1	0	0	0	0	1	0	0	0	15837	1435	50	4	699	4	THADA	2	43507026	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	6412031	43507026	199692347	9	9											
SMYD1	150572	broad.mit.edu	37	chr2	88387571	88387571	+	Missense_Mutation	SNP	T	T	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	gccagcagttcagcatgcagTacatctcgcacatcttcgga	10	9	9	13	2	3	0	1	0	2	0	5	1	3	1	1	1	4	6	1	1	1	3			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:88387571T>C	ENST00000419482.2	+	3	590	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	SMYD1_ENST00000444564.2_Missense_Mutation_p.Y169H|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	169	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						CAGCATGCAGTACATCTCGCA	0.612																																						.											0													113	74	87					2																	88387571		2203	4300	6503	SO:0001583	missense	150572			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.505T>C	2.37:g.88387571T>C	ENSP00000393453:p.Tyr169His		A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457883	0.63401	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.81415	-1.49;-1.49	5.04	5.04	0.67666	SET domain (2);	0.228496	0.46442	D	0.000286	D	0.82770	0.5109	L	0.36672	1.1	0.80722	D	1	D	0.60575	0.988	D	0.67103	0.949	T	0.83212	-0.0073	10	0.52906	T	0.07	-25.3302	10.3599	0.43987	0.0:0.0804:0.0:0.9196	.	169	Q8NB12	SMYD1_HUMAN	H	169;169;3	ENSP00000393453:Y169H;ENSP00000407888:Y169H	ENSP00000295833:Y3H	Y	+	1	0	SMYD1	88168686	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.230000	0.51286	2.007000	0.58848	0.459000	0.35465	TAC		0.612	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		C	88387571	T	C	88387571	3	2	1	1	0	0	0	0	1	0	0	0	14821	1638	57	2	515	2	SMYD1	2	88387571	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	44880545	88387571	154811802	10	10											
RGPD4	285190	ucsc.edu	37	chr2	108487266	108487266	+	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	aaccaggaaatcaagaaaagGaaagtgaaaagcctcttgaa	21	5	9	6	0	2	3	1	2	1	1	2	5	2	5	2	2	2	0	2	2	9	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:108487266G>A	ENST00000408999.3	+	20	2883	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E936K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	936					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAAGAAAAGGAAAGTGAAAA	0.408																																						.											0													198	153	167					2																	108487266		692	1586	2278	SO:0001583	missense	285190			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.2806G>A	2.37:g.108487266G>A	ENSP00000386810:p.Glu936Lys		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.008718	0.00043	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.36878	1.23;1.23	2.33	1.17	0.20885	.	.	.	.	.	T	0.06872	0.0175	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37244	-0.9714	9	0.02654	T	1	-1.0096	6.0551	0.19807	0.5942:0.0:0.4058:0.0	.	936	Q7Z3J3	RGPD4_HUMAN	K	936;936;694	ENSP00000347081:E936K;ENSP00000386810:E936K	ENSP00000347081:E936K	E	+	1	0	RGPD4	107853698	0.375000	0.25089	0.383000	0.26132	0.198000	0.23893	1.757000	0.38400	0.141000	0.18875	-1.867000	0.00556	GAA		0.408	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108487266	G	A	108487266	3	1	1	1	0	0	0	0	1	0	0	0	13288	1175	41	3	2884	3	RGPD4	2	108487266	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	20099695	108487266	134712107	11	11											
CCDC74A	90557	broad.mit.edu;mdanderson.org	37	chr2	132290278	132290278	+	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	gatcctgccccttcccctgcGaaagcccaccacacttaggc	8	7	7	19	1	0	0	0	0	0	0	2	2	2	0	7	1	3	0	7	1	2	2	rs138310081	byFrequency	TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:132290278G>A	ENST00000295171.6	+	5	938	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	CCDC74A_ENST00000409856.3_Missense_Mutation_p.R201Q|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCCCCTGCGAAAGCCCACC	0.642													g|||	15	0.00299521	0.0106	0	5008	,	,		18428	0		0	False		,,,				2504	0.001					.											0								G	GLN/ARG	34,4372		0,34,2169	76	79	78		800	1.7	1	2	dbSNP_134	78	0,8600		0,0,4300	no	missense	CCDC74A	NM_138770.1	43	0,34,6469	AA,AG,GG		0.0,0.7717,0.2614	probably-damaging	267/379	132290278	34,12972	2203	4300	6503	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.800G>A	2.37:g.132290278G>A	ENSP00000295171:p.Arg267Gln		Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.465782	0.26335	0.007717	0.0	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.55052	0.54;0.54	2.66	1.72	0.24424	.	0.235784	0.21781	U	0.069216	T	0.50154	0.1599	L	0.46741	1.465	0.80722	D	1	D;P	0.89917	1.0;0.727	D;B	0.79108	0.992;0.035	T	0.56318	-0.7999	10	0.72032	D	0.01	.	4.841	0.13491	0.1891:0.0:0.8109:0.0	.	201;267	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	Q	267;201	ENSP00000295171:R267Q;ENSP00000387009:R201Q	ENSP00000295171:R267Q	R	+	2	0	CCDC74A	132006748	1.000000	0.71417	0.991000	0.47740	0.057000	0.15508	1.217000	0.32455	1.192000	0.43071	0.194000	0.17425	CGA		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		A	132290278	G	A	132290278	3	1	1	1	0	0	0	0	1	0	0	0	2847	1058	37	1	818	1	CCDC74A	2	132290278	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	23803012	132290278	110909095	12	12											
CCDC74A	90557	broad.mit.edu;mdanderson.org	37	chr2	132290352	132290352	+	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	ccaacctcctgcagacccaaGaggtgaggccctgggtggtg	8	6	14	13	0	0	3	0	1	0	2	1	3	1	3	5	4	2	1	5	4	2	0	rs376130814		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:132290352G>C	ENST00000295171.6	+	5	1012	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E226Q|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	292										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGACCCAAGAGGTGAGGCC	0.652																																						.											0								G	GLN/GLU	0,4404		0,0,2202	32	35	34		874	2.7	1	2		34	2,8588		0,2,4293	no	missense	CCDC74A	NM_138770.1	29	0,2,6495	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging	292/379	132290352	2,12992	2202	4295	6497	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.874G>C	2.37:g.132290352G>C	ENSP00000295171:p.Glu292Gln		Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.21|14.21	2.466460|2.466460	0.43839|0.43839	0.0|0.0	2.33E-4|2.33E-4	ENSG00000163040|ENSG00000163040	ENST00000295171;ENST00000409856|ENST00000434330	T;T|T	0.53206|0.55930	0.63;0.63|0.49	2.66|2.66	2.66|2.66	0.31614|0.31614	.|.	0.000000|.	0.36854|.	U|.	0.002376|.	T|T	0.60818|0.60818	0.2298|0.2298	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.968|.	D;D|.	0.80764|.	0.994;0.969|.	T|T	0.61710|0.61710	-0.7007|-0.7007	10|7	0.87932|0.51188	D|T	0|0.08	.|.	9.0698|9.0698	0.36486|0.36486	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	226;292|.	Q96AQ1-2;Q96AQ1|.	.;CC74A_HUMAN|.	Q|N	292;226|180	ENSP00000295171:E292Q;ENSP00000387009:E226Q|ENSP00000406839:K180N	ENSP00000295171:E292Q|ENSP00000406839:K180N	E|K	+|+	1|3	0|2	CCDC74A|CCDC74A	132006822|132006822	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.289000|0.289000	0.27227|0.27227	4.189000|4.189000	0.58358|0.58358	1.192000|1.192000	0.43071|0.43071	0.194000|0.194000	0.17425|0.17425	GAG|AAG		0.652	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		C	132290352	G	C	132290352	3	2	1	1	0	0	0	0	1	0	0	0	2847	943	33	5	892	5	CCDC74A	2	132290352	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	74	132290352	110909021	13	13											
NEB	4703	broad.mit.edu	37	chr2	152350685	152350685	+	Missense_Mutation	SNP	T	T	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	aagacaataccgagctaatgTtttcttgattgcgtttgact	11	15	8	7	2	1	3	0	2	1	1	1	4	1	3	1	0	3	3	1	0	4	7	rs200544122		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:152350685T>C	ENST00000172853.10	-	141	19148	c.19001A>G	c.(19000-19002)aAc>aGc	p.N6334S	NEB_ENST00000498015.2_Intron|NEB_ENST00000509223.2_Missense_Mutation_p.N134S|NEB_ENST00000427231.2_Missense_Mutation_p.N8190S|NEB_ENST00000603639.1_Missense_Mutation_p.N8190S|NEB_ENST00000397345.3_Missense_Mutation_p.N8190S|RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Missense_Mutation_p.N6334S|NEB_ENST00000397336.2_Missense_Mutation_p.N165S|NEB_ENST00000604864.1_Missense_Mutation_p.N8190S			P20929	NEBU_HUMAN	nebulin	6334					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)		CGAGCTAATGTTTTCTTGATT	0.428																																						.											0													109	90	96					2																	152350685		1881	4117	5998	SO:0001583	missense	4703			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.19001A>G	2.37:g.152350685T>C	ENSP00000172853:p.Asn6334Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	T|T	15.08|15.08	2.728603|2.728603	0.48833|0.48833	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337;ENST00000434685	T;T;T;T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71;0.71;0.71;0.71|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.092478|.	0.46758|.	D|.	0.000265|.	D|D	0.83275|0.83275	0.5219|0.5219	M|M	0.88979|0.88979	2.995|2.995	0.50171|0.50171	D|D	0.999852|0.999852	B;B;B;P;P;D|.	0.69078|.	0.445;0.087;0.019;0.938;0.932;0.997|.	P;B;B;P;D;D|.	0.67103|.	0.497;0.232;0.05;0.785;0.949;0.93|.	D|D	0.86179|0.86179	0.1605|0.1605	10|5	0.29301|.	T|.	0.29|.	.|.	15.8312|15.8312	0.78752|0.78752	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	134;165;134;6334;2734;8190|.	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5|.	.;.;.;NEBU_HUMAN;.;.|.	S|A	6334;8190;8190;2352;2734;6334;165;134|324;493	ENSP00000386259:N6334S;ENSP00000380505:N8190S;ENSP00000416578:N8190S;ENSP00000410961:N2734S;ENSP00000172853:N6334S;ENSP00000380497:N165S;ENSP00000427083:N134S|.	ENSP00000172853:N6334S|.	N|T	-|-	2|1	0|0	NEB|NEB	152058931|152058931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.356000|4.356000	0.59430|0.59430	2.207000|2.207000	0.71202|0.71202	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152350685	T	C	152350685	3	2	1	1	0	0	0	0	1	0	0	0	10302	1725	60	2	1044	2	NEB	2	152350685	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	20060333	152350685	90848688	14	14											
DLX2	1746	hgsc.bcm.edu	37	chr2	172966928	172966928	+	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	gcgtaggaggtgtaggcggcGgtgtagcccaggtcatagct	7	8	18	8	3	1	0	1	0	0	0	1	1	1	1	1	6	2	4	1	6	4	4	rs143444914		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:172966928G>T	ENST00000234198.4	-	1	700	c.339C>A	c.(337-339)acC>acA	p.T113T	DLX2_ENST00000466293.2_Silent_p.T113T|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	113					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)			TGTAGGCGGCGGTGTAGCCCA	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		15923	0		0	False		,,,				2504	0				GBM(188;775 2993 11256 23072)	.											0								G		1,4405	2.1+/-5.4	0,1,2202	139	132	134		339	0.3	1	2	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	DLX2	NM_004405.3		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		113/329	172966928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1746			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.339C>A	2.37:g.172966928G>T			B4DMK4|B7ZA14	Silent	SNP	ENST00000234198.4	37	CCDS2248.1																																																																																				0.602	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			T	172966928	G	T	172966928	2	4	1	1	0	0	0	0	0	0	0	1	4571	1103	39	5		5	DLX2	2	172966928	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10	20616243	172966928	70232445	15	15											
HDAC4	9759	ucsc.edu	37	chr2	240033259	240033259	+	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	ttggtggggggctcctgcacAgacacggggaaggtggcaga	8	6	19	8	1	0	2	0	0	0	2	1	3	1	3	1	8	1	3	1	8	1	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:240033259A>G	ENST00000345617.3	-	14	2717	c.1926T>C	c.(1924-1926)tcT>tcC	p.S642S	HDAC4_ENST00000543185.1_Silent_p.S226S|HDAC4_ENST00000541256.1_Silent_p.S616S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	642					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)		GCTCCTGCACAGACACGGGGA	0.701																																						.											0													26	23	24					2																	240033259		2199	4299	6498	SO:0001819	synonymous_variant	9759			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.1926T>C	2.37:g.240033259A>G			Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																				0.701	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		G	240033259	A	G	240033259	2	3	1	1	0	0	0	0	0	0	0	1	7009	175	7	2		2	HDAC4	2	240033259	Silent	SNP	A	TCGA-KL-8323-01A-21D-2310-10	67066331	240033259	3166114	16	16											
GAL3ST2	64090	broad.mit.edu;ucsc.edu	37	chr2	242741375	242741375	+	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	ctacccctggctcttcctggCgcgctacgtggaaggcgtgg	4	9	14	14	4	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	3	3	rs376256085		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:242741375C>T	ENST00000192314.6	+	3	430	c.299C>T	c.(298-300)gCg>gTg	p.A100V	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	100					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)		CTCTTCCTGGCGCGCTACGTG	0.662																																						.											0													46	44	44					2																	242741375		2201	4300	6501	SO:0001583	missense	64090			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.299C>T	2.37:g.242741375C>T	ENSP00000192314:p.Ala100Val		Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797667	0.50208	.	.	ENSG00000154252	ENST00000192314	T	0.16897	2.31	3.8	3.8	0.43715	.	0.293227	0.29451	N	0.012115	T	0.16811	0.0404	L	0.31157	0.91	0.30871	N	0.732501	D	0.54207	0.965	P	0.47891	0.56	T	0.03514	-1.1029	10	0.25106	T	0.35	-12.4576	14.3673	0.66815	0.0:1.0:0.0:0.0	.	100	Q9H3Q3	G3ST2_HUMAN	V	100	ENSP00000192314:A100V	ENSP00000192314:A100V	A	+	2	0	GAL3ST2	242390048	0.290000	0.24343	0.957000	0.39632	0.024000	0.10985	3.739000	0.55075	2.118000	0.64928	0.306000	0.20318	GCG		0.662	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		T	242741375	C	T	242741375	3	4	1	1	0	0	0	0	1	0	0	0	6198	768	27	1	309	1	GAL3ST2	2	242741375	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10	2708116	242741375	457998	17	17											
VILL	50853	broad.mit.edu	37	chr3	38040855	38040855	+	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	tcgattcatgtaaagctggaCgtgggcaagctgcacaccca	11	8	11	11	2	1	0	1	0	0	0	2	2	1	1	1	2	3	5	1	2	3	2			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:38040855C>T	ENST00000283713.6	+	11	1373	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	VILL_ENST00000465644.1_Silent_p.D87D|VILL_ENST00000383759.2_Silent_p.D369D			O15195	VILL_HUMAN	villin-like	369					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)		TAAAGCTGGACGTGGGCAAGC	0.627																																						.											0													98	83	88					3																	38040855		2203	4300	6503	SO:0001819	synonymous_variant	50853				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.1107C>T	3.37:g.38040855C>T			A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																				0.627	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		T	38040855	C	T	38040855	2	4	1	1	0	0	0	0	0	0	0	1	17162	535	19	1		1	VILL	3	38040855	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10		38040855	159981575	18	18											
GPR27	2850	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	71804279	71804279	+	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	cccctgctgccagagcccccGgaccacccaggcgacccatc	7	3	9	22	2	0	1	0	0	0	1	1	3	0	2	8	2	3	1	8	2	0	0			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:71804279G>A	ENST00000304411.2	+	1	1079	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	360					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CAGAGCCCCCGGACCACCCAG	0.642																																						.											0													12	12	12					3																	71804279		2103	4141	6244	SO:0001583	missense	2850			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1079G>A	3.37:g.71804279G>A	ENSP00000303149:p.Arg360Gln			Missense_Mutation	SNP	ENST00000304411.2	37	CCDS2915.1	.	.	.	.	.	.	.	.	.	.	G	5.821	0.335788	0.11013	.	.	ENSG00000170837	ENST00000304411	T	0.38077	1.16	4.71	-0.255	0.12988	.	0.263235	0.31167	N	0.008121	T	0.12475	0.0303	N	0.04508	-0.205	0.22975	N	0.998484	B	0.06786	0.001	B	0.04013	0.001	T	0.33317	-0.9873	10	0.07482	T	0.82	-4.752	8.3324	0.32195	0.6664:0.0:0.3336:0.0	.	360	Q9NS67	GPR27_HUMAN	Q	360	ENSP00000303149:R360Q	ENSP00000303149:R360Q	R	+	2	0	GPR27	71886969	.	.	0.985000	0.45067	0.974000	0.67602	.	.	-0.052000	0.13311	-0.384000	0.06662	CGG		0.642	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		A	71804279	G	A	71804279	3	1	1	1	0	0	0	0	1	0	0	0	6685	1116	39	1	1081	1	GPR27	3	71804279	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	33763424	71804279	126218151	19	19											
VEPH1	79674	broad.mit.edu	37	chr3	157082297	157082297	+	Missense_Mutation	SNP	T	T	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	ttcaatttcagtgctgatttTtctcctaaaggaatataaat	13	17	5	6	0	3	1	2	1	1	0	4	2	3	2	1	1	1	1	1	1	7	7			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:157082297T>C	ENST00000362010.2	-	8	1439	c.1132A>G	c.(1132-1134)Aaa>Gaa	p.K378E	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.K378E|VEPH1_ENST00000392833.2_Missense_Mutation_p.K378E|VEPH1_ENST00000392832.2_Missense_Mutation_p.K378E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	378						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTGCTGATTTTTCTCCTAAAG	0.353																																						.											0													95	91	92					3																	157082297		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1132A>G	3.37:g.157082297T>C	ENSP00000354919:p.Lys378Glu		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013384	0.19277	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08896	3.04;3.05;3.04;3.05	5.61	1.96	0.26148	.	0.275741	0.39341	N	0.001393	T	0.03390	0.0098	N	0.14661	0.345	0.58432	D	0.999997	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.40270	-0.9572	10	0.02654	T	1	0.0063	5.7345	0.18059	0.0:0.506:0.0:0.494	.	378;378	Q14D04-2;Q14D04	.;MELT_HUMAN	E	378	ENSP00000376578:K378E;ENSP00000354919:K378E;ENSP00000446258:K378E;ENSP00000376577:K378E	ENSP00000354919:K378E	K	-	1	0	VEPH1	158564991	1.000000	0.71417	0.716000	0.30569	0.861000	0.49209	3.419000	0.52728	0.420000	0.25954	0.528000	0.53228	AAA		0.353	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		C	157082297	T	C	157082297	3	2	1	1	0	0	0	0	1	0	0	0	17151	1850	64	4	1397	4	VEPH1	3	157082297	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	85278018	157082297	40940133	20	20											
ZBBX	79740	ucsc.edu	37	chr3	166960302	166960302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaacttacctcaattccTcaactccacagggacccctc	10	10	4	17	0	2	0	2	0	0	0	5	1	4	1	5	1	3	1	5	1	4	3			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:166960302T>C	ENST00000392766.2	-	20	2607	c.2267A>G	c.(2266-2268)gAg>gGg	p.E756G	ZBBX_ENST00000307529.5_Missense_Mutation_p.E795G|ZBBX_ENST00000455345.2_Missense_Mutation_p.E795G|ZBBX_ENST00000392767.2_Missense_Mutation_p.E756G|ZBBX_ENST00000392764.1_Missense_Mutation_p.E727G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	756						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						CCTCAATTCCTCAACTCCACA	0.353																																						.											0													86	81	82					3																	166960302		1810	4064	5874	SO:0001583	missense	79740			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.2267A>G	3.37:g.166960302T>C	ENSP00000376519:p.Glu756Gly		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702067	0.30232	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.01	2.62	0.31277	.	0.308843	0.27336	N	0.019836	T	0.41096	0.1144	L	0.44542	1.39	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.13407	0.009;0.004	T	0.38693	-0.9649	10	0.87932	D	0	-2.0389	6.6105	0.22749	0.0:0.1936:0.0:0.8064	.	795;756	A8MT70-2;A8MT70	.;ZBBX_HUMAN	G	756;756;795;795;727	ENSP00000376519:E756G;ENSP00000376520:E756G;ENSP00000390232:E795G;ENSP00000305065:E795G;ENSP00000376517:E727G	ENSP00000305065:E795G	E	-	2	0	ZBBX	168442996	0.098000	0.21812	0.067000	0.19924	0.024000	0.10985	1.233000	0.32648	0.268000	0.21939	0.482000	0.46254	GAG		0.353	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	166960302	T	C	166960302	3	2	1	1	0	0	0	0	1	0	0	0	17513	1551	54	2	143	2	ZBBX	3	166960302	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	9878005	166960302	31062128	21	21											
AADAT	51166	broad.mit.edu	37	chr4	171009684	171009684	+	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	aagccaccagccaaggagatCatcgattttggtcctctgct	10	10	9	12	1	2	1	1	0	1	1	4	3	3	1	4	2	3	1	4	2	2	2			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr4:171009684C>T	ENST00000337664.4	-	2	375	c.99G>A	c.(97-99)atG>atA	p.M33I	AADAT_ENST00000353187.2_Missense_Mutation_p.M33I|AADAT_ENST00000509167.1_Missense_Mutation_p.M37I|AADAT_ENST00000515480.1_Missense_Mutation_p.M33I	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	33					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CCAAGGAGATCATCGATTTTG	0.388																																						.											0													152	133	139					4																	171009684		2203	4300	6503	SO:0001583	missense	51166			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.99G>A	4.37:g.171009684C>T	ENSP00000336808:p.Met33Ile		B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.107192	0.01813	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187;ENST00000510340;ENST00000507375;ENST00000502392	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;2.2;2.2;2.2	5.19	3.43	0.39272	Pyridoxal phosphate-dependent transferase, major domain (1);	0.671285	0.15651	N	0.251382	T	0.18002	0.0432	N	0.05510	-0.035	0.23425	N	0.9977	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.20042	-1.0287	10	0.29301	T	0.29	0.8926	8.1753	0.31278	0.0:0.2958:0.4236:0.2806	.	37;33	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	I	33;33;37;33;24;33;33	ENSP00000336808:M33I;ENSP00000423341:M33I;ENSP00000423190:M37I;ENSP00000226840:M33I;ENSP00000425067:M24I;ENSP00000421389:M33I;ENSP00000423843:M33I	ENSP00000336808:M33I	M	-	3	0	AADAT	171246259	1.000000	0.71417	0.606000	0.28943	0.002000	0.02628	1.159000	0.31749	0.543000	0.28864	-0.165000	0.13383	ATG		0.388	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		T	171009684	C	T	171009684	3	4	1	1	0	0	0	0	1	0	0	0	14	826	29	4	1226	4	AADAT	4	171009684	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10		171009684	20144592	22	22											
POU5F2	134187	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	93076393	93076393	+	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	tgggagccccagtcccaggtGaaagcacactggtgctcctg	8	7	13	13	0	0	1	0	1	0	0	2	2	2	2	4	3	3	2	4	3	1	0			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr5:93076393G>C	ENST00000510627.4	-	1	950	c.877C>G	c.(877-879)Cac>Gac	p.H293D	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	293					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AGTCCCAGGTGAAAGCACACT	0.617																																						.											0													35	39	38					5																	93076393		1920	4110	6030	SO:0001583	missense	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.877C>G	5.37:g.93076393G>C	ENSP00000464890:p.His293Asp		Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	CCDS59489.1																																																																																				0.617	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		C	93076393	G	C	93076393	3	2	1	1	0	0	0	0	1	0	0	0	12283	1290	45	5	113	5	POU5F2	5	93076393	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10		93076393	87838867	23	23											
MEGF10	84466	ucsc.edu	37	chr5	126755867	126755867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacgtgtgcacctggaTggcgcggggagaaatgcgaa	9	6	16	10	4	0	1	0	0	0	1	0	4	0	2	2	4	3	2	2	4	2	0			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr5:126755867T>C	ENST00000274473.6	+	13	1825	c.1558T>C	c.(1558-1560)Tgg>Cgg	p.W520R	MEGF10_ENST00000418761.2_Missense_Mutation_p.W520R|MEGF10_ENST00000508365.1_Missense_Mutation_p.W520R|MEGF10_ENST00000503335.2_Missense_Mutation_p.W520R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	520	EGF-like 9. {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)		TGCACCTGGATGGCGCGGGGA	0.562																																						.											0													84	72	76					5																	126755867		2203	4300	6503	SO:0001583	missense	84466			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.1558T>C	5.37:g.126755867T>C	ENSP00000274473:p.Trp520Arg		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614955	0.87359	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.72	5.72	0.89469	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.71409	0.3336	M	0.86097	2.795	0.80722	D	1	P;P	0.47034	0.55;0.889	B;P	0.54815	0.412;0.761	T	0.76255	-0.3026	10	0.66056	D	0.02	-22.1087	16.2962	0.82776	0.0:0.0:0.0:1.0	.	520;520	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	R	520	ENSP00000423354:W520R;ENSP00000423195:W520R;ENSP00000416284:W520R;ENSP00000274473:W520R	ENSP00000274473:W520R	W	+	1	0	MEGF10	126783766	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.957000	0.87870	2.304000	0.77564	0.528000	0.53228	TGG		0.562	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		C	126755867	T	C	126755867	3	2	1	1	0	0	0	0	1	0	0	0	9460	1464	51	4	1600	4	MEGF10	5	126755867	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	33679474	126755867	54159393	24	24											
FAM153B	202134	broad.mit.edu	37	chr5	175530235	175530235	+	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	tttgtatcctcctagttctgAtcagggatgtacttcaggag	8	15	10	8	0	3	1	2	1	1	0	5	3	5	3	2	2	1	3	2	2	3	6			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr5:175530235A>C	ENST00000253490.4	+	13	727	c.670A>C	c.(670-672)Atc>Ctc	p.I224L	FAM153B_ENST00000510151.1_Missense_Mutation_p.I147L|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.I147L			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	224										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCTAGTTCTGATCAGGGATGT	0.507																																						.											0													165	174	171					5																	175530235		2203	4300	6503	SO:0001583	missense	202134			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.670A>C	5.37:g.175530235A>C	ENSP00000253490:p.Ile224Leu		A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37		.	.	.	.	.	.	.	.	.	.	A	1.491	-0.554597	0.03996	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	1.26	-2.53	0.06326	.	.	.	.	.	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.19614	-1.0300	8	0.87932	D	0	.	5.9593	0.19291	0.3919:0.6081:0.0:0.0	.	224	P0C7A2	F153B_HUMAN	L	147;224	.	ENSP00000253490:I224L	I	+	1	0	FAM153B	175462841	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.742000	0.26216	-0.649000	0.05430	0.145000	0.16022	ATC		0.507	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		C	175530235	A	C	175530235	3	2	1	1	0	0	0	0	1	0	0	0	5461	333	12	5	720	5	FAM153B	5	175530235	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	48774368	175530235	5385025	25	25											
RMND1	55005	ucsc.edu	37	chr6	151744763	151744763	+	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	cccctgtgaagttttgactgTcccctgtgaaaagcaaaaag	12	10	9	10	0	0	3	0	3	0	0	1	3	1	3	4	0	1	2	4	0	5	2			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr6:151744763T>C	ENST00000367303.4	-	7	956	c.834A>G	c.(832-834)ggA>ggG	p.G278G	RMND1_ENST00000336451.3_Silent_p.G67G	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	278					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GTTTTGACTGTCCCCTGTGAA	0.358																																						.											0													103	104	104					6																	151744763		2203	4300	6503	SO:0001819	synonymous_variant	55005			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.834A>G	6.37:g.151744763T>C			A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Silent	SNP	ENST00000367303.4	37	CCDS5232.1																																																																																				0.358	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		C	151744763	T	C	151744763	2	2	1	1	0	0	0	0	0	0	0	1	13396	1654	58	2		2	RMND1	6	151744763	Silent	SNP	T	TCGA-KL-8323-01A-21D-2310-10		151744763	19370304	26	26											
ACCN3	9311	broad.mit.edu;hgsc.bcm.edu	37	chr7	150746017	150746017	+	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	gaggcccggcggccagcctcGgacatccgcgtgttcgccag	5	5	15	16	6	0	0	0	0	0	0	3	2	1	1	5	4	1	1	5	4	0	1	rs369122567		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr7:150746017G>A	ENST00000349064.5	+	1	243	c.45G>A	c.(43-45)tcG>tcA	p.S15S	ASIC3_ENST00000357922.4_Silent_p.S15S|ASIC3_ENST00000297512.8_Silent_p.S15S	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	15					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)										GGCCAGCCTCGGACATCCGCG	0.687																																						.											0								G	,,	0,4404		0,0,2202	33	42	39		45,45,45	-5.2	0.7	7		39	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,	15/532,15/550,15/544	150746017	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	9311			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.45G>A	7.37:g.150746017G>A			B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1																																																																																				0.687	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		A	150746017	G	A	150746017	2	1	1	1	0	0	0	0	0	0	0	1	130	1103	39	1		1	ACCN3	7	150746017	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10		150746017	8392646	27	27											
PTPRN2	5799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	157931202	157931202	+	Missense_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	cttcaggagggtatgaatccGtgctcctaggggcacacaca	10	8	12	11	1	1	1	1	1	0	0	3	2	3	2	2	4	1	3	2	4	3	3	rs370624864		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr7:157931202G>A	ENST00000389418.4	-	7	925	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	PTPRN2_ENST00000389413.3_Missense_Mutation_p.R306W|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R268W|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R289W|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R329W	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	306					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTATGAATCCGTGCTCCTAGG	0.632																																						.											0									TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	48	51	50		916,865,916	1.8	0	7		50	0,8600		0,0,4300	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	306/1016,289/999,306/987	157931202	1,13005	2203	4300	6503	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.916C>T	7.37:g.157931202G>A	ENSP00000374069:p.Arg306Trp		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688479	0.29962	2.27E-4	0.0	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02944	4.12;4.1;4.11;4.11;4.1	4.11	1.83	0.25207	.	.	.	.	.	T	0.02380	0.0073	N	0.24115	0.695	0.09310	N	1	D;D;D;D;D	0.59767	0.986;0.975;0.986;0.975;0.975	B;B;B;B;B	0.43783	0.431;0.248;0.431;0.248;0.248	T	0.49753	-0.8906	9	0.39692	T	0.17	.	5.0987	0.14747	0.4449:0.0:0.5551:0.0	.	329;268;306;289;306	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	W	268;306;289;306;329	ENSP00000387114:R268W;ENSP00000374064:R306W;ENSP00000374067:R289W;ENSP00000374069:R306W;ENSP00000385464:R329W	ENSP00000374064:R306W	R	-	1	2	PTPRN2	157623963	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.615000	0.24329	0.267000	0.21916	0.650000	0.86243	CGG		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157931202	G	A	157931202	3	1	1	1	0	0	0	0	1	0	0	0	12808	1144	40	1	2199	1	PTPRN2	7	157931202	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	7185185	157931202	1207461	28	28											
ADAM32	203102	ucsc.edu	37	chr8	38965348	38965348	+	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	tgcggcctcctggcgtcaagAcccggtgagccagcccagac	7	5	13	16	3	1	3	1	1	0	2	2	3	2	3	5	3	3	0	5	3	1	0			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr8:38965348A>G	ENST00000379907.4	+	1	181	c.54A>G	c.(52-54)agA>agG	p.R18R	ADAM32_ENST00000519315.1_Silent_p.R18R|ADAM32_ENST00000437682.2_Missense_Mutation_p.D52G	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	18						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)			TGGCGTCAAGACCCGGTGAGC	0.692																																						.											0													8	10	10					8																	38965348		1652	3666	5318	SO:0001819	synonymous_variant	203102			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.54A>G	8.37:g.38965348A>G			Q8TC42	Silent	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235989	0.22626	.	.	ENSG00000197140	ENST00000437682	T	0.05717	3.4	2.78	-3.24	0.05094	.	.	.	.	.	T	0.03434	0.0099	.	.	.	0.20403	N	0.999902	B	0.21688	0.059	B	0.26416	0.069	T	0.45848	-0.9233	8	0.31617	T	0.26	.	0.3329	0.00321	0.3506:0.1976:0.2584:0.1934	.	52	E7EPX8	.	G	52	ENSP00000405978:D52G	ENSP00000405978:D52G	D	+	2	0	ADAM32	39084505	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.152000	0.16302	-0.696000	0.05098	-0.466000	0.05196	GAC		0.692	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		G	38965348	A	G	38965348	2	3	1	1	0	0	0	0	0	0	0	1	249	272	10	2		2	ADAM32	8	38965348	Silent	SNP	A	TCGA-KL-8323-01A-21D-2310-10		38965348	107398674	29	29											
C9orf95	54981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	77681741	77681741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcctcttcagattttGttccatccaggtacactacg	9	13	8	11	1	2	2	1	0	1	2	5	2	5	2	3	2	2	2	3	2	2	6			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr9:77681741G>T	ENST00000361092.4	-	8	748	c.512C>A	c.(511-513)aCa>aAa	p.T171K	NMRK1_ENST00000482537.1_5'UTR|NMRK1_ENST00000376811.1_Missense_Mutation_p.T175K|NMRK1_ENST00000376808.4_Missense_Mutation_p.T147K	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	171					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TTCAGATTTTGTTCCATCCAG	0.363																																						.											0													132	126	128					9																	77681741		2203	4300	6503	SO:0001583	missense	54981			AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"chromosome 9 open reading frame 95"	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.512C>A	9.37:g.77681741G>T	ENSP00000354387:p.Thr171Lys		Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375440	0.42105	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.36340	1.26;1.26;1.26	5.45	3.61	0.41365	.	0.360554	0.29159	N	0.012968	T	0.44726	0.1307	M	0.83953	2.67	0.43637	D	0.996032	D;P;D	0.59357	0.985;0.884;0.971	P;B;P	0.51999	0.687;0.106;0.614	T	0.54735	-0.8249	10	0.07030	T	0.85	-14.6147	8.1753	0.31278	0.2484:0.0:0.7516:0.0	.	147;175;171	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	K	175;175;171;147	ENSP00000366007:T175K;ENSP00000354387:T171K;ENSP00000366004:T147K	ENSP00000354387:T171K	T	-	2	0	C9orf95	76871561	1.000000	0.71417	0.994000	0.49952	0.383000	0.30230	2.942000	0.49018	0.680000	0.31366	0.650000	0.86243	ACA		0.363	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		T	77681741	G	T	77681741	3	4	1	1	0	0	0	0	1	0	0	0	2507	1377	48	5	95	5	C9orf95	9	77681741	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10		77681741	63531690	30	30											
NOXA1	377841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	140327707	140327707	+	IGR	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	gcccctgtgaggaccccgcgGgtgctggggtaagaggctct	5	7	17	12	2	1	2	0	1	1	1	1	3	1	3	4	5	1	3	4	5	1	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr9:140327707G>A	ENST00000472938.1	-	0	1749				NOXA1_ENST00000392815.2_Missense_Mutation_p.G245S|NOXA1_ENST00000341349.2_Missense_Mutation_p.G301S			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						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)	p.G301C(1)		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)		GGACCCCGCGGGTGCTGGGGT	0.652																																						.											1	Substitution - Missense(1)	cervix(1)											10	12	11					9																	140327707		2171	4281	6452	SO:0001628	intergenic_variant	10811			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		9.37:g.140327707G>A			A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	4.715	0.132877	0.09032	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.87029	-1.99;-2.2	2.27	-2.21	0.06973	.	1.949590	0.02659	N	0.107253	T	0.69333	0.3099	N	0.08118	0	0.09310	N	1	B;B;B	0.33318	0.408;0.01;0.007	B;B;B	0.31751	0.135;0.006;0.02	T	0.62959	-0.6743	10	0.09590	T	0.72	.	3.4659	0.07549	0.4195:0.2046:0.3759:0.0	.	245;301;301	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	S	301;245	ENSP00000342848:G301S;ENSP00000376562:G245S	ENSP00000342848:G301S	G	+	1	0	NOXA1	139447528	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.315000	0.08081	-0.611000	0.05709	0.561000	0.74099	GGT		0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		A	140327707	G	A	140327707	1	1	1	0	1	0	0	0	0	0	0	0	10560	1232	43	3		3	NOXA1	9	140327707	IGR	SNP	G	TCGA-KL-8323-01A-21D-2310-10	62645966	140327707	885724	31	31											
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	16967262	16967262	+	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	aaactctttgcctcatatttGattttaaatccttgcccttc	9	18	3	11	0	2	1	1	1	1	0	4	1	3	1	3	0	3	0	3	0	4	7			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:16967262G>A	ENST00000377833.4	-	43	6689	c.6624C>T	c.(6622-6624)atC>atT	p.I2208I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2208	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCATATTTGATTTTAAATC	0.328																																						.											0													60	61	60					10																	16967262		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6624C>T	10.37:g.16967262G>A			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.328	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	16967262	G	A	16967262	2	1	1	1	0	0	0	0	0	0	0	1	4051	1280	45	4		4	CUBN	10	16967262	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10		16967262	118567485	32	32											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	89711966	89711966	+	Missense_Mutation	SNP	T	T	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	tagaccagtggcactgttgtTtcacaagatgatgtttgaaa	12	13	10	6	0	1	4	1	2	0	2	1	4	1	4	1	1	0	4	1	1	3	4			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:89711966T>C	ENST00000371953.3	+	6	1941	c.584T>C	c.(583-585)tTt>tCt	p.F195S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	195	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCACTGTTGTTTCACAAGATG	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	52	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)											154	152	153					10																	89711966		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.584T>C	10.37:g.89711966T>C	ENSP00000361021:p.Phe195Ser		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	32	5.149283	0.94645	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.092703	0.85682	D	0.000000	D	0.90366	0.6985	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.89873	0.4024	9	.	.	.	-4.4487	16.2416	0.82411	0.0:0.0:0.0:1.0	.	195	P60484	PTEN_HUMAN	S	195	ENSP00000361021:F195S	.	F	+	2	0	PTEN	89701946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.615000	0.83006	2.241000	0.73720	0.477000	0.44152	TTT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89711966	T	C	89711966	3	2	1	1	0	0	0	0	1	0	0	0	12738	1841	64	4	606	4	PTEN	10	89711966	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	72744704	89711966	45822781	33	33											
C10orf28	27291	ucsc.edu;bcgsc.ca	37	chr10	99991273	99991273	+	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	gcttcttcctttctagttatCagggaataccaagagcagag	11	12	9	9	0	3	2	1	0	2	2	4	3	4	3	2	1	2	3	2	1	5	6			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:99991273C>T	ENST00000298999.3	+	6	2093	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S597L|R3HCC1L_ENST00000314594.5_Missense_Mutation_p.S13L|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.S3L	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	611							nucleotide binding (GO:0000166)										TTCTAGTTATCAGGGAATACC	0.383																																						.											0													99	90	93					10																	99991273		2203	4300	6503	SO:0001583	missense	27291			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1790C>T	10.37:g.99991273C>T	ENSP00000298999:p.Ser597Leu		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486925	0.84854	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.83	5.83	0.93111	.	0.351150	0.27971	N	0.017111	T	0.40619	0.1124	L	0.60455	1.87	0.39744	D	0.971786	B;P;P	0.52842	0.103;0.956;0.843	B;P;P	0.51016	0.058;0.656;0.487	T	0.18967	-1.0320	9	.	.	.	-8.6307	12.9136	0.58192	0.0:0.9218:0.0:0.0782	.	3;611;597	Q7Z5L2-3;Q7Z5L2;Q7Z5L2-2	.;GIDRP_HUMAN;.	L	597;597;3;13;4	ENSP00000359616:S597L;ENSP00000298999:S597L;ENSP00000359618:S3L;ENSP00000314018:S13L	.	S	+	2	0	C10orf28	99981263	0.994000	0.37717	1.000000	0.80357	0.845000	0.48019	1.536000	0.36072	2.744000	0.94065	0.655000	0.94253	TCA		0.383	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		T	99991273	C	T	99991273	3	4	1	1	0	0	0	0	1	0	0	0	1601	838	29	4	1796	4	C10orf28	10	99991273	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10	10279307	99991273	35543474	34	34											
PHRF1	57661	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	605169	605169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggacgctgggcctgcgcagGcctgttcacagcagctgcat	6	7	14	14	3	1	0	1	0	0	0	1	1	1	1	2	3	4	6	2	3	0	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:605169G>T	ENST00000264555.5	+	11	1331	c.1203G>T	c.(1201-1203)agG>agT	p.R401S	PHRF1_ENST00000416188.2_Missense_Mutation_p.R401S|PHRF1_ENST00000533464.1_Missense_Mutation_p.R397S|PHRF1_ENST00000413872.2_Missense_Mutation_p.R400S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	401	Arg-rich.				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						GCCTGCGCAGGCCTGTTCACA	0.567																																						.											0													46	49	48					11																	605169		2071	4212	6283	SO:0001583	missense	57661			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.1203G>T	11.37:g.605169G>T	ENSP00000264555:p.Arg401Ser		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	G	7.714	0.695759	0.15106	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.65	1.63	0.23807	.	0.620308	0.13443	N	0.387560	T	0.81545	0.4845	N	0.24115	0.695	0.28574	N	0.910468	B;B;B;B	0.24823	0.068;0.112;0.112;0.068	B;B;B;B	0.20955	0.014;0.032;0.032;0.014	T	0.69339	-0.5171	10	0.33141	T	0.24	-17.2271	1.0008	0.01476	0.2743:0.1627:0.397:0.166	.	397;400;401;401	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	401;400;401;397	ENSP00000264555:R401S;ENSP00000388589:R400S;ENSP00000410626:R401S;ENSP00000431870:R397S	ENSP00000264555:R401S	R	+	3	2	PHRF1	595169	1.000000	0.71417	0.260000	0.24451	0.024000	0.10985	1.285000	0.33261	0.551000	0.29008	0.563000	0.77884	AGG		0.567	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		T	605169	G	T	605169	3	4	1	1	0	0	0	0	1	0	0	0	11861	1194	42	5	1241	5	PHRF1	11	605169	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10		605169	134401347	35	35											
MUC5B	727897	broad.mit.edu	37	chr11	1270385	1270385	+	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	caccccgggccacaccacggCcacctccaggaccacggcca	9	1	9	22	3	0	0	0	0	0	0	1	1	1	1	9	4	0	0	9	4	0	0			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:1270385C>G	ENST00000529681.1	+	31	12333	c.12275C>G	c.(12274-12276)gCc>gGc	p.A4092G	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4095G|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4092	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)		CACACCACGGCCACCTCCAGG	0.701																																						.											0													89	122	111					11																	1270385		2095	4203	6298	SO:0001583	missense	727897			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.12275C>G	11.37:g.1270385C>G	ENSP00000436812:p.Ala4092Gly		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.394	0.257910	0.10239	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.46	1.88	-0.722	0.11184	.	.	.	.	.	T	0.17023	0.0409	M	0.67953	2.075	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29305	-1.0016	9	0.87932	D	0	.	5.417	0.16380	0.0:0.4252:0.3955:0.1793	.	4565;4095	A7Y9J9;E9PBJ0	.;.	G	4092;4095;4036;3942	ENSP00000436812:A4092G;ENSP00000415793:A4095G	ENSP00000343037:A4036G	A	+	2	0	MUC5B	1226961	0.005000	0.15991	0.002000	0.10522	0.162000	0.22319	1.701000	0.37825	-0.378000	0.07918	0.393000	0.25936	GCC		0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1270385	C	G	1270385	3	3	1	1	0	0	0	0	1	0	0	0	9979	739	26	5	12406	5	MUC5B	11	1270385	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10	665216	1270385	133736131	36	36											
MED17	9440	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	93517753	93517753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatgaggtgggcctggAtggcaccgagacgtacctgc	7	7	16	11	2	0	2	0	1	0	1	1	4	1	3	4	5	2	2	4	5	1	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:93517753A>G	ENST00000251871.3	+	1	361	c.74A>G	c.(73-75)gAt>gGt	p.D25G	MED17_ENST00000530819.1_Missense_Mutation_p.D25G	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	25					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)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGGGCCTGGATGGCACCGAG	0.672																																						.											0													43	33	36					11																	93517753		2199	4298	6497	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.74A>G	11.37:g.93517753A>G	ENSP00000251871:p.Asp25Gly		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	34	5.386599	0.95967	.	.	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359	T;T;T	0.66995	-0.24;0.2;0.26	5.76	5.76	0.90799	.	0.102946	0.64402	D	0.000002	T	0.80798	0.4692	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.974	D;P	0.71870	0.975;0.772	T	0.82839	-0.0259	10	0.72032	D	0.01	-26.298	16.0699	0.80919	1.0:0.0:0.0:0.0	.	25;25	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	G	25	ENSP00000251871:D25G;ENSP00000434459:D25G;ENSP00000431524:D25G	ENSP00000251871:D25G	D	+	2	0	MED17	93157401	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.563000	0.90723	2.200000	0.70718	0.459000	0.35465	GAT		0.672	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		G	93517753	A	G	93517753	3	3	1	1	0	0	0	0	1	0	0	0	9435	333	12	4	76	4	MED17	11	93517753	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	92247368	93517753	41488763	37	37											
LIMA1	51474	broad.mit.edu	37	chr12	50575718	50575718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgcaataggagcaacggaAgcagctgatgtgaaacacct	14	7	12	8	1	0	2	0	2	0	0	0	4	0	4	1	2	6	5	1	2	5	2			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr12:50575718A>G	ENST00000341247.4	-	10	1392	c.1243T>C	c.(1243-1245)Ttc>Ctc	p.F415L	LIMA1_ENST00000547825.1_Missense_Mutation_p.F113L|LIMA1_ENST00000552783.1_Missense_Mutation_p.F256L|LIMA1_ENST00000394943.3_Missense_Mutation_p.F416L|LIMA1_ENST00000552491.1_Missense_Mutation_p.F112L|LIMA1_ENST00000552909.1_Missense_Mutation_p.F254L|LIMA1_ENST00000552823.1_Missense_Mutation_p.F255L	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	415	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.			F -> L (in Ref. 8; AAG17267). {ECO:0000305}.	actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGCAACGGAAGCAGCTGATG	0.488																																						.											0													110	99	103					12																	50575718		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1243T>C	12.37:g.50575718A>G	ENSP00000340184:p.Phe415Leu		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	A	36	5.631391	0.96682	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.49	5.49	0.81192	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.964	D;D;D	0.97110	1.0;0.991;0.978	D	0.96323	0.9238	10	0.72032	D	0.01	.	15.8844	0.79232	1.0:0.0:0.0:0.0	.	425;415;254	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	L	112;113;255;416;415;256;254;334	ENSP00000448463:F112L;ENSP00000448706:F113L;ENSP00000450266:F255L;ENSP00000378400:F416L;ENSP00000340184:F415L;ENSP00000448779:F256L;ENSP00000450087:F254L	ENSP00000340184:F415L	F	-	1	0	LIMA1	48861985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.218000	0.71995	0.533000	0.62120	TTC		0.488	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		G	50575718	A	G	50575718	3	3	1	1	0	0	0	0	1	0	0	0	8796	72	3	2	1044	2	LIMA1	12	50575718	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10		50575718	83276177	38	38											
ALKBH2	121642	broad.mit.edu;ucsc.edu	37	chr12	109526037	109526037	+	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	tttagtaagcaaaattttacGaaaagtcagattcacccgtg	15	12	7	7	2	2	1	2	0	0	1	2	2	2	1	1	0	2	2	1	0	7	6	rs373220366		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr12:109526037G>A	ENST00000429722.2	-	4	1123	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	ALKBH2_ENST00000343075.3_Missense_Mutation_p.R254C|ALKBH2_ENST00000440112.2_3'UTR	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	254	Alpha-ketoglutarate binding.|Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	AAAATTTTACGAAAAGTCAGA	0.428								Direct reversal of damage																														.											0								G	CYS/ARG,CYS/ARG,CYS/ARG,,	0,4406		0,0,2203	72	77	75		760,760,760,,	3.7	0.1	12		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,utr-3,utr-3	ALKBH2	NM_001001655.2,NM_001145374.1,NM_001145375.1,NM_001205179.1,NM_001205180.1	180,180,180,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,,	254/262,254/262,254/262,,	109526037	1,13005	2203	4300	6503	SO:0001583	missense	121642			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.760C>T	12.37:g.109526037G>A	ENSP00000398181:p.Arg254Cys		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774679	0.49786	0.0	1.16E-4	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370	T;T	0.75260	-0.92;-0.92	5.62	3.74	0.42951	Oxoglutarate/iron-dependent oxygenase (2);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93711	0.7024	10	0.87932	D	0	-10.7766	14.1155	0.65151	0.0:0.0:0.6126:0.3874	.	254	Q6NS38	ALKB2_HUMAN	C	254	ENSP00000398181:R254C;ENSP00000343021:R254C	ENSP00000343021:R254C	R	-	1	0	ALKBH2	108010420	1.000000	0.71417	0.126000	0.21872	0.478000	0.33099	3.442000	0.52900	0.670000	0.31165	0.655000	0.94253	CGT		0.428	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		A	109526037	G	A	109526037	3	1	1	1	0	0	0	0	1	0	0	0	527	1058	37	1	29	1	ALKBH2	12	109526037	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	58950319	109526037	24325858	39	39											
HERC2	8924	broad.mit.edu	37	chr15	28447318	28447318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcagaatactcgtcggAcaccgtgtctgcatctgaga	9	10	10	12	4	3	2	1	1	2	2	6	4	3	3	1	1	2	1	1	1	2	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:28447318A>G	ENST00000261609.7	-	47	7666	c.7558T>C	c.(7558-7560)Tcc>Ccc	p.S2520P		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)		TACTCGTCGGACACCGTGTCT	0.612																																						.											0													12	12	12					15																	28447318		2183	4260	6443	SO:0001583	missense	8924			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.7558T>C	15.37:g.28447318A>G	ENSP00000261609:p.Ser2520Pro			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.576880	0.45902	.	.	ENSG00000128731	ENST00000261609	T	0.41758	0.99	4.49	4.49	0.54785	.	0.121312	0.56097	D	0.000023	T	0.53546	0.1803	L	0.44542	1.39	0.80722	D	1	D	0.54601	0.967	D	0.65874	0.939	T	0.50617	-0.8807	10	0.37606	T	0.19	.	14.2901	0.66270	1.0:0.0:0.0:0.0	.	2520	O95714	HERC2_HUMAN	P	2520	ENSP00000261609:S2520P	ENSP00000261609:S2520P	S	-	1	0	HERC2	26120913	1.000000	0.71417	0.982000	0.44146	0.091000	0.18340	9.120000	0.94369	2.026000	0.59711	0.374000	0.22700	TCC		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28447318	A	G	28447318	3	3	1	1	0	0	0	0	1	0	0	0	7058	275	10	2	7134	2	HERC2	15	28447318	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10		28447318	74084074	40	40											
MESDC1	59274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	81295653	81295653	+	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	tctcaggctttaagggagagGtcttcgcccaggactttacc	8	11	11	11	1	2	1	1	0	2	1	4	3	2	2	2	4	1	1	2	4	2	5	rs527572667		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:81295653G>A	ENST00000267984.2	+	1	2359	c.1041G>A	c.(1039-1041)agG>agA	p.R347R		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	347										endometrium(1)|lung(2)	3						TAAGGGAGAGGTCTTCGCCCA	0.567																																						.											0													17	23	21					15																	81295653		2136	4266	6402	SO:0001819	synonymous_variant	59274			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.1041G>A	15.37:g.81295653G>A				Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																				0.567	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		A	81295653	G	A	81295653	2	1	1	1	0	0	0	0	0	0	0	1	9480	1252	44	3		3	MESDC1	15	81295653	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10	52848335	81295653	21235739	41	41											
NTRK3	4916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	88727494	88727494	+	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	tagagctccatgtccacggcGttgagcgtgtgaagactgcg	8	9	14	10	4	0	4	0	2	0	2	2	4	2	4	2	1	3	2	2	1	2	2	rs536176882		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:88727494G>A	ENST00000360948.2	-	3	446	c.285C>T	c.(283-285)aaC>aaT	p.N95N	NTRK3_ENST00000357724.2_Silent_p.N95N|NTRK3_ENST00000394480.2_Silent_p.N95N|NTRK3_ENST00000540489.2_Silent_p.N95N|NTRK3_ENST00000558676.1_Silent_p.N95N|NTRK3_ENST00000542733.2_De_novo_Start_OutOfFrame|NTRK3_ENST00000557856.1_Silent_p.N95N|NTRK3_ENST00000355254.2_Silent_p.N95N|NTRK3_ENST00000317501.3_Silent_p.N95N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	95					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTCCACGGCGTTGAGCGTGT	0.577			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G|||	1	0.000199681	0	0	5008	,	,		14678	0		0	False		,,,				2504	0.001					.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													106	78	87					15																	88727494		2201	4299	6500	SO:0001819	synonymous_variant	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.285C>T	15.37:g.88727494G>A			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																				0.577	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88727494	G	A	88727494	2	1	1	1	0	0	0	0	0	0	0	1	10708	1136	40	1		1	NTRK3	15	88727494	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10	7431841	88727494	13803898	42	42											
KATNB1	10300	ucsc.edu	37	chr16	57788846	57788846	+	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	ttccttttgcctccagacgcAgccacagcaaaggaggcagc	10	7	10	14	1	0	1	0	0	0	1	2	2	2	2	4	2	4	3	4	2	1	3			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr16:57788846A>G	ENST00000379661.3	+	14	1625	c.1233A>G	c.(1231-1233)gcA>gcG	p.A411A		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)				CTCCAGACGCAGCCACAGCAA	0.612																																						.											0													123	128	126					16																	57788846		2198	4300	6498	SO:0001819	synonymous_variant	10300			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.1233A>G	16.37:g.57788846A>G				Silent	SNP	ENST00000379661.3	37	CCDS10788.1																																																																																				0.612	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			G	57788846	A	G	57788846	2	3	1	1	0	0	0	0	0	0	0	1	7987	175	7	2		2	KATNB1	16	57788846	Silent	SNP	A	TCGA-KL-8323-01A-21D-2310-10		57788846	32565907	43	43											
PRMT7	54496	ucsc.edu	37	chr16	68373380	68373380	+	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	gttgacgtggagagctgcccTggcgcaccctctgtctgtga	5	10	14	12	2	2	3	0	2	2	1	2	4	2	3	2	2	2	3	2	2	0	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr16:68373380T>C	ENST00000339507.5	+	8	1490	c.660T>C	c.(658-660)ccT>ccC	p.P220P	PRMT7_ENST00000348497.4_Silent_p.P146P|PRMT7_ENST00000441236.1_Silent_p.P170P|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Silent_p.P170P			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	220	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)			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)		AGAGCTGCCCTGGCGCACCCT	0.592																																						.											0													113	88	96					16																	68373380		2198	4300	6498	SO:0001819	synonymous_variant	54496			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.660T>C	16.37:g.68373380T>C			B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Silent	SNP	ENST00000339507.5	37	CCDS10866.1																																																																																				0.592	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		C	68373380	T	C	68373380	2	2	1	1	0	0	0	0	0	0	0	1	12541	1567	55	2		2	PRMT7	16	68373380	Silent	SNP	T	TCGA-KL-8323-01A-21D-2310-10	10584534	68373380	21981373	44	44											
TNFSF13	8741	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr17	7462433	7462433	+	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	gggcccagtcagagagccggCactctcagttgccctctggt	6	8	13	14	1	3	1	2	0	2	1	4	2	3	1	3	3	2	2	3	3	0	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:7462433C>T	ENST00000338784.4	+	1	520	c.77C>T	c.(76-78)gCa>gTa	p.A26V	TNFSF13_ENST00000483039.1_Intron|TNFSF13_ENST00000349228.4_Missense_Mutation_p.A26V|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000380535.4_Missense_Mutation_p.A26V|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396545.4_Missense_Mutation_p.A26V|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000396542.1_Missense_Mutation_p.A9V	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	26					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				AGAGAGCCGGCACTCTCAGTT	0.632																																						.											0													25	29	28					17																	7462433		2195	4289	6484	SO:0001583	missense	8741			AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.77C>T	17.37:g.7462433C>T	ENSP00000343505:p.Ala26Val		A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Missense_Mutation	SNP	ENST00000338784.4	37	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756550	0.69648	.	.	ENSG00000161955	ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;T;T;D;D;D;D	0.98914	-5.18;0.9;0.9;-4.48;-4.29;-5.23;-4.3	5.17	4.18	0.49190	.	.	.	.	.	D	0.98738	0.9576	M	0.66939	2.045	0.33660	D	0.609558	D;D;D;D;D	0.71674	0.997;0.997;0.996;0.997;0.998	D;D;D;D;D	0.80764	0.985;0.985;0.99;0.985;0.994	D	0.99954	1.1603	9	0.72032	D	0.01	.	11.951	0.52954	0.0:0.8246:0.1754:0.0	.	26;26;26;26;26	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3	.;.;.;TNF13_HUMAN;.	V	9;9;9;26;26;26;26	ENSP00000379792:A9V;ENSP00000390771:A9V;ENSP00000410094:A9V;ENSP00000314455:A26V;ENSP00000343505:A26V;ENSP00000369908:A26V;ENSP00000379794:A26V	ENSP00000343505:A26V	A	+	2	0	TNFSF13	7403157	0.961000	0.32948	1.000000	0.80357	0.960000	0.62799	3.662000	0.54510	1.272000	0.44329	0.655000	0.94253	GCA		0.632	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808		T	7462433	C	T	7462433	3	4	1	1	0	0	0	0	1	0	0	0	16302	710	25	4	79	4	TNFSF13	17	7462433	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10		7462433	73732777	45	45											
MAPK7	5598	broad.mit.edu;mdanderson.org	37	chr17	19284374	19284374	+	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	ctgggtaccccatcaccagcCgtgattcaggctgtgggggc	6	8	14	13	1	2	1	2	1	0	0	2	1	2	1	4	4	2	2	4	4	1	2	rs145605078		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:19284374C>T	ENST00000308406.5	+	4	1238	c.852C>T	c.(850-852)gcC>gcT	p.A284A	MAPK7_ENST00000395602.4_Silent_p.A284A|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Silent_p.A145A|MFAP4_ENST00000574313.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Silent_p.A284A	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	284	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					CATCACCAGCCGTGATTCAGG	0.607																																						.											0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	36	39	38		852,435,852,852	-5.6	0.4	17	dbSNP_134	38	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAPK7	NM_002749.3,NM_139032.2,NM_139033.2,NM_139034.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	284/817,145/678,284/817,284/817	19284374	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5598			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.852C>T	17.37:g.19284374C>T			Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	CCDS11206.1																																																																																				0.607	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		T	19284374	C	T	19284374	2	4	1	1	0	0	0	0	0	0	0	1	9282	639	23	1		1	MAPK7	17	19284374	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10	11821941	19284374	61910836	46	46											
SPAG5	10615	broad.mit.edu	37	chr17	26910630	26910630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgttttctccagatcttGctcctggttatctgctatgg	4	17	9	11	1	3	1	0	0	3	1	5	1	4	1	3	2	2	4	3	2	2	5			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:26910630G>T	ENST00000321765.5	-	15	2916	c.2584C>A	c.(2584-2586)Caa>Aaa	p.Q862K		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	862					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)					TCCAGATCTTGCTCCTGGTTA	0.463																																						.											0													166	145	152					17																	26910630		2203	4300	6503	SO:0001583	missense	10615			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.2584C>A	17.37:g.26910630G>T	ENSP00000323300:p.Gln862Lys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933531	0.34096	.	.	ENSG00000076382;ENSG00000258472	ENST00000321765;ENST00000531839	T;T	0.32515	1.45;1.45	5.17	3.07	0.35406	.	0.687189	0.13323	N	0.396492	T	0.24774	0.0601	L	0.32530	0.975	0.21290	N	0.999732	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.001	T	0.22977	-1.0201	10	0.87932	D	0	0.2695	11.0107	0.47661	0.0:0.0:0.627:0.373	.	267;862	E9PMD0;Q96R06	.;SPAG5_HUMAN	K	862;267	ENSP00000323300:Q862K;ENSP00000431165:Q267K	ENSP00000431165:Q267K	Q	-	1	0	SPAG5;RP11-192H23.4	23934757	0.966000	0.33281	0.403000	0.26384	0.941000	0.58515	1.752000	0.38349	0.740000	0.32651	0.650000	0.86243	CAA		0.463	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		T	26910630	G	T	26910630	3	4	1	1	0	0	0	0	1	0	0	0	14981	1328	46	5	1037	5	SPAG5	17	26910630	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	7626256	26910630	54284580	47	47											
SOCS7	30837	broad.mit.edu	37	chr17	36520640	36520640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgaatccctcaggtgaaActgtgtcgcttgtggatgtg	8	12	12	9	1	1	2	1	2	0	0	3	3	2	3	2	2	1	1	2	2	2	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:36520640A>G	ENST00000577233.1	+	3	859	c.859A>G	c.(859-861)Act>Gct	p.T287A	SOCS7_ENST00000331159.5_Missense_Mutation_p.T287A	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	287	Mediates interaction with SORBS3.				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)					CTCAGGTGAAACTGTGTCGCT	0.572																																						.											0													145	123	130					17																	36520640		2203	4300	6503	SO:0001583	missense	30837			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.859A>G	17.37:g.36520640A>G	ENSP00000464034:p.Thr287Ala		A2VCU2|Q0IJ63	Missense_Mutation	SNP	ENST00000577233.1	37	CCDS32637.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594183	0.28445	.	.	ENSG00000174111	ENST00000331159	T	0.66815	-0.23	6.06	4.96	0.65561	.	1.199420	0.05838	N	0.618771	T	0.67748	0.2926	L	0.58101	1.795	0.51233	D	0.999913	P;P	0.41393	0.748;0.748	B;B	0.38842	0.283;0.283	T	0.55617	-0.8113	10	0.54805	T	0.06	-6.8465	13.1442	0.59452	0.8664:0.1336:0.0:0.0	.	37;287	B5MDS8;O14512	.;SOCS7_HUMAN	A	287	ENSP00000330659:T287A	ENSP00000330659:T287A	T	+	1	0	SOCS7	33774166	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.858000	0.92256	1.077000	0.40990	0.533000	0.62120	ACT		0.572	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		G	36520640	A	G	36520640	3	3	1	1	0	0	0	0	1	0	0	0	14919	43	2	2	869	2	SOCS7	17	36520640	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	9610010	36520640	44674570	48	48											
KRT20	54474	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr17	39041356	39041356	+	Missense_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	gctgggtgtcgtcccgaggcGctgcatgcccactgtactga	5	9	14	13	3	0	1	0	1	0	0	2	2	1	1	2	2	3	4	2	2	1	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597																																						.											0													36	36	36					17																	39041356		2203	4300	6503	SO:0001583	missense	54474			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.82C>T	17.37:g.39041356G>A	ENSP00000167588:p.Arg28Cys		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077922	0.55753	.	.	ENSG00000171431	ENST00000167588	D	0.84070	-1.8	5.17	1.94	0.25998	.	1.630110	0.03448	N	0.210284	T	0.69842	0.3156	N	0.14661	0.345	0.09310	N	0.99999	B	0.10296	0.003	B	0.04013	0.001	T	0.58323	-0.7656	10	0.38643	T	0.18	.	4.8168	0.13371	0.0849:0.1149:0.5878:0.2124	.	28	P35900	K1C20_HUMAN	C	28	ENSP00000167588:R28C	ENSP00000167588:R28C	R	-	1	0	KRT20	36294882	0.999000	0.42202	0.609000	0.28983	0.014000	0.08584	1.653000	0.37323	1.332000	0.45431	0.655000	0.94253	CGC		0.597	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			A	39041356	G	A	39041356	3	1	1	1	0	0	0	0	1	0	0	0	8458	1087	38	1	1224	1	KRT20	17	39041356	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	2520716	39041356	42153854	49	49											
ITGA3	3675	bcgsc.ca	37	chr17	48165656	48165656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcagaaggcggagatgaAgagccagccgtcagagacag	14	2	17	8	2	1	5	1	1	0	4	1	8	1	5	2	3	2	1	2	3	2	0			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:48165656A>G	ENST00000320031.8	+	25	3443	c.3113A>G	c.(3112-3114)aAg>aGg	p.K1038R	ITGA3_ENST00000007722.7_Intron	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)	1038					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						GCGGAGATGAAGAGCCAGCCG	0.682																																						.											0													14	16	15					17																	48165656		2183	4271	6454	SO:0001583	missense	3675			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.3113A>G	17.37:g.48165656A>G	ENSP00000315190:p.Lys1038Arg		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	A	7.011	0.556719	0.13436	.	.	ENSG00000005884	ENST00000538917;ENST00000320031	T	0.23348	1.91	5.1	1.61	0.23674	.	.	.	.	.	T	0.06462	0.0166	N	0.01352	-0.895	0.80722	D	1	B	0.18461	0.028	B	0.13407	0.009	T	0.36480	-0.9746	9	0.02654	T	1	.	7.2659	0.26229	0.7307:0.0:0.2693:0.0	.	1038	P26006	ITA3_HUMAN	R	1024;1038	ENSP00000315190:K1038R	ENSP00000315190:K1038R	K	+	2	0	ITGA3	45520655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.238000	0.51352	0.264000	0.21851	0.379000	0.24179	AAG		0.682	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		G	48165656	A	G	48165656	3	3	1	1	0	0	0	0	1	0	0	0	7877	72	3	2	3211	2	ITGA3	17	48165656	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10	9124300	48165656	33029554	50	50											
SMURF2	64750	bcgsc.ca	37	chr17	62579654	62579654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaggcggttctccttTcttcccagcttaaataaaaa	11	13	6	11	1	2	1	0	0	2	1	5	1	4	1	3	2	1	2	3	2	5	6			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:62579654T>C	ENST00000262435.9	-	7	681	c.494A>G	c.(493-495)gAa>gGa	p.E165G	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	165	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			GGTTCTCCTTTCTTCCCAGCT	0.398																																						.											0													113	98	103					17																	62579654		2203	4300	6503	SO:0001583	missense	64750			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.494A>G	17.37:g.62579654T>C	ENSP00000262435:p.Glu165Gly		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.585245	0.46110	.	.	ENSG00000108854	ENST00000262435	D	0.85171	-1.95	5.06	5.06	0.68205	WW/Rsp5/WWP (5);	0.093513	0.64402	D	0.000001	D	0.88941	0.6574	M	0.93720	3.45	0.80722	D	1	B	0.22983	0.078	B	0.22880	0.042	D	0.87742	0.2586	10	0.44086	T	0.13	.	15.1061	0.72322	0.0:0.0:0.0:1.0	.	165	Q9HAU4	SMUF2_HUMAN	G	165	ENSP00000262435:E165G	ENSP00000262435:E165G	E	-	2	0	SMURF2	60010116	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.359000	0.79477	2.024000	0.59613	0.477000	0.44152	GAA		0.398	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		C	62579654	T	C	62579654	3	2	1	1	0	0	0	0	1	0	0	0	14820	1783	62	4	1804	4	SMURF2	17	62579654	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	14413998	62579654	18615556	51	51											
GAA	2548	broad.mit.edu	37	chr17	78082576	78082576	+	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	gatggcttccgggacttcccGgccatggtgcaggagctgca	6	8	15	12	2	0	0	0	0	0	0	2	3	2	2	3	5	3	4	3	5	0	2			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:78082576G>A	ENST00000302262.3	+	8	1494	c.1275G>A	c.(1273-1275)ccG>ccA	p.P425P	GAA_ENST00000390015.3_Silent_p.P425P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	425					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGGACTTCCCGGCCATGGTGC	0.647																																						.											0													25	21	23					17																	78082576		2198	4298	6496	SO:0001819	synonymous_variant	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1275G>A	17.37:g.78082576G>A			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	CCDS32760.1																																																																																				0.647	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			A	78082576	G	A	78082576	2	1	1	1	0	0	0	0	0	0	0	1	6147	1103	39	1		1	GAA	17	78082576	Silent	SNP	G	TCGA-KL-8323-01A-21D-2310-10	15502922	78082576	3112634	52	52											
LMAN1	3998	broad.mit.edu	37	chr18	57022610	57022610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagatcagctgatccaaAcacagggccctccaagcctt	12	6	7	16	0	1	2	1	1	0	1	3	2	3	2	5	1	3	1	5	1	2	1			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr18:57022610A>G	ENST00000251047.5	-	3	1129	c.412T>C	c.(412-414)Ttt>Ctt	p.F138L		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	138	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GCTGATCCAAACACAGGGCCC	0.368																																						.											0													86	78	80					18																	57022610		2203	4300	6503	SO:0001583	missense	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.412T>C	18.37:g.57022610A>G	ENSP00000251047:p.Phe138Leu		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.918353	0.92249	.	.	ENSG00000074695	ENST00000251047	T	0.75589	-0.95	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.060560	0.64402	D	0.000001	D	0.85331	0.5672	M	0.78344	2.41	0.58432	D	0.999999	P;B	0.36753	0.568;0.197	P;B	0.55871	0.786;0.413	D	0.85384	0.1121	10	0.49607	T	0.09	-15.3839	15.338	0.74273	1.0:0.0:0.0:0.0	.	138;138	B4DVV0;P49257	.;LMAN1_HUMAN	L	138	ENSP00000251047:F138L	ENSP00000251047:F138L	F	-	1	0	LMAN1	55173590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.691000	0.91279	2.099000	0.63709	0.533000	0.62120	TTT		0.368	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		G	57022610	A	G	57022610	3	3	1	1	0	0	0	0	1	0	0	0	8836	43	2	2	1164	2	LMAN1	18	57022610	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10		57022610	21054638	53	53											
HMHA1	23526	broad.mit.edu;mdanderson.org	37	chr19	1084344	1084344	+	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	gcggcggcggacgggtgcagAggtgagtgtgtggctgcccg	4	6	22	9	5	0	2	0	1	0	1	0	3	0	3	1	6	2	2	1	6	0	0			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:1084344A>G	ENST00000313093.2	+	22	3294	c.3063A>G	c.(3061-3063)agA>agG	p.R1021R	HMHA1_ENST00000590577.1_Splice_Site_p.R656R|HMHA1_ENST00000543365.1_Splice_Site_p.R904R|HMHA1_ENST00000536472.1_Splice_Site_p.R889R|HMHA1_ENST00000539243.2_Splice_Site_p.R1037R|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000586866.1_Splice_Site_p.R1025R|HMHA1_ENST00000590214.1_Splice_Site_p.R1048R	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1021					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)		ACGGGTGCAGAGGTGAGTGTG	0.682																																						.											0													36	39	38					19																	1084344		2200	4299	6499	SO:0001630	splice_region_variant	23526			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.3064+1A>G	19.37:g.1084344A>G			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																				0.682	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		Silent	G	1084344	A	G	1084344	5	3	1	1	0	0	0	0	0	0	1	0	7240	318	11	2	3149	2	HMHA1	19	1084344	Splice_Site	SNP	A	TCGA-KL-8323-01A-21D-2310-10		1084344	58044639	54	54											
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	13476272	13476272	+	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	cttcatgatcgacttcaggaCgacttgtaaacctgggggga	10	10	12	9	2	2	1	2	1	0	0	3	5	2	3	1	4	1	1	1	4	2	4			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:13476272C>T	ENST00000360228.5	-	5	642	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V215I	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	215					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)	GACTTCAGGACGACTTGTAAA	0.502																																						.											0													47	47	47					19																	13476272		1920	4135	6055	SO:0001583	missense	773			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.643G>A	19.37:g.13476272C>T	ENSP00000353362:p.Val215Ile		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636162	0.67130	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98381	-4.9	5.55	4.52	0.55395	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97303	0.9118	L	0.57536	1.79	0.46356	D	0.999	P;D	0.58268	0.951;0.982	B;P	0.47941	0.32;0.562	D	0.96952	0.9695	10	0.72032	D	0.01	.	13.3098	0.60374	0.0:0.9229:0.0:0.0771	.	215;215	O00555;Q9NS88	CAC1A_HUMAN;.	I	215	ENSP00000353362:V215I	ENSP00000317661:V215I	V	-	1	0	CACNA1A	13337272	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.585000	0.82584	1.347000	0.45714	-0.136000	0.14681	GTC		0.502	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13476272	C	T	13476272	3	4	1	1	0	0	0	0	1	0	0	0	2538	536	19	1	7163	1	CACNA1A	19	13476272	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10	12391928	13476272	45652711	55	55											
ZNF257	113835	broad.mit.edu	37	chr19	22256335	22256335	+	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	ggaaaagagccctgtaatatGaagagacatgagatggtagc	16	7	13	5	0	0	4	0	2	0	3	0	7	0	5	1	2	2	2	1	2	6	3			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:22256335G>A	ENST00000594947.1	+	3	339	c.195G>A	c.(193-195)atG>atA	p.M65I	ZNF257_ENST00000600162.1_Missense_Mutation_p.M65I	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	65	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)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTGTAATATGAAGAGACATG	0.448																																						.											0													139	151	147					19																	22256335		2203	4300	6503	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.195G>A	19.37:g.22256335G>A	ENSP00000470209:p.Met65Ile		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	0.570	-0.841484	0.02692	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.195	-0.39	0.12450	Krueppel-associated box (1);	.	.	.	.	T	0.14184	0.0343	N	0.04387	-0.21	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.19224	-1.0312	7	0.35671	T	0.21	.	.	.	.	.	65	Q9Y2Q1	ZN257_HUMAN	I	65	.	ENSP00000380312:M65I	M	+	3	0	ZNF257	22048175	0.005000	0.15991	0.022000	0.16811	0.022000	0.10575	0.268000	0.18571	-0.697000	0.05092	-0.683000	0.03753	ATG		0.448	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			A	22256335	G	A	22256335	3	1	1	1	0	0	0	0	1	0	0	0	17797	1290	45	4	205	4	ZNF257	19	22256335	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	8780063	22256335	36872648	56	56											
FFAR1	2864	broad.mit.edu	37	chr19	35842701	35842701	+	Missense_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	cctcgctgtgccccgtcttcGcggtggcccacttcttccca	2	11	9	19	4	2	0	0	0	2	0	5	0	3	0	5	2	1	1	5	2	0	3			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:35842701G>A	ENST00000246553.2	+	1	257	c.247G>A	c.(247-249)Gcg>Acg	p.A83T		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	83					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)	CCCCGTCTTCGCGGTGGCCCA	0.701																																						.											0													13	13	13					19																	35842701		2192	4282	6474	SO:0001583	missense	2864			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.247G>A	19.37:g.35842701G>A	ENSP00000246553:p.Ala83Thr		Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	G	9.563	1.119086	0.20877	.	.	ENSG00000126266	ENST00000246553	T	0.37411	1.2	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.409722	0.23997	U	0.042504	T	0.15435	0.0372	N	0.12569	0.235	0.09310	N	1	P	0.48162	0.906	B	0.37650	0.255	T	0.10753	-1.0616	10	0.09338	T	0.73	-4.6107	8.5191	0.33264	0.1038:0.0:0.8962:0.0	.	83	O14842	FFAR1_HUMAN	T	83	ENSP00000246553:A83T	ENSP00000246553:A83T	A	+	1	0	FFAR1	40534541	0.005000	0.15991	0.012000	0.15200	0.003000	0.03518	1.884000	0.39668	2.375000	0.81037	0.555000	0.69702	GCG		0.701	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		A	35842701	G	A	35842701	3	1	1	1	0	0	0	0	1	0	0	0	5827	1087	38	1	249	1	FFAR1	19	35842701	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	13586366	35842701	23286282	57	57											
WDR62	284403	broad.mit.edu;hgsc.bcm.edu	37	chr19	36558850	36558851	+	Frame_Shift_Ins	INS	-	-	AC																															cagtaccttctgtgtgtcctINSactcgggcctcctctgccag																										TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:36558850_36558851insAC	ENST00000270301.7	+	7	820_821	c.820_821insAC	c.(820-822)tacfs	p.Y274fs	WDR62_ENST00000401500.2_Frame_Shift_Ins_p.Y274fs|WDR62_ENST00000388999.3_Frame_Shift_Ins_p.Y274fs|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	274					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)			CTGTGTGTCCTACTCGGGCCTC	0.599																																						.											0																																										SO:0001589	frameshift_variant	284403			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.821_822dupAC	19.37:g.36558851_36558852dupAC	ENSP00000270301:p.Tyr274fs		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Frame_Shift_Ins	INS	ENST00000270301.7	37	CCDS33001.1																																																																																				0.599	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		AC	36558851	-	AC	36558850	7	5	1	1	0	1	1	0	0	0	0	0	17310	1522	53	0	846	0	WDR62	19	36558850	Frame_Shift_Ins	INS	-	TCGA-KL-8323-01A-21D-2310-10	716149	36558850	22570133	58	58	1	2									
WDR62	284403	bcgsc.ca	37	chr19	36558851	36558852	+	Frame_Shift_Ins	INS	-	-	AC																															agtaccttctgtgtgtcctaINSctcgggcctcctctgccagt																										TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:36558851_36558852insAC	ENST00000270301.7	+	7	821_822	c.821_822insAC	c.(820-825)tactcgfs	p.YS274fs	WDR62_ENST00000401500.2_Frame_Shift_Ins_p.YS274fs|WDR62_ENST00000388999.3_Frame_Shift_Ins_p.YS274fs|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	274					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)			TGTGTGTCCTACTCGGGCCTCC	0.599																																						.											0																																										SO:0001589	frameshift_variant	284403			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	Exception_encountered	19.37:g.36558851_36558852insAC	ENSP00000270301:p.Tyr274fs		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Nonsense_Mutation	INS	ENST00000270301.7	37	CCDS33001.1																																																																																				0.599	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		AC	36558852	-	AC	36558851	7	5	1	1	0	1	1	0	0	0	0	0	17310	391	14	0	847	0	WDR62	19	36558851	Frame_Shift_Ins	INS	-	TCGA-KL-8323-01A-21D-2310-10	1	36558851	22570132	59	59	1	2									
HM13	81502	bcgsc.ca	37	chr20	30149459	30149459	+	Missense_Mutation	SNP	T	T	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	tgaagaagaatacccacaccTacttctacaccagctttgca	14	9	5	13	0	1	3	0	1	1	2	1	3	1	3	3	0	5	2	3	0	6	5			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr20:30149459T>C	ENST00000340852.5	+	10	992	c.868T>C	c.(868-870)Tac>Cac	p.Y290H	HM13-IT1_ENST00000421894.1_RNA|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000335574.5_Missense_Mutation_p.Y290H|HM13_ENST00000376127.3_Missense_Mutation_p.Y248H|HM13_ENST00000398174.3_Missense_Mutation_p.Y290H	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	290					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TACCCACACCTACTTCTACAC	0.502																																						.											0													240	168	192					20																	30149459		2203	4300	6503	SO:0001583	missense	81502			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"signal peptide peptidase beta", "presenilin-like protein 3", "intramembrane protease", "signal peptide peptidase like 1"	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.868T>C	20.37:g.30149459T>C	ENSP00000343032:p.Tyr290His		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926434	0.92319	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.988	D	0.88395	0.3011	10	0.72032	D	0.01	-23.9758	15.4114	0.74923	0.0:0.0:0.0:1.0	.	290;290;290	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	H	290;290;290;248;248	ENSP00000335294:Y290H;ENSP00000343032:Y290H;ENSP00000381237:Y290H;ENSP00000365296:Y248H;ENSP00000341347:Y248H	ENSP00000335294:Y290H	Y	+	1	0	HM13	29613120	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.387000	0.79785	2.228000	0.72767	0.533000	0.62120	TAC		0.502	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		C	30149459	T	C	30149459	3	2	1	1	0	0	0	0	1	0	0	0	7217	1522	53	2	973	2	HM13	20	30149459	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10		30149459	32876061	60	60											
PATZ1	23598	broad.mit.edu	37	chr22	31741114	31741114	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaggatctgtacgttggActgtttgatgacttcctggc	7	14	11	9	1	1	2	0	2	1	0	2	4	2	4	2	3	2	3	2	3	2	5			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr22:31741114A>G	ENST00000266269.5	-	1	1104	c.475T>C	c.(475-477)Tcc>Ccc	p.S159P	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Missense_Mutation_p.S159P|PATZ1_ENST00000405309.3_Missense_Mutation_p.S159P|PATZ1_ENST00000351933.4_Missense_Mutation_p.S159P	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	159					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TGTACGTTGGACTGTTTGATG	0.577																																						.											0													142	150	147					22																	31741114		2203	4300	6503	SO:0001583	missense	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.475T>C	22.37:g.31741114A>G	ENSP00000266269:p.Ser159Pro		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683389	0.68157	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	4.1	4.1	0.47936	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (1);	0.117336	0.64402	D	0.000013	T	0.78130	0.4235	M	0.62723	1.935	0.58432	D	0.999998	D;D;D;D	0.76494	0.994;0.994;0.999;0.994	P;P;D;P	0.83275	0.81;0.81;0.996;0.81	T	0.80190	-0.1485	10	0.66056	D	0.02	-16.0422	12.5937	0.56456	1.0:0.0:0.0:0.0	.	159;159;159;159	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	P	159	ENSP00000266269:S159P;ENSP00000384173:S159P;ENSP00000337520:S159P;ENSP00000215919:S159P	ENSP00000215919:S159P	S	-	1	0	PATZ1	30071114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.863000	0.69568	1.635000	0.50512	0.459000	0.35465	TCC		0.577	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		G	31741114	A	G	31741114	3	3	1	1	0	0	0	0	1	0	0	0	11476	275	10	2	1891	2	PATZ1	22	31741114	Missense_Mutation	SNP	A	TCGA-KL-8323-01A-21D-2310-10		31741114	19563452	61	61											
SFI1	9814	broad.mit.edu;ucsc.edu	37	chr22	32000342	32000342	+	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	cagaagctgatgcgagcagaCctgcaccaccagcacagcgt	12	4	11	14	2	0	3	0	1	0	2	0	4	0	3	3	0	6	4	3	0	1	0			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr22:32000342C>T	ENST00000400288.2	+	19	2034	c.1929C>T	c.(1927-1929)gaC>gaT	p.D643D	SFI1_ENST00000400289.1_Silent_p.D561D|SFI1_ENST00000443011.1_Silent_p.D490D|SFI1_ENST00000414585.1_Silent_p.D490D|SFI1_ENST00000540643.1_Silent_p.D588D|SFI1_ENST00000443326.1_Silent_p.D561D|SFI1_ENST00000432498.1_Silent_p.D612D	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	643	Interaction with CETN2.				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						TGCGAGCAGACCTGCACCACC	0.647											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											0													13	18	16					22																	32000342		2085	4216	6301	SO:0001819	synonymous_variant	9814			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.1929C>T	22.37:g.32000342C>T		829	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	CCDS43004.1																																																																																				0.647	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		T	32000342	C	T	32000342	2	4	1	1	0	0	0	0	0	0	0	1	14156	506	18	3		3	SFI1	22	32000342	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10	259228	32000342	19304224	62	62											
CXorf59	286464	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	36117961	36117961	+	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	aatttgaagcctggagtaaaCgggcatggacagatgtattt	13	11	12	5	1	0	2	0	1	0	1	0	4	0	4	1	3	2	3	1	3	5	4			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:36117961C>T	ENST00000313548.4	+	7	1003	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	273						integral component of membrane (GO:0016021)											CTGGAGTAAACGGGCATGGAC	0.333																																						.											0													101	111	108					X																	36117961		2202	4299	6501	SO:0001583	missense	286464			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.817C>T	X.37:g.36117961C>T	ENSP00000324767:p.Arg273Trp			Missense_Mutation	SNP	ENST00000313548.4	37	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532042	0.45073	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	1.91	0.25777	.	0.000000	0.52532	D	0.000062	T	0.24661	0.0598	L	0.59436	1.845	0.23862	N	0.996633	P	0.47962	0.903	B	0.34722	0.188	T	0.33574	-0.9863	9	0.87932	D	0	-5.3905	3.2514	0.06815	0.1409:0.5656:0.1339:0.1596	.	273	Q8N9S7	CX059_HUMAN	W	273	.	ENSP00000324767:R273W	R	+	1	2	CXorf59	36027882	1.000000	0.71417	0.997000	0.53966	0.868000	0.49771	0.524000	0.22940	-0.049000	0.13379	0.506000	0.49869	CGG		0.333	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		T	36117961	C	T	36117961	3	4	1	1	0	0	0	0	1	0	0	0	4115	527	19	1	839	1	CXorf59	23	36117961	Missense_Mutation	SNP	C	TCGA-KL-8323-01A-21D-2310-10		36117961	119152599	63	63											
USP9X	8239	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	41002593	41002593	+	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	catagtgttgcgagatagtcTtcatcagccacagtatgtag	11	12	10	8	1	3	1	2	0	1	1	3	2	3	1	1	0	2	3	1	0	4	6			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:41002593T>G	ENST00000324545.8	+	10	1844	c.1211T>G	c.(1210-1212)cTt>cGt	p.L404R	USP9X_ENST00000378308.2_Missense_Mutation_p.L404R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	404					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CGAGATAGTCTTCATCAGCCA	0.338																																					Ovarian(172;1807 2695 35459 49286)	.											0													62	56	58					X																	41002593		2004	4199	6203	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1211T>G	X.37:g.41002593T>G	ENSP00000316357:p.Leu404Arg		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041996	0.75732	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.76709	-1.04;-1.04	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86851	0.6032	M	0.81341	2.54	0.80722	D	1	D;D	0.58620	0.964;0.983	P;P	0.61201	0.885;0.771	D	0.88730	0.3236	10	0.72032	D	0.01	.	14.3718	0.66846	0.0:0.0:0.0:1.0	.	404;404	Q93008-1;Q93008	.;USP9X_HUMAN	R	404	ENSP00000367558:L404R;ENSP00000316357:L404R	ENSP00000316357:L404R	L	+	2	0	USP9X	40887537	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.651000	0.83577	1.843000	0.53566	0.339000	0.21740	CTT		0.338	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41002593	T	G	41002593	3	3	1	1	0	0	0	0	1	0	0	0	17087	1609	56	5	1245	5	USP9X	23	41002593	Missense_Mutation	SNP	T	TCGA-KL-8323-01A-21D-2310-10	4884632	41002593	114267967	64	64											
PHF8	23133	hgsc.bcm.edu	37	chrX	54049206	54049206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttactaatggagggcccatGcaagacttcacagttggggc	10	9	12	10	0	1	1	1	0	0	1	1	2	1	2	1	4	2	2	1	4	3	4			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:54049206G>T	ENST00000357988.5	-	3	635	c.277C>A	c.(277-279)Cat>Aat	p.H93N	PHF8_ENST00000322659.8_Missense_Mutation_p.H57N|PHF8_ENST00000338946.6_Missense_Mutation_p.H57N|PHF8_ENST00000338154.6_Missense_Mutation_p.H57N	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	93					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GAGGGCCCATGCAAGACTTCA	0.453																																						.											0													58	44	49					X																	54049206		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.277C>A	X.37:g.54049206G>T	ENSP00000350676:p.His93Asn		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134979	0.77662	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	T;T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.59	5.59	0.84812	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.82630	2.6	0.58432	D	0.999999	P;P	0.48407	0.91;0.861	B;B	0.39590	0.274;0.304	T	0.75039	-0.3458	10	0.62326	D	0.03	-5.8121	17.3188	0.87231	0.0:0.0:1.0:0.0	.	57;93	B7Z911;Q9UPP1	.;PHF8_HUMAN	N	93;57;57;87;57;57;57;57;93;57;57	ENSP00000350676:H93N;ENSP00000338868:H57N;ENSP00000340051:H57N;ENSP00000319473:H57N;ENSP00000408113:H57N;ENSP00000398995:H57N;ENSP00000404117:H57N;ENSP00000405897:H93N;ENSP00000416546:H57N;ENSP00000410100:H57N	ENSP00000319473:H57N	H	-	1	0	PHF8	54065931	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.802000	0.99131	2.357000	0.79964	0.538000	0.68166	CAT		0.453	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		T	54049206	G	T	54049206	3	4	1	1	0	0	0	0	1	0	0	0	11840	1319	46	5	3155	5	PHF8	23	54049206	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	13046613	54049206	101221354	65	65											
ZC4H2	55906	broad.mit.edu;bcgsc.ca	37	chrX	64137684	64137684	+	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	tattcatcctgcttccgtttCggctttttggggttccggga	3	17	11	10	3	1	0	1	0	0	0	5	1	4	1	3	4	1	4	3	4	1	7	rs149235340	byFrequency	TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:64137684C>T	ENST00000374839.3	-	5	760	c.654G>A	c.(652-654)ccG>ccA	p.P218P	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.P195P|ZC4H2_ENST00000545618.1_Silent_p.P213P|ZC4H2_ENST00000447788.2_Missense_Mutation_p.R164Q	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	218					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTTCCGTTTCGGCTTTTTGG	0.488																																						.											0								C	,GLN/ARG,	1,3834		0,1,1631,571	167	104	126		585,491,654	-10.8	0.5	X	dbSNP_134	126	1,6727		0,1,2427,1872	no	coding-synonymous,missense,coding-synonymous	ZC4H2	NM_001178032.2,NM_001178033.2,NM_018684.3	,43,	0,2,4058,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	,,	195/202,164/177,218/225	64137684	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	55906			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.654G>A	X.37:g.64137684C>T			B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421866	0.43020	2.61E-4	1.49E-4	ENSG00000126970	ENST00000447788	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	7	0.66056	D	0.02	.	3.2734	0.06889	0.0948:0.27:0.3669:0.2684	.	164	B4DED0	.	Q	164	.	ENSP00000399126:R164Q	R	-	2	0	ZC4H2	64054409	0.997000	0.39634	0.497000	0.27552	0.994000	0.84299	0.219000	0.17641	-2.224000	0.00725	-0.365000	0.07479	CGA		0.488	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		T	64137684	C	T	64137684	2	4	1	1	0	0	0	0	0	0	0	1	17575	884	31	1		1	ZC4H2	23	64137684	Silent	SNP	C	TCGA-KL-8323-01A-21D-2310-10	10088478	64137684	91132876	66	66											
ATP11C	286410	broad.mit.edu	37	chrX	138823233	138823233	+	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	aagtgatttatccacgtccaGaatcgggtatccaaggcaag	13	9	10	9	2	0	2	0	1	0	1	4	2	3	2	3	2	0	2	3	2	6	3			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:138823233G>C	ENST00000327569.3	-	27	3158	c.3060C>G	c.(3058-3060)ttC>ttG	p.F1020L	ATP11C_ENST00000359686.2_Missense_Mutation_p.F1020L|ATP11C_ENST00000370543.1_Missense_Mutation_p.F1020L|ATP11C_ENST00000361648.2_Missense_Mutation_p.F1020L|ATP11C_ENST00000370557.1_Missense_Mutation_p.F1014L|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1020					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TCCACGTCCAGAATCGGGTAT	0.388																																						.											0													69	61	64					X																	138823233		2203	4300	6503	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3060C>G	X.37:g.138823233G>C	ENSP00000332756:p.Phe1020Leu		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.220727|4.220727	0.79464|0.79464	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000450801;ENST00000370543;ENST00000359686|ENST00000433868	T;T;T;T;T;T|.	0.59083|.	0.29;0.29;0.29;0.29;0.29;0.29|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.102643|.	0.64402|.	D|.	0.000002|.	T|T	0.57184|0.57184	0.2036|0.2036	L|L	0.28504|0.28504	0.86|0.86	0.58432|0.58432	D|D	0.999994|0.999994	B;B;B|.	0.31383|.	0.321;0.215;0.321|.	B;B;B|.	0.35550|.	0.205;0.101;0.205|.	T|T	0.52764|0.52764	-0.8532|-0.8532	10|5	0.49607|.	T|.	0.09|.	.|.	17.4019|17.4019	0.87463|0.87463	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1020;1020;1020|.	Q8NB49-3;Q8NB49;Q8NB49-2|.	.;AT11C_HUMAN;.|.	L|V	1014;1020;1020;84;1020;1020|53	ENSP00000359588:F1014L;ENSP00000355165:F1020L;ENSP00000332756:F1020L;ENSP00000391259:F84L;ENSP00000359574:F1020L;ENSP00000352715:F1020L|.	ENSP00000332756:F1020L|.	F|L	-|-	3|1	2|2	ATP11C|ATP11C	138650899|138650899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.578000|7.578000	0.82498|0.82498	2.323000|2.323000	0.78572|0.78572	0.600000|0.600000	0.82982|0.82982	TTC|CTG		0.388	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138823233	G	C	138823233	3	2	1	1	0	0	0	0	1	0	0	0	1121	933	33	5	417	5	ATP11C	23	138823233	Missense_Mutation	SNP	G	TCGA-KL-8323-01A-21D-2310-10	74685549	138823233	16447327	67	67											
IL28RA	163702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	24484160	24484160	+	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	gaaggtggttcaatgtagggCtggaagctgacgccatcttc	9	10	14	8	1	2	1	1	1	1	0	3	3	2	2	1	4	1	4	1	4	4	3			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:24484160C>A	ENST00000327535.1	-	7	1035	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	IFNLR1_ENST00000374421.3_Missense_Mutation_p.Q312H|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	341					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)											CAATGTAGGGCTGGAAGCTGA	0.612																																						.											0													147	136	140					1																	24484160		2203	4300	6503	SO:0001583	missense	163702			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.1023G>T	1.37:g.24484160C>A	ENSP00000327824:p.Gln341His		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	CCDS248.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510138	0.44660	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.73	1.57	0.23409	.	2.259870	0.01080	N	0.004971	T	0.71745	0.3376	M	0.61703	1.905	0.53005	D	0.999961	D;B	0.76494	0.999;0.328	D;B	0.70716	0.97;0.085	T	0.57562	-0.7790	9	0.51188	T	0.08	-4.6758	4.9948	0.14233	0.2964:0.5395:0.0:0.1641	.	341;312	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	H	341;312	.	ENSP00000327824:Q341H	Q	-	3	2	IL28RA	24356747	0.998000	0.40836	0.999000	0.59377	0.257000	0.26127	0.138000	0.16016	0.389000	0.25086	0.655000	0.94253	CAG		0.612	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		A	24484160	C	A	24484160	3	1	2	1	0	0	0	0	1	0	0	0	7684	796	28	5	543	5	IL28RA	1	24484160	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10		24484160	224766461	1	68											
TMEM61	199964	hgsc.bcm.edu;mdanderson.org	37	chr1	55457726	55457726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggagacgacaccgagtGccacacgctcctgctcaggc	8	5	12	16	4	1	1	1	0	0	1	2	4	2	1	3	2	3	2	3	2	0	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:55457726G>T	ENST00000371268.3	+	3	857	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	195						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GACACCGAGTGCCACACGCTC	0.602																																						.											0													109	110	109					1																	55457726		2203	4300	6503	SO:0001583	missense	199964			BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.583G>T	1.37:g.55457726G>T	ENSP00000360315:p.Ala195Ser			Missense_Mutation	SNP	ENST00000371268.3	37	CCDS601.1	.	.	.	.	.	.	.	.	.	.	G	5.273	0.235726	0.10023	.	.	ENSG00000143001	ENST00000371268	T	0.46819	0.86	3.57	-0.174	0.13319	.	1.587460	0.04001	N	0.296491	T	0.29061	0.0722	N	0.14661	0.345	0.09310	N	1	B	0.25904	0.137	B	0.28709	0.093	T	0.14699	-1.0463	10	0.13108	T	0.6	0.0513	5.9693	0.19342	0.195:0.245:0.56:0.0	.	195	Q8N0U2	TMM61_HUMAN	S	195	ENSP00000360315:A195S	ENSP00000360315:A195S	A	+	1	0	TMEM61	55230314	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.158000	0.16422	-0.268000	0.09312	-1.598000	0.00824	GCC		0.602	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		T	55457726	G	T	55457726	3	4	2	1	0	0	0	0	1	0	0	0	16185	1319	46	5	593	5	TMEM61	1	55457726	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	30973566	55457726	193792895	2	69											
AGL	178	broad.mit.edu	37	chr1	100353594	100353594	+	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	ctttaccgatgtgaatcagaAgaaaaggaagatggtggagg	15	8	14	4	1	1	4	1	1	0	3	1	7	1	6	1	4	1	0	1	4	6	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:100353594A>G	ENST00000294724.4	+	21	3220	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E	AGL_ENST00000361915.3_Silent_p.E914E|AGL_ENST00000361302.3_Silent_p.E898E|AGL_ENST00000370161.2_Silent_p.E898E|AGL_ENST00000370163.3_Silent_p.E914E|AGL_ENST00000361522.4_Silent_p.E897E|AGL_ENST00000370165.3_Silent_p.E914E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	914					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTGAATCAGAAGAAAAGGAAG	0.393																																						.											0													118	112	114					1																	100353594		2203	4300	6503	SO:0001819	synonymous_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2742A>G	1.37:g.100353594A>G			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	CCDS759.1																																																																																				0.393	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		G	100353594	A	G	100353594	2	3	2	1	0	0	0	0	0	0	0	1	384	69	3	2		2	AGL	1	100353594	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	44895868	100353594	148897027	3	70											
KIAA1324	57535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	109731772	109731772	+	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	gctgcccacaaacatggaaaCgaccgttctcagtgggatca	12	7	10	12	2	2	0	2	0	1	0	3	3	2	2	2	2	3	2	2	2	2	1	rs143784237		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:109731772C>T	ENST00000369939.3	+	10	1487	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.T348M	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	435					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AACATGGAAACGACCGTTCTC	0.537																																						.											0								C	MET/THR	0,4406		0,0,2203	108	88	95		1304	5.1	0.9	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1324	NM_020775.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	435/1014	109731772	1,13005	2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1304C>T	1.37:g.109731772C>T	ENSP00000358955:p.Thr435Met		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761923	0.69763	0.0	1.16E-4	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.43294	0.95;0.95;0.95	5.12	5.12	0.69794	Growth factor, receptor (1);	0.044050	0.85682	D	0.000000	T	0.47600	0.1454	L	0.46157	1.445	0.47374	D	0.999404	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.70716	0.97;0.969;0.959;0.959	T	0.46176	-0.9210	10	0.62326	D	0.03	-14.8291	13.2299	0.59936	0.0:0.8399:0.1601:0.0	.	435;348;435;435	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	M	435;385;348	ENSP00000358955:T435M;ENSP00000393964:T385M;ENSP00000434595:T348M	ENSP00000358955:T435M	T	+	2	0	KIAA1324	109533295	1.000000	0.71417	0.927000	0.36925	0.929000	0.56500	4.981000	0.63819	2.669000	0.90835	0.561000	0.74099	ACG		0.537	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		T	109731772	C	T	109731772	3	4	2	1	0	0	0	0	1	0	0	0	8223	536	19	1	1342	1	KIAA1324	1	109731772	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	9378178	109731772	139518849	4	71											
MOV10	4343	ucsc.edu	37	chr1	113241049	113241049	+	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	ccctcctccaagaagggcaaAgctcgcctgagccctcgaag	10	5	10	16	2	0	2	0	1	0	1	4	3	2	2	5	1	2	2	5	1	4	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:113241049A>G	ENST00000413052.2	+	16	2847	c.2457A>G	c.(2455-2457)aaA>aaG	p.K819K	MOV10_ENST00000369644.1_Silent_p.K763K|MOV10_ENST00000369645.1_Silent_p.K819K|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Silent_p.K819K	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	819					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGAAGGGCAAAGCTCGCCTGA	0.607																																						.											0													60	48	52					1																	113241049		2203	4300	6503	SO:0001819	synonymous_variant	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2457A>G	1.37:g.113241049A>G			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	CCDS853.1																																																																																				0.607	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		G	113241049	A	G	113241049	2	3	2	1	0	0	0	0	0	0	0	1	9718	69	3	2		2	MOV10	1	113241049	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	3509277	113241049	136009572	5	72											
SPAG17	200162	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	118535252	118535252	+	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	tccaaatctgagtaccaaacGgaggtcctggagtttttttc	10	13	9	9	1	1	1	0	1	1	0	4	3	3	3	3	3	2	2	3	3	3	4	rs147490539		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:118535252G>A	ENST00000336338.5	-	36	5263	c.5198C>T	c.(5197-5199)cCg>cTg	p.P1733L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1733						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGTACCAAACGGAGGTCCTGG	0.413													G|||	1	0.000199681	0	0	5008	,	,		16444	0		0	False		,,,				2504	0.001					.											0								G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	59	60	60		5198	4.7	0.9	1	dbSNP_134	60	0,8600		0,0,4300	no	missense	SPAG17	NM_206996.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1733/2224	118535252	1,13005	2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5198C>T	1.37:g.118535252G>A	ENSP00000337804:p.Pro1733Leu		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749133	0.69533	2.27E-4	0.0	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19532	2.14	5.6	4.69	0.59074	.	0.298320	0.36778	N	0.002404	T	0.25195	0.0612	M	0.61703	1.905	0.45342	D	0.998335	D	0.65815	0.995	P	0.53809	0.735	T	0.04454	-1.0950	10	0.66056	D	0.02	.	15.5732	0.76356	0.0:0.1386:0.8614:0.0	.	1733	Q6Q759	SPG17_HUMAN	L	1733;213	ENSP00000337804:P1733L	ENSP00000337804:P1733L	P	-	2	0	SPAG17	118336775	0.999000	0.42202	0.911000	0.35937	0.892000	0.51952	3.391000	0.52530	1.362000	0.46000	-0.150000	0.13652	CCG		0.413	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118535252	G	A	118535252	3	1	2	1	0	0	0	0	1	0	0	0	14979	1116	39	1	1525	1	SPAG17	1	118535252	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	5294203	118535252	130715369	6	73											
SLC9A11	284525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	173506159	173506159	+	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	tttcaagaattccattgttaCgctgtttttcaaagctactc	10	17	5	9	1	2	1	2	0	0	1	4	1	3	1	1	0	3	4	1	0	5	7			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:173506159C>T	ENST00000367714.3	-	14	1999	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R424H	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	526					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCCATTGTTACGCTGTTTTTC	0.333																																						.											0													122	125	124					1																	173506159		2203	4300	6503	SO:0001583	missense	284525			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.1577G>A	1.37:g.173506159C>T	ENSP00000356687:p.Arg526His		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694967	0.30052	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.09350	3.68;2.99	5.52	2.16	0.27623	.	0.287004	0.30584	N	0.009306	T	0.01189	0.0039	N	0.08118	0	0.23882	N	0.996578	P	0.44986	0.847	B	0.28991	0.097	T	0.48917	-0.8992	10	0.42905	T	0.14	-10.8475	8.0928	0.30811	0.0:0.7038:0.0:0.2962	.	526	Q5TAH2	S9A11_HUMAN	H	526;424	ENSP00000356687:R526H;ENSP00000445437:R424H	ENSP00000356687:R526H	R	-	2	0	SLC9A11	171772782	0.794000	0.28838	0.774000	0.31636	0.801000	0.45260	0.297000	0.19101	0.691000	0.31592	0.508000	0.49915	CGT		0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		T	173506159	C	T	173506159	3	4	2	1	0	0	0	0	1	0	0	0	14711	536	19	1	1857	1	SLC9A11	1	173506159	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	54970907	173506159	75744462	7	74											
CR2	1380	bcgsc.ca	37	chr1	207644142	207644142	+	Missense_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	ggaagatagacacatggtccGctttgaccctggaacatcta	12	9	10	10	1	1	3	0	1	1	2	2	5	2	5	2	3	1	1	2	3	4	3	rs183067414	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:207644142G>A	ENST00000367058.3	+	7	1472	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	CR2_ENST00000367057.3_Missense_Mutation_p.R428H|CR2_ENST00000458541.2_Missense_Mutation_p.R428H|CR2_ENST00000367059.3_Missense_Mutation_p.R428H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	428	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACATGGTCCGCTTTGACCCT	0.453													G|||	4	0.000798722	0.0015	0.0029	5008	,	,		19590	0		0	False		,,,				2504	0					.											0													85	84	85					1																	207644142		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1283G>A	1.37:g.207644142G>A	ENSP00000356025:p.Arg428His		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	9.287	1.049735	0.19827	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.57	-0.802	0.10889	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.66307	0.2776	L	0.46741	1.465	0.09310	N	0.999996	P;D;D	0.69078	0.589;0.997;0.996	B;D;D	0.63877	0.141;0.919;0.912	T	0.56860	-0.7909	9	0.45353	T	0.12	.	8.0768	0.30720	0.48:0.0:0.52:0.0	.	428;428;428	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	428	ENSP00000356025:R428H;ENSP00000356024:R428H;ENSP00000356026:R428H;ENSP00000404222:R428H	ENSP00000356024:R428H	R	+	2	0	CR2	205710765	0.001000	0.12720	0.124000	0.21820	0.035000	0.12851	-0.548000	0.06048	-0.243000	0.09653	-0.793000	0.03317	CGC		0.453	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		A	207644142	G	A	207644142	3	1	2	1	0	0	0	0	1	0	0	0	3842	1087	38	1	1309	1	CR2	1	207644142	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	34137983	207644142	41606479	8	75											
OR2T3	343173	broad.mit.edu	37	chr1	248637594	248637594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatgcagtcaagaatgAaccaagaaaagtagtaaagg	19	6	11	5	0	1	4	1	2	0	2	1	4	1	4	1	1	2	4	1	1	9	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:248637594A>G	ENST00000359594.2	+	1	968	c.943A>G	c.(943-945)Aac>Gac	p.N315D		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	315						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)			GTCAAGAATGAACCAAGAAAA	0.488																																						.											0													208	227	220					1																	248637594		2201	4298	6499	SO:0001583	missense	343173				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.943A>G	1.37:g.248637594A>G	ENSP00000352604:p.Asn315Asp		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	3.158	-0.172775	0.06421	.	.	ENSG00000196539	ENST00000359594	T	0.09911	2.93	1.24	-0.0673	0.13761	.	.	.	.	.	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.38373	-0.9664	9	0.44086	T	0.13	.	3.1863	0.06602	0.6196:0.0:0.0:0.3804	.	315	Q8NH03	OR2T3_HUMAN	D	315	ENSP00000352604:N315D	ENSP00000352604:N315D	N	+	1	0	OR2T3	246704217	0.007000	0.16637	0.005000	0.12908	0.163000	0.22366	1.757000	0.38400	-0.035000	0.13691	0.156000	0.16432	AAC		0.488	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		G	248637594	A	G	248637594	3	3	2	1	0	0	0	0	1	0	0	0	11023	246	9	4	945	4	OR2T3	1	248637594	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	40993452	248637594	613027	9	76											
LPIN1	23175	broad.mit.edu	37	chr2	11922578	11922578	+	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	atcgaggagctcaaacccccCtctgccagtgtagtccagac	10	7	9	15	1	2	1	1	0	1	1	4	3	3	2	5	1	3	2	5	1	2	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:11922578C>T	ENST00000256720.2	+	7	1194	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	LPIN1_ENST00000396098.1_Silent_p.P409P|LPIN1_ENST00000425416.2_Silent_p.P373P|LPIN1_ENST00000396097.1_Silent_p.P97P|LPIN1_ENST00000396099.1_Silent_p.P409P|LPIN1_ENST00000449576.2_Silent_p.P452P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	367					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)		TCAAACCCCCCTCTGCCAGTG	0.517																																						.											0													76	78	77					2																	11922578		2203	4300	6503	SO:0001819	synonymous_variant	23175			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.1101C>T	2.37:g.11922578C>T			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																				0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		T	11922578	C	T	11922578	2	4	2	1	0	0	0	0	0	0	0	1	8918	668	24	4		4	LPIN1	2	11922578	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10		11922578	231276795	10	77											
CCDC88A	55704	broad.mit.edu	37	chr2	55544911	55544911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttctaaggaagactgctGgattaggagttgggcattct	10	14	12	5	0	2	1	0	0	2	1	2	4	2	4	0	4	1	3	0	4	3	6			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:55544911G>T	ENST00000436346.1	-	20	4232	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1131K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1130K|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1130K|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1131					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAAGACTGCTGGATTAGGAGT	0.353																																						.											0													134	137	136					2																	55544911		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3391C>A	2.37:g.55544911G>T	ENSP00000410608:p.Gln1131Lys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.21|17.21	3.330910|3.330910	0.60853|0.60853	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;D;T;T	.|0.84873	.|2.35;2.59;2.58;-1.91;2.37;1.33	6.02|6.02	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.45606	.|U	.|0.000351	D|D	0.91656|0.91656	0.7363|0.7363	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|B;D;B;P;P;B	.|0.59767	.|0.402;0.986;0.33;0.589;0.532;0.28	.|B;D;B;B;B;B	.|0.72338	.|0.258;0.977;0.132;0.325;0.259;0.323	D|D	0.91073|0.91073	0.4894|0.4894	5|10	.|0.37606	.|T	.|0.19	-11.3295|-11.3295	16.6928|16.6928	0.85326|0.85326	0.0:0.0:0.8693:0.1306|0.0:0.0:0.8693:0.1306	.|.	.|1130;1131;1076;1131;1130;1130	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	Q|K	111|1130;1131;1131;176;1130;306	.|ENSP00000338728:Q1130K;ENSP00000263630:Q1131K;ENSP00000410608:Q1131K;ENSP00000390012:Q176K;ENSP00000404431:Q1130K;ENSP00000405080:Q306K	.|ENSP00000263630:Q1131K	P|Q	-|-	2|1	0|0	CCDC88A|CCDC88A	55398415|55398415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.673000|0.673000	0.39480|0.39480	9.623000|9.623000	0.98386|0.98386	1.533000|1.533000	0.49186|0.49186	-0.188000|-0.188000	0.12872|0.12872	CCA|CAG		0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		T	55544911	G	T	55544911	3	4	2	1	0	0	0	0	1	0	0	0	2863	1357	47	5	2276	5	CCDC88A	2	55544911	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	43622333	55544911	187654462	11	78											
FSIP2	401024	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	186689203	186689203	+	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	gacccaagtgctaaaatattAgaaggttggactcctttttc	12	13	8	8	0	0	1	0	0	0	1	2	3	1	2	2	2	1	2	2	2	6	6			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:186689203A>G	ENST00000424728.1	+	20	20469	c.20469A>G	c.(20467-20469)ttA>ttG	p.L6823L	FSIP2_ENST00000343098.5_Silent_p.L6912L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6823										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTAAAATATTAGAAGGTTGGA	0.289																																						.											0													114	102	105					2																	186689203		1796	4067	5863	SO:0001819	synonymous_variant	401024			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.20469A>G	2.37:g.186689203A>G			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																					0.289	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		G	186689203	A	G	186689203	2	3	2	1	0	0	0	0	0	0	0	1	6075	417	15	2		2	FSIP2	2	186689203	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	131144292	186689203	56510170	12	79											
HECW2	57520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	197106878	197106878	+	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	aaagttcctcagtttggcttCgaaatcccgcttgtaagggg	9	12	11	9	2	1	0	1	0	0	0	4	1	3	0	2	3	0	5	2	3	3	5			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:197106878C>T	ENST00000260983.3	-	20	3762	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K	HECW2_ENST00000409111.1_Missense_Mutation_p.E838K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1194					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						AGTTTGGCTTCGAAATCCCGC	0.483																																						.											0													167	167	167					2																	197106878		2203	4300	6503	SO:0001583	missense	57520			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.3580G>A	2.37:g.197106878C>T	ENSP00000260983:p.Glu1194Lys		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713155	0.89112	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.87412	-2.25;-2.25	4.75	4.75	0.60458	HECT (1);	0.059233	0.64402	D	0.000002	D	0.92437	0.7599	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.90986	0.4831	10	0.30854	T	0.27	.	17.9302	0.88994	0.0:1.0:0.0:0.0	.	1194	Q9P2P5	HECW2_HUMAN	K	838;1194	ENSP00000386775:E838K;ENSP00000260983:E1194K	ENSP00000260983:E1194K	E	-	1	0	HECW2	196815123	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.651000	0.83577	2.466000	0.83321	0.563000	0.77884	GAA		0.483	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197106878	C	T	197106878	3	4	2	1	0	0	0	0	1	0	0	0	7043	893	31	1	1178	1	HECW2	2	197106878	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	10417675	197106878	46092495	13	80											
SLC6A6	6533	broad.mit.edu;bcgsc.ca	37	chr3	14513818	14513818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcttgcttggactggAtagccaggtgcgtataaggg	7	12	14	8	1	1	0	0	0	1	0	2	2	1	2	1	4	3	3	1	4	3	6			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:14513818A>G	ENST00000454876.2	+	10	1531	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	SLC6A6_ENST00000360861.3_Missense_Mutation_p.D401G			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	401					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						CTTGGACTGGATAGCCAGGTG	0.537																																						.											0													101	93	96					3																	14513818		2203	4300	6503	SO:0001583	missense	6533				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.1202A>G	3.37:g.14513818A>G	ENSP00000398063:p.Asp401Gly		B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790541	0.90367	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74737	-0.87;-0.87	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85190	0.1009	10	0.54805	T	0.06	.	15.3455	0.74334	1.0:0.0:0.0:0.0	.	401	P31641	SC6A6_HUMAN	G	401	ENSP00000398063:D401G;ENSP00000354107:D401G	ENSP00000354107:D401G	D	+	2	0	SLC6A6	14488822	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.021000	0.59480	0.482000	0.46254	GAT		0.537	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		G	14513818	A	G	14513818	3	3	2	1	0	0	0	0	1	0	0	0	14688	333	12	4	1236	4	SLC6A6	3	14513818	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10		14513818	183508612	14	81											
SCN10A	6336	broad.mit.edu;mdanderson.org	37	chr3	38739266	38739266	+	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	ttcagagaatccaactccccGgattctcctaggacattctt	10	12	6	13	1	3	1	1	0	2	1	6	4	5	3	4	2	1	0	4	2	3	5	rs111535651	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:38739266G>A	ENST00000449082.2	-	27	5444	c.5445C>T	c.(5443-5445)tcC>tcT	p.S1815S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1815					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)	CCAACTCCCCGGATTCTCCTA	0.438																																						.											0													66	66	66					3																	38739266		2203	4300	6503	SO:0001819	synonymous_variant	6336			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.5445C>T	3.37:g.38739266G>A			A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.438	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38739266	G	A	38739266	2	1	2	1	0	0	0	0	0	0	0	1	13912	1103	39	1		1	SCN10A	3	38739266	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	24225448	38739266	159283164	15	82											
LYZL4	131375	broad.mit.edu	37	chr3	42438812	42438812	+	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	tatcggagtactggcagtacCgggaccaggtgggcctgtgg	7	8	17	9	2	0	0	0	0	0	0	1	2	0	2	3	6	2	3	3	6	3	3			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:42438812C>T	ENST00000287748.3	-	5	661	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.R129Q	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	129					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CTGGCAGTACCGGGACCAGGT	0.577																																						.											0													36	33	34					3																	42438812		2199	4294	6493	SO:0001583	missense	131375			BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.386G>A	3.37:g.42438812C>T	ENSP00000287748:p.Arg129Gln			Missense_Mutation	SNP	ENST00000287748.3	37	CCDS2697.1	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013375	0.19277	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.44482	0.92;0.92	4.69	-4.11	0.03928	Lysozyme-like domain (1);	1.384820	0.05121	N	0.490651	T	0.24470	0.0593	N	0.25144	0.715	0.20196	N	0.999924	B	0.13594	0.008	B	0.06405	0.002	T	0.18555	-1.0333	10	0.32370	T	0.25	-0.0566	4.8737	0.13646	0.3737:0.1913:0.0:0.4351	.	129	Q96KX0	LYZL4_HUMAN	Q	129	ENSP00000287748:R129Q;ENSP00000387897:R129Q	ENSP00000287748:R129Q	R	-	2	0	LYZL4	42413816	0.311000	0.24536	0.886000	0.34754	0.458000	0.32498	-0.153000	0.10144	-0.456000	0.07043	-0.269000	0.10298	CGG		0.577	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	NM_144634		T	42438812	C	T	42438812	3	4	2	1	0	0	0	0	1	0	0	0	9133	652	23	1	58	1	LYZL4	3	42438812	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	3699546	42438812	155583618	16	83											
CELSR3	1951	hgsc.bcm.edu;mdanderson.org	37	chr3	48682486	48682486	+	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	acccagcagcacagcagggaCgccccagcccagggcatggt	10	2	13	16	1	0	0	0	0	0	0	0	1	0	1	4	3	4	4	4	3	0	0	rs147124288	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:48682486C>A	ENST00000164024.4	-	25	8234	c.7954G>T	c.(7954-7956)Gtc>Ttc	p.V2652F	CELSR3_ENST00000544264.1_Missense_Mutation_p.V2657F|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2652					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCAGGGACGCCCCAGCCC	0.662																																						.											0													34	37	36					3																	48682486		2200	4297	6497	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7954G>T	3.37:g.48682486C>A	ENSP00000164024:p.Val2652Phe		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001497	0.74818	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.38722	1.12;1.12	5.15	3.36	0.38483	GPCR, family 2-like (1);	.	.	.	.	T	0.54663	0.1872	L	0.48986	1.54	0.58432	D	0.999996	D;D	0.65815	0.977;0.995	P;D	0.67382	0.896;0.951	T	0.54510	-0.8283	9	0.72032	D	0.01	.	11.4727	0.50280	0.0:0.8528:0.0:0.1472	.	2652;2749	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	F	2652;2657	ENSP00000164024:V2652F;ENSP00000445694:V2657F	ENSP00000164024:V2652F	V	-	1	0	CELSR3	48657490	0.998000	0.40836	0.695000	0.30226	0.936000	0.57629	3.769000	0.55303	0.574000	0.29417	-0.339000	0.08088	GTC		0.662	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48682486	C	A	48682486	3	1	2	1	0	0	0	0	1	0	0	0	3223	536	19	5	2028	5	CELSR3	3	48682486	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	6243674	48682486	149339944	17	84											
CCDC80	151887	broad.mit.edu	37	chr3	112357042	112357042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctctttttctcagactTcttcatttgcttttcactct	4	22	3	12	0	6	1	3	0	4	1	7	1	6	1	0	0	2	2	0	0	0	8			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:112357042T>C	ENST00000206423.3	-	2	2664	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.K571E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	571	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ttctcagacttcttcatttgc	0.368																																						.											0													166	143	151					3																	112357042		2203	4300	6503	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1711A>G	3.37:g.112357042T>C	ENSP00000206423:p.Lys571Glu		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489827	0.64074	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.51325	0.71;0.71	5.52	5.52	0.82312	.	0.201324	0.50627	D	0.000101	T	0.37598	0.1009	L	0.27053	0.805	0.36946	D	0.89262	P;P;B	0.42692	0.687;0.787;0.355	B;B;B	0.39503	0.301;0.158;0.1	T	0.46359	-0.9197	10	0.42905	T	0.14	-27.697	15.6438	0.77033	0.0:0.0:0.0:1.0	.	582;571;571	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	E	571;571;199	ENSP00000206423:K571E;ENSP00000411814:K571E	ENSP00000206423:K571E	K	-	1	0	CCDC80	113839732	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.304000	0.51866	2.096000	0.63516	0.454000	0.30748	AAG		0.368	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		C	112357042	T	C	112357042	3	2	2	1	0	0	0	0	1	0	0	0	2854	1792	62	4	1169	4	CCDC80	3	112357042	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	63674556	112357042	85665388	18	85											
GRAMD1C	54762	ucsc.edu	37	chr3	113594422	113594422	+	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	ttctatagcaacatcttcagAtgggaaactacagtaagaca	16	10	7	8	0	3	2	1	0	2	2	3	3	3	3	0	1	4	2	0	1	6	6			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:113594422A>G	ENST00000358160.4	+	4	843	c.351A>G	c.(349-351)agA>agG	p.R117R	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	117	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACATCTTCAGATGGGAAACTA	0.343																																						.											0													111	109	110					3																	113594422		2203	4300	6503	SO:0001819	synonymous_variant	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.351A>G	3.37:g.113594422A>G			A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.343	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		G	113594422	A	G	113594422	2	3	2	1	0	0	0	0	0	0	0	1	6749	330	12	4		4	GRAMD1C	3	113594422	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	1237380	113594422	84428008	19	86											
ATR	545	bcgsc.ca	37	chr3	142180902	142180902	+	Missense_Mutation	SNP	T	T	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	tgttcgaatatgaagttctcTtctacgagactctgcatctt	9	16	7	9	2	4	2	0	1	4	1	6	4	4	2	0	0	2	3	0	0	4	6			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:142180902T>C	ENST00000350721.4	-	42	7193	c.7072A>G	c.(7072-7074)Aga>Gga	p.R2358G	ATR_ENST00000383101.3_Missense_Mutation_p.R2294G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2358	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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						TGAAGTTCTCTTCTACGAGAC	0.308								Other conserved DNA damage response genes																														.											0													106	107	107					3																	142180902		2203	4298	6501	SO:0001583	missense	545			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.7072A>G	3.37:g.142180902T>C	ENSP00000343741:p.Arg2358Gly		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.51|18.51	3.640205|3.640205	0.67244|0.67244	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|D;D	.|0.90788	.|-2.73;-2.73	5.34|5.34	2.85|2.85	0.33270|0.33270	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95686|0.95686	0.8597|0.8597	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95467|0.95467	0.8548|0.8548	5|10	.|0.87932	.|D	.|0	-19.2197|-19.2197	13.3797|13.3797	0.60761|0.60761	0.0:0.0:0.4616:0.5384|0.0:0.0:0.4616:0.5384	.|.	.|2358	.|Q13535	.|ATR_HUMAN	R|G	204|2358;2294	.|ENSP00000343741:R2358G;ENSP00000372581:R2294G	.|ENSP00000343741:R2358G	K|R	-|-	2|1	0|2	ATR|ATR	143663592|143663592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.769000|1.769000	0.38522|0.38522	0.380000|0.380000	0.24823|0.24823	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.308	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		C	142180902	T	C	142180902	3	2	2	1	0	0	0	0	1	0	0	0	1204	1617	56	2	886	2	ATR	3	142180902	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	28586480	142180902	55841528	20	87											
B3GALNT1	8706	broad.mit.edu	37	chr3	160804293	160804293	+	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	atctgaagggtgggaggtcaCcagaatgaccagaaatggat	14	7	14	6	0	2	4	1	2	1	2	2	6	2	6	2	4	0	0	2	4	3	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:160804293C>T	ENST00000392781.2	-	8	997	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	B3GALNT1_ENST00000392780.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.V84M|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.V84M|B3GALNT1_ENST00000417187.1_Intron	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	84					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TGGGAGGTCACCAGAATGACC	0.428																																						.											0													89	91	90					3																	160804293		2203	4300	6503	SO:0001583	missense	8706			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.250G>A	3.37:g.160804293C>T	ENSP00000376532:p.Val84Met		D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755841	0.69648	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170;ENST00000468268	T;T;T;T;T;T;T	0.62498	0.41;0.41;0.41;0.41;0.41;0.41;0.02	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000012	T	0.68742	0.3034	N	0.24115	0.695	0.41161	D	0.986093	D	0.76494	0.999	D	0.65987	0.94	T	0.72776	-0.4191	10	0.87932	D	0	.	18.8796	0.92351	0.0:1.0:0.0:0.0	.	84	O75752	B3GL1_HUMAN	M	84	ENSP00000323479:V84M;ENSP00000376530:V84M;ENSP00000376531:V84M;ENSP00000376532:V84M;ENSP00000418226:V84M;ENSP00000420163:V84M;ENSP00000419476:V84M	ENSP00000323479:V84M	V	-	1	0	B3GALNT1	162286987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.252000	0.51461	2.701000	0.92244	0.561000	0.74099	GTG		0.428	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		T	160804293	C	T	160804293	3	4	2	1	0	0	0	0	1	0	0	0	1245	507	18	3	749	3	B3GALNT1	3	160804293	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	18623391	160804293	37218137	21	88											
MUC20	200958	mdanderson.org	37	chr3	195453332	195453332	+	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	ctacaaccaacagcagccgaGggacgaacagcaccttagcc	14	3	9	15	2	0	0	0	0	0	0	0	3	0	1	4	1	8	2	4	1	5	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:195453332G>A	ENST00000447234.2	+	2	1984	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	MUC20_ENST00000320736.6_Missense_Mutation_p.G449R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCAGCCGAGGGACGAACAG	0.612																																						.											0																																										SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1858G>A	3.37:g.195453332G>A	ENSP00000414350:p.Gly620Arg		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.553505|1.553505	0.27739|0.27739	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522|ENST00000423938	T;T;T;T|T	0.13901|0.21932	2.97;2.98;3.15;2.55|1.98	4.83|4.83	2.02|2.02	0.26589|0.26589	.|.	1.113110|.	0.06939|.	N|.	0.812407|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P|.	0.35844|.	0.524|.	B|.	0.38500|.	0.275|.	T|T	0.37407|0.37407	-0.9707|-0.9707	10|7	0.17369|0.19147	T|T	0.5|0.46	1.6052|1.6052	6.2028|6.2028	0.20585|0.20585	0.3217:0.0:0.6783:0.0|0.3217:0.0:0.6783:0.0	.|.	449|.	E9PH32|.	.|.	R|K	431;620;449;620;585|31	ENSP00000414350:G620R;ENSP00000325431:G449R;ENSP00000396774:G620R;ENSP00000405629:G585R|ENSP00000397774:R31K	ENSP00000325431:G449R|ENSP00000397774:R31K	G|R	+|+	1|2	0|0	MUC20|MUC20	196939003|196939003	0.024000|0.024000	0.19004|0.19004	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	1.013000|1.013000	0.29937|0.29937	0.320000|0.320000	0.23234|0.23234	-0.140000|-0.140000	0.14226|0.14226	GGG|AGG		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		A	195453332	G	A	195453332	3	1	2	1	0	0	0	0	1	0	0	0	9976	1000	35	4	1355	4	MUC20	3	195453332	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	34649039	195453332	2569098	22	89											
GABRA4	2557	broad.mit.edu;mdanderson.org	37	chr4	46976325	46976325	+	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	actaagctggaagactccttCggaacttcaactgatttctc	11	12	7	11	1	2	2	1	1	1	1	5	4	3	4	1	2	3	1	1	2	4	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:46976325C>T	ENST00000264318.3	-	6	1627	c.645G>A	c.(643-645)ccG>ccA	p.P215P		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	215					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)	AAGACTCCTTCGGAACTTCAA	0.398																																					Ovarian(6;283 369 8234 12290 33402)	.											0													118	109	112					4																	46976325		2203	4300	6503	SO:0001819	synonymous_variant	2557				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.645G>A	4.37:g.46976325C>T			Q8IYR7	Silent	SNP	ENST00000264318.3	37	CCDS3473.1																																																																																				0.398	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			T	46976325	C	T	46976325	2	4	2	1	0	0	0	0	0	0	0	1	6163	871	31	1		1	GABRA4	4	46976325	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10		46976325	144177951	23	90											
PPAT	5471	broad.mit.edu;mdanderson.org	37	chr4	57265347	57265347	+	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	tgttttaatattacttacctCttttgcaccagattctttga	9	20	4	8	0	2	2	0	1	2	1	2	2	2	2	2	0	3	2	2	0	4	9			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:57265347C>G	ENST00000264220.2	-	9	1371	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	RP11-646I6.6_ENST00000602749.1_lincRNA|PPAT_ENST00000507648.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	412					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TTACTTACCTCTTTTGCACCA	0.313																																						.											0													81	85	84					4																	57265347		2202	4300	6502	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1234G>C	4.37:g.57265347C>G	ENSP00000264220:p.Glu412Gln			Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740737	0.89573	.	.	ENSG00000128059	ENST00000264220	D	0.99462	-5.94	5.24	5.24	0.73138	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98200	1.0467	10	0.72032	D	0.01	-9.1068	19.1864	0.93645	0.0:1.0:0.0:0.0	.	412	Q06203	PUR1_HUMAN	Q	412	ENSP00000264220:E412Q	ENSP00000264220:E412Q	E	-	1	0	PPAT	56960104	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.776000	0.85560	2.606000	0.88127	0.650000	0.86243	GAG		0.313	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		G	57265347	C	G	57265347	3	3	2	1	0	0	0	0	1	0	0	0	12302	922	32	5	331	5	PPAT	4	57265347	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	10289022	57265347	133888929	24	91											
PRDM8	56978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	81124587	81124587	+	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	gagtatgcgatggagcccttGgtgaagcggcggcgagagga	9	6	19	7	4	0	2	0	1	0	1	0	7	0	4	1	5	3	1	1	5	2	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:81124587G>C	ENST00000504452.1	+	8	2810	c.1971G>C	c.(1969-1971)ttG>ttC	p.L657F	PRDM8_ENST00000339711.4_Missense_Mutation_p.L657F|PRDM8_ENST00000415738.2_Missense_Mutation_p.L657F			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	657					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						TGGAGCCCTTGGTGAAGCGGC	0.567																																						.											0													33	38	36					4																	81124587		2146	4274	6420	SO:0001583	missense	56978			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.1971G>C	4.37:g.81124587G>C	ENSP00000423985:p.Leu657Phe		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630137	0.46944	.	.	ENSG00000152784	ENST00000504452;ENST00000339711;ENST00000415738	T;T;T	0.68181	-0.31;-0.31;-0.31	4.63	3.79	0.43588	.	0.230621	0.29987	N	0.010690	T	0.69242	0.3089	L	0.40543	1.245	0.47949	D	0.999553	D	0.76494	0.999	D	0.68765	0.96	T	0.66893	-0.5808	10	0.40728	T	0.16	.	6.5614	0.22489	0.1613:0.1487:0.69:0.0	.	657	Q9NQV8	PRDM8_HUMAN	F	657	ENSP00000423985:L657F;ENSP00000339764:L657F;ENSP00000406998:L657F	ENSP00000339764:L657F	L	+	3	2	PRDM8	81343611	0.289000	0.24334	0.991000	0.47740	0.990000	0.78478	0.282000	0.18829	1.157000	0.42530	0.591000	0.81541	TTG		0.567	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			C	81124587	G	C	81124587	3	2	2	1	0	0	0	0	1	0	0	0	12462	1339	47	5	1981	5	PRDM8	4	81124587	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	23859240	81124587	110029689	25	92											
BBS12	166379	broad.mit.edu	37	chr4	123663959	123663959	+	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	tgtgtgcaacaaggcaactgTacaaaaccatttatgtttga	14	12	8	7	0	0	1	0	1	0	0	0	1	0	1	1	1	5	4	1	1	7	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:123663959T>C	ENST00000314218.3	+	2	1105	c.912T>C	c.(910-912)tgT>tgC	p.C304C	BBS12_ENST00000542236.1_Silent_p.C304C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	304					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGGCAACTGTACAAAACCAT	0.408									Bardet-Biedl syndrome																													.											0													79	69	72					4																	123663959		2203	4300	6503	SO:0001819	synonymous_variant	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.912T>C	4.37:g.123663959T>C			D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	CCDS3728.1																																																																																				0.408	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		C	123663959	T	C	123663959	2	2	2	1	0	0	0	0	0	0	0	1	1337	1644	57	2		2	BBS12	4	123663959	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	42539372	123663959	67490317	26	93											
SORBS2	8470	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	186560084	186560084	+	Intron	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	tggtgtgggggcgccactccGgggcggaggggaggggctac	4	5	23	9	3	0	0	0	0	0	0	1	2	1	2	2	10	1	1	2	10	1	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:186560084G>A	ENST00000284776.7	-	10	1194				SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Missense_Mutation_p.R350W|SORBS2_ENST00000437304.2_Missense_Mutation_p.R443W|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCGCCACTCCGGGGCGGAGGG	0.647																																					Esophageal Squamous(153;41 2433 9491 36028)	.											0													18	25	23					4																	186560084		692	1591	2283	SO:0001627	intron_variant	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.684+7737C>T	4.37:g.186560084G>A			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858296	0.71834	.	.	ENSG00000154556	ENST00000437304;ENST00000319471;ENST00000319454	T;T;T	0.37411	1.2;1.22;1.39	4.05	-3.11	0.05299	.	.	.	.	.	T	0.34658	0.0905	L	0.36672	1.1	0.80722	D	1	D;P;D;P	0.63880	0.993;0.894;0.99;0.894	P;B;B;B	0.53490	0.727;0.312;0.336;0.312	T	0.37407	-0.9707	9	0.66056	D	0.02	.	9.0398	0.36311	0.0:0.0982:0.6601:0.2417	.	168;310;443;310	B3KPU4;O94875-4;E9PAW4;O94875-5	.;.;.;.	W	443;350;310	ENSP00000396008:R443W;ENSP00000322182:R350W;ENSP00000321983:R310W	ENSP00000321983:R310W	R	-	1	2	SORBS2	186797078	0.987000	0.35691	0.915000	0.36163	0.979000	0.70002	-0.133000	0.10451	-0.532000	0.06332	0.561000	0.74099	CGG		0.647	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		A	186560084	G	A	186560084	1	1	2	0	1	0	0	0	0	0	0	0	14928	1115	39	1		1	SORBS2	4	186560084	Intron	SNP	G	TCGA-KL-8324-01A-11D-2310-10	62896125	186560084	4594192	27	94											
FAT1	2195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	187527260	187527260	+	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	tagtttcccctggagaagacGggcgcgttgtcattgacatc	8	11	12	10	3	1	3	1	1	0	2	3	4	2	3	2	2	0	2	2	2	2	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:187527260G>T	ENST00000441802.2	-	17	10523	c.10314C>A	c.(10312-10314)ccC>ccA	p.P3438P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3438	Cadherin 31. {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)	p.P3441P(1)|p.P3438P(1)		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						TGGAGAAGACGGGCGCGTTGT	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	.											2	Substitution - coding silent(2)	endometrium(2)											141	138	139					4																	187527260		1990	4174	6164	SO:0001819	synonymous_variant	2195			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.10314C>A	4.37:g.187527260G>T				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187527260	G	T	187527260	2	4	2	1	0	0	0	0	0	0	0	1	5689	1103	39	5		5	FAT1	4	187527260	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	967176	187527260	3627016	28	95											
PCSK1	5122	broad.mit.edu	37	chr5	95746664	95746664	+	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	ccgtttcccgaagcccagacGaagatggaccccttcccctg	8	7	9	17	3	0	2	0	0	0	2	2	5	2	3	7	1	1	1	7	1	2	2	rs376062034		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:95746664G>A	ENST00000311106.3	-	8	1146	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PCSK1_ENST00000508626.1_Silent_p.F256F|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAGCCCAGACGAAGATGGACC	0.498																																						.											0													142	136	138					5																	95746664		2203	4300	6503	SO:0001819	synonymous_variant	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.909C>T	5.37:g.95746664G>A			B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	CCDS4081.1																																																																																				0.498	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		A	95746664	G	A	95746664	2	1	2	1	0	0	0	0	0	0	0	1	11600	1049	37	1		1	PCSK1	5	95746664	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10		95746664	85168596	29	96											
FBXL17	64839	broad.mit.edu	37	chr5	107700539	107700539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caataatagaggtgtcagaaAgctgtttacacctgtaggct	13	11	10	7	0	1	2	1	0	0	2	1	2	1	2	1	2	2	4	1	2	6	5			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:107700539A>G	ENST00000542267.1	-	3	1680	c.1274T>C	c.(1273-1275)cTt>cCt	p.L425P	FBXL17_ENST00000496714.1_Missense_Mutation_p.L27P|FBXL17_ENST00000359660.5_Missense_Mutation_p.L27P	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	425										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGTGTCAGAAAGCTGTTTACA	0.423																																						.											0													128	124	125					5																	107700539		2202	4299	6501	SO:0001583	missense	64839			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1274T>C	5.37:g.107700539A>G	ENSP00000437464:p.Leu425Pro		A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404130	0.83230	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02737	4.18;4.18;4.18	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00139	-1.2001	10	0.87932	D	0	.	15.6111	0.76716	1.0:0.0:0.0:0.0	.	425;27	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	P	27;425;27	ENSP00000352683:L27P;ENSP00000437464:L425P;ENSP00000418111:L27P	ENSP00000352683:L27P	L	-	2	0	FBXL17	107728438	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.870000	0.92336	2.136000	0.66102	0.477000	0.44152	CTT		0.423	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	107700539	A	G	107700539	3	3	2	1	0	0	0	0	1	0	0	0	5713	72	3	2	859	2	FBXL17	5	107700539	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	11953875	107700539	73214721	30	97											
PCDHB9	56126	broad.mit.edu;mdanderson.org	37	chr5	140569001	140569001	+	5'Flank	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcgctcttcctcctcTcggtgctcctgttcgtggcg	0	16	10	15	4	3	0	0	0	3	0	9	0	6	0	3	2	1	3	3	2	0	3			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:140569001T>C	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						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)			CTTCCTCCTCTCGGTGCTCCT	0.701																																						.											0													48	56	53					5																	140569001		2175	4215	6390	SO:0001631	upstream_gene_variant	56127			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		5.37:g.140569001T>C	Exception_encountered		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																				0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140569001	T	C	140569001	1	2	2	0	1	0	0	0	0	0	0	0	11549	1538	54	2		2	PCDHB9	5	140569001	5'Flank	SNP	T	TCGA-KL-8324-01A-11D-2310-10	32868462	140569001	40346259	31	98											
FRK	2444	broad.mit.edu	37	chr6	116325094	116325094	+	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	ttctctgattagaaaggaacCggtcttgttttctgaatata	11	16	8	6	1	3	3	0	2	3	1	4	4	3	4	1	2	1	1	1	2	6	7			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:116325094C>T	ENST00000606080.1	-	2	858	c.412G>A	c.(412-414)Ggt>Agt	p.G138S	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	138	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G138R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGAAAGGAACCGGTCTTGTTT	0.368																																						.											1	Substitution - Missense(1)	endometrium(1)											86	81	83					6																	116325094		2203	4300	6503	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.412G>A	6.37:g.116325094C>T	ENSP00000476145:p.Gly138Ser		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361640	0.82353	.	.	ENSG00000111816	ENST00000368626	T	0.75704	-0.96	5.97	5.97	0.96955	SH2 motif (5);	0.000000	0.64402	D	0.000005	T	0.81093	0.4751	H	0.97023	3.925	0.80722	D	1	B	0.30114	0.269	B	0.28232	0.087	T	0.83070	-0.0143	10	0.72032	D	0.01	.	19.9934	0.97376	0.0:1.0:0.0:0.0	.	138	P42685	FRK_HUMAN	S	138	ENSP00000357615:G138S	ENSP00000357615:G138S	G	-	1	0	FRK	116431787	1.000000	0.71417	0.969000	0.41365	0.956000	0.61745	6.360000	0.73064	2.825000	0.97269	0.655000	0.94253	GGT		0.368	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		T	116325094	C	T	116325094	3	4	2	1	0	0	0	0	1	0	0	0	6048	652	23	1	1133	1	FRK	6	116325094	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10		116325094	54789973	32	99											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	152652931	152652931	+	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	tatcattttctgcttttgatCtttcagatcttcaatagcat	9	20	4	8	0	6	2	3	1	3	1	6	2	6	2	0	0	2	2	0	0	3	8			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:152652931C>G	ENST00000367255.5	-	78	13490	c.12889G>C	c.(12889-12891)Gat>Cat	p.D4297H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D4162H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D4297H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4226H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D4226H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4297					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)		TGCTTTTGATCTTTCAGATCT	0.398										HNSCC(10;0.0054)																												.											0													100	99	99					6																	152652931		2203	4300	6503	SO:0001583	missense	23345			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.12889G>C	6.37:g.152652931C>G	ENSP00000356224:p.Asp4297His		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	12.88	2.069699	0.36470	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.66	5.66	0.87406	.	0.414806	0.22380	N	0.060840	T	0.46756	0.1409	M	0.63428	1.95	0.80722	D	1	D;P;P;P	0.59767	0.986;0.668;0.668;0.776	P;P;P;P	0.56434	0.798;0.579;0.579;0.759	T	0.41431	-0.9509	10	0.56958	D	0.05	.	19.7449	0.96248	0.0:1.0:0.0:0.0	.	4297;4297;4297;4226	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	4297;4226;4297;4226;4162	ENSP00000356224:D4297H;ENSP00000396024:D4226H;ENSP00000265368:D4297H;ENSP00000390975:D4226H;ENSP00000341887:D4162H	ENSP00000265368:D4297H	D	-	1	0	SYNE1	152694624	1.000000	0.71417	0.981000	0.43875	0.947000	0.59692	3.922000	0.56462	2.677000	0.91161	0.591000	0.81541	GAT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152652931	C	G	152652931	3	3	2	1	0	0	0	0	1	0	0	0	15442	913	32	5	13853	5	SYNE1	6	152652931	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	36327837	152652931	18462136	33	100											
WIPF3	644150	mdanderson.org	37	chr7	29923572	29923572	+	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	gcctctcccaggctaggcaaTacctccgaggcgcatggcgc	7	6	12	16	3	1	0	0	0	1	0	3	1	2	0	4	4	1	3	4	4	3	2	rs28439342	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:29923572T>C	ENST00000409290.1	+	4	462	c.462T>C	c.(460-462)aaT>aaC	p.N154N	WIPF3_ENST00000409123.1_Silent_p.N154N|WIPF3_ENST00000242140.5_Silent_p.N154N	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	154					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGCTAGGCAATACCTCCGAGG	0.721													T|||	805	0.160743	0.2859	0.1081	5008	,	,		5568	0.0308		0.1769	False		,,,				2504	0.1462					.											0								T		655,2473		59,537,968	3	4	4		462	-0.9	0	7	dbSNP_125	4	938,6434		63,812,2811	no	coding-synonymous	WIPF3	NM_001080529.2		122,1349,3779	CC,CT,TT		12.7238,20.9399,15.1714		154/484	29923572	1593,8907	1564	3686	5250	SO:0001819	synonymous_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.462T>C	7.37:g.29923572T>C			B8ZZV2	Silent	SNP	ENST00000409290.1	37	CCDS56472.1																																																																																				0.721	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			C	29923572	T	C	29923572	2	2	2	1	0	0	0	0	0	0	0	1	17366	1403	49	4		4	WIPF3	7	29923572	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10		29923572	129215091	34	101											
PCLO	27445	broad.mit.edu	37	chr7	82585926	82585926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctgagttttctcttggTctttaggctgttcaggagaa	8	16	10	7	0	4	2	1	1	3	1	5	3	4	2	0	3	1	3	0	3	3	6			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:82585926T>C	ENST00000333891.9	-	5	4680	c.4343A>G	c.(4342-4344)gAc>gGc	p.D1448G	PCLO_ENST00000423517.2_Missense_Mutation_p.D1448G	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						TTTCTCTTGGTCTTTAGGCTG	0.363																																						.											0													116	108	110					7																	82585926		1815	4078	5893	SO:0001583	missense	27445			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.4343A>G	7.37:g.82585926T>C	ENSP00000334319:p.Asp1448Gly			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	8.525	0.869716	0.17322	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.34	5.58	4.42	0.53409	.	.	.	.	.	T	0.16938	0.0407	L	0.42245	1.32	0.80722	D	1	B;B	0.20550	0.011;0.046	B;B	0.22601	0.018;0.04	T	0.02457	-1.1156	9	0.87932	D	0	.	11.5729	0.50845	0.0:0.0701:0.0:0.9299	.	1448;1448	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1379;1448;1448	ENSP00000334319:D1448G;ENSP00000388393:D1448G	ENSP00000334319:D1448G	D	-	2	0	PCLO	82423862	0.998000	0.40836	0.045000	0.18777	0.354000	0.29330	2.943000	0.49026	0.952000	0.37798	0.529000	0.55759	GAC		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82585926	T	C	82585926	3	2	2	1	0	0	0	0	1	0	0	0	11583	1667	58	2	11186	2	PCLO	7	82585926	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	52662354	82585926	76552737	35	102											
MET	4233	broad.mit.edu	37	chr7	116411695	116411695	+	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	ttcctgtggctgaaaaagagAaagcaaattaaaggtgcatt	16	10	10	5	0	0	2	0	1	0	1	1	3	1	2	1	2	2	3	1	2	6	3			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:116411695A>G	ENST00000318493.6	+	13	3115	c.2928A>G	c.(2926-2928)agA>agG	p.R976R	MET_ENST00000397752.3_Silent_p.R958R			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGAAAAAGAGAAAGCAAATTA	0.358			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													.		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													101	96	97					7																	116411695		1853	4093	5946	SO:0001819	synonymous_variant	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2928A>G	7.37:g.116411695A>G			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																				0.358	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			G	116411695	A	G	116411695	2	3	2	1	0	0	0	0	0	0	0	1	9485	243	9	4		4	MET	7	116411695	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	33825769	116411695	42726968	36	103											
SORBS3	10174	bcgsc.ca	37	chr8	22426778	22426778	+	Missense_Mutation	SNP	T	T	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	acctggaggtggagctgtccTtccgcaaggtgggccaggcc	6	7	16	12	1	0	0	0	0	0	0	2	2	2	2	5	6	1	2	5	6	1	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:22426778T>C	ENST00000240123.7	+	17	1806	c.1423T>C	c.(1423-1425)Ttc>Ctc	p.F475L	SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Missense_Mutation_p.F133L|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	475	Binds to vinculin.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGAGCTGTCCTTCCGCAAGGT	0.562																																						.											0													36	32	34					8																	22426778		2203	4300	6503	SO:0001583	missense	10174				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.1423T>C	8.37:g.22426778T>C	ENSP00000240123:p.Phe475Leu		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.86|11.86	1.763286|1.763286	0.31228|0.31228	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000518912;ENST00000523965;ENST00000523348|ENST00000521554	T;T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.62;1.51;1.51|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Src homology-3 domain (4);|.	0.133145|.	0.34460|.	N|.	0.003955|.	T|T	0.42154|0.42154	0.1190|0.1190	N|N	0.16037|0.16037	0.36|0.36	0.49582|0.49582	D|D	0.999804|0.999804	P|.	0.38250|.	0.624|.	P|.	0.55161|.	0.77|.	T|T	0.34650|0.34650	-0.9820|-0.9820	10|5	0.25751|.	T|.	0.34|.	-20.2159|-20.2159	13.266|13.266	0.60133|0.60133	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	475|.	O60504|.	VINEX_HUMAN|.	L|P	475;133;133;133;133;86|146	ENSP00000240123:F475L;ENSP00000431128:F133L;ENSP00000408476:F133L;ENSP00000429887:F133L;ENSP00000429764:F133L;ENSP00000428678:F86L|.	ENSP00000240123:F475L|.	F|L	+|+	1|2	0|0	SORBS3|SORBS3	22482723|22482723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.814000|5.814000	0.69208|0.69208	2.117000|2.117000	0.64856|0.64856	0.460000|0.460000	0.39030|0.39030	TTC|CTT		0.562	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		C	22426778	T	C	22426778	3	2	2	1	0	0	0	0	1	0	0	0	14929	1609	56	2	1485	2	SORBS3	8	22426778	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		22426778	123937244	37	104											
KCNS2	3788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	99440360	99440360	+	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	cgcttgctgctctgccactcGcgcgaggccattctggagct	4	10	12	15	4	2	0	0	0	2	0	3	2	2	1	2	2	4	4	2	2	0	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:99440360G>A	ENST00000287042.4	+	2	503	c.153G>A	c.(151-153)tcG>tcA	p.S51S	KCNS2_ENST00000521839.1_Silent_p.S51S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	51					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)			TCTGCCACTCGCGCGAGGCCA	0.632																																					Pancreas(138;844 2489 9202 24627)	.											0													68	60	63					8																	99440360		2203	4300	6503	SO:0001819	synonymous_variant	3788			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.153G>A	8.37:g.99440360G>A			A8KAN1	Silent	SNP	ENST00000287042.4	37	CCDS6279.1																																																																																				0.632	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		A	99440360	G	A	99440360	2	1	2	1	0	0	0	0	0	0	0	1	8089	1074	38	1		1	KCNS2	8	99440360	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	77013582	99440360	46923662	38	105											
OXR1	55074	broad.mit.edu	37	chr8	107715150	107715150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggcacagtcagtggtgTgctgctagttacaccaaata	11	11	11	8	0	1	0	1	0	0	0	1	0	1	0	1	2	3	4	1	2	5	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:107715150T>C	ENST00000442977.2	+	7	794	c.695T>C	c.(694-696)gTg>gCg	p.V232A	OXR1_ENST00000517566.2_Missense_Mutation_p.V231A|OXR1_ENST00000445937.1_Missense_Mutation_p.V231A|OXR1_ENST00000497705.1_Missense_Mutation_p.V164A|OXR1_ENST00000531443.1_Missense_Mutation_p.V231A|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.V224A	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	232	GRAM.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTCAGTGGTGTGCTGCTAGTT	0.348																																						.											0													88	85	86					8																	107715150		2203	4300	6503	SO:0001583	missense	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.695T>C	8.37:g.107715150T>C	ENSP00000405424:p.Val232Ala		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.626540|4.626540	0.87560|0.87560	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000517455|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T	.|0.34275	.|2.24;2.24;2.23;2.22;1.37;2.25	5.27|5.27	5.27|5.27	0.74061|0.74061	.|GRAM (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59715|0.59715	0.2214|0.2214	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.999;0.998;0.998	T|T	0.62397|0.62397	-0.6863|-0.6863	5|10	.|0.54805	.|T	.|0.06	-26.8986|-26.8986	15.4811|15.4811	0.75528|0.75528	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|224;232;164;231	.|Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.	R|A	148|231;231;231;232;164;224	.|ENSP00000402918:V231A;ENSP00000431966:V231A;ENSP00000429205:V231A;ENSP00000405424:V232A;ENSP00000431014:V164A;ENSP00000311026:V224A	.|ENSP00000311026:V224A	C|V	+|+	1|2	0|0	OXR1|OXR1	107784326|107784326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.945000|7.945000	0.87732|0.87732	2.116000|2.116000	0.64780|0.64780	0.528000|0.528000	0.53228|0.53228	TGC|GTG		0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		C	107715150	T	C	107715150	3	2	2	1	0	0	0	0	1	0	0	0	11334	1696	59	2	921	2	OXR1	8	107715150	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	8274790	107715150	38648872	39	106											
ST3GAL1	6482	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr8	134474162	134474162	+	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	gatgaccgagaggatgccggTagatgggtatcgcccgtgcc	8	7	16	10	4	0	3	0	1	0	2	1	6	0	4	4	3	2	2	4	3	2	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:134474162T>G	ENST00000319914.5	-	8	1832	c.805A>C	c.(805-807)Acc>Ccc	p.T269P	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.T269P|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.T269P|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.T269P			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	269					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)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|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)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			AGGATGCCGGTAGATGGGTAT	0.587																																						.											0													171	140	151					8																	134474162		2203	4300	6503	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.805A>C	8.37:g.134474162T>G	ENSP00000318445:p.Thr269Pro		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709084	0.89018	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83404	0.0024	10	0.72032	D	0.01	-5.3127	14.1925	0.65646	0.0:0.0:0.0:1.0	.	269	Q11201	SIA4A_HUMAN	P	269	ENSP00000318445:T269P;ENSP00000414073:T269P;ENSP00000428540:T269P;ENSP00000430515:T269P	ENSP00000318445:T269P	T	-	1	0	ST3GAL1	134543344	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	7.996000	0.88334	2.018000	0.59344	0.533000	0.62120	ACC		0.587	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		G	134474162	T	G	134474162	3	3	2	1	0	0	0	0	1	0	0	0	15213	1638	57	5	225	5	ST3GAL1	8	134474162	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	26759012	134474162	11889860	40	107											
CYP11B1	1584	mdanderson.org	37	chr8	143957129	143957129	+	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	ggcctcagccagcacccaccGcaaggtctccttgagggccg	7	5	12	17	2	2	1	1	1	1	0	3	1	2	1	6	3	2	2	6	3	1	1	rs61752786	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:143957129G>T	ENST00000292427.4	-	6	1152	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R	CYP11B1_ENST00000517471.1_Splice_Site_p.R374R|CYP11B1_ENST00000377675.3_Splice_Site_p.R445R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	374			R -> Q (in AH4).		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGCACCCACCGCAAGGTCTCC	0.672									Familial Hyperaldosteronism type I																													.											0								T	,	13,4393		0,13,2190	43	45	45		1120,1120	1.7	1	8	dbSNP_129	45	216,8384		3,210,4087	no	coding-synonymous-near-splice,coding-synonymous-near-splice	CYP11B1	NM_000497.3,NM_001026213.1	,	3,223,6277	TT,TG,GG		2.5116,0.2951,1.7607	,	374/504,374/438	143957129	229,12777	2203	4300	6503	SO:0001630	splice_region_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1121+1C>A	8.37:g.143957129G>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.672	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		Silent	T	143957129	G	T	143957129	5	4	2	1	0	0	0	0	0	0	1	0	4145	1101	38	5	407	5	CYP11B1	8	143957129	Splice_Site	SNP	G	TCGA-KL-8324-01A-11D-2310-10	9482967	143957129	2406893	41	108			1	1		2	2	23	N	G_A	7.603876e-05
CYP11B1	1584	mdanderson.org	37	chr8	143957151	143957151	+	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	aaggtctccttgagggccgcAcgcagcaagggcagctcggt	8	6	15	12	3	1	1	0	1	1	0	3	1	1	1	2	4	2	5	2	4	2	1	rs61752769	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:143957151A>C	ENST00000292427.4	-	6	1130	c.1098T>G	c.(1096-1098)cgT>cgG	p.R366R	CYP11B1_ENST00000517471.1_Silent_p.R366R|CYP11B1_ENST00000377675.3_Silent_p.R437R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	366					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGAGGGCCGCACGCAGCAAGG	0.692									Familial Hyperaldosteronism type I				.|||	96	0.0191693	0.0613	0.0043	5008	,	,		16429	0.002		0.002	False		,,,				2504	0.0082					.											0													63	65	64					8																	143957151		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1098T>G	8.37:g.143957151A>C			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.692	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			C	143957151	A	C	143957151	2	2	2	1	0	0	0	0	0	0	0	1	4145	146	6	5		5	CYP11B1	8	143957151	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	22	143957151	2406871	42	109			1	1		2	2	23	N	G_A	7.603876e-05
ANKRD20A1	84210	mdanderson.org	37	chr9	67938655	67938655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacttaaaaaggagaaaTcaggtaagacttctgattgt	17	11	9	4	0	2	4	1	1	1	3	2	5	2	4	0	2	1	1	0	2	6	5	rs199656293	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr9:67938655T>C	ENST00000377477.2	+	6	902	c.790T>C	c.(790-792)Tca>Cca	p.S264P	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	264						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAAGGAGAAATCAGGTAAGAC	0.264																																						.											0													10	13	12					9																	67938655		1494	3078	4572	SO:0001583	missense	441425			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.790T>C	9.37:g.67938655T>C	ENSP00000366697:p.Ser264Pro		Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	3.407	-0.121042	0.06838	.	.	ENSG00000196774	ENST00000377477	T	0.37752	1.18	1.32	-1.45	0.08828	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21211	-1.0252	9	0.29301	T	0.29	.	4.2684	0.10775	0.0:0.4658:0.0:0.5342	.	264	Q5TYW2	A20A1_HUMAN	P	264	ENSP00000366697:S264P	ENSP00000366697:S264P	S	+	1	0	ANKRD20A1	67528475	0.006000	0.16342	0.078000	0.20375	0.171000	0.22731	-0.450000	0.06803	-0.404000	0.07610	0.055000	0.15244	TCA		0.264	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			C	67938655	T	C	67938655	3	2	2	1	0	0	0	0	1	0	0	0	648	1435	50	4	812	4	ANKRD20A1	9	67938655	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		67938655	73274776	43	110											
SETX	23064	broad.mit.edu;mdanderson.org	37	chr9	135203956	135203956	+	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	aaataataataacctgtccaCgggaggtatctccaacatta	16	10	6	9	1	1	0	0	0	1	0	3	1	2	1	3	2	2	1	3	2	7	5	rs370781594		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr9:135203956C>T	ENST00000224140.5	-	10	3211	c.3029G>A	c.(3028-3030)cGt>cAt	p.R1010H	SETX_ENST00000372169.2_Missense_Mutation_p.R1010H|SETX_ENST00000393220.1_Missense_Mutation_p.R1010H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1010					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)		AACCTGTCCACGGGAGGTATC	0.388																																						.											0								C	HIS/ARG	0,4406		0,0,2203	103	105	104		3029	-3.9	0	9		104	2,8598	2.2+/-6.3	0,2,4298	no	missense	SETX	NM_015046.5	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1010/2678	135203956	2,13004	2203	4300	6503	SO:0001583	missense	23064			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.3029G>A	9.37:g.135203956C>T	ENSP00000224140:p.Arg1010His		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317689	0.05386	0.0	2.33E-4	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86497	-2.04;-2.13;-1.74	5.31	-3.86	0.04230	.	9.273830	0.00166	N	0.000000	T	0.70806	0.3266	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.62148	-0.6915	10	0.15066	T	0.55	.	5.3226	0.15889	0.2176:0.3268:0.0:0.4556	.	1010;1010;1010	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	1010	ENSP00000224140:R1010H;ENSP00000361242:R1010H;ENSP00000376913:R1010H	ENSP00000224140:R1010H	R	-	2	0	SETX	134193777	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.513000	0.02256	-0.781000	0.04548	-0.768000	0.03414	CGT		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		T	135203956	C	T	135203956	3	4	2	1	0	0	0	0	1	0	0	0	14141	536	19	1	5072	1	SETX	9	135203956	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	67265301	135203956	6009475	44	111											
KIF5B	3799	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr10	32321694	32321694	+	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	agttgactttgctggttaatTtcttcatcctagaattgtga	9	18	8	6	0	2	3	1	2	1	1	3	3	3	3	1	1	1	3	1	1	3	7			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:32321694T>A	ENST00000302418.4	-	13	1771	c.1314A>T	c.(1312-1314)gaA>gaT	p.E438D		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	438					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)				GCTGGTTAATTTCTTCATCCT	0.393			T	"RET, ALK"	NSCLC																																	.		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													179	160	166					10																	32321694		2203	4300	6503	SO:0001583	missense	3799			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.1314A>T	10.37:g.32321694T>A	ENSP00000307078:p.Glu438Asp		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180248	0.57800	.	.	ENSG00000170759	ENST00000302418	D	0.82526	-1.62	5.47	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	L	0.56396	1.775	0.49582	D	0.999803	B	0.32010	0.351	B	0.36418	0.224	T	0.71163	-0.4673	10	0.24483	T	0.36	.	7.9369	0.29935	0.0:0.1602:0.0:0.8398	.	438	P33176	KINH_HUMAN	D	438	ENSP00000307078:E438D	ENSP00000307078:E438D	E	-	3	2	KIF5B	32361700	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.426000	0.44731	0.929000	0.37192	0.383000	0.25322	GAA		0.393	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		A	32321694	T	A	32321694	3	1	2	1	0	0	0	0	1	0	0	0	8306	1838	64	5	1629	5	KIF5B	10	32321694	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		32321694	103213053	45	112											
RRP12	23223	broad.mit.edu	37	chr10	99130534	99130534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagcttcctcacgatgtgtAggaggcacttcaaacggggc	10	8	13	10	2	2	1	2	0	0	1	3	3	3	2	1	4	2	3	1	4	2	3			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:99130534A>G	ENST00000370992.4	-	22	2633	c.2522T>C	c.(2521-2523)cTa>cCa	p.L841P	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.L559P|RRP12_ENST00000414986.1_Missense_Mutation_p.L780P|RRP12_ENST00000315563.6_Missense_Mutation_p.L741P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	841						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)		CACGATGTGTAGGAGGCACTT	0.567																																						.											0													82	80	81					10																	99130534		2203	4300	6503	SO:0001583	missense	23223				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.2522T>C	10.37:g.99130534A>G	ENSP00000360031:p.Leu841Pro		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.070355	0.36566	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.343967	0.31709	N	0.007181	T	0.46092	0.1375	N	0.08118	0	0.51482	D	0.999924	P;P;P;B	0.44195	0.661;0.496;0.828;0.079	B;B;B;B	0.43783	0.165;0.191;0.431;0.069	T	0.50625	-0.8806	10	0.36615	T	0.2	-8.0646	14.4025	0.67056	1.0:0.0:0.0:0.0	.	780;741;559;841	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	P	841;741;780;559	ENSP00000360031:L841P;ENSP00000324315:L741P;ENSP00000414863:L780P;ENSP00000446184:L559P	ENSP00000324315:L741P	L	-	2	0	RRP12	99120524	1.000000	0.71417	0.974000	0.42286	0.491000	0.33493	4.326000	0.59241	1.801000	0.52704	0.260000	0.18958	CTA		0.567	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		G	99130534	A	G	99130534	3	3	2	1	0	0	0	0	1	0	0	0	13686	420	15	2	1423	2	RRP12	10	99130534	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	66808840	99130534	36404213	46	113											
MKI67	4288	broad.mit.edu	37	chr10	129899864	129899864	+	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	gaggtcttcatgggcttcttTtcatttctgtttatttctat	5	22	7	7	0	6	0	2	0	4	0	6	1	6	0	0	2	0	2	0	2	2	9			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:129899864T>C	ENST00000368654.3	-	14	9738	c.9363A>G	c.(9361-9363)gaA>gaG	p.E3121E	MKI67_ENST00000368653.3_Silent_p.E2761E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3121					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)				TGGGCTTCTTTTCATTTCTGT	0.433																																						.											0													111	117	115					10																	129899864		2203	4300	6503	SO:0001819	synonymous_variant	4288			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.9363A>G	10.37:g.129899864T>C			Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129899864	T	C	129899864	2	2	2	1	0	0	0	0	0	0	0	1	9598	1838	64	4		4	MKI67	10	129899864	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	30769330	129899864	5634883	47	114											
MUC5B	727897	mdanderson.org	37	chr11	1268402	1268402	+	Missense_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	cacacctgcagccaccagcaGcacagtgactccctcctctg	9	6	7	19	0	1	1	0	1	1	0	3	1	3	1	5	0	4	3	5	0	0	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:1268402G>A	ENST00000529681.1	+	31	10350	c.10292G>A	c.(10291-10293)aGc>aAc	p.S3431N	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3434N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	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)		p.S3410N(1)		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)		gccaccagcagcacAGTGACT	0.682																																						.											1	Substitution - Missense(1)	prostate(1)											41	76	64					11																	1268402		2093	4144	6237	SO:0001583	missense	727897			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.10292G>A	11.37:g.1268402G>A	ENSP00000436812:p.Ser3431Asn		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180464	0.06380	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20598	2.06;2.24	2.38	-2.65	0.06095	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.31888	-0.9927	9	0.87932	D	0	.	2.2793	0.04110	0.1745:0.3567:0.3457:0.1231	.	3434	E9PBJ0	.	N	3431;3434;3403	ENSP00000436812:S3431N;ENSP00000415793:S3434N	ENSP00000343037:S3403N	S	+	2	0	MUC5B	1224978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.630000	0.05567	-0.714000	0.03626	AGC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1268402	G	A	1268402	3	1	2	1	0	0	0	0	1	0	0	0	9979	971	34	4	10423	4	MUC5B	11	1268402	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10		1268402	133738114	48	115											
OR52D1	390066	broad.mit.edu;mdanderson.org	37	chr11	5510050	5510050	+	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	atccctttctgtgccatgtaTcttgtagcactggttggaaa	8	15	9	9	0	2	0	0	0	2	0	3	1	3	1	2	2	2	4	2	2	3	5			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:5510050T>C	ENST00000322641.5	+	1	136	c.114T>C	c.(112-114)taT>taC	p.Y38Y	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	38					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)		GTGCCATGTATCTTGTAGCAC	0.507																																						.											0													248	200	216					11																	5510050		2201	4297	6498	SO:0001819	synonymous_variant	390066			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.114T>C	11.37:g.5510050T>C			B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	CCDS31384.1																																																																																				0.507	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		C	5510050	T	C	5510050	2	2	2	1	0	0	0	0	0	0	0	1	11114	1442	50	4		4	OR52D1	11	5510050	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	4241648	5510050	129496466	49	116											
OR56A3	390083	broad.mit.edu	37	chr11	5969446	5969446	+	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	caccatgtcattcctgcagcCcttaaccccatcatttacgg	9	11	5	16	1	2	0	2	0	0	0	3	0	3	0	5	1	4	1	5	1	2	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:5969446C>A	ENST00000329564.6	+	1	877	c.870C>A	c.(868-870)gcC>gcA	p.A290A		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTGCAGCCCTTAACCCCA	0.478																																						.											0													127	120	123					11																	5969446		2062	4221	6283	SO:0001819	synonymous_variant	390083				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.870C>A	11.37:g.5969446C>A			A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	CCDS41614.1																																																																																				0.478	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		A	5969446	C	A	5969446	2	1	2	1	0	0	0	0	0	0	0	1	11134	610	22	5		5	OR56A3	11	5969446	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	459396	5969446	129037070	50	117											
DNHD1	144132	broad.mit.edu	37	chr11	6566233	6566234	+	Frame_Shift_Ins	INS	-	-	C																															ctctatggggtgtgtgctcaINScttcccccgcctcttcttcc																										TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:6566233_6566234insC	ENST00000527990.2	+	19	4064_4065	c.4064_4065insC	c.(4063-4068)cacttcfs	p.F1356fs	DNHD1_ENST00000254579.6_Frame_Shift_Ins_p.F1356fs			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1356					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)		GTGTGTGCTCACTTCCCCCGCC	0.579																																						.											0																																										SO:0001589	frameshift_variant	144132			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.4065dupC	11.37:g.6566234_6566234dupC	ENSP00000436180:p.Phe1356fs		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Frame_Shift_Ins	INS	ENST00000527990.2	37	CCDS44532.1																																																																																				0.579	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6566234	-	C	6566233	7	5	2	1	0	1	1	0	0	0	0	0	4668	159	6	0	4147	0	DNHD1	11	6566233	Frame_Shift_Ins	INS	-	TCGA-KL-8324-01A-11D-2310-10	596787	6566233	128440283	51	118											
KCNJ11	3767	broad.mit.edu	37	chr11	17408682	17408682	+	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	taacgtccgtcctcctcagcTacaatgggcacaaagcgctg	10	8	9	14	3	1	0	1	0	0	0	4	0	4	0	3	1	4	3	3	1	4	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:17408682T>C	ENST00000339994.4	-	1	1524	c.957A>G	c.(955-957)gtA>gtG	p.V319V	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Silent_p.V232V	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	319					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)	CCTCCTCAGCTACAATGGGCA	0.612											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													156	136	143					11																	17408682		2200	4293	6493	SO:0001819	synonymous_variant	3767			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.957A>G	11.37:g.17408682T>C		717	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	CCDS31436.1																																																																																				0.612	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		C	17408682	T	C	17408682	2	2	2	1	0	0	0	0	0	0	0	1	8045	1509	53	2		2	KCNJ11	11	17408682	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	10842449	17408682	117597834	52	119											
TMEM86A	144110	broad.mit.edu	37	chr11	18723333	18723334	+	Frame_Shift_Ins	INS	-	-	G																															gctatggcagggctgcggctINSggccggggcagactggcgct																										TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:18723333_18723334insG	ENST00000280734.2	+	3	596_597	c.500_501insG	c.(499-504)ctggccfs	p.A168fs		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	168						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGGCTGCGGCTGGCCGGGGCAG	0.594																																						.											0																																										SO:0001589	frameshift_variant	144110			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.502dupG	11.37:g.18723335_18723335dupG	ENSP00000280734:p.Ala168fs		Q96AJ0	Frame_Shift_Ins	INS	ENST00000280734.2	37	CCDS7844.1																																																																																				0.594	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		G	18723334	-	G	18723333	7	5	2	1	0	1	1	0	0	0	0	0	16205	1580	55	0	510	0	TMEM86A	11	18723333	Frame_Shift_Ins	INS	-	TCGA-KL-8324-01A-11D-2310-10	1314651	18723333	116283183	53	120											
MPPED2	744	broad.mit.edu	37	chr11	30601906	30601906	+	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	gtaactttgccttgagaaggAatcccatgtgccatccttcc	9	12	8	12	0	0	1	0	1	0	1	3	3	3	2	5	1	3	1	5	1	3	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:30601906A>G	ENST00000358117.5	-	1	137	c.15T>C	c.(13-15)atT>atC	p.I5I	MPPED2_ENST00000448418.2_Silent_p.I5I	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	5					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTTGAGAAGGAATCCCATGTG	0.493																																						.											0													242	193	209					11																	30601906		2202	4299	6501	SO:0001819	synonymous_variant	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.15T>C	11.37:g.30601906A>G			D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	CCDS7870.1																																																																																				0.493	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		G	30601906	A	G	30601906	2	3	2	1	0	0	0	0	0	0	0	1	9742	242	9	4		4	MPPED2	11	30601906	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	11878573	30601906	104404610	54	121											
OR4A5	81318	mdanderson.org	37	chr11	51412043	51412043	+	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	agatggccacatagcgatcaCaggccatcaccaccagaagg	14	4	10	13	1	2	2	2	0	0	2	2	3	2	2	4	3	1	0	4	3	2	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:51412043C>T	ENST00000319760.6	-	1	405	c.353G>A	c.(352-354)tGt>tAt	p.C118Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAGCGATCACAGGCCATCAC	0.468																																						.											0													71	68	69					11																	51412043		2201	4296	6497	SO:0001583	missense	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.353G>A	11.37:g.51412043C>T	ENSP00000367664:p.Cys118Tyr		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.423436	0.00013	.	.	ENSG00000221840	ENST00000319760	T	0.02944	4.1	1.93	-0.94	0.10405	GPCR, rhodopsin-like superfamily (1);	0.337598	0.21438	N	0.074538	T	0.00384	0.0012	N	0.00009	-3.08	0.23107	N	0.998289	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	10	0.02654	T	1	.	5.5659	0.17170	0.0:0.3083:0.0:0.6917	.	118	Q8NH83	OR4A5_HUMAN	Y	118	ENSP00000367664:C118Y	ENSP00000367664:C118Y	C	-	2	0	OR4A5	51268619	0.534000	0.26362	0.997000	0.53966	0.143000	0.21401	0.263000	0.18478	-0.164000	0.10927	-1.252000	0.01501	TGT		0.468	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		T	51412043	C	T	51412043	3	4	2	1	0	0	0	0	1	0	0	0	11043	478	17	4	598	4	OR4A5	11	51412043	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	20810137	51412043	83594473	55	122											
OR5M8	219484	mdanderson.org	37	chr11	56258310	56258310	+	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	agcttaatcagtggtgggtcCgcacagtagaagtgattaat	12	11	12	6	1	1	2	1	1	0	1	2	2	2	2	1	2	1	3	1	2	4	3	rs150358569	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:56258310C>T	ENST00000327216.2	-	1	561	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	179						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(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GTGGTGGGTCCGCACAGTAGA	0.473													C|||	2	0.000399361	0	0	5008	,	,		18449	0		0.002	False		,,,				2504	0					.											0													93	92	93					11																	56258310		2201	4296	6497	SO:0001819	synonymous_variant	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.537G>A	11.37:g.56258310C>T			B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	CCDS31533.1																																																																																				0.473	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		T	56258310	C	T	56258310	2	4	2	1	0	0	0	0	0	0	0	1	11176	639	23	1		1	OR5M8	11	56258310	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	4846267	56258310	78748206	56	123											
EHBP1L1	254102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	65350193	65350193	+	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	tgacccaggagatatctgggGatttagggccactgaagata	12	9	13	7	0	1	4	0	2	1	2	1	6	1	5	2	4	0	0	2	4	4	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:65350193G>T	ENST00000309295.4	+	9	2315	c.2050G>T	c.(2050-2052)Gat>Tat	p.D684Y		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	684	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						GATATCTGGGGATTTAGGGCC	0.507																																						.											0													58	60	59					11																	65350193		1891	4131	6022	SO:0001583	missense	254102			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.2050G>T	11.37:g.65350193G>T	ENSP00000312671:p.Asp684Tyr		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383414	0.42207	.	.	ENSG00000173442	ENST00000309295	T	0.65916	-0.18	4.77	2.88	0.33553	.	0.436525	0.17052	N	0.188887	T	0.40423	0.1116	N	0.19112	0.55	0.09310	N	0.999999	P	0.51653	0.947	B	0.37601	0.254	T	0.24548	-1.0157	10	0.54805	T	0.06	.	7.5216	0.27631	0.0894:0.0:0.7458:0.1648	.	684	Q8N3D4	EH1L1_HUMAN	Y	684	ENSP00000312671:D684Y	ENSP00000312671:D684Y	D	+	1	0	EHBP1L1	65106769	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.315000	0.19451	0.436000	0.26393	0.655000	0.94253	GAT		0.507	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		T	65350193	G	T	65350193	3	4	2	1	0	0	0	0	1	0	0	0	4976	1174	41	5	2084	5	EHBP1L1	11	65350193	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	9091883	65350193	69656323	57	124											
FAM86C	55199	mdanderson.org	37	chr11	71507083	71507083	+	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	acgtgctgtattgcccagaaGccatcgtgtcgctggtcggg	6	10	14	11	4	0	1	0	0	0	1	3	1	0	1	2	2	3	3	2	2	2	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:71507083G>A	ENST00000359244.4	+	4	305	c.282G>A	c.(280-282)aaG>aaA	p.K94K	FAM86C1_ENST00000346333.6_Silent_p.K60K|FAM86C1_ENST00000426628.2_Silent_p.K87K	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	94										lung(1)	1						TTGCCCAGAAGCCATCGTGTC	0.612																																						.											0													44	48	46					11																	71507083		2199	4288	6487	SO:0001819	synonymous_variant	55199			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.282G>A	11.37:g.71507083G>A			Q8N5D3	Silent	SNP	ENST00000359244.4	37	CCDS41686.1																																																																																				0.612	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		A	71507083	G	A	71507083	2	1	2	1	0	0	0	0	0	0	0	1	5646	962	34	4		4	FAM86C	11	71507083	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	6156890	71507083	63499433	58	125											
CLPB	81570	hgsc.bcm.edu;bcgsc.ca	37	chr11	72028203	72028203	+	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	caatgatgtgctcctttagtCgctgctccagggggaagcgg	7	10	14	10	2	0	1	0	1	0	0	3	2	2	2	2	3	3	3	2	3	3	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:72028203C>T	ENST00000294053.3	-	8	1198	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	CLPB_ENST00000543042.1_Missense_Mutation_p.R141Q|CLPB_ENST00000538039.1_Missense_Mutation_p.R312Q|CLPB_ENST00000437826.2_Missense_Mutation_p.R297Q|CLPB_ENST00000340729.5_Missense_Mutation_p.R283Q	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	342					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						CTCCTTTAGTCGCTGCTCCAG	0.632																																						.											0													110	94	99					11																	72028203		2200	4293	6493	SO:0001583	missense	81570			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.1025G>A	11.37:g.72028203C>T	ENSP00000294053:p.Arg342Gln		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.859350|5.859350	0.97036|0.97036	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000544382|ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042	.|T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59197|0.59197	0.2176|0.2176	M|M	0.78049|0.78049	2.395|2.395	0.52099|0.52099	D|D	0.999947|0.999947	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.974;0.995;0.946;0.976;0.997	T|T	0.59742|0.59742	-0.7397|-0.7397	5|10	.|0.54805	.|T	.|0.06	-13.1716|-13.1716	18.4028|18.4028	0.90522|0.90522	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|141;283;297;312;342	.|B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.|.;.;.;.;CLPB_HUMAN	N|Q	120|342;312;347;283;297;141	.|ENSP00000294053:R342Q;ENSP00000441518:R312Q;ENSP00000443822:R347Q;ENSP00000340385:R283Q;ENSP00000407296:R297Q;ENSP00000439746:R141Q	.|ENSP00000294053:R342Q	D|R	-|-	1|2	0|0	CLPB|CLPB	71705851|71705851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.903000|6.903000	0.75703|0.75703	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.632	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		T	72028203	C	T	72028203	3	4	2	1	0	0	0	0	1	0	0	0	3551	884	31	1	1138	1	CLPB	11	72028203	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	521120	72028203	62978313	59	126											
ATM	472	broad.mit.edu	37	chr11	108216609	108216609	+	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	tgagaagcgattggcttataCgcgcagtgtagctacttctt	9	13	11	8	3	1	1	0	1	1	1	1	3	1	1	0	1	4	4	0	1	5	7	rs141534716		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:108216609C>T	ENST00000452508.2	+	59	8747	c.8558C>T	c.(8557-8559)aCg>aTg	p.T2853M	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2853M			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2853	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.T2853M(2)|p.Y2852fs*4(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGGCTTATACGCGCAGTGTA	0.368			"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)																												.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	3	Substitution - Missense(2)|Deletion - Frameshift(1)	endometrium(2)|prostate(1)						C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	141	144	143		8558	5.5	1	11	dbSNP_134	143	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	81	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	2853/3057	108216609	2,12996	2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	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.8558C>T	11.37:g.108216609C>T	ENSP00000388058:p.Thr2853Met		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069148	0.93950	2.27E-4	1.16E-4	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82433	-1.61;-1.61	5.54	5.54	0.83059	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93456	0.6806	10	0.87932	D	0	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	2853	Q13315	ATM_HUMAN	M	2853	ENSP00000278616:T2853M;ENSP00000388058:T2853M	ENSP00000278616:T2853M	T	+	2	0	ATM	107721819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.594000	0.87642	0.650000	0.86243	ACG		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108216609	C	T	108216609	3	4	2	1	0	0	0	0	1	0	0	0	1109	536	19	1	8784	1	ATM	11	108216609	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	36188406	108216609	26789907	60	127											
OR8D4	338662	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	123777314	123777314	+	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	tcgtcaacttcatacccccaTgtactatttcctgagtagtt	9	15	5	12	1	2	1	2	1	0	0	4	1	3	1	3	0	3	3	3	0	5	7			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:123777314T>A	ENST00000321355.2	+	1	206	c.176T>A	c.(175-177)aTg>aAg	p.M59K		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M59T(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CATACCCCCATGTACTATTTC	0.398																																						.											1	Substitution - Missense(1)	lung(1)											246	235	239					11																	123777314		2202	4299	6501	SO:0001583	missense	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.176T>A	11.37:g.123777314T>A	ENSP00000325381:p.Met59Lys		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233122	0.39498	.	.	ENSG00000181518	ENST00000321355	T	0.09911	2.93	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.48077	0.1480	H	0.97682	4.055	0.44098	D	0.996865	D	0.76494	0.999	D	0.69479	0.964	T	0.67280	-0.5710	10	0.87932	D	0	.	14.8892	0.70594	0.0:0.0:0.0:1.0	.	59	Q8NGM9	OR8D4_HUMAN	K	59	ENSP00000325381:M59K	ENSP00000325381:M59K	M	+	2	0	OR8D4	123282524	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	4.803000	0.62546	2.143000	0.66587	0.533000	0.62120	ATG		0.398	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		A	123777314	T	A	123777314	3	1	2	1	0	0	0	0	1	0	0	0	11233	1464	51	5	178	5	OR8D4	11	123777314	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	15560705	123777314	11229202	61	128											
VWA5A	4013	broad.mit.edu	37	chr11	124005629	124005629	+	Missense_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	gtcctgttacaattgcaggtGtttctcatttggtattggag	7	17	11	6	0	1	0	1	0	1	0	3	1	2	1	1	3	2	4	1	3	3	6			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:124005629G>A	ENST00000456829.2	+	12	1498	c.1247G>A	c.(1246-1248)tGt>tAt	p.C416Y	VWA5A_ENST00000392748.1_Missense_Mutation_p.C416Y|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	416	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									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						AATTGCAGGTGTTTCTCATTT	0.408																																						.											0													60	59	59					11																	124005629		2201	4299	6500	SO:0001583	missense	4013			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.1247G>A	11.37:g.124005629G>A	ENSP00000407726:p.Cys416Tyr		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637952	0.67130	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.08546	3.08;3.08	5.86	5.86	0.93980	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06570	-1.0819	10	0.66056	D	0.02	-19.8932	17.6693	0.88212	0.0:0.0:1.0:0.0	.	416	O00534	VMA5A_HUMAN	Y	416	ENSP00000407726:C416Y;ENSP00000376504:C416Y	ENSP00000376504:C416Y	C	+	2	0	VWA5A	123510839	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	7.722000	0.84778	2.774000	0.95407	0.655000	0.94253	TGT		0.408	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		A	124005629	G	A	124005629	3	1	2	1	0	0	0	0	1	0	0	0	17239	1377	48	4	1289	4	VWA5A	11	124005629	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	228315	124005629	11000887	62	129											
OR8B4	283162	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr11	124294671	124294671	+	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	cacagtgaacacatagatccCtaagaatagaaggaaaagag	20	5	9	7	0	0	5	0	1	0	4	1	6	1	6	1	1	1	0	1	1	8	3			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:124294671C>T	ENST00000356130.3	-	1	118	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	33						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(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		ACATAGATCCCTAAGAATAGA	0.453																																						.											0													61	60	60					11																	124294671		2201	4299	6500	SO:0001583	missense	283162			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.97G>A	11.37:g.124294671C>T	ENSP00000348449:p.Gly33Arg		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	c	10.08	1.252464	0.22880	.	.	ENSG00000198657	ENST00000356130	T	0.00441	7.41	4.06	3.1	0.35709	.	0.242372	0.28841	N	0.013974	T	0.00496	0.0016	M	0.75615	2.305	0.09310	N	1	P	0.41159	0.74	P	0.46543	0.52	T	0.41998	-0.9477	10	0.30854	T	0.27	.	4.0815	0.09929	0.1674:0.5804:0.1624:0.0898	.	33	Q96RC9	OR8B4_HUMAN	R	33	ENSP00000348449:G33R	ENSP00000348449:G33R	G	-	1	0	OR8B4	123799881	0.000000	0.05858	0.981000	0.43875	0.226000	0.24999	-2.237000	0.01200	1.238000	0.43771	0.655000	0.94253	GGG		0.453	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		T	124294671	C	T	124294671	3	4	2	1	0	0	0	0	1	0	0	0	11229	681	24	4	834	4	OR8B4	11	124294671	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	289042	124294671	10711845	63	130											
FOXJ2	55810	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr12	8196571	8196571	+	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	cccaagactcaccagaacagGaggcaagcaagagcccacgg	15	1	11	14	1	1	3	1	0	0	3	1	4	1	4	3	3	3	2	3	3	4	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:8196571G>C	ENST00000162391.3	+	5	1647	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E168Q	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	168					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)		ACCAGAACAGGAGGCAAGCAA	0.542																																						.											0													81	80	81					12																	8196571		2203	4300	6503	SO:0001583	missense	55810			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.502G>C	12.37:g.8196571G>C	ENSP00000162391:p.Glu168Gln		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575239	0.65878	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94793	-3.35;-3.52	5.2	5.2	0.72013	.	0.562326	0.16897	N	0.195084	D	0.90466	0.7014	N	0.24115	0.695	0.41544	D	0.988532	B;B	0.29301	0.155;0.241	B;B	0.34931	0.039;0.192	D	0.87667	0.2538	10	0.30078	T	0.28	.	14.2723	0.66159	0.0:0.0:1.0:0.0	.	168;168	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	Q	168	ENSP00000162391:E168Q;ENSP00000403411:E168Q	ENSP00000162391:E168Q	E	+	1	0	FOXJ2	8087838	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.332000	0.72934	2.423000	0.82170	0.561000	0.74099	GAG		0.542	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		C	8196571	G	C	8196571	3	2	2	1	0	0	0	0	1	0	0	0	6012	1175	41	5	516	5	FOXJ2	12	8196571	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10		8196571	125655324	64	131											
TAS2R43	259289	mdanderson.org	37	chr12	11244435	11244435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaaggccccaacaacaTcaccagaatgacactcttaa	17	6	5	13	0	2	2	1	1	1	1	2	2	2	2	3	1	3	1	3	1	6	2	rs11526470		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:11244435T>C	ENST00000531678.1	-	1	477	c.394A>G	c.(394-396)Atg>Gtg	p.M132V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	132					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)		CCCAACAACATCACCAGAATG	0.363																																						.											0								T	VAL/MET	408,3464		164,80,1692	64	58	60		394	2	0	12	dbSNP_132	60	1419,6771		564,291,3240	no	missense	TAS2R43	NM_176884.2	21	728,371,4932	CC,CT,TT		17.326,10.5372,15.1467	benign	132/310	11244435	1827,10235	1936	4095	6031	SO:0001583	missense	259289			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.394A>G	12.37:g.11244435T>C	ENSP00000431719:p.Met132Val		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	3.576	-0.086637	0.07097	0.105372	0.17326	ENSG00000255374	ENST00000531678	T	0.00737	5.76	1.97	1.97	0.26223	.	.	.	.	.	T	0.00012	0.0000	L	0.58510	1.815	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.31364	-0.9946	8	0.35671	T	0.21	.	5.8653	0.18771	0.0:0.0:0.0:1.0	.	132	P59537	T2R43_HUMAN	V	132	ENSP00000431719:M132V	ENSP00000431719:M132V	M	-	1	0	TAS2R43	11135702	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	-0.179000	0.09768	0.902000	0.36520	0.155000	0.16302	ATG		0.363	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		C	11244435	T	C	11244435	3	2	2	1	0	0	0	0	1	0	0	0	15578	1435	50	4	539	4	TAS2R43	12	11244435	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	3047864	11244435	122607460	65	132											
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	14589046	14589046	+	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	gttttccttctcagatgaatTttctagacgaaaacgttcta	11	16	6	8	2	3	3	1	1	3	2	5	4	4	3	1	0	1	2	1	0	5	8			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:14589046T>G	ENST00000540793.1	+	3	1807	c.1652T>G	c.(1651-1653)tTt>tGt	p.F551C	ATF7IP_ENST00000543189.1_Missense_Mutation_p.F550C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.F550C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.F551C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.F559C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	551	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCAGATGAATTTTCTAGACGA	0.333																																						.											0													72	69	70					12																	14589046		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1652T>G	12.37:g.14589046T>G	ENSP00000444589:p.Phe551Cys		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041184	0.35989	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.48	1.68	0.24146	.	0.254035	0.28853	N	0.013940	T	0.30355	0.0762	L	0.51422	1.61	0.21897	N	0.999481	D;B;D;D;B;B	0.64830	0.994;0.005;0.981;0.981;0.004;0.004	P;B;P;P;B;B	0.61722	0.893;0.005;0.673;0.673;0.01;0.01	T	0.04522	-1.0945	10	0.66056	D	0.02	-10.5064	6.0815	0.19944	0.0:0.1288:0.2623:0.6089	.	559;550;550;551;550;162	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	C	551;550;550;559;551	ENSP00000261168:F551C;ENSP00000443179:F550C;ENSP00000445955:F550C;ENSP00000440440:F559C;ENSP00000444589:F551C	ENSP00000261168:F551C	F	+	2	0	ATF7IP	14480313	0.998000	0.40836	0.525000	0.27900	0.251000	0.25915	1.483000	0.35497	0.407000	0.25591	0.477000	0.44152	TTT		0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		G	14589046	T	G	14589046	3	3	2	1	0	0	0	0	1	0	0	0	1087	1841	64	5	1662	5	ATF7IP	12	14589046	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	3344611	14589046	119262849	66	133											
DDX11	1663	mdanderson.org	37	chr12	31247692	31247692	+	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	catgtgtttgttctcagggaCggagctgaagaccatcaacg	10	10	12	9	2	2	2	2	1	1	1	3	4	2	4	1	2	2	3	1	2	2	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:31247692C>T	ENST00000407793.2	+	14	1669	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.T473M|DDX11_ENST00000350437.4_Missense_Mutation_p.T473M|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.T473M|DDX11_ENST00000228264.6_Missense_Mutation_p.T447M	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	473					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)					TTCTCAGGGACGGAGCTGAAG	0.512										Multiple Myeloma(12;0.14)																												.											0													37	38	38					12																	31247692		2202	4280	6482	SO:0001583	missense	1663			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.1418C>T	12.37:g.31247692C>T	ENSP00000384703:p.Thr473Met		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158393	0.38119	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	D;T;D;T;T	0.91740	-2.9;0.54;-2.9;0.54;0.54	3.23	2.33	0.28932	.	0.502768	0.22867	N	0.054667	D	0.94062	0.8097	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.66084	0.941;0.924;0.911;0.941	D	0.91770	0.5427	9	0.44086	T	0.13	.	8.1231	0.30982	0.0:0.8744:0.0:0.1256	.	447;473;473;473	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	M	473;473;198;447;473;473	ENSP00000443426:T473M;ENSP00000384703:T473M;ENSP00000228264:T447M;ENSP00000440402:T473M;ENSP00000309965:T473M	ENSP00000228264:T447M	T	+	2	0	DDX11	31138959	0.936000	0.31750	0.959000	0.39883	0.636000	0.38137	1.961000	0.40432	0.556000	0.29098	-0.362000	0.07510	ACG		0.512	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		T	31247692	C	T	31247692	3	4	2	1	0	0	0	0	1	0	0	0	4343	536	19	1	1468	1	DDX11	12	31247692	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	16658646	31247692	102604203	67	134											
OR10A7	121364	broad.mit.edu	37	chr12	55615316	55615316	+	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	tgatggcccttcctttctgtGgaccaaatgccgtggaccac	7	11	10	13	1	1	1	0	1	1	0	2	3	2	3	5	3	1	0	5	3	1	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:55615316G>A	ENST00000326258.1	+	1	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCCTTTCTGTGGACCAAATGC	0.498																																						.											0													179	153	162					12																	55615316		2203	4300	6503	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.508G>A	12.37:g.55615316G>A	ENSP00000326718:p.Gly170Arg		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	g	15.11	2.736040	0.49045	.	.	ENSG00000179919	ENST00000326258	T	0.38560	1.13	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001068	T	0.53061	0.1773	M	0.69823	2.125	0.32695	N	0.513659	P	0.45768	0.866	P	0.50192	0.634	T	0.69558	-0.5113	10	0.59425	D	0.04	.	15.2909	0.73865	0.0:0.0:1.0:0.0	.	170	Q8NGE5	O10A7_HUMAN	R	170	ENSP00000326718:G170R	ENSP00000326718:G170R	G	+	1	0	OR10A7	53901583	1.000000	0.71417	0.943000	0.38184	0.753000	0.42808	3.279000	0.51670	2.002000	0.58637	0.637000	0.83480	GGA		0.498	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			A	55615316	G	A	55615316	3	1	2	1	0	0	0	0	1	0	0	0	10895	1349	47	4	510	4	OR10A7	12	55615316	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	24367624	55615316	78236579	68	135											
IKBIP	121457	mdanderson.org	37	chr12	99019897	99019897	+	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	0	0	0	0	0	0	0	0	0	0	tgcatctccattatttcagaCactgctttcagcatatcatc	10	15	4	12	0	4	1	3	0	1	1	6	1	4	1	1	0	3	3	1	0	2	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:99019897C>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Silent_p.V315V|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTATTTCAGACACTGCTTTCA	0.338																																						.											0													82	78	79					12																	99019897		2203	4299	6502	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8176G>T	12.37:g.99019897C>A			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	CCDS9067.1																																																																																				0.338	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		A	99019897	C	A	99019897	1	1	2	0	1	0	0	0	0	0	0	0	7609	465	17	5		5	IKBIP	12	99019897	Intron	SNP	C	TCGA-KL-8324-01A-11D-2310-10	43404581	99019897	34831998	69	136											
CCDC64	92558	broad.mit.edu	37	chr12	120510407	120510407	+	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	gctgactcagccgtctccacGgactcctccatggacgagtc	7	8	10	16	3	2	1	1	1	1	0	6	4	4	3	4	2	1	1	4	2	0	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:120510407G>A	ENST00000397558.2	+	6	1182	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	CCDC64_ENST00000257583.4_Silent_p.T43T|CCDC64_ENST00000446727.2_Intron	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	394					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)					CCGTCTCCACGGACTCCTCCA	0.572																																						.											0													62	65	64					12																	120510407		2108	4236	6344	SO:0001819	synonymous_variant	92558			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.1182G>A	12.37:g.120510407G>A			A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	CCDS41845.1																																																																																				0.572	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		A	120510407	G	A	120510407	2	1	2	1	0	0	0	0	0	0	0	1	2835	1103	39	1		1	CCDC64	12	120510407	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10	21490510	120510407	13341488	70	137											
POLR1D	51082	broad.mit.edu;mdanderson.org	37	chr13	28197257	28197257	+	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	tcagactcgaggtacccttcCagctgttgagccatttcaga	9	11	9	12	1	2	3	2	1	0	2	4	4	3	3	3	1	3	3	3	1	1	4			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr13:28197257C>T	ENST00000302979.3	+	3	1294	c.272C>T	c.(271-273)cCa>cTa	p.P91L	POLR1D_ENST00000465887.1_Intron|POLR1D_ENST00000399696.1_Missense_Mutation_p.P91L|POLR1D_ENST00000399697.3_Intron|LNX2_ENST00000316334.3_5'Flank	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	91					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		GGTACCCTTCCAGCTGTTGAG	0.443																																						.											0													104	105	104					13																	28197257		2203	4300	6503	SO:0001583	missense	51082			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"RNA polymerase subunits"	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.272C>T	13.37:g.28197257C>T	ENSP00000302478:p.Pro91Leu		Q5TBX2|Q96BR3	Missense_Mutation	SNP	ENST00000302979.3	37	CCDS9325.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757524	0.69648	.	.	ENSG00000186184	ENST00000302979;ENST00000399696	D;D	0.92495	-3.05;-3.05	5.08	5.08	0.68730	DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	.	.	.	.	D	0.95050	0.8397	M	0.76574	2.34	0.58432	D	0.999998	D	0.69078	0.997	D	0.63703	0.917	D	0.94642	0.7831	9	0.52906	T	0.07	-7.0239	14.7727	0.69691	0.0:1.0:0.0:0.0	.	91	Q9Y2S0	RPAC2_HUMAN	L	91	ENSP00000302478:P91L;ENSP00000382603:P91L	ENSP00000302478:P91L	P	+	2	0	POLR1D	27095257	0.990000	0.36364	1.000000	0.80357	0.981000	0.71138	1.158000	0.31737	2.767000	0.95098	0.650000	0.86243	CCA		0.443	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044305.1	NM_015972, NM_152705		T	28197257	C	T	28197257	3	4	2	1	0	0	0	0	1	0	0	0	12212	594	21	4	278	4	POLR1D	13	28197257	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10		28197257	86972621	71	138											
NEK5	341676	broad.mit.edu	37	chr13	52686431	52686431	+	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	tcactaaataacacaccccgTtgtctattgatccttttcat	11	15	3	12	1	3	1	2	1	1	0	4	1	4	1	3	0	1	1	3	0	4	7			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr13:52686431T>C	ENST00000355568.4	-	5	424	c.285A>G	c.(283-285)caA>caG	p.Q95Q		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACACACCCCGTTGTCTATTGA	0.348																																						.											0													132	121	125					13																	52686431		2203	4300	6503	SO:0001819	synonymous_variant	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.285A>G	13.37:g.52686431T>C			Q5TAP5	Silent	SNP	ENST00000355568.4	37	CCDS31979.1																																																																																				0.348	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		C	52686431	T	C	52686431	2	2	2	1	0	0	0	0	0	0	0	1	10327	1722	60	2		2	NEK5	13	52686431	Silent	SNP	T	TCGA-KL-8324-01A-11D-2310-10	24489174	52686431	62483447	72	139											
GNPNAT1	64841	broad.mit.edu	37	chr14	53250171	53250172	+	Frame_Shift_Del	DEL	TC	TC	-																															ttcagggctgacaactccagTctctgttagctgacccaata																										TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:53250171_53250172delTC	ENST00000216410.3	-	3	373_374	c.186_187delGA	c.(184-189)gagactfs	p.ET62fs	RN7SL588P_ENST00000583393.1_RNA|GNPNAT1_ENST00000554230.1_5'UTR	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	62	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					ACAACTCCAGTCTCTGTTAGCT	0.327																																						.											0																																										SO:0001589	frameshift_variant	64841			AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.186_187delGA	14.37:g.53250173_53250174delTC	ENSP00000216410:p.Glu62fs			Frame_Shift_Del	DEL	ENST00000216410.3	37	CCDS9712.1																																																																																				0.327	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			-	53250172	TC	-	53250171	7	5	2	1	0	1	0	1	0	0	0	0	6544	1667	58	0	383	0	GNPNAT1	14	53250171	Frame_Shift_Del	DEL	TC	TCGA-KL-8324-01A-11D-2310-10		53250171	54099369	73	140											
AHSA1	10598	broad.mit.edu	37	chr14	77926107	77926111	+	Frame_Shift_Del	DEL	CTTAT	CTTAT	-																															ttaacaatcgcaaagggaaaCttatcttcttttatgaatgg																										TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	CTTAT	CTTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:77926107_77926111delCTTAT	ENST00000216479.3	+	2	389_393	c.229_233delCTTAT	c.(229-234)cttatcfs	p.LI77fs	AHSA1_ENST00000555457.1_3'UTR|VIPAS39_ENST00000448935.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|AHSA1_ENST00000555517.1_Frame_Shift_Del_p.LI77fs|VIPAS39_ENST00000553888.1_5'Flank|AHSA1_ENST00000535854.2_Frame_Shift_Del_p.LI77fs|VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000557658.1_5'Flank|VIPAS39_ENST00000556909.1_5'Flank|VIPAS39_ENST00000327028.4_5'Flank	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	77					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGGGAAACTTATCTTCTTTTAT	0.429																																						.											0																																										SO:0001589	frameshift_variant	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.229_233delCTTAT	14.37:g.77926107_77926111delCTTAT	ENSP00000216479:p.Leu77fs		B2R9L2|B4DUR9|Q96IL6|Q9P060	Frame_Shift_Del	DEL	ENST00000216479.3	37	CCDS9863.1																																																																																				0.429	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		-	77926111	CTTAT	-	77926107	7	5	2	1	0	1	0	1	0	0	0	0	418	565	20	0	235	0	AHSA1	14	77926107	Frame_Shift_Del	DEL	CTTAT	TCGA-KL-8324-01A-11D-2310-10	24675936	77926107	29423433	74	141	2	2									
AHSA1	10598	bcgsc.ca	37	chr14	77926108	77926112	+	Frame_Shift_Del	DEL	CTTAT	CTTAT	-																															taacaatcgcaaagggaaacTtatcttcttttatgaatgga																										TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	CTTAT	CTTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:77926108_77926112delCTTAT	ENST00000216479.3	+	2	390_394	c.230_234delCTTAT	c.(229-234)ccttatfs	p.PY77fs	AHSA1_ENST00000555457.1_3'UTR|VIPAS39_ENST00000448935.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|AHSA1_ENST00000555517.1_Frame_Shift_Del_p.PY77fs|VIPAS39_ENST00000553888.1_5'Flank|AHSA1_ENST00000535854.2_Frame_Shift_Del_p.PY77fs|VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000557658.1_5'Flank|VIPAS39_ENST00000556909.1_5'Flank|VIPAS39_ENST00000327028.4_5'Flank	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	77					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAAGGGAAACTTATCTTCTTTTATG	0.429																																						.											0																																										SO:0001589	frameshift_variant	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.230_234delCTTAT	14.37:g.77926108_77926112delCTTAT	ENSP00000216479:p.Pro77fs		B2R9L2|B4DUR9|Q96IL6|Q9P060	Frame_Shift_Del	DEL	ENST00000216479.3	37	CCDS9863.1																																																																																				0.429	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		-	77926112	CTTAT	-	77926108	7	5	2	1	0	1	0	1	0	0	0	0	418	1609	56	0	236	0	AHSA1	14	77926108	Frame_Shift_Del	DEL	CTTAT	TCGA-KL-8324-01A-11D-2310-10	1	77926108	29423432	75	142	2	2									
OTUD7A	161725	broad.mit.edu	37	chr15	31779681	31779681	+	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	agccgggcgttatcgttgtcGtctttcccccactcccagtc	4	12	9	16	4	1	0	0	0	1	0	6	0	3	0	4	1	1	2	4	1	1	3	rs200079505		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:31779681G>A	ENST00000307050.4	-	9	1331	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	OTUD7A_ENST00000382902.1_Silent_p.D420D	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	413	Catalytic. {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)		TATCGTTGTCGTCTTTCCCCC	0.612																																						.											0													109	92	98					15																	31779681		2202	4299	6501	SO:0001819	synonymous_variant	161725			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.1239C>T	15.37:g.31779681G>A			Q8IWK5	Silent	SNP	ENST00000307050.4	37	CCDS10026.1																																																																																				0.612	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		A	31779681	G	A	31779681	2	1	2	1	0	0	0	0	0	0	0	1	11318	1136	40	1		1	OTUD7A	15	31779681	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10		31779681	70751711	76	143											
FAM98B	283742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	38773557	38773557	+	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	tgctttgtcacccaagacaaCgattacaatggcacatctac	13	10	6	12	1	2	1	1	0	1	1	2	2	2	1	1	1	4	2	1	1	5	3			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:38773557C>T	ENST00000491535.1	+	7	802	c.794C>T	c.(793-795)aCg>aTg	p.T265M	FAM98B_ENST00000397609.2_Missense_Mutation_p.T265M	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	265						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)		CCCAAGACAACGATTACAATG	0.408																																						.											0													103	91	95					15																	38773557		2200	4297	6497	SO:0001583	missense	283742				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.794C>T	15.37:g.38773557C>T	ENSP00000453166:p.Thr265Met		A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126754	0.37533	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.45668	0.89	4.85	4.85	0.62838	.	0.204155	0.50627	D	0.000111	T	0.58892	0.2154	L	0.45581	1.43	0.47407	D	0.999411	D;P	0.89917	1.0;0.949	D;B	0.75484	0.986;0.387	T	0.56878	-0.7906	10	0.45353	T	0.12	-24.3977	18.5212	0.90952	0.0:1.0:0.0:0.0	.	265;265	A8MUW5;Q52LJ0	.;FA98B_HUMAN	M	265	ENSP00000380734:T265M	ENSP00000303412:T265M	T	+	2	0	FAM98B	36560849	0.172000	0.23043	0.931000	0.37212	0.092000	0.18411	0.935000	0.28924	2.675000	0.91044	0.467000	0.42956	ACG		0.408	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		T	38773557	C	T	38773557	3	4	2	1	0	0	0	0	1	0	0	0	5657	536	19	1	820	1	FAM98B	15	38773557	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	6993876	38773557	63757835	77	144											
CASC5	57082	broad.mit.edu	37	chr15	40943724	40943724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttgctcaaatagactttAtgcaaaaacaaagaaataga	19	9	5	8	0	1	3	1	0	0	3	1	3	1	3	1	0	3	2	1	0	8	5			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:40943724A>G	ENST00000346991.5	+	21	6736	c.6346A>G	c.(6346-6348)Atg>Gtg	p.M2116V	CASC5_ENST00000399668.2_Missense_Mutation_p.M2090V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2116	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)		AATAGACTTTATGCAAAAACA	0.363																																						.											0													85	78	80					15																	40943724		1829	4095	5924	SO:0001583	missense	57082			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.6346A>G	15.37:g.40943724A>G	ENSP00000335463:p.Met2116Val		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	9.506	1.104450	0.20632	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.04502	3.61;3.61	5.05	-2.59	0.06209	.	1.055760	0.07421	N	0.893975	T	0.01222	0.0040	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47787	-0.9090	10	0.08381	T	0.77	.	1.2805	0.02040	0.41:0.2947:0.1485:0.1468	.	2090;2116	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	V	2116;2090	ENSP00000335463:M2116V;ENSP00000382576:M2090V	ENSP00000335463:M2116V	M	+	1	0	CASC5	38731016	0.000000	0.05858	0.118000	0.21660	0.947000	0.59692	0.346000	0.19997	-0.082000	0.12640	-0.313000	0.08912	ATG		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40943724	A	G	40943724	3	3	2	1	0	0	0	0	1	0	0	0	2663	449	16	4	6424	4	CASC5	15	40943724	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	2170167	40943724	61587668	78	145											
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr15	86808005	86808005	+	Missense_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	agatgatggcatttcctgatGtctggggacactgtccccct	7	12	11	11	0	1	3	0	2	1	1	3	4	3	4	3	3	0	1	3	3	0	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:86808005G>A	ENST00000441037.2	+	10	1560	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	AGBL1_ENST00000389298.3_Missense_Mutation_p.V220I|AGBL1_ENST00000421325.2_Missense_Mutation_p.V489I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	489					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATTTCCTGATGTCTGGGGACA	0.502																																						.											0													100	98	98					15																	86808005		1943	4140	6083	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1465G>A	15.37:g.86808005G>A	ENSP00000413001:p.Val489Ile		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422678	0.43020	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.27557	1.66;1.66	5.96	-7.53	0.01336	Armadillo-type fold (1);	0.396899	0.26875	N	0.022048	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.0	B;B;B	0.14023	0.007;0.01;0.001	T	0.05818	-1.0862	10	0.37606	T	0.19	-3.0574	3.7427	0.08536	0.0996:0.1294:0.4062:0.3648	.	188;220;489	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	I	518;489;220	ENSP00000397173:V489I;ENSP00000373949:V220I	ENSP00000373949:V220I	V	+	1	0	AGBL1	84609009	0.706000	0.27856	0.070000	0.20053	0.901000	0.52897	0.294000	0.19047	-0.795000	0.04462	-1.181000	0.01715	GTC		0.502	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86808005	G	A	86808005	3	1	2	1	0	0	0	0	1	0	0	0	375	1377	48	4	1499	4	AGBL1	15	86808005	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	45864281	86808005	15723387	79	146											
DCTPP1	79077	broad.mit.edu	37	chr16	30435593	30435593	+	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	gtggagtcacagggaatgtcCgcaggccccacagcctggtc	8	6	14	13	1	1	0	1	0	0	0	3	2	2	2	4	4	1	1	4	4	1	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:30435593C>T	ENST00000319285.4	-	3	568	c.474G>A	c.(472-474)gcG>gcA	p.A158A	ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000567983.1_Silent_p.A59A|DCTPP1_ENST00000568434.1_Silent_p.A37A|DCTPP1_ENST00000568973.1_Silent_p.A37A|DCTPP1_ENST00000565758.1_Silent_p.A37A	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	158					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						AGGGAATGTCCGCAGGCCCCA	0.607																																						.											0													41	38	39					16																	30435593		2197	4300	6497	SO:0001819	synonymous_variant	79077			BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"XTP3-transactivated protein A"	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.474G>A	16.37:g.30435593C>T				Silent	SNP	ENST00000319285.4	37	CCDS10680.1																																																																																				0.607	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096		T	30435593	C	T	30435593	2	4	2	1	0	0	0	0	0	0	0	1	4312	639	23	1		1	DCTPP1	16	30435593	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10		30435593	59919160	80	147											
ITGAM	3684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	31283282	31283282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgcagctgcttgggcggAcacacacggccacgggcatc	9	5	13	14	4	0	0	0	0	0	0	1	1	0	1	1	4	3	4	1	4	1	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:31283282A>G	ENST00000287497.8	+	7	748	c.673A>G	c.(673-675)Aca>Gca	p.T225A	ITGAM_ENST00000544665.3_Missense_Mutation_p.T225A			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	225	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						GCTTGGGCGGACACACACGGC	0.507																																						.											0													94	92	92					16																	31283282		1990	4204	6194	SO:0001583	missense	3684			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.673A>G	16.37:g.31283282A>G	ENSP00000287497:p.Thr225Ala		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859430	0.71834	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.89123	-2.47;-2.47	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	D	0.95392	0.8504	M	0.91038	3.17	0.32039	N	0.598499	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96123	0.9086	9	0.87932	D	0	.	13.4224	0.61005	1.0:0.0:0.0:0.0	.	225;225	Q4VAK1;P11215	.;ITAM_HUMAN	A	225	ENSP00000441691:T225A;ENSP00000287497:T225A	ENSP00000287497:T225A	T	+	1	0	ITGAM	31190783	0.993000	0.37304	0.134000	0.22075	0.006000	0.05464	5.684000	0.68197	2.226000	0.72624	0.459000	0.35465	ACA		0.507	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		G	31283282	A	G	31283282	3	3	2	1	0	0	0	0	1	0	0	0	7887	275	10	2	699	2	ITGAM	16	31283282	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	847689	31283282	59071471	81	148											
ANKRD11	29123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	89349348	89349348	+	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	tctccttgtgcttttcaaagActttctcttttttgtctctc	4	22	4	11	0	4	1	1	0	3	1	8	1	4	1	1	0	1	1	1	0	1	7			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:89349348A>T	ENST00000301030.4	-	9	4062	c.3602T>A	c.(3601-3603)gTc>gAc	p.V1201D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V1201D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1201	Lys-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)		CTTTTCAAAGACTTTCTCTTT	0.502																																						.											0													86	97	93					16																	89349348		2198	4300	6498	SO:0001583	missense	29123			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.3602T>A	16.37:g.89349348A>T	ENSP00000301030:p.Val1201Asp		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	0.526	-0.860029	0.02610	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	4.85	-9.7	0.00521	.	1.943490	0.02494	N	0.089786	T	0.20129	0.0484	L	0.29908	0.895	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.06285	-1.0835	10	0.18276	T	0.48	.	6.167	0.20396	0.1154:0.1856:0.5219:0.1771	.	1201	Q6UB99	ANR11_HUMAN	D	1201	ENSP00000301030:V1201D;ENSP00000367581:V1201D	ENSP00000301030:V1201D	V	-	2	0	ANKRD11	87876849	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.493000	0.06459	-1.869000	0.01141	-0.379000	0.06801	GTC		0.502	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89349348	A	T	89349348	3	4	2	1	0	0	0	0	1	0	0	0	639	275	10	5	4409	5	ANKRD11	16	89349348	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	58066066	89349348	1005405	82	149											
ZZEF1	23140	ucsc.edu;bcgsc.ca	37	chr17	3981271	3981271	+	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	agcaggctgccttggacggaCcagaacagggagaagagcac	13	3	15	10	1	0	3	0	0	0	3	0	6	0	5	2	4	4	3	2	4	2	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:3981271C>T	ENST00000381638.2	-	19	3019	c.2895G>A	c.(2893-2895)tgG>tgA	p.W965*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	965							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						CTTGGACGGACCAGAACAGGG	0.547																																						.											0													81	74	77					17																	3981271		2203	4300	6503	SO:0001587	stop_gained	23140			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.2895G>A	17.37:g.3981271C>T	ENSP00000371051:p.Trp965*		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	41	9.003988	0.99033	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.98	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0904	15.0566	0.71917	0.0:0.9322:0.0:0.0678	.	.	.	.	X	965	.	ENSP00000371051:W965X	W	-	3	0	ZZEF1	3928020	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.276000	0.78559	1.537000	0.49254	0.591000	0.81541	TGG		0.547	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		T	3981271	C	T	3981271	4	4	2	1	0	0	0	0	0	1	0	0	18252	508	18	3	6138	3	ZZEF1	17	3981271	Nonsense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10		3981271	77213939	83	150											
POLR2A	5430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7400726	7400726	+	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	tgaagatcaacaatcagctgCggcgcaatgagcagaacggc	14	5	12	10	3	2	4	2	2	0	2	2	4	2	4	0	2	5	3	0	2	5	0	rs201628232		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7400726C>T	ENST00000322644.6	+	6	1270	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	POLR2A_ENST00000572844.1_Missense_Mutation_p.R291W	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	291					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)				CAATCAGCTGCGGCGCAATGA	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		20780	0		0	False		,,,				2504	0					.											0													80	72	75					17																	7400726		2203	4300	6503	SO:0001583	missense	5430					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.871C>T	17.37:g.7400726C>T	ENSP00000314949:p.Arg291Trp		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	19.45	3.830630	0.71258	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.27402	1.67	5.55	4.56	0.56223	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.063343	0.64402	D	0.000010	T	0.64886	0.2639	H	0.95982	3.75	0.47584	D	0.999464	D;D	0.76494	0.998;0.999	D;P	0.64877	0.93;0.783	T	0.75703	-0.3225	10	0.66056	D	0.02	-8.6605	12.3677	0.55238	0.3066:0.6934:0.0:0.0	.	291;291	P24928;Q6NX41	RPB1_HUMAN;.	W	247;291	ENSP00000314949:R291W	ENSP00000314949:R291W	R	+	1	2	SLC35G6	7341450	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.127000	0.42035	1.297000	0.44761	0.557000	0.71058	CGG		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		T	7400726	C	T	7400726	3	4	2	1	0	0	0	0	1	0	0	0	12214	759	27	1	893	1	POLR2A	17	7400726	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	3419455	7400726	73794484	84	151											
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	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	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	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;	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	2	1	0	0	0	0	1	0	0	0	16378	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	177464	7578190	73617020	85	152											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7578280	7578280	+	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	ctcggataagatgctgaggaGgggccagacctaagagcaat	13	6	14	8	1	0	4	0	1	0	3	1	6	0	6	2	4	2	2	2	4	3	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7578280G>A	ENST00000269305.4	-	6	758	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000455263.2_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.P190L	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	190	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)	ATGCTGAGGAGGGGCCAGACC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	67	Substitution - Missense(27)|Deletion - In frame(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(6)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	large_intestine(11)|upper_aerodigestive_tract(9)|skin(8)|haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|bone(5)|central_nervous_system(4)|oesophagus(4)|stomach(2)|liver(2)|ovary(2)|kidney(1)|salivary_gland(1)|prostate(1)											89	80	83					17																	7578280		2203	4300	6503	SO:0001583	missense	7157	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;	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.569C>T	17.37:g.7578280G>A	ENSP00000269305:p.Pro190Leu		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	14.21	2.468425	0.43839	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110931	0.64402	D	0.000010	D	0.99622	0.9862	M	0.68593	2.085	0.80722	D	1	D;P;D;P;P;P;D	0.89917	0.987;0.484;0.972;0.765;0.676;0.921;1.0	D;B;P;P;P;P;D	0.91635	0.916;0.306;0.708;0.605;0.533;0.774;0.999	D	0.97802	1.0245	10	0.87932	D	0	-9.8058	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	151;190;190;97;190;190;190	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	190;190;190;190;190;190;179;97;58;97;58	ENSP00000410739:P190L;ENSP00000352610:P190L;ENSP00000269305:P190L;ENSP00000398846:P190L;ENSP00000391127:P190L;ENSP00000391478:P190L;ENSP00000425104:P58L;ENSP00000423862:P97L	ENSP00000269305:P190L	P	-	2	0	TP53	7519005	1.000000	0.71417	0.956000	0.39512	0.034000	0.12701	7.957000	0.87870	1.422000	0.47177	0.655000	0.94253	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578280	G	A	7578280	3	1	2	1	0	0	0	0	1	0	0	0	16378	1000	35	4	725	4	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	90	7578280	73616930	86	153											
KRTAP1-1	81851	mdanderson.org	37	chr17	39197485	39197485	+	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	gttgagaagctaggaaatccAcagaagctggtctggcagca	13	7	13	8	0	1	2	0	1	1	2	2	4	2	3	1	3	3	5	1	3	4	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:39197485A>G	ENST00000306271.4	-	1	228	c.165T>C	c.(163-165)tgT>tgC	p.C55C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	55			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TAGGAAATCCACAGAAGCTGG	0.602																																						.											0													83	92	89					17																	39197485		2026	4210	6236	SO:0001819	synonymous_variant	81851			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.165T>C	17.37:g.39197485A>G			A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																				0.602	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		G	39197485	A	G	39197485	2	3	2	1	0	0	0	0	0	0	0	1	8502	157	6	2		2	KRTAP1-1	17	39197485	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	31619205	39197485	41997725	87	154											
CDC27	996	hgsc.bcm.edu	37	chr17	45232055	45232055	+	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	taccttttttgaaggggctcCggtggatggcacatcaatta	9	13	11	8	1	1	1	1	1	0	0	2	2	2	2	2	5	1	2	2	5	4	5	rs200268612		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:45232055C>T	ENST00000066544.3	-	8	1033	c.940G>A	c.(940-942)Gga>Aga	p.G314R	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000527547.1_Missense_Mutation_p.G314R|CDC27_ENST00000446365.2_Missense_Mutation_p.G253R|CDC27_ENST00000531206.1_Missense_Mutation_p.G314R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	314					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						GAAGGGGCTCCGGTGGATGGC	0.373																																						.											0													42	42	42					17																	45232055		2203	4300	6503	SO:0001583	missense	996			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.940G>A	17.37:g.45232055C>T	ENSP00000066544:p.Gly314Arg		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887899	0.33348	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66638	-0.2;-0.22;0.08;-0.2;0.98	5.92	5.92	0.95590	.	0.186621	0.46442	D	0.000293	T	0.42245	0.1194	N	0.02539	-0.55	0.52501	D	0.999951	B;B;B;B	0.14012	0.009;0.001;0.002;0.0	B;B;B;B	0.08055	0.003;0.002;0.002;0.001	T	0.41305	-0.9516	10	0.13853	T	0.58	-4.7594	17.8238	0.88658	0.0:1.0:0.0:0.0	.	253;314;314;314	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	R	314;314;253;314;314	ENSP00000066544:G314R;ENSP00000434614:G314R;ENSP00000392802:G253R;ENSP00000437339:G314R;ENSP00000432105:G314R	ENSP00000066544:G314R	G	-	1	0	CDC27	42587054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.650000	0.67944	2.810000	0.96702	0.585000	0.79938	GGA		0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45232055	C	T	45232055	3	4	2	1	0	0	0	0	1	0	0	0	3066	661	23	1	1600	1	CDC27	17	45232055	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	6034570	45232055	35963155	88	155											
PTRH2	51651	broad.mit.edu;mdanderson.org	37	chr17	57775085	57775085	+	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	gaaacagcagcatgagagcaCtgggcagccactttcccttt	11	8	10	12	0	0	1	0	1	0	1	1	3	1	1	2	1	5	4	2	1	1	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:57775085C>T	ENST00000470557.2	-	1	3701	c.255G>A	c.(253-255)caG>caA	p.Q85Q	PTRH2_ENST00000393038.2_Silent_p.Q85Q|PTRH2_ENST00000579915.1_5'Flank|PTRH2_ENST00000537860.1_Silent_p.Q85Q|PTRH2_ENST00000409433.2_Silent_p.Q86Q			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	85					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATGAGAGCACTGGGCAGCCA	0.473																																						.											0													170	153	159					17																	57775085		2203	4300	6503	SO:0001819	synonymous_variant	51651			AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"Bcl-2 inhibitor of transcription", "cilia and flagella associated protein 37"	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.255G>A	17.37:g.57775085C>T			B3KUY4|Q9NTE5	Silent	SNP	ENST00000470557.2	37	CCDS11618.1																																																																																				0.473	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077		T	57775085	C	T	57775085	2	4	2	1	0	0	0	0	0	0	0	1	12817	564	20	4		4	PTRH2	17	57775085	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	12543030	57775085	23420125	89	156											
DNAI2	64446	broad.mit.edu	37	chr17	72306262	72306262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggtctcgcctgggcTctctaccctccagaggaatg	6	9	13	13	1	2	1	0	0	2	1	5	3	3	3	3	4	1	2	3	4	2	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:72306262T>C	ENST00000311014.6	+	11	1521	c.1454T>C	c.(1453-1455)cTc>cCc	p.L485P	DNAI2_ENST00000307504.5_Missense_Mutation_p.L342P|DNAI2_ENST00000579490.1_Missense_Mutation_p.L542P|AC103809.1_ENST00000516976.1_RNA|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.L473P|DNAI2_ENST00000446837.2_Missense_Mutation_p.L485P			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	485					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCGCCTGGGCTCTCTACCCTC	0.642									Kartagener syndrome																													.											0													48	44	45					17																	72306262		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1454T>C	17.37:g.72306262T>C	ENSP00000308312:p.Leu485Pro		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021966	0.54576	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.38240	1.15;1.15;1.15	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.78526	-0.2170	10	0.87932	D	0	-37.7517	14.8647	0.70406	0.0:0.0:0.0:1.0	.	485	Q9GZS0	DNAI2_HUMAN	P	485;342;485	ENSP00000308312:L485P;ENSP00000302929:L342P;ENSP00000400252:L485P	ENSP00000302929:L342P	L	+	2	0	DNAI2	69817857	1.000000	0.71417	0.993000	0.49108	0.059000	0.15707	7.728000	0.84847	1.985000	0.57927	0.374000	0.22700	CTC		0.642	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		C	72306262	T	C	72306262	3	2	2	1	0	0	0	0	1	0	0	0	4610	1551	54	2	1492	2	DNAI2	17	72306262	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	14531177	72306262	8888948	90	157											
PIAS2	9063	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr18	44409771	44409771	+	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	tcattggacaccaagaaccaTcttcttggaatttgatctca	12	13	6	10	0	4	2	2	1	3	1	5	4	4	4	2	2	1	0	2	2	3	4	rs201382502		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr18:44409771T>A	ENST00000585916.1	-	10	1261	c.1262A>T	c.(1261-1263)gAt>gTt	p.D421V	PIAS2_ENST00000545673.1_Missense_Mutation_p.D131V|PIAS2_ENST00000324794.7_Missense_Mutation_p.D421V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	421					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGAACCATCTTCTTGGAA	0.363																																						.											0													186	188	187					18																	44409771		2203	4300	6503	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1262A>T	18.37:g.44409771T>A	ENSP00000465676:p.Asp421Val		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628276	0.87560	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.60548	0.18;0.71	5.67	5.67	0.87782	.	0.044689	0.85682	D	0.000000	T	0.78317	0.4264	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	0.87578	0.996;0.996;0.998;0.998	T	0.81961	-0.0693	10	0.87932	D	0	-12.8912	15.9171	0.79527	0.0:0.0:0.0:1.0	.	131;421;421;421	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	V	421;421;131;421	ENSP00000443238:D131V;ENSP00000317163:D421V	ENSP00000262161:D421V	D	-	2	0	PIAS2	42663769	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.040000	0.89188	2.152000	0.67230	0.455000	0.32223	GAT		0.363	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		A	44409771	T	A	44409771	3	1	2	1	0	0	0	0	1	0	0	0	11876	1435	50	5	698	5	PIAS2	18	44409771	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		44409771	33667477	91	158											
MUC16	94025	mdanderson.org	37	chr19	8999462	8999462	+	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	atgctgtgggtcagctggctCagctcccagtatagctgctc	6	11	12	12	0	2	0	2	0	0	0	4	0	3	0	1	2	5	7	1	2	2	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:8999462C>T	ENST00000397910.4	-	56	40916	c.40713G>A	c.(40711-40713)ctG>ctA	p.L13571L	MUC16_ENST00000380951.5_Silent_p.L212L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13573	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGCTGGCTCAGCTCCCAGT	0.567																																						.											0													203	172	182					19																	8999462		2050	4202	6252	SO:0001819	synonymous_variant	94025			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.40713G>A	19.37:g.8999462C>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8999462	C	T	8999462	2	4	2	1	0	0	0	0	0	0	0	1	9973	813	29	4		4	MUC16	19	8999462	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10		8999462	50129521	92	159											
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	36340211	36340211	+	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	gctccaagctctgtcctgccCgcacgtgcccctcatccagg	5	8	9	19	2	2	0	1	0	1	0	5	0	5	0	6	1	3	3	6	1	1	0	rs149649169		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:36340211C>T	ENST00000378910.5	-	7	766	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.R256Q|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	256	Ig-like C2-type 3.		R -> W (in NPHS1). {ECO:0000269|PubMed:18503012}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCCTGCCCGCACGTGCCC	0.642																																						.											0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	26	25	26		767	1.6	0.6	19	dbSNP_134	26	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPHS1	NM_004646.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	256/1242	36340211	2,13004	2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.767G>A	19.37:g.36340211C>T	ENSP00000368190:p.Arg256Gln		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549572	0.45383	2.27E-4	1.16E-4	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.85861	-2.04;-2.04	5.0	1.6	0.23607	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.264240	0.34002	N	0.004352	T	0.78786	0.4338	N	0.25485	0.75	0.09310	N	1	D	0.60575	0.988	P	0.51487	0.671	T	0.69533	-0.5120	10	0.59425	D	0.04	-20.3966	5.9921	0.19472	0.0:0.6721:0.0:0.3279	.	256	O60500	NPHN_HUMAN	Q	256	ENSP00000368190:R256Q;ENSP00000343634:R256Q	ENSP00000343634:R256Q	R	-	2	0	NPHS1	41032051	0.016000	0.18221	0.607000	0.28956	0.210000	0.24377	0.809000	0.27168	0.720000	0.32209	-0.191000	0.12829	CGG		0.642	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			T	36340211	C	T	36340211	3	4	2	1	0	0	0	0	1	0	0	0	10582	652	23	1	3050	1	NPHS1	19	36340211	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	27340749	36340211	22788772	93	160											
NUCB1	4924	bcgsc.ca	37	chr19	49416771	49416771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgtgggaggagctggAtggactggaccccaacaggt	9	6	19	7	0	0	0	0	0	0	0	0	6	0	6	2	8	2	1	2	8	1	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:49416771A>G	ENST00000405315.4	+	7	1041	c.707A>G	c.(706-708)gAt>gGt	p.D236G	NUCB1_ENST00000407032.1_Missense_Mutation_p.D236G|NUCB1_ENST00000263273.5_Missense_Mutation_p.D236G|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	236	Binds to GNAI2 and GNAI3. {ECO:0000250}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		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;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGGAGCTGGATGGACTGGAC	0.557																																						.											0													113	91	99					19																	49416771		2203	4300	6503	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.707A>G	19.37:g.49416771A>G	ENSP00000385923:p.Asp236Gly		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.422159|4.422159	0.83559|0.83559	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000263273|ENST00000424608	D;D;D|.	0.83914|.	-1.78;-1.78;-1.78|.	4.81|4.81	4.81|4.81	0.61882|0.61882	EF-hand-like domain (1);|.	0.044689|.	0.85682|.	D|.	0.000000|.	T|T	0.79215|0.79215	0.4408|0.4408	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.992|.	P;P|.	0.62382|.	0.901;0.901|.	T|T	0.82892|0.82892	-0.0232|-0.0232	10|5	0.87932|.	D|.	0|.	.|.	13.0021|13.0021	0.58681|0.58681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	236;236|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	G|V	236|206	ENSP00000385923:D236G;ENSP00000385211:D236G;ENSP00000263273:D236G|.	ENSP00000263273:D236G|.	D|M	+|+	2|1	0|0	NUCB1|NUCB1	54108583|54108583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.805000|8.805000	0.91925|0.91925	2.124000|2.124000	0.65301|0.65301	0.444000|0.444000	0.29173|0.29173	GAT|ATG		0.557	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		G	49416771	A	G	49416771	3	3	2	1	0	0	0	0	1	0	0	0	10718	333	12	4	729	4	NUCB1	19	49416771	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	13076560	49416771	9712212	94	161											
RCN3	57333	broad.mit.edu	37	chr19	50031830	50031830	+	Frame_Shift_Del	DEL	T	T	-																															ccctcatggccaggggagggTgcaccaggcggcccccctga																										TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:50031830delT	ENST00000270645.3	+	2	548	c.101delT	c.(100-102)gtgfs	p.V34fs	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	34						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)		CAGGGGAGGGTGCACCAGGCG	0.642																																						.											0													71	76	74					19																	50031830		2203	4300	6503	SO:0001589	frameshift_variant	57333			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.101delT	19.37:g.50031830delT	ENSP00000270645:p.Val34fs		Q9HBZ8	Frame_Shift_Del	DEL	ENST00000270645.3	37	CCDS12771.1																																																																																				0.642	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		-	50031830	T	-	50031830	7	5	2	1	0	1	0	1	0	0	0	0	13181	1696	59	0	103	0	RCN3	19	50031830	Frame_Shift_Del	DEL	T	TCGA-KL-8324-01A-11D-2310-10	615059	50031830	9097153	95	162											
PRKCG	5582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	54394940	54394940	+	Missense_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	ccgtttagttggcgaggcccGtaacctaattcctatggacc	8	11	10	12	3	0	0	0	0	0	0	1	2	1	1	5	3	1	3	5	3	4	7			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:54394940G>A	ENST00000263431.3	+	6	824	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PRKCG_ENST00000540413.1_Missense_Mutation_p.R181H|PRKCG_ENST00000542049.1_Missense_Mutation_p.R68H|PRKCG_ENST00000536044.1_Missense_Mutation_p.R181H	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	181	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCGAGGCCCGTAACCTAATT	0.542																																						.											0													135	129	131					19																	54394940		2203	4300	6503	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.542G>A	19.37:g.54394940G>A	ENSP00000263431:p.Arg181His		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811604	0.70797	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.34	4.3	0.51218	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.73024	0.3534	L	0.46885	1.475	0.49915	D	0.99983	D;P;B;P;P	0.69078	0.997;0.47;0.433;0.526;0.563	P;B;B;B;B	0.55055	0.767;0.027;0.056;0.046;0.101	T	0.73471	-0.3972	9	0.45353	T	0.12	.	12.3369	0.55073	0.083:0.0:0.917:0.0	.	68;181;181;181;181	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	H	181;181;181;68	ENSP00000440541:R181H;ENSP00000443493:R181H;ENSP00000263431:R181H;ENSP00000438090:R68H	ENSP00000263431:R181H	R	+	2	0	PRKCG	59086752	0.750000	0.28316	0.870000	0.34147	0.647000	0.38526	3.353000	0.52247	1.399000	0.46721	0.561000	0.74099	CGT		0.542	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		A	54394940	G	A	54394940	3	1	2	1	0	0	0	0	1	0	0	0	12512	1145	40	1	564	1	PRKCG	19	54394940	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	4363110	54394940	4734043	96	163											
LILRA4	23547	broad.mit.edu	37	chr19	54848817	54848817	+	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	agagcccagcctggggctgcCggccagggcgctgggggagg	5	3	21	12	2	0	1	0	0	0	1	0	2	0	2	4	7	3	2	4	7	0	0	rs368679017		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:54848817C>T	ENST00000291759.4	-	5	862	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	269	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGGGGCTGCCGGCCAGGGCG	0.652													C|||	1	0.000199681	0	0.0014	5008	,	,		13012	0		0	False		,,,				2504	0					.											0								C	GLN/ARG	0,4404		0,0,2202	21	24	23		806	-4.7	0	19		23	1,8595		0,1,4297	no	missense	LILRA4	NM_012276.3	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	269/500	54848817	1,12999	2202	4298	6500	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.806G>A	19.37:g.54848817C>T	ENSP00000291759:p.Arg269Gln		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.028146	0.00410	0.0	1.16E-4	ENSG00000239961	ENST00000291759	T	0.11385	2.78	2.35	-4.7	0.03288	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.635280	0.00754	N	0.001089	T	0.03827	0.0108	N	0.04132	-0.27	0.09310	N	1	B	0.18166	0.026	B	0.09377	0.004	T	0.34900	-0.9810	10	0.02654	T	1	.	5.1701	0.15105	0.304:0.4924:0.0:0.2036	.	269	P59901	LIRA4_HUMAN	Q	269	ENSP00000291759:R269Q	ENSP00000291759:R269Q	R	-	2	0	LILRA4	59540629	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	0.647000	0.24812	-2.662000	0.00418	-1.532000	0.00920	CGG		0.652	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54848817	C	T	54848817	3	4	2	1	0	0	0	0	1	0	0	0	8787	652	23	1	709	1	LILRA4	19	54848817	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	453877	54848817	4280166	97	164											
NLRP8	126205	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	56466067	56466067	+	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	tacagggagctcctgggatcGgaaaaacaatcctggccaaa	14	6	11	10	1	0	0	0	0	0	0	3	3	2	3	3	4	3	1	3	4	5	1	rs372844411		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:56466067G>A	ENST00000291971.3	+	3	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	215	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTGGGATCGGAAAAACAAT	0.527																																						.											0								G	ARG/GLY	0,4406		0,0,2203	86	70	75		643	0.9	0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP8	NM_176811.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/1049	56466067	1,13005	2203	4300	6503	SO:0001583	missense	126205			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.643G>A	19.37:g.56466067G>A	ENSP00000291971:p.Gly215Arg		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275207	0.40194	0.0	1.16E-4	ENSG00000179709	ENST00000291971	D	0.90133	-2.62	2.04	0.899	0.19271	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.94450	0.8214	M	0.87971	2.92	0.19775	N	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85201	0.1015	9	0.87932	D	0	.	5.4852	0.16745	0.0:0.0:0.6708:0.3292	.	215;215	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	215	ENSP00000291971:G215R	ENSP00000291971:G215R	G	+	1	0	NLRP8	61157879	1.000000	0.71417	0.002000	0.10522	0.061000	0.15899	4.154000	0.58125	0.368000	0.24481	0.514000	0.50259	GGA		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		A	56466067	G	A	56466067	3	1	2	1	0	0	0	0	1	0	0	0	10483	1117	39	1	653	1	NLRP8	19	56466067	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	1617250	56466067	2662916	98	165											
RASSF2	9770	bcgsc.ca	37	chr20	4773205	4773205	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggagcttggcatctggTcaccctccggcggggcatcc	4	9	14	14	2	2	0	1	0	1	0	4	1	4	1	3	6	1	3	3	6	0	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:4773205T>C	ENST00000379400.3	-	6	551	c.356A>G	c.(355-357)gAc>gGc	p.D119G	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.D119G	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	119					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						TGGCATCTGGTCACCCTCCGG	0.537																																					Melanoma(158;1891 3343 50738)	.											0													73	66	68					20																	4773205		2203	4300	6503	SO:0001583	missense	9770			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.356A>G	20.37:g.4773205T>C	ENSP00000368710:p.Asp119Gly		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170244	0.21621	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.10099	2.91;2.91	5.29	4.16	0.48862	.	2.250110	0.01224	N	0.008198	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29941	-0.9995	10	0.29301	T	0.29	.	8.9967	0.36057	0.1708:0.0:0.0:0.8292	.	119	P50749	RASF2_HUMAN	G	119	ENSP00000368710:D119G;ENSP00000368684:D119G	ENSP00000368684:D119G	D	-	2	0	RASSF2	4721205	0.074000	0.21230	0.007000	0.13788	0.022000	0.10575	1.774000	0.38573	0.990000	0.38787	0.482000	0.46254	GAC		0.537	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		C	4773205	T	C	4773205	3	2	2	1	0	0	0	0	1	0	0	0	13086	1667	58	2	652	2	RASSF2	20	4773205	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		4773205	58252315	99	166											
KIAA1755	85449	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	36859706	36859706	+	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	ttgacaccagaagcaggggcCgcccggccctgtcccggcca	7	4	13	17	3	0	2	0	1	0	1	1	2	1	2	6	4	1	1	6	4	1	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:36859706C>T	ENST00000279024.4	-	5	2040	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	590										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)				AAGCAGGGGCCGCCCGGCCCT	0.637																																						.											0													46	44	44					20																	36859706		2203	4300	6503	SO:0001583	missense	85449			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.1769G>A	20.37:g.36859706C>T	ENSP00000279024:p.Arg590Gln		Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812690	0.90707	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.68903	-0.36	4.97	4.02	0.46733	.	0.163457	0.27473	N	0.019219	T	0.79718	0.4494	M	0.90019	3.08	0.43579	D	0.995916	D	0.69078	0.997	P	0.54629	0.757	T	0.83267	-0.0045	10	0.54805	T	0.06	.	12.3865	0.55335	0.0:0.9191:0.0:0.0809	.	590	Q5JYT7	K1755_HUMAN	Q	590;137	ENSP00000279024:R590Q	ENSP00000279024:R590Q	R	-	2	0	KIAA1755	36293120	0.995000	0.38212	0.993000	0.49108	0.985000	0.73830	2.737000	0.47393	1.307000	0.44944	0.655000	0.94253	CGG		0.637	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36859706	C	T	36859706	3	4	2	1	0	0	0	0	1	0	0	0	8257	652	23	1	1873	1	KIAA1755	20	36859706	Missense_Mutation	SNP	C	TCGA-KL-8324-01A-11D-2310-10	32086501	36859706	26165814	100	167											
NTSR1	4923	ucsc.edu	37	chr20	61340870	61340870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcacggtgcattaccAcctgggcagcctggcgctgt	7	7	14	13	2	0	1	0	0	0	1	0	1	0	1	3	3	4	5	3	3	1	1			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:61340870A>G	ENST00000370501.3	+	1	682	c.311A>G	c.(310-312)cAc>cGc	p.H104R		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	104					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GTGCATTACCACCTGGGCAGC	0.667																																					GBM(37;400 780 6403 19663 35669)	.											0													62	55	58					20																	61340870		2203	4300	6503	SO:0001583	missense	4923				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.311A>G	20.37:g.61340870A>G	ENSP00000359532:p.His104Arg		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154838	0.57259	.	.	ENSG00000101188	ENST00000370501	T	0.72051	-0.62	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.115441	0.64402	D	0.000019	D	0.83566	0.5282	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85652	0.1283	10	0.62326	D	0.03	-41.695	14.2424	0.65966	1.0:0.0:0.0:0.0	.	104	P30989	NTR1_HUMAN	R	104	ENSP00000359532:H104R	ENSP00000359532:H104R	H	+	2	0	NTSR1	60811315	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	9.140000	0.94607	1.852000	0.53769	0.459000	0.35465	CAC		0.667	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			G	61340870	A	G	61340870	3	3	2	1	0	0	0	0	1	0	0	0	10710	159	6	2	313	2	NTSR1	20	61340870	Missense_Mutation	SNP	A	TCGA-KL-8324-01A-11D-2310-10	24481164	61340870	1684650	101	168											
C21orf45	54069	ucsc.edu;bcgsc.ca	37	chr21	33642787	33642787	+	Missense_Mutation	SNP	T	T	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	gattcttgggcgtgcatctgTacacgtagccaagattgagt	9	12	12	8	2	2	2	0	1	2	1	2	3	2	2	1	1	3	3	1	1	3	5			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr21:33642787T>C	ENST00000290130.3	-	3	509	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	152					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CGTGCATCTGTACACGTAGCC	0.428																																						.											0													91	79	83					21																	33642787		2203	4300	6503	SO:0001583	missense	54069			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.455A>G	21.37:g.33642787T>C	ENSP00000290130:p.Tyr152Cys		B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725511	0.30593	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.78	1.86	0.25419	.	0.146850	0.47455	D	0.000238	T	0.69620	0.3131	M	0.78456	2.415	0.39383	D	0.966298	D	0.89917	1.0	D	0.91635	0.999	T	0.68387	-0.5422	9	0.87932	D	0	-18.7714	4.1683	0.10317	0.3142:0.0849:0.0:0.6008	.	152	Q9NYP9	MS18A_HUMAN	C	152	.	ENSP00000290130:Y152C	Y	-	2	0	MIS18A	32564658	1.000000	0.71417	0.190000	0.23270	0.002000	0.02628	1.856000	0.39389	0.428000	0.26173	-0.451000	0.05528	TAC		0.428	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		C	33642787	T	C	33642787	3	2	2	1	0	0	0	0	1	0	0	0	2126	1638	57	2	258	2	C21orf45	21	33642787	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10		33642787	14487108	102	169											
GGT1	2678	mdanderson.org	37	chr22	25023406	25023406	+	Missense_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	ggggtctcggcaggtggtccGcaacatgacctccgagttct	6	9	14	12	3	2	1	0	1	2	0	5	2	4	1	3	5	1	3	3	5	1	1	rs201401901	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr22:25023406G>A	ENST00000400382.1	+	12	1783	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	GGT1_ENST00000404223.1_5'UTR|GGT1_ENST00000404532.1_5'UTR|GGT1_ENST00000248923.4_Missense_Mutation_p.R343H|GGT1_ENST00000400383.1_Missense_Mutation_p.R343H|GGT1_ENST00000403838.1_5'UTR|GGT1_ENST00000404920.1_5'Flank|GGT1_ENST00000406383.2_Missense_Mutation_p.R343H|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.R343H|GGT1_ENST00000401885.1_5'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	343					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)	CAGGTGGTCCGCAACATGACC	0.642																																						.											0																																										SO:0001583	missense	2678			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.1028G>A	22.37:g.25023406G>A	ENSP00000383232:p.Arg343His		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.391735	0.25118	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24;3.24	3.4	-6.79	0.01715	.	0.600559	0.16428	N	0.214821	T	0.07143	0.0181	M	0.69463	2.115	0.21740	N	0.999564	B	0.24920	0.114	B	0.18561	0.022	T	0.16897	-1.0387	10	0.33141	T	0.24	-18.4417	7.7103	0.28673	0.5724:0.1197:0.3079:0.0	.	343	P19440	GGT1_HUMAN	H	343	ENSP00000248923:R343H;ENSP00000393537:R343H;ENSP00000383232:R343H;ENSP00000383233:R343H;ENSP00000383231:R343H;ENSP00000385975:R343H	ENSP00000248923:R343H	R	+	2	0	GGT1	23353406	0.007000	0.16637	0.525000	0.27900	0.904000	0.53231	-0.004000	0.12878	-1.203000	0.02652	-0.708000	0.03648	CGC		0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		A	25023406	G	A	25023406	3	1	2	1	0	0	0	0	1	0	0	0	6361	1087	38	1	1058	1	GGT1	22	25023406	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10		25023406	26281160	103	170											
TMEM184B	25829	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	38621520	38621520	+	Missense_Mutation	SNP	T	T	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	gcagctcccgggtggcgaagTagaagaggaagagggcgtag	11	4	19	7	3	0	3	0	0	0	3	1	5	1	4	1	4	1	4	1	4	5	2			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr22:38621520T>C	ENST00000361906.3	-	7	906	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	TMEM184B_ENST00000361684.4_Missense_Mutation_p.Y233C|TMEM184B_ENST00000504337.1_5'Flank	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	233						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGTGGCGAAGTAGAAGAGGAA	0.582																																						.											0													134	118	123					22																	38621520		2203	4300	6503	SO:0001583	missense	25829			AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.698A>G	22.37:g.38621520T>C	ENSP00000355210:p.Tyr233Cys		A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899042	0.91962	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.61980	0.06;0.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91444	0.5176	10	0.87932	D	0	-16.9921	16.2303	0.82332	0.0:0.0:0.0:1.0	.	233	Q9Y519	T184B_HUMAN	C	233	ENSP00000355210:Y233C;ENSP00000354441:Y233C	ENSP00000354441:Y233C	Y	-	2	0	TMEM184B	36951466	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	6.187000	0.72039	2.233000	0.73108	0.533000	0.62120	TAC		0.582	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		C	38621520	T	C	38621520	3	2	2	1	0	0	0	0	1	0	0	0	16102	1638	57	2	537	2	TMEM184B	22	38621520	Missense_Mutation	SNP	T	TCGA-KL-8324-01A-11D-2310-10	13598114	38621520	12683046	104	171											
VCX3A	51481	mdanderson.org	37	chrX	6451843	6451843	+	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	ctcagtggttcctccacctgGctctcctgactcagtggttc	4	13	9	15	0	3	1	2	1	1	0	7	1	5	1	4	3	0	3	4	3	0	2	rs199720302		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:6451843G>A	ENST00000381089.3	-	3	810	c.504C>T	c.(502-504)agC>agT	p.S168S	VCX3A_ENST00000398729.1_Silent_p.S148S	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	168	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development (GO:0007420)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|lung(2)|pancreas(1)	4						CCTCCACCTGGCTCTCCTGAC	0.577																																						.											0													170	159	163					X																	6451843		2203	4292	6495	SO:0001819	synonymous_variant	51481			AF159128	CCDS35199.1	Xp22.31	2008-02-05	2005-01-11	2005-01-12	ENSG00000169059	ENSG00000169059			18159	protein-coding gene	gene with protein product		300533	"variable charge, X-linked 3"	VCX3		10607842	Standard	NM_016379		Approved	VCX-8r, VCX-8R, VCX-A	uc004crs.3	Q9NNX9	OTTHUMG00000021097	ENST00000381089.3:c.504C>T	X.37:g.6451843G>A			Q9P0H4	Silent	SNP	ENST00000381089.3	37	CCDS35199.1																																																																																				0.577	VCX3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055679.1	NM_016379		A	6451843	G	A	6451843	2	1	2	1	0	0	0	0	0	0	0	1	17141	1194	42	3		3	VCX3A	23	6451843	Silent	SNP	G	TCGA-KL-8324-01A-11D-2310-10		6451843	148818717	105	172											
ARHGAP36	158763	broad.mit.edu;mdanderson.org	37	chrX	130219620	130219620	+	Silent	SNP	C	C	A																															ctggtctacctgatgccaccCtgccacagtgataccctgga																										TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:130219620C>A	ENST00000276211.5	+	8	1359	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	ARHGAP36_ENST00000370921.1_Silent_p.P202P|ARHGAP36_ENST00000370922.1_Silent_p.P326P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	338	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						TGATGCCACCCTGCCACAGTG	0.507																																						.											0													202	204	203					X																	130219620		2203	4300	6503	SO:0001819	synonymous_variant	158763				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.1014C>A	X.37:g.130219620C>A			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	CCDS14628.1																																																																																				0.507	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		A	130219620	C	A	130219620	2	1	2	1	0	0	0	0	0	0	0	1	883	668	24	5		5	ARHGAP36	23	130219620	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	123767777	130219620	25050940	106	173	3	2									
ARHGAP36	158763	broad.mit.edu	37	chrX	130219622	130219622	+	Missense_Mutation	SNP	G	G	T																															ggtctacctgatgccaccctGccacagtgataccctggagc																										TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:130219622G>T	ENST00000276211.5	+	8	1361	c.1016G>T	c.(1015-1017)tGc>tTc	p.C339F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.C203F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.C327F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	339	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.C339Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATGCCACCCTGCCACAGTGAT	0.512																																						.											1	Substitution - Missense(1)	kidney(1)											199	200	200					X																	130219622		2203	4300	6503	SO:0001583	missense	158763				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.1016G>T	X.37:g.130219622G>T	ENSP00000276211:p.Cys339Phe		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507094	0.64410	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.126831	0.36972	N	0.002302	T	0.36690	0.0976	M	0.84846	2.72	0.58432	D	0.999998	P;P;D	0.53462	0.95;0.95;0.96	P;P;P	0.59424	0.776;0.776;0.857	T	0.36456	-0.9747	10	0.10111	T	0.7	.	12.1001	0.53778	0.0:0.0:1.0:0.0	.	308;327;339	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	F	339;327;308;203	ENSP00000276211:C339F;ENSP00000359960:C327F;ENSP00000408515:C308F;ENSP00000359959:C203F	ENSP00000276211:C339F	C	+	2	0	ARHGAP36	130047303	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.348000	0.90064	2.243000	0.73865	0.600000	0.82982	TGC		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		T	130219622	G	T	130219622	3	4	2	1	0	0	0	0	1	0	0	0	883	1319	46	5	1042	5	ARHGAP36	23	130219622	Missense_Mutation	SNP	G	TCGA-KL-8324-01A-11D-2310-10	2	130219622	25050938	107	174	3	2									
MCF2	4168	broad.mit.edu;mdanderson.org	37	chrX	138698453	138698453	+	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	gcctctaccttaagctcaggAgataatattacatcaaattc	14	12	5	10	0	3	1	2	0	1	1	4	2	3	1	2	1	3	1	2	1	6	6			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:138698453A>G	ENST00000370576.4	-	9	1388	c.1179T>C	c.(1177-1179)tcT>tcC	p.S393S	MCF2_ENST00000414978.1_Silent_p.S453S|MCF2_ENST00000519895.1_Silent_p.S453S|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000370573.4_Silent_p.S393S|MCF2_ENST00000370578.4_Silent_p.S538S|MCF2_ENST00000536274.1_Silent_p.S354S|MCF2_ENST00000338585.6_Silent_p.S393S|MCF2_ENST00000520602.1_Silent_p.S453S	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	393					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TAAGCTCAGGAGATAATATTA	0.318																																						.											0													24	22	23					X																	138698453		2200	4275	6475	SO:0001819	synonymous_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1179T>C	X.37:g.138698453A>G			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																				0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		G	138698453	A	G	138698453	2	3	2	1	0	0	0	0	0	0	0	1	9378	291	11	2		2	MCF2	23	138698453	Silent	SNP	A	TCGA-KL-8324-01A-11D-2310-10	8478831	138698453	16572107	108	175											
SLC6A8	6535	broad.mit.edu	37	chrX	152956889	152956889	+	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	tgggccacatgtggccacacCtggaacactcccgactgcgt	8	7	11	15	2	0	0	0	0	0	0	1	2	1	1	4	3	2	0	4	3	1	0			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:152956889C>T	ENST00000253122.5	+	3	1001	c.525C>T	c.(523-525)acC>acT	p.T175T	SLC6A8_ENST00000430077.2_Silent_p.T60T	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	175					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)	GTGGCCACACCTGGAACACTC	0.592																																						.											0													72	66	68					X																	152956889		2203	4300	6503	SO:0001819	synonymous_variant	6535				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.525C>T	X.37:g.152956889C>T			B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	CCDS14726.1																																																																																				0.592	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			T	152956889	C	T	152956889	2	4	2	1	0	0	0	0	0	0	0	1	14690	668	24	4		4	SLC6A8	23	152956889	Silent	SNP	C	TCGA-KL-8324-01A-11D-2310-10	14258436	152956889	2313671	109	176											
PRAMEF11	440560	mdanderson.org	37	chr1	12885127	12885127	+	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	ctcagggcaggcaggatggcGttgacttgggagtctatgat	8	10	16	7	1	2	2	1	2	1	0	2	4	2	4	0	5	0	3	0	5	1	3	rs201757978	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:12885127G>A	ENST00000535591.1	-	4	1179	c.984C>T	c.(982-984)aaC>aaT	p.N328N	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	328					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)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCAGGATGGCGTTGACTTGGG	0.517																																						.											0													11	8	9					1																	12885127		692	1569	2261	SO:0001819	synonymous_variant	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.984C>T	1.37:g.12885127G>A				Silent	SNP	ENST00000535591.1	37	CCDS53268.1																																																																																				0.517	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		A	12885127	G	A	12885127	2	1	3	1	0	0	0	0	0	0	0	1	12427	1136	40	1		1	PRAMEF11	1	12885127	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10		12885127	236365494	1	177											
CROCC	9696	mdanderson.org	37	chr1	17277573	17277573	+	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	aggcctctctgcgggagcagCgggcagctcacgaggaggac	8	4	17	12	3	2	0	1	0	1	0	3	4	2	3	1	5	4	3	1	5	0	0	rs3969856		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:17277573C>T	ENST00000375541.5	+	20	3031	c.2962C>T	c.(2962-2964)Cgg>Tgg	p.R988W	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)		GCGGGAGCAGCGGGCAGCTCA	0.592																																						.											0													15	16	16					1																	17277573		2201	4293	6494	SO:0001583	missense	9696			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.2962C>T	1.37:g.17277573C>T	ENSP00000364691:p.Arg988Trp			Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183903	0.57800	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.23147	1.92	4.83	3.91	0.45181	.	.	.	.	.	T	0.41581	0.1165	L	0.50333	1.59	0.32100	N	0.59074	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.51810	-0.8658	9	0.72032	D	0.01	.	11.1907	0.48683	0.1842:0.8158:0.0:0.0	rs3969856	291;988	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	W	988;869	ENSP00000364691:R988W	ENSP00000364691:R988W	R	+	1	2	CROCC	17150160	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	1.759000	0.38420	1.347000	0.45714	0.556000	0.70494	CGG		0.592	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17277573	C	T	17277573	3	4	3	1	0	0	0	0	1	0	0	0	3893	759	27	1	3040	1	CROCC	1	17277573	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	4392446	17277573	231973048	2	178											
CD52	1043	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	26644516	26644516	+	Missense_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	agatcctaccaaaatgaagcGcttcctcttcctcctactca	11	11	4	15	1	2	2	1	1	1	1	6	2	6	2	5	0	3	1	5	0	5	4	rs570039509		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:26644516G>A	ENST00000374213.2	+	1	69	c.8G>A	c.(7-9)cGc>cAc	p.R3H	CD52_ENST00000492808.1_3'UTR|UBXN11_ENST00000374222.1_Intron|UBXN11_ENST00000374217.2_Intron	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	3					positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				large_intestine(1)	1		all_cancers(24;5.02e-24)|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;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	AAAATGAAGCGCTTCCTCTTC	0.517													G|||	1	0.000199681	0	0	5008	,	,		19805	0		0	False		,,,				2504	0.001					.											0													260	192	215					1																	26644516		2203	4300	6503	SO:0001583	missense	1043				CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"CD molecules"	1804	protein-coding gene	gene with protein product		114280	"CD52 antigen (CAMPATH-1 antigen)"	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.8G>A	1.37:g.26644516G>A	ENSP00000363330:p.Arg3His		Q5T138|Q9BW46	Missense_Mutation	SNP	ENST00000374213.2	37	CCDS30647.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597022	0.28445	.	.	ENSG00000169442	ENST00000374213	T	0.36340	1.26	4.05	2.14	0.27477	.	0.788204	0.10392	N	0.680354	T	0.34454	0.0898	.	.	.	0.23309	N	0.997936	D	0.62365	0.991	P	0.48982	0.597	T	0.13019	-1.0525	9	0.37606	T	0.19	.	5.8326	0.18588	0.1075:0.1951:0.6974:0.0	.	3	P31358	CD52_HUMAN	H	3	ENSP00000363330:R3H	ENSP00000363330:R3H	R	+	2	0	CD52	26517103	0.998000	0.40836	0.985000	0.45067	0.154000	0.21943	1.196000	0.32198	0.642000	0.30620	-0.324000	0.08512	CGC		0.517	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	NM_001803		A	26644516	G	A	26644516	3	1	3	1	0	0	0	0	1	0	0	0	3022	1087	38	1	10	1	CD52	1	26644516	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	9366943	26644516	222606105	3	179											
SPTA1	6708	bcgsc.ca	37	chr1	158646033	158646033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggatctgaggtgcaTctgaaggatgggaaagtgtc	9	11	14	7	0	3	2	0	2	3	0	5	5	3	5	1	4	1	1	1	4	2	0			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:158646033T>C	ENST00000368147.4	-	8	1190	c.1010A>G	c.(1009-1011)gAt>gGt	p.D337G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	337					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)					CTGAGGTGCATCTGAAGGATG	0.463																																						.											0													214	203	206					1																	158646033		1927	4146	6073	SO:0001583	missense	6708			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.1010A>G	1.37:g.158646033T>C	ENSP00000357129:p.Asp337Gly		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264331	0.80358	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37584	1.19;1.19	4.91	4.91	0.64330	.	0.511732	0.14639	N	0.307348	T	0.22551	0.0544	L	0.28400	0.85	0.43381	D	0.995486	B	0.29115	0.233	B	0.39465	0.3	T	0.13442	-1.0509	10	0.56958	D	0.05	.	13.5333	0.61633	0.0:0.0:0.0:1.0	.	337	P02549	SPTA1_HUMAN	G	337	ENSP00000357130:D337G;ENSP00000357129:D337G	ENSP00000357129:D337G	D	-	2	0	SPTA1	156912657	1.000000	0.71417	0.373000	0.26003	0.971000	0.66376	6.818000	0.75257	2.033000	0.60031	0.533000	0.62120	GAT		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158646033	T	C	158646033	3	2	3	1	0	0	0	0	1	0	0	0	15115	1435	50	4	6429	4	SPTA1	1	158646033	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	132001517	158646033	90604588	4	180											
C1orf129	80133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	170993854	170993854	+	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	gtcaacatcacgtttgctcaAagatgaaaattacagttttg	14	13	7	7	1	3	2	3	1	0	1	3	2	3	2	0	0	3	3	0	0	5	4			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:170993854A>T	ENST00000367759.4	+	19	2280	c.2126A>T	c.(2125-2127)aAa>aTa	p.K709I		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	CGTTTGCTCAAAGATGAAAAT	0.353																																						.											0													67	59	61					1																	170993854		692	1591	2283	SO:0001583	missense	80133			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367759.4:c.2126A>T	1.37:g.170993854A>T	ENSP00000356733:p.Lys709Ile		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367759.4	37	CCDS53429.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885530	0.51908	.	.	ENSG00000117501	ENST00000367759	T	0.67865	-0.29	5.51	0.0654	0.14356	.	.	.	.	.	T	0.22205	0.0535	L	0.27053	0.805	0.09310	N	1	P	0.41524	0.753	B	0.37304	0.246	T	0.07947	-1.0746	9	0.20519	T	0.43	.	2.082	0.03637	0.4381:0.3205:0.0867:0.1547	.	709	F5GWX6	.	I	709	ENSP00000356733:K709I	ENSP00000356733:K709I	K	+	2	0	C1orf129	169260478	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.386000	0.20702	0.100000	0.17581	0.533000	0.62120	AAA		0.353	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025063		T	170993854	A	T	170993854	3	4	3	1	0	0	0	0	1	0	0	0	1996	14	1	5	2322	5	C1orf129	1	170993854	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	12347821	170993854	78256767	5	181											
SOX13	9580	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	204092909	204092909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccttcccagacatgcacaActccagcatcagcaagatcc	13	6	6	16	0	1	2	1	0	0	2	4	2	4	2	4	0	5	3	4	0	2	1			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr1:204092909A>G	ENST00000367204.1	+	12	1461	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	451					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)			GACATGCACAACTCCAGCATC	0.572											OREG0014126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													62	66	65					1																	204092909		2198	4300	6498	SO:0001583	missense	9580				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.1352A>G	1.37:g.204092909A>G	ENSP00000356172:p.Asn451Ser	2142	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886738	0.91814	.	.	ENSG00000143842	ENST00000367204	D	0.98150	-4.75	5.26	5.26	0.73747	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.77406	2.37	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	D	0.99795	1.1033	10	0.87932	D	0	.	14.8475	0.70270	1.0:0.0:0.0:0.0	.	318;318;451	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	S	451	ENSP00000356172:N451S	ENSP00000356172:N451S	N	+	2	0	SOX13	202359532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.991000	0.58162	0.533000	0.62120	AAC		0.572	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		G	204092909	A	G	204092909	3	3	3	1	0	0	0	0	1	0	0	0	14944	43	2	2	1394	2	SOX13	1	204092909	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	33099055	204092909	45157712	6	182											
BIRC6	57448	hgsc.bcm.edu	37	chr2	32718631	32718631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctacagctacacaagctAtgcaagaatttcttactcga	13	11	6	11	1	1	1	0	0	1	1	3	2	2	1	1	0	6	3	1	0	7	5			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr2:32718631A>G	ENST00000421745.2	+	45	8499	c.8365A>G	c.(8365-8367)Atg>Gtg	p.M2789V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2789					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)					TACACAAGCTATGCAAGAATT	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	.											0													167	167	167					2																	32718631		2203	4300	6503	SO:0001583	missense	57448			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.8365A>G	2.37:g.32718631A>G	ENSP00000393596:p.Met2789Val		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	12.11	1.838356	0.32513	.	.	ENSG00000115760	ENST00000421745	T	0.72835	-0.69	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	N	0.14661	0.345	0.45718	D	0.998624	B	0.15141	0.012	B	0.10450	0.005	T	0.50092	-0.8868	10	0.18710	T	0.47	.	15.6548	0.77124	1.0:0.0:0.0:0.0	.	2789	Q9NR09	BIRC6_HUMAN	V	2789	ENSP00000393596:M2789V	ENSP00000393596:M2789V	M	+	1	0	BIRC6	32572135	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.820000	0.75267	2.162000	0.67917	0.377000	0.23210	ATG		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32718631	A	G	32718631	3	3	3	1	0	0	0	0	1	0	0	0	1438	449	16	4	8543	4	BIRC6	2	32718631	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10		32718631	210480742	7	183											
NRP2	8828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	206605324	206605324	+	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	tgacaaggtttgttagaatcCgccctcagacctggcactca	10	10	9	12	1	2	3	2	1	0	2	3	3	3	3	3	2	0	3	3	2	3	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr2:206605324C>T	ENST00000357785.5	+	8	1259	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	NRP2_ENST00000360409.3_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C|NRP2_ENST00000540178.1_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000412873.2_Missense_Mutation_p.R410C|NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000272849.3_Missense_Mutation_p.R410C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R410C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTAGAATCCGCCCTCAGAC	0.557																																						.											1	Substitution - Missense(1)	prostate(1)											127	106	113					2																	206605324		2203	4300	6503	SO:0001583	missense	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1228C>T	2.37:g.206605324C>T	ENSP00000350432:p.Arg410Cys		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780182	0.70222	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.97	5.1	0.69264	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	L	0.60904	1.88	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	0.998;0.998;0.999;0.996;0.996;0.993	D	0.98708	1.0703	10	0.72032	D	0.01	-25.332	15.1719	0.72881	0.0:0.9326:0.0:0.0674	.	410;410;410;410;410;410	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	410	ENSP00000353582:R410C;ENSP00000439658:R410C;ENSP00000439261:R410C;ENSP00000347238:R410C;ENSP00000387519:R410C;ENSP00000349632:R410C;ENSP00000350432:R410C;ENSP00000407626:R410C;ENSP00000272849:R410C	ENSP00000272849:R410C	R	+	1	0	NRP2	206313569	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	2.780000	0.47742	1.546000	0.49388	-0.136000	0.14681	CGC		0.557	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			T	206605324	C	T	206605324	3	4	3	1	0	0	0	0	1	0	0	0	10661	652	23	1	1258	1	NRP2	2	206605324	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	173886693	206605324	36594049	8	184											
ITGA9	3680	broad.mit.edu	37	chr3	37523097	37523097	+	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	acgctgatcccttgctatgaAggtgagcatggattgatttt	9	14	11	7	1	0	4	0	4	0	0	1	5	1	5	1	2	2	3	1	2	2	5			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:37523097A>G	ENST00000264741.5	+	4	799	c.543A>G	c.(541-543)gaA>gaG	p.E181E	ITGA9_ENST00000422441.1_Splice_Site_p.E181E	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	181					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)		CTTGCTATGAAGGTGAGCATG	0.542																																						.											0													211	174	186					3																	37523097		2203	4300	6503	SO:0001630	splice_region_variant	3680			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.544+1A>G	3.37:g.37523097A>G			Q14638	Silent	SNP	ENST00000264741.5	37	CCDS2669.1																																																																																				0.542	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	Silent	G	37523097	A	G	37523097	5	3	3	1	0	0	0	0	0	0	1	0	7883	86	3	2	557	2	ITGA9	3	37523097	Splice_Site	SNP	A	TCGA-KL-8325-01A-11D-2310-10		37523097	160499333	9	185											
ROBO2	6092	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	77526693	77526693	+	Nonsense_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	actggaaaaaagacaaagttCgaattgatgacaaggaagaa	21	6	10	4	1	0	4	0	2	0	2	1	7	0	6	0	2	0	1	0	2	8	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:77526693C>T	ENST00000461745.1	+	3	1417	c.517C>T	c.(517-519)Cga>Tga	p.R173*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R173*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R189*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	173	Ig-like C2-type 2.				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)		AGACAAAGTTCGAATTGATGA	0.423																																						.											0													66	66	66					3																	77526693		1826	4079	5905	SO:0001587	stop_gained	6092			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.517C>T	3.37:g.77526693C>T	ENSP00000417164:p.Arg173*		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	37	6.079931	0.97267	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.	.	.	5.58	5.58	0.84498	.	0.000000	0.38164	N	0.001783	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.7339	0.69402	0.1447:0.8552:0.0:0.0	.	.	.	.	X	189;189;189;173;173	.	ENSP00000327536:R173X	R	+	1	2	ROBO2	77609383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.043000	0.49823	2.789000	0.95967	0.655000	0.94253	CGA		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77526693	C	T	77526693	4	4	3	1	0	0	0	0	0	1	0	0	13514	876	31	1	529	1	ROBO2	3	77526693	Nonsense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	40003596	77526693	120495737	10	186											
MCM2	4171	broad.mit.edu	37	chr3	127317314	127317314	+	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	ggatcgtggtactgctatggCggtgagcgcgctggcgcgtg	4	9	19	9	6	0	1	0	1	0	0	1	2	0	2	0	5	3	3	0	5	2	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:127317314C>T	ENST00000265056.7	+	1	249	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	2	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						ACTGCTATGGCGGTGAGCGCG	0.692																																						.											0													68	62	64					3																	127317314		2201	4300	6501	SO:0001630	splice_region_variant	4171			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.6+1C>T	3.37:g.127317314C>T			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902057	0.72754	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02345	4.33	4.09	4.09	0.47781	.	1.936480	0.03942	U	0.287041	T	0.06735	0.0172	N	0.08118	0	0.50171	D	0.999859	D	0.76494	0.999	D	0.65874	0.939	T	0.44065	-0.9352	10	0.59425	D	0.04	-0.0334	12.1747	0.54178	0.0:1.0:0.0:0.0	.	2	P49736	MCM2_HUMAN	V	2	ENSP00000265056:A2V	ENSP00000265056:A2V	A	+	2	0	MCM2	128800004	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	4.102000	0.57776	1.998000	0.58463	0.484000	0.47621	GCG		0.692	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		Missense_Mutation	T	127317314	C	T	127317314	5	4	3	1	0	0	0	0	0	0	1	0	9386	782	27	1	7	1	MCM2	3	127317314	Splice_Site	SNP	C	TCGA-KL-8325-01A-11D-2310-10	49790621	127317314	70705116	11	187											
MECOM	2122	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	168834235	168834235	+	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	ggaaaggtaagaccagcaggAtgcctattggcgccaaaata	15	6	12	8	1	0	1	0	0	0	1	0	3	0	3	3	4	2	2	3	4	6	4			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:168834235A>C	ENST00000464456.1	-	7	2061	c.861T>G	c.(859-861)caT>caG	p.H287Q	MECOM_ENST00000460814.1_Missense_Mutation_p.H287Q|MECOM_ENST00000433243.2_Missense_Mutation_p.H288Q|MECOM_ENST00000264674.3_Missense_Mutation_p.H352Q|MECOM_ENST00000472280.1_Missense_Mutation_p.H288Q|MECOM_ENST00000392736.3_Missense_Mutation_p.H287Q|MECOM_ENST00000468789.1_Missense_Mutation_p.H287Q|MECOM_ENST00000494292.1_Missense_Mutation_p.H475Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GACCAGCAGGATGCCTATTGG	0.493																																						.											0													328	284	299					3																	168834235		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.861T>G	3.37:g.168834235A>C	ENSP00000419770:p.His287Gln		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.111995	0.37242	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06449	3.36;3.34;3.31;3.45;3.3;3.34;3.3;3.45	6.03	2.42	0.29668	.	0.000000	0.64402	D	0.000001	T	0.17704	0.0425	L	0.57536	1.79	0.53688	D	0.999976	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.83275	0.996;0.996;0.991;0.996;0.991	T	0.00119	-1.2031	10	0.49607	T	0.09	-13.3669	9.5611	0.39369	0.8039:0.0:0.1961:0.0	.	475;288;475;352;287	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	352;287;287;288;475;287;287;288	ENSP00000264674:H352Q;ENSP00000376493:H287Q;ENSP00000419770:H287Q;ENSP00000420048:H288Q;ENSP00000417899:H475Q;ENSP00000419995:H287Q;ENSP00000420466:H287Q;ENSP00000394302:H288Q	ENSP00000264674:H352Q	H	-	3	2	MECOM	170316929	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.789000	0.47813	0.187000	0.20147	-0.250000	0.11733	CAT		0.493	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		C	168834235	A	C	168834235	3	2	3	1	0	0	0	0	1	0	0	0	9422	330	12	5	2334	5	MECOM	3	168834235	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	41516921	168834235	29188195	12	188											
MCF2L2	23101	broad.mit.edu	37	chr3	183028733	183028733	+	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	tcgtgctcaaaatgctgtagTtgtaggcactggttaagctt	9	14	11	7	1	1	0	1	0	0	0	2	0	1	0	0	2	3	8	0	2	5	5			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:183028733T>C	ENST00000328913.3	-	9	1260	c.963A>G	c.(961-963)caA>caG	p.Q321Q	MCF2L2_ENST00000447025.2_Silent_p.Q321Q|MCF2L2_ENST00000414362.2_Silent_p.Q321Q|MCF2L2_ENST00000473233.1_Silent_p.Q321Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	321							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)			AATGCTGTAGTTGTAGGCACT	0.393																																						.											0													112	109	110					3																	183028733		2203	4300	6503	SO:0001819	synonymous_variant	23101			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.963A>G	3.37:g.183028733T>C			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	CCDS3243.1																																																																																				0.393	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		C	183028733	T	C	183028733	2	2	3	1	0	0	0	0	0	0	0	1	9380	1722	60	2		2	MCF2L2	3	183028733	Silent	SNP	T	TCGA-KL-8325-01A-11D-2310-10	14194498	183028733	14993697	13	189											
ETV5	2119	broad.mit.edu	37	chr3	185783822	185783822	+	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	ccaggaactcctggctgaggAgggaaggggtggcagggttc	8	6	19	8	0	0	1	0	1	0	0	2	4	1	4	2	8	1	3	2	8	2	1			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr3:185783822A>G	ENST00000306376.5	-	8	936	c.690T>C	c.(688-690)ccT>ccC	p.P230P	ETV5_ENST00000434744.1_Silent_p.P230P|ETV5_ENST00000537818.1_Silent_p.P272P|ETV5_ENST00000480706.1_5'Flank	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	230					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTGGCTGAGGAGGGAAGGGGT	0.488			T	"TMPRSS2, SCL45A3"	Prostate																																	.		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													66	73	71					3																	185783822		2203	4300	6503	SO:0001819	synonymous_variant	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.690T>C	3.37:g.185783822A>G			A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	ENST00000306376.5	37	CCDS33906.1																																																																																				0.488	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		G	185783822	A	G	185783822	2	3	3	1	0	0	0	0	0	0	0	1	5282	291	11	2		2	ETV5	3	185783822	Silent	SNP	A	TCGA-KL-8325-01A-11D-2310-10	2755089	185783822	12238608	14	190											
ANKRD17	26057	hgsc.bcm.edu	37	chr4	73956951	73956951	+	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	aggaacagtcattctaacttCcgggggaggaacctgagact	12	8	12	9	1	2	1	1	1	1	1	3	5	3	4	2	4	3	0	2	4	3	3			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr4:73956951C>T	ENST00000358602.4	-	29	6510	c.6394G>A	c.(6394-6396)Gaa>Aaa	p.E2132K	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E2019K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1881K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2132					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)			ATTCTAACTTCCGGGGGAGGA	0.517																																						.											0													115	121	119					4																	73956951		2203	4300	6503	SO:0001583	missense	26057			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.6394G>A	4.37:g.73956951C>T	ENSP00000351416:p.Glu2132Lys		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	7.126	0.578957	0.13686	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.65364	-0.15;-0.12;-0.12	5.17	5.17	0.71159	.	0.392312	0.24368	N	0.039137	T	0.42404	0.1201	N	0.08118	0	0.26174	N	0.979828	B;B;B;B	0.25809	0.135;0.135;0.083;0.008	B;B;B;B	0.21917	0.037;0.037;0.016;0.004	T	0.40421	-0.9564	10	0.48119	T	0.1	.	13.7865	0.63112	0.1532:0.8468:0.0:0.0	.	2131;1881;2132;2019	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	2132;1539;1881;2019;516	ENSP00000351416:E2132K;ENSP00000332265:E1881K;ENSP00000427151:E2019K	ENSP00000332265:E1881K	E	-	1	0	ANKRD17	74175815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.190000	0.65104	2.694000	0.91930	0.650000	0.86243	GAA		0.517	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	73956951	C	T	73956951	3	4	3	1	0	0	0	0	1	0	0	0	646	864	30	3	1441	3	ANKRD17	4	73956951	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		73956951	117197325	15	191											
IRX2	153572	ucsc.edu	37	chr5	2748604	2748604	+	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	gcagagttgtaccgcaggagAccctggccctgcagcgccgc	7	5	14	15	3	0	2	0	0	0	2	0	3	0	2	4	2	3	5	4	2	1	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:2748604A>G	ENST00000382611.6	-	3	1466	c.1218T>C	c.(1216-1218)ggT>ggC	p.G406G	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.G406G	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	406					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)		ACCGCAGGAGACCCTGGCCCT	0.721																																						.											0													30	31	30					5																	2748604		2183	4282	6465	SO:0001819	synonymous_variant	153572			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.1218T>C	5.37:g.2748604A>G			Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	CCDS3868.1																																																																																				0.721	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			G	2748604	A	G	2748604	2	3	3	1	0	0	0	0	0	0	0	1	7844	262	10	2		2	IRX2	5	2748604	Silent	SNP	A	TCGA-KL-8325-01A-11D-2310-10		2748604	178166656	16	192											
NIPBL	25836	bcgsc.ca	37	chr5	37016193	37016193	+	Missense_Mutation	SNP	T	T	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	accactgtttgaaaattttgTtcaagaccttctttcaacag	12	15	5	9	0	3	2	2	1	1	1	3	2	3	2	2	0	1	2	2	0	4	6			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:37016193T>C	ENST00000282516.8	+	23	5196	c.4697T>C	c.(4696-4698)gTt>gCt	p.V1566A	NIPBL_ENST00000448238.2_Missense_Mutation_p.V1566A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1566					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)			GAAAATTTTGTTCAAGACCTT	0.378																																						.											0													101	94	97					5																	37016193		2203	4300	6503	SO:0001583	missense	25836			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.4697T>C	5.37:g.37016193T>C	ENSP00000282516:p.Val1566Ala		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774543	0.90108	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.67698	-0.28;-0.28	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.064966	0.64402	D	0.000012	T	0.72930	0.3522	M	0.81802	2.56	0.58432	D	0.999996	P;P	0.45212	0.77;0.853	B;B	0.43536	0.242;0.423	T	0.78275	-0.2267	10	0.87932	D	0	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	1566;1566	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	1566	ENSP00000282516:V1566A;ENSP00000406266:V1566A	ENSP00000282516:V1566A	V	+	2	0	NIPBL	37051950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.694000	0.84235	2.285000	0.76669	0.477000	0.44152	GTT		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		C	37016193	T	C	37016193	3	2	3	1	0	0	0	0	1	0	0	0	10428	1725	60	2	4783	2	NIPBL	5	37016193	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	34267589	37016193	143899067	17	193											
SKIV2L2	23517	broad.mit.edu	37	chr5	54654428	54654428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaatacattcagatgTctggtcgtgctggaaggaga	10	11	14	6	1	2	3	1	1	1	2	3	5	2	4	0	4	2	1	0	4	3	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:54654428T>C	ENST00000230640.5	+	15	1815	c.1561T>C	c.(1561-1563)Tct>Cct	p.S521P	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.S420P	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	521	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CATTCAGATGTCTGGTCGTGC	0.323																																					Melanoma(2;92 134 23744 29976 33782)	.											0													97	96	96					5																	54654428		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1561T>C	5.37:g.54654428T>C	ENSP00000230640:p.Ser521Pro		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942479	0.92526	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.44083	0.93;0.93	5.96	5.96	0.96718	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	M	0.93898	3.47	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79784	0.943;0.993	T	0.81473	-0.0917	10	0.87932	D	0	-16.8786	16.4484	0.83959	0.0:0.0:0.0:1.0	.	420;521	F5H7E2;P42285	.;SK2L2_HUMAN	P	521;420	ENSP00000230640:S521P;ENSP00000442583:S420P	ENSP00000230640:S521P	S	+	1	0	SKIV2L2	54690185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.957000	0.87870	2.285000	0.76669	0.533000	0.62120	TCT		0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			C	54654428	T	C	54654428	3	2	3	1	0	0	0	0	1	0	0	0	14360	1667	58	2	1619	2	SKIV2L2	5	54654428	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	17638235	54654428	126260832	18	194											
SFRS12IP1	285672	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	64023984	64023984	+	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	tctttgcttttttctttcttCttttcctcttcttcatttat	2	28	1	10	0	7	0	1	0	6	0	8	0	8	0	1	0	1	1	1	0	1	12	rs578186041	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:64023984C>A	ENST00000513458.4	-	4	395	c.228G>T	c.(226-228)aaG>aaT	p.K76N		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	76	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						tttctttcttcttttcctctt	0.274																																						.											0													18	21	20					5																	64023984		2157	4236	6393	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.228G>T	5.37:g.64023984C>A	ENSP00000427401:p.Lys76Asn		Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	CCDS34171.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437539	0.43224	.	.	ENSG00000153006	ENST00000513458	.	.	.	4.07	3.12	0.35913	.	0.194626	0.53938	D	0.000051	T	0.56963	0.2021	M	0.68593	2.085	0.40136	D	0.976778	B	0.22414	0.069	B	0.19946	0.027	T	0.63747	-0.6567	9	0.72032	D	0.01	-9.3035	9.1429	0.36914	0.0:0.7764:0.2236:0.0	.	76	Q8N9Q2	SR1IP_HUMAN	N	76	.	ENSP00000427401:K76N	K	-	3	2	SREK1IP1	64059740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.683000	0.37638	2.266000	0.75297	0.655000	0.94253	AAG		0.274	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		A	64023984	C	A	64023984	3	1	3	1	0	0	0	0	1	0	0	0	14168	912	32	5	247	5	SFRS12IP1	5	64023984	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	9369556	64023984	116891276	19	195											
PCDHA8	56140	broad.mit.edu;mdanderson.org	37	chr5	140221819	140221819	+	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	atacgggagaaatagtgattCggggtaatttggattttgaa	13	13	13	2	2	0	3	0	2	0	1	1	5	0	4	0	4	1	1	0	4	5	7			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr5:140221819C>T	ENST00000531613.1	+	1	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R305W|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAGTGATTCGGGGTAATTT	0.408																																						.											0													40	45	43					5																	140221819		2197	4296	6493	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.913C>T	5.37:g.140221819C>T	ENSP00000434655:p.Arg305Trp		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592776	0.66219	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01767	4.65;4.65	3.69	-3.36	0.04913	Cadherin (4);Cadherin-like (1);	3.067170	0.02200	U	0.062209	T	0.06826	0.0174	L	0.56769	1.78	0.09310	N	1	D;D	0.64830	0.994;0.993	P;P	0.61070	0.883;0.814	T	0.41980	-0.9478	10	0.38643	T	0.18	.	11.8028	0.52137	0.6764:0.2263:0.0973:0.0	.	305;305	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	W	305	ENSP00000434655:R305W;ENSP00000367363:R305W	ENSP00000367363:R305W	R	+	1	2	PCDHA8	140202003	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	-0.980000	0.03770	-0.560000	0.06102	0.456000	0.33151	CGG		0.408	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140221819	C	T	140221819	3	4	3	1	0	0	0	0	1	0	0	0	11530	875	31	1	915	1	PCDHA8	5	140221819	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	76197835	140221819	40693441	20	196											
FAM184A	79632	broad.mit.edu	37	chr6	119399412	119399413	+	Frame_Shift_Ins	INS	-	-	C																															cggcgagggcgcgaatttggINSccgccgagccgccgtaatag																										TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr6:119399412_119399413insC	ENST00000338891.7	-	1	495_496	c.52_53insG	c.(52-54)gccfs	p.A18fs	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Frame_Shift_Ins_p.A18fs|FAM184A_ENST00000522284.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	18						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CGCGAATTTGGCCGCCGAGCCG	0.658																																						.											0																																										SO:0001589	frameshift_variant	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.53dupG	6.37:g.119399414_119399414dupC	ENSP00000342604:p.Ala18fs		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Frame_Shift_Ins	INS	ENST00000338891.7	37	CCDS43499.1																																																																																				0.658	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		C	119399413	-	C	119399412	7	5	3	1	0	1	1	0	0	0	0	0	5511	1203	42	0	3441	0	FAM184A	6	119399412	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10		119399412	51715655	21	197											
FAM20C	56975	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	208958	208958	+	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	cttccagaattacgggcaagCgctgttcaaacccatgaagt	12	9	9	11	2	1	2	1	1	0	1	2	2	2	2	2	1	3	3	2	1	5	3			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr7:208958C>T	ENST00000313766.5	+	3	1076	c.845C>T	c.(844-846)gCg>gTg	p.A282V		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	282				MTFQNYGQALFKPMK -> FLSDKPFLFLSCFLR (in Ref. 6; CAB99089). {ECO:0000305}.	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)		TACGGGCAAGCGCTGTTCAAA	0.627																																						.											0													56	59	58					7																	208958		2062	4183	6245	SO:0001583	missense	56975			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.845C>T	7.37:g.208958C>T	ENSP00000322323:p.Ala282Val		A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Missense_Mutation	SNP	ENST00000313766.5	37	CCDS47522.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496368	0.64186	.	.	ENSG00000177706	ENST00000313766	D	0.89617	-2.54	5.23	5.23	0.72850	.	0.300145	0.21112	N	0.079975	D	0.92668	0.7670	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.91794	0.5446	10	0.39692	T	0.17	.	17.5659	0.87919	0.0:1.0:0.0:0.0	.	282	Q8IXL6	DMP4_HUMAN	V	282	ENSP00000322323:A282V	ENSP00000322323:A282V	A	+	2	0	FAM20C	304041	1.000000	0.71417	0.958000	0.39756	0.536000	0.34869	4.838000	0.62803	2.439000	0.82584	0.655000	0.94253	GCG		0.627	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223		T	208958	C	T	208958	3	4	3	1	0	0	0	0	1	0	0	0	5539	768	27	1	855	1	FAM20C	7	208958	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		208958	158929705	22	198											
FKBP9	11328	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr7	33028128	33028128	+	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	ttcttttctagctactctcgGaaccgcacgtttgacacgta	8	14	7	12	4	3	1	0	1	3	0	4	2	3	2	1	1	3	4	1	1	4	7			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr7:33028128G>A	ENST00000242209.4	+	6	1072	c.903G>A	c.(901-903)cgG>cgA	p.R301R	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.R163R|FKBP9_ENST00000538336.1_Silent_p.R354R|FKBP9_ENST00000490776.2_Silent_p.R69R|FKBP9_ENST00000489038.1_3'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	301	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTACTCTCGGAACCGCACGT	0.483																																						.											0													130	118	122					7																	33028128		2203	4300	6503	SO:0001819	synonymous_variant	11328			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.903G>A	7.37:g.33028128G>A			B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	CCDS5439.1																																																																																				0.483	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		A	33028128	G	A	33028128	2	1	3	1	0	0	0	0	0	0	0	1	5915	1161	41	3		3	FKBP9	7	33028128	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10	32819170	33028128	126110535	23	199											
UPK3B	80761	hgsc.bcm.edu	37	chr7	76144557	76144557	+	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	tggggctgggggagatggggCgctgggagtgagtgcatggt	5	8	24	4	1	0	2	0	1	0	1	0	4	0	3	0	8	1	3	0	8	0	0	rs376925113		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr7:76144557C>G	ENST00000257632.5	+	4	1080	c.952C>G	c.(952-954)Cgc>Ggc	p.R318G	UPK3B_ENST00000394849.1_Missense_Mutation_p.R263G|UPK3B_ENST00000448265.3_Missense_Mutation_p.R318G|UPK3B_ENST00000443097.2_3'UTR|UPK3B_ENST00000334348.3_3'UTR|UPK3B_ENST00000419923.2_Missense_Mutation_p.R318G			Q9BT76	UPK3B_HUMAN	uroplakin 3B	318					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGAGATGGGGCGCTGGGAGTG	0.697													.|||	1	0.000199681	8e-04	0	5008	,	,		14305	0		0	False		,,,				2504	0					.											0													12	13	13					7																	76144557		2193	4284	6477	SO:0001583	missense	80761			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.952C>G	7.37:g.76144557C>G	ENSP00000257632:p.Arg318Gly		A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	6.900	0.535551	0.13188	.	.	ENSG00000243566	ENST00000419923;ENST00000448265;ENST00000257632;ENST00000394849	T;T;T;T	0.38560	1.13;1.13;1.13;1.21	2.57	-5.13	0.02884	.	1.939240	0.02462	N	0.086707	T	0.20333	0.0489	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	0.12553	-1.0543	10	0.87932	D	0	-0.2282	1.9041	0.03273	0.1404:0.4598:0.1916:0.2082	.	263;318	Q9BT76-2;Q9BT76	.;UPK3B_HUMAN	G	318;318;318;263	ENSP00000441602:R318G;ENSP00000441284:R318G;ENSP00000257632:R318G;ENSP00000378319:R263G	ENSP00000257632:R318G	R	+	1	0	UPK3B	75982493	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.998000	0.01469	-1.903000	0.01093	-0.676000	0.03789	CGC		0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		G	76144557	C	G	76144557	3	3	3	1	0	0	0	0	1	0	0	0	17008	768	27	5	1050	5	UPK3B	7	76144557	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	43116429	76144557	82994106	24	200											
NKX3-1	4824	broad.mit.edu	37	chr8	23538897	23538897	+	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	gctccgaggagagctgctttCgcttagtcttatagcgtctg	6	13	12	10	3	2	1	0	0	2	1	4	3	3	1	1	1	3	4	1	1	3	4			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr8:23538897C>T	ENST00000380871.4	-	2	579	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	NKX3-1_ENST00000523261.1_Missense_Mutation_p.R106Q	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	181					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|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)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GAGCTGCTTTCGCTTAGTCTT	0.582																																						.											0													152	150	151					8																	23538897		2203	4300	6503	SO:0001583	missense	4824				CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.542G>A	8.37:g.23538897C>T	ENSP00000370253:p.Arg181Gln		O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017281	0.93404	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.96396	-4.0;-4.0	5.87	5.87	0.94306	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.56097	D	0.000038	D	0.98353	0.9453	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98842	1.0755	10	0.87932	D	0	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	181	Q99801	NKX31_HUMAN	Q	181;137;106	ENSP00000370253:R181Q;ENSP00000429729:R106Q	ENSP00000300332:R137Q	R	-	2	0	NKX3-1	23594842	0.997000	0.39634	0.997000	0.53966	0.571000	0.35966	7.754000	0.85163	2.941000	0.99782	0.655000	0.94253	CGA		0.582	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			T	23538897	C	T	23538897	3	4	3	1	0	0	0	0	1	0	0	0	10455	884	31	1	166	1	NKX3-1	8	23538897	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		23538897	122825125	25	201											
SCARA5	286133	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	27779572	27779572	+	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	ccctccagccgctgcactgcGcccgccagcgccagcaacga	7	3	10	21	5	0	0	0	0	0	0	1	1	1	0	6	0	6	3	6	0	1	0			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr8:27779572G>A	ENST00000354914.3	-	4	917	c.432C>T	c.(430-432)ggC>ggT	p.G144G	SCARA5_ENST00000518030.1_Silent_p.G101G|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000524352.1_Silent_p.G144G|SCARA5_ENST00000301906.4_Silent_p.G101G	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	144					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)		GCTGCACTGCGCCCGCCAGCG	0.726																																						.											0																																										SO:0001819	synonymous_variant	286133			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.432C>T	8.37:g.27779572G>A			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																				0.726	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		A	27779572	G	A	27779572	2	1	3	1	0	0	0	0	0	0	0	1	13880	1074	38	1		1	SCARA5	8	27779572	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10	4240675	27779572	118584450	26	202											
ADAM2	2515	bcgsc.ca	37	chr8	39694680	39694680	+	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	attcaattccttcctttattAttgaccgtattttctccgga	8	19	4	10	2	2	1	1	1	1	0	5	2	4	2	4	1	0	1	4	1	4	10			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr8:39694680A>T	ENST00000265708.4	-	2	210	c.107T>A	c.(106-108)aTa>aAa	p.I36K	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.I36K|ADAM2_ENST00000379853.2_Missense_Mutation_p.I36K|ADAM2_ENST00000347580.4_Missense_Mutation_p.I36K	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	36					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)		TTCCTTTATTATTGACCGTAT	0.303																																						.											0													75	75	75					8																	39694680		2203	4297	6500	SO:0001583	missense	2515			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.107T>A	8.37:g.39694680A>T	ENSP00000265708:p.Ile36Lys		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	0.042	-1.282486	0.01398	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.01963	5.15;4.53;5.4;5.36	3.83	-4.84	0.03151	.	.	.	.	.	T	0.01387	0.0045	N	0.16656	0.425	0.09310	N	1	B;B;B;B	0.14012	0.004;0.009;0.004;0.004	B;B;B;B	0.18263	0.021;0.005;0.006;0.021	T	0.48305	-0.9047	8	.	.	.	.	6.1222	0.20159	0.3043:0.0:0.5209:0.1748	.	36;36;36;36	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	K	36	ENSP00000343854:I36K;ENSP00000369182:I36K;ENSP00000265708:I36K;ENSP00000429352:I36K	.	I	-	2	0	ADAM2	39813837	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.291000	0.02775	-0.975000	0.03546	0.477000	0.44152	ATA		0.303	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		T	39694680	A	T	39694680	3	4	3	1	0	0	0	0	1	0	0	0	241	449	16	5	2176	5	ADAM2	8	39694680	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	11915108	39694680	106669342	27	203											
DPY19L4	286148	ucsc.edu	37	chr8	95793373	95793373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctatgacccagatacagTggaacttatgacctggataa	14	11	8	8	0	1	3	0	2	1	1	1	5	1	5	2	2	2	0	2	2	5	5			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr8:95793373T>C	ENST00000414645.2	+	16	1793	c.1694T>C	c.(1693-1695)gTg>gCg	p.V565A		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	565						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CCAGATACAGTGGAACTTATG	0.308																																						.											0													70	74	72					8																	95793373		2203	4296	6499	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1694T>C	8.37:g.95793373T>C	ENSP00000389630:p.Val565Ala		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076103	0.76415	.	.	ENSG00000156162	ENST00000414645	T	0.54675	0.56	5.34	4.16	0.48862	.	0.063541	0.64402	D	0.000008	T	0.67998	0.2953	M	0.76170	2.325	0.47214	D	0.999355	D	0.76494	0.999	D	0.73380	0.98	T	0.65175	-0.6232	10	0.20046	T	0.44	-13.497	12.3442	0.55111	0.0:0.0:0.1412:0.8588	.	565	Q7Z388	D19L4_HUMAN	A	565	ENSP00000389630:V565A	ENSP00000389630:V565A	V	+	2	0	DPY19L4	95862549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.415000	0.66411	0.833000	0.34828	0.455000	0.32223	GTG		0.308	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		C	95793373	T	C	95793373	3	2	3	1	0	0	0	0	1	0	0	0	4743	1696	59	2	1756	2	DPY19L4	8	95793373	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	56098693	95793373	50570649	28	204											
PRSS3	5646	mdanderson.org	37	chr9	33796801	33796801	+	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	gcagctcactgctacaagacGtaagtgtggggcccctgact	9	8	12	12	1	1	2	1	1	0	1	1	2	1	2	2	2	3	4	2	2	3	2	rs143707562		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:33796801G>A	ENST00000361005.5	+	2	371		c.e2+1		PRSS3_ENST00000379405.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Splice_Site|PRSS3_ENST00000342836.4_Splice_Site	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						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)			GCTACAAGACGTAAGTGTGGG	0.597													G|||	1	0.000199681	0	0	5008	,	,		18879	0.001		0	False		,,,				2504	0					.											0													70	70	70					9																	33796801		2203	4300	6503	SO:0001630	splice_region_variant	5646				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.371+1G>A	9.37:g.33796801G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654290	0.14580	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	.	.	.	3.21	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1922	0.31374	0.1286:0.0:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS3	33786801	1.000000	0.71417	0.775000	0.31657	0.032000	0.12392	8.277000	0.89896	0.482000	0.27582	0.306000	0.20318	.		0.597	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Intron	A	33796801	G	A	33796801	5	1	3	1	0	0	0	0	0	0	1	0	12622	1159	40	1	422	1	PRSS3	9	33796801	Splice_Site	SNP	G	TCGA-KL-8325-01A-11D-2310-10		33796801	107416630	29	205											
UBQLN1	29979	broad.mit.edu	37	chr9	86322497	86322498	+	Frame_Shift_Ins	INS	-	-	C																															gactttcatgattttgggctINSccgcggaggcagcggccgcg																										TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322497_86322498insC	ENST00000376395.4	-	1	620_621	c.97_98insG	c.(97-99)gagfs	p.E33fs	UBQLN1_ENST00000257468.7_Frame_Shift_Ins_p.E33fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	33					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						GATTTTGGGCTCCGCGGAGGCA	0.673																																					Melanoma(186;1284 2073 12755 14558 18426)	.											0																																										SO:0001589	frameshift_variant	29979			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.98dupG	9.37:g.86322499_86322499dupC	ENSP00000365576:p.Glu33fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Ins	INS	ENST00000376395.4	37	CCDS6663.1																																																																																				0.673	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		C	86322498	-	C	86322497	7	5	3	1	0	1	1	0	0	0	0	0	16893	1551	54	0	1715	0	UBQLN1	9	86322497	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10	52525696	86322497	54890934	30	206	4	5									
UBQLN1	29979	broad.mit.edu	37	chr9	86322500	86322500	+	Frame_Shift_Del	DEL	G	G	-																															ctttcatgattttgggctccGcggaggcagcggccgcgggg																										TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322500delG	ENST00000376395.4	-	1	618	c.95delC	c.(94-96)gcgfs	p.A32fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.A32fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	32					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						TTTGGGCTCCGCGGAGGCAGC	0.672																																					Melanoma(186;1284 2073 12755 14558 18426)	.											0													14	15	15					9																	86322500		2196	4288	6484	SO:0001589	frameshift_variant	29979			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.95delC	9.37:g.86322500delG	ENSP00000365576:p.Ala32fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																				0.672	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		-	86322500	G	-	86322500	7	5	3	1	0	1	0	1	0	0	0	0	16893	1087	38	0	1718	0	UBQLN1	9	86322500	Frame_Shift_Del	DEL	G	TCGA-KL-8325-01A-11D-2310-10	3	86322500	54890931	31	207	4	5									
UBQLN1	29979	bcgsc.ca	37	chr9	86322501	86322501	+	Frame_Shift_Del	DEL	G	G	-																															tttcatgattttgggctccgCggaggcagcggccgcggggg																										TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322501delG	ENST00000376395.4	-	1	617	c.94delC	c.(94-96)ccgfs	p.P32fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.P32fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	32					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						TTGGGCTCCGCGGAGGCAGCG	0.672																																					Melanoma(186;1284 2073 12755 14558 18426)	.											0													14	14	14					9																	86322501		2194	4287	6481	SO:0001589	frameshift_variant	29979			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.94delC	9.37:g.86322501delG	ENSP00000365576:p.Pro32fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																				0.672	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		-	86322501	G	-	86322501	7	5	3	1	0	1	0	1	0	0	0	0	16893	768	27	0	1719	0	UBQLN1	9	86322501	Frame_Shift_Del	DEL	G	TCGA-KL-8325-01A-11D-2310-10	1	86322501	54890930	32	208	4	5									
UBQLN1	29979	broad.mit.edu	37	chr9	86322502	86322505	+	Frame_Shift_Del	DEL	GGAG	GGAG	-																															ttcatgattttgggctccgcGgaggcagcggccgcgggggc																								rs201847758		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	GGAG	GGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322502_86322505delGGAG	ENST00000376395.4	-	1	613_616	c.90_93delCTCC	c.(88-93)gcctccfs	p.AS30fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.AS30fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	30					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						TGGGCTCCGCGGAGGCAGCGGCCG	0.676																																					Melanoma(186;1284 2073 12755 14558 18426)	.											0																																										SO:0001589	frameshift_variant	29979			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.90_93delCTCC	9.37:g.86322502_86322505delGGAG	ENSP00000365576:p.Ala30fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																				0.676	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		-	86322505	GGAG	-	86322502	7	5	3	1	0	1	0	1	0	0	0	0	16893	1103	39	0	1720	0	UBQLN1	9	86322502	Frame_Shift_Del	DEL	GGAG	TCGA-KL-8325-01A-11D-2310-10	1	86322502	54890929	33	209	4	5									
UBQLN1	29979	bcgsc.ca	37	chr9	86322503	86322506	+	Frame_Shift_Del	DEL	GGAG	GGAG	-																															tcatgattttgggctccgcgGaggcagcggccgcgggggcg																										TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	GGAG	GGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:86322503_86322506delGGAG	ENST00000376395.4	-	1	612_615	c.89_92delCTCC	c.(88-93)gctcccfs	p.AP30fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.AP30fs|RP11-522I20.3_ENST00000531661.1_RNA|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	30					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						GGGCTCCGCGGAGGCAGCGGCCGC	0.676																																					Melanoma(186;1284 2073 12755 14558 18426)	.											0																																										SO:0001589	frameshift_variant	29979			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.89_92delCTCC	9.37:g.86322503_86322506delGGAG	ENSP00000365576:p.Ala30fs		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																				0.676	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		-	86322506	GGAG	-	86322503	7	5	3	1	0	1	0	1	0	0	0	0	16893	1174	41	0	1721	0	UBQLN1	9	86322503	Frame_Shift_Del	DEL	GGAG	TCGA-KL-8325-01A-11D-2310-10	1	86322503	54890928	34	210	4	5									
INVS	27130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	103004868	103004868	+	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	tcaggccatgcacagattgtCcatctccttttagaaagaaa	13	11	7	10	0	2	3	1	0	1	3	4	3	3	3	3	1	1	1	3	1	3	3			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr9:103004868C>T	ENST00000262457.2	+	7	998	c.813C>T	c.(811-813)gtC>gtT	p.V271V	INVS_ENST00000541287.1_Silent_p.V175V|INVS_ENST00000262456.2_Silent_p.V271V	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	271					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CACAGATTGTCCATCTCCTTT	0.343																																						.											0													108	110	110					9																	103004868		2203	4300	6503	SO:0001819	synonymous_variant	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.813C>T	9.37:g.103004868C>T			A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	CCDS6746.1																																																																																				0.343	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		T	103004868	C	T	103004868	2	4	3	1	0	0	0	0	0	0	0	1	7787	842	30	3		3	INVS	9	103004868	Silent	SNP	C	TCGA-KL-8325-01A-11D-2310-10	16682365	103004868	38208563	35	211											
ITGA8	8516	broad.mit.edu;bcgsc.ca	37	chr10	15719635	15719635	+	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	ctcccacaataaggtctccaTtctacaaaacagaaacagca	17	7	4	13	0	2	1	0	0	2	1	4	1	3	1	2	1	4	1	2	1	6	3			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr10:15719635T>C	ENST00000378076.3	-	6	985	c.632A>G	c.(631-633)aAt>aGt	p.N211S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	211					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						AAGGTCTCCATTCTACAAAAC	0.368																																						.											0													116	107	110					10																	15719635		2203	4300	6503	SO:0001630	splice_region_variant	8516			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.631-1A>G	10.37:g.15719635T>C			B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285795	0.40394	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.22134	1.97	5.58	4.45	0.53987	.	0.185108	0.64402	N	0.000019	T	0.18923	0.0454	N	0.24115	0.695	0.45035	D	0.998057	P;P	0.48694	0.914;0.86	P;B	0.46825	0.528;0.328	T	0.01464	-1.1348	10	0.49607	T	0.09	.	11.4986	0.50424	0.0:0.0704:0.0:0.9296	.	211;211	F5H818;P53708	.;ITA8_HUMAN	S	211	ENSP00000367316:N211S	ENSP00000367316:N211S	N	-	2	0	ITGA8	15759641	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.590000	0.67530	0.955000	0.37878	0.455000	0.32223	AAT		0.368	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	Missense_Mutation	C	15719635	T	C	15719635	5	2	3	1	0	0	0	0	0	0	1	0	7882	1507	52	4	2659	4	ITGA8	10	15719635	Splice_Site	SNP	T	TCGA-KL-8325-01A-11D-2310-10		15719635	119815112	36	212											
ACTA2	59	ucsc.edu	37	chr10	90701565	90701565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcgtccagaggcatagAgagacagcaccgcctggata	11	7	13	10	2	0	3	0	0	0	3	1	5	1	4	3	2	2	2	3	2	2	3			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr10:90701565A>G	ENST00000458208.1	-	5	905	c.431T>C	c.(430-432)cTc>cCc	p.L144P	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.L144P	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	144					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)		AGAGGCATAGAGAGACAGCAC	0.532																																						.											0													60	51	54					10																	90701565		2203	4300	6503	SO:0001583	missense	59			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.431T>C	10.37:g.90701565A>G	ENSP00000402373:p.Leu144Pro		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.462891	0.63513	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901;ENST00000415557;ENST00000458159	D;D;D;D	0.97850	-4.57;-4.57;-3.65;-3.65	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	D	0.99420	0.9795	H	0.99940	5	0.80722	D	1	P	0.38642	0.641	P	0.57152	0.814	D	0.97506	1.0063	10	0.87932	D	0	.	14.628	0.68635	1.0:0.0:0.0:0.0	.	144	P62736	ACTA_HUMAN	P	144;144;99;144;144	ENSP00000224784:L144P;ENSP00000402373:L144P;ENSP00000396730:L144P;ENSP00000398239:L144P	ENSP00000224784:L144P	L	-	2	0	ACTA2	90691545	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.395000	0.79876	2.192000	0.70111	0.533000	0.62120	CTC		0.532	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		G	90701565	A	G	90701565	3	3	3	1	0	0	0	0	1	0	0	0	192	304	11	2	722	2	ACTA2	10	90701565	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	74981930	90701565	44833182	37	213											
MUC6	4588	mdanderson.org	37	chr11	1017710	1017710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggtgtgtggaggaagtGtgtgaatgtagggatgtaga	10	11	19	1	0	0	2	0	1	0	1	0	5	0	5	0	4	0	3	0	4	4	2	rs113964902		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:1017710G>T	ENST00000421673.2	-	31	5141	c.5091C>A	c.(5089-5091)caC>caA	p.H1697Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1697	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)		TGGAGGAAGTGTGTGAATGTA	0.552																																						.											0								T	GLN/HIS	175,4229	48.2+/-83.0	0,175,2027	827	810	816		5091	-2.9	0	11	dbSNP_132	816	52,8538	4.3+/-15.6	0,52,4243	yes	missense	MUC6	NM_005961.2	24	0,227,6270	TT,TG,GG		0.6054,3.9737,1.747	benign	1697/2440	1017710	227,12767	2202	4295	6497	SO:0001583	missense	4588			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.5091C>A	11.37:g.1017710G>T	ENSP00000406861:p.His1697Gln		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.248714	0.00268	0.039737	0.006054	ENSG00000184956	ENST00000421673	T	0.18657	2.2	1.46	-2.91	0.05631	.	.	.	.	.	T	0.01320	0.0043	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13072	-1.0523	9	0.05525	T	0.97	.	3.8678	0.09024	0.2346:0.0:0.4719:0.2935	.	1697	Q6W4X9	MUC6_HUMAN	Q	1697	ENSP00000406861:H1697Q	ENSP00000406861:H1697Q	H	-	3	2	MUC6	1007710	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-7.346000	0.00038	-4.248000	0.00062	-3.681000	0.00024	CAC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017710	G	T	1017710	3	4	3	1	0	0	0	0	1	0	0	0	9980	1368	48	5	2240	5	MUC6	11	1017710	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10		1017710	133988806	38	214											
MMP26	56547	ucsc.edu	37	chr11	5010912	5010912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcctgaccaagaaggAgtcgccactccttacccagg	10	10	8	13	1	0	2	0	1	0	1	3	3	2	3	5	2	1	0	5	2	3	3			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:5010912A>G	ENST00000380390.1	+	3	350	c.134A>G	c.(133-135)gAg>gGg	p.E45G	MMP26_ENST00000300762.1_Missense_Mutation_p.E45G|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	45					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ACCAAGAAGGAGTCGCCACTC	0.463																																						.											0													58	50	53					11																	5010912		2201	4298	6499	SO:0001583	missense	56547			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.134A>G	11.37:g.5010912A>G	ENSP00000369753:p.Glu45Gly		Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621616	0.46736	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.38077	1.16;1.16	3.73	2.56	0.30785	Metallopeptidase, catalytic domain (1);	40.292300	0.00166	U	0.000011	T	0.32734	0.0839	L	0.50333	1.59	0.09310	N	1	P	0.43477	0.808	B	0.33799	0.17	T	0.31641	-0.9936	10	0.59425	D	0.04	-8.2391	7.0247	0.24934	0.7669:0.2331:0.0:0.0	.	45	Q9NRE1	MMP26_HUMAN	G	45	ENSP00000369753:E45G;ENSP00000300762:E45G	ENSP00000300762:E45G	E	+	2	0	MMP26	4967488	0.446000	0.25665	0.120000	0.21714	0.348000	0.29142	0.970000	0.29383	0.309000	0.22966	0.455000	0.32223	GAG		0.463	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		G	5010912	A	G	5010912	3	3	3	1	0	0	0	0	1	0	0	0	9663	304	11	2	140	2	MMP26	11	5010912	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	3993202	5010912	129995604	39	215											
MRGPRX3	117195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	18159150	18159150	+	Missense_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	catctggtaccactgccgccGccccagatacctgtcatcag	8	8	8	17	2	3	1	2	0	1	1	3	1	3	1	6	1	3	1	6	1	2	2	rs139790666	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:18159150G>A	ENST00000396275.2	+	3	762	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CACTGCCGCCGCCCCAGATAC	0.572													g|||	2	0.000399361	0	0	5008	,	,		19932	0		0.002	False		,,,				2504	0					.											0								G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	118	111	113		401	-2.9	0	11	dbSNP_134	113	4,8582	3.7+/-12.6	0,4,4289	yes	missense	MRGPRX3	NM_054031.3	29	0,5,6488	AA,AG,GG		0.0466,0.0227,0.0385	probably-damaging	134/323	18159150	5,12981	2200	4293	6493	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.401G>A	11.37:g.18159150G>A	ENSP00000379571:p.Arg134His		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	13.44	2.237392	0.39498	2.27E-4	4.66E-4	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.39787	1.06;1.06	1.46	-2.9	0.05648	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.58293	0.2112	M	0.90252	3.1	0.09310	N	0.999997	D	0.55800	0.973	P	0.60068	0.868	T	0.54649	-0.8262	10	0.62326	D	0.03	.	7.087	0.25264	0.3591:0.0:0.6409:0.0	.	134	Q96LB0	MRGX3_HUMAN	H	134	ENSP00000379571:R134H;ENSP00000436242:R134H	ENSP00000379571:R134H	R	+	2	0	MRGPRX3	18115726	0.029000	0.19370	0.002000	0.10522	0.003000	0.03518	2.129000	0.42055	-0.874000	0.04027	-1.179000	0.01719	CGC		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		A	18159150	G	A	18159150	3	1	3	1	0	0	0	0	1	0	0	0	9768	1087	38	1	403	1	MRGPRX3	11	18159150	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	13148238	18159150	116847366	40	216											
OR5M1	390168	broad.mit.edu	37	chr11	56380362	56380363	+	Frame_Shift_Del	DEL	TT	TT	-																															tgaagagagagcttgagagaTtaaagcctgcaactacaaac																								rs186713638	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:56380362_56380363delTT	ENST00000526538.1	-	1	615_616	c.616_617delAA	c.(616-618)aatfs	p.N206fs		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	206						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GCTTGAGAGATTAAAGCCTGCA	0.441																																						.											0																																										SO:0001589	frameshift_variant	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.616_617delAA	11.37:g.56380362_56380363delTT	ENSP00000435416:p.Asn206fs		Q6IF60|Q96RB6	Frame_Shift_Del	DEL	ENST00000526538.1	37	CCDS53631.1																																																																																				0.441	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		-	56380363	TT	-	56380362	7	5	3	1	0	1	0	1	0	0	0	0	11172	1493	52	0	334	0	OR5M1	11	56380362	Frame_Shift_Del	DEL	TT	TCGA-KL-8325-01A-11D-2310-10	38221212	56380362	78626154	41	217											
NCAPD3	23310	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	134073605	134073605	+	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	tggtaacagtcaactccagaCagtgtgcaaagctggacagt	13	8	11	9	0	1	1	1	0	0	1	2	2	2	2	1	2	4	3	1	2	3	1	rs146266771	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr11:134073605C>T	ENST00000534548.2	-	11	1476	c.1412G>A	c.(1411-1413)tGt>tAt	p.C471Y		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	471					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)		CAACTCCAGACAGTGTGCAAA	0.488																																						.											0													62	61	62					11																	134073605		2201	4297	6498	SO:0001583	missense	23310			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.1412G>A	11.37:g.134073605C>T	ENSP00000433681:p.Cys471Tyr		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369032	0.61624	.	.	ENSG00000151503	ENST00000534548	T	0.65178	-0.14	5.88	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.085655	0.85682	D	0.000000	T	0.70228	0.3200	M	0.76328	2.33	0.80722	D	1	D	0.59357	0.985	P	0.49528	0.614	T	0.72290	-0.4337	10	0.37606	T	0.19	-15.444	17.0555	0.86532	0.0:0.873:0.127:0.0	.	471	P42695	CNDD3_HUMAN	Y	471	ENSP00000433681:C471Y	ENSP00000431612:C471Y	C	-	2	0	NCAPD3	133578815	1.000000	0.71417	0.737000	0.30932	0.704000	0.40688	6.297000	0.72757	1.461000	0.47929	0.655000	0.94253	TGT		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134073605	C	T	134073605	3	4	3	1	0	0	0	0	1	0	0	0	10206	478	17	4	3184	4	NCAPD3	11	134073605	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	77693243	134073605	932911	42	218											
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	2783696	2783696	+	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	caaggggctgaggatcctttCcgccctgcagggaacctaga	9	7	13	12	1	0	2	0	1	0	1	2	4	2	4	4	4	2	2	4	4	3	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:2783696C>T	ENST00000344100.3	+	39	4839	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Silent_p.F1591F|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399595.1_Silent_p.F1580F|CACNA1C_ENST00000399637.1_Silent_p.F1591F|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399591.1_Silent_p.F1580F|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399621.1_Silent_p.F1591F|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399649.1_Silent_p.F1578F|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C-AS2_ENST00000545526.1_RNA			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1623					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)	AGGATCCTTTCCGCCCTGCAG	0.602																																						.											0													19	25	23					12																	2783696		2155	4255	6410	SO:0001819	synonymous_variant	775			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	ENST00000344100.3:c.4839C>T	12.37:g.2783696C>T			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	Silent	SNP	ENST00000344100.3	37	CCDS44792.1																																																																																				0.602	CACNA1C-021	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317040.1	NM_000719		T	2783696	C	T	2783696	2	4	3	1	0	0	0	0	0	0	0	1	2540	854	30	3		3	CACNA1C	12	2783696	Silent	SNP	C	TCGA-KL-8325-01A-11D-2310-10		2783696	131068199	43	219											
APOBEC1	339	broad.mit.edu;mdanderson.org	37	chr12	7802197	7802197	+	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	gtagctaaaaggatgtgtggCggaatcgtttggtaatggca	11	11	15	4	2	0	0	0	0	0	0	1	2	0	2	0	5	1	5	0	5	5	4			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:7802197C>T	ENST00000229304.4	-	5	677	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	219					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGATGTGTGGCGGAATCGTTT	0.408																																					Pancreas(135;929 1826 4531 10527 41012)	.											0													177	160	166					12																	7802197		2203	4300	6503	SO:0001819	synonymous_variant	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.657G>A	12.37:g.7802197C>T			Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	CCDS8579.1																																																																																				0.408	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		T	7802197	C	T	7802197	2	4	3	1	0	0	0	0	0	0	0	1	787	755	27	1		1	APOBEC1	12	7802197	Silent	SNP	C	TCGA-KL-8325-01A-11D-2310-10	5018501	7802197	126049698	44	220											
PRH2	5555	broad.mit.edu	37	chr12	11083460	11083461	+	Frame_Shift_Ins	INS	-	-	C																															caccccaacagggaggccatINSccccctcctcctcaaggaag																										TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:11083460_11083461insC	ENST00000396400.3	+	3	338_339	c.300_301insC	c.(301-303)cccfs	p.P101fs	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Frame_Shift_Ins_p.P101fs	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	101						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						AGGGAGGCCATCCCCCTCCTCC	0.644																																						.											0																																										SO:0001589	frameshift_variant	5555				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.305dupC	12.37:g.11083465_11083465dupC	ENSP00000379682:p.Pro101fs		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Frame_Shift_Ins	INS	ENST00000396400.3	37	CCDS8636.1																																																																																				0.644	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		C	11083461	-	C	11083460	7	5	3	1	0	1	1	0	0	0	0	0	12483	1432	50	0	310	0	PRH2	12	11083460	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10	3281263	11083460	122768435	45	221											
TAS2R30	259293	mdanderson.org	37	chr12	11286797	11286797	+	Missense_Mutation	SNP	A	A	G																															caaaatttccaataacaaatAtaaccactattagaatggaa																										TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:11286797A>G	ENST00000539585.1	-	1	446	c.47T>C	c.(46-48)aTa>aCa	p.I16T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	16					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						AATAACAAATATAACCACTAT	0.328																																						.											0													37	36	36					12																	11286797		1857	4109	5966	SO:0001583	missense	259293			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.47T>C	12.37:g.11286797A>G	ENSP00000444736:p.Ile16Thr		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	3.387	-0.125111	0.06795	.	.	ENSG00000256188	ENST00000539585	T	0.43294	0.95	3.32	-6.27	0.02026	.	.	.	.	.	T	0.17323	0.0416	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20638	-1.0269	9	0.21540	T	0.41	.	1.1532	0.01790	0.4816:0.113:0.1571:0.2483	.	16	P59541	T2R30_HUMAN	T	16	ENSP00000444736:I16T	ENSP00000444736:I16T	I	-	2	0	TAS2R30	11178064	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.252000	0.08806	-0.959000	0.03618	-0.756000	0.03474	ATA		0.328	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		G	11286797	A	G	11286797	3	3	3	1	0	0	0	0	1	0	0	0	15570	449	16	4	916	4	TAS2R30	12	11286797	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	203337	11286797	122565098	46	222	5	2	1	2		3	2	24	N	T_A	4.903497e-05
TAS2R30	259293	mdanderson.org	37	chr12	11286807	11286807	+	Missense_Mutation	SNP	T	T	C																															aataacaaatataaccactaTtagaatggaaaaaatgatgg																								rs113282241		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:11286807T>C	ENST00000539585.1	-	1	436	c.37A>G	c.(37-39)Ata>Gta	p.I13V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	13					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						ATAACCACTATTAGAATGGAA	0.333																																						.											0													34	32	33					12																	11286807		1831	4096	5927	SO:0001583	missense	259293			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.37A>G	12.37:g.11286807T>C	ENSP00000444736:p.Ile13Val		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.759083	0.00657	.	.	ENSG00000256188	ENST00000539585	T	0.37058	1.22	3.32	-6.48	0.01896	.	.	.	.	.	T	0.11067	0.0270	N	0.10707	0.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34254	-0.9836	9	0.05351	T	0.99	.	3.7014	0.08384	0.4494:0.2835:0.0:0.2671	.	13	P59541	T2R30_HUMAN	V	13	ENSP00000444736:I13V	ENSP00000444736:I13V	I	-	1	0	TAS2R30	11178074	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.625000	0.00059	-0.746000	0.04766	-1.972000	0.00464	ATA		0.333	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		C	11286807	T	C	11286807	3	2	3	1	0	0	0	0	1	0	0	0	15570	1493	52	4	926	4	TAS2R30	12	11286807	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10	10	11286807	122565088	47	223	5	2	1	2		3	2	24	N	T_A	4.903497e-05
TAS2R30	259293	mdanderson.org	37	chr12	11286820	11286820	+	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	accactattagaatggaaaaAatgatgggcagaaaagttat	19	9	9	4	0	0	3	0	1	0	2	0	4	0	4	1	2	0	2	1	2	9	3	rs111958076		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr12:11286820A>T	ENST00000539585.1	-	1	423	c.24T>A	c.(22-24)atT>atA	p.I8I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	8					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						GAATGGAAAAAATGATGGGCA	0.328																																						.											0													30	28	29					12																	11286820		1816	4079	5895	SO:0001819	synonymous_variant	259293			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.24T>A	12.37:g.11286820A>T			Q645X7	Silent	SNP	ENST00000539585.1	37	CCDS53750.1																																																																																				0.328	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		T	11286820	A	T	11286820	2	4	3	1	0	0	0	0	0	0	0	1	15570	10	1	5		5	TAS2R30	12	11286820	Silent	SNP	A	TCGA-KL-8325-01A-11D-2310-10	13	11286820	122565075	48	224			1	2		3	2	24	N	T_A	4.903497e-05
PCDH20	64881	broad.mit.edu;mdanderson.org	37	chr13	61989199	61989199	+	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	gtgctgctcctgggacgatgTagacgccccatatccaggcg	7	8	13	13	3	0	1	0	0	0	1	2	3	2	2	4	2	2	3	4	2	2	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr13:61989199T>G	ENST00000409186.1	-	4	2198	c.93A>C	c.(91-93)ctA>ctC	p.L31L	PCDH20_ENST00000409204.4_Silent_p.L31L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	31					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGGACGATGTAGACGCCCCA	0.642																																						.											0													33	28	30					13																	61989199		2203	4298	6501	SO:0001819	synonymous_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.93A>C	13.37:g.61989199T>G			A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																				0.642	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		G	61989199	T	G	61989199	2	3	3	1	0	0	0	0	0	0	0	1	11515	1625	57	5		5	PCDH20	13	61989199	Silent	SNP	T	TCGA-KL-8325-01A-11D-2310-10		61989199	53180679	49	225											
PLEKHH1	57475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	68052685	68052685	+	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	cagcaagtgcacatcacttaCccctactcttcagtgacaac	12	9	5	15	0	3	1	2	1	1	0	3	1	3	1	2	0	5	2	2	0	4	3			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr14:68052685C>A	ENST00000329153.5	+	28	3936	c.3804C>A	c.(3802-3804)taC>taA	p.Y1268*	PLEKHH1_ENST00000417684.2_Nonsense_Mutation_p.Y133*	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					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)		ACATCACTTACCCCTACTCTT	0.498																																						.											0													250	248	249					14																	68052685		2023	4187	6210	SO:0001587	stop_gained	57475			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.3804C>A	14.37:g.68052685C>A	ENSP00000330278:p.Tyr1268*		A6H8X6|Q6PJL4|Q6ZWC7	Nonsense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	43	9.867434	0.99283	.	.	ENSG00000054690	ENST00000329153;ENST00000417684	.	.	.	5.53	1.65	0.23941	.	0.122742	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8137	0.40840	0.0:0.5563:0.0:0.4437	.	.	.	.	X	1268;133	.	ENSP00000330278:Y1268X	Y	+	3	2	PLEKHH1	67122438	0.604000	0.26932	0.999000	0.59377	0.998000	0.95712	-0.064000	0.11636	0.132000	0.18615	0.655000	0.94253	TAC		0.498	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		A	68052685	C	A	68052685	4	1	3	1	0	0	0	0	0	1	0	0	12076	518	18	5	3910	5	PLEKHH1	14	68052685	Nonsense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		68052685	39296855	50	226											
STON2	85439	broad.mit.edu	37	chr14	81737175	81737175	+	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	aggcacttcccggtcagagcCgagttcaaggtggcaaaaga	12	6	13	10	2	2	2	2	0	0	2	3	3	3	2	2	4	1	3	2	4	3	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr14:81737175C>T	ENST00000267540.2	-	5	2652	c.2452G>A	c.(2452-2454)Ggc>Agc	p.G818S	STON2_ENST00000555447.1_Missense_Mutation_p.G818S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	818	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CGGTCAGAGCCGAGTTCAAGG	0.498																																						.											0													99	85	90					14																	81737175		2203	4300	6503	SO:0001583	missense	85439			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.2452G>A	14.37:g.81737175C>T	ENSP00000267540:p.Gly818Ser		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381129	0.95945	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.18338	2.22;2.22	5.79	5.79	0.91817	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	L	0.39633	1.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01397	-1.1365	10	0.49607	T	0.09	-28.5503	20.0371	0.97565	0.0:1.0:0.0:0.0	.	818;818	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	818;830;818	ENSP00000450857:G818S;ENSP00000267540:G818S	ENSP00000267540:G818S	G	-	1	0	STON2	80806928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.231000	0.78106	2.734000	0.93682	0.655000	0.94253	GGC		0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		T	81737175	C	T	81737175	3	4	3	1	0	0	0	0	1	0	0	0	15317	652	23	1	267	1	STON2	14	81737175	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	13684490	81737175	25612365	51	227											
MAP1A	4130	hgsc.bcm.edu;bcgsc.ca	37	chr15	43819747	43819747	+	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	ctcctatctcacccaagagcCtccagtctgacactccaacc	10	8	4	19	0	2	2	1	1	2	1	6	2	5	2	6	0	2	0	6	0	3	1			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr15:43819747C>T	ENST00000300231.5	+	4	6526	c.6076C>T	c.(6076-6078)Ctc>Ttc	p.L2026F	MAP1A_ENST00000382031.1_Missense_Mutation_p.L2264F|MAP1A_ENST00000399453.1_Missense_Mutation_p.L2026F			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2026					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCCAAGAGCCTCCAGTCTGA	0.607																																						.											0													62	66	65					15																	43819747		2022	4187	6209	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6076C>T	15.37:g.43819747C>T	ENSP00000300231:p.Leu2026Phe		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025026	0.35701	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01446	4.88;4.88;4.88	4.9	2.89	0.33648	.	0.590783	0.12936	N	0.426958	T	0.02767	0.0083	L	0.32530	0.975	0.24938	N	0.991877	P	0.45176	0.852	P	0.50896	0.653	T	0.45469	-0.9259	10	0.12430	T	0.62	-5.1836	10.2687	0.43470	0.354:0.646:0.0:0.0	.	2026	P78559	MAP1A_HUMAN	F	2264;2026;2026	ENSP00000371462:L2264F;ENSP00000382380:L2026F;ENSP00000300231:L2026F	ENSP00000300231:L2026F	L	+	1	0	MAP1A	41607039	0.295000	0.24389	0.952000	0.39060	0.993000	0.82548	0.962000	0.29280	1.249000	0.43950	0.655000	0.94253	CTC		0.607	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43819747	C	T	43819747	3	4	3	1	0	0	0	0	1	0	0	0	9227	681	24	4	6078	4	MAP1A	15	43819747	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		43819747	58711645	52	228											
GALK2	2585	broad.mit.edu	37	chr15	49493438	49493438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagcaccaggaagagtcAacataataggtatttcaaaa	17	9	8	7	1	2	1	2	0	0	1	3	3	2	2	1	2	2	2	1	2	7	5			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr15:49493438A>G	ENST00000560031.1	+	2	440	c.133A>G	c.(133-135)Aac>Gac	p.N45D	GALK2_ENST00000559454.1_Missense_Mutation_p.N21D|GALK2_ENST00000327171.3_Missense_Mutation_p.N34D|GALK2_ENST00000544523.1_Missense_Mutation_p.N21D|GALK2_ENST00000396509.2_Missense_Mutation_p.N21D|GALK2_ENST00000543495.1_5'UTR|RN7SL307P_ENST00000490342.2_RNA			Q01415	GALK2_HUMAN	galactokinase 2	45					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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AGGAAGAGTCAACATAATAGG	0.284																																						.											0													65	62	63					15																	49493438		2196	4293	6489	SO:0001583	missense	2585				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.133A>G	15.37:g.49493438A>G	ENSP00000453129:p.Asn45Asp		Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075302	0.76415	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.95238	-3.65;-3.65	5.17	5.17	0.71159	Ribosomal protein S5 domain 2-type fold (1);Galactokinase, conserved site (1);Galactokinase galactose-binding domain (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98842	1.0755	10	0.72032	D	0.01	0.2608	14.2904	0.66273	1.0:0.0:0.0:0.0	.	45;34	Q01415;Q7Z4Q4	GALK2_HUMAN;.	D	34;45;21	ENSP00000316632:N34D;ENSP00000440312:N21D	ENSP00000316632:N34D	N	+	1	0	GALK2	47280730	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.522000	0.67092	2.077000	0.62373	0.379000	0.24179	AAC		0.284	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			G	49493438	A	G	49493438	3	3	3	1	0	0	0	0	1	0	0	0	6204	130	5	4	163	4	GALK2	15	49493438	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	5673691	49493438	53037954	53	229											
ALDH1A3	220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	101427815	101427815	+	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	gtggaggctgcacaggttgcCttccagaggggctcgccatg	6	8	16	11	1	0	1	0	0	0	1	2	2	1	2	3	5	2	4	3	5	0	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr15:101427815C>A	ENST00000329841.5	+	3	775	c.243C>A	c.(241-243)gcC>gcA	p.A81A	RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000346623.6_Silent_p.A81A|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	81					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CACAGGTTGCCTTCCAGAGGG	0.637																																						.											0													83	84	84					15																	101427815		2203	4300	6503	SO:0001819	synonymous_variant	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.243C>A	15.37:g.101427815C>A			Q6NT64	Silent	SNP	ENST00000329841.5	37	CCDS10389.1																																																																																				0.637	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			A	101427815	C	A	101427815	2	1	3	1	0	0	0	0	0	0	0	1	492	668	24	5		5	ALDH1A3	15	101427815	Silent	SNP	C	TCGA-KL-8325-01A-11D-2310-10	51934377	101427815	1103577	54	230											
CLN3	1201	broad.mit.edu	37	chr16	28503050	28503051	+	Frame_Shift_Ins	INS	-	-	C																															tcaccctcggaatccgaaaaINSgcgccgccgcgagcctgcac																								rs374055075		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr16:28503050_28503051insC	ENST00000569430.1	-	3	849_850	c.30_31insG	c.(28-33)cgctttfs	p.F11fs	APOBR_ENST00000328423.5_5'Flank|CLN3_ENST00000395653.4_5'UTR|CLN3_ENST00000567963.1_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000565316.1_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000333496.9_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000357076.5_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000354630.5_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000535392.1_5'UTR|APOBR_ENST00000564831.1_5'Flank|CLN3_ENST00000357806.7_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000568224.1_5'UTR|CLN3_ENST00000357857.9_5'UTR|CLN3_ENST00000360019.2_Frame_Shift_Ins_p.F11fs|CLN3_ENST00000359984.7_Frame_Shift_Ins_p.F11fs|APOBR_ENST00000431282.1_5'Flank|CLN3_ENST00000355477.5_Frame_Shift_Ins_p.F11fs			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	11					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						GAATCCGAAAAGCGCCGCCGCG	0.653											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001589	frameshift_variant	1201			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.30_31insG	16.37:g.28503050_28503051insC	ENSP00000454229:p.Phe11fs	802	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Frame_Shift_Ins	INS	ENST00000569430.1	37	CCDS10632.1																																																																																				0.653	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			C	28503051	-	C	28503050	7	5	3	1	0	1	1	0	0	0	0	0	3543	72	3	0	1345	0	CLN3	16	28503050	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10		28503050	61851703	55	231											
HAS3	3038	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	69148916	69148916	+	Missense_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	atctggctggggcacctctgGccgaaaaaccattgtggtga	9	9	13	10	1	2	1	0	1	2	0	2	2	2	1	3	5	1	2	3	5	2	1			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr16:69148916G>A	ENST00000306560.1	+	4	1565	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.G470D	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	470					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCACCTCTGGCCGAAAAACC	0.532																																						.											0													156	143	147					16																	69148916		2198	4300	6498	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1409G>A	16.37:g.69148916G>A	ENSP00000304440:p.Gly470Asp		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438313	0.83885	.	.	ENSG00000103044	ENST00000306560	T	0.51071	0.72	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76634	-0.2887	10	0.72032	D	0.01	0.7811	19.9192	0.97079	0.0:0.0:1.0:0.0	.	470	O00219	HAS3_HUMAN	D	470	ENSP00000304440:G470D	ENSP00000304440:G470D	G	+	2	0	HAS3	67706417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.882000	0.98803	0.655000	0.94253	GGC		0.532	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		A	69148916	G	A	69148916	3	1	3	1	0	0	0	0	1	0	0	0	6963	1203	42	3	1419	3	HAS3	16	69148916	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	40645866	69148916	21205837	56	232											
LHX1	3975	broad.mit.edu	37	chr17	35297586	35297587	+	Splice_Site	INS	-	-	C																															ccacccccacccccccgcagINSgtgtttcggtaccaaatgcg																								rs199890217		TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr17:35297586_35297587insC	ENST00000254457.5	+	2	1581_1582		c.e2-1		RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|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)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				cccccCCGCAGGTGTTTCGGTA	0.644																																						.											0																																										SO:0001630	splice_region_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.171-1->C	17.37:g.35297586_35297587insC			Q3MIW0	Splice_Site	INS	ENST00000254457.5	37	CCDS11316.1																																																																																				0.644	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568	Intron	C	35297587	-	C	35297586	8	5	3	1	0	1	1	0	0	0	1	0	8770	1014	35	0	176	0	LHX1	17	35297586	Splice_Site	INS	-	TCGA-KL-8325-01A-11D-2310-10		35297586	45897624	57	233											
ACBD4	79777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	43215198	43215198	+	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	agcagctggagcctgagctgGtgagcccagtccccattccc	7	7	12	15	0	0	2	0	2	0	0	2	3	2	3	5	2	5	3	5	2	0	1			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr17:43215198G>A	ENST00000376955.4	+	7	870		c.e7+1		ACBD4_ENST00000586346.1_Splice_Site|ACBD4_ENST00000431281.1_Splice_Site|ACBD4_ENST00000591136.1_Splice_Site|ACBD4_ENST00000321854.8_Splice_Site|ACBD4_ENST00000398322.3_Splice_Site|ACBD4_ENST00000592162.1_Splice_Site|ACBD4_ENST00000591859.1_Splice_Site	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4								fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						GCCTGAGCTGGTGAGCCCAGT	0.607																																						.											0													84	92	89					17																	43215198		2067	4211	6278	SO:0001630	splice_region_variant	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.573+1G>A	17.37:g.43215198G>A			D3DX64|Q8IUT1|Q9H8Q4	Splice_Site	SNP	ENST00000376955.4	37	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718556	0.68844	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6437	0.77029	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACBD4	40570724	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.418000	0.80167	2.294000	0.77228	0.555000	0.69702	.		0.607	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722	Intron	A	43215198	G	A	43215198	5	1	3	1	0	0	0	0	0	0	1	0	124	1275	44	3	634	3	ACBD4	17	43215198	Splice_Site	SNP	G	TCGA-KL-8325-01A-11D-2310-10	7917612	43215198	37980012	58	234											
TTLL6	284076	broad.mit.edu	37	chr17	46882179	46882179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctgctgggcattctgaAgtccgttttgtgcccctggg	3	14	13	11	1	1	1	0	1	1	0	2	1	2	1	3	2	3	4	3	2	1	4			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr17:46882179A>G	ENST00000393382.3	-	2	419	c.278T>C	c.(277-279)cTt>cCt	p.L93P	TTLL6_ENST00000470462.2_5'Flank	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGCATTCTGAAGTCCGTTTTG	0.498											OREG0024527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													75	67	70					17																	46882179		692	1591	2283	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.278T>C	17.37:g.46882179A>G	ENSP00000377043:p.Leu93Pro	942		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	A	1.864	-0.461996	0.04508	.	.	ENSG00000170703	ENST00000440941;ENST00000393382;ENST00000456415;ENST00000418322	.	.	.	5.08	1.37	0.22104	.	0.740636	0.10225	U	0.700467	T	0.41811	0.1175	M	0.65975	2.015	0.18873	N	0.999983	B	0.15141	0.012	B	0.15052	0.012	T	0.46830	-0.9163	9	0.87932	D	0	.	2.7808	0.05360	0.5947:0.0:0.2178:0.1875	.	45	Q8N841	TTLL6_HUMAN	P	93;45;45;95	.	ENSP00000365871:L45P	L	-	2	0	TTLL6	44237178	0.982000	0.34865	0.005000	0.12908	0.002000	0.02628	2.401000	0.44513	0.478000	0.27488	-0.290000	0.09829	CTT		0.498	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		G	46882179	A	G	46882179	3	3	3	1	0	0	0	0	1	0	0	0	16728	72	3	2	2534	2	TTLL6	17	46882179	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	3666981	46882179	34313031	59	235											
SERPINB12	89777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	61223519	61223519	+	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	cagctgcccttggtatggtaCgcttgggtgctagaagtgac	7	11	14	9	1	0	2	0	1	0	1	0	2	0	2	1	3	4	5	1	3	4	5	rs199538877	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr18:61223519C>T	ENST00000269491.1	+	1	127	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R43C	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	43					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGGTATGGTACGCTTGGGTGC	0.453													C|||	2	0.000399361	0.0015	0	5008	,	,		22058	0		0	False		,,,				2504	0					.											0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	196	184	188		127	3.1	1	18		188	0,8600		0,0,4300	yes	missense	SERPINB12	NM_080474.1	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	43/406	61223519	2,13004	2203	4300	6503	SO:0001583	missense	89777			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.127C>T	18.37:g.61223519C>T	ENSP00000269491:p.Arg43Cys		Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	CCDS11984.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.14	1.550237	0.27652	4.54E-4	0.0	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82711	-1.64;-1.64	5.13	3.09	0.35607	Serpin domain (3);	0.311822	0.28388	N	0.015534	D	0.86875	0.6038	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.963;0.966	T	0.76366	-0.2985	10	0.56958	D	0.05	.	4.0413	0.09753	0.1525:0.5687:0.1318:0.147	.	43;43	Q3SYB4;Q96P63	.;SPB12_HUMAN	C	43	ENSP00000269491:R43C;ENSP00000372218:R43C	ENSP00000269491:R43C	R	+	1	0	SERPINB12	59374499	0.002000	0.14202	0.969000	0.41365	0.134000	0.20937	1.015000	0.29963	1.139000	0.42245	0.655000	0.94253	CGC		0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		T	61223519	C	T	61223519	3	4	3	1	0	0	0	0	1	0	0	0	14099	536	19	1	129	1	SERPINB12	18	61223519	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10		61223519	16853729	60	236											
CNDP1	84735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	72238436	72238436	+	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	tgcaggtgaaatgcagagacCaggattttcactcaggaacc	13	8	11	9	0	2	2	2	1	0	1	2	5	2	4	2	3	3	2	2	3	2	2			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr18:72238436C>A	ENST00000358821.3	+	7	1000	c.772C>A	c.(772-774)Cag>Aag	p.Q258K	CNDP1_ENST00000582365.1_Missense_Mutation_p.Q215K	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	258						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ATGCAGAGACCAGGATTTTCA	0.408																																					Melanoma(32;1029 1042 25286 38395 44237)	.											0													195	171	179					18																	72238436		2203	4300	6503	SO:0001583	missense	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.772C>A	18.37:g.72238436C>A	ENSP00000351682:p.Gln258Lys		Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	3.515	-0.098898	0.07010	.	.	ENSG00000150656	ENST00000358821	T	0.54279	0.58	5.82	5.82	0.92795	Peptidase M20, dimerisation (1);	0.177016	0.49916	D	0.000127	T	0.30510	0.0767	N	0.11000	0.08	0.44168	D	0.996974	B	0.32717	0.381	B	0.34242	0.178	T	0.22277	-1.0221	10	0.05620	T	0.96	-22.3205	12.8776	0.57999	0.2657:0.7343:0.0:0.0	.	258	Q96KN2	CNDP1_HUMAN	K	258	ENSP00000351682:Q258K	ENSP00000351682:Q258K	Q	+	1	0	CNDP1	70389416	0.926000	0.31397	0.996000	0.52242	0.822000	0.46500	1.507000	0.35758	2.765000	0.95021	0.591000	0.81541	CAG		0.408	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		A	72238436	C	A	72238436	3	1	3	1	0	0	0	0	1	0	0	0	3593	595	21	5	798	5	CNDP1	18	72238436	Missense_Mutation	SNP	C	TCGA-KL-8325-01A-11D-2310-10	11014917	72238436	5838812	61	237											
MUC16	94025	broad.mit.edu	37	chr19	9054266	9054267	+	Frame_Shift_Ins	INS	-	-	G																															caggcgaagtggatgtctgaINSgggcctttgactggtcttat																										TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:9054266_9054267insG	ENST00000397910.4	-	4	31558_31559	c.31355_31356insC	c.(31354-31356)cctfs	p.P10452fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10454	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						TGGATGTCTGAGGGCCTTTGAC	0.47																																						.											0																																										SO:0001589	frameshift_variant	94025			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.31356dupC	19.37:g.9054269_9054269dupG	ENSP00000381008:p.Pro10452fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	CCDS54212.1																																																																																				0.47	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9054267	-	G	9054266	7	5	3	1	0	1	1	0	0	0	0	0	9973	291	11	0	12491	0	MUC16	19	9054266	Frame_Shift_Ins	INS	-	TCGA-KL-8325-01A-11D-2310-10		9054266	50074717	62	238											
ZNF560	147741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	9578613	9578613	+	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	taatgtgtgtttcaacatttAcagcatggcttgtggagtga	10	15	11	5	0	1	1	1	1	0	0	1	2	1	2	0	2	3	3	0	2	3	5			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:9578613A>T	ENST00000301480.4	-	10	1223	c.1010T>A	c.(1009-1011)gTa>gAa	p.V337E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	337					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.V337A(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCAACATTTACAGCATGGCT	0.393																																						.											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											181	159	166					19																	9578613		2203	4300	6503	SO:0001583	missense	147741			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1010T>A	19.37:g.9578613A>T	ENSP00000301480:p.Val337Glu		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.342909	0.24339	.	.	ENSG00000198028	ENST00000301480	T	0.06933	3.24	1.68	-2.74	0.05932	.	.	.	.	.	T	0.03915	0.0110	L	0.32530	0.975	0.09310	N	1	B	0.30634	0.288	B	0.26416	0.069	T	0.42616	-0.9441	9	0.02654	T	1	.	3.5508	0.07845	0.4454:0.355:0.0:0.1996	.	337	Q96MR9	ZN560_HUMAN	E	337	ENSP00000301480:V337E	ENSP00000301480:V337E	V	-	2	0	ZNF560	9439613	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-1.280000	0.02804	-0.728000	0.04882	0.402000	0.26972	GTA		0.393	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		T	9578613	A	T	9578613	3	4	3	1	0	0	0	0	1	0	0	0	17988	391	14	5	1366	5	ZNF560	19	9578613	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	524347	9578613	49550370	63	239											
ZNF561	93134	broad.mit.edu	37	chr19	9724753	9724753	+	Missense_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	accctgctgaagtgatgaccGtttggttctaggttgtattt	7	16	11	7	1	1	3	0	3	1	0	1	3	1	3	2	2	1	5	2	2	3	6	rs144117005	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:9724753G>A	ENST00000302851.3	-	5	631	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.R21W|ZNF561_ENST00000354661.4_Intron|ZNF561_ENST00000326044.5_Intron	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						AGTGATGACCGTTTGGTTCTA	0.313													g|||	5	0.000998403	0.0023	0	5008	,	,		17928	0.001		0	False		,,,				2504	0.001					.											0								G	TRP/ARG	2,4404	2.1+/-5.4	0,2,2201	124	125	125		268	-3.4	0	19	dbSNP_134	125	0,8600		0,0,4300	no	missense	ZNF561	NM_152289.2	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	90/487	9724753	2,13004	2203	4300	6503	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.268C>T	19.37:g.9724753G>A	ENSP00000303915:p.Arg90Trp		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	2.871	-0.233968	0.05983	4.54E-4	0.0	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000444611	T;T;T	0.08720	3.06;5.67;5.67	1.69	-3.38	0.04883	Krueppel-associated box (3);	.	.	.	.	T	0.04452	0.0122	L	0.47190	1.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32798	-0.9893	9	0.36615	T	0.2	.	4.5719	0.12214	0.3643:0.2443:0.3914:0.0	.	90	Q8N587	ZN561_HUMAN	W	21;90;96	ENSP00000393074:R21W;ENSP00000303915:R90W;ENSP00000392013:R96W	ENSP00000303915:R90W	R	-	1	2	ZNF561	9585753	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.901000	0.00172	-1.810000	0.01230	-1.011000	0.02470	CGG		0.313	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		A	9724753	G	A	9724753	3	1	3	1	0	0	0	0	1	0	0	0	17989	1144	40	1	1200	1	ZNF561	19	9724753	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	146140	9724753	49404230	64	240											
OCEL1	79629	mdanderson.org	37	chr19	17337557	17337557	+	Missense_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	cgacgccccccgcaggacccGcccatcagcccggaaacccc	8	1	9	23	5	1	0	1	0	0	0	1	3	1	2	8	2	2	1	8	2	1	0	rs10425488	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:17337557G>T	ENST00000215061.4	+	2	169	c.125G>T	c.(124-126)cGc>cTc	p.R42L	OCEL1_ENST00000601529.1_Missense_Mutation_p.R42L|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_5'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	42	Pro-rich.		R -> L (in dbSNP:rs10425488).							central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGCAGGACCCGCCCATCAGCC	0.746													G|||	385	0.076877	0.115	0.0836	5008	,	,		10155	0.001		0.0755	False		,,,				2504	0.1002					.											0								G	LEU/ARG	300,3398		14,272,1563	4	6	6		125	3	0.1	19	dbSNP_119	6	480,6968		14,452,3258	no	missense	OCEL1	NM_024578.1	102	28,724,4821	TT,TG,GG		6.4447,8.1125,6.998	possibly-damaging	42/265	17337557	780,10366	1849	3724	5573	SO:0001583	missense	79629			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.125G>T	19.37:g.17337557G>T	ENSP00000215061:p.Arg42Leu			Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	142	0.06501831501831502	54	0.10975609756097561	30	0.08287292817679558	0	0.0	58	0.07651715039577836	G	16.23	3.063736	0.55432	0.081125	0.064447	ENSG00000099330	ENST00000215061	T	0.32988	1.43	3.01	3.01	0.34805	.	0.596543	0.14714	N	0.302724	T	0.00666	0.0022	N	0.19112	0.55	0.80722	P	0.0	D	0.76494	0.999	D	0.79108	0.992	T	0.04855	-1.0922	9	0.39692	T	0.17	-18.151	6.1073	0.20081	0.1412:0.0:0.8588:0.0	rs10425488	42	Q9H607	OCEL1_HUMAN	L	42	ENSP00000215061:R42L	ENSP00000215061:R42L	R	+	2	0	OCEL1	17198557	0.003000	0.15002	0.067000	0.19924	0.403000	0.30841	0.226000	0.17776	2.001000	0.58596	0.491000	0.48974	CGC		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		T	17337557	G	T	17337557	3	4	3	1	0	0	0	0	1	0	0	0	10816	1087	38	5	131	5	OCEL1	19	17337557	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	7612804	17337557	41791426	65	241											
PSG1	5669	mdanderson.org	37	chr19	43383680	43383680	+	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	ctctcctcacctgtgagcagGagccccttccatttgatgcg	6	11	9	15	1	2	2	1	2	1	0	4	3	3	3	5	1	3	1	5	1	0	2	rs1141653	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:43383680G>T	ENST00000436291.2	-	1	170	c.54C>A	c.(52-54)ctC>ctA	p.L18L	PSG1_ENST00000595124.1_Silent_p.L18L|PSG1_ENST00000312439.6_Silent_p.L18L|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000244296.2_Silent_p.L18L|PSG1_ENST00000595356.1_Silent_p.L18L|PSG1_ENST00000403380.3_Silent_p.L18L	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	18					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTGTGAGCAGGAGCCCCTTCC	0.552													.|||	1633	0.326078	0.4614	0.2046	5008	,	,		18648	0.4167		0.1014	False		,,,				2504	0.3671					.											0								G	,,	1275,1745		292,691,527	157	140	146		54,54,54	0.4	0.1	19	dbSNP_86	146	576,4838		45,486,2176	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	,,	337,1177,2703	TT,TG,GG		10.6391,42.2185,21.9469	,,	18/420,18/418,18/427	43383680	1851,6583	1510	2707	4217	SO:0001819	synonymous_variant	5669				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.54C>A	19.37:g.43383680G>T			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	CCDS54275.1																																																																																				0.552	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			T	43383680	G	T	43383680	2	4	3	1	0	0	0	0	0	0	0	1	12653	1161	41	5		5	PSG1	19	43383680	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10	26046123	43383680	15745303	66	242											
SYMPK	8189	bcgsc.ca	37	chr19	46319186	46319186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgtcatccatgctgatgaAgatgcccggggtctcgcact	7	10	12	12	3	2	3	1	2	1	1	5	3	3	3	2	2	2	2	2	2	1	0			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:46319186A>G	ENST00000245934.7	-	26	3854	c.3610T>C	c.(3610-3612)Ttc>Ctc	p.F1204L	RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1204					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)		ATGCTGATGAAGATGCCCGGG	0.687																																						.											0													16	17	17					19																	46319186		2185	4264	6449	SO:0001583	missense	8189			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.3610T>C	19.37:g.46319186A>G	ENSP00000245934:p.Phe1204Leu		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463226	0.84425	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.24	4.24	0.50183	.	0.360544	0.26163	N	0.025976	T	0.36552	0.0971	N	0.24115	0.695	0.39418	D	0.966874	B	0.29037	0.231	B	0.24701	0.055	T	0.40701	-0.9549	9	0.87932	D	0	.	9.7033	0.40200	1.0:0.0:0.0:0.0	.	1204	Q92797	SYMPK_HUMAN	L	1204	.	ENSP00000245934:F1204L	F	-	1	0	SYMPK	51011026	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.177000	0.50871	1.795000	0.52594	0.241000	0.17934	TTC		0.687	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		G	46319186	A	G	46319186	3	3	3	1	0	0	0	0	1	0	0	0	15436	72	3	2	222	2	SYMPK	19	46319186	Missense_Mutation	SNP	A	TCGA-KL-8325-01A-11D-2310-10	2935506	46319186	12809797	67	243											
GLTSCR2	29997	mdanderson.org	37	chr19	48258772	48258772	+	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	gacaagccccgaaggctgggGcggctcaagtgagaaccagg	11	3	16	11	2	1	1	1	1	0	1	1	4	1	1	3	5	2	2	3	5	4	0	rs11083895	byFrequency	TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr19:48258772G>A	ENST00000246802.5	+	9	1259	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	407						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)		GAAGGCTGGGGCGGCTCAAGT	0.716													G|||	2618	0.522764	0.2315	0.5519	5008	,	,		7627	0.5575		0.672	False		,,,				2504	0.7065				Colon(58;613 1041 9473 10089 15241)	.											0								G		1117,1057		287,543,257	1	2	2		1221	2.9	1	19	dbSNP_120	2	4101,1193		1647,807,193	no	coding-synonymous	GLTSCR2	NM_015710.4		1934,1350,450	AA,AG,GG		22.5349,48.6201,30.1285		407/479	48258772	5218,2250	1087	2647	3734	SO:0001819	synonymous_variant	29997			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.1221G>A	19.37:g.48258772G>A			Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	CCDS12705.1																																																																																				0.716	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		A	48258772	G	A	48258772	2	1	3	1	0	0	0	0	0	0	0	1	6475	1190	42	3		3	GLTSCR2	19	48258772	Silent	SNP	G	TCGA-KL-8325-01A-11D-2310-10	1939586	48258772	10870211	68	244											
TOP1	7150	broad.mit.edu	37	chr20	39708803	39708803	+	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	gatataaagccattaaagagAcctcgagatgaggatgagtg	16	8	12	5	1	0	4	0	2	0	2	1	8	0	5	2	1	1	0	2	1	5	3			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr20:39708803A>G	ENST00000361337.2	+	6	664	c.414A>G	c.(412-414)agA>agG	p.R138R		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	138	Lys-rich.				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)			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)	CATTAAAGAGACCTCGAGATG	0.318			T	NUP98	AML*																																	.		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													72	70	71					20																	39708803		2203	4299	6502	SO:0001819	synonymous_variant	7150				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.414A>G	20.37:g.39708803A>G			A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	CCDS13312.1																																																																																				0.318	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			G	39708803	A	G	39708803	2	3	3	1	0	0	0	0	0	0	0	1	16360	272	10	2		2	TOP1	20	39708803	Silent	SNP	A	TCGA-KL-8325-01A-11D-2310-10		39708803	23316717	69	245											
MYT1	4661	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	62839675	62839675	+	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	tgcaggacatgatgacccggGgaaacctgggcctcctggag	9	6	15	11	1	0	2	0	2	0	0	1	5	1	5	4	5	2	1	4	5	1	0			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr20:62839675G>A	ENST00000328439.1	+	7	1490	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.G376R	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)					GATGACCCGGGGAAACCTGGG	0.637																																					GBM(59;481 1041 20555 21139 33705)	.											0													68	62	64					20																	62839675		2203	4300	6503	SO:0001583	missense	4661			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.1126G>A	20.37:g.62839675G>A	ENSP00000327465:p.Gly376Arg		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	19.02	3.746509	0.69418	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.28255	2.57;1.62	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.957	T	0.67245	-0.5719	10	0.87932	D	0	-33.6868	17.157	0.86794	0.0:0.0:1.0:0.0	.	376;376	F5H7M8;Q01538	.;MYT1_HUMAN	R	376	ENSP00000327465:G376R;ENSP00000442412:G376R	ENSP00000327465:G376R	G	+	1	0	MYT1	62310119	1.000000	0.71417	0.926000	0.36857	0.963000	0.63663	9.529000	0.98049	2.051000	0.60960	0.450000	0.29827	GGA		0.637	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62839675	G	A	62839675	3	1	3	1	0	0	0	0	1	0	0	0	10106	1233	43	3	1144	3	MYT1	20	62839675	Missense_Mutation	SNP	G	TCGA-KL-8325-01A-11D-2310-10	23130872	62839675	185845	70	246											
PKDREJ	10343	broad.mit.edu	37	chr22	46657795	46657795	+	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	caatttaggaacaaagaaaaTctatcagagacaatgaagtt	20	9	7	5	0	2	3	1	1	1	2	2	5	2	4	0	1	1	1	0	1	9	4			TCGA-KL-8325-01A-11D-2310-10	TCGA-KL-8325-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fc0e0e8-1b0f-400c-b4cf-126193283695	4ff5a4a6-94f8-4f4c-ae7c-9b1ddb971fb7	g.chr22:46657795T>A	ENST00000253255.5	-	1	1424	c.1425A>T	c.(1423-1425)agA>agT	p.R475S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	475	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)		ACAAAGAAAATCTATCAGAGA	0.393																																						.											0													98	103	101					22																	46657795		2203	4300	6503	SO:0001583	missense	10343			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.1425A>T	22.37:g.46657795T>A	ENSP00000253255:p.Arg475Ser		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084923	0.36758	.	.	ENSG00000130943	ENST00000253255	T	0.71461	-0.57	5.18	0.561	0.17285	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.142710	0.31020	N	0.008419	T	0.77824	0.4188	M	0.62723	1.935	0.33455	D	0.584177	D	0.89917	1.0	D	0.91635	0.999	T	0.78079	-0.2344	10	0.27785	T	0.31	-15.3402	10.8303	0.46656	0.0:0.4797:0.0:0.5203	.	475	Q9NTG1	PKDRE_HUMAN	S	475	ENSP00000253255:R475S	ENSP00000253255:R475S	R	-	3	2	PKDREJ	45036459	0.928000	0.31464	0.128000	0.21923	0.007000	0.05969	-0.015000	0.12634	-0.159000	0.11021	-0.274000	0.10170	AGA		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46657795	T	A	46657795	3	1	3	1	0	0	0	0	1	0	0	0	11970	1432	50	5	5340	5	PKDREJ	22	46657795	Missense_Mutation	SNP	T	TCGA-KL-8325-01A-11D-2310-10		46657795	4646771	71	247											
SPEN	23013	broad.mit.edu	37	chr1	16260459	16260459	+	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	acatgaggccccgcccccgcCagttgactctaaaaagcctt	10	7	8	16	2	1	2	0	2	1	0	1	2	1	2	6	1	1	1	6	1	3	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:16260459C>T	ENST00000375759.3	+	11	7928	c.7724C>T	c.(7723-7725)cCa>cTa	p.P2575L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2575	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGCCCCCGCCAGTTGACTCT	0.522																																						.											0													73	84	81					1																	16260459		2203	4300	6503	SO:0001583	missense	23013				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.7724C>T	1.37:g.16260459C>T	ENSP00000364912:p.Pro2575Leu		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	6.140	0.394125	0.11638	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.38	3.46	0.39613	.	.	.	.	.	T	0.12561	0.0305	L	0.50333	1.59	0.20403	N	0.999907	B	0.24258	0.1	B	0.21708	0.036	T	0.16660	-1.0395	9	0.29301	T	0.29	-0.4291	14.2989	0.66334	0.2718:0.7282:0.0:0.0	.	2575	Q96T58	MINT_HUMAN	L	2575	ENSP00000364912:P2575L	ENSP00000364912:P2575L	P	+	2	0	SPEN	16133046	0.000000	0.05858	0.014000	0.15608	0.688000	0.40055	0.853000	0.27777	0.616000	0.30141	0.561000	0.74099	CCA		0.522	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16260459	C	T	16260459	3	4	4	1	0	0	0	0	1	0	0	0	15037	594	21	4	7766	4	SPEN	1	16260459	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		16260459	232990162	1	248											
SPATA21	374955	broad.mit.edu	37	chr1	16731518	16731518	+	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	gggccagcgtcacagagaagCccattaggagcaggatattc	12	6	13	10	1	1	1	1	0	0	1	2	4	1	3	2	3	3	1	2	3	3	3	rs140528029		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:16731518C>T	ENST00000335496.1	-	8	1237	c.755G>A	c.(754-756)gGc>gAc	p.G252D	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.G229D	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	252							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CACAGAGAAGCCCATTAGGAG	0.587																																						.											0													109	91	97					1																	16731518		2203	4300	6503	SO:0001583	missense	374955				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.755G>A	1.37:g.16731518C>T	ENSP00000335612:p.Gly252Asp		B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	CCDS172.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962510	0.53400	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	D;D	0.84298	-1.83;-1.83	4.53	4.53	0.55603	EF-hand-like domain (1);	0.000000	0.56097	D	0.000032	D	0.92799	0.7710	M	0.88979	2.995	0.40552	D	0.98112	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93990	0.7266	10	0.87932	D	0	-17.4912	12.9323	0.58294	0.0:1.0:0.0:0.0	.	229;252	F5GXP5;Q7Z572	.;SPT21_HUMAN	D	252;229	ENSP00000335612:G252D;ENSP00000440046:G229D	ENSP00000335612:G252D	G	-	2	0	SPATA21	16604105	1.000000	0.71417	0.998000	0.56505	0.294000	0.27393	2.231000	0.43009	2.505000	0.84491	0.313000	0.20887	GGC		0.587	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		T	16731518	C	T	16731518	3	4	4	1	0	0	0	0	1	0	0	0	15006	739	26	3	678	3	SPATA21	1	16731518	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	471059	16731518	232519103	2	249											
AKR7L	246181	mdanderson.org	37	chr1	19600376	19600377	+	RNA	DNP	TT	TT	GC																															tctgcagtcgctgctgcccaTtcggagccccaggccgccaa																								rs565823852|rs539454439	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:19600376_19600377TT>GC	ENST00000429712.1	-	0	311_312				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGCTGCCCATTCGGAGCCCCA	0.673																																						.											0																																												246181					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520	ENST00000429712.1:c.192_193delinsGC	1.37:g.19600376_19600377delinsGC			Q5U614	RNA	DNP	ENST00000429712.1	37																																																																																					0.673	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		GC	19600377	TT	GC	19600376	1	3	4	0	1	0	0	0	0	0	0	0	477	1493	52	5		5	AKR7L	1	19600376	RNA	DNP	TT	TCGA-KL-8326-01A-11D-2310-10	2868858	19600376	229650245	3	250											
SYCP1	6847	broad.mit.edu	37	chr1	115418696	115418696	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttatatttcagaaaatgAtaacagcttttgaggaactt	15	15	6	5	0	1	3	1	2	0	1	1	4	1	4	0	1	3	1	0	1	6	8			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:115418696A>G	ENST00000369522.3	+	10	904	c.664A>G	c.(664-666)Ata>Gta	p.I222V	SYCP1_ENST00000369518.1_Missense_Mutation_p.I222V	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	222					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TCAGAAAATGATAACAGCTTT	0.274																																						.											0													46	49	48					1																	115418696		2203	4294	6497	SO:0001583	missense	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.664A>G	1.37:g.115418696A>G	ENSP00000358535:p.Ile222Val		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	4.011	-0.000587	0.07819	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52295	0.67;0.67;0.67	5.52	0.545	0.17190	.	0.270468	0.43260	N	0.000599	T	0.10594	0.0259	L	0.29908	0.895	0.26560	N	0.973751	B;B	0.19073	0.033;0.033	B;B	0.23574	0.047;0.047	T	0.40739	-0.9547	10	0.02654	T	1	-6.9164	10.4389	0.44452	0.6334:0.0:0.3666:0.0	.	222;222	B7ZLS9;Q15431	.;SYCP1_HUMAN	V	222	ENSP00000358535:I222V;ENSP00000410011:I222V;ENSP00000358531:I222V	ENSP00000358531:I222V	I	+	1	0	SYCP1	115220219	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	0.924000	0.28777	-0.093000	0.12396	-1.162000	0.01777	ATA		0.274	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		G	115418696	A	G	115418696	3	3	4	1	0	0	0	0	1	0	0	0	15428	333	12	4	698	4	SYCP1	1	115418696	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	95818320	115418696	133831925	4	251											
LCE3C	353144	broad.mit.edu	37	chr1	152573449	152573449	+	Missense_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	caggggcagtggtcagcaagGcgggggctcctgccgtggcc	5	5	19	12	2	1	0	1	0	0	0	2	0	2	0	3	7	2	3	3	7	1	0			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:152573449G>A	ENST00000333881.3	+	1	312	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	81					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)		GGTCAGCAAGGCGGGGGCTCC	0.602																																						.											0													34	33	33					1																	152573449		1810	2679	4489	SO:0001583	missense	353144			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.242G>A	1.37:g.152573449G>A	ENSP00000334644:p.Gly81Asp		A1L420	Missense_Mutation	SNP	ENST00000333881.3	37	CCDS1015.1	.	.	.	.	.	.	.	.	.	.	G	1.076	-0.668510	0.03403	.	.	ENSG00000244057	ENST00000333881	T	0.03607	3.87	4.01	3.09	0.35607	.	.	.	.	.	T	0.00524	0.0017	.	.	.	0.09310	N	1	B	0.22146	0.065	B	0.17098	0.017	T	0.44019	-0.9355	8	0.02654	T	1	.	9.2689	0.37659	0.0:0.7629:0.2371:0.0	.	81	Q5T5A8	LCE3C_HUMAN	D	81	ENSP00000334644:G81D	ENSP00000334644:G81D	G	+	2	0	LCE3C	150840073	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	-0.101000	0.10973	0.876000	0.35872	0.313000	0.20887	GGC		0.602	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040061.2	NM_178434		A	152573449	G	A	152573449	3	1	4	1	0	0	0	0	1	0	0	0	8671	1203	42	3	244	3	LCE3C	1	152573449	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	37154753	152573449	96677172	5	252											
SMYD1	150572	broad.mit.edu	37	chr2	88383883	88383883	+	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	ttcaagaggcaggagaagctCcatcgctgtgggcagtgcaa	11	7	14	9	1	1	2	1	0	0	2	3	3	2	2	1	3	2	5	1	3	3	1			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:88383883C>T	ENST00000419482.2	+	2	271	c.186C>T	c.(184-186)ctC>ctT	p.L62L	MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000444564.2_Silent_p.L62L|SMYD1_ENST00000438570.1_Silent_p.L62L|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	62	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)	p.L62L(1)		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						AGGAGAAGCTCCATCGCTGTG	0.512																																						.											1	Substitution - coding silent(1)	ovary(1)											107	91	97					2																	88383883		2203	4300	6503	SO:0001819	synonymous_variant	150572			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.186C>T	2.37:g.88383883C>T			A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																				0.512	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		T	88383883	C	T	88383883	2	4	4	1	0	0	0	0	0	0	0	1	14821	842	30	3		3	SMYD1	2	88383883	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10		88383883	154815490	6	253											
REV1	51455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	100038086	100038086	+	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	tgtctaccagcgcttcatcaCaactgacagcttcaatgtta	11	12	6	12	1	4	1	3	1	1	0	4	1	4	1	1	0	4	3	1	0	4	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:100038086C>T	ENST00000258428.3	-	11	1934	c.1706G>A	c.(1705-1707)tGt>tAt	p.C569Y	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.C568Y	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	569	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCTTCATCACAACTGACAGC	0.438								Direct reversal of damage																														.											0													142	123	129					2																	100038086		2203	4300	6503	SO:0001583	missense	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1706G>A	2.37:g.100038086C>T	ENSP00000258428:p.Cys569Tyr		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283368	0.59867	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.75938	-0.98;-0.98	5.29	5.29	0.74685	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89663	0.3878	10	0.87932	D	0	.	19.2796	0.94048	0.0:1.0:0.0:0.0	.	569;568	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	Y	568;569	ENSP00000377091:C568Y;ENSP00000258428:C569Y	ENSP00000258428:C569Y	C	-	2	0	REV1	99404518	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.206000	0.77891	2.646000	0.89796	0.655000	0.94253	TGT		0.438	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		T	100038086	C	T	100038086	3	4	4	1	0	0	0	0	1	0	0	0	13239	478	17	4	2101	4	REV1	2	100038086	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	11654203	100038086	143161287	7	254											
CREG2	200407	hgsc.bcm.edu	37	chr2	102000023	102000024	+	Missense_Mutation	DNP	GC	GC	TA																															ctccccttctgattctggcaGcatcagcgaggccatggggt																										TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:102000023_102000024GC>TA	ENST00000324768.5	-	2	719_720	c.582_583GC>TA	c.(580-585)atGCtg>atTAtg	p.194_195ML>IM	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	194						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						GATTCTGGCAGCATCAGCGAGG	0.545																																						.											0																																										SO:0001583	missense	200407			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.582_583delinsTA	2.37:g.102000023_102000024delinsTA	ENSP00000315203:p.M194_L195delinsIM		Q86X03|Q8N540|Q8N9E3	Missense_Mutation	DNP	ENST00000324768.5	37	CCDS2052.1																																																																																				0.545	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		TA	102000024	GC	TA	102000023	3	4	4	1	0	0	0	0	1	0	0	0	3865	962	34	5	301	5	CREG2	2	102000023	Missense_Mutation	DNP	GC	TCGA-KL-8326-01A-11D-2310-10	1961937	102000023	141199350	8	255											
LYPD1	116372	ucsc.edu	37	chr2	133427465	133427465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctcacctggaagcaagAacaatccgcaaaaagttgcc	15	8	7	11	1	1	1	1	0	1	1	3	2	2	2	3	1	3	3	3	1	7	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:133427465A>G	ENST00000397463.2	-	1	313	c.41T>C	c.(40-42)tTc>tCc	p.F14S	LYPD1_ENST00000345008.6_Intron|AC010974.3_ENST00000450509.1_RNA	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	14						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						TGGAAGCAAGAACAATCCGCA	0.642																																						.											0													49	57	54					2																	133427465		1998	4158	6156	SO:0001583	missense	116372			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.41T>C	2.37:g.133427465A>G	ENSP00000380605:p.Phe14Ser		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	ENST00000397463.2	37	CCDS42759.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461515	0.43736	.	.	ENSG00000150551	ENST00000409034;ENST00000397463	D	0.82167	-1.58	5.52	3.12	0.35913	.	0.117881	0.38381	N	0.001702	T	0.65312	0.2679	N	0.14661	0.345	0.80722	D	1	B;B	0.27732	0.187;0.018	B;B	0.21360	0.024;0.034	T	0.62329	-0.6877	10	0.87932	D	0	4.0E-4	5.4946	0.16795	0.5665:0.3455:0.088:0.0	.	14;30	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	S	37;14	ENSP00000380605:F14S	ENSP00000380605:F14S	F	-	2	0	LYPD1	133143935	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.260000	0.32968	0.896000	0.36366	0.260000	0.18958	TTC		0.642	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		G	133427465	A	G	133427465	3	3	4	1	0	0	0	0	1	0	0	0	9109	246	9	4	396	4	LYPD1	2	133427465	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	31427442	133427465	109771908	9	256											
ECEL1	9427	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr2	233347864	233347864	+	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	tcagcaggaagtccgggtagCcgaccatcaccatcatgtac	11	7	10	13	2	3	0	3	0	0	0	4	2	4	1	4	2	3	3	4	2	3	2			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:233347864C>T	ENST00000304546.1	-	9	1742	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	ECEL1_ENST00000409941.1_Missense_Mutation_p.G511D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	511					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTCCGGGTAGCCGACCATCAC	0.657																																						.											0													50	33	39					2																	233347864		2203	4299	6502	SO:0001583	missense	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1532G>A	2.37:g.233347864C>T	ENSP00000302051:p.Gly511Asp		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104234	0.94245	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.90563	-2.69;-2.69	5.39	5.39	0.77823	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96550	0.9407	10	0.87932	D	0	-10.712	19.1545	0.93504	0.0:1.0:0.0:0.0	.	511;511	O95672-2;O95672	.;ECEL1_HUMAN	D	511	ENSP00000302051:G511D;ENSP00000386333:G511D	ENSP00000302051:G511D	G	-	2	0	ECEL1	233056108	0.997000	0.39634	0.999000	0.59377	0.932000	0.56968	4.726000	0.61986	2.528000	0.85240	0.563000	0.77884	GGC		0.657	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		T	233347864	C	T	233347864	3	4	4	1	0	0	0	0	1	0	0	0	4891	739	26	3	835	3	ECEL1	2	233347864	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	99920399	233347864	9851509	10	257											
ILKAP	80895	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr2	239090747	239090747	+	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	0	0	0	0	0	0	0	0	tgtatcctcatccgctcttcAtactgagttggattatgctc	7	16	7	11	1	3	1	2	1	1	0	6	2	5	2	2	1	2	4	2	1	3	5			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:239090747A>C	ENST00000254654.3	-	9	970	c.795T>G	c.(793-795)taT>taG	p.Y265*		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	265	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TCCGCTCTTCATACTGAGTTG	0.483																																						.											0													322	282	295					2																	239090747		2203	4300	6503	SO:0001587	stop_gained	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.795T>G	2.37:g.239090747A>C	ENSP00000254654:p.Tyr265*		B3KM39	Nonsense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	A	38	6.662059	0.97743	.	.	ENSG00000132323	ENST00000254654;ENST00000450411	.	.	.	5.37	-3.19	0.05171	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.6221	11.459	0.50199	0.5229:0.0:0.4771:0.0	.	.	.	.	X	265;82	.	ENSP00000254654:Y265X	Y	-	3	2	ILKAP	238755486	0.991000	0.36638	0.835000	0.33067	0.997000	0.91878	0.307000	0.19296	-0.906000	0.03866	0.533000	0.62120	TAT		0.483	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		C	239090747	A	C	239090747	4	2	4	1	0	0	0	0	0	1	0	0	7714	224	8	5	399	5	ILKAP	2	239090747	Nonsense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	5742883	239090747	4108626	11	258											
OXTR	5021	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	8809619	8809619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaacactgccaccaccagGtcggcgatgcttaggtgctt	9	9	11	12	2	0	1	0	1	0	0	1	2	0	1	3	3	4	2	3	3	2	2	rs200886854		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:8809619G>T	ENST00000316793.3	-	3	879	c.255C>A	c.(253-255)gaC>gaA	p.D85E	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	85					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	CCACCACCAGGTCGGCGATGC	0.627																																						.											0													49	45	46					3																	8809619		2203	4300	6503	SO:0001583	missense	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.255C>A	3.37:g.8809619G>T	ENSP00000324270:p.Asp85Glu		Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852767	0.71719	.	.	ENSG00000180914	ENST00000316793;ENST00000449615	D;T	0.87966	-2.32;-0.21	4.73	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93733	0.7997	M	0.91090	3.175	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.93640	0.6964	10	0.87932	D	0	-39.5606	10.1125	0.42572	0.1693:0.0:0.8307:0.0	.	85	P30559	OXYR_HUMAN	E	85	ENSP00000324270:D85E;ENSP00000389587:D85E	ENSP00000324270:D85E	D	-	3	2	OXTR	8784619	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.195000	0.58400	0.987000	0.38709	0.313000	0.20887	GAC		0.627	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			T	8809619	G	T	8809619	3	4	4	1	0	0	0	0	1	0	0	0	11338	1252	44	5	922	5	OXTR	3	8809619	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10		8809619	189212811	12	259											
CELSR3	1951	broad.mit.edu	37	chr3	48694660	48694661	+	Frame_Shift_Ins	INS	-	-	G																															cgaggaagcggcccagcagcINSggtgacaggaagcgctcctg																										TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:48694660_48694661insG	ENST00000164024.4	-	2	4149_4150	c.3869_3870insC	c.(3868-3870)ccgfs	p.P1290fs	CELSR3_ENST00000544264.1_Frame_Shift_Ins_p.P1290fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1290					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCAGCAGCGGTGACAGGAA	0.634																																						.											0																																										SO:0001589	frameshift_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3870dupC	3.37:g.48694662_48694662dupG	ENSP00000164024:p.Pro1290fs		O75092	Frame_Shift_Ins	INS	ENST00000164024.4	37	CCDS2775.1																																																																																				0.634	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		G	48694661	-	G	48694660	7	5	4	1	0	1	1	0	0	0	0	0	3223	755	27	0	6204	0	CELSR3	3	48694660	Frame_Shift_Ins	INS	-	TCGA-KL-8326-01A-11D-2310-10	39885041	48694660	149327770	13	260											
SIDT1	54847	broad.mit.edu	37	chr3	113342326	113342326	+	Missense_Mutation	SNP	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	actttgcttcctacatgctgGgcatcttcatctgtaacctt	7	16	6	12	0	3	0	1	0	2	0	4	0	4	0	2	1	4	4	2	1	2	6			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:113342326G>T	ENST00000264852.4	+	22	2869	c.2143G>T	c.(2143-2145)Ggc>Tgc	p.G715C	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.G720C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	715					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTACATGCTGGGCATCTTCAT	0.567																																						.											0													136	138	138					3																	113342326		2203	4300	6503	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2143G>T	3.37:g.113342326G>T	ENSP00000264852:p.Gly715Cys		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276712	0.95459	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23552	1.9;1.9	5.62	5.62	0.85841	.	0.085246	0.51477	D	0.000099	T	0.47192	0.1432	L	0.61218	1.895	0.80722	D	1	D;D	0.64830	0.99;0.994	P;P	0.62014	0.831;0.897	T	0.21211	-1.0252	10	0.39692	T	0.17	-10.785	18.4243	0.90604	0.0:0.0:1.0:0.0	.	720;715	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	C	715;720	ENSP00000264852:G715C;ENSP00000377416:G720C	ENSP00000264852:G715C	G	+	1	0	SIDT1	114825016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.646000	0.89796	0.655000	0.94253	GGC		0.567	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		T	113342326	G	T	113342326	3	4	4	1	0	0	0	0	1	0	0	0	14302	1232	43	5	2229	5	SIDT1	3	113342326	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	64647666	113342326	84680104	14	261											
BOD1L	259282	broad.mit.edu	37	chr4	13615200	13615200	+	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	acttcctcctcagtatcttcTtcaaaagatgaaaggtcact	12	13	5	11	0	5	2	3	1	2	1	7	2	7	2	2	1	0	1	2	1	4	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr4:13615200T>C	ENST00000040738.5	-	5	1395	c.1260A>G	c.(1258-1260)gaA>gaG	p.E420E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	420	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CAGTATCTTCTTCAAAAGATG	0.388																																						.											0													134	128	130					4																	13615200		2203	4300	6503	SO:0001819	synonymous_variant	259282			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.1260A>G	4.37:g.13615200T>C			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.388	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13615200	T	C	13615200	2	2	4	1	0	0	0	0	0	0	0	1	1483	1606	56	2		2	BOD1L	4	13615200	Silent	SNP	T	TCGA-KL-8326-01A-11D-2310-10		13615200	177539076	15	262											
NHEDC1	150159	mdanderson.org	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-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	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																																						.											0													66	70	68					4																	103822298		1818	3378	5196	SO:0001819	synonymous_variant	150159			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			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	4	1	0	0	0	0	0	0	0	1	10400	564	20	4		4	NHEDC1	4	103822298	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10	90207098	103822298	87331978	16	263											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	126369744	126369744	+	Missense_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	tgaggggagccattatggccGccggaccactaaacggagct	10	6	14	11	3	0	1	0	1	0	0	0	4	0	4	4	5	3	1	4	5	3	2	rs201007539		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr4:126369744G>A	ENST00000394329.3	+	9	7586	c.7573G>A	c.(7573-7575)Gcc>Acc	p.A2525T	FAT4_ENST00000335110.5_Missense_Mutation_p.A823T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2525	Cadherin 24. {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						CATTATGGCCGCCGGACCACT	0.418																																						.											0													65	67	66					4																	126369744		2203	4299	6502	SO:0001583	missense	79633			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.7573G>A	4.37:g.126369744G>A	ENSP00000377862:p.Ala2525Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639072	0.47153	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.48522	0.81;0.81	5.72	4.89	0.63831	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004241	T	0.40694	0.1127	L	0.37561	1.115	0.43338	D	0.995382	D;B;B	0.55605	0.972;0.004;0.003	P;B;B	0.45099	0.469;0.004;0.002	T	0.15521	-1.0434	10	0.15066	T	0.55	.	14.9437	0.71014	0.0685:0.0:0.9315:0.0	.	823;2525;2525	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	2525;823	ENSP00000377862:A2525T;ENSP00000335169:A823T	ENSP00000335169:A823T	A	+	1	0	FAT4	126589194	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.440000	0.52886	1.441000	0.47550	-0.143000	0.13931	GCC		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126369744	G	A	126369744	3	1	4	1	0	0	0	0	1	0	0	0	5692	1087	38	1	7607	1	FAT4	4	126369744	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	22547446	126369744	64784532	17	264											
SPZ1	84654	mdanderson.org	37	chr5	79616400	79616400	+	Missense_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	cttgacaaaatcaatgaaatGttatcaacaaacctgcctgt	16	11	5	9	0	2	2	2	2	0	0	2	2	2	2	2	0	3	1	2	0	7	2	rs200562315	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr5:79616400G>A	ENST00000296739.4	+	1	611	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	122					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M122I(1)		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)		TCAATGAAATGTTATCAACAA	0.368																																						.											1	Substitution - Missense(1)	skin(1)											49	44	45					5																	79616400		1799	4058	5857	SO:0001583	missense	84654				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.366G>A	5.37:g.79616400G>A	ENSP00000369611:p.Met122Ile		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	8.567	0.879064	0.17395	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.39787	1.06;1.62	2.92	-2.42	0.06542	.	.	.	.	.	T	0.17238	0.0414	N	0.05078	-0.115	0.09310	N	1	B	0.20988	0.05	B	0.10450	0.005	T	0.15178	-1.0446	9	0.33940	T	0.23	.	4.398	0.11372	0.5786:0.0:0.2498:0.1716	.	122	Q9BXG8	SPZ1_HUMAN	I	122	ENSP00000426530:M122I;ENSP00000369611:M122I	ENSP00000369611:M122I	M	+	3	0	SPZ1	79652156	0.000000	0.05858	0.000000	0.03702	0.514000	0.34195	-1.754000	0.01816	-0.613000	0.05694	0.313000	0.20887	ATG		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		A	79616400	G	A	79616400	3	1	4	1	0	0	0	0	1	0	0	0	15126	1377	48	4	368	4	SPZ1	5	79616400	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10		79616400	101298860	18	265											
MEGF10	84466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	126776527	126776527	+	Missense_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	ttctgggcagtgtacttgccGcactggattcatgggacggc	6	11	14	10	2	2	0	1	0	1	0	2	2	2	2	1	4	2	3	1	4	1	4	rs565304206	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr5:126776527G>A	ENST00000274473.6	+	19	2597	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	MEGF10_ENST00000503335.2_Missense_Mutation_p.R777H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	777	EGF-like 14. {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)		TGTACTTGCCGCACTGGATTC	0.468													G|||	4	0.000798722	8e-04	0.0014	5008	,	,		21967	0		0	False		,,,				2504	0.002					.											0													146	131	136					5																	126776527		2203	4300	6503	SO:0001583	missense	84466			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.2330G>A	5.37:g.126776527G>A	ENSP00000274473:p.Arg777His		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326208	0.95708	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.29397	1.57;1.57	6.03	6.03	0.97812	EGF-like, laminin (2);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42378	-0.9455	10	0.42905	T	0.14	-41.3444	20.5752	0.99366	0.0:0.0:1.0:0.0	.	777	Q96KG7	MEG10_HUMAN	H	777	ENSP00000423354:R777H;ENSP00000274473:R777H	ENSP00000274473:R777H	R	+	2	0	MEGF10	126804426	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CGC		0.468	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		A	126776527	G	A	126776527	3	1	4	1	0	0	0	0	1	0	0	0	9460	1087	38	1	2396	1	MEGF10	5	126776527	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	47160127	126776527	54138733	19	266											
TRIM15	89870	broad.mit.edu	37	chr6	30139748	30139748	+	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	ggcctcccggcggttctgggCttcccgggcttctcctccgg	0	10	14	17	4	2	0	0	0	2	0	6	0	5	0	5	6	0	3	5	6	0	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:30139748C>T	ENST00000376694.4	+	7	1489	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	340	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGGTTCTGGGCTTCCCGGGCT	0.701																																						.											0													6	7	7					6																	30139748		1498	2677	4175	SO:0001819	synonymous_variant	89870			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.1020C>T	6.37:g.30139748C>T			A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	CCDS4677.1																																																																																				0.701	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		T	30139748	C	T	30139748	2	4	4	1	0	0	0	0	0	0	0	1	16487	784	28	4		4	TRIM15	6	30139748	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10		30139748	140975319	20	267											
HLA-DRB5	3127	mdanderson.org	37	chr6	32497900	32497900	+	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	agcacccacaatgtgcacttAcgtcgggtgtccccagccaa	10	7	9	15	2	0	0	0	0	0	0	2	0	1	0	4	1	4	2	4	1	3	1	rs78612727	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:32497900A>G	ENST00000374975.3	-	1	163		c.e1+1			NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ATGTGCACTTACGTCGGGTGT	0.522																																						.											0													99	102	101					6																	32497900		2203	4300	6503	SO:0001630	splice_region_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.100+1T>C	6.37:g.32497900A>G				Splice_Site	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	8.839	0.941693	0.18281	.	.	ENSG00000198502	ENST00000374975	.	.	.	4.54	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.35921	D	0.831832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4495	0.27229	0.8084:0.0:0.0:0.1916	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-DRB5	32605878	0.985000	0.35326	0.199000	0.23439	0.019000	0.09904	2.123000	0.41996	1.909000	0.55274	0.397000	0.26171	.		0.522	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125	Intron	G	32497900	A	G	32497900	5	3	4	1	0	0	0	0	0	0	1	0	7209	405	14	2	722	2	HLA-DRB5	6	32497900	Splice_Site	SNP	A	TCGA-KL-8326-01A-11D-2310-10	2358152	32497900	138617167	21	268											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33048688	33048689	+	Frame_Shift_Ins	INS	-	-	A																															acacaactacgagctgggcgINSggcccatgaccctgcagcgc																								rs141530233|rs534577141	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:33048688_33048689insA	ENST00000418931.2	+	2	456_457	c.340_341insA	c.(340-342)gggfs	p.G114fs	HLA-DPA1_ENST00000419277.1_5'Flank|HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Frame_Shift_Ins_p.G114fs	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	114	Beta-1.		G -> E (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01; dbSNP:rs9277354). {ECO:0000269|PubMed:6330724}.		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)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|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)|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)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGAGCTGGGCGGGCCCATGACC	0.708																																						.											0										2094,2108		551,992,558						-3.9	0		dbSNP_134	20	2192,6010		354,1484,2263	no	frameshift	HLA-DPB1	NM_002121.5		905,2476,2821	A1A1,A1R,RR		26.7252,49.8334,34.5534				4286,8118				SO:0001589	frameshift_variant	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	Exception_encountered	6.37:g.33048688_33048689insA	ENSP00000408146:p.Gly114fs		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Frame_Shift_Ins	INS	ENST00000418931.2	37	CCDS4765.1																																																																																				0.708	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		A	33048689	-	A	33048688	7	5	4	1	0	1	1	0	0	0	0	0	7203	1116	39	0	346	0	HLA-DPB1	6	33048688	Frame_Shift_Ins	INS	-	TCGA-KL-8326-01A-11D-2310-10	550788	33048688	138066379	22	269											
C6orf174	387104	ucsc.edu	37	chr6	127796985	127796985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgctgcatgttggacataAgcacgcggttctcgtactgc	8	10	12	11	4	1	0	0	0	1	0	2	1	1	1	0	2	5	6	0	2	2	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:127796985A>G	ENST00000525778.1	-	6	2931	c.2186T>C	c.(2185-2187)cTt>cCt	p.L729P	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.L729P|SOGA3_ENST00000368268.2_Missense_Mutation_p.L729P|SOGA3_ENST00000556132.1_Missense_Mutation_p.L729P|SOGA3_ENST00000465909.2_Missense_Mutation_p.L729P			Q5TF21	SOGA3_HUMAN	SOGA family member 3	729					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GTTGGACATAAGCACGCGGTT	0.672																																						.											0													67	74	72					6																	127796985		2194	4296	6490	SO:0001583	missense	387104			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.2186T>C	6.37:g.127796985A>G	ENSP00000434570:p.Leu729Pro			Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983571	0.74474	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79645	-0.1717	10	0.87932	D	0	-13.174	14.9909	0.71387	1.0:0.0:0.0:0.0	.	729	Q5TF21	CF174_HUMAN	P	729	ENSP00000451768:L729P;ENSP00000357251:L729P;ENSP00000434570:L729P;ENSP00000435559:L729P	ENSP00000435559:L729P	L	-	2	0	C6orf174	127838678	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.051000	0.93849	1.952000	0.56665	0.379000	0.24179	CTT		0.672	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		G	127796985	A	G	127796985	3	3	4	1	0	0	0	0	1	0	0	0	2345	72	3	2	665	2	C6orf174	6	127796985	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	94748297	127796985	43318082	23	270											
STXBP5	134957	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	147646106	147646106	+	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	ttattttagagttaaaaactCaccacttaaacagtctccag	15	13	4	9	0	2	1	1	0	1	1	3	1	2	1	2	0	2	1	2	0	7	5			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:147646106C>A	ENST00000321680.6	+	17	1814	c.1814C>A	c.(1813-1815)tCa>tAa	p.S605*	STXBP5_ENST00000179882.6_Nonsense_Mutation_p.S276*|STXBP5_ENST00000367480.3_Nonsense_Mutation_p.S605*|STXBP5_ENST00000367481.3_Nonsense_Mutation_p.S605*	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	605					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTTAAAAACTCACCACTTAAA	0.333																																						.											0													56	60	59					6																	147646106		2203	4300	6503	SO:0001587	stop_gained	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1814C>A	6.37:g.147646106C>A	ENSP00000321826:p.Ser605*		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Nonsense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	38	6.790862	0.97841	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	.	.	.	4.94	4.94	0.65067	.	0.279933	0.35320	N	0.003284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.5225	0.90959	0.0:1.0:0.0:0.0	.	.	.	.	X	605;605;605;276	.	ENSP00000179882:S276X	S	+	2	0	STXBP5	147687799	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	5.657000	0.67996	2.438000	0.82558	0.655000	0.94253	TCA		0.333	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			A	147646106	C	A	147646106	4	1	4	1	0	0	0	0	0	1	0	0	15355	838	29	5	1880	5	STXBP5	6	147646106	Nonsense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	19849121	147646106	23468961	24	271											
WBSCR17	64409	ucsc.edu	37	chr7	70800582	70800582	+	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	gaaggttatggtgggcggggTaaagggggccttccggctac	7	8	19	7	2	0	0	0	0	0	0	1	1	1	0	2	8	1	3	2	8	5	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:70800582T>G	ENST00000333538.5	+	2	919	c.285T>G	c.(283-285)ggT>ggG	p.G95G	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	95					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)				GTGGGCGGGGTAAAGGGGGCC	0.448																																						.											0																																										SO:0001819	synonymous_variant	64409			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.285T>G	7.37:g.70800582T>G			Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	CCDS5540.1																																																																																				0.448	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		G	70800582	T	G	70800582	2	3	4	1	0	0	0	0	0	0	0	1	17261	1625	57	5		5	WBSCR17	7	70800582	Silent	SNP	T	TCGA-KL-8326-01A-11D-2310-10		70800582	88338081	25	272											
STEAP1	26872	mdanderson.org	37	chr7	89791240	89791240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggtaggtccaacaaaatAaagaagatgcctggattgag	15	9	11	6	0	1	3	0	1	1	2	2	4	2	4	2	3	2	1	2	3	7	3	rs199817828		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:89791240A>G	ENST00000297205.2	+	4	810	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	204	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					CCAACAAAATAAAGAAGATGC	0.408																																						.											0													43	44	44					7																	89791240		2203	4296	6499	SO:0001583	missense	26872			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.610A>G	7.37:g.89791240A>G	ENSP00000297205:p.Lys204Glu		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	38	0.0173992673992674	23	0.046747967479674794	1	0.0027624309392265192	0	0.0	14	0.018469656992084433	A	15.81	2.941792	0.53079	.	.	ENSG00000164647	ENST00000297205	T	0.07444	3.19	5.61	5.61	0.85477	Flavoprotein transmembrane component (1);	0.250346	0.33005	N	0.005400	T	0.01940	0.0061	L	0.51914	1.62	0.36302	D	0.857104	P;P	0.36683	0.565;0.477	B;B	0.41946	0.282;0.371	T	0.07558	-1.0766	10	0.48119	T	0.1	-6.2003	15.8022	0.78463	1.0:0.0:0.0:0.0	.	204;204	B4E221;Q9UHE8	.;STEA1_HUMAN	E	204	ENSP00000297205:K204E	ENSP00000297205:K204E	K	+	1	0	STEAP1	89629176	0.941000	0.31946	0.991000	0.47740	0.976000	0.68499	3.801000	0.55545	2.133000	0.65898	0.533000	0.62120	AAA		0.408	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		G	89791240	A	G	89791240	3	3	4	1	0	0	0	0	1	0	0	0	15276	363	13	4	620	4	STEAP1	7	89791240	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	18990658	89791240	69347423	26	273											
DOCK4	9732	bcgsc.ca	37	chr7	111512561	111512561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaatttcttttaatttagAgagacagccagtgatcttgt	12	16	7	6	0	3	3	1	1	2	2	3	4	3	3	1	0	1	0	1	0	3	6			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:111512561A>G	ENST00000437633.1	-	18	2060	c.1804T>C	c.(1804-1806)Tct>Cct	p.S602P	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.S602P	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	602					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)				TTTAATTTAGAGAGACAGCCA	0.333																																						.											0													69	61	64					7																	111512561		1812	4078	5890	SO:0001583	missense	9732				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.1804T>C	7.37:g.111512561A>G	ENSP00000404179:p.Ser602Pro		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568056	0.65651	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.19669	2.13;2.13	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.60575	0.979;0.979;0.979;0.988	P;P;P;P	0.54706	0.756;0.756;0.756;0.759	T	0.06445	-1.0826	10	0.44086	T	0.13	.	14.3959	0.67010	1.0:0.0:0.0:0.0	.	602;602;602;602	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	P	590;602;602;590;601	ENSP00000410746:S602P;ENSP00000404179:S602P	ENSP00000345432:S590P	S	-	1	0	DOCK4	111299797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.484000	0.60271	2.048000	0.60808	0.528000	0.53228	TCT		0.333	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		G	111512561	A	G	111512561	3	3	4	1	0	0	0	0	1	0	0	0	4689	304	11	2	4236	2	DOCK4	7	111512561	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	21721321	111512561	47626102	27	274											
ST7	7982	broad.mit.edu	37	chr7	116759716	116759716	+	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	ggaggggttgacaacaactcTtccaacaattctaattccag	13	10	8	10	0	2	1	0	1	2	0	4	2	4	2	2	3	3	1	2	3	5	5			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:116759716T>C	ENST00000393446.2	+	3	639	c.336T>C	c.(334-336)tcT>tcC	p.S112S	ST7_ENST00000265437.5_Silent_p.S112S|ST7_ENST00000393443.1_Silent_p.S62S|ST7_ENST00000393449.1_Silent_p.S112S|ST7_ENST00000393451.3_Silent_p.S112S|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000465133.1_Silent_p.S69S|ST7_ENST00000323984.3_Silent_p.S112S|ST7_ENST00000393447.4_Silent_p.S69S|ST7_ENST00000422922.1_Silent_p.S66S|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000432298.1_Silent_p.S66S|ST7_ENST00000393444.3_Silent_p.S69S			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	CUB 1. {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(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACAACAACTCTTCCAACAATT	0.413																																						.											0													103	105	104					7																	116759716		2203	4300	6503	SO:0001819	synonymous_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.336T>C	7.37:g.116759716T>C			A8K137|B4DRQ2	Silent	SNP	ENST00000393446.2	37																																																																																					0.413	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		C	116759716	T	C	116759716	2	2	4	1	0	0	0	0	0	0	0	1	15228	1596	56	2		2	ST7	7	116759716	Silent	SNP	T	TCGA-KL-8326-01A-11D-2310-10	5247155	116759716	42378947	28	275											
FLNC	2318	broad.mit.edu	37	chr7	128483327	128483327	+	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	atcaaggtggacccatcccaCgatgccagcaaagtcaaggc	13	5	10	13	1	2	0	2	0	0	0	3	2	3	1	3	3	2	1	3	3	3	0			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:128483327C>T	ENST00000325888.8	+	17	2856	c.2595C>T	c.(2593-2595)caC>caT	p.H865H	FLNC_ENST00000346177.6_Silent_p.H865H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	865					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						ACCCATCCCACGATGCCAGCA	0.642																																						.											0													33	38	36					7																	128483327		2075	4233	6308	SO:0001819	synonymous_variant	2318			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.2595C>T	7.37:g.128483327C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																				0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128483327	C	T	128483327	2	4	4	1	0	0	0	0	0	0	0	1	5935	535	19	1		1	FLNC	7	128483327	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10	11723611	128483327	30655336	29	276											
KLRG2	346689	ucsc.edu;bcgsc.ca	37	chr7	139168253	139168253	+	Missense_Mutation	SNP	T	T	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	cccggccggacttgggctgcTttcgggaccttcaggttgtc	3	11	14	13	3	1	0	1	0	0	0	3	2	1	2	3	5	1	3	3	5	0	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:139168253T>C	ENST00000340940.4	-	1	205	c.136A>G	c.(136-138)Agc>Ggc	p.S46G	KLRG2_ENST00000393039.2_Missense_Mutation_p.S46G	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	46	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)					CTTGGGCTGCTTTCGGGACCT	0.721																																						.											0													13	16	15					7																	139168253		1980	4042	6022	SO:0001583	missense	346689			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.136A>G	7.37:g.139168253T>C	ENSP00000339356:p.Ser46Gly		Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180967	0.38511	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.48836	3.78;0.8	3.55	0.944	0.19537	.	1.345140	0.05333	U	0.528670	T	0.28962	0.0719	N	0.24115	0.695	0.09310	N	1	P;P	0.37500	0.597;0.597	B;B	0.31614	0.133;0.098	T	0.17623	-1.0363	10	0.45353	T	0.12	-3.6868	3.0292	0.06101	0.0:0.2195:0.3131:0.4674	.	46;46	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	G	46	ENSP00000339356:S46G;ENSP00000376759:S46G	ENSP00000339356:S46G	S	-	1	0	KLRG2	138818793	0.130000	0.22417	0.004000	0.12327	0.163000	0.22366	0.056000	0.14256	-0.008000	0.14320	0.254000	0.18369	AGC		0.721	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		C	139168253	T	C	139168253	3	2	4	1	0	0	0	0	1	0	0	0	8422	1609	56	2	1113	2	KLRG2	7	139168253	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	10684926	139168253	19970410	30	277											
MLL3	58508	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr7	151855973	151855973	+	Missense_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	tcaagtgggtaaacgtgtcaGtgctagagtacatagcttgt	11	12	12	6	1	2	1	2	0	0	1	2	1	2	1	0	1	4	4	0	1	6	5			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:151855973G>A	ENST00000262189.6	-	44	11863	c.11645C>T	c.(11644-11646)aCt>aTt	p.T3882I	KMT2C_ENST00000355193.2_Missense_Mutation_p.T3882I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3882					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)										AAACGTGTCAGTGCTAGAGTA	0.488																																						.											0													404	372	383					7																	151855973		2203	4300	6503	SO:0001583	missense	58508			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.11645C>T	7.37:g.151855973G>A	ENSP00000262189:p.Thr3882Ile		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330519	0.24167	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88354	-1.73;-1.79;-2.37	5.56	1.33	0.21861	.	1.403890	0.05210	U	0.506622	D	0.86439	0.5933	L	0.38175	1.15	0.19300	N	0.999975	B;B;B	0.32526	0.201;0.374;0.374	B;B;B	0.36186	0.092;0.219;0.143	T	0.75274	-0.3375	10	0.62326	D	0.03	.	12.502	0.55960	0.0:0.3803:0.5009:0.1188	.	3882;2943;3882	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	I	3882;3882;468	ENSP00000262189:T3882I;ENSP00000347325:T3882I;ENSP00000410411:T468I	ENSP00000262189:T3882I	T	-	2	0	MLL3	151486906	0.028000	0.19301	0.000000	0.03702	0.023000	0.10783	1.857000	0.39399	0.347000	0.23924	0.591000	0.81541	ACT		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151855973	G	A	151855973	3	1	4	1	0	0	0	0	1	0	0	0	9622	1029	36	4	3154	4	MLL3	7	151855973	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	12687720	151855973	7282690	31	278											
HSF1	3297	bcgsc.ca	37	chr8	145535243	145535243	+	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	attccatgcccaagtatagcCggcagttctccctggagcac	9	9	9	14	1	1	0	0	0	1	0	3	1	2	1	4	2	3	4	4	2	3	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr8:145535243C>T	ENST00000528838.1	+	7	839	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HSF1_ENST00000400780.4_Missense_Mutation_p.R162W	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	227	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAAGTATAGCCGGCAGTTCTC	0.672																																						.											0													68	65	66					8																	145535243		2203	4296	6499	SO:0001583	missense	3297			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.679C>T	8.37:g.145535243C>T	ENSP00000431512:p.Arg227Trp		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155959	0.78114	.	.	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	5.14	4.26	0.50523	.	0.110120	0.56097	D	0.000040	T	0.77698	0.4169	M	0.77103	2.36	0.58432	D	0.999996	D	0.89917	1.0	D	0.72338	0.977	T	0.80643	-0.1291	9	0.72032	D	0.01	-17.3041	12.8206	0.57690	0.1646:0.8353:0.0:0.0	.	227	Q00613	HSF1_HUMAN	W	227;162	.	ENSP00000383590:R162W	R	+	1	2	HSF1	145506051	1.000000	0.71417	0.927000	0.36925	0.369000	0.29798	3.469000	0.53093	1.380000	0.46344	0.563000	0.77884	CGG		0.672	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		T	145535243	C	T	145535243	3	4	4	1	0	0	0	0	1	0	0	0	7395	643	23	1	705	1	HSF1	8	145535243	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		145535243	828779	32	279											
KIAA1797	54914	ucsc.edu	37	chr9	20986432	20986432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgattctgcacagcttatAccaggcacggattgtgagcc	10	10	11	10	1	1	2	0	2	1	0	1	4	1	3	2	2	4	3	2	2	2	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:20986432A>G	ENST00000380249.1	+	42	5238	c.4874A>G	c.(4873-4875)tAc>tGc	p.Y1625C	FOCAD_ENST00000605086.1_Missense_Mutation_p.Y1061C|FOCAD_ENST00000338382.6_Missense_Mutation_p.Y1625C	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1625						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CACAGCTTATACCAGGCACGG	0.522																																						.											0													120	89	99					9																	20986432		2203	4300	6503	SO:0001583	missense	54914			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.4874A>G	9.37:g.20986432A>G	ENSP00000369599:p.Tyr1625Cys		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292997	0.80914	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.26660	1.72;1.72	5.72	5.72	0.89469	.	0.064498	0.64402	D	0.000005	T	0.50905	0.1643	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.50346	-0.8839	10	0.49607	T	0.09	-8.4471	15.998	0.80265	1.0:0.0:0.0:0.0	.	1625	Q5VW36	K1797_HUMAN	C	1625	ENSP00000369599:Y1625C;ENSP00000344307:Y1625C	ENSP00000344307:Y1625C	Y	+	2	0	KIAA1797	20976432	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.436000	0.66538	2.183000	0.69458	0.455000	0.32223	TAC		0.522	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		G	20986432	A	G	20986432	3	3	4	1	0	0	0	0	1	0	0	0	8258	391	14	2	5028	2	KIAA1797	9	20986432	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10		20986432	120226999	33	280											
MAPKAP1	79109	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr9	128246857	128246857	+	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	ctcaaaaaccccgtctgcccTtgaacctggggaggaaaagg	12	6	11	12	1	2	1	1	1	1	0	2	3	2	3	4	4	3	0	4	4	5	1			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:128246857T>G	ENST00000373498.1	-	8	1140	c.1072A>C	c.(1072-1074)Agg>Cgg	p.R358R	MAPKAP1_ENST00000265960.3_Silent_p.R358R|MAPKAP1_ENST00000350766.3_Silent_p.R322R|MAPKAP1_ENST00000394063.1_Silent_p.R166R|MAPKAP1_ENST00000373497.5_Silent_p.R71R|MAPKAP1_ENST00000373503.3_Silent_p.R166R|MAPKAP1_ENST00000373511.2_Intron			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	358					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 Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CCGTCTGCCCTTGAACCTGGG	0.413																																						.											0													129	112	118					9																	128246857		2203	4300	6503	SO:0001819	synonymous_variant	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1072A>C	9.37:g.128246857T>G			A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	CCDS35140.1																																																																																				0.413	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			G	128246857	T	G	128246857	2	3	4	1	0	0	0	0	0	0	0	1	9288	1608	56	5		5	MAPKAP1	9	128246857	Silent	SNP	T	TCGA-KL-8326-01A-11D-2310-10	107260425	128246857	12966574	34	281											
C9orf119	375757	broad.mit.edu	37	chr9	131046910	131046910	+	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	gatctcccagttcgtatctgAgtaagtttcattgggttccc	7	15	9	10	1	3	1	1	1	2	0	6	2	4	1	2	1	0	5	2	1	2	6			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:131046910A>G	ENST00000320188.5	+	3	548	c.548A>G	c.(547-549)gAa>gGa	p.E183G	SWI5_ENST00000495313.1_Splice_Site_p.E87G|SWI5_ENST00000418976.1_Splice_Site_p.E78G|SWI5_ENST00000419867.2_Splice_Site_p.E118G|SWI5_ENST00000608796.1_Splice_Site_p.E118G	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	183					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											TTCGTATCTGAGTAAGTTTCA	0.512																																						.											0													102	108	106					9																	131046910		1979	4158	6137	SO:0001630	splice_region_variant	375757			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.548+1A>G	9.37:g.131046910A>G			Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	CCDS43883.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.42|19.42|19.42	3.823333|3.823333|3.823333	0.71143|0.71143|0.71143	.|.|.	.|.|.	ENSG00000175854|ENSG00000175854|ENSG00000175854	ENST00000320188|ENST00000495313;ENST00000372898|ENST00000418976	.|.|.	.|.|.	.|.|.	5.32|5.32|5.32	4.18|4.18|4.18	0.49190|0.49190|0.49190	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.73079|0.73079|.	0.3541|0.3541|.	M|M|M	0.83603|0.83603|0.83603	2.65|2.65|2.65	0.45342|0.45342|0.45342	D|D|D	0.998339|0.998339|0.998339	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.91635|.|.	0.999|.|.	T|T|.	0.73235|0.73235|.	-0.4047|-0.4047|.	9|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	8.945|8.945|8.945	0.35753|0.35753|0.35753	0.9143:0.0:0.0857:0.0|0.9143:0.0:0.0857:0.0|0.9143:0.0:0.0857:0.0	.|.|.	183|.|.	Q1ZZU3|.|.	SWI5_HUMAN|.|.	G|E|W	183|97;93|110	.|.|.	ENSP00000316609:E183G|.|.	E|K|X	+|+|+	2|1|3	0|0|0	SWI5|SWI5|SWI5	130086731|130086731|130086731	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.776000|0.776000|0.776000	0.43924|0.43924|0.43924	3.514000|3.514000|3.514000	0.53422|0.53422|0.53422	0.964000|0.964000|0.964000	0.38108|0.38108|0.38108	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|AAG|TGA		0.512	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011	Missense_Mutation	G	131046910	A	G	131046910	5	3	4	1	0	0	0	0	0	0	1	0	2452	318	11	2	558	2	C9orf119	9	131046910	Splice_Site	SNP	A	TCGA-KL-8326-01A-11D-2310-10	2800053	131046910	10166521	35	282											
TSC1	7248	broad.mit.edu	37	chr9	135797337	135797349	+	Frame_Shift_Del	DEL	CGAGATAGACTTC	CGAGATAGACTTC	-																															cacactggcatggagatggaCgagatagacttccgccacgt																								rs118203393|rs118203392|rs118203395|rs397514794|rs118203394		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	CGAGATAGACTTC	CGAGATAGACTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:135797337_135797349delCGAGATAGACTTC	ENST00000298552.3	-	7	741_753	c.520_532delGAAGTCTATCTCG	c.(520-534)gaagtctatctcgtcfs	p.EVYLV174fs	TSC1_ENST00000403810.1_Frame_Shift_Del_p.EVYLV174fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.EVYLV174fs|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Frame_Shift_Del_p.EVYLV123fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	174					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.E174*(1)|p.V178L(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGGAGATGGACGAGATAGACTTCCGCCACGTGG	0.474			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	3	Substitution - Missense(1)|Unknown(1)|Substitution - Nonsense(1)	lung(2)|bone(1)	GRCh37	CD972479|CM090913	TSC1	D|M	rs118203392																																			SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.520_532delGAAGTCTATCTCG	9.37:g.135797337_135797349delCGAGATAGACTTC	ENSP00000298552:p.Glu174fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.474	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135797349	CGAGATAGACTTC	-	135797337	7	5	4	1	0	1	0	1	0	0	0	0	16602	536	19	0	3030	0	TSC1	9	135797337	Frame_Shift_Del	DEL	CGAGATAGACTTC	TCGA-KL-8326-01A-11D-2310-10	4750427	135797337	5416094	36	283	6	2									
TSC1	7248	bcgsc.ca	37	chr9	135797338	135797350	+	Frame_Shift_Del	DEL	CGAGATAGACTTC	CGAGATAGACTTC	-																															acactggcatggagatggacGagatagacttccgccacgtg																								rs118203393|rs118203392|rs397514794|rs118203394		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	CGAGATAGACTTC	CGAGATAGACTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:135797338_135797350delCGAGATAGACTTC	ENST00000298552.3	-	7	740_752	c.519_531delGAAGTCTATCTCG	c.(517-531)gcgaagtctatctcgfs	p.AKSIS173fs	TSC1_ENST00000403810.1_Frame_Shift_Del_p.AKSIS173fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.AKSIS173fs|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Frame_Shift_Del_p.AKSIS122fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	173					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.E174*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGAGATGGACGAGATAGACTTCCGCCACGTGGC	0.479			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	2	Substitution - Nonsense(1)|Unknown(1)	lung(1)|bone(1)	GRCh37	CD972479|CM090913	TSC1	D|M	rs118203392																																			SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.519_531delGAAGTCTATCTCG	9.37:g.135797338_135797350delCGAGATAGACTTC	ENSP00000298552:p.Ala173fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.479	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135797350	CGAGATAGACTTC	-	135797338	7	5	4	1	0	1	0	1	0	0	0	0	16602	1045	37	0	3031	0	TSC1	9	135797338	Frame_Shift_Del	DEL	CGAGATAGACTTC	TCGA-KL-8326-01A-11D-2310-10	1	135797338	5416093	37	284	6	2									
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	16941101	16941101	+	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	gagtaatggccgtccaggaaCatctgctgttttcgggaaaa	11	10	12	8	2	1	0	0	0	1	0	3	3	2	2	2	3	2	3	2	3	4	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:16941101C>T	ENST00000377833.4	-	54	8557	c.8492G>A	c.(8491-8493)tGt>tAt	p.C2831Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2831	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTCCAGGAACATCTGCTGTT	0.428																																						.											0													159	145	150					10																	16941101		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8492G>A	10.37:g.16941101C>T	ENSP00000367064:p.Cys2831Tyr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760183	0.69763	.	.	ENSG00000107611	ENST00000377833	T	0.66280	-0.2	5.63	5.63	0.86233	CUB (5);	0.000000	0.51477	D	0.000095	D	0.86029	0.5835	H	0.95917	3.74	0.80722	D	1	D	0.60160	0.987	D	0.66497	0.944	D	0.89731	0.3926	10	0.87932	D	0	.	20.0433	0.97601	0.0:1.0:0.0:0.0	.	2831	O60494	CUBN_HUMAN	Y	2831	ENSP00000367064:C2831Y	ENSP00000367064:C2831Y	C	-	2	0	CUBN	16981107	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	7.396000	0.79891	2.817000	0.96982	0.561000	0.74099	TGT		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16941101	C	T	16941101	3	4	4	1	0	0	0	0	1	0	0	0	4051	478	17	4	2435	4	CUBN	10	16941101	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		16941101	118593646	38	285											
SIRT1	23411	broad.mit.edu	37	chr10	69644881	69644883	+	In_Frame_Del	DEL	GGC	GGC	-																															gagggcgaggaggaggaagaGgcggcggcggcggcgattgg																								rs561432931|rs36062014	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:69644881_69644883delGGC	ENST00000212015.6	+	1	455_457	c.402_404delGGC	c.(400-405)gaggcg>gag	p.A139del	SIRT1_ENST00000432464.1_5'Flank	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	139	Interaction with CLOCK. {ECO:0000250|UniProtKB:Q923E4}.|Interaction with HIST1H1E.				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						aggaggaagaggcggcggcggcg	0.7														4	0.000798722	0.0023	0	5008	,	,		11397	0		0	False		,,,				2504	0.001					.											0										22,2122		7,8,1057						2.8	1			3	14,4796		4,6,2395	no	coding	SIRT1	NM_012238.4		11,14,3452	A1A1,A1R,RR		0.2911,1.0261,0.5177				36,6918				SO:0001651	inframe_deletion	23411			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.402_404delGGC	10.37:g.69644890_69644892delGGC	ENSP00000212015:p.Ala139del		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	In_Frame_Del	DEL	ENST00000212015.6	37	CCDS7273.1																																																																																				0.7	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			-	69644883	GGC	-	69644881	7	5	4	1	0	1	0	1	0	0	0	0	14337	991	35	0	404	0	SIRT1	10	69644881	In_Frame_Del	DEL	GGC	TCGA-KL-8326-01A-11D-2310-10	52703780	69644881	65889866	39	286											
AIFM2	84883	ucsc.edu	37	chr10	71877654	71877654	+	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	gctccttgtcagccagggccActtgggagtgaatgagagtg	8	9	15	9	0	1	2	1	2	0	1	2	4	2	3	3	2	1	1	3	2	1	2			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:71877654A>C	ENST00000307864.1	-	6	743	c.530T>G	c.(529-531)gTg>gGg	p.V177G	AIFM2_ENST00000373248.1_Missense_Mutation_p.V177G|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	177					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						AGCCAGGGCCACTTGGGAGTG	0.592																																						.											0													74	69	71					10																	71877654		2203	4300	6503	SO:0001583	missense	84883			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.530T>G	10.37:g.71877654A>C	ENSP00000312370:p.Val177Gly		B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	A	8.823	0.937925	0.18206	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.56444	0.46;0.46	5.58	4.44	0.53790	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.538267	0.21743	N	0.069795	T	0.28863	0.0716	N	0.03324	-0.35	0.21627	N	0.999619	B	0.27166	0.17	B	0.32289	0.143	T	0.18493	-1.0335	10	0.23302	T	0.38	-12.9655	10.0053	0.41953	0.8647:0.0:0.1353:0.0	.	177	Q9BRQ8	AIFM2_HUMAN	G	177;177;137	ENSP00000362345:V177G;ENSP00000312370:V177G	ENSP00000312370:V177G	V	-	2	0	AIFM2	71547660	0.000000	0.05858	0.026000	0.17262	0.898000	0.52572	1.364000	0.34171	2.133000	0.65898	0.402000	0.26972	GTG		0.592	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		C	71877654	A	C	71877654	3	2	4	1	0	0	0	0	1	0	0	0	427	159	6	5	607	5	AIFM2	10	71877654	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	2232773	71877654	63657093	40	287											
CYP26C1	340665	ucsc.edu	37	chr10	94825774	94825774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgccagcacctcgcTcgtcctgctgctactgcagc	5	8	11	17	2	0	0	0	0	0	0	3	0	1	0	4	1	7	5	4	1	1	1			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:94825774T>C	ENST00000285949.5	+	5	923	c.923T>C	c.(922-924)cTc>cCc	p.L308P		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	308					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				AGCACCTCGCTCGTCCTGCTG	0.716																																						.											0													9	9	9					10																	94825774		2166	4233	6399	SO:0001583	missense	340665				CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"Cytochrome P450s"	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.923T>C	10.37:g.94825774T>C	ENSP00000285949:p.Leu308Pro		Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	CCDS7425.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612459	0.87258	.	.	ENSG00000187553	ENST00000285949	T	0.69561	-0.41	5.27	5.27	0.74061	.	0.139535	0.49305	D	0.000149	D	0.82342	0.5016	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85090	0.0951	10	0.72032	D	0.01	-31.2296	15.2251	0.73345	0.0:0.0:0.0:1.0	.	308	Q6V0L0	CP26C_HUMAN	P	308	ENSP00000285949:L308P	ENSP00000285949:L308P	L	+	2	0	CYP26C1	94815764	1.000000	0.71417	0.965000	0.40720	0.836000	0.47400	7.973000	0.88032	1.997000	0.58415	0.397000	0.26171	CTC		0.716	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		C	94825774	T	C	94825774	3	2	4	1	0	0	0	0	1	0	0	0	4157	1551	54	2	941	2	CYP26C1	10	94825774	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	22948120	94825774	40708973	41	288											
BLNK	29760	broad.mit.edu;hgsc.bcm.edu	37	chr10	98006782	98006782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcattgtttttaataTcatggaccatcttttgaagc	10	17	5	9	0	3	1	2	1	1	0	3	2	3	2	2	1	1	1	2	1	3	8			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:98006782T>C	ENST00000224337.5	-	2	212	c.71A>G	c.(70-72)gAt>gGt	p.D24G	BLNK_ENST00000413476.2_Missense_Mutation_p.D24G|BLNK_ENST00000495266.1_Missense_Mutation_p.D24G|BLNK_ENST00000371176.2_Missense_Mutation_p.D24G|BLNK_ENST00000427367.2_Missense_Mutation_p.D24G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	24					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)		GTTTTTAATATCATGGACCAT	0.269																																						.											0													63	75	71					10																	98006782		2203	4296	6499	SO:0001583	missense	29760			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.71A>G	10.37:g.98006782T>C	ENSP00000224337:p.Asp24Gly		O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503963	0.44558	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049;ENST00000393894;ENST00000393889;ENST00000428924;ENST00000393898	.	.	.	5.85	4.52	0.55395	.	0.089414	0.85682	D	0.000000	T	0.60599	0.2281	M	0.78801	2.425	0.45662	D	0.998581	B;B;B;B;B	0.27997	0.004;0.197;0.096;0.004;0.153	B;B;B;B;B	0.27796	0.011;0.083;0.038;0.011;0.052	T	0.65450	-0.6165	9	0.72032	D	0.01	-28.8439	8.3876	0.32510	0.0:0.0998:0.0:0.9002	.	24;24;24;24;24	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q8WV28	.;.;.;.;BLNK_HUMAN	G	24;24;24;24;24;24;24;24;37	.	ENSP00000224337:D24G	D	-	2	0	BLNK	97996772	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.966000	0.49208	2.235000	0.73313	0.482000	0.46254	GAT		0.269	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		C	98006782	T	C	98006782	3	2	4	1	0	0	0	0	1	0	0	0	1447	1435	50	4	1363	4	BLNK	10	98006782	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	3181008	98006782	37527965	42	289											
C11orf20	25858	broad.mit.edu	37	chr11	64068336	64068336	+	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	ggggctcgttggacgaggggTacaaggccagccacaagccg	9	4	17	11	3	0	0	0	0	0	0	1	2	0	1	3	6	3	3	3	6	3	2			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:64068336T>G	ENST00000328404.6	+	2	249	c.229T>G	c.(229-231)Tac>Gac	p.Y77D	TEX40_ENST00000539943.1_Missense_Mutation_p.Y35D|RP11-783K16.10_ENST00000539086.1_RNA	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40	77					cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											GGACGAGGGGTACAAGGCCAG	0.667											OREG0021050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													7	10	9					11																	64068336		2013	4129	6142	SO:0001583	missense	25858					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.229T>G	11.37:g.64068336T>G	ENSP00000330877:p.Tyr77Asp	1073		Missense_Mutation	SNP	ENST00000328404.6	37		.	.	.	.	.	.	.	.	.	.	T	9.160	1.018388	0.19355	.	.	ENSG00000219435	ENST00000328404;ENST00000539943	T;T	0.40756	1.02;1.08	4.02	-1.11	0.09840	.	.	.	.	.	T	0.14056	0.0340	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19192	-1.0313	9	0.31617	T	0.26	.	3.455	0.07512	0.2683:0.0:0.2858:0.4459	.	77	Q9NTU4	CK020_HUMAN	D	77;35	ENSP00000330877:Y77D;ENSP00000443917:Y35D	ENSP00000330877:Y77D	Y	+	1	0	C11orf20	63824912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.006000	0.12833	-0.195000	0.10382	-0.249000	0.11873	TAC		0.667	TEX40-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039496		G	64068336	T	G	64068336	3	3	4	1	0	0	0	0	1	0	0	0	1634	1638	57	5	235	5	C11orf20	11	64068336	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10		64068336	70938180	43	290											
MTL5	9633	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	68514791	68514791	+	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	tctgcaaagttgcttcttccGgattattacttgtagtagta	9	17	8	7	1	2	0	0	0	2	0	3	1	3	1	1	1	3	6	1	1	6	9			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:68514791G>A	ENST00000255087.5	-	3	698	c.515C>T	c.(514-516)cCg>cTg	p.P172L	MTL5_ENST00000544963.1_Missense_Mutation_p.P172L|MTL5_ENST00000443940.2_Missense_Mutation_p.P172L|MTL5_ENST00000540869.1_5'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	172					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)	p.P172Q(1)		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)			TGCTTCTTCCGGATTATTACT	0.423																																						.											1	Substitution - Missense(1)	lung(1)											134	128	130					11																	68514791		2200	4294	6494	SO:0001583	missense	9633			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.515C>T	11.37:g.68514791G>A	ENSP00000255087:p.Pro172Leu		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496866	0.04291	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.42131	1.59;0.98;1.57	5.1	-2.27	0.06846	.	1.095660	0.06919	N	0.809035	T	0.20700	0.0498	N	0.12746	0.255	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.19943	-1.0290	10	0.26408	T	0.33	-1.9232	4.6009	0.12352	0.3337:0.0:0.385:0.2813	.	172;155;172	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	L	172	ENSP00000255087:P172L;ENSP00000403086:P172L;ENSP00000440968:P172L	ENSP00000255087:P172L	P	-	2	0	MTL5	68271367	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.165000	0.09968	-0.189000	0.10482	-0.215000	0.12644	CCG		0.423	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		A	68514791	G	A	68514791	3	1	4	1	0	0	0	0	1	0	0	0	9936	1116	39	1	1047	1	MTL5	11	68514791	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	4446455	68514791	66491725	44	291											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	103153739	103153739	+	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	taattgcttttattaaaggaCtctcaacaaaaaatacgtga	17	13	5	6	1	1	1	1	1	1	0	2	2	1	2	0	1	3	1	0	1	9	6			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:103153739C>A	ENST00000375735.2	+	73	10959	c.10815C>A	c.(10813-10815)gaC>gaA	p.D3605E	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D3612E|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	3605					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)		TATTAAAGGACTCTCAACAAA	0.313																																						.											0													59	58	59					11																	103153739		1809	4063	5872	SO:0001583	missense	79659			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.10815C>A	11.37:g.103153739C>A	ENSP00000364887:p.Asp3605Glu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	7.276	0.608177	0.14002	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.27890	1.64;1.64	5.05	-0.757	0.11054	.	0.224065	0.40818	N	0.001016	T	0.15609	0.0376	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.19445	0.021;0.036	B;B	0.23852	0.022;0.049	T	0.30001	-0.9993	10	0.02654	T	1	.	8.4751	0.33007	0.0:0.3211:0.0:0.6789	.	3605;3612	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	3605;3612	ENSP00000364887:D3605E;ENSP00000381167:D3612E	ENSP00000364887:D3605E	D	+	3	2	DYNC2H1	102658949	0.970000	0.33590	0.998000	0.56505	0.978000	0.69477	-0.088000	0.11198	0.014000	0.14944	0.460000	0.39030	GAC		0.313	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		A	103153739	C	A	103153739	3	1	4	1	0	0	0	0	1	0	0	0	4846	564	20	5	11130	5	DYNC2H1	11	103153739	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	34638948	103153739	31852777	45	292											
ZBTB16	7704	hgsc.bcm.edu;mdanderson.org	37	chr11	113934295	113934295	+	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	gagtatgcatatacagccacGctgcaagccaaggcggagga	13	5	13	10	2	0	0	0	0	0	0	0	3	0	2	2	3	5	4	2	3	5	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:113934295G>T	ENST00000335953.4	+	2	653	c.273G>T	c.(271-273)acG>acT	p.T91T	ZBTB16_ENST00000392996.2_Silent_p.T91T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		ATACAGCCACGCTGCAAGCCA	0.527																																						.											0													72	62	66					11																	113934295		2201	4296	6497	SO:0001819	synonymous_variant	7704			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.273G>T	11.37:g.113934295G>T			Q8TAL4	Silent	SNP	ENST00000335953.4	37	CCDS8367.1																																																																																				0.527	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		T	113934295	G	T	113934295	2	4	4	1	0	0	0	0	0	0	0	1	17523	1074	38	5		5	ZBTB16	11	113934295	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10	10780556	113934295	21072221	46	293											
OR6T1	219874	broad.mit.edu	37	chr11	123814285	123814285	+	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	aatgagatggtgtgatccccCgtgaggatgacgacaagcat	12	8	13	8	2	0	4	0	4	0	1	1	7	1	5	2	2	1	1	2	2	2	0			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:123814285C>T	ENST00000321252.2	-	1	295	c.261G>A	c.(259-261)acG>acA	p.T87T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T87T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTGATCCCCCGTGAGGATGA	0.507																																						.											1	Substitution - coding silent(1)	lung(1)											122	99	107					11																	123814285		2202	4299	6501	SO:0001819	synonymous_variant	219874			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.261G>A	11.37:g.123814285C>T			Q6IFE7	Silent	SNP	ENST00000321252.2	37	CCDS31700.1																																																																																				0.507	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		T	123814285	C	T	123814285	2	4	4	1	0	0	0	0	0	0	0	1	11210	639	23	1		1	OR6T1	11	123814285	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10	9879990	123814285	11192231	47	294											
OR10G8	219869	mdanderson.org	37	chr11	123900382	123900382	+	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	cctcatgggccttccccatgCcccagcgctggacgcccccc	4	6	9	22	2	1	0	1	0	0	0	2	1	2	1	9	2	2	1	9	2	0	1	rs73028928	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:123900382C>T	ENST00000431524.1	+	1	86	c.53C>T	c.(52-54)gCc>gTc	p.A18V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	18						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		CTTCCCCATGCCCCAGCGCTG	0.572																																						.											0													180	171	174					11																	123900382		2201	4299	6500	SO:0001583	missense	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.53C>T	11.37:g.123900382C>T	ENSP00000389072:p.Ala18Val		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326961	0.24080	.	.	ENSG00000234560	ENST00000431524	T	0.01099	5.34	2.95	2.95	0.34219	.	0.922077	0.09000	N	0.863091	T	0.00784	0.0026	N	0.04994	-0.135	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46555	-0.9183	10	0.39692	T	0.17	.	4.9369	0.13944	0.0:0.7325:0.0:0.2675	.	18	Q8NGN5	O10G8_HUMAN	V	18	ENSP00000389072:A18V	ENSP00000389072:A18V	A	+	2	0	OR10G8	123405592	0.000000	0.05858	0.047000	0.18901	0.004000	0.04260	-1.793000	0.01755	1.634000	0.50500	0.585000	0.79938	GCC		0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		T	123900382	C	T	123900382	3	4	4	1	0	0	0	0	1	0	0	0	10903	739	26	3	55	3	OR10G8	11	123900382	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	86097	123900382	11106134	48	295											
LETMD1	25875	broad.mit.edu;bcgsc.ca	37	chr12	51449713	51449713	+	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	tcatgctttccggaagcagtCccacccagaaattattagtt	11	12	7	11	1	1	1	1	0	0	1	3	2	3	2	3	1	2	3	3	1	4	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr12:51449713C>G	ENST00000262055.4	+	5	608	c.569C>G	c.(568-570)tCc>tGc	p.S190C	LETMD1_ENST00000418425.2_Missense_Mutation_p.S203C|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Missense_Mutation_p.S73C|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.S134C	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	190	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						CGGAAGCAGTCCCACCCAGAA	0.448																																						.											0													94	95	95					12																	51449713		2203	4300	6503	SO:0001583	missense	25875			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.569C>G	12.37:g.51449713C>G	ENSP00000262055:p.Ser190Cys		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.059884|3.059884	0.55325|0.55325	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551931|ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000418425;ENST00000448283;ENST00000552739	.|T;T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95;0.95	5.08|5.08	5.08|5.08	0.68730|0.68730	.|LETM1-like (1);	.|0.296675	.|0.37437	.|N	.|0.002081	T|T	0.51398|0.51398	0.1672|0.1672	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.58268	.|0.982;0.936;0.975;0.794	.|P;P;P;P	.|0.56343	.|0.789;0.552;0.796;0.552	T|T	0.37549|0.37549	-0.9701|-0.9701	5|10	.|0.35671	.|T	.|0.21	-6.2246|-6.2246	17.7887|17.7887	0.88546|0.88546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|140;203;73;190	.|F8VVQ3;B3KXK7;F8VP71;Q6P1Q0	.|.;.;.;LTMD1_HUMAN	A|C	8|157;96;134;190;140;203;140;73	.|ENSP00000446862:S157C;ENSP00000450163:S134C;ENSP00000262055:S190C;ENSP00000449896:S140C;ENSP00000389903:S203C;ENSP00000450333:S73C	.|ENSP00000262055:S190C	P|S	+|+	1|2	0|0	LETMD1|LETMD1	49735980|49735980	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	2.032000|2.032000	0.41127|0.41127	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.448	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		G	51449713	C	G	51449713	3	3	4	1	0	0	0	0	1	0	0	0	8736	855	30	5	587	5	LETMD1	12	51449713	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		51449713	82402182	49	296											
NR4A1	3164	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr12	52448851	52448851	+	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	ttgagggctcggggatactgGatacacccgtgacctcaacc	9	8	12	12	2	1	2	1	2	0	0	2	4	1	4	3	4	3	1	3	4	3	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr12:52448851G>A	ENST00000243050.1	+	3	1053	c.739G>A	c.(739-741)Gat>Aat	p.D247N	NR4A1_ENST00000545748.1_Missense_Mutation_p.D301N|NR4A1_ENST00000394824.2_Missense_Mutation_p.D247N|NR4A1_ENST00000548232.1_Missense_Mutation_p.D247N|NR4A1_ENST00000360284.3_Missense_Mutation_p.D260N|NR4A1_ENST00000394825.1_Missense_Mutation_p.D247N|NR4A1_ENST00000550082.1_Missense_Mutation_p.D260N	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	247					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|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)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGATACTGGATACACCCGT	0.627																																						.											0													74	82	79					12																	52448851		2203	4300	6503	SO:0001583	missense	3164			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.739G>A	12.37:g.52448851G>A	ENSP00000243050:p.Asp247Asn		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092444	0.55968	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824;ENST00000548232	D;D;D;D;D;D;D	0.92858	-3.09;-3.11;-3.09;-3.09;-3.09;-3.09;-3.12	4.93	4.04	0.47022	.	1.015660	0.07897	N	0.972056	D	0.83797	0.5332	N	0.08118	0	0.54753	D	0.999983	B;B;B	0.26876	0.115;0.093;0.162	B;B;B	0.23419	0.035;0.046;0.034	T	0.70684	-0.4804	10	0.24483	T	0.36	.	12.6278	0.56640	0.0818:0.0:0.9182:0.0	.	260;247;247	B4DML7;P22736;Q15627	.;NR4A1_HUMAN;.	N	260;301;260;247;247;247;247	ENSP00000353427:D260N;ENSP00000440864:D301N;ENSP00000449539:D260N;ENSP00000243050:D247N;ENSP00000378302:D247N;ENSP00000378301:D247N;ENSP00000449587:D247N	ENSP00000243050:D247N	D	+	1	0	NR4A1	50735118	1.000000	0.71417	0.964000	0.40570	0.521000	0.34408	3.150000	0.50662	1.451000	0.47736	0.561000	0.74099	GAT		0.627	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			A	52448851	G	A	52448851	3	1	4	1	0	0	0	0	1	0	0	0	10632	1174	41	3	741	3	NR4A1	12	52448851	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	999138	52448851	81403044	50	297											
NBEA	26960	broad.mit.edu	37	chr13	36167554	36167554	+	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	tccgttgcaaggtcttggagAactagtcagagagatacttc	11	11	11	8	1	2	3	1	0	1	3	4	5	3	3	1	2	3	2	1	2	4	5			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr13:36167554A>G	ENST00000400445.3	+	47	7800	c.7266A>G	c.(7264-7266)agA>agG	p.R2422R	NBEA_ENST00000537702.1_Silent_p.R215R|NBEA_ENST00000379939.2_Silent_p.R2419R|NBEA_ENST00000379922.3_5'UTR|NBEA_ENST00000310336.4_Silent_p.R2422R|NBEA_ENST00000540320.1_Silent_p.R2422R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2422	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				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)		GGTCTTGGAGAACTAGTCAGA	0.343																																						.											0													130	117	121					13																	36167554		1834	4082	5916	SO:0001819	synonymous_variant	26960			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.7266A>G	13.37:g.36167554A>G			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		G	36167554	A	G	36167554	2	3	4	1	0	0	0	0	0	0	0	1	10187	243	9	4		4	NBEA	13	36167554	Silent	SNP	A	TCGA-KL-8326-01A-11D-2310-10		36167554	79002324	51	298											
FAM70B	348013	bcgsc.ca	37	chr13	114514867	114514867	+	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	ggggagaagccacccccctaCgcaccctgatagaggcgtgg	9	4	14	14	2	0	3	0	1	0	2	0	4	0	3	5	4	2	1	5	4	3	2	rs9604467	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr13:114514867C>A	ENST00000375353.3	+	9	999	c.972C>A	c.(970-972)taC>taA	p.Y324*	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	324	Pro-rich.					integral component of membrane (GO:0016021)											CACCCCCCTACGCACCCTGAT	0.552																																						.											0													56	75	69					13																	114514867		2187	4287	6474	SO:0001587	stop_gained	348013			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.972C>A	13.37:g.114514867C>A	ENSP00000364502:p.Tyr324*			Nonsense_Mutation	SNP	ENST00000375353.3	37	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	c	7.542	0.660962	0.14645	.	.	ENSG00000184497	ENST00000375353	.	.	.	4.72	-2.34	0.06704	.	.	.	.	.	.	.	.	.	.	.	0.25112	N	0.99071	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.5381	12.3595	0.55194	0.0:0.5423:0.0:0.4577	rs9604467	.	.	.	X	324	.	ENSP00000364502:Y324X	Y	+	3	2	FAM70B	113599076	0.000000	0.05858	0.026000	0.17262	0.031000	0.12232	-0.914000	0.04038	-0.444000	0.07170	-1.279000	0.01387	TAC		0.552	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		A	114514867	C	A	114514867	4	1	4	1	0	0	0	0	0	1	0	0	5606	547	19	5	1006	5	FAM70B	13	114514867	Nonsense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	78347313	114514867	655011	52	299											
RALGAPA1	253959	broad.mit.edu	37	chr14	36190999	36190999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaggctgatcacgacTccatcctctagaaaatgact	11	10	8	12	1	2	3	1	2	1	1	4	4	4	3	3	2	0	1	3	2	3	2			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr14:36190999T>C	ENST00000389698.3	-	16	2551	c.2161A>G	c.(2161-2163)Agt>Ggt	p.S721G	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S721G|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S721G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S721G	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	721					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						TGATCACGACTCCATCCTCTA	0.433																																						.											0													102	95	98					14																	36190999		2203	4297	6500	SO:0001583	missense	253959			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.2161A>G	14.37:g.36190999T>C	ENSP00000374348:p.Ser721Gly		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.724374	0.89298	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.94828	-3.53;-3.53;-3.52;-3.53;-3.52	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.994;0.999;0.976;0.965	D;D;D;P;P	0.83275	0.99;0.977;0.996;0.882;0.549	D	0.95302	0.8404	10	0.33141	T	0.24	-16.8152	16.1864	0.81955	0.0:0.0:0.0:1.0	.	721;721;721;721;721	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	G	721	ENSP00000374348:S721G;ENSP00000302647:S721G;ENSP00000258840:S721G;ENSP00000371803:S721G;ENSP00000451877:S721G	ENSP00000258840:S721G	S	-	1	0	RALGAPA1	35260750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.803000	0.85983	2.281000	0.76405	0.528000	0.53228	AGT		0.433	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36190999	T	C	36190999	3	2	4	1	0	0	0	0	1	0	0	0	13013	1551	54	2	4202	2	RALGAPA1	14	36190999	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10		36190999	71158541	53	300											
YLPM1	56252	broad.mit.edu	37	chr14	75301975	75301975	+	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	atgttctttttaggtcagatGggcagacctggaagagaaga	12	11	13	5	0	2	4	1	0	1	4	2	6	2	5	1	3	0	2	1	3	3	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr14:75301975G>A	ENST00000552421.1	+	19	4308	c.4184G>A	c.(4183-4185)tGg>tAg	p.W1395*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.W2101*			P49750	YLPM1_HUMAN	YLP motif containing 1	1906					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)		TAGGTCAGATGGGCAGACCTG	0.458																																						.											0													90	89	89					14																	75301975		1885	4112	5997	SO:0001587	stop_gained	56252			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.4184G>A	14.37:g.75301975G>A	ENSP00000447921:p.Trp1395*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	G	47	13.313461	0.99734	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	.	.	.	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0283	18.8429	0.92192	0.0:0.0:1.0:0.0	.	.	.	.	X	1395;2101	.	ENSP00000324463:W2101X	W	+	2	0	YLPM1	74371728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.446000	0.82766	0.563000	0.77884	TGG		0.458	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		A	75301975	G	A	75301975	4	1	4	1	0	0	0	0	0	1	0	0	17483	1357	47	4	6380	4	YLPM1	14	75301975	Nonsense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	39110976	75301975	32047565	54	301											
JAG2	3714	ucsc.edu	37	chr14	105614515	105614515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaaggtgtcgccgctgTcgtagcaggtgccaccgttg	6	8	16	11	5	0	0	0	0	0	0	2	1	0	1	3	3	3	4	3	3	2	2			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr14:105614515T>C	ENST00000331782.3	-	17	2589	c.2186A>G	c.(2185-2187)gAc>gGc	p.D729G	JAG2_ENST00000347004.2_Missense_Mutation_p.D691G	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	729	EGF-like 13. {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)		GTCGCCGCTGTCGTAGCAGGT	0.716																																						.											0													16	11	13					14																	105614515		2102	4139	6241	SO:0001583	missense	3714			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.2186A>G	14.37:g.105614515T>C	ENSP00000328169:p.Asp729Gly		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	t	16.98	3.270379	0.59540	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.95554	-3.74;-3.74	4.67	4.67	0.58626	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.054503	0.64402	D	0.000001	D	0.97096	0.9051	M	0.75447	2.3	0.58432	D	0.999994	D;D	0.71674	0.998;0.997	D;D	0.69824	0.966;0.925	D	0.97501	1.0060	10	0.72032	D	0.01	.	12.926	0.58260	0.0:0.0:0.0:1.0	.	691;729	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	G	729;691	ENSP00000328169:D729G;ENSP00000328566:D691G	ENSP00000328169:D729G	D	-	2	0	JAG2	104685560	1.000000	0.71417	0.974000	0.42286	0.013000	0.08279	4.099000	0.57755	1.745000	0.51790	0.254000	0.18369	GAC		0.716	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			C	105614515	T	C	105614515	3	2	4	1	0	0	0	0	1	0	0	0	7935	1667	58	2	1570	2	JAG2	14	105614515	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	30312540	105614515	1735025	55	302											
CEP152	22995	broad.mit.edu	37	chr15	49052452	49052452	+	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	cgctgatgagcattttgcacAgctatttctacctgtaggac	9	13	9	10	1	1	2	0	2	1	0	1	3	1	3	1	1	4	5	1	1	3	6			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr15:49052452A>T	ENST00000380950.2	-	19	2761	c.2574T>A	c.(2572-2574)gcT>gcA	p.A858A	CEP152_ENST00000399334.3_Silent_p.A858A|CEP152_ENST00000325747.5_Silent_p.A765A	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	858					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATTTTGCACAGCTATTTCTA	0.393																																						.											0													119	111	114					15																	49052452		1859	4106	5965	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2574T>A	15.37:g.49052452A>T			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		T	49052452	A	T	49052452	2	4	4	1	0	0	0	0	0	0	0	1	3248	175	7	5		5	CEP152	15	49052452	Silent	SNP	A	TCGA-KL-8326-01A-11D-2310-10		49052452	53478940	56	303											
RFX7	64864	ucsc.edu	37	chr15	56388045	56388045	+	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	gtgaaagttaagttctgagaAgcaactgatagagtgatagt	15	11	12	3	0	1	5	0	4	1	2	1	6	1	5	0	0	2	3	0	0	6	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr15:56388045A>T	ENST00000559447.2	-	9	1861	c.1590T>A	c.(1588-1590)gcT>gcA	p.A530A	RFX7_ENST00000422057.1_Silent_p.A530A|RFX7_ENST00000423270.1_Silent_p.A627A|RFX7_ENST00000317318.6_Silent_p.A627A			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	530					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						AGTTCTGAGAAGCAACTGATA	0.428																																						.											0													83	80	81					15																	56388045		1997	4171	6168	SO:0001819	synonymous_variant	64864					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.1590T>A	15.37:g.56388045A>T			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																					0.428	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		T	56388045	A	T	56388045	2	4	4	1	0	0	0	0	0	0	0	1	13268	59	3	5		5	RFX7	15	56388045	Silent	SNP	A	TCGA-KL-8326-01A-11D-2310-10	7335593	56388045	46143347	57	304											
NOX5	79400	broad.mit.edu	37	chr15	69320701	69320701	+	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	ctcttccaggtgtatgacatCgatggtaagggctcttcctg	7	13	11	10	1	2	1	0	1	2	0	5	2	4	1	2	3	0	3	2	3	2	4			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr15:69320701C>T	ENST00000388866.3	+	3	362	c.321C>T	c.(319-321)atC>atT	p.I107I	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Silent_p.I89I|NOX5_ENST00000260364.5_Silent_p.I89I|NOX5_ENST00000530406.2_Silent_p.I107I|NOX5_ENST00000455873.3_Silent_p.I100I	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	107	EF-hand 3; atypical; contains an insert of 28 residues. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGTATGACATCGATGGTAAGG	0.592																																						.											0													110	105	106					15																	69320701		2200	4298	6498	SO:0001819	synonymous_variant	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.321C>T	15.37:g.69320701C>T			B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																				0.592	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		T	69320701	C	T	69320701	2	4	4	1	0	0	0	0	0	0	0	1	10559	874	31	1		1	NOX5	15	69320701	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10	12932656	69320701	33210691	58	305											
MYH13	8735	broad.mit.edu	37	chr17	10263502	10263502	+	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	tgaggatagactggttgtctCgatctagaaatgcagaggga	12	10	14	5	1	2	4	0	1	2	3	3	7	2	6	0	3	1	2	0	3	3	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr17:10263502C>G	ENST00000418404.3	-	5	672	c.509G>C	c.(508-510)cGa>cCa	p.R170P	MYH13_ENST00000252172.4_Missense_Mutation_p.R170P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	170	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						CTGGTTGTCTCGATCTAGAAA	0.418																																						.											0													85	85	85					17																	10263502		2177	4294	6471	SO:0001583	missense	8735			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.509G>C	17.37:g.10263502C>G	ENSP00000404570:p.Arg170Pro		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062811	0.76187	.	.	ENSG00000006788	ENST00000252172	T	0.72942	-0.7	3.94	2.96	0.34315	Myosin head, motor domain (2);	.	.	.	.	D	0.86100	0.5852	M	0.92507	3.315	0.41551	D	0.988576	D	0.59357	0.985	D	0.77557	0.99	D	0.89034	0.3444	9	0.87932	D	0	.	12.3249	0.55005	0.0:0.9118:0.0:0.0882	.	170	Q9UKX3	MYH13_HUMAN	P	170	ENSP00000252172:R170P	ENSP00000252172:R170P	R	-	2	0	MYH13	10204227	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.790000	0.55461	2.194000	0.70268	0.655000	0.94253	CGA		0.418	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		G	10263502	C	G	10263502	3	3	4	1	0	0	0	0	1	0	0	0	10032	884	31	5	5451	5	MYH13	17	10263502	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		10263502	70931708	59	306											
ATP6V0A1	535	mdanderson.org	37	chr17	40666439	40666439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcctcctgatcatggAgggcctctcggcctttctcc	4	11	10	16	1	3	1	1	1	2	0	7	2	5	2	6	4	0	0	6	4	0	1			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr17:40666439A>G	ENST00000343619.4	+	21	2504	c.2381A>G	c.(2380-2382)gAg>gGg	p.E794G	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.E745G|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.E794G|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.E440G|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.E788G|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.E795G|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.E751G	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	794					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)		CTGATCATGGAGGGCCTCTCG	0.622																																						.											0													163	138	147					17																	40666439		2203	4300	6503	SO:0001583	missense	535			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.2381A>G	17.37:g.40666439A>G	ENSP00000342951:p.Glu794Gly		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977615	0.92982	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	H	0.97874	4.095	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	0.97859	1.0279	10	0.87932	D	0	-20.7555	14.0846	0.64947	1.0:0.0:0.0:0.0	.	745;751;795;794;788	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	G	794;794;788;795;745;440	ENSP00000342951:E794G;ENSP00000444676:E794G;ENSP00000377415:E788G;ENSP00000264649:E795G;ENSP00000443991:E745G;ENSP00000446377:E440G	ENSP00000264649:E795G	E	+	2	0	ATP6V0A1	37919965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	1.936000	0.56123	0.459000	0.35465	GAG		0.622	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		G	40666439	A	G	40666439	3	3	4	1	0	0	0	0	1	0	0	0	1168	304	11	2	2480	2	ATP6V0A1	17	40666439	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	30402937	40666439	40528771	60	307											
CARD14	79092	broad.mit.edu	37	chr17	78178060	78178060	+	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	accacagaagctggtccgcaTcgtcagtatggacaaagcca	13	6	10	12	2	1	1	1	0	0	1	3	2	2	2	3	2	2	3	3	2	3	1			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr17:78178060T>A	ENST00000573882.1	+	19	2854	c.2318T>A	c.(2317-2319)aTc>aAc	p.I773N	RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.I773N|RP11-334C17.5_ENST00000576824.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	773					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)			CTGGTCCGCATCGTCAGTATG	0.572																																						.											0													54	45	48					17																	78178060		2202	4299	6501	SO:0001583	missense	79092			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.2318T>A	17.37:g.78178060T>A	ENSP00000458715:p.Ile773Asn		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.689183	0.68271	.	.	ENSG00000141527	ENST00000344227	T	0.05580	3.42	4.08	4.08	0.47627	.	0.520215	0.19019	N	0.124877	T	0.18467	0.0443	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.02015	-1.1229	10	0.27082	T	0.32	-21.5192	12.0436	0.53466	0.0:0.0:0.0:1.0	.	773	Q9BXL6	CAR14_HUMAN	N	773	ENSP00000344549:I773N	ENSP00000344549:I773N	I	+	2	0	CARD14	75792655	0.968000	0.33430	0.999000	0.59377	0.978000	0.69477	4.578000	0.60929	1.490000	0.48466	0.383000	0.25322	ATC		0.572	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78178060	T	A	78178060	3	1	4	1	0	0	0	0	1	0	0	0	2646	1435	50	5	2545	5	CARD14	17	78178060	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	37511621	78178060	3017150	61	308											
ZNF676	163223	mdanderson.org	37	chr19	22363589	22363589	+	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	gctttgccacattcttcacaCttgtagggtttctctccagt	6	16	7	12	0	3	0	1	0	2	0	5	0	4	0	2	1	1	3	2	1	1	6	rs80146743	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr19:22363589C>T	ENST00000397121.2	-	3	1247	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	310					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)				ATTCTTCACACTTGTAGGGTT	0.443																																						.											0													66	69	68					19																	22363589		2091	4235	6326	SO:0001819	synonymous_variant	163223			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.930G>A	19.37:g.22363589C>T			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363589	C	T	22363589	2	4	4	1	0	0	0	0	0	0	0	1	18080	564	20	4		4	ZNF676	19	22363589	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10		22363589	36765394	62	309											
FCGBP	8857	broad.mit.edu	37	chr19	40396331	40396332	+	Frame_Shift_Ins	INS	-	-	C																															ccctcgggtgccgacaggctINScgggcagctcccaggacagg																										TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr19:40396331_40396332insC	ENST00000221347.6	-	15	7072_7073	c.7065_7066insG	c.(7063-7068)ccgagcfs	p.S2356fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2356	Cys-rich.|TIL 5.					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)			GCCGACAGGCTCGGGCAGCTCC	0.649																																						.											0																																										SO:0001589	frameshift_variant	8857			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.7066dupG	19.37:g.40396332_40396332dupC	ENSP00000221347:p.Ser2356fs		O95784	Frame_Shift_Ins	INS	ENST00000221347.6	37	CCDS12546.1																																																																																				0.649	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40396332	-	C	40396331	7	5	4	1	0	1	1	0	0	0	0	0	5778	1551	54	0	9239	0	FCGBP	19	40396331	Frame_Shift_Ins	INS	-	TCGA-KL-8326-01A-11D-2310-10	18032742	40396331	18732652	63	310											
C19orf41	126123	ucsc.edu	37	chr19	50666389	50666389	+	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	accaaggggtcgcactgcagGcagccccagcctccgggggc	7	3	15	16	2	0	0	0	0	0	0	2	0	1	0	5	5	3	3	5	5	1	0	rs61742305	byFrequency	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr19:50666389G>A	ENST00000293405.3	-	1	63	c.63C>T	c.(61-63)tgC>tgT	p.C21C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	21						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CGCACTGCAGGCAGCCCCAGC	0.706													G|||	587	0.117212	0.0159	0.1643	5008	,	,		12810	0.0625		0.2485	False		,,,				2504	0.1421					.											0								G		174,3710		4,166,1772	10	14	13		63	2.4	1	19	dbSNP_129	13	1851,6415		214,1423,2496	no	coding-synonymous	IZUMO2	NM_152358.2		218,1589,4268	AA,AG,GG		22.3929,4.4799,16.6667		21/222	50666389	2025,10125	1942	4133	6075	SO:0001819	synonymous_variant	126123			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.63C>T	19.37:g.50666389G>A			Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	ENST00000293405.3	37	CCDS12792.2																																																																																				0.706	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		A	50666389	G	A	50666389	2	1	4	1	0	0	0	0	0	0	0	1	1924	1195	42	3		3	C19orf41	19	50666389	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10	10270058	50666389	8462594	64	311											
JAG1	182	hgsc.bcm.edu;mdanderson.org	37	chr20	10626014	10626014	+	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	taccacttacgtgagtggcaGgtctttcctttccacccatt	7	14	7	13	1	1	1	0	1	1	0	3	1	3	1	4	2	2	1	4	2	2	5			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr20:10626014G>T	ENST00000254958.5	-	16	2618	c.2103C>A	c.(2101-2103)acC>acA	p.T701T	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.T542T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	701	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|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)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GTGAGTGGCAGGTCTTTCCTT	0.527									Alagille Syndrome																													.											0			GRCh37	CD994168	JAG1	D							153	147	149					20																	10626014		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2103C>A	20.37:g.10626014G>T			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																				0.527	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		T	10626014	G	T	10626014	2	4	4	1	0	0	0	0	0	0	0	1	7934	987	35	5		5	JAG1	20	10626014	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10		10626014	52399506	65	312											
KIAA1755	85449	broad.mit.edu;bcgsc.ca	37	chr20	36869241	36869241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttcagaggctgcagctGcaggagaagctggggacagg	9	8	17	7	0	1	2	1	0	0	2	1	4	1	3	0	5	4	6	0	5	1	2			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr20:36869241G>T	ENST00000279024.4	-	3	1563	c.1292C>A	c.(1291-1293)gCa>gAa	p.A431E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	431										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)				GGCTGCAGCTGCAGGAGAAGC	0.562																																						.											0													64	65	65					20																	36869241		2203	4300	6503	SO:0001583	missense	85449			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.1292C>A	20.37:g.36869241G>T	ENSP00000279024:p.Ala431Glu		Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	0.336	-0.953363	0.02285	.	.	ENSG00000149633	ENST00000279024	T	0.05382	3.45	4.18	-5.42	0.02640	.	1.213520	0.06010	N	0.649274	T	0.03095	0.0091	N	0.22421	0.69	0.09310	N	1	B	0.27498	0.18	B	0.23716	0.048	T	0.44097	-0.9350	10	0.02654	T	1	.	6.1358	0.20233	0.4644:0.3157:0.2199:0.0	.	431	Q5JYT7	K1755_HUMAN	E	431	ENSP00000279024:A431E	ENSP00000279024:A431E	A	-	2	0	KIAA1755	36302655	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.332000	0.07904	-0.796000	0.04456	-0.768000	0.03414	GCA		0.562	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36869241	G	T	36869241	3	4	4	1	0	0	0	0	1	0	0	0	8257	1319	46	5	2358	5	KIAA1755	20	36869241	Missense_Mutation	SNP	G	TCGA-KL-8326-01A-11D-2310-10	26243227	36869241	26156279	66	313											
SLC35C2	51006	broad.mit.edu	37	chr20	44984494	44984494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgaagaggacagctgAggatttggtcattgtgtacc	12	10	13	6	0	1	4	1	2	0	2	1	6	1	6	1	3	2	2	1	3	3	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr20:44984494A>G	ENST00000372227.1	-	5	895	c.355T>C	c.(355-357)Tca>Cca	p.S119P	SLC35C2_ENST00000372230.5_Missense_Mutation_p.S119P|SLC35C2_ENST00000317734.8_Missense_Mutation_p.S119P|SLC35C2_ENST00000243896.2_Missense_Mutation_p.S119P|SLC35C2_ENST00000543605.1_Missense_Mutation_p.S148P|SLC35C2_ENST00000493599.1_5'Flank|SLC35C2_ENST00000372229.1_Intron	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	119					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGGACAGCTGAGGATTTGGTC	0.527																																						.											0													151	141	145					20																	44984494		2203	4300	6503	SO:0001583	missense	51006				CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"Solute carriers"	17117	protein-coding gene	gene with protein product			"ovarian cancer overexpressed 1", "solute carrier family 35, member C2"	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.355T>C	20.37:g.44984494A>G	ENSP00000361301:p.Ser119Pro		B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109718	0.77096	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372230;ENST00000543605	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.999;1.0	D;P;D;D	0.79108	0.992;0.763;0.991;0.963	D	0.94860	0.8021	10	0.56958	D	0.05	.	14.3057	0.66384	1.0:0.0:0.0:0.0	.	148;5;119;119	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	P	119;119;119;119;148	ENSP00000318960:S119P;ENSP00000243896:S119P;ENSP00000361301:S119P;ENSP00000361304:S119P;ENSP00000439974:S148P	ENSP00000243896:S119P	S	-	1	0	SLC35C2	44417901	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.269000	0.72558	2.217000	0.71921	0.533000	0.62120	TCA		0.527	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		G	44984494	A	G	44984494	3	3	4	1	0	0	0	0	1	0	0	0	14580	304	11	2	766	2	SLC35C2	20	44984494	Missense_Mutation	SNP	A	TCGA-KL-8326-01A-11D-2310-10	8115253	44984494	18041026	67	314											
ELFN2	114794	ucsc.edu	37	chr22	37769129	37769129	+	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	gggtcacagcttctgctgggCggagacccccttccagtaat	7	9	12	13	1	2	1	1	0	1	1	3	2	3	1	3	3	2	3	3	3	1	3	rs61737924		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr22:37769129C>T	ENST00000402918.2	-	3	3231	c.2446G>A	c.(2446-2448)Gcc>Acc	p.A816T	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	816					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)					TTCTGCTGGGCGGAGACCCCC	0.662																																						.											0													57	52	54					22																	37769129		2203	4300	6503	SO:0001583	missense	114794			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.2446G>A	22.37:g.37769129C>T	ENSP00000385277:p.Ala816Thr		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913449	0.92178	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.67171	-0.25;-0.25	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.77422	-0.2594	10	0.87932	D	0	-33.9132	17.8461	0.88730	0.0:1.0:0.0:0.0	.	816	Q5R3F8	PPR29_HUMAN	T	816	ENSP00000300147:A816T;ENSP00000385277:A816T	ENSP00000300147:A816T	A	-	1	0	ELFN2	36099075	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.575000	0.82447	2.265000	0.75225	0.561000	0.74099	GCC		0.662	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		T	37769129	C	T	37769129	3	4	4	1	0	0	0	0	1	0	0	0	5058	768	27	1	20	1	ELFN2	22	37769129	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10		37769129	13535437	68	315											
TYMP	1890	broad.mit.edu	37	chr22	50965605	50965605	+	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	accgctcaccagcgtctttgCcagctcccgggcctgctcct	4	9	9	19	3	2	0	1	0	1	0	4	0	4	0	6	1	4	3	6	1	0	1			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr22:50965605C>T	ENST00000252029.3	-	6	916	c.754G>A	c.(754-756)Gca>Aca	p.A252T	SCO2_ENST00000252785.3_5'Flank|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Missense_Mutation_p.A252T|SCO2_ENST00000395693.3_5'Flank|CTA-384D8.36_ENST00000608319.1_RNA|TYMP_ENST00000395680.1_Missense_Mutation_p.A252T|TYMP_ENST00000395681.1_Missense_Mutation_p.A252T|SCO2_ENST00000535425.1_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	252					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)	AGCGTCTTTGCCAGCTCCCGG	0.652																																						.											0													34	35	34					22																	50965605		2201	4300	6501	SO:0001583	missense	1890			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.754G>A	22.37:g.50965605C>T	ENSP00000252029:p.Ala252Thr		A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503085	0.85176	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03	4.6	3.56	0.40772	Glycosyl transferase, family 3 (3);	0.126268	0.51477	D	0.000099	D	0.99396	0.9787	H	0.98218	4.175	0.46222	D	0.998934	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68943	0.961;0.961;0.961	D	0.98541	1.0632	10	0.87932	D	0	-1.5027	12.6632	0.56826	0.0:0.8318:0.1682:0.0	.	252;252;252	B2RBL3;E5KRG5;P19971	.;.;TYPH_HUMAN	T	252;252;252;252;219	ENSP00000379037:A252T;ENSP00000379038:A252T;ENSP00000252029:A252T;ENSP00000379036:A252T;ENSP00000395875:A219T	ENSP00000252029:A252T	A	-	1	0	TYMP	49312471	1.000000	0.71417	0.972000	0.41901	0.695000	0.40330	6.059000	0.71133	1.047000	0.40274	0.561000	0.74099	GCA		0.652	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		T	50965605	C	T	50965605	3	4	4	1	0	0	0	0	1	0	0	0	16808	739	26	3	714	3	TYMP	22	50965605	Missense_Mutation	SNP	C	TCGA-KL-8326-01A-11D-2310-10	13196476	50965605	338961	69	316											
DUSP21	63904	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	44703528	44703528	+	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	tccagcaatcgcatcaccgcCattgtcaatgcctcggtgga	9	9	9	14	3	2	0	2	0	0	0	5	1	3	1	4	2	2	2	4	2	2	1			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:44703528C>T	ENST00000339042.4	+	1	280	c.150C>T	c.(148-150)gcC>gcT	p.A50A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	50	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GCATCACCGCCATTGTCAATG	0.512																																						.											0													169	131	144					X																	44703528		2203	4300	6503	SO:0001819	synonymous_variant	63904			AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.150C>T	X.37:g.44703528C>T			Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	CCDS14264.1																																																																																				0.512	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		T	44703528	C	T	44703528	2	4	4	1	0	0	0	0	0	0	0	1	4820	581	21	4		4	DUSP21	23	44703528	Silent	SNP	C	TCGA-KL-8326-01A-11D-2310-10		44703528	110567032	70	317											
PJA1	64219	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	68382228	68382228	+	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	ccctccacctggaagtactgTgtggcatatcgtcatcatca	9	11	8	13	1	3	0	3	0	0	0	5	1	4	1	3	2	1	2	3	2	3	2			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:68382228T>A	ENST00000361478.1	-	2	1231	c.854A>T	c.(853-855)cAc>cTc	p.H285L	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.H230L|PJA1_ENST00000374583.1_Missense_Mutation_p.H285L|PJA1_ENST00000374584.3_Intron	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	285					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						GGAAGTACTGTGTGGCATATC	0.502																																						.											0													84	71	75					X																	68382228		2203	4300	6503	SO:0001583	missense	64219			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.854A>T	X.37:g.68382228T>A	ENSP00000355014:p.His285Leu		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	t	8.610	0.888911	0.17540	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.05258	3.47;3.47;3.47	3.07	1.87	0.25490	.	0.649262	0.13314	U	0.397237	T	0.08403	0.0209	L	0.44542	1.39	0.09310	N	1	D	0.59357	0.985	P	0.49477	0.612	T	0.26018	-1.0115	10	0.66056	D	0.02	-2.1912	4.5018	0.11867	0.0:0.1598:0.0:0.8402	.	285	Q8NG27	PJA1_HUMAN	L	200;285;285;230	ENSP00000363711:H285L;ENSP00000355014:H285L;ENSP00000363699:H230L	ENSP00000355014:H285L	H	-	2	0	PJA1	68298953	0.984000	0.35163	0.168000	0.22838	0.721000	0.41392	1.590000	0.36654	0.433000	0.26313	0.299000	0.19835	CAC		0.502	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		A	68382228	T	A	68382228	3	1	4	1	0	0	0	0	1	0	0	0	11961	1696	59	5	1081	5	PJA1	23	68382228	Missense_Mutation	SNP	T	TCGA-KL-8326-01A-11D-2310-10	23678700	68382228	86888332	71	318											
PCDH11X	27328	broad.mit.edu	37	chrX	91090725	91090725	+	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	aagaccggagatgtgccactGattcgaattgaagaggatac	14	8	12	7	2	0	5	0	2	0	3	1	8	0	6	2	2	2	0	2	2	4	3			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:91090725G>T	ENST00000373094.1	+	1	1067	c.222G>T	c.(220-222)ctG>ctT	p.L74L	PCDH11X_ENST00000373088.1_Silent_p.L74L|PCDH11X_ENST00000298274.8_Silent_p.L74L|PCDH11X_ENST00000361724.1_Silent_p.L74L|PCDH11X_ENST00000406881.1_Silent_p.L74L|PCDH11X_ENST00000373097.1_Silent_p.L74L|PCDH11X_ENST00000395337.2_Silent_p.L74L|PCDH11X_ENST00000504220.2_Silent_p.L74L|PCDH11X_ENST00000361655.2_Silent_p.L74L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGTGCCACTGATTCGAATTG	0.453																																					NSCLC(38;925 1092 2571 38200 45895)	.											0													190	159	169					X																	91090725		2203	4300	6503	SO:0001819	synonymous_variant	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.222G>T	X.37:g.91090725G>T			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																				0.453	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91090725	G	T	91090725	2	4	4	1	0	0	0	0	0	0	0	1	11508	1277	45	5		5	PCDH11X	23	91090725	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10	22708497	91090725	64179835	72	319											
CXorf66	347487	hgsc.bcm.edu;mdanderson.org	37	chrX	139038874	139038874	+	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	aatgatgttttagatgacttGgctgctatgccttttttctt	7	20	8	6	0	1	3	0	2	1	1	1	3	1	3	1	1	2	3	1	1	3	8			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:139038874G>A	ENST00000370540.1	-	3	290	c.267C>T	c.(265-267)gcC>gcT	p.A89A		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	89						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TAGATGACTTGGCTGCTATGC	0.378																																						.											0													142	124	130					X																	139038874		2203	4300	6503	SO:0001819	synonymous_variant	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.267C>T	X.37:g.139038874G>A				Silent	SNP	ENST00000370540.1	37	CCDS35411.1																																																																																				0.378	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		A	139038874	G	A	139038874	2	1	4	1	0	0	0	0	0	0	0	1	4118	1335	47	4		4	CXorf66	23	139038874	Silent	SNP	G	TCGA-KL-8326-01A-11D-2310-10	47948149	139038874	16231686	73	320											
HOOK1	51361	broad.mit.edu	37	chr1	60314061	60314061	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctacaagatctgaatgAccttcgcaagcaggtgaaaa	16	7	10	8	1	1	4	0	3	1	1	2	5	1	4	1	1	3	3	1	1	7	2			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:60314061A>G	ENST00000371208.3	+	11	1261	c.1004A>G	c.(1003-1005)gAc>gGc	p.D335G	HOOK1_ENST00000395561.2_Missense_Mutation_p.D293G|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	335	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GATCTGAATGACCTTCGCAAG	0.363																																						.											0													89	85	87					1																	60314061		2203	4300	6503	SO:0001583	missense	51361			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1004A>G	1.37:g.60314061A>G	ENSP00000360252:p.Asp335Gly		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719856	0.89205	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.27557	1.66;1.66	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.53019	-0.8497	10	0.22109	T	0.4	.	16.3432	0.83101	1.0:0.0:0.0:0.0	.	335	Q9UJC3	HOOK1_HUMAN	G	335;293	ENSP00000360252:D335G;ENSP00000378928:D293G	ENSP00000360252:D335G	D	+	2	0	HOOK1	60086649	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.730000	0.91510	2.263000	0.75096	0.377000	0.23210	GAC		0.363	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		G	60314061	A	G	60314061	3	3	5	1	0	0	0	0	1	0	0	0	7282	275	10	2	1046	2	HOOK1	1	60314061	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10		60314061	188936560	1	321											
FAM189B	10712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	155221684	155221684	+	Missense_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	cagtgggcctgagactgaccGctcaggggccagctgctggg	6	6	17	12	1	1	2	1	2	0	1	1	3	1	2	3	4	2	3	3	4	0	0	rs534103219		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:155221684G>A	ENST00000361361.2	-	6	1143	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Missense_Mutation_p.R194W|FAM189B_ENST00000350210.2_Missense_Mutation_p.R116W	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	212						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGACTGACCGCTCAGGGGCC	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		11922	0		0	False		,,,				2504	0					.											0																																										SO:0001583	missense	10712			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.634C>T	1.37:g.155221684G>A	ENSP00000354958:p.Arg212Trp		B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551615	0.86127	.	.	ENSG00000160767	ENST00000350210;ENST00000333966;ENST00000368368;ENST00000361361;ENST00000491082	T;T;T;T	0.03689	3.84;3.88;3.84;3.84	4.32	4.32	0.51571	.	0.229602	0.39146	N	0.001442	T	0.03827	0.0108	L	0.45352	1.415	0.40489	D	0.980527	D;D;D	0.64830	0.991;0.994;0.978	P;P;P	0.51016	0.549;0.656;0.451	T	0.40646	-0.9552	10	0.87932	D	0	.	12.5139	0.56021	0.0:0.0:1.0:0.0	.	194;116;212	B1AVS5;P81408-2;P81408	.;.;F189B_HUMAN	W	116;116;194;212;116	ENSP00000307128:R116W;ENSP00000357352:R194W;ENSP00000354958:R212W;ENSP00000427011:R116W	ENSP00000333944:R116W	R	-	1	2	FAM189B	153488308	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.671000	0.83941	2.403000	0.81681	0.561000	0.74099	CGG		0.617	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		A	155221684	G	A	155221684	3	1	5	1	0	0	0	0	1	0	0	0	5517	1086	38	1	1400	1	FAM189B	1	155221684	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	94907623	155221684	94028937	2	322											
ASTN1	460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	176915167	176915167	+	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	ggttcatgggaagctccctgCtttccccacagtcacttccc	6	11	8	16	0	2	0	2	0	0	0	5	1	5	1	4	2	2	3	4	2	1	3	rs202163703		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:176915167C>T	ENST00000367654.3	-	13	2379	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S715N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S715N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S715N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	723					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						AAGCTCCCTGCTTTCCCCACA	0.537																																						.											0													114	106	109					1																	176915167		2203	4300	6503	SO:0001583	missense	460			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.2168G>A	1.37:g.176915167C>T	ENSP00000356626:p.Ser723Asn		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	12.15	1.852937	0.32699	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15256	2.44;2.86;2.86;2.44	5.25	4.34	0.51931	.	0.308242	0.40385	N	0.001120	T	0.06645	0.0170	N	0.03608	-0.345	0.26601	N	0.97302	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21793	-1.0235	10	0.34782	T	0.22	-11.2963	5.3714	0.16142	0.1496:0.629:0.1443:0.0771	.	723;715;715	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	715;715;723;715;715	ENSP00000356629:S715N;ENSP00000354536:S715N;ENSP00000356626:S723N;ENSP00000395041:S715N	ENSP00000354536:S715N	S	-	2	0	ASTN1	175181790	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.890000	0.39728	1.212000	0.43366	0.655000	0.94253	AGC		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176915167	C	T	176915167	3	4	5	1	0	0	0	0	1	0	0	0	1064	797	28	4	1788	4	ASTN1	1	176915167	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	21693483	176915167	72335454	3	323											
LMOD1	25802	broad.mit.edu	37	chr1	201868999	201868999	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttggccttgagcatgAtggcaatggcaaaggccacg	9	10	13	9	1	1	2	0	2	1	0	1	2	1	2	2	4	1	4	2	4	2	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:201868999A>G	ENST00000367288.4	-	2	1388	c.1142T>C	c.(1141-1143)aTc>aCc	p.I381T	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	381					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGAGCATGATGGCAATGGC	0.567																																						.											0													119	121	120					1																	201868999		2183	4265	6448	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1142T>C	1.37:g.201868999A>G	ENSP00000356257:p.Ile381Thr		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545378	0.45280	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91237	-2.81	4.47	4.47	0.54385	.	0.000000	0.40818	N	0.001006	T	0.79730	0.4496	L	0.29908	0.895	0.37645	D	0.922186	P;P	0.39094	0.47;0.659	B;B	0.32211	0.105;0.142	T	0.77024	-0.2741	10	0.15499	T	0.54	-28.3589	6.7159	0.23302	0.8923:0.0:0.1077:0.0	.	330;381	B4E3S9;P29536	.;LMOD1_HUMAN	T	381;381;330	ENSP00000356257:I381T	ENSP00000356257:I381T	I	-	2	0	LMOD1	200135622	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.114000	0.41911	1.626000	0.50381	0.491000	0.48974	ATC		0.567	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			G	201868999	A	G	201868999	3	3	5	1	0	0	0	0	1	0	0	0	8856	333	12	4	668	4	LMOD1	1	201868999	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	24953832	201868999	47381622	4	324											
EXOC8	149371	broad.mit.edu;mdanderson.org	37	chr1	231471905	231471905	+	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	ccgatatcacccagttgctgGcaatgctccttagccacttt	8	12	7	14	1	1	0	1	0	0	0	2	1	2	0	4	1	3	4	4	1	3	4			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr1:231471905G>A	ENST00000360394.2	-	1	1673	c.1587C>T	c.(1585-1587)tgC>tgT	p.C529C	EXOC8_ENST00000366645.1_Silent_p.C525C|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	529					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)				CCAGTTGCTGGCAATGCTCCT	0.483																																						.											0													123	106	112					1																	231471905		2203	4300	6503	SO:0001819	synonymous_variant	149371			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.1587C>T	1.37:g.231471905G>A			B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	CCDS1593.1																																																																																				0.483	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		A	231471905	G	A	231471905	2	1	5	1	0	0	0	0	0	0	0	1	5311	1195	42	3		3	EXOC8	1	231471905	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10	29602906	231471905	17778716	5	325											
SLC3A1	6519	ucsc.edu	37	chr2	44528268	44528268	+	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	1	0	0	0	0	0	0	cggagcccggcagatacaggTtgaccacggcatatgctctc	9	7	12	13	3	1	2	0	1	1	1	2	3	1	3	2	4	3	4	2	4	2	3	rs556841667|rs61179824	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr2:44528268T>G	ENST00000260649.6	+	6	1212		c.e6+2		SLC3A1_ENST00000409387.1_Splice_Site|SLC3A1_ENST00000409741.1_Splice_Site|SLC3A1_ENST00000410056.3_Missense_Mutation_p.L380V|SLC3A1_ENST00000409229.3_Splice_Site|SLC3A1_ENST00000409740.3_5'Flank|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409380.1_Splice_Site	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAGATACAGGTTGACCACGGC	0.507																																						.											0			GRCh37	CS013629	SLC3A1	S	rs146125507						78	75	76					2																	44528268		2170	4288	6458	SO:0001630	splice_region_variant	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1136+2T>G	2.37:g.44528268T>G			A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Splice_Site	SNP	ENST00000260649.6	37	CCDS1819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	1.259|1.259	-0.616384|-0.616384	0.03663|0.03663	.|.	.|.	ENSG00000138079|ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380|ENST00000410056	.|D	.|0.99176	.|-5.52	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.96204	.|0.8762	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.21151	.|0.033	.|D	.|0.90530	.|0.4495	.|5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|380	.|Q4J6B8	.|.	.|V	-1|380	.|ENSP00000387337:L380V	.|.	.|L	+|+	.|1	.|2	SLC3A1|SLC3A1	44381772|44381772	0.999000|0.999000	0.42202|0.42202	0.922000|0.922000	0.36590|0.36590	0.142000|0.142000	0.21351|0.21351	0.000000|0.000000	0.12993|0.12993	0.000000|0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	.|TTG		0.507	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	Intron	G	44528268	T	G	44528268	5	3	5	1	0	0	0	0	0	0	1	0	14626	1739	60	5	1160	5	SLC3A1	2	44528268	Splice_Site	SNP	T	TCGA-KL-8327-01A-11D-2310-10		44528268	198671105	6	326											
POTEF	728378	mdanderson.org	37	chr2	130833115	130833115	+	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	cgtactattttcatgcaagaTgtctttttctttcttacaac	9	19	4	9	1	4	1	1	0	3	1	4	1	4	1	0	0	4	2	0	0	5	8			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr2:130833115T>A	ENST00000409914.2	-	17	2329	c.1930A>T	c.(1930-1932)Atc>Ttc	p.I644F	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000357462.5_Missense_Mutation_p.I644F|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	644					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						TCATGCAAGATGTCTTTTTCT	0.338																																						.											0													30	32	32					2																	130833115		1961	4180	6141	SO:0001583	missense	728378			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.1930A>T	2.37:g.130833115T>A	ENSP00000386786:p.Ile644Phe		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.630147	0.00115	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.76709	-1.04;-1.04	0.993	0.0565	0.14319	.	.	.	.	.	T	0.51924	0.1703	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.30238	-0.9985	9	0.32370	T	0.25	.	2.5633	0.04777	0.1876:0.0:0.3253:0.487	.	644	A5A3E0	POTEF_HUMAN	F	644	ENSP00000350052:I644F;ENSP00000386786:I644F	ENSP00000350052:I644F	I	-	1	0	POTEF	130549585	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.017000	0.13399	-0.445000	0.07159	-3.433000	0.00037	ATC		0.338	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130833115	T	A	130833115	3	1	5	1	0	0	0	0	1	0	0	0	12265	1464	51	5	1301	5	POTEF	2	130833115	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	86304847	130833115	112366258	7	327											
DNAH1	25981	bcgsc.ca	37	chr3	52387428	52387428	+	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	tggccttggacatccgggccCgcatcgaggagttcaaacca	9	7	12	13	3	1	0	1	0	0	0	3	3	2	2	4	4	1	2	4	4	1	2	rs540247484		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr3:52387428C>T	ENST00000420323.2	+	20	3520	c.3259C>T	c.(3259-3261)Cgc>Tgc	p.R1087C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1087	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCGGGCCCGCATCGAGGA	0.617													C|||	1	0.000199681	0	0	5008	,	,		21226	0		0.001	False		,,,				2504	0					.											0													61	67	65					3																	52387428		2075	4190	6265	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3259C>T	3.37:g.52387428C>T	ENSP00000401514:p.Arg1087Cys		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233992	0.79688	.	.	ENSG00000114841	ENST00000420323	T	0.61742	0.08	5.53	3.54	0.40534	.	0.124980	0.31936	N	0.006825	T	0.72455	0.3462	M	0.78285	2.405	0.46096	D	0.998864	D;D	0.69078	0.995;0.997	P;P	0.61658	0.892;0.827	T	0.77305	-0.2637	10	0.72032	D	0.01	.	14.6023	0.68450	0.2298:0.7702:0.0:0.0	.	1087;1087	C9JXH6;Q9P2D7-3	.;.	C	1087	ENSP00000401514:R1087C	ENSP00000401514:R1087C	R	+	1	0	DNAH1	52362468	0.909000	0.30893	0.999000	0.59377	0.995000	0.86356	1.956000	0.40382	2.597000	0.87782	0.655000	0.94253	CGC		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52387428	C	T	52387428	3	4	5	1	0	0	0	0	1	0	0	0	4597	652	23	1	3333	1	DNAH1	3	52387428	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		52387428	145635002	8	328											
CORIN	10699	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr4	47667069	47667069	+	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	ctgcaaggagggatatgctcGcctgtattcacatcacattt	10	12	9	10	1	2	0	2	0	0	0	3	2	2	2	1	2	2	3	1	2	3	4	rs61760489		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr4:47667069G>A	ENST00000273857.4	-	11	1568	c.1569C>T	c.(1567-1569)ggC>ggT	p.G523G	CORIN_ENST00000505909.1_Silent_p.G486G|CORIN_ENST00000504584.1_Silent_p.G486G|CORIN_ENST00000502252.1_Silent_p.G456G|CORIN_ENST00000508498.1_Silent_p.G384G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	523	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGATATGCTCGCCTGTATTCA	0.423																																						.											0								G		0,4406		0,0,2203	81	82	82		1569	1.5	0.1	4	dbSNP_129	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CORIN	NM_006587.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		523/1043	47667069	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1569C>T	4.37:g.47667069G>A			B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																				0.423	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			A	47667069	G	A	47667069	2	1	5	1	0	0	0	0	0	0	0	1	3752	1074	38	1		1	CORIN	4	47667069	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		47667069	143487207	9	329											
DSPP	1834	bcgsc.ca	37	chr4	88536234	88536239	+	In_Frame_Del	DEL	AGTGAT	AGTGAT	-																															cagtgatagcagcaacagcaGtgatagcagtgatagcagtg																								rs555978267	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	AGTGAT	AGTGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr4:88536234_88536239delAGTGAT	ENST00000282478.7	+	4	2453_2458	c.2420_2425delAGTGAT	c.(2419-2427)aagtgatgc>agc	p.807_809K*C>S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.807_809K*C>S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	807	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)		agcaacagcagtgatagcagtgatag	0.49																																						.											0																																										SO:0001651	inframe_deletion	1834			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.2420_2425delAGTGAT	4.37:g.88536234_88536239delAGTGAT	ENSP00000282478:p.Lys807_Cys809delinsSer		A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																				0.49	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88536239	AGTGAT	-	88536234	7	5	5	1	0	1	0	1	0	0	0	0	4782	1029	36	0	2434	0	DSPP	4	88536234	In_Frame_Del	DEL	AGTGAT	TCGA-KL-8327-01A-11D-2310-10	40869165	88536234	102618042	10	330											
PCDHB10	56126	bcgsc.ca	37	chr5	140573754	140573754	+	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	ggctcccccgcgctgagcagAgaggcgctggtgcgcgtgct	4	6	17	14	5	0	2	0	1	0	1	1	3	1	2	2	3	3	5	2	3	0	0	rs702386		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr5:140573754A>C	ENST00000239446.4	+	1	1813	c.1629A>C	c.(1627-1629)agA>agC	p.R543S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> S (in Ref. 2; AAK51616). {ECO:0000305}.	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)			CGCTGAGCAGAGAGGCGCTGG	0.701																																						.											0													37	53	47					5																	140573754		2191	4291	6482	SO:0001583	missense	56126			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.1629A>C	5.37:g.140573754A>C	ENSP00000239446:p.Arg543Ser		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	1085	0.4967948717948718	272	0.5528455284552846	171	0.4723756906077348	330	0.5769230769230769	312	0.41160949868073876	a	3.278	-0.147626	0.06627	.	.	ENSG00000120324	ENST00000239446	T	0.46063	0.88	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00005	-3.295	0.50467	P	1.2299999999998423E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	8	0.02654	T	1	.	7.2252	0.26012	0.1715:0.7353:0.0:0.0932	rs702386;rs17844583	543	Q9UN67	PCDBA_HUMAN	S	543	ENSP00000239446:R543S	ENSP00000239446:R543S	R	+	3	2	PCDHB10	140553938	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.307000	0.19296	0.852000	0.35287	-0.233000	0.12211	AGA		0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140573754	A	C	140573754	3	2	5	1	0	0	0	0	1	0	0	0	11535	301	11	5	1631	5	PCDHB10	5	140573754	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10		140573754	40341506	11	331											
CSF1R	1436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	149460495	149460495	+	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	tggggggccatcccattccaCgctgccattgcccacacatc	7	8	9	17	1	0	0	0	0	0	0	3	0	2	0	5	3	2	1	5	3	0	2			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr5:149460495C>T	ENST00000286301.3	-	3	433	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	CSF1R_ENST00000543093.1_Missense_Mutation_p.V48M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	48	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCCCATTCCACGCTGCCATTG	0.597																																						.											0													126	88	101					5																	149460495		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.142G>A	5.37:g.149460495C>T	ENSP00000286301:p.Val48Met		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594279	0.46214	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.35236	1.32;1.32	5.76	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000146	T	0.60612	0.2282	M	0.88704	2.975	0.49051	D	0.999749	D;D;D	0.89917	1.0;1.0;0.998	P;P;B	0.60609	0.876;0.877;0.435	T	0.68138	-0.5488	10	0.87932	D	0	.	11.0419	0.47835	0.0:0.9135:0.0:0.0865	.	48;48;48	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	M	48	ENSP00000286301:V48M;ENSP00000445282:V48M	ENSP00000286301:V48M	V	-	1	0	CSF1R	149440688	0.882000	0.30256	0.871000	0.34182	0.140000	0.21249	1.419000	0.34793	1.432000	0.47375	0.655000	0.94253	GTG		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		T	149460495	C	T	149460495	3	4	5	1	0	0	0	0	1	0	0	0	3932	536	19	1	2856	1	CSF1R	5	149460495	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	8886741	149460495	31454765	12	332											
BEND6	221336	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	56846621	56846621	+	Missense_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	ttgagaaaatgcagaagatcGtgcagacagatgaaattacc	17	8	10	6	1	0	6	0	2	0	5	1	7	0	6	1	0	3	2	1	0	5	2	rs199964177	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr6:56846621G>A	ENST00000370746.3	+	2	282	c.13G>A	c.(13-15)Gtg>Atg	p.V5M	BEND6_ENST00000370748.3_Missense_Mutation_p.V5M|BEND6_ENST00000370745.1_Missense_Mutation_p.V5M|BEND6_ENST00000370750.2_Missense_Mutation_p.V5M	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	5					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAGAAGATCGTGCAGACAGA	0.368													T|||	3	0.000599042	0	0	5008	,	,		16669	0		0.003	False		,,,				2504	0					.											0								T	MET/VAL	1,3705		0,1,1852	142	139	140		13	3.9	1	6		140	5,8171		0,5,4083	yes	missense	BEND6	NM_152731.2	21	0,6,5935	AA,AG,GG		0.0612,0.027,0.0505	benign	5/280	56846621	6,11876	1853	4088	5941	SO:0001583	missense	221336			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.13G>A	6.37:g.56846621G>A	ENSP00000359782:p.Val5Met		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	CCDS43476.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	19.58	3.854945	0.71719	2.7E-4	6.12E-4	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.04	3.87	0.44632	.	0.780519	0.11165	N	0.592652	T	0.14787	0.0357	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10753	-1.0616	9	0.66056	D	0.02	0.6866	5.0573	0.14539	0.0:0.1493:0.165:0.6857	.	5	Q5SZJ8	BEND6_HUMAN	M	5	.	ENSP00000322773:V5M	V	+	1	0	BEND6	56954580	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.487000	0.35540	0.869000	0.35703	-0.264000	0.10439	GTG		0.368	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		A	56846621	G	A	56846621	3	1	5	1	0	0	0	0	1	0	0	0	1402	1145	40	1	15	1	BEND6	6	56846621	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		56846621	114268446	13	333											
NT5DC1	221294	broad.mit.edu	37	chr6	116560197	116560197	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagttttgggactggaaaAtacagaagactccttggttt	11	14	10	6	0	1	2	1	0	0	2	2	4	2	4	1	3	1	2	1	3	4	6			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr6:116560197A>G	ENST00000319550.4	+	11	1245	c.1163A>G	c.(1162-1164)aAt>aGt	p.N388S		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	388							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GGACTGGAAAATACAGAAGAC	0.363																																					Colon(128;1440 1664 38087 41475 42869)	.											0													88	94	92					6																	116560197		2203	4300	6503	SO:0001583	missense	221294			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic II-like 1"	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.1163A>G	6.37:g.116560197A>G	ENSP00000326858:p.Asn388Ser		B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	A	8.876	0.950369	0.18431	.	.	ENSG00000178425	ENST00000319550	T	0.21361	2.01	5.05	2.56	0.30785	HAD-like domain (1);	0.552002	0.21299	N	0.076821	T	0.06371	0.0164	L	0.55103	1.725	0.28488	N	0.914632	B;B;B	0.15473	0.013;0.003;0.003	B;B;B	0.12156	0.007;0.003;0.003	T	0.33727	-0.9857	10	0.30078	T	0.28	-11.7868	5.3704	0.16136	0.6976:0.1474:0.1549:0.0	.	338;388;388	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	S	388	ENSP00000326858:N388S	ENSP00000326858:N388S	N	+	2	0	NT5DC1	116666890	0.985000	0.35326	0.306000	0.25113	0.675000	0.39556	1.437000	0.34991	0.332000	0.23536	0.533000	0.62120	AAT		0.363	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		G	116560197	A	G	116560197	3	3	5	1	0	0	0	0	1	0	0	0	10690	101	4	4	1205	4	NT5DC1	6	116560197	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	59713576	116560197	54554870	14	334											
TNRC18	84629	mdanderson.org	37	chr7	5352659	5352659	+	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	gaggaggaggaggaggaggaGgaggatgaggaggaggagga	14	1	26	0	0	0	1	0	1	0	0	0	14	0	13	0	12	0	0	0	12	0	0	rs138591330	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr7:5352659G>T	ENST00000430969.1	-	27	8211	c.7863C>A	c.(7861-7863)tcC>tcA	p.S2621S	TNRC18_ENST00000399537.4_Silent_p.S2621S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2621	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)		aggaggaggaggaggatgagg	0.652													G|||	2190	0.4373	0.5076	0.5274	5008	,	,		5586	0.246		0.508	False		,,,				2504	0.4029					.											0													5	8	7					7																	5352659		1382	3171	4553	SO:0001819	synonymous_variant	84629			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.7863C>A	7.37:g.5352659G>T			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	760	0.34798534798534797	201	0.40853658536585363	151	0.4171270718232044	104	0.18181818181818182	304	0.40105540897097625	N	0.009	-1.858244	0.00558	.	.	ENSG00000182095	ENST00000399544	.	.	.	4.17	-1.59	0.08453	.	0.589271	0.12916	N	0.428578	T	0.00012	0.0000	.	.	.	0.34255	P	0.32071700000000003	.	.	.	.	.	.	T	0.40776	-0.9545	5	0.87932	D	0	.	4.5564	0.12138	0.3329:0.0:0.5125:0.1546	.	.	.	.	H	1134	.	ENSP00000382459:P1134H	P	-	2	0	TNRC18	5319185	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	0.742000	0.26216	-0.333000	0.08476	-1.713000	0.00713	CCT		0.652	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5352659	G	T	5352659	2	4	5	1	0	0	0	0	0	0	0	1	16336	987	35	5		5	TNRC18	7	5352659	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		5352659	153786004	15	335											
FAM86B1	85002	mdanderson.org	37	chr8	12043930	12043930	+	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	tgctacgtcccagtccagctGggccactgtcaccctggggc	5	8	12	16	1	1	0	1	0	0	0	3	0	3	0	4	3	3	2	4	3	1	1			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr8:12043930G>A	ENST00000448228.2	-	5	620	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000534520.1_Intron|FAM86B1_ENST00000533852.2_Nonsense_Mutation_p.Q225*	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	191										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CAGTCCAGCTGGGCCACTGTC	0.592																																						.											0													7	8	8					8																	12043930		1221	2229	3450	SO:0001587	stop_gained	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.571C>T	8.37:g.12043930G>A	ENSP00000407067:p.Gln191*			Nonsense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.	.	.	.	.	.	.	.	.	.	-	16.62	3.173813	0.57692	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	.	.	.	1.17	0.238	0.15480	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	2.6938	0.05128	0.2202:0.3077:0.4722:0.0	.	.	.	.	X	225;191;225	.	ENSP00000444227:Q225X	Q	-	1	0	FAM86B1	12081339	1.000000	0.71417	0.887000	0.34795	0.409000	0.31022	1.640000	0.37186	0.068000	0.16574	0.173000	0.16961	CAG		0.592	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		A	12043930	G	A	12043930	4	1	5	1	0	0	0	0	0	1	0	0	5644	1357	47	4	331	4	FAM86B1	8	12043930	Nonsense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		12043930	134320092	16	336											
SNX31	169166	broad.mit.edu	37	chr8	101661717	101661717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggaccgctgctgggacAccgggatacagaaatgcatc	10	6	13	12	4	0	1	0	0	0	1	2	4	0	4	2	3	3	3	2	3	2	1			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr8:101661717A>G	ENST00000311812.2	-	1	176	c.26T>C	c.(25-27)gTg>gCg	p.V9A		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	9	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTGCTGGGACACCGGGATACA	0.692																																						.											0													11	14	13					8																	101661717		2094	4210	6304	SO:0001583	missense	169166				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.26T>C	8.37:g.101661717A>G	ENSP00000312368:p.Val9Ala		C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.526544	0.64860	.	.	ENSG00000174226	ENST00000311812	T	0.34859	1.34	4.5	3.29	0.37713	Phox homologous domain (4);	0.000000	0.53938	D	0.000051	T	0.42765	0.1217	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	P	0.54815	0.761	T	0.17776	-1.0358	10	0.24483	T	0.36	-14.316	8.7769	0.34767	0.8085:0.1915:0.0:0.0	.	9	Q8N9S9	SNX31_HUMAN	A	9	ENSP00000312368:V9A	ENSP00000312368:V9A	V	-	2	0	SNX31	101730893	0.985000	0.35326	1.000000	0.80357	0.984000	0.73092	2.194000	0.42668	0.554000	0.29061	0.379000	0.24179	GTG		0.692	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		G	101661717	A	G	101661717	3	3	5	1	0	0	0	0	1	0	0	0	14901	159	6	2	1352	2	SNX31	8	101661717	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	89617787	101661717	44702305	17	337											
PPRC1	23082	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	103899427	103899427	+	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	tagagactagttctgccttgCagctgcttatgcctacactg	8	13	9	11	0	1	1	0	0	1	1	1	2	1	1	2	0	6	4	2	0	4	6			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr10:103899427C>A	ENST00000278070.2	+	5	1201	c.1162C>A	c.(1162-1164)Cag>Aag	p.Q388K	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.Q388K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	388					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)		TTCTGCCTTGCAGCTGCTTAT	0.562																																						.											0													124	132	130					10																	103899427		2203	4300	6503	SO:0001583	missense	23082			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.1162C>A	10.37:g.103899427C>A	ENSP00000278070:p.Gln388Lys		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168029	0.21621	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.28666	1.6;1.6	5.93	4.01	0.46588	.	0.522486	0.19991	N	0.101562	T	0.16171	0.0389	N	0.17082	0.46	0.09310	N	0.999999	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.28618	-1.0038	10	0.09084	T	0.74	.	9.4455	0.38695	0.1607:0.5575:0.2817:0.0	.	388;268;388	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	K	388	ENSP00000278070:Q388K;ENSP00000399743:Q388K	ENSP00000278070:Q388K	Q	+	1	0	PPRC1	103889417	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	0.680000	0.25306	0.771000	0.33359	0.555000	0.69702	CAG		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103899427	C	A	103899427	3	1	5	1	0	0	0	0	1	0	0	0	12410	711	25	5	1180	5	PPRC1	10	103899427	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		103899427	31635320	18	338											
BTBD16	118663	ucsc.edu	37	chr10	124090744	124090744	+	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	tcttcccagagtcatggctcGaccaggttacagtcaaccat	10	10	8	13	1	3	1	2	0	1	1	5	2	4	1	3	2	2	2	3	2	2	2	rs201203665		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr10:124090744G>C	ENST00000260723.4	+	12	1308	c.1057G>C	c.(1057-1059)Gac>Cac	p.D353H	BTBD16_ENST00000368994.2_Missense_Mutation_p.D354H	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	353										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GTCATGGCTCGACCAGGTTAC	0.468																																						.											0													102	92	96					10																	124090744		2203	4300	6503	SO:0001583	missense	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1057G>C	10.37:g.124090744G>C	ENSP00000260723:p.Asp353His		A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438838	0.01098	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.16597	2.33;2.33	5.98	-11.7	0.00046	.	1.720820	0.02817	N	0.125135	T	0.05135	0.0137	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	0.19321	-1.0309	10	0.15066	T	0.55	-2.0894	10.4818	0.44698	0.5555:0.2319:0.2126:0.0	.	354;353	Q32M84-2;Q32M84	.;BTBDG_HUMAN	H	353;354	ENSP00000260723:D353H;ENSP00000357990:D354H	ENSP00000260723:D353H	D	+	1	0	BTBD16	124080734	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.195000	0.03043	-3.375000	0.00176	-2.827000	0.00107	GAC		0.468	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		C	124090744	G	C	124090744	3	2	5	1	0	0	0	0	1	0	0	0	1541	1058	37	5	1099	5	BTBD16	10	124090744	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	20191317	124090744	11444003	19	339											
MRPL49	740	broad.mit.edu;bcgsc.ca	37	chr11	64889873	64889873	+	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	gatggagaaccggtgtccagCggggctgcgggctacggctg	6	6	19	10	4	0	1	0	0	0	1	1	3	1	1	2	6	4	3	2	6	2	1			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr11:64889873C>T	ENST00000279242.2	+	1	74	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	FAU_ENST00000525297.1_5'Flank|MRPL49_ENST00000526171.1_Missense_Mutation_p.R19W|FAU_ENST00000529259.1_5'Flank|FAU_ENST00000529639.1_5'UTR|MRPL49_ENST00000534078.1_Missense_Mutation_p.R19W|FAU_ENST00000531743.1_5'Flank|FAU_ENST00000279259.3_5'Flank|MRPL49_ENST00000531705.1_Missense_Mutation_p.R19W|FAU_ENST00000527548.1_5'Flank|FAU_ENST00000434372.2_5'Flank|MRPL49_ENST00000524482.1_Intron	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	19					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						CGGTGTCCAGCGGGGCTGCGG	0.612																																						.											0													85	68	74					11																	64889873		2201	4297	6498	SO:0001583	missense	740				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608	ENST00000279242.2:c.55C>T	11.37:g.64889873C>T	ENSP00000279242:p.Arg19Trp		B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	CCDS8096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.263|7.263	0.605513|0.605513	0.14002|0.14002	.|.	.|.	ENSG00000149792|ENSG00000149792	ENST00000533943|ENST00000534078;ENST00000526171;ENST00000279242;ENST00000531705	.|T;T;T;T	.|0.55760	.|0.5;0.85;0.91;0.88	4.69|4.69	1.76|1.76	0.24704|0.24704	.|.	.|0.798202	.|0.11169	.|N	.|0.592275	T|T	0.35624|0.35624	0.0938|0.0938	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.23297|0.23297	-1.0192|-1.0192	5|10	.|0.44086	.|T	.|0.13	-6.5055|-6.5055	6.8572|6.8572	0.24048|0.24048	0.0:0.7067:0.0:0.2933|0.0:0.7067:0.0:0.2933	.|.	.|19	.|Q13405	.|RM49_HUMAN	V|W	16|19	.|ENSP00000434222:R19W;ENSP00000437177:R19W;ENSP00000279242:R19W;ENSP00000436740:R19W	.|ENSP00000279242:R19W	A|R	+|+	2|1	0|2	MRPL49|MRPL49	64646449|64646449	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.194000|0.194000	0.23727|0.23727	-0.182000|-0.182000	0.09726|0.09726	0.289000|0.289000	0.22422|0.22422	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.612	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		T	64889873	C	T	64889873	3	4	5	1	0	0	0	0	1	0	0	0	9813	759	27	1	57	1	MRPL49	11	64889873	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		64889873	70116643	20	340											
CACNA1C	775	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	2788865	2788865	+	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	gtcgcctccctcgccccgccGgctaccccagcacggtcagc	4	5	10	22	5	1	0	1	0	0	0	4	0	2	0	7	2	3	2	7	2	1	1			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:2788865G>A	ENST00000347598.4	+	44	5491	c.5491G>A	c.(5491-5493)Ggc>Agc	p.G1831S	CACNA1C_ENST00000399638.1_Missense_Mutation_p.G1811S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G1824S|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G1808S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G1791S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G1800S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G1802S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G1802S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G1783S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G1803S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G1789S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G1802S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G1791S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1831					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)	TCGCCCCGCCGGCTACCCCAG	0.677																																						.											0													41	49	46					12																	2788865		2054	4198	6252	SO:0001583	missense	775			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.5491G>A	12.37:g.2788865G>A	ENSP00000266376:p.Gly1831Ser		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	5.139	0.211285	0.09757	.	.	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	0.95949	-3.8;-3.79;-3.79;-3.8;-3.79;-3.81;-3.7;-3.75;-3.79;-3.73;-3.72;-3.79;-3.85;-3.72;-3.63;-3.85;-3.8;-3.79;-3.78;-3.73;-3.78;-3.86	5.06	3.19	0.36642	.	2.241760	0.01598	N	0.021892	D	0.92051	0.7481	L	0.41573	1.285	0.26335	N	0.977457	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.50710	0.003;0.938;0.0;0.004;0.005;0.004;0.003;0.008;0.001;0.003;0.004;0.0;0.003;0.012;0.001;0.003;0.003;0.001;0.004;0.003;0.001;0.004;0.004;0.0;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43225	0.002;0.412;0.001;0.003;0.01;0.005;0.002;0.01;0.001;0.002;0.006;0.001;0.003;0.01;0.001;0.004;0.003;0.005;0.006;0.004;0.001;0.007;0.007;0.001;0.002	T	0.82649	-0.0353	10	0.15952	T	0.53	.	3.0471	0.06157	0.1067:0.3219:0.4061:0.1652	.	474;1824;1780;1831;1783;1802;1783;1800;1811;1783;1803;1783;1743;1831;1783;1783;1783;1791;1789;1791;1772;1802;1802;1783;1783	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1808;1783;1783;1811;1783;1802;1802;1791;1783;1831;1803;1783;1824;1800;1783;1789;1802;1783;1783;1783;1783;1791;1613	ENSP00000336982:G1808S;ENSP00000382563:G1783S;ENSP00000382552:G1783S;ENSP00000382547:G1811S;ENSP00000382506:G1783S;ENSP00000382530:G1802S;ENSP00000382546:G1802S;ENSP00000382500:G1791S;ENSP00000382549:G1783S;ENSP00000266376:G1831S;ENSP00000382515:G1803S;ENSP00000382510:G1783S;ENSP00000341092:G1824S;ENSP00000382537:G1800S;ENSP00000329877:G1783S;ENSP00000382557:G1789S;ENSP00000385724:G1802S;ENSP00000382512:G1783S;ENSP00000382542:G1783S;ENSP00000382526:G1783S;ENSP00000385896:G1783S;ENSP00000382504:G1791S	ENSP00000323129:G1613S	G	+	1	0	CACNA1C	2659126	0.981000	0.34729	0.048000	0.18961	0.022000	0.10575	2.143000	0.42187	0.506000	0.28125	0.305000	0.20034	GGC		0.677	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2788865	G	A	2788865	3	1	5	1	0	0	0	0	1	0	0	0	2540	1116	39	1	5896	1	CACNA1C	12	2788865	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		2788865	131063030	21	341											
GRIN2B	2904	broad.mit.edu;bcgsc.ca	37	chr12	13906390	13906390	+	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	aattccatctctcactctggCggggaggccatagtcccatt	8	11	9	13	1	3	0	1	0	2	0	6	1	5	1	3	4	0	0	3	4	2	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:13906390C>T	ENST00000609686.1	-	3	1080	c.871G>A	c.(871-873)Gcc>Acc	p.A291T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	291					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)	CTCACTCTGGCGGGGAGGCCA	0.537																																						.											0													98	87	91					12																	13906390		2203	4300	6503	SO:0001583	missense	2904				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.871G>A	12.37:g.13906390C>T	ENSP00000477455:p.Ala291Thr		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974696	0.53720	.	.	ENSG00000150086	ENST00000279593	T	0.04970	3.52	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	L	0.39245	1.2	0.80722	D	1	P	0.35050	0.482	B	0.24701	0.055	T	0.31998	-0.9923	10	0.34782	T	0.22	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	291	Q13224	NMDE2_HUMAN	T	291	ENSP00000279593:A291T	ENSP00000279593:A291T	A	-	1	0	GRIN2B	13797657	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.627000	0.61276	2.775000	0.95449	0.655000	0.94253	GCC		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13906390	C	T	13906390	3	4	5	1	0	0	0	0	1	0	0	0	6780	768	27	1	3627	1	GRIN2B	12	13906390	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	11117525	13906390	119945505	22	342											
CSAD	51380	ucsc.edu	37	chr12	53565216	53565216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagcatacatgttggagAtggagccacctgtcacaggg	11	9	12	9	0	1	1	1	0	0	1	1	3	1	2	2	3	4	2	2	3	2	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:53565216A>G	ENST00000444623.1	-	8	728	c.461T>C	c.(460-462)aTc>aCc	p.I154T	CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000453446.2_Missense_Mutation_p.I154T|CSAD_ENST00000267085.4_Missense_Mutation_p.I181T|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	154					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CATGTTGGAGATGGAGCCACC	0.597																																					Ovarian(109;252 1546 16882 28524 44645)	.											0													45	43	44					12																	53565216		2203	4300	6503	SO:0001583	missense	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.461T>C	12.37:g.53565216A>G	ENSP00000415485:p.Ile154Thr		A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108478	0.77096	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442;ENST00000437073	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.260572	0.43260	D	0.000582	T	0.39989	0.1099	L	0.28740	0.885	0.80722	D	1	B;B	0.27971	0.163;0.196	B;B	0.39771	0.309;0.296	T	0.27773	-1.0064	10	0.33141	T	0.24	-19.1094	14.6573	0.68844	1.0:0.0:0.0:0.0	.	181;154	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	T	243;181;154;154;154;48;154	ENSP00000267085:I181T;ENSP00000415485:I154T;ENSP00000410648:I154T;ENSP00000415314:I154T	ENSP00000267085:I181T	I	-	2	0	CSAD	51851483	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.657000	0.67996	2.166000	0.68216	0.533000	0.62120	ATC		0.597	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		G	53565216	A	G	53565216	3	3	5	1	0	0	0	0	1	0	0	0	3925	333	12	4	1060	4	CSAD	12	53565216	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	39658826	53565216	80286679	23	343											
SMARCC2	6601	broad.mit.edu	37	chr12	56578007	56578007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacatgggaggcattgtTcttatcctcagtgactgttc	9	13	9	10	0	2	1	1	1	1	0	4	2	3	2	1	2	1	3	1	2	2	4			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:56578007T>C	ENST00000267064.4	-	6	600	c.514A>G	c.(514-516)Aac>Gac	p.N172D	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.N172D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N172D|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000394023.3_Missense_Mutation_p.N172D	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	172					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAGGCATTGTTCTTATCCTCA	0.493																																						.											0													115	92	100					12																	56578007		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.514A>G	12.37:g.56578007T>C	ENSP00000267064:p.Asn172Asp		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324727	0.41197	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.38	4.24	0.50183	BRCT (1);	0.717108	0.14170	N	0.336810	T	0.25494	0.0620	N	0.02011	-0.69	0.22066	N	0.999386	B;B;B;B;B	0.18310	0.016;0.027;0.016;0.016;0.027	B;B;B;B;B	0.17098	0.007;0.017;0.007;0.007;0.017	T	0.17623	-1.0363	10	0.21014	T	0.42	-3.7705	10.4059	0.44256	0.0:0.0781:0.0:0.9219	.	61;172;177;172;172	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	172	ENSP00000377591:N172D;ENSP00000449396:N172D;ENSP00000302919:N172D;ENSP00000267064:N172D	ENSP00000267064:N172D	N	-	1	0	SMARCC2	54864274	0.111000	0.22076	0.997000	0.53966	0.994000	0.84299	0.392000	0.20801	1.002000	0.39104	0.459000	0.35465	AAC		0.493	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			C	56578007	T	C	56578007	3	2	5	1	0	0	0	0	1	0	0	0	14776	1783	62	4	3319	4	SMARCC2	12	56578007	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	3012791	56578007	77273888	24	344											
NOC4L	79050	ucsc.edu	37	chr12	132632437	132632437	+	Missense_Mutation	SNP	T	T	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	ctccgcaggtgccccccgccTtttggaacaatgccttcacg	6	9	9	17	3	1	0	1	0	0	0	2	1	2	1	6	2	3	1	6	2	2	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr12:132632437T>C	ENST00000330579.1	+	6	657	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	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)	206					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)		GCCCCCCGCCTTTTGGAACAA	0.682																																						.											0													27	30	29					12																	132632437		2188	4296	6484	SO:0001583	missense	79050				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.616T>C	12.37:g.132632437T>C	ENSP00000328854:p.Phe206Leu		Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.500413	0.26861	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.63580	-0.05;1.51	5.1	3.9	0.45041	Armadillo-like helical (1);	0.170682	0.51477	N	0.000091	T	0.42787	0.1218	L	0.33485	1.01	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22626	-1.0211	10	0.05721	T	0.95	-28.2025	7.9495	0.30006	0.0:0.0957:0.0:0.9043	.	206	Q9BVI4	NOC4L_HUMAN	L	206;173	ENSP00000328854:F206L;ENSP00000438255:F173L	ENSP00000328854:F206L	F	+	1	0	NOC4L	131198390	0.988000	0.35896	0.481000	0.27354	0.018000	0.09664	2.192000	0.42649	0.731000	0.32448	0.496000	0.49642	TTT		0.682	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		C	132632437	T	C	132632437	3	2	5	1	0	0	0	0	1	0	0	0	10515	1609	56	2	638	2	NOC4L	12	132632437	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	76054430	132632437	1219458	25	345											
SLC25A29	123096	ucsc.edu;mdanderson.org	37	chr14	100758955	100758955	+	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	tgacgtaccgcccgccaacaGcagcttgggcaccagcaggc	9	4	12	16	3	0	1	0	1	0	0	0	1	0	1	4	2	5	5	4	2	2	2			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr14:100758955G>A	ENST00000359232.3	-	4	877	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	SLC25A29_ENST00000554912.1_Silent_p.L127L|SLC25A29_ENST00000556505.1_Silent_p.L127L|SLC25A29_ENST00000539621.1_Silent_p.L127L|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000555927.1_Silent_p.L127L|RP11-638I2.6_ENST00000556458.1_lincRNA|AL157871.2_ENST00000553954.1_RNA	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	193						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)	CCCGCCAACAGCAGCTTGGGC	0.692																																						.											0													26	18	21					14																	100758955		2186	4284	6470	SO:0001819	synonymous_variant	123096			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.577C>T	14.37:g.100758955G>A			A3KMR5|Q541V0	Silent	SNP	ENST00000359232.3	37	CCDS32156.1																																																																																				0.692	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3			A	100758955	G	A	100758955	2	1	5	1	0	0	0	0	0	0	0	1	14492	962	34	4		4	SLC25A29	14	100758955	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		100758955	6590585	26	346											
CSPG4	1464	mdanderson.org	37	chr15	75981944	75981944	+	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	gaacatttttcgtgcctgggCtcccgggatgtccagctcga	6	11	12	12	3	0	0	0	0	0	0	4	3	2	1	3	2	3	2	3	2	1	2	rs72732868	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr15:75981944C>T	ENST00000308508.5	-	3	1554	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	488	Globular or compact configuration stabilized by disulfide bonds.|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						CGTGCCTGGGCTCCCGGGATG	0.637													C|||	30	0.00599042	0.0023	0.0043	5008	,	,		21686	0.0119		0.004	False		,,,				2504	0.0082					.											0													59	55	57					15																	75981944		2197	4292	6489	SO:0001583	missense	1464			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.1462G>A	15.37:g.75981944C>T	ENSP00000312506:p.Ala488Thr		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	7.683	0.689502	0.14973	.	.	ENSG00000173546	ENST00000308508	T	0.19669	2.13	5.12	5.12	0.69794	.	0.093684	0.44902	D	0.000419	T	0.17323	0.0416	L	0.49350	1.555	0.40778	D	0.983141	P	0.38020	0.615	B	0.33196	0.159	T	0.04961	-1.0915	10	0.11794	T	0.64	.	13.061	0.59008	0.1615:0.8385:0.0:0.0	.	488	Q6UVK1	CSPG4_HUMAN	T	488	ENSP00000312506:A488T	ENSP00000312506:A488T	A	-	1	0	CSPG4	73768999	0.998000	0.40836	0.608000	0.28969	0.011000	0.07611	3.620000	0.54203	2.375000	0.81037	0.555000	0.69702	GCC		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75981944	C	T	75981944	3	4	5	1	0	0	0	0	1	0	0	0	3960	797	28	4	5538	4	CSPG4	15	75981944	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		75981944	26549448	27	347											
HYDIN	54768	broad.mit.edu	37	chr16	70884529	70884529	+	Missense_Mutation	SNP	T	T	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	agttcacatctccttcctgcTttggtgtgaagaaaatatca	11	14	7	9	0	3	2	2	1	1	1	5	2	4	2	2	1	1	2	2	1	4	4			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr16:70884529T>C	ENST00000393567.2	-	74	12623	c.12473A>G	c.(12472-12474)aAg>aGg	p.K4158R	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4158					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)				TCCTTCCTGCTTTGGTGTGAA	0.408																																						.											0													75	64	67					16																	70884529		1855	4105	5960	SO:0001583	missense	54768			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.12473A>G	16.37:g.70884529T>C	ENSP00000377197:p.Lys4158Arg		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592091	0.66219	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01051	5.4	5.56	5.56	0.83823	.	0.515744	0.14146	U	0.338329	T	0.02267	0.0070	L	0.52126	1.63	0.80722	D	1	B	0.30193	0.272	B	0.40199	0.322	T	0.62210	-0.6902	10	0.20519	T	0.43	.	11.053	0.47901	0.0:0.0:0.2775:0.7225	.	4157	F8WD23	.	R	4158;4157	ENSP00000377197:K4158R	ENSP00000313052:K4157R	K	-	2	0	HYDIN	69442030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.665000	0.46791	2.113000	0.64589	0.418000	0.28097	AAG		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	70884529	T	C	70884529	3	2	5	1	0	0	0	0	1	0	0	0	7467	1609	56	2	2944	2	HYDIN	16	70884529	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10		70884529	19470224	28	348											
COX4NB	10328	broad.mit.edu	37	chr16	85822626	85822626	+	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	ttgataataaccagcaatcaCgtagctatgatctttgcacc	13	12	6	10	1	2	2	1	2	1	0	2	2	2	2	2	0	4	4	2	0	5	6			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr16:85822626C>T	ENST00000253457.3	-	2	506	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	RP11-568J23.5_ENST00000602706.1_RNA|EMC8_ENST00000435200.2_Missense_Mutation_p.V88M	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	88						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CCAGCAATCACGTAGCTATGA	0.438																																						.											0													192	151	165					16																	85822626		2198	4300	6498	SO:0001583	missense	10328			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.262G>A	16.37:g.85822626C>T	ENSP00000253457:p.Val88Met		C9JB21	Missense_Mutation	SNP	ENST00000253457.3	37	CCDS10954.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169822	0.78452	.	.	ENSG00000131148	ENST00000253457;ENST00000435200	T;T	0.46063	0.88;0.88	5.62	5.62	0.85841	.	0.114900	0.64402	D	0.000017	T	0.62036	0.2395	M	0.64567	1.98	0.58432	D	0.999997	D	0.76494	0.999	D	0.64237	0.923	T	0.59915	-0.7364	10	0.46703	T	0.11	-25.8182	19.6758	0.95932	0.0:1.0:0.0:0.0	.	88	O43402	CX4NB_HUMAN	M	88	ENSP00000253457:V88M;ENSP00000391730:V88M	ENSP00000253457:V88M	V	-	1	0	COX4NB	84380127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.394000	0.52551	2.644000	0.89710	0.561000	0.74099	GTG		0.438	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	NM_006067		T	85822626	C	T	85822626	3	4	5	1	0	0	0	0	1	0	0	0	3771	536	19	1	386	1	COX4NB	16	85822626	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	14938097	85822626	4532127	29	349											
RCVRN	5957	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr17	9808240	9808240	+	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	gtcatgtgcagggcgatgacGtactccttgaagtccagggt	8	10	14	9	2	1	2	1	2	0	0	3	3	3	2	2	2	2	2	2	2	2	2			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:9808240G>A	ENST00000226193.5	-	1	698	c.258C>T	c.(256-258)taC>taT	p.Y86Y		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	86	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGGCGATGACGTACTCCTTGA	0.607																																						.											0													191	140	158					17																	9808240		2203	4300	6503	SO:0001819	synonymous_variant	5957			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.258C>T	17.37:g.9808240G>A			Q53XL0	Silent	SNP	ENST00000226193.5	37	CCDS11151.1																																																																																				0.607	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		A	9808240	G	A	9808240	2	1	5	1	0	0	0	0	0	0	0	1	13186	1140	40	1		1	RCVRN	17	9808240	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		9808240	71386970	30	350											
ELAC2	60528	bcgsc.ca	37	chr17	12908367	12908367	+	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	ttcatctggacattctaccaCcacaaaagcagcaccaggat	14	8	6	13	0	3	0	1	0	2	0	3	2	3	2	3	2	3	2	3	2	3	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:12908367C>T	ENST00000338034.4	-	11	1161	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000395962.2_Missense_Mutation_p.V289M|ELAC2_ENST00000426905.3_Missense_Mutation_p.V268M	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	308					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						CATTCTACCACCACAAAAGCA	0.512																																						.											0													201	193	196					17																	12908367		2203	4300	6503	SO:0001583	missense	60528			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.922G>A	17.37:g.12908367C>T	ENSP00000337445:p.Val308Met		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	CCDS11164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.282467|2.282467	0.40394|0.40394	.|.	.|.	ENSG00000006744|ENSG00000006744	ENST00000446899|ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	.|T;T;T	.|0.55930	.|0.49;0.49;0.49	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.202456	.|0.40818	.|N	.|0.001001	T|T	0.71904|0.71904	0.3395|0.3395	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D;D;D;D	.|0.76494	.|0.996;0.999;0.997;0.999;0.998;0.996	.|P;D;D;D;D;D	.|0.71870	.|0.859;0.957;0.975;0.957;0.925;0.925	T|T	0.75825|0.75825	-0.3181|-0.3181	5|10	.|0.87932	.|D	.|0	-29.6091|-29.6091	13.501|13.501	0.61454|0.61454	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|268;291;289;131;308;68	.|B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.|.;.;.;.;RNZ2_HUMAN;.	D|M	87|268;308;289;18	.|ENSP00000405223:V268M;ENSP00000337445:V308M;ENSP00000379291:V289M	.|ENSP00000337445:V308M	G|V	-|-	2|1	0|0	ELAC2|ELAC2	12849092|12849092	0.996000|0.996000	0.38824|0.38824	0.952000|0.952000	0.39060|0.39060	0.947000|0.947000	0.59692|0.59692	3.430000|3.430000	0.52807|0.52807	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.512	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			T	12908367	C	T	12908367	3	4	5	1	0	0	0	0	1	0	0	0	5047	507	18	3	1614	3	ELAC2	17	12908367	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	3100127	12908367	68286843	31	351											
SLC5A10	125206	hgsc.bcm.edu	37	chr17	18923480	18923480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttacagattgagaaccttAcctggtggaccctggctcag	9	11	10	11	0	2	2	1	1	1	2	2	4	2	3	3	3	3	1	3	3	3	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:18923480A>G	ENST00000395645.3	+	14	1657	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	SLC5A10_ENST00000317977.6_Missense_Mutation_p.T517A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.T563A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.T520A|SLC5A10_ENST00000417251.2_Missense_Mutation_p.T511A|SLC5A10_ENST00000395642.1_Missense_Mutation_p.T517A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	547					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						TGAGAACCTTACCTGGTGGAC	0.577																																						.											0													112	106	108					17																	18923480		2203	4300	6503	SO:0001583	missense	125206				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.1639A>G	17.37:g.18923480A>G	ENSP00000379007:p.Thr547Ala		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398343	0.62177	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.92048	-2.96;-2.43;-2.96;-2.45;-2.36;-2.47	5.43	5.43	0.79202	.	0.138064	0.64402	D	0.000003	D	0.94172	0.8130	M	0.87682	2.9	0.58432	D	0.999995	P;P;P;P;P	0.48911	0.773;0.917;0.864;0.917;0.859	B;P;B;P;P	0.47786	0.354;0.557;0.265;0.557;0.511	D	0.94730	0.7909	10	0.59425	D	0.04	.	14.6029	0.68453	1.0:0.0:0.0:0.0	.	511;520;547;563;517	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	A	517;563;517;511;547;520	ENSP00000324346:T517A;ENSP00000379008:T563A;ENSP00000379004:T517A;ENSP00000401875:T511A;ENSP00000379007:T547A;ENSP00000379005:T520A	ENSP00000324346:T517A	T	+	1	0	SLC5A10	18864205	0.937000	0.31787	0.954000	0.39281	0.964000	0.63967	6.425000	0.73370	2.191000	0.70037	0.529000	0.55759	ACC		0.577	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		G	18923480	A	G	18923480	3	3	5	1	0	0	0	0	1	0	0	0	14662	391	14	2	1741	2	SLC5A10	17	18923480	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	6015113	18923480	62271730	32	352											
CDK12	51755	broad.mit.edu	37	chr17	37657501	37657501	+	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	attttttttcgtctttatgtAggtgccttttaccttgtatt	5	24	6	6	1	1	0	0	0	1	0	2	0	1	0	2	1	2	2	2	1	4	12			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr17:37657501A>G	ENST00000447079.4	+	6	2452		c.e6-1		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						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						GTCTTTATGTAGGTGCCTTTT	0.353			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												.		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													97	96	96					17																	37657501		2203	4300	6503	SO:0001630	splice_region_variant	51755			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.2420-1A>G	17.37:g.37657501A>G			A7E2B2|B4DYX4|B9EIQ6|O94978	Splice_Site	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	a	24.9	4.581417	0.86748	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2004	0.82067	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK12	34911027	1.000000	0.71417	0.966000	0.40874	0.957000	0.61999	9.206000	0.95056	2.233000	0.73108	0.529000	0.55759	.		0.353	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	Intron	G	37657501	A	G	37657501	5	3	5	1	0	0	0	0	0	0	1	0	3128	434	15	2	2440	2	CDK12	17	37657501	Splice_Site	SNP	A	TCGA-KL-8327-01A-11D-2310-10	18734021	37657501	43537709	33	353											
CDH2	1000	broad.mit.edu;mdanderson.org	37	chr18	25543442	25543442	+	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	ccacaggcttgatggcatcaGgctccacagtgtcaggctgc	8	8	12	13	0	2	1	2	1	0	0	3	1	3	1	2	4	1	4	2	4	0	1			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:25543442G>A	ENST00000269141.3	-	15	2816	c.2393C>T	c.(2392-2394)cCt>cTt	p.P798L	CDH2_ENST00000399380.3_Missense_Mutation_p.P767L|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	798					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGGCATCAGGCTCCACAGT	0.532																																						.											0													84	68	73					18																	25543442		2203	4300	6503	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2393C>T	18.37:g.25543442G>A	ENSP00000269141:p.Pro798Leu		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283649	0.95489	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61158	0.17;0.13	6.16	6.16	0.99307	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	L	0.28694	0.88	0.80722	D	1	P;D	0.71674	0.866;0.998	P;D	0.69142	0.735;0.962	T	0.65631	-0.6121	10	0.48119	T	0.1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	767;798	A8MWK3;P19022	.;CADH2_HUMAN	L	798;767	ENSP00000269141:P798L;ENSP00000382312:P767L	ENSP00000269141:P798L	P	-	2	0	CDH2	23797440	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.163000	0.71880	2.937000	0.99478	0.650000	0.86243	CCT		0.532	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		A	25543442	G	A	25543442	3	1	5	1	0	0	0	0	1	0	0	0	3105	1000	35	4	335	4	CDH2	18	25543442	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		25543442	52533806	34	354											
TCF4	6925	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	52937134	52937134	+	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	atggtttgtaccactacgatGgaaagtggacatcggaggaa	13	9	13	6	2	0	0	0	0	0	0	1	5	0	4	1	5	2	2	1	5	4	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:52937134G>A	ENST00000356073.4	-	11	1461	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	TCF4_ENST00000568740.1_Missense_Mutation_p.H259Y|TCF4_ENST00000540999.1_Missense_Mutation_p.H260Y|TCF4_ENST00000567880.1_Missense_Mutation_p.H224Y|TCF4_ENST00000354452.3_Missense_Mutation_p.H284Y|TCF4_ENST00000537578.1_Missense_Mutation_p.H260Y|TCF4_ENST00000564999.1_Missense_Mutation_p.H284Y|TCF4_ENST00000561831.3_Missense_Mutation_p.H124Y|TCF4_ENST00000537856.3_Missense_Mutation_p.H154Y|TCF4_ENST00000570287.2_Missense_Mutation_p.H124Y|TCF4_ENST00000398339.1_Missense_Mutation_p.H386Y|TCF4_ENST00000568673.1_Missense_Mutation_p.H260Y|TCF4_ENST00000566279.1_Missense_Mutation_p.H224Y|TCF4_ENST00000570177.2_Missense_Mutation_p.H154Y|TCF4_ENST00000544241.2_Missense_Mutation_p.H213Y|TCF4_ENST00000543082.1_Missense_Mutation_p.H242Y|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564403.2_Missense_Mutation_p.H290Y|TCF4_ENST00000565018.2_Missense_Mutation_p.H284Y|TCF4_ENST00000457482.3_Missense_Mutation_p.H124Y|TCF4_ENST00000564228.1_Missense_Mutation_p.H213Y|TCF4_ENST00000561992.1_Missense_Mutation_p.H154Y|TCF4_ENST00000566286.1_Missense_Mutation_p.H282Y	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	284					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|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)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCACTACGATGGAAAGTGGAC	0.453																																						.											0													185	155	165					18																	52937134		2203	4300	6503	SO:0001583	missense	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.850C>T	18.37:g.52937134G>A	ENSP00000348374:p.His284Tyr		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011236	0.75046	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.8	5.8	0.92144	.	0.146061	0.64402	D	0.000009	T	0.47040	0.1424	L	0.55481	1.735	0.80722	D	1	B;P;B;B;B;B;B;B;B;B	0.42375	0.052;0.778;0.188;0.007;0.209;0.344;0.112;0.052;0.007;0.2	B;B;B;B;B;B;B;B;B;B	0.42827	0.056;0.399;0.1;0.017;0.084;0.053;0.038;0.038;0.009;0.069	T	0.47018	-0.9149	10	0.62326	D	0.03	-7.2002	18.8159	0.92076	0.0:0.0:1.0:0.0	.	260;284;260;124;386;284;242;213;124;282	B7Z5M6;G0LNT9;B7Z6Y1;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;.;ITF2_HUMAN;.;.;.;.	Y	284;124;284;242;260;260;213;154;386	ENSP00000346440:H284Y;ENSP00000409447:H124Y;ENSP00000348374:H284Y;ENSP00000439656:H242Y;ENSP00000445202:H260Y;ENSP00000440731:H260Y;ENSP00000441562:H213Y;ENSP00000439827:H154Y;ENSP00000381382:H386Y	ENSP00000346440:H284Y	H	-	1	0	TCF4	51088132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.998000	0.93550	2.734000	0.93682	0.460000	0.39030	CAT		0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		A	52937134	G	A	52937134	3	1	5	1	0	0	0	0	1	0	0	0	15692	1348	47	4	1201	4	TCF4	18	52937134	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	27393692	52937134	25140114	35	355											
ALPK2	115701	hgsc.bcm.edu	37	chr18	56202992	56202992	+	Missense_Mutation	SNP	T	T	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	gaatttgttcagcctcctgcTtcatactgccttcttggctt	5	17	7	12	0	3	0	2	0	1	0	4	1	4	0	3	1	4	3	3	1	2	7			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr18:56202992T>C	ENST00000361673.3	-	5	4640	c.4427A>G	c.(4426-4428)aAg>aGg	p.K1476R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1476			K -> T (in a melanoma metastatic sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K837T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCCTCCTGCTTCATACTGCC	0.493																																						.											1	Substitution - Missense(1)	ovary(1)											57	59	58					18																	56202992		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4427A>G	18.37:g.56202992T>C	ENSP00000354991:p.Lys1476Arg		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.456971	0.01071	.	.	ENSG00000198796	ENST00000361673	T	0.37411	1.2	3.9	2.0	0.26442	.	156.464000	0.00166	N	0.000000	T	0.19685	0.0473	N	0.13098	0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24225	-1.0166	10	0.02654	T	1	-0.5955	4.7766	0.13182	0.0:0.6527:0.222:0.1254	.	1471;1476	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	1476	ENSP00000354991:K1476R	ENSP00000354991:K1476R	K	-	2	0	ALPK2	54353972	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.134000	0.10436	0.534000	0.28695	-0.456000	0.05471	AAG		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56202992	T	C	56202992	3	2	5	1	0	0	0	0	1	0	0	0	545	1609	56	2	2121	2	ALPK2	18	56202992	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	3265858	56202992	21874256	36	356											
ZNF439	90594	hgsc.bcm.edu	37	chr19	11979212	11979212	+	Missense_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	accgtatcaatgtaaggaatGtgggaaagctttcagatctg	13	11	11	6	1	3	1	2	0	1	1	3	3	3	3	1	2	1	3	1	2	5	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:11979212G>A	ENST00000304030.2	+	3	1528	c.1328G>A	c.(1327-1329)tGt>tAt	p.C443Y	ZNF439_ENST00000455282.1_Missense_Mutation_p.C307Y|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	443					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						TGTAAGGAATGTGGGAAAGCT	0.438																																						.											0													69	64	66					19																	11979212		2203	4300	6503	SO:0001583	missense	90594			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.1328G>A	19.37:g.11979212G>A	ENSP00000305077:p.Cys443Tyr		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	14.21	2.468878	0.43839	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	D;D	0.85861	-2.04;-2.04	0.749	0.749	0.18381	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93245	0.7848	H	0.95294	3.65	0.40313	D	0.978732	D	0.89917	1.0	D	0.97110	1.0	D	0.92639	0.6123	9	0.87932	D	0	.	9.0493	0.36367	0.0:0.0:1.0:0.0	.	443	Q8NDP4	ZN439_HUMAN	Y	307;443	ENSP00000395632:C307Y;ENSP00000305077:C443Y	ENSP00000305077:C443Y	C	+	2	0	ZNF439	11840212	1.000000	0.71417	0.008000	0.14137	0.080000	0.17528	7.315000	0.78998	0.716000	0.32124	0.194000	0.17425	TGT		0.438	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			A	11979212	G	A	11979212	3	1	5	1	0	0	0	0	1	0	0	0	17908	1377	48	4	1338	4	ZNF439	19	11979212	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10		11979212	47149771	37	357											
CACNA1A	773	bcgsc.ca	37	chr19	13366015	13366015	+	Missense_Mutation	SNP	T	T	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	ggtactggaagctctgcttgTtctgcggcatgtgtcgggtc	4	13	15	9	2	2	0	0	0	2	0	4	1	2	1	0	4	4	5	0	4	2	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:13366015T>C	ENST00000360228.5	-	29	4648	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Missense_Mutation_p.N1551S	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	1551					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)	GCTCTGCTTGTTCTGCGGCAT	0.597																																						.											0													70	78	75					19																	13366015		2151	4247	6398	SO:0001583	missense	773			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.4649A>G	19.37:g.13366015T>C	ENSP00000353362:p.Asn1550Ser		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071462	0.55646	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96011	-3.88	4.79	4.79	0.61399	.	0.187057	0.43747	D	0.000533	D	0.96549	0.8874	M	0.93594	3.435	0.54753	D	0.999987	P;P;D;P	0.58268	0.745;0.835;0.982;0.745	B;P;P;B	0.45195	0.275;0.465;0.473;0.275	D	0.97011	0.9736	10	0.87932	D	0	.	13.388	0.60807	0.0:0.0:0.0:1.0	.	1551;1554;1550;1551	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	S	1550;1554;1551;1551;167	ENSP00000353362:N1550S	ENSP00000317661:N1551S	N	-	2	0	CACNA1A	13227015	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.206000	0.72154	1.805000	0.52779	0.524000	0.50904	AAC		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		C	13366015	T	C	13366015	3	2	5	1	0	0	0	0	1	0	0	0	2538	1725	60	2	3049	2	CACNA1A	19	13366015	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	1386803	13366015	45762968	38	358											
ZNF14	7561	bcgsc.ca	37	chr19	19822268	19822268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttctctccagtgtgagAcctttcatgaattcgaacag	10	13	9	9	1	2	2	1	2	1	1	5	4	3	2	2	1	1	1	2	1	2	3			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:19822268A>G	ENST00000344099.3	-	4	1960	c.1822T>C	c.(1822-1824)Tct>Cct	p.S608P		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)				CCAGTGTGAGACCTTTCATGA	0.418																																						.											0													80	78	79					19																	19822268		2203	4300	6503	SO:0001583	missense	7561			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.1822T>C	19.37:g.19822268A>G	ENSP00000340514:p.Ser608Pro		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926842	0.52759	.	.	ENSG00000105708	ENST00000344099	T	0.08193	3.12	1.8	0.667	0.17907	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	L	0.37800	1.135	0.21064	N	0.999794	P	0.48407	0.91	P	0.44772	0.46	T	0.28235	-1.0050	9	0.72032	D	0.01	.	2.241	0.04020	0.3263:0.0:0.2447:0.4291	.	608	P17017	ZNF14_HUMAN	P	608	ENSP00000340514:S608P	ENSP00000340514:S608P	S	-	1	0	ZNF14	19683268	0.007000	0.16637	0.089000	0.20774	0.983000	0.72400	1.471000	0.35365	-0.048000	0.13401	0.383000	0.25322	TCT		0.418	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		G	19822268	A	G	19822268	3	3	5	1	0	0	0	0	1	0	0	0	17725	275	10	2	110	2	ZNF14	19	19822268	Missense_Mutation	SNP	A	TCGA-KL-8327-01A-11D-2310-10	6456253	19822268	39306715	39	359											
LSM14A	26065	broad.mit.edu	37	chr19	34710315	34710315	+	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	gctccaggtgctccttcagcTccaaggagagggcgtggggg	6	7	17	11	1	1	1	1	0	0	1	4	2	4	1	3	5	2	3	3	5	1	1	rs201741862		TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:34710315T>G	ENST00000433627.5	+	7	876	c.801T>G	c.(799-801)gcT>gcG	p.A267A	LSM14A_ENST00000540746.2_Silent_p.A226A|LSM14A_ENST00000544216.3_Silent_p.A267A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	267					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A267A(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTCCTTCAGCTCCAAGGAGAG	0.438																																						.											2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											64	74	71					19																	34710315		2203	4300	6503	SO:0001819	synonymous_variant	26065			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.801T>G	19.37:g.34710315T>G			B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	CCDS46040.1																																																																																				0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		G	34710315	T	G	34710315	2	3	5	1	0	0	0	0	0	0	0	1	9054	1538	54	5		5	LSM14A	19	34710315	Silent	SNP	T	TCGA-KL-8327-01A-11D-2310-10	14888047	34710315	24418668	40	360											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655328	38655329	+	Frame_Shift_Ins	INS	-	-	C																															ccctggccaaggctccacggINScccgccaagccacacaagcc																										TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:38655328_38655329insC	ENST00000222345.6	+	15	4499_4500	c.3990_3991insC	c.(3991-3993)cccfs	p.P1331fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1331					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.P1331S(1)		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)			AGGCTCCACGGCCCGCCAAGCC	0.673																																						.											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	23094			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.3993dupC	19.37:g.38655331_38655331dupC	ENSP00000222345:p.Pro1331fs		Q2TV87	Frame_Shift_Ins	INS	ENST00000222345.6	37	CCDS33007.1																																																																																				0.673	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		C	38655329	-	C	38655328	7	5	5	1	0	1	1	0	0	0	0	0	14331	1190	42	0	4040	0	SIPA1L3	19	38655328	Frame_Shift_Ins	INS	-	TCGA-KL-8327-01A-11D-2310-10	3945013	38655328	20473655	41	361											
DBP	1628	hgsc.bcm.edu	37	chr19	49134133	49134155	+	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	-																															gcctggtatcgggacagcacGgcgcggtagtgggacagctc																										TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:49134133_49134155delGGCGCGGTAGTGGGACAGCTCCT	ENST00000222122.5	-	4	1360_1382	c.917_939delAGGAGCTGTCCCACTACCGCGCC	c.(916-939)caggagctgtcccactaccgcgccfs	p.QELSHYRA306fs	DBP_ENST00000599385.1_Frame_Shift_Del_p.QELSHYRA104fs|DBP_ENST00000593500.1_Frame_Shift_Del_p.QELSHYRA104fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	306	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)		GGGACAGCACGGCGCGGTAGTGGGACAGCTCCTGGCGCACGGC	0.682																																						.											0																																										SO:0001589	frameshift_variant	1628			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.917_939delAGGAGCTGTCCCACTACCGCGCC	19.37:g.49134133_49134155delGGCGCGGTAGTGGGACAGCTCCT	ENSP00000222122:p.Gln306fs		A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	CCDS12728.1																																																																																				0.682	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		-	49134155	GGCGCGGTAGTGGGACAGCTCCT	-	49134133	7	5	5	1	0	1	0	1	0	0	0	0	4256	1103	39	0	42	0	DBP	19	49134133	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	TCGA-KL-8327-01A-11D-2310-10	10478805	49134133	9994850	42	362	7	2									
DBP	1628	bcgsc.ca	37	chr19	49134134	49134156	+	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	-																															cctggtatcgggacagcacgGcgcggtagtgggacagctcc																										TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	GGCGCGGTAGTGGGACAGCTCCT	GGCGCGGTAGTGGGACAGCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:49134134_49134156delGGCGCGGTAGTGGGACAGCTCCT	ENST00000222122.5	-	4	1359_1381	c.916_938delAGGAGCTGTCCCACTACCGCGCC	c.(916-939)aggagctgtcccactaccgcgcccfs	p.RSCPTTAP306fs	DBP_ENST00000599385.1_Frame_Shift_Del_p.RSCPTTAP104fs|DBP_ENST00000593500.1_Frame_Shift_Del_p.RSCPTTAP104fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	306	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)		GGACAGCACGGCGCGGTAGTGGGACAGCTCCTGGCGCACGGCC	0.686																																						.											0																																										SO:0001589	frameshift_variant	1628			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.916_938delAGGAGCTGTCCCACTACCGCGCC	19.37:g.49134134_49134156delGGCGCGGTAGTGGGACAGCTCCT	ENSP00000222122:p.Arg306fs		A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	CCDS12728.1																																																																																				0.686	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		-	49134156	GGCGCGGTAGTGGGACAGCTCCT	-	49134134	7	5	5	1	0	1	0	1	0	0	0	0	4256	1203	42	0	43	0	DBP	19	49134134	Frame_Shift_Del	DEL	GGCGCGGTAGTGGGACAGCTCCT	TCGA-KL-8327-01A-11D-2310-10	1	49134134	9994849	43	363	7	2									
SHANK1	50944	hgsc.bcm.edu;mdanderson.org	37	chr19	51169881	51169881	+	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	tggggctggtgggggtaacaGggtctcggagtcccccgctg	4	8	19	10	2	1	0	0	0	1	0	3	1	2	1	2	7	1	3	2	7	1	1			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr19:51169881G>A	ENST00000293441.1	-	22	5354	c.5336C>T	c.(5335-5337)cCt>cTt	p.P1779L	SHANK1_ENST00000359082.3_Missense_Mutation_p.P1770L|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1166L|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1787L|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1779					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)		GGGGGTAACAGGGTCTCGGAG	0.711																																						.											0													5	6	6					19																	51169881		1822	3762	5584	SO:0001583	missense	50944			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.5336C>T	19.37:g.51169881G>A	ENSP00000293441:p.Pro1779Leu		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	7.206	0.594517	0.13875	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.39592	1.2;1.33;1.16;1.07	2.35	2.35	0.29111	.	0.146929	0.25944	U	0.027299	T	0.37128	0.0992	L	0.58810	1.83	0.47862	D	0.999533	B;P	0.34639	0.197;0.461	B;B	0.33339	0.024;0.162	T	0.36648	-0.9739	10	0.41790	T	0.15	.	11.7963	0.52102	0.0:0.0:1.0:0.0	.	1779;1166	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	L	1779;1166;1770;1787	ENSP00000293441:P1779L;ENSP00000375689:P1166L;ENSP00000351984:P1770L;ENSP00000375690:P1787L	ENSP00000293441:P1779L	P	-	2	0	SHANK1	55861693	0.982000	0.34865	0.990000	0.47175	0.547000	0.35210	2.567000	0.45956	1.334000	0.45468	0.195000	0.17529	CCT		0.711	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51169881	G	A	51169881	3	1	5	1	0	0	0	0	1	0	0	0	14264	1000	35	4	1157	4	SHANK1	19	51169881	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	2035747	51169881	7959102	44	364											
HSPA12B	116835	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr20	3730674	3730674	+	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	gagcagctgctgtgccgcatCttcggcgaggacttcatcgc	6	9	13	13	4	2	0	1	0	1	0	4	3	2	1	1	2	4	4	1	2	0	2			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:3730674C>G	ENST00000254963.2	+	11	1246	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HSPA12B_ENST00000542646.1_Missense_Mutation_p.I201M	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	367							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TGTGCCGCATCTTCGGCGAGG	0.682																																						.											0													13	13	13					20																	3730674		2194	4299	6493	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1101C>G	20.37:g.3730674C>G	ENSP00000254963:p.Ile367Met		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689871	0.68271	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.09538	2.97;2.97;2.97	5.18	2.07	0.26955	.	0.049499	0.85682	D	0.000000	T	0.19127	0.0459	L	0.48174	1.505	0.46376	D	0.999015	D;D	0.64830	0.994;0.991	D;D	0.71656	0.947;0.974	T	0.02015	-1.1229	10	0.34782	T	0.22	.	6.3321	0.21276	0.4965:0.4163:0.0:0.0872	.	366;367	B7ZLP2;Q96MM6	.;HS12B_HUMAN	M	367;201;281	ENSP00000254963:I367M;ENSP00000441506:I201M;ENSP00000382608:I281M	ENSP00000254963:I367M	I	+	3	3	HSPA12B	3678674	0.031000	0.19500	1.000000	0.80357	0.981000	0.71138	-0.739000	0.04866	0.647000	0.30713	-0.279000	0.10071	ATC		0.682	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		G	3730674	C	G	3730674	3	3	5	1	0	0	0	0	1	0	0	0	7405	903	32	5	1139	5	HSPA12B	20	3730674	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		3730674	59294846	45	365											
C20orf134	170487	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	32255643	32255643	+	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	gcgtgggtaacgggtgctgcGtctgcctcagcagtgagcgc	5	8	17	11	4	2	1	1	1	1	0	2	1	2	1	1	2	6	3	1	2	1	1	rs144190881	byFrequency	TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:32255643G>C	ENST00000330271.4	+	1	1340	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	114																	CGGGTGCTGCGTCTGCCTCAG	0.706																																						.											0													16	17	17					20																	32255643		2199	4290	6489	SO:0001583	missense	170487			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.340G>C	20.37:g.32255643G>C	ENSP00000329647:p.Val114Leu		B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165517	0.21538	.	.	ENSG00000182584	ENST00000330271	T	0.06528	3.29	5.42	-1.13	0.09775	.	0.822137	0.10138	N	0.711191	T	0.04407	0.0121	L	0.31207	0.915	0.19775	N	0.99996	B	0.11235	0.004	B	0.17979	0.02	T	0.44081	-0.9351	10	0.87932	D	0	-6.4887	1.4132	0.02295	0.3262:0.2569:0.2981:0.1189	.	114	Q5JWF8	CT134_HUMAN	L	114	ENSP00000329647:V114L	ENSP00000329647:V114L	V	+	1	0	C20orf134	31719304	0.766000	0.28496	0.000000	0.03702	0.009000	0.06853	1.458000	0.35223	-0.441000	0.07201	-0.367000	0.07326	GTC		0.706	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1			C	32255643	G	C	32255643	3	2	5	1	0	0	0	0	1	0	0	0	2087	1145	40	5	342	5	C20orf134	20	32255643	Missense_Mutation	SNP	G	TCGA-KL-8327-01A-11D-2310-10	28524969	32255643	30769877	46	366											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147658	33147658	+	Missense_Mutation	SNP	T	T	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	aggagaaagacgaggacggcTtcctctatatggtctacgcc	11	8	12	10	3	2	2	0	0	2	2	3	5	3	3	2	4	1	1	2	4	4	4			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr20:33147658T>C	ENST00000360668.3	+	4	1083	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.F112L|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.F108L|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	108					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CGAGGACGGCTTCCTCTATAT	0.647																																						.											0													45	48	47					20																	33147658		2203	4300	6503	SO:0001583	missense	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.322T>C	20.37:g.33147658T>C	ENSP00000353886:p.Phe108Leu		E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	T	35	5.472232	0.96274	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.58652	0.32;0.32;0.32	5.57	5.57	0.84162	.	0.043530	0.85682	D	0.000000	T	0.76364	0.3977	M	0.85630	2.765	0.80722	D	1	P;B	0.42620	0.785;0.057	P;B	0.56823	0.807;0.047	T	0.79974	-0.1577	10	0.72032	D	0.01	-4.7506	15.3706	0.74560	0.0:0.0:0.0:1.0	.	108;112	Q9H492;Q9H492-2	MLP3A_HUMAN;.	L	112;108;108	ENSP00000363970:F112L;ENSP00000353886:F108L;ENSP00000380821:F108L	ENSP00000353886:F108L	F	+	1	0	MAP1LC3A	32611319	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.967000	0.87967	2.115000	0.64714	0.260000	0.18958	TTC		0.647	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		C	33147658	T	C	33147658	3	2	5	1	0	0	0	0	1	0	0	0	9230	1609	56	2	392	2	MAP1LC3A	20	33147658	Missense_Mutation	SNP	T	TCGA-KL-8327-01A-11D-2310-10	892015	33147658	29877862	47	367											
ASCC2	84164	mdanderson.org	37	chr22	30197985	30197985	+	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	cccacctgtctctcccacctGtctaggttgcggtccagctg	4	11	9	17	1	2	0	0	0	2	0	5	0	4	0	5	2	2	2	5	2	1	2			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chr22:30197985G>A	ENST00000397771.2	-	15	1743	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	ASCC2_ENST00000542393.1_Silent_p.D446D|ASCC2_ENST00000307790.3_Silent_p.D522D			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTCCCACCTGTCTAGGTTGC	0.642																																						.											0													25	21	23					22																	30197985		2203	4298	6501	SO:0001819	synonymous_variant	84164			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1566C>T	22.37:g.30197985G>A			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	ENST00000397771.2	37	CCDS13869.1																																																																																				0.642	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		A	30197985	G	A	30197985	2	1	5	1	0	0	0	0	0	0	0	1	1032	1368	48	4		4	ASCC2	22	30197985	Silent	SNP	G	TCGA-KL-8327-01A-11D-2310-10		30197985	21106581	48	368											
NHS	4810	broad.mit.edu	37	chrX	17745123	17745123	+	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	ttatagatctctatctaattCaagcaccgctacgggtacca	12	12	6	11	2	3	1	1	0	2	1	4	1	3	1	2	1	3	3	2	1	7	7			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:17745123C>A	ENST00000380060.3	+	6	3172	c.2834C>A	c.(2833-2835)tCa>tAa	p.S945*	NHS_ENST00000398097.3_Nonsense_Mutation_p.S789*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	966					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)					CTATCTAATTCAAGCACCGCT	0.438																																						.											0													108	104	105					X																	17745123		2203	4300	6503	SO:0001587	stop_gained	4810				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.2834C>A	X.37:g.17745123C>A	ENSP00000369400:p.Ser945*		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	43	10.066554	0.99329	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.93	5.93	0.95920	.	0.055012	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5647	19.2927	0.94108	0.0:1.0:0.0:0.0	.	.	.	.	X	945;789;787	.	ENSP00000369397:S787X	S	+	2	0	NHS	17655044	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.509000	0.84616	0.538000	0.68166	TCA		0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		A	17745123	C	A	17745123	4	1	5	1	0	0	0	0	0	1	0	0	10411	838	29	5	2961	5	NHS	23	17745123	Nonsense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10		17745123	137525437	49	369											
APOO	79135	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	23874422	23874422	+	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	aaaaagatgctcctcaccttTtgaaagttctccttccacaa	13	12	4	12	0	2	2	1	1	1	1	5	2	4	2	4	0	1	2	4	0	4	4			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:23874422T>C	ENST00000379226.4	-	7	789	c.558A>G	c.(556-558)caA>caG	p.Q186Q	APOO_ENST00000379220.3_Silent_p.Q167Q	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	186					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						TCCTCACCTTTTGAAAGTTCT	0.333																																						.											0													149	153	151					X																	23874422		2203	4300	6503	SO:0001819	synonymous_variant	79135			BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"Apolipoproteins"	28727	protein-coding gene	gene with protein product		300753	"family with sequence similarity 121B"	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.558A>G	X.37:g.23874422T>C			B2R4K9|Q9H3J9	Silent	SNP	ENST00000379226.4	37	CCDS14208.1																																																																																				0.333	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		C	23874422	T	C	23874422	2	2	5	1	0	0	0	0	0	0	0	1	813	1838	64	4		4	APOO	23	23874422	Silent	SNP	T	TCGA-KL-8327-01A-11D-2310-10	6129299	23874422	131396138	50	370											
ITIH5L	347365	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	54784436	54784436	+	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	cagggtatgagggctctctcCcaatggctccagctctttgg	6	11	12	12	0	2	1	0	1	2	0	5	1	4	1	2	4	1	4	2	4	2	2			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:54784436C>T	ENST00000218436.6	-	8	2100	c.2071G>A	c.(2071-2073)Gga>Aga	p.G691R		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	691					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGGCTCTCTCCCAATGGCTCC	0.498																																						.											0													144	119	128					X																	54784436		2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2071G>A	X.37:g.54784436C>T	ENSP00000218436:p.Gly691Arg		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.413	-0.912511	0.02415	.	.	ENSG00000102313	ENST00000218436	T	0.02323	4.34	3.95	0.289	0.15723	.	2.233900	0.03836	U	0.269889	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.13407	0.009	T	0.45920	-0.9228	10	0.14252	T	0.57	.	1.3401	0.02153	0.3194:0.379:0.1662:0.1354	.	691	Q6UXX5	ITH5L_HUMAN	R	691	ENSP00000218436:G691R	ENSP00000218436:G691R	G	-	1	0	ITIH5L	54801161	0.000000	0.05858	0.027000	0.17364	0.014000	0.08584	-0.070000	0.11523	0.434000	0.26340	0.597000	0.82753	GGA		0.498	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54784436	C	T	54784436	3	4	5	1	0	0	0	0	1	0	0	0	7908	632	22	3	1894	3	ITIH5L	23	54784436	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	30910014	54784436	100486124	51	371											
RBMX	27316	mdanderson.org	37	chrX	135957699	135957699	+	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	tacgagagggcagcggttccCttcgaggtggacctccataa	9	8	13	11	3	0	1	0	0	0	1	3	4	2	2	3	4	2	2	3	4	2	4			TCGA-KL-8327-01A-11D-2310-10	TCGA-KL-8327-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d72a7338-c144-4c62-a70e-2177a3b4b77e	15d4fbce-ae77-4500-ab53-a29ab6c75019	g.chrX:135957699C>T	ENST00000320676.7	-	6	741	c.587G>A	c.(586-588)aGg>aAg	p.R196K	RBMX_ENST00000565438.1_Missense_Mutation_p.R68K|RBMX_ENST00000570135.1_Missense_Mutation_p.R61K|RBMX_ENST00000431446.3_Missense_Mutation_p.G88R|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_Missense_Mutation_p.R196K	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	196	Necessary for the association to nascent RNAPII transcripts and nuclear localization.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CAGCGGTTCCCTTCGAGGTGG	0.378																																						.											0													73	71	72					X																	135957699		2203	4299	6502	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.587G>A	X.37:g.135957699C>T	ENSP00000359645:p.Arg196Lys		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.5|22.5	4.293036|4.293036	0.80914|0.80914	.|.	.|.	ENSG00000147274|ENSG00000147274	ENST00000431446|ENST00000320676;ENST00000449161	T|T	0.05925|0.77877	3.37|-1.13	5.6|5.6	5.6|5.6	0.85130|0.85130	.|RBM1CTR (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.88336|0.88336	0.6409|0.6409	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999996|0.999996	B|D;D	0.23128|0.76494	0.08|0.999;0.979	B|D;D	0.12837|0.74023	0.008|0.976;0.982	D|D	0.88142|0.88142	0.2845|0.2845	7|8	.|.	.|.	.|.	.|.	18.8827|18.8827	0.92362|0.92362	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88|196;183	B4E3U4|P38159;Q8N8Y7	.|HNRPG_HUMAN;.	R|K	88|196;183	ENSP00000411989:G88R|ENSP00000359645:R196K	.|.	G|R	-|-	1|2	0|0	RBMX|RBMX	135785365|135785365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.480000|0.480000	0.33159|0.33159	7.445000|7.445000	0.80570|0.80570	2.493000|2.493000	0.84123|0.84123	0.600000|0.600000	0.82982|0.82982	GGG|AGG		0.378	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		T	135957699	C	T	135957699	3	4	5	1	0	0	0	0	1	0	0	0	13151	681	24	4	659	4	RBMX	23	135957699	Missense_Mutation	SNP	C	TCGA-KL-8327-01A-11D-2310-10	81173263	135957699	19312861	52	372											
ZBTB17	7709	broad.mit.edu	37	chr1	16268583	16268583	+	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	agcctgcagcacctgcccggCaggccacgtgccacctggcc	6	4	12	19	2	0	0	0	0	0	0	0	0	0	0	7	3	5	3	7	3	0	0			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:16268583C>T	ENST00000375743.4	-	16	2525	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	ZBTB17_ENST00000375733.2_Missense_Mutation_p.A772T|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A683T	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	765	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGCCCGGCAGGCCACGTG	0.657																																						.											0													56	52	53					1																	16268583		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2293G>A	1.37:g.16268583C>T	ENSP00000364895:p.Ala765Thr		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.427|8.427	0.847741|0.847741	0.17034|0.17034	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142|ENST00000440560	T;T;T|.	0.13307|.	2.6;2.61;2.78|.	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	0.070862|.	0.56097|.	D|.	0.000028|.	T|T	0.31327|0.31327	0.0793|0.0793	N|N	0.04880|0.04880	-0.145|-0.145	0.80722|0.80722	D|D	1|1	P;B;B|.	0.37731|.	0.607;0.1;0.004|.	B;B;B|.	0.32465|.	0.146;0.038;0.005|.	T|T	0.12243|0.12243	-1.0555|-1.0555	10|5	0.11794|.	T|.	0.64|.	.|.	8.3812|8.3812	0.32472|0.32472	0.0:0.8123:0.0:0.1877|0.0:0.8123:0.0:0.1877	.|.	772;683;765|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	T|Y	765;772;684;683|171	ENSP00000364895:A765T;ENSP00000364885:A772T;ENSP00000438529:A683T|.	ENSP00000364885:A772T|.	A|C	-|-	1|2	0|0	ZBTB17|ZBTB17	16141170|16141170	0.025000|0.025000	0.19082|0.19082	0.984000|0.984000	0.44739|0.44739	0.435000|0.435000	0.31806|0.31806	0.600000|0.600000	0.24104|0.24104	2.173000|2.173000	0.68751|0.68751	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.657	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		T	16268583	C	T	16268583	3	4	6	1	0	0	0	0	1	0	0	0	17524	710	25	4	122	4	ZBTB17	1	16268583	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10		16268583	232982038	1	373											
PEF1	553115	broad.mit.edu	37	chr1	32101118	32101118	+	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	gcttgtcctgcagctcctggGcagccctgcaggaagagcaa	8	7	13	13	0	0	1	0	0	0	1	2	2	2	2	3	2	5	6	3	2	2	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:32101118G>A	ENST00000373703.4	-	2	52	c.30C>T	c.(28-30)tgC>tgT	p.C10C	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Silent_p.C10C	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	10					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)		CAGCTCCTGGGCAGCCCTGCA	0.562																																						.											0													18	20	19					1																	32101118		2189	4282	6471	SO:0001819	synonymous_variant	553115				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.30C>T	1.37:g.32101118G>A				Silent	SNP	ENST00000373703.4	37	CCDS345.1																																																																																				0.562	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		A	32101118	G	A	32101118	2	1	6	1	0	0	0	0	0	0	0	1	11718	1195	42	3		3	PEF1	1	32101118	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	15832535	32101118	217149503	2	374											
TAL1	6886	hgsc.bcm.edu	37	chr1	47685487	47685487	+	Missense_Mutation	SNP	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	ctcctccgtgtagctgtccgGgctggctgccccatccaggg	3	9	13	16	2	0	0	0	0	0	0	4	0	4	0	6	3	2	4	6	3	1	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:47685487G>T	ENST00000294339.3	-	4	1477	c.901C>A	c.(901-903)Ccg>Acg	p.P301T	TAL1_ENST00000371884.2_Missense_Mutation_p.P301T|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.P303T	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	301					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|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 factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TAGCTGTCCGGGCTGGCTGCC	0.711			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																	.		Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0													24	29	27					1																	47685487		2189	4280	6469	SO:0001583	missense	6886			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.901C>A	1.37:g.47685487G>T	ENSP00000294339:p.Pro301Thr		D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758806	0.69763	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.98633	-5.03;-5.04;-5.03	5.05	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	L	0.34521	1.04	0.58432	D	0.999998	P	0.48503	0.911	B	0.42282	0.382	D	0.96746	0.9550	10	0.66056	D	0.02	.	14.214	0.65781	0.0:0.0:0.85:0.15	.	301	P17542	TAL1_HUMAN	T	301;303;301	ENSP00000360951:P301T;ENSP00000360950:P303T;ENSP00000294339:P301T	ENSP00000294339:P301T	P	-	1	0	TAL1	47458074	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.404000	0.79996	2.363000	0.80096	0.478000	0.44815	CCG		0.711	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		T	47685487	G	T	47685487	3	4	6	1	0	0	0	0	1	0	0	0	15538	1232	43	5	98	5	TAL1	1	47685487	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	15584369	47685487	201565134	3	375											
NFIA	4774	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	61869880	61869880	+	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	ccatccgctatcaccctcagGagacgctgaaagaatttgtc	11	9	8	13	2	2	3	2	1	0	2	4	4	3	3	3	1	0	2	3	1	3	2			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:61869880G>A	ENST00000403491.3	+	8	1664	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	NFIA_ENST00000357977.5_Missense_Mutation_p.E42K|NFIA_ENST00000371184.2_Missense_Mutation_p.E265K|NFIA_ENST00000407417.3_Missense_Mutation_p.E386K|NFIA_ENST00000371191.1_Missense_Mutation_p.E417K|NFIA_ENST00000371189.4_Missense_Mutation_p.E439K|NFIA_ENST00000371185.2_Missense_Mutation_p.E372K|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.E351K|NFIA_ENST00000371187.3_Missense_Mutation_p.E394K	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	394					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						TCACCCTCAGGAGACGCTGAA	0.512																																						.											0													107	96	100					1																	61869880		2203	4300	6503	SO:0001583	missense	4774			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.1180G>A	1.37:g.61869880G>A	ENSP00000384523:p.Glu394Lys		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967262	0.74131	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	N	0.19112	0.55	0.80722	D	1	D;P;B;P;B	0.54964	0.969;0.884;0.022;0.884;0.017	P;P;B;P;B	0.47673	0.554;0.482;0.015;0.482;0.008	T	0.14559	-1.0468	10	0.25751	T	0.34	-14.2049	20.0274	0.97527	0.0:0.0:1.0:0.0	.	439;417;372;394;394	F8W8W3;B1AKN8;B1AKN5;Q12857;Q12857-2	.;.;.;NFIA_HUMAN;.	K	417;386;439;394;394;372;265;351	ENSP00000360233:E417K;ENSP00000384680:E386K;ENSP00000360231:E439K;ENSP00000384523:E394K;ENSP00000360227:E372K;ENSP00000360226:E265K	ENSP00000360226:E265K	E	+	1	0	NFIA	61642468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.379000	0.97198	2.798000	0.96311	0.557000	0.71058	GAG		0.512	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		A	61869880	G	A	61869880	3	1	6	1	0	0	0	0	1	0	0	0	10370	1175	41	3	1356	3	NFIA	1	61869880	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	14184393	61869880	187380741	4	376											
NBPF10	100132406	mdanderson.org	37	chr1	145304613	145304613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctcattggctcatccTctcatgttgaatgggaggat	9	13	9	10	0	3	1	3	1	2	0	6	3	4	3	1	3	1	2	1	3	2	2			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:145304613T>C	ENST00000369339.3	+	7	986	c.733T>C	c.(733-735)Tct>Cct	p.S245P	NBPF10_ENST00000342960.5_Missense_Mutation_p.S516P|NBPF10_ENST00000369338.1_Missense_Mutation_p.S245P|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	516	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGCTCATCCTCTCATGTTGA	0.428																																						.											0																																										SO:0001583	missense	100132406			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.733T>C	1.37:g.145304613T>C	ENSP00000358345:p.Ser245Pro		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	7.591	0.670689	0.14776	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960;ENST00000449032	T;T	0.03607	3.87;3.91	0.745	0.745	0.18359	.	.	.	.	.	T	0.03695	0.0105	L	0.50333	1.59	0.09310	N	1	P;D;D;D	0.64830	0.676;0.994;0.962;0.985	B;D;P;P	0.64144	0.307;0.922;0.756;0.783	T	0.39542	-0.9609	9	0.72032	D	0.01	.	3.8102	0.08793	0.0:0.0:0.0:1.0	.	191;481;447;245	Q4VC10;Q3BBV7;Q5U227;A8MQ30	.;.;.;.	P	441;245;245;516;5	ENSP00000358344:S245P;ENSP00000345684:S516P	ENSP00000345684:S516P	S	+	1	0	NBPF10	144015970	0.001000	0.12720	0.003000	0.11579	0.041000	0.13682	1.237000	0.32695	0.571000	0.29365	0.136000	0.15936	TCT		0.428	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		C	145304613	T	C	145304613	3	2	6	1	0	0	0	0	1	0	0	0	10193	1551	54	2	1584	2	NBPF10	1	145304613	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	83434733	145304613	103946008	5	377											
IQGAP3	128239	ucsc.edu;bcgsc.ca	37	chr1	156531643	156531643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaacctgtgccttctgcTctctgtctgagttcagctgc	4	14	10	13	0	4	1	1	1	3	0	5	1	4	1	2	1	5	4	2	1	1	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:156531643T>C	ENST00000361170.2	-	10	1038	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	343					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCTTCTGCTCTCTGTCTGA	0.552																																						.											0													99	78	85					1																	156531643		2203	4300	6503	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1028A>G	1.37:g.156531643T>C	ENSP00000354451:p.Glu343Gly		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946957	0.73672	.	.	ENSG00000183856	ENST00000361170	T	0.06449	3.3	5.41	5.41	0.78517	.	0.060400	0.64402	D	0.000004	T	0.06917	0.0176	M	0.69248	2.105	0.51233	D	0.999918	P	0.49090	0.919	P	0.45343	0.477	T	0.04635	-1.0937	10	0.62326	D	0.03	-28.6821	14.2677	0.66129	0.0:0.0:0.0:1.0	.	343	Q86VI3	IQGA3_HUMAN	G	343	ENSP00000354451:E343G	ENSP00000354451:E343G	E	-	2	0	IQGAP3	154798267	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.845000	0.86875	2.059000	0.61396	0.459000	0.35465	GAG		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		C	156531643	T	C	156531643	3	2	6	1	0	0	0	0	1	0	0	0	7816	1551	54	2	3983	2	IQGAP3	1	156531643	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	11227030	156531643	92718978	6	378											
RASAL2	9462	bcgsc.ca	37	chr1	178426034	178426034	+	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	atttgaagaccccactgacaGgtatgaaagagagaatttga	16	9	10	6	0	0	7	0	4	0	3	0	8	0	7	2	1	0	1	2	1	4	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:178426034G>T	ENST00000462775.1	+	11	2092	c.1967G>T	c.(1966-1968)aGt>aTt	p.S656I	RASAL2_ENST00000448150.3_Splice_Site_p.S786I|RASAL2_ENST00000367649.3_Splice_Site_p.S797I	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	656					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						CCCACTGACAGGTATGAAAGA	0.388																																						.											0													61	64	63					1																	178426034		2203	4300	6503	SO:0001630	splice_region_variant	9462			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.1967+1G>T	1.37:g.178426034G>T			F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.551036|3.551036	0.65311|0.65311	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.10477	.|2.87;2.87;2.87	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.110656	.|0.40144	.|N	.|0.001179	T|T	0.12944|0.12944	0.0314|0.0314	N|N	0.25485|0.25485	0.75|0.75	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.50528	.|0.57;0.57;0.936	.|P;B;B	.|0.45577	.|0.486;0.292;0.282	T|T	0.02009|0.02009	-1.1230|-1.1230	5|10	.|0.56958	.|D	.|0.05	.|.	18.8667|18.8667	0.92294|0.92294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|786;656;797	.|B1AKC7;Q9UJF2;F8W755	.|.;NGAP_HUMAN;.	H|I	206|786;797;656	.|ENSP00000407768:S786I;ENSP00000356621:S797I;ENSP00000420558:S656I	.|ENSP00000356621:S797I	Q|S	+|+	3|2	2|0	RASAL2|RASAL2	176692657|176692657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.024000|9.024000	0.93689|0.93689	2.438000|2.438000	0.82558|0.82558	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.388	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	Missense_Mutation	T	178426034	G	T	178426034	5	4	6	1	0	0	0	0	0	0	1	0	13064	1014	35	5	2478	5	RASAL2	1	178426034	Splice_Site	SNP	G	TCGA-KL-8328-01A-11D-2310-10	21894391	178426034	70824587	7	379											
RBBP5	5929	bcgsc.ca	37	chr1	205070729	205070729	+	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	aaggtaagatctcactcaccTccccttccgggcaaactcaa	12	8	6	15	1	3	1	3	0	1	1	6	1	5	1	4	2	1	2	4	2	4	2			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr1:205070729T>C	ENST00000264515.6	-	6	772	c.631A>G	c.(631-633)Agt>Ggt	p.S211G	RBBP5_ENST00000367164.1_Splice_Site_p.S211G	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	211					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)			CTCACTCACCTCCCCTTCCGG	0.383																																						.											0													194	192	192					1																	205070729		2203	4300	6503	SO:0001630	splice_region_variant	5929			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.632+1A>G	1.37:g.205070729T>C			A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149489	0.57151	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.19105	2.17;2.17	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.15141	0.005;0.007;0.007;0.012	B;B;B;B	0.16722	0.016;0.013;0.009;0.013	T	0.01661	-1.1301	10	0.49607	T	0.09	.	15.902	0.79384	0.0:0.0:0.0:1.0	.	84;246;211;211	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	G	211	ENSP00000264515:S211G;ENSP00000356132:S211G	ENSP00000264515:S211G	S	-	1	0	RBBP5	203337352	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.920000	0.87521	2.238000	0.73509	0.477000	0.44152	AGT		0.383	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	Missense_Mutation	C	205070729	T	C	205070729	5	2	6	1	0	0	0	0	0	0	1	0	13102	1565	54	2	1021	2	RBBP5	1	205070729	Splice_Site	SNP	T	TCGA-KL-8328-01A-11D-2310-10	26644695	205070729	44179892	8	380											
C2orf43	60526	bcgsc.ca	37	chr2	20886772	20886772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcacagagtcgaatgTctccttctggaaaatccttc	9	15	6	11	1	3	1	1	0	3	1	8	3	4	2	2	1	0	0	2	1	3	4			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:20886772T>C	ENST00000237822.3	-	7	948	c.869A>G	c.(868-870)gAc>gGc	p.D290G	C2orf43_ENST00000541941.1_Missense_Mutation_p.D160G|C2orf43_ENST00000403006.2_Missense_Mutation_p.D160G|C2orf43_ENST00000381090.3_Missense_Mutation_p.D290G|C2orf43_ENST00000435420.2_Missense_Mutation_p.D242G|C2orf43_ENST00000440866.2_3'UTR	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	290										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTCGAATGTCTCCTTCTGG	0.383																																						.											0													133	122	125					2																	20886772		2203	4300	6503	SO:0001583	missense	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.869A>G	2.37:g.20886772T>C	ENSP00000237822:p.Asp290Gly		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.981877	0.93044	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941	T;T;T	0.44881	0.91;1.54;0.91	6.08	6.08	0.98989	.	0.382752	0.28766	N	0.014219	T	0.57403	0.2051	L	0.58669	1.825	0.80722	D	1	D;D;P;P	0.89917	0.992;1.0;0.67;0.619	P;D;B;B	0.64506	0.85;0.926;0.232;0.178	T	0.51325	-0.8720	10	0.21540	T	0.41	-22.398	15.2149	0.73258	0.0:0.0:0.0:1.0	.	248;242;290;290	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	G	160;290;290;242;160	ENSP00000384267:D160G;ENSP00000388635:D242G;ENSP00000440570:D160G	ENSP00000237822:D290G	D	-	2	0	C2orf43	20750253	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.604000	0.67626	2.333000	0.79357	0.533000	0.62120	GAC		0.383	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		C	20886772	T	C	20886772	3	2	6	1	0	0	0	0	1	0	0	0	2167	1667	58	2	112	2	C2orf43	2	20886772	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10		20886772	222312601	9	381											
MSH6	2956	mdanderson.org	37	chr2	48010558	48010558	+	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	gggcccaggcccttggcgcgCtccgcgtcaccgcccaaggc	4	4	14	19	5	1	0	1	0	0	0	2	0	2	0	5	4	0	1	5	4	1	1	rs1042820	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:48010558C>A	ENST00000234420.5	+	1	338	c.186C>A	c.(184-186)cgC>cgA	p.R62R	MSH6_ENST00000540021.1_Silent_p.R62R|RNU6-688P_ENST00000516063.1_RNA|MSH6_ENST00000538136.1_5'Flank	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	62					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)			CCTTGGCGCGCTCCGCGTCAC	0.756			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	346	0.0690895	0.0204	0.1138	5008	,	,		8411	0		0.175	False		,,,				2504	0.0654					.	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		157,3307		7,143,1582	3	4	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	186	1.4	0	2	dbSNP_86	3	1075,6023		89,897,2563	no	coding-synonymous	MSH6	NM_000179.2		96,1040,4145	AA,AC,CC		15.1451,4.5323,11.6645		62/1361	48010558	1232,9330	1732	3549	5281	SO:0001819	synonymous_variant	2956	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	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.186C>A	2.37:g.48010558C>A			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	CCDS1836.1																																																																																				0.756	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		A	48010558	C	A	48010558	2	1	6	1	0	0	0	0	0	0	0	1	9874	784	28	5		5	MSH6	2	48010558	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	27123786	48010558	195188815	10	382											
EXOC6B	23233	ucsc.edu;bcgsc.ca	37	chr2	72725650	72725650	+	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	tctgatttctaacagcatgtCaaaaagctgatttacaggga	14	12	8	7	0	3	2	1	2	2	0	3	3	3	3	0	1	4	2	0	1	4	4			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:72725650C>T	ENST00000272427.6	-	13	1400	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	EXOC6B_ENST00000410104.1_Missense_Mutation_p.D424N	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	424					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.D424H(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AACAGCATGTCAAAAAGCTGA	0.338																																						.											1	Substitution - Missense(1)	NS(1)											87	78	81					2																	72725650		1821	4093	5914	SO:0001583	missense	23233			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.1270G>A	2.37:g.72725650C>T	ENSP00000272427:p.Asp424Asn		B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957160	0.92726	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.30714	1.52;1.52	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	L	0.54323	1.7	0.80722	D	1	D;P	0.63880	0.993;0.92	D;P	0.70935	0.971;0.73	T	0.25082	-1.0142	10	0.31617	T	0.26	.	16.1342	0.81471	0.0:1.0:0.0:0.0	.	424;424	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	N	424	ENSP00000272427:D424N;ENSP00000386698:D424N	ENSP00000272427:D424N	D	-	1	0	EXOC6B	72579158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.434000	0.80377	2.693000	0.91896	0.650000	0.86243	GAC		0.338	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		T	72725650	C	T	72725650	3	4	6	1	0	0	0	0	1	0	0	0	5309	826	29	4	1205	4	EXOC6B	2	72725650	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	24715092	72725650	170473723	11	383											
IL1RL1	9173	ucsc.edu	37	chr2	102964403	102964403	+	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	tctttttctttcttttgaatAgttgatcatcatagcatcta	9	21	4	7	0	6	2	2	2	4	0	6	2	6	2	0	0	1	2	0	0	4	9			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:102964403A>G	ENST00000233954.1	+	9	1241		c.e9-1			NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 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						TCTTTTGAATAGTTGATCATC	0.313																																						.											0													74	72	72					2																	102964403		2203	4300	6503	SO:0001630	splice_region_variant	9173			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.971-1A>G	2.37:g.102964403A>G			A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Splice_Site	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	a	13.35	2.212003	0.39102	.	.	ENSG00000115602	ENST00000233954	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3356	0.60516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL1RL1	102330835	1.000000	0.71417	0.996000	0.52242	0.375000	0.29983	4.979000	0.63806	2.231000	0.72958	0.455000	0.32223	.		0.313	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	Intron	G	102964403	A	G	102964403	5	3	6	1	0	0	0	0	0	0	1	0	7663	434	15	2	1016	2	IL1RL1	2	102964403	Splice_Site	SNP	A	TCGA-KL-8328-01A-11D-2310-10	30238753	102964403	140234970	12	384											
MBD5	55777	broad.mit.edu;mdanderson.org	37	chr2	149226187	149226187	+	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	ggaggcctgcccagcccagcGtcatcaggttcccagatata	9	7	11	14	1	2	1	2	0	0	1	3	2	3	2	4	3	3	1	4	3	2	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:149226187G>A	ENST00000407073.1	+	9	1672	c.675G>A	c.(673-675)gcG>gcA	p.A225A	MBD5_ENST00000404807.1_Silent_p.A225A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	225					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCAGCCCAGCGTCATCAGGTT	0.512																																						.											0													97	101	100					2																	149226187		2203	4300	6503	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.675G>A	2.37:g.149226187G>A			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1																																																																																				0.512	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			A	149226187	G	A	149226187	2	1	6	1	0	0	0	0	0	0	0	1	9347	1132	40	1		1	MBD5	2	149226187	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	46261784	149226187	93973186	13	385											
XIRP2	129446	broad.mit.edu	37	chr2	168100984	168100984	+	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	ttgaaacaaggcccattgacCagtttgatgaaagcattcat	14	11	8	8	0	1	4	1	4	0	0	1	4	1	4	2	1	2	2	2	1	3	4			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:168100984C>T	ENST00000409195.1	+	9	3171	c.3082C>T	c.(3082-3084)Cag>Tag	p.Q1028*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q1028*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q806*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	853					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						GCCCATTGACCAGTTTGATGA	0.363																																						.											0													62	58	59					2																	168100984		1836	4084	5920	SO:0001587	stop_gained	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3082C>T	2.37:g.168100984C>T	ENSP00000386840:p.Gln1028*		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	41	8.956275	0.99016	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	6.08	6.08	0.98989	.	0.109913	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.9057	19.4349	0.94788	0.0:1.0:0.0:0.0	.	.	.	.	X	1028;1028;806	.	ENSP00000295237:Q1028X	Q	+	1	0	XIRP2	167809230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.088000	0.50175	2.894000	0.99253	0.655000	0.94253	CAG		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168100984	C	T	168100984	4	4	6	1	0	0	0	0	0	1	0	0	17427	595	21	4	3112	4	XIRP2	2	168100984	Nonsense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	18874797	168100984	75098389	14	386											
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	chr2	170129474	170129474	+	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	tctgtatccagttggaagccGaatgtgcacttgcaacggaa	11	10	11	9	2	1	0	0	0	1	0	2	3	2	2	2	2	4	4	2	2	5	3	rs145709922	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:170129474G>A	ENST00000263816.3	-	15	2364	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	LRP2_ENST00000443831.1_Silent_p.F624F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	693	EGF-like 3. {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)"	GTTGGAAGCCGAATGTGCACT	0.488													G|||	2	0.000399361	0	0.0014	5008	,	,		20591	0		0.001	False		,,,				2504	0					.											0								G		4,4402	8.1+/-20.4	0,4,2199	249	233	239		2079	-11	0	2	dbSNP_134	239	35,8565	24.6+/-71.5	0,35,4265	no	coding-synonymous	LRP2	NM_004525.2		0,39,6464	AA,AG,GG		0.407,0.0908,0.2999		693/4656	170129474	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	4036				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.2079C>T	2.37:g.170129474G>A			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170129474	G	A	170129474	2	1	6	1	0	0	0	0	0	0	0	1	8956	1049	37	1		1	LRP2	2	170129474	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	2028490	170129474	73069899	15	387											
ABCA12	26154	ucsc.edu	37	chr2	215797365	215797365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctggaagtgttaagacTccatctggtcatcttgtgag	8	15	11	7	0	3	2	1	1	2	1	4	3	4	3	1	2	1	2	1	2	2	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr2:215797365T>C	ENST00000272895.7	-	53	8000	c.7781A>G	c.(7780-7782)gAg>gGg	p.E2594G	ABCA12_ENST00000389661.4_Missense_Mutation_p.E2276G|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2594					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)		GTGTTAAGACTCCATCTGGTC	0.418																																					Ovarian(66;664 1488 5121 34295)	.											0													111	105	107					2																	215797365		2203	4300	6503	SO:0001583	missense	26154			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.7781A>G	2.37:g.215797365T>C	ENSP00000272895:p.Glu2594Gly		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503623	0.44558	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89746	-2.56;-2.53	5.8	5.8	0.92144	.	1.521370	0.04281	N	0.343875	D	0.85159	0.5633	N	0.24115	0.695	0.80722	D	1	B;B	0.30361	0.039;0.277	B;B	0.24394	0.024;0.053	T	0.64807	-0.6320	10	0.72032	D	0.01	.	15.1201	0.72434	0.0:0.0:0.0:1.0	.	2594;2276	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	G	2594;2276	ENSP00000272895:E2594G;ENSP00000374312:E2276G	ENSP00000272895:E2594G	E	-	2	0	ABCA12	215505610	0.024000	0.19004	0.003000	0.11579	0.966000	0.64601	2.645000	0.46621	2.214000	0.71695	0.455000	0.32223	GAG		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		C	215797365	T	C	215797365	3	2	6	1	0	0	0	0	1	0	0	0	30	1551	54	2	10	2	ABCA12	2	215797365	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	45667891	215797365	27402008	16	388											
KAT2B	8850	mdanderson.org	37	chr3	20169035	20169035	+	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	gctgtaacctcaaatgagcaAgtcaaggtaagggtaaaccc	15	7	10	9	0	2	1	2	1	0	0	2	1	2	1	2	2	3	5	2	2	7	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:20169035A>G	ENST00000263754.4	+	11	2198	c.1743A>G	c.(1741-1743)caA>caG	p.Q581Q		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	581	Acetyl-CoA binding. {ECO:0000269|PubMed:10393169}.|N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAAATGAGCAAGTCAAGGTAA	0.458																																						.											0													161	142	149					3																	20169035		2203	4300	6503	SO:0001819	synonymous_variant	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1743A>G	3.37:g.20169035A>G			Q6NSK1	Silent	SNP	ENST00000263754.4	37	CCDS2634.1																																																																																				0.458	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		G	20169035	A	G	20169035	2	3	6	1	0	0	0	0	0	0	0	1	7982	69	3	2		2	KAT2B	3	20169035	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10		20169035	177853395	17	389											
CCDC66	285331	broad.mit.edu;mdanderson.org	37	chr3	56649272	56649272	+	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	ttggcgcaaaagggacatgaCacttctagactgattaaaaa	16	9	9	7	1	1	3	0	2	1	1	1	4	1	4	0	2	0	1	0	2	6	4			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:56649272C>T	ENST00000394672.3	+	12	1753	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	CCDC66_ENST00000326595.7_Silent_p.D527D|CCDC66_ENST00000436465.2_Silent_p.D561D	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	561					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGGGACATGACACTTCTAGAC	0.358																																						.											0													105	105	105					3																	56649272		2203	4300	6503	SO:0001819	synonymous_variant	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1683C>T	3.37:g.56649272C>T			B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	CCDS46852.1																																																																																				0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		T	56649272	C	T	56649272	2	4	6	1	0	0	0	0	0	0	0	1	2838	477	17	4		4	CCDC66	3	56649272	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	36480237	56649272	141373158	18	390											
ROBO2	6092	broad.mit.edu;mdanderson.org	37	chr3	77571941	77571941	+	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	cacaggtatgacatcaaagaCgattacacactaagaattaa	19	8	6	8	1	1	3	1	1	0	2	1	4	1	3	0	1	1	1	0	1	6	4	rs201344460		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:77571941C>T	ENST00000461745.1	+	6	1722	c.822C>T	c.(820-822)gaC>gaT	p.D274D	ROBO2_ENST00000332191.8_Silent_p.D274D|ROBO2_ENST00000487694.3_Silent_p.D290D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	274	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACATCAAAGACGATTACACAC	0.333													C|||	1	0.000199681	0	0	5008	,	,		16147	0		0.001	False		,,,				2504	0					.											0								C	,	2,3668		0,2,1833	121	115	117		870,822	0.4	1	3		117	1,8145		0,1,4072	yes	coding-synonymous,coding-synonymous	ROBO2	NM_001128929.2,NM_002942.4	,	0,3,5905	TT,TC,CC		0.0123,0.0545,0.0254	,	290/1395,274/1379	77571941	3,11813	1835	4073	5908	SO:0001819	synonymous_variant	6092			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.822C>T	3.37:g.77571941C>T			O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1																																																																																				0.333	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77571941	C	T	77571941	2	4	6	1	0	0	0	0	0	0	0	1	13514	535	19	1		1	ROBO2	3	77571941	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	20922669	77571941	120450489	19	391											
CRYBG3	131544	broad.mit.edu	37	chr3	97596465	97596468	+	Frame_Shift_Del	DEL	AGAG	AGAG	-																															tgaattttgatgaagatgacAgagaggcagctgatgaggaa																										TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	AGAG	AGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:97596465_97596468delAGAG	ENST00000182096.4	+	1	647_650	c.583_586delAGAG	c.(583-588)agagagfs	p.RE195fs		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2143							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAAGATGACAGAGAGGCAGCTGA	0.471																																						.											0																																										SO:0001589	frameshift_variant	131544					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.583_586delAGAG	3.37:g.97596465_97596468delAGAG	ENSP00000182096:p.Arg195fs		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Frame_Shift_Del	DEL	ENST00000182096.4	37																																																																																					0.471	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		-	97596468	AGAG	-	97596465	7	5	6	1	0	1	0	1	0	0	0	0	3913	180	7	0	585	0	CRYBG3	3	97596465	Frame_Shift_Del	DEL	AGAG	TCGA-KL-8328-01A-11D-2310-10	20024524	97596465	100425965	20	392											
TM4SF4	7104	broad.mit.edu	37	chr3	149192812	149192812	+	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	cccaagagatctggtttttcGgaggaatattaggaagcggt	11	11	13	6	2	1	1	0	0	1	1	2	5	1	4	1	5	1	1	1	5	5	4	rs556358999	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr3:149192812G>A	ENST00000305354.4	+	1	1052	c.148G>A	c.(148-150)Gga>Aga	p.G50R		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	50					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTGGTTTTTCGGAGGAATATT	0.428													G|||	2	0.000399361	0	0	5008	,	,		18859	0		0	False		,,,				2504	0.002					.											0													63	58	59					3																	149192812		1833	4087	5920	SO:0001583	missense	7104				CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"transmembrane 4 superfamily member 4"			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.148G>A	3.37:g.149192812G>A	ENSP00000305852:p.Gly50Arg		B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704458	0.88924	.	.	ENSG00000169903	ENST00000305354;ENST00000465758	T;T	0.30182	1.54;1.54	5.08	5.08	0.68730	.	0.152366	0.64402	D	0.000015	T	0.64148	0.2572	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69661	-0.5085	10	0.45353	T	0.12	-17.0483	18.8542	0.92244	0.0:0.0:1.0:0.0	.	50	P48230	T4S4_HUMAN	R	50	ENSP00000305852:G50R;ENSP00000419367:G50R	ENSP00000305852:G50R	G	+	1	0	TM4SF4	150675502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.084000	0.94076	2.524000	0.85096	0.561000	0.74099	GGA		0.428	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			A	149192812	G	A	149192812	3	1	6	1	0	0	0	0	1	0	0	0	15967	1117	39	1	150	1	TM4SF4	3	149192812	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	51596347	149192812	48829618	21	393											
TACC3	10460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	1729580	1729580	+	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	ctggcccaggtgccctggctGacctggactgctcaagctct	5	9	12	15	0	2	1	1	1	1	0	2	2	2	2	3	4	3	3	3	4	1	0			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:1729580G>T	ENST00000313288.4	+	4	557	c.451G>T	c.(451-453)Gac>Tac	p.D151Y		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	151					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TGCCCTGGCTGACCTGGACTG	0.602																																					Ovarian(120;482 2294 11894 35824)	.											0													86	100	95					4																	1729580		2203	4300	6503	SO:0001583	missense	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.451G>T	4.37:g.1729580G>T	ENSP00000326550:p.Asp151Tyr		Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315439	0.40996	.	.	ENSG00000013810	ENST00000313288;ENST00000493975;ENST00000458173	T;T;T	0.55930	2.46;0.49;0.49	4.0	-2.72	0.05968	.	3.916390	0.01690	N	0.026626	T	0.56992	0.2023	L	0.36672	1.1	0.09310	N	1	D;D	0.76494	0.999;0.997	D;P	0.66847	0.947;0.808	T	0.49504	-0.8933	10	0.72032	D	0.01	0.4971	1.7812	0.03032	0.1921:0.2484:0.4313:0.1282	.	151;151	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	Y	151	ENSP00000326550:D151Y;ENSP00000418095:D151Y;ENSP00000415914:D151Y	ENSP00000326550:D151Y	D	+	1	0	TACC3	1699378	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.681000	0.05191	-1.111000	0.02988	0.563000	0.77884	GAC		0.602	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			T	1729580	G	T	1729580	3	4	6	1	0	0	0	0	1	0	0	0	15500	1290	45	5	461	5	TACC3	4	1729580	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10		1729580	189424696	22	394											
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77816688	77816690	+	In_Frame_Del	DEL	TTG	TTG	-																															actggttggccagtttccacTtgttgtgctgacttttgagt																										TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:77816688_77816690delTTG	ENST00000334306.2	-	1	2312_2314	c.2313_2315delCAA	c.(2311-2316)aacaag>aag	p.N771del		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	771																	CAGTTTCCACTTGTTGTGCTGAC	0.473																																						.											0										5,4261		1,3,2129						0.5	1			240	0,8254		0,0,4127	no	coding	ANKRD56	NM_001029870.1		1,3,6256	A1A1,A1R,RR		0.0,0.1172,0.0399				5,12515				SO:0001651	inframe_deletion	345079				CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.2313_2315delCAA	4.37:g.77816691_77816693delTTG	ENSP00000334879:p.Asn771del		B2RP29	In_Frame_Del	DEL	ENST00000334306.2	37	CCDS34017.1																																																																																				0.473	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		-	77816690	TTG	-	77816688	7	5	6	1	0	1	0	1	0	0	0	0	682	1609	56	0	70	0	ANKRD56	4	77816688	In_Frame_Del	DEL	TTG	TCGA-KL-8328-01A-11D-2310-10	76087108	77816688	113337588	23	395	8	2									
ANKRD56	345079	bcgsc.ca	37	chr4	77816689	77816691	+	In_Frame_Del	DEL	TTG	TTG	-																															ctggttggccagtttccactTgttgtgctgacttttgagta																										TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:77816689_77816691delTTG	ENST00000334306.2	-	1	2311_2313	c.2312_2314delCAA	c.(2311-2316)acaaag>aag	p.T771del		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	771																	AGTTTCCACTTGTTGTGCTGACT	0.473																																						.											0																																										SO:0001651	inframe_deletion	345079				CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.2312_2314delCAA	4.37:g.77816689_77816691delTTG	ENSP00000334879:p.Thr771del		B2RP29	In_Frame_Del	DEL	ENST00000334306.2	37	CCDS34017.1																																																																																				0.473	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		-	77816691	TTG	-	77816689	7	5	6	1	0	1	0	1	0	0	0	0	682	1821	63	0	71	0	ANKRD56	4	77816689	In_Frame_Del	DEL	TTG	TCGA-KL-8328-01A-11D-2310-10	1	77816689	113337587	24	396	8	2									
PKD2	5311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	88986631	88986631	+	Nonsense_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	agttaaactttgacgaacttCgacaagatctcaaagggtga	15	10	9	7	2	1	3	1	2	1	1	3	5	1	3	0	1	2	1	0	1	5	3	rs121918040		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:88986631C>T	ENST00000508588.1	+	6	873	c.478C>T	c.(478-480)Cga>Tga	p.R160*	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Nonsense_Mutation_p.R742*|PKD2_ENST00000502363.1_Nonsense_Mutation_p.R160*			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					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)	p.R742*(1)		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)		TGACGAACTTCGACAAGATCT	0.403																																						.											1	Substitution - Nonsense(1)	endometrium(1)	GRCh37	CM961124	PKD2	M	rs121918040						86	82	83					4																	88986631		2203	4300	6503	SO:0001587	stop_gained	5311			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	ENST00000508588.1:c.478C>T	4.37:g.88986631C>T	ENSP00000427131:p.Arg160*		Q8TB08|Q9P0T6|Q9Y3X8	Nonsense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	C	41	8.974909	0.99023	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	.	.	.	5.89	5.05	0.67936	.	0.062020	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2108	14.8891	0.70594	0.0:0.9315:0.0:0.0685	.	.	.	.	X	742;160;160	.	ENSP00000237596:R742X	R	+	1	2	PKD2	89205655	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.802000	0.69122	1.497000	0.48584	0.655000	0.94253	CGA		0.403	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		T	88986631	C	T	88986631	4	4	6	1	0	0	0	0	0	1	0	0	11966	876	31	1	2266	1	PKD2	4	88986631	Nonsense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	11169942	88986631	102167645	25	397											
GRID2	2895	hgsc.bcm.edu;mdanderson.org	37	chr4	94411803	94411803	+	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	tctacaggcggggaagtcccGtacacgactctggctacccg	8	7	12	14	4	2	0	0	0	2	0	3	2	3	1	2	4	3	2	2	4	4	3	rs188016557	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:94411803G>A	ENST00000282020.4	+	12	2130	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P	GRID2_ENST00000510992.1_Silent_p.P529P	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	624					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)		GGGAAGTCCCGTACACGACTC	0.423													G|||	12	0.00239617	0	0	5008	,	,		14519	0.0109		0	False		,,,				2504	0.001					.											0													114	124	120					4																	94411803		2203	4300	6503	SO:0001819	synonymous_variant	2895			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.1872G>A	4.37:g.94411803G>A			E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																				0.423	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			A	94411803	G	A	94411803	2	1	6	1	0	0	0	0	0	0	0	1	6772	1132	40	1		1	GRID2	4	94411803	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	5425172	94411803	96742473	26	398											
FRG1	2483	mdanderson.org	37	chr4	190878552	190878552	+	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	tttgttatttgtttcacttaGgggaaaatggctttgttggc	7	19	11	4	0	1	0	1	0	0	0	1	1	1	1	0	4	0	4	0	4	4	7			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr4:190878552G>A	ENST00000226798.4	+	6	654		c.e6-1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GTTTCACTTAGGGGAAAATGG	0.353																																						.											0													10	16	14					4																	190878552		2087	4234	6321	SO:0001630	splice_region_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.433-1G>A	4.37:g.190878552G>A			A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	14.16	2.452126	0.43531	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6226	0.62146	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191115546	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	9.545000	0.98095	1.860000	0.53959	0.454000	0.30748	.		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	A	190878552	G	A	190878552	5	1	6	1	0	0	0	0	0	0	1	0	6046	1014	35	4	454	4	FRG1	4	190878552	Splice_Site	SNP	G	TCGA-KL-8328-01A-11D-2310-10	96466749	190878552	275724	27	399											
PROP1	5626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr5	177421251	177421251	+	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	cggtggcggcgccgggagtgCgggcggcccctctgtcctcc	1	6	18	16	6	1	0	0	0	1	0	3	1	3	1	5	6	1	0	5	6	0	0			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr5:177421251C>T	ENST00000308304.2	-	2	506	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	66					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P66P(2)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GCCGGGAGTGCGGGCGGCCCC	0.662																																						.											2	Substitution - coding silent(2)	large_intestine(1)|lung(1)											34	37	36					5																	177421251		2203	4300	6503	SO:0001819	synonymous_variant	5626			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.198G>A	5.37:g.177421251C>T				Silent	SNP	ENST00000308304.2	37	CCDS4430.1																																																																																				0.662	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		T	177421251	C	T	177421251	2	4	6	1	0	0	0	0	0	0	0	1	12557	755	27	1		1	PROP1	5	177421251	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10		177421251	3494009	28	400											
ZNF354C	30832	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	178506374	178506374	+	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	agcctttagccagtgttcaaCcctcactgtacatcagagaa	12	10	7	12	0	3	1	3	0	0	1	3	2	3	1	3	0	4	2	3	0	4	4			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr5:178506374C>A	ENST00000315475.6	+	5	1247	c.941C>A	c.(940-942)aCc>aAc	p.T314N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAGTGTTCAACCCTCACTGTA	0.428																																						.											0													174	175	175					5																	178506374		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.941C>A	5.37:g.178506374C>A	ENSP00000324064:p.Thr314Asn		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209317	0.39003	.	.	ENSG00000177932	ENST00000315475	T	0.07800	3.16	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08358	0.0208	N	0.02315	-0.6	0.34396	D	0.694743	D	0.63880	0.993	D	0.64776	0.929	T	0.48151	-0.9060	9	0.15499	T	0.54	-13.1132	14.0864	0.64959	0.0:1.0:0.0:0.0	.	314	Q86Y25	Z354C_HUMAN	N	314	ENSP00000324064:T314N	ENSP00000324064:T314N	T	+	2	0	ZNF354C	178438980	0.000000	0.05858	0.999000	0.59377	0.860000	0.49131	-0.003000	0.12901	2.226000	0.72624	0.591000	0.81541	ACC		0.428	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			A	178506374	C	A	178506374	3	1	6	1	0	0	0	0	1	0	0	0	17863	507	18	5	955	5	ZNF354C	5	178506374	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	1085123	178506374	2408886	29	401											
ZNF187	0	broad.mit.edu;mdanderson.org	37	chr6	28240025	28240025	+	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	gcctaaggagctccaggcccGggtgcaggagcatcacccag	9	4	14	14	1	1	0	1	0	0	0	2	2	2	2	4	4	3	3	4	4	1	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:28240025G>A								NKAPL (11289 upstream) : PGBD1 (9288 downstream)																							CTCCAGGCCCGGGTGCAGGAG	0.567																																						.											0													20	20	20					6																	28240025		692	1591	2283	SO:0001628	intergenic_variant	7741																															6.37:g.28240025G>A				Missense_Mutation	SNP		37																																																																																				0	0.567									A	28240025	G	A	28240025	1	1	6	0	1	0	0	0	0	0	0	0	17750	1116	39	1		1	ZNF187	6	28240025	IGR	SNP	G	TCGA-KL-8328-01A-11D-2310-10		28240025	142875042	30	402											
HLA-C	3107	mdanderson.org	37	chr6	31238929	31238929	+	Silent	SNP	C	C	G																															gtgccctccaggtaggctctCagctgctccgccgcacgggc																								rs2308592	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:31238929C>G	ENST00000376228.5	-	3	554	c.540G>C	c.(538-540)ctG>ctC	p.L180L	HLA-C_ENST00000383329.3_Silent_p.L180L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	180	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)			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						GGTAGGCTCTCAGCTGCTCCG	0.692																																						.											0													44	31	36					6																	31238929		2196	4292	6488	SO:0001819	synonymous_variant	3107			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.540G>C	6.37:g.31238929C>G			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	5.596	0.294742	0.10567	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.81	-5.62	0.02481	.	.	.	.	.	T	0.06600	0.0169	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	.	3.9618	0.09413	0.0987:0.4803:0.1638:0.2572	rs41547419	.	.	.	Q	180	.	.	E	-	1	0	HLA-C	31346908	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.653000	0.00856	-1.717000	0.01385	0.305000	0.20034	GAG		0.692	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31238929	C	G	31238929	2	3	6	1	0	0	0	0	0	0	0	1	7197	813	29	5		5	HLA-C	6	31238929	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	2998904	31238929	139876138	31	403	9	2									
HLA-C	3107	mdanderson.org	37	chr6	31238931	31238931	+	Missense_Mutation	SNP	G	G	C																															gccctccaggtaggctctcaGctgctccgccgcacgggccg																								rs697743	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:31238931G>C	ENST00000376228.5	-	3	552	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	HLA-C_ENST00000383329.3_Missense_Mutation_p.L180V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	180	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.L180L(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						TAGGCTCTCAGCTGCTCCGCC	0.682																																						.											2	Substitution - coding silent(2)	prostate(2)											43	30	34					6																	31238931		2197	4291	6488	SO:0001583	missense	3107			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.538C>G	6.37:g.31238931G>C	ENSP00000365402:p.Leu180Val		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.115|0.115	-1.133170|-1.133170	0.01756|0.01756	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00009	.|9.46;9.46	2.81|2.81	-5.62|-5.62	0.02481|0.02481	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|115.764000	.|0.00166	.|U	.|0.000008	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.39514|0.39514	1.22|1.22	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.19331	.|0.035;0.01;0.005;0.01	.|B;B;B;B	.|0.31812	.|0.136;0.056;0.04;0.056	T|T	0.44065|0.44065	-0.9352|-0.9352	5|10	.|0.18710	.|T	.|0.47	.|.	2.8574|2.8574	0.05576|0.05576	0.25:0.4691:0.1066:0.1744|0.25:0.4691:0.1066:0.1744	rs697743;rs2308591;rs3176036;rs3179868;rs3200237;rs3204480;rs12721958;rs17839941;rs28732104|rs697743;rs2308591;rs3176036;rs3179868;rs3200237;rs3204480;rs12721958;rs17839941;rs28732104	.|180;180;180;180	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	G|V	179|180;180;180;217	.|ENSP00000365402:L180V;ENSP00000372819:L180V	.|ENSP00000365402:L180V	A|L	-|-	2|1	0|2	HLA-C|HLA-C	31346910|31346910	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-12.042000|-12.042000	0.00002|0.00002	-4.714000|-4.714000	0.00035|0.00035	-1.872000|-1.872000	0.00552|0.00552	GCT|CTG		0.682	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238931	G	C	31238931	3	2	6	1	0	0	0	0	1	0	0	0	7197	962	34	5	586	5	HLA-C	6	31238931	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	2	31238931	139876136	32	404	9	2									
BCLAF1	9774	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr6	136599231	136599231	+	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	caggactatgctgaatggaaTgtgaatgctgagaaggagta	14	9	14	4	0	0	3	0	3	0	1	0	7	0	6	0	3	2	3	0	3	6	2			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:136599231T>A	ENST00000531224.1	-	4	1040	c.788A>T	c.(787-789)cAt>cTt	p.H263L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.H263L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.H261L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H261L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H261L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H263L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	263					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGAATGGAATGTGAATGCTG	0.443																																					Colon(142;1534 1789 5427 7063 28491)	.											0													130	121	124					6																	136599231		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.788A>T	6.37:g.136599231T>A	ENSP00000435210:p.His263Leu		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.941948	0.53079	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000002	T	0.13500	0.0327	N	0.08118	0	0.80722	D	1	D;D;D;D	0.53462	0.96;0.96;0.96;0.96	D;D;D;D	0.64237	0.923;0.923;0.923;0.923	T	0.31558	-0.9939	10	0.48119	T	0.1	-13.1518	16.182	0.81915	0.0:0.0:0.0:1.0	.	261;261;263;263	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	263;261;263;263;261;261;263	ENSP00000435210:H263L;ENSP00000229446:H261L;ENSP00000435441:H263L;ENSP00000436501:H263L;ENSP00000434826:H261L;ENSP00000376159:H261L;ENSP00000431734:H263L	ENSP00000229446:H261L	H	-	2	0	BCLAF1	136640924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.767000	0.68850	2.222000	0.72286	0.528000	0.53228	CAT		0.443	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		A	136599231	T	A	136599231	3	1	6	1	0	0	0	0	1	0	0	0	1383	1464	51	5	2014	5	BCLAF1	6	136599231	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	105360300	136599231	34515836	33	405											
AKAP12	9590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr6	151673069	151673069	+	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	acccccgtagccgactttgaCgcaccaggcacaacccagaa	12	4	8	17	3	0	2	0	1	0	1	0	3	0	2	5	1	2	3	5	1	3	2	rs573717108		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:151673069C>T	ENST00000253332.1	+	3	3732	c.3543C>T	c.(3541-3543)gaC>gaT	p.D1181D	AKAP12_ENST00000359755.5_Silent_p.D1076D|AKAP12_ENST00000354675.6_Silent_p.D1083D|AKAP12_ENST00000402676.2_Silent_p.D1181D			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1181					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)	p.D1181D(1)		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)		CCGACTTTGACGCACCAGGCA	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		19234	0		0	False		,,,				2504	0				Melanoma(141;1616 1805 10049 24534 51979)	.											1	Substitution - coding silent(1)	large_intestine(1)											110	107	108					6																	151673069		2203	4300	6503	SO:0001819	synonymous_variant	9590			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.3543C>T	6.37:g.151673069C>T			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			T	151673069	C	T	151673069	2	4	6	1	0	0	0	0	0	0	0	1	448	535	19	1		1	AKAP12	6	151673069	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	15073838	151673069	19441998	34	406											
FNDC1	84624	hgsc.bcm.edu;bcgsc.ca	37	chr6	159660825	159660825	+	Missense_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	ccgccgcacgaccaccaggcGtccaacaaccacagtccgaa	12	2	8	19	5	0	0	0	0	0	0	2	2	2	0	7	1	2	1	7	1	3	0	rs547791202	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr6:159660825G>A	ENST00000297267.9	+	14	4657	c.4457G>A	c.(4456-4458)cGt>cAt	p.R1486H	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Missense_Mutation_p.R1423H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1486	Thr-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)		accaccaggcgtccaacaacc	0.677													G|||	2	0.000399361	0	0	5008	,	,		11191	0		0	False		,,,				2504	0.002					.											0													68	96	86					6																	159660825		1826	3640	5466	SO:0001583	missense	84624			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.4457G>A	6.37:g.159660825G>A	ENSP00000297267:p.Arg1486His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	6.865	0.529009	0.13127	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08193	3.12;3.94	4.3	1.13	0.20643	.	0.377447	0.21663	N	0.070996	T	0.01254	0.0041	N	0.14661	0.345	0.09310	N	1	B;B	0.25521	0.128;0.029	B;B	0.14578	0.011;0.005	T	0.45848	-0.9233	10	0.46703	T	0.11	-4.7996	4.7665	0.13135	0.2001:0.3385:0.4614:0.0	.	1423;1486	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	1486;1423	ENSP00000297267:R1486H;ENSP00000342460:R1423H	ENSP00000297267:R1486H	R	+	2	0	FNDC1	159580815	1.000000	0.71417	0.011000	0.14972	0.021000	0.10359	1.459000	0.35234	0.506000	0.28125	0.655000	0.94253	CGT		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159660825	G	A	159660825	3	1	6	1	0	0	0	0	1	0	0	0	5968	1145	40	1	4511	1	FNDC1	6	159660825	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	7987756	159660825	11454242	35	407											
MLXIPL	51085	hgsc.bcm.edu;ucsc.edu	37	chr7	73020310	73020310	+	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	aagagagtgtctgagatgtcGgacaaaaagcaattgaggtc	15	8	13	5	1	1	3	0	2	1	2	3	6	1	4	0	2	1	1	0	2	4	1	rs578022743		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr7:73020310G>A	ENST00000313375.3	-	6	797	c.750C>T	c.(748-750)tcC>tcT	p.S250S	MLXIPL_ENST00000354613.1_Silent_p.S250S|MLXIPL_ENST00000429400.2_Silent_p.S250S|MLXIPL_ENST00000414749.2_Silent_p.S250S|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000434326.1_Intron	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	250					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|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 cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGAGATGTCGGACAAAAAGC	0.627													G|||	1	0.000199681	0	0	5008	,	,		17309	0.001		0	False		,,,				2504	0					.											0													38	37	37					7																	73020310		2203	4300	6503	SO:0001819	synonymous_variant	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.750C>T	7.37:g.73020310G>A			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	CCDS5553.1																																																																																				0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		A	73020310	G	A	73020310	2	1	6	1	0	0	0	0	0	0	0	1	9637	1103	39	1		1	MLXIPL	7	73020310	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10		73020310	86118353	36	408											
NPTX2	4885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	98254299	98254299	+	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	cactccgcacaaactacctaTacggcaagatcaagaagacg	16	5	7	13	3	1	3	1	0	0	3	2	3	2	3	2	1	3	2	2	1	7	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr7:98254299T>G	ENST00000265634.3	+	3	874	c.709T>G	c.(709-711)Tac>Gac	p.Y237D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AAACTACCTATACGGCAAGAT	0.587																																						.											0													223	178	193					7																	98254299		2203	4300	6503	SO:0001583	missense	4885				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.709T>G	7.37:g.98254299T>G	ENSP00000265634:p.Tyr237Asp		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514425	0.64522	.	.	ENSG00000106236	ENST00000265634	T	0.05925	3.37	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.053697	0.85682	D	0.000000	T	0.36220	0.0959	H	0.95151	3.63	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.53229	-0.8468	10	0.87932	D	0	-18.2805	14.9047	0.70709	0.0:0.0:0.0:1.0	.	237	P47972	NPTX2_HUMAN	D	237	ENSP00000265634:Y237D	ENSP00000265634:Y237D	Y	+	1	0	NPTX2	98092235	1.000000	0.71417	0.916000	0.36221	0.244000	0.25665	7.997000	0.88414	2.116000	0.64780	0.459000	0.35465	TAC		0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		G	98254299	T	G	98254299	3	3	6	1	0	0	0	0	1	0	0	0	10603	1406	49	5	719	5	NPTX2	7	98254299	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	25233989	98254299	60884364	37	409											
CNTNAP2	26047	hgsc.bcm.edu;ucsc.edu	37	chr7	146829390	146829390	+	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	acggtgcctgtctttttcaaCgctacaagttacctggaggt	8	13	10	10	2	2	0	1	0	1	0	2	1	2	1	2	3	4	2	2	3	4	4	rs78543192	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr7:146829390C>T	ENST00000361727.3	+	8	1653	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	379					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)			TCTTTTTCAACGCTACAAGTT	0.458										HNSCC(39;0.1)			T|||	30	0.00599042	0.0219	0.0014	5008	,	,		20040	0		0	False		,,,				2504	0					.											0								T		66,4340	820.5+/-416.4	0,66,2137	126	121	122		1137	3.3	1	7	dbSNP_132	122	0,8600		0,0,4300	no	coding-synonymous	CNTNAP2	NM_014141.5		0,66,6437	TT,TC,CC		0.0,1.498,0.5075		379/1332	146829390	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	26047			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.1137C>T	7.37:g.146829390C>T			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	146829390	C	T	146829390	2	4	6	1	0	0	0	0	0	0	0	1	3647	535	19	1		1	CNTNAP2	7	146829390	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	48575091	146829390	12309273	38	410											
CHPF2	54480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	150932432	150932432	+	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	tgcaggatgacacatatgtgCaggccccccgcctggcagcc	8	6	12	15	1	0	1	0	1	0	0	0	2	0	2	5	3	3	3	5	3	1	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr7:150932432C>T	ENST00000035307.2	+	2	2075	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CHPF2_ENST00000495645.1_Nonsense_Mutation_p.Q180*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	188					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						CACATATGTGCAGGCCCCCCG	0.627																																						.											0													92	94	93					7																	150932432		2203	4300	6503	SO:0001587	stop_gained	54480			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.562C>T	7.37:g.150932432C>T	ENSP00000035307:p.Gln188*		B2DBD8|Q6P2I4|Q6UXD2	Nonsense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	38	7.243506	0.98161	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	.	.	.	5.43	5.43	0.79202	.	0.155451	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.4784	13.2489	0.60039	0.1585:0.8415:0.0:0.0	.	.	.	.	X	180;188;188	.	.	Q	+	1	0	CHPF2	150563365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.180000	0.50895	2.547000	0.85894	0.591000	0.81541	CAG		0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		T	150932432	C	T	150932432	4	4	6	1	0	0	0	0	0	1	0	0	3369	711	25	4	568	4	CHPF2	7	150932432	Nonsense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	4103042	150932432	8206231	39	411											
MTBP	27085	ucsc.edu;bcgsc.ca	37	chr8	121467780	121467780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacatttgagagaatggtAttcagcaaagatcactatag	18	10	8	5	0	2	3	2	1	0	2	2	4	2	3	0	1	2	2	0	1	7	5			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr8:121467780A>G	ENST00000305949.1	+	6	635	c.590A>G	c.(589-591)tAt>tGt	p.Y197C		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	197					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGAGAATGGTATTCAGCAAAG	0.328																																						.											0													148	148	148					8																	121467780		2203	4296	6499	SO:0001583	missense	27085				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.590A>G	8.37:g.121467780A>G	ENSP00000303398:p.Tyr197Cys		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767765	0.69878	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.58	5.58	0.84498	.	0.111345	0.64402	D	0.000014	T	0.60431	0.2268	L	0.51422	1.61	0.33018	D	0.528502	D	0.60575	0.988	P	0.53360	0.724	T	0.73228	-0.4049	9	0.87932	D	0	-6.7991	15.7325	0.77817	1.0:0.0:0.0:0.0	.	197	Q96DY7	MTBP_HUMAN	C	197	.	ENSP00000303398:Y197C	Y	+	2	0	MTBP	121536961	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.919000	0.75793	2.128000	0.65567	0.391000	0.25812	TAT		0.328	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		G	121467780	A	G	121467780	3	3	6	1	0	0	0	0	1	0	0	0	9912	449	16	4	612	4	MTBP	8	121467780	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		121467780	24896242	40	412											
SMARCA2	6595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	2056812	2056812	+	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	ctggagaagcagcagaagatTgagcaggagaggaaacgccg	15	3	16	7	2	0	5	0	1	0	4	0	8	0	6	1	3	4	3	1	3	3	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr9:2056812T>A	ENST00000382203.1	+	7	1523	c.1314T>A	c.(1312-1314)atT>atA	p.I438I	SMARCA2_ENST00000357248.2_Silent_p.I438I|SMARCA2_ENST00000349721.2_Silent_p.I438I|SMARCA2_ENST00000382194.1_Silent_p.I438I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	438	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				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)		AGCAGAAGATTGAGCAGGAGA	0.532																																						.											0													83	77	79					9																	2056812		2203	4300	6503	SO:0001819	synonymous_variant	6595			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.1314T>A	9.37:g.2056812T>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.532	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2056812	T	A	2056812	2	1	6	1	0	0	0	0	0	0	0	1	14769	1800	63	5		5	SMARCA2	9	2056812	Silent	SNP	T	TCGA-KL-8328-01A-11D-2310-10		2056812	139156619	41	413											
OR13C2	392376	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	107367649	107367649	+	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	gggaaatggtctttctttctGaaaggaagctcactagcgtg	10	12	12	7	1	4	1	1	1	3	0	4	3	4	3	0	3	2	1	0	3	4	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr9:107367649G>C	ENST00000542196.1	-	1	302	c.260C>G	c.(259-261)tCa>tGa	p.S87*		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTTTCTTTCTGAAAGGAAGCT	0.517																																						.											0													49	52	51					9																	107367649		2195	4295	6490	SO:0001587	stop_gained	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.260C>G	9.37:g.107367649G>C	ENSP00000438815:p.Ser87*		B9EGV8|Q6IF54	Nonsense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547621	0.27652	.	.	ENSG00000257019	ENST00000542196	.	.	.	3.39	3.39	0.38822	.	0.000000	0.32055	U	0.006658	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.3016	0.54878	0.0:0.0:1.0:0.0	.	.	.	.	X	87	.	ENSP00000438815:S87X	S	-	2	0	OR13C2	106407470	0.000000	0.05858	0.011000	0.14972	0.201000	0.24016	0.721000	0.25911	1.723000	0.51488	0.462000	0.41574	TCA		0.517	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		C	107367649	G	C	107367649	4	2	6	1	0	0	0	0	0	1	0	0	10934	1294	45	5	699	5	OR13C2	9	107367649	Nonsense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	105310837	107367649	33845782	42	414											
MUSK	4593	broad.mit.edu;mdanderson.org	37	chr9	113563201	113563201	+	Missense_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	gctgcctgcagacagacccaGtttcaccagtattcaccgaa	11	8	8	14	1	2	2	2	0	0	2	2	3	2	2	4	0	2	4	4	0	2	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr9:113563201G>A	ENST00000374448.4	+	15	2677	c.2543G>A	c.(2542-2544)aGt>aAt	p.S848N	MUSK_ENST00000416899.2_Missense_Mutation_p.S840N|MUSK_ENST00000189978.5_Missense_Mutation_p.S848N	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	848	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GACAGACCCAGTTTCACCAGT	0.507																																						.											0													41	39	40					9																	113563201		2021	4185	6206	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2543G>A	9.37:g.113563201G>A	ENSP00000363571:p.Ser848Asn		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323273	0.60634	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.53857	0.6	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.125544	0.64402	D	0.000001	T	0.58323	0.2114	L	0.41492	1.28	0.80722	D	1	P	0.34743	0.466	P	0.46339	0.513	T	0.55939	-0.8061	10	0.48119	T	0.1	.	19.0078	0.92859	0.0:0.0:1.0:0.0	.	848	O15146	MUSK_HUMAN	N	854;848;848;762;762;846	ENSP00000363571:S848N	ENSP00000189978:S854N	S	+	2	0	MUSK	112603022	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	9.813000	0.99286	2.809000	0.96659	0.557000	0.71058	AGT		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113563201	G	A	113563201	3	1	6	1	0	0	0	0	1	0	0	0	9989	1029	36	4	2633	4	MUSK	9	113563201	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	6195552	113563201	27650230	43	415											
PI4K2A	55361	broad.mit.edu	37	chr10	99400542	99400542	+	Frame_Shift_Del	DEL	C	C	-																															tgtcccccgagcgggcccaaCccccggactacaccttcccg																										TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr10:99400542delC	ENST00000370631.3	+	1	100	c.43delC	c.(43-45)cccfs	p.P16fs	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	16					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)		GCGGGCCCAACCCCCGGACTA	0.766																																						.											0													11	13	12					10																	99400542		2163	4274	6437	SO:0001589	frameshift_variant	55361			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.43delC	10.37:g.99400542delC	ENSP00000359665:p.Pro16fs		D3DR59|Q9NSG8	Frame_Shift_Del	DEL	ENST00000370631.3	37	CCDS7469.1																																																																																				0.766	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		-	99400542	C	-	99400542	7	5	6	1	0	1	0	1	0	0	0	0	11871	507	18	0	45	0	PI4K2A	10	99400542	Frame_Shift_Del	DEL	C	TCGA-KL-8328-01A-11D-2310-10		99400542	36134205	44	416											
C10orf120	399814	hgsc.bcm.edu;bcgsc.ca	37	chr10	124457697	124457697	+	Missense_Mutation	SNP	T	T	G																															atgaggagcgtgtaaaccttTcaatgtagggtaaaggctga																										TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr10:124457697T>G	ENST00000329446.4	-	3	591	c.560A>C	c.(559-561)gAa>gCa	p.E187A		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	187										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)				TGTAAACCTTTCAATGTAGGG	0.473																																						.											0													137	122	127					10																	124457697		2203	4300	6503	SO:0001583	missense	399814				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.560A>C	10.37:g.124457697T>G	ENSP00000331012:p.Glu187Ala		B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.680512	0.29872	.	.	ENSG00000183559	ENST00000329446	T	0.31510	1.49	4.57	0.639	0.17747	.	0.393246	0.21776	N	0.069282	T	0.23532	0.0569	L	0.43152	1.355	0.09310	N	1	P	0.34639	0.461	B	0.39562	0.303	T	0.12016	-1.0564	10	0.40728	T	0.16	-12.4131	4.0837	0.09937	0.0:0.1945:0.1776:0.6279	.	187	Q5SQS8	CJ120_HUMAN	A	187	ENSP00000331012:E187A	ENSP00000331012:E187A	E	-	2	0	C10orf120	124447687	0.011000	0.17503	0.003000	0.11579	0.008000	0.06430	0.943000	0.29030	0.003000	0.14656	0.491000	0.48974	GAA		0.473	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		G	124457697	T	G	124457697	3	3	6	1	0	0	0	0	1	0	0	0	1590	1783	62	5	451	5	C10orf120	10	124457697	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	25057155	124457697	11077050	45	417	10	2									
C10orf120	399814	broad.mit.edu;bcgsc.ca	37	chr10	124457698	124457698	+	Nonsense_Mutation	SNP	C	C	A																															tgaggagcgtgtaaacctttCaatgtagggtaaaggctgat																										TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr10:124457698C>A	ENST00000329446.4	-	3	590	c.559G>T	c.(559-561)Gaa>Taa	p.E187*		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	187										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)				GTAAACCTTTCAATGTAGGGT	0.473																																						.											0													137	122	127					10																	124457698		2203	4300	6503	SO:0001587	stop_gained	399814				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.559G>T	10.37:g.124457698C>A	ENSP00000331012:p.Glu187*		B2RU17	Nonsense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256243	0.59321	.	.	ENSG00000183559	ENST00000329446	.	.	.	4.57	4.57	0.56435	.	0.393246	0.21776	N	0.069282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.4131	13.0518	0.58958	0.0:1.0:0.0:0.0	.	.	.	.	X	187	.	ENSP00000331012:E187X	E	-	1	0	C10orf120	124447688	0.008000	0.16893	0.007000	0.13788	0.007000	0.05969	0.897000	0.28390	2.507000	0.84556	0.603000	0.83216	GAA		0.473	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		A	124457698	C	A	124457698	4	1	6	1	0	0	0	0	0	1	0	0	1590	835	29	5	452	5	C10orf120	10	124457698	Nonsense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	1	124457698	11077049	46	418	10	2									
AMBRA1	55626	ucsc.edu;bcgsc.ca	37	chr11	46515749	46515749	+	Missense_Mutation	SNP	T	T	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	ggtgcctggatctgtcaccaTtgtccctgaaaaaaataaaa	14	10	8	9	0	2	1	1	1	1	0	3	2	3	2	3	2	1	0	3	2	5	2	rs147544015	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr11:46515749T>C	ENST00000458649.2	-	10	2763	c.2345A>G	c.(2344-2346)aAt>aGt	p.N782S	AMBRA1_ENST00000533727.1_Missense_Mutation_p.N663S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.N722S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.N722S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.N692S|AMBRA1_ENST00000528950.1_Missense_Mutation_p.N753S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.N753S|AMBRA1_ENST00000529963.1_5'UTR			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	782					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)		TCTGTCACCATTGTCCCTGAA	0.468													T|||	3	0.000599042	0	0.0043	5008	,	,		18258	0		0	False		,,,				2504	0					.											0								T	SER/ASN	0,4402		0,0,2201	49	43	45		2075	2.4	1	11	dbSNP_134	45	1,8597	1.2+/-3.3	0,1,4298	yes	missense	AMBRA1	NM_017749.2	46	0,1,6499	CC,CT,TT		0.0116,0.0,0.0077	benign	692/1209	46515749	1,12999	2201	4299	6500	SO:0001583	missense	55626			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.2345A>G	11.37:g.46515749T>C	ENSP00000415327:p.Asn782Ser		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	16.46	3.130274	0.56721	0.0	1.16E-4	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	4.78	2.43	0.29744	.	0.178269	0.64402	N	0.000016	T	0.75547	0.3864	L	0.27053	0.805	0.27935	N	0.937725	P;B;B;B;B;B	0.48764	0.915;0.002;0.002;0.002;0.003;0.0	B;B;B;B;B;B	0.39465	0.3;0.002;0.002;0.002;0.004;0.002	T	0.70626	-0.4820	10	0.27082	T	0.32	.	8.2757	0.31871	0.0:0.1603:0.0:0.8397	.	782;753;722;663;785;692	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	S	692;663;722;753;722;782;753	ENSP00000318313:N692S;ENSP00000433372:N663S;ENSP00000431926:N722S;ENSP00000410899:N753S;ENSP00000298834:N722S;ENSP00000415327:N782S;ENSP00000433945:N753S	ENSP00000298834:N722S	N	-	2	0	AMBRA1	46472325	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.842000	0.39250	0.396000	0.25283	0.529000	0.55759	AAT		0.468	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		C	46515749	T	C	46515749	3	2	6	1	0	0	0	0	1	0	0	0	565	1493	52	4	1587	4	AMBRA1	11	46515749	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10		46515749	88490767	47	419											
RPS6KA4	8986	mdanderson.org	37	chr11	64127744	64127744	+	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	gtgcagcgcgccaagacgcaAgagcacacgcgcaccgagcg	11	1	14	15	7	0	2	0	0	0	2	0	3	0	2	2	0	4	4	2	0	2	0	rs521950	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr11:64127744A>G	ENST00000334205.4	+	3	302	c.237A>G	c.(235-237)caA>caG	p.Q79Q	RPS6KA4_ENST00000294261.4_Silent_p.Q79Q|RPS6KA4_ENST00000528057.1_Silent_p.Q79Q	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	79	Protein kinase 1. {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						CCAAGACGCAAGAGCACACGC	0.687													G|||	1350	0.269569	0.0499	0.4078	5008	,	,		15083	0.2083		0.4324	False		,,,				2504	0.364					.											0								G	,	434,3564		35,364,1600	12	10	10		237,237	3.1	1	11	dbSNP_83	10	2989,4947		559,1871,1538	no	coding-synonymous,coding-synonymous	RPS6KA4	NM_001006944.1,NM_003942.2	,	594,2235,3138	GG,GA,AA		37.6638,10.8554,28.6828	,	79/767,79/773	64127744	3423,8511	1999	3968	5967	SO:0001819	synonymous_variant	8986			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.237A>G	11.37:g.64127744A>G			A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	CCDS8073.1																																																																																				0.687	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		G	64127744	A	G	64127744	2	3	6	1	0	0	0	0	0	0	0	1	13653	69	3	2		2	RPS6KA4	11	64127744	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10	17611995	64127744	70878772	48	420											
RAB1B	81876	ucsc.edu	37	chr11	66043329	66043329	+	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	agattgaccgctatgccagcGagaacgtcaataagctcctg	12	8	10	11	3	1	3	1	1	0	2	2	4	2	3	3	0	4	2	3	0	4	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr11:66043329G>A	ENST00000311481.6	+	5	481	c.334G>A	c.(334-336)Gag>Aag	p.E112K	RAB1B_ENST00000527397.1_Missense_Mutation_p.E80K|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	112					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CTATGCCAGCGAGAACGTCAA	0.577																																						.											0													32	31	31					11																	66043329		2199	4291	6490	SO:0001583	missense	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"RAB, member RAS oncogene"	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.334G>A	11.37:g.66043329G>A	ENSP00000310226:p.Glu112Lys		A8K7S1	Missense_Mutation	SNP	ENST00000311481.6	37	CCDS31613.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273458	0.59649	.	.	ENSG00000174903	ENST00000311481;ENST00000527397;ENST00000394080	T;T	0.76839	-1.05;-1.05	4.53	4.53	0.55603	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	N	0.12637	0.245	0.80722	D	1	B	0.23891	0.093	B	0.18561	0.022	T	0.64305	-0.6439	10	0.72032	D	0.01	.	14.731	0.69383	0.0:0.0:1.0:0.0	.	112	Q9H0U4	RAB1B_HUMAN	K	112;80;112	ENSP00000310226:E112K;ENSP00000435195:E80K	ENSP00000310226:E112K	E	+	1	0	RAB1B	65799905	1.000000	0.71417	0.997000	0.53966	0.380000	0.30137	9.678000	0.98647	2.068000	0.61886	0.313000	0.20887	GAG		0.577	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		A	66043329	G	A	66043329	3	1	6	1	0	0	0	0	1	0	0	0	12906	1059	37	1	352	1	RAB1B	11	66043329	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	1915585	66043329	68963187	49	421											
DSCAML1	57453	broad.mit.edu	37	chr11	117392079	117392079	+	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	gatgaccgtgctgccaatgcCggtcttcagcttctttggtg	5	13	12	11	2	3	1	1	1	2	0	3	2	3	1	3	2	4	2	3	2	1	3	rs373292920		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr11:117392079C>T	ENST00000321322.6	-	6	1160	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G117S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	327	Ig-like C2-type 4.				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)		CTGCCAATGCCGGTCTTCAGC	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		17278	0		0	False		,,,				2504	0					.											0								C	SER/GLY	0,4402		0,0,2201	41	38	39		1159	4.5	1	11		39	4,8588	3.7+/-12.6	0,4,4292	no	missense	DSCAML1	NM_020693.2	56	0,4,6493	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging	387/2114	117392079	4,12990	2201	4296	6497	SO:0001583	missense	57453				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.1159G>A	11.37:g.117392079C>T	ENSP00000315465:p.Gly387Ser		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622344	0.28889	0.0	4.66E-4	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.63744	-0.06;-0.06	4.5	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36441	0.0967	N	0.01576	-0.805	0.58432	D	0.999999	P;P	0.48089	0.607;0.905	B;B	0.43386	0.217;0.418	T	0.42258	-0.9462	9	0.11182	T	0.66	.	17.3845	0.87413	0.0:1.0:0.0:0.0	.	117;327	G3V1B5;Q8TD84	.;DSCL1_HUMAN	S	117;387;94	ENSP00000434335:G117S;ENSP00000315465:G387S	ENSP00000315465:G387S	G	-	1	0	DSCAML1	116897289	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.734000	0.62043	2.333000	0.79357	0.609000	0.83330	GGC		0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117392079	C	T	117392079	3	4	6	1	0	0	0	0	1	0	0	0	4769	652	23	1	5294	1	DSCAML1	11	117392079	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	51348750	117392079	17614437	50	422											
CHD4	1108	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	6701640	6701640	+	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	acacatcggctttgagccgcCgcaacatgtgcggccccagc	8	6	11	16	4	0	1	0	1	0	0	1	1	0	1	4	2	4	2	4	2	1	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:6701640C>A	ENST00000357008.2	-	19	3030	c.2867G>T	c.(2866-2868)cGg>cTg	p.R956L	CHD4_ENST00000544040.1_Missense_Mutation_p.R949L|CHD4_ENST00000544484.1_Missense_Mutation_p.R953L|CHD4_ENST00000309577.6_Missense_Mutation_p.R956L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	956					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						TTTGAGCCGCCGCAACATGTG	0.498																																					Colon(32;586 792 4568 16848 45314)	.											0													89	89	89					12																	6701640		2203	4300	6503	SO:0001583	missense	1108			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.2867G>T	12.37:g.6701640C>A	ENSP00000349508:p.Arg956Leu		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918904	0.92249	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.4	5.4	0.78164	SNF2-related (1);	0.056531	0.64402	D	0.000002	D	0.99077	0.9683	H	0.98769	4.325	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.932	D;D;P	0.97110	0.996;1.0;0.675	D	0.99047	1.0826	10	0.87932	D	0	.	19.1812	0.93623	0.0:1.0:0.0:0.0	.	956;956;949	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	953;949;956;956;930	ENSP00000440392:R953L;ENSP00000440542:R949L;ENSP00000312419:R956L;ENSP00000349508:R956L	ENSP00000312419:R956L	R	-	2	0	CHD4	6571901	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.792000	0.85828	2.530000	0.85305	0.563000	0.77884	CGG		0.498	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6701640	C	A	6701640	3	1	6	1	0	0	0	0	1	0	0	0	3327	652	23	5	2959	5	CHD4	12	6701640	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10		6701640	127150255	51	423											
DUSP16	80824	broad.mit.edu	37	chr12	12630273	12630273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtggagataaaagggAcctctgggcggtgccactgc	10	7	15	9	1	1	1	0	0	1	1	1	3	1	2	2	4	3	1	2	4	2	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:12630273A>G	ENST00000228862.2	-	7	2123	c.1492T>C	c.(1492-1494)Tcc>Ccc	p.S498P	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	498					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)			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)		GATAAAAGGGACCTCTGGGCG	0.582																																					Ovarian(158;443 1896 15437 36069 46477)	.											0													71	71	71					12																	12630273		2203	4300	6503	SO:0001583	missense	80824			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.1492T>C	12.37:g.12630273A>G	ENSP00000228862:p.Ser498Pro		Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	A	2.707	-0.269691	0.05716	.	.	ENSG00000111266	ENST00000228862	T	0.02015	4.5	5.27	-9.11	0.00711	.	1.150150	0.06307	N	0.702034	T	0.01061	0.0035	N	0.03324	-0.35	0.43902	D	0.996538	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49390	-0.8945	10	0.20046	T	0.44	.	10.3793	0.44101	0.2491:0.4277:0.3233:0.0	.	498;498	Q9BY84;Q96N49	DUS16_HUMAN;.	P	498	ENSP00000228862:S498P	ENSP00000228862:S498P	S	-	1	0	DUSP16	12521540	0.000000	0.05858	0.004000	0.12327	0.035000	0.12851	-2.226000	0.01211	-1.560000	0.01686	-0.250000	0.11733	TCC		0.582	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		G	12630273	A	G	12630273	3	3	6	1	0	0	0	0	1	0	0	0	4816	275	10	2	509	2	DUSP16	12	12630273	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	5928633	12630273	121221622	52	424											
ANO6	196527	mdanderson.org	37	chr12	45725162	45725162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctagtatatgaggatgaaAgcagaaaagagaccaataaa	20	8	9	4	0	1	4	0	2	1	2	1	6	1	5	1	1	1	2	1	1	9	5			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:45725162A>G	ENST00000320560.8	+	3	437	c.235A>G	c.(235-237)Agc>Ggc	p.S79G	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.S79G|ANO6_ENST00000441606.2_Missense_Mutation_p.S61G|ANO6_ENST00000435642.1_Missense_Mutation_p.S79G|ANO6_ENST00000423947.3_Missense_Mutation_p.S100G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	79					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGAGGATGAAAGCAGAAAAGA	0.303																																						.											0													76	80	78					12																	45725162		2203	4299	6502	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.235A>G	12.37:g.45725162A>G	ENSP00000320087:p.Ser79Gly		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.352937	0.24512	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.17	1.24	0.21308	.	0.364642	0.32416	N	0.006135	T	0.51702	0.1690	L	0.50333	1.59	0.31878	N	0.618855	B;B;B;B	0.26672	0.004;0.01;0.156;0.008	B;B;B;B	0.17098	0.017;0.017;0.016;0.005	T	0.49679	-0.8914	10	0.22706	T	0.39	.	7.1651	0.25685	0.6484:0.2749:0.0767:0.0	.	61;100;79;79	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	G	79;100;79;79;61	ENSP00000391417:S79G;ENSP00000409126:S100G;ENSP00000413840:S79G;ENSP00000320087:S79G;ENSP00000413137:S61G	ENSP00000320087:S79G	S	+	1	0	ANO6	44011429	0.998000	0.40836	0.935000	0.37517	0.905000	0.53344	2.285000	0.43487	0.483000	0.27608	0.482000	0.46254	AGC		0.303	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		G	45725162	A	G	45725162	3	3	6	1	0	0	0	0	1	0	0	0	701	72	3	2	265	2	ANO6	12	45725162	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	33094889	45725162	88126733	53	425											
GALNT6	11226	broad.mit.edu	37	chr12	51752937	51752937	+	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	tcttgggccatctttgctgcCtgcagatttctcctatagaa	7	15	8	11	0	3	2	0	0	3	2	4	2	3	2	3	1	3	2	3	1	3	5			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:51752937C>G	ENST00000543196.2	-	7	1552	c.1347G>C	c.(1345-1347)caG>caC	p.Q449H	GALNT6_ENST00000356317.3_Missense_Mutation_p.Q449H			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	449					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTTTGCTGCCTGCAGATTTC	0.522																																						.											0													179	199	192					12																	51752937		2203	4300	6503	SO:0001583	missense	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1347G>C	12.37:g.51752937C>G	ENSP00000444171:p.Gln449His		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739970	0.30865	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.59083	0.29;0.29	4.26	-0.848	0.10727	.	0.836851	0.10439	N	0.674486	T	0.43765	0.1262	N	0.25825	0.765	0.38323	D	0.943575	B	0.32543	0.375	B	0.40534	0.332	T	0.35400	-0.9790	10	0.31617	T	0.26	.	5.315	0.15850	0.131:0.4741:0.0:0.395	.	449	Q8NCL4	GALT6_HUMAN	H	449;449;430	ENSP00000444171:Q449H;ENSP00000348668:Q449H	ENSP00000348668:Q449H	Q	-	3	2	GALNT6	50039204	0.001000	0.12720	0.665000	0.29768	0.965000	0.64279	-1.549000	0.02182	-0.156000	0.11079	-0.258000	0.10820	CAG		0.522	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		G	51752937	C	G	51752937	3	3	6	1	0	0	0	0	1	0	0	0	6217	680	24	5	541	5	GALNT6	12	51752937	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	6027775	51752937	82098958	54	426											
E2F7	144455	broad.mit.edu	37	chr12	77419489	77419490	+	Frame_Shift_Del	DEL	TT	TT	-																															cagaagggagtgtggacgacTttggattaaccacagctgtg																										TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:77419489_77419490delTT	ENST00000322886.7	-	12	2648_2649	c.2413_2414delAA	c.(2413-2415)aagfs	p.K805fs	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	805					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						TGTGGACGACTTTGGATTAACC	0.53																																						.											0																																										SO:0001589	frameshift_variant	144455			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.2413_2414delAA	12.37:g.77419489_77419490delTT	ENSP00000323246:p.Lys805fs		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	ENST00000322886.7	37	CCDS9016.1																																																																																				0.53	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		-	77419490	TT	-	77419489	7	5	6	1	0	1	0	1	0	0	0	0	4872	1609	56	0	329	0	E2F7	12	77419489	Frame_Shift_Del	DEL	TT	TCGA-KL-8328-01A-11D-2310-10	25666552	77419489	56432406	55	427											
IKBIP	121457	mdanderson.org	37	chr12	99020139	99020139	+	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	taacttttcaattgcctttgTatcagagcctagctgctcct	8	16	6	11	0	2	1	2	0	0	1	3	1	3	1	3	0	5	3	3	0	4	7			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr12:99020139T>C	ENST00000342502.2	-	2	709				IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.T235A	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATTGCCTTTGTATCAGAGCCT	0.398																																						.											0													141	135	137					12																	99020139		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7934A>G	12.37:g.99020139T>C			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.362014	0.24684	.	.	ENSG00000166130	ENST00000299157	T	0.49432	0.78	5.59	0.294	0.15747	.	0.465264	0.24143	N	0.041153	T	0.26810	0.0656	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.04593	-1.0940	9	0.19590	T	0.45	-3.0795	5.3045	0.15795	0.128:0.3427:0.0:0.5293	.	235	Q70UQ0-4	.	A	235	ENSP00000299157:T235A	ENSP00000299157:T235A	T	-	1	0	IKBIP	97544270	0.968000	0.33430	0.788000	0.31933	0.518000	0.34316	0.767000	0.26575	0.086000	0.17137	0.528000	0.53228	ACA		0.398	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		C	99020139	T	C	99020139	1	2	6	0	1	0	0	0	0	0	0	0	7609	1638	57	2		2	IKBIP	12	99020139	Intron	SNP	T	TCGA-KL-8328-01A-11D-2310-10	21600650	99020139	34831756	56	428											
FREM2	341640	broad.mit.edu	37	chr13	39446906	39446906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctagtgcagtcctatgtgAcccttcgagtccctctgtat	7	13	8	13	1	1	1	0	1	1	0	4	2	3	1	4	0	1	2	4	0	3	4			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr13:39446906A>G	ENST00000280481.7	+	17	8227	c.8011A>G	c.(8011-8013)Acc>Gcc	p.T2671A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2671					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)		GTCCTATGTGACCCTTCGAGT	0.443																																						.											0													165	154	158					13																	39446906		2203	4300	6503	SO:0001583	missense	341640			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.8011A>G	13.37:g.39446906A>G	ENSP00000280481:p.Thr2671Ala		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802831	0.90623	.	.	ENSG00000150893	ENST00000280481	T	0.28895	1.59	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.83012	2.62	0.80722	D	1	P	0.45212	0.853	B	0.43052	0.406	T	0.54084	-0.8346	10	0.87932	D	0	.	16.1146	0.81295	1.0:0.0:0.0:0.0	.	2671	Q5SZK8	FREM2_HUMAN	A	2671	ENSP00000280481:T2671A	ENSP00000280481:T2671A	T	+	1	0	FREM2	38344906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.309000	0.96252	2.200000	0.70718	0.460000	0.39030	ACC		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39446906	A	G	39446906	3	3	6	1	0	0	0	0	1	0	0	0	6045	275	10	2	8077	2	FREM2	13	39446906	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		39446906	75722972	57	429											
POTEG	404785	mdanderson.org	37	chr14	19553653	19553653	+	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	agggggagcagcaagagcaaCgtgggcacttctggagacca	12	4	16	9	1	1	2	0	0	1	2	1	4	1	3	1	4	4	4	1	4	2	1	rs201360940		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:19553653C>T	ENST00000409832.3	+	1	289	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	79										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAAGAGCAACGTGGGCACTT	0.602																																						.											0													100	129	119					14																	19553653		1939	3935	5874	SO:0001819	synonymous_variant	404785				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.237C>T	14.37:g.19553653C>T			A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	CCDS32018.1																																																																																				0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		T	19553653	C	T	19553653	2	4	6	1	0	0	0	0	0	0	0	1	12266	535	19	1		1	POTEG	14	19553653	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10		19553653	87795887	58	430											
PNP	4860	broad.mit.edu;bcgsc.ca	37	chr14	20944680	20944680	+	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	atgaagaagtcttagcagctGgcaaacaagctgcacagaaa	17	6	10	8	0	1	3	0	1	1	2	1	3	1	3	0	1	5	5	0	1	6	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:20944680G>A	ENST00000361505.5	+	6	936	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CTTAGCAGCTGGCAAACAAGC	0.483																																						.											0													106	97	100					14																	20944680		2203	4300	6503	SO:0001583	missense	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.790G>A	14.37:g.20944680G>A	ENSP00000354532:p.Gly264Ser			Missense_Mutation	SNP	ENST00000361505.5	37	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	G	8.277	0.814701	0.16607	.	.	ENSG00000198805	ENST00000361505	D	0.93189	-3.18	4.88	3.99	0.46301	Nucleoside phosphorylase domain (1);	0.212230	0.48767	D	0.000161	D	0.88306	0.6401	L	0.42632	1.34	0.49915	D	0.999834	B	0.02656	0.0	B	0.11329	0.006	T	0.81837	-0.0749	10	0.18710	T	0.47	-14.0071	9.415	0.38517	0.1721:0.0:0.8279:0.0	.	264	P00491	PNPH_HUMAN	S	264	ENSP00000354532:G264S	ENSP00000354532:G264S	G	+	1	0	PNP	20014520	1.000000	0.71417	0.593000	0.28771	0.128000	0.20619	3.182000	0.50910	1.281000	0.44480	-0.137000	0.14449	GGC		0.483	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		A	20944680	G	A	20944680	3	1	6	1	0	0	0	0	1	0	0	0	12163	1348	47	4	812	4	PNP	14	20944680	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	1391027	20944680	86404860	59	431											
ISM2	145501	mdanderson.org	37	chr14	77942316	77942316	+	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	aagctgcggccctggtgctcGtcctgtaggctcacagggct	5	9	14	13	2	1	0	1	0	0	0	3	0	2	0	2	4	3	5	2	4	2	1	rs3742732	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:77942316G>A	ENST00000342219.4	-	7	1394	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	ISM2_ENST00000429906.1_Silent_p.D365D|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Silent_p.D358D|ISM2_ENST00000412904.1_Silent_p.D365D	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	446	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCTGGTGCTCGTCCTGTAGGC	0.652													G|||	322	0.0642971	0.0363	0.1571	5008	,	,		17437	0.0149		0.0765	False		,,,				2504	0.0746					.											0								G	,	210,4196	127.8+/-164.7	6,198,1999	36	38	37		,1338	-3	0.3	14	dbSNP_107	37	775,7825	179.2+/-228.4	32,711,3557	no	utr-3,coding-synonymous	ISM2	NM_182509.3,NM_199296.2	,	38,909,5556	AA,AG,GG		9.0116,4.7662,7.5734	,	,446/572	77942316	985,12021	2203	4300	6503	SO:0001819	synonymous_variant	145501			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.1338C>T	14.37:g.77942316G>A			A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	CCDS9864.1																																																																																				0.652	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		A	77942316	G	A	77942316	2	1	6	1	0	0	0	0	0	0	0	1	7861	1136	40	1		1	ISM2	14	77942316	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	56997636	77942316	29407224	60	432											
SPATA7	55812	bcgsc.ca	37	chr14	88892586	88892586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcttagccctcaggcgAaccgcaaattgaggatgaca	12	9	10	10	2	2	2	1	2	1	0	2	4	2	3	2	2	2	2	2	2	3	3			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:88892586A>G	ENST00000393545.4	+	6	672	c.383A>G	c.(382-384)gAa>gGa	p.E128G	SPATA7_ENST00000556553.1_Missense_Mutation_p.E96G|SPATA7_ENST00000356583.5_Missense_Mutation_p.E96G|SPATA7_ENST00000045347.7_Missense_Mutation_p.E128G	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	128					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CCCTCAGGCGAACCGCAAATT	0.373																																						.											0													43	41	42					14																	88892586		2203	4300	6503	SO:0001583	missense	55812			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.383A>G	14.37:g.88892586A>G	ENSP00000377176:p.Glu128Gly		Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.757492	0.49468	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000555401;ENST00000553885;ENST00000045347	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.38	5.38	0.77491	.	0.062767	0.64402	D	0.000006	T	0.45418	0.1341	M	0.70595	2.14	0.37018	D	0.896074	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.974	T	0.53913	-0.8371	10	0.56958	D	0.05	-24.6762	13.6381	0.62233	1.0:0.0:0.0:0.0	.	96;128	Q9P0W8-2;Q9P0W8	.;SPAT7_HUMAN	G	96;128;96;71;114;128	ENSP00000451128:E96G;ENSP00000377176:E128G;ENSP00000348991:E96G;ENSP00000452435:E71G;ENSP00000450606:E114G;ENSP00000045347:E128G	ENSP00000045347:E128G	E	+	2	0	SPATA7	87962339	0.995000	0.38212	0.959000	0.39883	0.072000	0.16883	4.827000	0.62723	2.159000	0.67721	0.528000	0.53228	GAA		0.373	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			G	88892586	A	G	88892586	3	3	6	1	0	0	0	0	1	0	0	0	15013	246	9	4	405	4	SPATA7	14	88892586	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	10950270	88892586	18456954	61	433											
C14orf142	84520	broad.mit.edu;mdanderson.org	37	chr14	93670052	93670052	+	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	gttaagacggtgtttttggcCgttttgcagatggtccatcg	6	15	13	7	3	0	2	0	0	0	2	2	2	1	2	2	3	1	4	2	3	1	5			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:93670052C>T	ENST00000306954.4	-	2	340	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	95										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		TGTTTTTGGCCGTTTTGCAGA	0.338																																						.											0													260	242	248					14																	93670052		1921	4144	6065	SO:0001583	missense	84520			AF277185	CCDS41981.1	14q32.12	2012-09-25			ENSG00000170270	ENSG00000170270			20356	protein-coding gene	gene with protein product							Standard	NM_032490		Approved		uc001ybl.1	Q9BXV9	OTTHUMG00000171267	ENST00000306954.4:c.284G>A	14.37:g.93670052C>T	ENSP00000306320:p.Arg95Gln		Q0D2N1|Q0P6C4|Q3B7W5	Missense_Mutation	SNP	ENST00000306954.4	37	CCDS41981.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441495	0.83993	.	.	ENSG00000170270	ENST00000306954;ENST00000556566	.	.	.	5.33	4.44	0.53790	.	.	.	.	.	T	0.24198	0.0586	N	0.24115	0.695	0.26450	N	0.97563	P	0.51057	0.941	B	0.39027	0.288	T	0.06881	-1.0802	8	0.62326	D	0.03	-0.4036	10.2431	0.43324	0.0:0.9089:0.0:0.0911	.	95	Q9BXV9	CN142_HUMAN	Q	95;66	.	ENSP00000306320:R95Q	R	-	2	0	C14orf142	92739805	0.994000	0.37717	0.992000	0.48379	0.989000	0.77384	2.733000	0.47360	1.389000	0.46526	0.655000	0.94253	CGG		0.338	C14orf142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412691.1	NM_032490		T	93670052	C	T	93670052	3	4	6	1	0	0	0	0	1	0	0	0	1747	652	23	1	22	1	C14orf142	14	93670052	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	4777466	93670052	13679488	62	434											
KIAA0284	283638	mdanderson.org	37	chr14	105349388	105349388	+	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	ccagagcgccccaagggaccAgtgcagcaggacggggagct	10	2	16	13	2	0	1	0	0	0	1	0	4	0	4	4	4	4	3	4	4	1	0	rs2028414	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:105349388A>C	ENST00000414716.3	+	8	822	c.594A>C	c.(592-594)ccA>ccC	p.P198P	CEP170B_ENST00000418279.1_Silent_p.P128P|CEP170B_ENST00000453495.1_Silent_p.P199P|CEP170B_ENST00000556508.1_Silent_p.P128P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	198						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCAAGGGACCAGTGCAGCAGG	0.672													g|||	2589	0.516973	0.5174	0.5865	5008	,	,		12916	0.2302		0.669	False		,,,				2504	0.6063					.											0									,	2039,1829		591,857,486	5	7	7		594,384	-5.3	0	14	dbSNP_94	7	5324,2774		1859,1606,584	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	2450,2463,1070	CC,CA,AA		34.2554,47.2854,38.4673	,	198/1555,128/1520	105349388	7363,4603	1934	4049	5983	SO:0001819	synonymous_variant	283638			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.594A>C	14.37:g.105349388A>C			Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																				0.672	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		C	105349388	A	C	105349388	2	2	6	1	0	0	0	0	0	0	0	1	8166	175	7	5		5	KIAA0284	14	105349388	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10	11679336	105349388	2000152	63	435											
AHNAK2	113146	mdanderson.org	37	chr14	105418155	105418155	+	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	gcggaagggggctgaatgctGaggtcagtggtcttgaggtc	7	9	19	6	1	2	3	1	3	1	0	3	4	2	4	0	6	1	2	0	6	2	1	rs141600524		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr14:105418155G>C	ENST00000333244.5	-	7	3752	c.3633C>G	c.(3631-3633)ctC>ctG	p.L1211L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1211						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	0.647																																						.											0								G		80,3750		19,42,1854	104	78	86		3633	-6	0	14	dbSNP_134	86	913,6543		290,333,3105	no	coding-synonymous	AHNAK2	NM_138420.2		309,375,4959	CC,CG,GG		12.2452,2.0888,8.7985		1211/5796	105418155	993,10293	1915	3728	5643	SO:0001819	synonymous_variant	113146			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.3633C>G	14.37:g.105418155G>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105418155	G	C	105418155	2	2	6	1	0	0	0	0	0	0	0	1	415	1277	45	5		5	AHNAK2	14	105418155	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	68767	105418155	1931385	64	436											
MYO1E	4643	mdanderson.org	37	chr15	59466112	59466112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttcaataagaggtctgAggctacaattcccaagaggg	12	10	11	8	0	2	3	1	1	1	2	3	3	3	3	1	3	1	2	1	3	5	5			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:59466112A>G	ENST00000288235.4	-	21	2566	c.2167T>C	c.(2167-2169)Tca>Cca	p.S723P	MIR2116_ENST00000517221.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	723	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.|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)		AAGAGGTCTGAGGCTACAATT	0.403																																						.											0													135	145	142					15																	59466112		2191	4291	6482	SO:0001583	missense	4643			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.2167T>C	15.37:g.59466112A>G	ENSP00000288235:p.Ser723Pro		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779860	0.70222	.	.	ENSG00000157483	ENST00000288235	T	0.39229	1.09	5.18	5.18	0.71444	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.90814	3.15	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.76022	-0.3111	10	0.54805	T	0.06	.	15.1913	0.73047	1.0:0.0:0.0:0.0	.	723	Q12965	MYO1E_HUMAN	P	723	ENSP00000288235:S723P	ENSP00000288235:S723P	S	-	1	0	MYO1E	57253404	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	9.126000	0.94411	2.165000	0.68154	0.533000	0.62120	TCA		0.403	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		G	59466112	A	G	59466112	3	3	6	1	0	0	0	0	1	0	0	0	10072	304	11	2	1191	2	MYO1E	15	59466112	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		59466112	43065280	65	437											
USP3	9960	broad.mit.edu;mdanderson.org	37	chr15	63866525	63866525	+	Missense_Mutation	SNP	T	T	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	ctctctctccttttaagaccTttcattagatattccaagtc	9	17	3	12	0	3	2	1	0	2	2	7	2	4	2	3	0	0	0	3	0	4	6			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:63866525T>C	ENST00000380324.3	+	11	1148	c.1019T>C	c.(1018-1020)cTt>cCt	p.L340P	USP3_ENST00000559711.1_Missense_Mutation_p.L251P|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.L296P|USP3_ENST00000539772.1_Missense_Mutation_p.L91P|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.L323P|USP3_ENST00000268049.7_Missense_Mutation_p.L318P	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	340	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)		TTTTAAGACCTTTCATTAGAT	0.338																																						.											0													109	108	108					15																	63866525		2203	4300	6503	SO:0001583	missense	9960			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.1019T>C	15.37:g.63866525T>C	ENSP00000369681:p.Leu340Pro		B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567491	0.86439	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.84	5.84	0.93424	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	M	0.93197	3.39	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;0.999;0.999	T	0.49214	-0.8963	10	0.87932	D	0	.	16.2055	0.82126	0.0:0.0:0.0:1.0	.	296;296;318;340	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	P	296;340;318;91;255;171	ENSP00000445828:L296P;ENSP00000369681:L340P;ENSP00000268049:L318P;ENSP00000445642:L91P	ENSP00000268049:L318P	L	+	2	0	USP3	61653578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.226000	0.72624	0.482000	0.46254	CTT		0.338	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			C	63866525	T	C	63866525	3	2	6	1	0	0	0	0	1	0	0	0	17057	1609	56	2	1061	2	USP3	15	63866525	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	4400413	63866525	38664867	66	438											
ANP32A	8125	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr15	69079816	69079816	+	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	aatttagatgcgtgaggttcGgacacttttctgccaatact	10	14	9	8	2	1	2	0	1	1	1	2	3	1	3	1	2	3	1	1	2	4	6			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:69079816G>A	ENST00000465139.2	-	3	406	c.263C>T	c.(262-264)cCg>cTg	p.P88L	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.P88L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	88					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						CGTGAGGTTCGGACACTTTTC	0.453																																						.											0													107	115	112					15																	69079816		2200	4298	6498	SO:0001583	missense	8125			AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"ANP32 acidic nuclear phosphoproteins"	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.263C>T	15.37:g.69079816G>A	ENSP00000417864:p.Pro88Leu		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	G	37	6.477195	0.97598	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.64085	-0.08	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.92268	3.29	0.80722	D	1	D	0.59767	0.986	P	0.53360	0.724	D	0.85654	0.1284	10	0.87932	D	0	.	18.6073	0.91271	0.0:0.0:1.0:0.0	.	88	P39687	AN32A_HUMAN	L	88	ENSP00000417864:P88L	ENSP00000350970:P88L	P	-	2	0	ANP32A	66866870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.611000	0.98342	2.640000	0.89533	0.655000	0.94253	CCG		0.453	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			A	69079816	G	A	69079816	3	1	6	1	0	0	0	0	1	0	0	0	705	1116	39	1	506	1	ANP32A	15	69079816	Missense_Mutation	SNP	G	TCGA-KL-8328-01A-11D-2310-10	5213291	69079816	33451576	67	439											
KIAA1199	57214	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr15	81216982	81216982	+	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	gctggcatgatcatagacaaCggagtcaaaaccaccgaggc	14	5	11	11	2	2	2	2	1	0	1	2	4	2	3	2	3	2	2	2	3	4	1			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:81216982C>T	ENST00000394685.3	+	18	2642	c.2223C>T	c.(2221-2223)aaC>aaT	p.N741N	KIAA1199_ENST00000356249.5_Silent_p.N741N|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.N741N			Q8WUJ3	CEMIP_HUMAN		741					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						TCATAGACAACGGAGTCAAAA	0.527																																						.											0													116	96	102					15																	81216982		2203	4300	6503	SO:0001819	synonymous_variant	57214																														ENST00000394685.3:c.2223C>T	15.37:g.81216982C>T			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																				0.527	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			T	81216982	C	T	81216982	2	4	6	1	0	0	0	0	0	0	0	1	8213	535	19	1		1	KIAA1199	15	81216982	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	12137166	81216982	21314410	68	440											
MEF2A	4205	hgsc.bcm.edu	37	chr15	100250958	100250958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggacaagcagccctcagcTctcttgtgtgagtaactaga	11	10	10	10	0	2	2	1	1	1	1	3	3	2	3	1	1	4	3	1	1	4	4			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:100250958T>C	ENST00000557785.1	+	10	1454	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	MEF2A_ENST00000449277.2_Missense_Mutation_p.S301P|MEF2A_ENST00000354410.5_Missense_Mutation_p.S371P|MEF2A_ENST00000338042.6_Missense_Mutation_p.S378P|MEF2A_ENST00000557942.1_Missense_Mutation_p.S377P|MEF2A_ENST00000558812.1_Missense_Mutation_p.S309P|MEF2A_ENST00000453228.2_Missense_Mutation_p.S369P	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	379					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)	p.S379T(1)		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)			AGCCCTCAGCTCTCTTGTGTG	0.527																																						.											1	Substitution - Missense(1)	ovary(1)											45	47	46					15																	100250958		2051	4204	6255	SO:0001583	missense	4205				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.1105T>C	15.37:g.100250958T>C	ENSP00000453441:p.Ser369Pro		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619364	0.87460	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.10763	2.84;2.84;2.84;3.1	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.34521	1.04	0.43377	D	0.995477	D;D;D;D;D;D	0.89917	0.998;0.998;0.99;1.0;0.999;0.997	D;D;D;D;D;D	0.87578	0.995;0.981;0.972;0.997;0.998;0.991	T	0.00931	-1.1510	10	0.49607	T	0.09	-20.8248	15.8544	0.78965	0.0:0.0:0.0:1.0	.	379;309;290;369;371;377	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	P	369;371;378;309	ENSP00000404110:S369P;ENSP00000346389:S371P;ENSP00000337202:S378P;ENSP00000399460:S309P	ENSP00000337202:S378P	S	+	1	0	MEF2A	98068481	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.147000	0.66899	0.460000	0.39030	TCT		0.527	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			C	100250958	T	C	100250958	3	2	6	1	0	0	0	0	1	0	0	0	9455	1551	54	2	1305	2	MEF2A	15	100250958	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	19033976	100250958	2280434	69	441											
LRRK1	79705	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	101606197	101606197	+	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	ctcatccccaccccgccaggCtgccaggtccccctcaagcc	6	5	7	23	1	2	0	2	0	0	0	4	0	4	0	9	2	2	1	9	2	1	0			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr15:101606197C>T	ENST00000388948.3	+	32	5914	c.5555C>T	c.(5554-5556)gCt>gTt	p.A1852V	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.A1849V	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)			CCCCGCCAGGCTGCCAGGTCC	0.597																																						.											0													78	90	86					15																	101606197		2116	4230	6346	SO:0001583	missense	79705			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.5555C>T	15.37:g.101606197C>T	ENSP00000373600:p.Ala1852Val			Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.121064	0.01785	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.71698	-0.57;-0.59	5.61	-3.26	0.05064	.	1.306490	0.05010	N	0.470847	T	0.38188	0.1031	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14364	-1.0475	10	0.21540	T	0.41	.	4.1954	0.10441	0.0988:0.4295:0.0936:0.378	.	1852	Q38SD2	LRRK1_HUMAN	V	1852;1849;543;406	ENSP00000373600:A1852V;ENSP00000284395:A1849V	ENSP00000284395:A1849V	A	+	2	0	LRRK1	99423720	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	0.101000	0.15251	-0.464000	0.06963	-0.136000	0.14681	GCT		0.597	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101606197	C	T	101606197	3	4	6	1	0	0	0	0	1	0	0	0	9032	797	28	4	5677	4	LRRK1	15	101606197	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	1355239	101606197	925195	70	442											
NPRL3	8131	bcgsc.ca	37	chr16	169144	169144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgccccagagcatgctgtAgcagtgttgggtgcccaaca	8	8	12	13	0	0	1	0	0	0	1	0	1	0	1	4	1	6	5	4	1	2	2			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr16:169144A>G	ENST00000399953.3	-	3	701	c.299T>C	c.(298-300)cTa>cCa	p.L100P	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	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)	100					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						AGCATGCTGTAGCAGTGTTGG	0.532																																						.											0													78	83	81					16																	169144		2013	4162	6175	SO:0001583	missense	8131				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.299T>C	16.37:g.169144A>G	ENSP00000382834:p.Leu100Pro		D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37		.	.	.	.	.	.	.	.	.	.	A	13.35	2.211931	0.39102	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	4.06	0.47325	Galactose-binding domain-like (1);	0.137738	0.50627	D	0.000116	T	0.75968	0.3922	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.986	D;D;D;P	0.74348	0.972;0.983;0.952;0.9	T	0.75519	-0.3289	8	0.45353	T	0.12	-14.1353	11.5109	0.50492	0.8495:0.1505:0.0:0.0	.	22;100;100;100	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	P	100;100;113	.	ENSP00000262313:L100P	L	-	2	0	NPRL3	109144	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	8.948000	0.93006	0.877000	0.35895	0.533000	0.62120	CTA		0.532	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		G	169144	A	G	169144	3	3	6	1	0	0	0	0	1	0	0	0	10598	420	15	2	1453	2	NPRL3	16	169144	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		169144	90185609	71	443											
CACNA1H	8912	mdanderson.org	37	chr16	1250389	1250389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccgccgcgagctgcgcAtgccctgcaccctgggctgg	3	5	15	18	5	0	0	0	0	0	0	0	1	0	0	5	3	4	4	5	3	0	0	rs36117280	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr16:1250389A>G	ENST00000348261.5	+	7	1185	c.937A>G	c.(937-939)Atg>Gtg	p.M313V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.M313V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.M313V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	313			M -> V (in dbSNP:rs36117280). {ECO:0000269|PubMed:11157797, ECO:0000269|PubMed:12891677, ECO:0000269|PubMed:15616553}.		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)	CGAGCTGCGCATGCCCTGCAC	0.672													g|||	514	0.102636	0.0651	0.0965	5008	,	,		17775	0.0625		0.1392	False		,,,				2504	0.1616					.											0									VAL/MET,VAL/MET	286,3770		8,270,1750	21	23	23		937,937	1.3	0.8	16	dbSNP_126	23	1201,7121		95,1011,3055	yes	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	21,21	103,1281,4805	GG,GA,AA		14.4316,7.0513,12.0132	benign,benign	313/2348,313/2354	1250389	1487,10891	2028	4161	6189	SO:0001583	missense	8912			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.937A>G	16.37:g.1250389A>G	ENSP00000334198:p.Met313Val		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	212	0.09706959706959707	34	0.06910569105691057	37	0.10220994475138122	29	0.050699300699300696	112	0.14775725593667546	G	0.522	-0.861845	0.02610	0.070513	0.144316	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.95821	-3.82;-3.76	4.4	1.31	0.21738	Ion transport (1);	3.577580	0.00786	N	0.001311	T	0.02047	0.0064	N	0.00742	-1.23	0.53688	P	2.6999999999999247E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65249	-0.6214	9	0.15499	T	0.54	.	5.2097	0.15310	0.2553:0.1716:0.5731:0.0	rs36117280;rs58100776	313;313	O95180-2;O95180	.;CAC1H_HUMAN	V	313	ENSP00000334198:M313V;ENSP00000351401:M313V	ENSP00000334198:M313V	M	+	1	0	CACNA1H	1190390	0.025000	0.19082	0.832000	0.32986	0.360000	0.29518	0.078000	0.14761	-0.083000	0.12618	-0.195000	0.12781	ATG		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		G	1250389	A	G	1250389	3	3	6	1	0	0	0	0	1	0	0	0	2545	217	8	4	959	4	CACNA1H	16	1250389	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	1081245	1250389	89104364	72	444											
C16orf3	2622	hgsc.bcm.edu	37	chr16	90095603	90095604	+	Intron	INS	-	-	GGCTGCGGGGCA																															acggggcaggctatggggcaINSgcctacggggcaggctacgg																										TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr16:90095603_90095604insGGCTGCGGGGCA	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_In_Frame_Ins_p.50_51insPAAC|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						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)		gctatggggcagcctacggggc	0.658																																						.											0																																										SO:0001627	intron_variant	750			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.90+1473->GGCTGCGGGGCA	16.37:g.90095603_90095604insGGCTGCGGGGCA			B2RCT1|B7Z4U1|G3V1L5|Q2M234	In_Frame_Ins	INS	ENST00000268699.4	37	CCDS10992.1																																																																																				0.658	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			GGCTGCGGGGCA	90095604	-	GGCTGCGGGGCA	90095603	6	5	6	0	1	1	1	0	0	0	0	0	1812	188	7	0		0	C16orf3	16	90095603	Intron	INS	-	TCGA-KL-8328-01A-11D-2310-10	88845214	90095603	259150	73	445											
OR1A2	26189	bcgsc.ca	37	chr17	3101590	3101590	+	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	caacgatgggcatgtatttcCgccctctgaccagttacagc	9	10	9	13	2	1	1	0	1	1	0	2	2	2	1	3	1	3	3	3	1	3	3	rs2469791	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr17:3101590C>T	ENST00000381951.1	+	1	778	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	260			R -> C (in dbSNP:rs2469791). {ECO:0000269|PubMed:15489334}.		positive regulation of cytokinesis (GO:0032467)	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)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CATGTATTTCCGCCCTCTGAC	0.438													C|||	740	0.147764	0.2194	0.1571	5008	,	,		18666	0.001		0.2406	False		,,,				2504	0.1002					.											0								C	CYS/ARG	932,3474	356.4+/-313.5	100,732,1371	115	110	112		778	-0.6	0	17	dbSNP_100	112	2170,6430	370.0+/-335.7	279,1612,2409	yes	missense	OR1A2	NM_012352.1	180	379,2344,3780	TT,TC,CC		25.2326,21.153,23.8505	probably-damaging	260/310	3101590	3102,9904	2203	4300	6503	SO:0001583	missense	26189			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.778C>T	17.37:g.3101590C>T	ENSP00000371377:p.Arg260Cys		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	CCDS11021.1	338	0.15476190476190477	104	0.21138211382113822	61	0.1685082872928177	0	0.0	173	0.22823218997361477	C	1.569	-0.534700	0.04082	0.21153	0.252326	ENSG00000172150	ENST00000381951	T	0.35789	1.29	4.0	-0.599	0.11645	GPCR, rhodopsin-like superfamily (1);	0.135982	0.34268	N	0.004118	T	0.00012	0.0000	L	0.52573	1.65	0.80722	P	0.0	P	0.36535	0.557	B	0.34093	0.175	T	0.28713	-1.0035	9	0.23302	T	0.38	.	4.6096	0.12395	0.157:0.5721:0.0:0.2709	rs2469791;rs52812308;rs56722735;rs2469791	260	Q9Y585	OR1A2_HUMAN	C	260	ENSP00000371377:R260C	ENSP00000371377:R260C	R	+	1	0	OR1A2	3048340	0.000000	0.05858	0.012000	0.15200	0.177000	0.22998	-1.119000	0.03276	-0.147000	0.11254	0.543000	0.68304	CGC		0.438	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		T	3101590	C	T	3101590	3	4	6	1	0	0	0	0	1	0	0	0	10950	652	23	1	780	1	OR1A2	17	3101590	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10		3101590	78093620	74	446											
SDK2	54549	ucsc.edu	37	chr17	71468293	71468293	+	Missense_Mutation	SNP	T	T	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	ccgctgcagcagggcccccaTtcggttccgcacgatgcaac	7	6	11	17	4	0	0	0	0	0	0	2	1	1	0	4	2	4	6	4	2	1	2			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr17:71468293T>C	ENST00000392650.3	-	3	289	c.289A>G	c.(289-291)Atg>Gtg	p.M97V	SDK2_ENST00000388726.3_Missense_Mutation_p.M97V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	97	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						AGGGCCCCCATTCGGTTCCGC	0.632																																						.											0													31	33	32					17																	71468293		692	1591	2283	SO:0001583	missense	54549			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.289A>G	17.37:g.71468293T>C	ENSP00000376421:p.Met97Val		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.042|5.042	0.193439|0.193439	0.09599|0.09599	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.35973|.	1.28;1.28|.	4.76|4.76	4.76|4.76	0.60689|0.60689	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);|.	0.084158|.	0.47455|.	U|.	0.000221|.	T|T	0.31888|0.31888	0.0811|0.0811	N|N	0.02802|0.02802	-0.49|-0.49	0.43326|0.43326	D|D	0.995352|0.995352	B|.	0.06786|.	0.001|.	B|.	0.11329|.	0.006|.	T|T	0.24297|0.24297	-1.0164|-1.0164	10|5	0.08599|.	T|.	0.76|.	.|.	14.2239|14.2239	0.65845|0.65845	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	97|.	Q58EX2|.	SDK2_HUMAN|.	V|S	97|1	ENSP00000376421:M97V;ENSP00000373378:M97V|.	ENSP00000324967:M97V|.	M|N	-|-	1|2	0|0	SDK2|SDK2	68979888|68979888	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.404000|0.404000	0.30871|0.30871	4.217000|4.217000	0.58547|0.58547	1.907000|1.907000	0.55213|0.55213	0.247000|0.247000	0.18012|0.18012	ATG|AAT		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		C	71468293	T	C	71468293	3	2	6	1	0	0	0	0	1	0	0	0	13969	1493	52	4	6401	4	SDK2	17	71468293	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	68366703	71468293	9726917	75	447											
CNDP1	84735	broad.mit.edu;mdanderson.org	37	chr18	72234590	72234590	+	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	ggtgtggactacattgtaatTtcagataacctgtggatcag	11	13	11	6	0	2	1	2	0	0	1	2	3	2	3	1	3	2	1	1	3	3	5			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr18:72234590T>C	ENST00000358821.3	+	6	906	c.678T>C	c.(676-678)atT>atC	p.I226I	CNDP1_ENST00000582365.1_Silent_p.I183I	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	226						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACATTGTAATTTCAGATAACC	0.493																																					Melanoma(32;1029 1042 25286 38395 44237)	.											0													115	120	118					18																	72234590		2203	4300	6503	SO:0001819	synonymous_variant	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.678T>C	18.37:g.72234590T>C			Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	CCDS12007.1																																																																																				0.493	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		C	72234590	T	C	72234590	2	2	6	1	0	0	0	0	0	0	0	1	3593	1829	64	4		4	CNDP1	18	72234590	Silent	SNP	T	TCGA-KL-8328-01A-11D-2310-10		72234590	5842658	76	448											
RFX2	5990	broad.mit.edu;mdanderson.org	37	chr19	6004252	6004252	+	Missense_Mutation	SNP	T	T	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	gtgggaagtcactcatggcaTttgtcaaccagccttccaag	10	10	10	11	0	3	0	3	0	0	0	4	1	4	1	3	2	2	1	3	2	3	2			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:6004252T>C	ENST00000303657.5	-	13	1609	c.1460A>G	c.(1459-1461)aAt>aGt	p.N487S	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.N462S|RFX2_ENST00000359161.3_Missense_Mutation_p.N487S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACTCATGGCATTTGTCAACCA	0.577																																					Colon(38;171 817 19800 47433 48051)	.											0													201	172	182					19																	6004252		2203	4300	6503	SO:0001583	missense	5990				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1460A>G	19.37:g.6004252T>C	ENSP00000306335:p.Asn487Ser		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253017	0.22965	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.06608	3.28	5.14	5.14	0.70334	.	0.098858	0.64402	D	0.000003	T	0.03263	0.0095	N	0.03948	-0.315	0.49687	D	0.999812	B;B	0.12630	0.006;0.004	B;B	0.17979	0.02;0.004	T	0.48927	-0.8991	10	0.11794	T	0.64	-30.9915	14.0709	0.64858	0.0:0.0:0.0:1.0	.	462;487	P48378-2;P48378	.;RFX2_HUMAN	S	487;462;274	ENSP00000306335:N487S	ENSP00000306335:N487S	N	-	2	0	RFX2	5955252	0.972000	0.33761	0.542000	0.28115	0.634000	0.38068	1.682000	0.37628	2.057000	0.61298	0.533000	0.62120	AAT		0.577	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		C	6004252	T	C	6004252	3	2	6	1	0	0	0	0	1	0	0	0	13263	1493	52	4	735	4	RFX2	19	6004252	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10		6004252	53124731	77	449											
ZNF763	284390	mdanderson.org	37	chr19	12087921	12087921	+	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	tgggctttgctggatatttcGcagaggaaactctacaggga	10	11	13	7	1	1	1	0	0	1	1	2	4	1	4	0	4	3	3	0	4	3	4	rs376310072	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:12087921G>C	ENST00000358987.3	+	2	199	c.72G>C	c.(70-72)tcG>tcC	p.S24S	ZNF763_ENST00000538752.1_Silent_p.S44S|ZNF763_ENST00000343949.5_Silent_p.S27S|ZNF763_ENST00000591944.1_Silent_p.S93S|ZNF763_ENST00000590798.1_Silent_p.S44S|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000592625.1_Silent_p.S24S			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGGATATTTCGCAGAGGAAAC	0.493													N|||	4	0.000798722	0.0023	0	5008	,	,		18630	0		0.001	False		,,,				2504	0					.											0													150	152	151					19																	12087921		2203	4300	6503	SO:0001819	synonymous_variant	284390			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.72G>C	19.37:g.12087921G>C			B3KRU3|B4DRE7	Silent	SNP	ENST00000358987.3	37																																																																																					0.493	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		C	12087921	G	C	12087921	2	2	6	1	0	0	0	0	0	0	0	1	18134	1074	38	5		5	ZNF763	19	12087921	Silent	SNP	G	TCGA-KL-8328-01A-11D-2310-10	6083669	12087921	47041062	78	450											
LSM14A	26065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	34712450	34712450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgaagaaagaagattaaAtgctgaaacatttggaatcc	17	9	10	5	0	0	5	0	2	0	3	1	6	1	6	1	2	2	2	1	2	7	2			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:34712450A>G	ENST00000433627.5	+	9	1250	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	LSM14A_ENST00000544216.3_Missense_Mutation_p.N392S|LSM14A_ENST00000540746.2_Missense_Mutation_p.N351S	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	392					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.N392S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGAAGATTAAATGCTGAAACA	0.463																																						.											1	Substitution - Missense(1)	lung(1)											82	69	74					19																	34712450		2203	4300	6503	SO:0001583	missense	26065			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1175A>G	19.37:g.34712450A>G	ENSP00000413964:p.Asn392Ser		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	a	27.6	4.844127	0.91197	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.58210	0.35;0.36;0.39	5.96	5.96	0.96718	FFD/TFG box motif (1);	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.995;0.989;0.997	D	0.83929	0.0305	10	0.87932	D	0	-17.9772	16.4277	0.83824	1.0:0.0:0.0:0.0	.	351;392;392	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	S	392;392;351	ENSP00000446271:N392S;ENSP00000413964:N392S;ENSP00000446451:N351S	ENSP00000314768:N392S	N	+	2	0	LSM14A	39404290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.874000	0.92363	2.279000	0.76181	0.533000	0.62120	AAT		0.463	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		G	34712450	A	G	34712450	3	3	6	1	0	0	0	0	1	0	0	0	9054	101	4	4	1209	4	LSM14A	19	34712450	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10	22624529	34712450	24416533	79	451											
IRGC	56269	mdanderson.org	37	chr19	44223180	44223180	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctggccgctgagatccTgtgccagggcaagaagttct	7	8	13	13	2	1	2	0	1	1	2	2	3	2	2	5	2	1	3	5	2	2	1	rs142490244		TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:44223180T>C	ENST00000244314.5	+	2	669	c.470T>C	c.(469-471)cTg>cCg	p.L157P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	157	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCTGAGATCCTGTGCCAGGGC	0.652																																					Colon(189;350 2037 11447 13433 38914)	.											0								T	PRO/LEU	0,4366		0,0,2183	16	16	16		470	-0.9	0.6	19	dbSNP_134	16	6,8528		0,6,4261	yes	missense	IRGC	NM_019612.3	98	0,6,6444	CC,CT,TT		0.0703,0.0,0.0465	probably-damaging	157/464	44223180	6,12894	2183	4267	6450	SO:0001583	missense	56269			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.470T>C	19.37:g.44223180T>C	ENSP00000244314:p.Leu157Pro		Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813862	0.32053	0.0	7.03E-4	ENSG00000124449	ENST00000244314	T	0.21932	1.98	5.71	-0.933	0.10431	.	0.560197	0.15908	N	0.238733	T	0.14527	0.0351	N	0.19112	0.55	0.33327	D	0.568032	D	0.53312	0.959	P	0.49421	0.61	T	0.34378	-0.9831	10	0.30854	T	0.27	.	6.4041	0.21654	0.4974:0.0:0.1315:0.3711	.	157	Q6NXR0	IIGP5_HUMAN	P	157	ENSP00000244314:L157P	ENSP00000244314:L157P	L	+	2	0	IRGC	48915020	1.000000	0.71417	0.615000	0.29064	0.582000	0.36321	2.781000	0.47750	0.065000	0.16485	0.454000	0.30748	CTG		0.652	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		C	44223180	T	C	44223180	3	2	6	1	0	0	0	0	1	0	0	0	7838	1580	55	2	472	2	IRGC	19	44223180	Missense_Mutation	SNP	T	TCGA-KL-8328-01A-11D-2310-10	9510730	44223180	14905803	80	452											
ZNF235	9310	mdanderson.org	37	chr19	44791618	44791618	+	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	attctttcccacattcctcaCatttaaatggtttctctcca	9	17	2	13	0	3	0	1	0	2	0	7	0	6	0	3	1	0	1	3	1	2	6			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:44791618C>T	ENST00000291182.4	-	5	2072	c.1970G>A	c.(1969-1971)tGt>tAt	p.C657Y	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	657					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(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ACATTCCTCACATTTAAATGG	0.458																																						.											0													107	100	103					19																	44791618		2203	4300	6503	SO:0001583	missense	9310			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1970G>A	19.37:g.44791618C>T	ENSP00000291182:p.Cys657Tyr		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995989	0.74703	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	D	0.85088	-1.94	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000432	D	0.94788	0.8317	H	0.95745	3.715	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96269	0.9197	10	0.87932	D	0	-20.7433	17.3494	0.87318	0.0:1.0:0.0:0.0	.	653;657	Q14590-2;Q14590	.;ZN235_HUMAN	Y	657;657;549	ENSP00000291182:C657Y	ENSP00000291182:C657Y	C	-	2	0	ZNF235	49483458	1.000000	0.71417	0.974000	0.42286	0.927000	0.56198	7.446000	0.80609	2.469000	0.83416	0.305000	0.20034	TGT		0.458	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			T	44791618	C	T	44791618	3	4	6	1	0	0	0	0	1	0	0	0	17785	478	17	4	250	4	ZNF235	19	44791618	Missense_Mutation	SNP	C	TCGA-KL-8328-01A-11D-2310-10	568438	44791618	14337365	81	453											
KLC3	147700	mdanderson.org	37	chr19	45849909	45849909	+	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	aacgtgtggctgcgggaggaActggaggagacgcagcggcg	9	4	20	8	5	0	1	0	0	0	1	0	5	0	4	0	6	4	2	0	6	2	0	rs9749618	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:45849909A>G	ENST00000391946.2	+	3	468	c.366A>G	c.(364-366)gaA>gaG	p.E122E	KLC3_ENST00000470402.1_Silent_p.E136E|KLC3_ENST00000585434.1_Silent_p.E122E	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	122					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)		TGCGGGAGGAACTGGAGGAGA	0.701													A|||	983	0.196286	0.0809	0.1873	5008	,	,		11388	0.0873		0.334	False		,,,				2504	0.3292					.											0								A		444,3498		44,356,1571	5	7	6		366	1.9	1	19	dbSNP_119	6	2326,5724		403,1520,2102	no	coding-synonymous	KLC3	NM_177417.2		447,1876,3673	GG,GA,AA		28.8944,11.2633,23.0987		122/505	45849909	2770,9222	1971	4025	5996	SO:0001819	synonymous_variant	147700			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.366A>G	19.37:g.45849909A>G			A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Silent	SNP	ENST00000391946.2	37	CCDS12660.2																																																																																				0.701	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		G	45849909	A	G	45849909	2	3	6	1	0	0	0	0	0	0	0	1	8335	40	2	2		2	KLC3	19	45849909	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10	1058291	45849909	13279074	82	454											
PPP5C	5536	mdanderson.org	37	chr19	46878881	46878881	+	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	gtggtcaaggtgaagccccaTgacaaggatgccaaaatgaa	15	6	12	8	0	1	3	1	3	0	0	1	4	1	4	3	3	2	0	3	3	6	0	rs576127473	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:46878881T>C	ENST00000012443.4	+	3	487	c.384T>C	c.(382-384)caT>caC	p.H128H	PPP5C_ENST00000391919.1_Silent_p.H22H	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	128					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAAGCCCCATGACAAGGATG	0.632													C|||	2	0.000399361	8e-04	0	5008	,	,		17659	0		0	False		,,,				2504	0.001					.											0													74	57	63					19																	46878881		2203	4300	6503	SO:0001819	synonymous_variant	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.384T>C	19.37:g.46878881T>C			Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	37	CCDS12684.1																																																																																				0.632	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		C	46878881	T	C	46878881	2	2	6	1	0	0	0	0	0	0	0	1	12406	1461	51	4		4	PPP5C	19	46878881	Silent	SNP	T	TCGA-KL-8328-01A-11D-2310-10	1028972	46878881	12250102	83	455											
LILRA2	11027	mdanderson.org	37	chr19	55086955	55086955	+	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	gggggccagtacagatgctaCagtgcacacaacctctcctc	10	7	10	14	0	1	1	0	0	1	1	3	1	1	1	3	2	5	3	3	2	3	2	rs145792151	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr19:55086955C>T	ENST00000251377.3	+	6	1021	c.888C>T	c.(886-888)taC>taT	p.Y296Y	LILRA2_ENST00000391738.3_Silent_p.Y296Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.Y296Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.Y284Y			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	296	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACAGATGCTACAGTGCACACA	0.672													c|||	52	0.0103834	0.0363	0.0043	5008	,	,		15740	0.001		0	False		,,,				2504	0					.											0													50	53	52					19																	55086955		2203	4299	6502	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.888C>T	19.37:g.55086955C>T			O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.672	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			T	55086955	C	T	55086955	2	4	6	1	0	0	0	0	0	0	0	1	8785	489	17	4		4	LILRA2	19	55086955	Silent	SNP	C	TCGA-KL-8328-01A-11D-2310-10	8208074	55086955	4042028	84	456											
RFPL3	10738	mdanderson.org	37	chr22	32756407	32756407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttacctgtggccgccactActgggaggtggacgtgggaa	7	9	15	10	2	0	0	0	0	0	0	0	3	0	3	3	5	2	0	3	5	3	3	rs5749408	byFrequency	TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chr22:32756407A>G	ENST00000249007.4	+	2	747	c.542A>G	c.(541-543)tAc>tGc	p.Y181C	RFPL3S_ENST00000461833.1_5'Flank|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.Y152C|RFPL3_ENST00000397468.1_Missense_Mutation_p.Y152C	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	181	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Y -> C (in dbSNP:rs5749408).				zinc ion binding (GO:0008270)	p.Y152C(1)|p.Y181C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGCCGCCACTACTGGGAGGTG	0.562													a|||	851	0.169928	0.1059	0.1124	5008	,	,		18743	0.4583		0.0467	False		,,,				2504	0.1268					.											2	Substitution - Missense(2)	stomach(2)						A	CYS/TYR,CYS/TYR	499,3907	228.1+/-243.1	40,419,1744	85	86	85		542,455	0.7	0.2	22	dbSNP_114	85	479,8117	140.3+/-196.8	11,457,3830	no	missense,missense	RFPL3	NM_001098535.1,NM_006604.2	194,194	51,876,5574	GG,GA,AA		5.5724,11.3255,7.5219	benign,benign	181/318,152/289	32756407	978,12024	2203	4298	6501	SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.542A>G	22.37:g.32756407A>G	ENSP00000249007:p.Tyr181Cys		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	CCDS43011.1	386	0.17673992673992675	52	0.10569105691056911	46	0.1270718232044199	254	0.44405594405594406	34	0.044854881266490766	A	8.527	0.870091	0.17322	0.113255	0.055724	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.74947	-0.89;-0.89;-0.89	0.704	0.704	0.18121	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	0.00012	0.0000	M	0.81497	2.545	0.09310	P	0.999999999404185	B	0.33413	0.411	B	0.28709	0.093	T	0.22556	-1.0213	8	0.54805	T	0.06	.	5.601	0.17353	0.9999:0.0:1.0E-4:0.0	rs5749408	181	O75679	RFPL3_HUMAN	C	152;181;152	ENSP00000380609:Y152C;ENSP00000249007:Y181C;ENSP00000371520:Y152C	ENSP00000249007:Y181C	Y	+	2	0	RFPL3	31086407	0.989000	0.36119	0.246000	0.24233	0.050000	0.14768	1.786000	0.38694	0.528000	0.28580	0.172000	0.16884	TAC		0.562	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		G	32756407	A	G	32756407	3	3	6	1	0	0	0	0	1	0	0	0	13255	391	14	2	548	2	RFPL3	22	32756407	Missense_Mutation	SNP	A	TCGA-KL-8328-01A-11D-2310-10		32756407	18548159	85	457											
TMEM27	57393	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	15657840	15657840	+	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	aaaaattccagagtttggtcAtttagaaagaaggcattgtt	15	13	9	4	0	1	3	1	0	0	3	2	3	2	3	1	2	0	3	1	2	5	6			TCGA-KL-8328-01A-11D-2310-10	TCGA-KL-8328-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2ccd028d-e7e0-4f77-a512-f658a31819a4	f468e484-9121-46a5-90cf-abe4cf4e7335	g.chrX:15657840A>G	ENST00000380342.3	-	5	612	c.357T>C	c.(355-357)aaT>aaC	p.N119N		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	119					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					GAGTTTGGTCATTTAGAAAGA	0.328																																						.											0													136	140	139					X																	15657840		2203	4300	6503	SO:0001819	synonymous_variant	57393			AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"collectrin"	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.357T>C	X.37:g.15657840A>G			B2R9M1|Q6UW07	Silent	SNP	ENST00000380342.3	37	CCDS14170.1																																																																																				0.328	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665		G	15657840	A	G	15657840	2	3	6	1	0	0	0	0	0	0	0	1	16149	214	8	4		4	TMEM27	23	15657840	Silent	SNP	A	TCGA-KL-8328-01A-11D-2310-10		15657840	139612720	86	458											
KIF1B	23095	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	10364647	10364647	+	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	ccagtttgtgacacctccgcGgatgaggagacagttctcag	9	9	12	11	2	1	3	1	2	1	1	3	5	2	4	3	2	0	2	3	2	0	2			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:10364647G>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377083.1_Missense_Mutation_p.R1135L|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.R1135L|KIF1B_ENST00000377081.1_Intron|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						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)		ACACCTCCGCGGATGAGGAGA	0.468																																						.											0													45	43	44					1																	10364647		2203	4300	6503	SO:0001627	intron_variant	23095			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.2115+7343G>T	1.37:g.10364647G>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.680881	0.88542	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.77750	-1.12;-1.12	5.99	5.99	0.97316	.	.	.	.	.	D	0.89389	0.6701	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.89498	0.3762	8	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1135	O60333-3	.	L	1135	ENSP00000366297:R1135L;ENSP00000366287:R1135L	ENSP00000366287:R1135L	R	+	2	0	KIF1B	10287234	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	9.131000	0.94446	2.840000	0.97914	0.655000	0.94253	CGG		0.468	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10364647	G	T	10364647	1	4	7	0	1	0	0	0	0	0	0	0	8284	1116	39	5		5	KIF1B	1	10364647	Intron	SNP	G	TCGA-KL-8329-01A-11D-2310-10		10364647	238885974	1	459											
NBPF3	84224	mdanderson.org	37	chr1	21806667	21806667	+	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	tgccagccctacagaagtgaCttttactcattgcaggaaca	12	10	8	11	0	1	2	1	1	0	1	1	3	1	3	2	1	6	1	2	1	4	4	rs12043777	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:21806667C>G	ENST00000318249.5	+	11	1682	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E	NBPF3_ENST00000342104.5_Missense_Mutation_p.D432E|NBPF3_ENST00000454000.2_Missense_Mutation_p.D374E|NBPF3_ENST00000318220.6_Missense_Mutation_p.D388E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	444	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.		D -> E (in dbSNP:rs12043777). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)		p.D444E(1)		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)		ACAGAAGTGACTTTTACTCAT	0.453																																						.											1	Substitution - Missense(1)	prostate(1)						C	GLU/ASP	128,4248		35,58,2095	87	47	61		1332	-1.3	0	1	dbSNP_120	61	1540,6608		435,670,2969	no	missense	NBPF3	NM_032264.2	45	470,728,5064	GG,GC,CC		18.9003,2.925,13.3184	benign	444/634	21806667	1668,10856	2188	4074	6262	SO:0001583	missense	84224			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.1332C>G	1.37:g.21806667C>G	ENSP00000316782:p.Asp444Glu		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1	705	0.3228021978021978	55	0.11178861788617886	140	0.3867403314917127	235	0.41083916083916083	275	0.3627968337730871	.	1.891	-0.455414	0.04540	0.02925	0.189003	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.24823	0.0;0.112	B;B	0.25140	0.001;0.058	T	0.45279	-0.9272	7	0.52906	T	0.07	.	.	.	.	rs56119644	432;444	Q9H094-3;Q9H094	.;NBPF3_HUMAN	E	374;388;444;432;388	ENSP00000415711:D374E;ENSP00000316739:D388E;ENSP00000316782:D444E;ENSP00000340336:D432E;ENSP00000391865:D388E	ENSP00000316739:D388E	D	+	3	2	NBPF3	21679254	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.088000	0.14979	-0.800000	0.04433	0.121000	0.15741	GAC		0.453	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21806667	C	G	21806667	3	3	7	1	0	0	0	0	1	0	0	0	10197	564	20	5	1370	5	NBPF3	1	21806667	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	11442020	21806667	227443954	2	460											
BAT2L2	23215	broad.mit.edu	37	chr1	171484936	171484936	+	Frame_Shift_Del	DEL	A	A	-																															gcaggcagctggggatcaggAaaaaaaagaaaaggaaacaa																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:171484936delA	ENST00000338920.4	+	5	695	c.458delA	c.(457-459)gaafs	p.E153fs	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.E155fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.E155fs|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.E153fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	153					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GGGGATCAGGAAAAAAAAGAA	0.358																																						.											0													66	67	66					1																	171484936		2203	4300	6503	SO:0001589	frameshift_variant	23215			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.458delA	1.37:g.171484936delA	ENSP00000343629:p.Glu153fs		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	ENST00000338920.4	37	CCDS1296.2																																																																																				0.358	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		-	171484936	A	-	171484936	7	5	7	1	0	1	0	1	0	0	0	0	1321	246	9	0	472	0	BAT2L2	1	171484936	Frame_Shift_Del	DEL	A	TCGA-KL-8329-01A-11D-2310-10	149678269	171484936	77765685	3	461											
KIAA1614	57710	ucsc.edu	37	chr1	180905800	180905800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcccctggagaacagcAgagatggtaaggggctgccg	10	4	16	11	2	0	2	0	0	0	2	0	4	0	2	4	4	4	3	4	4	2	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:180905800A>G	ENST00000367588.4	+	5	2810	c.2755A>G	c.(2755-2757)Aga>Gga	p.R919G	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R540G	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	919										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGAACAGCAGAGATGGTAA	0.677																																						.											0													3	4	4					1																	180905800		1708	3808	5516	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2755A>G	1.37:g.180905800A>G	ENSP00000356560:p.Arg919Gly		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.499426	0.26861	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.27256	2.26;1.68	4.19	-0.27	0.12926	.	0.983219	0.08287	N	0.969066	T	0.12178	0.0296	N	0.19112	0.55	0.27723	N	0.945076	B	0.02656	0.0	B	0.04013	0.001	T	0.34551	-0.9824	9	0.21540	T	0.41	0.2422	0.4181	0.00452	0.3213:0.1535:0.2979:0.2274	.	919	Q5VZ46	K1614_HUMAN	G	919;540	ENSP00000356560:R919G;ENSP00000356559:R540G	ENSP00000356559:R540G	R	+	1	2	KIAA1614	179172423	0.000000	0.05858	0.000000	0.03702	0.708000	0.40852	-1.619000	0.02048	-0.279000	0.09167	0.459000	0.35465	AGA		0.677	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		G	180905800	A	G	180905800	3	3	7	1	0	0	0	0	1	0	0	0	8248	180	7	2	2773	2	KIAA1614	1	180905800	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	9420864	180905800	68344821	4	462											
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	11955246	11955246	+	Missense_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	atttctctactgttctgcccGtgccatcgggatggcggaca	6	12	11	12	3	2	0	0	0	2	0	4	2	2	2	2	3	3	1	2	3	1	3	rs398124543		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr2:11955246G>A	ENST00000256720.2	+	17	2267	c.2174G>A	c.(2173-2175)cGt>cAt	p.R725H	LPIN1_ENST00000396097.1_Missense_Mutation_p.R455H|LPIN1_ENST00000425416.2_Missense_Mutation_p.R731H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R767H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R810H|LPIN1_ENST00000404113.2_Missense_Mutation_p.R226H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	725	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)		TGTTCTGCCCGTGCCATCGGG	0.527																																						.											0													56	55	55					2																	11955246		2203	4300	6503	SO:0001583	missense	23175			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.2174G>A	2.37:g.11955246G>A	ENSP00000256720:p.Arg725His		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149073	0.94645	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.69	4.69	0.59074	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.94611	0.8263	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96308	0.9226	10	0.87932	D	0	-14.9771	17.6508	0.88163	0.0:0.0:1.0:0.0	.	226;810;725	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	H	810;767;731;725;455;226	ENSP00000397908:R810H;ENSP00000379406:R767H;ENSP00000401522:R731H;ENSP00000256720:R725H;ENSP00000379404:R455H;ENSP00000386120:R226H	ENSP00000256720:R725H	R	+	2	0	LPIN1	11872697	1.000000	0.71417	0.494000	0.27515	0.982000	0.71751	9.282000	0.95840	2.156000	0.67533	0.655000	0.94253	CGT		0.527	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11955246	G	A	11955246	3	1	7	1	0	0	0	0	1	0	0	0	8918	1145	40	1	2236	1	LPIN1	2	11955246	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10		11955246	231244127	5	463											
C2orf55	343990	broad.mit.edu	37	chr2	99449445	99449445	+	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	gaaagggcccggctgcccagCgtgcccctcgactccctagg	6	5	13	17	3	0	0	0	0	0	0	2	2	1	0	5	3	3	1	5	3	2	1	rs373720213		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr2:99449445C>T	ENST00000397899.2	-	4	586	c.255G>A	c.(253-255)acG>acA	p.T85T	KIAA1211L_ENST00000462314.1_Intron	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	85																	GGCTGCCCAGCGTGCCCCTCG	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		15890	0		0	False		,,,				2504	0					.											0								C		4,3854		0,4,1925	77	86	83		255	-9.9	0	2		83	0,8258		0,0,4129	no	coding-synonymous	C2orf55	NM_207362.2		0,4,6054	TT,TC,CC		0.0,0.1037,0.033		85/963	99449445	4,12112	1929	4129	6058	SO:0001819	synonymous_variant	343990			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.255G>A	2.37:g.99449445C>T				Silent	SNP	ENST00000397899.2	37	CCDS42720.1																																																																																				0.562	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		T	99449445	C	T	99449445	2	4	7	1	0	0	0	0	0	0	0	1	2176	755	27	1		1	C2orf55	2	99449445	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	87494199	99449445	143749928	6	464											
RBMS3	27303	broad.mit.edu	37	chr3	29925685	29925685	+	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	ttgacctatgaccccacagcTgccatacagaatgggtaagt	12	9	9	11	0	0	3	0	2	0	1	0	3	0	3	4	1	3	2	4	1	4	4			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:29925685T>G	ENST00000383767.2	+	8	1113	c.777T>G	c.(775-777)gcT>gcG	p.A259A	RBMS3_ENST00000273139.9_Silent_p.A259A|RBMS3_ENST00000383766.2_Silent_p.A258A|RBMS3_ENST00000452462.1_Silent_p.A259A|RBMS3_ENST00000434693.2_Silent_p.A258A|RBMS3_ENST00000445033.1_Silent_p.A259A|RBMS3_ENST00000456853.1_Silent_p.A272A|RBMS3_ENST00000396583.3_Silent_p.A272A			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	259					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ACCCCACAGCTGCCATACAGA	0.353																																						.											0													109	102	105					3																	29925685		2203	4300	6503	SO:0001819	synonymous_variant	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.777T>G	3.37:g.29925685T>G			A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	CCDS33724.1																																																																																				0.353	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		G	29925685	T	G	29925685	2	3	7	1	0	0	0	0	0	0	0	1	13150	1567	55	5		5	RBMS3	3	29925685	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10		29925685	168096745	7	465											
OR5H15	403274	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	97888186	97888186	+	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	tattcagcattgtgactattCttatatcttacacatttgtt	10	20	4	7	0	3	1	1	1	2	0	3	1	3	1	0	0	2	2	0	0	5	10			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:97888186C>G	ENST00000356526.2	+	1	643	c.643C>G	c.(643-645)Ctt>Gtt	p.L215V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGTGACTATTCTTATATCTTA	0.343																																						.											0													58	65	62					3																	97888186		2203	4300	6503	SO:0001583	missense	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.643C>G	3.37:g.97888186C>G	ENSP00000373195:p.Leu215Val			Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	4.264	0.048137	0.08243	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00051	8.81	2.48	0.494	0.16884	GPCR, rhodopsin-like superfamily (1);	0.171635	0.28026	N	0.016891	T	0.00144	0.0004	L	0.52759	1.655	0.09310	N	1	B	0.29671	0.254	B	0.37387	0.248	T	0.26360	-1.0105	10	0.59425	D	0.04	.	5.0095	0.14304	0.0:0.631:0.2238:0.1452	.	215	A6NDH6	O5H15_HUMAN	V	215	ENSP00000373195:L215V	ENSP00000373195:L215V	L	+	1	0	OR5H15	99370876	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-1.111000	0.03303	0.344000	0.23847	0.184000	0.17185	CTT		0.343	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			G	97888186	C	G	97888186	3	3	7	1	0	0	0	0	1	0	0	0	11161	913	32	5	645	5	OR5H15	3	97888186	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	67962501	97888186	100134244	8	466											
A4GNT	51146	mdanderson.org	37	chr3	137850003	137850003	+	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	tgggacttgaaagaaggcaaAcagaagaggcagctggactt	15	6	14	6	0	0	4	0	1	0	3	0	6	0	6	0	4	2	3	0	4	4	2	rs2724691	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:137850003A>G	ENST00000236709.3	-	2	297	c.96T>C	c.(94-96)tgT>tgC	p.C32C		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	32					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAGAAGGCAAACAGAAGAGGC	0.557													G|||	3075	0.614018	0.5946	0.719	5008	,	,		16574	0.5476		0.662	False		,,,				2504	0.5849					.											0								G		2648,1758	521.2+/-370.5	794,1060,349	85	84	84		96	3.6	0	3	dbSNP_100	84	5754,2846	447.4+/-361.5	1918,1918,464	no	coding-synonymous	A4GNT	NM_016161.2		2712,2978,813	GG,GA,AA		33.093,39.9001,35.399		32/341	137850003	8402,4604	2203	4300	6503	SO:0001819	synonymous_variant	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.96T>C	3.37:g.137850003A>G			Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	CCDS3097.1																																																																																				0.557	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		G	137850003	A	G	137850003	2	3	7	1	0	0	0	0	0	0	0	1	7	41	2	2		2	A4GNT	3	137850003	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	39961817	137850003	60172427	9	467											
PRR23A	729627	hgsc.bcm.edu;mdanderson.org	37	chr3	138724463	138724463	+	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	agaaggcggaattccgggtcGaagaaggggcctggagagtg	11	5	19	6	3	0	3	0	0	0	3	2	6	1	4	2	6	0	0	2	6	4	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:138724463G>A	ENST00000383163.2	-	1	647	c.648C>T	c.(646-648)ttC>ttT	p.F216F	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	216	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						ATTCCGGGTCGAAGAAGGGGC	0.662																																						.											0													32	39	37					3																	138724463		692	1591	2283	SO:0001819	synonymous_variant	729627				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.648C>T	3.37:g.138724463G>A				Silent	SNP	ENST00000383163.2	37	CCDS46923.1																																																																																				0.662	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		A	138724463	G	A	138724463	2	1	7	1	0	0	0	0	0	0	0	1	12594	1049	37	1		1	PRR23A	3	138724463	Silent	SNP	G	TCGA-KL-8329-01A-11D-2310-10	874460	138724463	59297967	10	468											
PAK2	5062	mdanderson.org	37	chr3	196529978	196529978	+	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	ctcaggctgtgctggatgtcCtaaagttctacgactccaac	9	11	9	12	1	2	0	1	0	1	0	4	2	4	1	2	2	3	3	2	2	4	3	rs79726945		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:196529978C>T	ENST00000327134.3	+	4	701	c.379C>T	c.(379-381)Cta>Tta	p.L127L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	127	Autoregulatory region. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		GCTGGATGTCCTAAAGTTCTA	0.453																																						.											0													106	93	98					3																	196529978		2203	4300	6503	SO:0001819	synonymous_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.379C>T	3.37:g.196529978C>T			Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																				0.453	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		T	196529978	C	T	196529978	2	4	7	1	0	0	0	0	0	0	0	1	11401	680	24	4		4	PAK2	3	196529978	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	57805515	196529978	1492452	11	469											
NOP14	8602	broad.mit.edu	37	chr4	2952919	2952919	+	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	tctgctgacatatgttttggTttcttaacattttcatcctc	7	20	5	9	0	3	1	1	1	2	0	5	1	4	1	1	1	2	3	1	1	2	7			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:2952919T>C	ENST00000314262.6	-	7	972	c.924A>G	c.(922-924)aaA>aaG	p.K308K	NOP14_ENST00000502735.1_Silent_p.K308K|NOP14_ENST00000398071.4_Silent_p.K308K|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Silent_p.K308K	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	308					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						TATGTTTTGGTTTCTTAACAT	0.403																																						.											0													251	241	244					4																	2952919		2203	4300	6503	SO:0001819	synonymous_variant	8602			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.924A>G	4.37:g.2952919T>C			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.403	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		C	2952919	T	C	2952919	2	2	7	1	0	0	0	0	0	0	0	1	10536	1722	60	2		2	NOP14	4	2952919	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10		2952919	188201357	12	470											
UGT2B28	54490	broad.mit.edu	37	chr4	70146674	70146674	+	Frame_Shift_Del	DEL	T	T	-																															gacatcatttttgcagatgcTttttttccttgtggtgagct																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:70146674delT	ENST00000335568.5	+	1	458	c.456delT	c.(454-456)gctfs	p.A152fs	UGT2B28_ENST00000511240.1_Frame_Shift_Del_p.A152fs	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	152					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGCAGATGCTTTTTTTCCTT	0.378																																						.											0													101	112	108					4																	70146674		2037	4235	6272	SO:0001589	frameshift_variant	54490			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.456delT	4.37:g.70146674delT	ENSP00000334276:p.Ala152fs		B5BUM0|Q9BY62|Q9BY63	Frame_Shift_Del	DEL	ENST00000335568.5	37	CCDS3528.1																																																																																				0.378	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		-	70146674	T	-	70146674	7	5	7	1	0	1	0	1	0	0	0	0	16957	1596	56	0	458	0	UGT2B28	4	70146674	Frame_Shift_Del	DEL	T	TCGA-KL-8329-01A-11D-2310-10	67193755	70146674	121007602	13	471											
CNOT6L	246175	mdanderson.org	37	chr4	78650048	78650048	+	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	agatctgcacatagcaccagCgggatggaattaggatctgc	12	8	12	9	1	2	1	0	0	2	1	2	4	2	4	1	3	4	2	1	3	3	2	rs199946358	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:78650048C>T	ENST00000504123.1	-	10	1342	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P	CNOT6L_ENST00000264903.4_Silent_p.P404P			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	404	Nuclease domain.				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						ATAGCACCAGCGGGATGGAAT	0.423													C|||	3	0.000599042	0.0023	0	5008	,	,		19748	0		0	False		,,,				2504	0					.											0								C		8,3758		0,8,1875	122	120	121		1212	4.7	1	4		121	0,8220		0,0,4110	no	coding-synonymous	CNOT6L	NM_144571.2		0,8,5985	TT,TC,CC		0.0,0.2124,0.0667		404/556	78650048	8,11978	1883	4110	5993	SO:0001819	synonymous_variant	246175			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.1212G>A	4.37:g.78650048C>T			Q9UF92	Silent	SNP	ENST00000504123.1	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	8.699	0.909296	0.17833	0.002124	0.0	ENSG00000138767	ENST00000515506	.	.	.	5.56	4.71	0.59529	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43278	-0.9401	4	.	.	.	-2.3006	4.5793	0.12252	0.192:0.5099:0.2233:0.0748	.	.	.	.	T	433	.	.	A	-	1	0	CNOT6L	78869072	0.930000	0.31532	1.000000	0.80357	0.998000	0.95712	0.063000	0.14410	2.627000	0.88993	0.563000	0.77884	GCT		0.423	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			T	78650048	C	T	78650048	2	4	7	1	0	0	0	0	0	0	0	1	3623	755	27	1		1	CNOT6L	4	78650048	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	8503374	78650048	112504228	14	472											
HERC5	51191	mdanderson.org	37	chr4	89380519	89380519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcattaaattaggaaaaaAcatgaagatacattccgtgg	18	10	8	5	1	0	2	0	1	0	1	1	3	1	3	1	2	3	1	1	2	8	4			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:89380519A>G	ENST00000264350.3	+	2	440	c.287A>G	c.(286-288)aAc>aGc	p.N96S	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	96					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)		TTAGGAAAAAACATGAAGATA	0.353																																					Esophageal Squamous(39;887 1012 34045 50514)	.											0													122	120	121					4																	89380519		2203	4300	6503	SO:0001583	missense	51191			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.287A>G	4.37:g.89380519A>G	ENSP00000264350:p.Asn96Ser		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	a	9.031	0.987277	0.18889	.	.	ENSG00000138646	ENST00000264350	T	0.80824	-1.42	3.62	3.62	0.41486	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.233755	0.27595	N	0.018671	T	0.67268	0.2875	L	0.31371	0.925	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.60835	-0.7184	10	0.19147	T	0.46	.	10.6203	0.45476	1.0:0.0:0.0:0.0	.	96	Q9UII4	HERC5_HUMAN	S	96	ENSP00000264350:N96S	ENSP00000264350:N96S	N	+	2	0	HERC5	89599542	0.786000	0.28738	0.999000	0.59377	0.700000	0.40528	2.129000	0.42055	1.894000	0.54839	0.529000	0.55759	AAC		0.353	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		G	89380519	A	G	89380519	3	3	7	1	0	0	0	0	1	0	0	0	7061	43	2	2	293	2	HERC5	4	89380519	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	10730471	89380519	101773757	15	473											
DCHS2	54798	broad.mit.edu;ucsc.edu	37	chr4	155219313	155219313	+	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	acagttgtctggtttgtaggCgactcgggggaaagaaacac	11	9	14	7	2	1	1	0	0	1	1	2	3	1	2	0	4	1	3	0	4	3	3	rs142512414		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:155219313C>T	ENST00000357232.4	-	18	4787	c.4788G>A	c.(4786-4788)tcG>tcA	p.S1596S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1596	Cadherin 14. {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)		GGTTTGTAGGCGACTCGGGGG	0.423																																						.											0								C		1,4405	2.1+/-5.4	0,1,2202	87	89	88		4788	-8.5	0	4	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	DCHS2	NM_017639.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1596/2917	155219313	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54798			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		ENST00000357232.4:c.4788G>A	4.37:g.155219313C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155219313	C	T	155219313	2	4	7	1	0	0	0	0	0	0	0	1	4288	755	27	1		1	DCHS2	4	155219313	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	65838794	155219313	35934963	16	474											
SDHA	6389	mdanderson.org	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-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:236628C>T	ENST00000264932.6	+	10	1461	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	SDHA_ENST00000510361.1_Missense_Mutation_p.A401V|SDHA_ENST00000504309.1_Missense_Mutation_p.A449V	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					.											0													81	74	77					5																	236628		2203	4300	6503	SO:0001583	missense	6389	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	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		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	7	1	0	0	0	0	1	0	0	0	13963	739	26	3	1384	3	SDHA	5	236628	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10		236628	180678632	17	475											
SCAMP1	9522	broad.mit.edu;mdanderson.org	37	chr5	77745782	77745782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagttcatttagattctttGtattcttcttcgtctatatt	8	22	4	7	1	5	1	1	0	4	1	6	1	5	1	0	0	0	2	0	0	4	12			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:77745782G>T	ENST00000538629.1	+	7	815	c.658G>T	c.(658-660)Gta>Tta	p.V220L	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	220					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TAGATTCTTTGTATTCTTCTT	0.343																																						.											0													154	146	149					5																	77745782		1817	4070	5887	SO:0001583	missense	9522			AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"Secretory carrier membrane proteins"	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.658G>T	5.37:g.77745782G>T	ENSP00000475496:p.Val220Leu		O43587|Q6FG23|Q96BX1|Q96QK5	Missense_Mutation	SNP	ENST00000538629.1	37																																																																																					0.343	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004866		T	77745782	G	T	77745782	3	4	7	1	0	0	0	0	1	0	0	0	13870	1377	48	5	684	5	SCAMP1	5	77745782	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	77509154	77745782	103169478	18	476											
TTC37	9652	broad.mit.edu	37	chr5	94830430	94830430	+	Frame_Shift_Del	DEL	T	T	-																															gaatggtctttagtgcagtaTttttttcatcttctgctgaa																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:94830430delT	ENST00000358746.2	-	36	4056	c.3758delA	c.(3757-3759)aatfs	p.N1253fs		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1253						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						TAGTGCAGTATTTTTTTCATC	0.343																																						.											0													191	191	191					5																	94830430		2203	4300	6503	SO:0001589	frameshift_variant	9652			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.3758delA	5.37:g.94830430delT	ENSP00000351596:p.Asn1253fs		O15077|Q6PJI3	Frame_Shift_Del	DEL	ENST00000358746.2	37	CCDS4072.1																																																																																				0.343	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		-	94830430	T	-	94830430	7	5	7	1	0	1	0	1	0	0	0	0	16702	1493	52	0	968	0	TTC37	5	94830430	Frame_Shift_Del	DEL	T	TCGA-KL-8329-01A-11D-2310-10	17084648	94830430	86084830	19	477											
FAM13B	51306	broad.mit.edu	37	chr5	137278834	137278834	+	Frame_Shift_Del	DEL	A	A	-																															aggattaccttgatttcttcAaaaaaatgtgcagtttctcc																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:137278834delA	ENST00000033079.3	-	20	2797	c.2346delT	c.(2344-2346)tttfs	p.F782fs	FAM13B_ENST00000425075.2_Frame_Shift_Del_p.F658fs|FAM13B_ENST00000420893.2_Frame_Shift_Del_p.F754fs	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	782					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TGATTTCTTCAAAAAAATGTG	0.353																																						.											0													100	102	101					5																	137278834		2203	4300	6503	SO:0001589	frameshift_variant	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2346delT	5.37:g.137278834delA	ENSP00000033079:p.Phe782fs		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Frame_Shift_Del	DEL	ENST00000033079.3	37	CCDS4195.1																																																																																				0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			-	137278834	A	-	137278834	7	5	7	1	0	1	0	1	0	0	0	0	5453	127	5	0	417	0	FAM13B	5	137278834	Frame_Shift_Del	DEL	A	TCGA-KL-8329-01A-11D-2310-10	42448404	137278834	43636426	20	478											
PCDHA8	56140	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	140221090	140221090	+	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	agctggcggagctggtgccgCgcctgttccgggtggcgtcc	2	8	18	13	5	0	0	0	0	0	0	2	1	2	1	4	5	3	3	4	5	0	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:140221090C>T	ENST00000531613.1	+	1	184	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R62C|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGCCGCGCCTGTTCCG	0.637																																						.											0													38	52	47					5																	140221090		2203	4296	6499	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.184C>T	5.37:g.140221090C>T	ENSP00000434655:p.Arg62Cys		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191550	0.58017	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.42131	0.98;0.98	3.95	3.0	0.34707	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.34411	U	0.003997	T	0.69097	0.3073	H	0.98965	4.385	0.24184	N	0.995573	D;D	0.65815	0.995;0.994	P;P	0.52454	0.699;0.574	T	0.69691	-0.5077	10	0.87932	D	0	.	11.4118	0.49929	0.3094:0.6906:0.0:0.0	.	62;62	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	C	62	ENSP00000434655:R62C;ENSP00000367363:R62C	ENSP00000367363:R62C	R	+	1	0	PCDHA8	140201274	0.010000	0.17322	1.000000	0.80357	0.983000	0.72400	0.201000	0.17276	1.905000	0.55150	0.557000	0.71058	CGC		0.637	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140221090	C	T	140221090	3	4	7	1	0	0	0	0	1	0	0	0	11530	768	27	1	186	1	PCDHA8	5	140221090	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	2942256	140221090	40694170	21	479											
LARP1	23367	bcgsc.ca	37	chr5	154173805	154173820	+	Frame_Shift_Del	DEL	ACTACATCAAGCGCCA	ACTACATCAAGCGCCA	-																															gatcaggaactgctcaaagaCtacatcaagcgccagatgtg																								rs144538564		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	ACTACATCAAGCGCCA	ACTACATCAAGCGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:154173805_154173820delACTACATCAAGCGCCA	ENST00000336314.4	+	7	1008_1023	c.984_999delACTACATCAAGCGCCA	c.(982-999)gaactacatcaagcgccafs	p.ELHQAP328fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	405					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCTCAAAGACTACATCAAGCGCCAGATGTGAGTGT	0.519																																						.											0																																										SO:0001589	frameshift_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.984_999delACTACATCAAGCGCCA	5.37:g.154173805_154173820delACTACATCAAGCGCCA	ENSP00000336721:p.Glu328fs		O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																				0.519	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		-	154173820	ACTACATCAAGCGCCA	-	154173805	7	5	7	1	0	1	0	1	0	0	0	0	8628	564	20	0	1010	0	LARP1	5	154173805	Frame_Shift_Del	DEL	ACTACATCAAGCGCCA	TCGA-KL-8329-01A-11D-2310-10	13952715	154173805	26741455	22	480											
HLA-B	3106	mdanderson.org	37	chr6	31324911	31324911	+	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	cgccgagagcagcaggaggaCggttcggggcgccatgacca	9	3	17	12	5	0	2	0	1	0	1	1	5	0	4	3	5	2	3	3	5	0	1	rs1050462	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:31324911C>G	ENST00000412585.2	-	1	53	c.25G>C	c.(25-27)Gtc>Ctc	p.V9L		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	9			V -> L (in dbSNP:rs1050462).		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGCAGGAGGACGGTTCGGGGC	0.692									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	1155	0.230631	0.1233	0.245	5008	,	,		8959	0.25		0.3062	False		,,,				2504	0.2679					.											0								C	LEU/VAL	238,3960		11,216,1872	13	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	25	2.5	0.1	6	dbSNP_86	12	981,7141		59,863,3139	yes	missense	HLA-B	NM_005514.6	32	70,1079,5011	GG,GC,CC		12.0783,5.6694,9.8945		9/363	31324911	1219,11101	2099	4061	6160	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.25G>C	6.37:g.31324911C>G	ENSP00000399168:p.Val9Leu		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	494	0.2261904761904762	61	0.12398373983739837	84	0.23204419889502761	135	0.23601398601398602	214	0.28232189973614774	N	8.101	0.776701	0.16120	0.056694	0.120783	ENSG00000234745	ENST00000412585	T	0.00597	6.31	3.34	2.47	0.30058	.	0.330918	0.16642	N	0.205609	T	0.00109	0.0003	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.12400	-1.0549	8	0.02654	T	1	.	8.6444	0.33996	0.0:0.237:0.763:0.0	rs1050462;rs2308334;rs3177903;rs3190781;rs9266204;rs17416898;rs17840061	9	P01889	1B07_HUMAN	L	9	ENSP00000399168:V9L	ENSP00000399168:V9L	V	-	1	0	HLA-B	31432890	0.007000	0.16637	0.054000	0.19295	0.040000	0.13550	0.447000	0.21710	0.756000	0.33013	-0.435000	0.05868	GTC		0.692	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		G	31324911	C	G	31324911	3	3	7	1	0	0	0	0	1	0	0	0	7196	536	19	5	1091	5	HLA-B	6	31324911	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10		31324911	139790156	23	481			1	3		2	2	21	N	C_A	6.525025e-05
HLA-B	3106	bcgsc.ca	37	chr6	31324931	31324931	+	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	cggttcggggcgccatgaccAgcatctcggcgtctgaggag	6	7	16	12	5	2	2	0	2	2	0	4	3	2	3	2	5	1	2	2	5	0	1	rs151341074|rs9266206	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:31324931A>C	ENST00000412585.2	-	1	33	c.5T>G	c.(4-6)cTg>cGg	p.L2R		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	2					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CGCCATGACCAGCATCTCGGC	0.647									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	3976	0.79393	0.7958	0.732	5008	,	,		9657	0.8462		0.7197	False		,,,				2504	0.8579					.											0													14	12	13					6																	31324931		2093	4077	6170	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.5T>G	6.37:g.31324931A>C	ENSP00000399168:p.Leu2Arg		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	1641	0.7513736263736264	370	0.7520325203252033	254	0.7016574585635359	484	0.8461538461538461	533	0.7031662269129287	N	5.499	0.276991	0.10403	.	.	ENSG00000234745	ENST00000412585	T	0.00612	6.22	3.34	-2.25	0.06888	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14727	-1.0462	7	0.16896	T	0.51	.	3.3191	0.07044	0.4438:0.2616:0.0:0.2946	rs9266206	2	P01889	1B07_HUMAN	R	2	ENSP00000399168:L2R	ENSP00000399168:L2R	L	-	2	0	HLA-B	31432910	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.210000	0.02999	-1.187000	0.02709	-1.627000	0.00785	CTG		0.647	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		C	31324931	A	C	31324931	3	2	7	1	0	0	0	0	1	0	0	0	7196	188	7	5	1111	5	HLA-B	6	31324931	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	20	31324931	139790136	24	482			1	3		2	2	21	N	C_A	6.525025e-05
HLA-DRB5	3127	mdanderson.org	37	chr6	32497931	32497931	+	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	ccccagccaaagccagtgggGagctcagcaccatcagtgtc	10	5	11	15	0	2	0	2	0	0	0	3	1	2	1	5	2	4	2	5	2	1	0	rs147565130	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:32497931G>A	ENST00000374975.3	-	1	133	c.71C>T	c.(70-72)tCc>tTc	p.S24F		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGCCAGTGGGGAGCTCAGCAC	0.557																																						.											0													96	100	99					6																	32497931		2203	4300	6503	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.71C>T	6.37:g.32497931G>A	ENSP00000364114:p.Ser24Phe			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	11.29	1.594048	0.28445	.	.	ENSG00000198502	ENST00000374975	T	0.00267	8.38	4.32	1.46	0.22682	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.00073	0.0002	L	0.52905	1.665	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.37454	-0.9705	9	0.62326	D	0.03	.	6.5543	0.22452	0.3227:0.0:0.6773:0.0	.	24	Q30154	DRB5_HUMAN	F	24	ENSP00000364114:S24F	ENSP00000364114:S24F	S	-	2	0	HLA-DRB5	32605909	0.001000	0.12720	0.035000	0.18076	0.177000	0.22998	1.003000	0.29809	0.461000	0.27071	0.485000	0.47835	TCC		0.557	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		A	32497931	G	A	32497931	3	1	7	1	0	0	0	0	1	0	0	0	7209	1174	41	3	753	3	HLA-DRB5	6	32497931	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	1173000	32497931	138617136	25	483											
CDKN1A	1026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	36652171	36652171	+	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	aggcaggcggcctggcacctCacctgctctgctgcagggga	6	6	15	14	1	2	0	1	0	1	0	2	1	2	1	3	6	3	5	3	6	0	0			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:36652171C>A	ENST00000405375.1	+	2	528	c.293C>A	c.(292-294)tCa>tAa	p.S98*	CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.S132*|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.S98*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.S98*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	98					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCTGGCACCTCACCTGCTCTG	0.672																																						.											0													32	32	32					6																	36652171		2203	4300	6503	SO:0001587	stop_gained	1026			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.293C>A	6.37:g.36652171C>A	ENSP00000384849:p.Ser98*		Q14010|Q6FI05|Q9BUT4	Nonsense_Mutation	SNP	ENST00000405375.1	37	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316242	0.40996	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	.	.	.	5.23	5.23	0.72850	.	0.000000	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-11.3875	14.1752	0.65537	0.0:1.0:0.0:0.0	.	.	.	.	X	132;98;98;98	.	ENSP00000244741:S98X	S	+	2	0	CDKN1A	36760149	0.052000	0.20516	0.063000	0.19743	0.107000	0.19398	2.394000	0.44450	2.724000	0.93272	0.561000	0.74099	TCA		0.672	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		A	36652171	C	A	36652171	4	1	7	1	0	0	0	0	0	1	0	0	3158	838	29	5	295	5	CDKN1A	6	36652171	Nonsense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	4154240	36652171	134462896	26	484											
AKAP12	9590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr6	151671482	151671482	+	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	accgagagcacagcctctgaAatgcaagaagaaatgaaagg	18	4	11	8	1	1	5	0	2	1	3	1	6	1	5	2	1	3	2	2	1	5	0			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:151671482A>G	ENST00000253332.1	+	3	2145	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E	AKAP12_ENST00000402676.2_Silent_p.E652E|AKAP12_ENST00000359755.5_Silent_p.E547E|AKAP12_ENST00000354675.6_Silent_p.E554E			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	652					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)		CAGCCTCTGAAATGCAAGAAG	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)	.											0													73	71	72					6																	151671482		2203	4300	6503	SO:0001819	synonymous_variant	9590			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.1956A>G	6.37:g.151671482A>G			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151671482	A	G	151671482	2	3	7	1	0	0	0	0	0	0	0	1	448	11	1	4		4	AKAP12	6	151671482	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	115019311	151671482	19443585	27	485											
FAM120B	84498	broad.mit.edu;hgsc.bcm.edu	37	chr6	170627576	170627576	+	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	gaatccaggcgagaagttccCgtgtatacagattctgaacc	12	9	10	10	2	1	3	0	1	1	2	3	5	3	3	3	1	2	2	3	1	5	4	rs542443578		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:170627576C>T	ENST00000476287.1	+	2	1206	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Silent_p.P389P|FAM120B_ENST00000540480.1_Silent_p.P378P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	366					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGAAGTTCCCGTGTATACAG	0.532																																						.											0													154	163	160					6																	170627576		2203	4300	6503	SO:0001819	synonymous_variant	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1098C>T	6.37:g.170627576C>T			B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	CCDS5314.1																																																																																				0.532	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		T	170627576	C	T	170627576	2	4	7	1	0	0	0	0	0	0	0	1	5417	639	23	1		1	FAM120B	6	170627576	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	18956094	170627576	487491	28	486											
HIBADH	11112	broad.mit.edu	37	chr7	27672041	27672041	+	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	attctgtcagctttttcagcAacatctgctggggaagatac	10	13	9	9	0	4	1	2	0	2	1	4	2	4	2	0	2	5	3	0	2	3	4			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:27672041A>G	ENST00000265395.2	-	3	482	c.276T>C	c.(274-276)gtT>gtC	p.V92V		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	92					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CTTTTTCAGCAACATCTGCTG	0.353																																						.											0													127	121	123					7																	27672041		2203	4300	6503	SO:0001819	synonymous_variant	11112			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.276T>C	7.37:g.27672041A>G			Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	A	9.560	1.118239	0.20877	.	.	ENSG00000106049	ENST00000425715	.	.	.	5.8	3.36	0.38483	.	.	.	.	.	T	0.47002	0.1422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32745	-0.9895	4	.	.	.	-15.8862	3.5762	0.07936	0.1389:0.07:0.1355:0.6556	.	.	.	.	S	35	.	.	L	-	2	0	HIBADH	27638566	0.885000	0.30320	1.000000	0.80357	0.995000	0.86356	-0.081000	0.11321	0.424000	0.26061	-0.347000	0.07816	TTG		0.353	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		G	27672041	A	G	27672041	2	3	7	1	0	0	0	0	0	0	0	1	7099	117	5	4		4	HIBADH	7	27672041	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10		27672041	131466622	29	487											
KRIT1	889	hgsc.bcm.edu;ucsc.edu	37	chr7	91851360	91851360	+	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	ggtttatgatatggtttgagTtgaaggcctgaaaaacatca	13	13	11	4	0	1	4	1	4	0	0	1	4	1	4	1	3	1	3	1	3	5	5			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:91851360T>C	ENST00000340022.2	-	14	2437	c.1419A>G	c.(1417-1419)caA>caG	p.Q473Q	KRIT1_ENST00000394505.2_Silent_p.Q473Q|KRIT1_ENST00000394503.2_Silent_p.Q425Q|KRIT1_ENST00000412043.2_Silent_p.Q473Q|KRIT1_ENST00000394507.1_Silent_p.Q473Q	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	473	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGGTTTGAGTTGAAGGCCTG	0.348																																						.											0													101	101	101					7																	91851360		2203	4300	6503	SO:0001819	synonymous_variant	889			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1419A>G	7.37:g.91851360T>C			A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	CCDS5624.1																																																																																				0.348	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			C	91851360	T	C	91851360	2	2	7	1	0	0	0	0	0	0	0	1	8445	1722	60	2		2	KRIT1	7	91851360	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10	64179319	91851360	67287303	30	488											
MUC17	140453	mdanderson.org	37	chr7	100684573	100684573	+	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	atgcctgtcagcaccacaacGgtggccagttctgaaacgag	11	7	11	12	2	2	1	1	1	1	0	2	2	2	1	3	2	4	2	3	2	2	1	rs144023476	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:100684573G>A	ENST00000306151.4	+	3	9940	c.9876G>A	c.(9874-9876)acG>acA	p.T3292T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3292	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)					GCACCACAACGGTGGCCAGTT	0.512													G|||	172	0.034345	0.0688	0.0072	5008	,	,		27204	0.0298		0.0149	False		,,,				2504	0.0317					.											0								G		35,4371	28.1+/-56.4	2,31,2170	331	330	330		9876	-2.6	0	7	dbSNP_134	330	5,8595	2.2+/-6.3	0,5,4295	no	coding-synonymous	MUC17	NM_001040105.1		2,36,6465	AA,AG,GG		0.0581,0.7944,0.3076		3292/4494	100684573	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	140453			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.9876G>A	7.37:g.100684573G>A			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684573	G	A	100684573	2	1	7	1	0	0	0	0	0	0	0	1	9974	1103	39	1		1	MUC17	7	100684573	Silent	SNP	G	TCGA-KL-8329-01A-11D-2310-10	8833213	100684573	58454090	31	489											
PRSS1	5644	mdanderson.org	37	chr7	142458542	142458542	+	Silent	SNP	A	A	G																															atcaacgaacagtgggtggtAtcagcaggccactgctacaa																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:142458542A>G	ENST00000311737.7	+	2	183	c.177A>G	c.(175-177)gtA>gtG	p.V59V	PRSS1_ENST00000486171.1_Silent_p.V59V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	AGTGGGTGGTATCAGCAGGCC	0.582																																						.											0													83	86	85					7																	142458542		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.177A>G	7.37:g.142458542A>G			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.582	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142458542	A	G	142458542	2	3	7	1	0	0	0	0	0	0	0	1	12614	436	16	4		4	PRSS1	7	142458542	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	41773969	142458542	16680121	32	490	11	2									
PRSS1	5644	mdanderson.org	37	chr7	142458551	142458551	+	Silent	SNP	C	C	T																															cagtgggtggtatcagcaggCcactgctacaagtcgtaagt																								rs199713773		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:142458551C>T	ENST00000311737.7	+	2	192	c.186C>T	c.(184-186)ggC>ggT	p.G62G	PRSS1_ENST00000486171.1_Silent_p.G62G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	62	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TATCAGCAGGCCACTGCTACA	0.582																																						.											0																																										SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.186C>T	7.37:g.142458551C>T			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.582	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			T	142458551	C	T	142458551	2	4	7	1	0	0	0	0	0	0	0	1	12614	726	26	3		3	PRSS1	7	142458551	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	9	142458551	16680112	33	491	11	2									
PABPC1	26986	mdanderson.org	37	chr8	101724606	101724606	+	Missense_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	ttacctttgcactagtgattGtaccaaatggagaaaactct	13	13	7	8	0	1	2	0	1	1	1	1	3	1	2	2	1	4	2	2	1	6	5	rs202060459		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	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)	p.T319I(2)		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)			ACTAGTGATTGTACCAAATGG	0.284																																						.											2	Substitution - Missense(2)	kidney(1)|endometrium(1)											154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986			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.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	7	1	0	0	0	0	1	0	0	0	11363	1377	48	4	986	4	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10		101724606	44639416	34	492											
SPATC1	375686	broad.mit.edu	37	chr8	145095684	145095685	+	Frame_Shift_Ins	INS	-	-	C																															tgtccccacctcccccaccaINScctcccccacggtcaccgtc																								rs564781160	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr8:145095684_145095685insC	ENST00000377470.3	+	3	1084_1085	c.982_983insC	c.(982-984)accfs	p.T328fs	SPATC1_ENST00000447830.2_Frame_Shift_Ins_p.T328fs	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	328						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ctcccccaccacctcccccacg	0.668																																						.											0																																										SO:0001589	frameshift_variant	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.984dupC	8.37:g.145095686_145095686dupC	ENSP00000366690:p.Thr328fs		B4DWW9|Q5U5I8|Q7Z6L7	Frame_Shift_Ins	INS	ENST00000377470.3	37	CCDS6413.2																																																																																				0.668	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		C	145095685	-	C	145095684	7	5	7	1	0	1	1	0	0	0	0	0	15016	159	6	0	992	0	SPATC1	8	145095684	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	43371078	145095684	1268338	35	493											
PLAA	9373	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	26905845	26905845	+	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	ttcagttctattgcatgggaCatcagtgattccctctggga	8	14	10	9	0	4	1	2	1	2	0	5	3	5	3	1	2	1	2	1	2	1	5			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:26905845C>T	ENST00000397292.3	-	14	2469	c.2052G>A	c.(2050-2052)atG>atA	p.M684I		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	684	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTGCATGGGACATCAGTGATT	0.433																																					Melanoma(175;2670 2735 14091 35526)	.											0													108	99	102					9																	26905845		2203	4300	6503	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2052G>A	9.37:g.26905845C>T	ENSP00000380460:p.Met684Ile		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618083	0.28801	.	.	ENSG00000137055	ENST00000397292	T	0.39997	1.05	6.07	2.18	0.27775	PUL (2);	0.415874	0.33419	N	0.004929	T	0.14570	0.0352	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04017	-1.0984	10	0.30854	T	0.27	-1.6509	5.2914	0.15729	0.1323:0.6012:0.0:0.2664	.	684	Q9Y263	PLAP_HUMAN	I	684	ENSP00000380460:M684I	ENSP00000380460:M684I	M	-	3	0	PLAA	26895845	0.996000	0.38824	0.994000	0.49952	0.995000	0.86356	0.479000	0.22228	0.435000	0.26365	-0.140000	0.14226	ATG		0.433	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		T	26905845	C	T	26905845	3	4	7	1	0	0	0	0	1	0	0	0	12011	478	17	4	339	4	PLAA	9	26905845	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10		26905845	114307586	36	494											
KIF24	347240	mdanderson.org	37	chr9	34310782	34310782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgagagattctttgaataAtgggaatatcacaatccccc	14	11	7	9	0	2	3	1	2	1	1	3	5	3	4	2	1	0	0	2	1	5	4			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:34310782A>G	ENST00000402558.2	-	1	587	c.563T>C	c.(562-564)aTt>aCt	p.I188T	KIF24_ENST00000379166.2_Missense_Mutation_p.I188T|KIF24_ENST00000345050.2_Missense_Mutation_p.I188T|KIF24_ENST00000379174.3_Missense_Mutation_p.I188T			Q5T7B8	KIF24_HUMAN	kinesin family member 24	188					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)			TCTTTGAATAATGGGAATATC	0.368																																						.											0													140	134	136					9																	34310782		1844	4097	5941	SO:0001583	missense	347240			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.563T>C	9.37:g.34310782A>G	ENSP00000384433:p.Ile188Thr		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845864	0.32606	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.72394	-0.41;-0.65;-0.41;-0.65	5.48	1.37	0.22104	.	0.756495	0.11337	N	0.574500	T	0.61261	0.2333	L	0.50333	1.59	0.21841	N	0.999512	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.52961	-0.8505	10	0.49607	T	0.09	.	6.6848	0.23138	0.7316:0.0:0.1496:0.1188	.	188;188	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	T	188	ENSP00000384433:I188T;ENSP00000368472:I188T;ENSP00000368464:I188T;ENSP00000340179:I188T	ENSP00000340179:I188T	I	-	2	0	KIF24	34300782	0.691000	0.27709	0.986000	0.45419	0.971000	0.66376	1.175000	0.31944	0.368000	0.24481	-0.280000	0.10049	ATT		0.368	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			G	34310782	A	G	34310782	3	3	7	1	0	0	0	0	1	0	0	0	8292	101	4	4	3591	4	KIF24	9	34310782	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	7404937	34310782	106902649	37	495											
CNTNAP3	79937	broad.mit.edu	37	chr9	39178299	39178299	+	Frame_Shift_Del	DEL	T	T	-																															tctcttattggttttaaaggTtttttatcaagtctatacag																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:39178299delT	ENST00000297668.6	-	5	670	c.597delA	c.(595-597)aaafs	p.K199fs	CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.K199fs|CNTNAP3_ENST00000323947.7_Frame_Shift_Del_p.K199fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.K199fs|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.K111fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	199	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTTTAAAGGTTTTTTATCAA	0.313																																						.											0													83	92	89					9																	39178299		2202	4294	6496	SO:0001589	frameshift_variant	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.597delA	9.37:g.39178299delT	ENSP00000297668:p.Lys199fs		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	CCDS6616.1																																																																																				0.313	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		-	39178299	T	-	39178299	7	5	7	1	0	1	0	1	0	0	0	0	3648	1722	60	0	3349	0	CNTNAP3	9	39178299	Frame_Shift_Del	DEL	T	TCGA-KL-8329-01A-11D-2310-10	4867517	39178299	102035132	38	496											
C9orf79	286234	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr9	90502738	90502738	+	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	gtggactcagaggagcagctGccaggccgtgccccgggcat	7	5	16	13	2	1	1	1	0	0	1	1	3	1	3	4	4	4	3	4	4	0	0			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:90502738G>T	ENST00000325643.5	+	4	3402	c.3336G>T	c.(3334-3336)ctG>ctT	p.L1112L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1112					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGAGCAGCTGCCAGGCCGTG	0.637																																						.											0													36	39	38					9																	90502738		2203	4300	6503	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3336G>T	9.37:g.90502738G>T			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																				0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90502738	G	T	90502738	2	4	7	1	0	0	0	0	0	0	0	1	2497	1306	46	5		5	C9orf79	9	90502738	Silent	SNP	G	TCGA-KL-8329-01A-11D-2310-10	51324439	90502738	50710693	39	497											
KIAA1529	100499483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	100126382	100126382	+	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	tggagagaaagtaccgggtgCttggggacaagcctccccct	9	7	14	11	1	0	1	0	0	0	1	1	4	1	3	4	4	3	2	4	4	3	2			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:100126382C>T	ENST00000357054.1	+	41	4854	c.3919C>T	c.(3919-3921)Ctt>Ttt	p.L1307F	CCDC180_ENST00000529487.1_Missense_Mutation_p.L1362F|MIR1302-8_ENST00000408342.1_RNA|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.L1362F|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1307						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTACCGGGTGCTTGGGGACAA	0.557																																						.											0													58	51	54					9																	100126382		2203	4300	6503	SO:0001583	missense	100499483			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.3919C>T	9.37:g.100126382C>T	ENSP00000349562:p.Leu1307Phe		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	C	6.712	0.500137	0.12762	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.05717	3.4;3.46;3.46	4.72	3.81	0.43845	.	0.225624	0.34362	N	0.004021	T	0.04407	0.0121	L	0.35288	1.05	0.80722	D	1	B;B	0.23854	0.043;0.092	B;B	0.20184	0.019;0.028	T	0.35351	-0.9792	10	0.10111	T	0.7	-12.1648	7.8778	0.29603	0.0:0.8917:0.0:0.1083	.	1501;1307	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	F	1307;1362;1362	ENSP00000349562:L1307F;ENSP00000364348:L1362F;ENSP00000434727:L1362F	ENSP00000349562:L1307F	L	+	1	0	C9orf174	99166203	0.981000	0.34729	0.992000	0.48379	0.518000	0.34316	1.281000	0.33214	2.560000	0.86352	0.655000	0.94253	CTT		0.557	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		T	100126382	C	T	100126382	3	4	7	1	0	0	0	0	1	0	0	0	8240	797	28	4	4037	4	KIAA1529	9	100126382	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	9623644	100126382	41087049	40	498											
OR13C5	138799	mdanderson.org	37	chr9	107361111	107361111	+	Missense_Mutation	SNP	T	T	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	tcacaagcaggatgaactcaTtgcctgagatgtcagcacag	13	8	10	10	0	3	2	3	2	0	1	3	4	3	3	1	1	4	2	1	1	2	1	rs6479259	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:107361111T>C	ENST00000374779.2	-	1	677	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	195			N -> S (in dbSNP:rs6479259).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GATGAACTCATTGCCTGAGAT	0.373													T|||	669	0.133586	0.3676	0.0504	5008	,	,		24620	0.0704		0.007	False		,,,				2504	0.0716					.											0								T	SER/ASN	1329,3077	446.5+/-348.0	197,935,1071	191	175	180		584	-4.1	0	9	dbSNP_116	180	35,8565	24.0+/-70.4	0,35,4265	yes	missense	OR13C5	NM_001004482.1	46	197,970,5336	CC,CT,TT		0.407,30.1634,10.4875	probably-damaging	195/319	107361111	1364,11642	2203	4300	6503	SO:0001583	missense	138799				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.584A>G	9.37:g.107361111T>C	ENSP00000363911:p.Asn195Ser		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	202	0.0924908424908425	155	0.3150406504065041	8	0.022099447513812154	35	0.06118881118881119	4	0.005277044854881266	T	15.48	2.846604	0.51164	0.301634	0.00407	ENSG00000255800	ENST00000374779	T	0.00211	8.54	4.17	-4.11	0.03928	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001380	T	0.00012	0.0000	L	0.58101	1.795	0.80722	P	0.0	D	0.59357	0.985	D	0.63283	0.913	T	0.43442	-0.9391	9	0.62326	D	0.03	.	10.4853	0.44717	0.6686:0.0:0.0:0.3314	rs6479259;rs52801984;rs6479259	195	Q8NGS8	O13C5_HUMAN	S	195	ENSP00000363911:N195S	ENSP00000363911:N195S	N	-	2	0	OR13C5	106400932	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.658000	0.05329	-1.031000	0.03308	0.433000	0.28618	AAT		0.373	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		C	107361111	T	C	107361111	3	2	7	1	0	0	0	0	1	0	0	0	10937	1493	52	4	374	4	OR13C5	9	107361111	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	7234729	107361111	33852320	41	499											
ZNF462	58499	broad.mit.edu	37	chr9	109690574	109690575	+	Frame_Shift_Ins	INS	-	-	C																															aagcctgcagctagcttcagINSccaaccccgccatatcctcc																								rs76760064		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:109690574_109690575insC	ENST00000277225.5	+	3	4670_4671	c.4381_4382insC	c.(4381-4383)gccfs	p.A1461fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.A306fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.A1461fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1461					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						GCTAGCTTCAGCCAACCCCGCC	0.52																																						.											0																																										SO:0001589	frameshift_variant	58499			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.4383dupC	9.37:g.109690576_109690576dupC	ENSP00000277225:p.Ala1461fs		Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	CCDS35096.1																																																																																				0.52	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		C	109690575	-	C	109690574	7	5	7	1	0	1	1	0	0	0	0	0	17923	971	34	0	4387	0	ZNF462	9	109690574	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	2329463	109690574	31522857	42	500											
COL27A1	85301	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	117052528	117052528	+	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	tgcaggggctgccagggcccCggggcgtggtggggagacag	5	4	22	10	2	0	1	0	0	0	1	0	2	0	1	3	8	2	2	3	8	0	0	rs200170613		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:117052528C>T	ENST00000356083.3	+	47	4676	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1429	Collagen-like 13.|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						GCCAGGGCCCCGGGGCGTGGT	0.692													C|||	1	0.000199681	0	0	5008	,	,		12464	0		0	False		,,,				2504	0.001					.											0								C	TRP/ARG	0,4344		0,0,2172	11	11	11		4285	3.4	0.9	9		11	2,8506		0,2,4252	no	missense	COL27A1	NM_032888.2	101	0,2,6424	TT,TC,CC		0.0235,0.0,0.0156	probably-damaging	1429/1861	117052528	2,12850	2172	4254	6426	SO:0001583	missense	85301			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.4285C>T	9.37:g.117052528C>T	ENSP00000348385:p.Arg1429Trp		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357598	0.61293	0.0	2.35E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96200	-3.94	5.32	3.4	0.38934	.	.	.	.	.	D	0.97232	0.9095	M	0.92507	3.315	0.40675	D	0.982257	D	0.76494	0.999	P	0.54856	0.762	D	0.96917	0.9671	9	0.72032	D	0.01	.	11.5638	0.50794	0.5039:0.4961:0.0:0.0	.	1429	Q8IZC6	CORA1_HUMAN	W	1429	ENSP00000348385:R1429W	ENSP00000348385:R1429W	R	+	1	2	COL27A1	116092349	0.123000	0.22298	0.933000	0.37362	0.691000	0.40173	0.324000	0.19610	0.537000	0.28751	0.491000	0.48974	CGG		0.692	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117052528	C	T	117052528	3	4	7	1	0	0	0	0	1	0	0	0	3685	643	23	1	4471	1	COL27A1	9	117052528	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	7361954	117052528	24160903	43	501											
TNC	3371	broad.mit.edu	37	chr9	117838693	117838694	+	Frame_Shift_Ins	INS	-	-	T																															agtgtggttttggttgtggcINSttgttggctctttggaacat																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:117838693_117838694insT	ENST00000350763.4	-	8	3246_3247	c.2835_2836insA	c.(2833-2838)caagccfs	p.A946fs	TNC_ENST00000423613.2_Frame_Shift_Ins_p.A946fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.A946fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.A946fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.A946fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.A946fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.A946fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.A946fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.A946fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	946	Fibronectin type-III 4. {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						TTGGTTGTGGCTTGTTGGCTCT	0.535																																						.											0																																										SO:0001589	frameshift_variant	3371				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.2836dupA	9.37:g.117838695_117838695dupT	ENSP00000265131:p.Ala946fs		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	CCDS6811.1																																																																																				0.535	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117838694	-	T	117838693	7	5	7	1	0	1	1	0	0	0	0	0	16267	797	28	0	3853	0	TNC	9	117838693	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	786165	117838693	23374738	44	502											
OR1Q1	158131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	125377830	125377830	+	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	gctattcagtgaccaagggtCgcattataacagtcgtgtac	11	11	10	9	2	1	1	1	1	0	0	3	1	1	1	1	1	2	3	1	1	5	5			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:125377830C>T	ENST00000297913.2	+	1	883	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	272					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GACCAAGGGTCGCATTATAAC	0.527																																						.											0													66	64	65					9																	125377830		2203	4300	6503	SO:0001583	missense	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.814C>T	9.37:g.125377830C>T	ENSP00000297913:p.Arg272Cys		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572804	0.28092	.	.	ENSG00000165202	ENST00000297913	T	0.00130	8.69	5.57	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.00552	0.0018	M	0.88640	2.97	0.19300	N	0.99997	D	0.89917	1.0	D	0.78314	0.991	T	0.29397	-1.0013	10	0.66056	D	0.02	-7.5851	13.5884	0.61944	0.1563:0.8437:0.0:0.0	.	272	Q15612	OR1Q1_HUMAN	C	272	ENSP00000297913:R272C	ENSP00000297913:R272C	R	+	1	0	OR1Q1	124417651	0.000000	0.05858	0.103000	0.21229	0.226000	0.24999	0.473000	0.22132	1.569000	0.49696	0.650000	0.86243	CGC		0.527	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			T	125377830	C	T	125377830	3	4	7	1	0	0	0	0	1	0	0	0	10971	884	31	1	816	1	OR1Q1	9	125377830	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	7539137	125377830	15835601	45	503											
NR5A1	2516	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	127262905	127262905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccattggcccgaatctGtgccttcttctgctgtttca	6	14	9	12	1	4	0	1	0	3	0	4	2	4	0	3	1	3	2	3	1	2	4			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:127262905G>T	ENST00000373588.4	-	4	530	c.334C>A	c.(334-336)Cag>Aag	p.Q112K		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	112					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						GCCCGAATCTGTGCCTTCTTC	0.677																																						.											0													38	41	40					9																	127262905		2138	4122	6260	SO:0001583	missense	2516			D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.334C>A	9.37:g.127262905G>T	ENSP00000362690:p.Gln112Lys		O15196|Q5T6F5	Missense_Mutation	SNP	ENST00000373588.4	37	CCDS6856.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974805	0.34848	.	.	ENSG00000136931	ENST00000373588;ENST00000455734	D;D	0.93906	-3.31;-3.31	4.54	2.67	0.31697	Nuclear hormone receptor, ligand-binding (1);	0.218465	0.38778	N	0.001565	D	0.84151	0.5409	L	0.29908	0.895	0.28408	N	0.91831	B	0.06786	0.001	B	0.04013	0.001	T	0.67405	-0.5679	10	0.05525	T	0.97	.	7.0038	0.24826	0.2787:0.0:0.7213:0.0	.	112	Q13285	STF1_HUMAN	K	112	ENSP00000362690:Q112K;ENSP00000393245:Q112K	ENSP00000362690:Q112K	Q	-	1	0	NR5A1	126302726	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.343000	0.44001	0.897000	0.36392	0.561000	0.74099	CAG		0.677	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		T	127262905	G	T	127262905	3	4	7	1	0	0	0	0	1	0	0	0	10635	1386	48	5	1067	5	NR5A1	9	127262905	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	1885075	127262905	13950526	46	504											
OBP2B	29989	mdanderson.org	37	chr9	136083528	136083528	+	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	ggaggggctcacaggcgctgTatttgccaggctcctccgtc	5	9	14	13	2	1	0	1	0	0	0	4	1	3	1	3	5	1	4	3	5	1	2	rs3192921	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:136083528T>A	ENST00000372034.3	-	3	310	c.269A>T	c.(268-270)tAc>tTc	p.Y90F	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_Silent_p.I45I	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	90					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		ACAGGCGCTGTATTTGCCAGG	0.642																																						.											0													60	58	59					9																	136083528		2203	4300	6503	SO:0001583	missense	29989			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.269A>T	9.37:g.136083528T>A	ENSP00000361104:p.Tyr90Phe		Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.376984	0.01214	.	.	ENSG00000171102	ENST00000372034	T	0.06849	3.25	1.91	0.679	0.17975	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.188123	0.26062	N	0.026576	T	0.04543	0.0124	N	0.24115	0.695	0.19945	N	0.999945	B	0.33000	0.393	B	0.37731	0.257	T	0.39881	-0.9592	10	0.02654	T	1	-47.8449	5.6514	0.17618	0.2549:0.0:0.0:0.7451	rs3192921;rs17417803	90	Q9NPH6	OBP2B_HUMAN	F	90	ENSP00000361104:Y90F	ENSP00000361104:Y90F	Y	-	2	0	OBP2B	135073349	0.001000	0.12720	0.123000	0.21794	0.003000	0.03518	-0.353000	0.07691	-0.219000	0.10003	-1.992000	0.00449	TAC		0.642	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		A	136083528	T	A	136083528	3	1	7	1	0	0	0	0	1	0	0	0	10811	1638	57	5	259	5	OBP2B	9	136083528	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	8820623	136083528	5129903	47	505											
CSGALNACT2	55454	mdanderson.org	37	chr10	43659338	43659339	+	Missense_Mutation	DNP	CT	CT	TG																															tctaattttcacaattacacCttggtctcattgaatgaaga																								rs114078794|rs78146682	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:43659338_43659339CT>TG	ENST00000374466.3	+	5	1340_1341	c.1005_1006CT>TG	c.(1003-1008)acCTtg>acTGtg	p.L336V		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	336					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.T335T(3)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAATTACACCTTGGTCTCATT	0.401																																						.											3	Substitution - coding silent(3)	endometrium(3)																																								SO:0001583	missense	55454			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	Exception_encountered	10.37:g.43659338_43659339delinsTG	ENSP00000363590:p.Leu336Val		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	DNP	ENST00000374466.3	37	CCDS7201.1																																																																																				0.401	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		TG	43659339	CT	TG	43659338	3	4	7	1	0	0	0	0	1	0	0	0	3939	668	24	4	1019	4	CSGALNACT2	10	43659338	Missense_Mutation	DNP	CT	TCGA-KL-8329-01A-11D-2310-10		43659338	91875409	48	506											
CSGALNACT2	55454	mdanderson.org	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-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	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																																						.											1	Substitution - Nonsense(1)	skin(1)											191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454			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*		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		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659372	C	T	43659372	4	4	7	1	0	0	0	0	0	1	0	0	3939	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	34	43659372	91875375	49	507											
ZNF365	22891	hgsc.bcm.edu;ucsc.edu	37	chr10	64415147	64415147	+	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	tcaacacatctaaagaagccActgatgaaacaggctccccc	15	6	6	14	0	2	3	1	2	1	1	3	3	3	3	3	1	3	1	3	1	5	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:64415147A>T	ENST00000395251.1	+	4	481	c.147A>T	c.(145-147)ccA>ccT	p.P49P	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron|AC067751.1_ENST00000579246.1_RNA	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	49										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAAAGAAGCCACTGATGAAAC	0.478																																						.											0													72	68	70					10																	64415147		2203	4300	6503	SO:0001819	synonymous_variant	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.147A>T	10.37:g.64415147A>T				Silent	SNP	ENST00000395251.1	37	CCDS7265.1																																																																																				0.478	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		T	64415147	A	T	64415147	2	4	7	1	0	0	0	0	0	0	0	1	17866	146	6	5		5	ZNF365	10	64415147	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	20755775	64415147	71119600	50	508											
PTEN	5728	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	89717769	89717769	+	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	ccacaaacagaacaagatgcTaaaaaaggtttgtactttac	18	9	6	8	0	0	2	0	0	0	2	0	2	0	2	1	1	5	3	1	1	8	5	rs121913289		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:89717769T>A	ENST00000371953.3	+	7	2151	c.794T>A	c.(793-795)cTa>cAa	p.L265Q	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAGATGCTAAAAAAGGTT	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	51	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(1)|Insertion - Frameshift(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)											83	77	79					10																	89717769		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.794T>A	10.37:g.89717769T>A	ENSP00000361021:p.Leu265Gln		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374547	0.61735	.	.	ENSG00000171862	ENST00000371953	D	0.85339	-1.97	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.111163	0.64402	D	0.000012	D	0.82346	0.5017	L	0.34521	1.04	0.48040	D	0.999571	B	0.33826	0.427	B	0.42827	0.399	T	0.79605	-0.1734	9	.	.	.	-6.9851	14.9657	0.71193	0.0:0.0:0.0:1.0	.	265	P60484	PTEN_HUMAN	Q	265	ENSP00000361021:L265Q	.	L	+	2	0	PTEN	89707749	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.661000	0.83786	1.928000	0.55862	0.477000	0.44152	CTA		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89717769	T	A	89717769	3	1	7	1	0	0	0	0	1	0	0	0	12738	1522	53	5	820	5	PTEN	10	89717769	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	25302622	89717769	45816978	51	509											
PDCD4	27250	ucsc.edu	37	chr10	112657808	112657808	+	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	gcagaaagcgttttgtaagcGaaggagatggaggtcgtctt	11	10	15	5	3	1	2	0	0	1	2	2	5	1	3	0	3	2	3	0	3	3	4	rs148548339		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr10:112657808G>C	ENST00000280154.7	+	12	1646	c.1372G>C	c.(1372-1374)Gaa>Caa	p.E458Q	MIR4680_ENST00000580906.1_RNA|BBIP1_ENST00000605265.1_5'Flank|PDCD4_ENST00000393104.2_Missense_Mutation_p.E447Q	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	458					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)		TTTTGTAAGCGAAGGAGATGG	0.303																																					Ovarian(115;1498 1603 9363 40056 40885)	.											0													86	90	89					10																	112657808		2203	4300	6503	SO:0001583	missense	27250			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.1372G>C	10.37:g.112657808G>C	ENSP00000280154:p.Glu458Gln		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639851	0.87760	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.58060	0.36;0.4	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.83384	2.64	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	0.78590	-0.2145	10	0.87932	D	0	-25.6209	20.5568	0.99304	0.0:0.0:1.0:0.0	.	444;458;447	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	Q	458;447	ENSP00000280154:E458Q;ENSP00000376816:E447Q	ENSP00000280154:E458Q	E	+	1	0	PDCD4	112647798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.003000	0.93577	2.861000	0.98227	0.655000	0.94253	GAA		0.303	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		C	112657808	G	C	112657808	3	2	7	1	0	0	0	0	1	0	0	0	11621	1059	37	5	1428	5	PDCD4	10	112657808	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	22940039	112657808	22876939	52	510											
MUC6	4588	mdanderson.org	37	chr11	1017966	1017966	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtggaacgtgagtgggaAgtgtggtctgagggtgtgat	9	10	20	2	1	1	3	0	3	1	0	1	5	1	5	0	5	1	0	0	5	3	0			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:1017966A>G	ENST00000421673.2	-	31	4885	c.4835T>C	c.(4834-4836)cTt>cCt	p.L1612P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1612	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)		GTGAGTGGGAAGTGTGGTCTG	0.547																																						.											0													475	445	455					11																	1017966		2191	4283	6474	SO:0001583	missense	4588			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.4835T>C	11.37:g.1017966A>G	ENSP00000406861:p.Leu1612Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	5.280	0.237104	0.10023	.	.	ENSG00000184956	ENST00000421673	T	0.20738	2.05	2.39	-4.77	0.03219	.	.	.	.	.	T	0.15003	0.0362	L	0.49126	1.545	0.09310	N	1	B	0.26081	0.141	B	0.28305	0.088	T	0.34750	-0.9816	9	0.30078	T	0.28	.	4.2322	0.10608	0.4312:0.3355:0.2332:0.0	.	1612	Q6W4X9	MUC6_HUMAN	P	1612	ENSP00000406861:L1612P	ENSP00000406861:L1612P	L	-	2	0	MUC6	1007966	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.263000	0.02850	-0.760000	0.04677	0.247000	0.18012	CTT		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017966	A	G	1017966	3	3	7	1	0	0	0	0	1	0	0	0	9980	72	3	2	2496	2	MUC6	11	1017966	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10		1017966	133988550	53	511											
MUC5B	727897	broad.mit.edu	37	chr11	1264086	1264087	+	Frame_Shift_Ins	INS	-	-	C																															cctccctgggcaccacctggINSacccgcctatcacagaccac																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:1264086_1264087insC	ENST00000529681.1	+	31	6034_6035	c.5976_5977insC	c.(5977-5979)accfs	p.T1993fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.T1996fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1993	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)		GCACCACCTGGACCCGCCTATC	0.634																																						.											0																																										SO:0001589	frameshift_variant	727897			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		Exception_encountered	11.37:g.1264086_1264087insC	ENSP00000436812:p.Thr1993fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.634	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1264087	-	C	1264086	7	5	7	1	0	1	1	0	0	0	0	0	9979	1183	41	0	6107	0	MUC5B	11	1264086	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	246120	1264086	133742430	54	512											
PIK3C2A	5286	broad.mit.edu	37	chr11	17121508	17121508	+	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	gtaagttctggtaaccctgaAggaatcatctgtagaagaaa	15	10	10	6	0	3	3	1	1	2	2	3	4	3	4	1	2	1	4	1	2	7	4			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:17121508A>G	ENST00000265970.7	-	25	4016	c.4017T>C	c.(4015-4017)ccT>ccC	p.P1339P	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Silent_p.P959P	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1339	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						GTAACCCTGAAGGAATCATCT	0.358																																						.											0													80	81	81					11																	17121508		2200	4291	6491	SO:0001819	synonymous_variant	5286			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.4017T>C	11.37:g.17121508A>G			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																				0.358	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		G	17121508	A	G	17121508	2	3	7	1	0	0	0	0	0	0	0	1	11909	59	3	2		2	PIK3C2A	11	17121508	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	15857422	17121508	117885008	55	513											
OR5M8	219484	broad.mit.edu	37	chr11	56258238	56258239	+	Frame_Shift_Ins	INS	-	-	C																															gagaaaaagaaaggttccagINSccagccacaataaacattga																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:56258238_56258239insC	ENST00000327216.2	-	1	632_633	c.608_609insG	c.(607-609)ggcfs	p.G203fs		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	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)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAAGGTTCCAGCCAGCCACAAT	0.411																																						.											0																																										SO:0001589	frameshift_variant	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.609dupG	11.37:g.56258240_56258240dupC	ENSP00000323354:p.Gly203fs		B2RNM5|Q6IEW3|Q96RB8	Frame_Shift_Ins	INS	ENST00000327216.2	37	CCDS31533.1																																																																																				0.411	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		C	56258239	-	C	56258238	7	5	7	1	0	1	1	0	0	0	0	0	11176	958	34	0	330	0	OR5M8	11	56258238	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	39136730	56258238	78748278	56	514											
P2RX3	5024	broad.mit.edu;mdanderson.org	37	chr11	57137381	57137381	+	Missense_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	atgagactacgctgaaaatcGcggctttgaccaacccagtg	12	8	10	11	3	0	3	0	3	0	1	1	4	0	3	2	1	2	2	2	1	4	2	rs201360035		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:57137381G>A	ENST00000263314.2	+	12	1139	c.1105G>A	c.(1105-1107)Gcg>Acg	p.A369T		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	369					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						GCTGAAAATCGCGGCTTTGAC	0.547													G|||	1	0.000199681	0	0	5008	,	,		20104	0		0	False		,,,				2504	0.001					.											0								G	THR/ALA	0,4402		0,0,2201	109	90	96		1105	-5.1	0	11		96	1,8591	1.2+/-3.3	0,1,4295	no	missense	P2RX3	NM_002559.3	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	369/398	57137381	1,12993	2201	4296	6497	SO:0001583	missense	5024			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.1105G>A	11.37:g.57137381G>A	ENSP00000263314:p.Ala369Thr		Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	0.496	-0.873163	0.02570	0.0	1.16E-4	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04275	3.66	5.2	-5.1	0.02911	.	0.835048	0.10764	N	0.636768	T	0.01940	0.0061	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48375	-0.9041	10	0.13853	T	0.58	-0.0127	8.327	0.32162	0.6906:0.1285:0.181:0.0	.	369	P56373	P2RX3_HUMAN	T	368;369	ENSP00000263314:A369T	ENSP00000263314:A369T	A	+	1	0	P2RX3	56893957	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.118000	0.15605	-1.177000	0.02744	-0.251000	0.11542	GCG		0.547	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		A	57137381	G	A	57137381	3	1	7	1	0	0	0	0	1	0	0	0	11341	1087	38	1	1151	1	P2RX3	11	57137381	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	879143	57137381	77869135	57	515											
POLA2	23649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	65048558	65048558	+	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	ggagaccgggaacattcctcGggtgctcaaattccagtgga	10	8	13	10	2	1	1	1	0	0	1	4	4	3	3	3	4	2	1	3	4	2	2	rs372693281		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:65048558G>A	ENST00000265465.3	+	8	1371	c.840G>A	c.(838-840)tcG>tcA	p.S280S	POLA2_ENST00000541089.1_Silent_p.S72S	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	280					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AACATTCCTCGGGTGCTCAAA	0.512																																						.											0								G		2,4400	4.2+/-10.8	0,2,2199	152	145	148		840	-10.2	0.2	11		148	0,8594		0,0,4297	no	coding-synonymous	POLA2	NM_002689.2		0,2,6496	AA,AG,GG		0.0,0.0454,0.0154		280/599	65048558	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	23649			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.840G>A	11.37:g.65048558G>A			B4DNB4|Q9BPV3	Silent	SNP	ENST00000265465.3	37	CCDS8098.1																																																																																				0.512	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		A	65048558	G	A	65048558	2	1	7	1	0	0	0	0	0	0	0	1	12188	1103	39	1		1	POLA2	11	65048558	Silent	SNP	G	TCGA-KL-8329-01A-11D-2310-10	7911177	65048558	69957958	58	516											
DHCR7	1717	broad.mit.edu	37	chr11	71152273	71152273	+	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	acccgctgctaagaacatacCagtctctggcgctggtgggg	8	8	13	12	2	1	1	0	0	1	1	2	1	1	1	2	4	3	3	2	4	3	2			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:71152273C>T	ENST00000355527.3	-	6	902	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	DHCR7_ENST00000407721.2_Splice_Site_p.C209Y	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	209					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AAGAACATACCAGTCTCTGGC	0.572									Smith-Lemli-Opitz syndrome																													.											0													88	76	80					11																	71152273		2200	4294	6494	SO:0001630	splice_region_variant	1717	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.626+1G>A	11.37:g.71152273C>T			B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.794386|5.794386	0.96952|0.96952	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000527316|ENST00000524694	D;D;D|.	0.97870|.	-4.58;-4.58;-4.58|.	4.14|4.14	4.14|4.14	0.48551|0.48551	.|.	0.096169|.	0.64402|.	D|.	0.000001|.	T|.	0.72179|.	0.3428|.	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.40660|.	0.726|.	B|.	0.40410|.	0.328|.	T|.	0.73142|.	-0.4076|.	9|.	.|.	.|.	.|.	-30.5458|-30.5458	14.271|14.271	0.66152|0.66152	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	209|.	Q9UBM7|.	DHCR7_HUMAN|.	Y|X	209;209;177|221	ENSP00000384739:C209Y;ENSP00000347717:C209Y;ENSP00000435047:C177Y|.	.|.	C|W	-|-	2|2	0|0	DHCR7|DHCR7	70829921|70829921	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.639000|0.639000	0.38242|0.38242	6.765000|6.765000	0.74965|0.74965	2.035000|2.035000	0.60131|0.60131	0.313000|0.313000	0.20887|0.20887	TGC|TGG		0.572	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360	Missense_Mutation	T	71152273	C	T	71152273	5	4	7	1	0	0	0	0	0	0	1	0	4477	608	21	4	817	4	DHCR7	11	71152273	Splice_Site	SNP	C	TCGA-KL-8329-01A-11D-2310-10	6103715	71152273	63854243	59	517											
C12orf35	55196	mdanderson.org	37	chr12	32138691	32138691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctctcaccaaattagAaagttcacccaggaagcttc	13	11	5	12	0	3	1	2	0	1	1	5	2	3	2	2	1	1	2	2	1	4	4			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:32138691A>G	ENST00000312561.4	+	4	5216	c.4802A>G	c.(4801-4803)gAa>gGa	p.E1601G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1601																	ACCAAATTAGAAAGTTCACCC	0.368																																						.											0													67	73	71					12																	32138691		2202	4300	6502	SO:0001583	missense	55196			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.4802A>G	12.37:g.32138691A>G	ENSP00000310338:p.Glu1601Gly		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459493	0.26248	.	.	ENSG00000174718	ENST00000312561	T	0.15017	2.46	5.44	4.27	0.50696	.	0.695490	0.13932	N	0.352814	T	0.12987	0.0315	N	0.19112	0.55	0.22330	N	0.999195	P	0.39480	0.675	B	0.40940	0.344	T	0.15983	-1.0418	9	.	.	.	.	10.8893	0.46986	0.8422:0.1578:0.0:0.0	.	1601	Q9HCM1	CL035_HUMAN	G	1601	ENSP00000310338:E1601G	.	E	+	2	0	C12orf35	32029958	0.990000	0.36364	0.056000	0.19401	0.258000	0.26162	3.724000	0.54962	0.855000	0.35359	0.455000	0.32223	GAA		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		G	32138691	A	G	32138691	3	3	7	1	0	0	0	0	1	0	0	0	1682	246	9	4	4804	4	C12orf35	12	32138691	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10		32138691	101713204	60	518											
SILV	6490	broad.mit.edu	37	chr12	56348043	56348043	+	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	gggctgttctcaccaatgggAcaagagcagaagatgcgggg	11	6	16	8	1	1	3	1	0	1	3	2	4	1	4	1	4	2	3	1	4	3	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:56348043A>G	ENST00000548747.1	-	11	2603	c.1941T>C	c.(1939-1941)tgT>tgC	p.C647C	PMEL_ENST00000550447.1_Silent_p.C276C|PMEL_ENST00000360714.4_Silent_p.C654C|PMEL_ENST00000536427.1_Silent_p.C612C|PMEL_ENST00000449260.2_Silent_p.C654C|PMEL_ENST00000550464.1_Silent_p.C561C|PMEL_ENST00000539511.1_Silent_p.C561C|PMEL_ENST00000552882.1_Silent_p.C647C|PMEL_ENST00000548493.1_Silent_p.C647C			P40967	PMEL_HUMAN	premelanosome protein	647					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCAATGGGACAAGAGCAGA	0.512																																						.											0													126	111	116					12																	56348043		2203	4300	6503	SO:0001819	synonymous_variant	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1941T>C	12.37:g.56348043A>G			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	CCDS8897.1																																																																																				0.512	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		G	56348043	A	G	56348043	2	3	7	1	0	0	0	0	0	0	0	1	14322	273	10	2		2	SILV	12	56348043	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10	24209352	56348043	77503852	61	519											
B4GALNT1	2583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	58022926	58022926	+	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	catgtccctcggtggagaacCggactgggaagaaaggacat	12	6	14	9	2	0	2	0	0	0	2	2	6	1	5	2	5	1	0	2	5	3	0			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:58022926C>T	ENST00000341156.4	-	7	1300	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184Q|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	239					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGTGGAGAACCGGACTGGGAA	0.532																																						.											0													62	57	58					12																	58022926		2203	4300	6503	SO:0001583	missense	2583			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.716G>A	12.37:g.58022926C>T	ENSP00000341562:p.Arg239Gln		B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.797113	0.31777	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.17528	2.27;2.29	5.34	5.34	0.76211	.	0.210000	0.41097	D	0.000952	T	0.07007	0.0178	N	0.10916	0.065	0.80722	D	1	B;B	0.30439	0.279;0.085	B;B	0.17979	0.02;0.007	T	0.25257	-1.0137	10	0.07482	T	0.82	-3.0107	10.1216	0.42623	0.0:0.9087:0.0:0.0913	.	184;239	B4DE26;Q00973	.;B4GN1_HUMAN	Q	239;184	ENSP00000341562:R239Q;ENSP00000401601:R184Q	ENSP00000341562:R239Q	R	-	2	0	B4GALNT1	56309193	0.945000	0.32115	1.000000	0.80357	0.992000	0.81027	1.769000	0.38522	2.522000	0.85027	0.655000	0.94253	CGG		0.532	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		T	58022926	C	T	58022926	3	4	7	1	0	0	0	0	1	0	0	0	1266	652	23	1	905	1	B4GALNT1	12	58022926	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	1674883	58022926	75828969	62	520											
KIAA1033	23325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	105504982	105504982	+	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	caactgagaagaattgaggaCgctctggatgactcaattgg	13	9	12	7	1	2	4	1	3	1	2	2	7	2	6	0	3	1	1	0	3	4	2	rs368178226		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:105504982C>T	ENST00000332180.5	+	2	228	c.141C>T	c.(139-141)gaC>gaT	p.D47D		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						GAATTGAGGACGCTCTGGATG	0.303																																						.											0								C		1,3617		0,1,1808	77	72	74		141	-10.7	0.4	12		74	0,8136		0,0,4068	no	coding-synonymous	KIAA1033	NM_015275.1		0,1,5876	TT,TC,CC		0.0,0.0276,0.0085		47/1174	105504982	1,11753	1809	4068	5877	SO:0001819	synonymous_variant	23325			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.141C>T	12.37:g.105504982C>T				Silent	SNP	ENST00000332180.5	37	CCDS41826.1																																																																																				0.303	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		T	105504982	C	T	105504982	2	4	7	1	0	0	0	0	0	0	0	1	8206	535	19	1		1	KIAA1033	12	105504982	Silent	SNP	C	TCGA-KL-8329-01A-11D-2310-10	47482056	105504982	28346913	63	521											
TCTN2	79867	broad.mit.edu	37	chr12	124180975	124180976	+	Frame_Shift_Ins	INS	-	-	A																															gtctaggttaccaacttggcINSaagcctgtccgagctctaaa																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:124180975_124180976insA	ENST00000303372.5	+	12	1454_1455	c.1326_1327insA	c.(1327-1329)aagfs	p.K443fs	TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.K442fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	443					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)		ACCAACTTGGCAAGCCTGTCCG	0.431																																						.											0																																										SO:0001589	frameshift_variant	79867			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.1328dupA	12.37:g.124180977_124180977dupA	ENSP00000304941:p.Lys443fs		A8K7Y8|B3KPW5|Q9H966	Frame_Shift_Ins	INS	ENST00000303372.5	37	CCDS9253.1																																																																																				0.431	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		A	124180976	-	A	124180975	7	5	7	1	0	1	1	0	0	0	0	0	15720	697	25	0	1372	0	TCTN2	12	124180975	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	18675993	124180975	9670920	64	522											
POTEG	404785	mdanderson.org	37	chr14	19553760	19553760	+	Missense_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	ctgcagggggagcggcaagaGcaaagtgggcccttggggag	9	4	20	8	1	0	1	0	0	0	1	0	3	0	3	1	6	3	3	1	6	2	1	rs375902660		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:19553760G>A	ENST00000409832.3	+	1	396	c.344G>A	c.(343-345)aGc>aAc	p.S115N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCGGCAAGAGCAAAGTGGGC	0.597																																						.											0													391	424	413					14																	19553760		2201	4298	6499	SO:0001583	missense	404785				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.344G>A	14.37:g.19553760G>A	ENSP00000386971:p.Ser115Asn		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	0.049	-1.256079	0.01457	.	.	ENSG00000222036	ENST00000409832	T	0.27256	1.68	.	.	.	.	.	.	.	.	T	0.12263	0.0298	L	0.37630	1.12	0.09310	N	1	B	0.21147	0.052	B	0.21708	0.036	T	0.41805	-0.9488	7	0.02654	T	1	.	.	.	.	.	115	Q6S5H5	POTEG_HUMAN	N	115	ENSP00000386971:S115N	ENSP00000386971:S115N	S	+	2	0	POTEG	18623760	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.058000	0.01394	-1.485000	0.01854	-1.526000	0.00926	AGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19553760	G	A	19553760	3	1	7	1	0	0	0	0	1	0	0	0	12266	971	34	4	346	4	POTEG	14	19553760	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10		19553760	87795780	65	523											
KIAA1409	57578	broad.mit.edu	37	chr14	94156610	94156610	+	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	ggctcccacgttgcagaccaTcttattgttatcctgattgg	7	14	9	11	1	1	2	0	1	1	1	3	2	3	2	3	2	1	4	3	2	2	5	rs182301730	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:94156610T>C	ENST00000393151.2	+	46	7350	c.7350T>C	c.(7348-7350)caT>caC	p.H2450H	UNC79_ENST00000553484.1_Silent_p.H2472H|UNC79_ENST00000256339.4_Silent_p.H2273H|UNC79_ENST00000555664.1_Silent_p.H2411H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2450					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						TTGCAGACCATCTTATTGTTA	0.488													T|||	2	0.000399361	0	0	5008	,	,		20460	0.002		0	False		,,,				2504	0					.											0													142	122	129					14																	94156610		2203	4300	6503	SO:0001819	synonymous_variant	57578			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.7350T>C	14.37:g.94156610T>C			B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.488	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94156610	T	C	94156610	2	2	7	1	0	0	0	0	0	0	0	1	8230	1432	50	4		4	KIAA1409	14	94156610	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10	74602850	94156610	13192930	66	524											
AHNAK2	113146	mdanderson.org	37	chr14	105416872	105416872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggtccccctccagcTgcgcaccatccagctttgct	6	8	10	17	1	0	0	0	0	0	0	3	1	3	1	5	2	4	4	5	2	0	1	rs148787429	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:105416872T>C	ENST00000333244.5	-	7	5035	c.4916A>G	c.(4915-4917)cAg>cGg	p.Q1639R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1639						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)			CCCCTCCAGCTGCGCACCATC	0.592													.|||	704	0.140575	0.1566	0.0778	5008	,	,		17132	0.2401		0.0358	False		,,,				2504	0.1687					.											0								C	ARG/GLN	378,3456		58,262,1597	148	168	162		4916	-1.8	0	14	dbSNP_134	162	270,7886		40,190,3848	no	missense	AHNAK2	NM_138420.2	43	98,452,5445	CC,CT,TT		3.3104,9.8592,5.4045	benign	1639/5796	105416872	648,11342	1917	4078	5995	SO:0001583	missense	113146			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.4916A>G	14.37:g.105416872T>C	ENSP00000353114:p.Gln1639Arg		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	214	0.09798534798534798	54	0.10975609756097561	36	0.09944751381215469	106	0.1853146853146853	18	0.023746701846965697	N	0.418	-0.909540	0.02434	0.098592	0.033104	ENSG00000185567	ENST00000333244	T	0.00659	5.94	3.11	-1.82	0.07857	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.37619	-0.9698	8	0.24483	T	0.36	.	5.9125	0.19037	0.0:0.2565:0.1368:0.6067	.	1639	Q8IVF2	AHNK2_HUMAN	R	1639	ENSP00000353114:Q1639R	ENSP00000353114:Q1639R	Q	-	2	0	AHNAK2	104487917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.109000	0.10840	-2.238000	0.00712	-3.443000	0.00036	CAG		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416872	T	C	105416872	3	2	7	1	0	0	0	0	1	0	0	0	415	1580	55	2	12475	2	AHNAK2	14	105416872	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	11260262	105416872	1932668	67	525											
MTA1	9112	ucsc.edu	37	chr14	105931063	105931063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccccaagtttgccatgaAgaccaggcaggctttctatc	10	9	10	12	0	1	2	0	1	1	1	2	3	1	2	4	2	2	3	4	2	3	3			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:105931063A>G	ENST00000331320.7	+	15	1611	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	MTA1_ENST00000435036.2_Missense_Mutation_p.K2R|MTA1_ENST00000406191.1_Missense_Mutation_p.K466R|MTA1_ENST00000405646.1_Missense_Mutation_p.K449R	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	466					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTTGCCATGAAGACCAGGCAG	0.706																																						.											0													32	26	28					14																	105931063		2198	4293	6491	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1397A>G	14.37:g.105931063A>G	ENSP00000333633:p.Lys466Arg		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532901	0.85812	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036	T;T;T;T;T	0.75050	0.89;0.83;0.88;0.86;-0.9	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	M	0.82517	2.595	0.58432	D	0.999999	D;P	0.76494	0.999;0.949	D;P	0.85130	0.997;0.725	D	0.88270	0.2929	10	0.87932	D	0	-34.481	13.0096	0.58724	1.0:0.0:0.0:0.0	.	258;466	Q59FW1;Q13330	.;MTA1_HUMAN	R	375;466;466;449;258;2	ENSP00000333633:K466R;ENSP00000385702:K466R;ENSP00000384180:K449R;ENSP00000394106:K258R;ENSP00000389425:K2R	ENSP00000333633:K466R	K	+	2	0	MTA1	105002108	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.273000	0.78527	1.827000	0.53221	0.379000	0.24179	AAG		0.706	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			G	105931063	A	G	105931063	3	3	7	1	0	0	0	0	1	0	0	0	9908	72	3	2	1455	2	MTA1	14	105931063	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	514191	105931063	1418477	68	526											
MTMR10	54893	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr15	31234179	31234179	+	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	tggatctggctttggttttaAtatcaatgaatttctccttg	8	19	8	6	0	3	1	1	1	2	0	4	2	3	2	1	3	0	2	1	3	4	6	rs377638176		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:31234179A>T	ENST00000435680.1	-	16	1925	c.1828T>A	c.(1828-1830)Tta>Ata	p.L610I	MTMR10_ENST00000314404.8_Intron|FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	610	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TTTGGTTTTAATATCAATGAA	0.438																																						.											0													175	180	178					15																	31234179		1939	4133	6072	SO:0001583	missense	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1828T>A	15.37:g.31234179A>T	ENSP00000402537:p.Leu610Ile		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831740	0.50845	.	.	ENSG00000166912	ENST00000435680	T	0.50813	0.73	5.67	-11.3	0.00108	Myotubularin phosphatase domain (1);	.	.	.	.	T	0.52597	0.1744	M	0.67953	2.075	0.22719	N	0.998815	D	0.53312	0.959	P	0.53224	0.721	T	0.67507	-0.5653	9	0.33141	T	0.24	.	17.8796	0.88837	0.1273:0.1655:0.7071:0.0	.	610	Q9NXD2	MTMRA_HUMAN	I	610	ENSP00000402537:L610I	ENSP00000402537:L610I	L	-	1	2	MTMR10	29021471	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	-0.907000	0.04067	-2.442000	0.00549	0.533000	0.62120	TTA		0.438	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		T	31234179	A	T	31234179	3	4	7	1	0	0	0	0	1	0	0	0	9939	98	4	5	509	5	MTMR10	15	31234179	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10		31234179	71297213	69	527											
OTUD7A	161725	mdanderson.org;bcgsc.ca	37	chr15	31779425	31779425	+	Missense_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	cggaggggatccggatccacGtcacgttcatgtagctgtgc	7	9	14	11	4	2	0	2	0	0	0	4	3	4	3	2	4	2	3	2	4	1	2			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:31779425G>A	ENST00000307050.4	-	10	1414	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	OTUD7A_ENST00000382902.1_Missense_Mutation_p.T448M	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	441	Catalytic. {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)		CCGGATCCACGTCACGTTCAT	0.582																																						.											0													123	96	105					15																	31779425		2202	4300	6502	SO:0001583	missense	161725			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.1322C>T	15.37:g.31779425G>A	ENSP00000305926:p.Thr441Met		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429639	0.83776	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32988	1.43;1.43	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.51422	1.61	0.50467	D	0.999874	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.54200	-0.8329	10	0.62326	D	0.03	-25.3487	17.7878	0.88543	0.0:0.0:1.0:0.0	.	448;441	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	M	441;448	ENSP00000305926:T441M;ENSP00000372358:T448M	ENSP00000305926:T441M	T	-	2	0	OTUD7A	29566717	1.000000	0.71417	0.950000	0.38849	0.888000	0.51559	8.825000	0.92029	2.234000	0.73211	0.561000	0.74099	ACG		0.582	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		A	31779425	G	A	31779425	3	1	7	1	0	0	0	0	1	0	0	0	11318	1145	40	1	1466	1	OTUD7A	15	31779425	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	545246	31779425	70751967	70	528											
IQGAP1	8826	broad.mit.edu;hgsc.bcm.edu	37	chr15	91030265	91030277	+	Frame_Shift_Del	DEL	GTTCGACGTGCCT	GTTCGACGTGCCT	-																															tctctcaccctgaccaacaaGttcgacgtgcctggagatga																								rs368968167|rs528193427|rs181919733|rs201241538		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	GTTCGACGTGCCT	GTTCGACGTGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:91030265_91030277delGTTCGACGTGCCT	ENST00000268182.5	+	32	4228_4240	c.4104_4116delGTTCGACGTGCCT	c.(4102-4116)aagttcgacgtgcctfs	p.KFDVP1368fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.KFDVP796fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1368	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)	p.D1370D(1)		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)			TGACCAACAAGTTCGACGTGCCTGGAGATGAGA	0.451																																						.											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	8826			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.4104_4116delGTTCGACGTGCCT	15.37:g.91030265_91030277delGTTCGACGTGCCT	ENSP00000268182:p.Lys1368fs		A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.451	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		-	91030277	GTTCGACGTGCCT	-	91030265	7	5	7	1	0	1	0	1	0	0	0	0	7814	1020	36	0	4230	0	IQGAP1	15	91030265	Frame_Shift_Del	DEL	GTTCGACGTGCCT	TCGA-KL-8329-01A-11D-2310-10	59250840	91030265	11501127	71	529	12	2									
IQGAP1	8826	bcgsc.ca	37	chr15	91030266	91030278	+	Frame_Shift_Del	DEL	GTTCGACGTGCCT	GTTCGACGTGCCT	-																															ctctcaccctgaccaacaagTtcgacgtgcctggagatgag																								rs368968167|rs528193427|rs181919733|rs201241538		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	GTTCGACGTGCCT	GTTCGACGTGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:91030266_91030278delGTTCGACGTGCCT	ENST00000268182.5	+	32	4229_4241	c.4105_4117delGTTCGACGTGCCT	c.(4105-4119)gttcgacgtgcctgafs	p.VRRA*1369fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.VRRA*797fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1369	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)	p.D1370D(1)		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)			GACCAACAAGTTCGACGTGCCTGGAGATGAGAA	0.451																																						.											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	8826			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.4105_4117delGTTCGACGTGCCT	15.37:g.91030266_91030278delGTTCGACGTGCCT	ENSP00000268182:p.Val1369fs		A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.451	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		-	91030278	GTTCGACGTGCCT	-	91030266	7	5	7	1	0	1	0	1	0	0	0	0	7814	1725	60	0	4231	0	IQGAP1	15	91030266	Frame_Shift_Del	DEL	GTTCGACGTGCCT	TCGA-KL-8329-01A-11D-2310-10	1	91030266	11501126	72	530	12	2									
TPSD1	23430	mdanderson.org	37	chr16	1306355	1306355	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgagcccggcctacgTggcccctggtgagtcccagc	4	6	14	17	3	0	1	0	1	0	0	1	2	1	1	6	4	3	0	6	4	1	1	rs1800984	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr16:1306355T>C	ENST00000211076.3	+	1	222	c.74T>C	c.(73-75)gTg>gCg	p.V25A	TPSD1_ENST00000397534.2_Missense_Mutation_p.V18A|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	25			V -> A (in dbSNP:rs1800984).	V -> G (in Ref. 1; AAD17861). {ECO:0000305}.		extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CCGGCCTACGTGGCCCCTGGT	0.721													-|||	3599	0.71865	0.7564	0.6542	5008	,	,		14753	0.9484		0.5577	False		,,,				2504	0.6421					.											0								T	ALA/VAL	3121,1271		1094,933,169	29	37	34		74	-3.1	0	16	dbSNP_89	34	4690,3906		1125,2440,733	no	missense	TPSD1	NM_012217.2	64	2219,3373,902	CC,CT,TT		45.4397,28.939,39.8599	benign	25/243	1306355	7811,5177	2196	4298	6494	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.74T>C	16.37:g.1306355T>C	ENSP00000211076:p.Val25Ala		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	1558	0.7133699633699634	388	0.7886178861788617	208	0.574585635359116	556	0.972027972027972	406	0.5356200527704486	-	0.855	-0.737258	0.03111	0.71061	0.545603	ENSG00000095917	ENST00000397534;ENST00000211076	T;T	0.81247	-1.47;-1.47	2.55	-3.13	0.05266	.	0.813971	0.10635	N	0.651704	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	9	0.02654	T	1	.	3.4489	0.07491	0.0:0.375:0.2043:0.4206	rs1800984;rs3865206;rs4083416	25	Q9BZJ3	TRYD_HUMAN	A	18;25	ENSP00000380668:V18A;ENSP00000211076:V25A	ENSP00000211076:V25A	V	+	2	0	TPSD1	1246356	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.814000	0.01723	-0.826000	0.04284	-1.137000	0.01932	GTG		0.721	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			C	1306355	T	C	1306355	3	2	7	1	0	0	0	0	1	0	0	0	16422	1696	59	2	76	2	TPSD1	16	1306355	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10		1306355	89048398	73	531											
ADCY9	115	broad.mit.edu	37	chr16	4016581	4016581	+	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	caaagtccccgatgagctcgTtgaggacccggtagcactcc	9	7	11	14	3	0	2	0	2	0	0	3	4	2	3	4	2	2	4	4	2	2	2			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr16:4016581T>A	ENST00000294016.3	-	11	3795	c.3257A>T	c.(3256-3258)aAc>aTc	p.N1086I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1086	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATGAGCTCGTTGAGGACCCG	0.582																																						.											0													124	120	121					16																	4016581		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3257A>T	16.37:g.4016581T>A	ENSP00000294016:p.Asn1086Ile		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389093	0.82902	.	.	ENSG00000162104	ENST00000294016	T	0.40225	1.04	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	H	0.95679	3.705	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.83486	0.0067	10	0.87932	D	0	.	15.9238	0.79597	0.0:0.0:0.0:1.0	.	1086	O60503	ADCY9_HUMAN	I	1086	ENSP00000294016:N1086I	ENSP00000294016:N1086I	N	-	2	0	ADCY9	3956582	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.997000	0.88414	2.221000	0.72209	0.533000	0.62120	AAC		0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4016581	T	A	4016581	3	1	7	1	0	0	0	0	1	0	0	0	301	1725	60	5	808	5	ADCY9	16	4016581	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	2710226	4016581	86338172	74	532											
CSNK2A2	1459	broad.mit.edu	37	chr16	58199559	58199559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctagggcctcagggctgAcaaggtgtctgttctcacta	8	11	12	10	0	4	1	2	1	3	0	5	2	4	1	1	3	0	2	1	3	3	3			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr16:58199559A>G	ENST00000262506.3	-	10	1064	c.881T>C	c.(880-882)gTc>gCc	p.V294A	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						CTCAGGGCTGACAAGGTGTCT	0.453																																					Melanoma(54;119 1219 18349 35700 39738)	.											0													136	120	125					16																	58199559		2198	4300	6498	SO:0001583	missense	1459			M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.881T>C	16.37:g.58199559A>G	ENSP00000262506:p.Val294Ala			Missense_Mutation	SNP	ENST00000262506.3	37	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115752	0.56505	.	.	ENSG00000070770	ENST00000262506	T	0.06849	3.25	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	N	0.25825	0.765	0.80722	D	1	B	0.21452	0.056	P	0.48141	0.568	T	0.41233	-0.9520	10	0.17832	T	0.49	-14.6529	15.5278	0.75925	1.0:0.0:0.0:0.0	.	294	P19784	CSK22_HUMAN	A	294	ENSP00000262506:V294A	ENSP00000262506:V294A	V	-	2	0	CSNK2A2	56757060	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.320000	0.78422	0.528000	0.53228	GTC		0.453	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		G	58199559	A	G	58199559	3	3	7	1	0	0	0	0	1	0	0	0	3958	275	10	2	179	2	CSNK2A2	16	58199559	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	54182978	58199559	32155194	75	533											
MNT	4335	ucsc.edu	37	chr17	2290424	2290424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggtacaagggcagcTgggagcccaggtgggccaca	8	4	18	11	1	0	0	0	0	0	0	0	1	0	1	2	5	4	4	2	5	2	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:2290424T>C	ENST00000174618.4	-	6	1925	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	MNT_ENST00000575374.1_5'Flank|RP1-59D14.1_ENST00000571775.1_RNA	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	507					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	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 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)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAAGGGCAGCTGGGAGCCCAG	0.701																																						.											0													28	28	28					17																	2290424		2198	4292	6490	SO:0001583	missense	4335			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1520A>G	17.37:g.2290424T>C	ENSP00000174618:p.Gln507Arg		A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.561493	0.45590	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.82984	-1.67	4.91	4.91	0.64330	.	0.111581	0.39909	N	0.001235	T	0.72211	0.3432	N	0.14661	0.345	0.45035	D	0.99805	P	0.42827	0.791	B	0.41236	0.351	T	0.76135	-0.3070	10	0.51188	T	0.08	-13.646	13.709	0.62656	0.0:0.0:0.0:1.0	.	507	Q99583	MNT_HUMAN	R	507	ENSP00000174618:Q507R	ENSP00000174618:Q507R	Q	-	2	0	MNT	2237174	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.652000	0.83633	1.844000	0.53588	0.482000	0.46254	CAG		0.701	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		C	2290424	T	C	2290424	3	2	7	1	0	0	0	0	1	0	0	0	9678	1580	55	2	232	2	MNT	17	2290424	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10		2290424	78904786	76	534											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7577594	7577594	+	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	tagttgtagtggatggtggtAcagtcagagccaacctagga	11	10	14	6	0	1	1	1	0	0	1	1	3	1	3	2	4	3	3	2	4	5	5			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:7577594A>T	ENST00000269305.4	-	7	876	c.687T>A	c.(685-687)tgT>tgA	p.C229*	TP53_ENST00000445888.2_Nonsense_Mutation_p.C229*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C229*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C229*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C229*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Nonsense_Mutation_p.C229*	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	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C229fs*10(9)|p.0?(8)|p.?(5)|p.C229*(3)|p.C229_H233delCTTIH(2)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(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)	GGATGGTGGTACAGTCAGAGC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	36	Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Substitution - Nonsense(3)|Insertion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	ovary(7)|biliary_tract(6)|breast(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|thymus(1)|large_intestine(1)|urinary_tract(1)|lung(1)|liver(1)	GRCh37	CD076915	TP53	D							104	85	91					17																	7577594		2203	4300	6503	SO:0001587	stop_gained	7157	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;	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.687T>A	17.37:g.7577594A>T	ENSP00000269305:p.Cys229*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745334	0.89663	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	4.48	-0.453	0.12201	.	0.350628	0.33346	N	0.005002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.3974	8.2175	0.31521	0.612:0.0:0.388:0.0	.	.	.	.	X	229;229;229;229;229;229;218;136;97;136	.	ENSP00000269305:C229X	C	-	3	2	TP53	7518319	0.331000	0.24713	0.231000	0.23993	0.944000	0.59088	0.148000	0.16224	-0.212000	0.10109	0.379000	0.24179	TGT		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577594	A	T	7577594	4	4	7	1	0	0	0	0	0	1	0	0	16378	389	14	5	603	5	TP53	17	7577594	Nonsense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	5287170	7577594	73617616	77	535			2	4		3	3	1719	N	T_C_A	1.564135e-05
TP53	7157	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	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	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	12	13	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	4	3			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y205C	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)											136	121	126					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	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;	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.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys		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	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	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	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	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	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578235	T	C	7578235	3	2	7	1	0	0	0	0	1	0	0	0	16378	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	641	7578235	73616975	78	536			2	4		3	3	1719	N	T_C_A	1.564135e-05
TP53	7157	hgsc.bcm.edu;mdanderson.org	37	chr17	7579312	7579312	+	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	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639						66	61	63					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	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;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>A	17.37:g.7579312C>T			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	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	T	7579312	C	T	7579312	5	4	7	1	0	0	0	0	0	0	1	0	16378	666	23	1	927	1	TP53	17	7579312	Splice_Site	SNP	C	TCGA-KL-8329-01A-11D-2310-10	1077	7579312	73615898	79	537			2	4		3	3	1719	N	T_C_A	1.564135e-05
RAB11FIP4	84440	ucsc.edu	37	chr17	29844874	29844874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaggacgggggacttggggGcctgtttctgccagaagaca	9	7	17	8	1	1	2	0	0	1	2	1	5	1	4	2	5	1	1	2	5	2	2			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:29844874G>T	ENST00000325874.8	+	4	771	c.542G>T	c.(541-543)gGc>gTc	p.G181V	RN7SL45P_ENST00000578050.1_RNA|RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.G79V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	181	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)			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)				GGACTTGGGGGCCTGTTTCTG	0.567																																						.											0													13	16	15					17																	29844874		1993	3892	5885	SO:0001583	missense	84440			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.542G>T	17.37:g.29844874G>T	ENSP00000312837:p.Gly181Val		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180141	0.21787	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.55	2.41	0.29592	.	0.349613	0.32769	N	0.005677	T	0.43033	0.1229	L	0.29908	0.895	0.58432	D	0.999993	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.16482	-1.0401	8	.	.	.	-19.5212	13.7733	0.63038	0.0:0.4485:0.5515:0.0	.	79;181	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	V	181	.	.	G	+	2	0	RAB11FIP4	26868994	1.000000	0.71417	0.722000	0.30670	0.925000	0.55904	2.658000	0.46733	0.290000	0.22444	-0.438000	0.05819	GGC		0.567	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		T	29844874	G	T	29844874	3	4	7	1	0	0	0	0	1	0	0	0	12896	1203	42	5	556	5	RAB11FIP4	17	29844874	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	22265562	29844874	51350336	80	538											
TLK2	11011	mdanderson.org	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-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	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_ENST00000582809.1_Missense_Mutation_p.R113Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q|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																																						.											26	Substitution - Missense(26)	endometrium(15)|kidney(9)|central_nervous_system(2)											72	74	73					17																	60637441		2203	4298	6501	SO:0001583	missense	11011			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		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	7	1	0	0	0	0	1	0	0	0	15941	1058	37	1	819	1	TLK2	17	60637441	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	30792567	60637441	20557769	81	539											
CASKIN2	57513	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	73502411	73502411	+	Missense_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	gaagcagccgcaccacctcgGtcttgccatacagtgcggcc	8	6	11	16	3	1	0	0	0	1	0	2	1	1	0	5	2	5	2	5	2	2	2			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:73502411G>A	ENST00000321617.3	-	8	1287	c.701C>T	c.(700-702)aCc>aTc	p.T234I	CASKIN2_ENST00000581870.1_Missense_Mutation_p.T234I|CASKIN2_ENST00000433559.2_Missense_Mutation_p.T152I	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	234						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)			CACCACCTCGGTCTTGCCATA	0.667																																						.											0													50	44	46					17																	73502411		2203	4299	6502	SO:0001583	missense	57513			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.701C>T	17.37:g.73502411G>A	ENSP00000325355:p.Thr234Ile		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596620	0.96602	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.52057	0.68;0.68	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.000000	0.48286	D	0.000200	T	0.53626	0.1808	N	0.12637	0.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.988	T	0.61163	-0.7118	10	0.54805	T	0.06	.	19.3138	0.94204	0.0:0.0:1.0:0.0	.	152;234	Q8WXE0-2;Q8WXE0	.;CSKI2_HUMAN	I	234;152	ENSP00000325355:T234I;ENSP00000406963:T152I	ENSP00000325355:T234I	T	-	2	0	CASKIN2	71014006	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	9.807000	0.99171	2.561000	0.86390	0.655000	0.94253	ACC		0.667	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		A	73502411	G	A	73502411	3	1	7	1	0	0	0	0	1	0	0	0	2667	1261	44	3	2959	3	CASKIN2	17	73502411	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	12864970	73502411	7692799	82	540											
SERPINB5	5268	mdanderson.org	37	chr18	61170782	61170782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtggccctatcaaatgttAtccacaaagtgtgcttagaa	13	11	9	8	0	1	1	1	0	0	1	2	2	2	1	2	1	1	2	2	1	6	3	rs1455555	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr18:61170782A>G	ENST00000382771.4	+	7	1247	c.955A>G	c.(955-957)Atc>Gtc	p.I319V		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	319			I -> V (in dbSNP:rs1455555). {ECO:0000269|PubMed:17974005}.		cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATCAAATGTTATCCACAAAGT	0.458													A|||	1827	0.364816	0.1884	0.4092	5008	,	,		19831	0.4871		0.4662	False		,,,				2504	0.3415					.											0								A	VAL/ILE	1023,3383	378.5+/-322.9	133,757,1313	92	76	81		955	0.5	0.4	18	dbSNP_88	81	4244,4356	573.4+/-389.9	1069,2106,1125	yes	missense	SERPINB5	NM_002639.4	29	1202,2863,2438	GG,GA,AA		49.3488,23.2183,40.4967	benign	319/376	61170782	5267,7739	2203	4300	6503	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.955A>G	18.37:g.61170782A>G	ENSP00000372221:p.Ile319Val		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	872	0.3992673992673993	82	0.16666666666666666	155	0.4281767955801105	263	0.4597902097902098	372	0.49076517150395776	A	0.603	-0.828305	0.02734	0.232183	0.493488	ENSG00000206075	ENST00000382771	D	0.83075	-1.68	5.95	0.527	0.17084	Serpin domain (3);	0.270437	0.36409	N	0.002601	T	0.00012	0.0000	N	0.20357	0.565	0.23271	P	0.99800098	B	0.02656	0.0	B	0.06405	0.002	T	0.24728	-1.0152	9	0.02654	T	1	.	9.8568	0.41090	0.723:0.0:0.277:0.0	rs1455555;rs3744947;rs52802635;rs60882957;rs1455555	319	P36952	SPB5_HUMAN	V	319	ENSP00000372221:I319V	ENSP00000372221:I319V	I	+	1	0	SERPINB5	59321762	0.957000	0.32711	0.446000	0.26920	0.819000	0.46315	1.402000	0.34600	0.088000	0.17205	-0.290000	0.09829	ATC		0.458	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		G	61170782	A	G	61170782	3	3	7	1	0	0	0	0	1	0	0	0	14104	449	16	4	977	4	SERPINB5	18	61170782	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10		61170782	16906466	83	541											
PLIN5	440503	ucsc.edu;bcgsc.ca	37	chr19	4534034	4534034	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccctcacctgctggTcctgctcccacacactggat	6	8	10	17	0	1	0	1	0	0	0	3	1	3	1	4	3	3	3	4	3	0	0			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:4534034T>C	ENST00000381848.3	-	2	133	c.53A>G	c.(52-54)gAc>gGc	p.D18G	PLIN5_ENST00000592610.1_Missense_Mutation_p.D18G|CTB-50L17.14_ENST00000586020.1_Missense_Mutation_p.T36A|PLIN5_ENST00000586133.1_Missense_Mutation_p.D18G	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	18	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						CACCTGCTGGTCCTGCTCCCA	0.607																																						.											0													35	39	37					19																	4534034		2027	4181	6208	SO:0001583	missense	440503			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.53A>G	19.37:g.4534034T>C	ENSP00000371272:p.Asp18Gly		A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	.	2.952	-0.216591	0.06101	.	.	ENSG00000214456	ENST00000381848	T	0.05855	3.38	2.48	1.45	0.22620	.	0.840776	0.09839	U	0.749059	T	0.07279	0.0184	L	0.50333	1.59	0.09310	N	1	B;B	0.19200	0.034;0.017	B;B	0.19946	0.027;0.025	T	0.40213	-0.9575	10	0.32370	T	0.25	.	7.4427	0.27192	0.0:0.0:0.2189:0.7811	.	18;18	Q00G26-2;Q00G26	.;PLIN5_HUMAN	G	18	ENSP00000371272:D18G	ENSP00000371272:D18G	D	-	2	0	PLIN5	4485034	0.004000	0.15560	0.216000	0.23742	0.025000	0.11179	0.827000	0.27421	-0.006000	0.14370	-1.788000	0.00630	GAC		0.607	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		C	4534034	T	C	4534034	3	2	7	1	0	0	0	0	1	0	0	0	12093	1667	58	2	1366	2	PLIN5	19	4534034	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10		4534034	54594949	84	542											
EMR2	30817	mdanderson.org	37	chr19	14877799	14877799	+	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	ggggcctctacctgtgcagaGcttcgggtcctcaggtttga	5	11	14	11	1	2	2	1	1	1	1	4	2	3	2	3	4	3	3	3	4	1	3	rs12976472	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:14877799G>C	ENST00000315576.3	-	6	929	c.478C>G	c.(478-480)Ctc>Gtc	p.L160V	EMR2_ENST00000594294.1_Missense_Mutation_p.L160V|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L160V|EMR2_ENST00000601345.1_Missense_Mutation_p.L160V|EMR2_ENST00000392965.3_Missense_Mutation_p.L160V|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.L160V|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.L160V|EMR2_ENST00000599423.1_5'Flank	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	160	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTGTGCAGAGCTTCGGGTCC	0.617																																						.											0								G	VAL/LEU,VAL/LEU,,,VAL/LEU,VAL/LEU,	1741,2609		740,261,1174	36	42	40		478,478,,,478,478,	-1.3	0	19	dbSNP_121	40	2362,6160		964,434,2863	yes	missense,missense,intron,intron,missense,missense,intron	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	32,32,,,32,32,	1704,695,4037	CC,CG,GG		27.7165,40.023,31.8754	benign,benign,,,benign,benign,	160/824,160/775,,,160/813,160/764,	14877799	4103,8769	2175	4261	6436	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.478C>G	19.37:g.14877799G>C	ENSP00000319883:p.Leu160Val		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	839	0.3841575091575092	243	0.49390243902439024	152	0.4198895027624309	169	0.29545454545454547	275	0.3627968337730871	G	0.563	-0.844360	0.02671	0.40023	0.277165	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T	0.78364	-0.86;-0.99;-1.17;-1.15;-1.04	3.06	-1.28	0.09318	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P;B;B;B	0.42757	0.789;0.008;0.097;0.019	B;B;B;B	0.40940	0.344;0.019;0.046;0.015	T	0.30297	-0.9983	8	0.09590	T	0.72	.	4.8562	0.13561	0.0:0.2107:0.3614:0.4279	rs12976472	160;160;160;160	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	V	160	ENSP00000319883:L160V;ENSP00000376694:L160V;ENSP00000263380:L160V;ENSP00000376692:L160V;ENSP00000376689:L160V	ENSP00000319883:L160V	L	-	1	0	EMR2	14738799	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.286000	0.08399	0.069000	0.16605	0.508000	0.49915	CTC		0.617	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			C	14877799	G	C	14877799	3	2	7	1	0	0	0	0	1	0	0	0	5105	971	34	5	2057	5	EMR2	19	14877799	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	10343765	14877799	44251184	85	543											
ZNF676	163223	mdanderson.org	37	chr19	22363737	22363737	+	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	gggttgagacgctactaaatCctttgccacattcttcacat	10	13	7	11	1	2	1	1	1	1	1	3	2	3	1	2	1	2	2	2	1	3	6	rs572031376	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:22363737C>G	ENST00000397121.2	-	3	1099	c.782G>C	c.(781-783)gGa>gCa	p.G261A		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)				GCTACTAAATCCTTTGCCACA	0.393													G|||	17	0.00339457	0.0015	0.0029	5008	,	,		24868	0.0089		0.003	False		,,,				2504	0.001					.											0													89	96	93					19																	22363737		2158	4274	6432	SO:0001583	missense	163223			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.782G>C	19.37:g.22363737C>G	ENSP00000380310:p.Gly261Ala		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.455683	0.00012	.	.	ENSG00000196109	ENST00000397121	T	0.35236	1.32	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.00788	-1.185	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.28996	-1.0026	9	0.02654	T	1	.	8.4431	0.32826	0.0:0.685:0.315:0.0	.	261	Q8N7Q3	ZN676_HUMAN	A	261	ENSP00000380310:G261A	ENSP00000380310:G261A	G	-	2	0	ZNF676	22155577	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.024000	0.12435	-1.409000	0.02038	-1.398000	0.01145	GGA		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363737	C	G	22363737	3	3	7	1	0	0	0	0	1	0	0	0	18080	855	30	5	988	5	ZNF676	19	22363737	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	7485938	22363737	36765246	86	544											
ANKRD27	84079	broad.mit.edu;mdanderson.org	37	chr19	33113410	33113410	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgttctgcagcaatgtcTctatgacgccttggtagccc	6	12	9	14	2	2	1	0	1	2	0	4	1	3	1	3	1	3	4	3	1	3	4			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:33113410T>C	ENST00000306065.4	-	18	1903	c.1745A>G	c.(1744-1746)gAg>gGg	p.E582G		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	582					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAGCAATGTCTCTATGACGCC	0.527																																						.											0													204	184	191					19																	33113410		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1745A>G	19.37:g.33113410T>C	ENSP00000304292:p.Glu582Gly		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.984865	0.53934	.	.	ENSG00000105186	ENST00000306065	T	0.68025	-0.3	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.098841	0.43919	D	0.000519	T	0.67069	0.2854	M	0.71206	2.165	0.80722	D	1	P	0.40332	0.713	B	0.37731	0.257	T	0.73183	-0.4063	10	0.72032	D	0.01	-27.6989	15.5369	0.76011	0.0:0.0:0.0:1.0	.	582	Q96NW4	ANR27_HUMAN	G	582	ENSP00000304292:E582G	ENSP00000304292:E582G	E	-	2	0	ANKRD27	37805250	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.630000	0.61297	2.135000	0.66039	0.533000	0.62120	GAG		0.527	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		C	33113410	T	C	33113410	3	2	7	1	0	0	0	0	1	0	0	0	655	1551	54	2	1455	2	ANKRD27	19	33113410	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	10749673	33113410	26015573	87	545											
CEACAM5	1048	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	42222091	42222091	+	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	ccccctcatacacctattacCgtccaggggtgaacctcagc	9	8	7	17	1	2	1	2	1	0	0	3	1	3	1	6	2	4	0	6	2	4	3	rs368617829		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:42222091C>T	ENST00000221992.6	+	6	1396	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	CEACAM5_ENST00000398599.4_Missense_Mutation_p.R427C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R428C|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	428	Ig-like 5.				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)		CACCTATTACCGTCCAGGGGT	0.537																																						.											0								C	CYS/ARG	0,4406		0,0,2203	117	104	108		1282	-4.8	0	19		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM5	NM_004363.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	428/703	42222091	1,13005	2203	4300	6503	SO:0001583	missense	1048			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.1282C>T	19.37:g.42222091C>T	ENSP00000221992:p.Arg428Cys		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.391|9.391	1.075422|1.075422	0.20227|0.20227	0.0|0.0	1.16E-4|1.16E-4	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.13901	.|2.55;2.55	2.39|2.39	-4.78|-4.78	0.03209|0.03209	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.36496|0.36496	0.0969|0.0969	H|H	0.94847|0.94847	3.59|3.59	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.994	.|D;P	.|0.74348	.|0.983;0.903	T|T	0.10706|0.10706	-1.0618|-1.0618	5|9	.|0.39692	.|T	.|0.17	.|.	3.1996|3.1996	0.06645|0.06645	0.4898:0.232:0.0:0.2782|0.4898:0.232:0.0:0.2782	.|.	.|428;428	.|P06731;Q53G30	.|CEAM5_HUMAN;.	L|C	423|428;428;146	.|ENSP00000221992:R428C;ENSP00000385072:R428C	.|ENSP00000221992:R428C	P|R	+|+	2|1	0|0	CEACAM5|CEACAM5	46913931|46913931	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.139000|-1.139000	0.03213|0.03213	-1.408000|-1.408000	0.02040|0.02040	-1.948000|-1.948000	0.00487|0.00487	CCG|CGT		0.537	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		T	42222091	C	T	42222091	3	4	7	1	0	0	0	0	1	0	0	0	3195	652	23	1	1304	1	CEACAM5	19	42222091	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	9108681	42222091	16906892	88	546											
ZNF225	7768	broad.mit.edu;hgsc.bcm.edu	37	chr19	44635141	44635142	+	Frame_Shift_Ins	INS	-	-	CAAA																															gtaaacagctttcagttctcINScaaacaagatgatatgccct																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:44635141_44635142insCAAA	ENST00000262894.6	+	5	654_655	c.374_375insCAAA	c.(373-378)tccaaafs	p.-127fs	ZNF225_ENST00000590612.1_Frame_Shift_Ins_p.-127fs|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTTCAGTTCTCCAAACAAGATG	0.421																																						.											0																																										SO:0001589	frameshift_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.375_378dupCAAA	19.37:g.44635142_44635145dupCAAA	ENSP00000262894:p.Gln127fs		A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Ins	INS	ENST00000262894.6	37	CCDS46100.1																																																																																				0.421	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			CAAA	44635142	-	CAAA	44635141	7	5	7	1	0	1	1	0	0	0	0	0	17776	855	30	0	388	0	ZNF225	19	44635141	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	2413050	44635141	14493842	89	547	13	2									
ZNF225	7768	bcgsc.ca	37	chr19	44635142	44635143	+	Frame_Shift_Ins	INS	-	-	CAAA																															taaacagctttcagttctccINSaaacaagatgatatgccctg																								rs184915163	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:44635142_44635143insCAAA	ENST00000262894.6	+	5	655_656	c.375_376insCAAA	c.(376-378)aaafs	p.-125fs	ZNF225_ENST00000590612.1_Frame_Shift_Ins_p.-125fs|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTCAGTTCTCCAAACAAGATGA	0.421																																						.											0																																										SO:0001589	frameshift_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		Exception_encountered	19.37:g.44635142_44635143insCAAA	ENSP00000262894:p.Ser125fs		A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Ins	INS	ENST00000262894.6	37	CCDS46100.1																																																																																				0.421	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			CAAA	44635143	-	CAAA	44635142	7	5	7	1	0	1	1	0	0	0	0	0	17776	581	21	0	389	0	ZNF225	19	44635142	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	1	44635142	14493841	90	548	13	2									
ZNF285	26974	mdanderson.org	37	chr19	44890685	44890685	+	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	tgatgagtcagaaggtccttTccacgctcacaatgtgtgta	10	12	10	9	1	2	3	2	2	0	1	4	3	4	3	2	1	0	2	2	1	3	2	rs73039936	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:44890685T>G	ENST00000330997.4	-	4	1786	c.1722A>C	c.(1720-1722)ggA>ggC	p.G574G	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.G574G|ZNF285_ENST00000591679.1_Silent_p.G581G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	574					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						GAAGGTCCTTTCCACGCTCAC	0.418													T|||	491	0.0980431	0.0446	0.0821	5008	,	,		24509	0.1696		0.0646	False		,,,				2504	0.1421					.											0													161	129	140					19																	44890685		2203	4300	6503	SO:0001819	synonymous_variant	26974			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.1722A>C	19.37:g.44890685T>G			Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																				0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		G	44890685	T	G	44890685	2	3	7	1	0	0	0	0	0	0	0	1	17819	1770	62	5		5	ZNF285	19	44890685	Silent	SNP	T	TCGA-KL-8329-01A-11D-2310-10	255543	44890685	14238298	91	549											
LILRB5	10990	mdanderson.org	37	chr19	54758897	54758897	+	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	gggcgggtatgtcagggatcAgtcctggagagaagaaggat	11	7	18	5	1	2	2	2	0	0	2	3	6	3	5	1	5	0	1	1	5	3	1	rs201754865		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54758897A>T	ENST00000316219.5	-	6	1063	c.956T>A	c.(955-957)cTg>cAg	p.L319Q	LILRB5_ENST00000449561.2_Missense_Mutation_p.L319Q|LILRB5_ENST00000345866.6_Missense_Mutation_p.L219Q|LILRB5_ENST00000450632.1_Missense_Mutation_p.L310Q	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	319					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCAGGGATCAGTCCTGGAGA	0.597																																						.											0													21	21	21					19																	54758897		2202	4300	6502	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.956T>A	19.37:g.54758897A>T	ENSP00000320390:p.Leu319Gln		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.693568	0.00731	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00476	7.2;7.15;7.19;7.18	3.32	-4.58	0.03410	.	1.425370	0.05061	N	0.479896	T	0.00109	0.0003	N	0.00277	-1.72	0.09310	N	1	B;B;B;B;B	0.12630	0.001;0.006;0.003;0.001;0.0	B;B;B;B;B	0.12837	0.004;0.008;0.007;0.002;0.002	T	0.43458	-0.9390	10	0.02654	T	1	.	0.9412	0.01355	0.3013:0.1143:0.3475:0.2369	.	310;210;219;319;319	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	Q	319;310;319;219	ENSP00000320390:L319Q;ENSP00000414225:L310Q;ENSP00000406478:L319Q;ENSP00000263430:L219Q	ENSP00000320390:L319Q	L	-	2	0	LILRB5	59450709	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.550000	0.00434	-0.714000	0.04975	-0.460000	0.05396	CTG		0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			T	54758897	A	T	54758897	3	4	7	1	0	0	0	0	1	0	0	0	8794	188	7	5	851	5	LILRB5	19	54758897	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	9868212	54758897	4370086	92	550			3	5		3	3	394	N	G_C_A	8.19239e-07
LILRB5	10990	mdanderson.org	37	chr19	54759241	54759241	+	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	tgtactggcccccgtgggagCggctcacagggcccagggtg	5	6	17	13	2	1	0	1	0	0	0	1	1	1	1	3	5	2	2	3	5	1	1	rs146167320		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54759241C>G	ENST00000316219.5	-	5	967	c.860G>C	c.(859-861)cGc>cCc	p.R287P	LILRB5_ENST00000449561.2_Missense_Mutation_p.R287P|LILRB5_ENST00000345866.6_Missense_Mutation_p.R187P|LILRB5_ENST00000450632.1_Missense_Mutation_p.R278P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	287	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCGTGGGAGCGGCTCACAGG	0.662																																						.											0													42	43	42					19																	54759241		2203	4299	6502	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.860G>C	19.37:g.54759241C>G	ENSP00000320390:p.Arg287Pro		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	0.152	-1.090490	0.01873	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	2.35	-4.71	0.03279	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.187420	0.01181	N	0.007095	T	0.04272	0.0118	N	0.03294	-0.36	0.09310	N	1	B;B;B;B;B	0.23185	0.012;0.081;0.034;0.066;0.003	B;B;B;B;B	0.27500	0.036;0.033;0.045;0.08;0.018	T	0.27226	-1.0080	10	0.23302	T	0.38	.	0.448	0.00497	0.3596:0.2013:0.2366:0.2026	.	278;178;187;287;287	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	P	287;278;287;187	ENSP00000320390:R287P;ENSP00000414225:R278P;ENSP00000406478:R287P;ENSP00000263430:R187P	ENSP00000320390:R287P	R	-	2	0	LILRB5	59451053	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.171000	0.00281	-3.550000	0.00142	-0.827000	0.03088	CGC		0.662	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			G	54759241	C	G	54759241	3	3	7	1	0	0	0	0	1	0	0	0	8794	768	27	5	951	5	LILRB5	19	54759241	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	344	54759241	4369742	93	551			3	5		3	3	394	N	G_C_A	8.19239e-07
LILRB5	10990	mdanderson.org	37	chr19	54759290	54759290	+	Missense_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	ctgggagagcccagcctgggGctgctggccagagccctgga	6	5	17	13	0	0	2	0	0	0	2	0	4	0	3	4	5	4	2	4	5	0	0			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54759290G>A	ENST00000316219.5	-	5	918	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	LILRB5_ENST00000449561.2_Missense_Mutation_p.P271S|LILRB5_ENST00000345866.6_Missense_Mutation_p.P171S|LILRB5_ENST00000450632.1_Missense_Mutation_p.P262S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	271	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGCCTGGGGCTGCTGGCCA	0.627																																						.											0													45	46	46					19																	54759290		2203	4300	6503	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.811C>T	19.37:g.54759290G>A	ENSP00000320390:p.Pro271Ser		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	8.086	0.773447	0.16051	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00675	5.88;5.88;5.88;5.88	2.19	-4.38	0.03622	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.405960	0.04922	N	0.455206	T	0.01156	0.0038	L	0.29908	0.895	0.09310	N	1	B;P;P;P;P	0.47302	0.437;0.586;0.544;0.88;0.893	B;B;B;P;P	0.53689	0.349;0.389;0.353;0.583;0.732	T	0.36480	-0.9746	10	0.36615	T	0.2	.	4.0167	0.09647	0.1434:0.0:0.2763:0.5803	.	262;162;171;271;271	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	S	271;262;271;171	ENSP00000320390:P271S;ENSP00000414225:P262S;ENSP00000406478:P271S;ENSP00000263430:P171S	ENSP00000320390:P271S	P	-	1	0	LILRB5	59451102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.421000	0.07053	-0.890000	0.03945	-0.493000	0.04662	CCC		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54759290	G	A	54759290	3	1	7	1	0	0	0	0	1	0	0	0	8794	1203	42	3	1000	3	LILRB5	19	54759290	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	49	54759290	4369693	94	552			3	5		3	3	394	N	G_C_A	8.19239e-07
LILRA4	23547	mdanderson.org	37	chr19	54845018	54845018	+	Missense_Mutation	SNP	T	T	C																															ggatgagattctccactgtgTaatcctggaggtgtggggct																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54845018T>C	ENST00000291759.4	-	8	1381	c.1325A>G	c.(1324-1326)tAc>tGc	p.Y442C	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	442					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTCCACTGTGTAATCCTGGAG	0.562																																						.											0													104	94	97					19																	54845018		2203	4300	6503	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1325A>G	19.37:g.54845018T>C	ENSP00000291759:p.Tyr442Cys		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.990687	0.35131	.	.	ENSG00000239961	ENST00000291759	T	0.00644	6.01	3.08	2.05	0.26809	.	4.632680	0.00961	N	0.003108	T	0.03520	0.0101	M	0.80616	2.505	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.30446	-0.9978	10	0.66056	D	0.02	.	4.8432	0.13501	0.0:0.1453:0.0:0.8547	.	442	P59901	LIRA4_HUMAN	C	442	ENSP00000291759:Y442C	ENSP00000291759:Y442C	Y	-	2	0	LILRA4	59536830	0.515000	0.26210	0.046000	0.18839	0.038000	0.13279	0.744000	0.26245	0.581000	0.29539	0.460000	0.39030	TAC		0.562	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		C	54845018	T	C	54845018	3	2	7	1	0	0	0	0	1	0	0	0	8787	1638	57	2	178	2	LILRA4	19	54845018	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	85728	54845018	4283965	95	553	14	2									
LILRA4	23547	mdanderson.org	37	chr19	54845027	54845027	+	Missense_Mutation	SNP	A	A	T																															tctccactgtgtaatcctggAggtgtggggctagggatggt																								rs534532199	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:54845027A>T	ENST00000291759.4	-	8	1372	c.1316T>A	c.(1315-1317)cTc>cAc	p.L439H	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	439					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAATCCTGGAGGTGTGGGGC	0.562													A|||	38	0.00758786	0	0	5008	,	,		20088	0.002		0.004	False		,,,				2504	0.0327					.											0													106	95	99					19																	54845027		2203	4300	6503	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1316T>A	19.37:g.54845027A>T	ENSP00000291759:p.Leu439His		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	0.637	-0.815062	0.02776	.	.	ENSG00000239961	ENST00000291759	T	0.00514	6.88	2.96	-5.63	0.02474	.	.	.	.	.	T	0.00328	0.0010	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35400	-0.9790	9	0.45353	T	0.12	.	4.9614	0.14068	0.3711:0.0:0.4882:0.1407	.	439	P59901	LIRA4_HUMAN	H	439	ENSP00000291759:L439H	ENSP00000291759:L439H	L	-	2	0	LILRA4	59536839	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.301000	0.00257	-1.097000	0.03042	-2.427000	0.00216	CTC		0.562	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54845027	A	T	54845027	3	4	7	1	0	0	0	0	1	0	0	0	8787	304	11	5	187	5	LILRA4	19	54845027	Missense_Mutation	SNP	A	TCGA-KL-8329-01A-11D-2310-10	9	54845027	4283956	96	554	14	2									
CSRP2BP	57325	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr20	18162415	18162415	+	Missense_Mutation	SNP	T	T	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	caagtttttgtatcgcttggTaggatcagaagatatggctg	10	14	12	5	1	1	2	1	0	0	2	2	3	1	3	0	3	0	5	0	3	5	6			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr20:18162415T>C	ENST00000435364.3	+	7	2074	c.1733T>C	c.(1732-1734)gTa>gCa	p.V578A	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.V450A|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.V577A	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	578					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						TATCGCTTGGTAGGATCAGAA	0.418																																						.											0													144	137	139					20																	18162415		2203	4300	6503	SO:0001583	missense	57325			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.1733T>C	20.37:g.18162415T>C	ENSP00000392318:p.Val578Ala		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568250	0.45798	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.49	5.49	0.81192	.	0.051941	0.85682	D	0.000000	T	0.13286	0.0322	L	0.28115	0.83	0.39638	D	0.970282	B;B	0.21821	0.061;0.036	B;B	0.23275	0.045;0.006	T	0.07635	-1.0762	10	0.42905	T	0.14	-19.0827	11.5629	0.50788	0.0:0.0:0.1492:0.8508	.	450;578	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	A	578;577;578;450	ENSP00000278816:V578A;ENSP00000366909:V577A;ENSP00000392318:V578A;ENSP00000425909:V450A	ENSP00000278816:V578A	V	+	2	0	CSRP2BP	18110415	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	4.268000	0.58883	2.088000	0.63022	0.460000	0.39030	GTA		0.418	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		C	18162415	T	C	18162415	3	2	7	1	0	0	0	0	1	0	0	0	3968	1638	57	2	1759	2	CSRP2BP	20	18162415	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10		18162415	44863105	97	555											
EEF1A2	1917	broad.mit.edu;mdanderson.org	37	chr20	62127325	62127325	+	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	ggagatgtcgatggtgatgcCgcgctcacgctccgccttca	6	9	13	13	5	2	2	2	1	0	1	4	4	3	2	3	2	1	2	3	2	0	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr20:62127325C>T	ENST00000298049.7	-	2	278	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.G70S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	70	G2. {ECO:0000250}.|tr-type G.		G -> S (found in a patient with mental retardation, severe delay of psychomotor development, very limited speech, autistic features and aggressive behaviors). {ECO:0000269|PubMed:23033978}.		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)			ATGGTGATGCCGCGCTCACGC	0.597											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													239	187	205					20																	62127325		2203	4299	6502	SO:0001583	missense	1917			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.208G>A	20.37:g.62127325C>T	ENSP00000298049:p.Gly70Ser	1058	B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304450	0.95601	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.77877	-1.13;-1.13	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (3);	0.057240	0.64402	D	0.000002	D	0.91673	0.7368	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.98	D	0.94708	0.7889	10	0.87932	D	0	-3.5841	16.4593	0.84031	0.0:1.0:0.0:0.0	.	46;70	Q59GP5;Q05639	.;EF1A2_HUMAN	S	70	ENSP00000298049:G70S;ENSP00000217182:G70S	ENSP00000217182:G70S	G	-	1	0	EEF1A2	61597769	1.000000	0.71417	0.979000	0.43373	0.893000	0.52053	7.663000	0.83820	1.954000	0.56735	0.313000	0.20887	GGC		0.597	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		T	62127325	C	T	62127325	3	4	7	1	0	0	0	0	1	0	0	0	4924	652	23	1	1207	1	EEF1A2	20	62127325	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	43964910	62127325	898195	98	556											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692295	31692296	+	Frame_Shift_Ins	INS	-	-	G																															ggaggtgagaggaatatggcINSgggaggttctgagagatcct																										TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:31692295_31692296insG	ENST00000360542.3	-	1	311_312	c.58_59insC	c.(58-60)cgcfs	p.R20fs		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	20						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGAATATGGCGGGAGGTTCTG	0.53																																						.											0																																										SO:0001589	frameshift_variant	388818			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.59dupC	21.37:g.31692298_31692298dupG	ENSP00000353742:p.Arg20fs		B0RZD3	Frame_Shift_Ins	INS	ENST00000360542.3	37	CCDS13588.1																																																																																				0.53	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		G	31692296	-	G	31692295	7	5	7	1	0	1	1	0	0	0	0	0	8543	768	27	0	577	0	KRTAP26-1	21	31692295	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10		31692295	16437600	99	557											
TIAM1	7074	broad.mit.edu;hgsc.bcm.edu	37	chr21	32624265	32624265	+	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	gtgcgccgagccggcctcctCcaggctctcgctgttggtgg	2	9	15	15	4	1	0	0	0	1	0	4	1	3	0	5	4	2	3	5	4	0	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:32624265C>T	ENST00000286827.3	-	6	1675	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.E402K	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	402					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						CCGGCCTCCTCCAGGCTCTCG	0.697																																						.											0													34	40	38					21																	32624265		2203	4299	6502	SO:0001583	missense	7074				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.1204G>A	21.37:g.32624265C>T	ENSP00000286827:p.Glu402Lys		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545166	0.86022	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.46451	0.87;0.88	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.62723	1.935	0.80722	D	1	P;P;P;P	0.42456	0.649;0.518;0.78;0.518	B;B;B;B	0.41510	0.359;0.197;0.265;0.197	T	0.54289	-0.8316	10	0.62326	D	0.03	.	18.1782	0.89768	0.0:1.0:0.0:0.0	.	402;402;243;402	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	K	402;243;402	ENSP00000286827:E402K;ENSP00000441570:E402K	ENSP00000286827:E402K	E	-	1	0	TIAM1	31546136	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.190000	0.77755	2.497000	0.84241	0.655000	0.94253	GAG		0.697	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32624265	C	T	32624265	3	4	7	1	0	0	0	0	1	0	0	0	15887	864	30	3	3667	3	TIAM1	21	32624265	Missense_Mutation	SNP	C	TCGA-KL-8329-01A-11D-2310-10	931970	32624265	15505630	100	558											
GCFC1	94104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr21	34134451	34134451	+	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	tttgtgacttttctttcacaGaaaaaactatccggcgtttc	10	16	6	9	2	2	2	1	1	1	1	4	2	3	2	1	1	1	1	1	1	4	6			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:34134451G>T	ENST00000331923.4	-	4	1016	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	PAXBP1_ENST00000290178.4_Missense_Mutation_p.S276Y|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	276					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCTTTCACAGAAAAAACTAT	0.368																																						.											0													119	121	120					21																	34134451		2203	4300	6503	SO:0001583	missense	94104			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.827C>A	21.37:g.34134451G>T	ENSP00000328992:p.Ser276Tyr		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119781	0.94385	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.31510	1.92;1.49	5.98	5.98	0.97165	.	0.162808	0.56097	D	0.000027	T	0.55689	0.1936	M	0.70595	2.14	0.54753	D	0.999981	D;P	0.63880	0.993;0.956	D;P	0.63192	0.912;0.459	T	0.51795	-0.8660	10	0.52906	T	0.07	-16.743	20.0532	0.97636	0.0:0.0:1.0:0.0	.	276;276	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	Y	276	ENSP00000328992:S276Y;ENSP00000290178:S276Y	ENSP00000290178:S276Y	S	-	2	0	GCFC1	33056322	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.592000	0.82676	2.835000	0.97688	0.650000	0.86243	TCT		0.368	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		T	34134451	G	T	34134451	3	4	7	1	0	0	0	0	1	0	0	0	6289	942	33	5	2104	5	GCFC1	21	34134451	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10	1510186	34134451	13995444	101	559											
SIK1	150094	broad.mit.edu	37	chr21	44837550	44837551	+	Frame_Shift_Ins	INS	-	-	G																															cccctgctggcccggctggcINSgggggcctggcacacctggc																								rs430552	byFrequency	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:44837550_44837551insG	ENST00000270162.6	-	13	1980_1981	c.1848_1849insC	c.(1846-1851)cccgccfs	p.A617fs		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	617					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GCCCGGCTGGCGGGGGCCTGGC	0.703																																						.											0																																										SO:0001589	frameshift_variant	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1849dupC	21.37:g.44837555_44837555dupG	ENSP00000270162:p.Ala617fs		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Frame_Shift_Ins	INS	ENST00000270162.6	37	CCDS33575.1																																																																																				0.703	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		G	44837551	-	G	44837550	7	5	7	1	0	1	1	0	0	0	0	0	14317	768	27	0	510	0	SIK1	21	44837550	Frame_Shift_Ins	INS	-	TCGA-KL-8329-01A-11D-2310-10	10703099	44837550	3292345	102	560											
MCM3AP	8888	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr21	47705096	47705096	+	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	ttttgtccaaaaagagaaggTtgaccaaatcgaaatggcgg	15	9	11	6	2	0	2	0	1	0	1	2	4	1	2	2	3	0	1	2	3	5	3			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:47705096T>A	ENST00000397708.1	-	2	359	c.105A>T	c.(103-105)caA>caT	p.Q35H	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397691.1_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q35H|YBEY_ENST00000397692.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	35	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)					AAAGAGAAGGTTGACCAAATC	0.458																																						.											0													74	76	75					21																	47705096		2203	4300	6503	SO:0001583	missense	8888			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.105A>T	21.37:g.47705096T>A	ENSP00000380820:p.Gln35His		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624840	0.66901	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000426537	T;T	0.08984	3.03;3.03	5.04	1.0	0.19881	.	0.194568	0.45606	D	0.000358	T	0.10551	0.0258	L	0.29908	0.895	0.34028	D	0.653468	P	0.50710	0.938	P	0.54499	0.754	T	0.17868	-1.0355	10	0.87932	D	0	-14.0114	7.4203	0.27067	0.0:0.4632:0.0:0.5368	.	35	O60318	MCM3A_HUMAN	H	35	ENSP00000380820:Q35H;ENSP00000291688:Q35H	ENSP00000291688:Q35H	Q	-	3	2	MCM3AP	46529524	1.000000	0.71417	0.969000	0.41365	0.973000	0.67179	0.443000	0.21644	-0.005000	0.14395	0.459000	0.35465	CAA		0.458	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		A	47705096	T	A	47705096	3	1	7	1	0	0	0	0	1	0	0	0	9388	1722	60	5	5949	5	MCM3AP	21	47705096	Missense_Mutation	SNP	T	TCGA-KL-8329-01A-11D-2310-10	2867546	47705096	424799	103	561											
TRIOBP	11078	mdanderson.org	37	chr22	38120095	38120095	+	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	tgcccagcgggacaatcccaGagcctccagaacctcctctc	9	6	8	18	1	1	2	0	0	1	2	5	3	4	3	6	1	4	0	6	1	2	0			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr22:38120095G>A	ENST00000406386.3	+	7	1787	c.1532G>A	c.(1531-1533)aGa>aAa	p.R511K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	511					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.R511K(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAGAGCCTCCAGA	0.592																																						.											2	Substitution - Missense(2)	kidney(1)|skin(1)											16	27	24					22																	38120095		1746	3975	5721	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1532G>A	22.37:g.38120095G>A	ENSP00000384312:p.Arg511Lys		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	12.91	2.079188	0.36662	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20200	2.09	0.725	0.725	0.18242	.	.	.	.	.	T	0.14442	0.0349	L	0.44542	1.39	0.80722	D	1	.	.	.	.	.	.	T	0.10894	-1.0610	7	0.05620	T	0.96	.	4.9132	0.13833	0.0:0.0:1.0:0.0	.	511	Q9H2D6	TARA_HUMAN	K	511	ENSP00000384312:R511K	ENSP00000384312:R511K	R	+	2	0	TRIOBP	36450041	0.001000	0.12720	0.176000	0.23000	0.248000	0.25809	0.139000	0.16036	0.721000	0.32231	0.289000	0.19496	AGA		0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38120095	G	A	38120095	3	1	7	1	0	0	0	0	1	0	0	0	16550	942	33	4	1550	4	TRIOBP	22	38120095	Missense_Mutation	SNP	G	TCGA-KL-8329-01A-11D-2310-10		38120095	13184471	104	562											
KDM5C	8242	broad.mit.edu	37	chrX	53222786	53222786	+	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	ttccaacacagggccagtcaActgtggcaacagcgaggaca	13	5	11	12	1	1	0	1	0	0	0	2	2	2	1	2	3	4	1	2	3	3	1			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chrX:53222786A>G	ENST00000375401.3	-	25	4682	c.4150T>C	c.(4150-4152)Ttg>Ctg	p.L1384L	KDM5C_ENST00000375383.3_Silent_p.L1340L|KDM5C_ENST00000404049.3_Silent_p.L1383L|KDM5C_ENST00000452825.3_Silent_p.L1314L|KDM5C_ENST00000375379.3_Silent_p.L1381L	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1384					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						GGGCCAGTCAACTGTGGCAAC	0.592			"N, F, S"		clear cell renal carcinoma																																	.		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													60	45	50					X																	53222786		2203	4300	6503	SO:0001819	synonymous_variant	8242			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.4150T>C	X.37:g.53222786A>G			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	CCDS14351.1																																																																																				0.592	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		G	53222786	A	G	53222786	2	3	7	1	0	0	0	0	0	0	0	1	8135	40	2	2		2	KDM5C	23	53222786	Silent	SNP	A	TCGA-KL-8329-01A-11D-2310-10		53222786	102047774	105	563											
SKI	6497	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	2235813	2235813	+	Missense_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	cctgggctccccgggtgcgcGtgccctgccctcggccgtcc	0	7	14	20	5	0	0	0	0	0	0	3	0	2	0	7	3	3	1	7	3	0	0	rs376322470		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:2235813G>T	ENST00000378536.4	+	5	1628	c.1556G>T	c.(1555-1557)cGt>cTt	p.R519L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	519					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)		CCGGGTGCGCGTGCCCTGCCC	0.706																																					Ovarian(177;144 1678 13697 20086 27838 40755)	.											0													80	62	68					1																	2235813		2075	4070	6145	SO:0001583	missense	6497			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.1556G>T	1.37:g.2235813G>T	ENSP00000367797:p.Arg519Leu		Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	0.567	-0.842773	0.02671	.	.	ENSG00000157933	ENST00000378536	D	0.95518	-3.73	4.37	0.75	0.18387	.	0.561044	0.18536	N	0.138348	T	0.81635	0.4864	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71925	-0.4445	10	0.19147	T	0.46	-1.0583	2.8354	0.05513	0.4735:0.0:0.1886:0.3379	.	519	P12755	SKI_HUMAN	L	519	ENSP00000367797:R519L	ENSP00000367797:R519L	R	+	2	0	SKI	2225673	0.250000	0.23951	0.007000	0.13788	0.021000	0.10359	1.320000	0.33666	-0.040000	0.13580	-0.367000	0.07326	CGT		0.706	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		T	2235813	G	T	2235813	3	4	8	1	0	0	0	0	1	0	0	0	14357	1145	40	5	1574	5	SKI	1	2235813	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		2235813	247014808	1	564											
PLK3	1263	broad.mit.edu	37	chr1	45270133	45270133	+	Missense_Mutation	SNP	T	T	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	gccgccgtgtggctgtgctcTtcaacgatggcacacatatg	7	10	12	12	3	2	0	1	0	1	0	2	1	2	0	2	2	2	3	2	2	2	2			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:45270133T>C	ENST00000372201.4	+	12	1704	c.1465T>C	c.(1465-1467)Ttc>Ctc	p.F489L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	489	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				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)					GGCTGTGCTCTTCAACGATGG	0.567																																						.											0													67	72	70					1																	45270133		2203	4300	6503	SO:0001583	missense	1263			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.1465T>C	1.37:g.45270133T>C	ENSP00000361275:p.Phe489Leu		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	CCDS515.1	.	.	.	.	.	.	.	.	.	.	t	21.3	4.124835	0.77436	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.58358	0.34	5.22	5.22	0.72569	POLO box duplicated domain (2);	.	.	.	.	T	0.63177	0.2489	M	0.83692	2.655	0.80722	D	1	P	0.44659	0.84	P	0.46685	0.524	T	0.67503	-0.5654	9	0.42905	T	0.14	-18.8092	14.6063	0.68481	0.0:0.0:0.0:1.0	.	489	Q9H4B4	PLK3_HUMAN	L	489;464	ENSP00000361275:F489L	ENSP00000361275:F489L	F	+	1	0	PLK3	45042720	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.284000	0.72652	2.105000	0.64084	0.529000	0.55759	TTC		0.567	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		C	45270133	T	C	45270133	3	2	8	1	0	0	0	0	1	0	0	0	12097	1609	56	2	1511	2	PLK3	1	45270133	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	43034320	45270133	203980488	2	565											
C1orf52	148423	broad.mit.edu	37	chr1	85718363	85718363	+	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	tctactttgcgctttttagaAgtatgctcatctttttcatc	7	20	5	9	1	4	1	2	0	2	1	5	1	4	1	0	0	3	3	0	0	4	8	rs111657378		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:85718363A>G	ENST00000471115.1	-	3	506	c.498T>C	c.(496-498)acT>acC	p.T166T	C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	166							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GCTTTTTAGAAGTATGCTCAT	0.318																																						.											0													131	118	122					1																	85718363		2202	4297	6499	SO:0001819	synonymous_variant	148423			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.498T>C	1.37:g.85718363A>G			B3KX89|Q8TDK5|Q8TDK6	Silent	SNP	ENST00000471115.1	37	CCDS703.1																																																																																				0.318	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		G	85718363	A	G	85718363	2	3	8	1	0	0	0	0	0	0	0	1	2044	59	3	2		2	C1orf52	1	85718363	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	40448230	85718363	163532258	3	566											
NOTCH2	4853	broad.mit.edu	37	chr1	120462211	120462211	+	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	gagctgcctcctcggagagaAgccaacatcaatggggtgca	11	6	13	11	1	1	1	1	0	0	1	3	4	2	2	3	3	5	2	3	3	3	0			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:120462211A>G	ENST00000256646.2	-	31	5724	c.5505T>C	c.(5503-5505)gcT>gcC	p.A1835A	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1835					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)		CTCGGAGAGAAGCCAACATCA	0.463			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													39	34	36					1																	120462211		2203	4300	6503	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.5505T>C	1.37:g.120462211A>G			Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.463	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		G	120462211	A	G	120462211	2	3	8	1	0	0	0	0	0	0	0	1	10548	59	3	2		2	NOTCH2	1	120462211	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	34743848	120462211	128788410	4	567											
FLG	2312	bcgsc.ca	37	chr1	152283467	152283467	+	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	gccatctcttgactgctcccGagaagatccatgatggtttc	8	12	9	12	1	1	4	0	2	1	2	5	5	3	4	3	1	1	2	3	1	1	2	rs200557207		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:152283467G>C	ENST00000368799.1	-	3	3930	c.3895C>G	c.(3895-3897)Cgg>Ggg	p.R1299G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1299	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)			gactgctcccgagaagatcca	0.552									Ichthyosis																													.											0													177	177	177					1																	152283467		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.3895C>G	1.37:g.152283467G>C	ENSP00000357789:p.Arg1299Gly		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185600	0.09495	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.98	2.05	0.26809	.	.	.	.	.	T	0.00637	0.0021	L	0.54323	1.7	0.09310	N	1	P	0.43094	0.799	B	0.36464	0.225	T	0.44050	-0.9353	9	0.14252	T	0.57	.	5.2509	0.15521	0.1614:0.0:0.8386:0.0	.	1299	P20930	FILA_HUMAN	G	1299	ENSP00000357789:R1299G	ENSP00000357789:R1299G	R	-	1	2	FLG	150550091	0.005000	0.15991	0.002000	0.10522	0.023000	0.10783	1.776000	0.38594	1.670000	0.50864	0.299000	0.19835	CGG		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152283467	G	C	152283467	3	2	8	1	0	0	0	0	1	0	0	0	5922	1057	37	5	8294	5	FLG	1	152283467	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	31821256	152283467	96967154	5	568											
AQP10	89872	mdanderson.org	37	chr1	154294464	154294464	+	Missense_Mutation	SNP	A	A	G																															cagtggagaaaccaaaggcaActtcttcaccatgtttctgg																								rs201824170	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:154294464A>G	ENST00000324978.3	+	2	201	c.161A>G	c.(160-162)aAc>aGc	p.N54S	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Missense_Mutation_p.N54S	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	54					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCAAAGGCAACTTCTTCACC	0.572																																						.											0													71	60	64					1																	154294464		2202	4279	6481	SO:0001583	missense	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.161A>G	1.37:g.154294464A>G	ENSP00000318355:p.Asn54Ser		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.164492	0.38217	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.10860	2.83;2.83	5.1	5.1	0.69264	Aquaporin-like (2);	0.222920	0.46145	D	0.000305	T	0.04952	0.0133	L	0.28556	0.865	0.33946	D	0.643832	B;P	0.48162	0.04;0.906	B;P	0.49085	0.032;0.6	T	0.22347	-1.0219	10	0.08837	T	0.75	.	13.834	0.63398	1.0:0.0:0.0:0.0	.	54;54	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	S	54	ENSP00000318355:N54S;ENSP00000420341:N54S	ENSP00000318355:N54S	N	+	2	0	AQP10	152561088	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	5.326000	0.65875	2.142000	0.66516	0.418000	0.28097	AAC		0.572	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		G	154294464	A	G	154294464	3	3	8	1	0	0	0	0	1	0	0	0	822	43	2	2	167	2	AQP10	1	154294464	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	2010997	154294464	94956157	6	569	15	2									
AQP10	89872	mdanderson.org	37	chr1	154294471	154294471	+	Silent	SNP	C	C	T																															gaaaccaaaggcaacttcttCaccatgtttctggctggctc																								rs200279756	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:154294471C>T	ENST00000324978.3	+	2	208	c.168C>T	c.(166-168)ttC>ttT	p.F56F	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Silent_p.F56F	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	56					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAACTTCTTCACCATGTTTC	0.577																																						.											0													70	59	63					1																	154294471		2202	4278	6480	SO:0001819	synonymous_variant	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.168C>T	1.37:g.154294471C>T			Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	CCDS1065.1																																																																																				0.577	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		T	154294471	C	T	154294471	2	4	8	1	0	0	0	0	0	0	0	1	822	825	29	4		4	AQP10	1	154294471	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	7	154294471	94956150	7	570	15	2									
FMN2	56776	mdanderson.org	37	chr1	240371328	240371328	+	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	ccaccccctctacccggagcGggcataccccctccgccccc	5	4	7	25	3	1	0	0	0	1	0	2	1	2	1	9	2	3	1	9	2	2	2	rs71646895	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr1:240371328G>A	ENST00000319653.9	+	5	3446	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1072	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)			TACCCGGAGCGGGCATACCCC	0.736																																						.											0													2	3	3					1																	240371328		1326	2694	4020	SO:0001819	synonymous_variant	56776			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.3216G>A	1.37:g.240371328G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371328	G	A	240371328	2	1	8	1	0	0	0	0	0	0	0	1	5950	1103	39	1		1	FMN2	1	240371328	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	86076857	240371328	8879293	8	571											
PPM1G	5496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	27607890	27607890	+	Missense_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	gtgacagttctgcccgtagcGtgtcagcagctcttcaatag	8	11	11	11	2	4	1	2	1	2	0	4	1	4	1	1	0	4	4	1	0	3	4			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:27607890G>A	ENST00000344034.4	-	5	739	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	PPM1G_ENST00000350803.4_Missense_Mutation_p.R159C	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	159					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGCCCGTAGCGTGTCAGCAGC	0.597																																						.											0													143	144	144					2																	27607890		2203	4300	6503	SO:0001583	missense	5496			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.475C>T	2.37:g.27607890G>A	ENSP00000342778:p.Arg159Cys			Missense_Mutation	SNP	ENST00000344034.4	37	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398817	0.83120	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.54279	0.58;0.58	5.75	5.75	0.90469	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.72792	-0.4186	10	0.87932	D	0	-7.4083	18.4871	0.90833	0.0:0.0:1.0:0.0	.	29;159	Q59GB2;O15355	.;PPM1G_HUMAN	C	159;159;142;29	ENSP00000342778:R159C;ENSP00000264714:R159C	ENSP00000342778:R159C	R	-	1	0	PPM1G	27461394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.309000	0.72825	2.728000	0.93425	0.655000	0.94253	CGC		0.597	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		A	27607890	G	A	27607890	3	1	8	1	0	0	0	0	1	0	0	0	12340	1145	40	1	1189	1	PPM1G	2	27607890	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		27607890	215591483	9	572											
TIA1	7072	bcgsc.ca	37	chr2	70463215	70463215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaatacccttacatccAtaatcattttgcagttttta	14	16	3	8	0	1	0	1	0	0	0	2	0	2	0	2	0	3	3	2	0	6	9			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:70463215A>G	ENST00000433529.2	-	2	329	c.119T>C	c.(118-120)aTg>aCg	p.M40T	TIA1_ENST00000282574.4_Missense_Mutation_p.M40T|TIA1_ENST00000415783.2_Missense_Mutation_p.M40T|TIA1_ENST00000445587.1_Missense_Mutation_p.M40T|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Missense_Mutation_p.M40T	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	40	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CCTTACATCCATAATCATTTT	0.338																																						.											0													72	73	72					2																	70463215		2203	4300	6503	SO:0001583	missense	7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.119T>C	2.37:g.70463215A>G	ENSP00000401371:p.Met40Thr		Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	A	9.479	1.097619	0.20552	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587;ENST00000416149	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048795	0.85682	D	0.000000	T	0.53433	0.1796	N	0.05306	-0.075	0.80722	D	1	B;B;B;B	0.10296	0.003;0.001;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.004;0.0	T	0.50759	-0.8790	10	0.20046	T	0.44	-11.1683	14.1969	0.65677	1.0:0.0:0.0:0.0	.	40;78;40;40	B4E0E5;Q59G98;P31483-2;P31483	.;.;.;TIA1_HUMAN	T	40;40;78;40;40;40	ENSP00000401371:M40T;ENSP00000404023:M40T;ENSP00000282574:M40T;ENSP00000399567:M40T;ENSP00000413751:M40T	ENSP00000282574:M40T	M	-	2	0	TIA1	70316719	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.636000	0.46545	2.097000	0.63578	0.454000	0.30748	ATG		0.338	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		G	70463215	A	G	70463215	3	3	8	1	0	0	0	0	1	0	0	0	15884	217	8	4	1089	4	TIA1	2	70463215	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	42855325	70463215	172736158	10	573											
ATP6V1B1	525	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr2	71192114	71192114	+	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	acgagaaccgctcggtgttcGagtcgctggacctgggctgg	6	8	16	11	5	0	1	0	0	0	1	3	4	0	2	2	4	1	4	2	4	1	1	rs140980255		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:71192114G>A	ENST00000234396.4	+	14	1478	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E452K|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	469					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						CTCGGTGTTCGAGTCGCTGGA	0.617											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0								G	LYS/GLU	0,4406		0,0,2203	47	48	48		1405	3.8	1	2	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP6V1B1	NM_001692.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	469/514	71192114	1,13005	2203	4300	6503	SO:0001583	missense	525			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.1405G>A	2.37:g.71192114G>A	ENSP00000234396:p.Glu469Lys	1128	Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448704	0.84101	0.0	1.16E-4	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000433895	T;T;T	0.77098	-1.07;-1.07;-1.07	3.81	3.81	0.43845	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.52532	D	0.000064	T	0.76737	0.4029	M	0.81942	2.565	0.58432	D	0.999999	P;B;B	0.45212	0.853;0.067;0.141	B;B;B	0.38428	0.273;0.074;0.14	T	0.81990	-0.0679	10	0.62326	D	0.03	-34.01	13.2521	0.60057	0.0:0.0:1.0:0.0	.	444;452;469	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	K	469;444;452;74	ENSP00000234396:E469K;ENSP00000388353:E452K;ENSP00000407840:E74K	ENSP00000234396:E469K	E	+	1	0	ATP6V1B1	71045622	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	1.958000	0.56883	0.455000	0.32223	GAG		0.617	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		A	71192114	G	A	71192114	3	1	8	1	0	0	0	0	1	0	0	0	1178	1059	37	1	1459	1	ATP6V1B1	2	71192114	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	728899	71192114	172007259	11	574											
DUSP11	8446	ucsc.edu;bcgsc.ca	37	chr2	73996401	73996401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaacttacctgcaaatgAggtagccagtcctgtttaaa	12	11	9	9	0	0	1	0	1	0	0	1	1	1	1	3	2	4	4	3	2	6	4			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:73996401A>G	ENST00000272444.3	-	5	667	c.626T>C	c.(625-627)cTc>cCc	p.L209P	DUSP11_ENST00000443070.1_Missense_Mutation_p.L209P|DUSP11_ENST00000377706.4_Missense_Mutation_p.L162P|DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	162					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTGCAAATGAGGTAGCCAGT	0.358																																						.											0													98	99	99					2																	73996401		2203	4300	6503	SO:0001583	missense	8446			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.626T>C	2.37:g.73996401A>G	ENSP00000272444:p.Leu209Pro		B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086515	0.55861	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706	D;D;D	0.90563	-2.69;-2.69;-2.69	4.8	3.63	0.41609	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.95671	0.8592	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95180	0.8298	10	0.87932	D	0	-4.4581	9.4108	0.38491	0.8408:0.0:0.0:0.1592	.	209;162	C9JYA6;O75319	.;DUS11_HUMAN	P	209;209;162	ENSP00000272444:L209P;ENSP00000413444:L209P;ENSP00000366935:L162P	ENSP00000272444:L209P	L	-	2	0	DUSP11	73849909	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	6.789000	0.75110	0.953000	0.37825	0.528000	0.53228	CTC		0.358	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			G	73996401	A	G	73996401	3	3	8	1	0	0	0	0	1	0	0	0	4811	304	11	2	527	2	DUSP11	2	73996401	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	2804287	73996401	169202972	12	575											
SCG2	7857	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	224462648	224462648	+	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	ttatatggattgggaaaataCgacgttttctgatttgctgc	10	16	10	5	2	1	1	0	1	1	0	1	4	1	3	0	2	3	2	0	2	5	7	rs143843249	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr2:224462648C>T	ENST00000305409.2	-	2	1585	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		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)		TGGGAAAATACGACGTTTTCT	0.488													C|||	2	0.000399361	0.0015	0	5008	,	,		19932	0		0	False		,,,				2504	0					.											0								C		4,4402	8.1+/-20.4	0,4,2199	106	107	107		1353	-2.9	0.5	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCG2	NM_003469.4		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		451/618	224462648	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	7857			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.1353G>A	2.37:g.224462648C>T			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																				0.488	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		T	224462648	C	T	224462648	2	4	8	1	0	0	0	0	0	0	0	1	13891	523	19	1		1	SCG2	2	224462648	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	150466247	224462648	18736725	13	576											
ZNF445	353274	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	44488434	44488434	+	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	tcctctggtgactggaaaggGtatgtctcccaatgaactct	9	12	10	10	0	3	2	0	2	3	0	5	3	4	3	2	3	1	1	2	3	4	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr3:44488434G>C	ENST00000396077.2	-	8	3076	c.2729C>G	c.(2728-2730)aCc>aGc	p.T910S	ZNF445_ENST00000425708.2_Missense_Mutation_p.T910S	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	910					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACTGGAAAGGGTATGTCTCCC	0.483																																						.											0													102	100	100					3																	44488434		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2729C>G	3.37:g.44488434G>C	ENSP00000379387:p.Thr910Ser		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	4.922	0.171299	0.09391	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.49432	0.78;0.78	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.539313	0.17082	N	0.187728	T	0.22513	0.0543	N	0.05230	-0.09	0.09310	N	1	P;P	0.45176	0.852;0.852	B;B	0.39217	0.294;0.294	T	0.04333	-1.0959	10	0.15499	T	0.54	.	9.5794	0.39479	0.0:0.0:0.6833:0.3167	.	898;910	B7ZKX2;P59923	.;ZN445_HUMAN	S	910	ENSP00000413073:T910S;ENSP00000379387:T910S	ENSP00000379387:T910S	T	-	2	0	ZNF445	44463438	0.000000	0.05858	0.017000	0.16124	0.031000	0.12232	-2.107000	0.01337	2.559000	0.86315	0.563000	0.77884	ACC		0.483	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		C	44488434	G	C	44488434	3	2	8	1	0	0	0	0	1	0	0	0	17915	1261	44	5	370	5	ZNF445	3	44488434	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		44488434	153533996	14	577											
TMEM108	66000	mdanderson.org	37	chr3	133098856	133098856	+	Missense_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	cgcacaccatctccaccatcGctgcgacagtaaccgccccc	9	5	6	21	4	1	0	0	0	1	0	3	1	1	0	6	0	2	3	6	0	1	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr3:133098856G>A	ENST00000321871.6	+	4	511	c.301G>A	c.(301-303)Gct>Act	p.A101T	TMEM108_ENST00000393130.3_Missense_Mutation_p.A101T|TMEM108_ENST00000515826.1_Missense_Mutation_p.A101T|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	101	Pro-rich.					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						CTCCACCATCGCTGCGACAGT	0.662																																						.											0													79	66	71					3																	133098856		2203	4299	6502	SO:0001583	missense	66000			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.301G>A	3.37:g.133098856G>A	ENSP00000324651:p.Ala101Thr		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	0.318	-0.963467	0.02249	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	2.99	-3.43	0.04810	.	1.088120	0.07306	N	0.874970	T	0.13628	0.0330	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.23762	-1.0179	10	0.13470	T	0.59	0.1393	5.1788	0.15148	0.6526:0.1673:0.1802:0.0	.	101;101	E9PB58;Q6UXF1	.;TM108_HUMAN	T	101;101;52;52;101;101;101	ENSP00000324651:A101T;ENSP00000376838:A101T;ENSP00000422072:A52T;ENSP00000427447:A52T;ENSP00000426301:A101T;ENSP00000423338:A101T;ENSP00000421486:A101T	ENSP00000324651:A101T	A	+	1	0	TMEM108	134581546	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.257000	0.02866	-0.768000	0.04626	-0.230000	0.12252	GCT		0.662	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133098856	G	A	133098856	3	1	8	1	0	0	0	0	1	0	0	0	16021	1087	38	1	307	1	TMEM108	3	133098856	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	88610422	133098856	64923574	15	578											
RBM47	54502	broad.mit.edu;hgsc.bcm.edu	37	chr4	40438607	40438608	+	Frame_Shift_Ins	INS	-	-	T																															tcccccgaggtaggaaccccINStaggccctggggctctgttg																										TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:40438607_40438608insT	ENST00000381793.2	-	4	1576_1577	c.1180_1181insA	c.(1180-1182)aggfs	p.R394fs	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000514014.1_Frame_Shift_Ins_p.R356fs|RBM47_ENST00000295971.7_Frame_Shift_Ins_p.R394fs|RBM47_ENST00000381795.6_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	394					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTAGGAACCCCTAGGCCCTGGG	0.515																																						.											0																																										SO:0001589	frameshift_variant	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1181dupA	4.37:g.40438608_40438608dupT	ENSP00000371212:p.Arg394fs		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Frame_Shift_Ins	INS	ENST00000381793.2	37	CCDS43223.1																																																																																				0.515	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40438608	-	T	40438607	7	5	8	1	0	1	1	0	0	0	0	0	13141	681	24	0	612	0	RBM47	4	40438607	Frame_Shift_Ins	INS	-	TCGA-KL-8330-01A-11D-2310-10		40438607	150715669	16	579	16	2									
RBM47	54502	bcgsc.ca	37	chr4	40438608	40438609	+	Frame_Shift_Ins	INS	-	-	T																															cccccgaggtaggaacccctINSaggccctggggctctgttgc																										TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:40438608_40438609insT	ENST00000381793.2	-	4	1575_1576	c.1179_1180insA	c.(1177-1182)cctaggfs	p.R394fs	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000514014.1_Frame_Shift_Ins_p.R356fs|RBM47_ENST00000295971.7_Frame_Shift_Ins_p.R394fs|RBM47_ENST00000381795.6_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	394					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGGAACCCCTAGGCCCTGGGG	0.515																																						.											0																																										SO:0001589	frameshift_variant	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1179dupA	4.37:g.40438608_40438608dupT	ENSP00000371212:p.Arg394fs		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Frame_Shift_Ins	INS	ENST00000381793.2	37	CCDS43223.1																																																																																				0.515	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40438609	-	T	40438608	7	5	8	1	0	1	1	0	0	0	0	0	13141	1521	53	0	613	0	RBM47	4	40438608	Frame_Shift_Ins	INS	-	TCGA-KL-8330-01A-11D-2310-10	1	40438608	150715668	17	580	16	2									
UGT2B7	7364	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	69978239	69978239	+	Nonsense_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	aaccagtgaagcccctggatCgagcagtcttctggattgaa	11	9	11	10	1	2	2	0	2	2	0	3	5	2	4	3	2	3	1	3	2	3	2			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:69978239C>T	ENST00000305231.7	+	6	1421	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*	UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	459					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCCCCTGGATCGAGCAGTCTT	0.423																																						.											0													109	111	111					4																	69978239		2203	4297	6500	SO:0001587	stop_gained	7364			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	ENST00000305231.7:c.1375C>T	4.37:g.69978239C>T	ENSP00000304811:p.Arg459*		B2R810|Q6GTW0	Nonsense_Mutation	SNP	ENST00000305231.7	37	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295865	0.60086	.	.	ENSG00000171234	ENST00000305231	.	.	.	2.13	0.0314	0.14171	.	0.339461	0.24645	U	0.036762	.	.	.	.	.	.	0.26224	N	0.979115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7846	0.29085	0.6381:0.3619:0.0:0.0	.	.	.	.	X	459	.	.	R	+	1	2	UGT2B7	70012828	0.842000	0.29525	0.479000	0.27329	0.846000	0.48090	0.072000	0.14617	-0.197000	0.10350	0.306000	0.20318	CGA		0.423	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		T	69978239	C	T	69978239	4	4	8	1	0	0	0	0	0	1	0	0	16959	876	31	1	1397	1	UGT2B7	4	69978239	Nonsense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	29539631	69978239	121176037	18	581											
RUFY3	22902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	71588442	71588442	+	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	gctggatgacatctcacttaCacctgacccagagcctaccc	10	8	7	16	0	1	3	1	2	1	1	2	4	1	4	4	1	3	1	4	1	2	2			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:71588442C>A	ENST00000226328.4	+	1	715	c.152C>A	c.(151-153)aCa>aAa	p.T51K	RUFY3_ENST00000381006.3_Missense_Mutation_p.T51K|RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000536664.1_Missense_Mutation_p.T17K	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	51					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)			ATCTCACTTACACCTGACCCA	0.532																																						.											0													166	136	146					4																	71588442		2203	4300	6503	SO:0001583	missense	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.152C>A	4.37:g.71588442C>A	ENSP00000226328:p.Thr51Lys		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755538	0.89843	.	.	ENSG00000018189	ENST00000381006;ENST00000226328;ENST00000536664	T;T;T	0.11821	3.11;2.74;2.77	5.51	5.51	0.81932	.	0.806005	0.11213	N	0.587473	T	0.26195	0.0639	N	0.14661	0.345	0.58432	D	0.999998	D;D;D	0.76494	0.982;0.999;0.981	D;D;D	0.80764	0.939;0.994;0.95	T	0.29150	-1.0021	10	0.56958	D	0.05	-2.8095	19.4131	0.94683	0.0:1.0:0.0:0.0	.	17;51;51	B4DKC2;Q7L099-3;Q7L099	.;.;RUFY3_HUMAN	K	51;51;17	ENSP00000370394:T51K;ENSP00000226328:T51K;ENSP00000443652:T17K	ENSP00000226328:T51K	T	+	2	0	RUFY3	71807306	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.487000	0.81328	2.590000	0.87494	0.555000	0.69702	ACA		0.532	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		A	71588442	C	A	71588442	3	1	8	1	0	0	0	0	1	0	0	0	13740	478	17	5	516	5	RUFY3	4	71588442	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	1610203	71588442	119565834	19	582											
AGPAT9	84803	broad.mit.edu	37	chr4	84518658	84518658	+	Missense_Mutation	SNP	T	T	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	tggaggaaccatacatccagTtgcaattaaggtaaaacaga	17	8	9	7	0	0	1	0	0	0	1	1	3	1	3	2	3	4	3	2	3	6	4			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:84518658T>C	ENST00000395226.2	+	10	1204	c.986T>C	c.(985-987)gTt>gCt	p.V329A	AGPAT9_ENST00000264409.4_Missense_Mutation_p.V329A	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	329					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)				ATACATCCAGTTGCAATTAAG	0.333																																						.											0													54	56	55					4																	84518658		2203	4300	6503	SO:0001583	missense	84803			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.986T>C	4.37:g.84518658T>C	ENSP00000378651:p.Val329Ala		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103293	0.76983	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	D;D	0.96011	-3.88;-3.88	5.32	5.32	0.75619	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98221	1.0478	10	0.66056	D	0.02	-20.1272	15.2947	0.73894	0.0:0.0:0.0:1.0	.	329	Q53EU6	GPAT3_HUMAN	A	329	ENSP00000378651:V329A;ENSP00000264409:V329A	ENSP00000264409:V329A	V	+	2	0	AGPAT9	84737682	1.000000	0.71417	0.993000	0.49108	0.830000	0.47004	7.958000	0.87877	2.005000	0.58758	0.460000	0.39030	GTT		0.333	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		C	84518658	T	C	84518658	3	2	8	1	0	0	0	0	1	0	0	0	392	1725	60	2	1020	2	AGPAT9	4	84518658	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	12930216	84518658	106635618	20	583											
NHEDC1	150159	mdanderson.org	37	chr4	103826757	103826757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacatcaatagatatgTggttaaaattcgaacacata	19	10	6	6	1	1	1	1	0	0	1	2	2	1	1	0	1	2	2	0	1	8	5			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:103826757T>C	ENST00000296422.7	-	11	1387	c.1246A>G	c.(1246-1248)Aca>Gca	p.T416A	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.T416A	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	416					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)										AATAGATATGTGGTTAAAATT	0.323																																						.											0													39	43	42					4																	103826757		2198	4292	6490	SO:0001583	missense	150159			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.1246A>G	4.37:g.103826757T>C	ENSP00000296422:p.Thr416Ala		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	5.018	0.188936	0.09547	.	.	ENSG00000164037	ENST00000394789;ENST00000296422	T;T	0.13657	2.57;2.57	3.47	2.27	0.28462	.	0.060197	0.64402	N	0.000003	T	0.04407	0.0121	N	0.01048	-1.04	0.34123	D	0.664367	B;B;B	0.28350	0.123;0.208;0.025	B;B;B	0.37304	0.076;0.246;0.108	T	0.28713	-1.0035	10	0.25106	T	0.35	-18.6579	3.8532	0.08963	0.1863:0.1077:0.0:0.7059	.	184;416;416	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	A	416	ENSP00000378269:T416A;ENSP00000296422:T416A	ENSP00000296422:T416A	T	-	1	0	SLC9B1	104046206	1.000000	0.71417	0.206000	0.23566	0.010000	0.07245	3.032000	0.49736	0.514000	0.28300	0.397000	0.26171	ACA		0.323	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		C	103826757	T	C	103826757	3	2	8	1	0	0	0	0	1	0	0	0	10400	1696	59	2	409	2	NHEDC1	4	103826757	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	19308099	103826757	87327519	21	584											
LARP7	51574	broad.mit.edu	37	chr4	113568911	113568911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatagctctctcttgaaaAcaaaaaggaaacataagaaa	22	7	6	6	0	2	3	0	1	2	2	3	4	2	4	0	1	3	1	0	1	9	3			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:113568911A>G	ENST00000344442.5	+	8	1341	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.T355A|MIR367_ENST00000362299.1_RNA|MIR302C_ENST00000362232.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.T362A|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	355	Lys-rich.				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)		TCTCTTGAAAACAAAAAGGAA	0.308																																						.											0													32	34	33					4																	113568911		2201	4294	6495	SO:0001583	missense	51574			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.1063A>G	4.37:g.113568911A>G	ENSP00000344950:p.Thr355Ala		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	A	5.077	0.199948	0.09652	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000513553;ENST00000324052	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.89	-4.82	0.03171	.	0.593004	0.18744	N	0.132376	T	0.08935	0.0221	N	0.00972	-1.085	0.20764	N	0.999853	B	0.02656	0.0	B	0.01281	0.0	T	0.35549	-0.9784	10	0.02654	T	1	-9.5667	6.2703	0.20951	0.2366:0.0:0.3856:0.3779	.	355	Q4G0J3	LARP7_HUMAN	A	355;362;23;355	ENSP00000344950:T355A;ENSP00000422626:T362A;ENSP00000422013:T23A;ENSP00000314311:T355A	ENSP00000314311:T355A	T	+	1	0	LARP7	113788360	0.729000	0.28090	0.041000	0.18516	0.910000	0.53928	0.480000	0.22244	-0.602000	0.05775	0.533000	0.62120	ACA		0.308	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		G	113568911	A	G	113568911	3	3	8	1	0	0	0	0	1	0	0	0	8633	43	2	2	1089	2	LARP7	4	113568911	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	9742154	113568911	77585365	22	585											
ANK2	287	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	114275928	114275928	+	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	cagagaatcagacaatcaaaCgaggccagagactcccggta	16	4	10	11	2	2	3	2	0	0	3	3	6	3	3	2	2	1	1	2	2	4	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr4:114275928C>T	ENST00000357077.4	+	38	6207	c.6154C>T	c.(6154-6156)Cga>Tga	p.R2052*	ANK2_ENST00000264366.6_Nonsense_Mutation_p.R2019*|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2052					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)		GACAATCAAACGAGGCCAGAG	0.468																																						.											0													70	81	78					4																	114275928		2203	4300	6503	SO:0001587	stop_gained	287			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.6154C>T	4.37:g.114275928C>T	ENSP00000349588:p.Arg2052*		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	42	9.343468	0.99143	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.53	3.77	0.43336	.	0.299436	0.24096	N	0.041583	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.535	0.33357	0.2778:0.6531:0.0:0.0691	.	.	.	.	X	2052;2019	.	.	R	+	1	2	ANK2	114495377	0.938000	0.31826	0.705000	0.30386	0.131000	0.20780	0.989000	0.29629	0.767000	0.33267	-0.311000	0.09066	CGA		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114275928	C	T	114275928	4	4	8	1	0	0	0	0	0	1	0	0	621	528	19	1	6369	1	ANK2	4	114275928	Nonsense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	707017	114275928	76878348	23	586											
SPEF2	79925	ucsc.edu	37	chr5	35774017	35774017	+	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	aaatcaccacctatggcagaAgcaactcctgtcatagtaac	15	8	6	12	0	2	1	2	0	0	1	3	1	3	1	3	1	3	3	3	1	6	3			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr5:35774017A>G	ENST00000356031.3	+	28	4126	c.3972A>G	c.(3970-3972)gaA>gaG	p.E1324E	SPEF2_ENST00000440995.2_Silent_p.E1319E|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1324					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)			CTATGGCAGAAGCAACTCCTG	0.393																																						.											0													81	73	75					5																	35774017		1853	4092	5945	SO:0001819	synonymous_variant	79925			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.3972A>G	5.37:g.35774017A>G			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	CCDS43309.1																																																																																				0.393	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		G	35774017	A	G	35774017	2	3	8	1	0	0	0	0	0	0	0	1	15034	69	3	2		2	SPEF2	5	35774017	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10		35774017	145141243	24	587											
CAMK4	814	bcgsc.ca	37	chr5	110820081	110820081	+	Missense_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	agctgaagactgtggaggagGcagcagctcccagagaaggg	12	4	17	8	0	0	3	0	1	0	2	1	6	1	5	1	4	3	4	1	4	2	0			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr5:110820081G>A	ENST00000282356.4	+	11	1737	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A447T	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	447					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)		TGTGGAGGAGGCAGCAGCTCC	0.542																																						.											0													54	53	54					5																	110820081		2202	4300	6502	SO:0001583	missense	814			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.1339G>A	5.37:g.110820081G>A	ENSP00000282356:p.Ala447Thr		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052040	0.36181	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.68025	-0.3;-0.3	4.84	-0.624	0.11552	.	0.774566	0.10590	N	0.656924	T	0.43743	0.1261	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.34354	-0.9832	10	0.66056	D	0.02	.	4.2987	0.10915	0.0911:0.4521:0.3025:0.1544	.	447	Q16566	KCC4_HUMAN	T	447	ENSP00000422634:A447T;ENSP00000282356:A447T	ENSP00000282356:A447T	A	+	1	0	CAMK4	110847980	0.021000	0.18746	0.006000	0.13384	0.041000	0.13682	0.406000	0.21032	0.204000	0.20548	0.585000	0.79938	GCA		0.542	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		A	110820081	G	A	110820081	3	1	8	1	0	0	0	0	1	0	0	0	2605	1203	42	3	1381	3	CAMK4	5	110820081	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	75046064	110820081	70095179	25	588											
SRFBP1	153443	ucsc.edu	37	chr5	121309892	121309892	+	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	attgctttattcttcaaaggTtgtgaagatgagaaaagaag	15	13	10	3	0	2	4	1	2	1	3	2	5	2	4	0	1	1	2	0	1	6	6			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr5:121309892T>C	ENST00000339397.4	+	2	110	c.38T>C	c.(37-39)gTt>gCt	p.V13A		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TCTTCAAAGGTTGTGAAGATG	0.333																																						.											0													67	63	64					5																	121309892		1820	4072	5892	SO:0001630	splice_region_variant	153443			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"BUD22 homolog (S. cerevisiae)"	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.37-1T>C	5.37:g.121309892T>C				Missense_Mutation	SNP	ENST00000339397.4	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095015	0.76870	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.77103	2.36	0.53688	D	0.999974	D	0.67145	0.996	P	0.59948	0.866	T	0.80405	-0.1396	9	0.87932	D	0	-16.2291	14.9786	0.71296	0.0:0.0:0.0:1.0	.	13	Q8NEF9	SRFB1_HUMAN	A	13	.	ENSP00000341324:V13A	V	+	2	0	SRFBP1	121337791	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.385000	0.66231	2.275000	0.75901	0.528000	0.53228	GTT		0.333	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546	Missense_Mutation	C	121309892	T	C	121309892	5	2	8	1	0	0	0	0	0	0	1	0	15143	1739	60	2	44	2	SRFBP1	5	121309892	Splice_Site	SNP	T	TCGA-KL-8330-01A-11D-2310-10	10489811	121309892	59605368	26	589											
PCDHGC3	5098	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	140857474	140857474	+	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	tcacgggtggtaggctgggaCgcggatgcagggcacaatgc	8	6	18	9	3	1	0	1	0	0	0	1	2	1	2	0	6	2	4	0	6	2	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr5:140857474C>T	ENST00000308177.3	+	1	1895	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCTGGGACGCGGATGCAG	0.602											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													50	55	53					5																	140857474		2203	4300	6503	SO:0001819	synonymous_variant	5098			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1791C>T	5.37:g.140857474C>T		1659	O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	CCDS4261.1																																																																																				0.602	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		T	140857474	C	T	140857474	2	4	8	1	0	0	0	0	0	0	0	1	11569	535	19	1		1	PCDHGC3	5	140857474	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	19547582	140857474	40057786	27	590											
FAM8A1	51439	mdanderson.org	37	chr6	17608519	17608519	+	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	tttcagcataatcgaacagcTtatgacattgtagcaggaac	14	11	8	8	1	1	1	1	1	0	0	2	3	1	2	0	1	5	4	0	1	5	5			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr6:17608519T>C	ENST00000259963.3	+	5	1246	c.1191T>C	c.(1189-1191)gcT>gcC	p.A397A		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	397	RDD.					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)			ATCGAACAGCTTATGACATTG	0.383																																						.											0													100	95	97					6																	17608519		2203	4300	6503	SO:0001819	synonymous_variant	51439			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.1191T>C	6.37:g.17608519T>C			B2R725	Silent	SNP	ENST00000259963.3	37	CCDS4540.1																																																																																				0.383	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			C	17608519	T	C	17608519	2	2	8	1	0	0	0	0	0	0	0	1	5649	1596	56	2		2	FAM8A1	6	17608519	Silent	SNP	T	TCGA-KL-8330-01A-11D-2310-10		17608519	153506548	28	591											
HLA-C	3107	mdanderson.org	37	chr6	31238970	31238970	+	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	cgcctccaacttgcgctgggTgatctgagccgcggtgtccg	4	9	14	14	5	1	2	0	2	1	0	3	2	3	2	4	2	3	1	4	2	1	1	rs281860499|rs142570222	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr6:31238970T>A	ENST00000376228.5	-	3	513	c.499A>T	c.(499-501)Acc>Tcc	p.T167S	HLA-C_ENST00000383329.3_Missense_Mutation_p.T167S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	167	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)			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						TTGCGCTGGGTGATCTGAGCC	0.672													t|||	168	0.0335463	0.0809	0.0202	5008	,	,		10400	0.0188		0.0199	False		,,,				2504	0.0082					.											0													29	20	23					6																	31238970		2137	4174	6311	SO:0001583	missense	3107			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.499A>T	6.37:g.31238970T>A	ENSP00000365402:p.Thr167Ser		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	170|170	0.07783882783882784|0.07783882783882784	55|55	0.11178861788617886|0.11178861788617886	13|13	0.03591160220994475|0.03591160220994475	58|58	0.10139860139860139|0.10139860139860139	44|44	0.05804749340369393|0.05804749340369393	.|.	11.47|11.47	1.647923|1.647923	0.29336|0.29336	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00940	.|5.52;5.52	2.81|2.81	2.81|2.81	0.32909|0.32909	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.377560	.|0.18473	.|U	.|0.140159	T|T	0.00552|0.00552	0.0018|0.0018	L|L	0.55834|0.55834	1.745|1.745	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.18166	.|0.005;0.005;0.003;0.026	.|B;B;B;B	.|0.22753	.|0.03;0.021;0.021;0.041	T|T	0.45220|0.45220	-0.9276|-0.9276	5|10	.|0.87932	.|D	.|0	.|.	9.364|9.364	0.38212|0.38212	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs1050367;rs1050668;rs2308587;rs3177938|rs1050367;rs1050668;rs2308587;rs3177938	.|167;167;167;167	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	L|S	166|167;167;167;204	.|ENSP00000365402:T167S;ENSP00000372819:T167S	.|ENSP00000365402:T167S	H|T	-|-	2|1	0|0	HLA-C|HLA-C	31346949|31346949	0.745000|0.745000	0.28261|0.28261	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	1.002000|1.002000	0.29796|0.29796	1.536000|1.536000	0.49237|0.49237	0.254000|0.254000	0.18369|0.18369	CAC|ACC		0.672	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31238970	T	A	31238970	3	1	8	1	0	0	0	0	1	0	0	0	7197	1696	59	5	625	5	HLA-C	6	31238970	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	13630451	31238970	139876097	29	592											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	56417258	56417258	+	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	gctaacatcatcttgcaggtTttattggcattgtcattgct	8	17	8	8	0	3	0	2	0	1	0	3	0	3	0	0	2	3	5	0	2	2	7			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr6:56417258T>A	ENST00000361203.3	-	57	15706	c.15699A>T	c.(15697-15699)aaA>aaT	p.K5233N	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.K3147N|DST_ENST00000370769.4_Missense_Mutation_p.K5235N|DST_ENST00000244364.6_Missense_Mutation_p.K2821N|DST_ENST00000370788.2_Missense_Mutation_p.K3147N|DST_ENST00000370754.5_Missense_Mutation_p.K5413N|DST_ENST00000446842.2_Missense_Mutation_p.K4909N			Q03001	DYST_HUMAN	dystonin	5233					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)			TCTTGCAGGTTTTATTGGCAT	0.418																																						.											0													70	67	68					6																	56417258		1903	4119	6022	SO:0001583	missense	667			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.15699A>T	6.37:g.56417258T>A	ENSP00000354508:p.Lys5233Asn		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	13.73	2.322902	0.41096	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	6.17	2.29	0.28610	.	0.207502	0.33290	N	0.005076	T	0.36054	0.0953	M	0.65975	2.015	0.28083	N	0.932106	D;P;D;B;B	0.89917	1.0;0.749;0.965;0.181;0.352	D;P;P;B;B	0.83275	0.996;0.515;0.854;0.036;0.138	T	0.26849	-1.0091	9	0.16896	T	0.51	.	9.5559	0.39339	0.0:0.3696:0.0:0.6304	.	3147;5235;5413;5233;2821	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	2821;5413;5235;3147;4909;3147;5233	ENSP00000244364:K2821N;ENSP00000359790:K5413N;ENSP00000359805:K5235N;ENSP00000400883:K3147N;ENSP00000393645:K4909N;ENSP00000359824:K3147N;ENSP00000354508:K5233N	ENSP00000244364:K2821N	K	-	3	2	DST	56525217	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.907000	0.28531	0.144000	0.18951	-0.290000	0.09829	AAA		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56417258	T	A	56417258	3	1	8	1	0	0	0	0	1	0	0	0	4783	1838	64	5	7224	5	DST	6	56417258	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	25178288	56417258	114697809	30	593											
SYNJ2	8871	mdanderson.org	37	chr6	158507981	158507981	+	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	tctctgtcggtccccaaccgGcctcggccacctcaaccccc	5	7	7	22	3	2	0	1	0	1	0	6	0	3	0	8	3	2	0	8	3	2	0	rs2296506	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr6:158507981G>A	ENST00000355585.4	+	23	3378	c.3303G>A	c.(3301-3303)cgG>cgA	p.R1101R	SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Silent_p.R186R|SYNJ2_ENST00000367121.3_Silent_p.R1101R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1101	Pro-rich.				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)		TCCCCAACCGGCCTCGGCCAC	0.652													G|||	2644	0.527955	0.5719	0.3386	5008	,	,		14003	0.5913		0.5099	False		,,,				2504	0.5562					.											0								G	,	2440,1966	615.6+/-392.6	668,1104,431	40	43	42		2592,3303	4.8	1	6	dbSNP_100	42	4371,4229	576.2+/-390.3	1097,2177,1026	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	1765,3281,1457	AA,AG,GG		49.1744,44.621,47.6319	,	864/1260,1101/1497	158507981	6811,6195	2203	4300	6503	SO:0001819	synonymous_variant	8871			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.3303G>A	6.37:g.158507981G>A			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1																																																																																				0.652	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			A	158507981	G	A	158507981	2	1	8	1	0	0	0	0	0	0	0	1	15450	1190	42	3		3	SYNJ2	6	158507981	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	102090723	158507981	12607086	31	594											
DOCK4	9732	broad.mit.edu;ucsc.edu	37	chr7	111368593	111368593	+	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	gctcggcacgggcaccggcaCtggcaccggcaggggggccg	5	2	19	15	5	0	0	0	0	0	0	1	0	0	0	3	8	0	6	3	8	0	0			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr7:111368593C>G	ENST00000437633.1	-	52	5894	c.5638G>C	c.(5638-5640)Gtg>Ctg	p.V1880L	DOCK4_ENST00000428084.1_Missense_Mutation_p.V1889L|DOCK4_ENST00000494651.2_Missense_Mutation_p.V763L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1880	Pro-rich.				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)				GGCACCGGCACTGGCACCGGC	0.647																																						.											0													34	42	39					7																	111368593		2073	4198	6271	SO:0001583	missense	9732				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.5638G>C	7.37:g.111368593C>G	ENSP00000404179:p.Val1880Leu		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.032|0.032	-1.328806|-1.328806	0.01298|0.01298	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.05513	.|4.16;3.43;4.16	4.59|4.59	1.55|1.55	0.23275|0.23275	.|.	.|0.478701	.|0.18768	.|U	.|0.131682	T|T	0.01523|0.01523	0.0049|0.0049	N|N	0.00538|0.00538	-1.39|-1.39	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0;0.0;0.0	T|T	0.47649|0.47649	-0.9101|-0.9101	5|10	.|0.10902	.|T	.|0.67	.|.	6.9688|6.9688	0.24637|0.24637	0.0:0.4797:0.4192:0.101|0.0:0.4797:0.4192:0.101	.|.	.|749;763;1925;1880;1851;193	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.|.;.;.;DOCK4_HUMAN;.;.	H|L	1302;1912|1868;1889;763;1880;1839	.|ENSP00000410746:V1889L;ENSP00000440944:V763L;ENSP00000404179:V1880L	.|ENSP00000345432:V1839L	Q|V	-|-	3|1	2|0	DOCK4|DOCK4	111155829|111155829	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.421000|0.421000	0.21280|0.21280	0.054000|0.054000	0.16065|0.16065	0.561000|0.561000	0.74099|0.74099	CAG|GTG		0.647	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		G	111368593	C	G	111368593	3	3	8	1	0	0	0	0	1	0	0	0	4689	565	20	5	266	5	DOCK4	7	111368593	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10		111368593	47770070	32	595											
BHLHE22	27319	mdanderson.org	37	chr8	65493429	65493429	+	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	agagcctgagcgcctccaccTccaagcgcttggaagcggct	8	6	12	15	3	0	2	0	1	0	1	2	3	2	3	5	2	4	2	5	2	2	1	rs7016250	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:65493429T>G	ENST00000321870.1	+	1	616	c.82T>G	c.(82-84)Tcc>Gcc	p.S28A	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	28			S -> A (in dbSNP:rs7016250).		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						CGCCTCCACCTCCAAGCGCTT	0.741													G|||	2648	0.528754	0.77	0.4452	5008	,	,		7262	0.5546		0.326	False		,,,				2504	0.4438				Colon(113;104 1586 2865 9855 18065)	.											0								G	ALA/SER	2630,1430		896,838,296	8	8	8		82	2.5	1	8	dbSNP_116	8	2053,6051		317,1419,2316	yes	missense	BHLHE22	NM_152414.4	99	1213,2257,2612	GG,GT,TT		25.3332,35.2217,38.4988	benign	28/382	65493429	4683,7481	2030	4052	6082	SO:0001583	missense	27319			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.82T>G	8.37:g.65493429T>G	ENSP00000318799:p.Ser28Ala			Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	1097	0.5022893772893773	369	0.75	153	0.42265193370165743	335	0.5856643356643356	240	0.316622691292876	t	0.020	-1.436684	0.01108	0.647783	0.253332	ENSG00000180828	ENST00000321870	D	0.94537	-3.45	3.39	2.5	0.30297	.	0.179067	0.36374	N	0.002635	T	0.00012	0.0000	N	0.04880	-0.145	0.49051	P	2.590000000000092E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	9	0.02654	T	1	-14.5881	7.3158	0.26499	0.0929:0.0:0.7396:0.1674	rs7016250	28	Q8NFJ8	BHE22_HUMAN	A	28	ENSP00000318799:S28A	ENSP00000318799:S28A	S	+	1	0	BHLHE22	65655983	1.000000	0.71417	0.993000	0.49108	0.580000	0.36256	3.146000	0.50631	0.272000	0.22027	-0.399000	0.06403	TCC		0.741	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		G	65493429	T	G	65493429	3	3	8	1	0	0	0	0	1	0	0	0	1421	1551	54	5	84	5	BHLHE22	8	65493429	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10		65493429	80870593	33	596											
CHMP4C	92421	broad.mit.edu	37	chr8	82644910	82644911	+	Frame_Shift_Ins	INS	-	-	G																															gggcggctcttctaagagccINSgagccgctcccagtccccag																										TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:82644910_82644911insG	ENST00000297265.4	+	1	242_243	c.49_50insG	c.(49-51)cgafs	p.R17fs		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	17	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|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)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TTCTAAGAGCCGAGCCGCTCCC	0.599																																						.											0																																										SO:0001589	frameshift_variant	92421			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.50dupG	8.37:g.82644911_82644911dupG	ENSP00000297265:p.Arg17fs		B2RBZ1	Frame_Shift_Ins	INS	ENST00000297265.4	37	CCDS6233.1																																																																																				0.599	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		G	82644911	-	G	82644910	7	5	8	1	0	1	1	0	0	0	0	0	3358	644	23	0	51	0	CHMP4C	8	82644910	Frame_Shift_Ins	INS	-	TCGA-KL-8330-01A-11D-2310-10	17151481	82644910	63719112	34	597											
CSMD3	114788	mdanderson.org	37	chr8	113237129	113237129	+	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	ttgttattttcatgaactgaAcatcctgtatactgtgtttt	9	20	6	6	0	1	2	1	2	0	0	2	2	2	2	1	0	3	3	1	0	5	8			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:113237129A>G	ENST00000297405.5	-	71	11239	c.10995T>C	c.(10993-10995)tgT>tgC	p.C3665C	CSMD3_ENST00000343508.3_Silent_p.C3625C|CSMD3_ENST00000455883.2_Silent_p.C3496C|CSMD3_ENST00000352409.3_Silent_p.C3595C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3665						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						CATGAACTGAACATCCTGTAT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												.											0													335	304	314					8																	113237129		2203	4300	6503	SO:0001819	synonymous_variant	114788			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.10995T>C	8.37:g.113237129A>G			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113237129	A	G	113237129	2	3	8	1	0	0	0	0	0	0	0	1	3946	41	2	2		2	CSMD3	8	113237129	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	30592219	113237129	33126893	35	598											
ZNF696	79943	mdanderson.org	37	chr8	144378277	144378277	+	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	tcggacgcggcaaagcaccgGagcatccactcgggggagaa	11	3	15	12	5	0	1	0	0	0	1	3	4	1	3	2	5	2	3	2	5	2	0	rs61729412	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:144378277G>C	ENST00000330143.3	+	3	841	c.432G>C	c.(430-432)cgG>cgC	p.R144R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAAAGCACCGGAGCATCCACT	0.716													G|||	111	0.0221645	0.0794	0.0072	5008	,	,		13683	0		0.001	False		,,,				2504	0					.											0								G		247,4149		8,231,1959	22	16	18		432	1.4	0.1	8	dbSNP_129	18	4,8586		0,4,4291	no	coding-synonymous	ZNF696	NM_030895.2		8,235,6250	CC,CG,GG		0.0466,5.6187,1.9329		144/375	144378277	251,12735	2198	4295	6493	SO:0001819	synonymous_variant	79943			AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.432G>C	8.37:g.144378277G>C			A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																				0.716	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		C	144378277	G	C	144378277	2	2	8	1	0	0	0	0	0	0	0	1	18096	1161	41	5		5	ZNF696	8	144378277	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	31141148	144378277	1985745	36	599											
NFKBIL2	4796	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr8	145661996	145661996	+	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	atggccctggccttctgccgCgtctccaggtccaggtccct	3	10	11	17	2	2	0	0	0	2	0	5	0	4	0	6	4	1	0	6	4	0	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr8:145661996C>T	ENST00000409379.3	-	16	1988	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	653					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCTTCTGCCGCGTCTCCAGGT	0.672																																						.											0													46	48	47					8																	145661996		2203	4300	6503	SO:0001819	synonymous_variant	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1959G>A	8.37:g.145661996C>T			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																				0.672	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		T	145661996	C	T	145661996	2	4	8	1	0	0	0	0	0	0	0	1	10382	755	27	1		1	NFKBIL2	8	145661996	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	1283719	145661996	702026	37	600											
ZCCHC6	79670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	88937294	88937294	+	Missense_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	taaaaacttgggtgttaatgGtggcagaggttctagctgga	11	12	14	4	0	1	1	0	0	1	1	1	2	1	2	0	5	2	4	0	5	5	5			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr9:88937294G>A	ENST00000375963.3	-	14	3146	c.2974C>T	c.(2974-2976)Cca>Tca	p.P992S	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P992S|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.P281S|ZCCHC6_ENST00000375957.1_5'Flank|ZCCHC6_ENST00000375960.2_Intron	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	992					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTGTTAATGGTGGCAGAGGT	0.373																																						.											0													121	122	121					9																	88937294		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2974C>T	9.37:g.88937294G>A	ENSP00000365130:p.Pro992Ser		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305275	0.60305	.	.	ENSG00000083223	ENST00000277141;ENST00000375961;ENST00000375963	T;T;T	0.58210	0.35;0.75;0.81	5.48	5.48	0.80851	.	0.109012	0.64402	D	0.000007	T	0.51958	0.1705	L	0.52126	1.63	0.52099	D	0.999946	P	0.45672	0.864	B	0.41332	0.354	T	0.53078	-0.8489	10	0.44086	T	0.13	-48.2633	19.5559	0.95347	0.0:0.0:1.0:0.0	.	992	Q5VYS8	TUT7_HUMAN	S	281;992;992	ENSP00000277141:P281S;ENSP00000365128:P992S;ENSP00000365130:P992S	ENSP00000277141:P281S	P	-	1	0	ZCCHC6	88127114	1.000000	0.71417	0.995000	0.50966	0.827000	0.46813	4.036000	0.57304	2.861000	0.98227	0.650000	0.86243	CCA		0.373	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		A	88937294	G	A	88937294	3	1	8	1	0	0	0	0	1	0	0	0	17589	1261	44	3	1569	3	ZCCHC6	9	88937294	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		88937294	52276137	38	601											
OR13C2	392376	mdanderson.org	37	chr9	107367674	107367674	+	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	gaagctcactagcgtggaggGaatagaggtggtggtgtagc	10	8	18	5	1	1	1	1	0	0	1	1	4	1	3	0	5	3	2	0	5	5	3	rs41312234	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr9:107367674G>A	ENST00000542196.1	-	1	277	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGCGTGGAGGGAATAGAGGTG	0.502																																						.											0													23	25	25					9																	107367674		2197	4290	6487	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.235C>T	9.37:g.107367674G>A	ENSP00000438815:p.Pro79Ser		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	8.276	0.814512	0.16607	.	.	ENSG00000257019	ENST00000542196	T	0.01854	4.6	3.39	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	U	0.002425	T	0.08088	0.0202	H	0.96365	3.81	0.26847	N	0.968253	B	0.33739	0.422	B	0.36134	0.218	T	0.05273	-1.0895	10	0.72032	D	0.01	.	8.5547	0.33474	0.1183:0.0:0.8817:0.0	rs41312234	79	Q8NGS9	O13C2_HUMAN	S	79	ENSP00000438815:P79S	ENSP00000438815:P79S	P	-	1	0	OR13C2	106407495	1.000000	0.71417	0.002000	0.10522	0.171000	0.22731	3.742000	0.55097	0.635000	0.30488	-0.369000	0.07265	CCC		0.502	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		A	107367674	G	A	107367674	3	1	8	1	0	0	0	0	1	0	0	0	10934	1174	41	3	724	3	OR13C2	9	107367674	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	18430380	107367674	33845757	39	602											
CDHR5	53841	broad.mit.edu	37	chr11	618824	618824	+	Frame_Shift_Del	DEL	A	A	-																															actggggggcatcggctgagAggttcctggctctggggtct																										TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:618824delA	ENST00000358353.3	-	14	2057	c.1735delT	c.(1735-1737)tctfs	p.S579fs	CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.S579fs|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	579	4 X 31 AA approximate tandem repeats.				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						ATCGGCTGAGAGGTTCCTGGC	0.667																																						.											0													110	116	114					11																	618824		2203	4300	6503	SO:0001589	frameshift_variant	53841			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.1735delT	11.37:g.618824delA	ENSP00000351118:p.Ser579fs		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																				0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		-	618824	A	-	618824	7	5	8	1	0	1	0	1	0	0	0	0	3122	304	11	0	814	0	CDHR5	11	618824	Frame_Shift_Del	DEL	A	TCGA-KL-8330-01A-11D-2310-10		618824	134387692	40	603	17	2									
CDHR5	53841	broad.mit.edu	37	chr11	618827	618827	+	Frame_Shift_Del	DEL	T	T	-																															ggggggcatcggctgagaggTtcctggctctggggtctgtg																										TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:618827delT	ENST00000358353.3	-	14	2054	c.1732delA	c.(1732-1734)accfs	p.T578fs	CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.T578fs|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	578	4 X 31 AA approximate tandem repeats.				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						GGCTGAGAGGTTCCTGGCTCT	0.667																																						.											0													110	117	115					11																	618827		2203	4300	6503	SO:0001589	frameshift_variant	53841			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.1732delA	11.37:g.618827delT	ENSP00000351118:p.Thr578fs		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																				0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		-	618827	T	-	618827	7	5	8	1	0	1	0	1	0	0	0	0	3122	1725	60	0	817	0	CDHR5	11	618827	Frame_Shift_Del	DEL	T	TCGA-KL-8330-01A-11D-2310-10	3	618827	134387689	41	604	17	2									
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-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	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																																						.											0													652	616	628					11																	1017280		2199	4282	6481	SO:0001583	missense	4588			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		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	8	1	0	0	0	0	1	0	0	0	9980	1174	41	5	1810	5	MUC6	11	1017280	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	398453	1017280	133989236	42	605											
MUC6	4588	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	1024889	1024889	+	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	tggctgttgatgacgctgcaCttgcgctcggcccaggagcg	5	9	15	12	4	0	2	0	2	0	0	1	3	0	3	1	3	3	5	1	3	0	2			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:1024889C>G	ENST00000421673.2	-	24	3230	c.3180G>C	c.(3178-3180)aaG>aaC	p.K1060N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1060	VWFD 3. {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)	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)		TGACGCTGCACTTGCGCTCGG	0.657																																						.											0													30	36	34					11																	1024889		2089	4220	6309	SO:0001583	missense	4588			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.3180G>C	11.37:g.1024889C>G	ENSP00000406861:p.Lys1060Asn		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617761	0.46736	.	.	ENSG00000184956	ENST00000421673	T	0.76578	-1.03	4.03	1.02	0.19986	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.920448	0.08636	U	0.916343	T	0.78773	0.4336	L	0.39397	1.21	0.29948	N	0.820519	D	0.57257	0.979	P	0.60236	0.871	T	0.68682	-0.5344	10	0.66056	D	0.02	.	5.5361	0.17011	0.0:0.5723:0.1467:0.281	.	1060	Q6W4X9	MUC6_HUMAN	N	1060	ENSP00000406861:K1060N	ENSP00000406861:K1060N	K	-	3	2	MUC6	1014889	0.931000	0.31567	0.991000	0.47740	0.966000	0.64601	0.648000	0.24828	0.112000	0.17975	0.561000	0.74099	AAG		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1024889	C	G	1024889	3	3	8	1	0	0	0	0	1	0	0	0	9980	564	20	5	4179	5	MUC6	11	1024889	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	7609	1024889	133981627	43	606											
MUC5B	727897	mdanderson.org	37	chr11	1270382	1270382	+	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	gaccaccccgggccacaccaCggccacctccaggaccacgg	9	1	10	21	3	0	0	0	0	0	0	1	2	1	1	9	4	0	0	9	4	0	0	rs199736618	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:1270382C>G	ENST00000529681.1	+	31	12330	c.12272C>G	c.(12271-12273)aCg>aGg	p.T4091R	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4094R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4091	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)		GGCCACACCACGGCCACCTCC	0.701																																						.											0													96	131	120					11																	1270382		2100	4206	6306	SO:0001583	missense	727897			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.12272C>G	11.37:g.1270382C>G	ENSP00000436812:p.Thr4091Arg		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	6.921	0.539550	0.13250	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22945	1.93;2.11	2.44	0.0226	0.14133	.	.	.	.	.	T	0.29061	0.0722	M	0.67953	2.075	0.19575	N	0.999965	P;P	0.47302	0.825;0.893	B;P	0.45681	0.257;0.49	T	0.18085	-1.0348	9	0.87932	D	0	.	6.5051	0.22190	0.0:0.6987:0.1834:0.118	.	4564;4094	A7Y9J9;E9PBJ0	.;.	R	4091;4094;4035;3941	ENSP00000436812:T4091R;ENSP00000415793:T4094R	ENSP00000343037:T4035R	T	+	2	0	MUC5B	1226958	0.000000	0.05858	0.001000	0.08648	0.141000	0.21300	-0.528000	0.06193	0.333000	0.23563	0.393000	0.25936	ACG		0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1270382	C	G	1270382	3	3	8	1	0	0	0	0	1	0	0	0	9979	536	19	5	12403	5	MUC5B	11	1270382	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	245493	1270382	133736134	44	607											
FUT4	2526	ucsc.edu;mdanderson.org	37	chr11	94278062	94278062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcccccgccctggggcAtccaggcgcacactgccgag	6	4	13	18	3	0	0	0	0	0	0	1	1	1	0	5	4	1	2	5	4	0	0	rs2230273	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:94278062A>G	ENST00000358752.2	+	1	1046	c.763A>G	c.(763-765)Atc>Gtc	p.I255V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	255			I -> V (in dbSNP:rs2230273).		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)				GCCCTGGGGCATCCAGGCGCA	0.726													G|||	517	0.103235	0.32	0.0317	5008	,	,		9733	0.0139		0.0139	False		,,,				2504	0.045					.											0								G	VAL/ILE	801,3091		86,629,1231	7	8	8		763	2	0	11	dbSNP_98	8	62,7852		1,60,3896	yes	missense	FUT4	NM_002033.3	29	87,689,5127	GG,GA,AA		0.7834,20.5807,7.3098	benign	255/531	94278062	863,10943	1946	3957	5903	SO:0001583	missense	2526				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.763A>G	11.37:g.94278062A>G	ENSP00000351602:p.Ile255Val		B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	CCDS8301.1	173	0.07921245421245421	148	0.3008130081300813	12	0.03314917127071823	5	0.008741258741258742	8	0.010554089709762533	g	0.006	-2.069712	0.00382	0.205807	0.007834	ENSG00000196371	ENST00000358752	T	0.30182	1.54	4.0	2.01	0.26516	.	.	.	.	.	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43475	-0.9389	8	0.02654	T	1	.	6.5473	0.22412	0.3539:0.0:0.6461:0.0	rs2230273;rs2230273	255	P22083	FUT4_HUMAN	V	255	ENSP00000351602:I255V	ENSP00000351602:I255V	I	+	1	0	FUT4	93917710	0.343000	0.24818	0.012000	0.15200	0.047000	0.14425	1.265000	0.33027	0.061000	0.16311	-0.374000	0.07098	ATC		0.726	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		G	94278062	A	G	94278062	3	3	8	1	0	0	0	0	1	0	0	0	6106	217	8	4	765	4	FUT4	11	94278062	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	93007680	94278062	40728454	45	608											
MMP3	4314	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr11	102709283	102709283	+	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	catttctcttgcatctcaccTccagtatttgtcctctacaa	8	16	3	14	0	3	0	1	0	3	0	7	0	5	0	3	0	2	2	3	0	3	5			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:102709283T>G	ENST00000299855.5	-	8	1484	c.1228A>C	c.(1228-1230)Aga>Cga	p.R410R	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	410					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)	GCATCTCACCTCCAGTATTTG	0.423																																						.											0													156	153	154					11																	102709283		2203	4299	6502	SO:0001630	splice_region_variant	4314			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.1229+1A>C	11.37:g.102709283T>G			B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	CCDS8323.1																																																																																				0.423	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	Silent	G	102709283	T	G	102709283	5	3	8	1	0	0	0	0	0	0	1	0	9666	1565	54	5	217	5	MMP3	11	102709283	Splice_Site	SNP	T	TCGA-KL-8330-01A-11D-2310-10	8431221	102709283	32297233	46	609											
GLB1L2	89944	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	134214285	134214285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatttctgttgcagctatGttccgtggaacctgcatgag	8	14	10	9	1	2	1	1	1	1	0	3	2	3	2	2	1	4	5	2	1	2	4			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr11:134214285G>T	ENST00000535456.2	+	3	477	c.289G>T	c.(289-291)Gtt>Ttt	p.V97F	GLB1L2_ENST00000339772.7_Missense_Mutation_p.V97F|GLB1L2_ENST00000389881.3_Missense_Mutation_p.V97F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	97					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)		TTGCAGCTATGTTCCGTGGAA	0.453																																						.											0													203	195	198					11																	134214285		2201	4297	6498	SO:0001583	missense	89944				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.289G>T	11.37:g.134214285G>T	ENSP00000444628:p.Val97Phe		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.585501|3.585501	0.66105|0.66105	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000525089|ENST00000339772;ENST00000535456;ENST00000389881	.|D;D;D	.|0.98996	.|-5.31;-5.31;-5.31	5.05|5.05	1.97|1.97	0.26223|0.26223	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.138414	.|0.48286	.|D	.|0.000194	D|D	0.99111|0.99111	0.9694|0.9694	M|M	0.85630|0.85630	2.765|2.765	0.50171|0.50171	D|D	0.999851|0.999851	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	D|D	0.99486|0.99486	1.0949|1.0949	5|10	.|0.87932	.|D	.|0	-11.9247|-11.9247	10.8771|10.8771	0.46917|0.46917	0.2379:0.0:0.7621:0.0|0.2379:0.0:0.7621:0.0	.|.	.|97	.|Q8IW92	.|GLBL2_HUMAN	F|F	35|97	.|ENSP00000344659:V97F;ENSP00000444628:V97F;ENSP00000374531:V97F	.|ENSP00000344659:V97F	C|V	+|+	2|1	0|0	GLB1L2|GLB1L2	133719495|133719495	1.000000|1.000000	0.71417|0.71417	0.878000|0.878000	0.34440|0.34440	0.879000|0.879000	0.50718|0.50718	5.692000|5.692000	0.68256|0.68256	0.716000|0.716000	0.32124|0.32124	0.563000|0.563000	0.77884|0.77884	TGT|GTT		0.453	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		T	134214285	G	T	134214285	3	4	8	1	0	0	0	0	1	0	0	0	6429	1377	48	5	299	5	GLB1L2	11	134214285	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	31505002	134214285	792231	47	610											
CD163	9332	mdanderson.org;bcgsc.ca	37	chr12	7649507	7649507	+	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	caggttcatgtccctggcaaGaaacgctgtcaagccagatg	11	8	11	11	1	2	2	2	0	0	2	3	2	3	2	2	2	2	3	2	2	3	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr12:7649507G>T	ENST00000359156.4	-	5	1203	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	CD163_ENST00000432237.2_Missense_Mutation_p.S334Y|CD163_ENST00000541972.1_Missense_Mutation_p.S322Y|CD163_ENST00000396620.3_Missense_Mutation_p.S334Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	334	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.	Cleavage; in calcium-free condition.			acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCCCTGGCAAGAAACGCTGTC	0.493																																						.											0													145	100	115					12																	7649507		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1001C>A	12.37:g.7649507G>T	ENSP00000352071:p.Ser334Tyr		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583528	0.13749	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.03	3.05	0.35203	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.810546	0.11502	N	0.557572	T	0.51261	0.1664	L	0.56124	1.755	0.09310	N	0.99999	D;P;D	0.71674	0.998;0.919;0.998	D;B;D	0.71184	0.972;0.42;0.972	T	0.28299	-1.0048	10	0.66056	D	0.02	.	8.374	0.32432	0.0:0.1458:0.5555:0.2987	.	334;334;334	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	334;322;334;334	ENSP00000352071:S334Y;ENSP00000444071:S322Y;ENSP00000379863:S334Y;ENSP00000403885:S334Y	ENSP00000352071:S334Y	S	-	2	0	CD163	7540774	0.000000	0.05858	0.454000	0.27019	0.714000	0.41099	-0.478000	0.06575	1.229000	0.43630	0.561000	0.74099	TCT		0.493	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		T	7649507	G	T	7649507	3	4	8	1	0	0	0	0	1	0	0	0	2967	942	33	5	2517	5	CD163	12	7649507	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		7649507	126202388	48	611											
KCNJ8	3764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	21918737	21918737	+	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	gagggaagaattgttccttcGgatagaattgttcctcctca	10	13	10	8	1	1	2	1	0	0	2	5	5	4	4	3	2	0	2	3	2	4	6			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr12:21918737G>T	ENST00000240662.2	-	3	1540	c.1195C>A	c.(1195-1197)Cga>Aga	p.R399R	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	399					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.R399*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TTGTTCCTTCGGATAGAATTG	0.418																																						.											1	Substitution - Nonsense(1)	large_intestine(1)											144	139	140					12																	21918737		2203	4300	6503	SO:0001819	synonymous_variant	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1195C>A	12.37:g.21918737G>T			O00657	Silent	SNP	ENST00000240662.2	37	CCDS8692.1																																																																																				0.418	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		T	21918737	G	T	21918737	2	4	8	1	0	0	0	0	0	0	0	1	8056	1124	39	5		5	KCNJ8	12	21918737	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	14269230	21918737	111933158	49	612											
KRT85	3891	mdanderson.org	37	chr12	52760938	52760938	+	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	ctgggtccgcacacgcccccGgagcggtagccgaagctgcg	6	4	15	16	6	0	0	0	0	0	0	1	2	1	1	4	3	4	3	4	3	2	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr12:52760938G>A	ENST00000257901.3	-	1	327	c.252C>T	c.(250-252)tcC>tcT	p.S84S	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	84	Head.				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)		ACACGCCCCCGGAGCGGTAGC	0.687																																						.											0													39	48	45					12																	52760938		2203	4300	6503	SO:0001819	synonymous_variant	3891			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.252C>T	12.37:g.52760938G>A			Q9NSB1	Silent	SNP	ENST00000257901.3	37	CCDS8824.1																																																																																				0.687	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		A	52760938	G	A	52760938	2	1	8	1	0	0	0	0	0	0	0	1	8499	1103	39	1		1	KRT85	12	52760938	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	30842201	52760938	81090957	50	613											
RPH3A	22895	hgsc.bcm.edu;mdanderson.org	37	chr12	113303275	113303275	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtggctggagatggggtgaAccgctgcatactgtgtggag	7	9	18	7	2	0	2	0	1	0	1	0	4	0	3	1	5	3	3	1	5	2	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr12:113303275A>G	ENST00000389385.4	+	6	784	c.287A>G	c.(286-288)aAc>aGc	p.N96S	RPH3A_ENST00000551052.1_Missense_Mutation_p.N92S|RPH3A_ENST00000447659.2_Missense_Mutation_p.N47S|RPH3A_ENST00000543106.2_Missense_Mutation_p.N96S|RPH3A_ENST00000415485.3_Missense_Mutation_p.N96S|RPH3A_ENST00000548866.1_Missense_Mutation_p.N47S|RPH3A_ENST00000420983.2_Missense_Mutation_p.N96S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	96	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)		GATGGGGTGAACCGCTGCATA	0.527																																						.											0													204	178	187					12																	113303275		2203	4300	6503	SO:0001583	missense	22895			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.287A>G	12.37:g.113303275A>G	ENSP00000374036:p.Asn96Ser		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	A	5.941	0.357590	0.11239	.	.	ENSG00000089169	ENST00000548197;ENST00000543106;ENST00000551593;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.61	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.080012	0.50627	D	0.000101	T	0.59321	0.2185	N	0.25332	0.735	0.41201	D	0.986372	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.51403	-0.8710	10	0.21540	T	0.41	.	10.5859	0.45282	0.9234:0.0:0.0766:0.0	.	47;96;96;92	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	S	96;96;96;96;96;96;96;96;47;29;96;92;96;96;47;96	ENSP00000446570:N96S;ENSP00000440384:N96S;ENSP00000446780:N96S;ENSP00000450382:N96S;ENSP00000449613:N96S;ENSP00000447505:N96S;ENSP00000449650:N96S;ENSP00000374036:N96S;ENSP00000413254:N47S;ENSP00000448100:N29S;ENSP00000447083:N96S;ENSP00000448297:N92S;ENSP00000405357:N96S;ENSP00000450216:N96S;ENSP00000450347:N47S;ENSP00000408889:N96S	ENSP00000374036:N96S	N	+	2	0	RPH3A	111787658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.592000	0.46171	0.958000	0.37956	0.533000	0.62120	AAC		0.527	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		G	113303275	A	G	113303275	3	3	8	1	0	0	0	0	1	0	0	0	13551	43	2	2	301	2	RPH3A	12	113303275	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	60542337	113303275	20548620	51	614											
KIAA1704	55425	broad.mit.edu;bcgsc.ca	37	chr13	45582989	45582989	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctacacagaaaagtgacaAgggcagagatgatccaggac	17	5	11	8	0	1	4	0	2	1	2	2	6	2	5	1	2	1	1	1	2	4	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr13:45582989A>G	ENST00000379151.4	+	4	486	c.383A>G	c.(382-384)aAg>aGg	p.K128R	GPALPP1_ENST00000361121.2_Missense_Mutation_p.K128R|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_5'UTR	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	128																	AAAAGTGACAAGGGCAGAGAT	0.368																																						.											0													84	75	78					13																	45582989		2203	4300	6503	SO:0001583	missense	55425			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.383A>G	13.37:g.45582989A>G	ENSP00000368447:p.Lys128Arg		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836425	0.32421	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	T;T	0.55234	0.53;0.53	5.31	1.59	0.23543	.	0.778085	0.12671	N	0.448776	T	0.32912	0.0845	N	0.22421	0.69	0.23043	N	0.99838	B	0.02656	0.0	B	0.04013	0.001	T	0.21552	-1.0242	10	0.16896	T	0.51	-13.9596	7.2745	0.26275	0.6279:0.0:0.3721:0.0	.	128	Q8IXQ4	K1704_HUMAN	R	128	ENSP00000368447:K128R;ENSP00000355211:K128R	ENSP00000355211:K128R	K	+	2	0	KIAA1704	44480989	0.234000	0.23783	0.997000	0.53966	0.938000	0.57974	-0.169000	0.09911	0.133000	0.18654	0.528000	0.53228	AAG		0.368	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		G	45582989	A	G	45582989	3	3	8	1	0	0	0	0	1	0	0	0	8252	72	3	2	397	2	KIAA1704	13	45582989	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10		45582989	69586889	52	615											
LTB4R2	56413	mdanderson.org	37	chr14	24780364	24780364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgccacctgtggagggAccgcgtatgccagctgtgcc	6	7	13	15	3	0	0	0	0	0	0	0	2	0	2	6	2	4	2	6	2	2	2	rs1950504	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:24780364A>G	ENST00000528054.1	+	1	2204	c.587A>G	c.(586-588)gAc>gGc	p.D196G	LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.D165G|CIDEB_ENST00000258807.5_5'UTR|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000555817.1_Intron|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.D165G|CIDEB_ENST00000336557.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	196					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)		CTGTGGAGGGACCGCGTATGC	0.731													a|||	190	0.0379393	0.1399	0.0072	5008	,	,		13130	0		0	False		,,,				2504	0					.											0								G	GLY/ASP,,GLY/ASP	450,3898		24,402,1748	17	16	16		494,,494	-1.7	0	14	dbSNP_92	16	2,8500		0,2,4249	no	missense,utr-5,missense	CIDEB,LTB4R2	NM_001164692.2,NM_014430.2,NM_019839.4	94,,94	24,404,5997	GG,GA,AA		0.0235,10.3496,3.5175	benign,,benign	165/359,,165/359	24780364	452,12398	2174	4251	6425	SO:0001583	missense	56413			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.587A>G	14.37:g.24780364A>G	ENSP00000432146:p.Asp196Gly		Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37		85	0.03891941391941392	80	0.16260162601626016	5	0.013812154696132596	0	0.0	0	0.0	A	8.771	0.925972	0.18056	0.103496	2.35E-4	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	4.88	-1.74	0.08056	GPCR, rhodopsin-like superfamily (1);	1.111770	0.06947	N	0.813820	T	0.00210	0.0006	N	0.05574	-0.02	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.02539	-1.1144	9	0.21014	T	0.42	.	6.262	0.20905	0.4321:0.1466:0.4212:0.0	rs1950504	196	Q9NPC1	LT4R2_HUMAN	G	196;165;165;165	ENSP00000432146:D196G;ENSP00000433290:D165G;ENSP00000445772:D165G;ENSP00000434760:D165G	ENSP00000337731:D196G	D	+	2	0	LTB4R2	23850204	0.000000	0.05858	0.014000	0.15608	0.878000	0.50629	-0.091000	0.11146	-0.069000	0.12931	-0.441000	0.05720	GAC		0.731	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			G	24780364	A	G	24780364	3	3	8	1	0	0	0	0	1	0	0	0	9072	275	10	2	496	2	LTB4R2	14	24780364	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10		24780364	82569176	53	616											
AHNAK2	113146	mdanderson.org	37	chr14	105413649	105413649	+	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	tggccctctgggagtttcacAtccacctggccagcctggac	6	9	11	15	0	2	0	1	0	1	0	3	2	3	2	5	4	1	1	5	4	0	1	rs201545349	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:105413649A>G	ENST00000333244.5	-	7	8258	c.8139T>C	c.(8137-8139)gaT>gaC	p.D2713D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2713						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)			GGAGTTTCACATCCACCTGGC	0.612													.|||	29	0.00579073	0.0174	0	5008	,	,		17337	0		0	False		,,,				2504	0.0061					.											0													130	144	139					14																	105413649		1936	4121	6057	SO:0001819	synonymous_variant	113146			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.8139T>C	14.37:g.105413649A>G			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105413649	A	G	105413649	2	3	8	1	0	0	0	0	0	0	0	1	415	214	8	4		4	AHNAK2	14	105413649	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	80633285	105413649	1935891	54	617			1	6		4	4	2013	N	T_C_A	1.920509e-08
AHNAK2	113146	mdanderson.org	37	chr14	105413682	105413682	+	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	gcctggacctccagttgggcAgaggggggctgaatgctgat	7	8	17	9	0	0	3	0	2	0	1	1	4	1	4	3	5	1	4	3	5	1	1	rs200358766	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:105413682A>G	ENST00000333244.5	-	7	8225	c.8106T>C	c.(8104-8106)tcT>tcC	p.S2702S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2702						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)			CCAGTTGGGCAGAGGGGGGCT	0.617																																						.											0													140	156	151					14																	105413682		1966	4150	6116	SO:0001819	synonymous_variant	113146			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.8106T>C	14.37:g.105413682A>G			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105413682	A	G	105413682	2	3	8	1	0	0	0	0	0	0	0	1	415	175	7	2		2	AHNAK2	14	105413682	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	33	105413682	1935858	55	618			1	6		4	4	2013	N	T_C_A	1.920509e-08
AHNAK2	113146	mdanderson.org	37	chr14	105413702	105413702	+	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	agaggggggctgaatgctgaTgtcagtggtcttaaggtccc	8	10	16	7	0	2	3	1	2	1	1	3	3	3	3	1	5	1	2	1	5	2	1	rs373727930	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:105413702T>G	ENST00000333244.5	-	7	8205	c.8086A>C	c.(8086-8088)Atc>Ctc	p.I2696L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2696						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)			TGAATGCTGATGTCAGTGGTC	0.622													.|||	5	0.000998403	0.0038	0	5008	,	,		18132	0		0	False		,,,				2504	0					.											0								G	LEU/ILE	6,4002		0,6,1998	155	169	164		8086	-6.6	0	14		164	0,8354		0,0,4177	no	missense	AHNAK2	NM_138420.2	5	0,6,6175	GG,GT,TT		0.0,0.1497,0.0485	benign	2696/5796	105413702	6,12356	2004	4177	6181	SO:0001583	missense	113146			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.8086A>C	14.37:g.105413702T>G	ENSP00000353114:p.Ile2696Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	1.766	-0.485464	0.04352	0.001497	0.0	ENSG00000185567	ENST00000333244	T	0.01215	5.16	3.28	-6.57	0.01842	.	.	.	.	.	T	0.00356	0.0011	N	0.00278	-1.715	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48422	-0.9037	9	0.27082	T	0.32	.	4.7288	0.12954	0.0859:0.4868:0.2062:0.2212	.	2696	Q8IVF2	AHNK2_HUMAN	L	2696	ENSP00000353114:I2696L	ENSP00000353114:I2696L	I	-	1	0	AHNAK2	104484747	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.340000	0.00506	-5.115000	0.00021	-4.489000	0.00005	ATC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105413702	T	G	105413702	3	3	8	1	0	0	0	0	1	0	0	0	415	1464	51	5	9305	5	AHNAK2	14	105413702	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	20	105413702	1935838	56	619			1	6		4	4	2013	N	T_C_A	1.920509e-08
AHNAK2	113146	mdanderson.org	37	chr14	105415661	105415661	+	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	agtctggaccttcaggtcggCagaagggggctgaatgctga	9	8	16	8	1	2	3	1	2	1	1	3	4	2	4	1	5	1	3	1	5	2	1	rs200010377	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr14:105415661C>T	ENST00000333244.5	-	7	6246	c.6127G>A	c.(6127-6129)Gcc>Acc	p.A2043T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2043						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)			TTCAGGTCGGCAGAAGGGGGC	0.647													.|||	82	0.0163738	0.0129	0.0086	5008	,	,		12118	0.0079		0.008	False		,,,				2504	0.044					.											0													100	60	73					14																	105415661		1902	3958	5860	SO:0001583	missense	113146			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.6127G>A	14.37:g.105415661C>T	ENSP00000353114:p.Ala2043Thr		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	14.22	2.469010	0.43839	.	.	ENSG00000185567	ENST00000333244	T	0.00912	5.55	3.87	0.935	0.19483	.	.	.	.	.	T	0.02571	0.0078	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.44757	-0.9307	9	0.14252	T	0.57	.	5.0829	0.14666	0.1662:0.6467:0.0:0.1871	.	2043	Q8IVF2	AHNK2_HUMAN	T	2043	ENSP00000353114:A2043T	ENSP00000353114:A2043T	A	-	1	0	AHNAK2	104486706	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.432000	0.21461	0.149000	0.19098	0.485000	0.47835	GCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105415661	C	T	105415661	3	4	8	1	0	0	0	0	1	0	0	0	415	710	25	4	11264	4	AHNAK2	14	105415661	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	1959	105415661	1933879	57	620			1	6		4	4	2013	N	T_C_A	1.920509e-08
PPIP5K1	9677	broad.mit.edu	37	chr15	43827440	43827440	+	Frame_Shift_Del	DEL	A	A	-																															cgtatggctggctggtttccAtaggtggcacctgtggggac																										TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr15:43827440delA	ENST00000396923.3	-	30	3855	c.3734delT	c.(3733-3735)atgfs	p.M1245fs	PPIP5K1_ENST00000360301.4_Frame_Shift_Del_p.M1220fs|PPIP5K1_ENST00000348806.6_Frame_Shift_Del_p.M1218fs|PPIP5K1_ENST00000381879.4_Frame_Shift_Del_p.M1221fs|PPIP5K1_ENST00000360135.4_Frame_Shift_Del_p.M1218fs|PPIP5K1_ENST00000420765.1_Frame_Shift_Del_p.M1245fs|PPIP5K1_ENST00000381885.1_Frame_Shift_Del_p.M1241fs|PPIP5K1_ENST00000334933.4_Frame_Shift_Del_p.M1220fs			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1245					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						GCTGGTTTCCATAGGTGGCAC	0.587																																						.											0													86	87	87					15																	43827440		2201	4298	6499	SO:0001589	frameshift_variant	9677			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3734delT	15.37:g.43827440delA	ENSP00000380129:p.Met1245fs		O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Frame_Shift_Del	DEL	ENST00000396923.3	37	CCDS45252.1																																																																																				0.587	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		-	43827440	A	-	43827440	7	5	8	1	0	1	0	1	0	0	0	0	12332	217	8	0	571	0	PPIP5K1	15	43827440	Frame_Shift_Del	DEL	A	TCGA-KL-8330-01A-11D-2310-10		43827440	58703952	58	621											
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	52562050	52562050	+	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	cttgtataattaaattcttcGgcactccctgaaatcaaaaa	15	13	4	9	1	2	1	1	1	1	0	4	1	3	1	1	1	0	2	1	1	7	6			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr15:52562050G>A	ENST00000261839.7	-	8	1001	c.840C>T	c.(838-840)gcC>gcT	p.A280A	MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_Silent_p.A223A	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	280	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TAAATTCTTCGGCACTCCCTG	0.378																																						.											0													167	151	156					15																	52562050		1859	4100	5959	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.840C>T	15.37:g.52562050G>A			Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.378	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		A	52562050	G	A	52562050	2	1	8	1	0	0	0	0	0	0	0	1	10080	1103	39	1		1	MYO5C	15	52562050	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10	8734610	52562050	49969342	59	622											
WHAMM	123720	mdanderson.org	37	chr15	83478545	83478545	+	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	gggagggcctcttcgccgagCccgagaggcaccggctgcgc	5	4	17	15	5	1	1	0	0	1	1	2	4	1	2	4	4	2	2	4	4	0	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr15:83478545C>G	ENST00000286760.4	+	1	166	c.67C>G	c.(67-69)Ccc>Gcc	p.P23A		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	23	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						CTTCGCCGAGCCCGAGAGGCA	0.726																																						.											0													10	11	11					15																	83478545		1590	3625	5215	SO:0001583	missense	123720			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.67C>G	15.37:g.83478545C>G	ENSP00000286760:p.Pro23Ala		Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760084	0.49468	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.07021	3.23	5.44	3.56	0.40772	.	0.583381	0.18376	N	0.143118	T	0.10637	0.0260	M	0.66939	2.045	0.37618	D	0.921205	B	0.32753	0.383	B	0.28849	0.095	T	0.06881	-1.0802	10	0.44086	T	0.13	.	10.6106	0.45419	0.0:0.8451:0.0:0.1549	.	23	Q8TF30	WHAMM_HUMAN	A	23	ENSP00000286760:P23A	ENSP00000234505:P23A	P	+	1	0	WHAMM	81275599	0.925000	0.31364	0.628000	0.29241	0.970000	0.65996	0.721000	0.25911	0.671000	0.31185	0.585000	0.79938	CCC		0.726	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			G	83478545	C	G	83478545	3	3	8	1	0	0	0	0	1	0	0	0	17358	739	26	5	69	5	WHAMM	15	83478545	Missense_Mutation	SNP	C	TCGA-KL-8330-01A-11D-2310-10	30916495	83478545	19052847	60	623											
SULT1A1	6817	mdanderson.org	37	chr16	28620121	28620121	+	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	ctgcaaagtacttgatgagcGggacccccttcacgtactcc	9	9	9	14	2	1	2	1	2	0	0	2	3	2	3	3	1	4	3	3	1	3	4	rs200542791	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr16:28620121G>A	ENST00000395607.1	-	2	329	c.56C>T	c.(55-57)cCg>cTg	p.P19L	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.P19L|SULT1A1_ENST00000314752.7_Missense_Mutation_p.P19L|SULT1A1_ENST00000395609.1_Missense_Mutation_p.P19L	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	19					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.P19L(2)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	CTTGATGAGCGGGACCCCCTT	0.632																																						.											2	Substitution - Missense(2)	kidney(2)											36	36	36					16																	28620121		2197	4293	6490	SO:0001583	missense	6817			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.56C>T	16.37:g.28620121G>A	ENSP00000378971:p.Pro19Leu		Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.461115	0.26248	.	.	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	T;T;T	0.01560	4.77;4.77;4.77	2.5	1.49	0.22878	.	0.000000	0.64402	D	0.000001	T	0.02807	0.0084	N	0.24115	0.695	0.47037	D	0.999295	D	0.89917	1.0	D	0.76071	0.987	T	0.57225	-0.7848	10	0.06625	T	0.88	.	7.8438	0.29414	0.1395:0.0:0.8605:0.0	.	19	P50225	ST1A1_HUMAN	L	19	ENSP00000321988:P19L;ENSP00000378972:P19L;ENSP00000378971:P19L	ENSP00000321988:P19L	P	-	2	0	SULT1A1	28527622	0.990000	0.36364	0.082000	0.20525	0.073000	0.16967	2.174000	0.42482	0.605000	0.29947	0.306000	0.20318	CCG		0.632	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		A	28620121	G	A	28620121	3	1	8	1	0	0	0	0	1	0	0	0	15371	1116	39	1	859	1	SULT1A1	16	28620121	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		28620121	61734632	61	624											
NECAB2	54550	broad.mit.edu;mdanderson.org	37	chr16	84024120	84024120	+	Missense_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	tatatgagggtgggagcaacGtggaccagtttgtgacccgc	9	9	15	8	2	0	2	0	2	0	0	0	4	0	4	2	3	2	2	2	3	3	3	rs531002237		TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr16:84024120G>A	ENST00000305202.4	+	6	498	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	NECAB2_ENST00000565691.1_Missense_Mutation_p.V78M	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	161						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TGGGAGCAACGTGGACCAGTT	0.582																																						.											0													88	80	83					16																	84024120		2200	4300	6500	SO:0001583	missense	54550			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.481G>A	16.37:g.84024120G>A	ENSP00000307449:p.Val161Met		A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690055	0.29962	.	.	ENSG00000103154	ENST00000305202	T	0.21191	2.02	5.14	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	M	0.70842	2.15	0.49687	D	0.999815	D	0.57257	0.979	P	0.44518	0.452	T	0.07139	-1.0788	10	0.41790	T	0.15	-13.0244	13.1299	0.59375	0.0796:0.0:0.9204:0.0	.	161	Q7Z6G3	NECA2_HUMAN	M	161	ENSP00000307449:V161M	ENSP00000307449:V161M	V	+	1	0	NECAB2	82581621	1.000000	0.71417	0.989000	0.46669	0.271000	0.26615	3.193000	0.50997	2.388000	0.81334	0.549000	0.68633	GTG		0.582	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		A	84024120	G	A	84024120	3	1	8	1	0	0	0	0	1	0	0	0	10305	1145	40	1	503	1	NECAB2	16	84024120	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	55403999	84024120	6330633	62	625											
CACNB1	782	ucsc.edu	37	chr17	37331681	37331681	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggggtcagtctccatgTccacacatgagtctcccagc	8	9	10	14	0	3	2	1	2	2	0	6	2	4	2	3	2	1	0	3	2	0	0			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr17:37331681T>C	ENST00000394303.3	-	14	1769	c.1562A>G	c.(1561-1563)gAc>gGc	p.D521G	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	521					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTCTCCATGTCCACACATGA	0.657											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)	.											0													97	109	105					17																	37331681		1956	4143	6099	SO:0001583	missense	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1562A>G	17.37:g.37331681T>C	ENSP00000377840:p.Asp521Gly	869	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538855	0.85917	.	.	ENSG00000067191	ENST00000539338;ENST00000394303	T	0.79554	-1.28	5.67	4.6	0.57074	.	0.053621	0.64402	D	0.000001	T	0.74496	0.3724	L	0.51422	1.61	0.80722	D	1	B	0.15141	0.012	B	0.10450	0.005	T	0.73310	-0.4023	10	0.66056	D	0.02	-27.8644	10.2001	0.43077	0.0:0.0791:0.0:0.9209	.	521	Q02641	CACB1_HUMAN	G	471;521	ENSP00000377840:D521G	ENSP00000377840:D521G	D	-	2	0	CACNB1	34585207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.651000	0.61447	2.169000	0.68431	0.459000	0.35465	GAC		0.657	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			C	37331681	T	C	37331681	3	2	8	1	0	0	0	0	1	0	0	0	2552	1667	58	2	238	2	CACNB1	17	37331681	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10		37331681	43863529	63	626											
RNF213	57674	ucsc.edu	37	chr17	78326830	78326830	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatgtcaccatcagccAgctgttcgcgcccggagact	8	7	11	15	3	2	1	2	0	0	1	3	2	2	1	3	1	3	4	3	1	0	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr17:78326830A>G	ENST00000582970.1	+	33	10537	c.10394A>G	c.(10393-10395)cAg>cGg	p.Q3465R	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.Q1538R|RNF213_ENST00000508628.2_Missense_Mutation_p.Q3514R|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3465					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)			ACCATCAGCCAGCTGTTCGCG	0.627																																						.											0													74	68	70					17																	78326830		2203	4300	6503	SO:0001583	missense	57674			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.10394A>G	17.37:g.78326830A>G	ENSP00000464087:p.Gln3465Arg		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	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898988	0.52227	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24151	1.87	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.81239	2.535	0.38732	D	0.953683	D	0.71674	0.998	D	0.63283	0.913	T	0.60969	-0.7157	10	0.87932	D	0	.	14.5041	0.67741	1.0:0.0:0.0:0.0	.	1538	Q63HN8	RN213_HUMAN	R	3465;3514;1538	ENSP00000338218:Q1538R	ENSP00000338218:Q1538R	Q	+	2	0	RNF213	75941425	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	8.238000	0.89809	2.157000	0.67596	0.533000	0.62120	CAG		0.627	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78326830	A	G	78326830	3	3	8	1	0	0	0	0	1	0	0	0	13477	188	7	2	10839	2	RNF213	17	78326830	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	40995149	78326830	2868380	64	627											
MIB1	57534	broad.mit.edu	37	chr18	19379923	19379923	+	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	gtggaagatttgcttaaaagAccagatgtggatgtgagcat	13	11	13	4	0	0	4	0	1	0	3	0	6	0	6	1	2	2	2	1	2	3	2			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr18:19379923A>G	ENST00000261537.6	+	9	1623	c.1359A>G	c.(1357-1359)agA>agG	p.R453R	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	453					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTTAAAAGACCAGATGTGG	0.333																																						.											0													93	93	93					18																	19379923		2203	4300	6503	SO:0001819	synonymous_variant	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1359A>G	18.37:g.19379923A>G			B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	CCDS11871.1																																																																																				0.333	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		G	19379923	A	G	19379923	2	3	8	1	0	0	0	0	0	0	0	1	9566	272	10	2		2	MIB1	18	19379923	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10		19379923	58697325	65	628											
ABCA7	10347	ucsc.edu	37	chr19	1047002	1047002	+	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	cccttcctgctcagcgccgcActgctggttctggtgctcaa	4	11	10	16	2	3	0	2	0	1	0	4	0	4	0	3	2	4	5	3	2	1	2	rs3752234	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:1047002A>G	ENST00000263094.6	+	14	2055	c.1824A>G	c.(1822-1824)gcA>gcG	p.A608A	ABCA7_ENST00000435683.2_Silent_p.A470A|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Silent_p.A608A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	608					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)		TCAGCGCCGCACTGCTGGTTC	0.726													G|||	2899	0.578874	0.4637	0.7104	5008	,	,		13766	0.75		0.5199	False		,,,				2504	0.5256					.											0										2219,2141		606,1007,567	14	13	13		1824	-2.7	0.3	19	dbSNP_107	13	4663,3873		1348,1967,953	no	coding-synonymous	ABCA7	NM_019112.3		1954,2974,1520	GG,GA,AA		45.3725,49.1055,46.6346		608/2147	1047002	6882,6014	2180	4268	6448	SO:0001819	synonymous_variant	10347			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.1824A>G	19.37:g.1047002A>G			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																				0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		G	1047002	A	G	1047002	2	3	8	1	0	0	0	0	0	0	0	1	37	146	6	2		2	ABCA7	19	1047002	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10		1047002	58081981	66	629											
MUC16	94025	mdanderson.org	37	chr19	9054242	9054242	+	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	aagttaaacctacctttaggActggcaggcgaagtggatgt	12	10	12	7	1	0	0	0	0	0	0	0	3	0	2	2	4	2	2	2	4	6	4			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:9054242A>G	ENST00000397910.4	-	4	31583	c.31380T>C	c.(31378-31380)agT>agC	p.S10460S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10462	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						TACCTTTAGGACTGGCAGGCG	0.443																																						.											0													135	147	143					19																	9054242		1950	4152	6102	SO:0001819	synonymous_variant	94025			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.31380T>C	19.37:g.9054242A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9054242	A	G	9054242	2	3	8	1	0	0	0	0	0	0	0	1	9973	272	10	2		2	MUC16	19	9054242	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	8007240	9054242	50074741	67	630											
PSG2	5670	mdanderson.org	37	chr19	43585274	43585274	+	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	cctttgtaccagatgtagccAgtaagattctggggcaaatt	11	12	10	8	0	1	2	0	0	1	2	1	2	1	2	3	2	2	4	3	2	4	6			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:43585274A>G	ENST00000406487.1	-	2	287	c.189T>C	c.(187-189)acT>acC	p.T63T	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	63	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGATGTAGCCAGTAAGATTCT	0.453																																						.											0													112	115	114					19																	43585274		2203	4296	6499	SO:0001819	synonymous_variant	5670				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.189T>C	19.37:g.43585274A>G			Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	CCDS12616.1																																																																																				0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		G	43585274	A	G	43585274	2	3	8	1	0	0	0	0	0	0	0	1	12655	175	7	2		2	PSG2	19	43585274	Silent	SNP	A	TCGA-KL-8330-01A-11D-2310-10	34531032	43585274	15543709	68	631											
ELSPBP1	64100	mdanderson.org;bcgsc.ca	37	chr19	48525507	48525507	+	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	attattttaactgcactaacGaaggatcaaaggagaacctt	16	11	7	7	1	1	1	1	0	0	1	1	4	1	2	1	2	4	1	1	2	6	5	rs2303690	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:48525507G>A	ENST00000339841.2	+	6	773	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.E51K	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	199	Fibronectin type-II 4. {ECO:0000255|PROSITE-ProRule:PRU00479}.		E -> K (in dbSNP:rs2303690). {ECO:0000269|PubMed:11144225, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		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)		CTGCACTAACGAAGGATCAAA	0.458													a|||	3432	0.685304	0.6672	0.719	5008	,	,		21670	0.8671		0.5696	False		,,,				2504	0.6176					.											0								A	LYS/GLU	2699,1707	514.5+/-368.7	854,991,358	172	160	164		595	1.5	0	19	dbSNP_100	164	4879,3721	530.3+/-381.8	1393,2093,814	yes	missense	ELSPBP1	NM_022142.4	56	2247,3084,1172	AA,AG,GG		43.2674,38.7426,41.7346	benign	199/224	48525507	7578,5428	2203	4300	6503	SO:0001583	missense	64100			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.595G>A	19.37:g.48525507G>A	ENSP00000340660:p.Glu199Lys		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	CCDS12708.1	1512	0.6923076923076923	325	0.6605691056910569	242	0.6685082872928176	497	0.8688811188811189	448	0.5910290237467019	A	1.554	-0.538579	0.04053	0.612574	0.567326	ENSG00000169393	ENST00000339841	T	0.52295	0.67	3.66	1.54	0.23209	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.248846	0.28031	N	0.016863	T	0.00012	0.0000	N	0.20401	0.57	0.80722	P	0.0	B	0.14805	0.011	B	0.15870	0.014	T	0.44651	-0.9314	9	0.02654	T	1	.	3.8049	0.08773	0.4456:0.2051:0.3493:0.0	rs2303690;rs17845467;rs17858345;rs59769918;rs2303690	199	Q96BH3	ESPB1_HUMAN	K	199	ENSP00000340660:E199K	ENSP00000340660:E199K	E	+	1	0	ELSPBP1	53217319	0.439000	0.25610	0.044000	0.18714	0.012000	0.07955	0.521000	0.22893	0.108000	0.17862	-0.308000	0.09152	GAA		0.458	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			A	48525507	G	A	48525507	3	1	8	1	0	0	0	0	1	0	0	0	5083	1059	37	1	613	1	ELSPBP1	19	48525507	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	4940233	48525507	10603476	69	632											
ZNF415	55786	broad.mit.edu	37	chr19	53619570	53619570	+	Missense_Mutation	SNP	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	agaaaattatcctcacccagGgagaccaggttcctgtagtt	12	10	9	10	0	1	2	1	0	0	2	3	3	3	2	4	2	0	3	4	2	4	4			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:53619570G>T	ENST00000455735.2	-	4	390	c.70C>A	c.(70-72)Cct>Act	p.P24T	ZNF415_ENST00000595193.1_Silent_p.S44S|ZNF415_ENST00000448501.1_Missense_Mutation_p.P24T|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000599261.1_Silent_p.S44S|ZNF415_ENST00000421033.1_Missense_Mutation_p.P24T|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000597503.1_Silent_p.S44S|ZNF415_ENST00000500065.4_Silent_p.S44S|ZNF415_ENST00000594011.1_Silent_p.S44S|ZNF415_ENST00000595813.1_Silent_p.S44S|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000597748.1_Silent_p.S44S|ZNF415_ENST00000243643.4_Silent_p.S44S|ZNF415_ENST00000600574.1_Silent_p.S44S|ZNF415_ENST00000601493.1_Intron			Q09FC8	ZN415_HUMAN	zinc finger protein 415	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCTCACCCAGGGAGACCAGGT	0.468																																						.											0													112	113	113					19																	53619570		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000455735.2:c.70C>A	19.37:g.53619570G>T	ENSP00000388787:p.Pro24Thr		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000455735.2	37		.	.	.	.	.	.	.	.	.	.	G	15.11	2.736104	0.49045	.	.	ENSG00000170954	ENST00000448501;ENST00000421033;ENST00000455735	T;T;T	0.21191	2.51;2.02;2.51	2.95	-0.803	0.10886	.	.	.	.	.	T	0.12689	0.0308	.	.	.	0.28510	N	0.913607	P;P;P	0.46512	0.808;0.808;0.879	B;B;B	0.36885	0.118;0.118;0.235	T	0.19321	-1.0309	8	0.87932	D	0	.	5.3206	0.15879	0.4892:0.0:0.5108:0.0	.	24;24;24	B3KTG1;Q09FC8;Q09FC8-2	.;ZN415_HUMAN;.	T	24	ENSP00000396492:P24T;ENSP00000395055:P24T;ENSP00000388787:P24T	ENSP00000395055:P24T	P	-	1	0	ZNF415	58311382	0.000000	0.05858	0.866000	0.34008	0.950000	0.60333	-2.807000	0.00757	0.056000	0.16144	0.462000	0.41574	CCT		0.468	ZNF415-204	KNOWN	basic	protein_coding	protein_coding		NM_018355		T	53619570	G	T	53619570	3	4	8	1	0	0	0	0	1	0	0	0	17889	1219	43	5	1543	5	ZNF415	19	53619570	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	5094063	53619570	5509413	70	633											
EPS8L1	54869	hgsc.bcm.edu;bcgsc.ca	37	chr19	55598783	55598783	+	Missense_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	gtgtgtacagccaggtcaccGtgcagcgctcgctgctggag	6	8	15	12	3	1	0	1	0	0	0	2	1	1	1	2	2	5	5	2	2	1	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr19:55598783G>T	ENST00000201647.6	+	19	2121	c.2065G>T	c.(2065-2067)Gtg>Ttg	p.V689L	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.V562L|EPS8L1_ENST00000588359.1_Missense_Mutation_p.V375L|EPS8L1_ENST00000540810.1_Missense_Mutation_p.V625L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	689					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)		CCAGGTCACCGTGCAGCGCTC	0.677																																					Ovarian(149;255 1863 3636 27051 29647)	.											0													59	61	60					19																	55598783		2203	4299	6502	SO:0001583	missense	54869			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.2065G>T	19.37:g.55598783G>T	ENSP00000201647:p.Val689Leu		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754167	0.89843	.	.	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.27720	1.65;1.65;1.65	3.79	3.79	0.43588	.	0.073437	0.52532	D	0.000063	T	0.47173	0.1431	L	0.51914	1.62	0.58432	D	0.999999	D;D;P	0.67145	0.996;0.992;0.941	D;P;P	0.79108	0.992;0.875;0.72	T	0.37526	-0.9702	10	0.37606	T	0.19	-25.4363	13.9264	0.63966	0.0:0.0:1.0:0.0	.	468;562;689	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	L	689;625;562;375	ENSP00000201647:V689L;ENSP00000437541:V625L;ENSP00000245618:V562L	ENSP00000201647:V689L	V	+	1	0	EPS8L1	60290595	1.000000	0.71417	0.910000	0.35882	0.600000	0.36913	5.846000	0.69444	2.060000	0.61445	0.313000	0.20887	GTG		0.677	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		T	55598783	G	T	55598783	3	4	8	1	0	0	0	0	1	0	0	0	5195	1145	40	5	2187	5	EPS8L1	19	55598783	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	1979213	55598783	3530200	71	634											
B4GALT5	9334	ucsc.edu	37	chr20	48330133	48330133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgccgggcgccacatagAcgaagtacagcagcgaggac	12	4	13	12	4	0	1	0	0	0	1	0	4	0	2	2	2	4	2	2	2	4	3			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr20:48330133A>G	ENST00000371711.4	-	1	282	c.95T>C	c.(94-96)gTc>gCc	p.V32A		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	32					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)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CGCCACATAGACGAAGTACAG	0.706																																						.											0													9	12	11					20																	48330133		2165	4274	6439	SO:0001583	missense	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.95T>C	20.37:g.48330133A>G	ENSP00000360776:p.Val32Ala		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071871	0.36566	.	.	ENSG00000158470	ENST00000371711	T	0.43688	0.94	2.7	2.7	0.31948	.	0.229171	0.36854	U	0.002371	T	0.30479	0.0766	L	0.36672	1.1	0.35194	D	0.773674	B	0.09022	0.002	B	0.08055	0.003	T	0.32666	-0.9898	10	0.39692	T	0.17	-1.105	9.6737	0.40028	1.0:0.0:0.0:0.0	.	32	O43286	B4GT5_HUMAN	A	32	ENSP00000360776:V32A	ENSP00000360776:V32A	V	-	2	0	B4GALT5	47763540	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	1.967000	0.40491	1.098000	0.41479	0.164000	0.16699	GTC		0.706	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		G	48330133	A	G	48330133	3	3	8	1	0	0	0	0	1	0	0	0	1274	275	10	2	1107	2	B4GALT5	20	48330133	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10		48330133	14695387	72	635											
SLCO4A1	28231	broad.mit.edu	37	chr20	61292501	61292501	+	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	gaggcgagcaacccggacttTgggaaaaccatcagagacct	13	5	12	11	2	1	1	1	0	0	1	1	6	1	3	3	3	3	1	3	3	3	1			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr20:61292501T>G	ENST00000370507.1	+	4	1191	c.1095T>G	c.(1093-1095)ttT>ttG	p.F365L	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.F365L|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	365					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)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACCCGGACTTTGGGAAAACCA	0.597																																					Pancreas(168;741 2006 10379 40139 45334)	.											0													79	71	74					20																	61292501		2203	4300	6503	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1095T>G	20.37:g.61292501T>G	ENSP00000359538:p.Phe365Leu		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	t	10.30	1.313437	0.23908	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.38077	1.16;1.16	4.25	0.186	0.15105	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	L	0.28694	0.88	0.44092	D	0.996859	B	0.09022	0.002	B	0.20384	0.029	T	0.10660	-1.0620	10	0.16896	T	0.51	.	10.1154	0.42587	0.0:0.169:0.0:0.831	.	365	Q96BD0	SO4A1_HUMAN	L	365	ENSP00000217159:F365L;ENSP00000359538:F365L	ENSP00000217159:F365L	F	+	3	2	SLCO4A1	60762946	0.985000	0.35326	0.380000	0.26093	0.056000	0.15407	0.095000	0.15127	-0.276000	0.09206	-0.404000	0.06349	TTT		0.597	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		G	61292501	T	G	61292501	3	3	8	1	0	0	0	0	1	0	0	0	14729	1809	63	5	1109	5	SLCO4A1	20	61292501	Missense_Mutation	SNP	T	TCGA-KL-8330-01A-11D-2310-10	12962368	61292501	1733019	73	636											
GSC2	2928	hgsc.bcm.edu;mdanderson.org	37	chr22	19137290	19137290	+	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	gcctgcagctgctcttcgctGaagatggtgcggtggcgcct	4	10	15	12	3	1	2	0	1	1	1	2	2	1	2	2	3	4	4	2	3	1	1	rs201641909	byFrequency	TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chr22:19137290G>A	ENST00000086933.2	-	2	398	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	133					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					GCTCTTCGCTGAAGATGGTGC	0.716													g|||	8	0.00159744	0.0053	0.0014	5008	,	,		8606	0		0	False		,,,				2504	0					.											0										4,4216		0,4,2106	8	10	10		399	3.5	1	22		10	0,8348		0,0,4174	no	coding-synonymous	GSC2	NM_005315.1		0,4,6280	AA,AG,GG		0.0,0.0948,0.0318		133/206	19137290	4,12564	2110	4174	6284	SO:0001819	synonymous_variant	2928				CCDS13757.1	22q11.21	2011-06-20	2007-08-28	2007-08-28	ENSG00000063515	ENSG00000063515		"Homeoboxes / PRD class"	4613	protein-coding gene	gene with protein product		601845	"goosecoid-like"	GSCL		9150167	Standard	NM_005315		Approved		uc011ags.2	O15499	OTTHUMG00000150122	ENST00000086933.2:c.399C>T	22.37:g.19137290G>A				Silent	SNP	ENST00000086933.2	37	CCDS13757.1																																																																																				0.716	GSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316440.2	NM_005315		A	19137290	G	A	19137290	2	1	8	1	0	0	0	0	0	0	0	1	6815	1281	45	4		4	GSC2	22	19137290	Silent	SNP	G	TCGA-KL-8330-01A-11D-2310-10		19137290	32167276	74	637											
DMD	1756	broad.mit.edu;bcgsc.ca	37	chrX	32408279	32408279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaactgatctcatgacttGtcaaatcagattggattttc	12	15	6	8	0	3	3	3	2	1	1	5	4	3	4	0	1	1	0	0	1	3	5			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chrX:32408279G>T	ENST00000357033.4	-	31	4459	c.4253C>A	c.(4252-4254)aCa>aAa	p.T1418K	DMD_ENST00000378677.2_Missense_Mutation_p.T1414K	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	1418	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)	p.T1414R(1)|p.T77R(1)|p.T1418R(1)|p.T1413R(1)		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)				CTCATGACTTGTCAAATCAGA	0.388																																						.											4	Substitution - Missense(4)	lung(4)											133	106	115					X																	32408279		2202	4300	6502	SO:0001583	missense	1756			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.4253C>A	X.37:g.32408279G>T	ENSP00000354923:p.Thr1418Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887785	0.52014	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.20738	2.05;2.05	5.77	5.77	0.91146	.	0.000000	0.38058	U	0.001840	T	0.19446	0.0467	L	0.44542	1.39	0.80722	D	1	P;B;P;P;P	0.45827	0.867;0.014;0.791;0.596;0.596	B;B;B;B;B	0.42282	0.382;0.008;0.212;0.154;0.154	T	0.02484	-1.1152	10	0.19147	T	0.46	.	12.5325	0.56124	0.0781:0.0:0.9219:0.0	.	1410;1418;1414;77;74	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1410;77;74;1414;1418;1418;1295	ENSP00000367948:T1414K;ENSP00000354923:T1418K	ENSP00000354923:T1418K	T	-	2	0	DMD	32318200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.241000	0.51376	2.557000	0.86248	0.594000	0.82650	ACA		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32408279	G	T	32408279	3	4	8	1	0	0	0	0	1	0	0	0	4580	1377	48	5	7148	5	DMD	23	32408279	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10		32408279	122862281	75	638											
THOC2	57187	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	122759902	122759902	+	Missense_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	gctgtagaaattttgtgatgGtctcatttttggtagattct	8	19	10	4	0	2	3	1	1	2	2	3	3	2	3	0	2	0	3	0	2	3	7			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chrX:122759902G>A	ENST00000245838.8	-	25	2949	c.2918C>T	c.(2917-2919)aCc>aTc	p.T973I	THOC2_ENST00000491737.1_Missense_Mutation_p.T858I|THOC2_ENST00000355725.4_Missense_Mutation_p.T973I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	973					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						TTTTGTGATGGTCTCATTTTT	0.343																																						.											0													68	59	62					X																	122759902		1805	4069	5874	SO:0001583	missense	57187			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.2918C>T	X.37:g.122759902G>A	ENSP00000245838:p.Thr973Ile		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220729	0.79464	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	T;T;T	0.22539	1.95;1.95;1.95	5.83	5.83	0.93111	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.41949	0.1181	L	0.61036	1.89	0.80722	D	1	D	0.59767	0.986	P	0.60609	0.877	T	0.04900	-1.0919	10	0.27785	T	0.31	-5.9519	19.0992	0.93266	0.0:0.0:1.0:0.0	.	973	Q8NI27	THOC2_HUMAN	I	973;973;858	ENSP00000245838:T973I;ENSP00000347959:T973I;ENSP00000419795:T858I	ENSP00000245838:T973I	T	-	2	0	THOC2	122587583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.810000	0.99221	2.460000	0.83146	0.600000	0.82982	ACC		0.343	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			A	122759902	G	A	122759902	3	1	8	1	0	0	0	0	1	0	0	0	15862	1261	44	3	1919	3	THOC2	23	122759902	Missense_Mutation	SNP	G	TCGA-KL-8330-01A-11D-2310-10	90351623	122759902	32510658	76	639											
RBMX	27316	hgsc.bcm.edu	37	chrX	135956574	135956574	+	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	ctgcttccaccataagatggCgggggccctcgtgtaggtgg	6	9	15	11	2	0	1	0	0	0	1	2	1	1	1	3	5	1	2	3	5	2	3			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chrX:135956574C>G	ENST00000320676.7	-	9	1057	c.903G>C	c.(901-903)ccG>ccC	p.P301P	RBMX_ENST00000570135.1_Silent_p.P166P|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000565438.1_Silent_p.P173P|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	301					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CATAAGATGGCGGGGGCCCTC	0.463																																						.											0													92	86	88					X																	135956574		2203	4300	6503	SO:0001819	synonymous_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.903G>C	X.37:g.135956574C>G			B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Silent	SNP	ENST00000320676.7	37	CCDS14661.1																																																																																				0.463	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		G	135956574	C	G	135956574	2	3	8	1	0	0	0	0	0	0	0	1	13151	755	27	5		5	RBMX	23	135956574	Silent	SNP	C	TCGA-KL-8330-01A-11D-2310-10	13196672	135956574	19313986	77	640											
MTM1	4534	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	149764981	149764981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacgtctcgagatggagtcaAtcgagatctcactgaggctg	10	9	13	9	3	3	3	2	1	2	2	6	7	3	4	0	2	0	1	0	2	1	0			TCGA-KL-8330-01A-11D-2310-10	TCGA-KL-8330-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	09537dce-c797-4b60-962a-d4c3cd6ab00a	1d82038a-3a67-4b82-8e8d-5ba2c855b563	g.chrX:149764981A>G	ENST00000370396.2	+	3	137	c.83A>G	c.(82-84)aAt>aGt	p.N28S	MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000543350.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.N28S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	28					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGAGTCAATCGAGATCTC	0.418																																						.											0													143	113	123					X																	149764981		2203	4300	6503	SO:0001583	missense	4534			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.83A>G	X.37:g.149764981A>G	ENSP00000359423:p.Asn28Ser		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	A	9.073	0.997307	0.19043	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.95821	-3.82;-3.5;-3.82	5.68	-4.87	0.03123	.	0.547300	0.21719	N	0.070141	D	0.85186	0.5639	N	0.13235	0.315	0.19575	N	0.999969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.74569	-0.3622	10	0.27785	T	0.31	.	5.7616	0.18203	0.4035:0.4309:0.0684:0.0973	.	28;28	B7Z491;Q13496	.;MTM1_HUMAN	S	28	ENSP00000359423:N28S;ENSP00000400699:N28S;ENSP00000389157:N28S	ENSP00000359423:N28S	N	+	2	0	MTM1	149515639	0.414000	0.25408	0.000000	0.03702	0.693000	0.40251	1.427000	0.34881	-0.704000	0.05042	-0.508000	0.04489	AAT		0.418	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		G	149764981	A	G	149764981	3	3	8	1	0	0	0	0	1	0	0	0	9937	101	4	4	89	4	MTM1	23	149764981	Missense_Mutation	SNP	A	TCGA-KL-8330-01A-11D-2310-10	13808407	149764981	5505579	78	641											
C1orf177	163747	hgsc.bcm.edu	37	chr1	55273584	55273584	+	Frame_Shift_Del	DEL	C	C	-																															gcaaaagctgggccccggctCctacaacctcaaagacttct																										TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr1:55273584delC	ENST00000371273.3	+	4	395	c.380delC	c.(379-381)tccfs	p.S127fs	C1orf177_ENST00000358193.3_Frame_Shift_Del_p.S127fs	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	127										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGCCCCGGCTCCTACAACCTC	0.552																																						.											0													71	81	78					1																	55273584		2203	4300	6503	SO:0001589	frameshift_variant	163747			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.380delC	1.37:g.55273584delC	ENSP00000360320:p.Ser127fs		B7WPL2|Q8N7Y9	Frame_Shift_Del	DEL	ENST00000371273.3	37	CCDS44153.1																																																																																				0.552	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		-	55273584	C	-	55273584	7	5	9	1	0	1	0	1	0	0	0	0	2017	855	30	0	394	0	C1orf177	1	55273584	Frame_Shift_Del	DEL	C	TCGA-KL-8331-01A-11D-2310-10		55273584	193977037	1	642											
PDE4DIP	9659	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	144931626	144931626	+	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	gcgaaagcagaacctggagaTtgagcttggacgccgtgtgg	10	7	16	8	3	0	3	0	1	0	2	0	6	0	4	2	3	3	2	2	3	2	2	rs79158320	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr1:144931626T>C	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.N28S|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.N28S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						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)		AACCTGGAGATTGAGCTTGGA	0.567			T	PDGFRB	MPD								T|||	49	0.00978435	0.0325	0.0058	5008	,	,		34556	0.002		0	False		,,,				2504	0					.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0								T	SER/ASN,,,,	128,4278	84.4+/-122.9	0,128,2075	65	65	65		83,,,,	5.3	1	1	dbSNP_131	65	3,8597	2.2+/-6.3	0,3,4297	yes	missense,intron,intron,intron,intron	PDE4DIP	NM_001002811.1,NM_001002812.1,NM_001198832.1,NM_001198834.2,NM_014644.4	46,,,,	0,131,6372	CC,CT,TT		0.0349,2.9051,1.0072	,,,,	28/1133,,,,	144931626	131,12875	2203	4300	6503	SO:0001627	intron_variant	9659			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.637-7805A>G	1.37:g.144931626T>C			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	22	0.010073260073260074	19	0.03861788617886179	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	T	14.81	2.646949	0.47258	0.029051	3.49E-4	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.14144	2.53;2.53	5.3	5.3	0.74995	.	.	.	.	.	T	0.08846	0.0219	L	0.42245	1.32	0.80722	D	1	P	0.51537	0.946	P	0.50270	0.636	T	0.19712	-1.0297	9	0.12103	T	0.63	.	13.1866	0.59684	0.0:0.0:0.0:1.0	.	28	Q5VU43-2	.	S	28	ENSP00000316434:N28S;ENSP00000433392:N28S	ENSP00000316434:N28S	N	-	2	0	PDE4DIP	143642983	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.031000	0.57267	1.996000	0.58369	0.379000	0.24179	AAT		0.567	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144931626	T	C	144931626	1	2	9	0	1	0	0	0	0	0	0	0	11643	1493	52	4		4	PDE4DIP	1	144931626	Intron	SNP	T	TCGA-KL-8331-01A-11D-2310-10	89658042	144931626	104318995	2	643											
DTL	51514	ucsc.edu	37	chr1	212254059	212254059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacggtgggttgggccTctcagaagaaaaaagagtca	12	9	12	8	1	2	3	2	0	1	3	4	3	3	3	2	3	0	1	2	3	4	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr1:212254059T>C	ENST00000366991.4	+	13	1542	c.1228T>C	c.(1228-1230)Tct>Cct	p.S410P	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.S368P	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	410					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GGGTTGGGCCTCTCAGAAGAA	0.418																																						.											0													123	134	131					1																	212254059		2203	4300	6503	SO:0001583	missense	51514			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1228T>C	1.37:g.212254059T>C	ENSP00000355958:p.Ser410Pro		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439703	0.63067	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.71341	-0.49;-0.56	5.27	5.27	0.74061	.	0.659654	0.16073	N	0.230900	T	0.57198	0.2037	L	0.36672	1.1	0.32356	N	0.557877	P;P;P	0.39717	0.684;0.682;0.627	B;B;B	0.37144	0.242;0.239;0.184	T	0.59611	-0.7422	10	0.02654	T	1	-39.257	14.4635	0.67467	0.0:0.0:0.0:1.0	.	368;410;368	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	P	410;368;89	ENSP00000355958:S410P;ENSP00000443870:S368P	ENSP00000355958:S410P	S	+	1	0	DTL	210320682	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.100000	0.41777	2.124000	0.65301	0.529000	0.55759	TCT		0.418	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		C	212254059	T	C	212254059	3	2	9	1	0	0	0	0	1	0	0	0	4787	1551	54	2	1278	2	DTL	1	212254059	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10	67322433	212254059	36996562	3	644											
POTEF	728378	hgsc.bcm.edu;mdanderson.org	37	chr2	130832597	130832597	+	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	atgatctgggtcatcttctcGcggttggccttagggttcag	5	14	13	9	2	5	1	2	1	3	0	6	1	5	1	1	4	0	2	1	4	1	4	rs562326654		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr2:130832597G>A	ENST00000409914.2	-	17	2847	c.2448C>T	c.(2446-2448)cgC>cgT	p.R816R	POTEF_ENST00000357462.5_Silent_p.R816R	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	816	Actin-like.				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						TCATCTTCTCGCGGTTGGCCT	0.592													.|||	1	0.000199681	0	0	5008	,	,		20870	0.001		0	False		,,,				2504	0					.											0													117	129	125					2																	130832597		2203	4300	6503	SO:0001819	synonymous_variant	728378			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.2448C>T	2.37:g.130832597G>A			A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																				0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130832597	G	A	130832597	2	1	9	1	0	0	0	0	0	0	0	1	12265	1074	38	1		1	POTEF	2	130832597	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10		130832597	112366776	4	645											
SCN2A	6326	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	166211041	166211041	+	Missense_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	gcagtgtagaaaaatatgtcGtggatgaaagtgattacatg	15	11	12	3	1	0	3	0	2	0	1	1	4	0	4	0	1	1	2	0	1	6	3			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr2:166211041G>A	ENST00000375437.2	+	17	3549	c.3259G>A	c.(3259-3261)Gtg>Atg	p.V1087M	SCN2A_ENST00000375427.2_Missense_Mutation_p.V1087M|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1087M|SCN2A_ENST00000357398.3_Missense_Mutation_p.V1087M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1087					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAATATGTCGTGGATGAAAG	0.378																																						.											0													112	110	110					2																	166211041		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3259G>A	2.37:g.166211041G>A	ENSP00000364586:p.Val1087Met		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610124	0.14066	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.26	4.26	0.50523	Sodium ion transport-associated (1);	0.221616	0.30979	N	0.008492	T	0.61874	0.2382	N	0.02765	-0.5	0.35063	D	0.761745	B;B	0.14012	0.009;0.008	B;B	0.19391	0.012;0.025	T	0.64188	-0.6466	10	0.25751	T	0.34	.	10.2776	0.43519	0.1701:0.0:0.8299:0.0	.	1087;1087	Q99250-2;Q99250	.;SCN2A_HUMAN	M	1087	ENSP00000364586:V1087M;ENSP00000349973:V1087M;ENSP00000283256:V1087M;ENSP00000364576:V1087M	ENSP00000283256:V1087M	V	+	1	0	SCN2A	165919287	0.995000	0.38212	0.987000	0.45799	0.994000	0.84299	2.576000	0.46033	2.447000	0.82792	0.591000	0.81541	GTG		0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		A	166211041	G	A	166211041	3	1	9	1	0	0	0	0	1	0	0	0	13916	1145	40	1	3417	1	SCN2A	2	166211041	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	35378444	166211041	76988332	5	646											
ZFYVE28	57732	ucsc.edu;mdanderson.org	37	chr4	2307125	2307125	+	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	gagagtggcccctcagggggGagaggggcagagagggcagg	9	2	23	7	0	1	3	1	0	0	3	1	6	1	3	2	8	0	2	2	8	0	0	rs143836367	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr4:2307125G>A	ENST00000290974.2	-	8	1281	c.942C>T	c.(940-942)ctC>ctT	p.L314L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.L284L|ZFYVE28_ENST00000515312.1_Silent_p.L244L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	314					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCAGGGGGGAGAGGGGCAG	0.662																																						.											0													39	42	41					4																	2307125		2203	4298	6501	SO:0001819	synonymous_variant	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.942C>T	4.37:g.2307125G>A			B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	CCDS33942.1																																																																																				0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		A	2307125	G	A	2307125	2	1	9	1	0	0	0	0	0	0	0	1	17667	1161	41	3		3	ZFYVE28	4	2307125	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10		2307125	188847151	6	647											
FGG	2266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	155529663	155529663	+	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	gttccactcttaatgcatatGggatggcagactgtgtgctt	8	14	11	8	0	1	1	0	0	1	1	2	2	2	2	1	2	2	4	1	2	2	4			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr4:155529663G>A	ENST00000336098.3	-	7	844	c.806C>T	c.(805-807)cCa>cTa	p.P269L	FGG_ENST00000405164.1_Missense_Mutation_p.P277L|FGG_ENST00000407946.1_Missense_Mutation_p.P277L|FGG_ENST00000404648.3_Missense_Mutation_p.P269L	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	269	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAATGCATATGGGATGGCAGA	0.403																																						.											0													93	84	87					4																	155529663		2203	4300	6503	SO:0001583	missense	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.806C>T	4.37:g.155529663G>A	ENSP00000336829:p.Pro269Leu		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268247	0.95429	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.78344	2.41	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;1.0;1.0;1.0	D	0.98818	1.0746	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	166;277;269;277;269	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	L	269;277;269;277	ENSP00000384860:P269L;ENSP00000384101:P277L;ENSP00000336829:P269L;ENSP00000384552:P277L	ENSP00000336829:P269L	P	-	2	0	FGG	155749113	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	9.199000	0.95003	2.941000	0.99782	0.655000	0.94253	CCA		0.403	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		A	155529663	G	A	155529663	3	1	9	1	0	0	0	0	1	0	0	0	5870	1348	47	4	586	4	FGG	4	155529663	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	153222538	155529663	35624613	7	648											
LMBRD2	92255	broad.mit.edu	37	chr5	36123063	36123063	+	Splice_Site	DEL	A	A	-																															ttcctgatactctgtagggcActaaaaaaaaaaaaaagtag																										TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr5:36123063delA	ENST00000296603.4	-	8	1285	c.823delT	c.(823-825)tgc>gc	p.C275fs		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	275						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTAGGGCACtaaaaaaaa	0.249																																						.											0													40	43	42					5																	36123063		2200	4285	6485	SO:0001630	splice_region_variant	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.823-1T>-	5.37:g.36123063delA			B3KRB6|Q9NTC7	Frame_Shift_Del	DEL	ENST00000296603.4	37	CCDS34145.1																																																																																				0.249	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	Frame_Shift_Del	-	36123063	A	-	36123063	8	5	9	1	0	1	0	1	0	0	1	0	8843	173	6	0	1308	0	LMBRD2	5	36123063	Splice_Site	DEL	A	TCGA-KL-8331-01A-11D-2310-10		36123063	144792197	8	649											
SLC30A5	64924	broad.mit.edu	37	chr5	68390134	68390134	+	Frame_Shift_Del	DEL	G	G	-																															ccggccccggcggcggcggcGgccttgggccggtggacgta																										TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr5:68390134delG	ENST00000396591.3	+	1	662	c.52delG	c.(52-54)ggcfs	p.G18fs	SLC30A5_ENST00000502979.1_Frame_Shift_Del_p.G18fs|SLC30A5_ENST00000380860.4_Frame_Shift_Del_p.G18fs	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	18	Poly-Gly.				cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		cggcggcggcggccTTGGGCC	0.741																																						.											0													2	4	3					5																	68390134		1267	2522	3789	SO:0001589	frameshift_variant	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.52delG	5.37:g.68390134delG	ENSP00000379836:p.Gly18fs		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Frame_Shift_Del	DEL	ENST00000396591.3	37	CCDS3996.1																																																																																				0.741	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			-	68390134	G	-	68390134	7	5	9	1	0	1	0	1	0	0	0	0	14558	1116	39	0	54	0	SLC30A5	5	68390134	Frame_Shift_Del	DEL	G	TCGA-KL-8331-01A-11D-2310-10	32267071	68390134	112525126	9	650											
HAPLN1	1404	bcgsc.ca	37	chr5	82937410	82937410	+	Missense_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	agcctcagtaggactgcagcGccttcttggcctagagatgg	8	9	13	11	1	2	1	1	0	1	1	2	3	2	2	3	3	3	2	3	3	2	4			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr5:82937410G>A	ENST00000274341.4	-	5	1820	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	324	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GGACTGCAGCGCCTTCTTGGC	0.532																																						.											0													107	113	111					5																	82937410		2203	4300	6503	SO:0001583	missense	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.970C>T	5.37:g.82937410G>A	ENSP00000274341:p.Arg324Cys		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215621	0.39102	.	.	ENSG00000145681	ENST00000274341	T	0.31769	1.48	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.65228	-0.6219	10	0.87932	D	0	.	19.1617	0.93535	0.0:0.0:1.0:0.0	.	324	P10915	HPLN1_HUMAN	C	324	ENSP00000274341:R324C	ENSP00000274341:R324C	R	-	1	0	HAPLN1	82973166	0.997000	0.39634	1.000000	0.80357	0.169000	0.22640	2.513000	0.45494	2.581000	0.87130	0.655000	0.94253	CGC		0.532	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		A	82937410	G	A	82937410	3	1	9	1	0	0	0	0	1	0	0	0	6954	1087	38	1	98	1	HAPLN1	5	82937410	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	14547276	82937410	97977850	10	651											
ANKRD43	134548	broad.mit.edu	37	chr5	132150835	132150835	+	Missense_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	ccttcagcaagttcttgagcGcctcgcccatggctccacgt	6	10	9	16	3	2	1	1	1	1	0	4	1	3	1	4	1	2	3	4	1	1	3			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr5:132150835G>A	ENST00000378693.2	+	1	1803	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	508																	GTTCTTGAGCGCCTCGCCCAT	0.582																																						.											0													44	49	48					5																	132150835		2203	4300	6503	SO:0001583	missense	134548			AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1522G>A	5.37:g.132150835G>A	ENSP00000367965:p.Ala508Thr		Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116714	0.56505	.	.	ENSG00000198944	ENST00000378693	T	0.21932	1.98	6.15	4.3	0.51218	.	0.395022	0.20050	N	0.100303	T	0.14313	0.0346	L	0.46157	1.445	0.33529	D	0.593311	P	0.42456	0.78	B	0.27887	0.084	T	0.16837	-1.0389	10	0.30854	T	0.27	-23.571	11.5851	0.50914	0.0677:0.126:0.8062:0.0	.	508	Q2M3V2	ANR43_HUMAN	T	508	ENSP00000367965:A508T	ENSP00000367965:A508T	A	+	1	0	ANKRD43	132178734	0.972000	0.33761	0.998000	0.56505	0.496000	0.33645	1.574000	0.36482	2.932000	0.99384	0.643000	0.83706	GCC		0.582	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		A	132150835	G	A	132150835	3	1	9	1	0	0	0	0	1	0	0	0	671	1087	38	1	1524	1	ANKRD43	5	132150835	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	49213425	132150835	48764425	11	652											
DHX16	8449	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr6	30623374	30623374	+	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	atctcctctgaacagctgtaCctgggacaggaaggggaaag	12	7	13	9	0	2	1	0	1	2	0	3	4	2	4	2	4	3	2	2	4	4	1			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:30623374C>T	ENST00000376442.3	-	17	2694	c.2499G>A	c.(2497-2499)aaG>aaA	p.K833K	DHX16_ENST00000376437.5_Splice_Site_p.K352K	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	833					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AACAGCTGTACCTGGGACAGG	0.498																																						.											0													65	62	63					6																	30623374		1510	2709	4219	SO:0001630	splice_region_variant	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2499-1G>A	6.37:g.30623374C>T			O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	CCDS4685.1																																																																																				0.498	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	Silent	T	30623374	C	T	30623374	5	4	9	1	0	0	0	0	0	0	1	0	4502	521	18	3	642	3	DHX16	6	30623374	Splice_Site	SNP	C	TCGA-KL-8331-01A-11D-2310-10		30623374	140491693	12	653											
MUC21	394263	mdanderson.org	37	chr6	30954600	30954600	+	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	gccaccaactctgagtccagAacgacctccaatggggctgg	10	6	11	14	1	1	2	0	1	1	1	3	3	3	2	5	3	2	1	5	3	3	0	rs552812759	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:30954600A>C	ENST00000376296.3	+	2	889	c.648A>C	c.(646-648)agA>agC	p.R216S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	216	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						CTGAGTCCAGAACGACCTCCA	0.617													a|||	17	0.00339457	0.0023	0.0101	5008	,	,		23080	0.003		0.003	False		,,,				2504	0.001					.											0													154	152	153					6																	30954600		2203	4300	6503	SO:0001583	missense	394263			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.648A>C	6.37:g.30954600A>C	ENSP00000365473:p.Arg216Ser		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.570408	0.00895	.	.	ENSG00000204544	ENST00000376296	T	0.01165	5.24	3.65	-7.29	0.01451	.	.	.	.	.	T	0.00109	0.0003	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39035	-0.9633	8	.	.	.	0.2248	6.4041	0.21654	0.4184:0.1401:0.0:0.4415	.	216	Q5SSG8	MUC21_HUMAN	S	216	ENSP00000365473:R216S	.	R	+	3	2	MUC21	31062579	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.119000	0.00080	-3.816000	0.00103	-1.775000	0.00657	AGA		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		C	30954600	A	C	30954600	3	2	9	1	0	0	0	0	1	0	0	0	9977	243	9	5	654	5	MUC21	6	30954600	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10	331226	30954600	140160467	13	654											
C4A	720	broad.mit.edu	37	chr6	31963559	31963559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcttggttgtcacgggAcagcagcacctggtgagctt	6	10	15	10	2	1	1	1	1	0	0	1	2	1	2	1	4	4	5	1	4	0	3	rs147162052		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:31963559A>G	ENST00000428956.2	+	25	3302	c.3218A>G	c.(3217-3219)gAc>gGc	p.D1073G	C4A_ENST00000498271.1_Missense_Mutation_p.D1073G	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1073			D -> G (in allotype C4A1, allotype C4A2; dbSNP:rs147162052). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3696167, ECO:0000269|Ref.8}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGTCACGGGACAGCAGCACC	0.612																																						.											0													101	86	91					6																	31963559		1499	2656	4155	SO:0001583	missense	720			L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"Blood group antigens", "Complement system"	1323	protein-coding gene	gene with protein product		120810	"complement component 4A"				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3218A>G	6.37:g.31963559A>G	ENSP00000396688:p.Asp1073Gly		A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000428956.2	37	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	A	1.712	-0.498842	0.04291	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37915	1.17;1.17	3.11	1.88	0.25563	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.	.	.	.	T	0.16642	0.0400	M	0.64170	1.965	0.80722	D	1	B;B	0.19200	0.015;0.034	B;B	0.23150	0.026;0.044	T	0.04885	-1.0920	9	0.46703	T	0.11	.	5.4739	0.16686	0.8606:0.0:0.1394:0.0	.	1073;1073	A6H8M8;P0C0L4	.;CO4A_HUMAN	G	1073	ENSP00000396688:D1073G;ENSP00000420212:D1073G	ENSP00000396688:D1073G	D	+	2	0	C4A	32071538	0.168000	0.22989	0.910000	0.35882	0.043000	0.13939	0.471000	0.22100	0.399000	0.25367	-1.226000	0.01582	GAC		0.612	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		G	31963559	A	G	31963559	3	3	9	1	0	0	0	0	1	0	0	0	2247	275	10	2	3316	2	C4A	6	31963559	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10	1008959	31963559	139151508	14	655											
TNXB	7148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	32052298	32052298	+	Missense_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	ggaggtgatgacggccgagcGctggggtccttccacgggca	6	6	18	11	4	0	2	0	2	0	0	2	4	2	3	3	6	1	2	3	6	0	1	rs367775946		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:32052298G>A	ENST00000375244.3	-	8	3538	c.3337C>T	c.(3337-3339)Cgc>Tgc	p.R1113C	TNXB_ENST00000375247.2_Missense_Mutation_p.R1113C			P22105	TENX_HUMAN	tenascin XB	1200	Fibronectin type-III 3. {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						ACGGCCGAGCGCTGGGGTCCT	0.617																																						.											0								G	CYS/ARG	0,2602		0,0,1301	42	46	45		3337	4.2	1	6		45	1,5097		0,1,2548	no	missense	TNXB	NM_019105.6	180	0,1,3849	AA,AG,GG		0.0196,0.0,0.013	probably-damaging	1113/4243	32052298	1,7699	1301	2549	3850	SO:0001583	missense	7148			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.3337C>T	6.37:g.32052298G>A	ENSP00000364393:p.Arg1113Cys		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	18.00	3.524889	0.64747	0.0	1.96E-4	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55052	0.54;0.54	4.23	4.23	0.50019	.	0.157128	0.30383	N	0.009750	T	0.73032	0.3535	M	0.91038	3.17	0.47037	D	0.99929	D	0.89917	1.0	D	0.74348	0.983	T	0.80339	-0.1424	10	0.66056	D	0.02	.	15.5671	0.76303	0.0:0.0:1.0:0.0	.	1113	P22105-3	.	C	1113	ENSP00000364393:R1113C;ENSP00000364396:R1113C	ENSP00000364393:R1113C	R	-	1	0	TNXB	32160276	1.000000	0.71417	0.995000	0.50966	0.591000	0.36615	6.136000	0.71703	2.200000	0.70718	0.655000	0.94253	CGC		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32052298	G	A	32052298	3	1	9	1	0	0	0	0	1	0	0	0	16343	1087	38	1	11524	1	TNXB	6	32052298	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	88739	32052298	139062769	15	656											
CDKN1A	1026	broad.mit.edu;hgsc.bcm.edu	37	chr6	36652011	36652012	+	Frame_Shift_Ins	INS	-	-	C																															ggcgggctgcatccaggaggINScccgtgagcgatggaacttc																										TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:36652011_36652012insC	ENST00000405375.1	+	2	368_369	c.133_134insC	c.(133-135)gccfs	p.A45fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	45					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CATCCAGGAGGCCCGTGAGCGA	0.658																																						.											0																																										SO:0001589	frameshift_variant	1026			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.136dupC	6.37:g.36652014_36652014dupC	ENSP00000384849:p.Ala45fs		Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	CCDS4824.1																																																																																				0.658	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		C	36652012	-	C	36652011	7	5	9	1	0	1	1	0	0	0	0	0	3158	1203	42	0	135	0	CDKN1A	6	36652011	Frame_Shift_Ins	INS	-	TCGA-KL-8331-01A-11D-2310-10	4599713	36652011	134463056	16	657	18	2									
CDKN1A	1026	bcgsc.ca	37	chr6	36652012	36652013	+	Frame_Shift_Ins	INS	-	-	C																															gcgggctgcatccaggaggcINSccgtgagcgatggaacttcg																										TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:36652012_36652013insC	ENST00000405375.1	+	2	369_370	c.134_135insC	c.(133-138)gcccgtfs	p.R46fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.R80fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.R46fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.R46fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	46					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						ATCCAGGAGGCCCGTGAGCGAT	0.658																																						.											0																																										SO:0001589	frameshift_variant	1026			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.136dupC	6.37:g.36652014_36652014dupC	ENSP00000384849:p.Arg46fs		Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	CCDS4824.1																																																																																				0.658	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		C	36652013	-	C	36652012	7	5	9	1	0	1	1	0	0	0	0	0	3158	739	26	0	136	0	CDKN1A	6	36652012	Frame_Shift_Ins	INS	-	TCGA-KL-8331-01A-11D-2310-10	1	36652012	134463055	17	658	18	2									
BCLAF1	9774	hgsc.bcm.edu	37	chr6	136596668	136596668	+	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	atactaaacatactaagcatAcctttaacatgatgaaccaa	19	10	3	9	0	0	2	0	2	0	0	0	2	0	2	2	0	7	1	2	0	9	7			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr6:136596668A>C	ENST00000531224.1	-	6	2105		c.e6+1		BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000530767.1_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TACTAAGCATACCTTTAACAT	0.358																																					Colon(142;1534 1789 5427 7063 28491)	.											0													146	131	136					6																	136596668		2203	4300	6503	SO:0001630	splice_region_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1852+1T>G	6.37:g.136596668A>C			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Splice_Site	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813243	0.50527	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6834	0.62502	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCLAF1	136638361	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.987000	0.88182	2.149000	0.67028	0.377000	0.23210	.		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	Intron	C	136596668	A	C	136596668	5	2	9	1	0	0	0	0	0	0	1	0	1383	405	14	5	940	5	BCLAF1	6	136596668	Splice_Site	SNP	A	TCGA-KL-8331-01A-11D-2310-10	99944656	136596668	34518399	18	659											
KIAA0415	9907	broad.mit.edu	37	chr7	4830447	4830447	+	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	gctgccctgcccaggtgtccCccccaggtggtcaccgtgct	3	8	12	18	1	1	0	1	0	0	0	2	0	2	0	6	3	3	2	6	3	0	0			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:4830447C>A	ENST00000348624.4	+	16	2176	c.2082C>A	c.(2080-2082)ccC>ccA	p.P694P	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	694					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)											CCAGGTGTCCCCCCCAGGTGG	0.642																																						.											0													31	35	34					7																	4830447		2027	4172	6199	SO:0001819	synonymous_variant	9907			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.2082C>A	7.37:g.4830447C>A			Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	CCDS47528.1																																																																																				0.642	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			A	4830447	C	A	4830447	2	1	9	1	0	0	0	0	0	0	0	1	8175	610	22	5		5	KIAA0415	7	4830447	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10		4830447	154308216	19	660											
SLC29A4	222962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	5342510	5342510	+	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	acctacagcctcacccgcgaCgctcacggcagctgcctgca	8	5	9	19	4	2	0	2	0	0	0	2	1	2	0	4	1	5	4	4	1	1	1			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:5342510C>T	ENST00000396872.3	+	11	1694	c.1533C>T	c.(1531-1533)gaC>gaT	p.D511D	SLC29A4_ENST00000297195.4_Silent_p.D511D|SLC29A4_ENST00000406453.3_Silent_p.D497D|SLC29A4_ENST00000439491.2_Intron			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	511					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCACCCGCGACGCTCACGGCA	0.682																																						.											0													33	26	28					7																	5342510		2198	4293	6491	SO:0001819	synonymous_variant	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1533C>T	7.37:g.5342510C>T			Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	CCDS5340.1																																																																																				0.682	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		T	5342510	C	T	5342510	2	4	9	1	0	0	0	0	0	0	0	1	14537	535	19	1		1	SLC29A4	7	5342510	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10	512063	5342510	153796153	20	661											
GRM3	2913	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr7	86479790	86479790	+	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	atcctgtttcaaccccagaaGaatgttgtcacacacagact	13	10	6	12	0	2	3	2	0	0	3	3	3	3	3	3	0	1	2	3	0	3	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:86479790G>T	ENST00000361669.2	+	5	3595	c.2496G>T	c.(2494-2496)aaG>aaT	p.K832N	GRM3_ENST00000394720.2_Nonsense_Mutation_p.E475*|GRM3_ENST00000439827.1_Nonsense_Mutation_p.E477*|GRM3_ENST00000546348.1_Missense_Mutation_p.K424N|GRM3_ENST00000536043.1_Missense_Mutation_p.K704N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	832					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AACCCCAGAAGAATGTTGTCA	0.488																																					GBM(52;969 1098 3139 52280)	.											0													200	152	168					7																	86479790		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2496G>T	7.37:g.86479790G>T	ENSP00000355316:p.Lys832Asn		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.249934|7.249934	0.98164|0.98164	.|.	.|.	ENSG00000198822|ENSG00000198822	ENST00000439827;ENST00000394720|ENST00000361669;ENST00000546348;ENST00000536043	.|D;D;D	.|0.89485	.|-2.52;-2.41;-2.29	6.08|6.08	5.2|5.2	0.72013|0.72013	.|GPCR, family 3, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.90277	.|0.6959	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	A|A	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.79108	.|0.989;0.992;0.982	.|D	.|0.92864	.|0.6308	.|9	0.05721|0.72032	T|D	0.95|0.01	.|.	10.395|10.395	0.44196|0.44196	0.1466:0.0:0.8534:0.0|0.1466:0.0:0.8534:0.0	.|.	.|424;704;832	.|B7Z204;F5GYZ2;Q14832	.|.;.;GRM3_HUMAN	X|N	477;475|832;424;704	.|ENSP00000355316:K832N;ENSP00000444064:K424N;ENSP00000441407:K704N	ENSP00000378209:E475X|ENSP00000355316:K832N	E|K	+|+	1|3	0|2	GRM3|GRM3	86317726|86317726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.834000|5.834000	0.69361|0.69361	1.590000|1.590000	0.49995|0.49995	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.488	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86479790	G	T	86479790	3	4	9	1	0	0	0	0	1	0	0	0	6798	933	33	5	2510	5	GRM3	7	86479790	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	81137280	86479790	72658873	21	662											
PON3	5446	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	95024006	95024006	+	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	gttctactggctccacttctCgagaggcattcaccctttct	6	14	7	14	1	4	1	1	0	3	1	6	2	5	1	2	2	1	3	2	2	1	5			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:95024006C>T	ENST00000265627.5	-	2	105	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	PON1_ENST00000542556.1_Missense_Mutation_p.R32Q|PON3_ENST00000451904.1_Missense_Mutation_p.R32Q|PON3_ENST00000427422.1_Missense_Mutation_p.R32Q|PON3_ENST00000475439.1_5'UTR	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	32				R -> Q (in Ref. 8; AAC41996). {ECO:0000305}.	aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTCCACTTCTCGAGAGGCATT	0.443																																						.											0													148	119	129					7																	95024006		2203	4300	6503	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.95G>A	7.37:g.95024006C>T	ENSP00000265627:p.Arg32Gln		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560643	0.45590	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.42513	0.97;0.97;0.97	4.75	1.89	0.25635	Six-bladed beta-propeller, TolB-like (1);	0.194041	0.42682	D	0.000671	T	0.33206	0.0855	M	0.70108	2.13	0.23198	N	0.998135	B;D;P	0.56968	0.287;0.978;0.625	B;B;B	0.38562	0.016;0.276;0.034	T	0.38373	-0.9664	10	0.56958	D	0.05	-5.999	3.9929	0.09545	0.1878:0.6158:0.0:0.1963	.	32;32;32	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	Q	32	ENSP00000444854:R32Q;ENSP00000265627:R32Q;ENSP00000413276:R32Q	ENSP00000444854:R32Q	R	-	2	0	PON1;PON3	94861942	0.004000	0.15560	0.809000	0.32408	0.023000	0.10783	0.491000	0.22419	0.706000	0.31912	-0.188000	0.12872	CGA		0.443	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		T	95024006	C	T	95024006	3	4	9	1	0	0	0	0	1	0	0	0	12250	884	31	1	1001	1	PON3	7	95024006	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	8544216	95024006	64114657	22	663											
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	121699937	121699937	+	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	tgaggccaggagtctttgctGacattgtaagtaacaaggca	12	10	12	7	0	1	2	0	2	1	0	1	3	1	3	1	3	2	4	1	3	3	4			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:121699937G>T	ENST00000393386.2	+	29	7213	c.6802G>T	c.(6802-6804)Gac>Tac	p.D2268Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1401Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2268	Tyrosine-protein phosphatase 2. {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						AGTCTTTGCTGACATTGTAAG	0.393																																						.											0													99	90	93					7																	121699937		2203	4300	6503	SO:0001583	missense	5803			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.6802G>T	7.37:g.121699937G>T	ENSP00000377047:p.Asp2268Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076232	0.76415	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11495	2.77;2.77	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.36744	0.0978	M	0.71581	2.175	0.52099	D	0.999941	P;D;D	0.89917	0.937;0.994;1.0	P;D;D	0.87578	0.628;0.953;0.998	T	0.01405	-1.1363	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1407;1401;2268	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Y	2268;1401	ENSP00000377047:D2268Y;ENSP00000410000:D1401Y	ENSP00000377047:D2268Y	D	+	1	0	PTPRZ1	121487173	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	4.146000	0.58072	2.885000	0.99019	0.655000	0.94253	GAC		0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121699937	G	T	121699937	3	4	9	1	0	0	0	0	1	0	0	0	12814	1290	45	5	6916	5	PTPRZ1	7	121699937	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	26675931	121699937	37438726	23	664											
STRA8	346673	broad.mit.edu	37	chr7	134925328	134925328	+	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	atgacagagcaacaccccagCtgccagcacagctgcaggag	13	3	11	14	0	0	2	0	1	0	1	0	3	0	3	3	1	7	5	3	1	1	0			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:134925328C>A	ENST00000275764.3	+	2	118	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.L40M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AACACCCCAGCTGCCAGCACA	0.537																																						.											1	Substitution - Missense(1)	endometrium(1)											49	56	53					7																	134925328		2203	4300	6503	SO:0001583	missense	346673			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"stimulated by retinoic acid gene 8 homolog (mouse)", "stimulated by retinoic acid 8 homolog (mouse)"			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.118C>A	7.37:g.134925328C>A	ENSP00000275764:p.Leu40Met			Missense_Mutation	SNP	ENST00000275764.3	37	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471636	0.26423	.	.	ENSG00000146857	ENST00000275764	.	.	.	4.44	0.198	0.15168	.	0.882556	0.09763	N	0.759043	T	0.28499	0.0705	L	0.34521	1.04	0.09310	N	1	P	0.43094	0.799	B	0.42386	0.386	T	0.17107	-1.0380	9	0.35671	T	0.21	2.1207	8.9823	0.35972	0.2614:0.3107:0.4279:0.0	.	40	Q7Z7C7	STRA8_HUMAN	M	40	.	ENSP00000275764:L40M	L	+	1	2	STRA8	134575868	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.211000	0.09332	-0.150000	0.11195	0.455000	0.32223	CTG		0.537	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		A	134925328	C	A	134925328	3	1	9	1	0	0	0	0	1	0	0	0	15322	796	28	5	124	5	STRA8	7	134925328	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	13225391	134925328	24213335	24	665											
ABCF2	10061	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	150921103	150921103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaatgcaagggtgtcttGtcactagggggcatctctcg	9	10	12	10	1	3	0	1	0	2	0	5	0	3	0	0	3	1	2	0	3	3	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr7:150921103G>T	ENST00000287844.2	-	4	574	c.465C>A	c.(463-465)gaC>gaA	p.D155E	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.D155E	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	155	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)		AGGGTGTCTTGTCACTAGGGG	0.562																																						.											0													122	103	109					7																	150921103		2203	4300	6503	SO:0001583	missense	10061			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.465C>A	7.37:g.150921103G>T	ENSP00000287844:p.Asp155Glu		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833471	0.32421	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;T;T	0.91996	-2.9;-2.95;3.92;3.92	5.81	-1.61	0.08399	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.220386	0.53938	N	0.000048	T	0.81489	0.4833	L	0.32530	0.975	0.38767	D	0.954457	B;B	0.06786	0.001;0.001	B;B	0.16289	0.008;0.015	T	0.62728	-0.6793	10	0.25751	T	0.34	-3.7129	1.7619	0.02994	0.24:0.1044:0.4416:0.214	.	155;155	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	E	155	ENSP00000222388:D155E;ENSP00000287844:D155E;ENSP00000419720:D155E;ENSP00000395785:D155E	ENSP00000222388:D155E	D	-	3	2	ABCF2	150552036	0.781000	0.28676	0.995000	0.50966	0.993000	0.82548	-0.353000	0.07691	-0.121000	0.11787	0.655000	0.94253	GAC		0.562	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		T	150921103	G	T	150921103	3	4	9	1	0	0	0	0	1	0	0	0	66	1368	48	5	1495	5	ABCF2	7	150921103	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	15995775	150921103	8217560	25	666											
RP1L1	94137	hgsc.bcm.edu;ucsc.edu	37	chr8	10467237	10467237	+	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	gcacttgggtccgtctcgctGagatgactagggggctctgt	5	11	15	10	2	2	2	0	2	2	1	4	3	3	2	1	3	0	3	1	3	1	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr8:10467237G>T	ENST00000382483.3	-	4	4594	c.4371C>A	c.(4369-4371)ctC>ctA	p.L1457L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1537					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)		CCGTCTCGCTGAGATGACTAG	0.632																																						.											0													76	85	82					8																	10467237		1999	4191	6190	SO:0001819	synonymous_variant	94137			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.4371C>A	8.37:g.10467237G>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10467237	G	T	10467237	2	4	9	1	0	0	0	0	0	0	0	1	13533	1277	45	5		5	RP1L1	8	10467237	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10		10467237	135896785	26	667											
KIF13B	23303	ucsc.edu	37	chr8	29035051	29035051	+	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	ttcgttgctcgttcactgccAgctaaatccaccaggctgag	8	11	9	13	2	1	1	1	1	0	0	4	1	2	1	3	1	3	5	3	1	2	4			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr8:29035051A>G	ENST00000524189.1	-	9	803	c.765T>C	c.(763-765)gcT>gcC	p.A255A	KIF13B_ENST00000521515.1_Silent_p.A255A	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	255	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		GTTCACTGCCAGCTAAATCCA	0.473																																						.											0													143	144	144					8																	29035051		1949	4158	6107	SO:0001819	synonymous_variant	23303			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.765T>C	8.37:g.29035051A>G			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																				0.473	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			G	29035051	A	G	29035051	2	3	9	1	0	0	0	0	0	0	0	1	8275	175	7	2		2	KIF13B	8	29035051	Silent	SNP	A	TCGA-KL-8331-01A-11D-2310-10	18567814	29035051	117328971	27	668											
TMC1	117531	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	75309495	75309495	+	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	ggtggaagataagctacctcGaagagagagcttgagaccaa	15	6	13	7	1	0	4	0	1	0	4	1	8	0	5	2	2	3	2	2	2	5	3			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr9:75309495G>A	ENST00000297784.5	+	7	641	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	TMC1_ENST00000396237.3_Missense_Mutation_p.R34Q|TMC1_ENST00000340019.3_Missense_Mutation_p.R34Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	34	Arg/Asp/Glu/Lys-rich (highly charged).				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						AAGCTACCTCGAAGAGAGAGC	0.448																																					Pancreas(75;173 1345 14232 34245 43413)	.											0													133	121	125					9																	75309495		2202	4300	6502	SO:0001583	missense	117531			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.101G>A	9.37:g.75309495G>A	ENSP00000297784:p.Arg34Gln		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608970	0.87258	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.13420	2.59;2.59;2.59	5.33	5.33	0.75918	.	0.068124	0.56097	D	0.000022	T	0.25121	0.0610	L	0.36672	1.1	0.26515	N	0.974527	D;D	0.58620	0.983;0.983	P;P	0.61201	0.885;0.885	T	0.03025	-1.1081	10	0.40728	T	0.16	-12.3627	15.7578	0.78051	0.0:0.0:1.0:0.0	.	43;34	A4FUA6;Q8TDI8	.;TMC1_HUMAN	Q	34;34;43;43;43;28;34	ENSP00000297784:R34Q;ENSP00000341433:R34Q;ENSP00000379538:R34Q	ENSP00000297784:R34Q	R	+	2	0	TMC1	74499315	0.994000	0.37717	0.976000	0.42696	0.990000	0.78478	4.741000	0.62095	2.484000	0.83849	0.650000	0.86243	CGA		0.448	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			A	75309495	G	A	75309495	3	1	9	1	0	0	0	0	1	0	0	0	15981	1058	37	1	111	1	TMC1	9	75309495	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10		75309495	65903936	28	669											
CRB2	286204	ucsc.edu;bcgsc.ca	37	chr9	126137497	126137497	+	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	agcccccctccctctccaggTgtcaggtccccactctcccc	4	8	6	23	0	3	0	1	0	2	0	7	0	5	0	9	2	1	0	9	2	0	0			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr9:126137497T>C	ENST00000373631.3	+	12	3509	c.3508T>C	c.(3508-3510)Tgt>Cgt	p.C1170R	CRB2_ENST00000373629.2_Splice_Site_p.C838R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1170	EGF-like 14. {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)	p.C1170S(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCTCTCCAGGTGTCAGGTCCC	0.617																																						.											1	Substitution - Missense(1)	lung(1)											60	65	63					9																	126137497		2203	4300	6503	SO:0001630	splice_region_variant	286204			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.3507-1T>C	9.37:g.126137497T>C			A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	21.2	4.106936	0.77096	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.95656	-2.67;-3.77	4.87	4.87	0.63330	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.48286	D	0.000189	D	0.98280	0.9430	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99552	1.0966	10	0.87932	D	0	.	14.6481	0.68774	0.0:0.0:0.0:1.0	.	1170	Q5IJ48	CRUM2_HUMAN	R	1170;838	ENSP00000362734:C1170R;ENSP00000362732:C838R	ENSP00000362732:C838R	C	+	1	0	CRB2	125177318	1.000000	0.71417	0.997000	0.53966	0.218000	0.24690	4.723000	0.61965	2.052000	0.61016	0.459000	0.35465	TGT		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689	Missense_Mutation	C	126137497	T	C	126137497	5	2	9	1	0	0	0	0	0	0	1	0	3849	1710	59	2	3554	2	CRB2	9	126137497	Splice_Site	SNP	T	TCGA-KL-8331-01A-11D-2310-10	50828002	126137497	15075934	29	670											
MLLT10	8028	bcgsc.ca	37	chr10	21884308	21884308	+	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	tattccagaggtacaatttgCcaatgtttccacaatggaac	13	12	7	9	0	0	1	0	0	0	1	2	2	2	2	3	2	3	2	3	2	6	5			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr10:21884308C>T	ENST00000307729.7	+	5	522	c.344C>T	c.(343-345)gCc>gTc	p.A115V	MLLT10_ENST00000377072.3_Missense_Mutation_p.A115V|MLLT10_ENST00000446906.2_Missense_Mutation_p.A115V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A115V|MLLT10_ENST00000495130.1_3'UTR			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	115	Self-association.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTACAATTTGCCAATGTTTCC	0.328			T	"MLL, PICALM, CDK6"	AL																																	.		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0													114	105	108					10																	21884308		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.344C>T	10.37:g.21884308C>T	ENSP00000307411:p.Ala115Val		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939134	0.92526	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000377059	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.1	4.1	0.47936	.	0.147655	0.44688	U	0.000437	T	0.13713	0.0332	L	0.33624	1.015	0.80722	D	1	P;P;P	0.41188	0.741;0.643;0.741	B;B;B	0.39771	0.309;0.187;0.309	T	0.06935	-1.0799	10	0.87932	D	0	.	16.4955	0.84242	0.0:1.0:0.0:0.0	.	115;115;115	E9PBP4;Q5VX90;P55197	.;.;AF10_HUMAN	V	115	ENSP00000366272:A115V;ENSP00000401406:A115V;ENSP00000307411:A115V;ENSP00000366258:A115V	ENSP00000307411:A115V	A	+	2	0	MLLT10	21924314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.647000	0.83462	2.098000	0.63641	0.313000	0.20887	GCC		0.328	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			T	21884308	C	T	21884308	3	4	9	1	0	0	0	0	1	0	0	0	9626	739	26	3	358	3	MLLT10	10	21884308	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10		21884308	113650439	30	671											
CHST3	9469	mdanderson.org	37	chr10	73767859	73767859	+	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	gtccgcggagctggggctgcGgcagcccgcctggctgcggg	2	5	20	14	5	0	0	0	0	0	0	1	1	1	1	3	6	4	4	3	6	0	0	rs3740129	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr10:73767859G>A	ENST00000373115.4	+	3	1507	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	357			R -> Q (in dbSNP:rs3740129). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18513679}.		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						CTGGGGCTGCGGCAGCCCGCC	0.731													G|||	1372	0.273962	0.2474	0.3804	5008	,	,		13396	0.0893		0.4314	False		,,,				2504	0.2628					.											0								G	GLN/ARG	926,2546		181,564,991	5	4	5		1070	1.5	1	10	dbSNP_107	5	2693,3941		661,1371,1285	no	missense	CHST3	NM_004273.4	43	842,1935,2276	AA,AG,GG		40.5939,26.6705,35.8104	benign	357/480	73767859	3619,6487	1736	3317	5053	SO:0001583	missense	9469			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.1070G>A	10.37:g.73767859G>A	ENSP00000362207:p.Arg357Gln		O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	CCDS7312.1	626	0.2866300366300366	130	0.26422764227642276	137	0.3784530386740331	53	0.09265734265734266	306	0.40369393139841686	G	11.05	1.523657	0.27299	0.266705	0.405939	ENSG00000122863	ENST00000373115	D	0.82344	-1.6	5.55	1.52	0.23074	Sulfotransferase domain (1);	0.352881	0.31554	N	0.007455	T	0.00012	0.0000	N	0.11789	0.175	0.80722	P	0.0	B	0.09022	0.002	B	0.12837	0.008	T	0.27806	-1.0063	9	0.17369	T	0.5	-21.3549	8.2168	0.31516	0.403:0.0:0.597:0.0	rs3740129	357	Q7LGC8	CHST3_HUMAN	Q	357	ENSP00000362207:R357Q	ENSP00000362207:R357Q	R	+	2	0	CHST3	73437865	0.005000	0.15991	0.982000	0.44146	0.988000	0.76386	0.338000	0.19858	0.021000	0.15133	-0.258000	0.10820	CGG		0.731	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		A	73767859	G	A	73767859	3	1	9	1	0	0	0	0	1	0	0	0	3405	1116	39	1	1076	1	CHST3	10	73767859	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	51883551	73767859	61766888	31	672											
MARCH5	54708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	94071001	94071001	+	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	ttcaccaggcctgtctacaaCgctgggtggatgaaaagcaa	12	8	11	10	1	2	1	1	1	1	0	2	2	2	2	2	3	3	2	2	3	5	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr10:94071001C>T	ENST00000358935.2	+	2	477	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	49					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CTGTCTACAACGCTGGGTGGA	0.448																																						.											0													88	76	80					10																	94071001		2203	4300	6503	SO:0001583	missense	54708			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.145C>T	10.37:g.94071001C>T	ENSP00000351813:p.Arg49Cys			Missense_Mutation	SNP	ENST00000358935.2	37	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438339	0.83885	.	.	ENSG00000198060	ENST00000358935	T	0.47177	0.85	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83125	-0.0116	10	0.87932	D	0	-0.4	14.182	0.65580	0.1497:0.8503:0.0:0.0	.	49	Q9NX47	MARH5_HUMAN	C	49	ENSP00000351813:R49C	ENSP00000351813:R49C	R	+	1	0	MARCH5	94060981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.540000	0.53611	2.559000	0.86315	0.655000	0.94253	CGC		0.448	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		T	94071001	C	T	94071001	3	4	9	1	0	0	0	0	1	0	0	0	9304	536	19	1	151	1	MARCH5	10	94071001	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	20303142	94071001	41463746	32	673											
DMBT1	1755	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr10	124399735	124399735	+	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	gctaataacaccatccaggtCgaggaagtccagtatggcaa	14	7	10	10	1	0	0	0	0	0	0	3	2	2	1	3	3	1	3	3	3	5	3			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr10:124399735C>T	ENST00000338354.3	+	52	6841	c.6735C>T	c.(6733-6735)gtC>gtT	p.V2245V	DMBT1_ENST00000368955.3_Silent_p.V2235V|DMBT1_ENST00000359586.6_Silent_p.V965V|DMBT1_ENST00000368909.3_Silent_p.V2245V|DMBT1_ENST00000368956.2_Silent_p.V1617V|DMBT1_ENST00000344338.3_Silent_p.V2235V|DMBT1_ENST00000330163.4_Silent_p.V1617V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2245	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCATCCAGGTCGAGGAAGTCC	0.468																																					Ovarian(182;93 2026 18125 22222 38972)	.											0													270	253	259					10																	124399735		2060	4205	6265	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6735C>T	10.37:g.124399735C>T			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																					0.468	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124399735	C	T	124399735	2	4	9	1	0	0	0	0	0	0	0	1	4577	871	31	1		1	DMBT1	10	124399735	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10	30328734	124399735	11135012	33	674											
KCNQ1	3784	ucsc.edu	37	chr11	2797283	2797283	+	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	gcatcaaggagctgcagaggAggtgggcacggccaaacggc	11	3	17	10	2	1	1	1	0	0	1	1	3	1	3	1	6	3	4	1	6	2	0			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr11:2797283A>G	ENST00000155840.5	+	13	1792	c.1684A>G	c.(1684-1686)Agg>Ggg	p.R562G	KCNQ1_ENST00000335475.5_Splice_Site_p.R435G	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	562					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)	GCTGCAGAGGAGGTGGGCACG	0.677																																						.											0			GRCh37	CD044138	KCNQ1	D							59	45	50					11																	2797283		2179	4266	6445	SO:0001630	splice_region_variant	3784			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.1685+1A>G	11.37:g.2797283A>G			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041555	0.75732	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99882	-7.48;-7.48	3.78	3.78	0.43462	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.279693	0.34700	N	0.003753	D	0.99859	0.9934	M	0.86178	2.8	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.96474	0.9351	10	0.87932	D	0	-37.0564	10.783	0.46388	1.0:0.0:0.0:0.0	.	435;435;562	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	G	562;435	ENSP00000155840:R562G;ENSP00000334497:R435G	ENSP00000155840:R562G	R	+	1	2	KCNQ1	2753859	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	2.557000	0.45871	1.720000	0.51447	0.459000	0.35465	AGG		0.677	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218	Missense_Mutation	G	2797283	A	G	2797283	5	3	9	1	0	0	0	0	0	0	1	0	8082	318	11	2	1743	2	KCNQ1	11	2797283	Splice_Site	SNP	A	TCGA-KL-8331-01A-11D-2310-10		2797283	132209233	34	675											
CDC42BPG	55561	ucsc.edu	37	chr11	64601933	64601933	+	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	agctgggcctcctgcacctgTgtcagccgctcctgcaggcc	4	8	12	17	1	1	0	1	0	0	0	3	0	3	0	6	2	4	4	6	2	0	0	rs7933683	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr11:64601933T>C	ENST00000342711.5	-	19	2291	c.2292A>G	c.(2290-2292)acA>acG	p.T764T	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCTGCACCTGTGTCAGCCGCT	0.706													C|||	1376	0.27476	0.0424	0.2147	5008	,	,		15170	0.4921		0.2575	False		,,,				2504	0.4254					.											0								C		284,3850		12,260,1795	6	7	6		2292	-6.1	0.8	11	dbSNP_116	6	1681,6531		171,1339,2596	no	coding-synonymous	CDC42BPG	NM_017525.2		183,1599,4391	CC,CT,TT		20.47,6.8699,15.9161		764/1552	64601933	1965,10381	2067	4106	6173	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2292A>G	11.37:g.64601933T>C				Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																				0.706	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		C	64601933	T	C	64601933	2	2	9	1	0	0	0	0	0	0	0	1	3074	1683	59	2		2	CDC42BPG	11	64601933	Silent	SNP	T	TCGA-KL-8331-01A-11D-2310-10	61804650	64601933	70404583	35	676											
SLC6A13	6540	ucsc.edu	37	chr12	332318	332318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaaacccaagccacacagAgggactcgaagatggccacg	14	3	11	13	3	0	2	0	0	0	2	1	4	0	3	3	2	2	1	3	2	4	1			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:332318A>G	ENST00000343164.4	-	12	1446	c.1394T>C	c.(1393-1395)cTc>cCc	p.L465P	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.L373P	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	465					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)			AGCCACACAGAGGGACTCGAA	0.547																																						.											0													151	118	129					12																	332318		2203	4300	6503	SO:0001583	missense	6540			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.1394T>C	12.37:g.332318A>G	ENSP00000339260:p.Leu465Pro		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471544	0.84533	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.77229	-1.08;-1.08	4.8	4.8	0.61643	.	0.646127	0.16228	N	0.223738	D	0.87402	0.6168	M	0.76433	2.335	0.80722	D	1	P;P;P	0.52463	0.779;0.953;0.953	P;D;D	0.70487	0.718;0.969;0.924	D	0.88156	0.2854	10	0.87932	D	0	.	14.3492	0.66688	1.0:0.0:0.0:0.0	.	373;444;465	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	P	373;444;465	ENSP00000407104:L373P;ENSP00000339260:L465P	ENSP00000318097:L444P	L	-	2	0	SLC6A13	202579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.519000	0.81809	1.796000	0.52611	0.459000	0.35465	CTC		0.547	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		G	332318	A	G	332318	3	3	9	1	0	0	0	0	1	0	0	0	14676	304	11	2	430	2	SLC6A13	12	332318	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10		332318	133519577	36	677											
AICDA	57379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	8759502	8759502	+	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	gtccagtgaaaaggatgtagCactgtcacgcctcttcacta	11	10	9	11	1	3	1	2	1	1	0	4	2	4	2	2	1	1	2	2	1	4	3			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:8759502C>T	ENST00000229335.6	-	2	218	c.115G>A	c.(115-117)Gct>Act	p.A39T	AICDA_ENST00000537228.1_Missense_Mutation_p.A39T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	39	Important for interaction with CTNNBL1.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AAGGATGTAGCACTGTCACGC	0.453																																					GBM(62;896 1067 5527 26594 30137)	.											0													92	89	90					12																	8759502		1990	4153	6143	SO:0001583	missense	57379			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.115G>A	12.37:g.8759502C>T	ENSP00000229335:p.Ala39Thr		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764473	0.49574	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.65549	-0.16;-0.16	5.36	4.46	0.54185	APOBEC-like, N-terminal (1);	0.155473	0.64402	D	0.000017	T	0.47764	0.1463	N	0.19112	0.55	0.41782	D	0.989827	P;B;P	0.39352	0.454;0.042;0.669	B;B;B	0.41374	0.192;0.089;0.355	T	0.46386	-0.9195	10	0.38643	T	0.18	-18.6958	9.9657	0.41723	0.1563:0.6929:0.1508:0.0	.	39;39;39	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	T	39	ENSP00000229335:A39T;ENSP00000445691:A39T	ENSP00000229335:A39T	A	-	1	0	AICDA	8650769	1.000000	0.71417	0.991000	0.47740	0.872000	0.50106	3.930000	0.56522	1.239000	0.43787	0.467000	0.42956	GCT		0.453	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		T	8759502	C	T	8759502	3	4	9	1	0	0	0	0	1	0	0	0	422	710	25	4	497	4	AICDA	12	8759502	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	8427184	8759502	125092393	37	678											
TAS2R31	259290	bcgsc.ca	37	chr12	11183042	11183042	+	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	tctctcctttcacccagtacCtcacttgccgcaaaactgaa	10	11	4	16	1	3	1	2	1	1	0	5	1	4	1	4	0	3	2	4	0	4	3	rs3759246	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:11183042C>G	ENST00000390675.2	-	1	964	c.893G>C	c.(892-894)aGg>aCg	p.R298T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	298					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)|lung(6)	7						CACCCAGTACCTCACTTGCCG	0.418																																						.											0													200	202	201					12																	11183042		1968	4187	6155	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.893G>C	12.37:g.11183042C>G	ENSP00000375093:p.Arg298Thr		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323373	0.24080	.	.	ENSG00000256436	ENST00000390675	T	0.38077	1.16	2.61	-0.464	0.12160	.	.	.	.	.	T	0.32285	0.0824	L	0.33792	1.035	0.09310	N	1	P	0.40681	0.727	P	0.49085	0.6	T	0.23440	-1.0188	9	0.44086	T	0.13	.	5.1028	0.14768	0.0:0.5087:0.0:0.4913	rs3759246	298	P59538	T2R31_HUMAN	T	298	ENSP00000375093:R298T	ENSP00000375093:R298T	R	-	2	0	TAS2R31	11074309	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-2.166000	0.01273	-0.264000	0.09365	0.184000	0.17185	AGG		0.418	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		G	11183042	C	G	11183042	3	3	9	1	0	0	0	0	1	0	0	0	15571	681	24	5	40	5	TAS2R31	12	11183042	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	2423540	11183042	122668853	38	679											
TAS2R43	259289	mdanderson.org	37	chr12	11244369	11244369	+	Missense_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	tccttcaaattcttttgtccGcacaatctcattcatgttta	9	18	3	11	1	4	0	3	0	2	0	7	0	6	0	2	0	0	2	2	0	3	7	rs200586631	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:11244369G>A	ENST00000531678.1	-	1	543	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	154					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)		TCTTTTGTCCGCACAATCTCA	0.368													.|||	2	0.000399361	0.0015	0	5008	,	,		14006	0		0	False		,,,				2504	0					.											0													76	68	71					12																	11244369		1796	3334	5130	SO:0001583	missense	259289			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.460C>T	12.37:g.11244369G>A	ENSP00000431719:p.Arg154Trp		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.315340	0.00235	.	.	ENSG00000255374	ENST00000531678	T	0.37584	1.19	2.01	1.05	0.20165	.	.	.	.	.	T	0.09069	0.0224	N	0.01009	-1.055	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35500	-0.9786	9	0.02654	T	1	.	4.5717	0.12214	0.2129:0.0:0.7871:0.0	.	154	P59537	T2R43_HUMAN	W	154	ENSP00000431719:R154W	ENSP00000431719:R154W	R	-	1	2	TAS2R43	11135636	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.836000	0.04382	0.165000	0.19558	0.195000	0.17529	CGG		0.368	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244369	G	A	11244369	3	1	9	1	0	0	0	0	1	0	0	0	15578	1086	38	1	473	1	TAS2R43	12	11244369	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	61327	11244369	122607526	39	680											
TAS2R30	259293	broad.mit.edu	37	chr12	11286136	11286137	+	Frame_Shift_Ins	INS	-	-	A																															gaaagtaaatggcacataacINSagaagaaaggaggtcacagt																										TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:11286136_11286137insA	ENST00000539585.1	-	1	1106_1107	c.707_708insT	c.(706-708)ctgfs	p.L236fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	236					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						TGGCACATAACAGAAGAAAGGA	0.411																																						.											0																																										SO:0001589	frameshift_variant	259293			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.708dupT	12.37:g.11286137_11286137dupA	ENSP00000444736:p.Leu236fs		Q645X7	Frame_Shift_Ins	INS	ENST00000539585.1	37	CCDS53750.1																																																																																				0.411	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		A	11286137	-	A	11286136	7	5	9	1	0	1	1	0	0	0	0	0	15570	465	17	0	255	0	TAS2R30	12	11286136	Frame_Shift_Ins	INS	-	TCGA-KL-8331-01A-11D-2310-10	41767	11286136	122565759	40	681											
SOAT2	8435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	53517645	53517645	+	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	tggtacgcacggcggcactgCcccttaccccaggtaagaga	9	6	12	14	3	0	1	0	0	0	1	0	2	0	1	4	4	3	4	4	4	3	3			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr12:53517645C>T	ENST00000301466.3	+	14	1566	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	502					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)	GGCGGCACTGCCCCTTACCCC	0.612																																						.											0													98	79	85					12																	53517645		2203	4300	6503	SO:0001819	synonymous_variant	8435			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.1506C>T	12.37:g.53517645C>T			F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	CCDS8847.1																																																																																				0.612	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			T	53517645	C	T	53517645	2	4	9	1	0	0	0	0	0	0	0	1	14911	747	26	3		3	SOAT2	12	53517645	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10	42231509	53517645	80334250	41	682											
ATP8A2	51761	bcgsc.ca	37	chr13	26133897	26133897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagagccgtcttcagatgActtctggtaagtagattcta	12	12	10	7	1	4	4	1	1	3	3	4	5	4	4	1	1	1	2	1	1	4	6			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr13:26133897A>G	ENST00000381655.2	+	15	1533	c.1391A>G	c.(1390-1392)gAc>gGc	p.D464G	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D424G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	424					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)		TCTTCAGATGACTTCTGGTAA	0.373																																						.											0													109	101	103					13																	26133897		1813	4076	5889	SO:0001583	missense	51761			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.1391A>G	13.37:g.26133897A>G	ENSP00000371070:p.Asp464Gly		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	a	15.21	2.765965	0.49574	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.67345	-0.26;-0.26	5.03	5.03	0.67393	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.113760	0.64402	D	0.000015	T	0.66015	0.2747	L	0.42632	1.34	0.58432	D	0.999999	B;P;B	0.48503	0.126;0.911;0.126	B;P;B	0.48227	0.096;0.571;0.138	T	0.68051	-0.5511	10	0.48119	T	0.1	.	14.4278	0.67227	1.0:0.0:0.0:0.0	.	424;424;424	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	G	464;424;244	ENSP00000371070:D464G;ENSP00000255283:D424G	ENSP00000255283:D424G	D	+	2	0	ATP8A2	25031897	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.997000	0.76270	1.883000	0.54544	0.363000	0.22086	GAC		0.373	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		G	26133897	A	G	26133897	3	3	9	1	0	0	0	0	1	0	0	0	1193	275	10	2	1449	2	ATP8A2	13	26133897	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10		26133897	89035981	42	683											
PAN3	255967	hgsc.bcm.edu;ucsc.edu	37	chr13	28840991	28840991	+	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	aacagcaaagatgatctgccAtattgccttcggaggataca	14	9	9	9	1	1	2	0	1	1	1	2	4	1	4	2	2	5	1	2	2	4	4			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr13:28840991A>G	ENST00000380958.3	+	10	1703	c.1551A>G	c.(1549-1551)ccA>ccG	p.P517P	PAN3_ENST00000399613.1_Silent_p.P317P|PAN3_ENST00000282391.5_Silent_p.P205P	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ATGATCTGCCATATTGCCTTC	0.353																																						.											0													64	60	62					13																	28840991		2203	4300	6503	SO:0001819	synonymous_variant	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1551A>G	13.37:g.28840991A>G				Silent	SNP	ENST00000380958.3	37	CCDS9329.2																																																																																				0.353	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		G	28840991	A	G	28840991	2	3	9	1	0	0	0	0	0	0	0	1	11415	204	8	4		4	PAN3	13	28840991	Silent	SNP	A	TCGA-KL-8331-01A-11D-2310-10	2707094	28840991	86328887	43	684											
EAPP	55837	bcgsc.ca	37	chr14	34998579	34998579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccccttctctgtgcaTcaacccaggcctgatctctg	6	12	6	17	0	3	1	1	1	2	0	5	1	3	1	4	1	3	1	4	1	2	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr14:34998579T>C	ENST00000250454.3	-	4	536	c.455A>G	c.(454-456)gAt>gGt	p.D152G		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	152					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TCTCTGTGCATCAACCCAGGC	0.318																																						.											0													156	138	143					14																	34998579		1824	4080	5904	SO:0001583	missense	55837			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.455A>G	14.37:g.34998579T>C	ENSP00000250454:p.Asp152Gly		Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336998	0.81801	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.45276	0.9;0.9	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74982	-0.3478	10	0.59425	D	0.04	-21.4515	15.7004	0.77538	0.0:0.0:0.0:1.0	.	152	Q56P03	EAPP_HUMAN	G	152;131	ENSP00000250454:D152G;ENSP00000450908:D131G	ENSP00000250454:D152G	D	-	2	0	EAPP	34068330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.040000	0.76551	2.183000	0.69458	0.477000	0.44152	GAT		0.318	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		C	34998579	T	C	34998579	3	2	9	1	0	0	0	0	1	0	0	0	4877	1435	50	4	414	4	EAPP	14	34998579	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10		34998579	72350961	44	685											
PSMC6	5706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	53175080	53175080	+	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	atgaaaagtctgaaaatgatCtgaaggccctacagagtgtt	15	10	10	6	0	2	5	0	4	2	1	2	5	2	5	1	1	1	1	1	1	6	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr14:53175080C>G	ENST00000606149.1	+	2	155	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	PSMC6_ENST00000445930.2_Missense_Mutation_p.L61V	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	47					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)|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)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TGAAAATGATCTGAAGGCCCT	0.353																																						.											0													121	120	120					14																	53175080		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.139C>G	14.37:g.53175080C>G	ENSP00000475721:p.Leu47Val		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.78|15.78	2.934302|2.934302	0.52866|0.52866	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000556813	D|.	0.94092|.	-3.35|.	5.17|5.17	2.33|2.33	0.28932|0.28932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53802|0.53802	0.1819|0.1819	L|L	0.41906|0.41906	1.305|1.305	0.80722|0.80722	D|D	1|1	B|.	0.17852|.	0.024|.	B|.	0.22386|.	0.039|.	T|T	0.41431|0.41431	-0.9509|-0.9509	10|5	0.56958|.	D|.	0.05|.	.|.	10.8766|10.8766	0.46915|0.46915	0.0:0.791:0.0:0.209|0.0:0.791:0.0:0.209	.|.	47|.	P62333|.	PRS10_HUMAN|.	V|C	61|46	ENSP00000401802:L61V|.	ENSP00000401802:L61V|.	L|S	+|+	1|2	2|0	PSMC6|PSMC6	52244830|52244830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	3.033000|3.033000	0.49743|0.49743	0.276000|0.276000	0.22118|0.22118	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.353	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		G	53175080	C	G	53175080	3	3	9	1	0	0	0	0	1	0	0	0	12691	912	32	5	187	5	PSMC6	14	53175080	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	18176501	53175080	54174460	45	686											
EIF2AK4	440275	ucsc.edu	37	chr15	40268998	40268998	+	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	ccgggctccagcgatgacgaGgacgacgacgaggacgagca	11	2	16	12	7	0	1	0	1	0	0	1	9	1	3	2	3	2	2	2	3	0	0	rs200699205|rs377237751	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr15:40268998G>C	ENST00000263791.5	+	12	2245	c.2202G>C	c.(2200-2202)gaG>gaC	p.E734D	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E734D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	734	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)		GCGATGACGAGGACGACGACG	0.682																																						.											0													48	51	50					15																	40268998		1792	3898	5690	SO:0001583	missense	440275			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.2202G>C	15.37:g.40268998G>C	ENSP00000263791:p.Glu734Asp		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	5.494	0.276174	0.10403	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.70749	-0.51;-0.41	5.34	1.05	0.20165	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232344	0.43579	D	0.000550	T	0.38772	0.1053	N	0.11201	0.11	0.43330	D	0.995364	B	0.02656	0.0	B	0.01281	0.0	T	0.31668	-0.9935	10	0.02654	T	1	-11.3049	3.9743	0.09467	0.0737:0.2643:0.3683:0.2937	.	734	Q9P2K8	E2AK4_HUMAN	D	734	ENSP00000263791:E734D;ENSP00000372174:E734D	ENSP00000263791:E734D	E	+	3	2	EIF2AK4	38056290	0.212000	0.23540	0.997000	0.53966	0.175000	0.22909	-0.226000	0.09139	0.323000	0.23307	-0.196000	0.12772	GAG		0.682	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			C	40268998	G	C	40268998	3	2	9	1	0	0	0	0	1	0	0	0	4999	991	35	5	2248	5	EIF2AK4	15	40268998	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10		40268998	62262394	46	687											
MEF2A	4205	mdanderson.org	37	chr15	100252741	100252741	+	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	gcagcagcagcagcagcagcAgccgccgccaccaccgcagc	10	0	12	19	3	0	0	0	0	0	0	0	0	0	0	5	0	8	8	5	0	0	0	rs560400205|rs199811207	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr15:100252741A>C	ENST00000557785.1	+	11	1608	c.1259A>C	c.(1258-1260)cAg>cCg	p.Q420P	MEF2A_ENST00000354410.5_Missense_Mutation_p.Q422P|MEF2A_ENST00000338042.6_Missense_Mutation_p.Q429P|MEF2A_ENST00000449277.2_Missense_Mutation_p.Q352P|MEF2A_ENST00000557942.1_Missense_Mutation_p.Q428P|MEF2A_ENST00000558812.1_Missense_Mutation_p.Q360P|MEF2A_ENST00000453228.2_Missense_Mutation_p.Q420P	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	430	Gln/Pro-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)			cagcagcagcagcCGCCGCCA	0.637																																						.											0													4	8	7					15																	100252741		1603	3215	4818	SO:0001583	missense	4205				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.1259A>C	15.37:g.100252741A>C	ENSP00000453441:p.Gln420Pro		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.206880	0.00292	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.36340	2.91;2.91;2.91;1.26	3.68	-5.59	0.02505	.	.	.	.	.	T	0.14098	0.0341	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.29119	-1.0022	9	0.27785	T	0.31	.	15.1199	0.72434	0.7463:0.2537:0.0:0.0	.	430;360;341;420;422;428	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	P	420;422;429;360	ENSP00000404110:Q420P;ENSP00000346389:Q422P;ENSP00000337202:Q429P;ENSP00000399460:Q360P	ENSP00000337202:Q429P	Q	+	2	0	MEF2A	98070264	0.968000	0.33430	0.000000	0.03702	0.025000	0.11179	-0.272000	0.08560	-1.152000	0.02832	-2.562000	0.00173	CAG		0.637	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			C	100252741	A	C	100252741	3	2	9	1	0	0	0	0	1	0	0	0	9455	188	7	5	1463	5	MEF2A	15	100252741	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10	59983743	100252741	2278651	47	688											
TNRC6A	27327	broad.mit.edu	37	chr16	24817998	24817998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctcagcagcagccacTccatcagccagccatgaagt	12	6	7	16	0	2	1	2	1	1	0	4	1	3	1	5	0	5	2	5	0	1	0			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr16:24817998T>C	ENST00000395799.3	+	17	4562	c.4433T>C	c.(4432-4434)cTc>cCc	p.L1478P	TNRC6A_ENST00000315183.7_Missense_Mutation_p.L1429P|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_5'Flank	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1478					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)		CAGCAGCCACTCCATCAGCCA	0.493																																						.											0													133	113	120					16																	24817998		2197	4300	6497	SO:0001583	missense	27327			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.4433T>C	16.37:g.24817998T>C	ENSP00000379144:p.Leu1478Pro		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810610	0.70797	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.14022	2.57;2.54	6.06	6.06	0.98353	.	0.162970	0.43579	D	0.000553	T	0.35799	0.0944	M	0.68317	2.08	0.80722	D	1	B;D;B;D	0.89917	0.012;1.0;0.009;1.0	B;D;B;D	0.74023	0.016;0.982;0.02;0.963	T	0.01982	-1.1235	10	0.32370	T	0.25	-3.8091	16.6154	0.84909	0.0:0.0:0.0:1.0	.	145;617;1429;1478	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.;.;.;TNR6A_HUMAN	P	1429;1478	ENSP00000326900:L1429P;ENSP00000379144:L1478P	ENSP00000326900:L1429P	L	+	2	0	TNRC6A	24725499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.239000	0.43079	2.315000	0.78130	0.533000	0.62120	CTC		0.493	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		C	24817998	T	C	24817998	3	2	9	1	0	0	0	0	1	0	0	0	16337	1551	54	2	4499	2	TNRC6A	16	24817998	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10		24817998	65536755	48	689											
SETD1A	9739	hgsc.bcm.edu;ucsc.edu	37	chr16	30991933	30991933	+	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	gagaaggacaagtacctggaCgtgtgcccagtctcggcccg	9	6	14	12	3	1	1	0	0	1	1	2	4	1	3	3	3	2	1	3	3	3	1	rs56788559	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr16:30991933C>T	ENST00000262519.8	+	15	5222	c.4536C>T	c.(4534-4536)gaC>gaT	p.D1512D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1512	Interaction with ASH2L, RBBP5 and WDR5.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGTACCTGGACGTGTGCCCAG	0.682													C|||	85	0.0169728	0.0582	0.0101	5008	,	,		12515	0		0.001	False		,,,				2504	0					.											0								C		209,4185	127.0+/-164.0	6,197,1994	68	54	59		4536	-1.8	1	16	dbSNP_129	59	13,8587	8.4+/-32.0	0,13,4287	no	coding-synonymous	SETD1A	NM_014712.1		6,210,6281	TT,TC,CC		0.1512,4.7565,1.7085		1512/1708	30991933	222,12772	2197	4300	6497	SO:0001819	synonymous_variant	9739			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.4536C>T	16.37:g.30991933C>T			A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																				0.682	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		T	30991933	C	T	30991933	2	4	9	1	0	0	0	0	0	0	0	1	14130	535	19	1		1	SETD1A	16	30991933	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10	6173935	30991933	59362820	49	690											
NOB1	28987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	69786144	69786144	+	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	aacccatcctcttgatttacCttctgtggttcttgttttag	6	19	6	10	0	3	1	0	1	3	0	4	1	4	1	3	1	2	2	3	1	3	8			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr16:69786144C>T	ENST00000268802.5	-	3	356	c.327G>A	c.(325-327)aaG>aaA	p.K109K		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	109					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTTGATTTACCTTCTGTGGTT	0.453																																						.											0													167	160	162					16																	69786144		2198	4300	6498	SO:0001630	splice_region_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.327+1G>A	16.37:g.69786144C>T			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	ENST00000268802.5	37	CCDS10884.1																																																																																				0.453	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062	Silent	T	69786144	C	T	69786144	5	4	9	1	0	0	0	0	0	0	1	0	10511	695	24	4	939	4	NOB1	16	69786144	Splice_Site	SNP	C	TCGA-KL-8331-01A-11D-2310-10	38794211	69786144	20568609	50	691											
CPNE7	27132	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr16	89650494	89650494	+	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	ggagctctccttccgggccaGgaagctggacgacaaggtga	9	6	15	11	2	1	1	0	1	1	0	3	5	2	4	3	5	2	2	3	5	2	1			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr16:89650494G>A	ENST00000268720.5	+	6	846	c.716G>A	c.(715-717)aGg>aAg	p.R239K	CPNE7_ENST00000319518.8_Missense_Mutation_p.R164K	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	239	C2 2. {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)		TTCCGGGCCAGGAAGCTGGAC	0.687																																						.											0													57	54	55					16																	89650494		2197	4300	6497	SO:0001583	missense	27132			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.716G>A	16.37:g.89650494G>A	ENSP00000268720:p.Arg239Lys			Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332841	0.41297	.	.	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.67345	-0.26;-0.26	3.85	-4.18	0.03846	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.886047	0.09884	N	0.743348	T	0.43144	0.1234	N	0.21508	0.67	0.30051	N	0.811796	B;B	0.14805	0.001;0.011	B;B	0.17979	0.003;0.02	T	0.29397	-1.0013	10	0.45353	T	0.12	2.4518	2.2349	0.04005	0.5547:0.1444:0.1562:0.1447	.	164;239	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	K	164;239	ENSP00000317374:R164K;ENSP00000268720:R239K	ENSP00000268720:R239K	R	+	2	0	CPNE7	88177995	1.000000	0.71417	0.974000	0.42286	0.882000	0.50991	1.392000	0.34486	-0.429000	0.07329	0.491000	0.48974	AGG		0.687	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89650494	G	A	89650494	3	1	9	1	0	0	0	0	1	0	0	0	3817	1000	35	4	738	4	CPNE7	16	89650494	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	19864350	89650494	704259	51	692											
TRIM16	10626	ucsc.edu	37	chr17	15539560	15539560	+	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	ccaaactgcatttcagccacCgctttgacctctgacaccga	10	9	6	16	2	2	2	1	2	1	0	2	3	2	2	5	0	3	2	5	0	1	2	rs9911397	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr17:15539560C>T	ENST00000578237.1	-	8	1494	c.639G>A	c.(637-639)gcG>gcA	p.A213A	TRIM16_ENST00000416464.2_Silent_p.A83A|TRIM16_ENST00000581224.1_5'UTR|TRIM16_ENST00000579219.1_5'UTR|RP11-385D13.1_ENST00000455584.2_Silent_p.A213A|TRIM16_ENST00000577886.1_5'UTR|TRIM16_ENST00000336708.7_Silent_p.A213A			O95361	TRI16_HUMAN	tripartite motif containing 16	213					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)		TTTCAGCCACCGCTTTGACCT	0.542													T|||	103	0.0205671	0.056	0.0058	5008	,	,		18784	0.0159		0	False		,,,				2504	0.0092					.											0								T		128,4238		10,108,2065	88	87	87		639	-2.5	0	17	dbSNP_119	87	7,8585		0,7,4289	no	coding-synonymous	TRIM16	NM_006470.3		10,115,6354	TT,TC,CC		0.0815,2.9317,1.0418		213/565	15539560	135,12823	2183	4296	6479	SO:0001819	synonymous_variant	10626			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.639G>A	17.37:g.15539560C>T			Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	CCDS11171.1	75	0.034340659340659344	26	0.052845528455284556	2	0.0055248618784530384	17	0.02972027972027972	30	0.0395778364116095	N	2.714	-0.268218	0.05716	0.029317	8.15E-4	ENSG00000251537	ENST00000455584	.	.	.	3.97	-2.49	0.06403	.	.	.	.	.	T	0.05318	0.0141	.	.	.	0.29227	P	0.8735310000000001	.	.	.	.	.	.	T	0.29761	-1.0001	3	.	.	.	.	5.9626	0.19308	0.1152:0.4782:0.3216:0.0851	rs9911397	.	.	.	Q	228	.	.	R	-	2	0	RP11-385D13.1	15480285	0.014000	0.17966	0.006000	0.13384	0.385000	0.30292	0.258000	0.18387	-0.436000	0.07254	-1.246000	0.01523	CGG		0.542	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		T	15539560	C	T	15539560	2	4	9	1	0	0	0	0	0	0	0	1	16488	639	23	1		1	TRIM16	17	15539560	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10		15539560	65655650	52	693											
AKAP10	11216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	19823386	19823386	+	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	tcaggttcaggctcagattcTcggatgaattgccccaagtc	9	11	10	11	1	4	2	3	1	1	1	6	3	4	3	2	3	1	2	2	3	2	3	rs1049591		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr17:19823386T>C	ENST00000225737.6	-	12	1954	c.1797A>G	c.(1795-1797)cgA>cgG	p.R599R	AKAP10_ENST00000395536.3_Silent_p.R541R	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	599					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					GCTCAGATTCTCGGATGAATT	0.348																																						.											0													119	110	113					17																	19823386		2203	4300	6503	SO:0001819	synonymous_variant	11216			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1797A>G	17.37:g.19823386T>C			B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	CCDS11214.1																																																																																				0.348	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		C	19823386	T	C	19823386	2	2	9	1	0	0	0	0	0	0	0	1	446	1538	54	2		2	AKAP10	17	19823386	Silent	SNP	T	TCGA-KL-8331-01A-11D-2310-10	4283826	19823386	61371824	53	694											
TRIM37	4591	ucsc.edu;bcgsc.ca	37	chr17	57153067	57153067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttgggttagagatgTcttctgacctgatgaaaaat	10	16	10	5	0	3	4	0	3	3	1	3	5	3	4	1	1	0	2	1	1	3	4			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr17:57153067T>C	ENST00000262294.7	-	8	884	c.625A>G	c.(625-627)Aca>Gca	p.T209A	TRIM37_ENST00000393066.3_Missense_Mutation_p.T209A|TRIM37_ENST00000393065.2_Missense_Mutation_p.T175A|TRIM37_ENST00000376149.3_Missense_Mutation_p.T87A	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	209					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)					GTTAGAGATGTCTTCTGACCT	0.323									Mulibrey Nanism																													.											0													93	88	90					17																	57153067		2203	4300	6503	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	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.625A>G	17.37:g.57153067T>C	ENSP00000262294:p.Thr209Ala		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832688	0.50845	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.64438	1.67;1.67;-0.1;1.25	5.4	5.4	0.78164	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	N	0.19112	0.55	0.58432	D	0.999991	B;D;B	0.71674	0.175;0.998;0.011	B;D;B	0.63283	0.088;0.913;0.024	T	0.62581	-0.6824	10	0.30078	T	0.28	-0.6	14.5977	0.68419	0.0:0.0:0.0:1.0	.	175;87;209	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	A	209;209;87;175	ENSP00000376785:T209A;ENSP00000262294:T209A;ENSP00000365319:T87A;ENSP00000376784:T175A	ENSP00000262294:T209A	T	-	1	0	TRIM37	54507849	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.847000	0.86896	2.043000	0.60533	0.477000	0.44152	ACA		0.323	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		C	57153067	T	C	57153067	3	2	9	1	0	0	0	0	1	0	0	0	16508	1667	58	2	2345	2	TRIM37	17	57153067	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10	37329681	57153067	24042143	54	695											
PTPRM	5797	ucsc.edu	37	chr18	8376084	8376084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatcagacagtttcactTcactggctggccggatcatg	10	10	11	10	1	4	2	4	0	0	2	4	4	4	3	1	3	0	2	1	3	0	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr18:8376084T>C	ENST00000332175.8	+	23	4210	c.3173T>C	c.(3172-3174)tTc>tCc	p.F1058S	PTPRM_ENST00000580170.1_Missense_Mutation_p.F1071S|PTPRM_ENST00000400053.4_Missense_Mutation_p.F996S|PTPRM_ENST00000444013.1_Missense_Mutation_p.F845S|PTPRM_ENST00000400060.4_Missense_Mutation_p.F1072S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1058	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)				CAGTTTCACTTCACTGGCTGG	0.547																																						.											0													85	83	84					18																	8376084		2203	4300	6503	SO:0001583	missense	5797			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.3173T>C	18.37:g.8376084T>C	ENSP00000331418:p.Phe1058Ser		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	34	5.315556	0.95655	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	6.04	6.04	0.98038	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.094058	0.85682	D	0.000000	T	0.70753	0.3260	M	0.93150	3.385	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	0.79200	-0.1901	10	0.87932	D	0	.	16.6349	0.85050	0.0:0.0:0.0:1.0	.	845;1071;1058	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	S	1058;1072;996;845	ENSP00000331418:F1058S;ENSP00000382933:F1072S;ENSP00000382927:F996S;ENSP00000387608:F845S	ENSP00000331418:F1058S	F	+	2	0	PTPRM	8366084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.330000	0.79161	0.477000	0.44152	TTC		0.547	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			C	8376084	T	C	8376084	3	2	9	1	0	0	0	0	1	0	0	0	12806	1783	62	4	3310	4	PTPRM	18	8376084	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10		8376084	69701164	55	696											
MAPK4	5596	ucsc.edu	37	chr18	48248403	48248403	+	Missense_Mutation	SNP	T	T	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	tgctcagggtgatgccttccTttgtcagcagcacctgggag	6	11	13	11	0	2	1	2	1	0	0	3	2	3	2	3	2	4	3	3	2	0	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr18:48248403T>C	ENST00000400384.2	+	4	1823	c.787T>C	c.(787-789)Ttt>Ctt	p.F263L	MAPK4_ENST00000540640.1_Missense_Mutation_p.F52L|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GATGCCTTCCTTTGTCAGCAG	0.597																																						.											0													73	82	79					18																	48248403		2074	4217	6291	SO:0001583	missense	5596			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.787T>C	18.37:g.48248403T>C	ENSP00000383234:p.Phe263Leu		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953295	0.53293	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.40756	1.02;1.02	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.31040	0.0784	L	0.35542	1.07	0.80722	D	1	B	0.15719	0.014	B	0.21360	0.034	T	0.10086	-1.0645	10	0.08381	T	0.77	-8.0962	14.108	0.65104	0.0:0.0:0.0:1.0	.	263	P31152	MK04_HUMAN	L	263;52	ENSP00000383234:F263L;ENSP00000439231:F52L	ENSP00000383234:F263L	F	+	1	0	MAPK4	46502401	1.000000	0.71417	0.692000	0.30179	0.993000	0.82548	5.037000	0.64170	1.982000	0.57802	0.459000	0.35465	TTT		0.597	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		C	48248403	T	C	48248403	3	2	9	1	0	0	0	0	1	0	0	0	9280	1609	56	2	797	2	MAPK4	18	48248403	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10	39872319	48248403	29828845	56	697											
ZNF676	163223	mdanderson.org	37	chr19	22363631	22363631	+	Silent	SNP	G	G	A																															tgaattctcttatgttccatGagctttgaggacgagttgga																								rs75683199	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:22363631G>A	ENST00000397121.2	-	3	1205	c.888C>T	c.(886-888)ctC>ctT	p.L296L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	296					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)				TATGTTCCATGAGCTTTGAGG	0.438																																						.											0													96	100	98					19																	22363631		2141	4270	6411	SO:0001819	synonymous_variant	163223			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.888C>T	19.37:g.22363631G>A			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	22363631	G	A	22363631	2	1	9	1	0	0	0	0	0	0	0	1	18080	1277	45	4		4	ZNF676	19	22363631	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10		22363631	36765352	57	698	19	2									
ZNF676	163223	mdanderson.org	37	chr19	22363634	22363634	+	Missense_Mutation	SNP	C	C	A																															attctcttatgttccatgagCtttgaggacgagttggaagc																								rs76456473	byFrequency	TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:22363634C>A	ENST00000397121.2	-	3	1202	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)				GTTCCATGAGCTTTGAGGACG	0.433																																						.											0													98	102	100					19																	22363634		2149	4273	6422	SO:0001583	missense	163223			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.885G>T	19.37:g.22363634C>A	ENSP00000380310:p.Lys295Asn		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.874663	0.00003	.	.	ENSG00000196109	ENST00000397121	T	0.07908	3.15	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	N	0.02775	-0.495	0.09310	N	1	P	0.40731	0.728	B	0.37833	0.259	T	0.20940	-1.0260	9	0.08381	T	0.77	.	0.8725	0.01217	0.1932:0.2181:0.3753:0.2135	.	295	Q8N7Q3	ZN676_HUMAN	N	295	ENSP00000380310:K295N	ENSP00000380310:K295N	K	-	3	2	ZNF676	22155474	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.885000	0.01620	-1.157000	0.02815	-1.151000	0.01829	AAG		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22363634	C	A	22363634	3	1	9	1	0	0	0	0	1	0	0	0	18080	796	28	5	885	5	ZNF676	19	22363634	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	3	22363634	36765349	58	699	19	2									
IRGQ	126298	ucsc.edu	37	chr19	44099393	44099393	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggggcctcgagcgtcTccacatccttgtcgcacagc	5	8	11	17	4	1	0	0	0	1	0	6	1	2	0	4	2	2	1	4	2	0	1			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:44099393T>C	ENST00000602269.1	-	1	283	c.98A>G	c.(97-99)gAg>gGg	p.E33G	SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.E33G|ZNF576_ENST00000529930.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	33										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CTCGAGCGTCTCCACATCCTT	0.701																																						.											0													21	21	21					19																	44099393		2150	4193	6343	SO:0001583	missense	126298			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.98A>G	19.37:g.44099393T>C	ENSP00000472250:p.Glu33Gly		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041069	0.55003	.	.	ENSG00000167378	ENST00000422989	T	0.53857	0.6	4.0	4.0	0.46444	.	0.317825	0.23060	N	0.052388	T	0.34919	0.0914	N	0.24115	0.695	0.26975	N	0.965488	P	0.40731	0.728	B	0.36186	0.219	T	0.28459	-1.0043	10	0.52906	T	0.07	-6.2115	9.4967	0.38993	0.0:0.0:0.0:1.0	.	33	Q8WZA9	IRGQ_HUMAN	G	33	ENSP00000387535:E33G	ENSP00000387535:E33G	E	-	2	0	IRGQ	48791233	0.971000	0.33674	0.921000	0.36526	0.587000	0.36485	1.979000	0.40608	1.802000	0.52723	0.459000	0.35465	GAG		0.701	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		C	44099393	T	C	44099393	3	2	9	1	0	0	0	0	1	0	0	0	7839	1551	54	2	1781	2	IRGQ	19	44099393	Missense_Mutation	SNP	T	TCGA-KL-8331-01A-11D-2310-10	21735759	44099393	15029590	59	700											
CD33	945	broad.mit.edu	37	chr19	51738423	51738423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcagggaaacaagagAccagagcaggagtggttcat	13	7	14	7	0	2	2	1	0	1	2	2	5	2	4	1	3	3	3	1	3	2	1			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:51738423A>G	ENST00000262262.4	+	5	778	c.757A>G	c.(757-759)Acc>Gcc	p.T253A	CD33_ENST00000436584.2_Missense_Mutation_p.T126A|CD33_ENST00000421133.2_Missense_Mutation_p.T126A|CD33_ENST00000391796.3_Missense_Mutation_p.T253A	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	253					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAAACAAGAGACCAGAGCAGG	0.478																																						.											0													115	101	106					19																	51738423		2203	4300	6503	SO:0001583	missense	945			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.757A>G	19.37:g.51738423A>G	ENSP00000262262:p.Thr253Ala		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	0.579	-0.837998	0.02692	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.36699	1.24;3.53;3.53;2.3	3.94	-2.66	0.06077	.	.	.	.	.	T	0.23806	0.0576	L	0.54323	1.7	0.09310	N	1	B;B;B	0.17667	0.006;0.023;0.022	B;B;B	0.12837	0.002;0.007;0.008	T	0.31888	-0.9927	9	0.20519	T	0.43	.	0.8704	0.01213	0.3285:0.3269:0.1846:0.16	.	126;253;253	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	A	126;253;126;253	ENSP00000403331:T126A;ENSP00000262262:T253A;ENSP00000410126:T126A;ENSP00000375673:T253A	ENSP00000262262:T253A	T	+	1	0	CD33	56430235	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.492000	0.00973	-0.322000	0.08615	-0.496000	0.04628	ACC		0.478	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		G	51738423	A	G	51738423	3	3	9	1	0	0	0	0	1	0	0	0	3005	275	10	2	775	2	CD33	19	51738423	Missense_Mutation	SNP	A	TCGA-KL-8331-01A-11D-2310-10	7639030	51738423	7390560	60	701											
IGLON5	402665	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	51828628	51828628	+	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	cgcattgtgaacatctcgtcGcctgtgacggtgaatgaggg	8	10	14	9	4	1	4	0	4	1	0	3	4	1	4	1	2	1	1	1	2	2	1			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr19:51828628G>A	ENST00000270642.8	+	4	420	c.420G>A	c.(418-420)tcG>tcA	p.S140S		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	140	Ig-like C2-type 2.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						ACATCTCGTCGCCTGTGACGG	0.647																																						.											0													36	40	39					19																	51828628		2099	4214	6313	SO:0001819	synonymous_variant	402665				CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.420G>A	19.37:g.51828628G>A				Silent	SNP	ENST00000270642.8	37	CCDS46158.1																																																																																				0.647	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		A	51828628	G	A	51828628	2	1	9	1	0	0	0	0	0	0	0	1	7595	1074	38	1		1	IGLON5	19	51828628	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10	90205	51828628	7300355	61	702											
CSNK2A1	1457	mdanderson.org	37	chr20	464702	464702	+	Missense_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	gaggtccaaggggtgaagggGttggcactgaagaaatccct	11	7	16	7	0	0	3	0	2	0	1	2	4	2	3	2	6	0	2	2	6	4	1	rs61747403		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr20:464702G>A	ENST00000217244.3	-	14	1454	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	CSNK2A1_ENST00000400227.3_Intron|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.T224I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T360I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	360					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)			GGGTGAAGGGGTTGGCACTGA	0.547																																						.											0													30	28	28					20																	464702		2202	4300	6502	SO:0001583	missense	1457			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.1079C>T	20.37:g.464702G>A	ENSP00000217244:p.Thr360Ile		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	9.824	1.186681	0.21870	.	.	ENSG00000101266	ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T	0.63096	0.37;0.37;-0.02	5.29	5.29	0.74685	.	0.330353	0.37178	N	0.002217	T	0.48840	0.1522	N	0.19112	0.55	0.53688	D	0.999978	B	0.19583	0.037	B	0.14578	0.011	T	0.36212	-0.9757	10	0.25751	T	0.34	-23.4981	18.1087	0.89528	0.0:0.0:1.0:0.0	.	360	P68400	CSK21_HUMAN	I	360;360;360;224	ENSP00000339247:T360I;ENSP00000217244:T360I;ENSP00000383076:T224I	ENSP00000217244:T360I	T	-	2	0	CSNK2A1	412702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.856000	0.69518	2.749000	0.94314	0.655000	0.94253	ACC		0.547	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		A	464702	G	A	464702	3	1	9	1	0	0	0	0	1	0	0	0	3957	1261	44	3	100	3	CSNK2A1	20	464702	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10		464702	62560818	62	703											
NCOA3	8202	broad.mit.edu;bcgsc.ca	37	chr20	46266522	46266522	+	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	ggtgtttcaaggaactaattCtctgggtaagaatgaactag	13	12	11	5	0	2	2	1	1	1	1	3	3	2	3	0	3	2	2	0	3	7	5			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr20:46266522C>A	ENST00000371998.3	+	13	2698	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y	NCOA3_ENST00000341724.6_Missense_Mutation_p.S846Y|NCOA3_ENST00000372004.3_Missense_Mutation_p.S836Y|NCOA3_ENST00000371997.3_Missense_Mutation_p.S846Y			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	836					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						GGAACTAATTCTCTGGGTAAG	0.358																																						.											0													148	146	147					20																	46266522		2203	4300	6503	SO:0001583	missense	8202			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.2507C>A	20.37:g.46266522C>A	ENSP00000361066:p.Ser836Tyr		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289393	0.40494	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02345	4.36;4.49;4.48;4.33	5.38	5.38	0.77491	.	0.328975	0.30383	N	0.009756	T	0.06826	0.0174	L	0.59436	1.845	0.40523	D	0.98085	P;P;B;P;P;P	0.50272	0.823;0.933;0.437;0.823;0.573;0.732	B;P;B;B;B;B	0.44477	0.321;0.451;0.223;0.321;0.397;0.321	T	0.11470	-1.0586	10	0.56958	D	0.05	-11.602	19.0809	0.93180	0.0:1.0:0.0:0.0	.	836;846;840;836;836;836	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	Y	836;846;836;836;846	ENSP00000342123:S846Y;ENSP00000361073:S836Y;ENSP00000361066:S836Y;ENSP00000361065:S846Y	ENSP00000345671:S836Y	S	+	2	0	NCOA3	45699929	0.310000	0.24527	0.995000	0.50966	0.367000	0.29736	2.668000	0.46816	2.680000	0.91292	0.655000	0.94253	TCT		0.358	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46266522	C	A	46266522	3	1	9	1	0	0	0	0	1	0	0	0	10230	913	32	5	2579	5	NCOA3	20	46266522	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	45801820	46266522	16758998	63	704											
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	57768140	57768140	+	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	ggacatatccgcaggggcaaCgccagagccttggggaaatc	11	5	14	11	2	0	1	0	0	0	1	2	3	1	3	3	5	2	2	3	5	3	2			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr20:57768140C>T	ENST00000371030.2	+	1	2066	c.2066C>T	c.(2065-2067)aCg>aTg	p.T689M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	689							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)					GCAGGGGCAACGCCAGAGCCT	0.617																																						.											0													29	36	34					20																	57768140		2050	4184	6234	SO:0001583	missense	128611			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.2066C>T	20.37:g.57768140C>T	ENSP00000360069:p.Thr689Met		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337178	0.24253	.	.	ENSG00000124203	ENST00000371030	T	0.04454	3.62	4.54	-9.07	0.00724	.	1.784740	0.02778	N	0.120580	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.35182	0.197	T	0.44862	-0.9300	10	0.66056	D	0.02	-0.8026	4.1301	0.10146	0.304:0.1204:0.4648:0.1108	.	689	Q5JPB2	ZN831_HUMAN	M	689	ENSP00000360069:T689M	ENSP00000360069:T689M	T	+	2	0	ZNF831	57201535	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.345000	0.02637	-2.321000	0.00641	-0.902000	0.02854	ACG		0.617	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57768140	C	T	57768140	3	4	9	1	0	0	0	0	1	0	0	0	18182	536	19	1	2068	1	ZNF831	20	57768140	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	11501618	57768140	5257380	64	705											
GRIK1	2897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr21	30963507	30963507	+	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	gacttgtctttgttgctgtcCgtcatgttaagcccactgtt	5	17	9	10	1	2	0	1	0	1	0	3	1	3	0	2	0	2	4	2	0	1	5	rs144528849		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chr21:30963507C>T	ENST00000399907.1	-	10	1701	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000389124.2_Silent_p.T430T|GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000399913.1_Silent_p.T430T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000399914.1_Silent_p.T415T|GRIK1_ENST00000327783.4_Silent_p.T430T|GRIK1_ENST00000389125.3_Silent_p.T415T	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	430					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.T430T(1)|p.T415T(1)		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)	TGTTGCTGTCCGTCATGTTAA	0.448																																						.											2	Substitution - coding silent(2)	large_intestine(2)						C	,	2,4404	4.2+/-10.8	0,2,2201	397	313	341		1290,1245	-10.1	0.1	21	dbSNP_134	341	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	430/919,415/906	30963507	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2897				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.1290G>A	21.37:g.30963507C>T			Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																				0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			T	30963507	C	T	30963507	2	4	9	1	0	0	0	0	0	0	0	1	6773	639	23	1		1	GRIK1	21	30963507	Silent	SNP	C	TCGA-KL-8331-01A-11D-2310-10		30963507	17166388	65	706											
ARSF	416	broad.mit.edu	37	chrX	2986145	2986145	+	Frame_Shift_Del	DEL	A	A	-																															gtattccaagctgcacaatgAggcccaggtaggtaaagcca																										TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:2986145delA	ENST00000381127.1	+	2	225	c.4delA	c.(4-6)aggfs	p.R2fs	ARSF_ENST00000359361.2_Frame_Shift_Del_p.R2fs|ARSF_ENST00000537104.1_Intron	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	2					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)				CTGCACAATGAGGCCCAGGTA	0.363																																						.											0													112	91	98					X																	2986145		2203	4300	6503	SO:0001589	frameshift_variant	416			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.4delA	X.37:g.2986145delA	ENSP00000370519:p.Arg2fs		Q8TCC5	Frame_Shift_Del	DEL	ENST00000381127.1	37	CCDS14123.1																																																																																				0.363	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			-	2986145	A	-	2986145	7	5	9	1	0	1	0	1	0	0	0	0	991	295	11	0	6	0	ARSF	23	2986145	Frame_Shift_Del	DEL	A	TCGA-KL-8331-01A-11D-2310-10		2986145	152284415	66	707											
USP9X	8239	broad.mit.edu	37	chrX	41029423	41029423	+	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	aaattgagctctttgtgggcGgtgagctgatagatcctgca	9	12	13	7	1	1	4	0	3	1	1	2	4	2	4	1	2	3	3	1	2	2	3			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:41029423G>A	ENST00000324545.8	+	19	3445	c.2812G>A	c.(2812-2814)Ggt>Agt	p.G938S	USP9X_ENST00000378308.2_Missense_Mutation_p.G938S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	938					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTTGTGGGCGGTGAGCTGAT	0.343																																					Ovarian(172;1807 2695 35459 49286)	.											0													80	73	75					X																	41029423		2109	4244	6353	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2812G>A	X.37:g.41029423G>A	ENSP00000316357:p.Gly938Ser		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052267	0.93793	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03468	3.93;3.92	5.85	5.85	0.93711	.	0.092526	0.85682	D	0.000000	T	0.16896	0.0406	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.65140	0.706;0.932	T	0.00052	-1.2191	10	0.54805	T	0.06	.	19.0483	0.93030	0.0:0.0:1.0:0.0	.	938;938	Q93008-1;Q93008	.;USP9X_HUMAN	S	938	ENSP00000367558:G938S;ENSP00000316357:G938S	ENSP00000316357:G938S	G	+	1	0	USP9X	40914367	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.863000	0.87023	2.448000	0.82819	0.594000	0.82650	GGT		0.343	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41029423	G	A	41029423	3	1	9	1	0	0	0	0	1	0	0	0	17087	1116	39	1	2882	1	USP9X	23	41029423	Missense_Mutation	SNP	G	TCGA-KL-8331-01A-11D-2310-10	38043278	41029423	114241137	67	708											
PCDH19	57526	broad.mit.edu;mdanderson.org	37	chrX	99661925	99661925	+	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	gtgatgaccggggtgttgtcGttgacgtcgaggatgatgac	7	11	17	6	4	0	5	0	5	0	0	2	7	0	6	1	3	0	2	1	3	0	2	rs267606933		TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:99661925G>A	ENST00000373034.4	-	1	3346	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	PCDH19_ENST00000420881.2_Silent_p.N557N|PCDH19_ENST00000255531.7_Silent_p.N557N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		N -> K (in EIEE9). {ECO:0000269|PubMed:18469813, ECO:0000269|PubMed:19752159}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGTGTTGTCGTTGACGTCGA	0.582																																						.											0			GRCh37	CM081730	PCDH19	M							125	122	123					X																	99661925		2158	4240	6398	SO:0001819	synonymous_variant	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1671C>T	X.37:g.99661925G>A			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	CCDS55462.1																																																																																				0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99661925	G	A	99661925	2	1	9	1	0	0	0	0	0	0	0	1	11514	1136	40	1		1	PCDH19	23	99661925	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10	58632502	99661925	55608635	68	709											
HS6ST2	90161	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	132091342	132091342	+	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	agcttgttggatttctcatcCatgttcccgacgctggggga	6	13	12	10	2	1	0	1	0	1	0	4	3	3	2	2	3	1	4	2	3	0	4			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:132091342C>A	ENST00000370836.2	-	3	856	c.441G>T	c.(439-441)atG>atT	p.M147I	HS6ST2_ENST00000521489.1_Missense_Mutation_p.M147I|HS6ST2_ENST00000370833.2_Start_Codon_SNP_p.M1I	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	147					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATTTCTCATCCATGTTCCCGA	0.617																																						.											0													40	41	41					X																	132091342		2044	4167	6211	SO:0001583	missense	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.441G>T	X.37:g.132091342C>A	ENSP00000359873:p.Met147Ile		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781470	0.49891	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000370833	T;T;T;T	0.79749	-1.2;-0.83;-0.98;-1.3	5.48	4.56	0.56223	.	0.466802	0.24211	N	0.040537	T	0.68210	0.2976	N	0.08118	0	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.47251	0.542;0.542	T	0.74791	-0.3545	10	0.87932	D	0	-13.3626	11.6659	0.51372	0.1775:0.8225:0.0:0.0	.	147;147	Q96MM7;E9PDY5	H6ST2_HUMAN;.	I	1;147;147;1	ENSP00000359874:M1I;ENSP00000359873:M147I;ENSP00000429473:M147I;ENSP00000359870:M1I	ENSP00000359870:M1I	M	-	3	0	HS6ST2	131919024	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.358000	0.66064	2.292000	0.77174	0.529000	0.55759	ATG		0.617	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		A	132091342	C	A	132091342	3	1	9	1	0	0	0	0	1	0	0	0	7371	594	21	5	1512	5	HS6ST2	23	132091342	Missense_Mutation	SNP	C	TCGA-KL-8331-01A-11D-2310-10	32429417	132091342	23179218	69	710											
PASD1	139135	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	150817086	150817086	+	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	tctcttttttcctatttataGtagctctcaaggtcaaagag	10	17	6	8	0	3	1	2	0	2	1	6	1	4	1	1	1	1	2	1	1	6	8			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:150817086G>A	ENST00000370357.4	+	9	874		c.e9-1			NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1							nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTTATAGTAGCTCTCAA	0.383																																						.											0													140	134	136					X																	150817086		2203	4300	6503	SO:0001630	splice_region_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.630-1G>A	X.37:g.150817086G>A			Q3MNE0|Q69HD7|Q8N7X9	Splice_Site	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830713	0.32329	.	.	ENSG00000166049	ENST00000370357	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5831	0.50902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PASD1	150567742	0.038000	0.19896	0.028000	0.17463	0.176000	0.22953	1.554000	0.36266	2.014000	0.59158	0.422000	0.28245	.		0.383	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	Intron	A	150817086	G	A	150817086	5	1	9	1	0	0	0	0	0	0	1	0	11471	1043	36	4	659	4	PASD1	23	150817086	Splice_Site	SNP	G	TCGA-KL-8331-01A-11D-2310-10	18725744	150817086	4453474	70	711											
MAGEA10	4109	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	151303811	151303811	+	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	ggaagggaagcaacgaccgaGggggaggagcaggctatctg	12	3	19	7	2	1	0	0	0	1	0	1	6	1	4	1	6	3	3	1	6	4	1			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:151303811G>A	ENST00000370323.4	-	4	598	c.282C>T	c.(280-282)ccC>ccT	p.P94P	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.P94P	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	94						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)					CAACGACCGAGGGGGAGGAGC	0.547																																						.											0													172	174	174					X																	151303811		2203	4300	6503	SO:0001819	synonymous_variant	4109				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.282C>T	X.37:g.151303811G>A				Silent	SNP	ENST00000370323.4	37	CCDS14705.1																																																																																				0.547	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		A	151303811	G	A	151303811	2	1	9	1	0	0	0	0	0	0	0	1	9164	987	35	4		4	MAGEA10	23	151303811	Silent	SNP	G	TCGA-KL-8331-01A-11D-2310-10	486725	151303811	3966749	71	712											
ZNF185	7739	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	152091354	152091354	+	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	gctgggagccaggagctcagGtgggtgccgagagctgactc	7	6	18	10	1	1	2	1	1	0	1	2	5	1	4	2	4	4	3	2	4	0	0			TCGA-KL-8331-01A-11D-2310-10	TCGA-KL-8331-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7087a2b6-7fc4-45b0-8c48-248864f03deb	2ca67854-9fef-4b3e-a4e0-0432df5a5800	g.chrX:152091354G>T	ENST00000370268.4	+	11	864		c.e11+1		ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000535861.1_Splice_Site|ZNF185_ENST00000449285.2_Splice_Site|ZNF185_ENST00000539731.1_Splice_Site|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000370270.2_Splice_Site			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)					AGGAGCTCAGGTGGGTGCCGA	0.637																																						.											0													26	28	28					X																	152091354		2165	4249	6414	SO:0001630	splice_region_variant	7739			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.827+1G>T	X.37:g.152091354G>T			A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Splice_Site	SNP	ENST00000370268.4	37	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394119	0.42410	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000433245;ENST00000370268;ENST00000447088;ENST00000447792	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7633	0.40545	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF185	151842010	1.000000	0.71417	0.819000	0.32651	0.323000	0.28346	3.518000	0.53451	2.051000	0.60960	0.436000	0.28706	.		0.637	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	Intron	T	152091354	G	T	152091354	5	4	9	1	0	0	0	0	0	0	1	0	17749	1275	44	5	888	5	ZNF185	23	152091354	Splice_Site	SNP	G	TCGA-KL-8331-01A-11D-2310-10	787543	152091354	3179206	72	713											
AGRN	375790	broad.mit.edu	37	chr1	983491	983493	+	In_Frame_Del	DEL	TGA	TGA	-																															gcgcctgccgtcctctgctgTgacccctcgggccccgcacc																										TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:983491_983493delTGA	ENST00000379370.2	+	23	3901_3903	c.3851_3853delTGA	c.(3850-3855)gtgacc>gcc	p.1284_1285VT>A		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1284	Ser/Thr-rich.				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)		TCCTCTGCTGTGACCCCTCGGGC	0.695																																						.											0																																										SO:0001651	inframe_deletion	375790			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.3851_3853delTGA	1.37:g.983491_983493delTGA	ENSP00000368678:p.Val1284_Thr1285delinsAla		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	In_Frame_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																				0.695	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		-	983493	TGA	-	983491	7	5	10	1	0	1	0	1	0	0	0	0	397	1696	59	0	3941	0	AGRN	1	983491	In_Frame_Del	DEL	TGA	TCGA-KL-8332-01A-11D-2310-10		983491	248267130	1	714											
TMEM201	199953	ucsc.edu	37	chr1	9661448	9661448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgggcagagccaccagAcgggcgtcgtggcactgggc	6	6	16	13	3	0	2	0	0	0	2	1	2	0	2	3	4	1	2	3	4	0	1			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:9661448A>G	ENST00000340381.6	+	5	901	c.892A>G	c.(892-894)Acg>Gcg	p.T298A	TMEM201_ENST00000340305.5_Missense_Mutation_p.T298A|TMEM201_ENST00000377376.4_Missense_Mutation_p.T298A	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	298					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)		GAGCCACCAGACGGGCGTCGT	0.697																																						.											0													47	52	50					1																	9661448		2203	4298	6501	SO:0001583	missense	199953				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.892A>G	1.37:g.9661448A>G	ENSP00000344503:p.Thr298Ala		B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.936|9.936	1.216223|1.216223	0.22373|0.22373	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.92|4.92	2.56|2.56	0.30785|0.30785	.|.	.|0.709593	.|0.13717	.|N	.|0.367656	T|T	0.20210|0.20210	0.0486|0.0486	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B	.|0.25206	.|0.12;0.041	.|B;B	.|0.27262	.|0.078;0.047	T|T	0.18650|0.18650	-1.0330|-1.0330	5|9	.|0.35671	.|T	.|0.21	-0.5121|-0.5121	6.1404|6.1404	0.20257|0.20257	0.7205:0.0:0.2795:0.0|0.7205:0.0:0.2795:0.0	.|.	.|298;298	.|E9PBR6;Q5SNT2-2	.|.;.	G|A	207|298	.|.	.|ENSP00000344772:T298A	D|T	+|+	2|1	0|0	TMEM201|TMEM201	9584035|9584035	0.020000|0.020000	0.18652|0.18652	0.722000|0.722000	0.30670|0.30670	0.762000|0.762000	0.43233|0.43233	-0.055000|-0.055000	0.11807|0.11807	0.734000|0.734000	0.32515|0.32515	0.460000|0.460000	0.39030|0.39030	GAC|ACG		0.697	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		G	9661448	A	G	9661448	3	3	10	1	0	0	0	0	1	0	0	0	16123	275	10	2	910	2	TMEM201	1	9661448	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	8677957	9661448	239589173	2	715											
HSPG2	3339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	22176895	22176895	+	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	ctcaatggtgaccaggacagAggcctctagaggcacggagc	11	5	14	11	1	2	3	1	1	1	2	2	5	2	5	2	5	1	1	2	5	2	1			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:22176895A>T	ENST00000374695.3	-	56	7334	c.7255T>A	c.(7255-7257)Tct>Act	p.S2419T	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2419	Ig-like C2-type 9.				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)	ACCAGGACAGAGGCCTCTAGA	0.677																																						.											0													28	28	28					1																	22176895		2202	4299	6501	SO:0001583	missense	3339			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.7255T>A	1.37:g.22176895A>T	ENSP00000363827:p.Ser2419Thr		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416217	0.42918	.	.	ENSG00000142798	ENST00000374695	T	0.67171	-0.25	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38217	N	0.001776	T	0.74038	0.3664	L	0.49455	1.56	0.41410	D	0.987733	D;D	0.64830	0.965;0.994	P;D	0.78314	0.775;0.991	T	0.69525	-0.5122	10	0.10902	T	0.67	.	13.4578	0.61210	1.0:0.0:0.0:0.0	.	359;2419	Q59EG0;P98160	.;PGBM_HUMAN	T	2419	ENSP00000363827:S2419T	ENSP00000363827:S2419T	S	-	1	0	HSPG2	22049482	1.000000	0.71417	0.948000	0.38648	0.410000	0.31052	3.281000	0.51685	2.077000	0.62373	0.459000	0.35465	TCT		0.677	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22176895	A	T	22176895	3	4	10	1	0	0	0	0	1	0	0	0	7430	304	11	5	6088	5	HSPG2	1	22176895	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	12515447	22176895	227073726	3	716											
SLC9A1	6548	bcgsc.ca	37	chr1	27436145	27436146	+	Frame_Shift_Ins	INS	-	-	A																															gtgaaggctgcgatgaccccINSgtagaccacgcccacaagca																								rs529383211		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:27436145_27436146insA	ENST00000263980.3	-	3	1511_1512	c.936_937insT	c.(934-939)tacgggfs	p.G313fs	SLC9A1_ENST00000374086.3_Frame_Shift_Ins_p.G313fs|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	313					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)	GCGATGACCCCGTAGACCACGC	0.594																																						.											0																																										SO:0001589	frameshift_variant	6548			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.936_937insT	1.37:g.27436145_27436146insA	ENSP00000263980:p.Gly313fs		B1ALD6|D3DPL4|Q96EM2	Frame_Shift_Ins	INS	ENST00000263980.3	37	CCDS295.1																																																																																				0.594	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		A	27436146	-	A	27436145	7	5	10	1	0	1	1	0	0	0	0	0	14709	652	23	0	1550	0	SLC9A1	1	27436145	Frame_Shift_Ins	INS	-	TCGA-KL-8332-01A-11D-2310-10	5259250	27436145	221814476	4	717											
SPOCD1	90853	ucsc.edu;bcgsc.ca	37	chr1	32280705	32280705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacccctggccggaccTcagcagcacctgcagcccgg	8	3	11	19	2	1	1	1	0	0	1	1	2	1	2	7	3	4	3	7	3	1	0			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:32280705T>C	ENST00000360482.2	-	2	359	c.230A>G	c.(229-231)gAg>gGg	p.E77G	SPOCD1_ENST00000533231.1_Missense_Mutation_p.E77G|SPOCD1_ENST00000373648.2_Missense_Mutation_p.E77G|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	77					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)		TGGCCGGACCTCAGCAGCACC	0.672																																						.											0													29	32	31					1																	32280705		2203	4300	6503	SO:0001583	missense	90853			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.230A>G	1.37:g.32280705T>C	ENSP00000353670:p.Glu77Gly		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	T	5.069	0.198303	0.09652	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.35973	1.72;1.28;1.72	3.4	-3.04	0.05412	.	.	.	.	.	T	0.17492	0.0420	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	0.21075	-1.0256	9	0.59425	D	0.04	-0.1588	8.8639	0.35274	0.0:0.3432:0.0:0.6568	.	77;77	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	G	77	ENSP00000353670:E77G;ENSP00000362752:E77G;ENSP00000435851:E77G	ENSP00000353670:E77G	E	-	2	0	SPOCD1	32053292	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.337000	0.07852	-0.725000	0.04901	-0.132000	0.14878	GAG		0.672	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		C	32280705	T	C	32280705	3	2	10	1	0	0	0	0	1	0	0	0	15077	1551	54	2	3480	2	SPOCD1	1	32280705	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	4844560	32280705	216969916	5	718											
GJB3	2707	broad.mit.edu	37	chr1	35250386	35250386	+	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	ggactggaagacactccaggCcctactgagcggtgtgaaca	11	6	13	11	1	0	3	0	2	0	1	1	5	1	5	2	4	3	0	2	4	3	1			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:35250386C>A	ENST00000373366.2	+	2	638	c.23C>A	c.(22-24)gCc>gAc	p.A8D	GJB3_ENST00000373362.3_Missense_Mutation_p.A8D|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	8					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACACTCCAGGCCCTACTGAGC	0.552																																						.											0													88	69	76					1																	35250386		2203	4300	6503	SO:0001583	missense	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.23C>A	1.37:g.35250386C>A	ENSP00000362464:p.Ala8Asp		B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	CCDS384.1	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.467938	0.01053	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.99089	-5.41;-5.41	5.85	-1.61	0.08399	Connexin, N-terminal (1);	0.621249	0.16477	N	0.212733	D	0.95459	0.8525	N	0.17723	0.515	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	D	0.85997	0.1492	10	0.12430	T	0.62	.	14.2953	0.66308	0.2538:0.1754:0.5708:0.0	.	8	O75712	CXB3_HUMAN	D	8	ENSP00000362464:A8D;ENSP00000362460:A8D	ENSP00000362460:A8D	A	+	2	0	GJB3	35022973	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.592000	0.05747	-0.458000	0.07023	-1.131000	0.01979	GCC		0.552	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		A	35250386	C	A	35250386	3	1	10	1	0	0	0	0	1	0	0	0	6409	739	26	5	25	5	GJB3	1	35250386	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	2969681	35250386	214000235	6	719											
DOCK7	85440	hgsc.bcm.edu;bcgsc.ca	37	chr1	63005305	63005305	+	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	aaagaatgcaaggcttgtatTgagtctctcaaccatttctg	12	13	8	8	0	3	2	1	1	2	1	4	2	3	2	1	1	2	3	1	1	5	4	rs371894094		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:63005305T>A	ENST00000340370.5	-	26	3135	c.3118A>T	c.(3118-3120)Aat>Tat	p.N1040Y	DOCK7_ENST00000251157.5_Missense_Mutation_p.N1071Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1071					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						AGGCTTGTATTGAGTCTCTCA	0.348																																						.											0													90	100	96					1																	63005305		2203	4300	6503	SO:0001583	missense	85440				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.3118A>T	1.37:g.63005305T>A	ENSP00000340742:p.Asn1040Tyr		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.602421|4.602421	0.87157|0.87157	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	T;T|.	0.29397|.	1.57;1.57|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83917|0.83917	0.5358|0.5358	M|M	0.90145|0.90145	3.09|3.09	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.998;0.997;0.993;0.993|.	D|D	0.87095|0.87095	0.2175|0.2175	10|5	0.87932|.	D|.	0|.	.|.	15.8711|15.8711	0.79119|0.79119	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1071;1040;1040;1040;1071|.	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	.;.;.;.;.|.	Y|L	1071;1071;1040|242	ENSP00000251157:N1071Y;ENSP00000340742:N1040Y|.	ENSP00000251157:N1071Y|.	N|Q	-|-	1|2	0|0	DOCK7|DOCK7	62777893|62777893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.772000|7.772000	0.85439|0.85439	2.334000|2.334000	0.79466|0.79466	0.528000|0.528000	0.53228|0.53228	AAT|CAA		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		A	63005305	T	A	63005305	3	1	10	1	0	0	0	0	1	0	0	0	4692	1812	63	5	3307	5	DOCK7	1	63005305	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	27754919	63005305	186245316	7	720											
FAM73A	374986	ucsc.edu	37	chr1	78269049	78269049	+	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	tgtaactatgctaatggaggActtttcagtaaatattcagg	13	14	9	5	0	2	0	2	0	0	0	2	2	2	2	0	3	2	3	0	3	6	8			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:78269049A>G	ENST00000370791.3	+	4	500	c.468A>G	c.(466-468)ggA>ggG	p.G156G	FAM73A_ENST00000443751.2_Silent_p.G118G	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	156						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)		CTAATGGAGGACTTTTCAGTA	0.318																																						.											0													58	57	57					1																	78269049		2202	4294	6496	SO:0001819	synonymous_variant	374986				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.468A>G	1.37:g.78269049A>G			Q6MZG0	Silent	SNP	ENST00000370791.3	37	CCDS681.1																																																																																				0.318	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		G	78269049	A	G	78269049	2	3	10	1	0	0	0	0	0	0	0	1	5617	262	10	2		2	FAM73A	1	78269049	Silent	SNP	A	TCGA-KL-8332-01A-11D-2310-10	15263744	78269049	170981572	8	721											
PTGFRN	5738	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	117491967	117491967	+	Missense_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	cagcaccctacctggctcccGcgtgttggcgcggcttgacc	4	8	12	17	4	0	1	0	1	0	0	1	1	1	1	4	3	2	4	4	3	1	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:117491967G>A	ENST00000393203.2	+	4	1133	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	329	Ig-like C2-type 3.				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)		CCTGGCTCCCGCGTGTTGGCG	0.592																																						.											0													111	92	99					1																	117491967		2203	4300	6503	SO:0001583	missense	5738			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.986G>A	1.37:g.117491967G>A	ENSP00000376899:p.Arg329His		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014082	0.19277	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.66460	-0.21	5.57	-9.03	0.00737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.709830	0.14938	N	0.289670	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.14227	-1.0480	10	0.42905	T	0.14	-4.1024	8.1169	0.30948	0.2011:0.1105:0.5803:0.1082	.	329	Q9P2B2	FPRP_HUMAN	H	329;188	ENSP00000376899:R329H	ENSP00000376899:R329H	R	+	2	0	PTGFRN	117293490	0.000000	0.05858	0.000000	0.03702	0.655000	0.38815	0.091000	0.15046	-2.101000	0.00846	-0.291000	0.09656	CGC		0.592	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		A	117491967	G	A	117491967	3	1	10	1	0	0	0	0	1	0	0	0	12750	1087	38	1	1000	1	PTGFRN	1	117491967	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	39222918	117491967	131758654	9	722											
BCAN	63827	broad.mit.edu	37	chr1	156622489	156622489	+	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	gggtccctcgaggagagagcGaggagacaggaagctccgag	11	3	18	9	3	0	2	0	0	0	2	3	9	2	4	2	4	2	1	2	4	1	0			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:156622489G>A	ENST00000329117.5	+	8	2083	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E583K	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	583					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)					AGGAGAGAGCGAGGAGACAGG	0.622																																						.											0													51	54	53					1																	156622489		2203	4300	6503	SO:0001583	missense	63827			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.1747G>A	1.37:g.156622489G>A	ENSP00000331210:p.Glu583Lys		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334596	0.81801	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.14391	2.51;3.14	4.29	4.29	0.51040	.	0.275036	0.21601	N	0.071951	T	0.09905	0.0243	N	0.24115	0.695	0.40596	D	0.981538	D;D	0.71674	0.957;0.998	B;P	0.57846	0.284;0.828	T	0.17531	-1.0366	10	0.30854	T	0.27	-13.5208	12.1032	0.53796	0.0:0.0:1.0:0.0	.	583;583	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	K	583	ENSP00000331210:E583K;ENSP00000354925:E583K	ENSP00000331210:E583K	E	+	1	0	BCAN	154889113	0.986000	0.35501	0.998000	0.56505	0.793000	0.44817	3.354000	0.52254	2.228000	0.72767	0.455000	0.32223	GAG		0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		A	156622489	G	A	156622489	3	1	10	1	0	0	0	0	1	0	0	0	1345	1059	37	1	1773	1	BCAN	1	156622489	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	39130522	156622489	92628132	10	723											
FAM82A1	151393	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	38224599	38224599	+	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	tgagaaaaaaatggctgctaCtctgtttggaaaaataccat	16	11	8	6	0	1	1	0	1	1	1	1	3	1	2	1	2	3	3	1	2	7	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:38224599C>T	ENST00000406384.1	+	8	1180	c.986C>T	c.(985-987)aCt>aTt	p.T329I	RMDN2_ENST00000234195.3_Missense_Mutation_p.T507I|RMDN2_ENST00000417700.2_Missense_Mutation_p.T184I|RMDN2_ENST00000354545.2_Missense_Mutation_p.T329I|RMDN2_ENST00000407257.1_Missense_Mutation_p.T507I|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	329						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											ATGGCTGCTACTCTGTTTGGA	0.348																																						.											0													133	132	132					2																	38224599		2203	4300	6503	SO:0001583	missense	151393			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.986C>T	2.37:g.38224599C>T	ENSP00000386004:p.Thr329Ile		A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704670	0.68615	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.82	4.93	0.64822	Tetratricopeptide-like helical (1);	0.240802	0.42053	D	0.000768	T	0.49372	0.1553	M	0.67700	2.07	0.40775	D	0.983123	P;D;D;D	0.64830	0.876;0.994;0.987;0.994	P;P;P;P	0.61940	0.743;0.896;0.733;0.896	T	0.49283	-0.8956	10	0.56958	D	0.05	-10.3645	13.0422	0.58906	0.0:0.9204:0.0:0.0796	.	507;184;329;184	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	I	329;329;507;184;507;184	ENSP00000346549:T329I;ENSP00000386004:T329I;ENSP00000385049:T507I;ENSP00000392977:T184I;ENSP00000234195:T507I;ENSP00000416367:T184I	ENSP00000234195:T507I	T	+	2	0	FAM82A1	38078103	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.722000	0.54948	2.752000	0.94435	0.655000	0.94253	ACT		0.348	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		T	38224599	C	T	38224599	3	4	10	1	0	0	0	0	1	0	0	0	5630	565	20	4	2006	4	FAM82A1	2	38224599	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10		38224599	204974774	11	724											
AAK1	22848	ucsc.edu	37	chr2	69732801	69732801	+	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	cctccaagcttctcgggatgTttgcctggagagacaaaaca	11	9	10	11	1	1	1	0	0	1	1	3	4	2	3	3	2	3	2	3	2	3	2			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:69732801T>C	ENST00000409085.4	-	16	2545	c.2169A>G	c.(2167-2169)aaA>aaG	p.K723K	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Silent_p.K723K	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	723					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						TCTCGGGATGTTTGCCTGGAG	0.493																																						.											0													59	60	60					2																	69732801		1933	4128	6061	SO:0001819	synonymous_variant	22848			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.2169A>G	2.37:g.69732801T>C			Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	CCDS1893.2																																																																																				0.493	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		C	69732801	T	C	69732801	2	2	10	1	0	0	0	0	0	0	0	1	16	1722	60	2		2	AAK1	2	69732801	Silent	SNP	T	TCGA-KL-8332-01A-11D-2310-10	31508202	69732801	173466572	12	725											
RPIA	22934	ucsc.edu	37	chr2	88991370	88991370	+	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	ggcgtgcacagtctgggaccCgtggcggtgctggcaacaca	7	6	16	12	3	1	0	0	0	1	0	1	1	1	1	1	5	3	3	1	5	1	0			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:88991370C>T	ENST00000283646.4	+	1	209	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	52					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GTCTGGGACCCGTGGCGGTGC	0.731																																						.											0													6	11	9					2																	88991370		1813	3966	5779	SO:0001583	missense	22934			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.154C>T	2.37:g.88991370C>T	ENSP00000283646:p.Arg52Cys		Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847640	0.32606	.	.	ENSG00000153574	ENST00000283646	T	0.79749	-1.3	4.66	-0.221	0.13126	.	.	.	.	.	T	0.58666	0.2138	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48305	-0.9047	9	0.62326	D	0.03	1.4726	4.0815	0.09929	0.0:0.3702:0.3553:0.2745	.	52	P49247	RPIA_HUMAN	C	52	ENSP00000283646:R52C	ENSP00000283646:R52C	R	+	1	0	RPIA	88772485	0.000000	0.05858	0.005000	0.12908	0.747000	0.42532	-0.012000	0.12699	-0.139000	0.11414	0.484000	0.47621	CGT		0.731	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			T	88991370	C	T	88991370	3	4	10	1	0	0	0	0	1	0	0	0	13553	652	23	1	156	1	RPIA	2	88991370	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	19258569	88991370	154208003	13	726											
FAM168B	130074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	131813240	131813240	+	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	ccgctggtgggggaacaggaCactttgtaaggtgtgccagg	8	8	17	8	1	0	0	0	0	0	0	0	2	0	2	2	6	2	2	2	6	2	2			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:131813240C>T	ENST00000409185.1	-	4	290	c.183G>A	c.(181-183)gtG>gtA	p.V61V	FAM168B_ENST00000389915.3_Silent_p.V61V	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	61						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						GGGAACAGGACACTTTGTAAG	0.617																																						.											0													43	47	46					2																	131813240		2037	4191	6228	SO:0001819	synonymous_variant	130074				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.183G>A	2.37:g.131813240C>T			Q2TAZ6|Q6NZ40	Silent	SNP	ENST00000409185.1	37	CCDS42755.1																																																																																				0.617	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		T	131813240	C	T	131813240	2	4	10	1	0	0	0	0	0	0	0	1	5486	465	17	4		4	FAM168B	2	131813240	Silent	SNP	C	TCGA-KL-8332-01A-11D-2310-10	42821870	131813240	111386133	14	727											
PLA2R1	22925	broad.mit.edu	37	chr2	160807853	160807853	+	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	gggagttaggatacctacatCtgtggtgaacagtccaatcc	11	10	11	9	0	1	1	0	1	1	0	3	3	3	3	3	3	3	1	3	3	5	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:160807853C>T	ENST00000283243.7	-	24	3744	c.3538G>A	c.(3538-3540)Gat>Aat	p.D1180N	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1180N	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1180	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATACCTACATCTGTGGTGAAC	0.448																																						.											0													156	145	149					2																	160807853		2203	4300	6503	SO:0001583	missense	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3538G>A	2.37:g.160807853C>T	ENSP00000283243:p.Asp1180Asn		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572165	0.28092	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.18810	2.19;2.19	4.94	3.13	0.36017	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.332772	0.32028	N	0.006692	T	0.23649	0.0572	L	0.52206	1.635	0.48452	D	0.999656	B;B;B	0.28470	0.032;0.104;0.213	B;B;B	0.38106	0.182;0.126;0.265	T	0.03534	-1.1027	10	0.28530	T	0.3	.	11.2165	0.48830	0.0:0.8504:0.0:0.1496	.	1180;1180;1180	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	N	1180	ENSP00000283243:D1180N;ENSP00000376524:D1180N	ENSP00000283243:D1180N	D	-	1	0	PLA2R1	160516099	0.995000	0.38212	0.785000	0.31869	0.242000	0.25591	2.858000	0.48356	0.782000	0.33613	0.557000	0.71058	GAT		0.448	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			T	160807853	C	T	160807853	3	4	10	1	0	0	0	0	1	0	0	0	12010	913	32	4	889	4	PLA2R1	2	160807853	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	28994613	160807853	82391520	15	728											
PECR	55825	broad.mit.edu;bcgsc.ca	37	chr2	216946400	216946400	+	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	ccgtggccccgccggtgacgAtggccacttggccctgcagc	4	6	14	17	4	0	1	0	1	0	0	0	2	0	1	6	4	2	1	6	4	0	1			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:216946400A>C	ENST00000265322.7	-	1	139	c.65T>G	c.(64-66)aTc>aGc	p.I22S	TMEM169_ENST00000406027.2_5'Flank|TMEM169_ENST00000454545.1_5'Flank|PECR_ENST00000497889.1_5'UTR|TMEM169_ENST00000437356.2_5'Flank|TMEM169_ENST00000295658.4_5'Flank	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	22				I -> F (in Ref. 2; CAB89810). {ECO:0000305}.	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)	GCCGGTGACGATGGCCACTTG	0.682																																						.											0													36	36	36					2																	216946400		2201	4299	6500	SO:0001583	missense	55825			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.65T>G	2.37:g.216946400A>C	ENSP00000265322:p.Ile22Ser		B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828406	0.90955	.	.	ENSG00000115425	ENST00000265322	T	0.26957	1.7	4.53	4.53	0.55603	NAD(P)-binding domain (1);	0.177601	0.49305	D	0.000144	T	0.52964	0.1767	M	0.87900	2.915	0.47698	D	0.999492	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.952	T	0.60084	-0.7332	10	0.87932	D	0	.	10.1616	0.42855	1.0:0.0:0.0:0.0	.	22;22	B4DJS2;Q9BY49	.;PECR_HUMAN	S	22	ENSP00000265322:I22S	ENSP00000265322:I22S	I	-	2	0	PECR	216654645	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.217000	0.58547	1.905000	0.55150	0.460000	0.39030	ATC		0.682	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		C	216946400	A	C	216946400	3	2	10	1	0	0	0	0	1	0	0	0	11717	333	12	5	878	5	PECR	2	216946400	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	56138547	216946400	26252973	16	729											
CAV3	859	broad.mit.edu	37	chr3	8775578	8775578	+	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	ctgcgatgatggcagaagagCacacagatctcgaggcccag	12	5	13	11	2	1	4	0	1	1	3	2	6	1	4	1	2	2	2	1	2	1	0			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr3:8775578C>T	ENST00000343849.2	+	1	93	c.16C>T	c.(16-18)Cac>Tac	p.H6Y	CAV3_ENST00000397368.2_Missense_Mutation_p.H6Y|SSUH2_ENST00000478513.1_Intron|CAV3_ENST00000472766.1_3'UTR	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	6					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GGCAGAAGAGCACACAGATCT	0.547																																						.											0													107	92	97					3																	8775578		2203	4300	6503	SO:0001583	missense	859			AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"M-caveolin"	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.16C>T	3.37:g.8775578C>T	ENSP00000341940:p.His6Tyr		A8K777|Q3T1A4	Missense_Mutation	SNP	ENST00000343849.2	37	CCDS2569.1	.	.	.	.	.	.	.	.	.	.	C	0.274	-0.990711	0.02162	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.91945	-2.94;-2.94	5.08	4.19	0.49359	.	0.287903	0.34435	N	0.003971	T	0.77136	0.4086	N	0.00926	-1.1	0.29110	N	0.88096	B	0.02656	0.0	B	0.01281	0.0	T	0.69826	-0.5040	10	0.36615	T	0.2	-20.4026	11.9305	0.52843	0.1742:0.8258:0.0:0.0	.	6	P56539	CAV3_HUMAN	Y	6	ENSP00000341940:H6Y;ENSP00000380525:H6Y	ENSP00000341940:H6Y	H	+	1	0	CAV3	8750578	0.809000	0.29036	0.988000	0.46212	0.251000	0.25915	1.119000	0.31258	1.106000	0.41623	0.511000	0.50034	CAC		0.547	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		T	8775578	C	T	8775578	3	4	10	1	0	0	0	0	1	0	0	0	2695	710	25	4	18	4	CAV3	3	8775578	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10		8775578	189246852	17	730											
GOLGA4	2803	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	37360554	37360554	+	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	tctatttggctcattttcagAaatcctcagaagaacaaatt	14	14	5	8	0	4	3	3	0	1	3	5	3	5	3	1	1	1	1	1	1	5	5			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr3:37360554A>T	ENST00000361924.2	+	12	1788	c.1414A>T	c.(1414-1416)Aaa>Taa	p.K472*	GOLGA4_ENST00000356847.4_Splice_Site_p.K494*|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	472	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						TCATTTTCAGAAATCCTCAGA	0.348																																						.											0													65	75	72					3																	37360554		2203	4300	6503	SO:0001630	splice_region_variant	2803			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.1414-1A>T	3.37:g.37360554A>T			F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	41	8.557562	0.98861	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	6.02	6.02	0.97574	.	0.000000	0.38492	N	0.001674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	.	.	.	X	472;494;343	.	.	K	+	1	0	GOLGA4	37335558	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.396000	0.90190	2.311000	0.77944	0.533000	0.62120	AAA		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	Nonsense_Mutation	T	37360554	A	T	37360554	5	4	10	1	0	0	0	0	0	0	1	0	6555	260	9	5	1530	5	GOLGA4	3	37360554	Splice_Site	SNP	A	TCGA-KL-8332-01A-11D-2310-10	28584976	37360554	160661876	18	731											
UROC1	131669	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	126220079	126220079	+	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	accaaagagccaccacgttgCcatggtaaccaaggctgagc	13	5	10	13	1	0	2	0	1	0	1	0	2	0	2	5	2	4	3	5	2	3	2			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr3:126220079C>T	ENST00000290868.2	-	10	1000	c.947G>A	c.(946-948)gGc>gAc	p.G316D	UROC1_ENST00000383579.3_Missense_Mutation_p.G376D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	316					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCACGTTGCCATGGTAACC	0.572																																						.											0													241	231	234					3																	126220079		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.947G>A	3.37:g.126220079C>T	ENSP00000290868:p.Gly316Asp		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.757346	0.69648	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.63417	-0.04;-0.04	4.94	4.94	0.65067	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91262	0.5037	10	0.87932	D	0	-9.3404	15.6633	0.77206	0.0:1.0:0.0:0.0	.	376;316	E9PE13;Q96N76	.;HUTU_HUMAN	D	316;376	ENSP00000290868:G316D;ENSP00000373073:G376D	ENSP00000290868:G316D	G	-	2	0	UROC1	127702769	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.194000	0.77789	2.300000	0.77407	0.486000	0.48141	GGC		0.572	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		T	126220079	C	T	126220079	3	4	10	1	0	0	0	0	1	0	0	0	17025	739	26	3	1127	3	UROC1	3	126220079	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	88859525	126220079	71802351	19	732											
LARP7	51574	hgsc.bcm.edu	37	chr4	113565882	113565883	+	Frame_Shift_Ins	INS	-	-	A																															aagaagaaagcactgaaaagINSaaaaaagaagttgaaaaaaa																										TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:113565882_113565883insA	ENST00000344442.5	+	2	335_336	c.57_58insA	c.(58-60)aaafs	p.K20fs	MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Ins_p.K27fs|LARP7_ENST00000324052.6_Frame_Shift_Ins_p.K20fs	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	20					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)		GCACTGAAAAGAAAAAAGAAGT	0.356																																						.											0																																										SO:0001589	frameshift_variant	51574			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.63dupA	4.37:g.113565888_113565888dupA	ENSP00000344950:p.Lys20fs		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Ins	INS	ENST00000344442.5	37	CCDS3701.2																																																																																				0.356	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113565883	-	A	113565882	7	5	10	1	0	1	1	0	0	0	0	0	8633	933	33	0	59	0	LARP7	4	113565882	Frame_Shift_Ins	INS	-	TCGA-KL-8332-01A-11D-2310-10		113565882	77588394	20	733	20	2									
LARP7	51574	bcgsc.ca	37	chr4	113565883	113565884	+	Frame_Shift_Ins	INS	-	-	A																															agaagaaagcactgaaaagaINSaaaaagaagttgaaaaaaag																										TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:113565883_113565884insA	ENST00000344442.5	+	2	336_337	c.58_59insA	c.(58-60)aaafs	p.K20fs	MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Ins_p.K27fs|LARP7_ENST00000324052.6_Frame_Shift_Ins_p.K20fs	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	20					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)		CACTGAAAAGAAAAAAGAAGTT	0.356																																						.											0																																										SO:0001589	frameshift_variant	51574			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.63dupA	4.37:g.113565888_113565888dupA	ENSP00000344950:p.Lys20fs		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Ins	INS	ENST00000344442.5	37	CCDS3701.2																																																																																				0.356	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113565884	-	A	113565883	7	5	10	1	0	1	1	0	0	0	0	0	8633	247	9	0	60	0	LARP7	4	113565883	Frame_Shift_Ins	INS	-	TCGA-KL-8332-01A-11D-2310-10	1	113565883	77588393	21	734	20	2									
FGA	2243	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	155506759	155506759	+	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	ttcatgatcggcttcacttcCggcctcatctgccattttat	6	16	6	13	2	4	1	3	1	1	0	6	1	5	1	3	2	1	1	3	2	1	5			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:155506759C>T	ENST00000302053.3	-	5	1900	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	FGA_ENST00000403106.3_Missense_Mutation_p.G608R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	608					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCTTCACTTCCGGCCTCATCT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)	.											0													146	134	138					4																	155506759		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1822G>A	4.37:g.155506759C>T	ENSP00000306361:p.Gly608Arg		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757512	0.69648	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.56776	0.44;2.88	5.5	4.66	0.58398	.	5.596130	0.00166	N	0.000001	T	0.64800	0.2631	L	0.50333	1.59	0.09310	N	1	D;D	0.63880	0.993;0.987	P;P	0.52424	0.698;0.502	T	0.54536	-0.8279	10	0.42905	T	0.14	.	13.9898	0.64359	0.1516:0.8484:0.0:0.0	.	608;608	P02671-2;P02671	.;FIBA_HUMAN	R	608	ENSP00000306361:G608R;ENSP00000385981:G608R	ENSP00000306361:G608R	G	-	1	0	FGA	155726209	0.003000	0.15002	0.002000	0.10522	0.146000	0.21551	1.715000	0.37971	1.549000	0.49425	-0.152000	0.13540	GGA		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155506759	C	T	155506759	3	4	10	1	0	0	0	0	1	0	0	0	5830	661	23	1	830	1	FGA	4	155506759	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	41940876	155506759	35647517	22	735											
ADAM29	11086	mdanderson.org	37	chr4	175899001	175899001	+	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	caacctcgggtgatgccttcTcagagtcaacctcctgtgat	8	11	9	13	1	2	3	2	2	1	1	5	3	3	3	4	1	3	0	4	1	2	1	rs111240604	byFrequency	TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:175899001T>C	ENST00000359240.3	+	5	2995	c.2325T>C	c.(2323-2325)tcT>tcC	p.S775S	ADAM29_ENST00000404450.4_Silent_p.S775S|ADAM29_ENST00000445694.1_Silent_p.S775S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.S775S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	775	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGATGCCTTCTCAGAGTCAAC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)	.											0													175	158	163					4																	175899001		2203	4300	6503	SO:0001819	synonymous_variant	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2325T>C	4.37:g.175899001T>C			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				C	175899001	T	C	175899001	2	2	10	1	0	0	0	0	0	0	0	1	247	1538	54	2		2	ADAM29	4	175899001	Silent	SNP	T	TCGA-KL-8332-01A-11D-2310-10	20392242	175899001	15255275	23	736											
SDHA	6389	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	256467	256467	+	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	aggtcactctggaatatagaCccgtgatcgacaaaactttg	13	10	9	9	2	2	2	1	1	1	1	3	4	2	3	1	2	1	0	1	2	5	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr5:256467C>G	ENST00000264932.6	+	15	2042	c.1927C>G	c.(1927-1929)Ccc>Gcc	p.P643A	SDHA_ENST00000504309.1_Missense_Mutation_p.P562A|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.P595A	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	643					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)	GGAATATAGACCCGTGATCGA	0.433									Familial Paragangliomas																													.											0													93	105	101					5																	256467		2203	4300	6503	SO:0001583	missense	6389	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	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.1927C>G	5.37:g.256467C>G	ENSP00000264932:p.Pro643Ala		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	N|N|N	12.65|12.65|12.65	2.002169|2.002169|2.002169	0.35320|0.35320|0.35320	.|.|.	.|.|.	ENSG00000073578|ENSG00000073578|ENSG00000073578	ENST00000509564|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361|ENST00000515815	D|D;D;D|.	0.84660|0.83419|.	-1.88|-1.72;-1.72;-1.72|.	4.12|4.12|4.12	4.12|4.12|4.12	0.48240|0.48240|0.48240	.|Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);|.	.|0.000000|.	.|0.85682|.	.|U|.	.|0.000000|.	T|T|T	0.75133|0.75133|0.75133	0.3808|0.3808|0.3808	M|M|M	0.79693|0.79693|0.79693	2.465|2.465|2.465	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;D;D;B|.	.|0.69078|.	.|0.299;0.994;0.997;0.094|.	.|B;P;D;B|.	.|0.77004|.	.|0.219;0.835;0.989;0.037|.	T|T|T	0.77525|0.77525|0.77525	-0.2555|-0.2555|-0.2555	7|10|5	0.87932|0.48119|.	D|T|.	0|0.1|.	.|.|.	13.8591|13.8591|13.8591	0.63548|0.63548|0.63548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|595;237;562;643|.	.|E9PBJ5;B3KYA5;D6RFM5;P31040|.	.|.;.;.;DHSA_HUMAN|.	E|A|S	100|643;498;562;595|125	ENSP00000421911:D100E|ENSP00000264932:P643A;ENSP00000426514:P562A;ENSP00000427703:P595A|.	ENSP00000421911:D100E|ENSP00000264932:P643A|.	D|P|T	+|+|+	3|1|2	2|0|0	SDHA|SDHA|SDHA	309467|309467|309467	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.982000|0.982000|0.982000	0.44146|0.44146|0.44146	0.264000|0.264000|0.264000	0.26372|0.26372|0.26372	6.951000|6.951000|6.951000	0.75983|0.75983|0.75983	1.861000|1.861000|1.861000	0.53984|0.53984|0.53984	0.305000|0.305000|0.305000	0.20034|0.20034|0.20034	GAC|CCC|ACC		0.433	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		G	256467	C	G	256467	3	3	10	1	0	0	0	0	1	0	0	0	13963	507	18	5	1985	5	SDHA	5	256467	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10		256467	180658793	24	737											
SLC6A19	340024	bcgsc.ca	37	chr5	1208864	1208864	+	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	gactcctcccattgcaggagCcttcatgatcccgttcctca	7	11	7	16	1	2	1	2	1	0	0	6	3	6	2	5	1	2	2	5	1	0	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr5:1208864C>T	ENST00000304460.10	+	2	262	c.206C>T	c.(205-207)gCc>gTc	p.A69V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	69					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATTGCAGGAGCCTTCATGATC	0.662																																						.											0													105	101	102					5																	1208864		2203	4300	6503	SO:0001583	missense	340024			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.206C>T	5.37:g.1208864C>T	ENSP00000305302:p.Ala69Val		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573808	0.65765	.	.	ENSG00000174358	ENST00000304460	T	0.79141	-1.24	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.82193	2.58	0.80722	D	1	P	0.46512	0.879	P	0.47827	0.558	D	0.87742	0.2586	10	0.87932	D	0	.	17.3733	0.87384	0.0:1.0:0.0:0.0	.	69	Q695T7	S6A19_HUMAN	V	69	ENSP00000305302:A69V	ENSP00000305302:A69V	A	+	2	0	SLC6A19	1261864	1.000000	0.71417	0.919000	0.36401	0.559000	0.35586	7.565000	0.82337	2.091000	0.63221	0.485000	0.47835	GCC		0.662	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1208864	C	T	1208864	3	4	10	1	0	0	0	0	1	0	0	0	14682	739	26	3	212	3	SLC6A19	5	1208864	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	952397	1208864	179706396	25	738											
VARS2	57176	broad.mit.edu	37	chr6	30889464	30889464	+	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	ggggcagagctgaccctggaGaggggtgagtgcctgagctg	7	6	20	8	0	0	5	0	3	0	2	0	6	0	5	2	5	3	3	2	5	0	0			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:30889464G>C	ENST00000321897.5	+	17	2363	c.1731G>C	c.(1729-1731)gaG>gaC	p.E577D	VARS2_ENST00000416670.2_Missense_Mutation_p.E577D|VARS2_ENST00000541562.1_Missense_Mutation_p.E607D|VARS2_ENST00000542001.1_Missense_Mutation_p.E437D|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	577					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						TGACCCTGGAGAGGGGTGAGT	0.632																																						.											0													20	19	20					6																	30889464		1508	2707	4215	SO:0001583	missense	57176			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.1731G>C	6.37:g.30889464G>C	ENSP00000316092:p.Glu577Asp		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	14.38	2.519454	0.44866	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.05	4.18	0.49190	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.234323	0.43110	D	0.000602	T	0.21347	0.0514	M	0.67700	2.07	0.29534	N	0.852599	B;B;B	0.20780	0.048;0.039;0.018	B;B;B	0.25506	0.061;0.048;0.018	T	0.21861	-1.0233	10	0.87932	D	0	-5.4286	10.9229	0.47176	0.0919:0.0:0.9081:0.0	.	575;607;577	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	D	577;577;437;607	ENSP00000316092:E577D;ENSP00000394802:E577D;ENSP00000438200:E437D;ENSP00000441000:E607D	ENSP00000316092:E577D	E	+	3	2	VARS2	30997443	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	3.455000	0.52993	1.124000	0.41980	0.555000	0.69702	GAG		0.632	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		C	30889464	G	C	30889464	3	2	10	1	0	0	0	0	1	0	0	0	17121	933	33	5	1891	5	VARS2	6	30889464	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10		30889464	140225603	26	739											
MUC21	394263	mdanderson.org	37	chr6	30954932	30954932	+	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	cagcacaacctccagtggggCcagcacagccaccaactctg	11	4	9	17	0	1	0	0	0	1	0	2	0	2	0	5	2	5	2	5	2	2	0			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:30954932C>T	ENST00000376296.3	+	2	1221	c.980C>T	c.(979-981)gCc>gTc	p.A327V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	327	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						TCCAGTGGGGCCAGCACAGCC	0.627																																						.											0													140	140	140					6																	30954932		2203	4298	6501	SO:0001583	missense	394263			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.980C>T	6.37:g.30954932C>T	ENSP00000365473:p.Ala327Val		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344802	0.24426	.	.	ENSG00000204544	ENST00000376296	T	0.04119	3.7	4.03	1.23	0.21249	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46721	-0.9171	8	.	.	.	-0.5435	6.5251	0.22297	0.0:0.5892:0.0:0.4108	.	327	Q5SSG8	MUC21_HUMAN	V	327	ENSP00000365473:A327V	.	A	+	2	0	MUC21	31062911	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.017000	0.13399	0.245000	0.21373	-0.216000	0.12614	GCC		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30954932	C	T	30954932	3	4	10	1	0	0	0	0	1	0	0	0	9977	739	26	3	986	3	MUC21	6	30954932	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	65468	30954932	140160135	27	740											
HLA-DRB1	3123	mdanderson.org	37	chr6	32551996	32551996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctgttccagtactcaGcgtcaggccgccccagctcc	5	9	10	17	2	3	0	2	0	1	0	5	0	5	0	5	2	3	4	5	2	1	2	rs1059584	byFrequency	TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:32551996G>T	ENST00000360004.5	-	2	365	c.260C>A	c.(259-261)gCt>gAt	p.A87D		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	87	Beta-1.				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)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CCAGTACTCAGCGTCAGGCCG	0.627										Multiple Myeloma(14;0.17)			G|||	412	0.0822684	0.1445	0.0663	5008	,	,		7448	0.0427		0.0885	False		,,,				2504	0.044					.											0													37	40	39					6																	32551996		2186	4282	6468	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.260C>A	6.37:g.32551996G>T	ENSP00000353099:p.Ala87Asp		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815741	0.50527	.	.	ENSG00000196126	ENST00000360004	T	0.00420	7.47	3.52	2.62	0.31277	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	0.288263	0.31554	N	0.007451	T	0.01092	0.0036	H	0.99357	4.53	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.38067	-0.9678	10	0.87932	D	0	.	9.9904	0.41868	0.0:0.0:0.7957:0.2042	rs1059584;rs1059585;rs2308717;rs17886576;rs35220740	87	P01911	2B1F_HUMAN	D	87	ENSP00000353099:A87D	ENSP00000353099:A87D	A	-	2	0	HLA-DRB1	32659974	0.396000	0.25262	0.002000	0.10522	0.002000	0.02628	3.831000	0.55776	0.790000	0.33803	0.453000	0.30009	GCT		0.627	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32551996	G	T	32551996	3	4	10	1	0	0	0	0	1	0	0	0	7208	971	34	5	560	5	HLA-DRB1	6	32551996	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	1597064	32551996	138563071	28	741											
KIAA0408	9729	bcgsc.ca	37	chr6	127771252	127771253	+	Frame_Shift_Ins	INS	-	-	T																															ccaaaaaccctacttttgatINSttttttgttgctttttgttc																								rs370114599		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:127771252_127771253insT	ENST00000483725.3	-	3	716_717	c.380_381insA	c.(379-381)aaafs	p.K127fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	127										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTACTTTTGATTTTTTTGTTGC	0.416																																						.											0																																										SO:0001589	frameshift_variant	9729			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.382dupA	6.37:g.127771258_127771258dupT	ENSP00000435150:p.Lys127fs		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	CCDS34531.1																																																																																				0.416	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		T	127771253	-	T	127771252	7	5	10	1	0	1	1	0	0	0	0	0	8174	1490	52	0	1719	0	KIAA0408	6	127771252	Frame_Shift_Ins	INS	-	TCGA-KL-8332-01A-11D-2310-10	95219256	127771252	43343815	29	742											
DLX6	1750	broad.mit.edu	37	chr7	96635389	96635391	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagcagcagcagcagcaaCagcagcagcagcagcagcag																								rs35478952		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr7:96635389_96635391delCAG	ENST00000518156.2	+	1	530_532	c.100_102delCAG	c.(100-102)cagdel	p.Q44del	DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					gcagcagcaacagcagcagcagc	0.68																																						.											0										71,2005		9,53,976						-0.1	1			6	237,4797		8,221,2288	no	coding	DLX6	NM_005222.3		17,274,3264	A1A1,A1R,RR		4.708,3.42,4.3319				308,6802				SO:0001651	inframe_deletion	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.100_102delCAG	7.37:g.96635398_96635400delCAG	ENSP00000428480:p.Gln44del		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	CCDS47647.2																																																																																				0.68	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		-	96635391	CAG	-	96635389	7	5	10	1	0	1	0	1	0	0	0	0	4575	479	17	0	102	0	DLX6	7	96635389	In_Frame_Del	DEL	CAG	TCGA-KL-8332-01A-11D-2310-10		96635389	62503274	30	743											
MLL3	58508	mdanderson.org	37	chr7	151932923	151932923	+	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	ccaggtaatacaacagctccGattccacttttcagctttga	11	12	6	12	1	1	1	1	1	0	0	3	2	3	1	3	1	4	3	3	1	3	6			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr7:151932923G>A	ENST00000262189.6	-	16	2966	c.2748C>T	c.(2746-2748)atC>atT	p.I916I	KMT2C_ENST00000355193.2_Silent_p.I916I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	916					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)										CAACAGCTCCGATTCCACTTT	0.478																																						.											0													74	67	69					7																	151932923		2202	4284	6486	SO:0001819	synonymous_variant	58508			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.2748C>T	7.37:g.151932923G>A			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045395	0.19748	.	.	ENSG00000055609	ENST00000418673	.	.	.	5.0	-5.63	0.02474	.	.	.	.	.	T	0.48003	0.1476	.	.	.	0.54753	D	0.999984	.	.	.	.	.	.	T	0.48198	-0.9056	4	.	.	.	.	7.2844	0.26330	0.4461:0.1266:0.4273:0.0	.	.	.	.	W	72	.	.	R	-	1	2	MLL3	151563856	0.145000	0.22656	0.658000	0.29665	0.991000	0.79684	-0.279000	0.08479	-1.230000	0.02561	-0.225000	0.12378	CGG		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151932923	G	A	151932923	2	1	10	1	0	0	0	0	0	0	0	1	9622	1048	37	1		1	MLL3	7	151932923	Silent	SNP	G	TCGA-KL-8332-01A-11D-2310-10	55297534	151932923	7205740	31	744											
PTPDC1	138639	ucsc.edu	37	chr9	96857597	96857597	+	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	ttttccttttcttttttcctAgtttacttctacaatttcgg	5	24	3	9	1	2	0	0	0	2	0	5	0	4	0	2	1	2	1	2	1	4	13			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr9:96857597A>G	ENST00000375360.3	+	6	794		c.e6-1		PTPDC1_ENST00000288976.3_Splice_Site	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTTTTCCTAGTTTACTTCT	0.358																																						.											0													115	119	118					9																	96857597		2203	4300	6503	SO:0001630	splice_region_variant	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.455-1A>G	9.37:g.96857597A>G			Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Splice_Site	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	13.20	2.166092	0.38217	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7685	0.69657	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPDC1	95897418	1.000000	0.71417	0.970000	0.41538	0.219000	0.24729	8.696000	0.91302	2.221000	0.72209	0.528000	0.53228	.		0.358	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	Intron	G	96857597	A	G	96857597	5	3	10	1	0	0	0	0	0	0	1	0	12773	434	15	2	713	2	PTPDC1	9	96857597	Splice_Site	SNP	A	TCGA-KL-8332-01A-11D-2310-10		96857597	44355834	32	745											
FAS	355	bcgsc.ca	37	chr10	90774008	90774008	+	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	gaatgacaatgtccaagacaCagcagaacagaaagttcaac	19	5	8	9	0	1	4	1	1	0	3	2	5	2	4	1	0	3	2	1	0	6	1	rs121913081		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr10:90774008C>T	ENST00000355740.2	+	9	1029	c.809C>T	c.(808-810)aCa>aTa	p.T270I	FAS_ENST00000357339.2_Missense_Mutation_p.T249I|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {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)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	GTCCAAGACACAGCAGAACAG	0.378																																						.											0			GRCh37	CD951864|CM991190|CM994523	FAS	D|M	rs121913081						129	120	123					10																	90774008		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.809C>T	10.37:g.90774008C>T	ENSP00000347979:p.Thr270Ile		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355740.2	37	CCDS7393.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315426	0.40996	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.85171	-1.95;-1.95	4.65	4.65	0.58169	Death (3);DEATH-like (2);	7.859800	0.00357	N	0.000033	D	0.92835	0.7721	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.958	T	0.81680	-0.0823	10	0.41790	T	0.15	-18.6218	13.767	0.63002	0.0:1.0:0.0:0.0	.	249;270	P25445-6;P25445	.;TNR6_HUMAN	I	297;270;249	ENSP00000347979:T270I;ENSP00000349896:T249I	ENSP00000347979:T270I	T	+	2	0	FAS	90763988	0.279000	0.24239	0.974000	0.42286	0.059000	0.15707	2.342000	0.43992	2.523000	0.85059	0.650000	0.86243	ACA		0.378	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049274.3			T	90774008	C	T	90774008	3	4	10	1	0	0	0	0	1	0	0	0	5681	478	17	4	843	4	FAS	10	90774008	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10		90774008	44760739	33	746											
CEND1	51286	ucsc.edu	37	chr11	788570	788570	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgacttccctctggActccatggtgggcggggcgt	3	10	16	12	2	1	1	0	1	1	0	3	2	3	2	2	6	0	2	2	6	0	1			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:788570A>G	ENST00000330106.4	-	2	182	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEND1_ENST00000524587.1_Intron	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	3					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		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;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)		TTCCCTCTGGACTCCATGGTG	0.667																																						.											0													52	67	62					11																	788570		2170	4253	6423	SO:0001583	missense	51286			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.7T>C	11.37:g.788570A>G	ENSP00000328336:p.Ser3Pro		Q9NYM6	Missense_Mutation	SNP	ENST00000330106.4	37	CCDS7714.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682094	0.68042	.	.	ENSG00000184524	ENST00000330106	.	.	.	4.63	1.98	0.26296	.	0.093185	0.44285	D	0.000462	T	0.52092	0.1713	L	0.29908	0.895	0.41335	D	0.987262	D	0.61080	0.989	P	0.58454	0.839	T	0.54536	-0.8279	9	0.87932	D	0	-11.3684	9.6985	0.40171	0.6721:0.3279:0.0:0.0	.	3	Q8N111	CEND_HUMAN	P	3	.	ENSP00000328336:S3P	S	-	1	0	CEND1	778570	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	1.336000	0.33850	0.685000	0.31468	0.379000	0.24179	TCC		0.667	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257105.1	NM_016564		G	788570	A	G	788570	3	3	10	1	0	0	0	0	1	0	0	0	3225	275	10	2	446	2	CEND1	11	788570	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10		788570	134217946	34	747											
MUC2	4583	mdanderson.org	37	chr11	1092973	1092973	+	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	cggtgaccccaaccccaacaCccaccggcacacagacccca	12	1	6	22	2	0	2	0	1	0	1	0	2	0	2	8	2	2	1	8	2	2	0	rs55847666		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:1092973C>T	ENST00000441003.2	+	30	4819	c.4792C>T	c.(4792-4794)Ccc>Tcc	p.P1598S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_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)		p.P1598S(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)	aaccccaacacccaccggcac	0.637																																						.											1	Substitution - Missense(1)	endometrium(1)											47	83	70					11																	1092973		1782	3238	5020	SO:0001583	missense	4583			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.4792C>T	11.37:g.1092973C>T	ENSP00000415183:p.Pro1598Ser		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.622	-0.077443	0.07184	.	.	ENSG00000198788	ENST00000441003	T	0.13778	2.56	1.75	-2.88	0.05682	.	.	.	.	.	T	0.04363	0.0120	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43686	-0.9376	8	0.07482	T	0.82	.	3.4241	0.07403	0.4105:0.429:0.0:0.1605	rs55847666	1598	E7EUV1	.	S	1598	ENSP00000415183:P1598S	ENSP00000415183:P1598S	P	+	1	0	MUC2	1082973	0.007000	0.16637	0.000000	0.03702	0.120000	0.20174	0.230000	0.17852	-0.314000	0.08716	0.121000	0.15741	CCC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092973	C	T	1092973	3	4	10	1	0	0	0	0	1	0	0	0	9975	507	18	3	4910	3	MUC2	11	1092973	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	304403	1092973	133913543	35	748											
MICALCL	84953	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	12316009	12316009	+	Missense_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	ccctcctgaccctgccctccGcacccacagtttgcccaatc	6	8	5	22	1	0	1	0	1	0	0	3	1	2	1	7	0	2	2	7	0	1	1	rs201723344		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:12316009G>A	ENST00000256186.2	+	3	1322	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	344					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)		CCTGCCCTCCGCACCCACAGT	0.552																																						.											0								G	HIS/ARG	0,3962		0,0,1981	79	88	85		1031	1.2	0	11		85	2,8300		0,2,4149	yes	missense	MICALCL	NM_032867.2	29	0,2,6130	AA,AG,GG		0.0241,0.0,0.0163	probably-damaging	344/696	12316009	2,12262	1981	4151	6132	SO:0001583	missense	84953			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.1031G>A	11.37:g.12316009G>A	ENSP00000256186:p.Arg344His		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511542	0.27036	0.0	2.41E-4	ENSG00000133808	ENST00000256186	T	0.12039	2.72	5.38	1.16	0.20824	.	0.325455	0.22417	N	0.060323	T	0.09202	0.0227	L	0.53249	1.67	0.09310	N	1	B	0.33841	0.428	B	0.20577	0.03	T	0.22034	-1.0228	10	0.38643	T	0.18	.	3.9085	0.09193	0.2706:0.0:0.5639:0.1656	.	344	Q6ZW33	MICLK_HUMAN	H	344	ENSP00000256186:R344H	ENSP00000256186:R344H	R	+	2	0	MICALCL	12272585	0.000000	0.05858	0.029000	0.17559	0.656000	0.38851	0.255000	0.18333	0.253000	0.21552	0.460000	0.39030	CGC		0.552	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		A	12316009	G	A	12316009	3	1	10	1	0	0	0	0	1	0	0	0	9572	1087	38	1	1037	1	MICALCL	11	12316009	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	11223036	12316009	122690507	36	749											
SLC1A2	6506	ucsc.edu	37	chr11	35338967	35338967	+	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	agattcttccccagcttgtcAcacaggcgcaggcccaggtg	8	8	11	14	1	2	1	1	0	1	1	3	1	3	1	3	3	1	2	3	3	0	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:35338967A>G	ENST00000278379.3	-	2	396	c.114T>C	c.(112-114)tgT>tgC	p.C38C	SLC1A2_ENST00000606205.1_Silent_p.C38C|SLC1A2_ENST00000395753.1_Silent_p.C29C|SLC1A2_ENST00000395750.1_Silent_p.C29C	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	38					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)			CCAGCTTGTCACACAGGCGCA	0.602																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	.											0													107	108	108					11																	35338967		2202	4298	6500	SO:0001819	synonymous_variant	6506			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.114T>C	11.37:g.35338967A>G			B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	CCDS31459.1																																																																																				0.602	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		G	35338967	A	G	35338967	2	3	10	1	0	0	0	0	0	0	0	1	14432	157	6	2		2	SLC1A2	11	35338967	Silent	SNP	A	TCGA-KL-8332-01A-11D-2310-10	23022958	35338967	99667549	37	750											
FOLH1	2346	mdanderson.org	37	chr11	49204732	49204732	+	Missense_Mutation	SNP	T	T	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	ctgtgcatcatagtatccaaTtggatgaacaggaatacttg	13	12	9	7	0	1	1	1	1	0	0	2	3	2	3	1	2	3	2	1	2	6	5	rs199782232		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:49204732T>C	ENST00000256999.2	-	7	1149	c.889A>G	c.(889-891)Att>Gtt	p.I297V	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.I282V|FOLH1_ENST00000356696.3_Missense_Mutation_p.I297V|FOLH1_ENST00000533034.1_Missense_Mutation_p.I282V	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	297	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)	TAGTATCCAATTGGATGAACA	0.363																																						.											0													78	79	78					11																	49204732		2201	4298	6499	SO:0001583	missense	2346			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.889A>G	11.37:g.49204732T>C	ENSP00000256999:p.Ile297Val		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	7.025	0.559465	0.13436	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.76	1.59	0.23543	.	0.125811	0.35349	N	0.003276	T	0.50582	0.1624	M	0.78344	2.41	0.80722	D	1	B;B;B;B	0.20459	0.007;0.001;0.045;0.02	B;B;B;B	0.28139	0.046;0.018;0.086;0.035	T	0.47355	-0.9124	10	0.54805	T	0.06	.	6.1691	0.20406	0.0:0.1358:0.0:0.8642	.	282;282;297;297	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	V	297;297;282;282;297	ENSP00000256999:I297V;ENSP00000349129:I297V;ENSP00000344131:I282V;ENSP00000431463:I282V	ENSP00000256999:I297V	I	-	1	0	FOLH1	49161308	1.000000	0.71417	0.994000	0.49952	0.146000	0.21551	3.347000	0.52200	0.301000	0.22738	0.163000	0.16589	ATT		0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		C	49204732	T	C	49204732	3	2	10	1	0	0	0	0	1	0	0	0	5979	1493	52	4	1415	4	FOLH1	11	49204732	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	13865765	49204732	85801784	38	751											
OR5M3	219482	broad.mit.edu	37	chr11	56237919	56237919	+	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	gaagagaacttgccattctcGacggctcgttagccccaaaa	12	8	9	12	3	1	1	0	0	1	1	3	4	1	1	3	1	3	2	3	1	5	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:56237919G>A	ENST00000312240.2	-	1	95	c.55C>T	c.(55-57)Cga>Tga	p.R19*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	19						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)					TGCCATTCTCGACGGCTCGTT	0.403																																						.											0													80	70	74					11																	56237919		2201	4295	6496	SO:0001587	stop_gained	219482			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.55C>T	11.37:g.56237919G>A	ENSP00000312208:p.Arg19*		B2RNM7|Q6IEW4|Q96RC0	Nonsense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265447	0.23136	.	.	ENSG00000174937	ENST00000312240	.	.	.	5.0	1.8	0.24995	.	1.011540	0.07959	N	0.982069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	1.5831	7.0203	0.24910	0.0845:0.0:0.6007:0.3148	.	.	.	.	X	19	.	ENSP00000312208:R19X	R	-	1	2	OR5M3	55994495	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.043000	0.13971	0.462000	0.27095	0.478000	0.44815	CGA		0.403	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		A	56237919	G	A	56237919	4	1	10	1	0	0	0	0	0	1	0	0	11175	1066	37	1	870	1	OR5M3	11	56237919	Nonsense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	7033187	56237919	78768597	39	752											
FAT3	120114	broad.mit.edu	37	chr11	92531376	92531376	+	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	agaaggccctggattatgagCgcacatcctcttatcaactc	11	10	8	12	1	2	2	1	1	1	1	4	3	3	3	2	2	2	1	2	2	4	2	rs374615122		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:92531376C>T	ENST00000298047.6	+	9	5214	c.5197C>T	c.(5197-5199)Cgc>Tgc	p.R1733C	FAT3_ENST00000409404.2_Missense_Mutation_p.R1733C|FAT3_ENST00000525166.1_Missense_Mutation_p.R1583C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1733	Cadherin 15. {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)				GGATTATGAGCGCACATCCTC	0.403										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0	0	5008	,	,		21623	0		0	False		,,,				2504	0.001					.											0								C	CYS/ARG	0,3938		0,0,1969	91	88	89		5197	5.9	0.9	11		89	1,8341		0,1,4170	no	missense	FAT3	NM_001008781.2	180	0,1,6139	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	1733/4558	92531376	1,12279	1969	4171	6140	SO:0001583	missense	120114			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.5197C>T	11.37:g.92531376C>T	ENSP00000298047:p.Arg1733Cys		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	19.26	3.792567	0.70452	0.0	1.2E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52983	0.64;0.64;0.64	5.93	5.93	0.95920	.	.	.	.	.	T	0.55970	0.1954	M	0.81112	2.525	0.80722	D	1	D	0.55385	0.971	P	0.45138	0.471	T	0.62798	-0.6778	9	0.56958	D	0.05	.	15.0942	0.72220	0.1416:0.8584:0.0:0.0	.	1733	Q8TDW7-3	.	C	1733;1733;1583	ENSP00000298047:R1733C;ENSP00000387040:R1733C;ENSP00000432586:R1583C	ENSP00000298047:R1733C	R	+	1	0	FAT3	92171024	0.805000	0.28982	0.912000	0.35992	0.897000	0.52465	1.595000	0.36708	2.818000	0.97014	0.591000	0.81541	CGC		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92531376	C	T	92531376	3	4	10	1	0	0	0	0	1	0	0	0	5691	768	27	1	5231	1	FAT3	11	92531376	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	36293457	92531376	42475140	40	753											
LPAR5	57121	broad.mit.edu	37	chr12	6729661	6729663	+	In_Frame_Del	DEL	TGT	TGT	-																															cccgtagaccgccagcgtgcTgttgtagggcacgaagcaca																										TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:6729661_6729663delTGT	ENST00000329858.4	-	2	1508_1510	c.752_754delACA	c.(751-756)aacagc>agc	p.N251del	LPAR5_ENST00000431922.1_In_Frame_Del_p.N251del|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	251						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						GCCAGCGTGCTGTTGTAGGGCAC	0.7																																					NSCLC(74;891 2312 37538)	.											0																																										SO:0001651	inframe_deletion	57121			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.752_754delACA	12.37:g.6729664_6729666delTGT	ENSP00000327875:p.Asn251del			In_Frame_Del	DEL	ENST00000329858.4	37	CCDS8553.1																																																																																				0.7	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		-	6729663	TGT	-	6729661	7	5	10	1	0	1	0	1	0	0	0	0	8908	1580	55	0	368	0	LPAR5	12	6729661	In_Frame_Del	DEL	TGT	TCGA-KL-8332-01A-11D-2310-10		6729661	127122234	41	754											
HDAC7	51564	broad.mit.edu;hgsc.bcm.edu	37	chr12	48189416	48189416	+	Frame_Shift_Del	DEL	G	G	-																															gaggggtccaggaggagaatGggctgcaggcgagagggcaa																										TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:48189416delG	ENST00000427332.2	-	10	1080	c.924delC	c.(922-924)cccfs	p.P308fs	HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P330fs|HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P310fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P364fs|HDAC7_ENST00000080059.7_Frame_Shift_Del_p.P347fs			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	308	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|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 binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GGAGGAGAATGGGCTGCAGGC	0.677																																						.											0													15	17	17					12																	48189416		2166	4269	6435	SO:0001589	frameshift_variant	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.924delC	12.37:g.48189416delG	ENSP00000404394:p.Pro308fs		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Frame_Shift_Del	DEL	ENST00000427332.2	37																																																																																					0.677	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			-	48189416	G	-	48189416	7	5	10	1	0	1	0	1	0	0	0	0	7012	1335	47	0	2002	0	HDAC7	12	48189416	Frame_Shift_Del	DEL	G	TCGA-KL-8332-01A-11D-2310-10	41459755	48189416	85662479	42	755	21	2									
HDAC7	51564	bcgsc.ca	37	chr12	48189417	48189417	+	Frame_Shift_Del	DEL	G	G	-																															aggggtccaggaggagaatgGgctgcaggcgagagggcaag																										TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:48189417delG	ENST00000427332.2	-	10	1079	c.923delC	c.(922-924)cccfs	p.P308fs	HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P330fs|HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P310fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P364fs|HDAC7_ENST00000080059.7_Frame_Shift_Del_p.P347fs			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	308	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|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 binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GAGGAGAATGGGCTGCAGGCG	0.677																																						.											0													15	17	17					12																	48189417		2166	4271	6437	SO:0001589	frameshift_variant	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.923delC	12.37:g.48189417delG	ENSP00000404394:p.Pro308fs		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Frame_Shift_Del	DEL	ENST00000427332.2	37																																																																																					0.677	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			-	48189417	G	-	48189417	7	5	10	1	0	1	0	1	0	0	0	0	7012	1232	43	0	2003	0	HDAC7	12	48189417	Frame_Shift_Del	DEL	G	TCGA-KL-8332-01A-11D-2310-10	1	48189417	85662478	43	756	21	2									
TENC1	23371	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr12	53449591	53449591	+	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	aagggcaagcttggggtcatCgtttctgcctacatgcacta	9	11	11	10	1	2	0	1	0	1	0	3	0	2	0	1	3	4	4	1	3	4	4			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:53449591C>G	ENST00000314250.6	+	10	1013	c.723C>G	c.(721-723)atC>atG	p.I241M	TENC1_ENST00000451358.1_Missense_Mutation_p.I241M|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Missense_Mutation_p.I241M|TENC1_ENST00000314276.3_Missense_Mutation_p.I251M|TENC1_ENST00000549700.1_Missense_Mutation_p.I241M|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Missense_Mutation_p.I117M|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.I241M	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	241	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TTGGGGTCATCGTTTCTGCCT	0.597																																						.											0													206	194	198					12																	53449591		2203	4300	6503	SO:0001583	missense	23371			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	ENST00000314250.6:c.723C>G	12.37:g.53449591C>G	ENSP00000319684:p.Ile241Met		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418345	0.62622	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.2	2.34	0.29019	Phosphatase tensin type (1);	0.062030	0.64402	D	0.000006	D	0.96935	0.8999	N	0.05259	-0.085	0.43683	D	0.996128	D;D;D;D	0.89917	1.0;0.991;1.0;0.997	D;D;D;D	0.75484	0.968;0.957;0.986;0.98	D	0.95934	0.8941	10	0.87932	D	0	-3.0417	9.7567	0.40508	0.0:0.7503:0.0:0.2497	.	241;241;251;248	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	M	117;251;241;241;241;241;241;241	ENSP00000369232:I117M;ENSP00000319756:I251M;ENSP00000319684:I241M;ENSP00000393362:I241M;ENSP00000449363:I241M;ENSP00000447021:I241M;ENSP00000449361:I241M	ENSP00000319684:I241M	I	+	3	3	TENC1	51735858	0.939000	0.31865	1.000000	0.80357	0.936000	0.57629	0.049000	0.14099	0.710000	0.31997	-0.258000	0.10820	ATC		0.597	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		G	53449591	C	G	53449591	3	3	10	1	0	0	0	0	1	0	0	0	15755	874	31	5	870	5	TENC1	12	53449591	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	5260174	53449591	80402304	44	757											
TUBA3C	7278	broad.mit.edu	37	chr13	19751676	19751676	+	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	cgctccatgagcagagatgcGaacccagagccagtgccacc	11	4	11	15	2	0	3	0	1	0	2	1	5	1	3	5	0	5	2	5	0	1	0			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr13:19751676G>A	ENST00000400113.3	-	4	551	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	149					'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)		GCAGAGATGCGAACCCAGAGC	0.567																																						.											0													71	73	72					13																	19751676		2203	4300	6503	SO:0001819	synonymous_variant	7278			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.447C>T	13.37:g.19751676G>A			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		A	19751676	G	A	19751676	2	1	10	1	0	0	0	0	0	0	0	1	16743	1049	37	1		1	TUBA3C	13	19751676	Silent	SNP	G	TCGA-KL-8332-01A-11D-2310-10		19751676	95418202	45	758											
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-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr13:50235138T>G	ENST00000242827.6	-	4	637	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'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																																					NSCLC(39;857 1083 36109 42364 51411)	.											2	Substitution - Missense(2)	endometrium(2)											73	73	73					13																	50235138		2203	4300	6503	SO:0001583	missense	84650			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		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	10	1	0	0	0	0	1	0	0	0	4887	1580	55	5	37	5	EBPL	13	50235138	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	30483462	50235138	64934740	46	759											
OR11H12	440153	mdanderson.org	37	chr14	19378135	19378135	+	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	cattgttctcatctctcagaTgcccttctgtggcccaaaca	8	13	6	14	0	4	1	2	0	3	1	6	1	4	1	2	1	2	1	2	1	1	3	rs202226673		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr14:19378135T>A	ENST00000550708.1	+	1	614	c.542T>A	c.(541-543)aTg>aAg	p.M181K		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCTCAGATGCCCTTCTGT	0.478																																						.											0																																										SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.542T>A	14.37:g.19378135T>A	ENSP00000449002:p.Met181Lys			Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	t	8.805	0.933852	0.18206	.	.	ENSG00000257115	ENST00000550708	T	0.00115	8.71	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.284112	0.24580	N	0.037314	T	0.00144	0.0004	L	0.50333	1.59	0.25517	N	0.987402	P	0.40282	0.711	B	0.41646	0.362	T	0.36432	-0.9748	9	0.72032	D	0.01	.	5.5303	0.16980	0.0:1.0E-4:0.0:0.9999	.	181	B2RN74	O11HC_HUMAN	K	181	ENSP00000449002:M181K	ENSP00000449002:M181K	M	+	2	0	CR383656.1	18448135	0.130000	0.22417	0.951000	0.38953	0.105000	0.19272	3.659000	0.54489	0.518000	0.28383	0.055000	0.15244	ATG		0.478	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		A	19378135	T	A	19378135	3	1	10	1	0	0	0	0	1	0	0	0	10927	1464	51	5	544	5	OR11H12	14	19378135	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10		19378135	87971405	47	760											
DHRS4L2	317749	mdanderson.org	37	chr14	24464310	24464310	+	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	tcaaccctttctttggaagcCtaatggatgtcaccgaggag	10	11	10	10	1	3	0	2	0	1	0	3	4	3	3	3	3	2	0	3	3	3	3	rs61999853	byFrequency	TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr14:24464310C>A	ENST00000335125.6	+	3	502	c.376C>A	c.(376-378)Cta>Ata	p.L126I	DHRS4L2_ENST00000382755.4_Missense_Mutation_p.L124I|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.L126I|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.L25I|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.L126I|DHRS4L2_ENST00000558753.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	124						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTTTGGAAGCCTAATGGATGT	0.532																																						.											0													424	384	397					14																	24464310		2203	4300	6503	SO:0001583	missense	317749				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.376C>A	14.37:g.24464310C>A	ENSP00000334801:p.Leu126Ile		Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	CCDS9606.2	51	0.023351648351648352	13	0.026422764227642278	10	0.027624309392265192	8	0.013986013986013986	20	0.026385224274406333	-	0.017	-1.492049	0.01009	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.64	0.0778	0.14409	NAD(P)-binding domain (1);	0.297403	0.28895	N	0.013795	T	0.55114	0.1900	N	0.25380	0.74	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.51576	-0.8688	10	0.07325	T	0.83	.	7.8688	0.29554	0.5146:0.4044:0.0:0.081	rs61999853	124	Q6PKH6	DR4L2_HUMAN	I	25;126;126;126;124	ENSP00000380261:L126I;ENSP00000334801:L126I;ENSP00000437883:L126I;ENSP00000372203:L124I	ENSP00000334801:L126I	L	+	1	2	DHRS4L2	23534150	0.459000	0.25768	0.013000	0.15412	0.726000	0.41606	0.387000	0.20718	-0.358000	0.08162	-0.522000	0.04353	CTA		0.532	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			A	24464310	C	A	24464310	3	1	10	1	0	0	0	0	1	0	0	0	4494	680	24	5	386	5	DHRS4L2	14	24464310	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	5086175	24464310	82885230	48	761											
DCAF4	26094	ucsc.edu	37	chr14	73425508	73425508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttactgttactcctacAgctaattctgcagggcacag	10	12	7	12	0	1	0	0	0	1	0	2	0	2	0	2	1	5	4	2	1	4	6			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr14:73425508A>G	ENST00000358377.2	+	14	1703	c.1483A>G	c.(1483-1485)Agc>Ggc	p.S495G	DCAF4_ENST00000353777.3_Missense_Mutation_p.S325G|DCAF4_ENST00000555042.1_Missense_Mutation_p.S489G|DCAF4_ENST00000394234.2_Missense_Mutation_p.S395G|DCAF4_ENST00000509153.1_Missense_Mutation_p.S435G	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	495					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TTACTCCTACAGCTAATTCTG	0.562																																						.											0													39	46	43					14																	73425508		2201	4296	6497	SO:0001583	missense	26094			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1483A>G	14.37:g.73425508A>G	ENSP00000351147:p.Ser495Gly		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747798	0.30955	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042	T;T;T;T;T	0.68479	0.39;-0.33;-0.01;0.41;-0.01	4.92	3.73	0.42828	.	0.243282	0.46758	N	0.000269	T	0.51176	0.1659	N	0.22421	0.69	0.80722	D	1	B;B;B;P;B	0.49559	0.245;0.245;0.239;0.925;0.245	B;B;B;B;B	0.42062	0.118;0.08;0.167;0.374;0.08	T	0.54016	-0.8356	10	0.66056	D	0.02	.	9.8467	0.41032	0.914:0.0:0.086:0.0	.	435;474;489;325;495	B4DUT6;B4DN30;G3V522;Q86SY2;Q8WV16	.;.;.;.;DCAF4_HUMAN	G	495;325;395;435;489	ENSP00000351147:S495G;ENSP00000345176:S325G;ENSP00000377781:S395G;ENSP00000426178:S435G;ENSP00000452131:S489G	ENSP00000345176:S325G	S	+	1	0	DCAF4	72495261	1.000000	0.71417	0.566000	0.28421	0.027000	0.11550	3.391000	0.52530	0.857000	0.35407	-0.366000	0.07423	AGC		0.562	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		G	73425508	A	G	73425508	3	3	10	1	0	0	0	0	1	0	0	0	4270	188	7	2	1536	2	DCAF4	14	73425508	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	48961198	73425508	33924032	49	762											
RBBP6	5930	broad.mit.edu;hgsc.bcm.edu	37	chr16	24582960	24582960	+	Frame_Shift_Del	DEL	G	G	-																															agagagatttgcctaaaaaaGgaacaggagattccaaaaaa																										TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:24582960delG	ENST00000319715.4	+	18	5005	c.4573delG	c.(4573-4575)ggafs	p.G1525fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.G1491fs|RBBP6_ENST00000381039.3_Frame_Shift_Del_p.G685fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1525	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCCTAAAAAAGGAACAGGAGA	0.378																																						.											0													38	38	38					16																	24582960		2197	4297	6494	SO:0001589	frameshift_variant	5930				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.4573delG	16.37:g.24582960delG	ENSP00000317872:p.Gly1525fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	CCDS10621.1																																																																																				0.378	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		-	24582960	G	-	24582960	7	5	10	1	0	1	0	1	0	0	0	0	13103	1001	35	0	4697	0	RBBP6	16	24582960	Frame_Shift_Del	DEL	G	TCGA-KL-8332-01A-11D-2310-10		24582960	65771793	50	763	22	2									
RBBP6	5930	bcgsc.ca	37	chr16	24582961	24582961	+	Frame_Shift_Del	DEL	G	G	-																															gagagatttgcctaaaaaagGaacaggagattccaaaaaaa																										TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:24582961delG	ENST00000319715.4	+	18	5006	c.4574delG	c.(4573-4575)ggafs	p.G1525fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.G1491fs|RBBP6_ENST00000381039.3_Frame_Shift_Del_p.G685fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1525	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCTAAAAAAGGAACAGGAGAT	0.373																																						.											0													39	38	38					16																	24582961		2197	4297	6494	SO:0001589	frameshift_variant	5930				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.4574delG	16.37:g.24582961delG	ENSP00000317872:p.Gly1525fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	CCDS10621.1																																																																																				0.373	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		-	24582961	G	-	24582961	7	5	10	1	0	1	0	1	0	0	0	0	13103	1174	41	0	4698	0	RBBP6	16	24582961	Frame_Shift_Del	DEL	G	TCGA-KL-8332-01A-11D-2310-10	1	24582961	65771792	51	764	22	2									
ADCY7	113	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr16	50348998	50348998	+	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	tatgacatctggggaaacacTgtcaatgtggccagccgaat	12	9	11	9	1	2	1	1	1	1	0	2	3	2	2	2	3	2	0	2	3	4	1			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:50348998T>A	ENST00000394697.2	+	25	3385	c.3045T>A	c.(3043-3045)acT>acA	p.T1015T	ADCY7_ENST00000254235.3_Silent_p.T1015T			P51828	ADCY7_HUMAN	adenylate cyclase 7	1015	Guanylate cyclase 2. {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)		GGGGAAACACTGTCAATGTGG	0.483																																						.											0													115	117	116					16																	50348998		2198	4300	6498	SO:0001819	synonymous_variant	113			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.3045T>A	16.37:g.50348998T>A			A0AVA6	Silent	SNP	ENST00000394697.2	37	CCDS10741.1																																																																																				0.483	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			A	50348998	T	A	50348998	2	1	10	1	0	0	0	0	0	0	0	1	299	1567	55	5		5	ADCY7	16	50348998	Silent	SNP	T	TCGA-KL-8332-01A-11D-2310-10	25766037	50348998	40005755	52	765											
TSR1	55720	broad.mit.edu	37	chr17	2228035	2228035	+	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	atcttagtaaaaattttgaaAggatgaccactcagaacaac	18	10	6	7	0	2	3	1	2	1	1	2	4	2	4	1	1	2	1	1	1	7	4			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr17:2228035A>G	ENST00000301364.5	-	13	3188	c.2109T>C	c.(2107-2109)ccT>ccC	p.P703P	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	703					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AAATTTTGAAAGGATGACCAC	0.418																																						.											0													119	119	119					17																	2228035		2203	4300	6503	SO:0001819	synonymous_variant	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2109T>C	17.37:g.2228035A>G			Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	CCDS32525.1																																																																																				0.418	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		G	2228035	A	G	2228035	2	3	10	1	0	0	0	0	0	0	0	1	16661	59	3	2		2	TSR1	17	2228035	Silent	SNP	A	TCGA-KL-8332-01A-11D-2310-10		2228035	78967175	53	766											
FAM20A	54757	ucsc.edu	37	chr17	66538262	66538262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagacagcatactccgTcttgcacatgtatggacact	11	9	8	13	1	1	1	0	0	1	1	2	2	2	2	2	1	3	3	2	1	2	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr17:66538262T>C	ENST00000592554.1	-	7	1695	c.973A>G	c.(973-975)Acg>Gcg	p.T325A	PRKAR1A_ENST00000588188.2_Intron|AC079210.1_ENST00000600820.1_5'Flank|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	325					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GCATACTCCGTCTTGCACATG	0.602																																						.											0													111	85	94					17																	66538262		2203	4300	6503	SO:0001583	missense	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.973A>G	17.37:g.66538262T>C	ENSP00000468308:p.Thr325Ala		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469067	0.84533	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.87758	2.905	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	D	0.85708	0.1317	9	0.62326	D	0.03	-33.4943	16.5885	0.84745	0.0:0.0:0.0:1.0	.	325	Q96MK3	FA20A_HUMAN	A	325	.	ENSP00000226094:T325A	T	-	1	0	FAM20A	64049857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.850000	0.69473	2.317000	0.78254	0.460000	0.39030	ACG		0.602	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		C	66538262	T	C	66538262	3	2	10	1	0	0	0	0	1	0	0	0	5537	1667	58	2	672	2	FAM20A	17	66538262	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	64310227	66538262	14656948	54	767											
TMEM104	54868	ucsc.edu	37	chr17	72787131	72787131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccgtttgaaatcacagAccgggtggaaatgggacaaa	15	6	11	9	2	1	2	1	1	0	1	1	4	1	4	2	3	1	1	2	3	4	1			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr17:72787131A>G	ENST00000335464.5	+	6	545	c.383A>G	c.(382-384)gAc>gGc	p.D128G	TMEM104_ENST00000582330.1_Missense_Mutation_p.D128G|TMEM104_ENST00000582773.1_Missense_Mutation_p.D128G|TMEM104_ENST00000417024.2_Missense_Mutation_p.D141G	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	128						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GAAATCACAGACCGGGTGGAA	0.527																																						.											0													110	81	90					17																	72787131		2203	4300	6503	SO:0001583	missense	54868			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.383A>G	17.37:g.72787131A>G	ENSP00000334849:p.Asp128Gly		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044754	0.55110	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	T;T	0.45668	1.51;0.89	5.15	4.07	0.47477	.	0.098626	0.64402	D	0.000002	T	0.40322	0.1112	L	0.48642	1.525	0.48830	D	0.999714	P;P;B	0.45672	0.864;0.769;0.196	P;B;B	0.46362	0.514;0.275;0.165	T	0.10567	-1.0624	10	0.30078	T	0.28	-33.1063	10.796	0.46461	0.9252:0.0:0.0748:0.0	.	141;128;128	B4DKL7;Q8NE00-2;Q8NE00	.;.;TM104_HUMAN	G	128;141	ENSP00000334849:D128G;ENSP00000397676:D141G	ENSP00000334849:D128G	D	+	2	0	TMEM104	70298726	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.568000	0.90741	0.915000	0.36847	0.397000	0.26171	GAC		0.527	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		G	72787131	A	G	72787131	3	3	10	1	0	0	0	0	1	0	0	0	16015	275	10	2	401	2	TMEM104	17	72787131	Missense_Mutation	SNP	A	TCGA-KL-8332-01A-11D-2310-10	6248869	72787131	8408079	55	768											
TCEB3C	162699	bcgsc.ca	37	chr18	44555274	44555274	+	Missense_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	catcttagcgttcactctgcGtccagggaaagcagcttcct	8	11	9	13	2	3	0	1	0	2	0	5	1	5	1	2	1	4	3	2	1	2	3			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr18:44555274G>A	ENST00000330682.2	-	1	1175	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	314	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCACTCTGCGTCCAGGGAAA	0.637																																						.											0													251	258	256					18																	44555274		1909	3726	5635	SO:0001583	missense	162699			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.940C>T	18.37:g.44555274G>A	ENSP00000328232:p.Arg314Cys			Missense_Mutation	SNP	ENST00000330682.2	37	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	8.358	0.832394	0.16820	.	.	ENSG00000183791	ENST00000330682	T	0.15487	2.42	1.1	-2.21	0.06973	.	1.173820	0.06346	N	0.708878	T	0.07863	0.0197	L	0.29908	0.895	0.19300	N	0.999974	D	0.57899	0.981	B	0.26094	0.066	T	0.21655	-1.0239	10	0.59425	D	0.04	-0.3943	4.3463	0.11134	0.0:0.454:0.316:0.2301	.	314	Q8NG57	ELOA3_HUMAN	C	314	ENSP00000328232:R314C	ENSP00000328232:R314C	R	-	1	0	TCEB3C	42809272	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.162000	0.16501	-2.006000	0.00958	-1.780000	0.00649	CGC		0.637	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		A	44555274	G	A	44555274	3	1	10	1	0	0	0	0	1	0	0	0	15680	1145	40	1	2347	1	TCEB3C	18	44555274	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10		44555274	33521974	56	769											
PLIN4	729359	mdanderson.org	37	chr19	4511494	4511494	+	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	cagacagtgtccttggtaccGgtcagcacggtcttggccgt	6	10	13	12	3	2	1	1	0	1	1	3	1	3	1	3	4	2	2	3	4	1	3	rs201001883		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr19:4511494G>A	ENST00000301286.3	-	3	2435	c.2436C>T	c.(2434-2436)acC>acT	p.T812T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	812	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCTTGGTACCGGTCAGCACGG	0.602																																						.											0													97	128	118					19																	4511494		2078	4204	6282	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2436C>T	19.37:g.4511494G>A			A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4511494	G	A	4511494	2	1	10	1	0	0	0	0	0	0	0	1	12092	1103	39	1		1	PLIN4	19	4511494	Silent	SNP	G	TCGA-KL-8332-01A-11D-2310-10		4511494	54617489	57	770											
PLCB1	23236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	8770880	8770880	+	Missense_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	agagaaacacaaggaaatacGtcagcagatcctggatgaaa	19	5	10	7	1	1	3	1	1	0	2	2	6	2	5	1	2	3	1	1	2	5	1			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr20:8770880G>A	ENST00000338037.6	+	31	3422	c.3395G>A	c.(3394-3396)cGt>cAt	p.R1132H	PLCB1_ENST00000378637.2_Missense_Mutation_p.R1132H|PLCB1_ENST00000378641.3_Missense_Mutation_p.R1132H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1132					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						AAGGAAATACGTCAGCAGATC	0.338																																						.											0													64	64	64					20																	8770880		2203	4300	6503	SO:0001583	missense	23236			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.3395G>A	20.37:g.8770880G>A	ENSP00000338185:p.Arg1132His		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848790	0.91277	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000437439	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.98	5.98	0.97165	PLC-beta, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63957	0.86;0.92	T	0.49322	-0.8952	10	0.40728	T	0.16	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1132;1132	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	H	1132;1132;1132;1052;1052;19	ENSP00000367908:R1132H;ENSP00000338185:R1132H;ENSP00000367904:R1132H;ENSP00000389911:R19H	ENSP00000338185:R1132H	R	+	2	0	PLCB1	8718880	1.000000	0.71417	0.559000	0.28332	0.988000	0.76386	6.710000	0.74670	2.835000	0.97688	0.650000	0.86243	CGT		0.338	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			A	8770880	G	A	8770880	3	1	10	1	0	0	0	0	1	0	0	0	12027	1145	40	1	3517	1	PLCB1	20	8770880	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10		8770880	54254640	58	771											
COL20A1	57642	ucsc.edu	37	chr20	61950862	61950862	+	Missense_Mutation	SNP	T	T	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	ggaagaagtccctgacctacTtccaccgtgaccccagggct	9	7	10	15	1	0	3	0	2	0	1	2	4	2	4	6	2	1	1	6	2	3	2			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr20:61950862T>C	ENST00000358894.6	+	23	2930	c.2830T>C	c.(2830-2832)Ttc>Ctc	p.F944L	COL20A1_ENST00000326996.6_Missense_Mutation_p.F944L|COL20A1_ENST00000435874.1_Missense_Mutation_p.F951L|COL20A1_ENST00000422202.1_Missense_Mutation_p.F951L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	944	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)					CCTGACCTACTTCCACCGTGA	0.637																																						.											0													27	30	29					20																	61950862		1985	4152	6137	SO:0001583	missense	57642			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.2830T>C	20.37:g.61950862T>C	ENSP00000351767:p.Phe944Leu		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183948	0.57800	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.12	4.12	0.48240	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.061074	0.64402	D	0.000003	T	0.46833	0.1413	M	0.82323	2.585	0.44380	D	0.997287	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.989	T	0.51841	-0.8654	10	0.87932	D	0	.	10.6802	0.45811	0.0:0.0:0.0:1.0	.	951;944	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	944;944;951;951;47	ENSP00000351767:F944L;ENSP00000323077:F944L;ENSP00000408690:F951L;ENSP00000414753:F951L;ENSP00000410799:F47L	ENSP00000323077:F944L	F	+	1	0	COL20A1	61421307	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	3.596000	0.54024	1.512000	0.48834	0.260000	0.18958	TTC		0.637	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		C	61950862	T	C	61950862	3	2	10	1	0	0	0	0	1	0	0	0	3679	1609	56	2	2916	2	COL20A1	20	61950862	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10	53179982	61950862	1074658	59	772											
BRWD1	54014	bcgsc.ca	37	chr21	40649185	40649185	+	Missense_Mutation	SNP	T	T	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	gtggatgcttacagtgtggcTttcaagttctgcgatttttt	6	18	11	6	1	2	0	1	0	1	0	2	2	2	1	0	2	3	3	0	2	2	6			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr21:40649185T>C	ENST00000333229.2	-	11	1423	c.1096A>G	c.(1096-1098)Agc>Ggc	p.S366G	BRWD1_ENST00000342449.3_Missense_Mutation_p.S366G|BRWD1_ENST00000380800.3_Missense_Mutation_p.S366G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	366					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)				ACAGTGTGGCTTTCAAGTTCT	0.343																																					Melanoma(170;988 1986 4794 16843 39731)	.											0													82	79	80					21																	40649185		2203	4300	6503	SO:0001583	missense	54014			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.1096A>G	21.37:g.40649185T>C	ENSP00000330753:p.Ser366Gly		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.093|9.093	1.002321|1.002321	0.19121|0.19121	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000455867|ENST00000333229;ENST00000342449;ENST00000380800	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.071818	.|0.56097	.|D	.|0.000021	T|T	0.30039|0.30039	0.0752|0.0752	N|N	0.01405|0.01405	-0.89|-0.89	0.80722|0.80722	D|D	1|1	.|P;D;B	.|0.53619	.|0.906;0.961;0.217	.|P;P;B	.|0.62813	.|0.629;0.907;0.121	T|T	0.41324|0.41324	-0.9515|-0.9515	5|10	.|0.40728	.|T	.|0.16	-5.8987|-5.8987	9.1131|9.1131	0.36741|0.36741	0.0:0.0826:0.0:0.9174|0.0:0.0826:0.0:0.9174	.|.	.|77;366;366	.|Q5R2U6;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	R|G	77|366	.|ENSP00000330753:S366G;ENSP00000344333:S366G;ENSP00000370178:S366G	.|ENSP00000330753:S366G	K|S	-|-	2|1	0|0	BRWD1|BRWD1	39571055|39571055	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.785000|1.785000	0.38684|0.38684	1.878000|1.878000	0.54408|0.54408	0.482000|0.482000	0.46254|0.46254	AAG|AGC		0.343	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		C	40649185	T	C	40649185	3	2	10	1	0	0	0	0	1	0	0	0	1525	1609	56	2	6233	2	BRWD1	21	40649185	Missense_Mutation	SNP	T	TCGA-KL-8332-01A-11D-2310-10		40649185	7480710	60	773											
BPIL2	254240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	32831775	32831775	+	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	aagaaatactcggcgattccAatgtagagcatggagttgct	13	10	11	7	2	0	2	0	0	0	2	2	4	1	3	1	2	3	4	1	2	5	4			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr22:32831775A>T	ENST00000397452.1	-	9	950	c.840T>A	c.(838-840)atT>atA	p.I280I	BPIFC_ENST00000432451.2_Silent_p.I94I|BPIFC_ENST00000534972.1_Silent_p.I4I|BPIFC_ENST00000300399.3_Silent_p.I280I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	280						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CGGCGATTCCAATGTAGAGCA	0.498																																						.											0													84	88	87					22																	32831775		2203	4300	6503	SO:0001819	synonymous_variant	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.840T>A	22.37:g.32831775A>T			A2RRF1	Silent	SNP	ENST00000397452.1	37	CCDS13906.1																																																																																				0.498	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		T	32831775	A	T	32831775	2	4	10	1	0	0	0	0	0	0	0	1	1492	126	5	5		5	BPIL2	22	32831775	Silent	SNP	A	TCGA-KL-8332-01A-11D-2310-10		32831775	18472791	61	774											
RPGR	6103	broad.mit.edu	37	chrX	38145423	38145423	+	Intron	DEL	A	A	-																															tcttccccctccccttctccAtcctccccttccccttctcc																								rs201655057		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:38145423delA	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Frame_Shift_Del_p.D943fs|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_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						ccccttctccatcctcccctt	0.612																																						.											0													6	4	4					X																	38145423		1681	3119	4800	SO:0001627	intron_variant	6103			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+923T>-	X.37:g.38145423delA			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Del	DEL	ENST00000339363.3	37																																																																																					0.612	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		-	38145423	A	-	38145423	6	5	10	0	1	1	0	1	0	0	0	0	13548	214	8	0		0	RPGR	23	38145423	Intron	DEL	A	TCGA-KL-8332-01A-11D-2310-10		38145423	117125137	62	775											
MAGEC1	9947	broad.mit.edu	37	chrX	140994357	140994357	+	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	tccactttactgagtcttttCcagagttcccctgagagaac	9	13	7	12	0	1	4	0	2	1	2	4	5	4	4	4	0	2	1	4	0	2	5			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:140994357C>A	ENST00000285879.4	+	4	1453	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	389										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)					TGAGTCTTTTCCAGAGTTCCC	0.488										HNSCC(15;0.026)																												.											0													103	112	109					X																	140994357		2203	4294	6497	SO:0001583	missense	9947			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.1167C>A	X.37:g.140994357C>A	ENSP00000285879:p.Phe389Leu		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	2.057	-0.416395	0.04766	.	.	ENSG00000155495	ENST00000285879	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	0.999999	B	0.17667	0.023	B	0.09377	0.004	T	0.46555	-0.9183	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	389	O60732	MAGC1_HUMAN	L	389	ENSP00000285879:F389L	ENSP00000285879:F389L	F	+	3	2	MAGEC1	140822023	0.064000	0.20934	0.054000	0.19295	0.054000	0.15201	0.203000	0.17315	0.148000	0.19059	0.150000	0.16122	TTC		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994357	C	A	140994357	3	1	10	1	0	0	0	0	1	0	0	0	9180	854	30	5	1173	5	MAGEC1	23	140994357	Missense_Mutation	SNP	C	TCGA-KL-8332-01A-11D-2310-10	102848934	140994357	14276203	63	776											
PNMA5	114824	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	152159197	152159197	+	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	cattaactccagaaaattggGaggacaccctcgctgatcca	13	8	8	12	1	0	2	0	1	0	1	3	4	2	4	3	2	1	1	3	2	3	2			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:152159197G>A	ENST00000439251.1	-	2	1384	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	PNMA5_ENST00000535214.1_Missense_Mutation_p.P316S|PNMA5_ENST00000452693.1_Missense_Mutation_p.P316S|PNMA5_ENST00000361887.5_Missense_Mutation_p.P316S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	316					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)					AGAAAATTGGGAGGACACCCT	0.532																																						.											0													36	37	37					X																	152159197		2203	4300	6503	SO:0001583	missense	114824			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.946C>T	X.37:g.152159197G>A	ENSP00000388850:p.Pro316Ser		B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.579632	0.65992	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.07	3.07	0.35406	.	.	.	.	.	T	0.64853	0.2636	M	0.84948	2.725	0.20074	N	0.999937	D	0.89917	1.0	D	0.97110	1.0	T	0.52019	-0.8631	9	0.72032	D	0.01	.	8.8853	0.35400	0.0:0.0:1.0:0.0	.	316	Q96PV4	PNMA5_HUMAN	S	316	ENSP00000354834:P316S;ENSP00000445775:P316S;ENSP00000388850:P316S;ENSP00000392342:P316S	ENSP00000354834:P316S	P	-	1	0	PNMA5	151909853	0.970000	0.33590	0.113000	0.21522	0.434000	0.31775	3.652000	0.54439	1.830000	0.53286	0.287000	0.19450	CCC		0.532	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		A	152159197	G	A	152159197	3	1	10	1	0	0	0	0	1	0	0	0	12156	1174	41	3	404	3	PNMA5	23	152159197	Missense_Mutation	SNP	G	TCGA-KL-8332-01A-11D-2310-10	11164840	152159197	3111363	64	777											
AK2	204	mdanderson.org	37	chr1	33478931	33478931	+	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	gagtggggtggtttgagtgtGgtaggcttgcaggcggattt	5	13	20	3	1	0	1	0	1	0	0	0	3	0	2	0	7	1	4	0	7	1	4	rs80324279		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:33478931G>C	ENST00000373449.2	-	6	612	c.571C>G	c.(571-573)Cac>Gac	p.H191D	AK2_ENST00000491241.1_5'Flank|AK2_ENST00000467905.1_Missense_Mutation_p.H191D|AK2_ENST00000548033.1_Missense_Mutation_p.H149D|AK2_ENST00000354858.6_Missense_Mutation_p.H191D|AK2_ENST00000480134.1_3'UTR|RP1-117O3.2_ENST00000427524.1_RNA	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)				GTTTGAGTGTGGTAGGCTTGC	0.527																																						.											0													113	105	108					1																	33478931		2203	4300	6503	SO:0001583	missense	204			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.571C>G	1.37:g.33478931G>C	ENSP00000362548:p.His191Asp			Missense_Mutation	SNP	ENST00000373449.2	37	CCDS373.1	575	0.2632783882783883	164	0.3333333333333333	100	0.27624309392265195	109	0.19055944055944055	202	0.26649076517150394	G	18.15	3.558980	0.65538	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	M	0.75264	2.295	0.80722	D	1	P;D;P;P	0.65815	0.625;0.995;0.856;0.625	B;P;P;B	0.60473	0.368;0.875;0.501;0.368	T	0.00021	-1.2347	10	0.87932	D	0	-12.0924	19.5674	0.95401	0.0:0.0:1.0:0.0	.	183;149;191;191	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	D	191;149;191;191	ENSP00000362548:H191D;ENSP00000449003:H149D;ENSP00000447082:H191D;ENSP00000346921:H191D	ENSP00000346921:H191D	H	-	1	0	AK2	33251518	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	9.827000	0.99397	2.793000	0.96121	0.563000	0.77884	CAC		0.527	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		C	33478931	G	C	33478931	3	2	11	1	0	0	0	0	1	0	0	0	440	1348	47	5	161	5	AK2	1	33478931	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10		33478931	215771690	1	778			1	7		2	2	53	G		9.742152e-05
AK2	204	mdanderson.org	37	chr1	33478983	33478983	+	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	tcattatcatctgatcgacgGatcaagggttccccggtgat	9	12	10	10	3	4	2	3	2	1	0	6	4	5	3	2	3	0	1	2	3	2	2	rs79403800		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:33478983G>A	ENST00000373449.2	-	6	560	c.519C>T	c.(517-519)atC>atT	p.I173I	AK2_ENST00000491241.1_5'Flank|AK2_ENST00000467905.1_Silent_p.I173I|AK2_ENST00000548033.1_Silent_p.I131I|AK2_ENST00000354858.6_Silent_p.I173I|AK2_ENST00000480134.1_3'UTR|RP1-117O3.2_ENST00000427524.1_RNA	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)				CTGATCGACGGATCAAGGGTT	0.483																																						.											0													58	55	56					1																	33478983		2203	4300	6503	SO:0001819	synonymous_variant	204			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.519C>T	1.37:g.33478983G>A				Silent	SNP	ENST00000373449.2	37	CCDS373.1																																																																																				0.483	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		A	33478983	G	A	33478983	2	1	11	1	0	0	0	0	0	0	0	1	440	1164	41	3		3	AK2	1	33478983	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	52	33478983	215771638	2	779			1	7		2	2	53	G		9.742152e-05
MAP7D1	55700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	36643614	36643614	+	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	cactgcatcccccaaggggcGggttcggaggaaggaggagg	9	4	18	10	2	0	0	0	0	0	0	2	4	1	4	2	8	1	2	2	8	2	1			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:36643614G>A	ENST00000373151.2	+	9	1736	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	MAP7D1_ENST00000373150.4_Missense_Mutation_p.R475Q|MAP7D1_ENST00000373148.4_Missense_Mutation_p.R53Q|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R470Q	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	507	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCCAAGGGGCGGGTTCGGAGG	0.692																																						.											0													40	43	42					1																	36643614		2203	4300	6503	SO:0001583	missense	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1520G>A	1.37:g.36643614G>A	ENSP00000362244:p.Arg507Gln		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914600	0.33815	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.04	4.13	0.48395	.	0.415672	0.17946	N	0.156694	T	0.61837	0.2379	M	0.62723	1.935	0.33900	D	0.638424	B;D;B;B;D	0.76494	0.062;0.999;0.013;0.013;0.999	B;D;B;B;D	0.72625	0.01;0.978;0.005;0.003;0.978	T	0.70371	-0.4890	10	0.49607	T	0.09	-8.286	9.1503	0.36959	0.0989:0.0:0.9011:0.0	.	53;507;470;475;507	Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;.;.;MA7D1_HUMAN	Q	470;475;507;53	ENSP00000320228:R470Q;ENSP00000362243:R475Q;ENSP00000362244:R507Q;ENSP00000362241:R53Q	ENSP00000320228:R470Q	R	+	2	0	MAP7D1	36416201	1.000000	0.71417	0.875000	0.34327	0.002000	0.02628	4.004000	0.57068	1.344000	0.45657	0.655000	0.94253	CGG		0.692	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		A	36643614	G	A	36643614	3	1	11	1	0	0	0	0	1	0	0	0	9267	1116	39	1	1554	1	MAP7D1	1	36643614	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10	3164631	36643614	212607007	3	780											
MYBPHL	343263	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr1	109840181	109840181	+	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	ccccattccgcacactcacaCgcctggtgtccaaggcacag	9	6	8	18	2	1	0	1	0	0	0	3	0	3	0	5	2	0	2	5	2	1	1			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:109840181C>T	ENST00000357155.1	-	3	342	c.293G>A	c.(292-294)cGt>cAt	p.R98H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	98	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CACACTCACACGCCTGGTGTC	0.587																																						.											0													89	80	83					1																	109840181		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.293G>A	1.37:g.109840181C>T	ENSP00000349678:p.Arg98His		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355964	0.24598	.	.	ENSG00000221986	ENST00000357155	T	0.52057	0.68	4.63	2.76	0.32466	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41050	0.1142	L	0.48260	1.515	0.19300	N	0.999975	D;B	0.89917	1.0;0.013	D;B	0.69824	0.966;0.012	T	0.09930	-1.0652	9	0.44086	T	0.13	.	5.9414	0.19196	0.0:0.7081:0.0:0.2919	.	98;98	B7ZME5;A2RUH7	.;MBPHL_HUMAN	H	98	ENSP00000349678:R98H	ENSP00000349678:R98H	R	-	2	0	MYBPHL	109641704	0.000000	0.05858	0.940000	0.37924	0.691000	0.40173	0.219000	0.17641	1.320000	0.45209	0.655000	0.94253	CGT		0.587	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		T	109840181	C	T	109840181	3	4	11	1	0	0	0	0	1	0	0	0	10015	536	19	1	795	1	MYBPHL	1	109840181	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	73196567	109840181	139410440	4	781											
USP21	27005	broad.mit.edu	37	chr1	161132827	161132827	+	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	gtccagttccctctccacccCgccgaggaggggctctgcta	5	8	11	17	2	2	0	0	0	2	0	5	2	4	1	6	3	1	3	6	3	1	2	rs148729808	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:161132827C>T	ENST00000289865.8	+	6	1233	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	USP21_ENST00000368001.1_Missense_Mutation_p.R338C|USP21_ENST00000368002.3_Missense_Mutation_p.R338C	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	338	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTCTCCACCCCGCCGAGGAGG	0.557																																						.											0								C	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	82	89	86		1012,1012	0.5	0.3	1	dbSNP_134	86	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	USP21	NM_001014443.2,NM_012475.4	180,180	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	probably-damaging,probably-damaging	338/566,338/566	161132827	9,12997	2203	4300	6503	SO:0001583	missense	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1012C>T	1.37:g.161132827C>T	ENSP00000289865:p.Arg338Cys		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535267	0.27475	6.81E-4	6.98E-4	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.16324	2.52;2.52;2.35	4.72	0.51	0.16983	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.04815	0.0130	L	0.46670	1.46	0.33260	D	0.559581	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	9	0.48119	T	0.1	.	3.6427	0.08173	0.1724:0.5373:0.0:0.2904	.	338	Q9UK80	UBP21_HUMAN	C	338	ENSP00000356981:R338C;ENSP00000289865:R338C;ENSP00000356980:R338C	ENSP00000289865:R338C	R	+	1	0	USP21	159399451	0.473000	0.25878	0.291000	0.24904	0.711000	0.40976	0.033000	0.13754	0.217000	0.20800	-0.463000	0.05309	CGC		0.557	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			T	161132827	C	T	161132827	3	4	11	1	0	0	0	0	1	0	0	0	17050	652	23	1	1030	1	USP21	1	161132827	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	51292646	161132827	88117794	5	782											
OR2M2	391194	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	248343636	248343636	+	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	ctgaatgttttcttttggctGttatggcttatgaccgctat	6	19	9	7	1	1	2	0	2	1	0	1	2	1	2	1	2	0	5	1	2	4	7			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:248343636G>C	ENST00000359682.2	+	1	349	c.349G>C	c.(349-351)Gtt>Ctt	p.V117L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V117I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTTTGGCTGTTATGGCTTA	0.403																																						.											1	Substitution - Missense(1)	lung(1)											206	220	215					1																	248343636		2203	4300	6503	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.349G>C	1.37:g.248343636G>C	ENSP00000352710:p.Val117Leu		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.063815	0.00386	.	.	ENSG00000198601	ENST00000359682	T	0.05139	3.49	2.03	-0.334	0.12666	GPCR, rhodopsin-like superfamily (1);	0.744519	0.10380	U	0.681646	T	0.04048	0.0113	L	0.38175	1.15	0.09310	N	1	B	0.17268	0.021	B	0.19666	0.026	T	0.47873	-0.9083	10	0.05833	T	0.94	.	3.9033	0.09171	0.2465:0.0:0.5662:0.1872	.	117	Q96R28	OR2M2_HUMAN	L	117	ENSP00000352710:V117L	ENSP00000352710:V117L	V	+	1	0	OR2M2	246410259	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.410000	0.34691	-0.220000	0.09988	-0.396000	0.06452	GTT		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		C	248343636	G	C	248343636	3	2	11	1	0	0	0	0	1	0	0	0	11010	1377	48	5	351	5	OR2M2	1	248343636	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10	87210809	248343636	906985	6	783											
OR2M2	391194	broad.mit.edu;mdanderson.org	37	chr1	248343935	248343935	+	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	cctgttgcaatcatcattgcTtcctatgctcgagttattct	7	17	6	11	1	3	0	2	0	1	0	5	1	4	0	2	0	3	5	2	0	3	6			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr1:248343935T>C	ENST00000359682.2	+	1	648	c.648T>C	c.(646-648)gcT>gcC	p.A216A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCATTGCTTCCTATGCTC	0.438																																						.											0													224	207	213					1																	248343935		2203	4300	6503	SO:0001819	synonymous_variant	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.648T>C	1.37:g.248343935T>C			A3KFT4	Silent	SNP	ENST00000359682.2	37	CCDS31106.1																																																																																				0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		C	248343935	T	C	248343935	2	2	11	1	0	0	0	0	0	0	0	1	11010	1596	56	2		2	OR2M2	1	248343935	Silent	SNP	T	TCGA-KL-8333-01A-11D-2310-10	299	248343935	906686	7	784											
TRIM43	129868	mdanderson.org	37	chr2	96260889	96260889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaacagccttcctctGgagggtaagtatgagaccgt	11	8	14	8	1	1	2	0	1	1	2	2	5	2	4	3	3	2	2	3	3	4	3	rs199714127		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr2:96260889G>T	ENST00000272395.2	+	3	639	c.503G>T	c.(502-504)tGg>tTg	p.W168L		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	168						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GCCTTCCTCTGGAGGGTAAGT	0.398																																						.											0													64	61	62					2																	96260889		2203	4299	6502	SO:0001583	missense	129868			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.503G>T	2.37:g.96260889G>T	ENSP00000272395:p.Trp168Leu		Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	1.918	-0.448952	0.04572	.	.	ENSG00000144015	ENST00000272395	T	0.03124	4.04	0.629	0.629	0.17687	.	.	.	.	.	T	0.03915	0.0110	L	0.43152	1.355	0.09310	N	1	B	0.33022	0.394	B	0.34180	0.177	T	0.43065	-0.9414	8	0.30854	T	0.27	-0.0398	.	.	.	.	168	Q96BQ3	TRI43_HUMAN	L	168	ENSP00000272395:W168L	ENSP00000272395:W168L	W	+	2	0	TRIM43	95624616	0.235000	0.23794	0.009000	0.14445	0.010000	0.07245	0.666000	0.25097	0.639000	0.30564	0.375000	0.23000	TGG		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		T	96260889	G	T	96260889	3	4	11	1	0	0	0	0	1	0	0	0	16515	1357	47	5	509	5	TRIM43	2	96260889	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10		96260889	146938484	8	785											
ABCB11	8647	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr2	169842725	169842725	+	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	atgagacaccacacgaatccAgtaaagaatcccatcactat	17	7	5	12	1	1	2	1	1	0	2	3	4	3	2	3	0	0	1	3	0	5	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr2:169842725A>C	ENST00000263817.6	-	10	1102	c.978T>G	c.(976-978)acT>acG	p.T326T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	326	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACACGAATCCAGTAAAGAATC	0.443																																						.											0													155	147	150					2																	169842725		1914	4128	6042	SO:0001819	synonymous_variant	8647			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.978T>G	2.37:g.169842725A>C			Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																				0.443	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		C	169842725	A	C	169842725	2	2	11	1	0	0	0	0	0	0	0	1	42	175	7	5		5	ABCB11	2	169842725	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10	73581836	169842725	73356648	9	786											
PARD3B	117583	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr2	206037069	206037069	+	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	aacatccgagggatgatccaGttggtgattctgaggaggcc	10	9	14	8	1	1	3	0	3	1	0	3	6	3	5	3	4	1	1	3	4	1	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr2:206037069G>A	ENST00000406610.2	+	12	1962	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q	PARD3B_ENST00000462231.1_Silent_p.Q585Q|PARD3B_ENST00000358768.2_Silent_p.Q523Q|PARD3B_ENST00000349953.3_Silent_p.Q585Q|PARD3B_ENST00000351153.1_Silent_p.Q585Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	585	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGATGATCCAGTTGGTGATTC	0.488																																						.											0													105	108	107					2																	206037069		1971	4171	6142	SO:0001819	synonymous_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1755G>A	2.37:g.206037069G>A			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																					0.488	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		A	206037069	G	A	206037069	2	1	11	1	0	0	0	0	0	0	0	1	11444	1020	36	4		4	PARD3B	2	206037069	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	36194344	206037069	37162304	10	787											
GBX2	2637	broad.mit.edu;bcgsc.ca	37	chr2	237074936	237074936	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcgcgtggcccgggTcttcctccttgtgagctgcc	2	10	12	17	3	1	1	0	1	1	0	4	1	4	1	6	2	3	1	6	2	0	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr2:237074936T>C	ENST00000306318.4	-	2	1065	c.668A>G	c.(667-669)gAc>gGc	p.D223G	GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	223				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6). {ECO:0000305}.	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)		GTGGCCCGGGTCTTCCTCCTT	0.677																																						.											0													50	50	50					2																	237074936		2203	4300	6503	SO:0001583	missense	2637			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.668A>G	2.37:g.237074936T>C	ENSP00000302251:p.Asp223Gly		B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.934558	0.34189	.	.	ENSG00000168505	ENST00000306318	D	0.92048	-2.96	4.29	4.29	0.51040	Homeodomain-like (1);	0.054903	0.64402	D	0.000001	D	0.83008	0.5161	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.76610	-0.2896	10	0.25751	T	0.34	-14.1119	8.9765	0.35939	0.0:0.0888:0.0:0.9112	.	223	P52951	GBX2_HUMAN	G	223	ENSP00000302251:D223G	ENSP00000302251:D223G	D	-	2	0	GBX2	236739675	1.000000	0.71417	0.993000	0.49108	0.749000	0.42624	4.165000	0.58196	1.582000	0.49881	0.379000	0.24179	GAC		0.677	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		C	237074936	T	C	237074936	3	2	11	1	0	0	0	0	1	0	0	0	6281	1667	58	2	382	2	GBX2	2	237074936	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	31037867	237074936	6124437	11	788											
RBM15B	29890	ucsc.edu;bcgsc.ca	37	chr3	51429336	51429336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagcgcttcggcgagaTcagcctccgcctgtcgcaca	7	8	11	15	5	2	1	2	0	0	1	5	2	3	1	3	1	2	3	3	1	1	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr3:51429336T>C	ENST00000323686.4	+	1	606	c.506T>C	c.(505-507)aTc>aCc	p.I169T		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	169	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)		TTCGGCGAGATCAGCCTCCGC	0.677																																						.											0													37	44	42					3																	51429336		2122	4155	6277	SO:0001583	missense	29890			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.506T>C	3.37:g.51429336T>C	ENSP00000313890:p.Ile169Thr		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012455	0.54468	.	.	ENSG00000179837	ENST00000323686	T	0.15139	2.45	3.88	3.88	0.44766	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.12732	0.0309	L	0.29908	0.895	0.39091	D	0.961106	P	0.47409	0.895	B	0.38842	0.283	T	0.08659	-1.0711	9	0.87932	D	0	.	11.9967	0.53208	0.0:0.0:0.0:1.0	.	169	Q8NDT2	RB15B_HUMAN	T	169	ENSP00000313890:I169T	ENSP00000313890:I169T	I	+	2	0	RBM15B	51404376	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	4.271000	0.58902	1.540000	0.49301	0.379000	0.24179	ATC		0.677	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		C	51429336	T	C	51429336	3	2	11	1	0	0	0	0	1	0	0	0	13117	1435	50	4	508	4	RBM15B	3	51429336	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		51429336	146593094	12	789											
MCF2L2	23101	hgsc.bcm.edu	37	chr3	183145747	183145747	+	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	ctcctggggaggcatctcttCttttaagcaagacagcattt	9	13	9	10	0	2	1	0	0	2	1	4	2	3	2	1	3	2	3	1	3	2	4	rs372591631	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr3:183145747C>T	ENST00000328913.3	-	1	316	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	MCF2L2_ENST00000414362.2_Missense_Mutation_p.E7K|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E7K|MCF2L2_ENST00000447025.2_Missense_Mutation_p.E7K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	7							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)			GGCATCTCTTCTTTTAAGCAA	0.438																																						.											0													90	96	94					3																	183145747		2203	4300	6503	SO:0001583	missense	23101			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.19G>A	3.37:g.183145747C>T	ENSP00000328118:p.Glu7Lys		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255402	0.59321	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.06294	4.42;4.5;3.63;3.32	5.31	4.42	0.53409	.	0.187638	0.33217	N	0.005153	T	0.07773	0.0195	N	0.24115	0.695	0.27149	N	0.961459	P;P	0.51791	0.939;0.948	P;P	0.50314	0.637;0.588	T	0.09207	-1.0685	10	0.72032	D	0.01	.	9.0986	0.36653	0.0:0.8969:0.0:0.1031	.	7;7	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	K	7	ENSP00000328118:E7K;ENSP00000420070:E7K;ENSP00000388190:E7K;ENSP00000414131:E7K	ENSP00000328118:E7K	E	-	1	0	MCF2L2	184628441	1.000000	0.71417	0.772000	0.31596	0.835000	0.47333	2.586000	0.46119	1.201000	0.43203	0.655000	0.94253	GAA		0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		T	183145747	C	T	183145747	3	4	11	1	0	0	0	0	1	0	0	0	9380	922	32	4	3445	4	MCF2L2	3	183145747	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	131716411	183145747	14876683	13	790											
LETM1	3954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	1821161	1821162	+	Missense_Mutation	DNP	GC	GC	AG																															tgcagcttagagcaggcatcGctgaggatgtcgatttcctc																										TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr4:1821161_1821162GC>AG	ENST00000302787.2	-	11	1942_1943	c.1646_1647GC>CT	c.(1645-1647)aGC>aCT	p.S549T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	549					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGCAGGCATCGCTGAGGATGTC	0.535																																						.											0																																										SO:0001583	missense	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1646_1647delinsAG	4.37:g.1821161_1821162delinsAG	ENSP00000305653:p.Ser549Thr		B4DED2|Q9UF65	Missense_Mutation	DNP	ENST00000302787.2	37	CCDS3355.1																																																																																				0.535	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			AG	1821162	GC	AG	1821161	3	1	11	1	0	0	0	0	1	0	0	0	8734	1078	38	1	588	1	LETM1	4	1821161	Missense_Mutation	DNP	GC	TCGA-KL-8333-01A-11D-2310-10		1821161	189333115	14	791	23	2									
LETM1	3954	bcgsc.ca	37	chr4	1821162	1821162	+	Missense_Mutation	SNP	C	C	G																															gcagcttagagcaggcatcgCtgaggatgtcgatttcctcc																										TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr4:1821162C>G	ENST00000302787.2	-	11	1942	c.1646G>C	c.(1645-1647)aGc>aCc	p.S549T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	549					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCAGGCATCGCTGAGGATGTC	0.532																																						.											0													129	109	116					4																	1821162		2203	4300	6503	SO:0001583	missense	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1646G>C	4.37:g.1821162C>G	ENSP00000305653:p.Ser549Thr		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	c	16.49	3.137957	0.56936	.	.	ENSG00000168924	ENST00000302787	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	M	0.70275	2.135	0.50813	D	0.99989	P	0.46395	0.877	B	0.40741	0.339	T	0.64136	-0.6478	9	0.56958	D	0.05	-30.019	12.7556	0.57333	0.0:0.9198:0.0:0.0802	.	549	O95202	LETM1_HUMAN	T	549	.	ENSP00000305653:S549T	S	-	2	0	LETM1	1790960	1.000000	0.71417	0.782000	0.31804	0.716000	0.41182	5.032000	0.64140	2.407000	0.81776	0.655000	0.94253	AGC		0.532	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			G	1821162	C	G	1821162	3	3	11	1	0	0	0	0	1	0	0	0	8734	797	28	5	589	5	LETM1	4	1821162	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	1	1821162	189333114	15	792	23	2									
OTOP1	133060	broad.mit.edu	37	chr4	4228459	4228459	+	Frame_Shift_Del	DEL	G	G	-																															ggcgcgcacaccgccccgccGgggggccggggattccgggg																								rs553397205		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr4:4228459delG	ENST00000296358.4	-	1	157	c.133delC	c.(133-135)cggfs	p.R46fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ccgccccgccggggggccggg	0.736																																						.											0													3	4	4					4																	4228459		1958	3835	5793	SO:0001589	frameshift_variant	133060			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.133delC	4.37:g.4228459delG	ENSP00000296358:p.Arg46fs		A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	CCDS3372.1																																																																																				0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		-	4228459	G	-	4228459	7	5	11	1	0	1	0	1	0	0	0	0	11305	1115	39	0	1729	0	OTOP1	4	4228459	Frame_Shift_Del	DEL	G	TCGA-KL-8333-01A-11D-2310-10	2407297	4228459	186925817	16	793											
PDE8B	8622	broad.mit.edu	37	chr5	76714238	76714238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagctcacggtcaaggAcaccaaatgcaacattttca	13	9	6	13	1	3	0	3	0	0	0	4	1	4	1	2	2	3	2	2	2	3	3			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr5:76714238A>G	ENST00000264917.5	+	18	2141	c.2096A>G	c.(2095-2097)gAc>gGc	p.D699G	PDE8B_ENST00000340978.3_Missense_Mutation_p.D652G|PDE8B_ENST00000333194.4_Missense_Mutation_p.D644G|PDE8B_ENST00000346042.3_Missense_Mutation_p.D602G|PDE8B_ENST00000505283.1_Missense_Mutation_p.D164G|PDE8B_ENST00000342343.4_Missense_Mutation_p.D679G	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	699	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ACGGTCAAGGACACCAAATGC	0.483																																						.											0													83	68	73					5																	76714238		2203	4300	6503	SO:0001583	missense	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2096A>G	5.37:g.76714238A>G	ENSP00000264917:p.Asp699Gly		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644819	0.67358	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.75	5.75	0.90469	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.73430	2.235	0.80722	D	1	B;B;B;B;B	0.31274	0.086;0.057;0.317;0.206;0.071	B;B;B;B;B	0.38500	0.275;0.105;0.233;0.169;0.26	D	0.85748	0.1341	10	0.66056	D	0.02	.	16.0519	0.80769	1.0:0.0:0.0:0.0	.	602;652;644;679;699	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	G	652;602;699;679;644;164	ENSP00000345446:D652G;ENSP00000330428:D602G;ENSP00000264917:D699G;ENSP00000345646:D679G;ENSP00000331336:D644G;ENSP00000423461:D164G	ENSP00000264917:D699G	D	+	2	0	PDE8B	76749994	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.339000	0.96797	2.196000	0.70406	0.533000	0.62120	GAC		0.483	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		G	76714238	A	G	76714238	3	3	11	1	0	0	0	0	1	0	0	0	11654	275	10	2	2166	2	PDE8B	5	76714238	Missense_Mutation	SNP	A	TCGA-KL-8333-01A-11D-2310-10		76714238	104201022	17	794											
TFAP2A	7020	ucsc.edu	37	chr6	10410153	10410153	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggacctcctcgatggcgTgaggtaaggagtggatcgag	8	7	17	9	4	0	1	0	1	0	0	3	6	1	4	3	5	0	1	3	5	1	1			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:10410153T>C	ENST00000482890.1	-	3	813	c.461A>G	c.(460-462)cAc>cGc	p.H154R	TFAP2A_ENST00000319516.4_Missense_Mutation_p.H150R|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.H156R|TFAP2A_ENST00000379604.2_Missense_Mutation_p.H154R|TFAP2A_ENST00000379608.3_Missense_Mutation_p.H148R|TFAP2A-AS1_ENST00000420777.1_RNA			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	154					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)				CTCGATGGCGTGAGGTAAGGA	0.627																																						.											0													12	11	11					6																	10410153		2133	4187	6320	SO:0001583	missense	7020			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.461A>G	6.37:g.10410153T>C	ENSP00000418541:p.His154Arg		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	CCDS4510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.63|16.63	3.176652|3.176652	0.57692|0.57692	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073|ENST00000475264	T;T;T;T;T;T|.	0.79940|.	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70343|0.70343	0.3213|0.3213	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;P;P;B;B;B;B|.	0.76494|.	0.999;0.483;0.825;0.444;0.22;0.22;0.194|.	D;B;B;B;B;B;B|.	0.78314|.	0.991;0.057;0.255;0.114;0.039;0.024;0.184|.	T|T	0.74241|0.74241	-0.3729|-0.3729	10|5	0.56958|.	D|.	0.05|.	-11.6671|-11.6671	13.6286|13.6286	0.62181|0.62181	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	156;154;154;156;150;154;148|.	Q96SH1;C1K3N0;P05549-2;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.;.;.;.;.;AP2A_HUMAN;.|.	R|A	156;154;150;148;154;154|59	ENSP00000368933:H156R;ENSP00000368924:H154R;ENSP00000316516:H150R;ENSP00000368928:H148R;ENSP00000418541:H154R;ENSP00000417495:H154R|.	ENSP00000316516:H150R|.	H|T	-|-	2|1	0|0	TFAP2A|TFAP2A	10518139|10518139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	3.800000|3.800000	0.55537|0.55537	1.892000|1.892000	0.54788|0.54788	0.482000|0.482000	0.46254|0.46254	CAC|ACG		0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		C	10410153	T	C	10410153	3	2	11	1	0	0	0	0	1	0	0	0	15784	1696	59	2	876	2	TFAP2A	6	10410153	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		10410153	160704914	18	795											
GMPR	2766	ucsc.edu	37	chr6	16247121	16247121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcaaagcagacctacTcagggattcccatcatcgtg	13	9	8	11	1	3	1	3	0	0	1	5	3	4	2	2	1	2	1	2	1	3	3			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:16247121T>C	ENST00000259727.4	+	2	250	c.136T>C	c.(136-138)Tca>Cca	p.S46P		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	46					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)				GCAGACCTACTCAGGGATTCC	0.473																																						.											0													141	128	132					6																	16247121		2203	4300	6503	SO:0001583	missense	2766				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.136T>C	6.37:g.16247121T>C	ENSP00000259727:p.Ser46Pro		Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222554	0.58668	.	.	ENSG00000137198	ENST00000259727	T	0.78924	-1.22	5.37	2.77	0.32553	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.298946	0.34435	N	0.003976	T	0.59985	0.2234	M	0.72894	2.215	0.43750	D	0.996253	B	0.09022	0.002	B	0.08055	0.003	T	0.60100	-0.7329	10	0.32370	T	0.25	-19.9677	9.3895	0.38363	0.5115:0.0:0.0:0.4885	.	46	P36959	GMPR1_HUMAN	P	46	ENSP00000259727:S46P	ENSP00000259727:S46P	S	+	1	0	GMPR	16355100	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.275000	0.58927	0.955000	0.37878	0.459000	0.35465	TCA		0.473	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			C	16247121	T	C	16247121	3	2	11	1	0	0	0	0	1	0	0	0	6496	1551	54	2	142	2	GMPR	6	16247121	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	5836968	16247121	154867946	19	796											
LRRC1	55227	ucsc.edu	37	chr6	53660086	53660086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccccctgtggcggtgcaAccgtcatgtggagagcatcg	7	8	13	13	3	1	1	1	0	0	1	3	2	2	1	3	3	3	2	3	3	1	0	rs201594887		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:53660086A>G	ENST00000370888.1	+	1	309	c.32A>G	c.(31-33)aAc>aGc	p.N11S	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Missense_Mutation_p.N11S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	11						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)		TGGCGGTGCAACCGTCATGTG	0.706																																						.											0													39	34	36					6																	53660086		2203	4300	6503	SO:0001583	missense	55227			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.32A>G	6.37:g.53660086A>G	ENSP00000359925:p.Asn11Ser		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.280390	0.80692	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.50813	3.66;0.73	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	M	0.72118	2.19	0.58432	D	0.999999	D	0.63880	0.993	D	0.68192	0.956	T	0.56159	-0.8025	10	0.33940	T	0.23	.	13.2157	0.59859	1.0:0.0:0.0:0.0	.	11	Q9BTT6	LRRC1_HUMAN	S	11	ENSP00000359925:N11S;ENSP00000359919:N11S	ENSP00000359919:N11S	N	+	2	0	LRRC1	53768045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.065000	0.89485	1.780000	0.52325	0.460000	0.39030	AAC		0.706	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		G	53660086	A	G	53660086	3	3	11	1	0	0	0	0	1	0	0	0	8966	43	2	2	34	2	LRRC1	6	53660086	Missense_Mutation	SNP	A	TCGA-KL-8333-01A-11D-2310-10	37412965	53660086	117454981	20	797											
KIAA1009	22832	broad.mit.edu	37	chr6	84884491	84884491	+	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	tgattcaatttgaagagttcTttttcctgttgtttctttag	7	22	7	5	0	3	3	1	2	2	1	4	3	4	3	1	0	0	3	1	0	3	9			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:84884491T>C	ENST00000403245.3	-	15	2094	c.1980A>G	c.(1978-1980)aaA>aaG	p.K660K	KIAA1009_ENST00000257766.4_Silent_p.K584K|KIAA1009_ENST00000461137.1_5'UTR	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)		TGAAGAGTTCTTTTTCCTGTT	0.303																																						.											0													63	57	59					6																	84884491		2202	4296	6498	SO:0001819	synonymous_variant	22832																														ENST00000403245.3:c.1980A>G	6.37:g.84884491T>C				Silent	SNP	ENST00000403245.3	37	CCDS34494.2																																																																																				0.303	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84884491	T	C	84884491	2	2	11	1	0	0	0	0	0	0	0	1	8203	1606	56	2		2	KIAA1009	6	84884491	Silent	SNP	T	TCGA-KL-8333-01A-11D-2310-10	31224405	84884491	86230576	21	798											
TAGAP	117289	ucsc.edu	37	chr6	159456931	159456931	+	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	tggctacatcgtcgcacgagAcagtcccgcttattcctctg	7	11	9	14	4	1	1	0	0	1	1	5	2	3	1	2	1	1	3	2	1	2	3			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr6:159456931A>G	ENST00000367066.3	-	10	2455	c.2124T>C	c.(2122-2124)tgT>tgC	p.C708C	TAGAP_ENST00000326965.6_Silent_p.C530C|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	708					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTCGCACGAGACAGTCCCGCT	0.577																																						.											0													71	65	67					6																	159456931		2203	4300	6503	SO:0001819	synonymous_variant	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2124T>C	6.37:g.159456931A>G			Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	CCDS5261.1																																																																																				0.577	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		G	159456931	A	G	159456931	2	3	11	1	0	0	0	0	0	0	0	1	15534	273	10	2		2	TAGAP	6	159456931	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10	74572440	159456931	11658136	22	799											
STK31	56164	broad.mit.edu	37	chr7	23825129	23825129	+	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	ctccttacaatgagcttggaAcgagatcttcttgatgctga	10	13	9	9	1	2	4	0	3	2	1	3	6	3	5	1	1	4	2	1	1	3	4			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr7:23825129A>G	ENST00000355870.3	+	18	2300	c.2181A>G	c.(2179-2181)gaA>gaG	p.E727E	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.E704E|STK31_ENST00000433467.2_Silent_p.E727E|STK31_ENST00000354639.3_Silent_p.E704E	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	727	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAGCTTGGAACGAGATCTTC	0.403																																						.											0													198	188	191					7																	23825129		2203	4300	6503	SO:0001819	synonymous_variant	56164			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.2181A>G	7.37:g.23825129A>G			B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23825129	A	G	23825129	2	3	11	1	0	0	0	0	0	0	0	1	15295	40	2	2		2	STK31	7	23825129	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10		23825129	135313534	23	800											
LIMK1	3984	broad.mit.edu	37	chr7	73535525	73535526	+	Frame_Shift_Ins	INS	-	-	C																															ctccgcatgcacctggccggINSccacctgccactgggcccac																										TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr7:73535525_73535526insC	ENST00000336180.2	+	16	1889_1890	c.1838_1839insC	c.(1837-1842)ggccacfs	p.H614fs	LIMK1_ENST00000418310.1_Frame_Shift_Ins_p.H644fs|LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.H580fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	614					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CACCTGGCCGGCCACCTGCCAC	0.683																																						.											0																																										SO:0001589	frameshift_variant	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1840dupC	7.37:g.73535527_73535527dupC	ENSP00000336740:p.His614fs		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Ins	INS	ENST00000336180.2	37	CCDS5563.1																																																																																				0.683	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		C	73535526	-	C	73535525	7	5	11	1	0	1	1	0	0	0	0	0	8801	1203	42	0	1900	0	LIMK1	7	73535525	Frame_Shift_Ins	INS	-	TCGA-KL-8333-01A-11D-2310-10	49710396	73535525	85603138	24	801											
MLL3	58508	bcgsc.ca	37	chr7	151962265	151962265	+	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	taagaggtctcccgggctgtCgcacactgcacagtttgcat	8	10	11	12	2	1	1	0	0	1	1	3	1	1	1	1	2	2	5	1	2	1	2	rs201834857		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr7:151962265C>T	ENST00000262189.6	-	8	1260	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D348N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	348					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.D348N(2)									CCCGGGCTGTCGCACACTGCA	0.383																																						.											2	Substitution - Missense(2)	skin(2)											112	101	104					7																	151962265		2203	4296	6499	SO:0001583	missense	58508			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.1042G>A	7.37:g.151962265C>T	ENSP00000262189:p.Asp348Asn		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730606	0.48939	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98807	-5.15;-5.15	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43919	U	0.000512	D	0.98516	0.9505	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98479	1.0604	10	0.23302	T	0.38	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	348	Q8NEZ4	MLL3_HUMAN	N	348	ENSP00000262189:D348N;ENSP00000347325:D348N	ENSP00000262189:D348N	D	-	1	0	MLL3	151593198	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	7.772000	0.85439	2.271000	0.75665	0.557000	0.71058	GAC		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151962265	C	T	151962265	3	4	11	1	0	0	0	0	1	0	0	0	9622	884	31	1	13901	1	MLL3	7	151962265	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	78426740	151962265	7176398	25	802											
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-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	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																																						.											0													16	22	20					8																	22079280		1977	4149	6126	SO:0001819	synonymous_variant	9796			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			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	11	1	0	0	0	0	0	0	0	1	11866	1190	42	5		5	PHYHIP	8	22079280	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10		22079280	124284742	26	803											
ABRA	137735	broad.mit.edu	37	chr8	107773293	107773293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgtaatcacaacatggTcatctcggccttgccatagc	10	10	9	12	2	3	0	2	0	1	0	4	0	3	0	2	2	4	2	2	2	4	4			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr8:107773293T>C	ENST00000311955.3	-	2	1172	c.1118A>G	c.(1117-1119)gAc>gGc	p.D373G		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CACAACATGGTCATCTCGGCC	0.418																																						.											0													208	191	197					8																	107773293		2203	4300	6503	SO:0001583	missense	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.1118A>G	8.37:g.107773293T>C	ENSP00000311436:p.Asp373Gly			Missense_Mutation	SNP	ENST00000311955.3	37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766493	0.90020	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89491	0.3757	9	0.87932	D	0	-0.5928	16.0752	0.80965	0.0:0.0:0.0:1.0	.	373	Q8N0Z2	ABRA_HUMAN	G	373	.	ENSP00000311436:D373G	D	-	2	0	ABRA	107842469	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.036000	0.88901	2.180000	0.69256	0.528000	0.53228	GAC		0.418	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		C	107773293	T	C	107773293	3	2	11	1	0	0	0	0	1	0	0	0	100	1667	58	2	31	2	ABRA	8	107773293	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	85694013	107773293	38590729	27	804											
FER1L6	654463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	125074107	125074107	+	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	ctgcaggaactgcctgagaaCgagcttctgcacccgccact	9	7	10	15	2	1	1	0	1	1	1	1	4	1	2	3	1	6	3	3	1	2	1			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr8:125074107C>T	ENST00000522917.1	+	25	3368	c.3162C>T	c.(3160-3162)aaC>aaT	p.N1054N	FER1L6_ENST00000399018.1_Silent_p.N1054N|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1054	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGCCTGAGAACGAGCTTCTGC	0.572																																						.											0													71	73	72					8																	125074107		1999	4196	6195	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3162C>T	8.37:g.125074107C>T				Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.572	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125074107	C	T	125074107	2	4	11	1	0	0	0	0	0	0	0	1	5815	535	19	1		1	FER1L6	8	125074107	Silent	SNP	C	TCGA-KL-8333-01A-11D-2310-10	17300814	125074107	21289915	28	805											
NUP214	8021	bcgsc.ca	37	chr9	134074387	134074387	+	Missense_Mutation	SNP	T	T	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	cagcaacctctgggttcagcTtttgccaagcttcaggtaag	9	11	10	11	0	3	0	2	0	1	0	3	0	3	0	2	2	5	5	2	2	3	5			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr9:134074387T>C	ENST00000359428.5	+	29	5650	c.5506T>C	c.(5506-5508)Ttt>Ctt	p.F1836L	NUP214_ENST00000451030.1_Missense_Mutation_p.F1837L|NUP214_ENST00000483497.2_Missense_Mutation_p.F662L|NUP214_ENST00000411637.2_Missense_Mutation_p.F1826L			P35658	NU214_HUMAN	nucleoporin 214kDa	1836	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGGGTTCAGCTTTTGCCAAGC	0.468			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	.		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													50	57	54					9																	134074387		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5506T>C	9.37:g.134074387T>C	ENSP00000352400:p.Phe1836Leu		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831854	0.91036	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.62788	-0.0;0.04;-0.0;0.17	6.07	6.07	0.98685	.	0.000000	0.45361	D	0.000373	T	0.62539	0.2436	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.99	D;D;D;D;D	0.72982	0.979;0.979;0.979;0.979;0.979	T	0.68334	-0.5436	10	0.44086	T	0.13	-22.7254	15.4756	0.75478	0.0:0.0:0.0:1.0	.	662;1265;1430;1826;1836	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1836;1826;1837;1815;1430;1265;662	ENSP00000352400:F1836L;ENSP00000396576:F1826L;ENSP00000405014:F1837L;ENSP00000436793:F662L	ENSP00000352400:F1836L	F	+	1	0	NUP214	133064208	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.810000	0.75216	2.326000	0.78906	0.533000	0.62120	TTT		0.468	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		C	134074387	T	C	134074387	3	2	11	1	0	0	0	0	1	0	0	0	10762	1609	56	2	5620	2	NUP214	9	134074387	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		134074387	7139044	29	806											
SH3PXD2A	9644	mdanderson.org;bcgsc.ca	37	chr10	105362429	105362429	+	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	cctggaccttctggtaggcgCtgcatgtcatgtacgaggtg	6	11	14	10	2	2	0	1	0	1	0	2	2	2	1	2	4	2	4	2	4	2	3			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr10:105362429C>T	ENST00000369774.4	-	15	2822	c.2546G>A	c.(2545-2547)aGc>aAc	p.S849N	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S716N|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S684N|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S821N			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	849	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.S821T(1)		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)		CTGGTAGGCGCTGCATGTCAT	0.612																																						.											1	Substitution - Missense(1)	lung(1)											70	69	69					10																	105362429		2203	4300	6503	SO:0001583	missense	9644			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.2546G>A	10.37:g.105362429C>T	ENSP00000358789:p.Ser849Asn		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.	.	.	.	.	.	.	.	.	.	C	8.102	0.776833	0.16120	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.83	3.8	0.43715	Src homology-3 domain (2);	0.323099	0.37715	N	0.001971	T	0.22551	0.0544	L	0.38838	1.175	0.09310	N	0.999992	B;B;B;B	0.32302	0.201;0.309;0.363;0.167	B;B;B;B	0.37601	0.197;0.197;0.254;0.124	T	0.09574	-1.0668	10	0.25106	T	0.35	-19.0441	5.7598	0.18192	0.0:0.7468:0.0:0.2532	.	849;698;694;821	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	N	849;821;656;764;716;684	ENSP00000358789:S849N;ENSP00000348215:S821N;ENSP00000443663:S716N;ENSP00000441514:S684N	ENSP00000318135:S656N	S	-	2	0	SH3PXD2A	105352419	1.000000	0.71417	0.045000	0.18777	0.479000	0.33129	4.107000	0.57811	2.255000	0.74692	0.555000	0.69702	AGC		0.612	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		T	105362429	C	T	105362429	3	4	11	1	0	0	0	0	1	0	0	0	14256	797	28	4	859	4	SH3PXD2A	10	105362429	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		105362429	30172318	30	807											
PRKCDBP	112464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	6341681	6341681	+	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	ccggcgcctcgggcacaggcCcccgctccaacgcactctcc	5	4	10	22	5	1	0	0	0	1	0	4	0	2	0	6	3	1	3	6	3	1	0			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr11:6341681C>T	ENST00000303927.3	-	1	196	c.26G>A	c.(25-27)gGg>gAg	p.G9E	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.G9E	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	9					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)		GGGCACAGGCCCCCGCTCCAA	0.701																																						.											0													10	11	11					11																	6341681		2131	4149	6280	SO:0001583	missense	112464			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.26G>A	11.37:g.6341681C>T	ENSP00000307292:p.Gly9Glu			Missense_Mutation	SNP	ENST00000303927.3	37	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102811	0.76983	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.55413	0.52;1.54	5.03	3.07	0.35406	.	0.516908	0.19338	N	0.116703	T	0.29491	0.0735	N	0.08118	0	0.28687	N	0.904783	B	0.16802	0.019	B	0.23419	0.046	T	0.11842	-1.0571	10	0.62326	D	0.03	-17.3016	6.1205	0.20150	0.0:0.7081:0.1916:0.1004	.	9	Q969G5	PRDBP_HUMAN	E	9	ENSP00000307292:G9E;ENSP00000432047:G9E	ENSP00000307292:G9E	G	-	2	0	PRKCDBP	6298257	0.452000	0.25713	0.994000	0.49952	0.910000	0.53928	0.800000	0.27042	2.613000	0.88420	0.655000	0.94253	GGG		0.701	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		T	6341681	C	T	6341681	3	4	11	1	0	0	0	0	1	0	0	0	12510	623	22	3	767	3	PRKCDBP	11	6341681	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		6341681	128664835	31	808											
CAPN5	726	broad.mit.edu	37	chr11	76804733	76804733	+	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	tcgccttctccgcagggcatCtgcgaggacccccgcctctt	4	9	10	18	4	3	0	0	0	3	0	5	2	3	1	5	2	1	2	5	2	0	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr11:76804733C>T	ENST00000278559.3	+	3	360	c.171C>T	c.(169-171)atC>atT	p.I57I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.I57I|CAPN5_ENST00000456580.2_Silent_p.I97I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	57	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				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						CGCAGGGCATCTGCGAGGACC	0.637																																						.											0													38	30	33					11																	76804733		2196	4289	6485	SO:0001819	synonymous_variant	726				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.171C>T	11.37:g.76804733C>T			O00263	Silent	SNP	ENST00000278559.3	37	CCDS8248.1																																																																																				0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		T	76804733	C	T	76804733	2	4	11	1	0	0	0	0	0	0	0	1	2629	903	32	4		4	CAPN5	11	76804733	Silent	SNP	C	TCGA-KL-8333-01A-11D-2310-10	70463052	76804733	58201783	32	809											
MRE11A	4361	bcgsc.ca	37	chr11	94211961	94211961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccggactaatgtctaTcttctccacagacattgaac	14	10	5	12	1	3	2	0	1	3	1	4	3	3	3	2	1	2	0	2	1	5	4			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr11:94211961T>C	ENST00000323929.3	-	6	706	c.484A>G	c.(484-486)Ata>Gta	p.I162V	MRE11A_ENST00000323977.3_Missense_Mutation_p.I162V|MRE11A_ENST00000407439.3_Missense_Mutation_p.I165V|MRE11A_ENST00000540013.1_Missense_Mutation_p.I162V|MRE11A_ENST00000393241.4_Missense_Mutation_p.I162V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	162					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|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)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTAATGTCTATCTTCTCCACA	0.363								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													.											0													97	88	91					11																	94211961		2201	4298	6499	SO:0001583	missense	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.484A>G	11.37:g.94211961T>C	ENSP00000325863:p.Ile162Val		O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822393	0.32237	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.54	2.0	0.26442	Metallophosphoesterase domain (1);	0.125962	0.64402	N	0.000001	T	0.69433	0.3110	L	0.31926	0.97	0.45979	D	0.998794	B;B;B	0.15473	0.007;0.002;0.013	B;B;B	0.26517	0.07;0.021;0.043	T	0.57394	-0.7819	10	0.34782	T	0.22	-16.6202	8.7495	0.34607	0.0:0.2208:0.0:0.7792	.	165;162;162	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	V	162;165;162;162;162	ENSP00000325863:I162V;ENSP00000385614:I165V;ENSP00000326094:I162V;ENSP00000376933:I162V;ENSP00000440986:I162V	ENSP00000325863:I162V	I	-	1	0	MRE11A	93851609	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	2.694000	0.47035	0.089000	0.17243	0.372000	0.22366	ATA		0.363	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		C	94211961	T	C	94211961	3	2	11	1	0	0	0	0	1	0	0	0	9759	1435	50	4	1702	4	MRE11A	11	94211961	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	17407228	94211961	40794555	33	810											
ADAMTS15	170689	bcgsc.ca	37	chr11	130332482	130332501	+	Frame_Shift_Del	DEL	CTGGCTTTTGGCGTGGGCTC	CTGGCTTTTGGCGTGGGCTC	-																															cctgagccagcagtgcgagcTggcttttggcgtgggctcca																								rs535808287|rs146615969		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	CTGGCTTTTGGCGTGGGCTC	CTGGCTTTTGGCGTGGGCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr11:130332482_130332501delCTGGCTTTTGGCGTGGGCTC	ENST00000299164.2	+	4	1349_1368	c.1349_1368delCTGGCTTTTGGCGTGGGCTC	c.(1348-1368)cctggcttttggcgtgggctcfs	p.PGFWRGL450fs		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	450	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAGTGCGAGCTGGCTTTTGGCGTGGGCTCCAAGCCCTGTC	0.645																																						.											0																																										SO:0001589	frameshift_variant	170689			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.1349_1368delCTGGCTTTTGGCGTGGGCTC	11.37:g.130332482_130332501delCTGGCTTTTGGCGTGGGCTC	ENSP00000299164:p.Pro450fs		Q32MI6	Frame_Shift_Del	DEL	ENST00000299164.2	37	CCDS8488.1																																																																																				0.645	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		-	130332501	CTGGCTTTTGGCGTGGGCTC	-	130332482	7	5	11	1	0	1	0	1	0	0	0	0	260	1580	55	0	1363	0	ADAMTS15	11	130332482	Frame_Shift_Del	DEL	CTGGCTTTTGGCGTGGGCTC	TCGA-KL-8333-01A-11D-2310-10	36120521	130332482	4674034	34	811											
PRB2	653247	mdanderson.org	37	chr12	11546616	11546616	+	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	ggctttcctggaggaggtggAggaccttgaggctggttgcc	5	10	18	8	0	0	1	0	1	0	0	1	5	1	5	3	8	1	3	3	8	0	3	rs199923047		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr12:11546616A>G	ENST00000389362.4	-	3	431	c.396T>C	c.(394-396)ccT>ccC	p.P132P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	132	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)			GAGGAGGTGGAGGACCTTGAG	0.607																																						.											0													292	264	273					12																	11546616		2201	4300	6501	SO:0001819	synonymous_variant	653247			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.396T>C	12.37:g.11546616A>G			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	11546616	A	G	11546616	2	3	11	1	0	0	0	0	0	0	0	1	12443	291	11	2		2	PRB2	12	11546616	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10		11546616	122305279	35	812											
PPFIA2	8499	ucsc.edu	37	chr12	81719630	81719630	+	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	agggactcctgagctgcagcTtcagtctccataaagcctcc	9	9	9	14	0	2	1	1	1	1	0	5	2	4	2	4	1	4	3	4	1	2	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr12:81719630T>C	ENST00000549396.1	-	22	2728	c.2568A>G	c.(2566-2568)gaA>gaG	p.E856E	PPFIA2_ENST00000443686.3_Silent_p.E757E|PPFIA2_ENST00000550359.2_Silent_p.E703E|PPFIA2_ENST00000552948.1_Silent_p.E856E|PPFIA2_ENST00000550584.2_Silent_p.E856E|PPFIA2_ENST00000333447.7_Silent_p.E838E|PPFIA2_ENST00000549325.1_Silent_p.E838E|PPFIA2_ENST00000407050.4_Silent_p.E782E|PPFIA2_ENST00000541017.1_Silent_p.E73E|PPFIA2_ENST00000541570.2_Silent_p.E423E|PPFIA2_ENST00000548586.1_Silent_p.E856E|PPFIA2_ENST00000545296.2_Intron	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	856					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						GAGCTGCAGCTTCAGTCTCCA	0.423																																						.											0													69	70	70					12																	81719630		1866	4107	5973	SO:0001819	synonymous_variant	8499			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.2568A>G	12.37:g.81719630T>C			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	8.987	0.976775	0.18812	.	.	ENSG00000139220	ENST00000551147	.	.	.	5.83	4.69	0.59074	.	.	.	.	.	T	0.56062	0.1960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53180	-0.8475	4	.	.	.	-17.7436	6.288	0.21043	0.141:0.0759:0.0:0.7831	.	.	.	.	G	19	.	.	S	-	1	0	PPFIA2	80243761	0.997000	0.39634	1.000000	0.80357	0.931000	0.56810	0.367000	0.20382	1.030000	0.39839	0.477000	0.44152	AGC		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			C	81719630	T	C	81719630	2	2	11	1	0	0	0	0	0	0	0	1	12310	1606	56	2		2	PPFIA2	12	81719630	Silent	SNP	T	TCGA-KL-8333-01A-11D-2310-10	70173014	81719630	52132265	36	813											
RILPL1	353116	broad.mit.edu	37	chr12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttatctcgggagaagaaGctaaacctttggaagggaaa	14	10	11	6	1	2	2	0	0	2	2	3	5	2	4	1	3	2	1	1	3	7	4			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R|SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					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)		p.S358R(3)		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)		GGGAGAAGAAGCTAAACCTTT	0.498																																						.											3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65	63	63					12																	123957223		1944	4154	6098	SO:0001583	missense	353116			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.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		T	123957223	G	T	123957223	3	4	11	1	0	0	0	0	1	0	0	0	13361	962	34	5	141	5	RILPL1	12	123957223	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10	42237593	123957223	9894672	37	814											
TPTE2	93492	mdanderson.org	37	chr13	20000609	20000609	+	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	atcatcatacagaggtggacCgtcatatacattaattaata	16	12	6	7	1	3	1	3	0	0	1	3	2	3	2	1	2	2	0	1	2	6	6	rs141691551	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr13:20000609C>T	ENST00000400230.2	-	18	1395	c.1351G>A	c.(1351-1353)Ggt>Agt	p.G451S	TPTE2_ENST00000382975.4_Missense_Mutation_p.G411S|TPTE2_ENST00000255310.6_Missense_Mutation_p.G374S|TPTE2_ENST00000382978.1_Missense_Mutation_p.G411S|TPTE2_ENST00000390680.2_Missense_Mutation_p.G374S|TPTE2_ENST00000400103.2_Missense_Mutation_p.G340S|TPTE2_ENST00000382977.4_Missense_Mutation_p.G451S|TPTE2_ENST00000457266.2_Missense_Mutation_p.G340S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	451	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G451S(1)|p.G374R(1)|p.G374S(1)|p.G451R(1)		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)		AGAGGTGGACCGTCATATACA	0.338													c|||	18	0.00359425	0.0129	0.0014	5008	,	,		17308	0		0	False		,,,				2504	0					.											4	Substitution - Missense(4)	prostate(2)|lung(2)						C	SER/GLY,SER/GLY,SER/GLY	59,4347	53.6+/-89.4	0,59,2144	115	115	115		1018,1120,1351	0.8	0	13	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	56,56,56	0,60,6443	TT,TC,CC		0.0116,1.3391,0.4613	benign,benign,benign	340/412,374/446,451/523	20000609	60,12946	2203	4300	6503	SO:0001583	missense	93492			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.1351G>A	13.37:g.20000609C>T	ENSP00000383089:p.Gly451Ser		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	c	2.177	-0.388580	0.04932	0.013391	1.16E-4	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	2.06	0.84	0.18912	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174692	0.50627	D	0.000101	T	0.56673	0.2001	N	0.12746	0.255	0.09310	N	1	B;B;B	0.32829	0.124;0.101;0.386	B;B;B	0.29524	0.064;0.024;0.103	T	0.51803	-0.8659	9	.	.	.	-15.6776	4.9604	0.14063	0.6673:0.3327:0.0:0.0	.	340;374;451	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	411;340;451;374;374;451;411;340;451	ENSP00000372438:G411S;ENSP00000382974:G340S;ENSP00000383089:G451S;ENSP00000255310:G374S;ENSP00000375098:G374S;ENSP00000372437:G451S;ENSP00000372435:G411S;ENSP00000442218:G340S	.	G	-	1	0	TPTE2	18898609	0.779000	0.28652	0.004000	0.12327	0.004000	0.04260	1.504000	0.35726	0.231000	0.21079	0.194000	0.17425	GGT		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		T	20000609	C	T	20000609	3	4	11	1	0	0	0	0	1	0	0	0	16428	652	23	1	229	1	TPTE2	13	20000609	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		20000609	95169269	38	815											
ZMYM5	9205	broad.mit.edu	37	chr13	20426257	20426257	+	Missense_Mutation	SNP	T	T	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	gagactagttgccatggccaTattccctaataaagcaggag	13	9	10	9	0	0	1	0	0	0	1	1	3	1	2	3	2	2	2	3	2	5	6			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr13:20426257T>C	ENST00000337963.4	-	3	328	c.64A>G	c.(64-66)Atg>Gtg	p.M22V	ZMYM5_ENST00000382907.4_Missense_Mutation_p.M22V|ZMYM5_ENST00000382905.4_Missense_Mutation_p.M22V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	22						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GCCATGGCCATATTCCCTAAT	0.413																																						.											0													205	205	205					13																	20426257		2203	4300	6503	SO:0001583	missense	9205			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.64A>G	13.37:g.20426257T>C	ENSP00000337034:p.Met22Val		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	T	0.574	-0.839877	0.02692	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.49	0.351	0.16042	.	.	.	.	.	T	0.15046	0.0363	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.04013	0.001;0.0;0.0	T	0.23762	-1.0179	9	0.52906	T	0.07	2.6265	5.3146	0.15849	0.2807:0.0774:0.0:0.6419	.	22;22;22	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	V	22;12;22;22	ENSP00000337034:M22V;ENSP00000445779:M12V;ENSP00000372364:M22V;ENSP00000372361:M22V	ENSP00000337034:M22V	M	-	1	0	ZMYM5	19324257	0.013000	0.17824	0.001000	0.08648	0.008000	0.06430	0.632000	0.24583	-0.006000	0.14370	0.459000	0.35465	ATG		0.413	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		C	20426257	T	C	20426257	3	2	11	1	0	0	0	0	1	0	0	0	17700	1406	49	4	2080	4	ZMYM5	13	20426257	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	425648	20426257	94743621	39	816											
KCNK10	54207	broad.mit.edu	37	chr14	88652217	88652217	+	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	cttgttcagctgctccggccCcttcaggcgcaggttgttgg	3	12	13	13	2	2	0	2	0	0	0	3	0	3	0	3	4	2	6	3	4	0	5			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr14:88652217C>T	ENST00000340700.5	-	7	1730	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R	KCNK10_ENST00000312350.5_Missense_Mutation_p.G432R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G432R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	427					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGCTCCGGCCCCTTCAGGCGC	0.597																																						.											0													70	73	72					14																	88652217		2203	4300	6503	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1279G>A	14.37:g.88652217C>T	ENSP00000343104:p.Gly427Arg		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785026	0.49997	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.92805	-3.1;-3.11;-3.08	5.71	5.71	0.89125	.	0.463750	0.25138	N	0.032841	D	0.89646	0.6775	N	0.08118	0	0.80722	D	1	P;P;P	0.52577	0.89;0.745;0.954	P;B;P	0.53450	0.521;0.277;0.726	D	0.91751	0.5412	10	0.66056	D	0.02	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	427;432;432	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	427;432;432	ENSP00000343104:G427R;ENSP00000310568:G432R;ENSP00000312811:G432R	ENSP00000310568:G432R	G	-	1	0	KCNK10	87721970	1.000000	0.71417	0.352000	0.25734	0.037000	0.13140	5.529000	0.67135	2.709000	0.92574	0.655000	0.94253	GGG		0.597	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88652217	C	T	88652217	3	4	11	1	0	0	0	0	1	0	0	0	8059	623	22	3	341	3	KCNK10	14	88652217	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		88652217	18697323	40	817											
DYX1C1	161582	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr15	55731737	55731737	+	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	atcgcaaagttcagctatgtCagtattcattgctcttcgtg	9	15	8	9	2	4	0	3	0	1	0	6	0	4	0	0	0	2	5	0	0	3	6			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr15:55731737C>A	ENST00000321149.3	-	7	1193	c.826G>T	c.(826-828)Gac>Tac	p.D276Y	DYX1C1_ENST00000448430.2_Missense_Mutation_p.D276Y|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.D276Y|DYX1C1_ENST00000457155.2_Missense_Mutation_p.D276Y|DYX1C1_ENST00000380679.1_Missense_Mutation_p.D276Y	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	276					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TCAGCTATGTCAGTATTCATT	0.338																																						.											0													104	100	101					15																	55731737		2193	4291	6484	SO:0001583	missense	161582				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.826G>T	15.37:g.55731737C>A	ENSP00000323275:p.Asp276Tyr		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839365	0.71488	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.09	5.09	0.68999	.	0.064564	0.64402	U	0.000015	D	0.90195	0.6935	M	0.69823	2.125	0.54753	D	0.999981	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68353	0.957;0.929;0.944	D	0.90778	0.4677	10	0.59425	D	0.04	.	17.8393	0.88710	0.0:1.0:0.0:0.0	.	276;276;276	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	Y	276	ENSP00000403412:D276Y;ENSP00000370054:D276Y;ENSP00000402640:D276Y;ENSP00000323275:D276Y;ENSP00000299561:D276Y	ENSP00000323275:D276Y	D	-	1	0	DYX1C1	53519029	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	3.907000	0.56348	2.521000	0.84997	0.563000	0.77884	GAC		0.338	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		A	55731737	C	A	55731737	3	1	11	1	0	0	0	0	1	0	0	0	4862	826	29	5	555	5	DYX1C1	15	55731737	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10		55731737	46799655	41	818											
ACSM5	54988	bcgsc.ca	37	chr16	20430733	20430733	+	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	agacagcagtcggccaggctGgttgaacttcagggaactcc	10	7	13	11	1	1	2	1	1	0	1	3	3	2	3	2	4	3	3	2	4	2	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr16:20430733G>A	ENST00000331849.4	+	4	746	c.599G>A	c.(598-600)tGg>tAg	p.W200*	ACSM5_ENST00000575584.1_Nonsense_Mutation_p.W200*	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	200					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						CGGCCAGGCTGGTTGAACTTC	0.527																																						.											0													46	44	45					16																	20430733		2203	4299	6502	SO:0001587	stop_gained	54988				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.599G>A	16.37:g.20430733G>A	ENSP00000327916:p.Trp200*		Q96AV1|Q96CX8|Q9NWV3	Nonsense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520590	0.96416	.	.	ENSG00000183549	ENST00000331849	.	.	.	4.65	4.65	0.58169	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0847	17.6834	0.88250	0.0:0.0:1.0:0.0	.	.	.	.	X	200	.	ENSP00000327916:W200X	W	+	2	0	ACSM5	20338234	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.372000	0.79612	2.561000	0.86390	0.650000	0.86243	TGG		0.527	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		A	20430733	G	A	20430733	4	1	11	1	0	0	0	0	0	1	0	0	187	1357	47	4	609	4	ACSM5	16	20430733	Nonsense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10		20430733	69924020	42	819											
RRAD	6236	ucsc.edu	37	chr16	66958810	66958810	+	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	cccagcagcagcaccttgtaAacgctctcgtctgagtcgct	8	9	9	15	3	2	1	0	1	2	0	4	1	2	1	2	0	4	6	2	0	2	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr16:66958810A>G	ENST00000299759.6	-	2	523	c.273T>C	c.(271-273)gtT>gtC	p.V91V	RRAD_ENST00000420652.1_Silent_p.V91V			P55042	RAD_HUMAN	Ras-related associated with diabetes	91					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)		GCACCTTGTAAACGCTCTCGT	0.721																																						.											0													10	12	11					16																	66958810		2196	4296	6492	SO:0001819	synonymous_variant	6236			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.273T>C	16.37:g.66958810A>G			Q96F39	Silent	SNP	ENST00000299759.6	37	CCDS10824.1																																																																																				0.721	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		G	66958810	A	G	66958810	2	3	11	1	0	0	0	0	0	0	0	1	13671	1	1	4		4	RRAD	16	66958810	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10	46528077	66958810	23395943	43	820											
CPNE7	27132	broad.mit.edu;bcgsc.ca	37	chr16	89649860	89649860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaaataggtatgatgAcctctgcctcccctgggcga	8	10	11	12	1	1	2	0	2	1	0	2	3	2	2	5	3	1	2	5	3	4	3			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr16:89649860A>G	ENST00000268720.5	+	4	636	c.506A>G	c.(505-507)gAc>gGc	p.D169G	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	169					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)		aggtatgatgacctctgcctc	0.642																																						.											0													40	25	30					16																	89649860		2039	4043	6082	SO:0001583	missense	27132			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.506A>G	16.37:g.89649860A>G	ENSP00000268720:p.Asp169Gly			Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	A	1.390	-0.581055	0.03854	.	.	ENSG00000178773	ENST00000268720	T	0.27557	1.66	0.748	-0.804	0.10882	.	290.740000	0.00166	U	0.000000	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09907	-1.0653	10	0.23891	T	0.37	.	2.7152	0.05185	0.5777:0.0:0.0:0.4223	.	169	Q9UBL6	CPNE7_HUMAN	G	169	ENSP00000268720:D169G	ENSP00000268720:D169G	D	+	2	0	CPNE7	88177361	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	-0.257000	0.08745	-0.316000	0.08690	-0.871000	0.02989	GAC		0.642	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			G	89649860	A	G	89649860	3	3	11	1	0	0	0	0	1	0	0	0	3817	275	10	2	520	2	CPNE7	16	89649860	Missense_Mutation	SNP	A	TCGA-KL-8333-01A-11D-2310-10	22691050	89649860	704893	44	821											
FBXW10	10517	mdanderson.org	37	chr17	18682163	18682163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgcacagtcctagagTccagtccaccataccccagc	9	9	6	17	0	1	1	0	0	1	1	4	1	4	1	6	0	3	1	6	0	2	3	rs199779085	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr17:18682163T>C	ENST00000395665.4	+	14	2932	c.2711T>C	c.(2710-2712)gTc>gCc	p.V904A	TVP23B_ENST00000574226.1_5'Flank|FBXW10_ENST00000308799.4_Missense_Mutation_p.V913A|FBXW10_ENST00000301938.4_Missense_Mutation_p.V851A|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.V903A|TVP23B_ENST00000476139.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	904										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						AGTCCTAGAGTCCAGTCCACC	0.488																																						.											0								T	ALA/VAL	1,4405		0,1,2202	97	105	102		2708	3.6	0.3	17	dbSNP_134	102	0,8600		0,0,4300	no	missense	FBXW10	NM_031456.3	64	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	903/1052	18682163	1,13005	2203	4300	6503	SO:0001583	missense	10517			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.2711T>C	17.37:g.18682163T>C	ENSP00000379025:p.Val904Ala		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	9.638	1.138186	0.21123	2.27E-4	0.0	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	3.62	3.62	0.41486	.	0.542452	0.13237	U	0.403195	T	0.74943	0.3783	M	0.66939	2.045	0.09310	N	1	P;P;P;P	0.44429	0.663;0.835;0.533;0.835	B;B;B;B	0.43889	0.343;0.435;0.185;0.435	T	0.67562	-0.5639	10	0.54805	T	0.06	.	5.4477	0.16546	0.0:0.13:0.0:0.87	.	851;913;904;903	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	903;913;851;904	ENSP00000379026:V903A;ENSP00000310382:V913A;ENSP00000306937:V851A;ENSP00000379025:V904A	ENSP00000306937:V851A	V	+	2	0	FBXW10	18622888	0.187000	0.23238	0.327000	0.25402	0.635000	0.38103	3.727000	0.54984	1.477000	0.48234	0.338000	0.21704	GTC		0.488	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		C	18682163	T	C	18682163	3	2	11	1	0	0	0	0	1	0	0	0	5763	1667	58	2	2762	2	FBXW10	17	18682163	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		18682163	62513047	45	822											
RNF43	54894	hgsc.bcm.edu;ucsc.edu	37	chr17	56448329	56448329	+	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	cgaggactctccagcttgacGatgctgatgaatccaggctc	9	9	11	12	2	1	3	0	3	1	0	4	6	2	4	2	2	2	3	2	2	1	1			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr17:56448329G>T	ENST00000584437.1	-	2	2273	c.318C>A	c.(316-318)atC>atA	p.I106I	RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000407977.2_Silent_p.I106I|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577716.1_Silent_p.I106I|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	106					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)					CCAGCTTGACGATGCTGATGA	0.592																																						.											0													83	68	73					17																	56448329		2203	4300	6503	SO:0001819	synonymous_variant	54894				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.318C>A	17.37:g.56448329G>T			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	CCDS11607.1																																																																																				0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		T	56448329	G	T	56448329	2	4	11	1	0	0	0	0	0	0	0	1	13495	1048	37	5		5	RNF43	17	56448329	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	37766166	56448329	24746881	46	823											
FASN	2194	ucsc.edu	37	chr17	80049269	80049269	+	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	gtcctggctgtgccggaggcCctgctccagcagcttctgca	4	9	13	15	1	1	0	0	0	1	0	3	1	3	1	4	3	5	5	4	3	0	1			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr17:80049269C>T	ENST00000306749.2	-	9	1539	c.1321G>A	c.(1321-1323)Ggc>Agc	p.G441S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	441	Acyl and malonyl transferases. {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)	TGCCGGAGGCCCTGCTCCAGC	0.721																																					Colon(59;314 1043 11189 28578 32273)	.											0													16	20	19					17																	80049269		2183	4284	6467	SO:0001583	missense	2194			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.1321G>A	17.37:g.80049269C>T	ENSP00000304592:p.Gly441Ser		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	7.488	0.650141	0.14516	.	.	ENSG00000169710	ENST00000306749	T	0.26223	1.75	4.41	4.41	0.53225	.	0.120650	0.56097	D	0.000026	T	0.16685	0.0401	L	0.38175	1.15	0.43126	D	0.994857	B	0.20052	0.041	B	0.16289	0.015	T	0.10314	-1.0635	10	0.27785	T	0.31	-42.7918	5.2574	0.15553	0.0:0.7415:0.0:0.2585	.	441	P49327	FAS_HUMAN	S	441	ENSP00000304592:G441S	ENSP00000304592:G441S	G	-	1	0	FASN	77642558	1.000000	0.71417	0.974000	0.42286	0.050000	0.14768	2.796000	0.47869	2.298000	0.77334	0.484000	0.47621	GGC		0.721	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80049269	C	T	80049269	3	4	11	1	0	0	0	0	1	0	0	0	5683	623	22	3	6354	3	FASN	17	80049269	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	23600940	80049269	1145941	47	824											
EPS15L1	58513	bcgsc.ca	37	chr19	16513266	16513266	+	Missense_Mutation	SNP	T	T	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	cctgtgggcctcctggcggcTttcatgcagctgggaaagtt	5	11	14	11	1	1	0	1	0	0	0	2	1	2	1	3	4	2	4	3	4	1	2			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr19:16513266T>C	ENST00000248070.6	-	16	1796	c.1657A>G	c.(1657-1659)Agc>Ggc	p.S553G	EPS15L1_ENST00000597937.1_Missense_Mutation_p.S553G|EPS15L1_ENST00000602009.1_Missense_Mutation_p.S399G|EPS15L1_ENST00000594975.1_Missense_Mutation_p.S553G|EPS15L1_ENST00000535753.2_Missense_Mutation_p.S553G|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S553G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	553					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTGGCGGCTTTCATGCAGC	0.542																																						.											0													56	56	56					19																	16513266		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1657A>G	19.37:g.16513266T>C	ENSP00000248070:p.Ser553Gly		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106253	0.37145	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.33654	1.55;1.8;1.4	5.5	3.17	0.36434	.	0.087286	0.85682	D	0.000000	T	0.26268	0.0641	L	0.43152	1.355	0.46241	D	0.998942	B;B;P;P;B;B	0.42078	0.154;0.286;0.77;0.626;0.042;0.156	B;B;B;B;B;B	0.37387	0.08;0.082;0.248;0.156;0.055;0.167	T	0.02852	-1.1102	10	0.41790	T	0.15	.	7.4424	0.27192	0.1478:0.0:0.134:0.7181	.	553;553;552;553;553;553	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	G	553	ENSP00000393313:S553G;ENSP00000248070:S553G;ENSP00000440103:S553G	ENSP00000248070:S553G	S	-	1	0	EPS15L1	16374266	1.000000	0.71417	0.931000	0.37212	0.912000	0.54170	4.411000	0.59781	0.893000	0.36288	0.533000	0.62120	AGC		0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		C	16513266	T	C	16513266	3	2	11	1	0	0	0	0	1	0	0	0	5193	1609	56	2	969	2	EPS15L1	19	16513266	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10		16513266	42615717	48	825											
ZNF98	148198	mdanderson.org	37	chr19	22574547	22574547	+	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	gtgaggactggttaaaagctTtgccacattcttcacatttg	10	14	9	8	0	2	1	1	1	1	0	2	2	2	2	1	2	2	2	1	2	2	5			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr19:22574547T>A	ENST00000357774.5	-	4	1611	c.1490A>T	c.(1489-1491)aAa>aTa	p.K497I		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	497					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(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTTAAAAGCTTTGCCACATTC	0.403																																						.											0													75	67	70					19																	22574547		2185	4284	6469	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1490A>T	19.37:g.22574547T>A	ENSP00000350418:p.Lys497Ile			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	12.78	2.041722	0.35989	.	.	ENSG00000197360	ENST00000357774	T	0.35048	1.33	1.26	0.0148	0.14101	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57784	0.2077	M	0.87097	2.86	0.26544	N	0.974034	D	0.59767	0.986	D	0.74674	0.984	T	0.48198	-0.9056	9	0.87932	D	0	.	5.2489	0.15512	0.2563:0.0:0.0:0.7437	.	497	A6NK75	ZNF98_HUMAN	I	497	ENSP00000350418:K497I	ENSP00000350418:K497I	K	-	2	0	ZNF98	22366387	0.984000	0.35163	0.017000	0.16124	0.011000	0.07611	3.858000	0.55979	-0.306000	0.08818	-1.118000	0.02043	AAA		0.403	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		A	22574547	T	A	22574547	3	1	11	1	0	0	0	0	1	0	0	0	18200	1841	64	5	232	5	ZNF98	19	22574547	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	6061281	22574547	36554436	49	826											
ZNF416	55659	mdanderson.org	37	chr19	58084930	58084930	+	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	tcggtcaggtgcaaaatgtcGgtcaggaatgggacacacat	12	8	13	8	2	2	0	2	0	0	0	4	2	2	2	0	5	1	1	0	5	3	0	rs3746222	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr19:58084930G>A	ENST00000196489.3	-	4	564	c.342C>T	c.(340-342)acC>acT	p.T114T		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GCAAAATGTCGGTCAGGAATG	0.507													G|||	839	0.167532	0.202	0.1369	5008	,	,		20042	0.0942		0.2078	False		,,,				2504	0.1769					.											0								G		852,3554	334.4+/-303.4	76,700,1427	121	104	110		342	-2.1	0	19	dbSNP_107	110	1661,6939	307.2+/-308.3	153,1355,2792	no	coding-synonymous	ZNF416	NM_017879.1		229,2055,4219	AA,AG,GG		19.314,19.3373,19.3219		114/595	58084930	2513,10493	2203	4300	6503	SO:0001819	synonymous_variant	55659			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.342C>T	19.37:g.58084930G>A			Q9NWW8	Silent	SNP	ENST00000196489.3	37	CCDS12954.1																																																																																				0.507	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		A	58084930	G	A	58084930	2	1	11	1	0	0	0	0	0	0	0	1	17890	1103	39	1		1	ZNF416	19	58084930	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	35510383	58084930	1044053	50	827											
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385793	58385793	+	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	attctccacattcataaggtCttttcccagtgtgaactctc	9	15	5	12	0	4	1	1	1	3	0	7	1	5	1	2	1	1	0	2	1	2	5	rs113623532		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					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						TTCATAAGGTCTTTTCCCAGT	0.358																																						.											0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				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.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	11	1	0	0	0	0	1	0	0	0	18173	913	32	4	1606	4	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-KL-8333-01A-11D-2310-10	300863	58385793	743190	51	828											
SIRPG	55423	mdanderson.org	37	chr20	1617069	1617069	+	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	atgtctctgggagagaagccAtgggactcacaggtgaaact	12	8	13	8	0	2	2	1	1	1	1	3	5	2	4	1	3	2	0	1	3	2	0	rs2277761	byFrequency	TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr20:1617069A>G	ENST00000303415.3	-	3	577	c.513T>C	c.(511-513)caT>caC	p.H171H	SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Silent_p.H138H|SIRPG_ENST00000381583.2_Silent_p.H171H|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000216927.4_Silent_p.H171H	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	171	Ig-like C1-type 1.				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						GAGAGAAGCCATGGGACTCAC	0.557													a|||	1148	0.229233	0.1619	0.366	5008	,	,		19683	0.2103		0.2376	False		,,,				2504	0.2342					.											0								A	,,	726,3680		54,618,1531	149	133	138		513,513,	-4.2	0	20	dbSNP_100	138	2134,6466		266,1602,2432	no	coding-synonymous,coding-synonymous,intron	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	,,	320,2220,3963	GG,GA,AA		24.814,16.4775,21.9899	,,	171/277,171/388,	1617069	2860,10146	2203	4300	6503	SO:0001819	synonymous_variant	55423			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.513T>C	20.37:g.1617069A>G			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	37	CCDS13020.2																																																																																				0.557	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		G	1617069	A	G	1617069	2	3	11	1	0	0	0	0	0	0	0	1	14336	214	8	4		4	SIRPG	20	1617069	Silent	SNP	A	TCGA-KL-8333-01A-11D-2310-10		1617069	61408451	52	829											
C20orf117	140710	bcgsc.ca	37	chr20	35434275	35434275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgttctgggtccagctgTcccccgtgcaggccttgtta	3	12	12	14	2	1	0	0	0	1	0	3	0	3	0	5	2	2	4	5	2	1	3			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr20:35434275T>C	ENST00000357779.3	-	9	2512	c.2186A>G	c.(2185-2187)gAc>gGc	p.D729G	SOGA1_ENST00000279034.6_Missense_Mutation_p.D729G|SOGA1_ENST00000456801.2_Missense_Mutation_p.D570G|SOGA1_ENST00000237536.4_Missense_Mutation_p.D967G			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	729					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						GGTCCAGCTGTCCCCCGTGCA	0.488																																						.											0													92	94	94					20																	35434275		1964	4144	6108	SO:0001583	missense	140710			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.2186A>G	20.37:g.35434275T>C	ENSP00000350424:p.Asp729Gly		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	T	15.24	2.775899	0.49786	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.19394	2.15;2.2;2.2;2.2	5.27	5.27	0.74061	.	0.098624	0.64402	D	0.000002	T	0.17109	0.0411	L	0.34521	1.04	0.37209	D	0.904735	B	0.02656	0.0	B	0.06405	0.002	T	0.09975	-1.0650	10	0.23302	T	0.38	-39.071	14.3169	0.66457	0.0:0.0:0.0:1.0	.	729	O94964-4	.	G	967;729;570;729	ENSP00000237536:D967G;ENSP00000279034:D729G;ENSP00000413886:D570G;ENSP00000350424:D729G	ENSP00000237536:D967G	D	-	2	0	KIAA0889	34867689	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.552000	0.67281	2.216000	0.71823	0.460000	0.39030	GAC		0.488	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		C	35434275	T	C	35434275	3	2	11	1	0	0	0	0	1	0	0	0	2083	1667	58	2	2175	2	C20orf117	20	35434275	Missense_Mutation	SNP	T	TCGA-KL-8333-01A-11D-2310-10	33817206	35434275	27591245	53	830											
PRIC285	85441	broad.mit.edu	37	chr20	62194557	62194557	+	Frame_Shift_Del	DEL	A	A	-																															cactgcccagctcccgggccAcctccaggaaatggccacag																										TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr20:62194557delA	ENST00000467148.1	-	8	5687	c.5618delT	c.(5617-5619)gtgfs	p.V1873fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.V1304fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1873				V -> A (in Ref. 2; BAE46995). {ECO:0000305}.	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)										CTCCCGGGCCACCTCCAGGAA	0.701																																						.											0													7	8	7					20																	62194557		2134	4206	6340	SO:0001589	frameshift_variant	85441			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.5618delT	20.37:g.62194557delA	ENSP00000417401:p.Val1873fs		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	CCDS33508.1																																																																																				0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		-	62194557	A	-	62194557	7	5	11	1	0	1	0	1	0	0	0	0	12485	159	6	0	2379	0	PRIC285	20	62194557	Frame_Shift_Del	DEL	A	TCGA-KL-8333-01A-11D-2310-10	26760282	62194557	830963	54	831											
CCDC157	550631	broad.mit.edu	37	chr22	30766573	30766573	+	Missense_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	cctgtgacgcatgcgccagcGtccagggaagcctgcagaag	9	5	14	13	3	0	2	0	1	0	1	1	3	1	3	4	1	4	2	4	1	2	0	rs370198354		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chr22:30766573G>A	ENST00000405659.1	+	5	1388	c.679G>A	c.(679-681)Gtc>Atc	p.V227I	CCDC157_ENST00000338306.3_Missense_Mutation_p.V227I			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	227										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ATGCGCCAGCGTCCAGGGAAG	0.617																																						.											0													81	69	73					22																	30766573		2203	4300	6503	SO:0001583	missense	550631			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.679G>A	22.37:g.30766573G>A	ENSP00000385357:p.Val227Ile		Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838226	0.71373	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.27720	1.65;1.65	5.54	4.53	0.55603	.	0.136815	0.47852	D	0.000203	T	0.37237	0.0996	L	0.56769	1.78	0.80722	D	1	D	0.61697	0.99	P	0.47075	0.536	T	0.29518	-1.0009	10	0.51188	T	0.08	-46.0966	14.4936	0.67667	0.0698:0.0:0.9302:0.0	.	227	Q569K6	CC157_HUMAN	I	227	ENSP00000385357:V227I;ENSP00000343087:V227I	ENSP00000343087:V227I	V	+	1	0	CCDC157	29096573	0.982000	0.34865	0.965000	0.40720	0.155000	0.21991	1.856000	0.39389	1.586000	0.49944	-0.136000	0.14681	GTC		0.617	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		A	30766573	G	A	30766573	3	1	11	1	0	0	0	0	1	0	0	0	2789	1145	40	1	689	1	CCDC157	22	30766573	Missense_Mutation	SNP	G	TCGA-KL-8333-01A-11D-2310-10		30766573	20537993	55	832											
UBA1	7317	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	47062169	47062169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggggatctggcacccAtaaacgccttcattgggggc	7	9	13	12	1	2	0	1	0	1	0	2	1	2	1	2	5	2	2	2	5	2	3			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chrX:47062169A>G	ENST00000335972.6	+	11	1372	c.1189A>G	c.(1189-1191)Ata>Gta	p.I397V	INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Missense_Mutation_p.I397V|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	397	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCTGGCACCCATAAACGCCTT	0.602																																						.											0													37	31	33					X																	47062169		2203	4299	6502	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1189A>G	X.37:g.47062169A>G	ENSP00000338413:p.Ile397Val		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	A	8.371	0.835280	0.16820	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.44482	0.92;0.92	4.85	3.71	0.42584	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.141737	0.64402	D	0.000008	T	0.18964	0.0455	N	0.05177	-0.1	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06285	-1.0835	10	0.30854	T	0.27	-4.3445	6.4032	0.21650	0.825:0.0:0.175:0.0	.	397	P22314	UBA1_HUMAN	V	397	ENSP00000366568:I397V;ENSP00000338413:I397V	ENSP00000338413:I397V	I	+	1	0	UBA1	46947113	0.061000	0.20836	0.742000	0.31022	0.959000	0.62525	0.558000	0.23469	1.921000	0.55644	0.427000	0.28365	ATA		0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		G	47062169	A	G	47062169	3	3	11	1	0	0	0	0	1	0	0	0	16824	217	8	4	1227	4	UBA1	23	47062169	Missense_Mutation	SNP	A	TCGA-KL-8333-01A-11D-2310-10		47062169	108208391	56	833											
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-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	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																																					NSCLC(90;1817 2035 37909 38249)	.											8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)											52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685			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			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	11	1	0	0	0	0	0	0	0	1	10726	991	35	4		4	NUDT10	23	51076024	Silent	SNP	G	TCGA-KL-8333-01A-11D-2310-10	4013855	51076024	104194536	57	834											
GPR112	139378	broad.mit.edu	37	chrX	135429078	135429078	+	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	ccacctttggatcagactgcTtccacaaccattgttattgt	9	14	6	12	0	1	1	1	0	0	1	2	2	2	2	4	1	2	2	4	1	2	5			TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chrX:135429078T>C	ENST00000394143.1	+	6	3504	c.3213T>C	c.(3211-3213)gcT>gcC	p.A1071A	GPR112_ENST00000370652.1_Silent_p.A1071A|GPR112_ENST00000394141.1_Silent_p.A866A|GPR112_ENST00000287534.4_Silent_p.A1008A|GPR112_ENST00000412101.1_Silent_p.A866A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1071					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)					ATCAGACTGCTTCCACAACCA	0.473																																						.											0													269	248	255					X																	135429078		2203	4300	6503	SO:0001819	synonymous_variant	139378			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.3213T>C	X.37:g.135429078T>C			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135429078	T	C	135429078	2	2	11	1	0	0	0	0	0	0	0	1	6629	1596	56	2		2	GPR112	23	135429078	Silent	SNP	T	TCGA-KL-8333-01A-11D-2310-10	84353054	135429078	19841482	58	835											
ABCD1	215	mdanderson.org	37	chrX	153008675	153008675	+	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	ctctcggcccggacccccagGcccaagtacgccctcctgga	6	5	10	20	3	1	0	0	0	1	0	3	2	2	2	6	4	1	1	6	4	2	1	rs201197921		TCGA-KL-8333-01A-11D-2310-10	TCGA-KL-8333-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c56505cb-e150-408d-9df6-3af4e608c376	422375ba-7c98-42a5-b8cc-f88084a938f6	g.chrX:153008675G>A	ENST00000218104.3	+	9	2265	c.1866G>A	c.(1864-1866)agG>agA	p.R622R	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	622	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)					GGACCCCCAGGCCCAAGTACG	0.672																																						.											0													14	14	14					X																	153008675		2201	4290	6491	SO:0001630	splice_region_variant	215			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.1866-1G>A	X.37:g.153008675G>A			Q6GTZ2	Silent	SNP	ENST00000218104.3	37	CCDS14728.1																																																																																				0.672	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	Silent	A	153008675	G	A	153008675	5	1	11	1	0	0	0	0	0	0	1	0	60	1217	42	3	1900	3	ABCD1	23	153008675	Splice_Site	SNP	G	TCGA-KL-8333-01A-11D-2310-10	17579597	153008675	2261885	59	836											
PDZK1IP1	10158	broad.mit.edu	37	chr1	47653017	47653017	+	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	tcctggcaccagaagtggttGactgcaaaggcgattgcaac	11	8	12	10	1	0	2	0	1	0	1	1	3	1	2	2	3	3	4	2	3	3	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:47653017G>A	ENST00000294338.2	-	2	272	c.150C>T	c.(148-150)gtC>gtT	p.V50V	PDZK1IP1_ENST00000371885.1_Silent_p.V50V|PDZK1IP1_ENST00000491793.1_5'Flank	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	50						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)	3						AGAAGTGGTTGACTGCAAAGG	0.622																																						.											0													64	55	58					1																	47653017		2202	4299	6501	SO:0001819	synonymous_variant	10158			U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.150C>T	1.37:g.47653017G>A			Q6ICT9|Q96EI1	Silent	SNP	ENST00000294338.2	37	CCDS546.1																																																																																				0.622	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021655.1	NM_005764		A	47653017	G	A	47653017	2	1	12	1	0	0	0	0	0	0	0	1	11708	1277	45	4		4	PDZK1IP1	1	47653017	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10		47653017	201597604	1	837											
USH2A	7399	broad.mit.edu	37	chr1	216219788	216219788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgtgactatgtagtTctcctcactgcctgaataga	9	14	7	11	0	2	3	1	2	1	1	3	3	2	3	3	0	2	2	3	0	5	5			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:216219788T>C	ENST00000307340.3	-	32	6696	c.6310A>G	c.(6310-6312)Aac>Gac	p.N2104D	USH2A_ENST00000366943.2_Missense_Mutation_p.N2104D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2104	Fibronectin type-III 7. {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)		ACTATGTAGTTCTCCTCACTG	0.403										HNSCC(13;0.011)																												.											0													107	90	96					1																	216219788		2203	4300	6503	SO:0001583	missense	7399			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.6310A>G	1.37:g.216219788T>C	ENSP00000305941:p.Asn2104Asp		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	1.716	-0.497836	0.04291	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.42	4.28	0.50868	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.412679	0.20460	N	0.091907	T	0.41673	0.1169	L	0.46741	1.465	0.09310	N	0.999998	B	0.09022	0.002	B	0.08055	0.003	T	0.15723	-1.0427	10	0.29301	T	0.29	.	7.6799	0.28507	0.0:0.158:0.0:0.842	.	2104	O75445	USH2A_HUMAN	D	2104	ENSP00000305941:N2104D;ENSP00000355910:N2104D	ENSP00000305941:N2104D	N	-	1	0	USH2A	214286411	0.421000	0.25465	0.989000	0.46669	0.074000	0.17049	1.333000	0.33816	2.187000	0.69744	0.528000	0.53228	AAC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216219788	T	C	216219788	3	2	12	1	0	0	0	0	1	0	0	0	17033	1783	62	4	9462	4	USH2A	1	216219788	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	168566771	216219788	33030833	2	838											
ENAH	55740	broad.mit.edu	37	chr1	225702514	225702515	+	Frame_Shift_Ins	INS	-	-	G																															gaggaggtggagggggccctINSgggggaggagggagggctac																										TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:225702514_225702515insG	ENST00000366844.3	-	7	1452_1453	c.1001_1002insC	c.(1000-1002)ccafs	p.P334fs	ENAH_ENST00000284563.6_Frame_Shift_Ins_p.P581fs|ENAH_ENST00000366843.2_Frame_Shift_Ins_p.P334fs	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	334	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gagggggccctgggggaggagg	0.658																																						.											0																																										SO:0001589	frameshift_variant	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1002dupC	1.37:g.225702519_225702519dupG	ENSP00000355809:p.Pro334fs		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Frame_Shift_Ins	INS	ENST00000366844.3	37	CCDS31041.1																																																																																				0.658	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		G	225702515	-	G	225702514	7	5	12	1	0	1	1	0	0	0	0	0	5111	1567	55	0	809	0	ENAH	1	225702514	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10	9482726	225702514	23548107	3	839											
TRIM11	81559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	228582602	228582602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtccagaaagatccccAcgcgcctgggtgggtcccgg	7	6	14	14	4	0	2	0	0	0	2	3	2	3	2	5	3	0	1	5	3	2	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:228582602A>G	ENST00000284551.6	-	6	1489	c.1211T>C	c.(1210-1212)gTg>gCg	p.V404A	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Missense_Mutation_p.V279A|TRIM11_ENST00000460651.1_5'UTR	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	404	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|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 viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				AAAGATCCCCACGCGCCTGGG	0.597																																						.											0													71	79	76					1																	228582602		2203	4300	6503	SO:0001583	missense	81559			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1211T>C	1.37:g.228582602A>G	ENSP00000284551:p.Val404Ala		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943345	0.53079	.	.	ENSG00000154370	ENST00000284551	T	0.75589	-0.95	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43747	D	0.000540	D	0.87410	0.6170	M	0.90650	3.135	0.80722	D	1	P;D	0.60575	0.912;0.988	P;D	0.70935	0.741;0.971	D	0.89783	0.3962	10	0.87932	D	0	.	12.5428	0.56182	1.0:0.0:0.0:0.0	.	403;404	Q96F44-3;Q96F44	.;TRI11_HUMAN	A	404	ENSP00000284551:V404A	ENSP00000284551:V404A	V	-	2	0	TRIM11	226649225	0.970000	0.33590	0.691000	0.30163	0.025000	0.11179	8.827000	0.92041	1.920000	0.55613	0.496000	0.49642	GTG		0.597	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		G	228582602	A	G	228582602	3	3	12	1	0	0	0	0	1	0	0	0	16484	159	6	2	199	2	TRIM11	1	228582602	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	2880088	228582602	20668019	4	840											
SLC1A4	6509	ucsc.edu	37	chr2	65217143	65217143	+	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	atcgctgtcgcctactttggCctcaccacactgagtgcctc	6	11	8	16	2	1	1	1	1	0	0	4	1	1	1	4	1	2	1	4	1	1	2	rs561935539		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:65217143C>A	ENST00000234256.3	+	1	609	c.366C>A	c.(364-366)ggC>ggA	p.G122G	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	122					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTACTTTGGCCTCACCACAC	0.682																																						.											0													16	18	17					2																	65217143		2203	4300	6503	SO:0001819	synonymous_variant	6509				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.366C>A	2.37:g.65217143C>A			B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	CCDS1879.1																																																																																				0.682	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		A	65217143	C	A	65217143	2	1	12	1	0	0	0	0	0	0	0	1	14434	726	26	5		5	SLC1A4	2	65217143	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10		65217143	177982230	5	841											
MPHOSPH10	10199	bcgsc.ca	37	chr2	71357850	71357850	+	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	agcggtgtctgacggaagtcGgcaaagccacgggtcggccc	8	5	16	12	5	1	1	0	1	1	0	3	2	1	2	2	5	2	1	2	5	2	0			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:71357850G>A	ENST00000244230.2	+	1	407	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	MPHOSPH10_ENST00000468427.1_3'UTR|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.G19S|MCEE_ENST00000244217.5_5'Flank	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	19					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GACGGAAGTCGGCAAAGCCAC	0.672																																						.											0													24	25	25					2																	71357850		2202	4297	6499	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.55G>A	2.37:g.71357850G>A	ENSP00000244230:p.Gly19Ser		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098617	0.20552	.	.	ENSG00000124383	ENST00000244230	T	0.09350	2.99	3.75	-3.11	0.05299	.	0.598323	0.17691	N	0.165270	T	0.07188	0.0182	L	0.53249	1.67	0.09310	N	0.999994	B;B	0.19583	0.035;0.037	B;B	0.12837	0.005;0.008	T	0.45498	-0.9257	10	0.09843	T	0.71	.	5.4531	0.16576	0.5603:0.1586:0.2811:0.0	.	19;19	B3KPV5;O00566	.;MPP10_HUMAN	S	19	ENSP00000244230:G19S	ENSP00000244230:G19S	G	+	1	0	MPHOSPH10	71211358	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	0.095000	0.15127	-0.753000	0.04721	-0.259000	0.10710	GGC		0.672	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		A	71357850	G	A	71357850	3	1	12	1	0	0	0	0	1	0	0	0	9725	1116	39	1	57	1	MPHOSPH10	2	71357850	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	6140707	71357850	171841523	6	842											
NBEAL1	65065	broad.mit.edu	37	chr2	204055051	204055051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttaacagatgagaaagAaagaaaagccttagaaggga	19	6	11	5	0	0	5	0	1	0	5	0	7	0	6	2	1	3	0	2	1	7	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:204055051A>G	ENST00000449802.1	+	45	7106	c.6773A>G	c.(6772-6774)gAa>gGa	p.E2258G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2258	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						GATGAGAAAGAAAGAAAAGCC	0.353																																						.											0													105	106	105					2																	204055051		1852	4092	5944	SO:0001583	missense	65065			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.6773A>G	2.37:g.204055051A>G	ENSP00000399903:p.Glu2258Gly		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.680066	0.88542	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	D;D	0.81499	-1.5;-1.5	5.21	5.21	0.72293	BEACH domain (4);	0.048085	0.85682	D	0.000000	D	0.92001	0.7466	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.93688	0.7004	10	0.59425	D	0.04	.	15.036	0.71748	1.0:0.0:0.0:0.0	.	2258;2247	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	G	2258;2258;273	ENSP00000399903:E2258G;ENSP00000388466:E273G	ENSP00000344985:E2258G	E	+	2	0	NBEAL1	203763296	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.791000	0.91849	2.091000	0.63221	0.377000	0.23210	GAA		0.353	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			G	204055051	A	G	204055051	3	3	12	1	0	0	0	0	1	0	0	0	10188	246	9	4	6947	4	NBEAL1	2	204055051	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	132697201	204055051	39144322	7	843											
EEF1B2	1933	hgsc.bcm.edu	37	chr2	207027464	207027464	+	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	tctttttagctaaactagttCcagtgggatacggaattaag	12	14	9	6	1	1	0	0	0	1	0	2	2	2	2	1	2	3	2	1	2	7	8			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:207027464C>T	ENST00000392222.2	+	6	910	c.535C>T	c.(535-537)Cca>Tca	p.P179S	EEF1B2_ENST00000236957.5_Missense_Mutation_p.P179S|SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.P179S	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	179					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TAAACTAGTTCCAGTGGGATA	0.358																																						.											0													79	86	83					2																	207027464		2203	4300	6503	SO:0001583	missense	1933			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.535C>T	2.37:g.207027464C>T	ENSP00000376056:p.Pro179Ser		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787326	0.90367	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222	.	.	.	5.2	5.2	0.72013	Translation elongation factor EF1B/ribosomal protein S6 (1);Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange (3);	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	M	0.82433	2.59	0.80722	D	1	P	0.48294	0.908	D	0.68483	0.958	D	0.85972	0.1477	9	0.87932	D	0	-1.39	18.7341	0.91748	0.0:1.0:0.0:0.0	.	179	P24534	EF1B_HUMAN	S	179	.	ENSP00000236957:P179S	P	+	1	0	EEF1B2	206735709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.435000	0.82474	0.655000	0.94253	CCA		0.358	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		T	207027464	C	T	207027464	3	4	12	1	0	0	0	0	1	0	0	0	4925	855	30	3	557	3	EEF1B2	2	207027464	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	2972413	207027464	36171909	8	844											
SLC23A3	151295	ucsc.edu	37	chr2	220030023	220030023	+	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	caggcatgtggaggtgggggAggcaaatgcagcagccggcc	9	4	19	9	1	0	0	0	0	0	0	0	2	0	2	2	7	3	4	2	7	1	0			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:220030023A>G	ENST00000409878.3	-	8	1067	c.1035T>C	c.(1033-1035)ccT>ccC	p.P345P	SLC23A3_ENST00000455516.2_Silent_p.P353P|SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	345					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGTGGGGGAGGCAAATGCA	0.672																																						.											0													23	34	30					2																	220030023		692	1591	2283	SO:0001819	synonymous_variant	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1035T>C	2.37:g.220030023A>G			B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	CCDS46518.1																																																																																				0.672	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		G	220030023	A	G	220030023	2	3	12	1	0	0	0	0	0	0	0	1	14464	291	11	2		2	SLC23A3	2	220030023	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	13002559	220030023	23169350	9	845											
COL4A3	1285	broad.mit.edu	37	chr2	228112294	228112294	+	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	ggtgctgctggtttgaaaggAcaaaaggtaagtcattggtg	11	11	15	4	0	1	1	1	1	0	0	1	2	1	2	0	5	2	4	0	5	4	3			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:228112294A>G	ENST00000396578.3	+	8	624	c.462A>G	c.(460-462)ggA>ggG	p.G154G	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	154	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTTTGAAAGGACAAAAGGTAA	0.403																																						.											0													346	368	361					2																	228112294		1957	4142	6099	SO:0001819	synonymous_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.462A>G	2.37:g.228112294A>G			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	CCDS42829.1																																																																																				0.403	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		G	228112294	A	G	228112294	2	3	12	1	0	0	0	0	0	0	0	1	3691	262	10	2		2	COL4A3	2	228112294	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	8082271	228112294	15087079	10	846											
COPS8	10920	broad.mit.edu	37	chr2	238004481	238004481	+	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	ttaggcatattagaacaaggAtggcaagctgattccaccac	14	9	9	9	0	0	2	0	1	0	1	1	3	1	3	2	3	2	3	2	3	6	4			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:238004481A>G	ENST00000354371.2	+	6	1109	c.456A>G	c.(454-456)ggA>ggG	p.G152G	COPS8_ENST00000409334.1_Silent_p.G116G|COPS8_ENST00000409629.1_Silent_p.G149G|COPS8_ENST00000392008.2_Silent_p.G103G	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	152					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		TAGAACAAGGATGGCAAGCTG	0.423																																						.											0													129	120	123					2																	238004481		2203	4300	6503	SO:0001819	synonymous_variant	10920				CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.456A>G	2.37:g.238004481A>G			A8K1H6|Q53QS9	Silent	SNP	ENST00000354371.2	37	CCDS2517.1																																																																																				0.423	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		G	238004481	A	G	238004481	2	3	12	1	0	0	0	0	0	0	0	1	3740	320	12	4		4	COPS8	2	238004481	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	9892187	238004481	5194892	11	847											
AZI2	64343	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	28365568	28365568	+	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	gcagttctgattatgttgatCcaagtaatgcagtggtggaa	11	13	12	5	0	1	2	0	2	1	0	2	3	2	3	1	2	1	5	1	2	4	4			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:28365568C>T	ENST00000479665.1	-	8	1675	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	AZI2_ENST00000295748.3_5'UTR|CMC1_ENST00000466830.1_3'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	382					dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTATGTTGATCCAAGTAATGC	0.393																																						.											0													130	133	132					3																	28365568		2203	4299	6502	SO:0001583	missense	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.1144G>A	3.37:g.28365568C>T	ENSP00000419371:p.Asp382Asn		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668401	0.88348	.	.	ENSG00000163512	ENST00000479665	.	.	.	5.94	5.94	0.96194	.	0.114416	0.64402	D	0.000016	T	0.76891	0.4051	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77923	-0.2406	9	0.87932	D	0	-10.089	15.1295	0.72511	0.1413:0.8587:0.0:0.0	.	382	Q9H6S1	AZI2_HUMAN	N	382	.	ENSP00000419371:D382N	D	-	1	0	AZI2	28340572	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.282000	0.51693	2.820000	0.97059	0.650000	0.86243	GAT		0.393	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		T	28365568	C	T	28365568	3	4	12	1	0	0	0	0	1	0	0	0	1241	855	30	3	38	3	AZI2	3	28365568	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10		28365568	169656862	12	848											
OR5H1	26341	mdanderson.org	37	chr3	97851892	97851892	+	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	gaatgttttctcttggcaacGatggcatatgatcgctatgt	9	15	10	7	2	1	1	0	1	1	0	3	3	1	1	0	2	1	4	0	2	4	5	rs5009897		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:97851892G>A	ENST00000354565.2	+	1	351	c.351G>A	c.(349-351)acG>acA	p.T117T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	117						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCTTGGCAACGATGGCATATG	0.388																																						.											0													154	148	150					3																	97851892		2202	4299	6501	SO:0001819	synonymous_variant	26341			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.351G>A	3.37:g.97851892G>A				Silent	SNP	ENST00000354565.2	37	CCDS33797.1																																																																																				0.388	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		A	97851892	G	A	97851892	2	1	12	1	0	0	0	0	0	0	0	1	11159	1045	37	1		1	OR5H1	3	97851892	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10	69486324	97851892	100170538	13	849											
KALRN	8997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	124201729	124201729	+	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	cctgtccaaaggatcaccaaAtatcaactgctcctgaaggt	13	9	7	12	0	2	1	2	1	0	0	4	2	4	2	4	2	2	1	4	2	5	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:124201729A>T	ENST00000240874.3	+	28	4417	c.4260A>T	c.(4258-4260)aaA>aaT	p.K1420N	KALRN_ENST00000460856.1_Missense_Mutation_p.K1411N|KALRN_ENST00000360013.3_Missense_Mutation_p.K1420N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1420	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						GGATCACCAAATATCAACTGC	0.537																																						.											0													252	200	217					3																	124201729		2203	4300	6503	SO:0001583	missense	8997			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.4260A>T	3.37:g.124201729A>T	ENSP00000240874:p.Lys1420Asn		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.43|19.43	3.826148|3.826148	0.71143|0.71143	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.31|5.31	3.47|3.47	0.39725|0.39725	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86814|0.86814	0.6023|0.6023	H|H	0.98199|0.98199	4.17|4.17	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.997;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.991;1.0|.	D|D	0.89291|0.89291	0.3619|0.3619	10|5	0.87932|.	D|.	0|.	.|.	10.1107|10.1107	0.42561|0.42561	0.2349:0.0:0.7651:0.0|0.2349:0.0:0.7651:0.0	.|.	1411;766;1420;1420|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	N|I	1411;1420;1420|1389	ENSP00000418611:K1411N;ENSP00000240874:K1420N;ENSP00000353109:K1420N|.	ENSP00000240874:K1420N|.	K|N	+|+	3|2	2|0	KALRN|KALRN	125684419|125684419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	2.240000|2.240000	0.43088|0.43088	1.449000|1.449000	0.47699|0.47699	-0.242000|-0.242000	0.12053|0.12053	AAA|AAT		0.537	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	124201729	A	T	124201729	3	4	12	1	0	0	0	0	1	0	0	0	7975	98	4	5	4370	5	KALRN	3	124201729	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	26349837	124201729	73820701	14	850											
EPHB1	2047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	134873005	134873005	+	Missense_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	tctccacagccccctccaccGttcccatcatgcaccaagtc	8	8	4	21	1	2	0	1	0	1	0	6	0	4	0	7	0	2	2	7	0	1	1	rs183234182		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:134873005G>A	ENST00000398015.3	+	6	1679	c.1309G>A	c.(1309-1311)Gtt>Att	p.V437I	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	437	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCCTCCACCGTTCCCATCAT	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		20316	0		0	False		,,,				2504	0					.											0								G	ILE/VAL	0,4304		0,0,2152	199	212	207		1309	5	1	3		207	1,8563		0,1,4281	no	missense	EPHB1	NM_004441.4	29	0,1,6433	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	437/985	134873005	1,12867	2152	4282	6434	SO:0001583	missense	2047			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.1309G>A	3.37:g.134873005G>A	ENSP00000381097:p.Val437Ile		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.63	3.862742	0.71949	0.0	1.17E-4	ENSG00000154928	ENST00000398015	T	0.55588	0.51	5.0	5.0	0.66597	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.066621	0.64402	D	0.000014	T	0.50922	0.1644	M	0.64997	1.995	0.80722	D	1	P	0.42556	0.783	B	0.36885	0.235	T	0.56408	-0.7984	10	0.41790	T	0.15	.	18.0819	0.89443	0.0:0.0:1.0:0.0	.	437	P54762	EPHB1_HUMAN	I	437	ENSP00000381097:V437I	ENSP00000381097:V437I	V	+	1	0	EPHB1	136355695	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.610000	0.88304	0.655000	0.94253	GTT		0.532	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		A	134873005	G	A	134873005	3	1	12	1	0	0	0	0	1	0	0	0	5174	1145	40	1	1331	1	EPHB1	3	134873005	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	10671276	134873005	63149425	15	851											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1389130	1389130	+	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	ctgctcacgtgccgatgtggGgtgcccgcctgctcacatgt	4	10	13	14	3	2	0	2	0	0	0	2	1	2	0	3	2	4	2	3	2	0	0			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr4:1389130G>A	ENST00000324803.4	+	1	3791	c.831G>A	c.(829-831)ggG>ggA	p.G277G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	277					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G277G(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGATGTGGGGTGCCCGCCT	0.687																																						.											1	Substitution - coding silent(1)	lung(1)											154	143	147					4																	1389130		2202	4299	6501	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.831G>A	4.37:g.1389130G>A			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.687	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		A	1389130	G	A	1389130	2	1	12	1	0	0	0	0	0	0	0	1	3877	1219	43	3		3	CRIPAK	4	1389130	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10		1389130	189765146	16	852											
UCHL1	7345	mdanderson.org	37	chr4	41259633	41259633	+	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	ctcctctccgcaggtgctgtCccggctgggggtcgccggcc	1	8	15	17	4	1	0	0	0	1	0	5	0	3	0	5	5	1	3	5	5	0	0	rs5030732	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr4:41259633C>A	ENST00000284440.4	+	3	197	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	UCHL1-AS1_ENST00000507190.1_RNA|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Missense_Mutation_p.S18Y|UCHL1-AS1_ENST00000510073.1_RNA|UCHL1_ENST00000503431.1_Missense_Mutation_p.S18Y|UCHL1_ENST00000508768.1_Missense_Mutation_p.S18Y	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	18			S -> Y (found in patients with cataract; unknown pathological significance; loss of dimerization ability; impaired ligase activity; confers an antioxidant protective function when expressed at physiological levels in neuroblastoma cells and primary cortical neurons; dbSNP:rs5030732). {ECO:0000269|PubMed:10203348, ECO:0000269|PubMed:11027850, ECO:0000269|PubMed:15048890, ECO:0000269|PubMed:16450370, ECO:0000269|PubMed:21268678}.		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						CAGGTGCTGTCCCGGCTGGGG	0.766													C|||	1272	0.253994	0.0121	0.2939	5008	,	,		10899	0.5437		0.1809	False		,,,				2504	0.3292					.											0			GRCh37	CM994452	UCHL1	M	rs5030732	C	TYR/SER	114,4064		2,110,1977	6	8	7	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	53	2.8	0.9	4	dbSNP_113	7	1114,7164		61,992,3086	no	missense	UCHL1	NM_004181.4	144	63,1102,5063	AA,AC,CC		13.4574,2.7286,9.8587	benign	18/224	41259633	1228,11228	2089	4139	6228	SO:0001583	missense	7345			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.53C>A	4.37:g.41259633C>A	ENSP00000284440:p.Ser18Tyr		Q4W5K6|Q71UM0	Missense_Mutation	SNP	ENST00000284440.4	37	CCDS3462.1	528	0.24175824175824176	16	0.032520325203252036	97	0.26795580110497236	282	0.493006993006993	133	0.17546174142480211	C	8.406	0.842968	0.16963	0.027286	0.134574	ENSG00000154277	ENST00000514924;ENST00000503431;ENST00000284440;ENST00000508768;ENST00000512788	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	3.7	2.84	0.33178	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	1.003210	0.08035	N	0.994193	T	0.00012	0.0000	L	0.37697	1.125	0.28202	P	0.9273172	P	0.38300	0.626	B	0.36567	0.228	T	0.44406	-0.9330	9	0.23891	T	0.37	-1.0546	13.1671	0.59577	0.0:0.8388:0.1611:0.0	rs5030732	18	P09936	UCHL1_HUMAN	Y	18	ENSP00000426634:S18Y;ENSP00000422542:S18Y;ENSP00000284440:S18Y;ENSP00000426895:S18Y;ENSP00000423623:S18Y	ENSP00000284440:S18Y	S	+	2	0	UCHL1	40954390	0.422000	0.25473	0.940000	0.37924	0.849000	0.48306	1.040000	0.30278	0.724000	0.32296	0.462000	0.41574	TCC		0.766	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216827.1	NM_004181		A	41259633	C	A	41259633	3	1	12	1	0	0	0	0	1	0	0	0	16917	855	30	5	63	5	UCHL1	4	41259633	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	39870503	41259633	149894643	17	853											
DOCK2	1794	ucsc.edu	37	chr5	169504838	169504838	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcaagcctacctcagAgaggtcagtccctgcacccc	9	5	8	19	0	2	1	2	0	0	1	3	2	3	1	7	1	4	2	7	1	2	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr5:169504838A>G	ENST00000256935.8	+	48	5071	c.4991A>G	c.(4990-4992)gAg>gGg	p.E1664G	DOCK2_ENST00000520908.1_Missense_Mutation_p.E1156G|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E725G	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1664					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTACCTCAGAGAGGTCAGTC	0.592																																						.											0													86	78	81					5																	169504838		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4991A>G	5.37:g.169504838A>G	ENSP00000256935:p.Glu1664Gly		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531198	0.45073	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09723	3.61;3.25;2.95	5.08	5.08	0.68730	.	0.281154	0.34959	N	0.003556	T	0.07999	0.0200	N	0.24115	0.695	0.46011	D	0.998817	B;B;B	0.30511	0.058;0.282;0.181	B;B;B	0.26770	0.045;0.05;0.073	T	0.35674	-0.9779	10	0.25106	T	0.35	.	13.9017	0.63809	1.0:0.0:0.0:0.0	.	1156;220;1664	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	G	1664;1156;725	ENSP00000256935:E1664G;ENSP00000429283:E1156G;ENSP00000438827:E725G	ENSP00000256935:E1664G	E	+	2	0	DOCK2	169437416	1.000000	0.71417	0.976000	0.42696	0.438000	0.31896	7.695000	0.84257	1.935000	0.56089	0.456000	0.33151	GAG		0.592	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		G	169504838	A	G	169504838	3	3	12	1	0	0	0	0	1	0	0	0	4687	304	11	2	5181	2	DOCK2	5	169504838	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10		169504838	11410422	18	854											
HLA-C	3107	mdanderson.org	37	chr6	31238009	31238009	+	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	cagctcagggtgaggggctcTtgcagcccctcgtgctgcat	5	9	14	13	1	2	1	1	1	1	0	3	1	2	1	2	3	5	5	2	3	0	1	rs1131014	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:31238009T>C	ENST00000376228.5	-	4	887	c.873A>G	c.(871-873)caA>caG	p.Q291Q	HLA-C_ENST00000383329.3_Silent_p.Q291Q	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	291	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)|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)			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						TGAGGGGCTCTTGCAGCCCCT	0.592													C|||	2561	0.511382	0.6172	0.549	5008	,	,		13431	0.5744		0.4404	False		,,,				2504	0.3497					.											0													23	30	28					6																	31238009		2121	4194	6315	SO:0001819	synonymous_variant	3107			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.873A>G	6.37:g.31238009T>C			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	872	0.3992673992673993	230	0.46747967479674796	148	0.4088397790055249	255	0.4458041958041958	239	0.3153034300791557	.	0.019	-1.465537	0.01053	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.67	-5.33	0.02713	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.53005	P	3.799999999998249E-5	.	.	.	.	.	.	T	0.24154	-1.0168	3	.	.	.	.	2.6503	0.04996	0.1827:0.239:0.4507:0.1277	rs41551714	.	.	.	R	255	.	.	K	-	2	0	HLA-C	31345988	0.000000	0.05858	0.108000	0.21378	0.013000	0.08279	-3.876000	0.00344	-1.974000	0.00998	-0.711000	0.03637	AAG		0.592	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238009	T	C	31238009	2	2	12	1	0	0	0	0	0	0	0	1	7197	1606	56	2		2	HLA-C	6	31238009	Silent	SNP	T	TCGA-KL-8334-01A-11D-2310-10		31238009	139877058	19	855											
EHMT2	10919	broad.mit.edu;bcgsc.ca	37	chr6	31848574	31848574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcacacaggtggttgatgaAgcggctgatgttgccatagt	9	11	14	7	1	1	3	1	3	0	0	1	3	1	3	1	3	2	3	1	3	2	3			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:31848574A>G	ENST00000375537.4	-	27	3334	c.3328T>C	c.(3328-3330)Ttc>Ctc	p.F1110L	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Missense_Mutation_p.F1167L|EHMT2_ENST00000375528.4_Missense_Mutation_p.F1133L|EHMT2_ENST00000375530.4_Missense_Mutation_p.F1076L|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000375562.4_5'Flank|SLC44A4_ENST00000229729.6_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1110	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						TGGTTGATGAAGCGGCTGATG	0.572																																						.											0													168	122	138					6																	31848574		2203	4300	6503	SO:0001583	missense	10919			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.3328T>C	6.37:g.31848574A>G	ENSP00000364687:p.Phe1110Leu		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782755	0.90282	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.35	4.35	0.52113	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.89276	0.6669	M	0.82823	2.61	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;0.998;1.0;0.999	D	0.90970	0.4819	10	0.87932	D	0	.	12.9305	0.58284	1.0:0.0:0.0:0.0	.	1133;1076;1110;931	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1167;1133;1076;1110;931	ENSP00000379078:F1167L;ENSP00000364678:F1133L;ENSP00000364680:F1076L;ENSP00000364687:F1110L	ENSP00000364678:F1133L	F	-	1	0	EHMT2	31956553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.607000	0.90891	1.963000	0.57068	0.533000	0.62120	TTC		0.572	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		G	31848574	A	G	31848574	3	3	12	1	0	0	0	0	1	0	0	0	4984	72	3	2	312	2	EHMT2	6	31848574	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	610565	31848574	139266493	20	856											
HLA-DQA1	3117	bcgsc.ca	37	chr6	32609173	32609173	+	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	atgaatttgatggagatgagCagttctacgtggacctggag	11	11	14	5	1	1	4	0	3	1	1	1	7	1	6	1	3	2	2	1	3	2	3	rs10093	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:32609173C>G	ENST00000343139.5	+	2	271	c.169C>G	c.(169-171)Cag>Gag	p.Q57E	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.Q57E|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.Q57E	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	57	Alpha-1.		Q -> E (in allele DQA1*01:01, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03; dbSNP:rs10093).		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						TGGAGATGAGCAGTTCTACGT	0.522													.|||	2020	0.403355	0.2958	0.4827	5008	,	,		13590	0.4216		0.4483	False		,,,				2504	0.4274					.											0								G	GLU/GLN	997,3405		292,413,1496	126	105	112		169	-7.7	0	6	dbSNP_52	112	2498,6052		852,794,2629	yes	missense	HLA-DQA1	NM_002122.3	29	1144,1207,4125	GG,GC,CC		29.2164,22.6488,26.9842	benign	57/256	32609173	3495,9457	2201	4275	6476	SO:0001583	missense	3117				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	ENST00000343139.5:c.169C>G	6.37:g.32609173C>G	ENSP00000339398:p.Gln57Glu		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	SNP	ENST00000343139.5	37	CCDS4752.1	865|865	0.39606227106227104|0.39606227106227104	139|139	0.28252032520325204|0.28252032520325204	158|158	0.43646408839779005|0.43646408839779005	236|236	0.4125874125874126|0.4125874125874126	332|332	0.43799472295514513|0.43799472295514513	.|.	0.003|0.003	-2.453699|-2.453699	0.00175|0.00175	0.226488|0.226488	0.292164|0.292164	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.00695|.	5.83;5.83;5.83;5.83|.	3.83|3.83	-7.66|-7.66	0.01277|0.01277	.|.	1.886270|.	0.03418|.	N|.	0.205898|.	T|T	0.04137|0.04137	0.0115|0.0115	N|N	0.11000|0.11000	0.08|0.08	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.13145|.	0.007;0.0|.	B;B|.	0.19946|.	0.027;0.003|.	T|T	0.17837|0.17837	-1.0356|-1.0356	9|4	0.22109|.	T|.	0.4|.	.|.	8.8794|8.8794	0.35365|0.35365	0.118:0.5489:0.1922:0.1409|0.118:0.5489:0.1922:0.1409	rs10093;rs1129762;rs1130036;rs3188499;rs11545687;rs17354081;rs33909434|rs10093;rs1129762;rs1130036;rs3188499;rs11545687;rs17354081;rs33909434	63;57|.	Q59F33;G4XQK2|.	.;.|.	E|R	57|29	ENSP00000339398:Q57E;ENSP00000378767:Q57E;ENSP00000437302:Q57E;ENSP00000364087:Q57E|.	ENSP00000339398:Q57E|.	Q|S	+|+	1|3	0|2	HLA-DQA1|HLA-DQA1	32717151|32717151	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-5.842000|-5.842000	0.00095|0.00095	-5.868000|-5.868000	0.00008|0.00008	-3.861000|-3.861000	0.00018|0.00018	CAG|AGC		0.522	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		G	32609173	C	G	32609173	3	3	12	1	0	0	0	0	1	0	0	0	7204	711	25	5	175	5	HLA-DQA1	6	32609173	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	760599	32609173	138505894	21	857											
CPNE5	57699	broad.mit.edu;ucsc.edu	37	chr6	36759870	36759870	+	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	ccacatttctttcctgggacAccactgggagaggagaagat	11	9	11	10	0	1	3	0	0	1	3	2	6	2	4	3	3	0	0	3	3	1	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:36759870A>G	ENST00000244751.2	-	8	1092	c.468T>C	c.(466-468)ggT>ggC	p.G156G		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	156	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTCCTGGGACACCACTGGGAG	0.567																																						.											0													121	98	106					6																	36759870		2203	4300	6503	SO:0001819	synonymous_variant	57699			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.468T>C	6.37:g.36759870A>G			Q7Z6C8	Silent	SNP	ENST00000244751.2	37	CCDS4825.1																																																																																				0.567	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		G	36759870	A	G	36759870	2	3	12	1	0	0	0	0	0	0	0	1	3815	146	6	2		2	CPNE5	6	36759870	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	4150697	36759870	134355197	22	858											
CNR1	1268	hgsc.bcm.edu	37	chr6	88853866	88853866	+	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	ctgcagaatgcaaacaccgtCttaatgagcttgttcatctt	11	13	7	10	1	3	2	1	1	2	1	3	2	3	2	1	0	4	4	1	0	3	4			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:88853866C>T	ENST00000537554.1	-	2	4690	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	CNR1_ENST00000369501.2_Silent_p.K376K|CNR1_ENST00000535130.1_Silent_p.K376K|CNR1_ENST00000428600.2_Silent_p.K376K|CNR1_ENST00000468898.1_Silent_p.K343K|CNR1_ENST00000549890.1_Silent_p.K376K|CNR1_ENST00000549716.1_Silent_p.K315K|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.K376K	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	376					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAAACACCGTCTTAATGAGCT	0.517																																						.											0													128	123	125					6																	88853866		2203	4300	6503	SO:0001819	synonymous_variant	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1128G>A	6.37:g.88853866C>T			B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																				0.517	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			T	88853866	C	T	88853866	2	4	12	1	0	0	0	0	0	0	0	1	3631	912	32	4		4	CNR1	6	88853866	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	52093996	88853866	82261201	23	859											
SFRS18	25957	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr6	99852539	99852539	+	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	aatttcttcatctgtgacatCcagcagaatttctgttagaa	12	15	6	8	0	4	3	1	1	3	2	5	3	5	3	1	0	1	2	1	0	4	4			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:99852539C>T	ENST00000369239.5	-	9	1246	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	PNISR_ENST00000438806.1_Missense_Mutation_p.D348N	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	348						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCTGTGACATCCAGCAGAATT	0.343																																						.											0													112	109	110					6																	99852539		2203	4299	6502	SO:0001583	missense	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1042G>A	6.37:g.99852539C>T	ENSP00000358242:p.Asp348Asn		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595129	0.86953	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.48522	0.81;0.81	5.44	4.56	0.56223	.	0.091506	0.85682	D	0.000000	T	0.37046	0.0989	L	0.50333	1.59	0.54753	D	0.999987	P	0.50819	0.939	P	0.45538	0.484	T	0.42103	-0.9471	10	0.87932	D	0	.	16.2025	0.82095	0.0:0.8666:0.1334:0.0	.	348	Q8TF01	PNISR_HUMAN	N	348	ENSP00000358242:D348N;ENSP00000387997:D348N	ENSP00000358242:D348N	D	-	1	0	PNISR	99959260	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	7.346000	0.79347	1.271000	0.44313	-0.189000	0.12847	GAT		0.343	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		T	99852539	C	T	99852539	3	4	12	1	0	0	0	0	1	0	0	0	14174	855	30	3	1391	3	SFRS18	6	99852539	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	10998673	99852539	71262528	24	860											
URGCP	55665	broad.mit.edu	37	chr7	43917145	43917146	+	Frame_Shift_Ins	INS	-	-	C																															agtgggcaaaacgcctctggINScctgccggcagcctccctgc																										TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:43917145_43917146insC	ENST00000453200.1	-	6	2409_2410	c.1916_1917insG	c.(1915-1917)ggcfs	p.G639fs	URGCP_ENST00000443736.1_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.G630fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000223341.7_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000336086.6_Frame_Shift_Ins_p.G596fs|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	639					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						AACGCCTCTGGCCTGCCGGCAG	0.629																																						.											0																																										SO:0001589	frameshift_variant	55665				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.1917dupG	7.37:g.43917147_43917147dupC	ENSP00000396918:p.Gly639fs		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Ins	INS	ENST00000453200.1	37	CCDS47578.1																																																																																				0.629	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43917146	-	C	43917145	7	5	12	1	0	1	1	0	0	0	0	0	17023	1190	42	0	882	0	URGCP	7	43917145	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10		43917145	115221518	25	861											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542297	86542297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcatggaatacaagccTctttgccatagacctgatgt	10	10	9	12	1	1	2	0	1	1	1	1	3	1	3	4	1	3	1	4	1	4	3			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:86542297T>C	ENST00000450689.2	-	14	2140	c.1955A>G	c.(1954-1956)gAg>gGg	p.E652G	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E412G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E485G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.R606G|KIAA1324L_ENST00000490995.1_5'Flank	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	652						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)					AATACAAGCCTCTTTGCCATA	0.473																																						.											0													120	98	105					7																	86542297		2203	4300	6503	SO:0001583	missense	222223			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.1955A>G	7.37:g.86542297T>C	ENSP00000413445:p.Glu652Gly		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.88|16.88	3.244237|3.244237	0.59103|0.59103	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000416314|ENST00000444627	T;T;T|T	0.20738|0.18502	2.31;2.06;2.05|2.21	5.82|5.82	5.82|5.82	0.92795|0.92795	Growth factor, receptor (1);|.	0.091963|.	0.85682|.	D|.	0.000000|.	T|T	0.30541|0.30541	0.0768|0.0768	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52316|.	0.936;0.952;0.952|.	P;P;P|.	0.49528|.	0.614;0.6;0.461|.	T|T	0.00770|0.00770	-1.1573|-1.1573	10|6	0.31617|.	T|.	0.26|.	.|.	15.3651|15.3651	0.74516|0.74516	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	652;412;485|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	G|G	652;412;485|606	ENSP00000413445:E652G;ENSP00000297222:E412G;ENSP00000402390:E485G|ENSP00000397377:R606G	ENSP00000297222:E412G|.	E|R	-|-	2|1	0|2	KIAA1324L|KIAA1324L	86380233|86380233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.499000|7.499000	0.81566|0.81566	2.222000|2.222000	0.72286|0.72286	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.473	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		C	86542297	T	C	86542297	3	2	12	1	0	0	0	0	1	0	0	0	8224	1551	54	2	1170	2	KIAA1324L	7	86542297	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	42625152	86542297	72596366	26	862											
ZC3HAV1	56829	ucsc.edu	37	chr7	138794049	138794049	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcacaggattttggtgAtgaagcagcacacctccggg	9	7	15	10	2	0	2	0	2	0	0	1	3	1	3	2	4	2	3	2	4	1	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:138794049A>G	ENST00000242351.5	-	1	345	c.29T>C	c.(28-30)aTc>aCc	p.I10T	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I10T|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I10T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	10	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GATTTTGGTGATGAAGCAGCA	0.662																																						.											0													12	16	15					7																	138794049		2138	4262	6400	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.29T>C	7.37:g.138794049A>G	ENSP00000242351:p.Ile10Thr		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594052	0.86953	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.42900	0.96;0.96;0.96	4.63	4.63	0.57726	.	0.268964	0.26836	N	0.022257	T	0.57755	0.2075	M	0.71581	2.175	0.38353	D	0.944395	D;D	0.69078	0.992;0.997	P;P	0.61397	0.866;0.888	T	0.65800	-0.6080	10	0.87932	D	0	.	10.5908	0.45308	1.0:0.0:0.0:0.0	.	10;10	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	T	10	ENSP00000242351:I10T;ENSP00000418385:I10T;ENSP00000419855:I10T	ENSP00000242351:I10T	I	-	2	0	ZC3HAV1	138444589	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.970000	0.63742	2.073000	0.62155	0.402000	0.26972	ATC		0.662	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		G	138794049	A	G	138794049	3	3	12	1	0	0	0	0	1	0	0	0	17572	333	12	4	2735	4	ZC3HAV1	7	138794049	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	52251752	138794049	20344614	27	863											
ASPN	54829	hgsc.bcm.edu	37	chr9	95237030	95237030	+	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	aaaagagagttgtcctcatcAtcatcatcatcatcatcatc	14	12	4	11	0	8	1	8	0	0	1	10	2	9	1	1	0	0	1	1	0	2	1	rs143279922		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr9:95237030A>C	ENST00000375544.3	-	2	393	c.150T>G	c.(148-150)gaT>gaG	p.D50E	ASPN_ENST00000450139.2_Missense_Mutation_p.D22E|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.D50E|ASPN_ENST00000395538.3_Missense_Mutation_p.D50E	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	50	Poly-Asp.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TGTCCtcatcatcatcatcat	0.398																																						.											0													112	102	105					9																	95237030		2203	4300	6503	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.150T>G	9.37:g.95237030A>C	ENSP00000364694:p.Asp50Glu		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37		.	.	.	.	.	.	.	.	.	.	A	2.759	-0.258312	0.05791	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	T;T;T	0.52983	0.64;0.69;0.69	3.41	-5.95	0.02241	.	1.551710	0.03954	N	0.288946	T	0.32645	0.0836	L	0.40543	1.245	0.09310	N	1	B;B	0.32245	0.361;0.001	B;B	0.27380	0.079;0.001	T	0.11941	-1.0567	10	0.22109	T	0.4	.	7.6964	0.28598	0.4608:0.1193:0.4198:0.0	.	50;50	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	E	50;50;50;22	ENSP00000364694:D50E;ENSP00000364693:D50E;ENSP00000378909:D50E	ENSP00000364693:D50E	D	-	3	2	ASPN	94276851	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.911000	0.01583	-2.152000	0.00794	-2.339000	0.00246	GAT		0.398	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		C	95237030	A	C	95237030	3	2	12	1	0	0	0	0	1	0	0	0	1057	214	8	5	1020	5	ASPN	9	95237030	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10		95237030	45976401	28	864											
KIAA1462	57608	ucsc.edu	37	chr10	30317404	30317404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtttggaactttttgAgcttggtttgagtttcgcag	6	17	11	7	1	0	2	0	2	0	0	2	3	1	3	1	2	2	5	1	2	1	6			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:30317404A>G	ENST00000375377.1	-	3	1774	c.1673T>C	c.(1672-1674)cTc>cCc	p.L558P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	558					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GAACTTTTTGAGCTTGGTTTG	0.468																																						.											0													100	102	101					10																	30317404		1887	4129	6016	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1673T>C	10.37:g.30317404A>G	ENSP00000364526:p.Leu558Pro		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158533	0.57368	.	.	ENSG00000165757	ENST00000375377	T	0.21734	1.99	5.62	4.48	0.54585	.	0.289920	0.33180	N	0.005195	T	0.29524	0.0736	M	0.69823	2.125	0.80722	D	1	P	0.46952	0.887	P	0.45406	0.479	T	0.06463	-1.0825	10	0.87932	D	0	-30.5916	11.3824	0.49766	0.9289:0.0:0.071:0.0	.	558	Q9P266	K1462_HUMAN	P	558	ENSP00000364526:L558P	ENSP00000364526:L558P	L	-	2	0	KIAA1462	30357410	1.000000	0.71417	0.761000	0.31378	0.596000	0.36781	4.584000	0.60971	0.962000	0.38057	0.459000	0.35465	CTC		0.468	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		G	30317404	A	G	30317404	3	3	12	1	0	0	0	0	1	0	0	0	8234	304	11	2	2414	2	KIAA1462	10	30317404	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10		30317404	105217343	29	865											
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-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	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																																						.											5	Substitution - Missense(5)	endometrium(4)|kidney(1)											223	221	222					10																	43659419		2203	4300	6503	SO:0001583	missense	55454			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		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	12	1	0	0	0	0	1	0	0	0	3939	1281	45	5	1100	5	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	13342015	43659419	91875328	30	866											
UNC5B	219699	ucsc.edu	37	chr10	73044593	73044593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgcgggcaccaccaagAgtcgccgagcctacgtccgc	7	4	12	18	6	0	1	0	0	0	1	3	2	2	1	6	1	2	2	6	1	2	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:73044593A>G	ENST00000335350.6	+	3	837	c.421A>G	c.(421-423)Agt>Ggt	p.S141G	UNC5B_ENST00000373192.4_Missense_Mutation_p.S141G	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	141	Ig-like.				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						CACCACCAAGAGTCGCCGAGC	0.652																																						.											0													79	75	77					10																	73044593		2203	4300	6503	SO:0001583	missense	219699			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.421A>G	10.37:g.73044593A>G	ENSP00000334329:p.Ser141Gly		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.938744	0.92526	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.24723	1.84;1.84	5.03	5.03	0.67393	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.59963	-0.7355	10	0.54805	T	0.06	-11.1453	14.7589	0.69590	1.0:0.0:0.0:0.0	.	141;141	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	G	141	ENSP00000334329:S141G;ENSP00000362288:S141G	ENSP00000334329:S141G	S	+	1	0	UNC5B	72714599	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	1.880000	0.54463	0.454000	0.30748	AGT		0.652	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		G	73044593	A	G	73044593	3	3	12	1	0	0	0	0	1	0	0	0	16989	304	11	2	431	2	UNC5B	10	73044593	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	29385174	73044593	62490154	31	867											
GPAM	57678	broad.mit.edu	37	chr10	113933564	113933564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgggcagaaccatcaggGtttaattcagcagccacttc	10	10	10	11	0	2	1	2	0	0	1	3	1	2	1	2	2	4	4	2	2	2	4			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:113933564G>T	ENST00000348367.4	-	7	650	c.453C>A	c.(451-453)aaC>aaA	p.N151K	GPAM_ENST00000423155.1_Missense_Mutation_p.N151K|GPAM_ENST00000369425.1_Missense_Mutation_p.N151K			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	151					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)		AACCATCAGGGTTTAATTCAG	0.393																																					Ovarian(161;1017 2606 18293 52943)	.											0													87	79	81					10																	113933564		2203	4300	6503	SO:0001583	missense	57678			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.453C>A	10.37:g.113933564G>T	ENSP00000265276:p.Asn151Lys		Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524672	0.27299	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.67523	-0.27;-0.27;-0.27	6.02	-1.13	0.09775	.	0.206543	0.50627	D	0.000102	T	0.41534	0.1163	L	0.29908	0.895	0.19300	N	0.999979	B;B	0.26672	0.156;0.067	B;B	0.22386	0.039;0.027	T	0.36529	-0.9744	10	0.06099	T	0.92	-25.0851	6.8287	0.23897	0.6387:0.0:0.2374:0.1239	.	151;151	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	K	151	ENSP00000265276:N151K;ENSP00000409242:N151K;ENSP00000358433:N151K	ENSP00000265276:N151K	N	-	3	2	GPAM	113923554	0.727000	0.28069	0.892000	0.35008	0.576000	0.36127	0.020000	0.13466	-0.375000	0.07955	-0.145000	0.13849	AAC		0.393	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		T	113933564	G	T	113933564	3	4	12	1	0	0	0	0	1	0	0	0	6588	1252	44	5	2097	5	GPAM	10	113933564	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	40888971	113933564	21601183	32	868											
ATE1	11101	broad.mit.edu;bcgsc.ca	37	chr10	123596309	123596309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgagaagttttctcatgaAgctgcctagtaaaagcaatt	13	13	9	6	0	1	2	1	2	1	1	2	3	1	2	1	0	3	5	1	0	6	6			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:123596309A>G	ENST00000224652.6	-	10	1266	c.1181T>C	c.(1180-1182)cTt>cCt	p.L394P	ATE1_ENST00000543447.1_Missense_Mutation_p.L279P|ATE1_ENST00000535655.1_Missense_Mutation_p.L95P|ATE1_ENST00000369043.3_Missense_Mutation_p.L394P|ATE1_ENST00000369040.3_Missense_Mutation_p.L298P|ATE1_ENST00000540606.1_Missense_Mutation_p.L387P	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	394					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTCTCATGAAGCTGCCTAGT	0.328																																						.											0													48	53	52					10																	123596309		2196	4293	6489	SO:0001583	missense	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1181T>C	10.37:g.123596309A>G	ENSP00000224652:p.Leu394Pro		O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504714	0.85176	.	.	ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447	.	.	.	5.66	5.66	0.87406	Acyl-CoA N-acyltransferase (1);Arginine-tRNA-protein transferase, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.87585	0.6214	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.998	D	0.91320	0.5081	9	0.66056	D	0.02	-7.6788	15.898	0.79350	1.0:0.0:0.0:0.0	.	387;298;394;394	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	P	394;95;394;298;387;279	.	ENSP00000224652:L394P	L	-	2	0	ATE1	123586299	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.270000	0.95690	2.161000	0.67846	0.533000	0.62120	CTT		0.328	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		G	123596309	A	G	123596309	3	3	12	1	0	0	0	0	1	0	0	0	1078	72	3	2	387	2	ATE1	10	123596309	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	9662745	123596309	11938438	33	869											
MUC6	4588	bcgsc.ca	37	chr11	1016628	1016628	+	Missense_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	tcattggtggggctgtgtggGtggaccctgtggccttgagc	3	12	18	8	0	1	1	1	1	0	0	1	2	1	2	2	6	1	1	2	6	0	2	rs202039948		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1016628G>A	ENST00000421673.2	-	31	6223	c.6173C>T	c.(6172-6174)aCc>aTc	p.T2058I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2058	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)		GGCTGTGTGGGTGGACCCTGT	0.567																																						.											0													381	380	380					11																	1016628		2193	4287	6480	SO:0001583	missense	4588			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.6173C>T	11.37:g.1016628G>A	ENSP00000406861:p.Thr2058Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507954	0.44558	.	.	ENSG00000184956	ENST00000421673	T	0.19250	2.16	2.46	2.46	0.29980	.	.	.	.	.	T	0.20941	0.0504	L	0.50333	1.59	0.09310	N	1	D	0.56968	0.978	B	0.42738	0.396	T	0.10706	-1.0618	9	0.45353	T	0.12	.	11.0274	0.47753	0.0:0.0:1.0:0.0	.	2058	Q6W4X9	MUC6_HUMAN	I	2058	ENSP00000406861:T2058I	ENSP00000406861:T2058I	T	-	2	0	MUC6	1006628	0.007000	0.16637	0.002000	0.10522	0.226000	0.24999	1.358000	0.34102	1.716000	0.51395	0.313000	0.20887	ACC		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016628	G	A	1016628	3	1	12	1	0	0	0	0	1	0	0	0	9980	1261	44	3	1158	3	MUC6	11	1016628	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10		1016628	133989888	34	870			1	8		5	5	1352	G		4.033653e-12
MUC6	4588	bcgsc.ca	37	chr11	1016662	1016662	+	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	cttgagcgttgttggtggagGaacggtgcctgttggcgttg	4	13	18	6	3	0	1	0	1	0	0	0	3	0	3	1	5	3	4	1	5	1	5	rs201489806		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1016662G>A	ENST00000421673.2	-	31	6189	c.6139C>T	c.(6139-6141)Cct>Tct	p.P2047S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2047	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)		GTTGGTGGAGGAACGGTGCCT	0.572																																						.											0													524	490	502					11																	1016662		2200	4295	6495	SO:0001583	missense	4588			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.6139C>T	11.37:g.1016662G>A	ENSP00000406861:p.Pro2047Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442648	0.12164	.	.	ENSG00000184956	ENST00000421673	T	0.18810	2.19	3.12	-2.06	0.07298	.	.	.	.	.	T	0.10809	0.0264	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	9	0.11485	T	0.65	.	2.5371	0.04716	0.2087:0.142:0.5053:0.144	.	2047	Q6W4X9	MUC6_HUMAN	S	2047	ENSP00000406861:P2047S	ENSP00000406861:P2047S	P	-	1	0	MUC6	1006662	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.038000	0.13862	-1.027000	0.03325	-1.786000	0.00637	CCT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016662	G	A	1016662	3	1	12	1	0	0	0	0	1	0	0	0	9980	1174	41	3	1192	3	MUC6	11	1016662	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	34	1016662	133989854	35	871			1	8		5	5	1352	G		4.033653e-12
MUC6	4588	mdanderson.org	37	chr11	1017022	1017022	+	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	agttggggtgacttcaggatGgtgtgttgaggaagtgtggt	7	13	19	2	0	1	2	1	2	0	0	1	4	1	4	0	6	0	2	0	6	1	3			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1017022G>A	ENST00000421673.2	-	31	5829	c.5779C>T	c.(5779-5781)Cat>Tat	p.H1927Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1927	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)		ACTTCAGGATGGTGTGTTGAG	0.557																																						.											0													680	683	682					11																	1017022		2201	4285	6486	SO:0001583	missense	4588			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.5779C>T	11.37:g.1017022G>A	ENSP00000406861:p.His1927Tyr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.512	-0.865870	0.02590	.	.	ENSG00000184956	ENST00000421673	T	0.25579	1.79	3.05	-0.616	0.11583	.	.	.	.	.	T	0.14013	0.0339	L	0.29908	0.895	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.28459	-1.0043	9	0.30078	T	0.28	.	2.386	0.04365	0.1202:0.3607:0.3491:0.17	.	1927	Q6W4X9	MUC6_HUMAN	Y	1927	ENSP00000406861:H1927Y	ENSP00000406861:H1927Y	H	-	1	0	MUC6	1007022	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.407000	0.21049	-0.244000	0.09639	0.313000	0.20887	CAT		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017022	G	A	1017022	3	1	12	1	0	0	0	0	1	0	0	0	9980	1348	47	4	1552	4	MUC6	11	1017022	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	360	1017022	133989494	36	872			1	8		5	5	1352	G		4.033653e-12
MUC6	4588	mdanderson.org	37	chr11	1017543	1017543	+	Missense_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	caggatggtgtgtggaggaaGtgtgtgaatgtagggatgta	10	11	19	1	0	0	1	0	1	0	0	0	5	0	5	0	5	0	2	0	5	4	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1017543G>A	ENST00000421673.2	-	31	5308	c.5258C>T	c.(5257-5259)aCt>aTt	p.T1753I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1753	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)		TGTGGAGGAAGTGTGTGAATG	0.552																																						.											0													834	785	802					11																	1017543		2201	4293	6494	SO:0001583	missense	4588			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.5258C>T	11.37:g.1017543G>A	ENSP00000406861:p.Thr1753Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	9.616	1.132522	0.21041	.	.	ENSG00000184956	ENST00000421673	T	0.21361	2.01	3.07	2.14	0.27477	.	.	.	.	.	T	0.24314	0.0589	N	0.24115	0.695	0.09310	N	1	D	0.59357	0.985	D	0.63488	0.915	T	0.07986	-1.0744	9	0.51188	T	0.08	.	4.2562	0.10719	0.133:0.0:0.6424:0.2245	.	1753	Q6W4X9	MUC6_HUMAN	I	1753	ENSP00000406861:T1753I	ENSP00000406861:T1753I	T	-	2	0	MUC6	1007543	0.040000	0.19996	0.001000	0.08648	0.079000	0.17450	2.410000	0.44592	0.585000	0.29608	0.313000	0.20887	ACT		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017543	G	A	1017543	3	1	12	1	0	0	0	0	1	0	0	0	9980	1029	36	4	2073	4	MUC6	11	1017543	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	521	1017543	133988973	37	873			1	8		5	5	1352	G		4.033653e-12
MUC6	4588	mdanderson.org	37	chr11	1017979	1017979	+	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	agtgggaagtgtggtctgagGgtgtgatggggttggatagg	7	11	22	1	0	1	2	0	2	1	0	1	4	1	4	0	7	0	1	0	7	2	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:1017979G>A	ENST00000421673.2	-	31	4872	c.4822C>T	c.(4822-4824)Cct>Tct	p.P1608S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1608	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)		GTGGTCTGAGGGTGTGATGGG	0.552																																						.											0													468	437	448					11																	1017979		2186	4278	6464	SO:0001583	missense	4588			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.4822C>T	11.37:g.1017979G>A	ENSP00000406861:p.Pro1608Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	5.477	0.273094	0.10349	.	.	ENSG00000184956	ENST00000421673	T	0.24538	1.85	2.39	0.275	0.15659	.	.	.	.	.	T	0.22936	0.0554	M	0.62723	1.935	0.09310	N	1	B	0.33135	0.399	B	0.33042	0.157	T	0.18777	-1.0326	9	0.45353	T	0.12	.	4.8879	0.13712	0.1334:0.0:0.6602:0.2064	.	1608	Q6W4X9	MUC6_HUMAN	S	1608	ENSP00000406861:P1608S	ENSP00000406861:P1608S	P	-	1	0	MUC6	1007979	0.004000	0.15560	0.001000	0.08648	0.024000	0.10985	-0.105000	0.10907	-0.082000	0.12640	-0.707000	0.03653	CCT		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017979	G	A	1017979	3	1	12	1	0	0	0	0	1	0	0	0	9980	1232	43	3	2509	3	MUC6	11	1017979	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	436	1017979	133988537	38	874			1	8		5	5	1352	G		4.033653e-12
TH	7054	broad.mit.edu	37	chr11	2186902	2186902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagagactctcaccaggAgctccccgtaggaggacagc	12	4	13	12	1	1	1	1	0	1	1	3	6	2	5	3	4	2	2	3	4	2	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:2186902A>G	ENST00000381178.1	-	12	1307	c.1289T>C	c.(1288-1290)cTc>cCc	p.L430P	TH_ENST00000352909.3_Missense_Mutation_p.L399P|TH_ENST00000381175.1_Missense_Mutation_p.L426P|TH_ENST00000333684.5_Missense_Mutation_p.L309P	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	430					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)	TCTCACCAGGAGCTCCCCGTA	0.662																																						.											0													51	50	51					11																	2186902		2200	4297	6497	SO:0001583	missense	7054			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.1289T>C	11.37:g.2186902A>G	ENSP00000370571:p.Leu430Pro		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705500	0.48412	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99807	-6.85;-6.85;-6.85;-6.85	4.03	2.78	0.32641	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.64402	D	0.000001	D	0.99764	0.9904	M	0.93763	3.455	0.58432	D	0.999995	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;0.999;0.999;1.0;0.999	D	0.97556	1.0095	10	0.87932	D	0	5.1889	9.5303	0.39189	0.823:0.177:0.0:0.0	.	403;309;305;399;430;426	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	P	430;426;399;309	ENSP00000370571:L430P;ENSP00000370567:L426P;ENSP00000325951:L399P;ENSP00000328814:L309P	ENSP00000328814:L309P	L	-	2	0	TH	2143478	1.000000	0.71417	0.998000	0.56505	0.080000	0.17528	7.030000	0.76484	1.603000	0.50134	0.402000	0.26972	CTC		0.662	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		G	2186902	A	G	2186902	3	3	12	1	0	0	0	0	1	0	0	0	15835	304	11	2	309	2	TH	11	2186902	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	1168923	2186902	132819614	39	875											
TMEM132A	54972	ucsc.edu	37	chr11	60701218	60701218	+	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	tacctggccctgctgaagggTgagtggaggcctgaggaagc	8	7	17	9	0	0	3	0	3	0	0	0	5	0	5	3	5	3	1	3	5	3	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:60701218T>C	ENST00000453848.2	+	8	1717		c.e8+2		TMEM132A_ENST00000005286.4_Splice_Site			Q24JP5	T132A_HUMAN	transmembrane protein 132A							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						TGCTGAAGGGTGAGTGGAGGC	0.672																																						.											0													9	8	8					11																	60701218		2174	4249	6423	SO:0001630	splice_region_variant	54972			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.1559+2T>C	11.37:g.60701218T>C			Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Splice_Site	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.603215	0.46423	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000536409	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5458	0.56199	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132A	60457794	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	1.573000	0.36472	1.909000	0.55274	0.528000	0.53228	.		0.672	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	Intron	C	60701218	T	C	60701218	5	2	12	1	0	0	0	0	0	0	1	0	16042	1710	59	2	1594	2	TMEM132A	11	60701218	Splice_Site	SNP	T	TCGA-KL-8334-01A-11D-2310-10	58514316	60701218	74305298	40	876											
RSF1	51773	broad.mit.edu	37	chr11	77409663	77409663	+	Missense_Mutation	SNP	T	T	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	ttcactgccagacccttcacTttcatcattgctggaatatt	9	15	5	12	0	4	1	4	0	0	1	4	2	4	2	2	1	2	1	2	1	2	6			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:77409663T>C	ENST00000308488.6	-	7	2886	c.2584A>G	c.(2584-2586)Agt>Ggt	p.S862G	RSF1_ENST00000480887.1_Missense_Mutation_p.S610G|RSF1_ENST00000360355.2_Missense_Mutation_p.S831G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	862					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)			GACCCTTCACTTTCATCATTG	0.418																																						.											0													159	151	154					11																	77409663		2200	4292	6492	SO:0001583	missense	51773			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.2584A>G	11.37:g.77409663T>C	ENSP00000311513:p.Ser862Gly		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.590084	0.66105	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324	D;D;D;D	0.86497	-2.08;-2.09;-2.07;-2.13	4.68	4.68	0.58851	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000013	T	0.79375	0.4435	L	0.29908	0.895	0.37258	D	0.906843	P	0.44734	0.842	B	0.36959	0.237	D	0.83999	0.0342	10	0.49607	T	0.09	-11.6966	14.2598	0.66078	0.0:0.0:0.0:1.0	.	862	Q96T23	RSF1_HUMAN	G	862;610;831;663	ENSP00000311513:S862G;ENSP00000434509:S610G;ENSP00000353511:S831G;ENSP00000432022:S663G	ENSP00000311513:S862G	S	-	1	0	RSF1	77087311	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.058000	0.64300	2.086000	0.62901	0.482000	0.46254	AGT		0.418	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		C	77409663	T	C	77409663	3	2	12	1	0	0	0	0	1	0	0	0	13699	1609	56	2	1781	2	RSF1	11	77409663	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	16708445	77409663	57596853	41	877											
PPP2R1B	5519	broad.mit.edu	37	chr11	111637006	111637007	+	Frame_Shift_Ins	INS	-	-	C																															gcggagctcgtcgattaaaaINSccgcgatcgggtatagcgaa																										TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:111637006_111637007insC	ENST00000527614.1	-	1	144_145	c.79_80insG	c.(79-81)gttfs	p.V27fs	RP11-108O10.2_ENST00000529841.1_lincRNA|PPP2R1B_ENST00000311129.5_Frame_Shift_Ins_p.V27fs|PPP2R1B_ENST00000341980.6_Frame_Shift_Ins_p.V27fs|PPP2R1B_ENST00000426998.2_Frame_Shift_Ins_p.V27fs|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000393055.2_Frame_Shift_Ins_p.V27fs	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	27					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTCGATTAAAACCGCGATCGGG	0.629																																						.											0																																										SO:0001589	frameshift_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.80dupG	11.37:g.111637008_111637008dupC	ENSP00000437193:p.Val27fs		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Frame_Shift_Ins	INS	ENST00000527614.1	37	CCDS8349.1																																																																																				0.629	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		C	111637007	-	C	111637006	7	5	12	1	0	1	1	0	0	0	0	0	12383	43	2	0	2008	0	PPP2R1B	11	111637006	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10	34227343	111637006	23369510	42	878											
A2M	2	broad.mit.edu	37	chr12	9242558	9242558	+	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	tgttcaggaactgaaggcacCtcagtcccacacagctcttg	10	9	9	13	0	3	1	2	1	1	0	4	2	4	2	2	2	2	3	2	2	2	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:9242558C>T	ENST00000318602.7	-	21	2965	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	886					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)	CTGAAGGCACCTCAGTCCCAC	0.413													C|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001					.											0													94	94	94					12																	9242558		1914	4121	6035	SO:0001819	synonymous_variant	2			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.2658G>A	12.37:g.9242558C>T			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.527696	0.00959	.	.	ENSG00000175899	ENST00000543436	.	.	.	5.68	-0.311	0.12761	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.41759	D	0.989704	.	.	.	.	.	.	T	0.38650	-0.9651	4	.	.	.	.	6.7089	0.23266	0.0:0.4781:0.1145:0.4074	.	.	.	.	K	134	.	.	R	-	2	0	A2M	9133825	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.202000	0.09451	-0.356000	0.08187	-0.140000	0.14226	AGG		0.413	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9242558	C	T	9242558	2	4	12	1	0	0	0	0	0	0	0	1	4	680	24	4		4	A2M	12	9242558	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10		9242558	124609337	43	879											
TAS2R30	259293	mdanderson.org	37	chr12	11286276	11286276	+	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	cagaaaagatatcagggtcaGagtgaggggtacaaagtttg	15	8	14	4	0	2	4	2	1	0	3	2	4	2	4	0	3	1	2	0	3	5	3			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:11286276G>C	ENST00000539585.1	-	1	967	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	190					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						ATCAGGGTCAGAGTGAGGGGT	0.418																																						.											0													189	200	196					12																	11286276		2203	4300	6503	SO:0001583	missense	259293			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.568C>G	12.37:g.11286276G>C	ENSP00000444736:p.Leu190Val		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	1.203	-0.632049	0.03584	.	.	ENSG00000256188	ENST00000539585	T	0.00700	5.82	2.6	-4.69	0.03299	.	.	.	.	.	T	0.00724	0.0024	L	0.39245	1.2	0.09310	N	1	B	0.09022	0.002	B	0.20384	0.029	T	0.41893	-0.9483	9	0.27082	T	0.32	.	5.8078	0.18450	0.1714:0.0:0.5788:0.2498	.	190	P59541	T2R30_HUMAN	V	190	ENSP00000444736:L190V	ENSP00000444736:L190V	L	-	1	2	TAS2R30	11177543	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.309000	0.08145	-0.577000	0.05967	-0.698000	0.03680	CTG		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		C	11286276	G	C	11286276	3	2	12	1	0	0	0	0	1	0	0	0	15570	933	33	5	395	5	TAS2R30	12	11286276	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	2043718	11286276	122565619	44	880											
SLCO1C1	53919	mdanderson.org	37	chr12	20905250	20905250	+	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	cttcttctagacatatatatCtgggactaactgtgatactg	11	15	7	8	0	3	2	0	1	3	1	3	3	3	3	0	1	2	0	0	1	6	8	rs6487138	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:20905250C>T	ENST00000266509.2	+	15	2295	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S677F|SLCO1C1_ENST00000540354.1_Silent_p.L594L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S559F|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S677F	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	643					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)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ACATATATATCTGGGACTAAC	0.299													C|||	2351	0.469449	0.2012	0.5677	5008	,	,		17354	0.5923		0.495	False		,,,				2504	0.6094					.											0								C	PHE/SER,,PHE/SER,	1092,3312	370.3+/-319.5	138,816,1248	41	41	41		1676,1780,2030,1927	5.4	1	12	dbSNP_116	41	4649,3947	591.6+/-392.9	1248,2153,897	yes	missense,coding-synonymous,missense,coding-synonymous	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	155,,155,	1386,2969,2145	TT,TC,CC		45.9167,24.7956,44.1615	,,,	559/613,594/664,677/731,643/713	20905250	5741,7259	2202	4298	6500	SO:0001819	synonymous_variant	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1927C>T	12.37:g.20905250C>T			B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	1046	0.47893772893772896	110	0.22357723577235772	192	0.5303867403314917	358	0.6258741258741258	386	0.5092348284960422	C	16.43	3.120305	0.56613	0.247956	0.540833	ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102	T;T;T	0.39997	1.05;1.05;1.11	5.37	5.37	0.77165	.	2.483440	0.01020	N	0.003979	T	0.00012	0.0000	.	.	.	0.31879	P	0.618765	P;P	0.51537	0.946;0.91	P;P	0.55999	0.789;0.498	T	0.46275	-0.9203	8	0.59425	D	0.04	.	16.1483	0.81586	0.0:1.0:0.0:0.0	rs6487138	559;677	F5GZD6;Q5JPA4	.;.	F	677;677;559	ENSP00000444149:S677F;ENSP00000370964:S677F;ENSP00000444527:S559F	ENSP00000370964:S677F	S	+	2	0	SLCO1C1	20796517	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.654000	0.46699	2.797000	0.96272	0.655000	0.94253	TCT		0.299	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		T	20905250	C	T	20905250	2	4	12	1	0	0	0	0	0	0	0	1	14725	913	32	4		4	SLCO1C1	12	20905250	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	9618974	20905250	112946645	45	881											
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	100377920	100377920	+	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	ggcaggggtccggatccaccGcccaggatccctcctttcct	5	8	11	17	2	0	0	0	0	0	0	5	2	5	2	7	5	0	1	7	5	0	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:100377920G>A	ENST00000547776.2	-	1	95	c.96C>T	c.(94-96)ggC>ggT	p.G32G	ANKS1B_ENST00000329257.7_Silent_p.G32G|ANKS1B_ENST00000547010.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	32						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)		CGGATCCACCGCCCAGGATCC	0.572																																						.											0													71	80	77					12																	100377920		1968	4131	6099	SO:0001819	synonymous_variant	56899			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.96C>T	12.37:g.100377920G>A			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	CCDS55872.1																																																																																				0.572	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		A	100377920	G	A	100377920	2	1	12	1	0	0	0	0	0	0	0	1	689	1074	38	1		1	ANKS1B	12	100377920	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10	79472670	100377920	33473975	46	882											
FNDC3A	22862	broad.mit.edu	37	chr13	49719943	49719943	+	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	atccaggcaaggacagtagtActtacctggtcaccaccttc	11	9	8	13	0	1	0	1	0	0	0	3	1	2	1	4	3	2	3	4	3	4	4			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr13:49719943A>G	ENST00000492622.2	+	8	1154	c.849A>G	c.(847-849)gtA>gtG	p.V283V	FNDC3A_ENST00000541916.1_Silent_p.V283V|FNDC3A_ENST00000398316.3_Silent_p.V227V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	283	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGACAGTAGTACTTACCTGGT	0.383																																						.											0													116	108	111					13																	49719943		2203	4300	6503	SO:0001819	synonymous_variant	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.849A>G	13.37:g.49719943A>G			B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	CCDS41886.1																																																																																				0.383	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		G	49719943	A	G	49719943	2	3	12	1	0	0	0	0	0	0	0	1	5969	378	14	2		2	FNDC3A	13	49719943	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10		49719943	65449935	47	883											
MYH6	4624	broad.mit.edu	37	chr14	23871766	23871766	+	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	ggctcccgtcagcttgtagaCgccagctttctcctctgaag	6	11	10	14	2	3	2	1	1	2	1	5	2	4	2	3	1	2	4	3	1	2	3	rs200260629	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr14:23871766C>A	ENST00000356287.3	-	11	1077	c.1048G>T	c.(1048-1050)Gtc>Ttc	p.V350F	MYH6_ENST00000405093.3_Missense_Mutation_p.V350F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	350	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			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)		AGCTTGTAGACGCCAGCTTTC	0.612																																						.											0													113	106	108					14																	23871766		2203	4300	6503	SO:0001583	missense	4624			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.1048G>T	14.37:g.23871766C>A	ENSP00000348634:p.Val350Phe		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	15.63	2.891589	0.52014	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.89552	-2.53;-2.53	3.82	1.83	0.25207	Myosin head, motor domain (2);	.	.	.	.	D	0.92264	0.7546	M	0.90252	3.1	0.33668	D	0.610552	P;P	0.35124	0.485;0.485	P;P	0.46510	0.519;0.519	D	0.92436	0.5958	9	0.87932	D	0	.	7.8698	0.29558	0.0:0.6811:0.0:0.3189	.	350;350	D9YZU2;P13533	.;MYH6_HUMAN	F	350	ENSP00000386041:V350F;ENSP00000348634:V350F	ENSP00000348634:V350F	V	-	1	0	MYH6	22941606	0.001000	0.12720	0.161000	0.22692	0.966000	0.64601	-0.073000	0.11468	0.182000	0.20032	0.305000	0.20034	GTC		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			A	23871766	C	A	23871766	3	1	12	1	0	0	0	0	1	0	0	0	10038	536	19	5	4883	5	MYH6	14	23871766	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10		23871766	83477774	48	884											
C14orf1	11161	broad.mit.edu	37	chr14	76118234	76118234	+	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	gagtgtgatgtgatagagccTataaggaagcagacagaaat	16	8	13	4	0	0	5	0	2	0	3	0	7	0	6	1	1	2	1	1	1	5	3			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr14:76118234T>C	ENST00000256319.6	-	4	670		c.e4-2		FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron	NM_007176.3	NP_009107.1	Q9UKR5	ERG28_HUMAN	chromosome 14 open reading frame 1						sterol biosynthetic process (GO:0016126)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGATAGAGCCTATAAGGAAGC	0.458																																						.											0													98	98	98					14																	76118234		2203	4300	6503	SO:0001630	splice_region_variant	11161			AF134159	CCDS9845.1	14q24.3	2012-08-16			ENSG00000133935	ENSG00000133935			1187	protein-coding gene	gene with protein product		604576				10449901, 12958361, 11160377	Standard	NM_007176		Approved	NET51, ERG28	uc001xrt.3	Q9UKR5	OTTHUMG00000171488	ENST00000256319.6:c.225-2A>G	14.37:g.76118234T>C			Q9P093|Q9UPI2	Splice_Site	SNP	ENST00000256319.6	37	CCDS9845.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022922	0.54683	.	.	ENSG00000133935	ENST00000256319	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.638	0.76970	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf1	75187987	1.000000	0.71417	0.932000	0.37286	0.477000	0.33069	7.624000	0.83124	2.172000	0.68678	0.533000	0.62120	.		0.458	C14orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413683.1	NM_007176	Intron	C	76118234	T	C	76118234	5	2	12	1	0	0	0	0	0	0	1	0	1733	1536	53	2	207	2	C14orf1	14	76118234	Splice_Site	SNP	T	TCGA-KL-8334-01A-11D-2310-10	52246468	76118234	31231306	49	885											
LCMT2	9836	ucsc.edu	37	chr15	43622621	43622621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccagggaacgcttgcTgagggcgctgctgtcgttgg	4	8	18	11	5	0	1	0	1	0	0	1	2	0	2	1	4	3	5	1	4	1	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr15:43622621T>C	ENST00000305641.5	-	1	182	c.67A>G	c.(67-69)Agc>Ggc	p.S23G	LCMT2_ENST00000567039.1_Missense_Mutation_p.S23G|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	23					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		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;8.1e-07)	L-Leucine(DB00149)	GAACGCTTGCTGAGGGCGCTG	0.692																																						.											0													18	21	20					15																	43622621		2116	4131	6247	SO:0001583	missense	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.67A>G	15.37:g.43622621T>C	ENSP00000307214:p.Ser23Gly		Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696451	0.88830	.	.	ENSG00000168806	ENST00000305641	T	0.25414	1.8	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62699	-0.6799	10	0.59425	D	0.04	.	12.0108	0.53286	0.0:0.0:0.0:1.0	.	23	O60294	LCMT2_HUMAN	G	23	ENSP00000307214:S23G	ENSP00000307214:S23G	S	-	1	0	LCMT2	41409913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.541000	0.67212	2.333000	0.79357	0.533000	0.62120	AGC		0.692	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		C	43622621	T	C	43622621	3	2	12	1	0	0	0	0	1	0	0	0	8679	1580	55	2	1997	2	LCMT2	15	43622621	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10		43622621	58908771	50	886											
ADAMTS7	11173	broad.mit.edu;hgsc.bcm.edu	37	chr15	79060504	79060504	+	Frame_Shift_Del	DEL	C	C	-																															cagggctgctcgctgcacttCctctgttggtcatcaggccg																										TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr15:79060504delC	ENST00000388820.4	-	17	2826	c.2616delG	c.(2614-2616)aggfs	p.R872fs	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	872	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCTGCACTTCCTCTGTTGGT	0.697																																						.											0													22	23	23					15																	79060504		2190	4289	6479	SO:0001589	frameshift_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2616delG	15.37:g.79060504delC	ENSP00000373472:p.Arg872fs		Q14F51|Q6P7J9	Frame_Shift_Del	DEL	ENST00000388820.4	37	CCDS32303.1																																																																																				0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		-	79060504	C	-	79060504	7	5	12	1	0	1	0	1	0	0	0	0	271	854	30	0	2476	0	ADAMTS7	15	79060504	Frame_Shift_Del	DEL	C	TCGA-KL-8334-01A-11D-2310-10	35437883	79060504	23470888	51	887	24	2									
ADAMTS7	11173	bcgsc.ca	37	chr15	79060505	79060505	+	Frame_Shift_Del	DEL	C	C	-																															agggctgctcgctgcacttcCtctgttggtcatcaggccgg																										TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr15:79060505delC	ENST00000388820.4	-	17	2825	c.2615delG	c.(2614-2616)aggfs	p.R872fs	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	872	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCTGCACTTCCTCTGTTGGTC	0.697																																						.											0													22	23	23					15																	79060505		2191	4289	6480	SO:0001589	frameshift_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2615delG	15.37:g.79060505delC	ENSP00000373472:p.Arg872fs		Q14F51|Q6P7J9	Frame_Shift_Del	DEL	ENST00000388820.4	37	CCDS32303.1																																																																																				0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		-	79060505	C	-	79060505	7	5	12	1	0	1	0	1	0	0	0	0	271	681	24	0	2477	0	ADAMTS7	15	79060505	Frame_Shift_Del	DEL	C	TCGA-KL-8334-01A-11D-2310-10	1	79060505	23470887	52	888	24	2									
DECR2	26063	ucsc.edu	37	chr16	461365	461365	+	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	ttctgctgccctccaggtggCcctcaggccagcctgagcac	5	8	11	17	0	2	1	1	1	1	0	3	1	3	1	5	3	4	2	5	3	0	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:461365C>T	ENST00000219481.5	+	8	804	c.666C>T	c.(664-666)ggC>ggT	p.G222G	DECR2_ENST00000424398.2_Silent_p.G210G|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	222					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTCCAGGTGGCCCTCAGGCCA	0.672																																						.											0													31	34	33					16																	461365		2202	4298	6500	SO:0001819	synonymous_variant	26063			AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.666C>T	16.37:g.461365C>T			Q6ZRS7|Q96ET0	Silent	SNP	ENST00000219481.5	37	CCDS10409.1																																																																																				0.672	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		T	461365	C	T	461365	2	4	12	1	0	0	0	0	0	0	0	1	4383	726	26	3		3	DECR2	16	461365	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10		461365	89893388	53	889											
TBC1D24	57465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	2547069	2547069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagctcctgcagatggccaAtgagaaagccctgaagcaga	13	5	11	12	0	0	4	0	2	0	3	1	5	1	4	4	1	4	3	4	1	3	0			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:2547069A>G	ENST00000293970.5	+	2	1053	c.920A>G	c.(919-921)aAt>aGt	p.N307S	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.N307S|TBC1D24_ENST00000567020.1_Missense_Mutation_p.N307S|TBC1D24_ENST00000434757.2_Missense_Mutation_p.N307S	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	307					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CAGATGGCCAATGAGAAAGCC	0.617																																						.											0													45	51	49					16																	2547069		2102	4232	6334	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.920A>G	16.37:g.2547069A>G	ENSP00000293970:p.Asn307Ser		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847006	0.71603	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.24151	1.87;1.87	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.91635	0.904;0.997;0.999	T	0.51244	-0.8730	10	0.46703	T	0.11	-37.885	13.7275	0.62767	1.0:0.0:0.0:0.0	.	307;307;307	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	S	307	ENSP00000293970:N307S;ENSP00000390106:N307S	ENSP00000293970:N307S	N	+	2	0	TBC1D24	2487070	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.399000	0.79935	1.919000	0.55581	0.533000	0.62120	AAT		0.617	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		G	2547069	A	G	2547069	3	3	12	1	0	0	0	0	1	0	0	0	15611	101	4	4	922	4	TBC1D24	16	2547069	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	2085704	2547069	87807684	54	890											
SRRM2	23524	hgsc.bcm.edu	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-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	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																																						.											0													141	121	128					16																	2819139		2198	4300	6498	SO:0001819	synonymous_variant	23524			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			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	12	1	0	0	0	0	0	0	0	1	15168	668	24	4		4	SRRM2	16	2819139	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	272070	2819139	87535614	55	891											
KIAA0430	9665	broad.mit.edu	37	chr16	15718883	15718883	+	Missense_Mutation	SNP	T	T	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	tttcacatacttctgactggTtttgtaaacgggttctgcca	8	16	8	9	1	3	1	1	1	2	0	3	1	3	1	1	2	3	3	1	2	3	7			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:15718883T>C	ENST00000396368.3	-	9	2307	c.2101A>G	c.(2101-2103)Acc>Gcc	p.T701A	KIAA0430_ENST00000540441.2_Missense_Mutation_p.T558A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T698A|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T700A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T698A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	701					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						TTCTGACTGGTTTTGTAAACG	0.478																																						.											0													129	125	126					16																	15718883		1933	4143	6076	SO:0001583	missense	9665			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.2101A>G	16.37:g.15718883T>C	ENSP00000379654:p.Thr701Ala		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	T	13.58	2.279882	0.40294	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	.	.	.	6.08	1.35	0.21983	.	0.834384	0.11312	N	0.576993	T	0.31638	0.0803	L	0.36672	1.1	0.23138	N	0.998239	B;B;B;B	0.15141	0.005;0.012;0.012;0.003	B;B;B;B	0.12156	0.007;0.007;0.007;0.003	T	0.23547	-1.0185	9	0.45353	T	0.12	.	8.3104	0.32068	0.0:0.3151:0.0:0.6849	.	699;698;697;700	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	A	701;558;700;698;700	.	ENSP00000315718:T700A	T	-	1	0	KIAA0430	15626384	0.833000	0.29383	0.033000	0.17914	0.728000	0.41692	0.719000	0.25881	-0.028000	0.13850	0.482000	0.46254	ACC		0.478	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		C	15718883	T	C	15718883	3	2	12	1	0	0	0	0	1	0	0	0	8177	1725	60	2	3206	2	KIAA0430	16	15718883	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	12899744	15718883	74635870	56	892											
LYRM1	57149	bcgsc.ca	37	chr16	20926885	20926885	+	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	ggtgggtctgaagatgacaaCggcaacacgacaagaagtcc	14	5	13	9	2	1	4	0	2	1	2	2	5	2	4	1	3	2	1	1	3	5	0			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:20926885C>T	ENST00000396052.2	+	4	408	c.8C>T	c.(7-9)aCg>aTg	p.T3M	LYRM1_ENST00000569023.1_Missense_Mutation_p.T3M|LYRM1_ENST00000568663.1_Missense_Mutation_p.T3M|LYRM1_ENST00000439021.1_Missense_Mutation_p.T3M|LYRM1_ENST00000219168.4_Missense_Mutation_p.T3M|LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000562740.1_Intron|LYRM1_ENST00000567954.1_Missense_Mutation_p.T3M			O43325	LYRM1_HUMAN	LYR motif containing 1	3						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|prostate(1)	2						AAGATGACAACGGCAACACGA	0.448																																						.											0													101	98	99					16																	20926885		2201	4300	6501	SO:0001583	missense	57149				CCDS10593.1	16p12.2	2008-02-05			ENSG00000102897	ENSG00000102897		"LYR motif containing"	25074	protein-coding gene	gene with protein product		614709				10493829	Standard	NM_020424		Approved	A211C6.1	uc010bwl.3	O43325	OTTHUMG00000131554	ENST00000396052.2:c.8C>T	16.37:g.20926885C>T	ENSP00000379367:p.Thr3Met		B2R4M5	Missense_Mutation	SNP	ENST00000396052.2	37	CCDS10593.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650359	0.29336	.	.	ENSG00000102897	ENST00000439021;ENST00000219168;ENST00000412082;ENST00000396052	.	.	.	5.7	3.77	0.43336	.	0.438148	0.28606	N	0.014745	T	0.25827	0.0629	N	0.16478	0.41	0.23845	N	0.996689	B	0.06786	0.001	B	0.04013	0.001	T	0.15435	-1.0437	9	0.40728	T	0.16	-2.7685	9.6094	0.39654	0.0:0.7879:0.0:0.2121	.	3	O43325	LYRM1_HUMAN	M	3	.	ENSP00000219168:T3M	T	+	2	0	LYRM1	20834386	0.501000	0.26099	0.982000	0.44146	0.768000	0.43524	1.778000	0.38614	0.782000	0.33613	-0.136000	0.14681	ACG		0.448	LYRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254416.1	NM_020424		T	20926885	C	T	20926885	3	4	12	1	0	0	0	0	1	0	0	0	9119	536	19	1	10	1	LYRM1	16	20926885	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	5208002	20926885	69427868	57	893											
IRX3	79191	ucsc.edu	37	chr16	54318841	54318841	+	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	cagagacggcgaggccacggCcactggtggtggcgctggag	7	4	19	11	4	0	1	0	0	0	1	0	4	0	2	2	7	0	1	2	7	0	0	rs567541390		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:54318841C>A	ENST00000329734.3	-	2	1664	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	318	Pro-rich.				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGGCCACGGCCACTGGTGGT	0.667																																					GBM(143;1830 1866 4487 4646 37383)	.											0													7	9	8					16																	54318841		2121	4185	6306	SO:0001583	missense	79191			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.952G>T	16.37:g.54318841C>A	ENSP00000331608:p.Ala318Ser		Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	0.815	-0.750701	0.03041	.	.	ENSG00000177508	ENST00000329734;ENST00000541845	T	0.52754	0.65	4.17	2.21	0.28008	.	0.404066	0.25587	N	0.029650	T	0.21307	0.0513	N	0.08118	0	0.23076	N	0.998335	B	0.23377	0.084	B	0.20184	0.028	T	0.23833	-1.0177	10	0.08599	T	0.76	-4.344	8.1936	0.31383	0.0:0.7998:0.0:0.2002	.	318	P78415	IRX3_HUMAN	S	318;17	ENSP00000331608:A318S	ENSP00000331608:A318S	A	-	1	0	IRX3	52876342	0.002000	0.14202	0.493000	0.27502	0.226000	0.24999	0.216000	0.17585	0.431000	0.26258	0.449000	0.29647	GCC		0.667	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			A	54318841	C	A	54318841	3	1	12	1	0	0	0	0	1	0	0	0	7845	739	26	5	565	5	IRX3	16	54318841	Missense_Mutation	SNP	C	TCGA-KL-8334-01A-11D-2310-10	33391956	54318841	36035912	58	894											
NFAT5	10725	bcgsc.ca	37	chr16	69724942	69724942	+	Missense_Mutation	SNP	T	T	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	tatgattaagagtgaagatgTtactccaatggaagtaacag	16	11	10	4	0	0	4	0	2	0	2	1	5	1	5	1	1	2	2	1	1	7	4			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:69724942T>C	ENST00000354436.2	+	11	2138	c.1820T>C	c.(1819-1821)gTt>gCt	p.V607A	NFAT5_ENST00000567239.1_Missense_Mutation_p.V624A|NFAT5_ENST00000566899.1_Missense_Mutation_p.V531A|NFAT5_ENST00000393742.2_Missense_Mutation_p.V531A|NFAT5_ENST00000349945.1_Missense_Mutation_p.V531A|NFAT5_ENST00000432919.1_Missense_Mutation_p.V625A	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	607					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGTGAAGATGTTACTCCAATG	0.348																																						.											0													99	97	98					16																	69724942		2198	4297	6495	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1820T>C	16.37:g.69724942T>C	ENSP00000346420:p.Val607Ala		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730245	0.48939	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46063	0.89;0.88;0.89;0.88	5.36	5.36	0.76844	.	0.410753	0.27134	N	0.020778	T	0.31167	0.0788	L	0.51422	1.61	0.35732	D	0.818025	B;B;B	0.15473	0.013;0.003;0.0	B;B;B	0.12837	0.008;0.005;0.001	T	0.29088	-1.0023	10	0.09084	T	0.74	-0.7107	6.7615	0.23542	0.0:0.0766:0.1537:0.7697	.	624;607;625	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	A	625;624;531;607;531	ENSP00000396538:V625A;ENSP00000338806:V531A;ENSP00000346420:V607A;ENSP00000377343:V531A	ENSP00000338806:V531A	V	+	2	0	NFAT5	68282443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.410000	0.52664	2.042000	0.60477	0.533000	0.62120	GTT		0.348	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		C	69724942	T	C	69724942	3	2	12	1	0	0	0	0	1	0	0	0	10360	1725	60	2	1920	2	NFAT5	16	69724942	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	15406101	69724942	20629811	59	895											
CLEC18A	348174	mdanderson.org	37	chr16	69988260	69988260	+	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	tggagtgacagcctggcccaGctggctcaagccagggcagc	8	5	15	13	0	1	1	1	1	0	0	1	2	1	2	3	4	4	3	3	4	1	0	rs684036	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:69988260G>A	ENST00000288040.6	+	3	427	c.240G>A	c.(238-240)caG>caA	p.Q80Q	CLEC18A_ENST00000568461.1_Silent_p.Q80Q|CLEC18A_ENST00000393701.2_Silent_p.Q80Q|CLEC18A_ENST00000449317.2_Silent_p.Q80Q	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	80	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GCCTGGCCCAGCTGGCTCAAG	0.647													.|||	759	0.151558	0.0174	0.2709	5008	,	,		17235	0.0704		0.328	False		,,,				2504	0.1503					.											0								A	,	3,4371		0,3,2184	48	36	40		240,240	-3.4	0	16	dbSNP_83	40	221,7801		0,221,3790	no	coding-synonymous,coding-synonymous	CLEC18A	NM_001136214.1,NM_182619.2	,	0,224,5974	AA,AG,GG		2.7549,0.0686,1.807	,	80/447,80/447	69988260	224,12172	2187	4011	6198	SO:0001819	synonymous_variant	348174			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.240G>A	16.37:g.69988260G>A			A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Silent	SNP	ENST00000288040.6	37	CCDS10886.1																																																																																				0.647	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		A	69988260	G	A	69988260	2	1	12	1	0	0	0	0	0	0	0	1	3502	962	34	4		4	CLEC18A	16	69988260	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10	263318	69988260	20366493	60	896											
HOXB4	3214	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr17	46654334	46654334	+	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	ccaagacctgctggcgcgtgTaggcggtccgagagcgcttg	6	7	16	12	5	0	2	0	0	0	2	1	3	1	2	3	3	2	3	3	3	2	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr17:46654334T>A	ENST00000332503.5	-	2	2297	c.506A>T	c.(505-507)tAc>tTc	p.Y169F	HOXB3_ENST00000311626.4_5'Flank|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	169					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						CTGGCGCGTGTAGGCGGTCCG	0.607																																						.											0													60	65	63					17																	46654334		2203	4300	6503	SO:0001583	missense	3214				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.506A>T	17.37:g.46654334T>A	ENSP00000328928:p.Tyr169Phe		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777571	0.90195	.	.	ENSG00000182742	ENST00000332503	D	0.94828	-3.53	5.27	4.2	0.49525	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	N	0.11892	0.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93155	0.6553	10	0.87932	D	0	.	10.5006	0.44804	0.0:0.0772:0.0:0.9228	.	169	P17483	HXB4_HUMAN	F	169	ENSP00000328928:Y169F	ENSP00000328928:Y169F	Y	-	2	0	HOXB4	44009333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.250000	0.72435	0.852000	0.35287	0.459000	0.35465	TAC		0.607	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			A	46654334	T	A	46654334	3	1	12	1	0	0	0	0	1	0	0	0	7303	1638	57	5	253	5	HOXB4	17	46654334	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10		46654334	34540876	61	897											
SGCA	6442	hgsc.bcm.edu	37	chr17	48245013	48245013	+	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	ccagacctgccccggtggctCcgctacacccagcgcagccc	6	4	10	21	3	0	1	0	0	0	1	1	1	1	1	7	2	4	3	7	2	1	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr17:48245013C>T	ENST00000262018.3	+	3	264	c.228C>T	c.(226-228)ctC>ctT	p.L76L	SGCA_ENST00000451235.2_Intron|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000344627.6_Silent_p.L76L|SGCA_ENST00000543315.1_Silent_p.L76L|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	76					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCCGGTGGCTCCGCTACACCC	0.667																																						.											0													47	47	47					17																	48245013		2203	4300	6503	SO:0001819	synonymous_variant	6442			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.228C>T	17.37:g.48245013C>T			A6NEB8|A8K3K7|Q13710|Q13712	Silent	SNP	ENST00000262018.3	37	CCDS32679.1																																																																																				0.667	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		T	48245013	C	T	48245013	2	4	12	1	0	0	0	0	0	0	0	1	14199	842	30	3		3	SGCA	17	48245013	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	1590679	48245013	32950197	62	898											
KIF19	124602	ucsc.edu	37	chr17	72339295	72339295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtctccatgtcctaccTggaggtgagtcccccagcct	6	10	11	14	0	1	2	0	2	1	0	4	3	3	3	6	3	2	0	6	3	1	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr17:72339295T>C	ENST00000389916.4	+	5	590	c.452T>C	c.(451-453)cTg>cCg	p.L151P		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	151	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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						ATGTCCTACCTGGAGGTGAGT	0.617																																						.											0													70	55	60					17																	72339295		2203	4300	6503	SO:0001583	missense	124602			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.452T>C	17.37:g.72339295T>C	ENSP00000374566:p.Leu151Pro		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044207	0.75732	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.80393	-0.94;-1.37	5.48	5.48	0.80851	Kinesin, motor domain (4);	.	.	.	.	D	0.93504	0.7927	H	0.98155	4.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.986;0.99;0.99	D	0.95672	0.8724	9	0.87932	D	0	.	14.6067	0.68483	0.0:0.0:0.0:1.0	.	151;151;151;151	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	P	151	ENSP00000449134:L151P;ENSP00000374566:L151P	ENSP00000374566:L151P	L	+	2	0	KIF19	69850890	1.000000	0.71417	0.999000	0.59377	0.626000	0.37791	7.518000	0.81795	2.103000	0.63969	0.454000	0.30748	CTG		0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		C	72339295	T	C	72339295	3	2	12	1	0	0	0	0	1	0	0	0	8282	1580	55	2	470	2	KIF19	17	72339295	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	24094282	72339295	8855915	63	899											
KIAA1012	22878	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr18	29511428	29511428	+	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	ggctgggtgacaatgttgctTactgctatcttcaaattttt	8	17	9	7	0	2	1	1	1	1	0	2	1	2	1	0	2	3	4	0	2	4	6			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr18:29511428T>C	ENST00000283351.4	-	2	551	c.216A>G	c.(214-216)gtA>gtG	p.V72V	TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582539.1_Silent_p.V18V|TRAPPC8_ENST00000582513.1_Silent_p.V72V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	72					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						CAATGTTGCTTACTGCTATCT	0.368																																						.											0													147	148	148					18																	29511428		2203	4300	6503	SO:0001819	synonymous_variant	22878			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.216A>G	18.37:g.29511428T>C			A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																				0.368	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		C	29511428	T	C	29511428	2	2	12	1	0	0	0	0	0	0	0	1	8204	1741	61	4		4	KIAA1012	18	29511428	Silent	SNP	T	TCGA-KL-8334-01A-11D-2310-10		29511428	48565820	64	900											
DOT1L	84444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	2207667	2207667	+	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	tcctactacctgcacactatCgaccgcaccatagtgagtat	11	10	6	14	2	0	1	0	1	0	0	2	2	1	1	4	0	3	3	4	0	5	5			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:2207667C>T	ENST00000398665.3	+	11	987	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	317	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				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)		TGCACACTATCGACCGCACCA	0.632																																						.											0													72	85	80					19																	2207667		2187	4267	6454	SO:0001819	synonymous_variant	84444			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.951C>T	19.37:g.2207667C>T			O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724445	0.30593	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.84	-2.37	0.06643	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45891	-0.9230	4	.	.	.	-25.0987	6.4921	0.22121	0.1462:0.1694:0.0:0.6845	.	.	.	.	L	104	.	.	S	+	2	0	DOT1L	2158667	0.977000	0.34250	0.993000	0.49108	0.972000	0.66771	0.145000	0.16157	-0.138000	0.11434	-0.793000	0.03317	TCG		0.632	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2207667	C	T	2207667	2	4	12	1	0	0	0	0	0	0	0	1	4709	874	31	1		1	DOT1L	19	2207667	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10		2207667	56921316	65	901											
MUC16	94025	mdanderson.org	37	chr19	8999479	8999479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctcccagtatagctGctctctgtccagtccagggc	6	10	10	15	0	2	0	1	0	1	0	6	0	5	0	3	1	3	5	3	1	2	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:8999479G>T	ENST00000397910.4	-	56	40899	c.40696C>A	c.(40696-40698)Cag>Aag	p.Q13566K	MUC16_ENST00000380951.5_Missense_Mutation_p.Q207K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13568	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTATAGCTGCTCTCTGTCC	0.587																																						.											0													172	145	153					19																	8999479		1997	4180	6177	SO:0001583	missense	94025			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.40696C>A	19.37:g.8999479G>T	ENSP00000381008:p.Gln13566Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.047|0.047	-1.262604|-1.262604	0.01445|0.01445	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.35421|.	1.31;1.31|.	3.48|3.48	1.01|1.01	0.19927|0.19927	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.48642|0.48642	1.525|1.525	.|.	.|.	.|.	B;P|.	0.39576|.	0.025;0.679|.	B;P|.	0.47044|.	0.025;0.535|.	T|T	0.52601|0.52601	-0.8554|-0.8554	8|4	0.11794|.	T|.	0.64|.	-0.0012|-0.0012	7.5959|7.5959	0.28048|0.28048	0.0:0.0:0.5377:0.4623|0.0:0.0:0.5377:0.4623	.|.	21211;13566|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	K|R	13566;207|405	ENSP00000381008:Q13566K;ENSP00000370338:Q207K|.	ENSP00000370338:Q207K|.	Q|S	-|-	1|3	0|2	MUC16|MUC16	8860479|8860479	0.000000|0.000000	0.05858|0.05858	0.644000|0.644000	0.29465|0.29465	0.069000|0.069000	0.16628|0.16628	-0.955000|-0.955000	0.03869|0.03869	0.786000|0.786000	0.33708|0.33708	0.555000|0.555000	0.69702|0.69702	CAG|AGC		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8999479	G	T	8999479	3	4	12	1	0	0	0	0	1	0	0	0	9973	1328	46	5	2943	5	MUC16	19	8999479	Missense_Mutation	SNP	G	TCGA-KL-8334-01A-11D-2310-10	6791812	8999479	50129504	66	902											
ICAM5	7087	mdanderson.org	37	chr19	10407169	10407169	+	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	tcaggcgaggccgtgtgtctGaacggagcgggcggcggcgc	5	5	20	11	7	2	1	1	1	1	0	2	3	2	2	1	6	2	0	1	6	1	0	rs710845	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:10407169G>C	ENST00000221980.4	+	11	2715	c.2652G>C	c.(2650-2652)ctG>ctC	p.L884L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	884					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)			CCGTGTGTCTGAACGGAgcgg	0.771													C|||	2557	0.510583	0.5681	0.6455	5008	,	,		6247	0.3313		0.5895	False		,,,				2504	0.4407					.											0								C		1682,962		566,550,206	4	3	3		2652	0.5	1	19	dbSNP_86	3	2905,1749		979,947,401	no	coding-synonymous	ICAM5	NM_003259.3		1545,1497,607	CC,CG,GG		37.5806,36.3843,37.1472		884/925	10407169	4587,2711	1322	2327	3649	SO:0001819	synonymous_variant	7087			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.2652G>C	19.37:g.10407169G>C			Q9Y6F3	Silent	SNP	ENST00000221980.4	37	CCDS12233.1																																																																																				0.771	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		C	10407169	G	C	10407169	2	2	12	1	0	0	0	0	0	0	0	1	7483	1277	45	5		5	ICAM5	19	10407169	Silent	SNP	G	TCGA-KL-8334-01A-11D-2310-10	1407690	10407169	48721814	67	903											
LRP3	4037	broad.mit.edu	37	chr19	33697008	33697008	+	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	aacaaccagaaaagctgtccCgacggcgccgacgagaagaa	16	2	11	12	5	0	3	0	0	0	3	1	6	1	3	3	1	3	1	3	1	6	0	rs201999025		TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:33697008C>T	ENST00000253193.7	+	5	1534	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	444	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)					AAAGCTGTCCCGACGGCGCCG	0.662													C|||	1	0.000199681	0	0.0014	5008	,	,		15326	0		0	False		,,,				2504	0					.											0													24	24	24					19																	33697008		2200	4297	6497	SO:0001819	synonymous_variant	4037			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.1332C>T	19.37:g.33697008C>T			B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																				0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33697008	C	T	33697008	2	4	12	1	0	0	0	0	0	0	0	1	8958	639	23	1		1	LRP3	19	33697008	Silent	SNP	C	TCGA-KL-8334-01A-11D-2310-10	23289839	33697008	25431975	68	904											
GPCPD1	56261	broad.mit.edu	37	chr20	5548180	5548180	+	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	tcttttactggaatttcaaaTaattcaactggatcagcatc	13	15	5	8	0	4	0	3	0	1	0	5	2	4	2	0	2	3	1	0	2	5	5			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr20:5548180T>A	ENST00000379019.4	-	13	1388	c.1176A>T	c.(1174-1176)ttA>ttT	p.L392F	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	392	GP-PDE.				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						GAATTTCAAATAATTCAACTG	0.249																																						.											0													68	77	74					20																	5548180		2201	4298	6499	SO:0001583	missense	56261				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.1176A>T	20.37:g.5548180T>A	ENSP00000368305:p.Leu392Phe		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731877	0.69189	.	.	ENSG00000125772	ENST00000379019	T	0.11930	2.73	5.05	-0.32	0.12721	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.64402	D	0.000001	T	0.23171	0.0560	L	0.57536	1.79	0.52501	D	0.99995	D	0.89917	1.0	D	0.91635	0.999	T	0.27872	-1.0061	10	0.09590	T	0.72	-14.4099	8.5129	0.33229	0.0:0.5133:0.0:0.4867	.	392	Q9NPB8	GPCP1_HUMAN	F	392	ENSP00000368305:L392F	ENSP00000368305:L392F	L	-	3	2	GPCPD1	5496180	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.120000	0.31271	0.059000	0.16252	0.455000	0.32223	TTA		0.249	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		A	5548180	T	A	5548180	3	1	12	1	0	0	0	0	1	0	0	0	6603	1403	49	5	874	5	GPCPD1	20	5548180	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10		5548180	57477340	69	905											
USP9X	8239	broad.mit.edu;hgsc.bcm.edu	37	chrX	41088984	41088985	+	Frame_Shift_Ins	INS	-	-	A																															atttcttggagagatcacatINSagtgctaggatgacacttgc																										TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:41088984_41088985insA	ENST00000324545.8	+	43	8016_8017	c.7383_7384insA	c.(7384-7386)agtfs	p.S2462fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.S2462fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2462					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGAGATCACATAGTGCTAGGAT	0.431																																					Ovarian(172;1807 2695 35459 49286)	.											0																																										SO:0001589	frameshift_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7384dupA	X.37:g.41088985_41088985dupA	ENSP00000316357:p.Ser2462fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	CCDS43930.1																																																																																				0.431	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41088985	-	A	41088984	7	5	12	1	0	1	1	0	0	0	0	0	17087	1403	49	0	7549	0	USP9X	23	41088984	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10		41088984	114181576	70	906	25	2									
USP9X	8239	bcgsc.ca	37	chrX	41088985	41088986	+	Frame_Shift_Ins	INS	-	-	A																															tttcttggagagatcacataINSgtgctaggatgacacttgca																										TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:41088985_41088986insA	ENST00000324545.8	+	43	8017_8018	c.7384_7385insA	c.(7384-7386)agtfs	p.S2462fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.S2462fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2462					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAGATCACATAGTGCTAGGATG	0.426																																					Ovarian(172;1807 2695 35459 49286)	.											0																																										SO:0001589	frameshift_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7384dupA	X.37:g.41088985_41088985dupA	ENSP00000316357:p.Ser2462fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	CCDS43930.1																																																																																				0.426	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41088986	-	A	41088985	7	5	12	1	0	1	1	0	0	0	0	0	17087	420	15	0	7550	0	USP9X	23	41088985	Frame_Shift_Ins	INS	-	TCGA-KL-8334-01A-11D-2310-10	1	41088985	114181575	71	907	25	2									
SHROOM4	57477	broad.mit.edu	37	chrX	50376364	50376364	+	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	gggcagatttccccagaacaAtaaatgcaaggatcatggac	15	7	10	9	0	1	2	1	0	0	2	2	4	2	4	2	3	2	2	2	3	5	2			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:50376364A>G	ENST00000289292.7	-	4	2992	c.2709T>C	c.(2707-2709)taT>taC	p.Y903Y	SHROOM4_ENST00000460112.3_Silent_p.Y787Y|SHROOM4_ENST00000376020.2_Silent_p.Y903Y			Q9ULL8	SHRM4_HUMAN	shroom family member 4	903	Cys-rich.				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)					CCCCAGAACAATAAATGCAAG	0.463																																						.											0													74	61	66					X																	50376364		2203	4300	6503	SO:0001819	synonymous_variant	57477			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.2709T>C	X.37:g.50376364A>G			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.463	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		G	50376364	A	G	50376364	2	3	12	1	0	0	0	0	0	0	0	1	14296	108	4	4		4	SHROOM4	23	50376364	Silent	SNP	A	TCGA-KL-8334-01A-11D-2310-10	9287379	50376364	104894196	72	908											
PASD1	139135	broad.mit.edu	37	chrX	150791421	150791421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttagagtttcctgtggTctttagtggcttgttttcca	4	20	9	8	0	1	1	0	0	1	1	4	1	4	1	3	2	0	3	3	2	2	8			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:150791421T>C	ENST00000370357.4	+	7	676	c.431T>C	c.(430-432)gTc>gCc	p.V144A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	144						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGTGGTCTTTAGTGGC	0.448																																						.											0													258	214	229					X																	150791421		2203	4300	6503	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.431T>C	X.37:g.150791421T>C	ENSP00000359382:p.Val144Ala		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110219	0.20714	.	.	ENSG00000166049	ENST00000370357	T	0.68903	-0.36	3.78	1.21	0.21127	.	.	.	.	.	T	0.38241	0.1033	N	0.14661	0.345	0.09310	N	1	B	0.32382	0.368	B	0.29176	0.099	T	0.30966	-0.9960	9	0.02654	T	1	.	5.8489	0.18681	0.4373:0.0:0.0:0.5627	.	144	Q8IV76	PASD1_HUMAN	A	144	ENSP00000359382:V144A	ENSP00000359382:V144A	V	+	2	0	PASD1	150542077	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	1.042000	0.30303	0.130000	0.18549	0.417000	0.27973	GTC		0.448	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		C	150791421	T	C	150791421	3	2	12	1	0	0	0	0	1	0	0	0	11471	1667	58	2	453	2	PASD1	23	150791421	Missense_Mutation	SNP	T	TCGA-KL-8334-01A-11D-2310-10	100415057	150791421	4479139	73	909											
ATP2B3	492	broad.mit.edu	37	chrX	152823628	152823628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatcctgaccgatgacaActtcaccagcatcgtcaagg	12	8	7	14	2	3	2	3	2	0	0	5	3	4	2	3	1	2	1	3	1	2	1			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:152823628A>G	ENST00000349466.2	+	16	2818	c.2492A>G	c.(2491-2493)aAc>aGc	p.N831S	ATP2B3_ENST00000263519.4_Missense_Mutation_p.N831S|ATP2B3_ENST00000370186.1_Missense_Mutation_p.N817S|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Missense_Mutation_p.N831S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.N817S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.N817S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	831					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCGATGACAACTTCACCAGC	0.572																																						.											0													239	148	179					X																	152823628		2203	4300	6503	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2492A>G	X.37:g.152823628A>G	ENSP00000343886:p.Asn831Ser		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.368767	0.82463	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	4.84	4.84	0.62591	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.77103	2.36	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98863	1.0763	10	0.87932	D	0	-40.3883	12.5684	0.56322	1.0:0.0:0.0:0.0	.	831;831	Q16720;Q16720-2	AT2B3_HUMAN;.	S	817;831;817;831;831;817	ENSP00000359205:N817S;ENSP00000343886:N831S;ENSP00000377425:N817S;ENSP00000352062:N831S;ENSP00000263519:N831S;ENSP00000359200:N817S	ENSP00000263519:N831S	N	+	2	0	ATP2B3	152476822	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.335000	0.96500	1.603000	0.50134	0.378000	0.23410	AAC		0.572	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		G	152823628	A	G	152823628	3	3	12	1	0	0	0	0	1	0	0	0	1141	43	2	2	2550	2	ATP2B3	23	152823628	Missense_Mutation	SNP	A	TCGA-KL-8334-01A-11D-2310-10	2032207	152823628	2446932	74	910											
ACAP3	116983	ucsc.edu;bcgsc.ca	37	chr1	1229272	1229272	+	Missense_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	cccgctgctcttggtccaggGcgtgctggtccgcgccccgc	1	8	14	18	5	1	0	0	0	1	0	3	0	3	0	5	3	2	3	5	3	0	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:1229272G>A	ENST00000354700.5	-	23	2493	c.2291C>T	c.(2290-2292)gCc>gTc	p.A764V	ACAP3_ENST00000353662.3_Missense_Mutation_p.A689V|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	764					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						TTGGTCCAGGGCGTGCTGGTC	0.741																																						.											0													19	19	19					1																	1229272		2095	4151	6246	SO:0001583	missense	116983			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.2291C>T	1.37:g.1229272G>A	ENSP00000346733:p.Ala764Val		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	CCDS19.2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064997	0.36470	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.35048	1.33;1.33	4.28	4.28	0.50868	Ankyrin repeat-containing domain (4);	0.202694	0.41712	D	0.000832	T	0.27697	0.0681	L	0.47078	1.49	0.38407	D	0.945824	P;B	0.47484	0.896;0.138	B;B	0.37601	0.254;0.026	T	0.17440	-1.0369	10	0.09590	T	0.72	.	15.7782	0.78240	0.0:0.0:1.0:0.0	.	764;689	Q96P50;Q96P50-1	ACAP3_HUMAN;.	V	764;689	ENSP00000346733:A764V;ENSP00000321139:A689V	ENSP00000321139:A689V	A	-	2	0	ACAP3	1219135	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	4.242000	0.58714	2.370000	0.80446	0.549000	0.68633	GCC		0.741	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		A	1229272	G	A	1229272	3	1	13	1	0	0	0	0	1	0	0	0	120	1203	42	3	221	3	ACAP3	1	1229272	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		1229272	248021349	1	911											
CC2D1B	200014	ucsc.edu	37	chr1	52825206	52825206	+	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	ctccaggacagcaccgaatcTctgcagaagttggaaaagca	14	6	10	11	1	1	1	0	0	1	1	3	4	2	3	2	2	3	4	2	2	4	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:52825206T>C	ENST00000371586.2	-	9	1081	c.943A>G	c.(943-945)Aga>Gga	p.R315G	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Splice_Site_p.R315G|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	315						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCACCGAATCTCTGCAGAAGT	0.582																																						.											0													34	38	36					1																	52825206		2203	4300	6503	SO:0001630	splice_region_variant	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.943-1A>G	1.37:g.52825206T>C			Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292788	0.23564	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.27557	1.66;1.66	4.84	3.7	0.42460	Domain of unknown function DM14 (1);	0.563629	0.19178	N	0.120751	T	0.14227	0.0344	N	0.05124	-0.11	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.07233	-1.0783	10	0.15066	T	0.55	-4.0055	10.9531	0.47341	0.0:0.0:0.1573:0.8427	.	101;315	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	G	315;315;229	ENSP00000360642:R315G;ENSP00000284376:R315G	ENSP00000284376:R315G	R	-	1	2	CC2D1B	52597794	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	2.944000	0.49034	0.857000	0.35407	0.529000	0.55759	AGA		0.582	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	Missense_Mutation	C	52825206	T	C	52825206	5	2	13	1	0	0	0	0	0	0	1	0	2727	1565	54	2	1697	2	CC2D1B	1	52825206	Splice_Site	SNP	T	TCGA-KL-8335-01A-11D-2310-10	51595934	52825206	196425415	2	912											
PCSK9	255738	ucsc.edu	37	chr1	55505643	55505643	+	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	acgaggagctggtgctagccTtgcgttccgaggaggacggc	7	7	17	10	4	0	0	0	0	0	0	1	5	1	3	2	5	4	3	2	5	1	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:55505643T>C	ENST00000302118.5	+	1	423	c.133T>C	c.(133-135)Ttg>Ctg	p.L45L	PCSK9_ENST00000543384.1_5'Flank|PCSK9_ENST00000452118.2_Silent_p.L45L	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	45					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGTGCTAGCCTTGCGTTCCGA	0.711																																					Pancreas(137;1454 1827 5886 22361 42375)	.											0													36	29	31					1																	55505643		2185	4268	6453	SO:0001819	synonymous_variant	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.133T>C	1.37:g.55505643T>C			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																				0.711	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		C	55505643	T	C	55505643	2	2	13	1	0	0	0	0	0	0	0	1	11606	1606	56	2		2	PCSK9	1	55505643	Silent	SNP	T	TCGA-KL-8335-01A-11D-2310-10	2680437	55505643	193744978	3	913											
AK5	26289	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	77759511	77759511	+	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	ctcaaactttccatatcggcGgtatgaccggctccctccaa	9	10	7	15	3	1	1	1	1	0	0	5	1	4	1	4	3	1	2	4	3	4	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:77759511G>A	ENST00000354567.2	+	3	544	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	AK5_ENST00000344720.5_Missense_Mutation_p.R68Q|AK5_ENST00000317704.4_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	94					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCATATCGGCGGTATGACCGG	0.398																																						.											0													66	69	68					1																	77759511		2203	4300	6503	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.281G>A	1.37:g.77759511G>A	ENSP00000346577:p.Arg94Gln		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125882	0.94429	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.84730	-0.57;-0.67;-1.89	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.45794	0.493	T	0.81369	-0.0964	10	0.62326	D	0.03	-0.0067	19.2875	0.94084	0.0:0.0:1.0:0.0	.	94	Q9Y6K8	KAD5_HUMAN	Q	94;68;68	ENSP00000346577:R94Q;ENSP00000341430:R68Q;ENSP00000434409:R68Q	ENSP00000341430:R68Q	R	+	2	0	AK5	77532099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.534000	0.82004	2.645000	0.89757	0.561000	0.74099	CGG		0.398	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		A	77759511	G	A	77759511	3	1	13	1	0	0	0	0	1	0	0	0	443	1116	39	1	291	1	AK5	1	77759511	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	22253868	77759511	171491110	4	914											
DNM3	26052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	171890935	171890935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacaagacgacctcttgTgctgcagcttgttacttcta	9	14	8	10	1	2	1	0	0	2	1	2	2	2	1	1	0	5	5	1	0	4	6			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:171890935T>C	ENST00000355305.5	+	2	366	c.209T>C	c.(208-210)gTg>gCg	p.V70A	DNM3_ENST00000367733.2_Missense_Mutation_p.V70A|DNM3_ENST00000520906.1_Missense_Mutation_p.V70A|DNM3_ENST00000367731.1_Missense_Mutation_p.V70A|DNM3_ENST00000358155.4_Missense_Mutation_p.V70A			Q9UQ16	DYN3_HUMAN	dynamin 3	70	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						CGACCTCTTGTGCTGCAGCTT	0.448																																						.											0													121	114	116					1																	171890935		1914	4123	6037	SO:0001583	missense	26052			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.209T>C	1.37:g.171890935T>C	ENSP00000347457:p.Val70Ala		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	T	24.3	4.514110	0.85389	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.90145	3.09	0.45883	D	0.998739	P;D;D;P	0.56287	0.749;0.966;0.975;0.862	P;D;D;P	0.67382	0.826;0.923;0.951;0.791	D	0.99501	1.0953	10	0.87932	D	0	.	12.5617	0.56286	0.0:0.0:0.0:1.0	.	70;70;70;70	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	A	70	ENSP00000350876:V70A;ENSP00000356707:V70A;ENSP00000347457:V70A;ENSP00000356705:V70A;ENSP00000429701:V70A	ENSP00000347457:V70A	V	+	2	0	DNM3	170157558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.662000	0.61525	2.217000	0.71921	0.533000	0.62120	GTG		0.448	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		C	171890935	T	C	171890935	3	2	13	1	0	0	0	0	1	0	0	0	4673	1696	59	2	215	2	DNM3	1	171890935	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	94131424	171890935	77359686	5	915											
ENAH	55740	mdanderson.org	37	chr1	225755060	225755060	+	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	caccagctggcacccacttcTtattggcatcatcataaacc	11	10	5	15	0	3	0	2	0	1	0	3	0	3	0	3	2	2	3	3	2	3	4			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:225755060T>A	ENST00000366844.3	-	2	513	c.62A>T	c.(61-63)aAg>aTg	p.K21M	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Missense_Mutation_p.K21M|ENAH_ENST00000366843.2_Missense_Mutation_p.K21M	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	21	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CACCCACTTCTTATTGGCATC	0.398																																						.											0													174	158	164					1																	225755060		2203	4300	6503	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.62A>T	1.37:g.225755060T>A	ENSP00000355809:p.Lys21Met		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453247	0.63290	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	D;D;D	0.99005	-5.32;-5.32;-5.32	5.65	5.65	0.86999	EVH1 (3);Pleckstrin homology-type (1);Ran binding protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	M	0.90977	3.165	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.977;0.986	D	0.98667	1.0686	10	0.87932	D	0	-24.5772	16.1778	0.81874	0.0:0.0:0.0:1.0	.	21;21	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	M	21;21;21;20	ENSP00000355809:K21M;ENSP00000355808:K21M;ENSP00000284563:K21M	ENSP00000284563:K21M	K	-	2	0	ENAH	223821683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.170000	0.71920	2.279000	0.76181	0.533000	0.62120	AAG		0.398	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		A	225755060	T	A	225755060	3	1	13	1	0	0	0	0	1	0	0	0	5111	1609	56	5	1769	5	ENAH	1	225755060	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	53864125	225755060	23495561	6	916											
EXO1	9156	bcgsc.ca	37	chr1	242042205	242042205	+	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	tggttgacacagatgtagcaCgtaattcaagtgatgacatt	13	12	10	6	1	1	4	1	3	0	1	1	4	1	4	0	1	1	4	0	1	3	5	rs145789527		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:242042205C>T	ENST00000366548.3	+	13	2262	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	EXO1_ENST00000518483.1_Missense_Mutation_p.R557C|EXO1_ENST00000348581.5_Missense_Mutation_p.R557C	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	557					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGATGTAGCACGTAATTCAAG	0.418								Editing and processing nucleases					C|||	1	0.000199681	0	0	5008	,	,		19127	0.001		0	False		,,,				2504	0					.											0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	141	129	133		1669,1669,1669	1.9	0	1	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EXO1	NM_003686.4,NM_006027.4,NM_130398.3	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	557/804,557/847,557/847	242042205	1,13005	2203	4300	6503	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1669C>T	1.37:g.242042205C>T	ENSP00000355506:p.Arg557Cys		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107222	0.20714	0.0	1.16E-4	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32988	1.43;1.43;1.43	4.78	1.93	0.25924	.	2.173490	0.03320	N	0.191799	T	0.24547	0.0595	N	0.22421	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	0.28618	-1.0038	10	0.56958	D	0.05	-8.5195	8.3411	0.32243	0.0:0.737:0.0:0.263	.	556;557;557	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	C	557	ENSP00000355506:R557C;ENSP00000311873:R557C;ENSP00000430251:R557C	ENSP00000311873:R557C	R	+	1	0	EXO1	240108828	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.413000	0.07123	0.262000	0.21774	-0.143000	0.13931	CGT		0.418	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		T	242042205	C	T	242042205	3	4	13	1	0	0	0	0	1	0	0	0	5300	536	19	1	1707	1	EXO1	1	242042205	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	16287145	242042205	7208416	7	917											
HNRNPU	3192	broad.mit.edu	37	chr1	245021520	245021520	+	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	ttactgattttgaaggcaacGccaagatcttgtccattctt	10	15	7	9	1	2	3	0	2	2	1	3	3	3	3	2	1	2	1	2	1	4	6			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:245021520G>A	ENST00000283179.9	-	7	1450	c.1287C>T	c.(1285-1287)ggC>ggT	p.G429G	HNRNPU_ENST00000444376.2_Silent_p.G410G|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	429	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N405_K417delNGQDLGVAFKISK(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGAAGGCAACGCCAAGATCTT	0.403																																					NSCLC(33;911 1010 3329 23631 49995)	.											1	Deletion - In frame(1)	NS(1)											69	62	65					1																	245021520		2203	4300	6503	SO:0001819	synonymous_variant	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1287C>T	1.37:g.245021520G>A			O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	CCDS41479.1																																																																																				0.403	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		A	245021520	G	A	245021520	2	1	13	1	0	0	0	0	0	0	0	1	7273	1074	38	1		1	HNRNPU	1	245021520	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	2979315	245021520	4229101	8	918											
MPHOSPH10	10199	broad.mit.edu;hgsc.bcm.edu	37	chr2	71366962	71366963	+	In_Frame_Ins	INS	-	-	AGG																															aaaccacccttcaactggaaINSgatatcattaaacagaggat																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:71366962_71366963insAGG	ENST00000244230.2	+	6	1630_1631	c.1278_1279insAGG	c.(1279-1281)gat>AGGgat	p.426_427insR		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	426					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTCAACTGGAAGATATCATTAA	0.337																																						.											0																																										SO:0001652	inframe_insertion	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	Exception_encountered	2.37:g.71366962_71366963insAGG	ENSP00000244230:p.Glu426_Asp427insArg		A0AVJ8	In_Frame_Ins	INS	ENST00000244230.2	37	CCDS1916.1																																																																																				0.337	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		AGG	71366963	-	AGG	71366962	7	5	13	1	0	1	1	0	0	0	0	0	9725	69	3	0	1300	0	MPHOSPH10	2	71366962	In_Frame_Ins	INS	-	TCGA-KL-8335-01A-11D-2310-10		71366962	171832411	9	919	26	2									
MPHOSPH10	10199	bcgsc.ca	37	chr2	71366963	71366964	+	In_Frame_Ins	INS	-	-	AGG																															aaccacccttcaactggaagINSatatcattaaacagaggata																								rs536292890		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:71366963_71366964insAGG	ENST00000244230.2	+	6	1631_1632	c.1279_1280insAGG	c.(1279-1281)gat>gAGGat	p.426_427insE		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	426					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TCAACTGGAAGATATCATTAAA	0.337																																						.											0																																										SO:0001652	inframe_insertion	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	Exception_encountered	2.37:g.71366963_71366964insAGG	ENSP00000244230:p.Glu426_Glu426dup		A0AVJ8	In_Frame_Ins	INS	ENST00000244230.2	37	CCDS1916.1																																																																																				0.337	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		AGG	71366964	-	AGG	71366963	7	5	13	1	0	1	1	0	0	0	0	0	9725	942	33	0	1301	0	MPHOSPH10	2	71366963	In_Frame_Ins	INS	-	TCGA-KL-8335-01A-11D-2310-10	1	71366963	171832410	10	920	26	2									
PCGF1	84759	broad.mit.edu;hgsc.bcm.edu	37	chr2	74734182	74734183	+	Frame_Shift_Del	DEL	CT	CT	-																															cactcacaagtatgaagacaCtctgtgatggtggtggcatc																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:74734182_74734183delCT	ENST00000233630.6	-	2	1096_1097	c.185_186delAG	c.(184-186)gagfs	p.E62fs	LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	62					histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TATGAAGACACTCTGTGATGGT	0.515																																						.											0																																										SO:0001589	frameshift_variant	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.185_186delAG	2.37:g.74734184_74734185delCT	ENSP00000233630:p.Glu62fs		Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	CCDS1946.2																																																																																				0.515	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		-	74734183	CT	-	74734182	7	5	13	1	0	1	0	1	0	0	0	0	11574	564	20	0	625	0	PCGF1	2	74734182	Frame_Shift_Del	DEL	CT	TCGA-KL-8335-01A-11D-2310-10	3367219	74734182	168465191	11	921	27	2									
PCGF1	84759	bcgsc.ca	37	chr2	74734183	74734184	+	Frame_Shift_Del	DEL	CT	CT	-																															actcacaagtatgaagacacTctgtgatggtggtggcatcc																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:74734183_74734184delCT	ENST00000233630.6	-	2	1095_1096	c.184_185delAG	c.(184-186)aggfs	p.R62fs	LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	62					histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						ATGAAGACACTCTGTGATGGTG	0.52																																						.											0																																										SO:0001589	frameshift_variant	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.184_185delAG	2.37:g.74734183_74734184delCT	ENSP00000233630:p.Arg62fs		Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	CCDS1946.2																																																																																				0.52	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		-	74734184	CT	-	74734183	7	5	13	1	0	1	0	1	0	0	0	0	11574	1551	54	0	626	0	PCGF1	2	74734183	Frame_Shift_Del	DEL	CT	TCGA-KL-8335-01A-11D-2310-10	1	74734183	168465190	12	922	27	2									
RETSAT	54884	hgsc.bcm.edu;ucsc.edu	37	chr2	85573123	85573123	+	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	aggcagcgggcgttccccggCagtaggtgttcataggtgtt	6	10	16	9	3	1	0	1	0	0	0	2	0	2	0	2	5	1	6	2	5	2	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:85573123C>A	ENST00000295802.4	-	6	1204	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	RETSAT_ENST00000263854.6_Silent_p.L364L|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Silent_p.L303L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	364					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CGTTCCCCGGCAGTAGGTGTT	0.587																																						.											0													127	114	118					2																	85573123		2203	4300	6503	SO:0001819	synonymous_variant	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1092G>T	2.37:g.85573123C>A			A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	7.184	0.590258	0.13812	.	.	ENSG00000042445	ENST00000449375	.	.	.	5.4	2.58	0.30949	.	.	.	.	.	T	0.52948	0.1766	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40720	-0.9548	4	.	.	.	-14.5377	4.9111	0.13821	0.1676:0.6546:0.0:0.1777	.	.	.	.	F	153	.	.	C	-	2	0	RETSAT	85426634	0.999000	0.42202	0.227000	0.23927	0.128000	0.20619	0.670000	0.25157	0.238000	0.21222	0.467000	0.42956	TGC		0.587	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		A	85573123	C	A	85573123	2	1	13	1	0	0	0	0	0	0	0	1	13238	697	25	5		5	RETSAT	2	85573123	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10	10838940	85573123	157626250	13	923											
TUBA3D	113457	mdanderson.org	37	chr2	132240363	132240363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagctctagagaaggattAtgaagaggtgggcgtggatt	11	9	17	4	1	1	3	0	1	1	2	1	6	1	5	0	5	1	2	0	5	4	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:132240363A>G	ENST00000321253.6	+	5	1402	c.1295A>G	c.(1294-1296)tAt>tGt	p.Y432C	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	432					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GAGAAGGATTATGAAGAGGTG	0.602																																					Ovarian(137;2059 2432 35543 39401)	.											0													142	144	143					2																	132240363		2203	4300	6503	SO:0001583	missense	113457			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1295A>G	2.37:g.132240363A>G	ENSP00000326042:p.Tyr432Cys		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	8.730	0.916383	0.17907	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.94497	-3.44	2.41	2.41	0.29592	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.43416	U	0.000561	D	0.98185	0.9400	H	0.99435	4.565	0.47621	D	0.999475	D	0.71674	0.998	D	0.79784	0.993	D	0.96794	0.9584	10	0.72032	D	0.01	.	8.339	0.32232	1.0:0.0:0.0:0.0	.	432	Q13748	TBA3C_HUMAN	C	432;400	ENSP00000326042:Y432C	ENSP00000326042:Y432C	Y	+	2	0	TUBA3D	131956833	1.000000	0.71417	0.986000	0.45419	0.199000	0.23934	5.545000	0.67237	1.095000	0.41419	0.163000	0.16589	TAT		0.602	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		G	132240363	A	G	132240363	3	3	13	1	0	0	0	0	1	0	0	0	16744	449	16	4	1313	4	TUBA3D	2	132240363	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	46667240	132240363	110959010	14	924											
TTN	7273	mdanderson.org;bcgsc.ca	37	chr2	179403401	179403401	+	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	tgaattgcttgtccttaataCgttccttattgctcttcttc	6	20	5	10	1	2	1	0	1	2	0	5	1	4	1	2	0	3	3	2	0	4	9	rs72648276		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:179403401C>T	ENST00000591111.1	-	304	94456	c.94232G>A	c.(94231-94233)cGt>cAt	p.R31411H	TTN_ENST00000460472.2_Missense_Mutation_p.R23987H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24112H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33052H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588257.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24179H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30484H|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31411	Fibronectin type-III 129. {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)			GTCCTTAATACGTTCCTTATT	0.443																																						.											0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3873		0,1,1936	255	249	251		71960,91451,72335,72536	5.9	1	2	dbSNP_130	251	0,8260		0,0,4130	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6066	TT,TC,CC		0.0,0.0258,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	23987/26927,30484/33424,24112/27052,24179/27119	179403401	1,12133	1937	4130	6067	SO:0001583	missense	7273			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.94232G>A	2.37:g.179403401C>T	ENSP00000465570:p.Arg31411His		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	19.57	3.852156	0.71719	2.58E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67268	0.2875	L	0.33792	1.035	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.966;0.966;0.966;0.966	T	0.68372	-0.5426	9	0.87932	D	0	.	16.8289	0.85939	0.129:0.871:0.0:0.0	.	23987;24112;24179;31411	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30484;23987;24179;24112;23984	ENSP00000343764:R30484H;ENSP00000434586:R23987H;ENSP00000340554:R24179H;ENSP00000352154:R24112H	ENSP00000340554:R24179H	R	-	2	0	TTN	179111647	1.000000	0.71417	0.990000	0.47175	0.902000	0.53008	6.037000	0.70956	2.941000	0.99782	0.655000	0.94253	CGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179403401	C	T	179403401	3	4	13	1	0	0	0	0	1	0	0	0	16732	536	19	1	8860	1	TTN	2	179403401	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	47163038	179403401	63795972	15	925											
STK11IP	114790	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr2	220473923	220473923	+	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	gtgctggagcctgatgcccaCgcagctgtccaggtgatggc	6	8	15	12	1	0	2	0	2	0	0	1	3	1	3	3	3	4	3	3	3	0	0	rs185836682	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:220473923C>T	ENST00000456909.1	+	16	2004	c.1914C>T	c.(1912-1914)caC>caT	p.H638H	STK11IP_ENST00000295641.10_Silent_p.H649H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	649					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)		CTGATGCCCACGCAGCTGTCC	0.652													C|||	5	0.000998403	0	0	5008	,	,		17182	0		0	False		,,,				2504	0.0051					.											0													27	27	27					2																	220473923		2032	4181	6213	SO:0001819	synonymous_variant	114790			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.1914C>T	2.37:g.220473923C>T			Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37																																																																																					0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220473923	C	T	220473923	2	4	13	1	0	0	0	0	0	0	0	1	15287	535	19	1		1	STK11IP	2	220473923	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10	41070522	220473923	22725450	16	926											
PRR21	643905	mdanderson.org	37	chr2	240982219	240982219	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgggtgaagagccgtggAtgaagggccgtgggtgaaga	11	6	19	5	2	0	5	0	3	0	2	0	6	0	6	2	4	1	0	2	4	3	0	rs74006013		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:240982219A>G	ENST00000408934.1	-	1	180	c.181T>C	c.(181-183)Tcc>Ccc	p.S61P		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	61	Pro-rich.									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						AGAGCCGTGGATGAAGGGCCG	0.607																																						.											0													130	115	120					2																	240982219		2203	4300	6503	SO:0001583	missense	643905			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.181T>C	2.37:g.240982219A>G	ENSP00000386166:p.Ser61Pro			Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	N	6.168	0.399216	0.11696	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.26223	1.75;1.75	1.5	-2.16	0.07080	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.17722	0.019	T	0.25293	-1.0136	9	0.54805	T	0.06	.	2.7666	0.05322	0.3479:0.0:0.4377:0.2145	.	61	Q8WXC7	PRR21_HUMAN	P	61	ENSP00000386166:S61P;ENSP00000418240:S61P	ENSP00000386166:S61P	S	-	1	0	PRR21	240630892	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.540000	0.00437	-0.607000	0.05738	-0.484000	0.04775	TCC		0.607	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982219	A	G	240982219	3	3	13	1	0	0	0	0	1	0	0	0	12592	333	12	4	991	4	PRR21	2	240982219	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	20508296	240982219	2217154	17	927											
HDLBP	3069	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	242178175	242178175	+	Missense_Mutation	SNP	T	T	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	tcgatggaatttctggggtaTagcacattctaatgtcacct	10	14	9	8	1	3	0	1	0	2	0	4	2	3	1	1	3	1	2	1	3	4	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:242178175T>C	ENST00000391975.1	-	20	2865	c.2638A>G	c.(2638-2640)Ata>Gta	p.I880V	HDLBP_ENST00000391976.2_Missense_Mutation_p.I880V|HDLBP_ENST00000310931.4_Missense_Mutation_p.I880V|HDLBP_ENST00000427183.2_Missense_Mutation_p.I847V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	880	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTCTGGGGTATAGCACATTCT	0.423																																						.											0													206	225	219					2																	242178175		2203	4300	6503	SO:0001583	missense	3069				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.2638A>G	2.37:g.242178175T>C	ENSP00000375836:p.Ile880Val		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.96|16.96	3.265395|3.265395	0.59431|0.59431	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69|.	6.05|6.05	6.05|6.05	0.98169|0.98169	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.64080|0.64080	1.96|1.96	0.80722|0.80722	D|D	1|1	B;B|.	0.31769|.	0.086;0.339|.	B;B|.	0.42916|.	0.402;0.206|.	T|T	0.71097|0.71097	-0.4691|-0.4691	10|5	0.18276|.	T|.	0.48|.	-15.2285|-15.2285	16.6|16.6	0.84812|0.84812	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	847;880|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	V|C	880;880;880;847|688	ENSP00000375836:I880V;ENSP00000375837:I880V;ENSP00000312042:I880V;ENSP00000399139:I847V|.	ENSP00000312042:I880V|.	I|Y	-|-	1|2	0|0	HDLBP|HDLBP	241826848|241826848	1.000000|1.000000	0.71417|0.71417	0.090000|0.090000	0.20809|0.20809	0.994000|0.994000	0.84299|0.84299	7.955000|7.955000	0.87856|0.87856	2.323000|2.323000	0.78572|0.78572	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.423	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		C	242178175	T	C	242178175	3	2	13	1	0	0	0	0	1	0	0	0	7025	1406	49	4	1204	4	HDLBP	2	242178175	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	1195956	242178175	1021198	18	928											
ARPP21	10777	mdanderson.org;bcgsc.ca	37	chr3	35833882	35833882	+	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	ttttcttcgcaggttaccagCcagtcttgtctggtcaacag	7	14	9	11	1	4	0	1	0	3	0	5	0	4	0	2	2	3	2	2	2	2	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:35833882C>A	ENST00000187397.4	+	19	2497	c.2041C>A	c.(2041-2043)Cca>Aca	p.P681T	ARPP21_ENST00000444190.1_Missense_Mutation_p.P662T|ARPP21_ENST00000337271.5_Missense_Mutation_p.P662T|ARPP21_ENST00000458225.1_Missense_Mutation_p.P682T|ARPP21_ENST00000417925.1_Missense_Mutation_p.P682T|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	681	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						AGGTTACCAGCCAGTCTTGTC	0.468																																						.											0													162	170	167					3																	35833882		2203	4300	6503	SO:0001583	missense	10777			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.2041C>A	3.37:g.35833882C>A	ENSP00000187397:p.Pro681Thr		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293133	0.23564	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.71	3.92	0.45320	.	0.135690	0.50627	D	0.000118	T	0.55784	0.1942	L	0.60455	1.87	0.40003	D	0.975197	D;D;P;D	0.65815	0.995;0.957;0.819;0.995	D;P;B;D	0.68483	0.958;0.756;0.412;0.958	T	0.54430	-0.8295	10	0.20046	T	0.44	-4.9886	5.9087	0.19016	0.2736:0.5865:0.0:0.1399	.	682;204;681;662	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	T	682;662;662;681;682	ENSP00000414351:P682T;ENSP00000337792:P662T;ENSP00000405276:P662T;ENSP00000187397:P681T;ENSP00000412326:P682T	ENSP00000187397:P681T	P	+	1	0	ARPP21	35808886	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.915000	0.28638	0.755000	0.32990	0.655000	0.94253	CCA		0.468	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		A	35833882	C	A	35833882	3	1	13	1	0	0	0	0	1	0	0	0	978	739	26	5	2120	5	ARPP21	3	35833882	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10		35833882	162188548	19	929											
PXK	54899	broad.mit.edu	37	chr3	58395318	58395318	+	Frame_Shift_Del	DEL	A	A	-																															catggatctgaggaggaaagAaaaaaaagaaagattttagc																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:58395318delA	ENST00000356151.2	+	15	1477	c.1368delA	c.(1366-1368)agafs	p.R456fs	PXK_ENST00000536660.1_Frame_Shift_Del_p.R319fs|PXK_ENST00000484288.1_Frame_Shift_Del_p.R456fs|PXK_ENST00000383715.4_Frame_Shift_Del_p.R439fs|PXK_ENST00000463280.1_Frame_Shift_Del_p.R423fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.R423fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.R439fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.R439fs	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGGAGGAAAGAAAAAAAAGAA	0.418																																						.											0													50	50	50					3																	58395318		2202	4300	6502	SO:0001589	frameshift_variant	54899			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1368delA	3.37:g.58395318delA	ENSP00000348472:p.Arg456fs			Frame_Shift_Del	DEL	ENST00000356151.2	37	CCDS2889.1																																																																																				0.418	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		-	58395318	A	-	58395318	7	5	13	1	0	1	0	1	0	0	0	0	12849	243	9	0	1426	0	PXK	3	58395318	Frame_Shift_Del	DEL	A	TCGA-KL-8335-01A-11D-2310-10	22561436	58395318	139627112	20	930											
NFKBIZ	64332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	101573954	101573954	+	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	atcagcatctcattgtgcagGatctggtgaacatcggggca	10	10	12	9	1	3	1	2	1	2	0	5	2	3	2	0	4	3	3	0	4	1	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:101573954G>T	ENST00000326172.5	+	7	1607	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.D398Y|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.D376Y	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	498	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						CATTGTGCAGGATCTGGTGAA	0.488																																						.											0													80	81	81					3																	101573954		2203	4300	6503	SO:0001583	missense	64332			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.1492G>T	3.37:g.101573954G>T	ENSP00000325663:p.Asp498Tyr		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924473	0.52653	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	N	0.01729	-0.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.53913	-0.8371	10	0.02654	T	1	-14.7808	19.922	0.97089	0.0:0.0:1.0:0.0	.	376;498	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	Y	398;398;376;498	ENSP00000419800:D398Y;ENSP00000377618:D398Y;ENSP00000325593:D376Y;ENSP00000325663:D498Y	ENSP00000325593:D376Y	D	+	1	0	NFKBIZ	103056644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.399000	0.97285	2.780000	0.95670	0.655000	0.94253	GAT		0.488	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		T	101573954	G	T	101573954	3	4	13	1	0	0	0	0	1	0	0	0	10383	1174	41	5	1518	5	NFKBIZ	3	101573954	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	43178636	101573954	96448476	21	931											
KIAA2018	205717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	113375944	113375944	+	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	ctgagaggtctgggtgccctGaacaagattcctctttttct	7	14	10	10	0	3	3	0	2	3	2	4	4	4	3	2	2	2	0	2	2	2	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:113375944G>C	ENST00000478658.1	-	5	4602	c.4585C>G	c.(4585-4587)Cag>Gag	p.Q1529E	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q1529E			Q68DE3	K2018_HUMAN	KIAA2018	1529	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						TGGGTGCCCTGAACAAGATTC	0.517																																						.											0													111	111	111					3																	113375944		2016	4187	6203	SO:0001583	missense	205717			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.4585C>G	3.37:g.113375944G>C	ENSP00000420721:p.Gln1529Glu		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358247	0.61403	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.30981	1.51;1.51	5.91	5.01	0.66863	.	0.343150	0.31404	N	0.007717	T	0.23330	0.0564	L	0.27053	0.805	0.25898	N	0.983394	B	0.29716	0.255	B	0.21917	0.037	T	0.08106	-1.0738	10	0.38643	T	0.18	-2.0295	16.7864	0.85575	0.0:0.1291:0.8709:0.0	.	1529	Q68DE3	K2018_HUMAN	E	1529	ENSP00000320794:Q1529E;ENSP00000420721:Q1529E	ENSP00000320794:Q1529E	Q	-	1	0	KIAA2018	114858634	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.031000	0.76491	1.444000	0.47605	0.655000	0.94253	CAG		0.517	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		C	113375944	G	C	113375944	3	2	13	1	0	0	0	0	1	0	0	0	8268	1299	45	5	2156	5	KIAA2018	3	113375944	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	11801990	113375944	84646486	22	932											
DRD5	1816	mdanderson.org	37	chr4	9784542	9784542	+	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	aggagaccaaggttctcaagAccctgtcggtgatcatgggg	10	8	14	9	1	2	3	2	1	1	2	4	4	2	3	2	5	0	1	2	5	2	1	rs2227851		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:9784542A>C	ENST00000304374.2	+	1	1285	c.889A>C	c.(889-891)Acc>Ccc	p.T297P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	297			T -> P (in dbSNP:rs2227851).		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)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGTTCTCAAGACCCTGTCGGT	0.632																																						.											0													54	51	52					4																	9784542		2202	4297	6499	SO:0001583	missense	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.889A>C	4.37:g.9784542A>C	ENSP00000306129:p.Thr297Pro		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	19.24	3.788678	0.70337	.	.	ENSG00000169676	ENST00000304374	T	0.40225	1.04	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	H	0.99668	4.69	0.09310	P	0.999999880898	D	0.89917	1.0	D	0.97110	1.0	D	0.89804	0.3977	9	0.87932	D	0	.	13.5854	0.61928	1.0:0.0:0.0:0.0	rs2227851	297	P21918	DRD5_HUMAN	P	297	ENSP00000306129:T297P	ENSP00000306129:T297P	T	+	1	0	DRD5	9393640	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	8.711000	0.91396	1.990000	0.58119	0.377000	0.23210	ACC		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			C	9784542	A	C	9784542	3	2	13	1	0	0	0	0	1	0	0	0	4760	275	10	5	891	5	DRD5	4	9784542	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10		9784542	181369734	23	933											
ANAPC4	29945	broad.mit.edu;mdanderson.org	37	chr4	25415322	25415322	+	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	tcattgcattttgtgaaaagGcggatggagaatattattga	13	14	11	3	1	1	3	1	2	0	1	1	5	1	4	0	3	1	1	0	3	5	6			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:25415322G>A	ENST00000315368.3	+	22	1723	c.1581G>A	c.(1579-1581)agG>agA	p.R527R	ANAPC4_ENST00000510092.1_Silent_p.R528R	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	527					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)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTGTGAAAAGGCGGATGGAGA	0.353																																						.											0													118	116	117					4																	25415322		2203	4300	6503	SO:0001819	synonymous_variant	29945			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1581G>A	4.37:g.25415322G>A			A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	CCDS3434.1																																																																																				0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		A	25415322	G	A	25415322	2	1	13	1	0	0	0	0	0	0	0	1	604	1194	42	3		3	ANAPC4	4	25415322	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	15630780	25415322	165738954	24	934											
DSPP	1834	broad.mit.edu	37	chr4	88536147	88536155	+	In_Frame_Del	DEL	ACAGCAGCA	ACAGCAGCA	-																															tgacagcagtgatagtagtgAcagcagcaacagcagtgata																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	ACAGCAGCA	ACAGCAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:88536147_88536155delACAGCAGCA	ENST00000282478.7	+	4	2366_2374	c.2333_2341delACAGCAGCA	c.(2332-2343)gacagcagcaac>gac	p.SSN779del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.SSN779del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	779	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)		gatagtagtgacagcagcaacagcagtga	0.502																																						.											0																																										SO:0001651	inframe_deletion	1834			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.2333_2341delACAGCAGCA	4.37:g.88536147_88536155delACAGCAGCA	ENSP00000282478:p.Ser779_Asn781del		A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																				0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88536155	ACAGCAGCA	-	88536147	7	5	13	1	0	1	0	1	0	0	0	0	4782	275	10	0	2347	0	DSPP	4	88536147	In_Frame_Del	DEL	ACAGCAGCA	TCGA-KL-8335-01A-11D-2310-10	63120825	88536147	102618129	25	935											
ADH1B	125	broad.mit.edu;mdanderson.org	37	chr4	100234996	100234996	+	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	accatggtgtcaagccgaccGatgacttcaaacgaaaaatc	15	7	8	11	3	2	1	2	1	0	0	3	4	2	1	3	1	2	0	3	1	4	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:100234996G>A	ENST00000305046.8	-	6	877	c.810C>T	c.(808-810)atC>atT	p.I270I	ADH1B_ENST00000394887.3_Silent_p.I230I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	270					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)	CAAGCCGACCGATGACTTCAA	0.438																																						.											0													210	211	210					4																	100234996		2203	4300	6503	SO:0001819	synonymous_variant	125			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.810C>T	4.37:g.100234996G>A			A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																				0.438	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		A	100234996	G	A	100234996	2	1	13	1	0	0	0	0	0	0	0	1	308	1048	37	1		1	ADH1B	4	100234996	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	11698849	100234996	90919280	26	936											
CENPE	1062	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	104101509	104101509	+	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	gagggaagaagaggtcaccaGcatccgtgttaagttttcaa	13	9	12	7	1	2	2	2	0	0	2	3	4	3	3	2	2	1	3	2	2	4	3	rs528315425		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:104101509G>C	ENST00000265148.3	-	13	1290	c.1201C>G	c.(1201-1203)Ctg>Gtg	p.L401V	CENPE_ENST00000509120.1_5'UTR|CENPE_ENST00000380026.3_Missense_Mutation_p.L401V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	401					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)		GAGGTCACCAGCATCCGTGTT	0.368																																						.											0													128	131	130					4																	104101509		2203	4300	6503	SO:0001583	missense	1062			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.1201C>G	4.37:g.104101509G>C	ENSP00000265148:p.Leu401Val		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532371	0.45073	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.56941	0.43;0.43;0.43	5.23	3.47	0.39725	.	.	.	.	.	T	0.52933	0.1765	N	0.17248	0.465	0.36330	D	0.858786	D;P	0.89917	1.0;0.615	D;B	0.85130	0.997;0.219	T	0.57969	-0.7719	9	0.36615	T	0.2	.	9.7801	0.40643	0.2228:0.0:0.7772:0.0	.	401;401	Q02224-3;Q02224	.;CENPE_HUMAN	V	401	ENSP00000265148:L401V;ENSP00000369365:L401V;ENSP00000423981:L401V	ENSP00000265148:L401V	L	-	1	2	CENPE	104320958	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.467000	0.45093	1.336000	0.45506	0.563000	0.77884	CTG		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104101509	G	C	104101509	3	2	13	1	0	0	0	0	1	0	0	0	3230	962	34	5	7052	5	CENPE	4	104101509	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	3866513	104101509	87052767	27	937											
KIAA0947	23379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	5489408	5489408	+	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	cgattgtcagctgcctagagGaagtcagtgccctgagcaca	10	8	12	11	1	2	2	2	1	0	1	2	4	2	3	2	1	4	2	2	1	2	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:5489408G>T	ENST00000296564.7	+	19	6988	c.6766G>T	c.(6766-6768)Gaa>Taa	p.E2256*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2256					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						CTGCCTAGAGGAAGTCAGTGC	0.522																																						.											0													43	46	45					5																	5489408		2065	4204	6269	SO:0001587	stop_gained	23379																														ENST00000296564.7:c.6766G>T	5.37:g.5489408G>T	ENSP00000296564:p.Glu2256*		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	46	12.447786	0.99668	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.48087	D	0.999588	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.4235	15.3318	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	X	2256	.	ENSP00000296564:E2256X	E	+	1	0	KIAA0947	5542408	0.998000	0.40836	0.774000	0.31636	0.012000	0.07955	3.987000	0.56944	2.763000	0.94921	0.650000	0.86243	GAA		0.522	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5489408	G	T	5489408	4	4	13	1	0	0	0	0	0	1	0	0	8202	1175	41	5	6840	5	KIAA0947	5	5489408	Nonsense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		5489408	175425852	28	938											
DIMT1L	27292	broad.mit.edu;hgsc.bcm.edu	37	chr5	61699551	61699570	+	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	-																															cttcagctcccggcgctgctCctgccgcccgcggcggcggc																								rs367686764		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:61699551_61699570delCCTGCCGCCCGCGGCGGCGG	ENST00000199320.4	-	1	190_209	c.30_49delCCGCCGCCGCGGGCGGCAGG	c.(28-51)ggccgccgccgcgggcggcaggagfs	p.RRRGRQE11fs	DIMT1_ENST00000506390.1_Frame_Shift_Del_p.RRRGRQE11fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	11						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										CGGCGCTGCTCCTGCCGCCCGCGGCGGCGGCCGATGGCCC	0.705																																						.											0																																										SO:0001589	frameshift_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.30_49delCCGCCGCCGCGGGCGGCAGG	5.37:g.61699551_61699570delCCTGCCGCCCGCGGCGGCGG	ENSP00000199320:p.Arg11fs		O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	CCDS3981.1																																																																																				0.705	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		-	61699570	CCTGCCGCCCGCGGCGGCGG	-	61699551	7	5	13	1	0	1	0	1	0	0	0	0	4523	864	30	0	940	0	DIMT1L	5	61699551	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	TCGA-KL-8335-01A-11D-2310-10	56210143	61699551	119215709	29	939	28	2									
DIMT1L	27292	bcgsc.ca	37	chr5	61699552	61699571	+	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	-																															ttcagctcccggcgctgctcCtgccgcccgcggcggcggcc																								rs367686764		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:61699552_61699571delCCTGCCGCCCGCGGCGGCGG	ENST00000199320.4	-	1	189_208	c.29_48delCCGCCGCCGCGGGCGGCAGG	c.(28-48)gccgccgccgcgggcggcaggfs	p.AAAAGGR10fs	DIMT1_ENST00000506390.1_Frame_Shift_Del_p.AAAAGGR10fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	10						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GGCGCTGCTCCTGCCGCCCGCGGCGGCGGCCGATGGCCCC	0.705																																						.											0																																										SO:0001589	frameshift_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.29_48delCCGCCGCCGCGGGCGGCAGG	5.37:g.61699552_61699571delCCTGCCGCCCGCGGCGGCGG	ENSP00000199320:p.Ala10fs		O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	CCDS3981.1																																																																																				0.705	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		-	61699571	CCTGCCGCCCGCGGCGGCGG	-	61699552	7	5	13	1	0	1	0	1	0	0	0	0	4523	680	24	0	941	0	DIMT1L	5	61699552	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	TCGA-KL-8335-01A-11D-2310-10	1	61699552	119215708	30	940	28	2									
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	145598649	145598649	+	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	cttttgtgctgatcaacttgAtgtctttttacaaaaaggta	11	17	7	6	0	2	2	1	2	1	0	2	2	2	2	0	1	3	2	0	1	5	7			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:145598649A>T	ENST00000265271.5	+	2	327	c.161A>T	c.(160-162)gAt>gTt	p.D54V	RBM27_ENST00000506502.1_Missense_Mutation_p.D54V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	54					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCAACTTGATGTCTTTTTA	0.353																																						.											0													151	141	144					5																	145598649		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.161A>T	5.37:g.145598649A>T	ENSP00000265271:p.Asp54Val		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534735	0.85812	.	.	ENSG00000091009	ENST00000265271	T	0.41758	0.99	5.69	5.69	0.88448	Splicing factor PWI (2);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.484	D;P	0.75484	0.986;0.72	T	0.63143	-0.6703	10	0.45353	T	0.12	-18.5905	15.956	0.79889	1.0:0.0:0.0:0.0	.	54;54	Q9P2N5;B3KY61	RBM27_HUMAN;.	V	54	ENSP00000265271:D54V	ENSP00000265271:D54V	D	+	2	0	RBM27	145578842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.292000	0.96076	2.167000	0.68274	0.533000	0.62120	GAT		0.353	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		T	145598649	A	T	145598649	3	4	13	1	0	0	0	0	1	0	0	0	13127	333	12	5	167	5	RBM27	5	145598649	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	83899097	145598649	35316611	31	941											
C6orf201	404220	bcgsc.ca	37	chr6	4087901	4087901	+	Missense_Mutation	SNP	T	T	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	gtctaacctccacgagctgcTtccgaatcacctgatggaga	10	9	9	13	2	2	2	1	1	1	1	4	5	4	2	4	1	3	2	4	1	2	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:4087901T>C	ENST00000380175.4	+	2	791	c.26T>C	c.(25-27)cTt>cCt	p.L9P	C6orf201_ENST00000430835.2_Missense_Mutation_p.L9P|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Intron|FAM217A_ENST00000380188.2_5'Flank	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	9										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CACGAGCTGCTTCCGAATCAC	0.488																																						.											0													212	224	221					6																	4087901		1920	4148	6068	SO:0001583	missense	404220			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.26T>C	6.37:g.4087901T>C	ENSP00000420610:p.Leu9Pro		A6NLI6|Q6NXN5	Missense_Mutation	SNP	ENST00000380175.4	37	CCDS43419.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.391047	0.42410	.	.	ENSG00000185689	ENST00000541127;ENST00000380175;ENST00000451679;ENST00000436110;ENST00000430835	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.28	4.28	0.50868	.	0.203527	0.24737	N	0.036011	T	0.34658	0.0905	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.28396	-1.0045	10	0.87932	D	0	.	9.9695	0.41745	0.0:0.0:0.0:1.0	.	9;9	B4DXB2;Q7Z4U5	.;CF201_HUMAN	P	9	ENSP00000420610:L9P;ENSP00000420763:L9P;ENSP00000417981:L9P;ENSP00000396912:L9P	ENSP00000420610:L9P	L	+	2	0	C6orf201	4032900	0.994000	0.37717	0.993000	0.49108	0.189000	0.23516	3.100000	0.50275	1.927000	0.55829	0.460000	0.39030	CTT		0.488	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000314019.2	NM_001085401		C	4087901	T	C	4087901	3	2	13	1	0	0	0	0	1	0	0	0	2351	1609	56	2	28	2	C6orf201	6	4087901	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10		4087901	167027166	32	942											
NOTCH4	4855	hgsc.bcm.edu	37	chr6	32168996	32168996	+	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	ctcctagcttttcttcagccCgggccccaggataggggtac	6	10	11	14	1	2	0	1	0	1	0	3	1	3	1	4	4	3	2	4	4	3	6	rs8192573	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:32168996C>T	ENST00000375023.3	-	22	4175	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1346			R -> P (in dbSNP:rs8192573).		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						TTCTTCAGCCCGGGCCCCAGG	0.617																																						.											0													58	67	64					6																	32168996		1508	2707	4215	SO:0001583	missense	4855				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.4037G>A	6.37:g.32168996C>T	ENSP00000364163:p.Arg1346Gln		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397977	0.25205	.	.	ENSG00000204301	ENST00000375023	T	0.80824	-1.42	4.37	1.09	0.20402	.	0.581966	0.13081	N	0.415340	T	0.35098	0.0920	N	0.03608	-0.345	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.17979	0.02;0.0	T	0.08534	-1.0717	10	0.25106	T	0.35	.	5.443	0.16519	0.0:0.4431:0.0:0.5569	.	1346;1345	Q99466;B0S882	NOTC4_HUMAN;.	Q	1346	ENSP00000364163:R1346Q	ENSP00000364163:R1346Q	R	-	2	0	NOTCH4	32276974	0.999000	0.42202	0.990000	0.47175	0.931000	0.56810	1.224000	0.32539	0.052000	0.16007	0.456000	0.33151	CGG		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32168996	C	T	32168996	3	4	13	1	0	0	0	0	1	0	0	0	10551	652	23	1	2010	1	NOTCH4	6	32168996	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	28081095	32168996	138946071	33	943											
TDRD6	221400	broad.mit.edu	37	chr6	46661608	46661608	+	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	aactacctacagcccagctgCctttagatgacaagatggat	13	9	8	11	0	0	3	0	1	0	2	0	4	0	4	3	1	6	1	3	1	5	4			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:46661608C>T	ENST00000316081.6	+	1	5743	c.5743C>T	c.(5743-5745)Cct>Tct	p.P1915S	TDRD6_ENST00000544460.1_Missense_Mutation_p.P1915S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1915					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)			AGCCCAGCTGCCTTTAGATGA	0.458																																						.											0													103	100	101					6																	46661608		2203	4300	6503	SO:0001583	missense	221400			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.5743C>T	6.37:g.46661608C>T	ENSP00000346065:p.Pro1915Ser		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246071	0.01481	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11169	2.8;2.8	5.57	3.23	0.37069	.	0.486738	0.19330	N	0.116913	T	0.01189	0.0039	N	0.11560	0.145	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.47649	-0.9101	10	0.07325	T	0.83	-16.1441	7.0121	0.24867	0.0:0.1857:0.0:0.8143	.	1915;1915	F5H5M3;O60522	.;TDRD6_HUMAN	S	1915	ENSP00000443299:P1915S;ENSP00000346065:P1915S	ENSP00000346065:P1915S	P	+	1	0	TDRD6	46769567	0.000000	0.05858	0.028000	0.17463	0.007000	0.05969	0.378000	0.20569	0.947000	0.37659	-0.471000	0.05019	CCT		0.458	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46661608	C	T	46661608	3	4	13	1	0	0	0	0	1	0	0	0	15731	739	26	3	5745	3	TDRD6	6	46661608	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	14492612	46661608	124453459	34	944											
AMD1	262	hgsc.bcm.edu	37	chr6	111214753	111214753	+	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	cgtcttgattgccagagtgcTatgttcaatgattacaattt	10	16	8	7	1	2	3	1	2	1	1	2	3	2	3	1	0	3	2	1	0	4	6			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:111214753T>C	ENST00000368885.3	+	9	1275	c.939T>C	c.(937-939)gcT>gcC	p.A313A	AMD1_ENST00000368882.3_Silent_p.A165A|AMD1_ENST00000368876.1_Silent_p.A244A|AMD1_ENST00000451850.2_Silent_p.A193A|AMD1_ENST00000368877.5_Silent_p.A284A	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	313					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GCCAGAGTGCTATGTTCAATG	0.368																																						.											0													98	89	92					6																	111214753		2203	4298	6501	SO:0001819	synonymous_variant	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.939T>C	6.37:g.111214753T>C			E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Silent	SNP	ENST00000368885.3	37	CCDS5086.1																																																																																				0.368	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			C	111214753	T	C	111214753	2	2	13	1	0	0	0	0	0	0	0	1	566	1509	53	2		2	AMD1	6	111214753	Silent	SNP	T	TCGA-KL-8335-01A-11D-2310-10	64553145	111214753	59900314	35	945											
FAM184A	79632	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	119345242	119345242	+	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	ttaattttcctatagtttttCgtaaaattgcttcttgtccc	8	21	4	8	1	1	0	0	0	1	0	4	0	3	0	2	0	1	3	2	0	5	11			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:119345242C>T	ENST00000338891.7	-	2	1339	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	FAM184A_ENST00000352896.5_Missense_Mutation_p.R179Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.R179Q|FAM184A_ENST00000368475.4_Missense_Mutation_p.R179Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.R299Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	299						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TATAGTTTTTCGTAAAATTGC	0.393																																						.											0													113	108	109					6																	119345242		1819	4076	5895	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.896G>A	6.37:g.119345242C>T	ENSP00000342604:p.Arg299Gln		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	0.155	-1.087649	0.01873	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00309	8.16;8.16;8.16;8.16;8.16	5.04	5.04	0.67666	.	0.153338	0.46145	D	0.000307	T	0.00039	0.0001	N	0.05574	-0.02	0.44595	D	0.997567	B;B;B	0.33120	0.341;0.196;0.398	B;B;B	0.25140	0.043;0.031;0.058	T	0.05451	-1.0884	10	0.02654	T	1	-4.3682	12.1631	0.54115	0.0:0.9206:0.0:0.0794	.	299;179;299	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	299;179;179;299;179	ENSP00000342604:R299Q;ENSP00000326608:R179Q;ENSP00000357460:R179Q;ENSP00000430442:R299Q;ENSP00000429826:R179Q	ENSP00000342604:R299Q	R	-	2	0	FAM184A	119386941	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.303000	0.65738	2.506000	0.84524	0.460000	0.39030	CGA		0.393	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		T	119345242	C	T	119345242	3	4	13	1	0	0	0	0	1	0	0	0	5511	884	31	1	2594	1	FAM184A	6	119345242	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	8130489	119345242	51769825	36	946											
ABCB5	340273	broad.mit.edu;bcgsc.ca	37	chr7	20698214	20698214	+	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	aattgctcgtgccttagttcGaaaccccaagattctgattt	10	14	7	10	2	1	2	0	1	1	1	3	3	1	2	3	0	3	2	3	0	4	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:20698214G>A	ENST00000404938.2	+	14	2274	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ABCB5_ENST00000406935.1_Missense_Mutation_p.R96Q|ABCB5_ENST00000258738.6_Missense_Mutation_p.R96Q|ABCB5_ENST00000443026.2_Missense_Mutation_p.R96Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	541	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCCTTAGTTCGAAACCCCAAG	0.438																																						.											0													129	112	118					7																	20698214		2203	4300	6503	SO:0001583	missense	340273			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.1622G>A	7.37:g.20698214G>A	ENSP00000384881:p.Arg541Gln		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774322	0.90108	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	D;D;D;D	0.93763	-1.87;-3.28;-3.28;-1.87	5.77	4.67	0.58626	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.142496	0.30510	N	0.009471	D	0.95655	0.8587	M	0.68728	2.09	0.37951	D	0.932664	D;D;D;D	0.89917	0.996;1.0;0.998;1.0	P;D;D;D	0.91635	0.784;0.999;0.991;0.977	D	0.96024	0.9011	10	0.87932	D	0	.	12.5046	0.55973	0.1116:0.0:0.8884:0.0	.	96;541;96;96	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	Q	541;96;96;96	ENSP00000384881:R541Q;ENSP00000406730:R96Q;ENSP00000383899:R96Q;ENSP00000258738:R96Q	ENSP00000258738:R96Q	R	+	2	0	ABCB5	20664739	0.995000	0.38212	1.000000	0.80357	0.975000	0.68041	3.264000	0.51553	2.890000	0.99128	0.650000	0.86243	CGA		0.438	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20698214	G	A	20698214	3	1	13	1	0	0	0	0	1	0	0	0	44	1058	37	1	1672	1	ABCB5	7	20698214	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		20698214	138440449	37	947											
DPY19L1	23333	mdanderson.org	37	chr7	34987258	34987258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacctttctaacaatagcaAcaaacactacaagaacaact	20	8	2	11	0	1	1	0	0	1	1	1	1	1	1	1	0	8	1	1	0	10	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:34987258A>G	ENST00000310974.4	-	15	1403	c.1259T>C	c.(1258-1260)gTt>gCt	p.V420A		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	420						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AACAATAGCAACAAACACTAC	0.318																																						.											0													69	73	72					7																	34987258		2164	4285	6449	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1259T>C	7.37:g.34987258A>G	ENSP00000308695:p.Val420Ala		O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	7.168	0.587071	0.13812	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.57107	0.42;0.42	5.28	1.1	0.20463	.	0.811526	0.11732	N	0.534848	T	0.18215	0.0437	N	0.01352	-0.895	0.21861	N	0.9995	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.09843	T	0.71	-2.32	5.0712	0.14608	0.4821:0.1582:0.3597:0.0	.	420	Q2PZI1	D19L1_HUMAN	A	420;190	ENSP00000308695:V420A;ENSP00000400510:V190A	ENSP00000308695:V420A	V	-	2	0	DPY19L1	34953783	0.008000	0.16893	0.534000	0.28014	0.963000	0.63663	1.067000	0.30616	0.376000	0.24707	0.383000	0.25322	GTT		0.318	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			G	34987258	A	G	34987258	3	3	13	1	0	0	0	0	1	0	0	0	4740	43	2	2	800	2	DPY19L1	7	34987258	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	14289044	34987258	124151405	38	948											
CALD1	800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	134617794	134617794	+	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	acactcaagtggaaggggatGatgaggccgcattcctggag	11	7	15	8	1	1	2	1	2	0	0	2	5	2	5	2	5	0	1	2	5	2	1	rs542527726		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:134617794G>T	ENST00000361675.2	+	5	503	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	CALD1_ENST00000417172.1_Missense_Mutation_p.D92Y|CALD1_ENST00000422748.1_Missense_Mutation_p.D92Y|CALD1_ENST00000543443.1_Missense_Mutation_p.D97Y|CALD1_ENST00000424922.1_Missense_Mutation_p.D86Y|CALD1_ENST00000393118.2_Missense_Mutation_p.D86Y|CALD1_ENST00000361901.2_Missense_Mutation_p.D92Y|CALD1_ENST00000361388.2_Missense_Mutation_p.D92Y|CALD1_ENST00000495522.1_Missense_Mutation_p.D86Y			Q05682	CALD1_HUMAN	caldesmon 1	92	Myosin and calmodulin-binding. {ECO:0000250}.				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						GGAAGGGGATGATGAGGCCGC	0.542																																						.											0													60	51	54					7																	134617794		2203	4300	6503	SO:0001583	missense	800			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.274G>T	7.37:g.134617794G>T	ENSP00000354826:p.Asp92Tyr		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671451	0.67814	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.38	5.38	0.77491	.	0.275906	0.26237	N	0.025538	T	0.71484	0.3345	M	0.73962	2.25	0.34097	D	0.661391	D;D;D;D;D;D;D;D	0.64830	0.992;0.983;0.979;0.992;0.979;0.979;0.993;0.994	P;P;P;P;P;P;D;D	0.64321	0.873;0.88;0.81;0.873;0.717;0.81;0.924;0.922	T	0.80944	-0.1156	10	0.72032	D	0.01	-14.924	17.3065	0.87196	0.0:0.0:1.0:0.0	.	97;92;86;86;92;92;92;92	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	Y	92;92;92;92;92;92;106;86;86;86;97	ENSP00000398826:D92Y;ENSP00000411476:D92Y;ENSP00000355000:D92Y;ENSP00000395710:D92Y;ENSP00000354826:D92Y;ENSP00000354513:D92Y;ENSP00000390926:D106Y;ENSP00000376826:D86Y;ENSP00000393621:D86Y;ENSP00000419673:D86Y;ENSP00000445641:D97Y	ENSP00000355000:D92Y	D	+	1	0	CALD1	134268334	1.000000	0.71417	0.589000	0.28718	0.891000	0.51852	8.514000	0.90545	2.497000	0.84241	0.557000	0.71058	GAT		0.542	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		T	134617794	G	T	134617794	3	4	13	1	0	0	0	0	1	0	0	0	2581	1290	45	5	341	5	CALD1	7	134617794	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	99630536	134617794	24520869	39	949											
EPHA1	2041	broad.mit.edu;hgsc.bcm.edu	37	chr7	143095693	143095693	+	Splice_Site	DEL	C	C	-																															cagcccctctcagcctctcaCctgcatgccccatgctgatg																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:143095693delC	ENST00000275815.3	-	6	1423		c.e6+1			NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1						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)				CAGCCTCTCACCTGCATGCCC	0.547																																						.											0													45	43	44					7																	143095693		2203	4300	6503	SO:0001630	splice_region_variant	2041			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.1336+1G>-	7.37:g.143095693delC			A1L3V3|B5A966|B5A967|Q15405	Splice_Site	DEL	ENST00000275815.3	37	CCDS5884.1																																																																																				0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		Intron	-	143095693	C	-	143095693	8	5	13	1	0	1	0	1	0	0	1	0	5165	521	18	0	1645	0	EPHA1	7	143095693	Splice_Site	DEL	C	TCGA-KL-8335-01A-11D-2310-10	8477899	143095693	16042970	40	950	29	2									
EPHA1	2041	bcgsc.ca	37	chr7	143095694	143095694	+	Splice_Site	DEL	C	C	-																															agcccctctcagcctctcacCtgcatgccccatgctgatgc																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:143095694delC	ENST00000275815.3	-	6	1422	c.1336delG	c.(1336-1338)gag>ag	p.E446fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	446					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)				AGCCTCTCACCTGCATGCCCC	0.547																																						.											0													46	44	44					7																	143095694		2203	4300	6503	SO:0001630	splice_region_variant	2041			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.1336+1G>-	7.37:g.143095694delC			A1L3V3|B5A966|B5A967|Q15405	Frame_Shift_Del	DEL	ENST00000275815.3	37	CCDS5884.1																																																																																				0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		Frame_Shift_Del	-	143095694	C	-	143095694	8	5	13	1	0	1	0	1	0	0	1	0	5165	695	24	0	1646	0	EPHA1	7	143095694	Splice_Site	DEL	C	TCGA-KL-8335-01A-11D-2310-10	1	143095694	16042969	41	951	29	2									
CLDN23	137075	broad.mit.edu	37	chr8	8560233	8560234	+	Frame_Shift_Ins	INS	-	-	T																															gcgctgctggcaggacgagcINSccaacttcgtgctggcaggg																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:8560233_8560234insT	ENST00000519106.1	+	1	786_787	c.325_326insT	c.(325-327)cccfs	p.P109fs		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	109					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)		GCAGGACGAGCCCAACTTCGTG	0.703																																						.											0																																										SO:0001589	frameshift_variant	137075			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		Exception_encountered	8.37:g.8560233_8560234insT	ENSP00000428780:p.Pro109fs		Q08AJ3	Frame_Shift_Ins	INS	ENST00000519106.1	37	CCDS55195.1																																																																																				0.703	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		T	8560234	-	T	8560233	7	5	13	1	0	1	1	0	0	0	0	0	3484	739	26	0	327	0	CLDN23	8	8560233	Frame_Shift_Ins	INS	-	TCGA-KL-8335-01A-11D-2310-10		8560233	137803789	42	952											
PSD3	23362	broad.mit.edu	37	chr8	18725567	18725567	+	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	tcccccttaacgtgctcctcTtgttcgctgatcctggaaag	6	13	8	14	2	1	1	0	1	1	0	5	2	4	2	4	1	2	3	4	1	2	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:18725567T>C	ENST00000327040.8	-	4	1353	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q	PSD3_ENST00000523619.1_Silent_p.Q352Q|PSD3_ENST00000440756.2_Silent_p.Q417Q	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	417					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGTGCTCCTCTTGTTCGCTGA	0.423																																						.											0													96	97	97					8																	18725567		1983	4154	6137	SO:0001819	synonymous_variant	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1251A>G	8.37:g.18725567T>C			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1																																																																																				0.423	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		C	18725567	T	C	18725567	2	2	13	1	0	0	0	0	0	0	0	1	12648	1606	56	2		2	PSD3	8	18725567	Silent	SNP	T	TCGA-KL-8335-01A-11D-2310-10	10165334	18725567	127638455	43	953											
FBXO16	157574	broad.mit.edu	37	chr8	28309794	28309794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatggggtcacggttgTctaggtaattaaaacgaatg	11	12	11	7	2	3	0	1	0	2	0	4	1	3	0	1	4	1	2	1	4	5	4			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:28309794T>C	ENST00000380254.2	-	6	855	c.707A>G	c.(706-708)gAc>gGc	p.D236G	FBXO16_ENST00000518734.1_Missense_Mutation_p.D224G|FBXO16_ENST00000346498.2_Missense_Mutation_p.D224G|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000517436.1_5'UTR|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	236										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)		GTCACGGTTGTCTAGGTAATT	0.413																																						.											0													92	91	91					8																	28309794		2203	4300	6503	SO:0001583	missense	157574			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.707A>G	8.37:g.28309794T>C	ENSP00000369604:p.Asp236Gly		Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	CCDS6068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.510595|4.510595	0.85389|0.85389	.|.	.|.	ENSG00000214050|ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673|ENST00000518248	T;T;T;T|.	0.59502|.	1.75;1.64;1.72;0.26|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.336197|.	0.25478|.	U|.	0.030394|.	T|T	0.72985|0.72985	0.3529|0.3529	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.995;0.999;0.998|.	P;P;P|.	0.57468|.	0.728;0.821;0.821|.	T|T	0.73313|0.73313	-0.4022|-0.4022	10|5	0.72032|.	D|.	0.01|.	-32.5255|-32.5255	14.4817|14.4817	0.67587|0.67587	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	224;224;236|.	Q3T1B3;Q3T1B2;Q8IX29|.	.;.;FBX16_HUMAN|.	G|A	236;224;224;181|81	ENSP00000369604:D236G;ENSP00000341416:D224G;ENSP00000429687:D224G;ENSP00000429390:D181G|.	ENSP00000341416:D224G|.	D|T	-|-	2|1	0|0	FBXO16|FBXO16	28365713|28365713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	6.794000|6.794000	0.75135|0.75135	2.098000|2.098000	0.63641|0.63641	0.443000|0.443000	0.29094|0.29094	GAC|ACA		0.413	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		C	28309794	T	C	28309794	3	2	13	1	0	0	0	0	1	0	0	0	5729	1667	58	2	187	2	FBXO16	8	28309794	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	9584227	28309794	118054228	44	954											
OPRK1	4986	mdanderson.org;bcgsc.ca	37	chr8	54141872	54141872	+	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	actagtcatactggtttattCatcccatcgatgtccctcag	9	14	6	12	1	3	0	3	0	0	0	6	1	5	0	2	1	1	1	2	1	3	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:54141872C>A	ENST00000265572.3	-	4	1425	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	OPRK1_ENST00000520287.1_Missense_Mutation_p.M376I|OPRK1_ENST00000524278.1_Missense_Mutation_p.M287I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	376					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTGGTTTATTCATCCCATCGA	0.468																																						.											0													120	104	110					8																	54141872		2203	4300	6503	SO:0001583	missense	4986				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.1128G>T	8.37:g.54141872C>A	ENSP00000265572:p.Met376Ile		E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	2.914	-0.224603	0.06061	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.70631	-0.1;-0.5;-0.1	5.8	-1.93	0.07594	.	1.289330	0.04551	N	0.389855	T	0.47948	0.1473	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.32370	T	0.25	.	6.3688	0.21469	0.0:0.3619:0.3871:0.2511	.	376	P41145	OPRK_HUMAN	I	376;287;376;362	ENSP00000265572:M376I;ENSP00000430923:M287I;ENSP00000429706:M376I	ENSP00000265572:M376I	M	-	3	0	OPRK1	54304425	0.019000	0.18553	0.063000	0.19743	0.003000	0.03518	-0.126000	0.10563	-0.320000	0.08640	-0.810000	0.03169	ATG		0.468	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54141872	C	A	54141872	3	1	13	1	0	0	0	0	1	0	0	0	10885	826	29	5	18	5	OPRK1	8	54141872	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	25832078	54141872	92222150	45	955											
EPPK1	83481	ucsc.edu;bcgsc.ca	37	chr8	144944498	144944498	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctctgggctgtgagggTccatgatggttccggtggcc	3	11	17	10	1	1	2	0	2	1	0	4	2	3	2	3	6	0	3	3	6	0	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:144944498T>C	ENST00000525985.1	-	2	2995	c.2924A>G	c.(2923-2925)gAc>gGc	p.D975G				P58107	EPIPL_HUMAN	epiplakin 1	975						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)			GCTGTGAGGGTCCATGATGGT	0.692																																						.											0													7	9	8					8																	144944498		1939	4118	6057	SO:0001583	missense	83481			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.2924A>G	8.37:g.144944498T>C	ENSP00000436337:p.Asp975Gly		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	T	15.97	2.989058	0.53934	.	.	ENSG00000227184	ENST00000525985	D	0.83837	-1.77	4.7	3.55	0.40652	.	.	.	.	.	D	0.85128	0.5626	M	0.88979	2.995	0.34717	D	0.728397	P	0.34757	0.467	B	0.39119	0.291	D	0.87037	0.2138	9	0.52906	T	0.07	.	8.3523	0.32310	0.0:0.0944:0.0:0.9056	.	975	E9PPU0	.	G	975	ENSP00000436337:D975G	ENSP00000436337:D975G	D	-	2	0	EPPK1	145016486	1.000000	0.71417	0.776000	0.31678	0.097000	0.18754	7.725000	0.84808	0.830000	0.34757	0.533000	0.62120	GAC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		C	144944498	T	C	144944498	3	2	13	1	0	0	0	0	1	0	0	0	5190	1667	58	2	4342	2	EPPK1	8	144944498	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	90802626	144944498	1419524	46	956											
UHRF2	115426	broad.mit.edu	37	chr9	6460652	6460652	+	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	ccattttgaaatggaatgaaCtaaatgttggtgatgtggta	13	14	11	3	0	0	3	0	3	0	0	0	4	0	4	1	3	1	2	1	3	6	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:6460652C>T	ENST00000276893.5	+	4	892	c.724C>T	c.(724-726)Cta>Tta	p.L242L		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	242	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGGAATGAACTAAATGTTGG	0.378																																						.											0													117	118	118					9																	6460652		2203	4300	6503	SO:0001819	synonymous_variant	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.724C>T	9.37:g.6460652C>T			Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Silent	SNP	ENST00000276893.5	37	CCDS6469.1																																																																																				0.378	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		T	6460652	C	T	6460652	2	4	13	1	0	0	0	0	0	0	0	1	16967	564	20	4		4	UHRF2	9	6460652	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10		6460652	134752779	47	957											
PRSS3	5646	mdanderson.org	37	chr9	33796801	33796801	+	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	gcagctcactgctacaagacGtaagtgtggggcccctgact	9	8	12	12	1	1	2	1	1	0	1	1	2	1	2	2	2	3	4	2	2	3	2	rs143707562		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:33796801G>A	ENST00000361005.5	+	2	371		c.e2+1		PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000379405.3_Splice_Site|PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						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)			GCTACAAGACGTAAGTGTGGG	0.597													G|||	1	0.000199681	0	0	5008	,	,		18879	0.001		0	False		,,,				2504	0					.											0													70	70	70					9																	33796801		2203	4300	6503	SO:0001630	splice_region_variant	5646				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.371+1G>A	9.37:g.33796801G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654290	0.14580	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	.	.	.	3.21	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1922	0.31374	0.1286:0.0:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS3	33786801	1.000000	0.71417	0.775000	0.31657	0.032000	0.12392	8.277000	0.89896	0.482000	0.27582	0.306000	0.20318	.		0.597	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Intron	A	33796801	G	A	33796801	5	1	13	1	0	0	0	0	0	0	1	0	12622	1159	40	1	422	1	PRSS3	9	33796801	Splice_Site	SNP	G	TCGA-KL-8335-01A-11D-2310-10	27336149	33796801	107416630	48	958											
ANXA1	301	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	75783993	75783993	+	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	tgatcaggattatggtttccCgttctgaaattgacatgaat	11	15	9	6	1	2	4	1	4	1	0	3	5	3	5	1	2	0	2	1	2	3	4			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:75783993C>T	ENST00000376911.1	+	11	1789	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_ENST00000257497.6_Missense_Mutation_p.R303C|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1	303					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R303S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	TATGGTTTCCCGTTCTGAAAT	0.388																																						.											1	Substitution - Missense(1)	lung(1)											230	210	217					9																	75783993		2203	4300	6503	SO:0001583	missense	301			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.907C>T	9.37:g.75783993C>T	ENSP00000366109:p.Arg303Cys			Missense_Mutation	SNP	ENST00000376911.1	37	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744472	0.89663	.	.	ENSG00000135046	ENST00000257497;ENST00000376911	T;T	0.12879	2.64;2.64	5.97	5.08	0.68730	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61657	-0.7018	10	0.87932	D	0	.	14.9487	0.71054	0.0:0.9321:0.0:0.0679	.	303	P04083	ANXA1_HUMAN	C	303	ENSP00000257497:R303C;ENSP00000366109:R303C	ENSP00000257497:R303C	R	+	1	0	ANXA1	74973813	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.929000	0.75852	1.540000	0.49301	0.655000	0.94253	CGT		0.388	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		T	75783993	C	T	75783993	3	4	13	1	0	0	0	0	1	0	0	0	714	652	23	1	949	1	ANXA1	9	75783993	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	41987192	75783993	65429438	49	959											
SPTLC1	10558	broad.mit.edu;hgsc.bcm.edu	37	chr9	94808322	94808322	+	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	tgtccgcacttttccttcaaCactgcaaaaatacctagatg	12	12	5	12	1	1	1	1	0	0	1	3	1	3	1	3	0	3	2	3	0	5	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:94808322C>T	ENST00000262554.2	-	12	1100	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	365					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTTCCTTCAACACTGCAAAAA	0.308																																						.											0													79	79	79					9																	94808322		2202	4298	6500	SO:0001819	synonymous_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1095G>A	9.37:g.94808322C>T			A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	CCDS6692.1																																																																																				0.308	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		T	94808322	C	T	94808322	2	4	13	1	0	0	0	0	0	0	0	1	15122	465	17	4		4	SPTLC1	9	94808322	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10	19024329	94808322	46405109	50	960											
ZNF462	58499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	109689044	109689044	+	Missense_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	accaaagaatgcatcccacgGtgaagatcaacaacgcgatg	16	5	9	11	3	1	3	1	1	0	2	2	4	2	3	2	1	3	1	2	1	5	0			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:109689044G>A	ENST00000277225.5	+	3	3140	c.2851G>A	c.(2851-2853)Gtg>Atg	p.V951M	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.V951M			Q96JM2	ZN462_HUMAN	zinc finger protein 462	951					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						GCATCCCACGGTGAAGATCAA	0.488																																						.											0													108	103	105					9																	109689044		2203	4300	6503	SO:0001583	missense	58499			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.2851G>A	9.37:g.109689044G>A	ENSP00000277225:p.Val951Met		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571617	0.65765	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08008	3.14;3.55	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.995	T	0.00102	-1.2062	9	.	.	.	.	19.7468	0.96255	0.0:0.0:1.0:0.0	.	951;951	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	M	951	ENSP00000277225:V951M;ENSP00000414570:V951M	.	V	+	1	0	ZNF462	108728865	1.000000	0.71417	0.627000	0.29227	0.864000	0.49448	9.713000	0.98740	2.731000	0.93534	0.650000	0.86243	GTG		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109689044	G	A	109689044	3	1	13	1	0	0	0	0	1	0	0	0	17923	1261	44	3	2857	3	ZNF462	9	109689044	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	14880722	109689044	31524387	51	961											
ZNF462	58499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	109691641	109691641	+	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	gtctatgcagatgagcatgaGaagcccacactgatggaaga	14	7	12	8	0	1	5	0	3	1	3	1	7	1	6	1	1	3	2	1	1	3	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:109691641G>A	ENST00000277225.5	+	3	5737	c.5448G>A	c.(5446-5448)gaG>gaA	p.E1816E	ZNF462_ENST00000441147.2_Silent_p.E661E|ZNF462_ENST00000457913.1_Silent_p.E1816E			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1816					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						ATGAGCATGAGAAGCCCACAC	0.552																																						.											0													90	87	88					9																	109691641		2203	4300	6503	SO:0001819	synonymous_variant	58499			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.5448G>A	9.37:g.109691641G>A			Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109691641	G	A	109691641	2	1	13	1	0	0	0	0	0	0	0	1	17923	933	33	4		4	ZNF462	9	109691641	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	2597	109691641	31521790	52	962											
ZFP37	7539	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	115806036	115806036	+	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	ttcatagggtttcacacaagCttgaggtttttcatgcttag	9	16	9	7	0	3	1	3	1	0	0	3	1	3	1	0	2	2	4	0	2	3	7			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:115806036C>A	ENST00000374227.3	-	4	889	c.862G>T	c.(862-864)Gct>Tct	p.A288S	ZFP37_ENST00000555206.1_Missense_Mutation_p.A289S|ZFP37_ENST00000553380.1_Missense_Mutation_p.A303S	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	288					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)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCACACAAGCTTGAGGTTTT	0.393																																						.											0													214	204	208					9																	115806036		2203	4300	6503	SO:0001583	missense	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.862G>T	9.37:g.115806036C>A	ENSP00000363344:p.Ala288Ser		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.832000	0.16820	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05513	3.51;3.43;3.5	4.12	1.06	0.20224	.	1.125650	0.06806	N	0.789524	T	0.03305	0.0096	N	0.03881	-0.34	0.09310	N	1	B;B;B	0.22003	0.063;0.063;0.027	B;B;B	0.21917	0.037;0.037;0.018	T	0.45512	-0.9256	10	0.40728	T	0.16	-0.0391	6.5594	0.22478	0.0:0.5597:0.0:0.4403	.	289;303;288	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	S	288;289;303	ENSP00000363344:A288S;ENSP00000451310:A289S;ENSP00000452552:A303S	ENSP00000363344:A288S	A	-	1	0	ZFP37	114845857	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.302000	0.08221	0.231000	0.21079	0.655000	0.94253	GCT		0.393	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		A	115806036	C	A	115806036	3	1	13	1	0	0	0	0	1	0	0	0	17645	797	28	5	1034	5	ZFP37	9	115806036	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	6114395	115806036	25407395	53	963											
MEGF9	1955	ucsc.edu	37	chr9	123476127	123476127	+	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	agatcgggggtcggggtccgGggagtcgtgggcgccggtac	4	6	22	9	6	0	1	0	0	0	1	4	2	1	2	2	8	1	1	2	8	1	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:123476127G>A	ENST00000373930.3	-	1	621	c.510C>T	c.(508-510)ccC>ccT	p.P170P	MEGF9_ENST00000426959.1_Silent_p.P162P	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	170	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCGGGGTCCGGGGAGTCGTGG	0.731																																						.											0													17	22	21					9																	123476127		1843	4050	5893	SO:0001819	synonymous_variant	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.510C>T	9.37:g.123476127G>A			B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																				0.731	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		A	123476127	G	A	123476127	2	1	13	1	0	0	0	0	0	0	0	1	9464	1219	43	3		3	MEGF9	9	123476127	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	7670091	123476127	17737304	54	964											
AKR1C4	1109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	5254675	5254675	+	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	acagtgctctgggaacccaaCgacataaactatggtaataa	16	8	8	9	1	1	0	0	0	1	0	1	2	1	1	1	2	4	2	1	2	7	4			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:5254675C>T	ENST00000380448.1	+	8	920	c.667C>T	c.(667-669)Cga>Tga	p.R223*	AKR1C4_ENST00000263126.1_Nonsense_Mutation_p.R223*			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	223					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						GGGAACCCAACGACATAAACT	0.393																																						.											0													77	71	73					10																	5254675		2203	4300	6503	SO:0001587	stop_gained	1109			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.667C>T	10.37:g.5254675C>T	ENSP00000369814:p.Arg223*		Q5T6A3|Q8WW84|Q9NS54	Nonsense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626677	0.87560	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	.	.	.	3.13	0.608	0.17569	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.081	0.30744	0.6583:0.3417:0.0:0.0	.	.	.	.	X	223	.	ENSP00000263126:R223X	R	+	1	2	AKR1C4	5244675	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.385000	0.07379	0.249000	0.21456	0.313000	0.20887	CGA		0.393	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		T	5254675	C	T	5254675	4	4	13	1	0	0	0	0	0	1	0	0	472	528	19	1	689	1	AKR1C4	10	5254675	Nonsense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10		5254675	130280072	55	965											
SPAG6	9576	broad.mit.edu	37	chr10	22675803	22675803	+	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	cagtgatattgcaaagcattCtccagagttagcacagacag	14	9	9	9	0	1	3	0	1	1	2	2	3	1	3	1	0	3	4	1	0	3	4			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:22675803C>T	ENST00000376624.3	+	5	735	c.593C>T	c.(592-594)tCt>tTt	p.S198F	SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.S198F|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.S173F|SPAG6_ENST00000376603.2_Missense_Mutation_p.S274F	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	198					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCAAAGCATTCTCCAGAGTTA	0.443																																						.											0													115	109	111					10																	22675803		2203	4300	6503	SO:0001583	missense	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.593C>T	10.37:g.22675803C>T	ENSP00000365811:p.Ser198Phe		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196679	0.38806	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.6	2.7	0.31948	Armadillo-like helical (1);Armadillo-type fold (1);	0.201653	0.53938	N	0.000046	T	0.75273	0.3827	M	0.69358	2.11	0.58432	D	0.999999	B;P;P;P	0.46952	0.391;0.887;0.732;0.573	P;P;P;P	0.54401	0.751;0.673;0.635;0.751	T	0.75668	-0.3238	10	0.87932	D	0	-18.4621	8.521	0.33275	0.0:0.7218:0.1379:0.1403	.	173;274;198;198	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	F	198;274;173;198	ENSP00000365811:S198F;ENSP00000365788:S274F;ENSP00000441325:S173F;ENSP00000323599:S198F	ENSP00000323599:S198F	S	+	2	0	SPAG6	22715809	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	4.029000	0.57253	0.818000	0.34468	-0.253000	0.11424	TCT		0.443	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			T	22675803	C	T	22675803	3	4	13	1	0	0	0	0	1	0	0	0	14982	913	32	4	611	4	SPAG6	10	22675803	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	17421128	22675803	112858944	56	966											
ZNF365	22891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	64136341	64136341	+	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	gtcctatgtgcagacctacaCtgccatggacctccatgcag	9	9	9	14	0	0	1	0	0	0	1	2	2	2	2	5	1	4	2	5	1	2	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:64136341C>A	ENST00000395254.3	+	2	669	c.389C>A	c.(388-390)aCt>aAt	p.T130N	ZNF365_ENST00000395255.3_Missense_Mutation_p.T130N|ZNF365_ENST00000410046.3_Missense_Mutation_p.T130N|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	189										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGACCTACACTGCCATGGAC	0.527																																						.											0													98	83	88					10																	64136341		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.389C>A	10.37:g.64136341C>A	ENSP00000378674:p.Thr130Asn			Missense_Mutation	SNP	ENST00000395254.3	37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409271	0.42715	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35973	1.28;1.28;1.28	5.61	4.7	0.59300	.	0.513588	0.19924	N	0.103030	T	0.36496	0.0969	M	0.64997	1.995	0.58432	D	0.999995	P;B;B;B	0.47910	0.902;0.078;0.161;0.328	B;B;B;B	0.43478	0.421;0.107;0.107;0.107	T	0.17868	-1.0355	10	0.46703	T	0.11	-3.0892	8.0517	0.30581	0.0:0.7281:0.1338:0.1381	.	130;130;130;145	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	N	130	ENSP00000378674:T130N;ENSP00000378675:T130N;ENSP00000387091:T130N	ENSP00000378674:T130N	T	+	2	0	ZNF365	63806347	0.348000	0.24861	0.713000	0.30519	0.989000	0.77384	1.714000	0.37961	1.344000	0.45657	0.555000	0.69702	ACT		0.527	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		A	64136341	C	A	64136341	3	1	13	1	0	0	0	0	1	0	0	0	17866	565	20	5	391	5	ZNF365	10	64136341	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	41460538	64136341	71398406	57	967											
SORCS3	22986	broad.mit.edu;mdanderson.org	37	chr10	106970992	106970992	+	Missense_Mutation	SNP	T	T	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	actgcagccttggtcaaagcTaccttaacagcactgggtaa	12	9	9	11	0	1	0	1	0	0	0	1	0	1	0	2	2	6	4	2	2	4	4			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:106970992T>C	ENST00000369701.3	+	17	2586	c.2359T>C	c.(2359-2361)Tac>Cac	p.Y787H	SORCS3_ENST00000369699.4_Missense_Mutation_p.Y73H	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	787					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGTCAAAGCTACCTTAACAG	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	.											0													104	84	91					10																	106970992		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2359T>C	10.37:g.106970992T>C	ENSP00000358715:p.Tyr787His		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617745	0.66787	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.52057	1.94;0.68;1.09	5.93	5.93	0.95920	VPS10 (1);	0.131761	0.53938	D	0.000059	T	0.72953	0.3525	M	0.86953	2.85	0.58432	D	0.999993	D	0.76494	0.999	D	0.72982	0.979	T	0.77242	-0.2660	9	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	787	Q9UPU3	SORC3_HUMAN	H	787;148;73	ENSP00000358715:Y787H;ENSP00000376876:Y148H;ENSP00000358713:Y73H	.	Y	+	1	0	SORCS3	106960982	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	TAC		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		C	106970992	T	C	106970992	3	2	13	1	0	0	0	0	1	0	0	0	14932	1522	53	2	2425	2	SORCS3	10	106970992	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	42834651	106970992	28563755	58	968											
MUC5B	727897	mdanderson.org	37	chr11	1271809	1271809	+	Missense_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	acacctccacagtgcttaccGccacggccaccacaaccggg	10	4	8	19	3	0	0	0	0	0	0	1	0	1	0	7	2	3	1	7	2	2	1	rs2334756		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:1271809G>A	ENST00000529681.1	+	31	13757	c.13699G>A	c.(13699-13701)Gcc>Acc	p.A4567T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4570T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4567	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			A -> T (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGTGCTTACCGCCACGGCCAC	0.647																																						.											0													127	165	153					11																	1271809		2072	4199	6271	SO:0001583	missense	727897			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.13699G>A	11.37:g.1271809G>A	ENSP00000436812:p.Ala4567Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	6.667	0.491655	0.12702	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.21191	2.02;2.2	2.37	-0.495	0.12030	.	.	.	.	.	T	0.04998	0.0134	N	0.00413	-1.525	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36040	-0.9764	9	0.87932	D	0	.	3.6809	0.08310	0.5528:0.1921:0.2551:0.0	rs2334756;rs2943505	5040;4570	A7Y9J9;E9PBJ0	.;.	T	4567;4570;4511;4417;344	ENSP00000436812:A4567T;ENSP00000415793:A4570T	ENSP00000343037:A4511T	A	+	1	0	MUC5B	1228385	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-3.382000	0.00490	-1.160000	0.02804	-1.451000	0.01035	GCC		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1271809	G	A	1271809	3	1	13	1	0	0	0	0	1	0	0	0	9979	1087	38	1	13830	1	MUC5B	11	1271809	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		1271809	133734707	59	969											
FOLH1	2346	broad.mit.edu;mdanderson.org	37	chr11	49175930	49175930	+	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	ctcaaacaccatccctcctcGaacctgggccacagtgaggt	10	7	8	16	1	1	1	1	1	0	0	4	2	3	1	5	2	2	0	5	2	2	0			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:49175930G>A	ENST00000256999.2	-	16	1998	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_ENST00000356696.3_Nonsense_Mutation_p.R580*|FOLH1_ENST00000340334.7_Nonsense_Mutation_p.R565*|FOLH1_ENST00000343844.4_Nonsense_Mutation_p.R272*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.R565*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	580	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)	ATCCCTCCTCGAACCTGGGCC	0.413																																						.											0													76	64	68					11																	49175930		2200	4278	6478	SO:0001587	stop_gained	2346			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.1738C>T	11.37:g.49175930G>A	ENSP00000256999:p.Arg580*		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	39	7.351063	0.98228	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	.	.	.	3.62	3.62	0.41486	.	0.000000	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.124	0.59342	0.0:0.0:1.0:0.0	.	.	.	.	X	580;580;565;272;565	.	ENSP00000256999:R580X	R	-	1	2	FOLH1	49132506	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.373000	0.66162	2.044000	0.60594	0.404000	0.27445	CGA		0.413	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		A	49175930	G	A	49175930	4	1	13	1	0	0	0	0	0	1	0	0	5979	1066	37	1	530	1	FOLH1	11	49175930	Nonsense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	47904121	49175930	85830586	60	970											
OR9I1	219954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	57886020	57886020	+	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	ctagcgacctttctgaaggcGtcttttacatctttgtttct	6	18	7	10	2	4	1	0	1	4	0	4	2	4	1	1	1	2	1	1	1	3	6			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:57886020G>A	ENST00000302610.1	-	1	896	c.897C>T	c.(895-897)gaC>gaT	p.D299D	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TTCTGAAGGCGTCTTTTACAT	0.428																																						.											0													125	130	129					11																	57886020		2201	4296	6497	SO:0001819	synonymous_variant	219954			AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.897C>T	11.37:g.57886020G>A			Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	CCDS31542.1																																																																																				0.428	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		A	57886020	G	A	57886020	2	1	13	1	0	0	0	0	0	0	0	1	11253	1136	40	1		1	OR9I1	11	57886020	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	8710090	57886020	77120496	61	971											
INTS5	80789	hgsc.bcm.edu;ucsc.edu	37	chr11	62417411	62417411	+	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	tcccgggctgagagttggtgGcccagaatggggtctacgcc	6	8	16	11	2	1	2	0	1	1	2	2	3	2	2	3	5	1	2	3	5	2	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:62417411G>A	ENST00000330574.2	-	2	193	c.141C>T	c.(139-141)ggC>ggT	p.G47G	RP11-831H9.11_ENST00000528405.1_3'UTR	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	47					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						AGAGTTGGTGGCCCAGAATGG	0.537																																						.											0													73	81	78					11																	62417411		2202	4299	6501	SO:0001819	synonymous_variant	80789			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.141C>T	11.37:g.62417411G>A			Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	CCDS8027.1																																																																																				0.537	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		A	62417411	G	A	62417411	2	1	13	1	0	0	0	0	0	0	0	1	7781	1190	42	3		3	INTS5	11	62417411	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	4531391	62417411	72589105	62	972											
KDM2A	22992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	67022407	67022407	+	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	gcattgccaacgtcaccttgAtcgaccttcgaggatgcaag	10	9	10	12	3	1	1	1	1	0	0	3	4	1	2	3	1	3	2	3	1	2	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:67022407A>T	ENST00000529006.2	+	21	3816	c.3370A>T	c.(3370-3372)Atc>Ttc	p.I1124F	KDM2A_ENST00000530342.1_Missense_Mutation_p.I685F|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.I582F|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1124					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						CGTCACCTTGATCGACCTTCG	0.502																																						.											0													100	95	97					11																	67022407		2034	4199	6233	SO:0001583	missense	22992			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.3370A>T	11.37:g.67022407A>T	ENSP00000432786:p.Ile1124Phe		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978847	0.74360	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.18810	2.19;2.19;2.19	5.32	5.32	0.75619	.	0.065369	0.64402	D	0.000007	T	0.39572	0.1083	M	0.69463	2.115	0.49389	D	0.999786	D;P	0.58620	0.983;0.651	P;B	0.56088	0.791;0.353	T	0.28681	-1.0036	10	0.87932	D	0	-15.8009	15.4479	0.75248	1.0:0.0:0.0:0.0	.	685;1124	E9PIL6;Q9Y2K7	.;KDM2A_HUMAN	F	1124;685;582	ENSP00000432786:I1124F;ENSP00000435776:I685F;ENSP00000309302:I582F	ENSP00000309302:I582F	I	+	1	0	KDM2A	66778983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.457000	0.60088	2.228000	0.72767	0.533000	0.62120	ATC		0.502	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		T	67022407	A	T	67022407	3	4	13	1	0	0	0	0	1	0	0	0	8124	333	12	5	3448	5	KDM2A	11	67022407	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	4604996	67022407	67984109	63	973											
PLEKHB1	58473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	73360070	73360070	+	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	ctgacaggtcccgcctgactCcgctctggaaagtccttttg	6	11	10	14	2	1	2	0	2	1	0	4	3	4	3	4	2	0	1	4	2	1	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:73360070C>A	ENST00000354190.5	+	2	463	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000543085.1_5'UTR|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.S11Y|PLEKHB1_ENST00000398494.4_5'UTR|PLEKHB1_ENST00000535129.1_5'UTR|PLEKHB1_ENST00000227214.6_5'UTR	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	11					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CCGCCTGACTCCGCTCTGGAA	0.662																																						.											0													22	27	25					11																	73360070		2109	4234	6343	SO:0001583	missense	58473			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"Pleckstrin homology (PH) domain containing"	19079	protein-coding gene	gene with protein product		607651	"PH domain containing, retinal 1"	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.32C>A	11.37:g.73360070C>A	ENSP00000346127:p.Ser11Tyr		A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191379	0.38707	.	.	ENSG00000021300	ENST00000354190;ENST00000398492	.	.	.	4.41	3.49	0.39957	.	0.410743	0.23249	N	0.050278	T	0.26521	0.0648	N	0.08118	0	0.33815	D	0.628319	P;D	0.54207	0.553;0.965	B;P	0.47981	0.277;0.563	T	0.32508	-0.9904	9	0.59425	D	0.04	-3.2102	7.619	0.28175	0.0:0.8878:0.0:0.1122	.	11;11	Q9UF11-2;Q9UF11	.;PKHB1_HUMAN	Y	11	.	ENSP00000346127:S11Y	S	+	2	0	PLEKHB1	73037718	0.431000	0.25546	0.925000	0.36789	0.985000	0.73830	1.606000	0.36826	2.454000	0.82982	0.655000	0.94253	TCC		0.662	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			A	73360070	C	A	73360070	3	1	13	1	0	0	0	0	1	0	0	0	12064	855	30	5	38	5	PLEKHB1	11	73360070	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	6337663	73360070	61646446	64	974											
PDE3A	5139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	20522512	20522512	+	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	tgtaaggaggcggcggcggcGgaggaggaggaagcagcccc	9	2	21	9	4	0	0	0	0	0	0	0	5	0	5	2	9	2	2	2	9	2	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:20522512G>A	ENST00000359062.3	+	1	334	c.294G>A	c.(292-294)gcG>gcA	p.A98A	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)			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)	CGGCGGCGGCGGAGGAGGAGG	0.741																																						.											0													4	4	4					12																	20522512		2028	4033	6061	SO:0001819	synonymous_variant	5139				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.294G>A	12.37:g.20522512G>A			O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	CCDS31754.1																																																																																				0.741	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			A	20522512	G	A	20522512	2	1	13	1	0	0	0	0	0	0	0	1	11637	1103	39	1		1	PDE3A	12	20522512	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10		20522512	113329383	65	975											
NT5DC3	51559	broad.mit.edu	37	chr12	104171822	104171822	+	Missense_Mutation	SNP	T	T	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	ctggtctgtgcggaacaggcTtccaaactgggcattgaaga	10	9	13	9	1	1	2	0	1	1	1	2	3	2	3	1	4	3	2	1	4	3	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:104171822T>C	ENST00000392876.3	-	14	1472	c.1432A>G	c.(1432-1434)Agc>Ggc	p.S478G		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	478						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						CGGAACAGGCTTCCAAACTGG	0.453																																						.											0													81	82	82					12																	104171822		2203	4300	6503	SO:0001583	missense	51559			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.1432A>G	12.37:g.104171822T>C	ENSP00000376615:p.Ser478Gly		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600902	0.66332	.	.	ENSG00000111696	ENST00000392876	T	0.25749	1.78	5.8	5.8	0.92144	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73783	-0.3874	10	0.87932	D	0	-36.2887	16.1549	0.81657	0.0:0.0:0.0:1.0	.	478	Q86UY8	NT5D3_HUMAN	G	478	ENSP00000376615:S478G	ENSP00000376615:S478G	S	-	1	0	NT5DC3	102695952	1.000000	0.71417	0.982000	0.44146	0.008000	0.06430	5.939000	0.70179	2.209000	0.71365	0.533000	0.62120	AGC		0.453	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		C	104171822	T	C	104171822	3	2	13	1	0	0	0	0	1	0	0	0	10692	1609	56	2	218	2	NT5DC3	12	104171822	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	83649310	104171822	29680073	66	976											
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-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr13:50235138T>G	ENST00000242827.6	-	4	637	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'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																																					NSCLC(39;857 1083 36109 42364 51411)	.											2	Substitution - Missense(2)	endometrium(2)											73	73	73					13																	50235138		2203	4300	6503	SO:0001583	missense	84650			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		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	13	1	0	0	0	0	1	0	0	0	4887	1580	55	5	37	5	EBPL	13	50235138	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10		50235138	64934740	67	977											
C14orf93	60686	hgsc.bcm.edu	37	chr14	23468114	23468114	+	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	tgatgggggtgctgggaggaGgattcccaccctgggagcct	6	8	18	9	0	0	1	0	1	0	0	1	5	1	5	3	6	2	1	3	6	0	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:23468114G>A	ENST00000299088.6	-	2	548	c.119C>T	c.(118-120)cCt>cTt	p.P40L	C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000406429.2_Missense_Mutation_p.P40L|C14orf93_ENST00000397379.3_Missense_Mutation_p.P40L|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.P40L|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397382.4_Missense_Mutation_p.P40L|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	40						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCTGGGAGGAGGATTCCCACC	0.582																																						.											0													57	54	55					14																	23468114		2203	4300	6503	SO:0001583	missense	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.119C>T	14.37:g.23468114G>A	ENSP00000299088:p.Pro40Leu		B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532054	0.85812	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575;ENST00000553958;ENST00000555098;ENST00000555998	T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.93	5.93	0.95920	.	0.264815	0.33496	N	0.004842	T	0.59307	0.2184	L	0.27053	0.805	0.49798	D	0.999823	D;D	0.61697	0.99;0.99	P;P	0.61592	0.891;0.891	T	0.59925	-0.7362	10	0.56958	D	0.05	-29.0913	17.2707	0.87101	0.0:0.0:1.0:0.0	.	40;40	Q9H972;Q9H972-2	CN093_HUMAN;.	L	40	ENSP00000299088:P40L;ENSP00000341353:P40L;ENSP00000380535:P40L;ENSP00000380538:P40L;ENSP00000384768:P40L;ENSP00000380536:P40L;ENSP00000450771:P40L;ENSP00000452036:P40L;ENSP00000451111:P40L;ENSP00000451456:P40L;ENSP00000450866:P40L;ENSP00000451879:P40L	ENSP00000299088:P40L	P	-	2	0	C14orf93	22537954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.305000	0.65750	2.826000	0.97356	0.655000	0.94253	CCT		0.582	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		A	23468114	G	A	23468114	3	1	13	1	0	0	0	0	1	0	0	0	1782	1000	35	4	1521	4	C14orf93	14	23468114	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		23468114	83881426	68	978											
COCH	1690	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	31355089	31355089	+	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	taaagcctctggtacagaagCtgtgcactcatgaacaaatg	14	9	9	9	0	2	2	1	1	1	1	2	2	2	2	1	1	5	3	1	1	6	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:31355089C>G	ENST00000396618.3	+	11	1104	c.1048C>G	c.(1048-1050)Ctg>Gtg	p.L350V	COCH_ENST00000475087.1_Missense_Mutation_p.L350V|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.L201V|COCH_ENST00000216361.4_Missense_Mutation_p.L350V|COCH_ENST00000460581.2_Missense_Mutation_p.L238V|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	350					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGTACAGAAGCTGTGCACTCA	0.448																																						.											0													107	93	98					14																	31355089		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1048C>G	14.37:g.31355089C>G	ENSP00000379862:p.Leu350Val		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.536705|2.536705	0.45176|0.45176	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493|ENST00000542225;ENST00000468826	T;T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12;1.12|.	5.92|5.92	5.92|5.92	0.95590|0.95590	von Willebrand factor, type A (1);|.	0.059077|.	0.64402|.	D|.	0.000003|.	T|T	0.47691|0.47691	0.1459|0.1459	N|N	0.17800|0.17800	0.525|0.525	0.46823|0.46823	D|D	0.999214|0.999214	D;P;P|.	0.76494|.	0.999;0.816;0.633|.	D;B;B|.	0.77557|.	0.99;0.152;0.108|.	T|T	0.51004|0.51004	-0.8760|-0.8760	10|6	0.02654|0.87932	T|D	1|0	-14.207|-14.207	11.6235|11.6235	0.51132|0.51132	0.0:0.8631:0.0:0.1369|0.0:0.8631:0.0:0.1369	.|.	201;350;350|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	V|R	350;350;350;238;201|237;233	ENSP00000216361:L350V;ENSP00000379862:L350V;ENSP00000451528:L350V;ENSP00000451713:L238V;ENSP00000371933:L201V|.	ENSP00000216361:L350V|ENSP00000440215:S237R	L|S	+|+	1|3	2|2	COCH|COCH	30424840|30424840	0.465000|0.465000	0.25815|0.25815	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.829000|0.829000	0.27449|0.27449	2.794000|2.794000	0.96219|0.96219	0.650000|0.650000	0.86243|0.86243	CTG|AGC		0.448	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		G	31355089	C	G	31355089	3	3	13	1	0	0	0	0	1	0	0	0	3656	796	28	5	1086	5	COCH	14	31355089	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	7886975	31355089	75994451	69	979											
PYGL	5836	broad.mit.edu;mdanderson.org	37	chr14	51375670	51375670	+	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	tcatagtattcttttgcctcGtacctgtggggtaggggtgg	5	15	14	7	1	2	0	1	0	1	0	3	0	2	0	2	5	2	3	2	5	4	7			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:51375670G>A	ENST00000216392.7	-	18	2513	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PYGL_ENST00000532462.1_Silent_p.Y727Y|PYGL_ENST00000544180.2_Silent_p.Y693Y	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	727					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CTTTTGCCTCGTACCTGTGGG	0.433																																						.											0													72	73	73					14																	51375670		2203	4300	6503	SO:0001819	synonymous_variant	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2181C>T	14.37:g.51375670G>A			A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.433	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		A	51375670	G	A	51375670	2	1	13	1	0	0	0	0	0	0	0	1	12861	1140	40	1		1	PYGL	14	51375670	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	20020581	51375670	55973870	70	980											
PLD4	122618	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	105394159	105394159	+	Missense_Mutation	SNP	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	catggctccagcccagcttgGgagcccctggaagcagaggc	8	5	14	14	0	0	1	0	0	0	1	1	3	1	3	4	4	4	3	4	4	1	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:105394159G>T	ENST00000392593.4	+	3	408	c.240G>T	c.(238-240)tgG>tgT	p.W80C	PLD4_ENST00000540372.1_Missense_Mutation_p.W87C	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	80					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCCCAGCTTGGGAGCCCCTGG	0.672																																						.											0													12	16	15					14																	105394159		1990	4160	6150	SO:0001583	missense	122618				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.240G>T	14.37:g.105394159G>T	ENSP00000376372:p.Trp80Cys		Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462284	0.26248	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.25414	1.86;1.88;1.8	1.41	1.41	0.22369	.	.	.	.	.	T	0.19046	0.0457	N	0.14661	0.345	0.18873	N	0.999985	P;P	0.50819	0.939;0.898	P;B	0.50136	0.632;0.428	T	0.09509	-1.0671	9	0.45353	T	0.12	-8.6828	6.2642	0.20917	0.0:0.0:1.0:0.0	.	87;80	F5H2B5;Q96BZ4	.;PLD4_HUMAN	C	87;80;78	ENSP00000438677:W87C;ENSP00000376372:W80C;ENSP00000451278:W78C	ENSP00000376372:W80C	W	+	3	0	PLD4	104465204	0.007000	0.16637	0.004000	0.12327	0.003000	0.03518	0.760000	0.26475	1.107000	0.41642	0.205000	0.17691	TGG		0.672	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		T	105394159	G	T	105394159	3	4	13	1	0	0	0	0	1	0	0	0	12048	1241	43	5	246	5	PLD4	14	105394159	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	54018489	105394159	1955381	71	981											
GABRB3	2562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	26825479	26825479	+	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	gactcacctgtggcgaagacAacattcctcgagaccagacg	12	6	10	13	3	1	3	1	0	0	3	3	6	2	3	3	1	1	0	3	1	2	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:26825479A>T	ENST00000311550.5	-	6	780	c.669T>A	c.(667-669)gtT>gtA	p.V223V	GABRB3_ENST00000400188.3_Silent_p.V152V|GABRB3_ENST00000299267.4_Silent_p.V223V|GABRB3_ENST00000545868.1_Silent_p.V138V|GABRB3_ENST00000541819.2_Silent_p.V279V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	223					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGCGAAGACAACATTCCTCG	0.557																																						.											0													114	105	108					15																	26825479		2203	4300	6503	SO:0001819	synonymous_variant	2562				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.669T>A	15.37:g.26825479A>T			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																				0.557	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			T	26825479	A	T	26825479	2	4	13	1	0	0	0	0	0	0	0	1	6168	117	5	5		5	GABRB3	15	26825479	Silent	SNP	A	TCGA-KL-8335-01A-11D-2310-10		26825479	75705913	72	982											
AAGAB	79719	bcgsc.ca	37	chr15	67495157	67495166	+	Stop_Codon_Del	DEL	AATTCAGTGC	AATTCAGTGC	-																															gtcaaaccctagtatgaataAttcagtgctcttcatcagat																										TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	AATTCAGTGC	AATTCAGTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:67495157_67495166delAATTCAGTGC	ENST00000261880.5	-	0	1045_1054				AAGAB_ENST00000542650.1_Stop_Codon_Del|AAGAB_ENST00000561452.1_Stop_Codon_Del|AAGAB_ENST00000538028.1_5'UTR	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein						protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGTATGAATAATTCAGTGCTCTTCATCAGA	0.433																																						.											0																																										SO:0001567	stop_retained_variant	79719			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	Exception_encountered	15.37:g.67495157_67495166delAATTCAGTGC	Exception_encountered		B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Frame_Shift_Del	DEL	ENST00000261880.5	37	CCDS42050.1																																																																																				0.433	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		-	67495166	AATTCAGTGC	-	67495157	7	5	13	1	0	1	0	1	0	0	0	0	15	116	4	0	1	0	AAGAB	15	67495157	Stop_Codon_Del	DEL	AATTCAGTGC	TCGA-KL-8335-01A-11D-2310-10	40669678	67495157	35036235	73	983											
HCN4	10021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	73617514	73617514	+	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	gcatggaggccaccagcttcCgacagttaaagttgatgatc	11	9	11	10	1	0	2	0	2	0	0	2	4	1	3	3	2	1	4	3	2	2	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:73617514C>T	ENST00000261917.3	-	6	2753	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	587					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)		CACCAGCTTCCGACAGTTAAA	0.612																																						.											0													121	114	116					15																	73617514		2198	4297	6495	SO:0001583	missense	10021			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.1760G>A	15.37:g.73617514C>T	ENSP00000261917:p.Arg587Gln		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770322	0.69992	.	.	ENSG00000138622	ENST00000261917	D	0.96745	-4.11	3.76	2.83	0.33086	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.94338	0.8180	M	0.70595	2.14	0.58432	D	0.999997	D	0.65815	0.995	B	0.39590	0.304	D	0.92630	0.6115	9	0.51188	T	0.08	.	13.1458	0.59461	0.0:0.838:0.162:0.0	.	587	Q9Y3Q4	HCN4_HUMAN	Q	587	ENSP00000261917:R587Q	ENSP00000261917:R587Q	R	-	2	0	HCN4	71404567	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	5.838000	0.69388	0.779000	0.33543	0.561000	0.74099	CGG		0.612	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73617514	C	T	73617514	3	4	13	1	0	0	0	0	1	0	0	0	6999	652	23	1	1863	1	HCN4	15	73617514	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	6122357	73617514	28913878	74	984											
A2BP1	54715	hgsc.bcm.edu;ucsc.edu	37	chr16	7383011	7383011	+	Intron	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	tctacgtaaagcatgctggcGtctcaaggagttctcctgca	9	11	10	11	2	3	0	1	0	3	0	5	1	3	1	1	2	4	5	1	2	4	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:7383011G>A	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000436368.2_Silent_p.A3A|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000355637.4_Silent_p.A3A|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.A3A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCATGCTGGCGTCTCAAGGAG	0.478																																					Ovarian(157;934 2567 15163 39509)	.											0													231	186	201					16																	7383011		2197	4300	6497	SO:0001627	intron_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-185138G>A	16.37:g.7383011G>A			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	CCDS55983.1																																																																																				0.478	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		A	7383011	G	A	7383011	1	1	13	0	1	0	0	0	0	0	0	0	3	1132	40	1		1	A2BP1	16	7383011	Intron	SNP	G	TCGA-KL-8335-01A-11D-2310-10		7383011	82971742	75	985											
RPGRIP1L	23322	broad.mit.edu;mdanderson.org	37	chr16	53644927	53644927	+	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	gtatagcttttaagatgtctCtctttgctttgttgttttct	5	23	7	6	0	3	1	0	0	3	1	4	1	3	1	0	0	2	5	0	0	3	9			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:53644927C>G	ENST00000379925.3	-	25	3703	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R1138T|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1184T|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1172T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1218					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)				TAAGATGTCTCTCTTTGCTTT	0.333																																						.											0													233	205	215					16																	53644927		2198	4300	6498	SO:0001583	missense	23322				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.3653G>C	16.37:g.53644927C>G	ENSP00000369257:p.Arg1218Thr		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998717	0.74818	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;D	0.84146	-1.45;-1.81	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	M	0.73598	2.24	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;0.999;0.999;0.994	D	0.92975	0.6401	10	0.87932	D	0	-16.644	19.2677	0.93996	0.0:1.0:0.0:0.0	.	1172;1172;1218;1138	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	T	1218;1138	ENSP00000369257:R1218T;ENSP00000262135:R1138T	ENSP00000262135:R1138T	R	-	2	0	RPGRIP1L	52202428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.617000	0.88574	0.655000	0.94253	AGA		0.333	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		G	53644927	C	G	53644927	3	3	13	1	0	0	0	0	1	0	0	0	13550	913	32	5	306	5	RPGRIP1L	16	53644927	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	46261916	53644927	36709826	76	986											
MBTPS1	8720	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	84132706	84132706	+	Missense_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	ttttcgttggggcgtgacccGtttgatgtttggatgatctt	4	18	13	6	3	1	3	0	3	1	0	2	4	1	4	1	3	0	3	1	3	0	6	rs150244031		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:84132706G>A	ENST00000343411.3	-	3	868	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	125					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCGTGACCCGTTTGATGTTT	0.418													G|||	1	0.000199681	0	0	5008	,	,		17262	0.001		0	False		,,,				2504	0					.											0													204	187	193					16																	84132706		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.373C>T	16.37:g.84132706G>A	ENSP00000344223:p.Arg125Trp		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.1	4.380802	0.82792	.	.	ENSG00000140943	ENST00000343411	T	0.42131	0.98	5.61	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	P	0.53809	0.735	T	0.59904	-0.7366	10	0.72032	D	0.01	-26.0657	15.3007	0.73949	0.0:0.0:0.8594:0.1406	.	125	Q14703	MBTP1_HUMAN	W	125	ENSP00000344223:R125W	ENSP00000344223:R125W	R	-	1	2	MBTPS1	82690207	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	3.038000	0.49783	2.648000	0.89879	0.650000	0.86243	CGG		0.418	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		A	84132706	G	A	84132706	3	1	13	1	0	0	0	0	1	0	0	0	9361	1144	40	1	2869	1	MBTPS1	16	84132706	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	30487779	84132706	6222047	77	987											
SLC13A5	284111	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	6606363	6606363	+	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	gtgcccccgatgctggccgcGtagcagatgcacagggtcat	7	7	14	13	3	1	1	1	0	0	1	1	2	1	1	3	2	4	4	3	2	1	1	rs148755614	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:6606363G>T	ENST00000433363.2	-	5	875	c.642C>A	c.(640-642)taC>taA	p.Y214*	SLC13A5_ENST00000293800.6_Nonsense_Mutation_p.Y197*|SLC13A5_ENST00000381074.4_Nonsense_Mutation_p.Y171*|SLC13A5_ENST00000573648.1_Nonsense_Mutation_p.Y214*	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	214					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGCTGGCCGCGTAGCAGATGC	0.622																																						.											0													146	118	127					17																	6606363		2203	4300	6503	SO:0001587	stop_gained	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.642C>A	17.37:g.6606363G>T	ENSP00000406220:p.Tyr214*		B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Nonsense_Mutation	SNP	ENST00000433363.2	37	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790370	0.16258	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	.	.	.	5.47	-10.9	0.00192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9377	0.86207	0.4812:0.0:0.5188:0.0	.	.	.	.	X	214;214;171	.	ENSP00000293800:Y214X	Y	-	3	2	SLC13A5	6547087	0.005000	0.15991	0.049000	0.19019	0.093000	0.18481	-1.261000	0.02855	-2.109000	0.00838	-1.421000	0.01109	TAC		0.622	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		T	6606363	G	T	6606363	4	4	13	1	0	0	0	0	0	1	0	0	14395	1140	40	5	1096	5	SLC13A5	17	6606363	Nonsense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		6606363	74588847	78	988											
AMAC1L3	643664	mdanderson.org	37	chr17	7385436	7385436	+	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	atggcctgctggtggccctgCtgggtgggggcctgcctgct	1	10	18	12	0	0	0	0	0	0	0	0	0	0	0	4	6	4	3	4	6	0	0	rs199848902	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:7385436C>A	ENST00000412468.2	+	2	248	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	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	45						integral component of membrane (GO:0016021)											GGTGGCCCTGCTGGGTGGGGG	0.662																																						.											0													39	46	44					17																	7385436		2203	4298	6501	SO:0001583	missense	643664				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.133C>A	17.37:g.7385436C>A	ENSP00000396523:p.Leu45Met			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	c	0.220	-1.029059	0.02045	.	.	ENSG00000181222	ENST00000412468	T	0.35421	1.31	4.21	0.736	0.18307	.	.	.	.	.	T	0.22859	0.0552	N	0.24115	0.695	0.26348	N	0.977258	B	0.18013	0.025	B	0.21360	0.034	T	0.21690	-1.0238	9	0.41790	T	0.15	-3.4659	7.3485	0.26676	0.0:0.4871:0.3423:0.1706	.	45	P0C7Q6	S35G6_HUMAN	M	45	ENSP00000396523:L45M	ENSP00000396523:L45M	L	+	1	2	SLC35G6	7326160	0.999000	0.42202	0.999000	0.59377	0.019000	0.09904	0.383000	0.20651	0.055000	0.16094	-2.899000	0.00093	CTG		0.662	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7385436	C	A	7385436	3	1	13	1	0	0	0	0	1	0	0	0	561	796	28	5	139	5	AMAC1L3	17	7385436	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	779073	7385436	73809774	79	989											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7577018	7577018	+	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	cttcttgtcctgcttgcttaCctcgcttagtgctccctggg	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	3	1	4	4	3	1	2	5			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:7577018C>T	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TGCTTGCTTACCTCGCTTAGT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(7)|breast(7)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|large_intestine(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	GRCh37	CD920913	TP53	D							127	112	117					17																	7577018		2203	4300	6503	SO:0001630	splice_region_variant	7157	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;	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.919+1G>A	17.37:g.7577018C>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156918	0.21454	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.038	0.36300	0.0:0.9:0.0:0.1	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517743	1.000000	0.71417	0.939000	0.37840	0.223000	0.24884	4.456000	0.60081	1.259000	0.44117	0.561000	0.74099	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7577018	C	T	7577018	5	4	13	1	0	0	0	0	0	0	1	0	16378	521	18	3	366	3	TP53	17	7577018	Splice_Site	SNP	C	TCGA-KL-8335-01A-11D-2310-10	191582	7577018	73618192	80	990											
SGSH	6448	broad.mit.edu	37	chr17	78190941	78190941	+	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	caaggcgtccaggtgcggggTggcgatggcgctgttgttgt	4	10	19	8	4	0	0	0	0	0	0	1	1	1	0	1	6	1	3	1	6	1	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:78190941T>G	ENST00000326317.6	-	2	225	c.139A>C	c.(139-141)Acc>Ccc	p.T47P	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.P58P|SGSH_ENST00000534910.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	47					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)			AGGTGCGGGGTGGCGATGGCG	0.662																																						.											0													44	48	47					17																	78190941		2198	4293	6491	SO:0001583	missense	6448			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		ENST00000326317.6:c.139A>C	17.37:g.78190941T>G	ENSP00000314606:p.Thr47Pro		A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559069	0.86335	.	.	ENSG00000181523	ENST00000326317	D	0.98362	-4.89	4.42	4.42	0.53409	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.115205	0.64402	D	0.000020	D	0.99137	0.9702	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.99301	1.0901	10	0.87932	D	0	-30.697	13.6498	0.62304	0.0:0.0:0.0:1.0	.	47;50	P51688;Q59EB1	SPHM_HUMAN;.	P	47	ENSP00000314606:T47P	ENSP00000314606:T47P	T	-	1	0	SGSH	75805536	1.000000	0.71417	0.604000	0.28916	0.979000	0.70002	7.404000	0.79996	1.609000	0.50190	0.528000	0.53228	ACC		0.662	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		G	78190941	T	G	78190941	3	3	13	1	0	0	0	0	1	0	0	0	14221	1696	59	5	1397	5	SGSH	17	78190941	Missense_Mutation	SNP	T	TCGA-KL-8335-01A-11D-2310-10	70613923	78190941	3004269	81	991											
CEP192	55125	broad.mit.edu	37	chr18	13049583	13049583	+	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	gaagaaatacgagataacagAgaaaatcagaggcaaaatga	23	4	10	4	1	1	5	1	1	0	4	1	8	1	5	0	1	2	1	0	1	8	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr18:13049583A>G	ENST00000325971.8	+	14	2598	c.1005A>G	c.(1003-1005)agA>agG	p.R335R	CEP192_ENST00000506447.1_Silent_p.R931R|CEP192_ENST00000430049.2_Silent_p.R456R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	335					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						GAGATAACAGAGAAAATCAGA	0.383																																						.											0													112	116	115					18																	13049583		2202	4298	6500	SO:0001819	synonymous_variant	55125			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.1005A>G	18.37:g.13049583A>G			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																					0.383	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		G	13049583	A	G	13049583	2	3	13	1	0	0	0	0	0	0	0	1	3251	301	11	2		2	CEP192	18	13049583	Silent	SNP	A	TCGA-KL-8335-01A-11D-2310-10		13049583	65027665	82	992											
ZNF208	7757	mdanderson.org	37	chr19	22155783	22155783	+	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	tttctctccagtatgaattaCcttatgtttagtaaggattg	10	18	7	6	0	1	1	0	1	1	0	3	2	2	2	2	1	1	3	2	1	6	8	rs199604702		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:22155783C>T	ENST00000397126.4	-	4	2201	c.2053G>A	c.(2053-2055)Gta>Ata	p.V685I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	685					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)				GTATGAATTACCTTATGTTTA	0.383																																						.											0													37	38	37					19																	22155783		1986	4182	6168	SO:0001583	missense	7757			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.2053G>A	19.37:g.22155783C>T	ENSP00000380315:p.Val685Ile			Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	4.480	0.089023	0.08583	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17054	2.3	2.43	-4.86	0.03132	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.24701	0.055	T	0.29852	-0.9998	8	0.42905	T	0.14	.	9.3378	0.38060	0.0:0.3337:0.0:0.6663	.	585	O43345	ZN208_HUMAN	I	685;585	ENSP00000380315:V685I	ENSP00000380315:V685I	V	-	1	0	ZNF208	21947623	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.732000	0.00055	-1.081000	0.03105	-1.169000	0.01745	GTA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22155783	C	T	22155783	3	4	13	1	0	0	0	0	1	0	0	0	17763	507	18	3	1793	3	ZNF208	19	22155783	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10		22155783	36973200	83	993											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	31770165	31770165	+	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	agcatgcggctctgtgacacCtgctgcagcgtcttagccat	7	10	11	13	2	2	1	0	1	2	0	2	1	2	1	2	1	6	4	2	1	1	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:31770165C>A	ENST00000240587.4	-	2	861	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	178					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGTGACACCTGCTGCAGCG	0.637																																						.											0													40	40	40					19																	31770165		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.534G>T	19.37:g.31770165C>A	ENSP00000240587:p.Gln178His		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978299	0.34942	.	.	ENSG00000121297	ENST00000240587	T	0.14640	2.49	5.44	1.8	0.24995	.	0.076230	0.53938	N	0.000059	T	0.10809	0.0264	L	0.42245	1.32	0.46185	D	0.998919	P	0.44578	0.838	B	0.42422	0.387	T	0.09357	-1.0678	10	0.62326	D	0.03	-12.9685	2.8247	0.05482	0.0:0.3714:0.237:0.3916	.	178	Q63HK5	TSH3_HUMAN	H	178	ENSP00000240587:Q178H	ENSP00000240587:Q178H	Q	-	3	2	TSHZ3	36462005	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.314000	0.19432	0.639000	0.30564	0.655000	0.94253	CAG		0.637	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31770165	C	A	31770165	3	1	13	1	0	0	0	0	1	0	0	0	16622	680	24	5	2715	5	TSHZ3	19	31770165	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	9614382	31770165	27358818	84	994											
LRP3	4037	mdanderson.org	37	chr19	33697546	33697546	+	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	acgcgcctggaggctgagttCgtgcggcgggaggcaccccc	5	5	17	14	5	0	1	0	1	0	0	1	3	0	3	3	5	1	3	3	5	0	1	rs1056041	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:33697546C>T	ENST00000253193.7	+	6	1834	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	544					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)					AGGCTGAGTTCGTGCGGCGGG	0.652													C|||	253	0.0505192	0.0098	0.0764	5008	,	,		15119	0.121		0.0447	False		,,,				2504	0.0204					.											0								C		101,4305	79.9+/-118.3	0,101,2102	90	86	87		1632	1	1	19	dbSNP_86	87	462,8138	137.5+/-194.4	15,432,3853	no	coding-synonymous	LRP3	NM_002333.3		15,533,5955	TT,TC,CC		5.3721,2.2923,4.3288		544/771	33697546	563,12443	2203	4300	6503	SO:0001819	synonymous_variant	4037			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.1632C>T	19.37:g.33697546C>T			B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																				0.652	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33697546	C	T	33697546	2	4	13	1	0	0	0	0	0	0	0	1	8958	883	31	1		1	LRP3	19	33697546	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10	1927381	33697546	25431437	85	995											
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	36342723	36342723	+	Missense_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	gcaggagagaagccctgagcGtcgtccccagggccatcaca	10	4	13	14	2	1	2	1	1	0	1	3	4	2	3	4	2	2	1	4	2	1	0	rs150180768		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:36342723G>A	ENST00000378910.5	-	1	16	c.17C>T	c.(16-18)aCg>aTg	p.T6M	NPHS1_ENST00000353632.6_Missense_Mutation_p.T6M|NPHS1_ENST00000591817.1_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	6					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCCTGAGCGTCGTCCCCAG	0.637													g|||	1	0.000199681	0	0.0014	5008	,	,		13427	0		0	False		,,,				2504	0					.											0								A	MET/THR	1,4273		0,1,2136	52	41	45		17	-9.1	0	19	dbSNP_134	45	0,8332		0,0,4166	no	missense	NPHS1	NM_004646.3	81	0,1,6302	AA,AG,GG		0.0,0.0234,0.0079	benign	6/1242	36342723	1,12605	2137	4166	6303	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.17C>T	19.37:g.36342723G>A	ENSP00000368190:p.Thr6Met		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	g	8.225	0.803396	0.16397	2.34E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.73469	-0.73;-0.75	4.55	-9.11	0.00711	.	2.209620	0.01832	N	0.034790	T	0.38612	0.1047	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49995	-0.8879	10	0.02654	T	1	0.0983	2.0626	0.03596	0.4264:0.0955:0.2857:0.1924	.	6	O60500	NPHN_HUMAN	M	6	ENSP00000368190:T6M;ENSP00000343634:T6M	ENSP00000343634:T6M	T	-	2	0	NPHS1	41034563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.640000	0.02009	-2.213000	0.00735	-2.211000	0.00300	ACG		0.637	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36342723	G	A	36342723	3	1	13	1	0	0	0	0	1	0	0	0	10582	1145	40	1	3824	1	NPHS1	19	36342723	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10	2645177	36342723	22786260	86	996											
ZFP82	284406	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	36884930	36884930	+	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	ccatggttttcaattctttcCattatcttccactgggataa	9	17	5	10	0	3	0	1	0	2	0	5	1	5	1	3	2	0	1	3	2	3	7			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:36884930C>T	ENST00000392161.3	-	5	554	c.312G>A	c.(310-312)atG>atA	p.M104I	ZFP82_ENST00000392171.1_Missense_Mutation_p.M104I	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAATTCTTTCCATTATCTTCC	0.328																																						.											0													74	80	78					19																	36884930		2203	4299	6502	SO:0001583	missense	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.312G>A	19.37:g.36884930C>T	ENSP00000431265:p.Met104Ile		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	7.193	0.591840	0.13812	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.07021	3.31;3.23	4.58	4.58	0.56647	.	0.000000	0.46442	D	0.000300	T	0.06826	0.0174	N	0.17278	0.47	0.29209	N	0.874688	B	0.14012	0.009	B	0.15484	0.013	T	0.13415	-1.0510	10	0.33940	T	0.23	.	16.6902	0.85319	0.0:1.0:0.0:0.0	.	104	Q8N141	ZFP82_HUMAN	I	104	ENSP00000431265:M104I;ENSP00000446080:M104I	ENSP00000431265:M104I	M	-	3	0	ZFP82	41576770	0.283000	0.24277	1.000000	0.80357	0.744000	0.42396	1.150000	0.31639	2.548000	0.85928	0.650000	0.86243	ATG		0.328	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		T	36884930	C	T	36884930	3	4	13	1	0	0	0	0	1	0	0	0	17650	594	21	4	1290	4	ZFP82	19	36884930	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	542207	36884930	22244053	87	997											
ZNF260	339324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	37006030	37006030	+	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	tctacaaggttttgcttcagGctaaaagtttttctacattc	10	17	6	8	0	3	0	1	0	2	0	4	0	3	0	0	2	3	4	0	2	5	9			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:37006030G>A	ENST00000523638.1	-	3	1232	c.111C>T	c.(109-111)agC>agT	p.S37S	ZNF260_ENST00000588993.1_Silent_p.S37S|ZNF260_ENST00000592282.1_Silent_p.S37S|ZNF260_ENST00000593142.1_Silent_p.S37S	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	37					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTTGCTTCAGGCTAAAAGTTT	0.373																																						.											0													104	103	104					19																	37006030		2203	4300	6503	SO:0001819	synonymous_variant	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.111C>T	19.37:g.37006030G>A			Q0VF43	Silent	SNP	ENST00000523638.1	37	CCDS33003.1																																																																																				0.373	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		A	37006030	G	A	37006030	2	1	13	1	0	0	0	0	0	0	0	1	17799	1194	42	3		3	ZNF260	19	37006030	Silent	SNP	G	TCGA-KL-8335-01A-11D-2310-10	121100	37006030	22122953	88	998											
LTBP4	8425	bcgsc.ca	37	chr19	41112172	41112172	+	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	agtgagcgccccagatggacCttgtccaaccggctttgaaa	10	8	11	12	2	0	3	0	2	0	1	1	4	1	4	5	2	2	1	5	2	2	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41112172C>T	ENST00000308370.7	+	8	1028	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	LTBP4_ENST00000204005.9_Missense_Mutation_p.P306L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.P276L|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	343					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)			CCAGATGGACCTTGTCCAACC	0.622																																						.											0													21	23	22					19																	41112172		1914	4122	6036	SO:0001583	missense	8425			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.1028C>T	19.37:g.41112172C>T	ENSP00000311905:p.Pro343Leu		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	C	12.15	1.852756	0.32699	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;D	0.90788	-2.73;-2.73;-2.73	3.95	2.88	0.33553	Matrix fibril-associated (2);	0.488989	0.15274	N	0.271066	T	0.82235	0.4993	N	0.22421	0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.73411	-0.3991	10	0.27785	T	0.31	.	9.6525	0.39906	0.0:0.8921:0.0:0.1079	.	276;343;306	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	L	306;343;276	ENSP00000204005:P306L;ENSP00000311905:P343L;ENSP00000380031:P276L	ENSP00000204005:P306L	P	+	2	0	LTBP4	45804012	0.970000	0.33590	0.989000	0.46669	0.504000	0.33889	1.970000	0.40520	0.840000	0.34995	0.305000	0.20034	CCT		0.622	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		T	41112172	C	T	41112172	3	4	13	1	0	0	0	0	1	0	0	0	9076	681	24	4	1351	4	LTBP4	19	41112172	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	4106142	41112172	18016811	89	999											
CYP2A7	1549	broad.mit.edu;mdanderson.org	37	chr19	41384783	41384783	+	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	ccagcccttgcagcaacttaAaggcctgttgctgtggtcct	7	11	10	13	0	0	0	0	0	0	0	1	0	1	0	4	2	5	4	4	2	3	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41384783A>T	ENST00000301146.4	-	5	1254	c.713T>A	c.(712-714)tTt>tAt	p.F238Y	CYP2A7_ENST00000291764.3_Missense_Mutation_p.F187Y|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	238						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAGCAACTTAAAGGCCTGTTG	0.542																																						.											0													106	85	92					19																	41384783		2203	4298	6501	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.713T>A	19.37:g.41384783A>T	ENSP00000301146:p.Phe238Tyr		Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	A	3.487	-0.104571	0.06967	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.68903	-0.36;-0.36	2.18	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	L	0.43757	1.38	0.09310	N	1	B;B;B	0.18863	0.004;0.002;0.031	B;B;B	0.33042	0.018;0.008;0.157	T	0.43081	-0.9413	10	0.25106	T	0.35	.	5.7992	0.18403	0.5777:0.0:0.0:0.4223	.	238;187;238	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	Y	238;187	ENSP00000301146:F238Y;ENSP00000291764:F187Y	ENSP00000291764:F187Y	F	-	2	0	CYP2A7	46076623	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	0.133000	0.15912	0.072000	0.16694	0.155000	0.16302	TTT		0.542	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		T	41384783	A	T	41384783	3	4	13	1	0	0	0	0	1	0	0	0	4163	14	1	5	791	5	CYP2A7	19	41384783	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	272611	41384783	17744200	90	1000											
CYP2F1	1572	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	41628786	41628786	+	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	ctgctgatgaccacacataaCctgctctttggcggcaccaa	10	9	8	14	1	1	2	0	2	1	0	1	2	1	2	3	2	3	3	3	2	2	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41628786C>A	ENST00000331105.2	+	7	954	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	294					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCACACATAACCTGCTCTTTG	0.572																																						.											0													244	174	198					19																	41628786		2203	4300	6503	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.882C>A	19.37:g.41628786C>A	ENSP00000333534:p.Asn294Lys		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.024986	0.35701	.	.	ENSG00000197446	ENST00000331105	T	0.68479	-0.33	2.85	1.79	0.24919	.	0.175028	0.47093	U	0.000243	T	0.77631	0.4159	M	0.76838	2.35	0.36093	D	0.843621	D;D;D	0.89917	1.0;1.0;0.988	D;D;P	0.78314	0.991;0.983;0.724	T	0.79836	-0.1635	10	0.87932	D	0	.	7.3987	0.26952	0.0:0.859:0.0:0.141	.	80;294;294	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	K	294	ENSP00000333534:N294K	ENSP00000333534:N294K	N	+	3	2	CYP2F1	46320626	0.228000	0.23718	0.786000	0.31890	0.139000	0.21198	0.433000	0.21477	0.414000	0.25790	0.398000	0.26397	AAC		0.572	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41628786	C	A	41628786	3	1	13	1	0	0	0	0	1	0	0	0	4171	506	18	5	904	5	CYP2F1	19	41628786	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	244003	41628786	17500197	91	1001											
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	56373450	56373450	+	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	atacctgagcttcaccctcaCgaaactctctcgtgatgaca	11	10	6	14	2	3	3	2	3	1	0	5	4	3	3	2	0	3	1	2	0	2	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:56373450C>T	ENST00000301295.6	+	5	2533	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	NLRP4_ENST00000346986.5_Missense_Mutation_p.T704M|NLRP4_ENST00000587891.1_Missense_Mutation_p.T629M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	704					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCACCCTCACGAAACTCTCT	0.463																																						.											0													147	134	138					19																	56373450		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2111C>T	19.37:g.56373450C>T	ENSP00000301295:p.Thr704Met		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909368	0.33721	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54279	0.58;0.58	3.26	-3.02	0.05446	.	.	.	.	.	T	0.60379	0.2264	M	0.69523	2.12	0.09310	N	1	D;D;D	0.71674	0.992;0.998;0.998	P;D;P	0.62955	0.843;0.909;0.814	T	0.52771	-0.8531	9	0.54805	T	0.06	.	4.1785	0.10363	0.0:0.3701:0.1775:0.4525	.	704;629;704	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	704	ENSP00000301295:T704M;ENSP00000344787:T704M	ENSP00000301295:T704M	T	+	2	0	NLRP4	61065262	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.150000	0.16263	-0.499000	0.06623	-0.253000	0.11424	ACG		0.463	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56373450	C	T	56373450	3	4	13	1	0	0	0	0	1	0	0	0	10479	536	19	1	2125	1	NLRP4	19	56373450	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	14744664	56373450	2755533	92	1002											
ZNF773	374928	mdanderson.org	37	chr19	58016677	58016677	+	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	tcgttttccttaggacttgcAtcttccaagacccatgaaat	10	14	6	11	1	1	2	0	1	1	1	4	3	3	3	3	1	1	2	3	1	3	5	rs199730365		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:58016677A>G	ENST00000282292.4	+	3	311	c.171A>G	c.(169-171)gcA>gcG	p.A57A	ZNF773_ENST00000599847.1_Silent_p.A57A|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000598770.1_Silent_p.A56A|ZNF773_ENST00000593916.1_Silent_p.A56A	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		TAGGACTTGCATCTTCCAAGA	0.468																																						.											0													77	75	76					19																	58016677		2202	4281	6483	SO:0001819	synonymous_variant	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.171A>G	19.37:g.58016677A>G			Q96DL8	Silent	SNP	ENST00000282292.4	37	CCDS33134.1																																																																																				0.468	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		G	58016677	A	G	58016677	2	3	13	1	0	0	0	0	0	0	0	1	18143	204	8	4		4	ZNF773	19	58016677	Silent	SNP	A	TCGA-KL-8335-01A-11D-2310-10	1643227	58016677	1112306	93	1003											
KCNS1	3787	ucsc.edu	37	chr20	43726792	43726792	+	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	cccgggttctccatggtcagCcagaggcggcggcgcaggcg	5	5	17	14	5	2	1	1	0	1	1	3	1	2	1	3	6	1	2	3	6	0	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:43726792C>T	ENST00000306117.1	-	4	1017	c.621G>A	c.(619-621)tgG>tgA	p.W207*	KCNS1_ENST00000537075.1_Nonsense_Mutation_p.W207*	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	207					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)				CCATGGTCAGCCAGAGGCGGC	0.692																																						.											0													7	9	8					20																	43726792		1923	3859	5782	SO:0001587	stop_gained	3787			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.621G>A	20.37:g.43726792C>T	ENSP00000307694:p.Trp207*		A2RUL9|B7ZM31|O43652|Q6DJU6	Nonsense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	38	6.849962	0.97885	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	.	.	.	4.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0704	0.59057	0.0:0.9207:0.0:0.0793	.	.	.	.	X	207	.	ENSP00000307694:W207X	W	-	3	0	KCNS1	43160206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.739000	0.62080	0.946000	0.37632	0.555000	0.69702	TGG		0.692	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		T	43726792	C	T	43726792	4	4	13	1	0	0	0	0	0	1	0	0	8088	740	26	3	967	3	KCNS1	20	43726792	Nonsense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10		43726792	19298728	94	1004											
SLC13A3	64849	bcgsc.ca	37	chr20	45212262	45212262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttgggacgggaagaagaAcaagatggtgacaatagcca	15	6	13	7	1	0	4	0	1	0	3	0	6	0	6	2	3	2	0	2	3	6	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:45212262A>G	ENST00000279027.4	-	9	1186	c.1168T>C	c.(1168-1170)Ttc>Ctc	p.F390L	SLC13A3_ENST00000396360.1_Missense_Mutation_p.F308L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F343L|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000435032.1_Silent_p.C12C|SLC13A3_ENST00000495082.1_Missense_Mutation_p.F343L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.F340L|SLC13A3_ENST00000472148.1_Missense_Mutation_p.F308L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	390					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGAAGAAGAACAAGATGGTG	0.562																																						.											0													133	112	119					20																	45212262		2203	4300	6503	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1168T>C	20.37:g.45212262A>G	ENSP00000279027:p.Phe390Leu		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.939668|4.939668	0.92526|0.92526	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915|ENST00000450298	T;T;T;T;T;T;T|.	0.02103|.	4.45;4.6;4.45;4.6;4.45;4.45;4.45|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79452|0.79452	0.4448|0.4448	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.59357|.	0.903;0.981;0.473;0.985|.	B;P;B;P|.	0.60286|.	0.393;0.797;0.27;0.872|.	T|T	0.81929|0.81929	-0.0708|-0.0708	10|5	0.87932|.	D|.	0|.	-36.4623|-36.4623	16.0152|16.0152	0.80434|0.80434	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	340;308;343;390|.	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9|.	.;.;.;S13A3_HUMAN|.	L|A	343;308;390;308;340;343;343|219	ENSP00000290317:F343L;ENSP00000379648:F308L;ENSP00000279027:F390L;ENSP00000420177:F308L;ENSP00000415852:F340L;ENSP00000419621:F343L;ENSP00000417784:F343L|.	ENSP00000279027:F390L|.	F|V	-|-	1|2	0|0	SLC13A3|SLC13A3	44645669|44645669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.182000|8.182000	0.89698|0.89698	2.180000|2.180000	0.69256|0.69256	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.562	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			G	45212262	A	G	45212262	3	3	13	1	0	0	0	0	1	0	0	0	14393	43	2	2	660	2	SLC13A3	20	45212262	Missense_Mutation	SNP	A	TCGA-KL-8335-01A-11D-2310-10	1485470	45212262	17813258	95	1005											
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	57767954	57767954	+	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	gcaggtgtacggggatgagaCgttcaaaaggatctaccaga	13	7	14	7	2	2	2	1	1	1	2	2	5	2	4	1	4	2	3	1	4	4	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:57767954C>T	ENST00000371030.2	+	1	1880	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	627							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)					GGGGATGAGACGTTCAAAAGG	0.592																																						.											0													57	67	64					20																	57767954		2053	4197	6250	SO:0001583	missense	128611			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.1880C>T	20.37:g.57767954C>T	ENSP00000360069:p.Thr627Met		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642329	0.67244	.	.	ENSG00000124203	ENST00000371030	T	0.21932	1.98	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000032	T	0.45054	0.1323	L	0.56769	1.78	0.45995	D	0.998803	D	0.89917	1.0	D	0.83275	0.996	T	0.39901	-0.9591	10	0.87932	D	0	-23.4817	17.7439	0.88414	0.0:1.0:0.0:0.0	.	627	Q5JPB2	ZN831_HUMAN	M	627	ENSP00000360069:T627M	ENSP00000360069:T627M	T	+	2	0	ZNF831	57201349	1.000000	0.71417	0.918000	0.36340	0.553000	0.35397	5.953000	0.70290	2.423000	0.82170	0.655000	0.94253	ACG		0.592	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57767954	C	T	57767954	3	4	13	1	0	0	0	0	1	0	0	0	18182	536	19	1	1882	1	ZNF831	20	57767954	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	12555692	57767954	5257566	96	1006											
ERG	2078	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr21	39755470	39755470	+	Missense_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	ggagggctggagggtggggcGccacaaagttcatcttctgt	7	9	17	8	1	3	0	1	0	2	0	3	2	3	2	1	6	0	2	1	6	1	2			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr21:39755470G>A	ENST00000417133.2	-	12	1501	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	ERG_ENST00000398919.2_Missense_Mutation_p.A439V|ERG_ENST00000398907.1_Missense_Mutation_p.A409V|ERG_ENST00000398910.1_Missense_Mutation_p.A416V|ERG_ENST00000398905.1_Missense_Mutation_p.A408V|ERG_ENST00000442448.1_Missense_Mutation_p.A415V|ERG_ENST00000398911.1_Missense_Mutation_p.A415V|ERG_ENST00000453032.2_Missense_Mutation_p.A340V|ERG_ENST00000288319.7_Missense_Mutation_p.A432V|ERG_ENST00000398897.1_Missense_Mutation_p.A316V	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)	AGGGTGGGGCGCCACAAAGTT	0.572			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																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"	0													49	50	49					21																	39755470		2203	4300	6503	SO:0001583	missense	2078				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.1316C>T	21.37:g.39755470G>A	ENSP00000414150:p.Ala439Val		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640809	0.67244	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.3	5.3	0.74995	.	0.360808	0.31566	N	0.007439	T	0.50565	0.1623	L	0.52573	1.65	0.80722	D	1	B;B;B;B	0.23854	0.024;0.048;0.092;0.08	B;B;B;B	0.25759	0.018;0.029;0.063;0.063	T	0.43196	-0.9406	10	0.27082	T	0.32	.	18.9951	0.92809	0.0:0.0:1.0:0.0	.	439;408;415;432	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	V	408;409;432;316;415;439;416;415;340;439	ENSP00000381877:A408V;ENSP00000381879:A409V;ENSP00000288319:A432V;ENSP00000381871:A316V;ENSP00000381882:A415V;ENSP00000414150:A439V;ENSP00000381881:A416V;ENSP00000394694:A415V;ENSP00000396268:A340V;ENSP00000381891:A439V	ENSP00000288319:A432V	A	-	2	0	ERG	38677340	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	8.005000	0.88553	2.462000	0.83206	0.655000	0.94253	GCG		0.572	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		A	39755470	G	A	39755470	3	1	13	1	0	0	0	0	1	0	0	0	5222	1087	38	1	148	1	ERG	21	39755470	Missense_Mutation	SNP	G	TCGA-KL-8335-01A-11D-2310-10		39755470	8374425	97	1007											
C21orf29	54084	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr21	45987842	45987842	+	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	tatcctgatcccgcttgtggCgccatcagaagggaccactt	8	10	10	13	2	1	2	1	1	0	1	3	3	3	3	4	2	0	1	4	2	2	3			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr21:45987842C>T	ENST00000323084.4	-	2	195	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	44					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCGCTTGTGGCGCCATCAGAA	0.597																																						.											0													62	56	58					21																	45987842		2203	4300	6503	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.130G>A	21.37:g.45987842C>T	ENSP00000321987:p.Ala44Thr			Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	c	3.616	-0.078592	0.07141	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.40225	1.04	4.88	-1.4	0.08968	Concanavalin A-like lectin/glucanase (1);	1.112690	0.06793	U	0.787278	T	0.29783	0.0744	L	0.56769	1.78	0.09310	N	0.999992	B	0.31837	0.342	B	0.17098	0.017	T	0.18461	-1.0336	10	0.11182	T	0.66	0.2249	5.7612	0.18201	0.1232:0.5092:0.0:0.3676	.	44	Q8WU66	TSEAR_HUMAN	T	44	ENSP00000321987:A44T	ENSP00000321987:A44T	A	-	1	0	TSPEAR	44812270	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.359000	0.20233	-0.099000	0.12263	-0.218000	0.12543	GCC		0.597	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45987842	C	T	45987842	3	4	13	1	0	0	0	0	1	0	0	0	2124	768	27	1	1923	1	C21orf29	21	45987842	Missense_Mutation	SNP	C	TCGA-KL-8335-01A-11D-2310-10	6232372	45987842	2142053	98	1008											
SGSM3	27352	hgsc.bcm.edu;ucsc.edu	37	chr22	40802519	40802519	+	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	atcccgtcgcagatggaggaCgcggagctgcttctgggggt	6	8	17	10	4	1	1	0	0	1	1	3	4	2	4	1	5	2	3	1	5	0	1			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr22:40802519C>T	ENST00000248929.9	+	10	1227	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	SGSM3_ENST00000454798.2_Silent_p.D279D	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						AGATGGAGGACGCGGAGCTGC	0.632																																						.											0													40	35	37					22																	40802519		2203	4300	6503	SO:0001819	synonymous_variant	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1038C>T	22.37:g.40802519C>T				Silent	SNP	ENST00000248929.9	37	CCDS14002.1																																																																																				0.632	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		T	40802519	C	T	40802519	2	4	13	1	0	0	0	0	0	0	0	1	14224	535	19	1		1	SGSM3	22	40802519	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10		40802519	10502047	99	1009											
ABCD1	215	mdanderson.org	37	chrX	153006076	153006076	+	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	gaccaggtgatctacccggaCtcagtggaggacatgcaaag	12	6	13	10	1	2	1	1	1	1	0	2	5	2	4	2	4	2	1	2	4	2	1	rs199997983		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chrX:153006076C>T	ENST00000218104.3	+	7	2082	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	561	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)					TCTACCCGGACTCAGTGGAGG	0.637																																						.											0													81	65	70					X																	153006076		2203	4300	6503	SO:0001819	synonymous_variant	215			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.1683C>T	X.37:g.153006076C>T			Q6GTZ2	Silent	SNP	ENST00000218104.3	37	CCDS14728.1																																																																																				0.637	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		T	153006076	C	T	153006076	2	4	13	1	0	0	0	0	0	0	0	1	60	564	20	4		4	ABCD1	23	153006076	Silent	SNP	C	TCGA-KL-8335-01A-11D-2310-10		153006076	2264484	100	1010											
PER3	8863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	7887260	7887260	+	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	aagctgccggagccgccagaCagcagcagctcgaacaccgg	11	2	13	15	4	0	1	0	0	0	1	1	3	0	2	4	2	7	4	4	2	2	0	rs201449626		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:7887260C>G	ENST00000361923.2	+	17	2422	c.2247C>G	c.(2245-2247)gaC>gaG	p.D749E	PER3_ENST00000377532.3_Missense_Mutation_p.D757E|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	749	CSNK1E 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)		AGCCGCCAGACAGCAGCAGCT	0.652													C|||	1	0.000199681	0	0	5008	,	,		14619	0		0.001	False		,,,				2504	0					.											0													25	31	29					1																	7887260		2190	4279	6469	SO:0001583	missense	8863			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.2247C>G	1.37:g.7887260C>G	ENSP00000355031:p.Asp749Glu		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.58	1.390390	0.25118	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.10477	2.87;2.87	4.43	0.178	0.15058	.	4.474110	0.00669	N	0.000634	T	0.13457	0.0326	L	0.56396	1.775	0.09310	N	1	P;P;P;P	0.44946	0.709;0.761;0.846;0.709	B;B;B;B	0.38683	0.202;0.145;0.279;0.202	T	0.38693	-0.9649	10	0.38643	T	0.18	.	8.3664	0.32389	0.0:0.5211:0.0:0.4789	.	749;757;757;749	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	E	757;749	ENSP00000366755:D757E;ENSP00000355031:D749E	ENSP00000355031:D749E	D	+	3	2	PER3	7809847	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.269000	0.18589	0.113000	0.18004	0.561000	0.74099	GAC		0.652	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7887260	C	G	7887260	3	3	14	1	0	0	0	0	1	0	0	0	11731	477	17	5	2313	5	PER3	1	7887260	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		7887260	241363361	1	1011											
LRRC40	55631	broad.mit.edu;bcgsc.ca	37	chr1	70641632	70641632	+	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	tttaagatgttctgcctctaAcatttcaatctggttttcac	9	18	5	9	0	5	1	2	0	3	1	5	1	5	1	1	1	2	2	1	1	3	7			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:70641632A>T	ENST00000370952.3	-	7	917	c.838T>A	c.(838-840)Tta>Ata	p.L280I		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	280						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						TCTGCCTCTAACATTTCAATC	0.318																																						.											0													107	105	106					1																	70641632		2203	4300	6503	SO:0001583	missense	55631				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.838T>A	1.37:g.70641632A>T	ENSP00000359990:p.Leu280Ile		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449154	0.26074	.	.	ENSG00000066557	ENST00000370952	T	0.56776	0.44	5.46	1.48	0.22813	.	0.214009	0.39687	N	0.001289	T	0.17619	0.0423	N	0.12443	0.215	0.43835	D	0.996415	B	0.33477	0.413	B	0.42738	0.396	T	0.02844	-1.1103	10	0.23891	T	0.37	.	3.5059	0.07691	0.5349:0.0:0.2204:0.2448	.	280	Q9H9A6	LRC40_HUMAN	I	280	ENSP00000359990:L280I	ENSP00000359990:L280I	L	-	1	2	LRRC40	70414220	0.003000	0.15002	1.000000	0.80357	0.939000	0.58152	0.090000	0.15025	0.908000	0.36671	0.477000	0.44152	TTA		0.318	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		T	70641632	A	T	70641632	3	4	14	1	0	0	0	0	1	0	0	0	8998	40	2	5	1006	5	LRRC40	1	70641632	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	62754372	70641632	178608989	2	1012											
NBPF10	100132406	mdanderson.org	37	chr1	145296486	145296486	+	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	ctcctcactccggatgagccGgacaagtcccaggggcagga	9	5	13	14	2	1	1	1	1	0	0	4	4	4	4	4	5	1	1	4	5	1	0			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:145296486G>A	ENST00000342960.5	+	3	443	c.408G>A	c.(406-408)ccG>ccA	p.P136P	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	136						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)		CGGATGAGCCGGACAAGTCCC	0.587																																						.											0																																										SO:0001819	synonymous_variant	100132406			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.408G>A	1.37:g.145296486G>A			Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	CCDS53355.1																																																																																				0.587	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		A	145296486	G	A	145296486	2	1	14	1	0	0	0	0	0	0	0	1	10193	1103	39	1		1	NBPF10	1	145296486	Silent	SNP	G	TCGA-KL-8336-01A-11D-2310-10	74654854	145296486	103954135	3	1013											
KCNN3	3782	broad.mit.edu	37	chr1	154841678	154841678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcttgttggctttggggaAggtggtgctgctggcggtgg	2	12	20	7	2	0	0	0	0	0	0	0	1	0	1	1	8	2	5	1	8	1	3	rs35646025		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:154841678A>G	ENST00000271915.4	-	1	1078	c.763T>C	c.(763-765)Ttc>Ctc	p.F255L	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	260					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)	GCTTTGGGGAAGGTGGTGCTG	0.567																																						.											0													114	107	110					1																	154841678		2203	4300	6503	SO:0001583	missense	3782			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.763T>C	1.37:g.154841678A>G	ENSP00000271915:p.Phe255Leu		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469018	0.26335	.	.	ENSG00000143603	ENST00000271915	D	0.94966	-3.57	4.88	4.88	0.63580	.	0.000000	0.49916	D	0.000129	T	0.79741	0.4498	N	0.08118	0	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.30029	0.11;0.076	T	0.79659	-0.1711	10	0.28530	T	0.3	-29.2671	10.8122	0.46553	1.0:0.0:0.0:0.0	.	261;260	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	L	255	ENSP00000271915:F255L	ENSP00000271915:F255L	F	-	1	0	KCNN3	153108302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.920000	0.48844	2.047000	0.60756	0.533000	0.62120	TTC		0.567	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		G	154841678	A	G	154841678	3	3	14	1	0	0	0	0	1	0	0	0	8080	72	3	2	1486	2	KCNN3	1	154841678	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	9545192	154841678	94408943	4	1014											
IFI16	3428	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	159023498	159023498	+	Missense_Mutation	SNP	T	T	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	cggggagttgagatctgtaaTtcatagtcacatcaaggttg	11	12	12	6	1	4	1	3	1	1	1	4	3	4	2	0	3	0	3	0	3	3	5			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:159023498T>C	ENST00000295809.7	+	11	2516	c.2261T>C	c.(2260-2262)aTt>aCt	p.I754T	IFI16_ENST00000368131.4_Missense_Mutation_p.I698T|IFI16_ENST00000359709.3_Missense_Mutation_p.I698T|IFI16_ENST00000448393.2_Missense_Mutation_p.I642T|IFI16_ENST00000368132.3_Missense_Mutation_p.I698T|IFI16_ENST00000340979.6_Missense_Mutation_p.I642T|IFI16_ENST00000430894.2_Missense_Mutation_p.I702T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	754	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGATCTGTAATTCATAGTCAC	0.393																																						.											0													121	121	121					1																	159023498		2203	4300	6503	SO:0001583	missense	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2261T>C	1.37:g.159023498T>C	ENSP00000295809:p.Ile754Thr		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.598|4.598	0.111156|0.111156	0.08831|0.08831	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.21932	.|1.98;1.98;1.98;1.98;1.98	4.83|4.83	-3.69|-3.69	0.04450|0.04450	.|.	.|.	.|.	.|.	.|.	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.25380|0.25380	0.74|0.74	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.18741	.|0.002;0.03;0.0	.|B;B;B	.|0.23852	.|0.004;0.049;0.008	T|T	0.46076|0.46076	-0.9217|-0.9217	5|9	.|0.13108	.|T	.|0.6	.|.	5.7596|5.7596	0.18192|0.18192	0.0:0.3952:0.3196:0.2851|0.0:0.3952:0.3196:0.2851	.|.	.|702;642;698	.|E7EPR3;Q16666-3;Q16666-2	.|.;.;.	L|T	463|383;754;642;698;698;702	.|ENSP00000295809:I754T;ENSP00000342741:I642T;ENSP00000357113:I698T;ENSP00000357114:I698T;ENSP00000394935:I702T	.|ENSP00000295809:I754T	F|I	+|+	1|2	0|0	IFI16|IFI16	157290122|157290122	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.639000|0.639000	0.38242|0.38242	-1.761000|-1.761000	0.01805|0.01805	-0.563000|-0.563000	0.06078|0.06078	0.496000|0.496000	0.49642|0.49642	TTC|ATT		0.393	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		C	159023498	T	C	159023498	3	2	14	1	0	0	0	0	1	0	0	0	7511	1493	52	4	2127	4	IFI16	1	159023498	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	4181820	159023498	90227123	5	1015											
F5	2153	broad.mit.edu	37	chr1	169511773	169511773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgaattctccagcaccaAgtgaaagtagacgtatccct	12	12	7	10	1	1	3	0	2	1	1	3	3	2	3	3	0	1	3	3	0	5	5			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:169511773A>G	ENST00000367797.3	-	13	2756	c.2555T>C	c.(2554-2556)cTt>cCt	p.L852P	F5_ENST00000367796.3_Missense_Mutation_p.L857P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	852	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCCAGCACCAAGTGAAAGTAG	0.448																																						.											0													186	175	178					1																	169511773		2203	4300	6503	SO:0001583	missense	2153			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.2555T>C	1.37:g.169511773A>G	ENSP00000356771:p.Leu852Pro		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765491	0.49574	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.21543	2.0;2.0	5.53	-7.37	0.01412	.	1.545810	0.04334	N	0.352893	T	0.11281	0.0275	L	0.42245	1.32	0.09310	N	1	D	0.64830	0.994	P	0.60173	0.87	T	0.32929	-0.9888	10	0.59425	D	0.04	0.0797	1.0413	0.01559	0.2441:0.1113:0.2096:0.4349	.	852	P12259	FA5_HUMAN	P	852;857	ENSP00000356771:L852P;ENSP00000356770:L857P	ENSP00000356770:L857P	L	-	2	0	F5	167778397	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.055000	0.14229	-1.317000	0.02292	-0.480000	0.04831	CTT		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		G	169511773	A	G	169511773	3	3	14	1	0	0	0	0	1	0	0	0	5348	72	3	2	4171	2	F5	1	169511773	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	10488275	169511773	79738848	6	1016											
DHX9	1660	hgsc.bcm.edu	37	chr1	182827873	182827873	+	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	cttattttttaatagcctgaAgatccttctgtgccagttgc	8	17	7	9	0	1	2	0	1	1	1	2	2	2	2	3	0	3	1	3	0	4	7			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:182827873A>G	ENST00000367549.3	+	10	1016	c.906A>G	c.(904-906)gaA>gaG	p.E302E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	302	Interaction with BRCA1.				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						AATAGCCTGAAGATCCTTCTG	0.413																																					Colon(69;210 1162 3697 13559 39565)	.											0													70	63	65					1																	182827873		1846	4096	5942	SO:0001819	synonymous_variant	1660			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.906A>G	1.37:g.182827873A>G			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	CCDS41444.1																																																																																				0.413	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		G	182827873	A	G	182827873	2	3	14	1	0	0	0	0	0	0	0	1	4516	69	3	2		2	DHX9	1	182827873	Silent	SNP	A	TCGA-KL-8336-01A-11D-2310-10	13316100	182827873	66422748	7	1017											
OR2C3	81472	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	247695452	247695452	+	Missense_Mutation	SNP	T	T	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	agatggcagcgtagcggtcaTaggacatggtggccagcagg	10	6	17	8	2	1	1	1	0	0	1	1	2	1	2	1	6	3	3	1	6	2	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr1:247695452T>C	ENST00000366487.3	-	2	723	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTAGCGGTCATAGGACATGGT	0.562																																						.											0													75	77	76					1																	247695452		2203	4300	6503	SO:0001583	missense	81472			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.362A>G	1.37:g.247695452T>C	ENSP00000355443:p.Tyr121Cys		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684637	0.47991	.	.	ENSG00000196242	ENST00000366487	T	0.01347	4.99	4.04	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34531	U	0.003895	T	0.05960	0.0155	M	0.81497	2.545	0.25863	N	0.983802	D	0.71674	0.998	P	0.60789	0.879	T	0.06162	-1.0842	10	0.87932	D	0	.	8.2015	0.31428	0.1787:0.0:0.0:0.8213	.	121	Q8N628	OR2C3_HUMAN	C	121	ENSP00000355443:Y121C	ENSP00000355443:Y121C	Y	-	2	0	OR2C3	245762075	0.972000	0.33761	0.399000	0.26333	0.888000	0.51559	1.604000	0.36804	0.690000	0.31570	0.528000	0.53228	TAT		0.562	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		C	247695452	T	C	247695452	3	2	14	1	0	0	0	0	1	0	0	0	10993	1406	49	4	604	4	OR2C3	1	247695452	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	64867579	247695452	1555169	8	1018											
DNAH6	1768	broad.mit.edu	37	chr2	84811142	84811142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgaaagccttgaagatgAggggaatatagtgactcaaa	16	9	12	4	0	1	5	1	4	0	1	1	7	1	6	1	2	1	0	1	2	6	4			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:84811142A>G	ENST00000237449.6	+	14	2257	c.2249A>G	c.(2248-2250)gAg>gGg	p.E750G	DNAH6_ENST00000398278.2_Missense_Mutation_p.E750G|DNAH6_ENST00000389394.3_Missense_Mutation_p.E750G			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	750	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						CTTGAAGATGAGGGGAATATA	0.383																																						.											0													127	125	125					2																	84811142		2203	4300	6503	SO:0001583	missense	1768			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.2249A>G	2.37:g.84811142A>G	ENSP00000237449:p.Glu750Gly		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144826	0.21288	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.28069	1.63;1.74;1.63	5.73	5.73	0.89815	.	0.000000	0.44902	D	0.000406	T	0.50514	0.1620	M	0.63843	1.955	0.42205	D	0.991785	B;D	0.89917	0.029;1.0	B;D	0.69479	0.027;0.964	T	0.43458	-0.9390	10	0.27785	T	0.31	.	14.9947	0.71421	1.0:0.0:0.0:0.0	.	750;329	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	G	750	ENSP00000374045:E750G;ENSP00000381326:E750G;ENSP00000237449:E750G	ENSP00000237449:E750G	E	+	2	0	DNAH6	84664653	1.000000	0.71417	0.955000	0.39395	0.036000	0.12997	7.108000	0.77055	2.180000	0.69256	0.482000	0.46254	GAG		0.383	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84811142	A	G	84811142	3	3	14	1	0	0	0	0	1	0	0	0	4605	304	11	2	2303	2	DNAH6	2	84811142	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10		84811142	158388231	9	1019											
NCAPH	23397	ucsc.edu;bcgsc.ca	37	chr2	97034713	97034713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtgcttctgttaggcaAaccacagggaagctggaaaa	15	8	11	7	0	1	0	0	0	1	0	1	2	1	2	1	3	3	4	1	3	6	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:97034713A>G	ENST00000240423.4	+	16	2045	c.2002A>G	c.(2002-2004)Aac>Gac	p.N668D	NCAPH_ENST00000427946.1_Missense_Mutation_p.N532D|NCAPH_ENST00000455200.1_Missense_Mutation_p.N657D	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	668					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)				CTGTTAGGCAAACCACAGGGA	0.498																																						.											0													29	28	28					2																	97034713		2174	4249	6423	SO:0001583	missense	23397			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.2002A>G	2.37:g.97034713A>G	ENSP00000240423:p.Asn668Asp		B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.75|12.75	2.032861|2.032861	0.35893|0.35893	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000435349|ENST00000240423;ENST00000427946;ENST00000455200	.|T;T;T	.|0.43688	.|0.94;0.94;0.94	5.97|5.97	3.58|3.58	0.41010|0.41010	.|.	.|0.937499	.|0.09187	.|N	.|0.836566	T|T	0.40222|0.40222	0.1108|0.1108	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|B;B	.|0.31125	.|0.202;0.309	.|B;B	.|0.34452	.|0.183;0.138	T|T	0.10451|0.10451	-1.0629|-1.0629	5|10	.|0.10111	.|T	.|0.7	-16.6939|-16.6939	6.0922|6.0922	0.20001|0.20001	0.7534:0.1639:0.0826:0.0|0.7534:0.1639:0.0826:0.0	.|.	.|644;668	.|B4DRG7;Q15003	.|.;CND2_HUMAN	R|D	108|668;532;657	.|ENSP00000240423:N668D;ENSP00000400774:N532D;ENSP00000407308:N657D	.|ENSP00000240423:N668D	K|N	+|+	2|1	0|0	NCAPH|NCAPH	96398440|96398440	0.964000|0.964000	0.33143|0.33143	0.968000|0.968000	0.41197|0.41197	0.673000|0.673000	0.39480|0.39480	1.321000|1.321000	0.33678|0.33678	0.502000|0.502000	0.28037|0.28037	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.498	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		G	97034713	A	G	97034713	3	3	14	1	0	0	0	0	1	0	0	0	10209	14	1	4	2064	4	NCAPH	2	97034713	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	12223571	97034713	146164660	10	1020											
SLC35F5	80255	broad.mit.edu	37	chr2	114508020	114508020	+	Frame_Shift_Del	DEL	G	G	-																															acaaaagcagcatgctttccGcgaagtcctcttgtacactg																								rs60727155	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:114508020delG	ENST00000245680.2	-	4	812	c.399delC	c.(397-399)cgcfs	p.R133fs	SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.R127fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	133					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CATGCTTTCCGCGAAGTCCTC	0.348																																						.											0													86	89	88					2																	114508020		2203	4300	6503	SO:0001589	frameshift_variant	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.399delC	2.37:g.114508020delG	ENSP00000245680:p.Arg133fs		Q9H6P8|Q9H7D8	Frame_Shift_Del	DEL	ENST00000245680.2	37	CCDS2119.1																																																																																				0.348	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		-	114508020	G	-	114508020	7	5	14	1	0	1	0	1	0	0	0	0	14592	1074	38	0	1220	0	SLC35F5	2	114508020	Frame_Shift_Del	DEL	G	TCGA-KL-8336-01A-11D-2310-10	17473307	114508020	128691353	11	1021											
ABCA12	26154	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	215812198	215812198	+	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	ccagtgcagtggataattttCtttttgtgccataactgcac	9	15	8	9	0	1	0	0	0	1	0	1	1	1	1	2	1	4	2	2	1	2	6			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr2:215812198C>T	ENST00000272895.7	-	48	7406	c.7187G>A	c.(7186-7188)aGa>aAa	p.R2396K	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.R2078K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2396	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)		GGATAATTTTCTTTTTGTGCC	0.418																																					Ovarian(66;664 1488 5121 34295)	.											0													160	158	159					2																	215812198		2203	4300	6503	SO:0001583	missense	26154			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.7187G>A	2.37:g.215812198C>T	ENSP00000272895:p.Arg2396Lys		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435377	0.96150	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.80566	-1.39;-1.39	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.074464	0.56097	N	0.000024	D	0.89227	0.6655	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89225	0.3573	10	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	2396;2078	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	2396;2078	ENSP00000272895:R2396K;ENSP00000374312:R2078K	ENSP00000272895:R2396K	R	-	2	0	ABCA12	215520443	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.092000	0.76930	2.771000	0.95319	0.563000	0.77884	AGA		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		T	215812198	C	T	215812198	3	4	14	1	0	0	0	0	1	0	0	0	30	913	32	4	624	4	ABCA12	2	215812198	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	101304178	215812198	27387175	12	1022											
QRICH1	54870	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	49114159	49114159	+	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	tacctgaacctgctgcggctGctgaacctggatctgctgtt	6	12	11	12	1	1	2	0	2	1	0	1	3	1	3	3	2	7	5	3	2	3	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr3:49114159G>C	ENST00000395443.2	-	2	764	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	QRICH1_ENST00000357496.2_Missense_Mutation_p.Q98E|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q98E	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	98	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)		TGCTGCGGCTGCTGAACCTGG	0.483																																						.											0													253	262	259					3																	49114159		2203	4300	6503	SO:0001583	missense	54870				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.292C>G	3.37:g.49114159G>C	ENSP00000378830:p.Gln98Glu		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467285	0.26335	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300;ENST00000437939;ENST00000450685;ENST00000411682	.	.	.	5.37	5.37	0.77165	.	0.483859	0.22110	N	0.064497	T	0.38772	0.1053	N	0.08118	0	0.38317	D	0.943429	B	0.25486	0.127	B	0.19148	0.024	T	0.43750	-0.9372	9	0.66056	D	0.02	-2.655	14.6884	0.69065	0.0:0.1448:0.8552:0.0	.	98	Q2TAL8	QRIC1_HUMAN	E	98	.	ENSP00000350094:Q98E	Q	-	1	0	QRICH1	49089163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.239000	0.65371	2.530000	0.85305	0.561000	0.74099	CAG		0.483	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		C	49114159	G	C	49114159	3	2	14	1	0	0	0	0	1	0	0	0	12879	1328	46	5	2074	5	QRICH1	3	49114159	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10		49114159	148908271	13	1023											
IL17RB	55540	broad.mit.edu	37	chr3	53886982	53886982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcctaatgcaaatatgAatgaagatggcccttccatg	14	12	7	8	0	0	3	0	2	0	1	2	3	2	3	3	1	1	1	3	1	6	5			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr3:53886982A>G	ENST00000288167.3	+	5	448	c.439A>G	c.(439-441)Aat>Gat	p.N147D		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	147					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)		TGCAAATATGAATGAAGATGG	0.418																																						.											0													149	142	144					3																	53886982		2203	4300	6503	SO:0001583	missense	55540			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.439A>G	3.37:g.53886982A>G	ENSP00000288167:p.Asn147Asp		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745677	0.49151	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.15718	3.3;2.4	6.07	4.92	0.64577	.	0.102782	0.43260	N	0.000583	T	0.27027	0.0662	L	0.42245	1.32	0.31571	N	0.656263	D	0.76494	0.999	D	0.80764	0.994	T	0.10636	-1.0621	10	0.10902	T	0.67	-19.2642	8.7811	0.34792	0.916:0.0:0.084:0.0	.	147	Q9NRM6	I17RB_HUMAN	D	147	ENSP00000288167:N147D;ENSP00000418638:N147D	ENSP00000288167:N147D	N	+	1	0	IL17RB	53862022	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	0.998000	0.29744	1.128000	0.42052	0.533000	0.62120	AAT		0.418	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		G	53886982	A	G	53886982	3	3	14	1	0	0	0	0	1	0	0	0	7640	246	9	4	457	4	IL17RB	3	53886982	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	4772823	53886982	144135448	14	1024											
ECE2	9718	broad.mit.edu	37	chr3	184002787	184002787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactggcttgagttcctgTctttcttgctgtcaccattg	4	17	10	10	0	3	1	1	1	2	0	4	2	4	2	2	2	1	3	2	2	0	5			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr3:184002787T>C	ENST00000402825.3	+	9	1396	c.1396T>C	c.(1396-1398)Tct>Cct	p.S466P	ECE2_ENST00000404464.3_Missense_Mutation_p.S348P|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.S319P|ECE2_ENST00000357474.5_Missense_Mutation_p.S394P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	466	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAGTTCCTGTCTTTCTTGCT	0.547											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													83	81	82					3																	184002787		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1396T>C	3.37:g.184002787T>C	ENSP00000384223:p.Ser466Pro	1988	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174854	0.57692	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.21	4.21	0.49690	Peptidase M13 (1);	0.129673	0.53938	D	0.000052	T	0.76004	0.3927	L	0.43152	1.355	0.40643	D	0.981962	P;P;P;B;P;P;P	0.52463	0.853;0.953;0.953;0.011;0.942;0.823;0.943	P;P;P;B;P;P;P	0.59825	0.633;0.864;0.864;0.029;0.786;0.596;0.817	T	0.76471	-0.2947	10	0.49607	T	0.09	-9.1459	7.9437	0.29974	0.1832:0.0:0.0:0.8167	.	68;319;337;348;394;319;466	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	P	466;319;348;394;340	ENSP00000384223:S466P;ENSP00000352052:S319P;ENSP00000385846:S348P;ENSP00000350066:S394P;ENSP00000398444:S340P	ENSP00000350066:S394P	S	+	1	0	ECE2	185485481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.263000	0.43293	1.777000	0.52277	0.523000	0.50628	TCT		0.547	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		C	184002787	T	C	184002787	3	2	14	1	0	0	0	0	1	0	0	0	4890	1667	58	2	1994	2	ECE2	3	184002787	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	130115805	184002787	14019643	15	1025											
FAT4	79633	ucsc.edu;mdanderson.org	37	chr4	126337737	126337737	+	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	cagagtctggatcgggaaacAaaagagcgctttgtcttaat	13	10	11	7	2	2	2	0	0	2	2	3	4	2	4	0	2	2	1	0	2	4	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr4:126337737A>C	ENST00000394329.3	+	6	6991	c.6978A>C	c.(6976-6978)acA>acC	p.T2326T	FAT4_ENST00000335110.5_Silent_p.T624T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2326	Cadherin 22. {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						ATCGGGAAACAAAAGAGCGCT	0.428																																						.											0													234	226	229					4																	126337737		2203	4300	6503	SO:0001819	synonymous_variant	79633			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.6978A>C	4.37:g.126337737A>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126337737	A	C	126337737	2	2	14	1	0	0	0	0	0	0	0	1	5692	117	5	5		5	FAT4	4	126337737	Silent	SNP	A	TCGA-KL-8336-01A-11D-2310-10		126337737	64816539	16	1026											
PRMT10	90826	broad.mit.edu;bcgsc.ca	37	chr4	148594863	148594863	+	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	actgccttttggattgctgcAttataaattgtattcctctt	8	19	6	8	0	1	0	0	0	1	0	2	1	2	1	2	1	3	3	2	1	4	9			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr4:148594863A>T	ENST00000322396.6	-	3	743	c.501T>A	c.(499-501)aaT>aaA	p.N167K	PRMT10_ENST00000541232.1_Missense_Mutation_p.N54K	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		167	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GGATTGCTGCATTATAAATTG	0.393																																						.											0													92	91	92					4																	148594863		2203	4300	6503	SO:0001583	missense	90826																														ENST00000322396.6:c.501T>A	4.37:g.148594863A>T	ENSP00000314396:p.Asn167Lys		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	A	2.429	-0.331220	0.05314	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.20881	2.04;2.04	5.43	-0.181	0.13291	.	0.160534	0.56097	D	0.000027	T	0.10121	0.0248	L	0.28649	0.875	0.28223	N	0.926456	B	0.16166	0.016	B	0.18561	0.022	T	0.16364	-1.0405	10	0.21540	T	0.41	-4.7694	1.2249	0.01932	0.2977:0.213:0.3247:0.1646	.	167	Q6P2P2	ANM10_HUMAN	K	167;54	ENSP00000314396:N167K;ENSP00000439508:N54K	ENSP00000314396:N167K	N	-	3	2	PRMT10	148814313	0.928000	0.31464	0.991000	0.47740	0.716000	0.41182	0.127000	0.15790	0.044000	0.15775	0.533000	0.62120	AAT		0.393	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			T	148594863	A	T	148594863	3	4	14	1	0	0	0	0	1	0	0	0	12536	214	8	5	2076	5	PRMT10	4	148594863	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	22257126	148594863	42559413	17	1027											
ADCY2	108	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	7707862	7707862	+	Missense_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	ccctggagcacttgaatggcGcttataaagtggaggaggga	11	8	15	7	1	0	1	0	1	0	0	0	5	0	5	1	5	1	2	1	5	4	3	rs140842335		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:7707862G>A	ENST00000338316.4	+	9	1401	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	ADCY2_ENST00000537121.1_Missense_Mutation_p.A258T|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	438					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						CTTGAATGGCGCTTATAAAGT	0.413													G|||	1	0.000199681	8e-04	0	5008	,	,		17256	0		0	False		,,,				2504	0					.											0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	126	126	126		1312	6	0.9	5	dbSNP_134	126	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ADCY2	NM_020546.2	58	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	438/1092	7707862	3,13003	2203	4300	6503	SO:0001583	missense	108			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.1312G>A	5.37:g.7707862G>A	ENSP00000342952:p.Ala438Thr		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	31	5.083816	0.94050	2.27E-4	2.33E-4	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81330	-1.48;-1.48	5.96	5.96	0.96718	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.178753	0.48286	D	0.000189	D	0.83519	0.5272	N	0.25647	0.755	0.44843	D	0.997853	D;D	0.62365	0.975;0.991	P;D	0.62955	0.698;0.909	T	0.81466	-0.0920	10	0.34782	T	0.22	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	258;438	B7Z2C1;Q08462	.;ADCY2_HUMAN	T	438;289;258	ENSP00000342952:A438T;ENSP00000444803:A258T	ENSP00000342952:A438T	A	+	1	0	ADCY2	7760862	1.000000	0.71417	0.938000	0.37757	0.949000	0.60115	4.894000	0.63206	2.831000	0.97527	0.650000	0.86243	GCT		0.413	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7707862	G	A	7707862	3	1	14	1	0	0	0	0	1	0	0	0	294	1087	38	1	1346	1	ADCY2	5	7707862	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10		7707862	173207398	18	1028											
AMACR	23600	broad.mit.edu	37	chr5	33989302	33989302	+	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	ttcaagtatctcctcagtgtGttctcctatgaaaggatccc	9	14	7	11	0	4	1	2	1	2	0	7	2	5	2	3	1	0	2	3	1	4	4			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:33989302G>C	ENST00000335606.6	-	5	1133	c.1045C>G	c.(1045-1047)Cac>Gac	p.H349D	AMACR_ENST00000502637.1_Missense_Mutation_p.H334D|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.H349D	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	349					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						TCCTCAGTGTGTTCTCCTATG	0.448																																						.											0													89	92	91					5																	33989302		2203	4300	6503	SO:0001583	missense	23600			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.1045C>G	5.37:g.33989302G>C	ENSP00000334424:p.His349Asp		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705693	0.48412	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.74842	-0.88;-0.88;-0.88	5.6	5.6	0.85130	CoA-transferase family III domain (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	L	0.47078	1.49	0.80722	D	1	B;B;B	0.27997	0.197;0.063;0.063	B;B;B	0.35470	0.203;0.082;0.082	T	0.66031	-0.6024	10	0.19147	T	0.46	-26.3242	19.9797	0.97321	0.0:0.0:1.0:0.0	.	349;334;349	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	D	349;349;334	ENSP00000334424:H349D;ENSP00000371517:H349D;ENSP00000424351:H334D	ENSP00000334424:H349D	H	-	1	0	AMACR	34025059	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	9.456000	0.97628	2.791000	0.96007	0.637000	0.83480	CAC		0.448	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		C	33989302	G	C	33989302	3	2	14	1	0	0	0	0	1	0	0	0	562	1377	48	5	165	5	AMACR	5	33989302	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	26281440	33989302	146925958	19	1029											
WDR70	55100	bcgsc.ca	37	chr5	37721278	37721278	+	Missense_Mutation	SNP	G	G	T																															catggttggaactggaaatgGattggctaaagtctattacg																										TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:37721278G>T	ENST00000265107.4	+	14	1634	c.1478G>T	c.(1477-1479)gGa>gTa	p.G493V		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	493							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGGAAATGGATTGGCTAAA	0.468																																						.											0													146	140	142					5																	37721278		2203	4300	6503	SO:0001583	missense	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1478G>T	5.37:g.37721278G>T	ENSP00000265107:p.Gly493Val		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768127	0.90020	.	.	ENSG00000082068	ENST00000265107	T	0.02197	4.4	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00164	-1.1968	10	0.72032	D	0.01	-62.8479	20.8794	0.99867	0.0:0.0:1.0:0.0	.	493	Q9NW82	WDR70_HUMAN	V	493	ENSP00000265107:G493V	ENSP00000265107:G493V	G	+	2	0	WDR70	37757035	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.444000	0.97578	2.941000	0.99782	0.655000	0.94253	GGA		0.468	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		T	37721278	G	T	37721278	3	4	14	1	0	0	0	0	1	0	0	0	17318	1174	41	5	1532	5	WDR70	5	37721278	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	3731976	37721278	143193982	20	1030	30	2									
WDR70	55100	broad.mit.edu	37	chr5	37721279	37721279	+	Silent	SNP	A	A	G																															atggttggaactggaaatggAttggctaaagtctattacga																										TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr5:37721279A>G	ENST00000265107.4	+	14	1635	c.1479A>G	c.(1477-1479)ggA>ggG	p.G493G		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	493							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGAAATGGATTGGCTAAAG	0.468																																						.											0													146	140	142					5																	37721279		2203	4300	6503	SO:0001819	synonymous_variant	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1479A>G	5.37:g.37721279A>G			Q9H053	Silent	SNP	ENST00000265107.4	37	CCDS34147.1																																																																																				0.468	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		G	37721279	A	G	37721279	2	3	14	1	0	0	0	0	0	0	0	1	17318	320	12	4		4	WDR70	5	37721279	Silent	SNP	A	TCGA-KL-8336-01A-11D-2310-10	1	37721279	143193981	21	1031	30	2									
MUC21	394263	mdanderson.org	37	chr6	30954890	30954890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgacctccagtggggccaAcacagccaccaactctgact	11	6	8	16	1	1	1	0	1	1	0	2	2	2	1	5	2	4	0	5	2	3	1	rs9262379		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr6:30954890A>G	ENST00000376296.3	+	2	1179	c.938A>G	c.(937-939)aAc>aGc	p.N313S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	313	28 X 15 AA approximate tandem repeats.|Ser-rich.		N -> S (in dbSNP:rs9262379). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14574404}.		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						AGTGGGGCCAACACAGCCACC	0.612																																						.											0													159	154	156					6																	30954890		2203	4300	6503	SO:0001583	missense	394263			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.938A>G	6.37:g.30954890A>G	ENSP00000365473:p.Asn313Ser		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	0.142	-1.101159	0.01843	.	.	ENSG00000204544	ENST00000376296	T	0.01215	5.16	4.3	1.1	0.20463	.	.	.	.	.	T	0.00144	0.0004	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21827	-1.0234	8	.	.	.	-1.0265	1.6226	0.02716	0.1878:0.2961:0.3647:0.1514	rs9262379	313	Q5SSG8	MUC21_HUMAN	S	313	ENSP00000365473:N313S	.	N	+	2	0	MUC21	31062869	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-1.270000	0.02831	0.150000	0.19136	-0.320000	0.08662	AAC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		G	30954890	A	G	30954890	3	3	14	1	0	0	0	0	1	0	0	0	9977	43	2	2	944	2	MUC21	6	30954890	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10		30954890	140160177	22	1032											
DAAM2	23500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	39867902	39867902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccagtgacaagtttgTccctgtcatgagcgacttca	9	10	11	11	1	2	2	2	2	0	0	3	4	3	3	2	1	2	1	2	1	1	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr6:39867902T>C	ENST00000398904.2	+	23	2911	c.2729T>C	c.(2728-2730)gTc>gCc	p.V910A	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.V909A|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.V910A|RP11-61I13.3_ENST00000420293.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	910	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)					GACAAGTTTGTCCCTGTCATG	0.582																																						.											0													42	45	44					6																	39867902		2026	4169	6195	SO:0001583	missense	23500			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.2729T>C	6.37:g.39867902T>C	ENSP00000381876:p.Val910Ala		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870333	0.51588	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.18174	2.23;2.23;2.23	5.13	5.13	0.70059	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.240484	0.34133	N	0.004225	T	0.16300	0.0392	M	0.65677	2.01	0.80722	D	1	B;B	0.30439	0.055;0.279	B;B	0.38712	0.089;0.28	T	0.02232	-1.1191	10	0.66056	D	0.02	.	14.7529	0.69540	0.0:0.0:0.0:1.0	.	909;910	G5EA45;Q86T65	.;DAAM2_HUMAN	A	910;910;909	ENSP00000274867:V910A;ENSP00000381876:V910A;ENSP00000437808:V909A	ENSP00000274867:V910A	V	+	2	0	DAAM2	39975880	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	6.019000	0.70818	2.154000	0.67381	0.459000	0.35465	GTC		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			C	39867902	T	C	39867902	3	2	14	1	0	0	0	0	1	0	0	0	4216	1667	58	2	2812	2	DAAM2	6	39867902	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	8913012	39867902	131247165	23	1033											
HSP90AB1	3326	mdanderson.org	37	chr6	44221047	44221047	+	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	tgaaaccgccctgctatcttCtggcttttcccttgaggatc	6	14	8	13	1	2	2	0	2	2	0	4	3	3	3	3	2	2	2	3	2	2	5	rs61729441		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr6:44221047C>T	ENST00000371554.1	+	11	2211	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S666F|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S666F|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	666					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)			CTGCTATCTTCTGGCTTTTCC	0.532																																						.											0													332	336	335					6																	44221047		2203	4300	6503	SO:0001583	missense	3326			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.1997C>T	6.37:g.44221047C>T	ENSP00000360609:p.Ser666Phe		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868141	0.51588	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.17854	2.25;2.25;2.25	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000002	T	0.57403	0.2051	H	0.99104	4.43	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	0.78750	-0.2082	10	0.87932	D	0	-12.9647	17.6805	0.88241	0.0:1.0:0.0:0.0	rs61729441	628;656;666	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	F	666	ENSP00000360709:S666F;ENSP00000325875:S666F;ENSP00000360609:S666F	ENSP00000325875:S666F	S	+	2	0	HSP90AB1	44329025	1.000000	0.71417	0.209000	0.23619	0.048000	0.14542	7.779000	0.85648	2.265000	0.75225	0.508000	0.49915	TCT		0.532	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		T	44221047	C	T	44221047	3	4	14	1	0	0	0	0	1	0	0	0	7402	913	32	4	2035	4	HSP90AB1	6	44221047	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	4353145	44221047	126894020	24	1034											
ZNF12	7559	broad.mit.edu	37	chr7	6732196	6732196	+	Missense_Mutation	SNP	T	T	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	tttttcttgaaggaacagggTtcgtttctacatcaaaagtt	11	16	8	6	1	3	1	1	1	2	0	4	2	3	2	0	2	2	3	0	2	5	7			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:6732196T>C	ENST00000405858.1	-	5	918	c.377A>G	c.(376-378)aAc>aGc	p.N126S	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Intron|ZNF12_ENST00000404360.1_Intron	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	126					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)		AGGAACAGGGTTCGTTTCTAC	0.373																																						.											0													192	187	189					7																	6732196		1837	4087	5924	SO:0001583	missense	7559			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.377A>G	7.37:g.6732196T>C	ENSP00000385939:p.Asn126Ser		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	T	0.124	-1.121875	0.01785	.	.	ENSG00000164631	ENST00000405858;ENST00000399476;ENST00000330442	T	0.05199	3.48	4.45	-1.97	0.07503	.	0.454658	0.18758	N	0.131981	T	0.02610	0.0079	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46373	-0.9196	10	0.02654	T	1	.	9.7496	0.40468	0.0:0.4855:0.0:0.5145	.	126	P17014	ZNF12_HUMAN	S	126;184;90	ENSP00000385939:N126S	ENSP00000331039:N90S	N	-	2	0	ZNF12	6698721	.	.	0.000000	0.03702	0.007000	0.05969	.	.	-0.330000	0.08514	0.528000	0.53228	AAC		0.373	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		C	6732196	T	C	6732196	3	2	14	1	0	0	0	0	1	0	0	0	17715	1725	60	2	1720	2	ZNF12	7	6732196	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10		6732196	152406467	25	1035											
HIP1	3092	hgsc.bcm.edu	37	chr7	75228522	75228522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctggcgtgtttttcctttAcagccacttcctgcgtatta	5	18	7	11	2	1	0	0	0	1	0	3	0	3	0	3	1	3	2	3	1	3	8	rs202058558|rs146838091		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:75228522A>G	ENST00000336926.6	-	2	190	c.164T>C	c.(163-165)gTa>gCa	p.V55A	HIP1_ENST00000434438.2_Missense_Mutation_p.V55A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	55	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				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)	p.V55E(1)		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						TTTTTCCTTTACAGCCACTTC	0.502			T	PDGFRB	CMML																																	.		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	1	Substitution - Missense(1)	lung(1)											158	157	157					7																	75228522		2203	4300	6503	SO:0001583	missense	3092			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.164T>C	7.37:g.75228522A>G	ENSP00000336747:p.Val55Ala		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591713	0.86953	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.30981	1.51;1.51;1.51	5.13	5.13	0.70059	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	L	0.38953	1.18	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.13124	-1.0521	10	0.21014	T	0.42	-21.9336	14.2644	0.66107	1.0:0.0:0.0:0.0	.	55	O00291	HIP1_HUMAN	A	55;55;26	ENSP00000336747:V55A;ENSP00000410300:V55A;ENSP00000414280:V26A	ENSP00000336747:V55A	V	-	2	0	HIP1	75066458	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	8.757000	0.91657	2.154000	0.67381	0.459000	0.35465	GTA		0.502	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		G	75228522	A	G	75228522	3	3	14	1	0	0	0	0	1	0	0	0	7114	391	14	2	3069	2	HIP1	7	75228522	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	68496326	75228522	83910141	26	1036											
CROT	54677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	87006732	87006732	+	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	caaatcctataacttgatttCcttttctaatggagtatttg	11	18	5	7	0	1	1	0	1	1	0	3	2	3	2	2	1	1	1	2	1	5	9			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:87006732C>T	ENST00000331536.3	+	10	1129	c.944C>T	c.(943-945)tCc>tTc	p.S315F	CROT_ENST00000442291.1_Missense_Mutation_p.S315F|CROT_ENST00000419147.2_Missense_Mutation_p.S343F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	315					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)	AACTTGATTTCCTTTTCTAAT	0.294																																						.											0													122	129	127					7																	87006732		2203	4300	6503	SO:0001583	missense	54677				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.944C>T	7.37:g.87006732C>T	ENSP00000331981:p.Ser315Phe		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	7.739	0.700957	0.15172	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89343	-2.5;-2.5;-2.5	6.17	6.17	0.99709	.	0.460969	0.26673	N	0.023082	D	0.82967	0.5152	L	0.31065	0.9	0.31304	N	0.687954	B;B	0.22276	0.011;0.067	B;B	0.23150	0.017;0.044	T	0.80632	-0.1296	10	0.59425	D	0.04	-6.977	11.7019	0.51575	0.0:0.8958:0.0:0.1042	.	343;315	E7EQF2;Q9UKG9	.;OCTC_HUMAN	F	343;315;315	ENSP00000413575:S343F;ENSP00000331981:S315F;ENSP00000411983:S315F	ENSP00000331981:S315F	S	+	2	0	CROT	86844668	0.782000	0.28689	1.000000	0.80357	0.996000	0.88848	1.675000	0.37555	2.941000	0.99782	0.655000	0.94253	TCC		0.294	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		T	87006732	C	T	87006732	3	4	14	1	0	0	0	0	1	0	0	0	3894	855	30	3	1062	3	CROT	7	87006732	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	11778210	87006732	72131931	27	1037											
MUC17	140453	bcgsc.ca	37	chr7	100677833	100677833	+	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	aaggaagcactccattaacaCgtatgcctgtcagcaccaca	14	7	7	13	1	1	0	1	0	0	0	2	1	2	1	3	1	4	3	3	1	4	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:100677833C>A	ENST00000306151.4	+	3	3200	c.3136C>A	c.(3136-3138)Cgt>Agt	p.R1046S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1046	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)					TCCATTAACACGTATGCCTGT	0.507																																						.											0													524	402	443					7																	100677833		2203	4300	6503	SO:0001583	missense	140453			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.3136C>A	7.37:g.100677833C>A	ENSP00000302716:p.Arg1046Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.205	-0.631341	0.03584	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.74	-1.48	0.08745	.	.	.	.	.	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	0.43196	-0.9406	9	0.07990	T	0.79	.	0.3405	0.00332	0.4111:0.2076:0.1754:0.2059	.	1046	Q685J3	MUC17_HUMAN	S	1046	ENSP00000302716:R1046S	ENSP00000302716:R1046S	R	+	1	0	MUC17	100464553	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.689000	0.00198	-2.469000	0.00531	-1.596000	0.00833	CGT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100677833	C	A	100677833	3	1	14	1	0	0	0	0	1	0	0	0	9974	536	19	5	3146	5	MUC17	7	100677833	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	13671101	100677833	58460830	28	1038			1	9		4	4	4115	N	G_C_A	1.389192e-07
MUC17	140453	mdanderson.org	37	chr7	100678932	100678932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgccggtagtcagttctgAggctagcaccctttcagcaa	9	9	10	13	2	3	1	2	1	1	0	3	1	3	1	2	2	2	5	2	2	3	4	rs114941002		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:100678932A>G	ENST00000306151.4	+	3	4299	c.4235A>G	c.(4234-4236)gAg>gGg	p.E1412G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1412	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)					GTCAGTTCTGAGGCTAGCACC	0.502																																						.											0													272	277	275					7																	100678932		2203	4300	6503	SO:0001583	missense	140453			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.4235A>G	7.37:g.100678932A>G	ENSP00000302716:p.Glu1412Gly		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449416	0.04572	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.838	-0.578	0.11724	.	.	.	.	.	T	0.01592	0.0051	N	0.17082	0.46	0.09310	N	1	B	0.27765	0.188	B	0.19946	0.027	T	0.48502	-0.9030	9	0.23891	T	0.37	.	3.0434	0.06146	0.6909:0.0:0.3091:0.0	.	1412	Q685J3	MUC17_HUMAN	G	1412	ENSP00000302716:E1412G	ENSP00000302716:E1412G	E	+	2	0	MUC17	100465652	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.362000	0.07602	-0.153000	0.11137	0.113000	0.15668	GAG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100678932	A	G	100678932	3	3	14	1	0	0	0	0	1	0	0	0	9974	304	11	2	4245	2	MUC17	7	100678932	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	1099	100678932	58459731	29	1039			1	9		4	4	4115	N	G_C_A	1.389192e-07
MUC17	140453	mdanderson.org	37	chr7	100681211	100681211	+	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	gtatgcctgtcagcaccacaGtggtggccagttctgcaatc	8	10	11	12	0	2	0	1	0	1	0	3	0	2	0	3	2	3	4	3	2	2	2	rs147094151	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:100681211G>C	ENST00000306151.4	+	3	6578	c.6514G>C	c.(6514-6516)Gtg>Ctg	p.V2172L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2172	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)					CAGCACCACAGTGGTGGCCAG	0.468																																						.											0								C	LEU/VAL	33,4373		0,33,2170	246	241	243		6514	-1.4	0	7	dbSNP_134	243	373,8227		6,361,3933	no	missense	MUC17	NM_001040105.1	32	6,394,6103	CC,CG,GG		4.3372,0.749,3.1216	benign	2172/4494	100681211	406,12600	2203	4300	6503	SO:0001583	missense	140453			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.6514G>C	7.37:g.100681211G>C	ENSP00000302716:p.Val2172Leu		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.655	-0.807913	0.02819	0.00749	0.043372	ENSG00000169876	ENST00000306151	T	0.02446	4.29	0.683	-1.37	0.09056	.	.	.	.	.	T	0.00328	0.0010	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44667	-0.9313	9	0.24483	T	0.36	.	3.5846	0.07966	0.3877:0.2157:0.3965:0.0	.	2172	Q685J3	MUC17_HUMAN	L	2172	ENSP00000302716:V2172L	ENSP00000302716:V2172L	V	+	1	0	MUC17	100467931	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.419000	0.00565	-1.314000	0.01303	GTG		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681211	G	C	100681211	3	2	14	1	0	0	0	0	1	0	0	0	9974	1029	36	5	6524	5	MUC17	7	100681211	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	2279	100681211	58457452	30	1040			1	9		4	4	4115	N	G_C_A	1.389192e-07
MUC17	140453	mdanderson.org	37	chr7	100681947	100681947	+	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	cagttctgaggctagcacccAttccacaactcctgttgaca	10	10	7	14	0	1	2	0	2	1	0	3	2	3	2	3	1	2	4	3	1	2	4	rs139220229		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:100681947A>T	ENST00000306151.4	+	3	7314	c.7250A>T	c.(7249-7251)cAt>cTt	p.H2417L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2417	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)					GCTAGCACCCATTCCACAACT	0.507																																						.											0													386	369	375					7																	100681947		2203	4300	6503	SO:0001583	missense	140453			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.7250A>T	7.37:g.100681947A>T	ENSP00000302716:p.His2417Leu		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	1.961	-0.438892	0.04636	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.43	0.404	0.16355	.	.	.	.	.	T	0.00998	0.0033	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47774	-0.9091	9	0.11485	T	0.65	.	3.3547	0.07164	0.245:0.5788:0.0:0.1763	.	2417	Q685J3	MUC17_HUMAN	L	2417	ENSP00000302716:H2417L	ENSP00000302716:H2417L	H	+	2	0	MUC17	100468667	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.019000	0.13444	-0.658000	0.05366	-1.625000	0.00788	CAT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100681947	A	T	100681947	3	4	14	1	0	0	0	0	1	0	0	0	9974	217	8	5	7260	5	MUC17	7	100681947	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	736	100681947	58456716	31	1041			1	9		4	4	4115	N	G_C_A	1.389192e-07
LOC441294	441294	broad.mit.edu	37	chr7	143268925	143268926	+	Frame_Shift_Ins	INS	-	-	C																															acgctatggaggagcccggtINSgctacccctcagccctacct																										TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:143268925_143268926insC	ENST00000420911.2	+	1	32_33	c.15_16insC	c.(16-18)gctfs	p.A6fs	RNU6-162P_ENST00000516228.1_RNA	NM_001008747.1	NP_001008747.1	A4D2H0	CTGEF_HUMAN	CTAGE family, member 15	6						integral component of membrane (GO:0016021)											AGGAGCCCGGTGCTACCCCTCA	0.594																																						.											0																																										SO:0001589	frameshift_variant	441294				CCDS64788.1	7q35	2013-02-25	2013-02-25	2013-02-25	ENSG00000176227	ENSG00000271079			37295	protein-coding gene	gene with protein product			"CTAGE family, member 15, pseudogene"	CTAGE15P			Standard	NM_001008747		Approved		uc011kth.3	A4D2H0	OTTHUMG00000153233	Exception_encountered	7.37:g.143268925_143268926insC	ENSP00000474204:p.Ala6fs		A6H8Z8	Frame_Shift_Ins	INS	ENST00000420911.2	37																																																																																					0.594	CTAGE15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330280.2	NM_001008747		C	143268926	-	C	143268925	7	5	14	1	0	1	1	0	0	0	0	0	8880	1683	59	0	17	0	LOC441294	7	143268925	Frame_Shift_Ins	INS	-	TCGA-KL-8336-01A-11D-2310-10	42586978	143268925	15869738	32	1042											
SLC4A2	6522	broad.mit.edu	37	chr7	150763999	150763999	+	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	gtgcggaagaatgccaaaggTtccacacagagtggccgaga	13	5	14	9	2	0	3	0	0	0	3	1	5	1	4	3	3	2	1	3	3	3	1			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr7:150763999T>C	ENST00000485713.1	+	7	1925	c.885T>C	c.(883-885)ggT>ggC	p.G295G	SLC4A2_ENST00000310317.5_Silent_p.G213G|SLC4A2_ENST00000392826.2_Silent_p.G286G|SLC4A2_ENST00000461735.1_Silent_p.G281G|SLC4A2_ENST00000413384.2_Silent_p.G295G	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	295	Pro-rich.				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)		ATGCCAAAGGTTCCACACAGA	0.657																																						.											0													51	56	55					7																	150763999		2203	4300	6503	SO:0001819	synonymous_variant	6522				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.885T>C	7.37:g.150763999T>C			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																				0.657	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		C	150763999	T	C	150763999	2	2	14	1	0	0	0	0	0	0	0	1	14654	1712	60	2		2	SLC4A2	7	150763999	Silent	SNP	T	TCGA-KL-8336-01A-11D-2310-10	7495074	150763999	8374664	33	1043											
LRRC24	441381	ucsc.edu	37	chr8	145748410	145748410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcgtgatgttgctgaggaAgagcatgccgctgcccgtgt	7	9	15	10	3	0	3	0	2	0	1	0	4	0	4	2	1	5	4	2	1	1	1			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr8:145748410A>G	ENST00000529415.2	-	5	1108	c.991T>C	c.(991-993)Ttc>Ctc	p.F331L	LRRC14_ENST00000528528.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.F328L|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	331	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(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)			TTGCTGAGGAAGAGCATGCCG	0.721																																						.											0													20	23	22					8																	145748410		2008	3952	5960	SO:0001583	missense	441381			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.991T>C	8.37:g.145748410A>G	ENSP00000434849:p.Phe331Leu			Missense_Mutation	SNP	ENST00000529415.2	37	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	A	33	5.203611	0.95033	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.66280	-0.2;-0.2	4.73	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106723	0.64402	D	0.000005	T	0.61123	0.2322	N	0.21324	0.655	0.51012	D	0.999903	P;D	0.56968	0.952;0.978	P;P	0.57911	0.652;0.829	T	0.61973	-0.6952	10	0.41790	T	0.15	.	12.2096	0.54371	1.0:0.0:0.0:0.0	.	328;331	G3V1D8;Q50LG9	.;LRC24_HUMAN	L	331;328	ENSP00000434849:F331L;ENSP00000435653:F328L	ENSP00000434849:F331L	F	-	1	0	LRRC24	145719218	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.396000	0.59684	1.992000	0.58205	0.459000	0.35465	TTC		0.721	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		G	145748410	A	G	145748410	3	3	14	1	0	0	0	0	1	0	0	0	8979	72	3	2	554	2	LRRC24	8	145748410	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10		145748410	615612	34	1044											
SMARCA2	6595	mdanderson.org	37	chr9	2039818	2039818	+	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	cagcagcagcagcagcagcaAcagcagccgcagcagcagcc	13	0	12	16	1	0	0	0	0	0	0	0	0	0	0	2	0	12	10	2	0	1	0			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr9:2039818A>G	ENST00000382203.1	+	4	917	c.708A>G	c.(706-708)caA>caG	p.Q236Q	SMARCA2_ENST00000357248.2_Silent_p.Q236Q|SMARCA2_ENST00000382194.1_Silent_p.Q236Q|SMARCA2_ENST00000349721.2_Silent_p.Q236Q|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	236	Poly-Gln.				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)		agcagcagcaacagcagccgc	0.587																																						.											0													11	13	13					9																	2039818		2170	4235	6405	SO:0001819	synonymous_variant	6595			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.708A>G	9.37:g.2039818A>G			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		G	2039818	A	G	2039818	2	3	14	1	0	0	0	0	0	0	0	1	14769	40	2	2		2	SMARCA2	9	2039818	Silent	SNP	A	TCGA-KL-8336-01A-11D-2310-10		2039818	139173613	35	1045											
BICD2	23299	ucsc.edu	37	chr9	95526797	95526797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggctcacctccttgagcTgctccatctcgctgcggata	5	11	9	16	3	2	1	1	1	1	0	6	2	4	2	3	2	3	4	3	2	1	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr9:95526797T>C	ENST00000375512.3	-	1	297	c.230A>G	c.(229-231)cAg>cGg	p.Q77R	BICD2_ENST00000356884.6_Missense_Mutation_p.Q77R	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	77					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						CTCCTTGAGCTGCTCCATCTC	0.697																																						.											0													13	8	9					9																	95526797		2017	3948	5965	SO:0001583	missense	23299			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.230A>G	9.37:g.95526797T>C	ENSP00000364662:p.Gln77Arg		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.070864	0.55539	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.47177	0.85;0.86	4.88	3.72	0.42706	.	0.137012	0.49916	D	0.000130	T	0.42539	0.1207	M	0.64404	1.975	0.38996	D	0.959241	B;B	0.12013	0.005;0.001	B;B	0.11329	0.006;0.002	T	0.33033	-0.9884	10	0.33141	T	0.24	-35.5025	9.3407	0.38079	0.1607:0.0:0.0:0.8393	.	77;77	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	R	77	ENSP00000349351:Q77R;ENSP00000364662:Q77R	ENSP00000349351:Q77R	Q	-	2	0	BICD2	94566618	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.841000	0.55850	0.792000	0.33850	0.374000	0.22700	CAG		0.697	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		C	95526797	T	C	95526797	3	2	14	1	0	0	0	0	1	0	0	0	1429	1580	55	2	2375	2	BICD2	9	95526797	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	93486979	95526797	45686634	36	1046											
GSN	2934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	124089710	124089710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgggggcccaggagctgcTcagggtgctgcgggcccaac	6	4	18	13	2	1	0	1	0	0	0	1	2	1	1	2	5	5	3	2	5	1	0			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr9:124089710T>C	ENST00000373818.4	+	13	1934	c.1865T>C	c.(1864-1866)cTc>cCc	p.L622P	GSN_ENST00000373806.1_Missense_Mutation_p.L47P|GSN_ENST00000373823.3_Missense_Mutation_p.L571P|GSN_ENST00000373808.2_Missense_Mutation_p.L571P|GSN_ENST00000394353.2_Missense_Mutation_p.L582P|GSN_ENST00000436847.1_Missense_Mutation_p.L582P|GSN_ENST00000412819.1_Missense_Mutation_p.L571P|GSN_ENST00000449733.1_Missense_Mutation_p.L571P|GSN_ENST00000545652.1_Missense_Mutation_p.L579P|GSN_ENST00000373807.1_Missense_Mutation_p.L353P|GSN_ENST00000341272.2_Missense_Mutation_p.L571P	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	622	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						CAGGAGCTGCTCAGGGTGCTG	0.642																																						.											0													20	22	21					9																	124089710		2203	4298	6501	SO:0001583	missense	2934			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.1865T>C	9.37:g.124089710T>C	ENSP00000362924:p.Leu622Pro		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366894	0.82463	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;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;0.47;0.74	5.86	5.86	0.93980	Gelsolin domain (1);	0.235112	0.44688	D	0.000424	T	0.71492	0.3346	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.71674	0.972;0.988;0.983;0.972;0.998	P;D;D;P;D	0.66716	0.822;0.91;0.911;0.822;0.946	T	0.74070	-0.3783	10	0.59425	D	0.04	-18.3083	15.7408	0.77894	0.0:0.0:0.0:1.0	.	595;579;582;353;622	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	P	571;582;582;571;571;571;571;555;545;579;622;353;47;47	ENSP00000362929:L571P;ENSP00000411293:L582P;ENSP00000377882:L582P;ENSP00000409358:L571P;ENSP00000416586:L571P;ENSP00000340888:L571P;ENSP00000362914:L571P;ENSP00000445823:L579P;ENSP00000362924:L622P;ENSP00000362913:L353P;ENSP00000362912:L47P	ENSP00000340888:L571P	L	+	2	0	GSN	123129531	1.000000	0.71417	0.971000	0.41717	0.962000	0.63368	5.376000	0.66178	2.367000	0.80283	0.528000	0.53228	CTC		0.642	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		C	124089710	T	C	124089710	3	2	14	1	0	0	0	0	1	0	0	0	6825	1551	54	2	1943	2	GSN	9	124089710	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10	28562913	124089710	17123721	37	1047											
DNAJB12	54788	bcgsc.ca	37	chr10	74095605	74095605	+	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	cctgcacctctgacagtcggCtgcagctgggggtgcccatc	5	8	13	15	1	1	1	0	1	1	0	3	1	1	1	3	3	4	4	3	3	0	0			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:74095605C>T	ENST00000444643.2	-	8	1423	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	DNAJB12_ENST00000338820.3_Missense_Mutation_p.S398N|DNAJB12_ENST00000461919.1_Missense_Mutation_p.S159N|DNAJB12_ENST00000394903.2_Missense_Mutation_p.S398N			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	364						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TGACAGTCGGCTGCAGCTGGG	0.602																																						.											0													111	94	100					10																	74095605		2203	4300	6503	SO:0001583	missense	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"Heat shock proteins / DNAJ (HSP40)"	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.1091G>A	10.37:g.74095605C>T	ENSP00000403313:p.Ser364Asn		B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	37		.	.	.	.	.	.	.	.	.	.	C	13.32	2.203491	0.38905	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.45276	0.9;0.9;0.9	5.29	-4.69	0.03299	Domain of unknown function DUF1977, DnaJ-like (1);	0.575847	0.20614	N	0.088920	T	0.28599	0.0708	L	0.31926	0.97	0.25879	N	0.983617	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.11299	-1.0593	10	0.27082	T	0.32	-11.4477	17.147	0.86768	0.0:0.7521:0.0:0.2479	.	364;364	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	N	398;398;364	ENSP00000345575:S398N;ENSP00000378363:S398N;ENSP00000403313:S364N	ENSP00000345575:S398N	S	-	2	0	DNAJB12	73765611	0.996000	0.38824	0.966000	0.40874	0.993000	0.82548	0.341000	0.19909	-0.750000	0.04740	0.561000	0.74099	AGC		0.602	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			T	74095605	C	T	74095605	3	4	14	1	0	0	0	0	1	0	0	0	4617	797	28	4	40	4	DNAJB12	10	74095605	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		74095605	61439142	38	1048											
USP54	159195	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	75331190	75331190	+	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	agtacttaccttgagagcgcAaaagatgcaggaatctccca	14	8	9	10	1	1	2	0	1	1	2	2	4	1	3	2	1	4	3	2	1	5	3			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:75331190A>C	ENST00000339859.4	-	3	329	c.229T>G	c.(229-231)Tgc>Ggc	p.C77G	USP54_ENST00000428547.1_Missense_Mutation_p.C77G|USP54_ENST00000408019.1_Missense_Mutation_p.C77G|USP54_ENST00000319786.7_Missense_Mutation_p.C77G|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77	USP.				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)					TTGAGAGCGCAAAAGATGCAG	0.428																																					Colon(195;880 2046 8854 25025 38456)	.											0													120	108	111					10																	75331190		1900	4131	6031	SO:0001583	missense	159195			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.229T>G	10.37:g.75331190A>C	ENSP00000345216:p.Cys77Gly		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	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822644	0.71028	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786;ENST00000451492;ENST00000413442;ENST00000433394	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;3.37	5.61	5.61	0.85477	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.60143	0.2246	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.998;0.918;0.999	T	0.65936	-0.6047	10	0.72032	D	0.01	-6.3501	16.0994	0.81158	1.0:0.0:0.0:0.0	.	77;77;77	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	G	77	ENSP00000345216:C77G;ENSP00000386080:C77G;ENSP00000408714:C77G;ENSP00000326547:C77G;ENSP00000402435:C77G;ENSP00000404710:C77G;ENSP00000407245:C77G	ENSP00000326547:C77G	C	-	1	0	USP54	75001196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.855000	0.92236	2.261000	0.74972	0.533000	0.62120	TGC		0.428	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		C	75331190	A	C	75331190	3	2	14	1	0	0	0	0	1	0	0	0	17082	130	5	5	4909	5	USP54	10	75331190	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	1235585	75331190	60203557	39	1049											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	chr10	89711960	89711962	+	In_Frame_Del	DEL	TGT	TGT	-																															ggattatagaccagtggcacTgttgtttcacaagatgatgt																								rs568851024	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:89711960_89711962delTGT	ENST00000371953.3	+	6	1935_1937	c.578_580delTGT	c.(577-582)ctgttg>ctg	p.193_194LL>L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	193	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.L193P(1)|p.V191fs*7(1)|p.L193del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAGTGGCACTGTTGTTTCACAA	0.399		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	55	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(2)|Substitution - Missense(1)	central_nervous_system(16)|prostate(16)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)																																								SO:0001651	inframe_deletion	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.578_580delTGT	10.37:g.89711963_89711965delTGT	ENSP00000361021:p.Leu194del		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.399	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711962	TGT	-	89711960	7	5	14	1	0	1	0	1	0	0	0	0	12738	1580	55	0	600	0	PTEN	10	89711960	In_Frame_Del	DEL	TGT	TCGA-KL-8336-01A-11D-2310-10	14380770	89711960	45822787	40	1050	31	2									
PTEN	5728	bcgsc.ca	37	chr10	89711961	89711963	+	In_Frame_Del	DEL	TGT	TGT	-																															gattatagaccagtggcactGttgtttcacaagatgatgtt																								rs568851024	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr10:89711961_89711963delTGT	ENST00000371953.3	+	6	1936_1938	c.579_581delTGT	c.(577-582)cttgtg>ctg	p.V194del	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	194	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.V191fs*7(1)|p.L193del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTGGCACTGTTGTTTCACAAG	0.399		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(2)	prostate(16)|central_nervous_system(15)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)																																								SO:0001651	inframe_deletion	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.579_581delTGT	10.37:g.89711961_89711963delTGT	ENSP00000361021:p.Val194del		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.399	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711963	TGT	-	89711961	7	5	14	1	0	1	0	1	0	0	0	0	12738	1364	48	0	601	0	PTEN	10	89711961	In_Frame_Del	DEL	TGT	TCGA-KL-8336-01A-11D-2310-10	1	89711961	45822786	41	1051	31	2									
MUC2	4583	mdanderson.org	37	chr11	1093274	1093274	+	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	cggcacacagaccccaacatCgacacccatcaccaccacca	14	2	4	21	2	1	1	1	0	0	1	2	2	1	1	6	1	1	1	6	1	1	0	rs11245949	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:1093274C>T	ENST00000441003.2	+	30	5120	c.5093C>T	c.(5092-5094)tCg>tTg	p.S1698L	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.S1665L|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)	accccaacatcgacacccatc	0.637													N|||	2435	0.486222	0.4826	0.4899	5008	,	,		22392	0.631		0.3608	False		,,,				2504	0.4683					.											0													129	167	154					11																	1093274		1842	3364	5206	SO:0001583	missense	4583			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.5093C>T	11.37:g.1093274C>T	ENSP00000415183:p.Ser1698Leu		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	T	1.748	-0.490089	0.04322	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.08370	3.13;3.1	0.851	-1.7	0.08159	.	227.466000	0.04577	U	0.394340	T	0.06005	0.0156	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40979	-0.9534	9	0.30854	T	0.27	.	5.5277	0.16967	0.0:0.5285:0.0:0.4715	rs11245949;rs59265712	1698	E7EUV1	.	L	1698;1665	ENSP00000415183:S1698L;ENSP00000351956:S1665L	ENSP00000351956:S1665L	S	+	2	0	MUC2	1083274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.256000	0.18351	-1.248000	0.02503	-2.819000	0.00109	TCG		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093274	C	T	1093274	3	4	14	1	0	0	0	0	1	0	0	0	9975	893	31	1	5211	1	MUC2	11	1093274	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		1093274	133913242	42	1052											
OR52L1	338751	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	6007311	6007311	+	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	gacatgatggggtacatgatGaccaaagcggtgagtgagga	13	7	16	5	1	0	5	0	5	0	0	0	7	0	6	1	4	2	1	1	4	2	1			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:6007311G>A	ENST00000332249.4	-	1	904	c.850C>T	c.(850-852)Cat>Tat	p.H284Y		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	284						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)		GGTACATGATGACCAAAGCGG	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	.											0													106	106	106					11																	6007311		2084	4245	6329	SO:0001583	missense	338751			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.850C>T	11.37:g.6007311G>A	ENSP00000330338:p.His284Tyr		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253796	0.22965	.	.	ENSG00000183313	ENST00000332249	T	0.37058	1.22	4.1	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.172439	0.28488	N	0.015173	T	0.44993	0.1320	L	0.51853	1.615	0.09310	N	1	P	0.46706	0.883	P	0.54060	0.741	T	0.30268	-0.9984	10	0.87932	D	0	.	12.1823	0.54218	0.0:0.1737:0.8263:0.0	.	284	Q8NGH7	O52L1_HUMAN	Y	284	ENSP00000330338:H284Y	ENSP00000330338:H284Y	H	-	1	0	OR52L1	5963887	0.000000	0.05858	0.423000	0.26634	0.010000	0.07245	0.072000	0.14617	1.987000	0.57996	0.313000	0.20887	CAT		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		A	6007311	G	A	6007311	3	1	14	1	0	0	0	0	1	0	0	0	11125	1290	45	4	143	4	OR52L1	11	6007311	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	4914037	6007311	128999205	43	1053											
TRIM3	10612	hgsc.bcm.edu;ucsc.edu	37	chr11	6477762	6477762	+	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	tagagcagcaccgagaggagCagctcgccttccgtgcgcgc	8	5	14	14	5	0	2	0	0	0	2	2	4	1	3	3	1	5	4	3	1	1	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:6477762C>A	ENST00000525074.1	-	6	1588	c.1194G>T	c.(1192-1194)ctG>ctT	p.L398L	TRIM3_ENST00000536344.1_Silent_p.L279L|TRIM3_ENST00000359518.3_Silent_p.L398L|TRIM3_ENST00000345851.3_Silent_p.L398L|TRIM3_ENST00000537602.1_Silent_p.L320L|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	398					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)		CCGAGAGGAGCAGCTCGCCTT	0.672																																					Melanoma(6;5 510 1540 25169 29084)	.											0													23	20	21					11																	6477762		2198	4292	6490	SO:0001819	synonymous_variant	10612			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.1194G>T	11.37:g.6477762C>A			B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	CCDS7764.1																																																																																				0.672	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		A	6477762	C	A	6477762	2	1	14	1	0	0	0	0	0	0	0	1	16501	697	25	5		5	TRIM3	11	6477762	Silent	SNP	C	TCGA-KL-8336-01A-11D-2310-10	470451	6477762	128528754	44	1054											
LTBP3	4054	hgsc.bcm.edu;mdanderson.org	37	chr11	65314277	65314277	+	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	ccccgccctcaccgcgacagGccccgcccccctggctgcgg	3	3	11	24	5	1	0	1	0	0	0	1	1	1	0	9	3	1	1	9	3	0	0	rs148780991	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:65314277G>C	ENST00000301873.5	-	15	2490	c.2222C>G	c.(2221-2223)gCc>gGc	p.A741G	LTBP3_ENST00000536982.1_Missense_Mutation_p.A367G|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.A171G|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000322147.4_Missense_Mutation_p.A741G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	741	Cys-rich.				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						ACCGCGACAGGCCCCGCCCCC	0.726													G|||	44	0.00878594	0.0182	0.0101	5008	,	,		8681	0.002		0.0109	False		,,,				2504	0					.											0								G	GLY/ALA,GLY/ALA,GLY/ALA	68,4308		0,68,2120	20	23	22		2222,1871,2222	4.1	1	11	dbSNP_134	22	60,8500		1,58,4221	yes	missense,missense,missense	LTBP3	NM_001130144.2,NM_001164266.1,NM_021070.4	60,60,60	1,126,6341	CC,CG,GG		0.7009,1.5539,0.9895	benign,benign,benign	741/1304,624/1140,741/1257	65314277	128,12808	2188	4280	6468	SO:0001583	missense	4054			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.2222C>G	11.37:g.65314277G>C	ENSP00000301873:p.Ala741Gly		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	CCDS44647.1	16	0.007326007326007326	4	0.008130081300813009	4	0.011049723756906077	0	0.0	8	0.010554089709762533	G	12.27	1.887566	0.33348	0.015539	0.007009	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866;ENST00000527339	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.0	4.08	0.47627	EGF-like calcium-binding (2);	0.251841	0.39341	N	0.001386	T	0.04092	0.0114	N	0.03209	-0.39	0.23192	N	0.998141	B;B;B;B;B;B	0.29136	0.155;0.089;0.033;0.234;0.089;0.044	B;B;B;B;B;B	0.30029	0.09;0.046;0.041;0.11;0.075;0.077	T	0.29701	-1.0003	10	0.24483	T	0.36	.	9.2867	0.37762	0.1011:0.0:0.8989:0.0	.	652;367;624;741;741;171	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2	.;.;.;LTBP3_HUMAN;.;.	G	741;741;171;367;652;81	ENSP00000326647:A741G;ENSP00000301873:A741G;ENSP00000435530:A171G;ENSP00000441912:A367G;ENSP00000435276:A652G;ENSP00000432121:A81G	ENSP00000301873:A741G	A	-	2	0	LTBP3	65070853	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.698000	0.25571	1.109000	0.41680	0.449000	0.29647	GCC		0.726	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		C	65314277	G	C	65314277	3	2	14	1	0	0	0	0	1	0	0	0	9075	1203	42	5	1745	5	LTBP3	11	65314277	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	58836515	65314277	69692239	45	1055											
INTS4	92105	mdanderson.org	37	chr11	77612478	77612478	+	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	acatcttaccctcgtgtagtTcgtgctgttactataagttg	8	16	8	9	2	1	0	0	0	1	0	3	0	1	0	1	0	3	5	1	0	5	7			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:77612478T>G	ENST00000534064.1	-	18	2251	c.2217A>C	c.(2215-2217)cgA>cgC	p.R739R	INTS4_ENST00000535943.1_Silent_p.R114R|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	739					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)			CTCGTGTAGTTCGTGCTGTTA	0.408																																						.											0													214	191	199					11																	77612478		2200	4292	6492	SO:0001819	synonymous_variant	92105			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.2217A>C	11.37:g.77612478T>G			Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																				0.408	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		G	77612478	T	G	77612478	2	3	14	1	0	0	0	0	0	0	0	1	7780	1770	62	5		5	INTS4	11	77612478	Silent	SNP	T	TCGA-KL-8336-01A-11D-2310-10	12298201	77612478	57394038	46	1056											
NARS2	79731	broad.mit.edu;bcgsc.ca	37	chr11	78277251	78277251	+	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	aacccagaacgttagtcctaCacctaaagtgaggatattgt	14	10	8	9	1	0	2	0	1	0	1	1	3	1	3	3	1	3	1	3	1	7	5			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:78277251C>T	ENST00000281038.5	-	4	815	c.440G>A	c.(439-441)tGt>tAt	p.C147Y	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	147					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GTTAGTCCTACACCTAAAGTG	0.398																																						.											0													111	108	109					11																	78277251		2200	4291	6491	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.440G>A	11.37:g.78277251C>T	ENSP00000281038:p.Cys147Tyr		G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.540877	0.27563	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.78816	-1.21;-1.21	5.13	5.13	0.70059	Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85672	0.1295	10	0.87932	D	0	-10.5576	17.7175	0.88342	0.0:1.0:0.0:0.0	.	147	Q96I59	SYNM_HUMAN	Y	147	ENSP00000281038:C147Y;ENSP00000432240:C147Y	ENSP00000281038:C147Y	C	-	2	0	NARS2	77954899	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.850000	0.75420	2.547000	0.85894	0.655000	0.94253	TGT		0.398	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		T	78277251	C	T	78277251	3	4	14	1	0	0	0	0	1	0	0	0	10171	478	17	4	1037	4	NARS2	11	78277251	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	664773	78277251	56729265	47	1057											
DYNC2H1	79659	broad.mit.edu	37	chr11	103006273	103006273	+	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	gaaacaacactggaatcatcAactgtacaaagctctggagc	16	7	8	10	0	3	0	2	0	1	0	3	3	3	2	0	2	6	2	0	2	6	1			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr11:103006273A>T	ENST00000375735.2	+	16	2399	c.2255A>T	c.(2254-2256)cAa>cTa	p.Q752L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q752L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	752	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)		TGGAATCATCAACTGTACAAA	0.348																																						.											0													78	74	75					11																	103006273		1838	4099	5937	SO:0001583	missense	79659			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.2255A>T	11.37:g.103006273A>T	ENSP00000364887:p.Gln752Leu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252082	0.80135	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.35789	1.29;1.3	5.62	5.62	0.85841	.	.	.	.	.	T	0.66228	0.2768	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.69187	-0.5211	9	0.28530	T	0.3	.	15.8286	0.78733	1.0:0.0:0.0:0.0	.	752;752	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	752	ENSP00000364887:Q752L;ENSP00000381167:Q752L	ENSP00000364887:Q752L	Q	+	2	0	DYNC2H1	102511483	1.000000	0.71417	0.928000	0.36995	0.794000	0.44872	8.962000	0.93254	2.141000	0.66446	0.460000	0.39030	CAA		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103006273	A	T	103006273	3	4	14	1	0	0	0	0	1	0	0	0	4846	130	5	5	2317	5	DYNC2H1	11	103006273	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	24729022	103006273	32000243	48	1058											
TAS2R43	259289	mdanderson.org	37	chr12	11244602	11244602	+	Missense_Mutation	SNP	T	T	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	tagttcttacttctacactaTtaaaagctggattcaacaca	14	14	4	9	0	3	0	1	0	2	0	3	1	3	1	0	1	4	2	0	1	7	8	rs11535673		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr12:11244602T>C	ENST00000531678.1	-	1	310	c.227A>G	c.(226-228)aAt>aGt	p.N76S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	76					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)		TTCTACACTATTAAAAGCTGG	0.398																																						.											0													51	44	46					12																	11244602		1916	3972	5888	SO:0001583	missense	259289			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.227A>G	12.37:g.11244602T>C	ENSP00000431719:p.Asn76Ser		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	1.580	-0.531857	0.04112	.	.	ENSG00000255374	ENST00000531678	T	0.36340	1.26	1.97	0.726	0.18248	.	.	.	.	.	T	0.09598	0.0236	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.28744	-1.0034	9	0.30854	T	0.27	.	3.8604	0.08993	0.0:0.2087:0.0:0.7913	.	76	P59537	T2R43_HUMAN	S	76	ENSP00000431719:N76S	ENSP00000431719:N76S	N	-	2	0	TAS2R43	11135869	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.684000	0.05173	0.041000	0.15688	0.155000	0.16302	AAT		0.398	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		C	11244602	T	C	11244602	3	2	14	1	0	0	0	0	1	0	0	0	15578	1493	52	4	706	4	TAS2R43	12	11244602	Missense_Mutation	SNP	T	TCGA-KL-8336-01A-11D-2310-10		11244602	122607293	49	1059											
KRT84	3890	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr12	52774146	52774146	+	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	tgctggactgagagtactcaCcggctctcctcgccctccag	6	9	10	16	2	2	1	1	1	1	1	5	3	3	2	4	2	2	3	4	2	1	1			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr12:52774146C>T	ENST00000257951.3	-	7	1491		c.e7+1		RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84						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)		AGAGTACTCACCGGCTCTCCT	0.557											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													32	33	33					12																	52774146		2201	4296	6497	SO:0001630	splice_region_variant	3890			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.1424+1G>A	12.37:g.52774146C>T		987	B2RA43|Q6ISB0|Q701L6	Splice_Site	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888892	0.33348	.	.	ENSG00000161849	ENST00000257951	.	.	.	4.89	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.513	0.75798	0.0:0.8617:0.1383:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT84	51060413	1.000000	0.71417	0.989000	0.46669	0.293000	0.27360	3.815000	0.55651	1.276000	0.44395	0.655000	0.94253	.		0.557	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	Intron	T	52774146	C	T	52774146	5	4	14	1	0	0	0	0	0	0	1	0	8498	521	18	3	389	3	KRT84	12	52774146	Splice_Site	SNP	C	TCGA-KL-8336-01A-11D-2310-10	41529544	52774146	81077749	50	1060											
PPFIA2	8499	broad.mit.edu	37	chr12	81657079	81657079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctggtaatgtttctgAggacccaggcatcatgctga	9	11	11	10	0	2	2	1	2	1	0	3	3	3	3	2	3	2	5	2	3	1	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr12:81657079A>G	ENST00000549396.1	-	31	3806	c.3646T>C	c.(3646-3648)Tca>Cca	p.S1216P	PPFIA2_ENST00000549325.1_Missense_Mutation_p.S1201P|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S1115P|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S752P|PPFIA2_ENST00000541017.1_Missense_Mutation_p.S402P|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S1216P|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S1204P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S1195P|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S1210P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S1063P|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S1111P	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	1216					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						AATGTTTCTGAGGACCCAGGC	0.458																																						.											0													125	119	121					12																	81657079		1959	4156	6115	SO:0001583	missense	8499			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.3646T>C	12.37:g.81657079A>G	ENSP00000450337:p.Ser1216Pro		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687202	0.48097	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.32515	2.19;2.19;1.87;1.45;1.84;2.19;2.2;1.87;2.17	5.23	4.01	0.46588	.	0.240193	0.34338	N	0.004060	T	0.18882	0.0453	N	0.19112	0.55	0.44555	D	0.997519	P	0.36048	0.534	B	0.31686	0.134	T	0.08889	-1.0700	10	0.62326	D	0.03	-10.3439	11.7843	0.52032	0.8531:0.1469:0.0:0.0	.	1216	O75334	LIPA2_HUMAN	P	1216;1201;752;402;1115;1229;1204;1210;1111;1195	ENSP00000450337:S1216P;ENSP00000450298:S1201P;ENSP00000438337:S752P;ENSP00000445532:S402P;ENSP00000385093:S1115P;ENSP00000327416:S1204P;ENSP00000449338:S1210P;ENSP00000388373:S1111P;ENSP00000447868:S1195P	ENSP00000327416:S1204P	S	-	1	0	PPFIA2	80181210	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	3.011000	0.49567	1.984000	0.57885	0.528000	0.53228	TCA		0.458	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			G	81657079	A	G	81657079	3	3	14	1	0	0	0	0	1	0	0	0	12310	304	11	2	135	2	PPFIA2	12	81657079	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	28882933	81657079	52194816	51	1061											
MGA	23269	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr15	42003374	42003374	+	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	ttccaaagcagattagtttgCggcaggcacagcagcagcag	12	7	12	10	1	0	1	0	0	0	1	1	1	1	1	1	2	5	7	1	2	2	3	rs372252914		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr15:42003374C>T	ENST00000570161.1	+	7	2911	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	MGA_ENST00000389936.4_Missense_Mutation_p.R971W|MGA_ENST00000545763.1_Missense_Mutation_p.R971W|MGA_ENST00000219905.7_Missense_Mutation_p.R971W|MGA_ENST00000566586.1_Missense_Mutation_p.R971W			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)	GATTAGTTTGCGGCAGGCACA	0.458																																						.											0								C	TRP/ARG,TRP/ARG	0,4038		0,0,2019	63	67	66		2911,2911	3.7	1	15		66	1,8411		0,1,4205	no	missense,missense	MGA	NM_001080541.2,NM_001164273.1	101,101	0,1,6224	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	971/2857,971/3066	42003374	1,12449	2019	4206	6225	SO:0001583	missense	23269			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.2911C>T	15.37:g.42003374C>T	ENSP00000457035:p.Arg971Trp		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634468	0.67130	0.0	1.19E-4	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.17691	2.26;2.26;2.26	5.83	3.74	0.42951	.	0.665977	0.13693	N	0.369363	T	0.28566	0.0707	N	0.24115	0.695	0.26692	N	0.971333	D;D	0.89917	0.999;1.0	D;D	0.69479	0.963;0.964	T	0.21724	-1.0237	10	0.87932	D	0	.	15.5704	0.76330	0.3449:0.6551:0.0:0.0	.	971;971	F5H7K2;E7ENI0	.;.	W	971	ENSP00000219905:R971W;ENSP00000374586:R971W;ENSP00000442467:R971W	ENSP00000219905:R971W	R	+	1	2	MGA	39790666	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.467000	0.35321	1.453000	0.47775	0.650000	0.86243	CGG		0.458	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		T	42003374	C	T	42003374	3	4	14	1	0	0	0	0	1	0	0	0	9540	759	27	1	2937	1	MGA	15	42003374	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		42003374	60528018	52	1062											
HAPLN3	145864	broad.mit.edu	37	chr15	89421386	89421386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaacttccaggcggcaaAgagctgtcccaccttggcga	10	7	12	12	2	0	1	0	0	0	1	2	3	2	2	3	4	2	2	3	4	2	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr15:89421386A>G	ENST00000359595.3	-	5	1112	c.898T>C	c.(898-900)Ttt>Ctt	p.F300L	HAPLN3_ENST00000562889.1_Missense_Mutation_p.F362L	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	300	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)	CAGGCGGCAAAGAGCTGTCCC	0.627																																						.											0													159	147	151					15																	89421386		2200	4299	6499	SO:0001583	missense	145864			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.898T>C	15.37:g.89421386A>G	ENSP00000352606:p.Phe300Leu		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	A	34	5.368382	0.95900	.	.	ENSG00000140511	ENST00000359595	T	0.07688	3.17	4.7	4.7	0.59300	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.057786	0.64402	D	0.000001	T	0.13543	0.0328	L	0.52573	1.65	0.49687	D	0.999819	P;P	0.47604	0.898;0.898	P;P	0.47251	0.542;0.542	T	0.00978	-1.1493	10	0.72032	D	0.01	-10.134	13.3187	0.60421	1.0:0.0:0.0:0.0	.	300;300	A8K7T8;Q96S86	.;HPLN3_HUMAN	L	300	ENSP00000352606:F300L	ENSP00000352606:F300L	F	-	1	0	HAPLN3	87222390	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.817000	0.91985	1.871000	0.54225	0.533000	0.62120	TTT		0.627	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		G	89421386	A	G	89421386	3	3	14	1	0	0	0	0	1	0	0	0	6956	72	3	2	188	2	HAPLN3	15	89421386	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	47418012	89421386	13110006	53	1063											
ZNF785	146540	ucsc.edu;bcgsc.ca	37	chr16	30596805	30596805	+	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	gcgctggccgcaggcattccCactcctcgggagagaagtac	8	6	13	14	3	0	1	0	0	0	1	3	3	2	2	3	3	1	4	3	3	2	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr16:30596805C>T	ENST00000395216.2	-	1	287	c.128G>A	c.(127-129)tGg>tAg	p.W43*	ZNF785_ENST00000470110.1_Nonsense_Mutation_p.W43*|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CAGGCATTCCCACTCCTCGGG	0.746																																						.											0													16	18	17					16																	30596805		2192	4292	6484	SO:0001587	stop_gained	146540			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.128G>A	16.37:g.30596805C>T	ENSP00000378642:p.Trp43*		O75701|Q8IW91|Q8WV14|Q96MN0	Nonsense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.691809	0.48097	.	.	ENSG00000197162	ENST00000470110;ENST00000395216	.	.	.	4.56	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6933	0.28579	0.1762:0.4848:0.339:0.0	.	.	.	.	X	43	.	ENSP00000378642:W43X	W	-	2	0	ZNF785	30504306	0.002000	0.14202	0.014000	0.15608	0.180000	0.23129	0.325000	0.19628	0.140000	0.18849	0.586000	0.80456	TGG		0.746	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		T	30596805	C	T	30596805	4	4	14	1	0	0	0	0	0	1	0	0	18154	595	21	4	1101	4	ZNF785	16	30596805	Nonsense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10		30596805	59757948	54	1064											
ARMC5	79798	bcgsc.ca	37	chr16	31476458	31476458	+	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	taactctagatgcagccccgCgcccaggatctgggctggtc	7	8	12	14	2	2	1	0	0	2	1	3	2	2	2	3	3	3	2	3	3	2	2	rs11150624	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr16:31476458C>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000457010.2_Missense_Mutation_p.A705V|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|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						TGCAGCCCCGCGCCCAGGATC	0.622													C|||	1523	0.304113	0.0507	0.5735	5008	,	,		20389	0.4494		0.4463	False		,,,				2504	0.1595					.											0								C	,VAL/ALA	443,3739		26,391,1674	49	55	53		,2114	-7.3	0	16	dbSNP_120	53	3593,4857		780,2033,1412	yes	intron,missense	ARMC5	NM_001105247.1,NM_024742.2	,64	806,2424,3086	TT,TC,CC		42.5207,10.593,31.9506	,	,705/726	31476458	4036,8596	2091	4225	6316	SO:0001627	intron_variant	79798			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+250C>T	16.37:g.31476458C>T			Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	858	0.39285714285714285	28	0.056910569105691054	209	0.5773480662983426	277	0.48426573426573427	344	0.45382585751978893	C	8.087	0.773579	0.16051	0.10593	0.425207	ENSG00000140691	ENST00000457010	T	0.21543	2.0	3.63	-7.27	0.01461	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.20261	0.043	B	0.14578	0.011	T	0.45101	-0.9284	6	.	.	.	.	4.3423	0.11115	0.1614:0.4832:0.2508:0.1046	rs11150624;rs56855049;rs11150624	704	Q96C12-4	.	V	705	ENSP00000399561:A705V	.	A	+	2	0	ARMC5	31383959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.168000	0.03123	-1.705000	0.01406	-1.359000	0.01217	GCG		0.622	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		T	31476458	C	T	31476458	1	4	14	0	1	0	0	0	0	0	0	0	954	768	27	1		1	ARMC5	16	31476458	Intron	SNP	C	TCGA-KL-8336-01A-11D-2310-10	879653	31476458	58878295	55	1065											
VPS53	55275	ucsc.edu	37	chr17	617869	617869	+	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	ggcggaacgcttacctgctcGatggccagctgcacctcggg	6	7	14	14	4	0	0	0	0	0	0	2	2	0	1	3	4	5	4	3	4	2	1	rs11558129	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:617869G>A	ENST00000571805.1	-	1	217	c.81C>T	c.(79-81)atC>atT	p.I27I	VPS53_ENST00000574029.1_Silent_p.I27I|VPS53_ENST00000401468.3_Silent_p.I27I|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000291074.5_Silent_p.I27I|VPS53_ENST00000437048.2_Silent_p.I27I			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	27				I -> V (in Ref. 3; ABW03005). {ECO:0000305}.	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)		TTACCTGCTCGATGGCCAGCT	0.711													G|||	728	0.145367	0.0265	0.2435	5008	,	,		11887	0.0248		0.2356	False		,,,				2504	0.2679					.											0								G	,	240,4166	139.2+/-174.8	5,230,1968	56	57	57		81,81	0.7	1	17	dbSNP_120	57	2133,6467	361.9+/-332.5	268,1597,2435	no	coding-synonymous,coding-synonymous	VPS53	NM_001128159.2,NM_018289.3	,	273,1827,4403	AA,AG,GG		24.8023,5.4471,18.2454	,	27/833,27/671	617869	2373,10633	2203	4300	6503	SO:0001819	synonymous_variant	55275				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.81C>T	17.37:g.617869G>A			A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37																																																																																					0.711	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		A	617869	G	A	617869	2	1	14	1	0	0	0	0	0	0	0	1	17212	1048	37	1		1	VPS53	17	617869	Silent	SNP	G	TCGA-KL-8336-01A-11D-2310-10		617869	80577341	56	1066											
ZZEF1	23140	broad.mit.edu	37	chr17	4046184	4046184	+	Frame_Shift_Del	DEL	C	C	-																															ctgctgtgactcggagcgttCcccatggggtctccgtcttg																										TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:4046184delC	ENST00000381638.2	-	1	130	c.6delG	c.(4-6)gggfs	p.G2fs	CYB5D2_ENST00000573984.1_5'Flank|ZZEF1_ENST00000574474.1_5'UTR|CYB5D2_ENST00000575251.1_5'Flank|CYB5D2_ENST00000301391.3_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2							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						TCGGAGCGTTCCCCATGGGGT	0.741																																						.											0													3	3	3					17																	4046184		1755	3358	5113	SO:0001589	frameshift_variant	23140			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.6delG	17.37:g.4046184delC	ENSP00000371051:p.Gly2fs		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Del	DEL	ENST00000381638.2	37	CCDS11043.1																																																																																				0.741	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		-	4046184	C	-	4046184	7	5	14	1	0	1	0	1	0	0	0	0	18252	842	30	0	9099	0	ZZEF1	17	4046184	Frame_Shift_Del	DEL	C	TCGA-KL-8336-01A-11D-2310-10	3428315	4046184	77149026	57	1067											
TP53	7157	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7578455	7578455	+	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	ctgcttgtagatggccatggCgcggacgcgggtgccgggcg	4	7	19	11	6	0	1	0	0	0	1	0	2	0	2	2	5	2	2	2	5	1	2			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:7578455C>G	ENST00000269305.4	-	5	664	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000420246.2_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000574684.1_5'Flank	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	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)	ATGGCCATGGCGCGGACGCGG	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	85	Substitution - Missense(34)|Deletion - Frameshift(18)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - In frame(1)	lung(20)|central_nervous_system(18)|oesophagus(8)|liver(6)|stomach(5)|breast(5)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)|thyroid(1)|soft_tissue(1)|pancreas(1)											50	51	50					17																	7578455		2203	4300	6503	SO:0001583	missense	7157	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;	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.475G>C	17.37:g.7578455C>G	ENSP00000269305:p.Ala159Pro		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	16.75	3.209010	0.58343	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.59	2.4	0.29515	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99816	0.9919	M	0.89840	3.065	0.51767	D	0.999938	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.997;0.995;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.986;0.995;0.997;0.996;0.987;0.998	D	0.98681	1.0692	10	0.87932	D	0	-9.0177	6.1221	0.20159	0.0:0.6615:0.1535:0.185	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159P;ENSP00000352610:A159P;ENSP00000269305:A159P;ENSP00000398846:A159P;ENSP00000391127:A159P;ENSP00000391478:A159P;ENSP00000425104:A27P;ENSP00000423862:A66P;ENSP00000424104:A159P	ENSP00000269305:A159P	A	-	1	0	TP53	7519180	1.000000	0.71417	0.149000	0.22428	0.179000	0.23085	4.930000	0.63462	0.333000	0.23563	0.655000	0.94253	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578455	C	G	7578455	3	3	14	1	0	0	0	0	1	0	0	0	16378	768	27	5	823	5	TP53	17	7578455	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	3532271	7578455	73616755	58	1068											
GPR179	440435	ucsc.edu	37	chr17	36483472	36483472	+	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	ccatgggcacacgtcagcggCcctgcccccagtgctgacca	7	5	11	18	2	1	1	1	1	0	0	1	1	1	1	5	2	3	2	5	2	0	0			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:36483472C>A	ENST00000342292.4	-	11	6000	c.5980G>T	c.(5980-5982)Gcc>Tcc	p.A1994S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1994					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)				ACGTCAGCGGCCCTGCCCCCA	0.572																																						.											0													58	58	58					17																	36483472		2022	4189	6211	SO:0001583	missense	440435				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.5980G>T	17.37:g.36483472C>A	ENSP00000345060:p.Ala1994Ser			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.838049	0.32513	.	.	ENSG00000188888	ENST00000342292	T	0.50548	0.74	4.78	-0.835	0.10775	.	2.989320	0.01141	N	0.006215	T	0.35941	0.0949	L	0.52573	1.65	0.09310	N	1	B	0.31910	0.346	B	0.24269	0.052	T	0.07252	-1.0782	10	0.08599	T	0.76	3.1037	6.0046	0.19539	0.0:0.5146:0.1542:0.3312	.	1994	Q6PRD1	GP179_HUMAN	S	1994	ENSP00000345060:A1994S	ENSP00000345060:A1994S	A	-	1	0	GPR179	33736998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.142000	0.16096	-0.259000	0.09432	0.561000	0.74099	GCC		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36483472	C	A	36483472	3	1	14	1	0	0	0	0	1	0	0	0	6674	739	26	5	1127	5	GPR179	17	36483472	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	28905017	36483472	44711738	59	1069											
NPTX1	4884	broad.mit.edu	37	chr17	78449421	78449421	+	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	tgccctcctccagggtgttcAcccgggacagcacctgcctc	5	8	10	18	1	1	0	1	0	0	0	4	1	3	1	6	2	3	2	6	2	0	1			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr17:78449421A>C	ENST00000306773.4	-	2	699	c.542T>G	c.(541-543)gTg>gGg	p.V181G	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	181					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CAGGGTGTTCACCCGGGACAG	0.632																																						.											0													49	40	43					17																	78449421		2201	4299	6500	SO:0001583	missense	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.542T>G	17.37:g.78449421A>C	ENSP00000307549:p.Val181Gly		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538851	0.45176	.	.	ENSG00000171246	ENST00000306773	T	0.12147	2.71	3.7	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	M	0.77313	2.365	0.80722	D	1	D	0.54047	0.964	P	0.49140	0.601	T	0.08229	-1.0732	10	0.72032	D	0.01	-23.0712	11.7908	0.52068	1.0:0.0:0.0:0.0	.	181	Q15818	NPTX1_HUMAN	G	181	ENSP00000307549:V181G	ENSP00000307549:V181G	V	-	2	0	NPTX1	76064016	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.641000	0.67881	1.682000	0.51000	0.459000	0.35465	GTG		0.632	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			C	78449421	A	C	78449421	3	2	14	1	0	0	0	0	1	0	0	0	10602	159	6	5	772	5	NPTX1	17	78449421	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	41965949	78449421	2745789	60	1070											
ANKRD30B	374860	mdanderson.org	37	chr18	14779986	14779986	+	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	gttcccatcagaatccaaacGagaggaagatgaagaatatt	17	8	9	7	1	1	5	1	1	0	4	3	7	3	6	2	1	1	1	2	1	6	3	rs76927023		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr18:14779986G>A	ENST00000358984.4	+	11	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284																																						.											0													169	160	163					18																	14779986		692	1591	2283	SO:0001583	missense	374860			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.1448G>A	18.37:g.14779986G>A	ENSP00000351875:p.Arg483Gln		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.092170	0.00364	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.36520	1.51;1.25	1.69	0.451	0.16629	.	.	.	.	.	T	0.09905	0.0243	N	0.00926	-1.1	0.09310	N	1	B	0.23854	0.092	B	0.08055	0.003	T	0.28138	-1.0053	9	0.22109	T	0.4	.	3.9288	0.09275	0.7996:0.0:0.2004:0.0	.	483	F8WAG3	.	Q	483	ENSP00000351875:R483Q;ENSP00000399031:R483Q	ENSP00000351875:R483Q	R	+	2	0	ANKRD30B	14769986	0.999000	0.42202	0.002000	0.10522	0.094000	0.18550	1.139000	0.31504	0.127000	0.18452	-1.326000	0.01283	CGA		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		A	14779986	G	A	14779986	3	1	14	1	0	0	0	0	1	0	0	0	659	1058	37	1	1490	1	ANKRD30B	18	14779986	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10		14779986	63297262	61	1071											
DSC3	1825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr18	28611062	28611062	+	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	gccctggctgtgtacactgaCccatcatttagaactctgaa	10	11	8	12	0	2	3	1	2	1	1	2	3	2	3	2	1	2	2	2	1	4	3			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr18:28611062C>A	ENST00000360428.4	-	3	311	c.231G>T	c.(229-231)ggG>ggT	p.G77G	DSC3_ENST00000434452.1_Silent_p.G77G	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	77					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTACACTGACCCATCATTTA	0.418																																						.											0													72	64	67					18																	28611062		2203	4300	6503	SO:0001819	synonymous_variant	1825			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.231G>T	18.37:g.28611062C>A			A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	CCDS32810.1																																																																																				0.418	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		A	28611062	C	A	28611062	2	1	14	1	0	0	0	0	0	0	0	1	4767	494	18	5		5	DSC3	18	28611062	Silent	SNP	C	TCGA-KL-8336-01A-11D-2310-10	13831076	28611062	49466186	62	1072											
DAZAP1	26528	ucsc.edu	37	chr19	1432574	1432574	+	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	gcccctccgggggttcctccTccaccagccactcccggggc	3	6	11	21	2	0	0	0	0	0	0	5	0	5	0	9	4	1	1	9	4	0	1	rs201283349	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:1432574T>C	ENST00000233078.4	+	11	1094	c.933T>C	c.(931-933)ccT>ccC	p.P311P	DAZAP1_ENST00000336761.6_Silent_p.P311P	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	311	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		GGGTTCCTCCTCCACCAGCCA	0.647																																						.											0													63	73	70					19																	1432574		2203	4300	6503	SO:0001819	synonymous_variant	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.933T>C	19.37:g.1432574T>C			Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	CCDS12065.1																																																																																				0.647	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		C	1432574	T	C	1432574	2	2	14	1	0	0	0	0	0	0	0	1	4244	1538	54	2		2	DAZAP1	19	1432574	Silent	SNP	T	TCGA-KL-8336-01A-11D-2310-10		1432574	57696409	63	1073											
PLIN4	729359	mdanderson.org	37	chr19	4512156	4512156	+	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	ggcgacattcactgcccccaCgagcccagtagtcactgtgt	8	8	10	15	2	2	0	2	0	0	0	2	2	2	0	3	1	2	1	3	1	1	2	rs112356938	byFrequency	TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:4512156C>T	ENST00000301286.3	-	3	1773	c.1774G>A	c.(1774-1776)Gtg>Atg	p.V592M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	592	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.V520M(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCACGAGCCCAGTA	0.602																																						.											1	Substitution - Missense(1)	skin(1)											244	261	255					19																	4512156		2116	4235	6351	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1774G>A	19.37:g.4512156C>T	ENSP00000301286:p.Val592Met		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492727	0.26774	.	.	ENSG00000167676	ENST00000301286	T	0.05717	3.4	5.1	-0.9	0.10544	.	1.053640	0.07562	N	0.917246	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	P	0.52170	0.951	B	0.37198	0.243	T	0.31138	-0.9954	10	0.48119	T	0.1	.	0.7342	0.00962	0.2575:0.1531:0.1331:0.4562	.	592	Q96Q06	PLIN4_HUMAN	M	592	ENSP00000301286:V592M	ENSP00000301286:V592M	V	-	1	0	PLIN4	4463156	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.480000	0.22244	-0.303000	0.08856	-0.374000	0.07098	GTG		0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4512156	C	T	4512156	3	4	14	1	0	0	0	0	1	0	0	0	12092	536	19	1	2315	1	PLIN4	19	4512156	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	3079582	4512156	54616827	64	1074											
PNPLA6	10908	bcgsc.ca	37	chr19	7607524	7607524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgtccctgcaggaagagGcctccggggggtccctggca	5	6	16	14	2	0	1	0	0	0	1	3	2	3	2	5	6	1	2	5	6	1	0			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:7607524G>T	ENST00000221249.6	+	14	1644	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S	PNPLA6_ENST00000414982.3_Missense_Mutation_p.A453S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A405S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.A405S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A444S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	444					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						GCAGGAAGAGGCCTCCGGGGG	0.711																																						.											0													24	29	27					19																	7607524		2198	4295	6493	SO:0001583	missense	10908			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.1213G>T	19.37:g.7607524G>T	ENSP00000221249:p.Ala405Ser		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639407	0.14386	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.03920	3.78;3.84;3.76;3.78	5.24	4.15	0.48705	.	0.433679	0.26711	N	0.022882	T	0.01124	0.0037	N	0.00368	-1.59	0.34573	D	0.713646	B;B;B;B	0.12013	0.005;0.002;0.004;0.002	B;B;B;B	0.12837	0.006;0.006;0.008;0.004	T	0.39522	-0.9610	10	0.08599	T	0.76	.	5.84	0.18629	0.1648:0.0:0.8352:0.0	.	444;405;444;405	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	S	405;405;453;342;405	ENSP00000221249:A405S;ENSP00000443323:A405S;ENSP00000407509:A453S;ENSP00000394348:A405S	ENSP00000221249:A405S	A	+	1	0	PNPLA6	7513524	0.992000	0.36948	1.000000	0.80357	0.665000	0.39181	1.552000	0.36244	2.445000	0.82738	0.655000	0.94253	GCC		0.711	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7607524	G	T	7607524	3	4	14	1	0	0	0	0	1	0	0	0	12169	1203	42	5	1403	5	PNPLA6	19	7607524	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	3095368	7607524	51521459	65	1075											
S1PR5	53637	bcgsc.ca	37	chr19	10625364	10625364	+	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	acgcctccctcccgtgcgaaCcagagcgcgggggacagttt	7	6	13	15	5	0	1	0	0	0	1	2	3	2	2	4	2	3	1	4	2	1	1			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:10625364C>T	ENST00000439028.3	-	2	449	c.324G>A	c.(322-324)tgG>tgA	p.W108*	S1PR5_ENST00000333430.4_Nonsense_Mutation_p.W108*	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	108					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)	CCCGTGCGAACCAGAGCGCGG	0.697																																						.											0													13	16	15					19																	10625364		2189	4294	6483	SO:0001587	stop_gained	53637			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.324G>A	19.37:g.10625364C>T	ENSP00000416915:p.Trp108*		Q6NW11	Nonsense_Mutation	SNP	ENST00000439028.3	37	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	c	31	5.059320	0.93846	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	.	.	.	4.11	3.06	0.35304	.	0.151751	0.47852	U	0.000206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7323	0.57204	0.0:0.8325:0.1675:0.0	.	.	.	.	X	108	.	ENSP00000328472:W108X	W	-	3	0	S1PR5	10486364	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.481000	0.81124	0.935000	0.37341	0.306000	0.20318	TGG		0.697	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		T	10625364	C	T	10625364	4	4	14	1	0	0	0	0	0	1	0	0	13797	508	18	3	876	3	S1PR5	19	10625364	Nonsense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	3017840	10625364	48503619	66	1076											
ZNF799	90576	mdanderson.org	37	chr19	12501852	12501852	+	Missense_Mutation	SNP	C	C	T																															gaaatcaataaaggctttccCacatttgcatttatagggtt																								rs200077318		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:12501852C>T	ENST00000430385.3	-	4	1560	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.G422R	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	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)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAGGCTTTCCCACATTTGCAT	0.383																																						.											0													75	80	78					19																	12501852		2202	4299	6501	SO:0001583	missense	90576			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.1360G>A	19.37:g.12501852C>T	ENSP00000411084:p.Gly454Arg			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033438	0.54896	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.21361	2.01;2.01	1.31	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27349	0.0671	M	0.86097	2.795	0.31959	N	0.608702	B	0.19200	0.034	B	0.28849	0.095	T	0.34179	-0.9839	9	0.72032	D	0.01	.	5.5527	0.17099	0.0:0.6435:0.0:0.3565	.	454	Q96GE5	ZN799_HUMAN	R	422;454	ENSP00000415278:G422R;ENSP00000411084:G454R	ENSP00000415278:G422R	G	-	1	0	ZNF799	12362852	0.004000	0.15560	0.000000	0.03702	0.966000	0.64601	1.363000	0.34159	-0.271000	0.09272	0.430000	0.28490	GGG		0.383	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12501852	C	T	12501852	3	4	14	1	0	0	0	0	1	0	0	0	18163	594	21	4	575	4	ZNF799	19	12501852	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	1876488	12501852	46627131	67	1077	32	2									
ZNF799	90576	mdanderson.org	37	chr19	12501855	12501855	+	Missense_Mutation	SNP	A	A	G																															atcaataaaggctttcccacAtttgcatttatagggtttct																								rs201077492|rs79480756		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:12501855A>G	ENST00000430385.3	-	4	1557	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.C421R	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																																						.											0													76	81	79					19																	12501855		2202	4299	6501	SO:0001583	missense	90576			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			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	14	1	0	0	0	0	1	0	0	0	18163	217	8	4	578	4	ZNF799	19	12501855	Missense_Mutation	SNP	A	TCGA-KL-8336-01A-11D-2310-10	3	12501855	46627128	68	1078	32	2									
FFAR3	2865	mdanderson.org	37	chr19	35850829	35850829	+	Missense_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	ccaggtggcctgtgctgaaaGctaggtcctccgggggagga	7	7	17	10	1	0	1	0	1	0	0	2	3	2	3	4	6	2	2	4	6	2	1	rs201080710		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:35850829G>A	ENST00000327809.4	+	2	1238	c.1037G>A	c.(1036-1038)aGc>aAc	p.S346N	FFAR3_ENST00000594310.1_Missense_Mutation_p.S346N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	346			S -> N. {ECO:0000269|PubMed:19630535}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|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 glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGTGCTGAAAGCTAGGTCCTC	0.632																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	.											0													29	25	26					19																	35850829		2199	4279	6478	SO:0001583	missense	2865			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.1037G>A	19.37:g.35850829G>A	ENSP00000328230:p.Ser346Asn		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	9.237	1.037199	0.19669	.	.	ENSG00000185897	ENST00000327809	T	0.65364	-0.15	3.72	-0.0966	0.13636	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.22591	-1.0212	8	0.41790	T	0.15	.	3.1652	0.06533	0.1058:0.1734:0.5425:0.1782	.	346	O14843	FFAR3_HUMAN	N	346	ENSP00000328230:S346N	ENSP00000328230:S346N	S	+	2	0	FFAR3	40542669	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.022000	0.12480	-0.163000	0.10946	0.455000	0.32223	AGC		0.632	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		A	35850829	G	A	35850829	3	1	14	1	0	0	0	0	1	0	0	0	5829	971	34	4	1039	4	FFAR3	19	35850829	Missense_Mutation	SNP	G	TCGA-KL-8336-01A-11D-2310-10	23348974	35850829	23278154	69	1079											
ZNF836	162962	mdanderson.org;bcgsc.ca	37	chr19	52660631	52660631	+	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	aatttatttcaccatctttcCattgaaactcaaggtcctgt	11	16	4	10	0	3	1	2	1	1	0	5	1	5	1	3	1	1	0	3	1	4	5			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr19:52660631C>T	ENST00000322146.8	-	5	826	c.305G>A	c.(304-306)tGg>tAg	p.W102*	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.W102*	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	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)|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						ACCATCTTTCCATTGAAACTC	0.323																																						.											0													97	89	91					19																	52660631		1928	4149	6077	SO:0001587	stop_gained	162962			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.305G>A	19.37:g.52660631C>T	ENSP00000325038:p.Trp102*			Nonsense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380885	0.95945	.	.	ENSG00000196267	ENST00000322146	.	.	.	2.06	0.971	0.19698	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	4.5989	0.12343	0.0:0.7965:0.0:0.2035	.	.	.	.	X	102	.	ENSP00000325038:W102X	W	-	2	0	ZNF836	57352443	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.030000	0.12308	0.204000	0.20548	0.485000	0.47835	TGG		0.323	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		T	52660631	C	T	52660631	4	4	14	1	0	0	0	0	0	1	0	0	18184	595	21	4	2507	4	ZNF836	19	52660631	Nonsense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	16809802	52660631	6468352	70	1080											
PANX2	56666	broad.mit.edu	37	chr22	50616699	50616699	+	Frame_Shift_Del	DEL	T	T	-																															tctccctggacgtgcaccccTacatcctcggcaccaagaag																										TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chr22:50616699delT	ENST00000395842.2	+	2	1558	c.1558delT	c.(1558-1560)tacfs	p.Y520fs	PANX2_ENST00000159647.5_Frame_Shift_Del_p.Y520fs	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	520					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)		CGTGCACCCCTACATCCTCGG	0.776																																						.											0													3	3	3					22																	50616699		1646	3384	5030	SO:0001589	frameshift_variant	56666				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.1558delT	22.37:g.50616699delT	ENSP00000379183:p.Tyr520fs		B7Z684|Q96RD5|Q9UGX8	Frame_Shift_Del	DEL	ENST00000395842.2	37	CCDS14085.2																																																																																				0.776	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		-	50616699	T	-	50616699	7	5	14	1	0	1	0	1	0	0	0	0	11421	1522	53	0	1564	0	PANX2	22	50616699	Frame_Shift_Del	DEL	T	TCGA-KL-8336-01A-11D-2310-10		50616699	687867	71	1081											
ARSE	415	hgsc.bcm.edu	37	chrX	2867365	2867365	+	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	cttttgagaaaggacgcaacCtcctgcagaataaggggtgt	12	9	12	8	1	0	2	0	1	0	2	1	4	1	3	2	3	2	2	2	3	4	3			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrX:2867365C>T	ENST00000381134.3	-	6	900	c.834G>A	c.(832-834)gaG>gaA	p.E278E	ARSE_ENST00000540563.1_Silent_p.E233E|ARSE_ENST00000545496.1_Silent_p.E303E	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	278					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGACGCAACCTCCTGCAGAA	0.488																																						.											0													65	56	59					X																	2867365		2203	4300	6503	SO:0001819	synonymous_variant	415			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.834G>A	X.37:g.2867365C>T			Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	CCDS14122.1																																																																																				0.488	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		T	2867365	C	T	2867365	2	4	14	1	0	0	0	0	0	0	0	1	990	680	24	4		4	ARSE	23	2867365	Silent	SNP	C	TCGA-KL-8336-01A-11D-2310-10		2867365	152403195	72	1082											
DCAF8L2	347442	hgsc.bcm.edu	37	chrX	27765387	27765407	+	In_Frame_Del	DEL	GGAGGAGGAGGAAGAGGAGGA	GGAGGAGGAGGAAGAGGAGGA	-																															gagatacaagaggagggaggGgaggaggaggaagaggagga																								rs371896121		TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	GGAGGAGGAGGAAGAGGAGGA	GGAGGAGGAGGAAGAGGAGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrX:27765387_27765407delGGAGGAGGAGGAAGAGGAGGA	ENST00000451261.2	+	5	774_794	c.375_395delGGAGGAGGAGGAAGAGGAGGA	c.(373-396)ggggaggaggaggaagaggaggag>ggg	p.EEEEEEE140del		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	140	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggagggaggggaggaggaggaagaggaggaggaggaggag	0.548																																						.											0																																										SO:0001651	inframe_deletion	347442				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.375_395delGGAGGAGGAGGAAGAGGAGGA	X.37:g.27765387_27765407delGGAGGAGGAGGAAGAGGAGGA	ENSP00000462745:p.Glu140_Glu146del		B2RXH9|J3KT06	In_Frame_Del	DEL	ENST00000451261.2	37	CCDS59162.1																																																																																				0.548	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		-	27765407	GGAGGAGGAGGAAGAGGAGGA	-	27765387	7	5	14	1	0	1	0	1	0	0	0	0	4278	1219	43	0	377	0	DCAF8L2	23	27765387	In_Frame_Del	DEL	GGAGGAGGAGGAAGAGGAGGA	TCGA-KL-8336-01A-11D-2310-10	24898022	27765387	127505173	73	1083											
CXorf66	347487	broad.mit.edu	37	chrX	139038180	139038180	+	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	actgtcattcacatgatcacCgtatgcattgttcctggaat	10	14	7	10	1	3	1	3	1	0	0	4	2	4	2	2	1	1	3	2	1	2	4			TCGA-KL-8336-01A-11D-2310-10	TCGA-KL-8336-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e3918e04-066f-49f7-9abd-22d7b896c2a5	cebdaef5-4d74-4bf2-88a3-0be1bd198029	g.chrX:139038180C>T	ENST00000370540.1	-	3	984	c.961G>A	c.(961-963)Ggt>Agt	p.G321S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	321						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACATGATCACCGTATGCATTG	0.388																																						.											0													216	181	193					X																	139038180		2203	4300	6503	SO:0001583	missense	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.961G>A	X.37:g.139038180C>T	ENSP00000359571:p.Gly321Ser			Missense_Mutation	SNP	ENST00000370540.1	37	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	C	0.703	-0.789917	0.02884	.	.	ENSG00000203933	ENST00000370540	T	0.40225	1.04	4.03	-8.05	0.01106	.	3.323370	0.00914	N	0.002512	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.19976	-1.0289	9	.	.	.	11.0958	7.393	0.26921	0.1163:0.2536:0.5352:0.0949	.	321	Q5JRM2	CX066_HUMAN	S	321	ENSP00000359571:G321S	.	G	-	1	0	CXorf66	138865846	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.983000	0.00163	-3.667000	0.00124	-2.703000	0.00135	GGT		0.388	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		T	139038180	C	T	139038180	3	4	14	1	0	0	0	0	1	0	0	0	4118	652	23	1	128	1	CXorf66	23	139038180	Missense_Mutation	SNP	C	TCGA-KL-8336-01A-11D-2310-10	111272793	139038180	16232380	74	1084											
MXRA8	54587	hgsc.bcm.edu;mdanderson.org	37	chr1	1290408	1290408	+	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	tcccagtgcaccacctgttgAgcctcctccacgtgccggtc	5	9	9	18	2	0	1	0	1	0	0	4	1	3	1	7	1	3	2	7	1	0	1	rs147996767	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:1290408A>G	ENST00000309212.6	-	5	633	c.603T>C	c.(601-603)gcT>gcC	p.A201A	MXRA8_ENST00000477278.2_Silent_p.A192A|MXRA8_ENST00000342753.4_Silent_p.A100A|MXRA8_ENST00000445648.2_Silent_p.A201A	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	201	Ig-like V-type 2.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	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;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)		CCACCTGTTGAGCCTCCTCCA	0.751													-|||	361	0.0720847	0.2579	0.0274	5008	,	,		8344	0		0.001	False		,,,				2504	0					.											0										722,3238		65,592,1323	7	9	9		603	-0.7	1	1	dbSNP_134	9	6,7864		0,6,3929	no	coding-synonymous	MXRA8	NM_032348.2		65,598,5252	GG,GA,AA		0.0762,18.2323,6.1538		201/443	1290408	728,11102	1980	3935	5915	SO:0001819	synonymous_variant	54587			BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"Immunoglobulin superfamily / V-set domain containing"	7542	protein-coding gene	gene with protein product	"limitrin"					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.603T>C	1.37:g.1290408A>G			B3KTR6|B4DE34|Q5TA39|Q96KC3	Silent	SNP	ENST00000309212.6	37	CCDS24.1																																																																																				0.751	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		G	1290408	A	G	1290408	2	3	15	1	0	0	0	0	0	0	0	1	10005	291	11	2		2	MXRA8	1	1290408	Silent	SNP	A	TCGA-KL-8337-01A-11D-2310-10		1290408	247960213	1	1085											
NT5C1A	84618	broad.mit.edu	37	chr1	40124870	40124870	+	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	accataaggcacatgggcggCcacagtgcccatctcctgag	10	6	11	14	1	1	1	0	1	1	0	2	1	1	1	4	3	1	1	4	3	1	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:40124870C>A	ENST00000235628.1	-	6	1029	c.1030G>T	c.(1030-1032)Gcc>Tcc	p.A344S		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	344					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACATGGGCGGCCACAGTGCCC	0.597																																						.											0													60	63	62					1																	40124870		2203	4300	6503	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.1030G>T	1.37:g.40124870C>A	ENSP00000235628:p.Ala344Ser		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588502	0.86851	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	N	0.20807	0.61	0.80722	D	1	P	0.39551	0.678	B	0.41619	0.361	T	0.32322	-0.9911	9	0.10902	T	0.67	0.0215	19.6491	0.95794	0.0:1.0:0.0:0.0	.	344	Q9BXI3	5NT1A_HUMAN	S	344	.	ENSP00000235628:A344S	A	-	1	0	NT5C1A	39897457	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	7.792000	0.85828	2.726000	0.93360	0.655000	0.94253	GCC		0.597	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		A	40124870	C	A	40124870	3	1	15	1	0	0	0	0	1	0	0	0	10685	739	26	5	80	5	NT5C1A	1	40124870	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	38834462	40124870	209125751	2	1086											
LPPR5	163404	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	99418744	99418744	+	Missense_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	cttccccactgatgaattgtGtatactgctgacatccaagt	10	13	7	11	0	0	3	0	3	0	0	2	3	2	3	3	0	2	2	3	0	4	4			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:99418744G>A	ENST00000263177.4	-	3	724	c.503C>T	c.(502-504)aCa>aTa	p.T168I	LPPR5_ENST00000370188.3_Missense_Mutation_p.T168I	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		168						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GATGAATTGTGTATACTGCTG	0.463																																						.											0													122	110	114					1																	99418744		2203	4300	6503	SO:0001583	missense	0																														ENST00000263177.4:c.503C>T	1.37:g.99418744G>A	ENSP00000263177:p.Thr168Ile		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912415	0.17907	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.41065	1.01;1.01	4.7	4.7	0.59300	.	0.140387	0.49305	D	0.000157	T	0.14700	0.0355	N	0.11000	0.08	0.35912	D	0.831142	B;B	0.21821	0.05;0.061	B;B	0.22152	0.022;0.038	T	0.04320	-1.0960	10	0.36615	T	0.2	.	16.9952	0.86365	0.0:0.0:1.0:0.0	.	168;168	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	I	168	ENSP00000359207:T168I;ENSP00000263177:T168I	ENSP00000263177:T168I	T	-	2	0	AL161744.1	99191332	0.970000	0.33590	1.000000	0.80357	0.828000	0.46876	3.609000	0.54117	2.300000	0.77407	0.655000	0.94253	ACA		0.463	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			A	99418744	G	A	99418744	3	1	15	1	0	0	0	0	1	0	0	0	8928	1377	48	4	478	4	LPPR5	1	99418744	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	59293874	99418744	149831877	3	1087											
DCST2	127579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	155002604	155002604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagcactgagcggtagcActgtgggcagccctgccgtg	6	7	16	12	3	0	2	0	2	0	0	0	2	0	2	2	2	5	4	2	2	1	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:155002604A>G	ENST00000368424.3	-	7	1191	c.1133T>C	c.(1132-1134)gTg>gCg	p.V378A	DCST2_ENST00000295536.5_Missense_Mutation_p.V378A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	378						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCGGTAGCACTGTGGGCAG	0.622																																						.											0													85	84	84					1																	155002604		2203	4300	6503	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1133T>C	1.37:g.155002604A>G	ENSP00000357409:p.Val378Ala		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497713	0.64186	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.35421	1.31;1.31	4.68	3.54	0.40534	Dendritic cell-specific transmembrane protein-like (1);	0.085942	0.44902	D	0.000406	T	0.38026	0.1025	L	0.55481	1.735	0.38624	D	0.951212	D	0.76494	0.999	D	0.72625	0.978	T	0.29640	-1.0005	10	0.52906	T	0.07	-21.6605	8.4994	0.33148	0.8267:0.0:0.0:0.1733	.	378	Q5T1A1	DCST2_HUMAN	A	378	ENSP00000357409:V378A;ENSP00000295536:V378A	ENSP00000295536:V378A	V	-	2	0	DCST2	153269228	1.000000	0.71417	0.987000	0.45799	0.784000	0.44337	3.656000	0.54467	0.790000	0.33803	0.533000	0.62120	GTG		0.622	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		G	155002604	A	G	155002604	3	3	15	1	0	0	0	0	1	0	0	0	4303	159	6	2	1224	2	DCST2	1	155002604	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	55583860	155002604	94248017	4	1088											
SH2D2A	9047	broad.mit.edu	37	chr1	156777068	156777069	+	Frame_Shift_Ins	INS	-	-	T																															tgtctccaggcgggtgggggINSctggtggggcaggggagggc																										TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:156777068_156777069insT	ENST00000368199.3	-	8	1224_1225	c.1071_1072insA	c.(1069-1074)cagcccfs	p.P358fs	SH2D2A_ENST00000392306.2_Frame_Shift_Ins_p.P368fs|SH2D2A_ENST00000368198.3_Frame_Shift_Ins_p.P340fs	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	358	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGGTGGGGGCTGGTGGGGCA	0.599																																						.											0																																										SO:0001589	frameshift_variant	9047			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.1071_1072insA	1.37:g.156777068_156777069insT	ENSP00000357182:p.Pro358fs		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Frame_Shift_Ins	INS	ENST00000368199.3	37	CCDS1159.1																																																																																				0.599	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		T	156777069	-	T	156777068	7	5	15	1	0	1	1	0	0	0	0	0	14232	1203	42	0	101	0	SH2D2A	1	156777068	Frame_Shift_Ins	INS	-	TCGA-KL-8337-01A-11D-2310-10	1774464	156777068	92473553	5	1089											
SPTA1	6708	ucsc.edu;bcgsc.ca	37	chr1	158641982	158641982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttgttgtcaagtattTccatctttggaaagaaggag	11	14	10	6	0	2	1	1	0	1	1	4	3	4	3	2	2	0	3	2	2	4	5			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:158641982T>C	ENST00000368147.4	-	11	1535	c.1355A>G	c.(1354-1356)gAa>gGa	p.E452G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	452					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)					GTCAAGTATTTCCATCTTTGG	0.363																																						.											0													85	77	79					1																	158641982		1877	4122	5999	SO:0001583	missense	6708			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.1355A>G	1.37:g.158641982T>C	ENSP00000357129:p.Glu452Gly		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226664	0.22542	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36699	1.24;1.24	5.24	-2.0	0.07433	.	1.622580	0.04359	N	0.357116	T	0.08670	0.0215	N	0.20986	0.625	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37314	-0.9711	10	0.23891	T	0.37	.	6.0076	0.19554	0.0654:0.1029:0.3444:0.4873	.	452	P02549	SPTA1_HUMAN	G	452	ENSP00000357130:E452G;ENSP00000357129:E452G	ENSP00000357129:E452G	E	-	2	0	SPTA1	156908606	0.001000	0.12720	0.000000	0.03702	0.172000	0.22775	0.236000	0.17967	-0.560000	0.06102	-1.106000	0.02097	GAA		0.363	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158641982	T	C	158641982	3	2	15	1	0	0	0	0	1	0	0	0	15115	1783	62	4	6072	4	SPTA1	1	158641982	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	1864914	158641982	90608639	6	1090											
ADAMTS4	9507	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	161161010	161161010	+	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	gccagtcctggggagtggggCgtggcgttgaaggggtcggc	4	7	22	8	3	0	1	0	1	0	0	2	2	1	2	2	8	0	1	2	8	1	1	rs148170603		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:161161010C>T	ENST00000367996.5	-	9	2860	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	811	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GGGAGTGGGGCGTGGCGTTGA	0.647																																						.											0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	38	37	37		2432	1.8	0	1	dbSNP_134	37	0,8600		0,0,4300	no	missense	ADAMTS4	NM_005099.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	811/838	161161010	1,13005	2203	4300	6503	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2432G>A	1.37:g.161161010C>T	ENSP00000356975:p.Arg811His		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	8.713	0.912622	0.17907	2.27E-4	0.0	ENSG00000158859	ENST00000367996	T	0.62639	0.01	4.62	1.75	0.24633	.	0.522526	0.18210	N	0.148239	T	0.23370	0.0565	N	0.24115	0.695	0.32533	N	0.534718	P	0.36027	0.533	B	0.29176	0.099	T	0.02173	-1.1201	10	0.45353	T	0.12	.	9.1087	0.36714	0.0:0.7543:0.0:0.2457	.	811	O75173	ATS4_HUMAN	H	811	ENSP00000356975:R811H	ENSP00000356975:R811H	R	-	2	0	ADAMTS4	159427634	0.012000	0.17670	0.003000	0.11579	0.372000	0.29890	0.829000	0.27449	0.289000	0.22422	-0.234000	0.12200	CGC		0.647	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		T	161161010	C	T	161161010	3	4	15	1	0	0	0	0	1	0	0	0	268	768	27	1	85	1	ADAMTS4	1	161161010	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	2519028	161161010	88089611	7	1091											
RGS16	6004	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	182572462	182572462	+	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	aagatccccagacgtgtcttGaactctttggctctgaaaaa	12	11	8	10	1	3	4	0	2	3	2	4	4	4	4	2	1	1	1	2	1	4	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:182572462G>T	ENST00000367558.5	-	2	205	c.57C>A	c.(55-57)ttC>ttA	p.F19L		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	19					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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GACGTGTCTTGAACTCTTTGG	0.483																																						.											0													129	117	121					1																	182572462		2203	4300	6503	SO:0001583	missense	6004			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"Regulators of G-protein signaling"	9997	protein-coding gene	gene with protein product		602514	"regulator of G-protein signalling 16"			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.57C>A	1.37:g.182572462G>T	ENSP00000356529:p.Phe19Leu		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733217	0.15574	.	.	ENSG00000143333	ENST00000367558	T	0.52057	0.68	5.25	4.31	0.51392	.	0.388578	0.29684	N	0.011467	T	0.28995	0.0720	N	0.12637	0.245	0.27994	N	0.935533	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.003	T	0.12066	-1.0562	10	0.20046	T	0.44	.	13.1514	0.59492	0.0:0.3075:0.6925:0.0	.	19;19	B4DVW5;O15492	.;RGS16_HUMAN	L	19	ENSP00000356529:F19L	ENSP00000356529:F19L	F	-	3	2	RGS16	180839085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	1.158000	0.42547	0.561000	0.74099	TTC		0.483	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		T	182572462	G	T	182572462	3	4	15	1	0	0	0	0	1	0	0	0	13298	1281	45	5	567	5	RGS16	1	182572462	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	21411452	182572462	66678159	8	1092											
OR6F1	343169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	247875280	247875280	+	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	atctttgatagaggtgcggaCgtgaaggaaaactgtggacc	12	9	14	6	2	1	3	0	2	1	1	1	6	1	6	1	4	2	0	1	4	4	2	rs145498993		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr1:247875280C>T	ENST00000302084.2	-	1	825	c.778G>A	c.(778-780)Gtc>Atc	p.V260I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	260						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)			GAGGTGCGGACGTGAAGGAAA	0.532																																						.											0								C	ILE/VAL	0,4406		0,0,2203	99	95	96		778	1.7	0	1	dbSNP_134	96	1,8599	2.2+/-6.3	0,1,4299	no	missense	OR6F1	NM_001005286.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	260/309	247875280	1,13005	2203	4300	6503	SO:0001583	missense	343169			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.778G>A	1.37:g.247875280C>T	ENSP00000305640:p.Val260Ile		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	2.854	-0.237700	0.05944	0.0	1.16E-4	ENSG00000169214	ENST00000302084	T	0.36699	1.24	3.72	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.185901	0.25922	N	0.027428	T	0.22437	0.0541	L	0.28694	0.88	0.09310	N	1	B	0.17852	0.024	B	0.17098	0.017	T	0.23048	-1.0199	10	0.18276	T	0.48	-23.4907	8.8577	0.35238	0.0:0.535:0.3724:0.0926	.	260	Q8NGZ6	OR6F1_HUMAN	I	260	ENSP00000305640:V260I	ENSP00000305640:V260I	V	-	1	0	OR6F1	245941903	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.433000	0.01021	0.025000	0.15241	-1.094000	0.02160	GTC		0.532	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		T	247875280	C	T	247875280	3	4	15	1	0	0	0	0	1	0	0	0	11201	536	19	1	152	1	OR6F1	1	247875280	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	65302818	247875280	1375341	9	1093											
USP34	9736	broad.mit.edu	37	chr2	61415632	61415632	+	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	cgaagatggaacttccattcGgtattctttaacagaactat	13	13	7	8	2	1	2	0	0	1	2	3	4	2	3	1	2	3	1	1	2	6	7			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr2:61415632G>T	ENST00000398571.2	-	80	10322	c.10246C>A	c.(10246-10248)Cga>Aga	p.R3416R	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3416					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)			ACTTCCATTCGGTATTCTTTA	0.403																																						.											0													105	97	99					2																	61415632		1906	4136	6042	SO:0001819	synonymous_variant	9736			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.10246C>A	2.37:g.61415632G>T			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	2.169	-0.390428	0.04932	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.52	0.617	0.17619	.	.	.	.	.	T	0.68540	0.3012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68194	-0.5473	4	.	.	.	.	15.2903	0.73862	0.0:0.0:0.3806:0.6194	.	.	.	.	Q	1092	.	.	P	-	2	0	USP34	61269136	1.000000	0.71417	0.986000	0.45419	0.766000	0.43426	2.414000	0.44627	0.294000	0.22547	0.591000	0.81541	CCG		0.403	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61415632	G	T	61415632	2	4	15	1	0	0	0	0	0	0	0	1	17062	1124	39	5		5	USP34	2	61415632	Silent	SNP	G	TCGA-KL-8337-01A-11D-2310-10		61415632	181783741	10	1094											
C2orf78	388960	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	74043649	74043649	+	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	ctcaatcgaatgcagtcaatCcatcccgaccagctcctacc	11	8	5	17	2	2	0	2	0	0	0	6	2	5	0	5	0	3	2	5	0	4	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr2:74043649C>A	ENST00000409561.1	+	3	2420	c.2299C>A	c.(2299-2301)Cca>Aca	p.P767T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	767										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCAGTCAATCCATCCCGACC	0.542																																						.											0													109	114	112					2																	74043649		2119	4237	6356	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2299C>A	2.37:g.74043649C>A	ENSP00000387124:p.Pro767Thr			Missense_Mutation	SNP	ENST00000409561.1	37	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709494	0.30322	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.44482	0.92	5.23	-1.87	0.07737	.	0.889887	0.09394	N	0.808096	T	0.31638	0.0803	L	0.59436	1.845	0.09310	N	1	P	0.38078	0.617	B	0.30855	0.121	T	0.24190	-1.0167	10	0.87932	D	0	0.0072	5.999	0.19509	0.0:0.4846:0.2746:0.2408	.	767	A6NCI8	CB078_HUMAN	T	767;737	ENSP00000387124:P767T	ENSP00000340692:P737T	P	+	1	0	C2orf78	73897157	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.473000	0.02339	-0.235000	0.09767	0.563000	0.77884	CCA		0.542	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		A	74043649	C	A	74043649	3	1	15	1	0	0	0	0	1	0	0	0	2195	855	30	5	2309	5	C2orf78	2	74043649	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	12628017	74043649	169155724	11	1095											
DAZL	1618	broad.mit.edu;mdanderson.org	37	chr3	16633629	16633629	+	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	ttaaacagacaagataccacCgtttgtatgcttcggtccac	12	11	7	11	2	0	2	0	0	0	2	2	2	1	2	3	1	3	3	3	1	5	5			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:16633629C>T	ENST00000399444.2	-	10	1055	c.762G>A	c.(760-762)acG>acA	p.T254T	DAZL_ENST00000250863.8_Silent_p.T274T	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	254					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.T254T(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						AAGATACCACCGTTTGTATGC	0.363																																						.											1	Substitution - coding silent(1)	lung(1)											239	241	241					3																	16633629		2203	4300	6503	SO:0001819	synonymous_variant	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.762G>A	3.37:g.16633629C>T			O15396|Q5HYB4|Q92909	Silent	SNP	ENST00000399444.2	37	CCDS43059.1																																																																																				0.363	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		T	16633629	C	T	16633629	2	4	15	1	0	0	0	0	0	0	0	1	4246	639	23	1		1	DAZL	3	16633629	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10		16633629	181388801	12	1096											
SETD2	29072	broad.mit.edu	37	chr3	47162042	47162042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactgaccccttgtcttTctgaagggatagaagaaatt	11	13	9	8	0	2	4	0	2	2	2	2	5	2	5	2	1	1	1	2	1	4	5			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:47162042T>C	ENST00000409792.3	-	3	4126	c.4084A>G	c.(4084-4086)Aaa>Gaa	p.K1362E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1362					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCCTTGTCTTTCTGAAGGGAT	0.383			"N, F, S, Mis"		clear cell renal carcinoma																																	.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													66	70	68					3																	47162042		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4084A>G	3.37:g.47162042T>C	ENSP00000386759:p.Lys1362Glu		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752143	0.31046	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89050	-2.46;1.39	5.32	4.15	0.48705	.	0.095949	0.45126	D	0.000397	T	0.79387	0.4437	N	0.24115	0.695	0.28142	N	0.929768	B;B	0.27229	0.085;0.172	B;B	0.22386	0.026;0.039	T	0.72308	-0.4332	10	0.66056	D	0.02	.	7.1006	0.25336	0.0:0.0736:0.1495:0.7769	.	1362;1362	F2Z317;Q9BYW2	.;SETD2_HUMAN	E	1362;1362;1362;1318	ENSP00000386759:K1362E;ENSP00000416401:K1318E	ENSP00000386759:K1362E	K	-	1	0	SETD2	47137046	0.567000	0.26626	1.000000	0.80357	0.737000	0.42083	1.203000	0.32284	1.011000	0.39340	0.460000	0.39030	AAA		0.383	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		C	47162042	T	C	47162042	3	2	15	1	0	0	0	0	1	0	0	0	14131	1792	62	4	3686	4	SETD2	3	47162042	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	30528413	47162042	150860388	13	1097											
TMEM108	66000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	133099424	133099424	+	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	agcccaggggggtggttctaCcttcaccagccaaggaggga	9	6	15	11	0	2	0	1	0	1	0	2	2	2	2	4	6	3	1	4	6	2	3			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:133099424C>A	ENST00000321871.6	+	4	1079	c.869C>A	c.(868-870)aCc>aAc	p.T290N	TMEM108_ENST00000393130.3_Missense_Mutation_p.T290N|TMEM108_ENST00000515826.1_Missense_Mutation_p.T290N|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	290						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						GGTGGTTCTACCTTCACCAGC	0.647																																						.											0													37	35	36					3																	133099424		2203	4300	6503	SO:0001583	missense	66000			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.869C>A	3.37:g.133099424C>A	ENSP00000324651:p.Thr290Asn		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	8.898	0.955594	0.18507	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.46451	0.89;0.89;0.87	3.84	1.87	0.25490	.	0.837931	0.10125	N	0.712876	T	0.34337	0.0894	L	0.51422	1.61	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.002	T	0.28364	-1.0046	10	0.33141	T	0.24	-1.9903	6.0362	0.19708	0.3953:0.5047:0.0:0.0999	.	290;290	E9PB58;Q6UXF1	.;TM108_HUMAN	N	290	ENSP00000324651:T290N;ENSP00000376838:T290N;ENSP00000423338:T290N	ENSP00000324651:T290N	T	+	2	0	TMEM108	134582114	0.001000	0.12720	0.001000	0.08648	0.257000	0.26127	1.219000	0.32479	0.298000	0.22638	0.561000	0.74099	ACC		0.647	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133099424	C	A	133099424	3	1	15	1	0	0	0	0	1	0	0	0	16021	507	18	5	875	5	TMEM108	3	133099424	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	85937382	133099424	64923006	14	1098											
FAM43A	131583	broad.mit.edu	37	chr3	194407863	194407863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggagcaagagcgaggcggGccgtcagggcaccaagatga	11	3	17	10	3	1	3	1	1	0	2	1	5	1	4	2	4	2	2	2	4	2	0			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr3:194407863G>T	ENST00000329759.4	+	1	1242	c.308G>T	c.(307-309)gGc>gTc	p.G103V		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	103										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)		AGCGAGGCGGGCCGTCAGGGC	0.682																																						.											0													40	39	39					3																	194407863		2203	4299	6502	SO:0001583	missense	131583			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.308G>T	3.37:g.194407863G>T	ENSP00000371397:p.Gly103Val		A3KME2|Q8IXP4|Q8WZ07	Missense_Mutation	SNP	ENST00000329759.4	37	CCDS33923.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736427	0.89482	.	.	ENSG00000185112	ENST00000329759	T	0.66638	-0.22	5.16	5.16	0.70880	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83152	-0.0103	10	0.87932	D	0	-26.1764	17.6527	0.88169	0.0:0.0:1.0:0.0	.	103	Q8N2R8	FA43A_HUMAN	V	103	ENSP00000371397:G103V	ENSP00000371397:G103V	G	+	2	0	FAM43A	195889152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.316000	0.96319	2.403000	0.81681	0.455000	0.32223	GGC		0.682	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		T	194407863	G	T	194407863	3	4	15	1	0	0	0	0	1	0	0	0	5562	1203	42	5	310	5	FAM43A	3	194407863	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	61308439	194407863	3614567	15	1099											
SRD5A3	79644	broad.mit.edu	37	chr4	56212670	56212671	+	Frame_Shift_Ins	INS	-	-	G																															atccgctatgggaaaaccaaINSgtgtggggagccgtcgcgcc																										TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr4:56212670_56212671insG	ENST00000264228.4	+	1	395_396	c.167_168insG	c.(166-171)aagtgtfs	p.C57fs		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	57					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.K56K(1)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GGGAAAACCAAGTGTGGGGAGC	0.693																																						.											1	Substitution - coding silent(1)	lung(1)																																								SO:0001589	frameshift_variant	79644			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.168dupG	4.37:g.56212671_56212671dupG	ENSP00000264228:p.Cys57fs		Q4W5Q6	Frame_Shift_Ins	INS	ENST00000264228.4	37	CCDS3498.1																																																																																				0.693	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		G	56212671	-	G	56212670	7	5	15	1	0	1	1	0	0	0	0	0	15139	72	3	0	169	0	SRD5A3	4	56212670	Frame_Shift_Ins	INS	-	TCGA-KL-8337-01A-11D-2310-10		56212670	134941606	16	1100											
AREG	374	broad.mit.edu;mdanderson.org	37	chr4	75314901	75314901	+	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	aaaatccatgtaatgcagaaTttcaaaatttctgcattcac	16	13	4	8	0	3	1	2	0	1	1	4	1	4	1	1	0	2	3	1	0	6	4			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr4:75314901T>G	ENST00000395748.3	+	3	660	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V	AREG_ENST00000502307.1_Missense_Mutation_p.F150V|AREG_ENST00000511560.1_3'UTR|AREG_ENST00000264487.2_Missense_Mutation_p.F150V	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	150	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			TAATGCAGAATTTCAAAATTT	0.313																																						.											0													7	8	7					4																	75314901		1825	3986	5811	SO:0001583	missense	374			M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"Endogenous ligands"	651	protein-coding gene	gene with protein product		104640	"schwannoma-derived growth factor", "amphiregulin B"	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.448T>G	4.37:g.75314901T>G	ENSP00000379097:p.Phe150Val		Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134212	0.56828	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.12879	2.64;2.64;2.64	4.94	4.94	0.65067	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.169682	0.53938	D	0.000048	T	0.29256	0.0728	L	0.60455	1.87	0.34369	D	0.691807	D	0.76494	0.999	D	0.80764	0.994	T	0.42120	-0.9470	10	0.66056	D	0.02	-7.351	7.6046	0.28095	0.0:0.0967:0.0:0.9033	.	150	P15514	AREG_HUMAN	V	150	ENSP00000379097:F150V;ENSP00000264487:F150V;ENSP00000421414:F150V	ENSP00000264487:F150V	F	+	1	0	AREG	75533765	0.881000	0.30235	0.997000	0.53966	0.767000	0.43475	3.655000	0.54460	1.974000	0.57490	0.455000	0.32223	TTT		0.313	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			G	75314901	T	G	75314901	3	3	15	1	0	0	0	0	1	0	0	0	843	1493	52	5	458	5	AREG	4	75314901	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	19102231	75314901	115839375	17	1101											
FRG1	2483	mdanderson.org	37	chr4	190873347	190873347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtaacaaactttggtgAaatttcaggaaccatagcca	16	9	8	8	0	1	1	1	1	0	0	1	3	1	2	2	2	4	1	2	2	5	4	rs73024948		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr4:190873347A>G	ENST00000226798.4	+	3	386	c.164A>G	c.(163-165)gAa>gGa	p.E55G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	55					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AACTTTGGTGAAATTTCAGGA	0.333																																						.											0													83	96	92					4																	190873347		2201	4296	6497	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.164A>G	4.37:g.190873347A>G	ENSP00000226798:p.Glu55Gly		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	19.43	3.825859	0.71143	.	.	ENSG00000109536	ENST00000226798	T	0.34859	1.34	3.47	3.47	0.39725	.	0.050175	0.85682	D	0.000000	T	0.43656	0.1257	M	0.83953	2.67	0.80722	D	1	P	0.40578	0.722	B	0.41510	0.359	T	0.53851	-0.8380	10	0.72032	D	0.01	-24.5471	10.6186	0.45465	1.0:0.0:0.0:0.0	.	55	Q14331	FRG1_HUMAN	G	55	ENSP00000226798:E55G	ENSP00000226798:E55G	E	+	2	0	FRG1	191110341	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	6.760000	0.74939	1.815000	0.52974	0.441000	0.28932	GAA		0.333	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873347	A	G	190873347	3	3	15	1	0	0	0	0	1	0	0	0	6046	246	9	4	174	4	FRG1	4	190873347	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	115558446	190873347	280929	18	1102											
HTR4	3360	ucsc.edu	37	chr5	147929716	147929716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgagctgcctgtcccAgcacacagccaccatcacca	10	6	6	19	0	2	1	2	1	0	0	3	1	3	1	6	0	4	2	6	0	0	0			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr5:147929716A>G	ENST00000377888.3	-	3	274	c.136T>C	c.(136-138)Tgg>Cgg	p.W46R	HTR4_ENST00000354217.2_Missense_Mutation_p.W46R|HTR4_ENST00000521530.1_Missense_Mutation_p.W46R|HTR4_ENST00000362016.2_Missense_Mutation_p.W46R|HTR4_ENST00000360693.3_Missense_Mutation_p.W46R|HTR4_ENST00000520514.1_Missense_Mutation_p.W46R|HTR4_ENST00000521735.1_Missense_Mutation_p.W46R|HTR4_ENST00000517929.1_Missense_Mutation_p.W46R|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000314512.6_Missense_Mutation_p.W46R	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	46					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	TGCCTGTCCCAGCACACAGCC	0.542																																					GBM(120;370 1604 14007 17804 41573)	.											0													106	75	86					5																	147929716		2203	4300	6503	SO:0001583	missense	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.136T>C	5.37:g.147929716A>G	ENSP00000367120:p.Trp46Arg		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	A	1.046	-0.677331	0.03378	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.61	0.0268	0.14151	GPCR, rhodopsin-like superfamily (1);	0.139010	0.64402	N	0.000005	T	0.04724	0.0128	N	0.00074	-2.255	0.24527	N	0.994136	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.0;0.0	T	0.44283	-0.9338	10	0.02654	T	1	.	10.5223	0.44927	0.1218:0.0:0.5811:0.297	.	46;46;46;46;46;46;46	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	R	46	ENSP00000428320:W46R;ENSP00000346156:W46R;ENSP00000314906:W46R;ENSP00000430979:W46R;ENSP00000435904:W46R;ENSP00000427913:W46R;ENSP00000367120:W46R;ENSP00000353915:W46R;ENSP00000355037:W46R	ENSP00000314906:W46R	W	-	1	0	HTR4	147909909	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	1.802000	0.38853	-0.202000	0.10268	-1.294000	0.01345	TGG		0.542	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		G	147929716	A	G	147929716	3	3	15	1	0	0	0	0	1	0	0	0	7449	188	7	2	1346	2	HTR4	5	147929716	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10		147929716	32985544	19	1103											
HLA-DRB1	3123	bcgsc.ca	37	chr6	32551957	32551958	+	Missense_Mutation	DNP	GC	GC	CT																															aggtgtccaccgcggcccgcGcctgctccaggatgtccttc																								rs200320734|rs1064592|rs568948309|rs9269942	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:32551957_32551958GC>CT	ENST00000360004.5	-	2	403_404	c.298_299GC>AG	c.(298-300)GCg>AGg	p.A100R		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	100	Beta-1.				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)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CGCGGCCCGCGCCTGCTCCAGG	0.678										Multiple Myeloma(14;0.17)																												.											0																																										SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.298_299delinsCT	6.37:g.32551957_32551958delinsCT	ENSP00000353099:p.Ala100Arg		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																				0.678	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		CT	32551958	GC	CT	32551957	3	2	15	1	0	0	0	0	1	0	0	0	7208	1087	38	5	521	5	HLA-DRB1	6	32551957	Missense_Mutation	DNP	GC	TCGA-KL-8337-01A-11D-2310-10		32551957	138563110	20	1104											
TBCC	6903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	42713337	42713337	+	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	tatgctttcaactgccggggGgatgccaggagccgcgtcta	7	9	14	11	3	2	0	1	0	1	0	2	2	2	2	3	4	5	1	3	4	3	3			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:42713337G>A	ENST00000372876.1	-	1	497	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	TBCC_ENST00000244625.2_Missense_Mutation_p.P159S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	159					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			ACTGCCGGGGGGATGCCAGGA	0.637																																						.											0													12	14	13					6																	42713337		2196	4291	6487	SO:0001583	missense	6903			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.475C>T	6.37:g.42713337G>A	ENSP00000361967:p.Pro159Ser		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.449022	0.01080	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.75154	-0.91;-0.91	1.03	-1.1	0.09872	.	0.817042	0.11186	N	0.590398	T	0.32164	0.0820	L	0.35854	1.095	0.32258	N	0.570472	B	0.12013	0.005	B	0.11329	0.006	T	0.01484	-1.1343	10	0.10111	T	0.7	-13.7078	2.3667	0.04321	0.0:0.319:0.3634:0.3176	.	159	Q15814	TBCC_HUMAN	S	159	ENSP00000361967:P159S;ENSP00000244625:P159S	ENSP00000244625:P159S	P	-	1	0	TBCC	42821315	0.001000	0.12720	0.561000	0.28357	0.392000	0.30506	0.015000	0.13355	0.308000	0.22923	0.313000	0.20887	CCC		0.637	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		A	42713337	G	A	42713337	3	1	15	1	0	0	0	0	1	0	0	0	15628	1232	43	3	569	3	TBCC	6	42713337	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	10161380	42713337	128401730	21	1105											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	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	tccagcacccgcggtccgggCactgggagggtctctccgcg	4	6	15	16	5	1	0	0	0	1	0	5	1	4	1	4	4	1	2	4	4	0	0	rs9462858	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732					.											0								C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A			Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																				0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	15	1	0	0	0	0	0	0	0	1	11750	697	25	5		5	PEX6	6	42946490	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10	233153	42946490	128168577	22	1106											
PERP	64065	ucsc.edu	37	chr6	138428444	138428444	+	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	gagcaggggcaggatccagcGgcagcgctcgcaggccaggc	8	2	18	13	3	0	0	0	0	0	0	2	2	1	1	2	6	3	5	2	6	0	0			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr6:138428444G>A	ENST00000421351.3	-	1	204	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	12					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		AGGATCCAGCGGCAGCGCTCG	0.741																																						.											0													18	24	22					6																	138428444		2085	4108	6193	SO:0001583	missense	64065			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.34C>T	6.37:g.138428444G>A	ENSP00000397157:p.Arg12Cys		B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	ENST00000421351.3	37	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.294854	0.81025	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	T	0.55052	0.54	4.14	-2.01	0.07410	.	0.051614	0.64402	D	0.000001	T	0.44623	0.1302	L	0.27053	0.805	0.58432	D	0.999991	D	0.89917	1.0	D	0.78314	0.991	T	0.53892	-0.8374	10	0.87932	D	0	-7.0466	13.4994	0.61445	0.0:0.0:0.7533:0.2467	.	12	Q96FX8	PERP_HUMAN	C	12	ENSP00000397157:R12C	ENSP00000265603:R12C	R	-	1	0	PERP	138470137	0.756000	0.28383	0.998000	0.56505	0.987000	0.75469	-0.511000	0.06321	-0.142000	0.11354	-0.408000	0.06270	CGC		0.741	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121		A	138428444	G	A	138428444	3	1	15	1	0	0	0	0	1	0	0	0	11732	1116	39	1	559	1	PERP	6	138428444	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	95481954	138428444	32686623	23	1107											
C7orf27	221927	mdanderson.org	37	chr7	2578285	2578285	+	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	acgaactgctccgtgtcctgGgccgcgtcggcgtggccgtc	3	8	15	15	7	0	0	0	0	0	0	4	1	2	0	4	3	2	1	4	3	1	0	rs142346283	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:2578285G>A	ENST00000340611.4	-	14	2140	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	628					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						CCGTGTCCTGGGCCGCGTCGG	0.697													G|||	33	0.00658946	0.0227	0.0043	5008	,	,		13062	0		0	False		,,,				2504	0					.											0								G		86,4228		0,86,2071	15	18	17		1884	-8.1	0	7	dbSNP_134	17	1,8423		0,1,4211	no	coding-synonymous	BRAT1	NM_152743.3		0,87,6282	AA,AG,GG		0.0119,1.9935,0.683		628/822	2578285	87,12651	2157	4212	6369	SO:0001819	synonymous_variant	221927			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.1884C>T	7.37:g.2578285G>A			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																				0.697	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		A	2578285	G	A	2578285	2	1	15	1	0	0	0	0	0	0	0	1	2382	1219	43	3		3	C7orf27	7	2578285	Silent	SNP	G	TCGA-KL-8337-01A-11D-2310-10		2578285	156560378	24	1108											
C1GALT1	56913	broad.mit.edu	37	chr7	7278070	7278070	+	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	ttccctgctgtgggactgaaAaccaaagaaggcagagatca	14	7	11	9	0	1	3	1	1	0	2	2	5	2	4	2	2	2	2	2	2	4	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:7278070A>G	ENST00000223122.3	+	2	467	c.405A>G	c.(403-405)aaA>aaG	p.K135K	C1GALT1_ENST00000436587.2_Silent_p.K135K|C1GALT1_ENST00000402468.3_Silent_p.K135K			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	135					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGGGACTGAAAACCAAAGAAG	0.378																																						.											0													67	68	67					7																	7278070		2203	4300	6503	SO:0001819	synonymous_variant	56913			AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"Beta 3-glycosyltransferases"	24337	protein-coding gene	gene with protein product	"core 1 beta3-Gal-T"	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.405A>G	7.37:g.7278070A>G			Q96QH4|Q9BTU1	Silent	SNP	ENST00000223122.3	37	CCDS5355.1																																																																																				0.378	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		G	7278070	A	G	7278070	2	3	15	1	0	0	0	0	0	0	0	1	1952	11	1	4		4	C1GALT1	7	7278070	Silent	SNP	A	TCGA-KL-8337-01A-11D-2310-10	4699785	7278070	151860593	25	1109											
TMEM196	256130	broad.mit.edu	37	chr7	19769017	19769017	+	Frame_Shift_Del	DEL	T	T	-																															acacttacgacaagtcctgaTttttttttggcacacaatat																										TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:19769017delT	ENST00000405764.3	-	2	888	c.192delA	c.(190-192)aaafs	p.K64fs	TMEM196_ENST00000405844.1_Frame_Shift_Del_p.K64fs|TMEM196_ENST00000493519.1_5'UTR|TMEM196_ENST00000422233.1_5'UTR|TMEM196_ENST00000433641.1_5'UTR	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	70						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CAAGTCCTGATTTTTTTTTGG	0.353																																						.											0										11,11,1946		3,0,5,4,3,969	161	137	144			5.4	1	7		148	5,6,4003		0,0,5,0,6,1996	no	codingComplex	TMEM196	NM_152774.3		3,0,10,4,9,2965	A1A1,A1A2,A1R,A2A2,A2R,RR		0.274,1.1179,0.5517			19769017	16,17,5949	692	1591	2283	SO:0001589	frameshift_variant	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.192delA	7.37:g.19769017delT	ENSP00000384234:p.Lys64fs		Q8N6I6	Frame_Shift_Del	DEL	ENST00000405764.3	37	CCDS34607.2																																																																																				0.353	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		-	19769017	T	-	19769017	7	5	15	1	0	1	0	1	0	0	0	0	16115	1490	52	0	338	0	TMEM196	7	19769017	Frame_Shift_Del	DEL	T	TCGA-KL-8337-01A-11D-2310-10	12490947	19769017	139369646	26	1110											
DNAJB9	4189	broad.mit.edu	37	chr7	108212318	108212318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggcctttcacaagttgGccatgaagtaccaccctgac	12	8	9	12	0	1	3	1	2	0	1	1	3	1	3	4	2	1	2	4	2	4	3			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:108212318G>T	ENST00000249356.3	+	2	694	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	THAP5_ENST00000438865.1_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_5'Flank|THAP5_ENST00000415914.3_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	50	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TCACAAGTTGGCCATGAAGTA	0.413																																						.											0													99	107	105					7																	108212318		2203	4300	6503	SO:0001583	missense	4189			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.148G>T	7.37:g.108212318G>T	ENSP00000249356:p.Ala50Ser			Missense_Mutation	SNP	ENST00000249356.3	37	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477236	0.96291	.	.	ENSG00000128590	ENST00000249356	T	0.36878	1.23	5.34	5.34	0.76211	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.17312	0.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37686	-0.9695	9	.	.	.	.	18.035	0.89298	0.0:0.0:1.0:0.0	.	50	Q9UBS3	DNJB9_HUMAN	S	50	ENSP00000249356:A50S	.	A	+	1	0	DNAJB9	107999554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.483000	0.83821	0.563000	0.77884	GCC		0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			T	108212318	G	T	108212318	3	4	15	1	0	0	0	0	1	0	0	0	4627	1203	42	5	150	5	DNAJB9	7	108212318	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	88443301	108212318	50926345	27	1111											
AASS	10157	broad.mit.edu	37	chr7	121755170	121755170	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccacaccagcaggtgagAacttgcccggagccaggaga	11	5	12	13	1	0	2	0	1	0	2	1	5	1	3	4	3	4	1	4	3	1	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:121755170A>G	ENST00000393376.1	-	8	1096	c.1001T>C	c.(1000-1002)tTc>tCc	p.F334S	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.F334S			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	334	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGCAGGTGAGAACTTGCCCGG	0.488																																						.											0													126	117	120					7																	121755170		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1001T>C	7.37:g.121755170A>G	ENSP00000377040:p.Phe334Ser		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	A	7.479	0.648272	0.14516	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.68	-0.0723	0.13740	Alanine dehydrogenase/PNT, C-terminal (1);	0.798338	0.12272	N	0.483760	T	0.06917	0.0176	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.07813	T	0.8	0.0617	11.6038	0.51020	0.2361:0.0:0.7639:0.0	.	334	Q9UDR5	AASS_HUMAN	S	334	.	ENSP00000351834:F334S	F	-	2	0	AASS	121542406	0.999000	0.42202	0.792000	0.32020	0.453000	0.32348	2.070000	0.41491	-0.325000	0.08577	-0.256000	0.11100	TTC		0.488	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		G	121755170	A	G	121755170	3	3	15	1	0	0	0	0	1	0	0	0	24	246	9	4	1843	4	AASS	7	121755170	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	13542852	121755170	37383493	28	1112											
DENND2A	27147	ucsc.edu	37	chr7	140301430	140301430	+	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	atgaagggctttgtgggggaAccctccgagcccctatacac	9	8	12	12	1	0	1	0	1	0	0	1	3	1	2	4	3	3	1	4	3	4	3			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr7:140301430A>C	ENST00000275884.6	-	2	1185	c.768T>G	c.(766-768)ggT>ggG	p.G256G	DENND2A_ENST00000492720.1_Silent_p.G256G|DENND2A_ENST00000496613.1_Silent_p.G256G|DENND2A_ENST00000537639.1_Silent_p.G256G			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	256					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)	p.G256G(1)		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)					TTGTGGGGGAACCCTCCGAGC	0.587																																						.											1	Substitution - coding silent(1)	kidney(1)											114	120	118					7																	140301430		1896	4112	6008	SO:0001819	synonymous_variant	27147			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.768T>G	7.37:g.140301430A>C			C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.587	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		C	140301430	A	C	140301430	2	2	15	1	0	0	0	0	0	0	0	1	4429	30	2	5		5	DENND2A	7	140301430	Silent	SNP	A	TCGA-KL-8337-01A-11D-2310-10	18546260	140301430	18837233	29	1113											
PCMTD1	115294	bcgsc.ca	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-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	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																																						.											0													100	104	103					8																	52733191		2203	4297	6500	SO:0001583	missense	115294				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		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	15	1	0	0	0	0	1	0	0	0	11586	1203	42	3	283	3	PCMTD1	8	52733191	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10		52733191	93630831	30	1114											
PDE7A	5150	ucsc.edu	37	chr8	66753704	66753704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgctgggggaccggccTgtccaggggcagtaccggca	6	5	18	12	3	0	0	0	0	0	0	1	2	1	1	4	6	2	4	4	6	1	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr8:66753704T>C	ENST00000401827.3	-	1	483	c.40A>G	c.(40-42)Agg>Ggg	p.R14G	PDE7A_ENST00000396642.3_Missense_Mutation_p.R14G|CTD-2532N20.1_ENST00000607622.1_lincRNA	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	14					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)	GGGACCGGCCTGTCCAGGGGC	0.711																																						.											0													13	19	17					8																	66753704		1952	4148	6100	SO:0001583	missense	5150			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.40A>G	8.37:g.66753704T>C	ENSP00000385632:p.Arg14Gly		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745540	0.69418	.	.	ENSG00000205268	ENST00000401827;ENST00000396642	T;T	0.79749	-1.3;-1.3	4.0	4.0	0.46444	.	.	.	.	.	D	0.83608	0.5291	L	0.50333	1.59	0.38053	D	0.935848	D;D	0.57899	0.981;0.967	D;P	0.66351	0.943;0.879	T	0.82472	-0.0440	9	0.30078	T	0.28	.	9.8698	0.41166	0.0:0.0:0.172:0.828	.	14;14	Q13946-3;Q13946	.;PDE7A_HUMAN	G	14	ENSP00000385632:R14G;ENSP00000379881:R14G	ENSP00000379881:R14G	R	-	1	2	PDE7A	66916258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.285000	0.72658	1.442000	0.47568	0.455000	0.32223	AGG		0.711	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			C	66753704	T	C	66753704	3	2	15	1	0	0	0	0	1	0	0	0	11651	1579	55	2	1556	2	PDE7A	8	66753704	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	14020513	66753704	79610318	31	1115											
TTLL11	158135	hgsc.bcm.edu;ucsc.edu	37	chr9	124751435	124751435	+	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	agagccctcttgaggccggtCaaggctggaaacgcaggctg	9	6	15	11	2	2	2	1	1	1	1	2	3	2	3	2	5	2	3	2	5	2	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr9:124751435C>T	ENST00000373776.3	-	4	1765	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	526	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGAGGCCGGTCAAGGCTGGAA	0.612																																						.											0													68	67	67					9																	124751435		2203	4300	6503	SO:0001819	synonymous_variant	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1578G>A	9.37:g.124751435C>T				Silent	SNP	ENST00000373776.3	37	CCDS6834.2																																																																																				0.612	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		T	124751435	C	T	124751435	2	4	15	1	0	0	0	0	0	0	0	1	16721	825	29	4		4	TTLL11	9	124751435	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10		124751435	16461996	32	1116											
DDX31	64794	mdanderson.org	37	chr9	135545386	135545386	+	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	agactgctgggcccgggaccCcacgtgggacgcgcgaggac	7	3	17	14	5	0	1	0	0	0	1	0	5	0	4	3	4	1	1	3	4	0	0	rs75901862	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr9:135545386C>T	ENST00000372159.3	-	1	402	c.251G>A	c.(250-252)gGg>gAg	p.G84E	DDX31_ENST00000372153.1_Missense_Mutation_p.G84E|DDX31_ENST00000480876.1_5'UTR|GTF3C4_ENST00000483873.2_5'Flank|GTF3C4_ENST00000372146.4_5'Flank|DDX31_ENST00000544003.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.G84E	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	84						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)		GCCCGGGACCCCACGTGGGAC	0.741													C|||	64	0.0127796	0.0477	0	5008	,	,		13282	0		0.001	False		,,,				2504	0					.											0								C	GLU/GLY,GLU/GLY	138,4042		3,132,1955	9	6	7		251,251	0.6	0.6	9	dbSNP_131	7	4,8142		0,4,4069	no	missense,missense	DDX31	NM_022779.7,NM_138620.1	98,98	3,136,6024	TT,TC,CC		0.0491,3.3014,1.152	possibly-damaging,possibly-damaging	84/852,84/586	135545386	142,12184	2090	4073	6163	SO:0001583	missense	64794			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.251G>A	9.37:g.135545386C>T	ENSP00000361232:p.Gly84Glu		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	25	0.011446886446886446	24	0.04878048780487805	0	0.0	0	0.0	1	0.0013192612137203166	C	12.05	1.820370	0.32145	0.033014	4.91E-4	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000310532	T;T;T	0.06142	4.17;3.73;3.34	1.66	0.633	0.17712	.	.	.	.	.	T	0.00580	0.0019	N	0.14661	0.345	0.58432	D	0.999999	B;P;B	0.42357	0.274;0.777;0.18	B;B;B	0.39935	0.082;0.314;0.023	T	0.57917	-0.7728	9	0.52906	T	0.07	.	5.4778	0.16706	0.0:0.6115:0.3885:0.0	.	84;84;84	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	E	84	ENSP00000361232:G84E;ENSP00000361226:G84E;ENSP00000310539:G84E	ENSP00000310539:G84E	G	-	2	0	DDX31	134535207	0.011000	0.17503	0.639000	0.29394	0.605000	0.37080	0.287000	0.18920	0.189000	0.20188	0.462000	0.41574	GGG		0.741	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		T	135545386	C	T	135545386	3	4	15	1	0	0	0	0	1	0	0	0	4356	623	22	3	2391	3	DDX31	9	135545386	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	10793951	135545386	5668045	33	1117											
C9orf172	389813	mdanderson.org	37	chr9	139739643	139739643	+	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	tactgcgacgggcccctgccTgggccccgggactacgccga	5	5	14	17	5	0	0	0	0	0	0	0	3	0	1	6	3	4	0	6	3	2	2	rs10870132	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr9:139739643T>C	ENST00000436881.1	+	1	777	c.777T>C	c.(775-777)ccT>ccC	p.P259P		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	259	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GGCCCCTGCCTGGGCCCCGGG	0.726													T|||	3952	0.789137	0.7799	0.6744	5008	,	,		8348	0.879		0.7972	False		,,,				2504	0.7822					.											0													5	5	5					9																	139739643		1547	3489	5036	SO:0001819	synonymous_variant	389813				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.777T>C	9.37:g.139739643T>C				Silent	SNP	ENST00000436881.1	37	CCDS48059.1																																																																																				0.726	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		C	139739643	T	C	139739643	2	2	15	1	0	0	0	0	0	0	0	1	2471	1567	55	2		2	C9orf172	9	139739643	Silent	SNP	T	TCGA-KL-8337-01A-11D-2310-10	4194257	139739643	1473788	34	1118											
SLC25A28	81894	hgsc.bcm.edu	37	chr10	101373519	101373519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttttttaacttttcgtAgcaggcaaaataaagggcgt	11	15	9	6	2	1	0	0	0	1	0	2	0	1	0	0	2	2	3	0	2	6	7			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr10:101373519A>G	ENST00000370495.4	-	2	482	c.454T>C	c.(454-456)Tac>Cac	p.Y152H	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	152					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)		AACTTTTCGTAGCAGGCAAAA	0.522																																						.											0													63	68	66					10																	101373519		1907	4115	6022	SO:0001583	missense	81894			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.454T>C	10.37:g.101373519A>G	ENSP00000359526:p.Tyr152His		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.565618	0.86439	.	.	ENSG00000155287	ENST00000370495	D	0.84873	-1.91	5.26	5.26	0.73747	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.95674	0.8593	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97451	1.0028	10	0.72032	D	0.01	-20.6478	15.3365	0.74260	1.0:0.0:0.0:0.0	.	152	Q96A46	MFRN2_HUMAN	H	152	ENSP00000359526:Y152H	ENSP00000359526:Y152H	Y	-	1	0	SLC25A28	101363509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.735000	0.91549	2.208000	0.71279	0.459000	0.35465	TAC		0.522	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		G	101373519	A	G	101373519	3	3	15	1	0	0	0	0	1	0	0	0	14491	420	15	2	652	2	SLC25A28	10	101373519	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10		101373519	34161228	35	1119											
CALHM2	51063	bcgsc.ca	37	chr10	105209398	105209398	+	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	caggatggagcttagaaggaGgaaggtgggggcggcggagc	10	4	22	5	2	0	1	0	0	0	1	0	6	0	6	0	9	2	1	0	9	3	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr10:105209398G>A	ENST00000260743.5	-	3	824	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.L101F|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000393235.1_Missense_Mutation_p.L101F	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	101					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTTAGAAGGAGGAAGGTGGGG	0.602																																						.											0													76	75	76					10																	105209398		2203	4300	6503	SO:0001583	missense	51063			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.301C>T	10.37:g.105209398G>A	ENSP00000260743:p.Leu101Phe		D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622214	0.66787	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.18810	2.19;2.19;2.19	5.31	5.31	0.75309	.	0.147583	0.44285	D	0.000467	T	0.27697	0.0681	L	0.32530	0.975	0.44323	D	0.997208	D;D;B	0.71674	0.998;0.993;0.081	D;P;B	0.69142	0.962;0.857;0.061	T	0.04650	-1.0936	10	0.09843	T	0.71	-21.218	9.6544	0.39917	0.1548:0.0:0.8452:0.0	.	101;101;101	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	F	101	ENSP00000358803:L101F;ENSP00000260743:L101F;ENSP00000376927:L101F	ENSP00000260743:L101F	L	-	1	0	CALHM2	105199388	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.876000	0.48498	2.474000	0.83562	0.561000	0.74099	CTC		0.602	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		A	105209398	G	A	105209398	3	1	15	1	0	0	0	0	1	0	0	0	2583	1000	35	4	678	4	CALHM2	10	105209398	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	3835879	105209398	30325349	36	1120											
MUC2	4583	broad.mit.edu;mdanderson.org	37	chr11	1092631	1092631	+	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	ccagccctccaaccaccactCccagccctccaacaaccacc	11	3	2	25	0	0	0	0	0	0	0	3	0	3	0	10	0	5	0	10	0	3	0			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:1092631C>T	ENST00000441003.2	+	30	4477	c.4450C>T	c.(4450-4452)Ccc>Tcc	p.P1484S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.P1485S|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4219	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)	aaccaccactcccaGCCCTCC	0.627																																						.											0													245	372	327					11																	1092631		1617	3015	4632	SO:0001583	missense	4583			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.4450C>T	11.37:g.1092631C>T	ENSP00000415183:p.Pro1484Ser		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	c	0.346	-0.947869	0.02304	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13307	2.67;2.6	1.51	-3.01	0.05463	.	2582.360000	0.00783	U	0.001290	T	0.05364	0.0142	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.22765	-1.0207	9	0.09590	T	0.72	.	0.5823	0.00714	0.3056:0.3209:0.141:0.2324	.	1484	E7EUV1	.	S	1484;1485	ENSP00000415183:P1484S;ENSP00000351956:P1485S	ENSP00000351956:P1485S	P	+	1	0	MUC2	1082631	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.001000	0.01465	-1.883000	0.01120	0.000000	0.15137	CCC		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092631	C	T	1092631	3	4	15	1	0	0	0	0	1	0	0	0	9975	855	30	3	4568	3	MUC2	11	1092631	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10		1092631	133913885	37	1121											
KRTAP5-5	439915	mdanderson.org	37	chr11	1651645	1651645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccagctgctgtaagccctActgctgccagtccagctgct	6	10	10	15	0	0	0	0	0	0	0	2	0	2	0	4	0	8	6	4	0	2	2	rs77039648		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:1651645A>G	ENST00000399676.2	+	1	613	c.575A>G	c.(574-576)tAc>tGc	p.Y192C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	192	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTAAGCCCTACTGCTGCCAG	0.602																																						.											0													78	86	83					11																	1651645		2200	4299	6499	SO:0001583	missense	439915			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.575A>G	11.37:g.1651645A>G	ENSP00000382584:p.Tyr192Cys		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.537048	0.00942	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01323	5.01	2.94	0.953	0.19590	.	.	.	.	.	T	0.00468	0.0015	N	0.00186	-1.895	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.42413	-0.9453	8	0.37606	T	0.19	.	4.0328	0.09716	0.1469:0.2455:0.6076:0.0	.	192	Q701N2	KRA55_HUMAN	C	192;163	ENSP00000382584:Y192C	ENSP00000382584:Y192C	Y	+	2	0	KRTAP5-5	1608221	0.002000	0.14202	0.035000	0.18076	0.003000	0.03518	0.006000	0.13152	0.009000	0.14813	-1.591000	0.00844	TAC		0.602	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			G	1651645	A	G	1651645	3	3	15	1	0	0	0	0	1	0	0	0	8564	391	14	2	577	2	KRTAP5-5	11	1651645	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	559014	1651645	133354871	38	1122											
INS-IGF2	723961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	2168965	2168965	+	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	gcagggggctgagctggcagCgattcagagccctggggctg	6	6	19	10	1	1	2	1	1	0	1	1	3	1	2	1	5	3	5	1	5	0	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:2168965C>T	ENST00000397270.1	-	4	538	c.480G>A	c.(478-480)tcG>tcA	p.S160S	INS-IGF2_ENST00000481781.1_5'UTR|IGF2-AS_ENST00000445504.2_RNA|IGF2-AS_ENST00000381361.3_RNA|IGF2_ENST00000300632.5_5'UTR|IGF2-AS_ENST00000381363.4_RNA	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	160						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GAGCTGGCAGCGATTCAGAGC	0.647																																						.											0													9	11	10					11																	2168965		1802	3876	5678	SO:0001819	synonymous_variant	723961			DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.480G>A	11.37:g.2168965C>T			Q1WM24	Silent	SNP	ENST00000397270.1	37	CCDS41598.1																																																																																				0.647	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		T	2168965	C	T	2168965	2	4	15	1	0	0	0	0	0	0	0	1	7763	755	27	1		1	INS-IGF2	11	2168965	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10	517320	2168965	132837551	39	1123											
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	32635093	32635093	+	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	acaaagaaatgcaaggggtcGaactgctcgctgtttgactt	12	10	11	8	2	0	2	0	1	0	1	2	3	0	2	0	2	3	4	0	2	4	2	rs201737265		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:32635093G>A	ENST00000335185.5	-	16	2814	c.2771C>T	c.(2770-2772)tCg>tTg	p.S924L	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	924										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)					GCAAGGGGTCGAACTGCTCGC	0.378													G|||	1	0.000199681	0	0	5008	,	,		16516	0.001		0	False		,,,				2504	0					.											0													126	116	120					11																	32635093		1837	4075	5912	SO:0001583	missense	493860			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.2771C>T	11.37:g.32635093G>A	ENSP00000335325:p.Ser924Leu		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.192	0.034318	0.08101	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.18	0.492	0.16872	.	1.274690	0.05407	N	0.541652	T	0.33904	0.0879	L	0.38838	1.175	0.20074	N	0.999939	B	0.25169	0.119	B	0.17979	0.02	T	0.29119	-1.0022	9	0.36615	T	0.2	.	10.1385	0.42721	0.3216:0.0:0.6784:0.0	.	924	Q6ZRK6	CCD73_HUMAN	L	924	.	ENSP00000335325:S924L	S	-	2	0	CCDC73	32591669	0.991000	0.36638	0.009000	0.14445	0.015000	0.08874	1.933000	0.40153	0.183000	0.20059	0.544000	0.68410	TCG		0.378	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		A	32635093	G	A	32635093	3	1	15	1	0	0	0	0	1	0	0	0	2846	1059	37	1	480	1	CCDC73	11	32635093	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	30466128	32635093	102371423	40	1124											
GAL3ST3	89792	ucsc.edu	37	chr11	65810618	65810618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaggtaggcggcgtcgTcgcgcgggctgcgctcattg	3	7	17	14	8	1	0	1	0	0	0	3	0	1	0	2	4	1	3	2	4	1	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:65810618T>C	ENST00000312006.4	-	3	937	c.656A>G	c.(655-657)gAc>gGc	p.D219G	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D219G	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	219					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCGGCGTCGTCGCGCGGGCT	0.667																																						.											0													33	38	36					11																	65810618		2199	4292	6491	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.656A>G	11.37:g.65810618T>C	ENSP00000308591:p.Asp219Gly		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763983	0.31228	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.14640	2.49;2.49	3.99	3.99	0.46301	.	0.639319	0.15481	N	0.260103	T	0.08846	0.0219	N	0.14661	0.345	0.09310	N	0.999993	B	0.14012	0.009	B	0.17722	0.019	T	0.19516	-1.0303	10	0.56958	D	0.05	-21.5566	9.4764	0.38873	0.0:0.0:0.0:1.0	.	219	Q96A11	G3ST3_HUMAN	G	219	ENSP00000308591:D219G;ENSP00000434829:D219G	ENSP00000308591:D219G	D	-	2	0	GAL3ST3	65567194	0.085000	0.21516	0.998000	0.56505	0.987000	0.75469	2.256000	0.43231	1.800000	0.52685	0.459000	0.35465	GAC		0.667	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		C	65810618	T	C	65810618	3	2	15	1	0	0	0	0	1	0	0	0	6199	1667	58	2	643	2	GAL3ST3	11	65810618	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	33175525	65810618	69195898	41	1125											
MAML2	84441	mdanderson.org	37	chr11	95825362	95825362	+	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	tgttgctgttgctgttgctgCtgctgctgctgttgctgctg	0	18	14	9	0	0	0	0	0	0	0	0	0	0	0	0	0	9	13	0	0	0	4			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr11:95825362C>T	ENST00000524717.1	-	2	3117	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	611					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.Q611Q(2)	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)				gctgttgctgctgctgctgct	0.542			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											39	44	42					11																	95825362		2057	4042	6099	SO:0001819	synonymous_variant	84441			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.1833G>A	11.37:g.95825362C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.542	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825362	C	T	95825362	2	4	15	1	0	0	0	0	0	0	0	1	9206	796	28	4		4	MAML2	11	95825362	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10	30014744	95825362	39181154	42	1126											
PRB2	653247	mdanderson.org	37	chr12	11546495	11546495	+	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	ctttcctggaggagatcgagAacttcgggacttgttgtctc	7	13	12	9	2	1	2	0	0	1	2	5	6	2	4	1	3	1	1	1	3	1	4	rs567948307	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr12:11546495A>C	ENST00000389362.4	-	3	552	c.517T>G	c.(517-519)Tct>Gct	p.S173A	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	173	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)			GGAGATCGAGAACTTCGGGAC	0.607																																						.											0													276	256	263					12																	11546495		2200	4299	6499	SO:0001583	missense	653247			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.517T>G	12.37:g.11546495A>C	ENSP00000374013:p.Ser173Ala		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.550172	0.00926	.	.	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.07	-1.34	0.09143	.	0.224686	0.18466	U	0.140380	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B	0.31893	0.345	B	0.25291	0.059	T	0.46884	-0.9159	10	0.07175	T	0.84	.	5.5822	0.17256	0.2598:0.0:0.7402:0.0	.	173	P02812	PRB2_HUMAN	A	173	ENSP00000374013:S173A	ENSP00000374013:S173A	S	-	1	0	PRB2	11437762	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	-5.737000	0.00101	-0.425000	0.07371	0.092000	0.15492	TCT		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546495	A	C	11546495	3	2	15	1	0	0	0	0	1	0	0	0	12443	246	9	5	737	5	PRB2	12	11546495	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10		11546495	122305400	43	1127											
KRT86	3892	mdanderson.org	37	chr12	52699044	52699044	+	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	gagatccgcgttctccagtcCcacatctcagacacctccgt	8	9	7	17	3	2	2	1	0	2	2	7	3	5	2	5	0	0	1	5	0	0	1	rs61915660	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr12:52699044C>G	ENST00000423955.2	+	7	934	c.756C>G	c.(754-756)tcC>tcG	p.S252S	KRT86_ENST00000544024.1_Silent_p.S252S|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Silent_p.S252S			O43790	KRT86_HUMAN	keratin 86	252	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTCCAGTCCCACATCTCAG	0.557																																						.											0													150	129	136					12																	52699044		2203	4300	6503	SO:0001819	synonymous_variant	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.756C>G	12.37:g.52699044C>G			P78387	Silent	SNP	ENST00000423955.2	37	CCDS41785.1																																																																																				0.557	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		G	52699044	C	G	52699044	2	3	15	1	0	0	0	0	0	0	0	1	8500	610	22	5		5	KRT86	12	52699044	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10	41152549	52699044	81152851	44	1128											
STRN3	29966	broad.mit.edu	37	chr14	31420078	31420078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattactcactgtcttaaaAgctgtctgccttgcttccac	9	15	5	12	0	3	0	1	0	2	0	4	0	4	0	2	0	4	2	2	0	4	5			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr14:31420078A>G	ENST00000357479.5	-	4	729	c.533T>C	c.(532-534)cTt>cCt	p.L178P	STRN3_ENST00000355683.5_Missense_Mutation_p.L178P	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	178	Calmodulin-binding. {ECO:0000255}.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|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)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGTCTTAAAAGCTGTCTGCC	0.348																																						.											0													131	130	130					14																	31420078		2203	4300	6503	SO:0001583	missense	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.533T>C	14.37:g.31420078A>G	ENSP00000350071:p.Leu178Pro		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466525	0.84425	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86097	-2.07;-2.07	5.93	5.93	0.95920	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93354	0.7881	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.91;0.999	D	0.94299	0.7535	10	0.87932	D	0	-17.0829	16.4321	0.83853	1.0:0.0:0.0:0.0	.	178;178	Q13033-2;Q13033	.;STRN3_HUMAN	P	178;178;59	ENSP00000347909:L178P;ENSP00000350071:L178P	ENSP00000347909:L178P	L	-	2	0	STRN3	30489829	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.604000	0.90877	2.281000	0.76405	0.529000	0.55759	CTT		0.348	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		G	31420078	A	G	31420078	3	3	15	1	0	0	0	0	1	0	0	0	15329	72	3	2	1920	2	STRN3	14	31420078	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10		31420078	75929462	45	1129											
AHNAK2	113146	mdanderson.org	37	chr14	105411784	105411784	+	Missense_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	cgtcggcctccgccttcggcGcagacacatccaccgaggcc	6	5	11	19	6	0	1	0	0	0	1	4	2	2	1	6	3	0	1	6	3	0	1	rs371364837		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr14:105411784G>T	ENST00000333244.5	-	7	10123	c.10004C>A	c.(10003-10005)gCg>gAg	p.A3335E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3335						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)			CGCCTTCGGCGCAGACACATC	0.602																																						.											0													150	153	152					14																	105411784		1986	4152	6138	SO:0001583	missense	113146			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.10004C>A	14.37:g.105411784G>T	ENSP00000353114:p.Ala3335Glu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	10.45	1.353939	0.24512	.	.	ENSG00000185567	ENST00000333244	T	0.00949	5.51	3.83	-3.74	0.04385	.	.	.	.	.	T	0.01189	0.0039	M	0.70275	2.135	0.09310	N	1	B	0.31040	0.305	B	0.36808	0.233	T	0.48364	-0.9042	9	0.02654	T	1	.	5.4244	0.16417	0.4015:0.2619:0.3366:0.0	.	3335	Q8IVF2	AHNK2_HUMAN	E	3335	ENSP00000353114:A3335E	ENSP00000353114:A3335E	A	-	2	0	AHNAK2	104482829	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	-0.307000	0.08167	-1.065000	0.03168	-1.424000	0.01105	GCG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105411784	G	T	105411784	3	4	15	1	0	0	0	0	1	0	0	0	415	1087	38	5	7387	5	AHNAK2	14	105411784	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	73991706	105411784	1937756	46	1130											
SPESP1	246777	broad.mit.edu	37	chr15	69238206	69238206	+	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	ggcttcacaccggaaataggAaagaaaaaacacacggaaag	20	3	10	8	2	1	1	1	0	0	1	1	4	1	4	1	4	1	1	1	4	7	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr15:69238206A>G	ENST00000310673.3	+	2	487	c.333A>G	c.(331-333)ggA>ggG	p.G111G	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	111					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						CGGAAATAGGAAAGAAAAAAC	0.398																																						.											0													61	62	62					15																	69238206		2200	4298	6498	SO:0001819	synonymous_variant	246777			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.333A>G	15.37:g.69238206A>G			Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	CCDS10230.1																																																																																				0.398	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		G	69238206	A	G	69238206	2	3	15	1	0	0	0	0	0	0	0	1	15039	233	9	4		4	SPESP1	15	69238206	Silent	SNP	A	TCGA-KL-8337-01A-11D-2310-10		69238206	33293186	47	1131											
PKM2	5315	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr15	72492092	72492092	+	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	cttcttgaagaagcctcgggCcttgcctggaggaagagaag	10	8	14	9	1	1	3	0	1	1	2	2	6	1	5	3	3	2	0	3	3	4	3			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr15:72492092C>T	ENST00000335181.5	-	11	1598	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	PKM_ENST00000319622.6_Missense_Mutation_p.A499T|PKM_ENST00000568459.1_Missense_Mutation_p.A499T|PKM_ENST00000568883.1_Missense_Mutation_p.A334T|PKM_ENST00000449901.2_Missense_Mutation_p.A484T|PKM_ENST00000565184.1_Missense_Mutation_p.A499T|PKM_ENST00000389093.3_Missense_Mutation_p.A499T|PKM_ENST00000565154.1_Missense_Mutation_p.A499T|GRAMD2_ENST00000309731.7_5'Flank	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	499	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	AAGCCTCGGGCCTTGCCTGGA	0.587											OREG0023252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													45	41	42					15																	72492092		2199	4297	6496	SO:0001583	missense	5315			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1495G>A	15.37:g.72492092C>T	ENSP00000334983:p.Ala499Thr	1138	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947399	0.53186	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37	5.33	5.33	0.75918	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.051452	0.85682	D	0.000000	D	0.97816	0.9283	M	0.61703	1.905	0.58432	D	0.999999	B;B;B;B;B;B;B;B	0.12630	0.001;0.005;0.0;0.0;0.0;0.003;0.0;0.006	B;B;B;B;B;B;B;B	0.14578	0.003;0.011;0.007;0.002;0.003;0.009;0.003;0.009	D	0.97679	1.0171	10	0.16896	T	0.51	-14.6084	19.3858	0.94555	0.0:1.0:0.0:0.0	.	425;484;479;499;499;334;426;334	B4DNK4;B4DUU6;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;KPYM_HUMAN;.;.;.;.	T	499;499;426;334;499;484	ENSP00000320171:A499T;ENSP00000334983:A499T;ENSP00000373745:A499T;ENSP00000403365:A484T	ENSP00000320171:A499T	A	-	1	0	PKM2	70279146	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.787000	0.62432	2.659000	0.90383	0.561000	0.74099	GCC		0.587	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			T	72492092	C	T	72492092	3	4	15	1	0	0	0	0	1	0	0	0	11977	739	26	3	104	3	PKM2	15	72492092	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	3253886	72492092	30039300	48	1132											
SRRM2	23524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	2813651	2813651	+	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	tctctgtgcaggagtaaaatCtagcacaccaccaggcgaga	13	7	10	11	1	2	1	0	0	2	1	3	3	2	2	2	2	2	3	2	2	3	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:2813651C>A	ENST00000301740.8	+	11	3671	c.3122C>A	c.(3121-3123)tCt>tAt	p.S1041Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1041	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						GGAGTAAAATCTAGCACACCA	0.458																																						.											0													94	95	95					16																	2813651		2198	4300	6498	SO:0001583	missense	23524			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.3122C>A	16.37:g.2813651C>A	ENSP00000301740:p.Ser1041Tyr		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892469	0.33442	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.27256	1.68	5.54	5.54	0.83059	.	0.522580	0.19245	N	0.119072	T	0.25082	0.0609	L	0.34521	1.04	0.35720	D	0.817096	P	0.44090	0.826	B	0.41088	0.347	T	0.26258	-1.0108	10	0.66056	D	0.02	-0.5501	16.9676	0.86290	0.0:1.0:0.0:0.0	.	1041	Q9UQ35	SRRM2_HUMAN	Y	1041;1041;293	ENSP00000301740:S1041Y	ENSP00000301740:S1041Y	S	+	2	0	SRRM2	2753652	0.060000	0.20803	0.975000	0.42487	0.454000	0.32378	2.762000	0.47597	2.622000	0.88805	0.655000	0.94253	TCT		0.458	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2813651	C	A	2813651	3	1	15	1	0	0	0	0	1	0	0	0	15168	913	32	5	3160	5	SRRM2	16	2813651	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10		2813651	87541102	49	1133											
CORO1A	11151	ucsc.edu	37	chr16	30198795	30198795	+	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	acgggcttcagccgcatgagTgagcggcaggtggcgctgtg	6	7	18	10	4	1	2	1	2	0	0	1	2	1	2	1	4	2	4	1	4	0	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:30198795T>C	ENST00000219150.5	+	6	1034	c.729T>C	c.(727-729)agT>agC	p.S243S	CORO1A_ENST00000570045.1_Silent_p.S243S|CORO1A_ENST00000565497.1_Silent_p.S243S|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	243					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						GCCGCATGAGTGAGCGGCAGG	0.672																																						.											0													26	27	26					16																	30198795		2196	4300	6496	SO:0001819	synonymous_variant	11151			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.729T>C	16.37:g.30198795T>C			B2RBL1|Q2YD73	Silent	SNP	ENST00000219150.5	37	CCDS10673.1																																																																																				0.672	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		C	30198795	T	C	30198795	2	2	15	1	0	0	0	0	0	0	0	1	3753	1693	59	2		2	CORO1A	16	30198795	Silent	SNP	T	TCGA-KL-8337-01A-11D-2310-10	27385144	30198795	60155958	50	1134											
CLEC18A	348174	mdanderson.org	37	chr16	69988292	69988292	+	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	cagggcagccctctgtggaaCcccaaccccgagcctggcgt	7	5	12	17	2	1	0	0	0	1	0	1	2	1	1	6	3	4	1	6	3	2	0	rs2549089	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:69988292C>T	ENST00000288040.6	+	3	459	c.272C>T	c.(271-273)aCc>aTc	p.T91I	CLEC18A_ENST00000568461.1_Missense_Mutation_p.T91I|CLEC18A_ENST00000449317.2_Missense_Mutation_p.T91I|CLEC18A_ENST00000393701.2_Missense_Mutation_p.T91I	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	91	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.T91I(2)		NS(1)|endometrium(2)|lung(1)|skin(1)	5						CTCTGTGGAACCCCAACCCCG	0.647													.|||	21	0.00419329	0.0159	0	5008	,	,		17779	0		0	False		,,,				2504	0					.											2	Substitution - Missense(2)	NS(1)|skin(1)											55	53	54					16																	69988292		2198	4300	6498	SO:0001583	missense	348174			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.272C>T	16.37:g.69988292C>T	ENSP00000288040:p.Thr91Ile		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	37	CCDS10886.1	.	.	.	.	.	.	.	.	.	.	.	3.377	-0.127284	0.06753	.	.	ENSG00000157322	ENST00000393701;ENST00000539957;ENST00000449317;ENST00000288040	T;T;T	0.07800	3.16;3.16;3.16	1.97	0.987	0.19790	CAP domain (3);	0.641843	0.13978	N	0.349648	T	0.05227	0.0139	N	0.22421	0.69	0.09310	N	1	B;B;B	0.28470	0.027;0.213;0.078	B;B;B	0.32022	0.014;0.139;0.087	T	0.42816	-0.9429	9	.	.	.	.	4.4066	0.11413	0.0:0.7949:0.0:0.2051	rs2549089	91;91;91	B4DPF2;A5D8T8;F8W692	.;CL18A_HUMAN;.	I	91	ENSP00000377304:T91I;ENSP00000413990:T91I;ENSP00000288040:T91I	.	T	+	2	0	CLEC18A	68545793	0.037000	0.19845	0.022000	0.16811	0.346000	0.29079	0.463000	0.21972	0.390000	0.25115	0.184000	0.17185	ACC		0.647	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		T	69988292	C	T	69988292	3	4	15	1	0	0	0	0	1	0	0	0	3502	507	18	3	282	3	CLEC18A	16	69988292	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	39789497	69988292	20366461	51	1135											
HPR	3250	mdanderson.org	37	chr16	72108254	72108254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcgctaccagtgtaagAactactacagactgcgcaca	12	10	8	11	2	0	2	0	0	0	2	1	2	0	2	1	0	5	4	1	0	5	5			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:72108254A>G	ENST00000540303.2	+	3	195	c.163A>G	c.(163-165)Aac>Gac	p.N55D	HPR_ENST00000356967.5_Missense_Mutation_p.N55D|HPR_ENST00000228226.8_Missense_Mutation_p.N92D|HPR_ENST00000561690.1_Missense_Mutation_p.N55D	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	55	Sushi.					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)				CCAGTGTAAGAACTACTACAG	0.498																																						.											0													211	131	157					16																	72108254		1982	4150	6132	SO:0001583	missense	3250			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.163A>G	16.37:g.72108254A>G	ENSP00000441828:p.Asn55Asp		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	A	7.220	0.597158	0.13875	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	T;T;T	0.46451	0.87;0.87;0.87	2.4	-4.79	0.03200	Complement control module (2);	4.420860	0.00639	N	0.000520	T	0.25269	0.0614	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.09271	-1.0682	10	0.23891	T	0.37	.	5.6919	0.17835	0.2734:0.5827:0.1439:0.0	.	55	P00739	HPTR_HUMAN	D	55;55;92	ENSP00000349451:N55D;ENSP00000441828:N55D;ENSP00000228226:N92D	ENSP00000228226:N92D	N	+	1	0	HP	70665755	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.020000	0.03618	-1.454000	0.01926	0.172000	0.16884	AAC		0.498	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		G	72108254	A	G	72108254	3	3	15	1	0	0	0	0	1	0	0	0	7337	246	9	4	173	4	HPR	16	72108254	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	2119962	72108254	18246499	52	1136											
ATMIN	23300	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	81077627	81077627	+	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	acggatgaccatgtacagatGgaccaagctggaatgtgcgg	12	7	14	8	2	0	2	0	1	0	1	0	5	0	5	2	4	3	2	2	4	3	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr16:81077627G>A	ENST00000299575.4	+	4	1548	c.1524G>A	c.(1522-1524)atG>atA	p.M508I	ATMIN_ENST00000566488.1_Missense_Mutation_p.M352I|ATMIN_ENST00000564241.1_Missense_Mutation_p.M352I|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	508					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ATGTACAGATGGACCAAGCTG	0.433																																						.											0													74	74	74					16																	81077627		2201	4300	6501	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1524G>A	16.37:g.81077627G>A	ENSP00000299575:p.Met508Ile		A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367893	0.24771	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.29917	1.55	5.91	3.89	0.44902	.	0.304822	0.42964	N	0.000621	T	0.33206	0.0855	M	0.72118	2.19	0.36086	D	0.843124	B	0.06786	0.001	B	0.06405	0.002	T	0.33701	-0.9858	10	0.54805	T	0.06	-8.3303	11.3485	0.49575	0.0657:0.0:0.8075:0.1268	.	508	O43313	ATMIN_HUMAN	I	508;279	ENSP00000299575:M508I	ENSP00000299575:M508I	M	+	3	0	ATMIN	79635128	1.000000	0.71417	0.871000	0.34182	0.464000	0.32679	2.981000	0.49329	0.779000	0.33543	0.655000	0.94253	ATG		0.433	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		A	81077627	G	A	81077627	3	1	15	1	0	0	0	0	1	0	0	0	1110	1348	47	4	1538	4	ATMIN	16	81077627	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	8969373	81077627	9277126	53	1137											
C17orf74	201243	broad.mit.edu	37	chr17	7329926	7329926	+	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	cacgtcgcggctggggcgggTtttatcagagagcgggcctg	5	8	18	10	5	1	1	1	0	0	1	2	2	1	1	1	5	1	2	1	5	1	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7329926T>G	ENST00000333870.3	+	3	690	c.616T>G	c.(616-618)Ttt>Gtt	p.F206V	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Missense_Mutation_p.V93G	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	206						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGGGGCGGGTTTTATCAGAG	0.617																																						.											0													61	68	66					17																	7329926		1986	4144	6130	SO:0001583	missense	201243			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.616T>G	17.37:g.7329926T>G	ENSP00000328061:p.Phe206Val			Missense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.400165	0.42613	.	.	ENSG00000184560	ENST00000333870	T	0.29397	1.57	4.18	-2.97	0.05530	.	0.539313	0.14997	N	0.286328	T	0.15046	0.0363	N	0.19112	0.55	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.15263	-1.0443	10	0.59425	D	0.04	-18.58	4.2722	0.10792	0.1662:0.2783:0.0:0.5555	.	206	Q0P670	CQ074_HUMAN	V	206	ENSP00000328061:F206V	ENSP00000328061:F206V	F	+	1	0	C17orf74	7270650	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.504000	0.02275	-0.285000	0.09089	-0.415000	0.06103	TTT		0.617	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		G	7329926	T	G	7329926	3	3	15	1	0	0	0	0	1	0	0	0	1879	1725	60	5	626	5	C17orf74	17	7329926	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10		7329926	73865284	54	1138											
AMAC1L3	643664	ucsc.edu	37	chr17	7385479	7385479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtgggccccctttctcAtatggcttaccaggcttcca	5	13	8	15	1	1	0	1	0	1	0	4	0	2	0	4	3	1	2	4	3	2	5			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7385479A>G	ENST00000412468.2	+	2	291	c.176A>G	c.(175-177)cAt>cGt	p.H59R	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	59	EamA 1.					integral component of membrane (GO:0016021)											CCCCTTTCTCATATGGCTTAC	0.632																																						.											0													98	103	101					17																	7385479		2203	4300	6503	SO:0001583	missense	643664				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.176A>G	17.37:g.7385479A>G	ENSP00000396523:p.His59Arg			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.796575	0.00617	.	.	ENSG00000181222	ENST00000412468	T	0.16597	2.33	4.21	3.24	0.37175	.	.	.	.	.	T	0.04679	0.0127	N	0.00926	-1.1	0.20703	N	0.999863	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	9	0.02654	T	1	-1.8351	9.504	0.39035	0.181:0.0:0.819:0.0	.	59	P0C7Q6	S35G6_HUMAN	R	59	ENSP00000396523:H59R	ENSP00000396523:H59R	H	+	2	0	SLC35G6	7326203	1.000000	0.71417	0.996000	0.52242	0.106000	0.19336	3.612000	0.54142	0.373000	0.24621	-0.355000	0.07637	CAT		0.632	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		G	7385479	A	G	7385479	3	3	15	1	0	0	0	0	1	0	0	0	561	217	8	4	182	4	AMAC1L3	17	7385479	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	55553	7385479	73809731	55	1139											
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	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	ggttcatgccgcccatgcagGaactgttacacatgtagttg	9	11	11	10	1	1	0	1	0	0	0	1	1	1	1	2	2	4	5	2	2	3	4	rs397516437|rs28934573		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	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;	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		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	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577559	G	A	7577559	3	1	15	1	0	0	0	0	1	0	0	0	16378	1174	41	3	568	3	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	192080	7577559	73617651	56	1140											
TP53	7157	bcgsc.ca	37	chr17	7578370	7578370	+	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	tctccagccccagctgctcaCcatcgctatctgagcagcgc	7	8	8	18	2	3	1	1	1	2	0	5	1	3	1	4	0	5	4	4	0	1	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)											48	46	47					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	7157	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;	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.559+1G>T	17.37:g.7578370C>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578370	C	A	7578370	5	1	15	1	0	0	0	0	0	0	1	0	16378	521	18	5	738	5	TP53	17	7578370	Splice_Site	SNP	C	TCGA-KL-8337-01A-11D-2310-10	811	7578370	73616840	57	1141											
DGKE	8526	ucsc.edu	37	chr17	54935999	54935999	+	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	aaagattgtttagtgcaagaAtgtaaagatttgaataaaaa	20	12	8	1	0	0	4	0	1	0	3	0	4	0	4	0	0	1	3	0	0	10	6			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:54935999A>T	ENST00000284061.3	+	9	1437	c.1257A>T	c.(1255-1257)gaA>gaT	p.E419D		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	419					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TAGTGCAAGAATGTAAAGATT	0.269																																						.											0													41	44	43					17																	54935999		2199	4297	6496	SO:0001583	missense	8526			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1257A>T	17.37:g.54935999A>T	ENSP00000284061:p.Glu419Asp		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159400	0.38119	.	.	ENSG00000153933	ENST00000284061	T	0.42513	0.97	5.49	2.03	0.26663	Diacylglycerol kinase, accessory domain (2);	0.045848	0.85682	D	0.000000	T	0.24084	0.0583	N	0.12746	0.255	0.80722	D	1	B;B	0.27594	0.182;0.182	B;B	0.33960	0.173;0.173	T	0.04041	-1.0982	10	0.21540	T	0.41	.	9.1053	0.36694	0.7885:0.0:0.2115:0.0	.	419;419	A1L4Q0;P52429	.;DGKE_HUMAN	D	419	ENSP00000284061:E419D	ENSP00000284061:E419D	E	+	3	2	DGKE	52290998	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.237000	0.51344	0.371000	0.24564	0.477000	0.44152	GAA		0.269	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		T	54935999	A	T	54935999	3	4	15	1	0	0	0	0	1	0	0	0	4468	98	4	5	1287	5	DGKE	17	54935999	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	47357629	54935999	26259211	58	1142											
BPTF	2186	bcgsc.ca	37	chr17	65907097	65907097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtaaattgtcaggagAgttctcaagtagatgtggtc	12	12	11	6	0	2	2	2	0	1	2	4	3	2	2	0	2	0	3	0	2	4	4			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr17:65907097A>G	ENST00000321892.4	+	13	3536	c.3475A>G	c.(3475-3477)Agt>Ggt	p.S1159G	BPTF_ENST00000335221.5_Missense_Mutation_p.S1159G|BPTF_ENST00000306378.6_Missense_Mutation_p.S1033G|BPTF_ENST00000424123.3_Missense_Mutation_p.S1020G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1159					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGTCAGGAGAGTTCTCAAGT	0.383																																						.											0													93	90	91					17																	65907097		2203	4300	6503	SO:0001583	missense	2186			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.3475A>G	17.37:g.65907097A>G	ENSP00000315454:p.Ser1159Gly		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	A	5.510	0.279120	0.10458	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62941	0.0;-0.01;-0.0	5.64	0.846	0.18955	.	.	.	.	.	T	0.44582	0.1300	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.11329	0.006;0.004	T	0.28267	-1.0049	9	0.38643	T	0.18	0.0342	6.1773	0.20451	0.6778:0.1243:0.1979:0.0	.	1033;1159	Q12830-2;Q12830-4	.;.	G	1033;1159;1159	ENSP00000307208:S1033G;ENSP00000334351:S1159G;ENSP00000315454:S1159G	ENSP00000307208:S1033G	S	+	1	0	BPTF	63337559	0.009000	0.17119	0.008000	0.14137	0.504000	0.33889	0.642000	0.24735	-0.070000	0.12908	0.528000	0.53228	AGT		0.383	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		G	65907097	A	G	65907097	3	3	15	1	0	0	0	0	1	0	0	0	1495	304	11	2	3525	2	BPTF	17	65907097	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	10971098	65907097	15288113	59	1143											
CTDP1	9150	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr18	77513733	77513733	+	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	aacgaggatgagggcagcagCtccgaggccgacgagatggc	11	3	17	10	4	0	2	0	1	0	1	1	7	1	3	2	4	3	3	2	4	1	0			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr18:77513733C>T	ENST00000299543.7	+	13	2976	c.2829C>T	c.(2827-2829)agC>agT	p.S943S	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	943					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGGGCAGCAGCTCCGAGGCCG	0.642																																						.											0													46	45	46					18																	77513733		2203	4300	6503	SO:0001819	synonymous_variant	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2829C>T	18.37:g.77513733C>T			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	CCDS12017.1																																																																																				0.642	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77513733	C	T	77513733	2	4	15	1	0	0	0	0	0	0	0	1	4002	796	28	4		4	CTDP1	18	77513733	Silent	SNP	C	TCGA-KL-8337-01A-11D-2310-10		77513733	563515	60	1144											
GPR108	56927	mdanderson.org	37	chr19	6737481	6737481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccgtcagcgccagcTggtggatgcgcccggagcag	6	5	15	15	4	2	0	2	0	0	0	2	2	2	2	4	3	4	2	4	3	0	0	rs340138	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:6737481T>C	ENST00000264080.7	-	1	133	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	TRIP10_ENST00000313244.9_5'Flank|TRIP10_ENST00000313285.8_5'Flank|TRIP10_ENST00000596758.1_5'Flank|GPR108_ENST00000430424.4_5'Flank|TRIP10_ENST00000600428.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	36			Q -> R (in dbSNP:rs340138). {ECO:0000269|Ref.2, ECO:0000269|Ref.4}.			integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CAGCGCCAGCTGGTGGATGCG	0.726													C|||	4440	0.886581	0.8434	0.9236	5008	,	,		10979	0.9861		0.8936	False		,,,				2504	0.8088					.											0								C	ARG/GLN	3027,409		1332,363,23	5	8	7		107	3.1	1	19	dbSNP_79	7	6743,857		2996,751,53	no	missense	GPR108	NM_001080452.1	43	4328,1114,76	CC,CT,TT		11.2763,11.9034,11.4715	benign	36/544	6737481	9770,1266	1718	3800	5518	SO:0001583	missense	56927				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.107A>G	19.37:g.6737481T>C	ENSP00000264080:p.Gln36Arg		B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	1973	0.9033882783882784	409	0.8313008130081301	332	0.9171270718232044	565	0.9877622377622378	667	0.8799472295514512	C	4.694	0.128956	0.08981	0.880966	0.887237	ENSG00000125734	ENST00000264080	T	0.20738	2.05	4.2	3.1	0.35709	.	0.309721	0.25663	N	0.029139	T	0.00012	0.0000	N	0.00099	-2.14	0.09310	P	0.999999999395269	B	0.02656	0.0	B	0.01281	0.0	T	0.36890	-0.9729	9	0.16896	T	0.51	-4.2341	5.3586	0.16075	0.0:0.7344:0.0:0.2656	rs340138;rs344628;rs1193120;rs1193215;rs3745557;rs3947071;rs11539589;rs59869501;rs340138	36	Q9NPR9	GP108_HUMAN	R	36	ENSP00000264080:Q36R	ENSP00000264080:Q36R	Q	-	2	0	GPR108	6688481	0.989000	0.36119	1.000000	0.80357	0.926000	0.56050	0.194000	0.17135	0.997000	0.38969	-0.215000	0.12644	CAG		0.726	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			C	6737481	T	C	6737481	3	2	15	1	0	0	0	0	1	0	0	0	6624	1580	55	2	1596	2	GPR108	19	6737481	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10		6737481	52391502	61	1145											
TMEM205	374882	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	11453585	11453585	+	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	gagaggacagcccatggtagCggaagaaattctggcggaga	13	5	16	7	2	1	3	0	0	1	3	1	7	1	5	1	5	2	1	1	5	3	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:11453585C>T	ENST00000354882.5	-	3	902	c.476G>A	c.(475-477)cGc>cAc	p.R159H	TMEM205_ENST00000587948.1_Missense_Mutation_p.R159H|TMEM205_ENST00000586218.1_Missense_Mutation_p.R98H|TMEM205_ENST00000588560.1_Missense_Mutation_p.R159H|TMEM205_ENST00000593256.2_Missense_Mutation_p.R159H|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000586590.1_Missense_Mutation_p.R159H|TMEM205_ENST00000586956.1_Missense_Mutation_p.R159H|TMEM205_ENST00000447337.1_Missense_Mutation_p.R159H|TMEM205_ENST00000589555.1_Missense_Mutation_p.R159H			Q6UW68	TM205_HUMAN	transmembrane protein 205	159						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CCCATGGTAGCGGAAGAAATT	0.607																																						.											0													117	108	111					19																	11453585		2203	4300	6503	SO:0001583	missense	374882			AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.476G>A	19.37:g.11453585C>T	ENSP00000346954:p.Arg159His			Missense_Mutation	SNP	ENST00000354882.5	37	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	C	9.193	1.026438	0.19512	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.82	-1.58	0.08479	.	0.304262	0.31519	N	0.007512	T	0.40886	0.1135	L	0.39898	1.24	0.43368	D	0.995457	B	0.11235	0.004	B	0.06405	0.002	T	0.15867	-1.0422	9	0.19147	T	0.46	-3.7126	10.4082	0.44276	0.0:0.4892:0.0:0.5108	.	159	Q6UW68	TM205_HUMAN	H	159	.	ENSP00000346954:R159H	R	-	2	0	TMEM205	11314585	0.906000	0.30813	0.936000	0.37596	0.393000	0.30537	0.156000	0.16382	-0.129000	0.11620	0.561000	0.74099	CGC		0.607	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		T	11453585	C	T	11453585	3	4	15	1	0	0	0	0	1	0	0	0	16127	768	27	1	97	1	TMEM205	19	11453585	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	4716104	11453585	47675398	62	1146											
INSL3	3640	ucsc.edu	37	chr19	17932190	17932190	+	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	gggcccccgcacacgcgcacTagcgcgcgtacgaagtggtg	7	4	15	15	7	0	0	0	0	0	0	0	1	0	0	2	2	2	3	2	2	3	2	rs1047233	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:17932190T>C	ENST00000317306.7	-	1	142	c.126A>G	c.(124-126)ctA>ctG	p.L42L	INSL3_ENST00000379695.5_Silent_p.L42L	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	42					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						ACACGCGCACTAGCGCGCGTA	0.721													C|||	1288	0.257188	0.3941	0.3127	5008	,	,		12303	0.005		0.4076	False		,,,				2504	0.138					.											0								C		1224,2548		247,730,909	4	7	6		126	-1.9	1	19	dbSNP_86	6	2298,4938		486,1326,1806	no	coding-synonymous	INSL3	NM_005543.2		733,2056,2715	CC,CT,TT		31.7579,32.4496,31.9949		42/132	17932190	3522,7486	1886	3618	5504	SO:0001819	synonymous_variant	3640				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.126A>G	19.37:g.17932190T>C			B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Silent	SNP	ENST00000317306.7	37	CCDS12365.1																																																																																				0.721	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		C	17932190	T	C	17932190	2	2	15	1	0	0	0	0	0	0	0	1	7767	1509	53	2		2	INSL3	19	17932190	Silent	SNP	T	TCGA-KL-8337-01A-11D-2310-10	6478605	17932190	41196793	63	1147											
ZNF98	148198	broad.mit.edu	37	chr19	22575373	22575373	+	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	atgtgtagaaaggtttgaggCctcattataggctttcccac	10	13	10	8	0	1	2	1	1	0	1	2	2	2	2	2	3	0	3	2	3	4	5	rs201074450		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:22575373C>T	ENST00000357774.5	-	4	785	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGTTTGAGGCCTCATTATAG	0.383																																						.											0													12	13	13					19																	22575373		1871	4124	5995	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.664G>A	19.37:g.22575373C>T	ENSP00000350418:p.Ala222Thr			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	4.784	0.145770	0.09134	.	.	ENSG00000197360	ENST00000357774	T	0.33654	1.4	1.28	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	N	0.17674	0.51	0.09310	N	1	B	0.22541	0.071	B	0.25987	0.065	T	0.27262	-1.0079	9	0.39692	T	0.17	.	0.0814	0.00032	0.2369:0.2268:0.2367:0.2996	.	222	A6NK75	ZNF98_HUMAN	T	222	ENSP00000350418:A222T	ENSP00000350418:A222T	A	-	1	0	ZNF98	22367213	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.793000	0.04589	-0.223000	0.09943	0.305000	0.20034	GCC		0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		T	22575373	C	T	22575373	3	4	15	1	0	0	0	0	1	0	0	0	18200	739	26	3	1058	3	ZNF98	19	22575373	Missense_Mutation	SNP	C	TCGA-KL-8337-01A-11D-2310-10	4643183	22575373	36553610	64	1148											
ZNF254	9534	ucsc.edu	37	chr19	24310753	24310753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctcaccacagataagataActcattggagagaaatctta	17	9	6	9	0	3	3	2	0	1	3	3	5	3	4	2	1	1	0	2	1	4	4			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:24310753A>G	ENST00000357002.4	+	4	2066	c.1951A>G	c.(1951-1953)Act>Gct	p.T651A	ZNF254_ENST00000342944.6_Missense_Mutation_p.T566A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	651					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGATAAGATAACTCATTGGAG	0.363																																						.											0													78	83	81					19																	24310753		2202	4297	6499	SO:0001583	missense	9534			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1951A>G	19.37:g.24310753A>G	ENSP00000349494:p.Thr651Ala		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	6.168	0.399173	0.11696	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.06768	3.26;3.41	0.525	0.525	0.17072	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	L	0.54965	1.715	0.19575	N	0.999965	B	0.06786	0.001	B	0.04013	0.001	T	0.30621	-0.9972	9	0.66056	D	0.02	.	5.2926	0.15735	0.9999:0.0:1.0E-4:0.0	.	651	O75437	ZN254_HUMAN	A	566;651;343	ENSP00000445527:T566A;ENSP00000349494:T651A	ENSP00000445527:T566A	T	+	1	0	ZNF254	24102593	0.000000	0.05858	0.027000	0.17364	0.015000	0.08874	0.213000	0.17521	0.446000	0.26666	0.254000	0.18369	ACT		0.363	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		G	24310753	A	G	24310753	3	3	15	1	0	0	0	0	1	0	0	0	17795	43	2	2	1965	2	ZNF254	19	24310753	Missense_Mutation	SNP	A	TCGA-KL-8337-01A-11D-2310-10	1735380	24310753	34818230	65	1149											
EML2	24139	broad.mit.edu	37	chr19	46124887	46124887	+	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	cagcaccgcctgtgtgatacGgttcccacctgcagggtggc	6	8	13	14	2	0	1	0	1	0	0	1	1	1	1	4	3	3	3	4	3	1	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:46124887G>A	ENST00000245925.3	-	10	900	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000587152.1_Missense_Mutation_p.R485C|EML2_ENST00000589876.1_Missense_Mutation_p.R284C|EML2_ENST00000536630.1_Missense_Mutation_p.R431C	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	284	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGTGTGATACGGTTCCCACCT	0.662																																						.											0													20	21	21					19																	46124887		2202	4295	6497	SO:0001583	missense	24139			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.850C>T	19.37:g.46124887G>A	ENSP00000245925:p.Arg284Cys		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083522	0.55861	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.39406	1.08;1.08;5.0	3.1	3.1	0.35709	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.069226	0.56097	U	0.000031	T	0.58850	0.2151	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.962;0.972;0.996;0.95	T	0.60642	-0.7223	10	0.62326	D	0.03	-16.5272	7.354	0.26709	0.0:0.0:0.739:0.261	.	284;450;431;284	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	C	431;284;485;442	ENSP00000442365:R431C;ENSP00000245925:R284C;ENSP00000382503:R442C	ENSP00000245925:R284C	R	-	1	0	EML2	50816727	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.887000	0.56197	1.565000	0.49641	0.195000	0.17529	CGT		0.662	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		A	46124887	G	A	46124887	3	1	15	1	0	0	0	0	1	0	0	0	5097	1116	39	1	1139	1	EML2	19	46124887	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10	21814134	46124887	13004096	66	1150											
NLRP11	204801	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	56321650	56321650	+	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	attttccaaaagtgtgacttTcccattgcagcatgaatttt	11	16	6	8	0	0	2	0	2	0	0	2	2	2	2	2	0	2	2	2	0	3	6			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr19:56321650T>G	ENST00000589093.1	-	3	419	c.326A>C	c.(325-327)gAa>gCa	p.E109A	NLRP11_ENST00000592953.1_Missense_Mutation_p.E10A|NLRP11_ENST00000360133.3_Missense_Mutation_p.E109A|NLRP11_ENST00000443188.1_Missense_Mutation_p.E109A|NLRP11_ENST00000589824.2_Missense_Mutation_p.E109A			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	109							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTGTGACTTTCCCATTGCAG	0.378																																						.											0													41	41	41					19																	56321650		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.326A>C	19.37:g.56321650T>G	ENSP00000466285:p.Glu109Ala		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	5.794	0.330843	0.10956	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74526	-0.85;-0.79	1.99	1.99	0.26369	.	.	.	.	.	T	0.55862	0.1947	N	0.08118	0	0.09310	N	1	B;B	0.28584	0.138;0.216	B;B	0.37731	0.131;0.257	T	0.50750	-0.8791	9	0.34782	T	0.22	.	5.9904	0.19458	0.0:0.0:0.0:1.0	.	109;109	P59045;P59045-2	NAL11_HUMAN;.	A	109	ENSP00000409898:E109A;ENSP00000353251:E109A	ENSP00000353251:E109A	E	-	2	0	NLRP11	61013462	0.011000	0.17503	0.028000	0.17463	0.008000	0.06430	0.622000	0.24433	1.168000	0.42723	0.533000	0.62120	GAA		0.378	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		G	56321650	T	G	56321650	3	3	15	1	0	0	0	0	1	0	0	0	10473	1783	62	5	2807	5	NLRP11	19	56321650	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	10196763	56321650	2807333	67	1151											
VSX1	30813	mdanderson.org	37	chr20	25062342	25062342	+	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	gctgtcgctgcgcttctggcGgccgagcgcaggcggcggac	3	6	18	14	7	1	0	0	0	1	0	2	2	1	1	1	5	2	4	1	5	0	1	rs6050307	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr20:25062342G>T	ENST00000376709.4	-	1	654	c.391C>A	c.(391-393)Cgc>Agc	p.R131S	VSX1_ENST00000398332.1_Missense_Mutation_p.R131S|VSX1_ENST00000444511.2_Missense_Mutation_p.R131S|VSX1_ENST00000429762.3_Missense_Mutation_p.R131S|VSX1_ENST00000451258.1_Missense_Mutation_p.R131S|VSX1_ENST00000424574.1_Missense_Mutation_p.R131S|VSX1_ENST00000376707.3_Missense_Mutation_p.R131S	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	131			R -> S (in dbSNP:rs6050307). {ECO:0000269|PubMed:15051220}.		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						CGCTTCTGGCGGCCGAGCGCA	0.741													G|||	206	0.0411342	0.1483	0.0144	5008	,	,		11176	0		0	False		,,,				2504	0					.											0								G	SER/ARG,SER/ARG	328,3228		8,312,1458	4	4	4		391,391	-3.9	0	20	dbSNP_114	4	13,6761		0,13,3374	yes	missense,missense	VSX1	NM_014588.4,NM_199425.1	110,110	8,325,4832	TT,TG,GG		0.1919,9.2238,3.3011	benign,benign	131/366,131/240	25062342	341,9989	1778	3387	5165	SO:0001583	missense	30813			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.391C>A	20.37:g.25062342G>T	ENSP00000365899:p.Arg131Ser		B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Missense_Mutation	SNP	ENST00000376709.4	37	CCDS13168.1	90	0.04120879120879121	82	0.16666666666666666	8	0.022099447513812154	0	0.0	0	0.0	G	3.761	-0.049660	0.07407	0.092238	0.001919	ENSG00000100987	ENST00000429762;ENST00000444511;ENST00000424574;ENST00000451258;ENST00000376709;ENST00000376707;ENST00000398332	D;D;D;D;D;D;T	0.91792	-2.73;-2.91;-2.72;-2.77;-2.82;-2.83;-0.0	4.14	-3.91	0.04168	.	1.617690	0.02904	N	0.135773	T	0.00412	0.0013	N	0.00926	-1.1	0.80722	P	0.0	B;B;B;B	0.09022	0.001;0.0;0.002;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.56992	-0.7887	9	0.06625	T	0.88	.	0.1523	0.00094	0.3252:0.149:0.2095:0.3163	rs6050307;rs61429181	131;131;131;131	Q9NZR4-7;Q9NZR4-8;Q9NZR4-2;Q9NZR4	.;.;.;VSX1_HUMAN	S	131	ENSP00000401690:R131S;ENSP00000387720:R131S;ENSP00000399496:R131S;ENSP00000389654:R131S;ENSP00000365899:R131S;ENSP00000365897:R131S;ENSP00000381376:R131S	ENSP00000365897:R131S	R	-	1	0	VSX1	25010342	0.000000	0.05858	0.000000	0.03702	0.543000	0.35085	-0.882000	0.04174	-0.591000	0.05859	0.563000	0.77884	CGC		0.741	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			T	25062342	G	T	25062342	3	4	15	1	0	0	0	0	1	0	0	0	17228	1116	39	5	819	5	VSX1	20	25062342	Missense_Mutation	SNP	G	TCGA-KL-8337-01A-11D-2310-10		25062342	37963178	68	1152											
COL9A3	1299	broad.mit.edu	37	chr20	61450635	61450636	+	Frame_Shift_Ins	INS	-	-	G																															gctgggctgccgggactgccINSgggtgtggatgtgagtgcgc																								rs146260681|rs199653123		TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr20:61450635_61450636insG	ENST00000343916.3	+	4	248_249	c.245_246insG	c.(244-249)ccgggtfs	p.PG82fs		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	82	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)					CCGGGACTGCCGGGTGTGGATG	0.688																																						.											0																																										SO:0001589	frameshift_variant	1299			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.248dupG	20.37:g.61450638_61450638dupG	ENSP00000341640:p.Pro82fs		Q13681|Q9H4G9|Q9UPE2	Frame_Shift_Ins	INS	ENST00000343916.3	37	CCDS13505.1																																																																																				0.688	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		G	61450636	-	G	61450635	7	5	15	1	0	1	1	0	0	0	0	0	3709	652	23	0	259	0	COL9A3	20	61450635	Frame_Shift_Ins	INS	-	TCGA-KL-8337-01A-11D-2310-10	36388293	61450635	1574885	69	1153											
PRIC285	85441	mdanderson.org	37	chr20	62195726	62195726	+	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	cacgcggccacgacgcaggcGtccacggagtccaggcgggc	7	2	16	16	7	0	0	0	0	0	0	2	2	2	1	3	5	0	1	3	5	0	0	rs45469491	byFrequency	TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr20:62195726G>A	ENST00000467148.1	-	8	4518	c.4449C>T	c.(4447-4449)gaC>gaT	p.D1483D	HELZ2_ENST00000427522.2_Silent_p.D914D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1483					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)										CGACGCAGGCGTCCACGGAGT	0.711													G|||	242	0.0483227	0.121	0.0418	5008	,	,		15557	0.002		0.0467	False		,,,				2504	0.0041					.											0								G	,	377,3757		16,345,1706	5	5	5		4449,2742	-7.8	0.3	20	dbSNP_127	5	202,7874		1,200,3837	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	17,545,5543	AA,AG,GG		2.5012,9.1195,4.742	,	1483/2650,914/2081	62195726	579,11631	2067	4038	6105	SO:0001819	synonymous_variant	85441			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.4449C>T	20.37:g.62195726G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62195726	G	A	62195726	2	1	15	1	0	0	0	0	0	0	0	1	12485	1136	40	1		1	PRIC285	20	62195726	Silent	SNP	G	TCGA-KL-8337-01A-11D-2310-10	745091	62195726	829794	70	1154											
PPM1F	9647	ucsc.edu	37	chr22	22287827	22287827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttctctgagggctcccTcagggtctgtgggcagctct	4	11	14	12	0	4	1	1	1	3	0	6	1	5	1	1	4	1	4	1	4	0	1			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr22:22287827T>C	ENST00000263212.5	-	5	788	c.683A>G	c.(682-684)gAg>gGg	p.E228G	PPM1F_ENST00000538191.1_Missense_Mutation_p.E124G|PPM1F_ENST00000407142.1_Missense_Mutation_p.E60G|PPM1F_ENST00000397495.4_Missense_Mutation_p.E228G	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	228					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GAGGGCTCCCTCAGGGTCTGT	0.642																																						.											0													59	54	55					22																	22287827		2203	4300	6503	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.683A>G	22.37:g.22287827T>C	ENSP00000263212:p.Glu228Gly		A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882171	0.33255	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495;ENST00000445205	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	4.96	2.81	0.32909	Protein phosphatase 2C-like (5);	0.279101	0.38720	N	0.001592	T	0.15305	0.0369	L	0.33753	1.03	0.09310	N	1	B;B;B	0.12630	0.006;0.003;0.0	B;B;B	0.15484	0.012;0.013;0.005	T	0.19516	-1.0303	10	0.32370	T	0.25	-21.7728	10.4831	0.44706	0.0:0.1197:0.4748:0.4056	.	124;228;228	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	G	228;60;60;124;228;60	ENSP00000263212:E228G;ENSP00000384930:E60G;ENSP00000439915:E124G;ENSP00000380632:E228G;ENSP00000392372:E60G	ENSP00000263212:E228G	E	-	2	0	PPM1F	20617827	0.006000	0.16342	0.007000	0.13788	0.000000	0.00434	1.462000	0.35266	0.246000	0.21394	-1.338000	0.01255	GAG		0.642	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		C	22287827	T	C	22287827	3	2	15	1	0	0	0	0	1	0	0	0	12339	1551	54	2	697	2	PPM1F	22	22287827	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10		22287827	29016739	71	1155											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421307	39421307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattggcggtgggtgctccTcaggctgcataaggcagggg	7	8	18	8	1	1	1	1	0	0	1	2	1	2	1	1	7	2	4	1	7	1	2			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr22:39421307T>C	ENST00000216099.8	+	3	850	c.443T>C	c.(442-444)cTc>cCc	p.L148P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.L148P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	148					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGGGTGCTCCTCAGGCTGCAT	0.582																																						.											0													48	52	50					22																	39421307		2203	4300	6503	SO:0001583	missense	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.443T>C	22.37:g.39421307T>C	ENSP00000216099:p.Leu148Pro		Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.406990	0.42715	.	.	ENSG00000243811	ENST00000381568;ENST00000216099	T;T	0.67865	-0.29;-0.29	2.44	-4.53	0.03462	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.46073	0.1374	L	0.29908	0.895	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.19289	-1.0310	9	0.48119	T	0.1	.	3.8466	0.08937	0.3382:0.0:0.4:0.2618	.	148;148	B2CML4;Q96AK3	.;ABC3D_HUMAN	P	148	ENSP00000370980:L148P;ENSP00000216099:L148P	ENSP00000216099:L148P	L	+	2	0	APOBEC3D	37751253	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.614000	0.24314	-1.624000	0.01556	-0.258000	0.10820	CTC		0.582	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		C	39421307	T	C	39421307	3	2	15	1	0	0	0	0	1	0	0	0	792	1551	54	2	453	2	APOBEC3D	22	39421307	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	17133480	39421307	11883259	72	1156											
ARHGAP8	23779	ucsc.edu	37	chr22	45204237	45204237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacgattataccatcgTctatttccactacgggctga	11	12	8	10	3	1	2	0	2	1	1	3	4	2	2	2	1	3	1	2	1	5	5			TCGA-KL-8337-01A-11D-2310-10	TCGA-KL-8337-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3fd2ee0-3dd0-4992-9a9f-75e487b43441	48a0412d-0d33-43a8-9079-ccd5b28bef22	g.chr22:45204237T>C	ENST00000389774.2	+	4	359	c.218T>C	c.(217-219)gTc>gCc	p.V73A	PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V204A|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73A|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195A|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73A	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	73	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TATACCATCGTCTATTTCCAC	0.478																																						.											0													88	78	82					22																	45204237		2203	4300	6503	SO:0001583	missense	553158			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.218T>C	22.37:g.45204237T>C	ENSP00000374424:p.Val73Ala		A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.77|12.77	2.036253|2.036253	0.35893|0.35893	.|.	.|.	ENSG00000248405|ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000515632|ENST00000361473;ENST00000389773;ENST00000389774;ENST00000396119;ENST00000336963;ENST00000356099;ENST00000412433	.|T;T;T;T;T;T;T	.|0.76186	.|-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	4.34|4.34	3.27|3.27	0.37495|0.37495	.|Cellular retinaldehyde-binding/triple function, C-terminal (4);	.|0.222293	.|0.22584	.|U	.|0.058178	T|T	0.77705|0.77705	0.4170|0.4170	L|L	0.58669|0.58669	1.825|1.825	0.44048|0.44048	D|D	0.996789|0.996789	.|P;P;P;P;P;P;P	.|0.48503	.|0.809;0.624;0.517;0.809;0.911;0.802;0.835	.|P;B;B;P;P;P;P	.|0.53518	.|0.639;0.279;0.205;0.639;0.7;0.607;0.728	T|T	0.76838|0.76838	-0.2811|-0.2811	5|10	.|0.59425	.|D	.|0.04	.|.	10.5667|10.5667	0.45177|0.45177	0.0:0.0:0.1625:0.8375|0.0:0.0:0.1625:0.8375	.|.	.|109;73;109;73;114;195;204	.|B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;F8W6F3;B1AHC3	.|.;.;.;RHG08_HUMAN;.;.;.	P|A	127|204;195;73;73;73;73;73	.|ENSP00000354732:V204A;ENSP00000374423:V195A;ENSP00000374424:V73A;ENSP00000379425:V73A;ENSP00000337287:V73A;ENSP00000348407:V73A;ENSP00000402775:V73A	.|ENSP00000337287:V73A	S|V	+|+	1|2	0|0	PRR5-ARHGAP8|PRR5-ARHGAP8;ARHGAP8	43582901|43582901	1.000000|1.000000	0.71417|0.71417	0.815000|0.815000	0.32552|0.32552	0.154000|0.154000	0.21943|0.21943	6.995000|6.995000	0.76257|0.76257	0.663000|0.663000	0.31027|0.31027	0.482000|0.482000	0.46254|0.46254	TCT|GTC		0.478	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		C	45204237	T	C	45204237	3	2	15	1	0	0	0	0	1	0	0	0	888	1667	58	2	228	2	ARHGAP8	22	45204237	Missense_Mutation	SNP	T	TCGA-KL-8337-01A-11D-2310-10	5782930	45204237	6100329	73	1157											
ATAD3B	83858	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	1425803	1425803	+	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	agccggccacagaaggaaaaCggtgagtgtcccgcctcacc	11	4	12	14	3	1	2	1	1	0	1	2	3	2	3	5	3	2	0	5	3	3	0	rs371526893		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:1425803C>T	ENST00000308647.7	+	14	1620	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	502						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)		AGAAGGAAAACGGTGAGTGTC	0.617																																						.											0								C	TRP/ARG	0,4406		0,0,2203	63	53	56		1504	2	1	1		56	1,8597		0,1,4298	no	missense-near-splice	ATAD3B	NM_031921.4	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	502/649	1425803	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	83858			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.1505+1C>T	1.37:g.1425803C>T			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.89|12.89	2.072670|2.072670	0.36566|0.36566	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160072|ENSG00000160072	ENST00000378737|ENST00000308647	.|T	.|0.20738	.|2.05	2.03|2.03	2.03|2.03	0.26663|0.26663	.|.	0.059036|0.059036	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.28699|0.28699	0.0711|0.0711	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;P	.|0.69078	.|0.997;0.952	.|P;P	.|0.54924	.|0.764;0.453	T|T	0.08006|0.08006	-1.0743|-1.0743	7|10	0.66056|0.66056	D|D	0.02|0.02	.|.	11.3705|11.3705	0.49697|0.49697	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|456;502	.|Q5T9A4-3;Q5T9A4	.|.;ATD3B_HUMAN	C|W	305|502	.|ENSP00000311766:R502W	ENSP00000368011:R305C|ENSP00000311766:R502W	R|R	+|+	1|1	0|2	ATAD3B|ATAD3B	1415666|1415666	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.013000|0.013000	0.08279|0.08279	7.417000|7.417000	0.80156|0.80156	1.135000|1.135000	0.42183|0.42183	0.194000|0.194000	0.17425|0.17425	CGC|CGG		0.617	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	Missense_Mutation	T	1425803	C	T	1425803	5	4	16	1	0	0	0	0	0	0	1	0	1074	550	19	1	1558	1	ATAD3B	1	1425803	Splice_Site	SNP	C	TCGA-KL-8338-01A-11D-2310-10		1425803	247824818	1	1158											
ZBTB40	9923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	22839532	22839532	+	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	aaccaccttcgccttcacacCggggaccgcccgttcatgtg	7	8	9	17	4	2	0	2	0	0	0	3	1	2	1	6	2	1	1	6	2	1	3			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:22839532C>T	ENST00000375647.4	+	12	2784	c.2577C>T	c.(2575-2577)acC>acT	p.T859T	ZBTB40_ENST00000374651.4_Silent_p.T747T|ZBTB40_ENST00000404138.1_Silent_p.T859T	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	859					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCCTTCACACCGGGGACCGCC	0.572																																						.											0													85	69	74					1																	22839532		2203	4300	6503	SO:0001819	synonymous_variant	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2577C>T	1.37:g.22839532C>T			O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	CCDS224.1																																																																																				0.572	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		T	22839532	C	T	22839532	2	4	16	1	0	0	0	0	0	0	0	1	17539	639	23	1		1	ZBTB40	1	22839532	Silent	SNP	C	TCGA-KL-8338-01A-11D-2310-10	21413729	22839532	226411089	2	1159											
LEPR	3953	bcgsc.ca	37	chr1	66058516	66058516	+	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	tggtggagtaattttccagtCacctctaatgtcagttcagc	9	14	9	9	0	4	0	3	0	1	0	5	1	5	1	2	2	1	2	2	2	2	5			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:66058516C>T	ENST00000349533.6	+	6	856	c.671C>T	c.(670-672)tCa>tTa	p.S224L	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.S224L|LEPR_ENST00000344610.8_Missense_Mutation_p.S224L|LEPR_ENST00000371058.1_Missense_Mutation_p.S224L|LEPR_ENST00000371059.3_Missense_Mutation_p.S224L|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTTTCCAGTCACCTCTAATG	0.368																																						.											0													94	92	93					1																	66058516		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.671C>T	1.37:g.66058516C>T	ENSP00000330393:p.Ser224Leu		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657442	0.88154	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.66099	-0.15;-0.16;-0.14;-0.19;-0.15	5.96	5.05	0.67936	.	0.189176	0.48286	D	0.000188	T	0.75882	0.3910	M	0.83603	2.65	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	0.81391	-0.0954	10	0.87932	D	0	-8.9527	14.8905	0.70606	0.0:0.9306:0.0:0.0694	.	224;224;224	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	L	224	ENSP00000340884:S224L;ENSP00000330393:S224L;ENSP00000360099:S224L;ENSP00000360098:S224L;ENSP00000360097:S224L	ENSP00000340884:S224L	S	+	2	0	LEPR	65831104	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	3.676000	0.54612	1.536000	0.49237	0.650000	0.86243	TCA		0.368	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		T	66058516	C	T	66058516	3	4	16	1	0	0	0	0	1	0	0	0	8728	838	29	4	685	4	LEPR	1	66058516	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	43218984	66058516	183192105	3	1160											
RPAP2	79871	bcgsc.ca	37	chr1	92799023	92799023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgtacttgaaaagttgAgtaaagtgtaagtatgtaat	15	13	10	3	1	0	2	0	2	0	0	1	2	0	2	0	0	1	7	0	0	8	7			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:92799023A>G	ENST00000610020.1	+	9	1640	c.1531A>G	c.(1531-1533)Agt>Ggt	p.S511G		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	511					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGAAAAGTTGAGTAAAGTGTA	0.333																																						.											0													119	117	118					1																	92799023		2203	4300	6503	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1531A>G	1.37:g.92799023A>G	ENSP00000476948:p.Ser511Gly		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490173	0.44249	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.49	4.35	0.52113	.	0.373385	0.36268	N	0.002681	T	0.36799	0.0980	L	0.54323	1.7	0.29479	N	0.856522	B	0.28713	0.22	B	0.28139	0.086	T	0.36261	-0.9755	8	0.59425	D	0.04	-3.388	12.1141	0.53856	0.7298:0.2702:0.0:0.0	.	511	Q8IXW5	RPAP2_HUMAN	G	511	.	ENSP00000359368:S511G	S	+	1	0	RPAP2	92571611	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.397000	0.52572	0.905000	0.36596	0.397000	0.26171	AGT		0.333	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		G	92799023	A	G	92799023	3	3	16	1	0	0	0	0	1	0	0	0	13542	304	11	2	1565	2	RPAP2	1	92799023	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10	26740507	92799023	156451598	4	1161											
TCHH	7062	bcgsc.ca	37	chr1	152084677	152084677	+	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	tctcctcctgctcgcgcctcAgctgctgctcgcgcctctcc	1	11	8	21	4	3	0	1	0	2	0	8	0	4	0	5	0	4	4	5	0	0	0	rs199649490		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:152084677A>T	ENST00000368804.1	-	2	1015	c.1016T>A	c.(1015-1017)cTg>cAg	p.L339Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	339	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)			ctcgcgcctcagctgctgctc	0.706																																						.											0													11	15	14					1																	152084677		1976	4035	6011	SO:0001583	missense	7062			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.1016T>A	1.37:g.152084677A>T	ENSP00000357794:p.Leu339Gln		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	6.735	0.504431	0.12822	.	.	ENSG00000159450	ENST00000368804	T	0.06218	3.33	3.82	-4.1	0.03940	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.14023	0.01	T	0.48031	-0.9070	9	0.13470	T	0.59	.	4.258	0.10726	0.2515:0.0:0.1873:0.5612	.	339	Q07283	TRHY_HUMAN	Q	339	ENSP00000357794:L339Q	ENSP00000357794:L339Q	L	-	2	0	TCHH	150351301	0.000000	0.05858	0.024000	0.17045	0.001000	0.01503	-1.403000	0.02497	-0.646000	0.05452	-2.794000	0.00115	CTG		0.706	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152084677	A	T	152084677	3	4	16	1	0	0	0	0	1	0	0	0	15697	188	7	5	4819	5	TCHH	1	152084677	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10	59285654	152084677	97165944	5	1162											
PIK3C2B	5287	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	204415184	204415184	+	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	agcccactcccagctgggggCgctggcgagcaccaggggga	7	3	17	14	2	0	0	0	0	0	0	1	2	1	1	3	5	3	3	3	5	0	0			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:204415184C>T	ENST00000367187.3	-	17	3134	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	PIK3C2B_ENST00000424712.2_Intron	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	860	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			CAGCTGGGGGCGCTGGCGAGC	0.622											OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													64	66	65					1																	204415184		2203	4300	6503	SO:0001583	missense	5287			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.2578G>A	1.37:g.204415184C>T	ENSP00000356155:p.Ala860Thr	2144	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.884921	0.97068	.	.	ENSG00000133056	ENST00000367187	T	0.61510	0.1	5.33	5.33	0.75918	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.75326	-0.3357	10	0.51188	T	0.08	.	18.6702	0.91508	0.0:1.0:0.0:0.0	.	860	O00750	P3C2B_HUMAN	T	860	ENSP00000356155:A860T	ENSP00000356155:A860T	A	-	1	0	PIK3C2B	202681807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.942000	0.63547	2.516000	0.84829	0.460000	0.39030	GCC		0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		T	204415184	C	T	204415184	3	4	16	1	0	0	0	0	1	0	0	0	11910	768	27	1	2398	1	PIK3C2B	1	204415184	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	52330507	204415184	44835437	6	1163											
OR13G1	441933	mdanderson.org;bcgsc.ca	37	chr1	247835950	247835950	+	Missense_Mutation	SNP	T	T	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	acacatatggtggttcataaTagtactgtaatgaagaggga	15	11	11	4	0	1	2	1	1	0	1	1	3	1	3	0	3	1	3	0	3	6	6	rs1151640	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:247835950T>C	ENST00000359688.2	-	1	415	c.394A>G	c.(394-396)Att>Gtt	p.I132V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	132			I -> V (in dbSNP:rs1151640).			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)			TGGTTCATAATAGTACTGTAA	0.468													T|||	2033	0.40595	0.1286	0.5937	5008	,	,		22510	0.6032		0.4195	False		,,,				2504	0.4305					.											0			GRCh37	CM053366	OR13G1	M	rs1151640	T	VAL/ILE	739,3667	305.5+/-289.0	58,623,1522	101	84	90		394	-3.4	0	1	dbSNP_87	90	3654,4946	525.3+/-380.7	772,2110,1418	yes	missense	OR13G1	NM_001005487.1	29	830,2733,2940	CC,CT,TT		42.4884,16.7726,33.7767	benign	132/308	247835950	4393,8613	2203	4300	6503	SO:0001583	missense	441933			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.394A>G	1.37:g.247835950T>C	ENSP00000352717:p.Ile132Val		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	CCDS31094.1	960	0.43956043956043955	65	0.13211382113821138	204	0.56353591160221	372	0.6503496503496503	319	0.420844327176781	T	3.452	-0.111750	0.06881	0.167726	0.424884	ENSG00000197437	ENST00000359688	T	0.00695	5.83	4.2	-3.4	0.04853	GPCR, rhodopsin-like superfamily (1);	0.680368	0.12654	N	0.450235	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.09022	0.002	B	0.11329	0.006	T	0.07404	-1.0774	9	0.17832	T	0.49	-11.8146	5.9215	0.19084	0.0:0.1648:0.4093:0.4259	rs1151640;rs52796519;rs57652947;rs1151640	132	Q8NGZ3	O13G1_HUMAN	V	132	ENSP00000352717:I132V	ENSP00000352717:I132V	I	-	1	0	OR13G1	245902573	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.022000	0.12480	-0.755000	0.04709	0.460000	0.39030	ATT		0.468	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		C	247835950	T	C	247835950	3	2	16	1	0	0	0	0	1	0	0	0	10942	1406	49	4	533	4	OR13G1	1	247835950	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	43420766	247835950	1414671	7	1164											
GREB1	9687	ucsc.edu	37	chr2	11775503	11775503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagcagatcgtggtgggcgGccacaggtccttccacatca	9	7	13	12	2	1	1	1	0	0	1	4	2	3	1	3	4	1	1	3	4	1	1			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:11775503G>T	ENST00000381486.2	+	30	5618	c.5318G>T	c.(5317-5319)gGc>gTc	p.G1773V	GREB1_ENST00000396123.1_Missense_Mutation_p.G771V|GREB1_ENST00000234142.5_Missense_Mutation_p.G1773V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1773						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)		GTGGTGGGCGGCCACAGGTCC	0.627																																					Ovarian(39;850 945 2785 23371 33093)	.											0													57	63	61					2																	11775503		2071	4202	6273	SO:0001583	missense	9687				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.5318G>T	2.37:g.11775503G>T	ENSP00000370896:p.Gly1773Val		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717454	0.89205	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.28255	2.94;2.94;1.62	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.74647	2.275	0.80722	D	1	D	0.63880	0.993	D	0.64595	0.927	T	0.62469	-0.6848	10	0.87932	D	0	-30.8708	17.7214	0.88352	0.0:0.0:1.0:0.0	.	1773	Q4ZG55	GREB1_HUMAN	V	1773;1773;771	ENSP00000370896:G1773V;ENSP00000234142:G1773V;ENSP00000379429:G771V	ENSP00000234142:G1773V	G	+	2	0	GREB1	11692954	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.147000	0.94646	2.194000	0.70268	0.655000	0.94253	GGC		0.627	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11775503	G	T	11775503	3	4	16	1	0	0	0	0	1	0	0	0	6760	1203	42	5	5540	5	GREB1	2	11775503	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10		11775503	231423870	8	1165											
OTOF	9381	bcgsc.ca	37	chr2	26698856	26698856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgctgctgtcggcggcaaAgaggctgcgggcctggtaca	6	7	16	12	4	0	1	0	0	0	1	2	1	1	1	2	5	3	5	2	5	2	1	rs397515596		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:26698856A>G	ENST00000272371.2	-	24	3043	c.2917T>C	c.(2917-2919)Ttt>Ctt	p.F973L	OTOF_ENST00000339598.3_Missense_Mutation_p.F226L|OTOF_ENST00000338581.6_Missense_Mutation_p.F226L|OTOF_ENST00000403946.3_Missense_Mutation_p.F973L|OTOF_ENST00000402415.3_Missense_Mutation_p.F283L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	973	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)					TCGGCGGCAAAGAGGCTGCGG	0.652																																					GBM(102;732 1451 20652 24062 31372)	.											0													43	38	39					2																	26698856		2200	4295	6495	SO:0001583	missense	9381			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.2917T>C	2.37:g.26698856A>G	ENSP00000272371:p.Phe973Leu		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325696	0.60743	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.41	5.41	0.78517	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	0.36690	0.0976	N	0.00303	-1.675	0.80722	D	1	P;B;P;B	0.48764	0.711;0.024;0.915;0.007	B;B;P;B	0.48952	0.356;0.018;0.596;0.018	T	0.56535	-0.7963	10	0.05620	T	0.96	-4.735	15.0966	0.72238	1.0:0.0:0.0:0.0	.	973;226;283;226	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	L	226;226;283;973;973	ENSP00000345137:F226L;ENSP00000344521:F226L;ENSP00000383906:F283L;ENSP00000272371:F973L;ENSP00000385255:F973L	ENSP00000272371:F973L	F	-	1	0	OTOF	26552360	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	6.119000	0.71590	2.059000	0.61396	0.459000	0.35465	TTT		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			G	26698856	A	G	26698856	3	3	16	1	0	0	0	0	1	0	0	0	11303	72	3	2	3353	2	OTOF	2	26698856	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10	14923353	26698856	216500517	9	1166											
RNF103	7844	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	86831681	86831681	+	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	accattctaagttattggcaTtgacttcatcattgttgttg	9	18	7	7	0	3	1	2	1	1	0	3	1	3	1	1	1	0	4	1	1	2	9			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:86831681T>A	ENST00000237455.4	-	4	2311	c.1343A>T	c.(1342-1344)aAt>aTt	p.N448I	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	448					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)	p.N448I(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTTATTGGCATTGACTTCATC	0.418																																						.											1	Substitution - Missense(1)	kidney(1)											125	124	125					2																	86831681		2203	4300	6503	SO:0001583	missense	7844			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.1343A>T	2.37:g.86831681T>A	ENSP00000237455:p.Asn448Ile		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722675	0.48728	.	.	ENSG00000239305	ENST00000237455	T	0.46451	0.87	5.59	5.59	0.84812	.	0.044753	0.85682	D	0.000000	T	0.61476	0.2350	L	0.60455	1.87	0.54753	D	0.999988	D	0.76494	0.999	D	0.80764	0.994	T	0.64002	-0.6509	10	0.66056	D	0.02	-16.2147	15.7662	0.78128	0.0:0.0:0.0:1.0	.	448	O00237	RN103_HUMAN	I	448	ENSP00000237455:N448I	ENSP00000237455:N448I	N	-	2	0	RNF103	86685192	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	3.609000	0.54117	2.133000	0.65898	0.377000	0.23210	AAT		0.418	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		A	86831681	T	A	86831681	3	1	16	1	0	0	0	0	1	0	0	0	13423	1493	52	5	718	5	RNF103	2	86831681	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	60132825	86831681	156367692	10	1167											
PIKFYVE	200576	ucsc.edu;bcgsc.ca	37	chr2	209198216	209198216	+	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	accagatggtggcgtctttcAggtaagaaatcctaggaatc	12	10	11	8	1	2	2	1	0	1	2	4	3	3	3	2	4	0	1	2	4	4	3			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:209198216A>G	ENST00000264380.4	+	24	4299	c.4141A>G	c.(4141-4143)Agt>Ggt	p.S1381G		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1381					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGCGTCTTTCAGGTAAGAAAT	0.403																																						.											0													69	65	66					2																	209198216		2203	4300	6503	SO:0001630	splice_region_variant	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4142+1A>G	2.37:g.209198216A>G			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398979	0.83120	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.29655	1.56;1.73	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.50333	1.59	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.67548	0.952;0.914	T	0.29640	-1.0005	10	0.28530	T	0.3	-13.6451	15.2597	0.73613	1.0:0.0:0.0:0.0	.	1381;1325	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	G	1381;957;1325	ENSP00000264380:S1381G;ENSP00000405736:S1325G	ENSP00000264380:S1381G	S	+	1	0	PIKFYVE	208906461	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.962000	0.93254	2.018000	0.59344	0.454000	0.30748	AGT		0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	Missense_Mutation	G	209198216	A	G	209198216	5	3	16	1	0	0	0	0	0	0	1	0	11924	202	7	2	4242	2	PIKFYVE	2	209198216	Splice_Site	SNP	A	TCGA-KL-8338-01A-11D-2310-10	122366535	209198216	34001157	11	1168											
PECR	55825	bcgsc.ca	37	chr2	216923679	216923679	+	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	gacgatagatcctccatgctCtttcatccaggagctgtaaa	11	11	8	11	1	2	1	1	0	1	1	5	4	5	2	3	1	2	3	3	1	3	3	rs1429148	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr2:216923679C>T	ENST00000265322.7	-	4	519	c.445G>A	c.(445-447)Gag>Aag	p.E149K	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	149			E -> K (in dbSNP:rs1429148).		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)	CCTCCATGCTCTTTCATCCAG	0.393													C|||	877	0.17512	0.2451	0.1167	5008	,	,		19157	0.1935		0.0497	False		,,,				2504	0.2321					.											0								C	LYS/GLU	941,3465	358.6+/-314.5	97,747,1359	111	107	108		445	-1	0.2	2	dbSNP_88	108	508,8092	145.1+/-200.9	12,484,3804	yes	missense	PECR	NM_018441.5	56	109,1231,5163	TT,TC,CC		5.907,21.3572,11.141	benign	149/304	216923679	1449,11557	2203	4300	6503	SO:0001583	missense	55825			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.445G>A	2.37:g.216923679C>T	ENSP00000265322:p.Glu149Lys		B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	CCDS33375.1	334	0.15293040293040294	118	0.23983739837398374	37	0.10220994475138122	141	0.2465034965034965	38	0.05013192612137203	C	8.624	0.892018	0.17613	0.213572	0.05907	ENSG00000115425	ENST00000265322	T	0.42513	0.97	5.77	-1.01	0.10169	Apoptosis regulator, Bcl-2, BH (1);NAD(P)-binding domain (1);	0.630718	0.17997	N	0.155025	T	0.00012	0.0000	N	0.02775	-0.495	0.28925	P	0.891905	B;B	0.15930	0.005;0.015	B;B	0.25614	0.027;0.062	T	0.34650	-0.9820	9	0.10377	T	0.69	.	6.3072	0.21145	0.0:0.4753:0.1195:0.4052	rs1429148;rs3732029;rs59553324;rs1429148	149;3	Q9BY49;Q9BY49-2	PECR_HUMAN;.	K	149	ENSP00000265322:E149K	ENSP00000265322:E149K	E	-	1	0	PECR	216631924	0.024000	0.19004	0.180000	0.23079	0.930000	0.56654	-0.209000	0.09358	-0.531000	0.06340	-1.106000	0.02097	GAG		0.393	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		T	216923679	C	T	216923679	3	4	16	1	0	0	0	0	1	0	0	0	11717	922	32	4	486	4	PECR	2	216923679	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	7725463	216923679	26275694	12	1169											
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-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:65425594C>T	ENST00000497477.2	-	9	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q410Q|MAGI1_ENST00000402939.2_Silent_p.Q410Q|MAGI1_ENST00000330909.8_Silent_p.Q410Q			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					.											0													65	61	62					3																	65425594		2199	4283	6482	SO:0001819	synonymous_variant	9223			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		1084	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	16	1	0	0	0	0	0	0	0	1	9190	796	28	4		4	MAGI1	3	65425594	Silent	SNP	C	TCGA-KL-8338-01A-11D-2310-10		65425594	132596836	13	1170											
RABL3	285282	broad.mit.edu	37	chr3	120417415	120417415	+	Missense_Mutation	SNP	T	T	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	cagcaaactgttcttgatcaTaatccctgtgataaataata	15	13	5	8	0	2	2	1	2	1	0	3	2	3	2	1	0	2	2	1	0	6	6			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:120417415T>C	ENST00000273375.3	-	5	418	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.Y130C	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	130	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTCTTGATCATAATCCCTGTG	0.338																																						.											0													190	207	202					3																	120417415		2203	4296	6499	SO:0001583	missense	285282			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.389A>G	3.37:g.120417415T>C	ENSP00000273375:p.Tyr130Cys		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112522	0.77210	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.71103	-0.54;-0.51	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.81592	0.4855	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82598	-0.0378	10	0.56958	D	0.05	-12.3624	15.1734	0.72894	0.0:0.0:0.0:1.0	.	130	Q5HYI8	RABL3_HUMAN	C	130	ENSP00000273375:Y130C;ENSP00000419986:Y130C	ENSP00000273375:Y130C	Y	-	2	0	RABL3	121900105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.572000	0.82409	2.176000	0.68965	0.455000	0.32223	TAT		0.338	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		C	120417415	T	C	120417415	3	2	16	1	0	0	0	0	1	0	0	0	12972	1406	49	4	337	4	RABL3	3	120417415	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	54991821	120417415	77605015	14	1171											
DHX36	170506	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	154033067	154033067	+	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	tagtagaaacttcagtaccgTatctgttttgacaaaataag	15	13	7	6	1	2	2	1	1	1	1	2	2	2	2	1	0	2	4	1	0	8	8	rs138481688		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:154033067T>A	ENST00000496811.1	-	3	451	c.371A>T	c.(370-372)tAc>tTc	p.Y124F	DHX36_ENST00000329463.5_Missense_Mutation_p.Y124F|DHX36_ENST00000544526.1_Missense_Mutation_p.Y124F|DHX36_ENST00000308361.6_Missense_Mutation_p.Y124F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	124					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCAGTACCGTATCTGTTTTG	0.333																																						.											0													68	67	67					3																	154033067		2203	4297	6500	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.371A>T	3.37:g.154033067T>A	ENSP00000417078:p.Tyr124Phe		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884336	0.33255	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.52	5.52	0.82312	.	0.389150	0.28476	N	0.015219	T	0.07413	0.0187	N	0.24115	0.695	0.35513	D	0.800764	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.003;0.001	T	0.24621	-1.0155	10	0.10902	T	0.67	.	12.0359	0.53425	0.0:0.0:0.0:1.0	.	124;124;124	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	124;124;124;124;38	ENSP00000417078:Y124F;ENSP00000309296:Y124F;ENSP00000444247:Y124F;ENSP00000330113:Y124F;ENSP00000419862:Y38F	ENSP00000309296:Y124F	Y	-	2	0	DHX36	155515761	0.623000	0.27094	1.000000	0.80357	0.454000	0.32378	1.778000	0.38614	2.100000	0.63781	0.467000	0.42956	TAC		0.333	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		A	154033067	T	A	154033067	3	1	16	1	0	0	0	0	1	0	0	0	4509	1638	57	5	2747	5	DHX36	3	154033067	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	33615652	154033067	43989363	15	1172											
NDUFB5	4711	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	179336311	179336311	+	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	ctgaaaaggctgaattacggTaggaaaaacgagggggtagg	15	6	16	4	2	0	2	0	2	0	0	0	4	0	3	0	6	2	3	0	6	8	3			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:179336311T>C	ENST00000259037.3	+	5	563		c.e5+2		NDUFB5_ENST00000472629.1_Splice_Site|NDUFB5_ENST00000493866.1_Splice_Site|NDUFB5_ENST00000473500.1_Splice_Site	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa						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)			TGAATTACGGTAGGAAAAACG	0.373																																						.											0													52	53	52					3																	179336311		2203	4300	6503	SO:0001630	splice_region_variant	4711			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.449+2T>C	3.37:g.179336311T>C			Q561V6	Splice_Site	SNP	ENST00000259037.3	37	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.418381	0.62622	.	.	ENSG00000136521	ENST00000259037;ENST00000493866;ENST00000472629;ENST00000482604	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4432	0.75204	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFB5	180819005	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	5.492000	0.66893	2.284000	0.76573	0.523000	0.50628	.		0.373	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492	Intron	C	179336311	T	C	179336311	5	2	16	1	0	0	0	0	0	0	1	0	10284	1652	57	2	469	2	NDUFB5	3	179336311	Splice_Site	SNP	T	TCGA-KL-8338-01A-11D-2310-10	25303244	179336311	18686119	16	1173											
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	73959889	73959889	+	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	gaatagcattgatattacagCctcctcttccaatcactctg	11	13	5	12	0	3	1	1	1	2	0	5	2	5	1	3	0	3	1	3	0	5	5			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr4:73959889C>A	ENST00000358602.4	-	28	5350	c.5234G>T	c.(5233-5235)gGc>gTc	p.G1745V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G1632V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G1494V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1745	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)			GATATTACAGCCTCCTCTTCC	0.348																																						.											0													162	151	155					4																	73959889		2203	4300	6503	SO:0001583	missense	26057			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.5234G>T	4.37:g.73959889C>A	ENSP00000351416:p.Gly1745Val		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775657	0.90195	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	D;D;D	0.94184	-3.37;-3.37;-3.37	5.52	5.52	0.82312	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000006	D	0.98375	0.9460	H	0.99058	4.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.99616	1.0982	10	0.87932	D	0	.	19.4499	0.94862	0.0:1.0:0.0:0.0	.	1744;1494;1745;1632	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	1745;1152;1494;1632;129	ENSP00000351416:G1745V;ENSP00000332265:G1494V;ENSP00000427151:G1632V	ENSP00000332265:G1494V	G	-	2	0	ANKRD17	74178753	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.416000	0.80143	2.582000	0.87167	0.585000	0.79938	GGC		0.348	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		A	73959889	C	A	73959889	3	1	16	1	0	0	0	0	1	0	0	0	646	739	26	5	2605	5	ANKRD17	4	73959889	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		73959889	117194387	17	1174											
CXCL5	6374	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	74863781	74863781	+	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	aaaaggggcttctggatcaaGacaaatttccttcccgttct	11	12	8	10	1	3	1	1	0	2	1	5	2	5	2	2	3	0	2	2	3	4	4			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr4:74863781G>T	ENST00000296027.4	-	3	471	c.274C>A	c.(274-276)Ctt>Att	p.L92I		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	92					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TCTGGATCAAGACAAATTTCC	0.428																																						.											0													85	93	91					4																	74863781		2203	4300	6503	SO:0001583	missense	6374			X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"Endogenous ligands"	10642	protein-coding gene	gene with protein product		600324	"small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.274C>A	4.37:g.74863781G>T	ENSP00000296027:p.Leu92Ile		Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	37	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887192	0.33348	.	.	ENSG00000163735	ENST00000296027	T	0.06068	3.35	3.78	2.9	0.33743	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.085998	0.48767	N	0.000175	T	0.26557	0.0649	M	0.90145	3.09	0.29520	N	0.853537	D	0.89917	1.0	D	0.87578	0.998	T	0.10154	-1.0642	10	0.62326	D	0.03	.	8.2023	0.31432	0.0:0.0:0.7615:0.2385	.	92	P42830	CXCL5_HUMAN	I	92	ENSP00000296027:L92I	ENSP00000296027:L92I	L	-	1	0	CXCL5	75082645	0.992000	0.36948	0.539000	0.28077	0.233000	0.25261	2.704000	0.47118	0.759000	0.33084	0.306000	0.20318	CTT		0.428	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		T	74863781	G	T	74863781	3	4	16	1	0	0	0	0	1	0	0	0	4087	942	33	5	78	5	CXCL5	4	74863781	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	903892	74863781	116290495	18	1175											
MIER3	166968	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	56229122	56229122	+	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	gcagaaatcctatccattatTttttcactgccagtccttaa	11	15	4	11	0	1	1	1	0	0	1	4	1	4	1	4	0	1	1	4	0	4	6			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr5:56229122T>G	ENST00000381199.3	-	8	709	c.699A>C	c.(697-699)aaA>aaC	p.K233N	MIER3_ENST00000409421.1_Missense_Mutation_p.K170N|MIER3_ENST00000381213.3_Missense_Mutation_p.K233N|MIER3_ENST00000381226.3_Missense_Mutation_p.K238N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	233	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				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)		TATCCATTATTTTTTCACTGC	0.398																																						.											0													237	228	231					5																	56229122		2203	4300	6503	SO:0001583	missense	166968			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.699A>C	5.37:g.56229122T>G	ENSP00000370596:p.Lys233Asn		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	T	15.30	2.791476	0.50102	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.5	0.519	0.17035	ELM2 domain (1);	0.046629	0.85682	D	0.000000	T	0.51550	0.1681	L	0.41710	1.295	0.38505	D	0.948324	D;D;P	0.76494	0.994;0.999;0.928	P;D;P	0.69479	0.81;0.964;0.775	T	0.47222	-0.9134	10	0.35671	T	0.21	-4.2485	9.0203	0.36195	0.0:0.2834:0.0:0.7166	.	233;238;233	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	N	238;233;233;170	ENSP00000370624:K238N;ENSP00000370611:K233N;ENSP00000370596:K233N;ENSP00000386584:K170N	ENSP00000370596:K233N	K	-	3	2	MIER3	56264879	0.096000	0.21769	0.251000	0.24312	0.991000	0.79684	0.502000	0.22594	0.078000	0.16900	-0.256000	0.11100	AAA		0.398	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		G	56229122	T	G	56229122	3	3	16	1	0	0	0	0	1	0	0	0	9582	1838	64	5	974	5	MIER3	5	56229122	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10		56229122	124686138	19	1176											
VCAN	1462	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	82841438	82841438	+	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	tcctacgtatgcacctgtgtGccaggatacagcggagacca	10	8	11	12	2	0	1	0	0	0	1	1	3	1	2	4	2	5	2	4	2	3	3			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr5:82841438G>T	ENST00000265077.3	+	9	9913	c.9348G>T	c.(9346-9348)gtG>gtT	p.V3116V	VCAN_ENST00000343200.5_Silent_p.V2129V|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Silent_p.V1314V|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.V375V|VCAN_ENST00000342785.4_Silent_p.V1362V|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3116	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	GCACCTGTGTGCCAGGATACA	0.463																																						.											0													185	175	178					5																	82841438		2203	4300	6503	SO:0001819	synonymous_variant	1462			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.9348G>T	5.37:g.82841438G>T			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82841438	G	T	82841438	2	4	16	1	0	0	0	0	0	0	0	1	17135	1306	46	5		5	VCAN	5	82841438	Silent	SNP	G	TCGA-KL-8338-01A-11D-2310-10	26612316	82841438	98073822	20	1177											
OR2B2	81697	hgsc.bcm.edu	37	chr6	27879249	27879249	+	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	tatataaggggattcagcatGggtgcaatgattccacagaa	14	10	11	6	0	1	2	1	1	0	1	2	3	2	3	1	3	2	2	1	3	5	5	rs375078072		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr6:27879249G>A	ENST00000303324.2	-	1	925	c.849C>T	c.(847-849)ccC>ccT	p.P283P		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GATTCAGCATGGGTGCAATGA	0.403																																						.											0								G		0,4406		0,0,2203	76	75	75		849	3.4	1	6		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2B2	NM_033057.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		283/358	27879249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.849C>T	6.37:g.27879249G>A			B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	CCDS4641.1																																																																																				0.403	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			A	27879249	G	A	27879249	2	1	16	1	0	0	0	0	0	0	0	1	10989	1335	47	4		4	OR2B2	6	27879249	Silent	SNP	G	TCGA-KL-8338-01A-11D-2310-10		27879249	143235818	21	1178											
HLA-B	3106	mdanderson.org	37	chr6	31324046	31324046	+	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	ctgctccgcctcacgggccgCctcccacttgcgctgggtga	3	8	12	18	4	1	1	1	1	0	0	3	1	3	1	5	2	2	2	5	2	0	1			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr6:31324046C>T	ENST00000412585.2	-	3	545	c.517G>A	c.(517-519)Gcg>Acg	p.A173T		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	173	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCACGGGCCGCCTCCCACTTG	0.677									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0													29	20	23					6																	31324046		2157	4214	6371	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.517G>A	6.37:g.31324046C>T	ENSP00000399168:p.Ala173Thr		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	12.69	2.013055	0.35511	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.00010	9.41;9.41	3.18	1.27	0.21489	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.413983	0.16697	U	0.203317	T	0.00144	0.0004	M	0.87758	2.905	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.994;0.998	T	0.15983	-1.0418	10	0.56958	D	0.05	.	5.8476	0.18675	0.0:0.6711:0.2073:0.1215	.	173;173	P30480;P01889	1B42_HUMAN;1B07_HUMAN	T	173;52;52;184	ENSP00000399168:A173T;ENSP00000405931:A184T	ENSP00000399168:A173T	A	-	1	0	HLA-B	31432025	0.000000	0.05858	0.017000	0.16124	0.005000	0.04900	-0.597000	0.05713	0.174000	0.19809	0.297000	0.19635	GCG		0.677	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31324046	C	T	31324046	3	4	16	1	0	0	0	0	1	0	0	0	7196	739	26	3	591	3	HLA-B	6	31324046	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	3444797	31324046	139791021	22	1179											
HLA-DRB5	3127	mdanderson.org	37	chr6	32497975	32497975	+	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	gtcagctttgccatgtaggaAcctccagggagcttcagaca	10	9	11	11	0	2	1	2	0	0	1	3	3	3	3	3	2	4	3	3	2	2	3	rs114195860	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr6:32497975A>G	ENST00000374975.3	-	1	89	c.27T>C	c.(25-27)ggT>ggC	p.G9G		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCATGTAGGAACCTCCAGGGA	0.582																																						.											0													58	65	63					6																	32497975		2198	4282	6480	SO:0001819	synonymous_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.27T>C	6.37:g.32497975A>G				Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.582	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32497975	A	G	32497975	2	3	16	1	0	0	0	0	0	0	0	1	7209	30	2	2		2	HLA-DRB5	6	32497975	Silent	SNP	A	TCGA-KL-8338-01A-11D-2310-10	1173929	32497975	138617092	23	1180											
CNPY3	10695	bcgsc.ca	37	chr6	42906384	42906384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtccaagaagaagagcaGcagggccaaggcagcaggcg	15	1	16	9	1	0	3	0	0	0	3	1	4	1	3	2	3	3	4	2	3	5	0	rs9471969	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr6:42906384G>T	ENST00000372836.4	+	6	1063	c.692G>T	c.(691-693)aGc>aTc	p.S231I	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	231	Saposin B-type.		S -> I (in dbSNP:rs9471969).		innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AAGAAGAGCAGCAGGGCCAAG	0.622													G|||	1071	0.213858	0.3328	0.2075	5008	,	,		19202	0.0149		0.2744	False		,,,				2504	0.2004					.											0								G	ILE/SER	1419,2987	449.8+/-349.2	230,959,1014	79	80	80		692	5	0.6	6	dbSNP_119	80	2199,6399	362.9+/-332.9	263,1673,2363	yes	missense	CNPY3	NM_006586.3	142	493,2632,3377	TT,TG,GG		25.5757,32.2061,27.8222	benign	231/279	42906384	3618,9386	2203	4299	6502	SO:0001583	missense	10695			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"Trinucleotide (CAG) repeat containing"	11968	protein-coding gene	gene with protein product		610774	"trinucleotide repeat containing 5", "canopy 3 homolog (zebrafish)"	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.692G>T	6.37:g.42906384G>T	ENSP00000361926:p.Ser231Ile		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	ENST00000372836.4	37	CCDS4875.1	463	0.211996336996337	158	0.32113821138211385	81	0.22375690607734808	13	0.022727272727272728	211	0.2783641160949868	G	16.53	3.149626	0.57151	0.322061	0.255757	ENSG00000137161	ENST00000372836	T	0.24723	1.84	5.02	5.02	0.67125	.	0.433550	0.25747	N	0.028570	T	0.06690	0.0171	N	0.08118	0	0.09310	P	1.0	B	0.32693	0.38	B	0.28011	0.085	T	0.15607	-1.0431	9	0.39692	T	0.17	-13.8584	15.6126	0.76737	0.0:0.0:1.0:0.0	rs9471969;rs52835372;rs58234738;rs9471969	231	Q9BT09	CNPY3_HUMAN	I	231	ENSP00000361926:S231I	ENSP00000361926:S231I	S	+	2	0	CNPY3	43014362	1.000000	0.71417	0.631000	0.29282	0.974000	0.67602	4.641000	0.61375	2.504000	0.84457	0.462000	0.41574	AGC		0.622	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		T	42906384	G	T	42906384	3	4	16	1	0	0	0	0	1	0	0	0	3629	971	34	5	714	5	CNPY3	6	42906384	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	10408409	42906384	128208683	24	1181											
GPR146	115330	ucsc.edu	37	chr7	1097895	1097895	+	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	cagtttgggctctggacgccAcactatctgatcctgctggg	6	11	12	12	1	2	1	0	1	2	0	3	2	3	2	2	3	1	3	2	3	1	2	rs61910751	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr7:1097895A>G	ENST00000397095.1	+	2	967	c.744A>G	c.(742-744)ccA>ccG	p.P248P	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397100.2_Intron|GPR146_ENST00000297468.3_Silent_p.P248P|C7orf50_ENST00000357429.6_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	248						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)		TCTGGACGCCACACTATCTGA	0.647													G|||	345	0.0688898	0.0204	0.0821	5008	,	,		17834	0		0.1262	False		,,,				2504	0.137					.											0									,,,	206,4198	800.2+/-415.6	2,202,1998	59	48	52		,,,744	-10.2	0	7	dbSNP_129	52	1354,7244	751.8+/-407.4	106,1142,3051	no	intron,intron,intron,coding-synonymous	C7orf50,GPR146	NM_001134395.1,NM_001134396.1,NM_032350.5,NM_138445.2	,,,	108,1344,5049	GG,GA,AA		15.7478,4.6776,11.9982	,,,	,,,248/334	1097895	1560,11442	2202	4299	6501	SO:0001819	synonymous_variant	115330			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.744A>G	7.37:g.1097895A>G			Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																				0.647	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		G	1097895	A	G	1097895	2	3	16	1	0	0	0	0	0	0	0	1	6652	146	6	2		2	GPR146	7	1097895	Silent	SNP	A	TCGA-KL-8338-01A-11D-2310-10		1097895	158040768	25	1182											
SEMA3C	10512	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	80458056	80458056	+	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	ttcagaggtcttggtttctcGaagttctgaaagagtgaaca	11	13	11	6	1	4	4	1	2	3	2	5	5	4	4	0	2	1	2	0	2	3	4			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr7:80458056G>A	ENST00000265361.3	-	3	670	c.109C>T	c.(109-111)Cga>Tga	p.R37*	SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Nonsense_Mutation_p.R55*|SEMA3C_ENST00000419255.2_Nonsense_Mutation_p.R37*	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	37	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R37*(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTGGTTTCTCGAAGTTCTGAA	0.348																																						.											1	Substitution - Nonsense(1)	skin(1)											93	91	92					7																	80458056		2203	4300	6503	SO:0001587	stop_gained	10512			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.109C>T	7.37:g.80458056G>A	ENSP00000265361:p.Arg37*		B4DRL8	Nonsense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	40	8.392540	0.98791	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	.	.	.	5.77	4.89	0.63831	.	0.171329	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	14.7854	0.69800	0.069:0.0:0.931:0.0	.	.	.	.	X	37;37;55	.	ENSP00000265361:R37X	R	-	1	2	SEMA3C	80295992	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.197000	0.58413	1.447000	0.47661	-0.142000	0.14014	CGA		0.348	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		A	80458056	G	A	80458056	4	1	16	1	0	0	0	0	0	1	0	0	14026	1066	37	1	2210	1	SEMA3C	7	80458056	Nonsense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	79360161	80458056	78680607	26	1183											
ZNF789	285989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	99084964	99084964	+	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	tgtggagaatgtgggaaaacGtttagttttaagaggaatct	13	13	13	2	1	1	2	0	0	1	2	1	5	1	4	0	3	1	2	0	3	6	4	rs148718204	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr7:99084964G>A	ENST00000331410.5	+	5	1401	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	377					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)					GTGGGAAAACGTTTAGTTTTA	0.403																																						.											0								G		7,4399	12.9+/-30.5	0,7,2196	138	136	137		1131	-5.8	0.2	7	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous	ZNF789	NM_213603.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		377/426	99084964	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	285989			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.1131G>A	7.37:g.99084964G>A			A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	CCDS34693.1																																																																																				0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		A	99084964	G	A	99084964	2	1	16	1	0	0	0	0	0	0	0	1	18157	1132	40	1		1	ZNF789	7	99084964	Silent	SNP	G	TCGA-KL-8338-01A-11D-2310-10	18626908	99084964	60053699	27	1184											
CSMD3	114788	bcgsc.ca	37	chr8	113516067	113516067	+	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	actaacagatccatcactccGaaaagccaaatgcattgtat	16	9	5	11	1	1	1	1	0	0	1	3	2	3	1	3	0	3	2	3	0	5	3	rs368685063		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr8:113516067G>A	ENST00000297405.5	-	30	5279	c.5035C>T	c.(5035-5037)Cgg>Tgg	p.R1679W	CSMD3_ENST00000455883.2_Missense_Mutation_p.R1575W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1639W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1679W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1679	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATCACTCCGAAAAGCCAAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												.											0								G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	160	144	149		4723,5035,4915	5.1	1	8		149	0,8600		0,0,4300	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1575/3539,1679/3708,1639/3668	113516067	1,13005	2203	4300	6503	SO:0001583	missense	114788			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.5035C>T	8.37:g.113516067G>A	ENSP00000297405:p.Arg1679Trp		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687673	0.88639	2.27E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.08	5.08	0.68730	CUB (5);	0.000000	0.64402	D	0.000002	T	0.54854	0.1884	M	0.89095	3.005	0.50813	D	0.999892	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.994;0.998	T	0.61530	-0.7044	10	0.52906	T	0.07	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	1575;1679;1639	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	1639;1679;1019;1575;1679	ENSP00000345799:R1639W;ENSP00000297405:R1679W;ENSP00000341558:R1019W;ENSP00000412263:R1575W;ENSP00000343124:R1679W	ENSP00000297405:R1679W	R	-	1	2	CSMD3	113585243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.538000	0.98072	2.629000	0.89072	0.650000	0.86243	CGG		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113516067	G	A	113516067	3	1	16	1	0	0	0	0	1	0	0	0	3946	1057	37	1	6256	1	CSMD3	8	113516067	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10		113516067	32847955	28	1185											
OLFML2A	169611	broad.mit.edu	37	chr9	127572090	127572090	+	Missense_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	atcgccctcgcctgcaggccGctggagtaacatgtacaagc	9	7	11	14	3	0	0	0	0	0	0	2	1	0	1	3	2	4	4	3	2	3	2	rs201784600		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr9:127572090G>A	ENST00000373580.3	+	8	1358	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R239H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	453	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCTGCAGGCCGCTGGAGTAAC	0.617													G|||	1	0.000199681	0	0	5008	,	,		17402	0		0.001	False		,,,				2504	0					.											0								G	HIS/ARG	0,4406		0,0,2203	93	85	88		1358	6.2	1	9		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	OLFML2A	NM_182487.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	453/653	127572090	1,13005	2203	4300	6503	SO:0001583	missense	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1358G>A	9.37:g.127572090G>A	ENSP00000362682:p.Arg453His		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	CCDS6857.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.504096	0.96371	0.0	1.16E-4	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.89617	-2.54;-2.54	6.17	6.17	0.99709	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95548	0.8553	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.975;0.999	D	0.95312	0.8413	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	239;453	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	H	145;453;239	ENSP00000362682:R453H;ENSP00000288815:R239H	ENSP00000288815:R239H	R	+	2	0	OLFML2A	126611911	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC		0.617	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		A	127572090	G	A	127572090	3	1	16	1	0	0	0	0	1	0	0	0	10857	1087	38	1	1388	1	OLFML2A	9	127572090	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10		127572090	13641341	29	1186											
GPSM1	26086	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	139231484	139231484	+	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	gcaggaccccgggcacctgcCgcccgatgtccgagagaccc	7	3	13	18	4	0	1	0	0	0	1	1	5	1	2	7	2	1	2	7	2	0	0			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr9:139231484C>T	ENST00000440944.1	+	4	753	c.533C>T	c.(532-534)cCg>cTg	p.P178L	GPSM1_ENST00000392945.3_Missense_Mutation_p.P178L	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	178	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGCACCTGCCGCCCGATGTC	0.662																																						.											0													39	36	37					9																	139231484		2115	4176	6291	SO:0001583	missense	26086			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.533C>T	9.37:g.139231484C>T	ENSP00000392828:p.Pro178Leu		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473531	0.63737	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	D;D;D	0.90444	-2.65;-2.65;-2.67	3.79	3.79	0.43588	Tetratricopeptide-like helical (1);	0.068976	0.64402	U	0.000013	D	0.93910	0.8051	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.61328	0.887;0.85	D	0.94277	0.7516	10	0.52906	T	0.07	-12.041	15.5081	0.75757	0.0:1.0:0.0:0.0	.	178;178	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	L	178;178;155	ENSP00000376674:P178L;ENSP00000392828:P178L;ENSP00000346797:P155L	ENSP00000346797:P155L	P	+	2	0	GPSM1	138351305	0.998000	0.40836	0.940000	0.37924	0.889000	0.51656	3.792000	0.55476	2.050000	0.60909	0.563000	0.77884	CCG		0.662	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		T	139231484	C	T	139231484	3	4	16	1	0	0	0	0	1	0	0	0	6734	652	23	1	547	1	GPSM1	9	139231484	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	11659394	139231484	1981947	30	1187											
TAF1D	79101	broad.mit.edu	37	chr11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-																															gctggtacctcctctttttcTtttttttatatctctttttc																										TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)aagfs	p.K96fs	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	96					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						CCTCTTTTTCTTTTTTTTATA	0.348																																						.											0													109	116	114					11																	93471453		2201	4298	6499	SO:0001589	frameshift_variant	79101				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.281delA	11.37:g.93471453delT	ENSP00000410409:p.Lys96fs		Q6I9Y6	Frame_Shift_Del	DEL	ENST00000448108.2	37	CCDS8293.1																																																																																				0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		-	93471453	T	-	93471453	7	5	16	1	0	1	0	1	0	0	0	0	15519	1609	56	0	571	0	TAF1D	11	93471453	Frame_Shift_Del	DEL	T	TCGA-KL-8338-01A-11D-2310-10		93471453	41535063	31	1188											
PEBP1	5037	ucsc.edu	37	chr12	118574067	118574067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcctgcaagaagtggAcgagcagccgcagcacccgc	10	4	13	14	3	0	2	0	1	0	1	0	4	0	3	3	1	5	4	3	1	2	1			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr12:118574067A>G	ENST00000261313.2	+	1	405	c.53A>G	c.(52-54)gAc>gGc	p.D18G		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	18						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)					CAAGAAGTGGACGAGCAGCCG	0.711																																					NSCLC(44;94 1357 12187 49467)	.											0													12	13	13					12																	118574067		1894	3543	5437	SO:0001583	missense	5037			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.53A>G	12.37:g.118574067A>G	ENSP00000261313:p.Asp18Gly		B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	A	30	5.049727	0.93740	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.33865	1.39	4.75	4.75	0.60458	.	0.301525	0.39615	N	0.001304	T	0.59101	0.2169	M	0.85373	2.75	0.42300	D	0.992176	D;P	0.67145	0.996;0.931	P;P	0.58820	0.846;0.585	T	0.66763	-0.5841	10	0.52906	T	0.07	.	14.4148	0.67142	1.0:0.0:0.0:0.0	.	18;18	B4DRT4;P30086	.;PEBP1_HUMAN	G	18	ENSP00000261313:D18G	ENSP00000261313:D18G	D	+	2	0	PEBP1	117058450	1.000000	0.71417	0.953000	0.39169	0.740000	0.42216	8.273000	0.89887	2.009000	0.58944	0.402000	0.26972	GAC		0.711	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		G	118574067	A	G	118574067	3	3	16	1	0	0	0	0	1	0	0	0	11713	275	10	2	55	2	PEBP1	12	118574067	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10		118574067	15277828	32	1189											
CASC5	57082	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	40944268	40944268	+	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	attcacctttgtttatgacaCgatacaactcaccatcacct	12	13	3	13	1	3	1	3	1	0	0	3	2	3	1	3	0	2	1	3	0	3	5			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr15:40944268C>T	ENST00000346991.5	+	22	6848	c.6458C>T	c.(6457-6459)aCg>aTg	p.T2153M	CASC5_ENST00000399668.2_Missense_Mutation_p.T2127M			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2153	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)		GTTTATGACACGATACAACTC	0.378																																						.											0													114	102	106					15																	40944268		1897	4129	6026	SO:0001583	missense	57082			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.6458C>T	15.37:g.40944268C>T	ENSP00000335463:p.Thr2153Met		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863076	0.51482	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.06933	3.24;3.24	5.4	5.4	0.78164	.	0.206901	0.41500	D	0.000876	T	0.19208	0.0461	L	0.36672	1.1	0.30216	N	0.797228	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.882	T	0.00630	-1.1636	10	0.87932	D	0	.	16.0887	0.81076	0.0:1.0:0.0:0.0	.	2127;2153	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	M	2153;2127	ENSP00000335463:T2153M;ENSP00000382576:T2127M	ENSP00000335463:T2153M	T	+	2	0	CASC5	38731560	0.996000	0.38824	0.728000	0.30774	0.203000	0.24098	4.362000	0.59467	2.523000	0.85059	0.655000	0.94253	ACG		0.378	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		T	40944268	C	T	40944268	3	4	16	1	0	0	0	0	1	0	0	0	2663	536	19	1	6540	1	CASC5	15	40944268	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		40944268	61587124	33	1190											
SPATA5L1	79029	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr15	45707899	45707899	+	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	gtgatgttcaagaacgagttCtttctgttctcctgaatgaa	10	15	9	7	1	4	4	1	3	3	1	5	5	4	4	1	0	1	3	1	0	4	4			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr15:45707899C>A	ENST00000305560.6	+	5	1858	c.1759C>A	c.(1759-1761)Ctt>Att	p.L587I	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.L587I	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	587						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)		AGAACGAGTTCTTTCTGTTCT	0.398																																						.											0													69	65	66					15																	45707899		2198	4298	6496	SO:0001583	missense	79029			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.1759C>A	15.37:g.45707899C>A	ENSP00000305494:p.Leu587Ile		C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.363412|4.363412	0.82353|0.82353	.|.	.|.	ENSG00000171763|ENSG00000171763	ENST00000531624|ENST00000305560	.|D	.|0.93076	.|-3.16	5.54|5.54	4.61|4.61	0.57282|0.57282	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.93815|0.93815	0.8022|0.8022	L|L	0.42529|0.42529	1.33|1.33	0.41337|0.41337	D|D	0.987271|0.987271	.|D	.|0.54397	.|0.966	.|P	.|0.61397	.|0.888	D|D	0.92006|0.92006	0.5614|0.5614	5|10	.|0.21014	.|T	.|0.42	-18.5177|-18.5177	14.7514|14.7514	0.69528|0.69528	0.1461:0.8539:0.0:0.0|0.1461:0.8539:0.0:0.0	.|.	.|587	.|Q9BVQ7	.|SPA5L_HUMAN	L|I	91|587	.|ENSP00000305494:L587I	.|ENSP00000305494:L587I	F|L	+|+	3|1	2|0	SPATA5L1|SPATA5L1	43495191|43495191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.522000|6.522000	0.73783|0.73783	1.450000|1.450000	0.47717|0.47717	-0.181000|-0.181000	0.13052|0.13052	TTC|CTT		0.398	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		A	45707899	C	A	45707899	3	1	16	1	0	0	0	0	1	0	0	0	15011	913	32	5	1777	5	SPATA5L1	15	45707899	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	4763631	45707899	56823493	34	1191											
ZNF609	23060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	64966530	64966530	+	Missense_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	acagaaactgcccctcccccGtcctaattgactgtccccac	9	8	5	19	1	0	2	0	1	0	1	3	2	3	2	7	0	2	0	7	0	2	2	rs200890644		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr15:64966530G>A	ENST00000326648.3	+	4	1605	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	493						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						CCCCTCCCCCGTCCTAATTGA	0.522													G|||	1	0.000199681	0	0	5008	,	,		18089	0		0	False		,,,				2504	0.001					.											0								G	ILE/VAL	0,4406		0,0,2203	85	70	75		1477	5.6	1	15		75	6,8592	5.0+/-18.6	0,6,4293	yes	missense	ZNF609	NM_015042.1	29	0,6,6496	AA,AG,GG		0.0698,0.0,0.0461	benign	493/1412	64966530	6,12998	2203	4299	6502	SO:0001583	missense	23060			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.1477G>A	15.37:g.64966530G>A	ENSP00000316527:p.Val493Ile		Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775434	0.31411	0.0	6.98E-4	ENSG00000180357	ENST00000326648	T	0.53857	0.6	5.61	5.61	0.85477	.	0.108019	0.64402	D	0.000006	T	0.38558	0.1045	L	0.33093	0.98	0.46849	D	0.999221	B	0.10296	0.003	B	0.13407	0.009	T	0.25676	-1.0125	10	0.33940	T	0.23	-11.9829	7.3316	0.26586	0.2008:0.0:0.7992:0.0	.	493	O15014	ZN609_HUMAN	I	493	ENSP00000316527:V493I	ENSP00000316527:V493I	V	+	1	0	ZNF609	62753583	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	4.442000	0.59988	2.638000	0.89438	0.650000	0.86243	GTC		0.522	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64966530	G	A	64966530	3	1	16	1	0	0	0	0	1	0	0	0	18032	1145	40	1	1491	1	ZNF609	15	64966530	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	19258631	64966530	37564862	35	1192											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7577114	7577114	+	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	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	AGGACAGGCACAAACACGCAC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M							71	61	64					17																	7577114		2203	4300	6503	SO:0001583	missense	7157	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;	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr		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	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577114	C	T	7577114	3	4	16	1	0	0	0	0	1	0	0	0	16378	478	17	4	462	4	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		7577114	73618096	36	1193											
ZNF624	57547	bcgsc.ca	37	chr17	16527795	16527795	+	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	atagcctttgttcgtgtagcCttcttggttgcaggtttggg	4	17	13	7	1	1	0	0	0	1	0	2	0	1	0	2	3	3	5	2	3	2	8	rs8065506	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:16527795C>A	ENST00000311331.7	-	6	496	c.405G>T	c.(403-405)aaG>aaT	p.K135N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	135			K -> N (in dbSNP:rs8065506). {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCGTGTAGCCTTCTTGGTTG	0.413													A|||	2443	0.487819	0.6906	0.3847	5008	,	,		17540	0.5347		0.2674	False		,,,				2504	0.4652				NSCLC(186;1023 2134 13330 38202 39800)	.											0			GRCh37	CM067489	ZNF624	M	rs8065506	A	ASN/LYS	2841,1565	491.1+/-362.0	916,1009,278	93	88	90		405	2.9	0.2	17	dbSNP_116	90	2334,6266	704.8+/-405.4	301,1732,2267	yes	missense	ZNF624	NM_020787.3	94	1217,2741,2545	AA,AC,CC		27.1395,35.5197,39.7893	benign	135/866	16527795	5175,7831	2203	4300	6503	SO:0001583	missense	57547			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.405G>T	17.37:g.16527795C>A	ENSP00000310472:p.Lys135Asn		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	939	0.42994505494505497	319	0.6483739837398373	128	0.35359116022099446	301	0.5262237762237763	191	0.2519788918205805	A	0.062	-1.222243	0.01530	0.644803	0.271395	ENSG00000197566	ENST00000311331	T	0.05382	3.45	2.92	2.92	0.33932	.	.	.	.	.	T	0.00012	0.0000	N	0.17474	0.49	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.10314	-1.0635	8	0.16896	T	0.51	.	7.3813	0.26858	0.5465:0.4535:0.0:0.0	rs8065506;rs52795751;rs61430075;rs8065506	135	Q9P2J8	ZN624_HUMAN	N	135	ENSP00000310472:K135N	ENSP00000310472:K135N	K	-	3	2	ZNF624	16468520	0.001000	0.12720	0.193000	0.23327	0.310000	0.27922	0.419000	0.21247	0.537000	0.28751	-0.262000	0.10625	AAG		0.413	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		A	16527795	C	A	16527795	3	1	16	1	0	0	0	0	1	0	0	0	18045	680	24	5	2196	5	ZNF624	17	16527795	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10	8950681	16527795	64667415	37	1194											
UBTF	7343	mdanderson.org	37	chr17	42287519	42287519	+	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	cgcttttggtcttcggctgcCttcttaatccacatcagttt	5	17	7	12	2	3	0	1	0	2	0	5	0	4	0	2	2	1	3	2	2	1	6	rs2071167	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:42287519C>T	ENST00000302904.4	-	15	2091	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	UBTF_ENST00000527034.1_Silent_p.K496K|UBTF_ENST00000533177.1_Silent_p.K496K|UBTF_ENST00000529383.1_Silent_p.K533K|UBTF_ENST00000393606.3_Silent_p.K496K|UBTF_ENST00000343638.5_Silent_p.K496K|UBTF_ENST00000436088.1_Silent_p.K533K|UBTF_ENST00000526094.1_Silent_p.K496K|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	533					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCGGCTGCCTTCTTAATCC	0.512											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2261	0.451478	0.6157	0.3646	5008	,	,		21021	0.6915		0.2416	False		,,,				2504	0.2597					.											0								C	,,	2335,2071	605.8+/-390.6	617,1101,485	187	195	192		1488,1488,1599	3.3	1	17	dbSNP_96	192	2174,6426	372.0+/-336.5	280,1614,2406	no	coding-synonymous,coding-synonymous,coding-synonymous	UBTF	NM_001076683.1,NM_001076684.2,NM_014233.3	,,	897,2715,2891	TT,TC,CC		25.2791,47.0041,34.6686	,,	496/728,496/728,533/765	42287519	4509,8497	2203	4300	6503	SO:0001819	synonymous_variant	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1599G>A	17.37:g.42287519C>T		907	A8K6R8	Silent	SNP	ENST00000302904.4	37	CCDS11480.1																																																																																				0.512	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		T	42287519	C	T	42287519	2	4	16	1	0	0	0	0	0	0	0	1	16906	680	24	4		4	UBTF	17	42287519	Silent	SNP	C	TCGA-KL-8338-01A-11D-2310-10	25759724	42287519	38907691	38	1195											
CACNA1G	8913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	48653145	48653145	+	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	ctctcgggcagcaggtgtgcGggttgggctgctcagcagcc	4	8	17	12	2	2	0	1	0	1	0	3	0	2	0	1	4	5	6	1	4	0	1			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:48653145G>A	ENST00000359106.5	+	8	1382	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	CACNA1G_ENST00000515411.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R461Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R461Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R461Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R461Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R461Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R461Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R461Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R461Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R461Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R461Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R461Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	461					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)	GCAGGTGTGCGGGTTGGGCTG	0.677																																						.											0													10	13	12					17																	48653145		1905	4073	5978	SO:0001583	missense	8913			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.1382G>A	17.37:g.48653145G>A	ENSP00000352011:p.Arg461Gln		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	15.01	2.705026	0.48412	.	.	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	0.97114	-4.12;-4.12;-4.25;-4.06;-4.12;-4.11;-4.15;-4.18;-4.15;-4.16;-4.17;-4.07;-4.07;-4.12;-4.11;-4.05;-4.15;-4.1;-4.07;-4.15;-4.12;-4.08;-4.14;-4.07;-4.14;-4.14	5.15	4.18	0.49190	.	0.317948	0.29783	N	0.011202	D	0.97433	0.9160	L	0.61036	1.89	0.37399	D	0.912769	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;B;D	0.76494	0.998;0.983;0.997;0.997;0.992;0.998;0.999;0.985;0.999;0.963;0.992;0.99;0.983;0.985;0.999;0.926;0.998;0.959;0.992;0.996;0.998;0.983;0.992;0.983;0.024;0.999	D;B;P;D;P;P;D;P;D;P;P;P;P;P;D;P;P;B;P;P;D;P;P;P;B;P	0.73380	0.96;0.389;0.895;0.98;0.656;0.895;0.974;0.573;0.974;0.474;0.59;0.69;0.493;0.59;0.974;0.474;0.791;0.305;0.573;0.781;0.945;0.493;0.504;0.474;0.003;0.897	D	0.98025	1.0373	10	0.62326	D	0.03	.	8.3868	0.32505	0.2364:0.0:0.7636:0.0	.	461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461;461	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	Q	461	ENSP00000353990:R461Q;ENSP00000339302:R461Q;ENSP00000392390:R461Q;ENSP00000347078:R461Q;ENSP00000409759:R461Q;ENSP00000425522:R461Q;ENSP00000426261:R461Q;ENSP00000425451:R461Q;ENSP00000422407:R461Q;ENSP00000426814:R461Q;ENSP00000427238:R461Q;ENSP00000423112:R461Q;ENSP00000420918:R461Q;ENSP00000426172:R461Q;ENSP00000423045:R461Q;ENSP00000427173:R461Q;ENSP00000426098:R461Q;ENSP00000425698:R461Q;ENSP00000426232:R461Q;ENSP00000423317:R461Q;ENSP00000350979:R461Q;ENSP00000352011:R461Q;ENSP00000414388:R461Q;ENSP00000423155:R461Q;ENSP00000422268:R461Q;ENSP00000421518:R461Q	ENSP00000339302:R461Q	R	+	2	0	CACNA1G	46008144	1.000000	0.71417	0.995000	0.50966	0.130000	0.20726	2.164000	0.42387	1.163000	0.42636	0.655000	0.94253	CGG		0.677	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48653145	G	A	48653145	3	1	16	1	0	0	0	0	1	0	0	0	2544	1116	39	1	1412	1	CACNA1G	17	48653145	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	6365626	48653145	32542065	39	1196											
RNMT	8731	broad.mit.edu	37	chr18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-																															acaatatgaaactagtctacAaaaaaacatttctggaattc																										TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr18:13746253delA	ENST00000383314.2	+	9	1414	c.1174delA	c.(1174-1176)aaafs	p.K393fs	RNMT_ENST00000589866.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000262173.3_Frame_Shift_Del_p.K393fs|RNMT_ENST00000592764.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000535051.1_Frame_Shift_Del_p.K151fs|RNMT_ENST00000543302.2_Frame_Shift_Del_p.K393fs			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	393	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.T394fs*19(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ACTAGTCTACAAAAAAACATT	0.308																																					GBM(29;474 594 19092 36647 41529)	.											1	Deletion - Frameshift(1)	large_intestine(1)											65	70	68					18																	13746253		2202	4299	6501	SO:0001589	frameshift_variant	8731			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1174delA	18.37:g.13746253delA	ENSP00000372804:p.Lys393fs		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Frame_Shift_Del	DEL	ENST00000383314.2	37	CCDS11867.1																																																																																				0.308	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		-	13746253	A	-	13746253	7	5	16	1	0	1	0	1	0	0	0	0	13506	131	5	0	1200	0	RNMT	18	13746253	Frame_Shift_Del	DEL	A	TCGA-KL-8338-01A-11D-2310-10		13746253	64330995	40	1197											
C19orf70	125988	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	5679701	5679701	+	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	tagggctgcctggctcttgtCgctgggccccagcagctcct	3	10	13	15	1	1	0	0	0	1	0	3	0	2	0	4	3	3	5	4	3	1	2			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr19:5679701C>A	ENST00000309324.4	-	2	512	c.103G>T	c.(103-105)Gac>Tac	p.D35Y	HSD11B1L_ENST00000422535.2_5'Flank|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000342970.2_5'Flank|HSD11B1L_ENST00000301382.4_5'Flank|RPL36_ENST00000577222.1_5'Flank|C19orf70_ENST00000585605.1_5'UTR|HSD11B1L_ENST00000339423.2_5'Flank|HSD11B1L_ENST00000581773.1_5'Flank|C19orf70_ENST00000590389.1_Missense_Mutation_p.D57Y|HSD11B1L_ENST00000411793.2_5'Flank|HSD11B1L_ENST00000583928.1_5'Flank|HSD11B1L_ENST00000423665.2_5'Flank|C19orf70_ENST00000587950.1_Missense_Mutation_p.D57Y|HSD11B1L_ENST00000577917.1_5'Flank|HSD11B1L_ENST00000581521.1_5'Flank|HSD11B1L_ENST00000581893.1_5'Flank|C19orf70_ENST00000587589.1_Missense_Mutation_p.D35Y	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN	chromosome 19 open reading frame 70	35						mitochondrion (GO:0005739)				endometrium(1)|lung(1)	2						TGGCTCTTGTCGCTGGGCCCC	0.647																																						.											0													31	28	29					19																	5679701		2203	4299	6502	SO:0001583	missense	125988			BC009557	CCDS12143.1	19p13.3	2012-10-26			ENSG00000174917	ENSG00000174917			33702	protein-coding gene	gene with protein product						14702039, 17353931	Standard	NM_205767		Approved	QIL1, P117	uc002mch.1	Q5XKP0		ENST00000309324.4:c.103G>T	19.37:g.5679701C>A	ENSP00000309561:p.Asp35Tyr		Q86YE5	Missense_Mutation	SNP	ENST00000309324.4	37	CCDS12143.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267720	0.40095	.	.	ENSG00000174917	ENST00000309324	T	0.27720	1.65	4.74	2.45	0.29901	.	0.608391	0.14659	N	0.306042	T	0.37404	0.1002	L	0.51422	1.61	0.36444	D	0.865693	D	0.56035	0.974	P	0.52823	0.71	T	0.49606	-0.8922	10	0.72032	D	0.01	-38.7297	9.7456	0.40444	0.1521:0.6992:0.1487:0.0	.	35	Q5XKP0	QIL1_HUMAN	Y	35	ENSP00000309561:D35Y	ENSP00000309561:D35Y	D	-	1	0	C19orf70	5630701	0.004000	0.15560	0.998000	0.56505	0.976000	0.68499	0.225000	0.17757	2.187000	0.69744	0.462000	0.41574	GAC		0.647	C19orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451656.1	NM_205767		A	5679701	C	A	5679701	3	1	16	1	0	0	0	0	1	0	0	0	1947	884	31	5	265	5	C19orf70	19	5679701	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		5679701	53449282	41	1198											
FUT3	2525	bcgsc.ca	37	chr19	5843877	5843877	+	Missense_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	tgaaggagcgaggccgcagcGtctcccgccagcgaaagtag	10	4	15	12	5	1	1	0	1	1	0	2	4	1	2	3	2	3	2	3	2	3	1	rs28381969	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr19:5843877G>A	ENST00000303225.6	-	3	1608	c.974C>T	c.(973-975)aCg>aTg	p.T325M	FUT3_ENST00000589918.1_Missense_Mutation_p.T325M|FUT3_ENST00000458379.2_Missense_Mutation_p.T325M|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Missense_Mutation_p.T325M	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	325			T -> M (in dbSNP:rs28381969). {ECO:0000269|Ref.5}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGCCGCAGCGTCTCCCGCCA	0.637													G|||	37	0.00738818	0.025	0.0043	5008	,	,		19604	0.001		0	False		,,,				2504	0				Esophageal Squamous(82;745 1728 24593 44831)	.											0													42	45	44					19																	5843877		2203	4300	6503	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.974C>T	19.37:g.5843877G>A	ENSP00000305603:p.Thr325Met		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	36	0.016483516483516484	18	0.036585365853658534	1	0.0027624309392265192	6	0.01048951048951049	11	0.014511873350923483	G	12.11	1.838692	0.32513	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.24350	1.86;1.86	2.29	1.18	0.20946	.	0.943966	0.08680	N	0.909636	T	0.07413	0.0187	M	0.79805	2.47	0.09310	N	1	P;P;P;P	0.38617	0.64;0.483;0.483;0.483	B;B;B;B	0.36186	0.219;0.148;0.148;0.148	T	0.11494	-1.0585	10	0.37606	T	0.19	.	5.4124	0.16356	0.1897:0.0:0.8103:0.0	rs28381969	325;325;325;325	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	M	325	ENSP00000305603:T325M;ENSP00000416443:T325M	ENSP00000305603:T325M	T	-	2	0	FUT3	5794877	0.000000	0.05858	0.620000	0.29132	0.507000	0.33981	-1.150000	0.03178	0.242000	0.21303	0.194000	0.17425	ACG		0.637	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5843877	G	A	5843877	3	1	16	1	0	0	0	0	1	0	0	0	6105	1145	40	1	115	1	FUT3	19	5843877	Missense_Mutation	SNP	G	TCGA-KL-8338-01A-11D-2310-10	164176	5843877	53285106	42	1199											
TMEM150B	284417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	55824239	55824239	+	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	ggtgcctgctacagctggacCggcagggagatgggggaggc	7	5	20	9	1	0	1	0	0	0	1	0	4	0	3	2	7	4	3	2	7	1	1			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr19:55824239C>T	ENST00000326652.4	-	8	872	c.690G>A	c.(688-690)ccG>ccA	p.P230P	TMEM150B_ENST00000438693.1_Silent_p.P230P|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	230						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						ACAGCTGGACCGGCAGGGAGA	0.667																																						.											0													6	8	8					19																	55824239		1959	4082	6041	SO:0001819	synonymous_variant	284417			BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.690G>A	19.37:g.55824239C>T			B7ZW71	Silent	SNP	ENST00000326652.4	37	CCDS42629.1																																																																																				0.667	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		T	55824239	C	T	55824239	2	4	16	1	0	0	0	0	0	0	0	1	16065	639	23	1		1	TMEM150B	19	55824239	Silent	SNP	C	TCGA-KL-8338-01A-11D-2310-10	49980362	55824239	3304744	43	1200											
EDEM2	55741	bcgsc.ca	37	chr20	33711701	33711701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgctgctcacctggccgaAgtgggtagccctctcgcttc	6	10	11	14	2	2	0	1	0	1	0	4	1	2	0	3	2	3	4	3	2	3	2			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr20:33711701A>G	ENST00000374492.3	-	9	1211	c.1106T>C	c.(1105-1107)cTt>cCt	p.L369P	EDEM2_ENST00000540582.1_Missense_Mutation_p.L328P|EDEM2_ENST00000374491.3_Missense_Mutation_p.L332P|EDEM2_ENST00000541621.1_Missense_Mutation_p.L148P|EDEM2_ENST00000542871.1_Missense_Mutation_p.L93P	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	369					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACCTGGCCGAAGTGGGTAGCC	0.542																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	.											0													91	79	83					20																	33711701		2203	4300	6503	SO:0001583	missense	55741			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1106T>C	20.37:g.33711701A>G	ENSP00000363616:p.Leu369Pro		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886671	0.91814	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	H	0.98664	4.295	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	0.90157	0.4225	10	0.87932	D	0	-15.4479	16.3662	0.83325	1.0:0.0:0.0:0.0	.	328;148;332;369	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	P	332;369;148;93;328	ENSP00000363615:L332P;ENSP00000363616:L369P;ENSP00000443528:L148P;ENSP00000441642:L93P;ENSP00000441548:L328P	ENSP00000363615:L332P	L	-	2	0	EDEM2	33175362	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.339000	0.96797	2.274000	0.75844	0.533000	0.62120	CTT		0.542	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		G	33711701	A	G	33711701	3	3	16	1	0	0	0	0	1	0	0	0	4912	72	3	2	642	2	EDEM2	20	33711701	Missense_Mutation	SNP	A	TCGA-KL-8338-01A-11D-2310-10		33711701	29313819	44	1201											
MN1	4330	mdanderson.org	37	chr22	28194900	28194900	+	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	cgctgctgctgctgctgctgTtgctgttgctgttgctgctg	0	16	14	11	1	0	0	0	0	0	0	0	0	0	0	0	0	9	13	0	0	0	3	rs202212250|rs530519178	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr22:28194900T>C	ENST00000302326.4	-	1	2586	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	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						gctgctgctgttgctgttgct	0.647			T	ETV6	"AML, meningioma"								C|||	5	0.000998403	0.0023	0	5008	,	,		12597	0		0	False		,,,				2504	0.002					.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0																																										SO:0001819	synonymous_variant	4330			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.1632A>G	22.37:g.28194900T>C			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28194900	T	C	28194900	2	2	16	1	0	0	0	0	0	0	0	1	9673	1722	60	2		2	MN1	22	28194900	Silent	SNP	T	TCGA-KL-8338-01A-11D-2310-10		28194900	23109666	45	1202											
TRABD	80305	ucsc.edu	37	chr22	50636349	50636349	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaccgcaccatcgtcTcggagcgcgacgtctaccta	8	7	9	17	6	2	0	0	0	2	0	4	2	2	1	4	1	3	2	4	1	2	2			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr22:50636349T>C	ENST00000303434.4	+	8	888	c.769T>C	c.(769-771)Tcg>Ccg	p.S257P	TRABD_ENST00000380909.4_Missense_Mutation_p.S257P|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000395829.1_Missense_Mutation_p.S257P|TRABD_ENST00000395827.1_Missense_Mutation_p.S257P	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	257										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)		CACCATCGTCTCGGAGCGCGA	0.657																																						.											0													141	106	118					22																	50636349		2203	4300	6503	SO:0001583	missense	80305			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.769T>C	22.37:g.50636349T>C	ENSP00000305664:p.Ser257Pro		Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584092	0.28268	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.1	2.87	0.33458	.	0.190451	0.46442	D	0.000281	T	0.39410	0.1077	L	0.44542	1.39	0.48236	D	0.999612	B;P	0.39071	0.305;0.658	B;P	0.45428	0.242;0.48	T	0.10451	-1.0629	10	0.48119	T	0.1	-13.5527	8.1305	0.31024	0.1339:0.0:0.1404:0.7257	.	211;257	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	P	257	ENSP00000370295:S257P;ENSP00000305664:S257P;ENSP00000379171:S257P;ENSP00000379173:S257P	ENSP00000305664:S257P	S	+	1	0	TRABD	48978476	1.000000	0.71417	0.027000	0.17364	0.040000	0.13550	2.494000	0.45329	0.235000	0.21160	-0.516000	0.04426	TCG		0.657	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		C	50636349	T	C	50636349	3	2	16	1	0	0	0	0	1	0	0	0	16432	1551	54	2	795	2	TRABD	22	50636349	Missense_Mutation	SNP	T	TCGA-KL-8338-01A-11D-2310-10	22441449	50636349	668217	46	1203											
AFF2	2334	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	147924508	147924508	+	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	aggaatcgcagcatctgaccCcaggattcaccttacaaagt	13	8	8	12	1	2	1	1	1	1	0	3	3	2	3	3	2	2	2	3	2	3	2			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chrX:147924508C>T	ENST00000370460.2	+	6	1671	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	AFF2_ENST00000286437.5_Missense_Mutation_p.P39S|AFF2_ENST00000342251.3_Missense_Mutation_p.P365S|AFF2_ENST00000370457.5_Missense_Mutation_p.P365S|AFF2_ENST00000370458.1_Missense_Mutation_p.P365S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	398					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)					GCATCTGACCCCAGGATTCAC	0.348																																						.											0													92	87	89					X																	147924508		2203	4299	6502	SO:0001583	missense	2334			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.1192C>T	X.37:g.147924508C>T	ENSP00000359489:p.Pro398Ser		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	8.659	0.900042	0.17686	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.67	4.7	0.59300	.	0.229244	0.38005	N	0.001852	T	0.32823	0.0842	N	0.03930	-0.32	0.31930	N	0.612348	B;B;B;B;B;B;B	0.33583	0.418;0.165;0.165;0.165;0.165;0.198;0.017	B;B;B;B;B;B;B	0.34873	0.191;0.121;0.121;0.121;0.121;0.191;0.023	T	0.31998	-0.9923	10	0.32370	T	0.25	.	3.4715	0.07569	0.0:0.6736:0.0:0.3264	.	39;369;365;365;394;398;365	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	S	398;365;365;365;39	ENSP00000359489:P398S;ENSP00000359486:P365S;ENSP00000345459:P365S;ENSP00000359487:P365S;ENSP00000286437:P39S	ENSP00000286437:P39S	P	+	1	0	AFF2	147732200	1.000000	0.71417	0.978000	0.43139	0.873000	0.50193	2.680000	0.46918	2.374000	0.81015	0.540000	0.68198	CCA		0.348	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	147924508	C	T	147924508	3	4	16	1	0	0	0	0	1	0	0	0	357	623	22	3	1269	3	AFF2	23	147924508	Missense_Mutation	SNP	C	TCGA-KL-8338-01A-11D-2310-10		147924508	7346052	47	1204											
ATAD3C	219293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	1391260	1391260	+	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	tacaggcacatcctgctgtaCgggccaccaggcaccgggaa	10	5	12	14	2	0	0	0	0	0	0	1	1	1	1	4	4	3	4	4	4	3	2	rs569952968		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:1391260C>T	ENST00000378785.2	+	6	1523	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	176							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)		TCCTGCTGTACGGGCCACCAG	0.627													c|||	1	0.000199681	8e-04	0	5008	,	,		19249	0		0	False		,,,				2504	0					.											0													79	87	84					1																	1391260		692	1591	2283	SO:0001819	synonymous_variant	219293			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.528C>T	1.37:g.1391260C>T			Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.627	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		T	1391260	C	T	1391260	2	4	17	1	0	0	0	0	0	0	0	1	1075	547	19	1		1	ATAD3C	1	1391260	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10		1391260	247859361	1	1205											
CDK11A	728642	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr1	1647844	1647844	+	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	ttctgtctttcccattcccgGcgagctttatcctgttcttc	3	18	6	14	2	3	0	0	0	3	0	7	1	6	0	3	1	1	2	3	1	1	7	rs368053496		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:1647844G>A	ENST00000378633.1	-	5	478	c.399C>T	c.(397-399)cgC>cgT	p.R133R	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Silent_p.R109R|CDK11A_ENST00000356200.3_Silent_p.R109R|CDK11A_ENST00000404249.3_Silent_p.R143R|CDK11A_ENST00000358779.5_Silent_p.R133R|CDK11A_ENST00000357760.2_Silent_p.R133R|CDK11A_ENST00000378635.3_Silent_p.R133R			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	133	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCCATTCCCGGCGAGCTTTAT	0.483																																					Pancreas(186;965 2119 30274 40311 50569)	.											0													227	224	225					1																	1647844		1977	4163	6140	SO:0001819	synonymous_variant	984			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.399C>T	1.37:g.1647844G>A			O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37																																																																																					0.483	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		A	1647844	G	A	1647844	2	1	17	1	0	0	0	0	0	0	0	1	3126	1190	42	3		3	CDK11A	1	1647844	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	256584	1647844	247602777	2	1206											
HSPG2	3339	ucsc.edu	37	chr1	22211304	22211304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcaggaatgccaaacAccatgccccgggcgttcatg	10	6	10	15	3	2	0	2	0	0	0	2	1	2	1	5	2	3	1	5	2	2	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:22211304A>G	ENST00000374695.3	-	12	1542	c.1463T>C	c.(1462-1464)gTg>gCg	p.V488A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	488	Ig-like C2-type 1.				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)	AATGCCAAACACCATGCCCCG	0.642																																						.											0													54	42	46					1																	22211304		2203	4300	6503	SO:0001583	missense	3339			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.1463T>C	1.37:g.22211304A>G	ENSP00000363827:p.Val488Ala		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.492182	0.44352	.	.	ENSG00000142798	ENST00000374695	T	0.37752	1.18	5.32	4.18	0.49190	.	0.000000	0.33110	N	0.005264	T	0.42086	0.1187	N	0.21282	0.65	0.52501	D	0.999958	D	0.59357	0.985	D	0.73708	0.981	T	0.25502	-1.0130	10	0.48119	T	0.1	.	9.4212	0.38553	0.9145:0.0:0.0854:0.0	.	488	P98160	PGBM_HUMAN	A	488	ENSP00000363827:V488A	ENSP00000363827:V488A	V	-	2	0	HSPG2	22083891	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	6.779000	0.75057	0.848000	0.35191	-0.441000	0.05720	GTG		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		G	22211304	A	G	22211304	3	3	17	1	0	0	0	0	1	0	0	0	7430	159	6	2	12056	2	HSPG2	1	22211304	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	20563460	22211304	227039317	3	1207											
RBMXL1	494115	broad.mit.edu;mdanderson.org	37	chr1	89449440	89449440	+	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	tttgccaaatactgtttcaaGagctttctcatttgtttccg	8	18	6	9	1	2	1	2	0	1	1	4	1	3	1	2	0	3	3	2	0	3	6			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:89449440G>T	ENST00000321792.5	-	2	497	c.70C>A	c.(70-72)Ctt>Att	p.L24I	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.L24I|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	24	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ACTGTTTCAAGAGCTTTCTCA	0.413											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													185	184	185					1																	89449440		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.70C>A	1.37:g.89449440G>T	ENSP00000318415:p.Leu24Ile	1267		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156042	0.78114	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.37915	1.17;1.17	1.28	1.28	0.21552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000009	T	0.32255	0.0823	L	0.31845	0.965	0.41177	D	0.986203	P	0.44344	0.833	D	0.73380	0.98	T	0.18398	-1.0338	10	0.66056	D	0.02	-1.6719	8.103	0.30868	0.0:0.0:1.0:0.0	.	24	Q96E39	RBMXL_HUMAN	I	24	ENSP00000318415:L24I;ENSP00000446099:L24I	ENSP00000318415:L24I	L	-	1	0	RBMXL1	89222028	1.000000	0.71417	0.821000	0.32701	0.926000	0.56050	2.359000	0.44142	0.693000	0.31634	0.306000	0.20318	CTT		0.413	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		T	89449440	G	T	89449440	3	4	17	1	0	0	0	0	1	0	0	0	13153	942	33	5	1106	5	RBMXL1	1	89449440	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	67238136	89449440	159801181	4	1208											
VAV3	10451	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	108303461	108303461	+	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	taggaaccacaagcaagtctCgaagagtaaatttcccatta	16	9	7	9	1	1	1	0	0	1	1	3	3	2	2	2	1	2	2	2	1	8	4	rs139065569		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:108303461C>T	ENST00000370056.4	-	10	1236	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	VAV3_ENST00000371846.4_Missense_Mutation_p.R256Q|VAV3_ENST00000527011.1_Missense_Mutation_p.R321Q|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	321	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)		AAGCAAGTCTCGAAGAGTAAA	0.333																																						.											0								C	GLN/ARG	0,4406		0,0,2203	93	81	85		962	5.7	1	1	dbSNP_134	85	1,8597	1.2+/-3.3	0,1,4298	no	missense	VAV3	NM_006113.4	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	321/848	108303461	1,13003	2203	4299	6502	SO:0001583	missense	10451			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.962G>A	1.37:g.108303461C>T	ENSP00000359073:p.Arg321Gln		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.642639|4.642639	0.87859|0.87859	0.0|0.0	1.16E-4|1.16E-4	ENSG00000134215|ENSG00000134215	ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	.|T;T;T	.|0.61980	.|0.06;0.06;0.06	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68081|0.68081	0.2962|0.2962	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.89917	.|0.873;1.0;0.993;0.993	.|P;D;P;P	.|0.81914	.|0.515;0.995;0.621;0.734	T|T	0.60919|0.60919	-0.7167|-0.7167	5|10	.|0.25106	.|T	.|0.35	.|.	19.7509|19.7509	0.96268|0.96268	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|321;321;256;321	.|B7ZLR1;E9PQ97;B4DHL6;Q9UKW4	.|.;.;.;VAV3_HUMAN	K|Q	316|321;321;256	.|ENSP00000359073:R321Q;ENSP00000432540:R321Q;ENSP00000360912:R256Q	.|ENSP00000359073:R321Q	E|R	-|-	1|2	0|0	VAV3|VAV3	108104984|108104984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.441000|7.441000	0.80485|0.80485	2.664000|2.664000	0.90586|0.90586	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.333	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		T	108303461	C	T	108303461	3	4	17	1	0	0	0	0	1	0	0	0	17130	884	31	1	1678	1	VAV3	1	108303461	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	18854021	108303461	140947160	5	1209											
CD1A	909	mdanderson.org	37	chr1	158226667	158226667	+	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	tcaggattctacccaaagccCgtgtgggtgatgtggatgcg	8	10	14	9	2	2	1	1	1	1	0	2	3	2	3	2	3	3	0	2	3	2	2	rs1042388	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:158226667C>T	ENST00000289429.5	+	4	1229	c.696C>T	c.(694-696)ccC>ccT	p.P232P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	232	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACCCAAAGCCCGTGTGGGTGA	0.627													c|||	169	0.033746	0.0129	0.049	5008	,	,		17473	0		0.0835	False		,,,				2504	0.0348					.											0								C		111,4295	84.8+/-123.5	4,103,2096	90	85	86		696	-7.6	0	1	dbSNP_86	86	768,7828	182.8+/-231.1	27,714,3557	no	coding-synonymous	CD1A	NM_001763.2		31,817,5653	TT,TC,CC		8.9344,2.5193,6.7605		232/328	158226667	879,12123	2203	4298	6501	SO:0001819	synonymous_variant	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.696C>T	1.37:g.158226667C>T			D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	CCDS1174.1																																																																																				0.627	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		T	158226667	C	T	158226667	2	4	17	1	0	0	0	0	0	0	0	1	2974	639	23	1		1	CD1A	1	158226667	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	49923206	158226667	91023954	6	1210											
OR10J5	127385	broad.mit.edu	37	chr1	159504971	159504971	+	Missense_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	agggagtgatgatggtgtacGtcactgagagaacaaggtct	12	9	15	5	1	2	4	1	3	1	1	2	6	2	5	0	3	2	1	0	3	3	1	rs149096656	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:159504971G>A	ENST00000334857.2	-	1	871	c.827C>T	c.(826-828)aCg>aTg	p.T276M		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	276						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(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GATGGTGTACGTCACTGAGAG	0.463																																						.											0								G	MET/THR	0,4406		0,0,2203	90	86	87		827	3.9	1	1	dbSNP_134	87	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR10J5	NM_001004469.1	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	276/310	159504971	3,13003	2203	4300	6503	SO:0001583	missense	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.827C>T	1.37:g.159504971G>A	ENSP00000334441:p.Thr276Met		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112783	0.20795	0.0	3.49E-4	ENSG00000184155	ENST00000334857	T	0.00058	8.79	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.12527	0.23	0.28773	N	0.900281	D	0.71674	0.998	D	0.66497	0.944	T	0.43163	-0.9408	9	0.40728	T	0.16	.	7.6339	0.28255	0.116:0.0:0.884:0.0	.	276	Q8NHC4	O10J5_HUMAN	M	276	ENSP00000334441:T276M	ENSP00000334441:T276M	T	-	2	0	OR10J5	157771595	0.077000	0.21312	0.996000	0.52242	0.006000	0.05464	3.109000	0.50345	2.178000	0.69098	0.491000	0.48974	ACG		0.463	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		A	159504971	G	A	159504971	3	1	17	1	0	0	0	0	1	0	0	0	10912	1145	40	1	104	1	OR10J5	1	159504971	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	1278304	159504971	89745650	7	1211											
TEDDM1	127670	bcgsc.ca	37	chr1	182368966	182368966	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgataccaaaaggaagagaAgccatagattcccaacagga	19	5	9	8	0	0	3	0	1	0	2	1	6	1	5	3	2	3	0	3	2	7	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:182368966A>G	ENST00000367565.1	-	1	785	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	219						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AAGGAAGAGAAGCCATAGATT	0.478																																						.											0													85	76	79					1																	182368966		2203	4300	6503	SO:0001583	missense	127670			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.655T>C	1.37:g.182368966A>G	ENSP00000356536:p.Phe219Leu		Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	CCDS30953.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310316	0.23821	.	.	ENSG00000203730	ENST00000367565	T	0.39787	1.06	4.73	-3.63	0.04529	.	1.234140	0.05592	N	0.574800	T	0.14700	0.0355	N	0.03983	-0.305	0.09310	N	1	B	0.22480	0.07	B	0.23419	0.046	T	0.20940	-1.0260	10	0.02654	T	1	-19.7017	4.4093	0.11425	0.2002:0.5281:0.1634:0.1084	.	219	Q5T9Z0	TEDM1_HUMAN	L	219	ENSP00000356536:F219L	ENSP00000356536:F219L	F	-	1	0	TEDDM1	180635589	0.000000	0.05858	0.001000	0.08648	0.873000	0.50193	-2.654000	0.00855	-0.929000	0.03757	0.460000	0.39030	TTC		0.478	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		G	182368966	A	G	182368966	3	3	17	1	0	0	0	0	1	0	0	0	15746	72	3	2	170	2	TEDDM1	1	182368966	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	22863995	182368966	66881655	8	1212											
KCNF1	3754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	11053758	11053758	+	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	atcgccatcgccctgcccatCcaccccatcatcaacaactt	10	8	3	20	2	2	0	2	0	0	0	5	0	3	0	6	0	3	0	6	0	2	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:11053758C>T	ENST00000295082.1	+	1	1696	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	402					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 activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCTGCCCATCCACCCCATCA	0.597																																						.											0													148	112	124					2																	11053758		2203	4300	6503	SO:0001819	synonymous_variant	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1206C>T	2.37:g.11053758C>T			O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	CCDS1676.1																																																																																				0.597	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		T	11053758	C	T	11053758	2	4	17	1	0	0	0	0	0	0	0	1	8026	845	30	3		3	KCNF1	2	11053758	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10		11053758	232145615	9	1213											
HS6ST1	9394	broad.mit.edu;mdanderson.org	37	chr2	129025737	129025737	+	Nonstop_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	cccgtggccaccaccgccacTaccacttctcaatgatgtgg	8	8	8	17	2	1	1	1	1	1	0	2	1	1	1	6	2	1	0	6	2	2	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:129025737T>A	ENST00000259241.6	-	2	1248	c.1235A>T	c.(1234-1236)tAg>tTg	p.*412L		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	0					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)		CCACCGCCACTACCACTTCTC	0.642																																						.											0													8	9	8					2																	129025737		1828	3965	5793	SO:0001578	stop_lost	9394			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.1235A>T	2.37:g.129025737T>A			B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.810086	0.50421	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5576	0.61768	0.0:0.0:0.0:1.0	.	.	.	.	L	412	.	.	X	-	2	0	HS6ST1	128742207	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	3.892000	0.56235	1.671000	0.50874	0.260000	0.18958	TAG		0.642	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		A	129025737	T	A	129025737	4	1	17	1	0	0	0	0	0	0	0	0	7370	1535	53	5	4	5	HS6ST1	2	129025737	Nonstop_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10	117971979	129025737	114173636	10	1214			1	10		2	2	22	N	T_C	6.647769e-05
HS6ST1	9394	mdanderson.org	37	chr2	129025758	129025758	+	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	accacttctcaatgatgtggCtcatgtagtcctcggtgggc	7	12	11	11	1	2	1	2	1	1	0	5	1	3	1	2	3	0	2	2	3	2	2	rs142919429		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:129025758C>A	ENST00000259241.6	-	2	1227	c.1214G>T	c.(1213-1215)aGc>aTc	p.S405I		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	405					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)		AATGATGTGGCTCATGTAGTC	0.662																																						.											0													10	11	11					2																	129025758		1890	4033	5923	SO:0001583	missense	9394			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.1214G>T	2.37:g.129025758C>A	ENSP00000259241:p.Ser405Ile		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	CCDS42748.1	335	0.1533882783882784	57	0.11585365853658537	66	0.18232044198895028	83	0.1451048951048951	129	0.17018469656992086	C	14.89	2.670501	0.47781	.	.	ENSG00000136720	ENST00000259241	D	0.84223	-1.82	4.19	4.19	0.49359	.	0.086180	0.85682	D	0.000000	T	0.00580	0.0019	L	0.56769	1.78	0.22171	P	0.999317387	P	0.44578	0.838	B	0.35413	0.202	T	0.34650	-0.9820	8	.	.	.	-0.0214	16.8907	0.86086	0.0:1.0:0.0:0.0	.	405	O60243	H6ST1_HUMAN	I	405	ENSP00000259241:S405I	.	S	-	2	0	HS6ST1	128742228	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.206000	0.51098	2.054000	0.61138	0.313000	0.20887	AGC		0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		A	129025758	C	A	129025758	3	1	17	1	0	0	0	0	1	0	0	0	7370	797	28	5	25	5	HS6ST1	2	129025758	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	21	129025758	114173615	11	1215			1	10		2	2	22	N	T_C	6.647769e-05
RUFY4	285180	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	218940146	218940146	+	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	gcactcagaaggaggtgataGggatggaggctgaggtcaca	12	6	17	6	0	2	3	2	2	0	1	2	6	2	6	0	6	0	2	0	6	2	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:218940146G>C	ENST00000344321.7	+	9	1449	c.931G>C	c.(931-933)Ggg>Cgg	p.G311R	RUFY4_ENST00000374155.3_Missense_Mutation_p.G331R|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	311							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGTGATAGGGATGGAGGC	0.572																																						.											0													36	36	36					2																	218940146		2016	4185	6201	SO:0001583	missense	285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.931G>C	2.37:g.218940146G>C	ENSP00000345900:p.Gly311Arg		Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37		.	.	.	.	.	.	.	.	.	.	G	15.50	2.852055	0.51270	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.52754	1.36;0.65	4.46	-0.99	0.10238	.	0.730338	0.12322	N	0.479218	T	0.26268	0.0641	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.15636	-1.0430	10	0.19590	T	0.45	-3.477	3.3551	0.07167	0.4335:0.0:0.3818:0.1847	.	311	Q6ZNE9	RUFY4_HUMAN	R	311;331	ENSP00000345900:G311R;ENSP00000363270:G331R	ENSP00000345900:G311R	G	+	1	0	RUFY4	218648391	0.004000	0.15560	0.000000	0.03702	0.228000	0.25075	1.215000	0.32431	-0.083000	0.12618	0.467000	0.42956	GGG		0.572	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		C	218940146	G	C	218940146	3	2	17	1	0	0	0	0	1	0	0	0	13741	1000	35	5	957	5	RUFY4	2	218940146	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	89914388	218940146	24259227	12	1216											
HES6	55502	hgsc.bcm.edu;ucsc.edu	37	chr2	239147555	239147555	+	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	aagtcgggcccctcagcaggAgcctgactcagttcagcctc	8	7	11	15	1	3	1	3	1	0	0	5	2	3	2	4	2	3	2	4	2	1	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:239147555A>G	ENST00000272937.5	-	4	806	c.588T>C	c.(586-588)gcT>gcC	p.A196A	AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409160.3_3'UTR|HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409182.1_Silent_p.A167A|HES6_ENST00000409002.3_Silent_p.A194A					hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCTCAGCAGGAGCCTGACTCA	0.692																																						.											0													7	8	8					2																	239147555		2167	4256	6423	SO:0001819	synonymous_variant	55502			AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"Basic helix-loop-helix proteins"	18254	protein-coding gene	gene with protein product		610331	"hairy and enhancer of split 6 (Drosophila)"			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000272937.5:c.588T>C	2.37:g.239147555A>G				Silent	SNP	ENST00000272937.5	37	CCDS2527.1																																																																																				0.692	HES6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257170.2	NM_018645		G	239147555	A	G	239147555	2	3	17	1	0	0	0	0	0	0	0	1	7070	291	11	2		2	HES6	2	239147555	Silent	SNP	A	TCGA-KL-8339-01A-11D-2310-10	20207409	239147555	4051818	13	1217											
EOMES	8320	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	27763289	27763289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgccccagccgccgccTggtacgggaagagtgagcag	7	3	18	13	4	0	2	0	1	0	1	0	3	0	3	5	4	3	2	5	4	2	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:27763289T>C	ENST00000295743.4	-	1	700	c.497A>G	c.(496-498)cAg>cGg	p.Q166R	EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.Q166R|EOMES_ENST00000461503.1_Intron			O95936	EOMES_HUMAN	eomesodermin	166					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGCCGCCGCCTGGTACGGGAA	0.721																																						.											0													4	6	5					3																	27763289		2019	4107	6126	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.497A>G	3.37:g.27763289T>C	ENSP00000295743:p.Gln166Arg		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026049	0.35701	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000535713	D;D	0.85013	-1.93;-1.93	4.11	-0.0134	0.13984	.	1.268390	0.05332	N	0.528499	T	0.69351	0.3101	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.58589	-0.7610	10	0.42905	T	0.14	.	4.5502	0.12108	0.0:0.1166:0.426:0.4574	.	166;166;166	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	R	166;166;31	ENSP00000295743:Q166R;ENSP00000388620:Q166R	ENSP00000295743:Q166R	Q	-	2	0	EOMES	27738293	1.000000	0.71417	0.973000	0.42090	0.978000	0.69477	1.439000	0.35013	0.225000	0.20959	0.379000	0.24179	CAG		0.721	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		C	27763289	T	C	27763289	3	2	17	1	0	0	0	0	1	0	0	0	5147	1580	55	2	1587	2	EOMES	3	27763289	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10		27763289	170259141	14	1218											
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr3	38739683	38739683	+	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	ggcagattggggtcacagtaGgggggccctgtgttgaggat	7	9	19	6	0	1	2	1	1	0	1	1	3	1	3	1	7	0	3	1	7	1	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:38739683G>T	ENST00000449082.2	-	27	5027	c.5028C>A	c.(5026-5028)ccC>ccA	p.P1676P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1676					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Y1677fs*21(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGTCACAGTAGGGGGGCCCTG	0.592																																						.											1	Deletion - Frameshift(1)	pancreas(1)											70	74	72					3																	38739683		2203	4300	6503	SO:0001819	synonymous_variant	6336			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.5028C>A	3.37:g.38739683G>T			A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.592	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38739683	G	T	38739683	2	4	17	1	0	0	0	0	0	0	0	1	13912	987	35	5		5	SCN10A	3	38739683	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	10976394	38739683	159282747	15	1219											
PRSS45	29122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	46784475	46784475	+	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	agggggacaactggggggaaGaaggacttcttgtaatgccg	11	7	17	6	1	1	1	0	0	1	1	1	4	1	4	1	6	2	1	1	6	4	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:46784475G>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.F127L			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGGGGGGAAGAAGGACTTCT	0.532																																					Pancreas(41;915 1239 11561 17469)	.											0													71	78	75					3																	46784475		2069	4212	6281	SO:0001627	intron_variant	377047			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+5639C>A	3.37:g.46784475G>T				Missense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	6.913	0.538018	0.13188	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.88431	-2.38	4.82	0.879	0.19155	.	2.205680	0.01770	N	0.031130	T	0.77177	0.4092	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65561	-0.6138	9	0.10111	T	0.7	.	4.9752	0.14136	0.1879:0.3344:0.4777:0.0	.	127	Q7RTY3-2	.	L	159;127	ENSP00000401932:F127L	ENSP00000330940:F159L	F	-	3	2	PRSS45	46759479	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.091000	0.15046	0.304000	0.22809	0.655000	0.94253	TTC		0.532	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			T	46784475	G	T	46784475	1	4	17	0	1	0	0	0	0	0	0	0	12629	933	33	5		5	PRSS45	3	46784475	Intron	SNP	G	TCGA-KL-8339-01A-11D-2310-10	8044792	46784475	151237955	16	1220											
AMIGO3	29925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	49755708	49755708	+	3'UTR	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	gcgaacaggtagagcagcacGagcacaaggcccacggcaca	14	1	13	13	3	0	1	0	0	0	1	0	3	0	1	1	3	4	5	1	3	3	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:49755708G>A	ENST00000480687.1	-	0	4676				AMIGO3_ENST00000535833.1_Silent_p.L397L|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.L397L|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						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)		AGAGCAGCACGAGCACAAGGC	0.682																																						.											0													51	51	51					3																	49755708		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724			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.*3477C>T	3.37:g.49755708G>A			A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	CCDS2803.1																																																																																				0.682	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		A	49755708	G	A	49755708	1	1	17	0	1	0	0	0	0	0	0	0	577	1045	37	1		1	AMIGO3	3	49755708	3'UTR	SNP	G	TCGA-KL-8339-01A-11D-2310-10	2971233	49755708	148266722	17	1221											
SPCS1	28972	mdanderson.org	37	chr3	52741725	52741725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacttcctccatggcccaTctatcgccggcatcctctca	7	10	6	18	2	2	0	1	0	2	0	7	1	5	0	5	2	0	1	5	2	1	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:52741725T>C	ENST00000602728.1	+	4	375	c.206T>C	c.(205-207)aTc>aCc	p.I69T	GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.I136T|SPCS1_ENST00000423431.1_Missense_Mutation_p.I47T|GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000491606.1_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	69					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)		CCATGGCCCATCTATCGCCGG	0.403																																						.											0													102	105	104					3																	52741725		2203	4300	6503	SO:0001583	missense	28972			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.206T>C	3.37:g.52741725T>C	ENSP00000473265:p.Ile69Thr		B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		.	.	.	.	.	.	.	.	.	.	T	24.7	4.561854	0.86335	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	T;T	0.80653	-1.4;-1.4	5.57	5.57	0.84162	.	0.042790	0.85682	D	0.000000	D	0.85057	0.5610	L	0.58510	1.815	0.46478	D	0.999061	P	0.52692	0.955	P	0.54759	0.76	D	0.86672	0.1911	10	0.72032	D	0.01	-36.8309	15.7316	0.77810	0.0:0.0:0.0:1.0	.	136	Q9Y6A9	SPCS1_HUMAN	T	47;136	ENSP00000391610:I47T;ENSP00000233025:I136T	ENSP00000233025:I136T	I	+	2	0	SPCS1	52716765	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.169000	0.77578	2.109000	0.64355	0.482000	0.46254	ATC		0.403	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		C	52741725	T	C	52741725	3	2	17	1	0	0	0	0	1	0	0	0	15022	1435	50	4	421	4	SPCS1	3	52741725	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10	2986017	52741725	145280705	18	1222											
PDZRN3	23024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	73657758	73657758	+	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	aattaacataccacactcggCcggccaccaataatattgaa	16	8	5	12	2	0	1	0	1	0	0	1	1	0	1	4	2	2	0	4	2	7	5			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:73657758C>G	ENST00000263666.4	-	2	915	c.801G>C	c.(799-801)cgG>cgC	p.R267R	PDZRN3_ENST00000308537.4_Silent_p.R267R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	267	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		CCACACTCGGCCGGCCACCAA	0.473																																						.											0													52	53	53					3																	73657758		2203	4300	6503	SO:0001819	synonymous_variant	23024			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.801G>C	3.37:g.73657758C>G			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	CCDS33789.1																																																																																				0.473	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		G	73657758	C	G	73657758	2	3	17	1	0	0	0	0	0	0	0	1	11709	726	26	5		5	PDZRN3	3	73657758	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	20916033	73657758	124364672	19	1223											
ROBO1	6091	hgsc.bcm.edu;ucsc.edu	37	chr3	78735005	78735005	+	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	acattagtaattgtgaggtcGccagtctgggagactgaaaa	13	10	12	6	1	1	3	0	2	1	1	2	4	1	3	1	2	0	1	1	2	4	3	rs80267939	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:78735005G>A	ENST00000464233.1	-	10	1346	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	ROBO1_ENST00000436010.2_Silent_p.G372G|ROBO1_ENST00000467549.1_Silent_p.G375G|ROBO1_ENST00000495273.1_Silent_p.G375G	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	411	Ig-like C2-type 4.				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)		TTGTGAGGTCGCCAGTCTGGG	0.408													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		16783	0		0	False		,,,				2504	0					.											0								G	,,	9,3839		0,9,1915	59	59	59		1125,1233,1125	-4.1	1	3	dbSNP_132	59	1,8215		0,1,4107	no	coding-synonymous,coding-synonymous,coding-synonymous	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	,,	0,10,6022	AA,AG,GG		0.0122,0.2339,0.0829	,,	375/1552,411/1652,375/1607	78735005	10,12054	1924	4108	6032	SO:0001819	synonymous_variant	6091			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.1233C>T	3.37:g.78735005G>A			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																				0.408	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78735005	G	A	78735005	2	1	17	1	0	0	0	0	0	0	0	1	13513	1074	38	1		1	ROBO1	3	78735005	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	5077247	78735005	119287425	20	1224											
PLXND1	23129	broad.mit.edu	37	chr3	129290413	129290414	+	Frame_Shift_Ins	INS	-	-	C																															ctgcaccatgtggaaacgctINScaccagccactgtgatggtc																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:129290413_129290414insC	ENST00000324093.4	-	17	3452_3453	c.3274_3275insG	c.(3274-3276)gagfs	p.E1092fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.E1092fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1092	IPT/TIG 3.				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						GTGGAAACGCTCACCAGCCACT	0.658																																					Ovarian(97;366 1484 3738 22084 39045)	.											0																																										SO:0001589	frameshift_variant	23129			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.3275dupG	3.37:g.129290414_129290414dupC	ENSP00000317128:p.Glu1092fs		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	ENST00000324093.4	37	CCDS33854.1																																																																																				0.658	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		C	129290414	-	C	129290413	7	5	17	1	0	1	1	0	0	0	0	0	12127	1551	54	0	2582	0	PLXND1	3	129290413	Frame_Shift_Ins	INS	-	TCGA-KL-8339-01A-11D-2310-10	50555408	129290413	68732017	21	1225											
COL6A5	256076	mdanderson.org	37	chr3	130113788	130113788	+	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	tgcgatggctctgacagggtAtctaattcagattttgtaac	10	14	10	7	1	3	2	1	1	2	1	3	3	3	2	0	2	2	3	0	2	3	6			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:130113788A>G	ENST00000432398.2	+	8	3542	c.3048A>G	c.(3046-3048)gtA>gtG	p.V1016V	COL6A5_ENST00000265379.6_Silent_p.V1016V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1016	Nonhelical region.|VWFA 6. {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						CTGACAGGGTATCTAATTCAG	0.348																																						.											0													85	72	76					3																	130113788		692	1591	2283	SO:0001819	synonymous_variant	256076			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.3048A>G	3.37:g.130113788A>G			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																					0.348	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		G	130113788	A	G	130113788	2	3	17	1	0	0	0	0	0	0	0	1	3702	436	16	4		4	COL6A5	3	130113788	Silent	SNP	A	TCGA-KL-8339-01A-11D-2310-10	823375	130113788	67908642	22	1226											
FAM194A	131831	broad.mit.edu	37	chr3	150421548	150421548	+	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	tcctcctcctcctccacctcTtcctcctcctcctccacctc	2	13	0	26	0	1	0	0	0	1	0	12	0	11	0	12	0	0	0	12	0	0	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:150421548T>C	ENST00000295910.6	-	1	190	c.138A>G	c.(136-138)gaA>gaG	p.E46E	RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2												p.E46E(1)		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						cctccacctcttcctcctcct	0.607																																						.											1	Substitution - coding silent(1)	endometrium(1)											121	108	112					3																	150421548		2202	4300	6502	SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.138A>G	3.37:g.150421548T>C				Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				0.607	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			C	150421548	T	C	150421548	2	2	17	1	0	0	0	0	0	0	0	1	5526	1606	56	2		2	FAM194A	3	150421548	Silent	SNP	T	TCGA-KL-8339-01A-11D-2310-10	20307760	150421548	47600882	23	1227											
SI	6476	bcgsc.ca	37	chr3	164776870	164776870	+	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	acctatggaaattgcagggtCctaataatagaaagcagaaa	18	8	9	6	0	0	2	0	0	0	2	1	3	1	3	2	2	2	2	2	2	7	5			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:164776870C>A	ENST00000264382.3	-	12	1341	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	427	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)	ATTGCAGGGTCCTAATAATAG	0.358										HNSCC(35;0.089)																												.											0													81	72	75					3																	164776870		2203	4299	6502	SO:0001630	splice_region_variant	6476			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.1279-1G>T	3.37:g.164776870C>A			A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920302	0.73098	.	.	ENSG00000090402	ENST00000264382	D	0.92752	-3.1	5.57	5.57	0.84162	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99709	1.1006	10	0.87932	D	0	.	18.5358	0.91010	0.0:1.0:0.0:0.0	.	427	P14410	SUIS_HUMAN	Y	427	ENSP00000264382:D427Y	ENSP00000264382:D427Y	D	-	1	0	SI	166259564	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	5.184000	0.65070	2.612000	0.88384	0.650000	0.86243	GAC		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation	A	164776870	C	A	164776870	5	1	17	1	0	0	0	0	0	0	1	0	14297	869	30	5	4352	5	SI	3	164776870	Splice_Site	SNP	C	TCGA-KL-8339-01A-11D-2310-10	14355322	164776870	33245560	24	1228											
HTRA3	94031	mdanderson.org	37	chr4	8294059	8294059	+	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	cccttgcagtacgggaactcCgggggaccactggtgaacct	8	7	13	13	2	0	1	0	1	0	0	1	3	1	3	4	4	4	2	4	4	3	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:8294059C>T	ENST00000307358.2	+	5	1119	c.915C>T	c.(913-915)tcC>tcT	p.S305S	HTRA3_ENST00000382512.3_Silent_p.S305S	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	305	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ACGGGAACTCCGGGGGACCAC	0.582																																						.											0													99	86	90					4																	8294059		2203	4300	6503	SO:0001819	synonymous_variant	94031			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.915C>T	4.37:g.8294059C>T			Q7Z7A2	Silent	SNP	ENST00000307358.2	37	CCDS3400.1																																																																																				0.582	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		T	8294059	C	T	8294059	2	4	17	1	0	0	0	0	0	0	0	1	7455	639	23	1		1	HTRA3	4	8294059	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10		8294059	182860217	25	1229											
KCTD8	386617	broad.mit.edu	37	chr4	44177044	44177044	+	Frame_Shift_Del	DEL	T	T	-																															ggtatccattgtacaggtgcTtttttagaggggcgatccaa																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:44177044delT	ENST00000360029.3	-	2	1468	c.1185delA	c.(1183-1185)aaafs	p.K395fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	395					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						GTACAGGTGCTTTTTTAGAGG	0.502										HNSCC(17;0.042)																												.											0													173	176	175					4																	44177044		2203	4300	6503	SO:0001589	frameshift_variant	386617			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.1185delA	4.37:g.44177044delT	ENSP00000353129:p.Lys395fs		A2RU39	Frame_Shift_Del	DEL	ENST00000360029.3	37	CCDS3467.1																																																																																				0.502	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			-	44177044	T	-	44177044	7	5	17	1	0	1	0	1	0	0	0	0	8115	1606	56	0	240	0	KCTD8	4	44177044	Frame_Shift_Del	DEL	T	TCGA-KL-8339-01A-11D-2310-10	35882985	44177044	146977232	26	1230											
KCTD8	386617	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	44177218	44177218	+	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	ttatcagtgactttgtcatgTttcctatcttcatgttcttg	6	21	6	8	0	5	1	3	1	2	0	6	1	6	1	1	0	0	2	1	0	2	7			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:44177218T>G	ENST00000360029.3	-	2	1294	c.1011A>C	c.(1009-1011)aaA>aaC	p.K337N		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	337					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						CTTTGTCATGTTTCCTATCTT	0.408										HNSCC(17;0.042)																												.											0													119	112	115					4																	44177218		2203	4300	6503	SO:0001583	missense	386617			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.1011A>C	4.37:g.44177218T>G	ENSP00000353129:p.Lys337Asn		A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.27|15.27	2.783160|2.783160	0.49891|0.49891	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000360029|ENST00000515268	T|.	0.39997|.	1.05|.	4.65|4.65	1.02|1.02	0.19986|0.19986	.|.	0.000000|.	0.51477|.	D|.	0.000081|.	T|T	0.31482|0.31482	0.0798|0.0798	N|N	0.19112|0.19112	0.55|0.55	0.32695|0.32695	N|N	0.513629|0.513629	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.39840|0.39840	-0.9594|-0.9594	10|5	0.66056|.	D|.	0.02|.	.|.	7.0943|7.0943	0.25301|0.25301	0.0:0.3611:0.0:0.6389|0.0:0.3611:0.0:0.6389	.|.	337|.	Q6ZWB6|.	KCTD8_HUMAN|.	N|T	337|73	ENSP00000353129:K337N|.	ENSP00000353129:K337N|.	K|N	-|-	3|2	2|0	KCTD8|KCTD8	43871975|43871975	0.996000|0.996000	0.38824|0.38824	0.917000|0.917000	0.36280|0.36280	0.937000|0.937000	0.57800|0.57800	0.277000|0.277000	0.18734|0.18734	0.388000|0.388000	0.25054|0.25054	0.477000|0.477000	0.44152|0.44152	AAA|AAC		0.408	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			G	44177218	T	G	44177218	3	3	17	1	0	0	0	0	1	0	0	0	8115	1722	60	5	414	5	KCTD8	4	44177218	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10	174	44177218	146977058	27	1231											
CLOCK	9575	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	56319289	56319289	+	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	tcgtctttcagccctaacttCtgcataactacaaatggaaa	13	12	5	11	1	3	0	1	0	2	0	4	1	3	1	1	1	5	1	1	1	5	5	rs1056478		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:56319289C>A	ENST00000309964.4	-	14	1388	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.E380*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.E380*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	380	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.		E -> K (in dbSNP:rs1056478).		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)			GCCCTAACTTCTGCATAACTA	0.338																																						.											0													78	75	76					4																	56319289		2203	4300	6503	SO:0001587	stop_gained	9575			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.1138G>T	4.37:g.56319289C>A	ENSP00000308741:p.Glu380*		A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	C	43	10.219861	0.99362	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.423	0.94729	0.0:1.0:0.0:0.0	.	.	.	.	X	380	.	ENSP00000308741:E380X	E	-	1	0	CLOCK	56014046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.653000	0.67967	2.680000	0.91292	0.650000	0.86243	GAA		0.338	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		A	56319289	C	A	56319289	4	1	17	1	0	0	0	0	0	1	0	0	3549	922	32	5	1438	5	CLOCK	4	56319289	Nonsense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	12142071	56319289	134834987	28	1232											
FSTL5	56884	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	162697068	162697068	+	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	atctacaagtccattactgtCtgcatcaaaatatttaaaca	16	13	3	9	0	3	0	1	0	2	0	4	0	4	0	1	0	4	1	1	0	8	5			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:162697068C>T	ENST00000306100.5	-	5	1004	c.568G>A	c.(568-570)Gac>Aac	p.D190N	FSTL5_ENST00000379164.4_Missense_Mutation_p.D189N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D189N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D189N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	190	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCATTACTGTCTGCATCAAAA	0.289																																						.											0													89	93	91					4																	162697068		2203	4294	6497	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.568G>A	4.37:g.162697068C>T	ENSP00000305334:p.Asp190Asn		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425985	0.43020	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.3	5.3	0.74995	EF-hand-like domain (1);	0.050469	0.85682	D	0.000000	T	0.22975	0.0555	L	0.56124	1.755	0.58432	D	0.999999	B;B;B	0.25390	0.125;0.11;0.125	B;B;B	0.27262	0.028;0.078;0.056	T	0.06445	-1.0826	10	0.10111	T	0.7	.	18.3021	0.90167	0.0:1.0:0.0:0.0	.	189;189;190	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	190;189;189;189	ENSP00000305334:D190N;ENSP00000368462:D189N;ENSP00000389270:D189N;ENSP00000440409:D189N	ENSP00000305334:D190N	D	-	1	0	FSTL5	162916518	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.313000	0.51935	2.625000	0.88918	0.650000	0.86243	GAC		0.289	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		T	162697068	C	T	162697068	3	4	17	1	0	0	0	0	1	0	0	0	6080	913	32	4	2023	4	FSTL5	4	162697068	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	106377779	162697068	28457208	29	1233											
SDHA	6389	mdanderson.org	37	chr5	236642	236642	+	Missense_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	atggtgccaaccgcctcgggGcaaactcgctcttggacctg	7	8	12	14	3	1	0	0	0	1	0	3	1	1	1	4	4	3	2	4	4	2	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:236642G>A	ENST00000264932.6	+	10	1475	c.1360G>A	c.(1360-1362)Gca>Aca	p.A454T	SDHA_ENST00000504309.1_Missense_Mutation_p.A454T|SDHA_ENST00000510361.1_Missense_Mutation_p.A406T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	454					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)	CCGCCTCGGGGCAAACTCGCT	0.602									Familial Paragangliomas																													.											0													89	80	83					5																	236642		2203	4300	6503	SO:0001583	missense	6389	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	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.1360G>A	5.37:g.236642G>A	ENSP00000264932:p.Ala454Thr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	17.49	3.402253	0.62288	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70749	-0.51;-0.51;-0.51	5.01	5.01	0.66863	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136629	0.48767	U	0.000166	T	0.76681	0.4021	L	0.43598	1.365	0.80722	D	1	D;B;D;D;P	0.89917	0.998;0.361;1.0;1.0;0.762	D;B;D;D;P	0.97110	0.992;0.368;1.0;0.982;0.495	T	0.77032	-0.2738	10	0.56958	D	0.05	.	9.7585	0.40517	0.0953:0.0:0.9047:0.0	.	406;454;48;454;454	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	T	454;309;454;406	ENSP00000264932:A454T;ENSP00000426514:A454T;ENSP00000427703:A406T	ENSP00000264932:A454T	A	+	1	0	SDHA	289642	1.000000	0.71417	0.995000	0.50966	0.042000	0.13812	9.454000	0.97621	2.483000	0.83821	0.650000	0.86243	GCA		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	236642	G	A	236642	3	1	17	1	0	0	0	0	1	0	0	0	13963	1203	42	3	1398	3	SDHA	5	236642	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		236642	180678618	30	1234											
CMYA5	202333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	79039710	79039710	+	Missense_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	ccttgaggattgaagcctttGttagtgagatagaatccttt	10	15	10	6	0	0	4	0	3	0	2	1	6	1	5	3	1	1	1	3	1	4	6			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:79039710G>A	ENST00000446378.2	+	3	10730	c.10699G>A	c.(10699-10701)Gtt>Att	p.V3567I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3567	B-box coiled-coil; BBC.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAAGCCTTTGTTAGTGAGAT	0.318																																						.											0													88	80	83					5																	79039710		1801	4060	5861	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10699G>A	5.37:g.79039710G>A	ENSP00000394770:p.Val3567Ile		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519669	0.85495	.	.	ENSG00000164309	ENST00000446378	T	0.27256	1.68	5.58	5.58	0.84498	.	0.000000	0.42294	D	0.000733	T	0.45256	0.1333	L	0.39397	1.21	0.45607	D	0.998549	D	0.76494	0.999	D	0.78314	0.991	T	0.28713	-1.0035	10	0.56958	D	0.05	.	19.5743	0.95436	0.0:0.0:1.0:0.0	.	3567	Q8N3K9	CMYA5_HUMAN	I	3567	ENSP00000394770:V3567I	ENSP00000394770:V3567I	V	+	1	0	CMYA5	79075466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.746000	0.74866	2.611000	0.88343	0.655000	0.94253	GTT		0.318	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79039710	G	A	79039710	3	1	17	1	0	0	0	0	1	0	0	0	3590	1377	48	4	10709	4	CMYA5	5	79039710	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	78803068	79039710	101875550	31	1235											
LOX	4015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	121413160	121413160	+	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	tgtcgtcagagtacttgtagGggttgtaagggtcgtcgccc	6	12	15	8	3	1	1	1	0	0	1	4	1	1	1	1	3	1	4	1	3	3	5	rs369582946		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:121413160G>A	ENST00000231004.4	-	1	820	c.521C>T	c.(520-522)cCc>cTc	p.P174L	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	174					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)		GTACTTGTAGGGGTTGTAAGG	0.612																																						.											0													63	73	70					5																	121413160		2203	4300	6503	SO:0001583	missense	4015				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.521C>T	5.37:g.121413160G>A	ENSP00000231004:p.Pro174Leu		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254976	0.80135	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.31247	1.5	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	M	0.65498	2.005	0.80722	D	1	D	0.54047	0.964	P	0.50860	0.652	T	0.53143	-0.8480	10	0.87932	D	0	.	16.6221	0.84933	0.0:0.0:1.0:0.0	.	174	P28300	LYOX_HUMAN	L	174;134	ENSP00000231004:P174L	ENSP00000231004:P174L	P	-	2	0	LOX	121441059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.810000	0.91950	1.993000	0.58246	0.305000	0.20034	CCC		0.612	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			A	121413160	G	A	121413160	3	1	17	1	0	0	0	0	1	0	0	0	8898	1232	43	3	760	3	LOX	5	121413160	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	42373450	121413160	59502100	32	1236											
FSTL4	23105	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	132534972	132534972	+	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	ccagggctgagctggccctgCgggtggctcctttaagttct	4	11	14	12	1	1	1	0	1	1	0	2	1	2	1	3	4	2	4	3	4	1	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:132534972C>A	ENST00000265342.7	-	16	2593	c.2344G>T	c.(2344-2346)Gca>Tca	p.A782S	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	782						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGCCCTGCGGGTGGCTCC	0.602																																						.											0													43	43	43					5																	132534972		2203	4300	6503	SO:0001583	missense	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2344G>T	5.37:g.132534972C>A	ENSP00000265342:p.Ala782Ser		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	T	3.228	-0.158117	0.06544	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.25579	1.79	4.9	-9.79	0.00494	.	1.566590	0.03671	N	0.243995	T	0.15435	0.0372	L	0.42245	1.32	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.11329	0.006;0.004	T	0.15578	-1.0432	10	0.09590	T	0.72	2.0844	6.6114	0.22753	0.1669:0.5332:0.0789:0.2209	.	782;431	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	S	782;613	ENSP00000265342:A782S	ENSP00000265342:A782S	A	-	1	0	FSTL4	132562871	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.725000	0.01863	-2.178000	0.00768	-0.352000	0.07741	GCA		0.602	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		A	132534972	C	A	132534972	3	1	17	1	0	0	0	0	1	0	0	0	6079	768	27	5	188	5	FSTL4	5	132534972	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	11121812	132534972	48380288	33	1237											
NEUROG1	4762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	134871070	134871070	+	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	ccgcgttcaagttgtgcatgCggttgcgctcgcgatcgttg	4	12	14	11	7	1	0	1	0	0	0	3	1	1	0	1	1	3	6	1	1	1	4			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:134871070C>A	ENST00000314744.4	-	1	569	c.311G>T	c.(310-312)cGc>cTc	p.R104L		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)			GTTGTGCATGCGGTTGCGCTC	0.711																																						.											0													37	38	38					5																	134871070		2203	4299	6502	SO:0001583	missense	4762			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.311G>T	5.37:g.134871070C>A	ENSP00000317580:p.Arg104Leu		Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	37	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.818538	0.90790	.	.	ENSG00000181965	ENST00000314744	D	0.99709	-6.48	4.74	4.74	0.60224	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96174	0.9125	10	0.87932	D	0	-2.6733	17.7034	0.88302	0.0:1.0:0.0:0.0	.	104	Q92886	NGN1_HUMAN	L	104	ENSP00000317580:R104L	ENSP00000317580:R104L	R	-	2	0	NEUROG1	134898969	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.696000	0.84270	2.166000	0.68216	0.651000	0.88453	CGC		0.711	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	NM_006161		A	134871070	C	A	134871070	3	1	17	1	0	0	0	0	1	0	0	0	10352	768	27	5	406	5	NEUROG1	5	134871070	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	2336098	134871070	46044190	34	1238											
DIAPH1	1729	broad.mit.edu	37	chr5	140907261	140907261	+	Frame_Shift_Del	DEL	G	G	-																															tcttttgcaagttttcagcaGaaactaaaaaaaaaaaaaaa																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:140907261delG	ENST00000398557.4	-	24	3292	c.3152delC	c.(3151-3153)tctfs	p.S1051fs	DIAPH1_ENST00000518047.1_Frame_Shift_Del_p.S1039fs|DIAPH1_ENST00000253811.6_Frame_Shift_Del_p.S1052fs|DIAPH1_ENST00000398566.3_Frame_Shift_Del_p.S1043fs|DIAPH1_ENST00000389057.5_Frame_Shift_Del_p.S1042fs|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000520569.1_Frame_Shift_Del_p.S994fs|DIAPH1_ENST00000389054.3_Frame_Shift_Del_p.S1048fs|DIAPH1_ENST00000398562.2_Frame_Shift_Del_p.S1027fs	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1051	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCAGCAGAAACTaaaaa	0.358																																						.											0													46	41	42					5																	140907261		1799	4064	5863	SO:0001589	frameshift_variant	1729			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.3152delC	5.37:g.140907261delG	ENSP00000381565:p.Ser1051fs		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Frame_Shift_Del	DEL	ENST00000398557.4	37	CCDS43374.1																																																																																				0.358	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		-	140907261	G	-	140907261	7	5	17	1	0	1	0	1	0	0	0	0	4518	942	33	0	686	0	DIAPH1	5	140907261	Frame_Shift_Del	DEL	G	TCGA-KL-8339-01A-11D-2310-10	6036191	140907261	40007999	35	1239											
NR3C1	2908	mdanderson.org	37	chr5	142779662	142779662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttagtgtccggtaaaatgAgaggcttgcagtcctcattc	9	13	11	8	1	1	1	1	1	0	1	4	2	3	1	2	2	1	4	2	2	3	5			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:142779662A>G	ENST00000343796.2	-	2	1736	c.743T>C	c.(742-744)cTc>cCc	p.L248P	NR3C1_ENST00000503201.1_Missense_Mutation_p.L248P|NR3C1_ENST00000415690.2_Missense_Mutation_p.L248P|NR3C1_ENST00000394464.2_Missense_Mutation_p.L248P|NR3C1_ENST00000231509.3_Missense_Mutation_p.L248P|NR3C1_ENST00000424646.2_Missense_Mutation_p.L248P|NR3C1_ENST00000504572.1_Missense_Mutation_p.L248P|NR3C1_ENST00000394466.2_Missense_Mutation_p.L248P|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)	248	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)	CGGTAAAATGAGAGGCTTGCA	0.423																																						.											0													115	120	118					5																	142779662		2203	4300	6503	SO:0001583	missense	2908			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.743T>C	5.37:g.142779662A>G	ENSP00000343205:p.Leu248Pro		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326693	0.24080	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.46	4.3	0.51218	.	0.422460	0.26086	N	0.026425	T	0.34193	0.0889	L	0.49455	1.56	0.80722	D	1	B;P;B	0.48589	0.001;0.912;0.002	B;P;B	0.50231	0.01;0.635;0.017	T	0.04454	-1.0950	10	0.34782	T	0.22	.	7.6771	0.28492	0.7903:0.0:0.2097:0.0	.	248;248;248	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	P	248	ENSP00000377977:L248P;ENSP00000343205:L248P;ENSP00000387672:L248P;ENSP00000405282:L248P;ENSP00000422518:L248P;ENSP00000377979:L248P;ENSP00000231509:L248P;ENSP00000427672:L248P	ENSP00000231509:L248P	L	-	2	0	NR3C1	142759855	0.948000	0.32251	0.887000	0.34795	0.995000	0.86356	1.994000	0.40757	0.898000	0.36418	0.528000	0.53228	CTC		0.423	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			G	142779662	A	G	142779662	3	3	17	1	0	0	0	0	1	0	0	0	10630	304	11	2	1677	2	NR3C1	5	142779662	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	1872401	142779662	38135598	36	1240											
TCERG1	10915	mdanderson.org	37	chr5	145838659	145838659	+	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	gcccaggcccaggcccaggcCcaggcccaggcccaagccca	8	0	12	21	0	0	0	0	0	0	0	0	0	0	0	7	5	1	0	7	5	1	0	rs111965890		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:145838659C>T	ENST00000296702.5	+	4	689	c.651C>T	c.(649-651)gcC>gcT	p.A217A	TCERG1_ENST00000394421.2_Silent_p.A217A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	217	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)			aggcccaggcccaggcccagg	0.731																																						.											0													10	14	13					5																	145838659		2185	4266	6451	SO:0001819	synonymous_variant	10915			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.651C>T	5.37:g.145838659C>T			Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.731	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		T	145838659	C	T	145838659	2	4	17	1	0	0	0	0	0	0	0	1	15682	610	22	3		3	TCERG1	5	145838659	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	3058997	145838659	35076601	37	1241											
HIST1H2BO	8348	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr6	27861260	27861260	+	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	catgcccgacccggctaaatCtgctcctgcccccaaaaagg	10	6	8	17	2	1	0	0	0	1	0	2	1	2	0	5	2	3	2	5	2	4	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr6:27861260C>G	ENST00000303806.4	+	1	58	c.20C>G	c.(19-21)tCt>tGt	p.S7C	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	7					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCGGCTAAATCTGCTCCTGCC	0.498																																						.											0													51	55	54					6																	27861260		2203	4300	6503	SO:0001583	missense	8348			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.20C>G	6.37:g.27861260C>G	ENSP00000303408:p.Ser7Cys		Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279650	0.59758	.	.	ENSG00000196331	ENST00000303806	T	0.19105	2.17	3.7	3.7	0.42460	Histone-fold (2);	.	.	.	.	T	0.25344	0.0616	M	0.85859	2.78	0.35931	D	0.832534	D	0.54047	0.964	P	0.45610	0.487	T	0.40979	-0.9534	9	0.87932	D	0	.	15.2409	0.73468	0.0:1.0:0.0:0.0	.	7	P23527	H2B1O_HUMAN	C	7	ENSP00000303408:S7C	ENSP00000303408:S7C	S	+	2	0	HIST1H2BO	27969239	0.988000	0.35896	0.544000	0.28141	0.045000	0.14185	3.909000	0.56363	2.356000	0.79943	0.561000	0.74099	TCT		0.498	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		G	27861260	C	G	27861260	3	3	17	1	0	0	0	0	1	0	0	0	7154	913	32	5	22	5	HIST1H2BO	6	27861260	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		27861260	143253807	38	1242											
FAM46A	55603	ucsc.edu	37	chr6	82461832	82461832	+	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	gccagctcgtcctcagacatGgcgaagtacccttcaccctc	8	8	8	17	2	2	1	2	0	0	1	5	2	3	1	4	1	2	2	4	1	2	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr6:82461832G>A	ENST00000320172.6	-	2	341	c.27C>T	c.(25-27)gcC>gcT	p.A9A	FAM46A_ENST00000369756.3_Silent_p.A90A|FAM46A_ENST00000369754.3_Silent_p.A28A	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	9					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)		CCTCAGACATGGCGAAGTACC	0.677																																						.											0													4	5	4					6																	82461832		1640	3652	5292	SO:0001819	synonymous_variant	55603			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.27C>T	6.37:g.82461832G>A			A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	CCDS34489.1																																																																																				0.677	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			A	82461832	G	A	82461832	2	1	17	1	0	0	0	0	0	0	0	1	5565	1335	47	4		4	FAM46A	6	82461832	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	54600572	82461832	88653235	39	1243											
C6orf192	116843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	133105219	133105219	+	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	ccccagtccagaaaaagtctCaagacttcccttaaaatgag	15	8	6	12	0	1	3	1	1	1	2	4	3	3	3	4	0	0	0	4	0	5	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr6:133105219C>G	ENST00000275227.4	-	6	607	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Missense_Mutation_p.E45Q	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	171					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											GAAAAAGTCTCAAGACTTCCC	0.333																																						.											0													70	75	73					6																	133105219		2203	4300	6503	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.511G>C	6.37:g.133105219C>G	ENSP00000275227:p.Glu171Gln		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982690	0.74474	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.57595	0.39;0.39	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.65664	-0.6113	10	0.12766	T	0.61	-13.6973	19.0578	0.93072	0.0:1.0:0.0:0.0	.	45;171	B7Z1S5;Q6NT16	.;CF192_HUMAN	Q	171;45	ENSP00000275227:E171Q;ENSP00000444098:E45Q	ENSP00000275227:E171Q	E	-	1	0	C6orf192	133146912	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	7.188000	0.77739	2.588000	0.87417	0.655000	0.94253	GAG		0.333	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		G	133105219	C	G	133105219	3	3	17	1	0	0	0	0	1	0	0	0	2349	835	29	5	895	5	C6orf192	6	133105219	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	50643387	133105219	38009848	40	1244											
WBSCR17	64409	broad.mit.edu	37	chr7	70880909	70880909	+	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	cccctagaggagtatgtccaCaaacgctaccccgggctggt	9	7	11	14	2	0	1	0	0	0	1	1	2	1	2	5	3	2	3	5	3	4	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:70880909C>A	ENST00000333538.5	+	4	1258	c.624C>A	c.(622-624)caC>caA	p.H208Q	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	208	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			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)				AGTATGTCCACAAACGCTACC	0.512																																						.											0													72	67	68					7																	70880909		2203	4300	6503	SO:0001583	missense	64409			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.624C>A	7.37:g.70880909C>A	ENSP00000329654:p.His208Gln		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.597224	0.46318	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.60040	0.22;2.03	5.17	2.99	0.34606	Glycosyl transferase, family 2 (1);	0.161582	0.53938	N	0.000060	T	0.25754	0.0627	N	0.01522	-0.82	0.39451	D	0.967404	B	0.18310	0.027	B	0.22152	0.038	T	0.08166	-1.0735	10	0.12766	T	0.61	.	9.7602	0.40528	0.0:0.7346:0.1376:0.1277	.	208	Q6IS24	GLTL3_HUMAN	Q	208;186	ENSP00000329654:H208Q;ENSP00000392019:H186Q	ENSP00000329654:H208Q	H	+	3	2	WBSCR17	70518845	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.171000	0.31896	1.170000	0.42753	0.563000	0.77884	CAC		0.512	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		A	70880909	C	A	70880909	3	1	17	1	0	0	0	0	1	0	0	0	17261	477	17	5	638	5	WBSCR17	7	70880909	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		70880909	88257754	41	1245											
GNB2	2783	mdanderson.org	37	chr7	100276355	100276355	+	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	gacaaccgcgtgagctgcctCggggtcaccgacgatggcat	8	6	14	13	5	1	1	1	1	0	0	2	4	1	1	3	3	3	2	3	3	1	0	rs17850902	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:100276355C>T	ENST00000303210.4	+	10	1436	c.954C>T	c.(952-954)ctC>ctT	p.L318L	GNB2_ENST00000419828.1_Silent_p.L218L|GNB2_ENST00000393926.1_Silent_p.L318L|GNB2_ENST00000436220.1_Silent_p.L274L|GNB2_ENST00000393924.1_Silent_p.L318L|GNB2_ENST00000424361.1_Silent_p.L274L|GNB2_ENST00000427895.1_Silent_p.L218L	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	318					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TGAGCTGCCTCGGGGTCACCG	0.652													C|||	17	0.00339457	8e-04	0.0029	5008	,	,		16180	0.001		0.005	False		,,,				2504	0.0082					.											0								C		7,4399		0,7,2196	60	63	62		954	-6	0.9	7	dbSNP_123	62	76,8524		0,76,4224	no	coding-synonymous	GNB2	NM_005273.3		0,83,6420	TT,TC,CC		0.8837,0.1589,0.6382		318/341	100276355	83,12923	2203	4300	6503	SO:0001819	synonymous_variant	2783			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.954C>T	7.37:g.100276355C>T			B3KPU1|P11016|P54312	Silent	SNP	ENST00000303210.4	37	CCDS5703.1																																																																																				0.652	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		T	100276355	C	T	100276355	2	4	17	1	0	0	0	0	0	0	0	1	6517	871	31	1		1	GNB2	7	100276355	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	29395446	100276355	58862308	42	1246											
ASB15	142685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	123254584	123254584	+	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	ctaatgatgaccctgatgaaGaccatcttacaagttatgat	14	12	7	8	0	1	6	0	5	1	1	1	6	1	6	2	0	1	1	2	0	5	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:123254584G>C	ENST00000451558.1	+	6	549	c.28G>C	c.(28-30)Gac>Cac	p.D10H	ASB15_ENST00000540573.1_Missense_Mutation_p.D10H|ASB15_ENST00000451215.1_Missense_Mutation_p.D10H|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.D10H|ASB15_ENST00000275699.3_Missense_Mutation_p.D10H			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	10					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCCTGATGAAGACCATCTTAC	0.358																																						.											0													207	209	209					7																	123254584		2203	4300	6503	SO:0001583	missense	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.28G>C	7.37:g.123254584G>C	ENSP00000397655:p.Asp10His		Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659785	0.88154	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	T;T;T;T;T;T;T	0.73789	-0.71;-0.71;0.18;-0.71;-0.71;-0.78;-0.71	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000002	D	0.85448	0.5699	M	0.65498	2.005	0.58432	D	0.999999	D	0.76494	0.999	D	0.68039	0.955	D	0.84706	0.0731	10	0.56958	D	0.05	-26.6264	20.1899	0.98228	0.0:0.0:1.0:0.0	.	10	Q8WXK1	ASB15_HUMAN	H	10	ENSP00000397655:D10H;ENSP00000390963:D10H;ENSP00000406163:D10H;ENSP00000416433:D10H;ENSP00000438643:D10H;ENSP00000401166:D10H;ENSP00000275699:D10H	ENSP00000275699:D10H	D	+	1	0	ASB15	123041820	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.723000	0.84788	2.873000	0.98535	0.563000	0.77884	GAC		0.358	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			C	123254584	G	C	123254584	3	2	17	1	0	0	0	0	1	0	0	0	1019	942	33	5	30	5	ASB15	7	123254584	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	22978229	123254584	35884079	43	1247											
ARHGEF5	7984	broad.mit.edu	37	chr7	144062428	144062428	+	Frame_Shift_Del	DEL	T	T	-																															tcaagactggacagtcccccTccctgcctctgctggacgca																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:144062428delT	ENST00000056217.5	+	2	2840	c.2666delT	c.(2665-2667)ctcfs	p.L889fs	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	889					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)	p.L889P(1)		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)					ACAGTCCCCCTCCCTGCCTCT	0.597																																						.											1	Substitution - Missense(1)	large_intestine(1)											12	14	13					7																	144062428		2011	4057	6068	SO:0001589	frameshift_variant	7984			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.2666delT	7.37:g.144062428delT	ENSP00000056217:p.Leu889fs		A6NNJ2|Q6ZML7	Frame_Shift_Del	DEL	ENST00000056217.5	37	CCDS34771.1																																																																																				0.597	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		-	144062428	T	-	144062428	7	5	17	1	0	1	0	1	0	0	0	0	909	1551	54	0	2668	0	ARHGEF5	7	144062428	Frame_Shift_Del	DEL	T	TCGA-KL-8339-01A-11D-2310-10	20807844	144062428	15076235	44	1248											
MTMR9	66036	broad.mit.edu	37	chr8	11162509	11162509	+	Frame_Shift_Del	DEL	A	A	-																															cagtactaagctattaccacAaaaaaaatgggatggtaagt																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:11162509delA	ENST00000221086.3	+	4	1050	c.577delA	c.(577-579)aaafs	p.K194fs	MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	194	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.			K -> R (in Ref. 2; BAA91170). {ECO:0000305}.		cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTATTACCACAAAAAAAATGG	0.453																																						.											0													97	82	87					8																	11162509		2203	4300	6503	SO:0001589	frameshift_variant	66036			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.577delA	8.37:g.11162509delA	ENSP00000221086:p.Lys194fs		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Del	DEL	ENST00000221086.3	37	CCDS5979.1																																																																																				0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		-	11162509	A	-	11162509	7	5	17	1	0	1	0	1	0	0	0	0	9950	131	5	0	591	0	MTMR9	8	11162509	Frame_Shift_Del	DEL	A	TCGA-KL-8339-01A-11D-2310-10		11162509	135201513	45	1249											
CPNE3	8895	broad.mit.edu	37	chr8	87558847	87558847	+	Frame_Shift_Del	DEL	A	A	-																															aatttgaatgcataaatgagAaaaaaaggcaaaagaaaaaa																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:87558847delA	ENST00000521271.1	+	10	919	c.757delA	c.(757-759)aaafs	p.K254fs	CPNE3_ENST00000198765.4_Frame_Shift_Del_p.K254fs	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	254					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CATAAATGAGAAAAAAAGGCA	0.308																																						.											0													90	104	99					8																	87558847		2203	4300	6503	SO:0001589	frameshift_variant	8895			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.757delA	8.37:g.87558847delA	ENSP00000430934:p.Lys254fs		A8KA47|Q8IYA1	Frame_Shift_Del	DEL	ENST00000521271.1	37	CCDS6243.1																																																																																				0.308	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			-	87558847	A	-	87558847	7	5	17	1	0	1	0	1	0	0	0	0	3813	247	9	0	787	0	CPNE3	8	87558847	Frame_Shift_Del	DEL	A	TCGA-KL-8339-01A-11D-2310-10	76396338	87558847	58805175	46	1250											
KCNQ3	3786	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	133141626	133141626	+	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	tctgtgtccgtctcaccctcGgcgaggtaccgcttctccct	3	12	9	17	4	3	0	1	0	3	0	7	1	4	0	4	2	1	2	4	2	1	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:133141626G>A	ENST00000388996.4	-	15	2922	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	KCNQ3_ENST00000519445.1_Silent_p.A822A|KCNQ3_ENST00000521134.1_Silent_p.A714A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	834					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTCACCCTCGGCGAGGTACC	0.592																																						.											0													77	67	70					8																	133141626		2203	4300	6503	SO:0001819	synonymous_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2502C>T	8.37:g.133141626G>A			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		A	133141626	G	A	133141626	2	1	17	1	0	0	0	0	0	0	0	1	8084	1103	39	1		1	KCNQ3	8	133141626	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	45582779	133141626	13222396	47	1251											
PHF20L1	51105	broad.mit.edu;mdanderson.org	37	chr8	133851655	133851655	+	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	agaggtggagtgcaaaatatCgttatgataaggagtggttg	13	11	15	2	1	0	2	0	1	0	1	1	4	0	4	0	4	1	3	0	4	5	4	rs371605549		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:133851655C>T	ENST00000395386.2	+	18	2514	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R714C|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R126C|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	739							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)			TGCAAAATATCGTTATGATAA	0.368																																						.											0								C	CYS/ARG	0,3774		0,0,1887	135	129	131		2215	5.4	0.9	8		131	1,8249		0,1,4124	no	missense	PHF20L1	NM_016018.4	180	0,1,6011	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	739/1018	133851655	1,12023	1887	4125	6012	SO:0001583	missense	51105			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.2215C>T	8.37:g.133851655C>T	ENSP00000378784:p.Arg739Cys		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624173	0.66901	0.0	1.21E-4	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.32023	1.47;1.47	5.41	5.41	0.78517	Zinc finger, FYVE/PHD-type (1);	0.405112	0.24003	U	0.042449	T	0.42268	0.1195	L	0.54323	1.7	0.58432	D	0.999992	D;D	0.64830	0.994;0.99	P;B	0.50049	0.629;0.425	T	0.35176	-0.9799	10	0.66056	D	0.02	-30.1161	18.1918	0.89809	0.0:1.0:0.0:0.0	.	714;739	F8W9L8;A8MW92	.;P20L1_HUMAN	C	739;126;714	ENSP00000378784:R739C;ENSP00000378788:R714C	ENSP00000220847:R126C	R	+	1	0	PHF20L1	133920837	1.000000	0.71417	0.945000	0.38365	0.976000	0.68499	4.465000	0.60141	2.552000	0.86080	0.655000	0.94253	CGT		0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		T	133851655	C	T	133851655	3	4	17	1	0	0	0	0	1	0	0	0	11832	884	31	1	2377	1	PHF20L1	8	133851655	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	710029	133851655	12512367	48	1252											
COL22A1	169044	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	139674282	139674282	+	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	tctgtacttacgtcccggccGgctgggccctgggggccagg	3	8	16	14	3	1	0	0	0	1	0	2	0	2	0	4	6	2	2	4	6	2	2	rs368271751		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:139674282G>A	ENST00000303045.6	-	43	3677	c.3231C>T	c.(3229-3231)gcC>gcT	p.A1077A	COL22A1_ENST00000435777.1_Silent_p.A1057A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1077	Collagen-like 9.|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)			CGTCCCGGCCGGCTGGGCCCT	0.542										HNSCC(7;0.00092)																												.											0								G		0,4406		0,0,2203	106	95	99		3231	-2.6	1	8		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1077/1627	139674282	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169044			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.3231C>T	8.37:g.139674282G>A			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.542	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139674282	G	A	139674282	2	1	17	1	0	0	0	0	0	0	0	1	3681	1103	39	1		1	COL22A1	8	139674282	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	5822627	139674282	6689740	49	1253											
GNA14	9630	broad.mit.edu	37	chr9	80049325	80049325	+	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	tggtactccctcctcctgtcGtaacactcctggatgcctgg	5	12	9	15	1	0	0	0	0	0	0	5	1	4	1	5	3	3	2	5	3	2	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:80049325G>A	ENST00000341700.6	-	3	936	c.423C>T	c.(421-423)taC>taT	p.Y141Y	GNA14_ENST00000464095.1_5'Flank	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	141					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCTCCTGTCGTAACACTCCT	0.582											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													120	93	102					9																	80049325		2203	4300	6503	SO:0001819	synonymous_variant	9630			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.423C>T	9.37:g.80049325G>A		1195	B1ALW3	Silent	SNP	ENST00000341700.6	37	CCDS6657.1																																																																																				0.582	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			A	80049325	G	A	80049325	2	1	17	1	0	0	0	0	0	0	0	1	6502	1140	40	1		1	GNA14	9	80049325	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10		80049325	61164106	50	1254											
HEMGN	55363	broad.mit.edu;mdanderson.org	37	chr9	100693400	100693400	+	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	tttctccactatttccttttCtatctgtggctgaggctcca	5	18	6	12	0	3	1	0	1	3	0	6	1	5	1	3	2	0	2	3	2	2	6			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:100693400C>T	ENST00000259456.3	-	4	420	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	93					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATTTCCTTTTCTATCTGTGGC	0.443																																						.											0													154	146	149					9																	100693400		2203	4300	6503	SO:0001583	missense	55363			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.277G>A	9.37:g.100693400C>T	ENSP00000259456:p.Glu93Lys		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.248041	0.22880	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.84	1.5	0.22942	.	0.604415	0.17410	N	0.175222	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.26602	0.154	B	0.23716	0.048	T	0.15263	-1.0443	9	0.26408	T	0.33	-4.9581	5.7006	0.17881	0.0:0.5751:0.0:0.4249	.	93	Q9BXL5	HEMGN_HUMAN	K	93	.	ENSP00000259456:E93K	E	-	1	0	HEMGN	99733221	0.855000	0.29742	0.267000	0.24556	0.773000	0.43773	0.103000	0.15292	0.533000	0.28675	0.591000	0.81541	GAA		0.443	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		T	100693400	C	T	100693400	3	4	17	1	0	0	0	0	1	0	0	0	7050	922	32	4	1185	4	HEMGN	9	100693400	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	20644075	100693400	40520031	51	1255											
FUBP3	8939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	133507382	133507382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacatggctgccaaggtgaAtgggaacccccacagcaccc	13	4	10	14	0	0	1	0	1	0	0	0	2	0	2	4	3	4	2	4	3	4	0			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:133507382A>G	ENST00000319725.9	+	15	1481	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	469					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)		GCCAAGGTGAATGGGAACCCC	0.552																																						.											0													99	104	103					9																	133507382		1953	4139	6092	SO:0001583	missense	8939			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.1406A>G	9.37:g.133507382A>G	ENSP00000318177:p.Asn469Ser		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	A	7.924	0.739134	0.15642	.	.	ENSG00000107164	ENST00000319725	T	0.43294	0.95	4.57	4.57	0.56435	.	0.354853	0.28151	N	0.016416	T	0.25827	0.0629	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.07046	-1.0793	10	0.11485	T	0.65	-7.3958	10.6122	0.45429	1.0:0.0:0.0:0.0	.	469;469	A3KFK8;Q96I24	.;FUBP3_HUMAN	S	469	ENSP00000318177:N469S	ENSP00000318177:N469S	N	+	2	0	FUBP3	132497203	0.974000	0.33945	0.953000	0.39169	0.746000	0.42486	2.155000	0.42301	1.814000	0.52955	0.459000	0.35465	AAT		0.552	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			G	133507382	A	G	133507382	3	3	17	1	0	0	0	0	1	0	0	0	6093	101	4	4	1464	4	FUBP3	9	133507382	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	32813982	133507382	7706049	52	1256											
PNPLA7	375775	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	140409846	140409846	+	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	tttaccttgtggggccgaagGgtcagggtcacctgccccgg	5	9	15	12	2	2	0	2	0	0	0	2	1	2	0	5	5	2	0	5	5	2	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:140409846G>C	ENST00000277531.4	-	11	1321	c.1135C>G	c.(1135-1137)Cct>Gct	p.P379A	PNPLA7_ENST00000406427.1_Missense_Mutation_p.P404A|PNPLA7_ENST00000371457.1_5'UTR	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	379					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)		GGGGCCGAAGGGTCAGGGTCA	0.647																																						.											0													23	26	25					9																	140409846		2183	4289	6472	SO:0001583	missense	375775			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.1135C>G	9.37:g.140409846G>C	ENSP00000277531:p.Pro379Ala		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	g	1.074	-0.669022	0.03403	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.57273	3.5;0.41;0.41;0.41	4.53	-1.66	0.08265	.	0.479528	0.20919	N	0.083313	T	0.34483	0.0899	L	0.57536	1.79	0.09310	N	1	B;B;B	0.20671	0.039;0.047;0.011	B;B;B	0.17722	0.016;0.019;0.009	T	0.20806	-1.0264	10	0.07990	T	0.79	0.3579	2.6459	0.04984	0.0946:0.2603:0.3661:0.2791	.	111;404;379	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	A	111;379;404;379;370;404	ENSP00000360501:P111A;ENSP00000277531:P379A;ENSP00000384610:P404A;ENSP00000400582:P370A	ENSP00000277531:P379A	P	-	1	0	PNPLA7	139529667	0.001000	0.12720	0.001000	0.08648	0.493000	0.33554	0.070000	0.14573	0.001000	0.14605	0.437000	0.28790	CCT		0.647	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		C	140409846	G	C	140409846	3	2	17	1	0	0	0	0	1	0	0	0	12170	1232	43	5	2914	5	PNPLA7	9	140409846	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	6902464	140409846	803585	53	1257											
SRGN	5552	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr10	70863802	70863802	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccatgacaaccttaggTctcttgacaggaatctgccc	9	12	7	13	0	2	2	0	2	2	0	4	3	3	3	3	2	2	0	3	2	3	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:70863802T>C	ENST00000242465.3	+	3	443	c.403T>C	c.(403-405)Tct>Cct	p.S135P	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	135					biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						CAACCTTAGGTCTCTTGACAG	0.463																																						.											0													105	94	98					10																	70863802		2203	4300	6503	SO:0001583	missense	5552			BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"Proteoglycans / Extracellular Matrix : Other"	9361	protein-coding gene	gene with protein product	"serglycin proteoglycan"	177040	"proteoglycan 1, secretory granule"	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.403T>C	10.37:g.70863802T>C	ENSP00000242465:p.Ser135Pro		B2R4L7|Q5VW06	Missense_Mutation	SNP	ENST00000242465.3	37	CCDS7285.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.716689	0.00706	.	.	ENSG00000122862	ENST00000242465	T	0.47869	0.83	4.71	-2.7	0.06004	.	0.726897	0.12665	N	0.449259	T	0.21145	0.0509	N	0.12502	0.225	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33317	-0.9873	10	0.02654	T	1	-17.6268	9.7899	0.40699	0.0:0.3672:0.0:0.6328	.	135	P10124	SRGN_HUMAN	P	135	ENSP00000242465:S135P	ENSP00000242465:S135P	S	+	1	0	SRGN	70533808	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	-1.341000	0.02647	-0.655000	0.05387	0.459000	0.35465	TCT		0.463	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048379.1	NM_002727		C	70863802	T	C	70863802	3	2	17	1	0	0	0	0	1	0	0	0	15147	1667	58	2	413	2	SRGN	10	70863802	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10		70863802	64670945	54	1258											
FUT11	170384	ucsc.edu;bcgsc.ca	37	chr10	75532602	75532602	+	Missense_Mutation	SNP	T	T	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	tcttcaatcttacctccaccTtcagtcgccactcggattac	8	13	4	16	2	4	0	2	0	2	0	7	1	5	1	4	1	2	0	4	1	3	4			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:75532602T>C	ENST00000372841.3	+	1	554	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L	RMRPP1_ENST00000517236.1_RNA|AC022400.2_ENST00000595757.1_5'Flank|FUT11_ENST00000394790.1_Missense_Mutation_p.F171L|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	171					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TACCTCCACCTTCAGTCGCCA	0.682																																						.											0													22	24	24					10																	75532602		2061	4087	6148	SO:0001583	missense	170384			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"Fucosyltransferases"	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.511T>C	10.37:g.75532602T>C	ENSP00000361932:p.Phe171Leu		Q495W7|Q8IYE4	Missense_Mutation	SNP	ENST00000372841.3	37	CCDS7333.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422370	0.83559	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.28666	1.6;1.6	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.90425	3.115	0.80722	D	1	D;D;P	0.60160	0.987;0.957;0.693	D;P;P	0.63381	0.914;0.723;0.67	T	0.69580	-0.5107	10	0.66056	D	0.02	-40.4463	14.5265	0.67892	0.0:0.0:0.0:1.0	.	171;171;171	Q495W5;Q495W5-2;B2RC53	FUT11_HUMAN;.;.	L	171	ENSP00000361932:F171L;ENSP00000378270:F171L	ENSP00000361932:F171L	F	+	1	0	FUT11	75202608	1.000000	0.71417	0.998000	0.56505	0.320000	0.28249	7.951000	0.87819	2.040000	0.60383	0.379000	0.24179	TTC		0.682	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		C	75532602	T	C	75532602	3	2	17	1	0	0	0	0	1	0	0	0	6103	1609	56	2	513	2	FUT11	10	75532602	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10	4668800	75532602	60002145	55	1259											
OPN4	94233	mdanderson.org;bcgsc.ca	37	chr10	88423471	88423471	+	Missense_Mutation	SNP	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	agctgcccagcaagcaaatgGgcggtccctctacggtcagg	9	6	13	13	2	2	0	1	0	1	0	3	0	3	0	2	4	5	3	2	4	3	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:88423471G>T	ENST00000241891.5	+	9	1477	c.1310G>T	c.(1309-1311)gGg>gTg	p.G437V	OPN4_ENST00000372071.2_Missense_Mutation_p.G448V	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	437					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAAGCAAATGGGCGGTCCCTC	0.637																																						.											0													55	45	48					10																	88423471		2198	4299	6497	SO:0001583	missense	94233			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1310G>T	10.37:g.88423471G>T	ENSP00000241891:p.Gly437Val		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238278	0.39598	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.31510	1.49;1.49;1.49	4.69	2.81	0.32909	.	0.619008	0.15585	N	0.254662	T	0.40015	0.1100	M	0.68317	2.08	0.20403	N	0.999906	D;D;D	0.57571	0.966;0.966;0.98	P;P;P	0.55303	0.598;0.598;0.773	T	0.14980	-1.0453	10	0.42905	T	0.14	.	5.1951	0.15232	0.103:0.0:0.6912:0.2058	.	448;437;448	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	V	448;437;448	ENSP00000361141:G448V;ENSP00000241891:G437V;ENSP00000393132:G448V	ENSP00000241891:G437V	G	+	2	0	OPN4	88413451	0.007000	0.16637	0.038000	0.18304	0.004000	0.04260	1.744000	0.38268	1.305000	0.44909	-0.181000	0.13052	GGG		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		T	88423471	G	T	88423471	3	4	17	1	0	0	0	0	1	0	0	0	10882	1232	43	5	1381	5	OPN4	10	88423471	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	12890869	88423471	47111276	56	1260											
TM9SF3	56889	ucsc.edu	37	chr10	98307653	98307653	+	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	gtgagaattcgtaagttaccTccttgtctagcatacagact	11	13	8	9	1	1	2	0	1	1	2	3	3	2	2	2	0	3	3	2	0	5	6			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:98307653T>C	ENST00000371142.4	-	8	1269	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	351						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GTAAGTTACCTCCTTGTCTAG	0.368																																						.											0													141	139	140					10																	98307653		2203	4300	6503	SO:0001630	splice_region_variant	56889			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1054+1A>G	10.37:g.98307653T>C			Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP	ENST00000371142.4	37	CCDS7450.1																																																																																				0.368	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	Silent	C	98307653	T	C	98307653	5	2	17	1	0	0	0	0	0	0	1	0	15976	1565	54	2	748	2	TM9SF3	10	98307653	Splice_Site	SNP	T	TCGA-KL-8339-01A-11D-2310-10	9884182	98307653	37227094	57	1261											
ANKRD2	26287	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr10	99342111	99342111	+	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	acgtggcagtccggacagggCaggtggagattgtggagcac	9	6	18	8	2	0	1	0	0	0	1	1	4	1	3	1	6	1	3	1	6	0	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:99342111C>T	ENST00000307518.5	+	7	1042	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	ANKRD2_ENST00000298808.5_Intron|HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|HOGA1_ENST00000370647.4_5'Flank|ANKRD2_ENST00000455090.1_Intron|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000370655.1_Nonsense_Mutation_p.Q232*			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	259					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)		CCGGACAGGGCAGGTGGAGAT	0.612																																						.											0													58	44	49					10																	99342111		2187	4286	6473	SO:0001587	stop_gained	26287			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.775C>T	10.37:g.99342111C>T	ENSP00000306163:p.Gln259*		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Nonsense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852611	0.71719	.	.	ENSG00000165887	ENST00000307518;ENST00000370655	.	.	.	5.6	5.6	0.85130	.	0.494981	0.20990	N	0.082053	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.7429	13.9655	0.64207	0.1523:0.8477:0.0:0.0	.	.	.	.	X	259;232	.	ENSP00000306163:Q259X	Q	+	1	0	ANKRD2	99332101	0.573000	0.26676	0.303000	0.25071	0.007000	0.05969	4.842000	0.62831	2.636000	0.89361	0.655000	0.94253	CAG		0.612	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	99342111	C	T	99342111	4	4	17	1	0	0	0	0	0	1	0	0	647	711	25	4	801	4	ANKRD2	10	99342111	Nonsense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	1034458	99342111	36192636	58	1262											
MUC5B	727897	broad.mit.edu	37	chr11	1264078	1264079	+	Frame_Shift_Ins	INS	-	-	C																															cccctcttcctccctgggcaINSccacctggacccgcctatca																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:1264078_1264079insC	ENST00000529681.1	+	31	6026_6027	c.5968_5969insC	c.(5968-5970)accfs	p.T1990fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.T1993fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1990	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)		CTCCCTGGGCACCACCTGGACC	0.629																																						.											0																																										SO:0001589	frameshift_variant	727897			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.5970dupC	11.37:g.1264080_1264080dupC	ENSP00000436812:p.Thr1990fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.629	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1264079	-	C	1264078	7	5	17	1	0	1	1	0	0	0	0	0	9979	159	6	0	6099	0	MUC5B	11	1264078	Frame_Shift_Ins	INS	-	TCGA-KL-8339-01A-11D-2310-10		1264078	133742438	59	1263											
METT5D1	196074	broad.mit.edu;hgsc.bcm.edu	37	chr11	28232627	28232627	+	Frame_Shift_Del	DEL	T	T	-																															agatttttctagatatgacaTttggttcgggagggcacaca																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:28232627delT	ENST00000407364.3	+	4	641	c.289delT	c.(289-291)tttfs	p.F97fs	METTL15_ENST00000406787.3_Frame_Shift_Del_p.F97fs|METTL15_ENST00000342303.5_Frame_Shift_Del_p.F97fs|METTL15_ENST00000303459.6_Frame_Shift_Del_p.F97fs			A6NJ78	MET15_HUMAN	methyltransferase like 15	97							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGATATGACATTTGGTTCGGG	0.373																																						.											0													82	76	78					11																	28232627		2202	4298	6500	SO:0001589	frameshift_variant	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.289delT	11.37:g.28232627delT	ENSP00000384369:p.Phe97fs		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Frame_Shift_Del	DEL	ENST00000407364.3	37	CCDS44559.1																																																																																				0.373	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		-	28232627	T	-	28232627	7	5	17	1	0	1	0	1	0	0	0	0	9492	1493	52	0	295	0	METT5D1	11	28232627	Frame_Shift_Del	DEL	T	TCGA-KL-8339-01A-11D-2310-10	26968549	28232627	106773889	60	1264	33	2									
METT5D1	196074	bcgsc.ca	37	chr11	28232628	28232628	+	Frame_Shift_Del	DEL	T	T	-																															gatttttctagatatgacatTtggttcgggagggcacacaa																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:28232628delT	ENST00000407364.3	+	4	642	c.290delT	c.(289-291)tttfs	p.F97fs	METTL15_ENST00000406787.3_Frame_Shift_Del_p.F97fs|METTL15_ENST00000342303.5_Frame_Shift_Del_p.F97fs|METTL15_ENST00000303459.6_Frame_Shift_Del_p.F97fs			A6NJ78	MET15_HUMAN	methyltransferase like 15	97							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						GATATGACATTTGGTTCGGGA	0.373																																						.											0													82	76	78					11																	28232628		2202	4298	6500	SO:0001589	frameshift_variant	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.290delT	11.37:g.28232628delT	ENSP00000384369:p.Phe97fs		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Frame_Shift_Del	DEL	ENST00000407364.3	37	CCDS44559.1																																																																																				0.373	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		-	28232628	T	-	28232628	7	5	17	1	0	1	0	1	0	0	0	0	9492	1841	64	0	296	0	METT5D1	11	28232628	Frame_Shift_Del	DEL	T	TCGA-KL-8339-01A-11D-2310-10	1	28232628	106773888	61	1265	33	2									
OR8H2	390151	mdanderson.org	37	chr11	55872876	55872876	+	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	accttctctcctcaatggccCatgatcgctatgcagcgatc	8	11	7	15	2	2	1	1	1	1	0	6	2	3	1	3	1	2	2	3	1	2	2	rs2512961	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:55872876C>T	ENST00000313503.1	+	1	358	c.358C>T	c.(358-360)Cat>Tat	p.H120Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	120			H -> Y (in dbSNP:rs2512961).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCAATGGCCCATGATCGCTA	0.468										HNSCC(53;0.14)			t|||	4805	0.959465	0.9818	0.9553	5008	,	,		20869	0.999		0.9056	False		,,,				2504	0.9468					.											0								T	TYR/HIS	4276,126	92.5+/-131.2	2075,126,0	190	194	193		358	3.6	1	11	dbSNP_100	193	7895,693	170.4+/-221.6	3635,625,34	no	missense	OR8H2	NM_001005200.1	83	5710,751,34	TT,TC,CC		8.0694,2.8623,6.3048	benign	120/313	55872876	12171,819	2201	4294	6495	SO:0001583	missense	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.358C>T	11.37:g.55872876C>T	ENSP00000323982:p.His120Tyr		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	2072	0.9487179487179487	477	0.9695121951219512	343	0.9475138121546961	568	0.993006993006993	684	0.9023746701846965	t	0.004	-2.255890	0.00265	0.971377	0.919306	ENSG00000181767	ENST00000313503	T	0.01323	5.01	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	N	0.000204	T	0.00012	0.0000	N	0.00010	-3.035	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	9	0.02654	T	1	.	9.4364	0.38641	0.0:0.0887:0.0:0.9113	rs2512961;rs7109885;rs2512961	120	Q8N162	OR8H2_HUMAN	Y	120	ENSP00000323982:H120Y	ENSP00000323982:H120Y	H	+	1	0	OR8H2	55629452	0.008000	0.16893	0.995000	0.50966	0.016000	0.09150	1.754000	0.38369	0.518000	0.28383	-0.692000	0.03713	CAT		0.468	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		T	55872876	C	T	55872876	3	4	17	1	0	0	0	0	1	0	0	0	11238	594	21	4	360	4	OR8H2	11	55872876	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	27640248	55872876	79133640	62	1266											
OR5M1	390168	mdanderson.org	37	chr11	56380811	56380811	+	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	aggaagaaatacatgggtgtTtgcaggtgggaattggtcct	11	11	15	4	0	0	1	0	0	0	1	1	3	1	3	1	5	2	2	1	5	4	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:56380811T>C	ENST00000526538.1	-	1	167	c.168A>G	c.(166-168)caA>caG	p.Q56Q		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ACATGGGTGTTTGCAGGTGGG	0.453																																						.											0													181	178	179					11																	56380811		1990	4164	6154	SO:0001819	synonymous_variant	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.168A>G	11.37:g.56380811T>C			Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	CCDS53631.1																																																																																				0.453	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		C	56380811	T	C	56380811	2	2	17	1	0	0	0	0	0	0	0	1	11172	1838	64	4		4	OR5M1	11	56380811	Silent	SNP	T	TCGA-KL-8339-01A-11D-2310-10	507935	56380811	78625705	63	1267											
AASDHPPT	60496	bcgsc.ca	37	chr11	105950206	105950206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaacaggctggtcgtctgAtgataaggaaattagttgca	12	12	11	6	1	1	2	0	2	1	0	2	3	1	3	0	3	2	3	0	3	4	4			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:105950206A>G	ENST00000278618.4	+	2	418	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	KBTBD3_ENST00000534815.1_5'Flank|KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	66					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TGGTCGTCTGATGATAAGGAA	0.353																																						.											0													45	43	44					11																	105950206		2201	4299	6500	SO:0001583	missense	60496			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.196A>G	11.37:g.105950206A>G	ENSP00000278618:p.Met66Val		B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430530	0.43122	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.91	4.72	0.59763	4&apos (1);-phosphopantetheinyl transferase (1);	0.055781	0.64402	D	0.000001	T	0.37320	0.0999	L	0.39514	1.22	0.39576	D	0.969351	P	0.35821	0.523	B	0.28305	0.088	T	0.43114	-0.9411	9	0.59425	D	0.04	.	7.0036	0.24823	0.6357:0.2457:0.0:0.1186	.	66	Q9NRN7	ADPPT_HUMAN	V	1;1;66	.	ENSP00000278618:M66V	M	+	1	0	AASDHPPT	105455416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.921000	0.56454	2.254000	0.74563	0.533000	0.62120	ATG		0.353	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		G	105950206	A	G	105950206	3	3	17	1	0	0	0	0	1	0	0	0	23	333	12	4	202	4	AASDHPPT	11	105950206	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	49569395	105950206	29056310	64	1268											
HYLS1	219844	bcgsc.ca	37	chr11	125770068	125770068	+	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	acaattatctagtaccaacaGagaagaaaaggtctgcactc	17	8	7	9	0	2	2	0	0	2	2	3	3	2	2	1	1	3	2	1	1	8	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:125770068G>C	ENST00000425380.2	+	3	1586	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.E269Q|HYLS1_ENST00000356438.3_Missense_Mutation_p.E269Q	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	269						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		AGTACCAACAGAGAAGAAAAG	0.468																																					Esophageal Squamous(172;2590 2636 8884 10471)	.											0													89	84	86					11																	125770068		2201	4299	6500	SO:0001583	missense	219844			AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.805G>C	11.37:g.125770068G>C	ENSP00000414884:p.Glu269Gln		B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439812	0.63067	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.78246	-1.16;-1.16;-1.16	6.02	4.93	0.64822	.	0.231743	0.33895	N	0.004450	T	0.81446	0.4824	L	0.48642	1.525	0.80722	D	1	D	0.61080	0.989	P	0.58266	0.836	T	0.80348	-0.1420	10	0.44086	T	0.13	.	14.9776	0.71286	0.1182:0.0:0.8818:0.0	.	269	Q96M11	HYLS1_HUMAN	Q	269	ENSP00000348815:E269Q;ENSP00000414884:E269Q;ENSP00000436833:E269Q	ENSP00000348815:E269Q	E	+	1	0	HYLS1	125275278	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.606000	0.54095	2.865000	0.98341	0.655000	0.94253	GAG		0.468	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		C	125770068	G	C	125770068	3	2	17	1	0	0	0	0	1	0	0	0	7469	943	33	5	807	5	HYLS1	11	125770068	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	19819862	125770068	9236448	65	1269											
CACNA1C	775	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	2794921	2794921	+	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	ggctctcctaccaggatgacGaaaatcggcaactgacgctc	11	7	10	13	3	1	2	0	2	1	0	4	4	1	3	2	3	2	3	2	3	4	1	rs200231105	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:2794921G>A	ENST00000347598.4	+	46	5737	c.5737G>A	c.(5737-5739)Gaa>Aaa	p.E1913K	CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1871K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1884K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1900K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1885K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1906K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1936K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1882K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1936K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1890K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1893K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1948					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)	p.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2)		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)	CCAGGATGACGAAAATCGGCA	0.592																																						.											10	Substitution - Missense(10)	kidney(5)|endometrium(5)											47	48	48					12																	2794921		2013	4164	6177	SO:0001583	missense	775			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.5737G>A	12.37:g.2794921G>A	ENSP00000266376:p.Glu1913Lys		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	15.97	2.988512	0.53934	.	.	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	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.26	3.35	0.38373	.	1.675690	0.03914	N	0.282339	T	0.64427	0.2597	L	0.39633	1.23	0.24214	N	0.99546	P;D;P;B;D;P;P;D;B;B;D;P;P;B;P;B;P;B;D;P;P;D;D;P;P	0.76494	0.801;0.999;0.941;0.097;0.999;0.921;0.953;0.961;0.11;0.33;0.978;0.941;0.757;0.432;0.902;0.306;0.757;0.062;0.978;0.588;0.769;0.961;0.961;0.882;0.941	B;P;B;B;D;B;B;P;B;B;P;B;B;B;B;B;B;B;P;B;B;P;P;B;B	0.78314	0.21;0.858;0.304;0.03;0.991;0.308;0.378;0.485;0.04;0.071;0.485;0.304;0.122;0.099;0.114;0.033;0.122;0.024;0.485;0.172;0.172;0.485;0.485;0.172;0.304	T	0.56056	-0.8042	10	0.07030	T	0.85	.	14.0749	0.64885	0.0:0.1521:0.8479:0.0	.	556;1906;1862;1948;1900;1884;1865;1882;1893;1865;1885;1865;1896;1913;1865;1900;1936;1873;1871;1873;1854;1884;1884;1865;1865	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	1890;1865;1865;1893;1865;1884;1884;1873;1865;1913;1885;1865;1906;1882;1900;1871;1884;1865;1936;1900;1936;1873;1766	ENSP00000336982:E1890K;ENSP00000382563:E1865K;ENSP00000382552:E1865K;ENSP00000382547:E1893K;ENSP00000382506:E1865K;ENSP00000382530:E1884K;ENSP00000382546:E1884K;ENSP00000382500:E1873K;ENSP00000382549:E1865K;ENSP00000266376:E1913K;ENSP00000382515:E1885K;ENSP00000382510:E1865K;ENSP00000341092:E1906K;ENSP00000382537:E1882K;ENSP00000329877:E1900K;ENSP00000382557:E1871K;ENSP00000385724:E1884K;ENSP00000382512:E1865K;ENSP00000382542:E1936K;ENSP00000382526:E1900K;ENSP00000385896:E1936K;ENSP00000382504:E1873K	ENSP00000323129:E1766K	E	+	1	0	CACNA1C	2665182	1.000000	0.71417	0.943000	0.38184	0.802000	0.45316	5.486000	0.66856	0.981000	0.38548	0.449000	0.29647	GAA		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2794921	G	A	2794921	3	1	17	1	0	0	0	0	1	0	0	0	2540	1059	37	1	6476	1	CACNA1C	12	2794921	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		2794921	131056974	66	1270											
FKBP4	2288	mdanderson.org;bcgsc.ca	37	chr12	2907983	2907983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaagcccaatgagggtgctAtcgtggagggtgagacagta	11	8	15	7	1	0	2	0	2	0	1	1	4	0	3	1	3	2	2	1	3	4	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:2907983A>G	ENST00000001008.4	+	4	692	c.505A>G	c.(505-507)Atc>Gtc	p.I169V	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	169	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)			TGAGGGTGCTATCGTGGAGGG	0.493																																						.											0													100	88	92					12																	2907983		2203	4300	6503	SO:0001583	missense	2288			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.505A>G	12.37:g.2907983A>G	ENSP00000001008:p.Ile169Val		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	A	5.452	0.268424	0.10349	.	.	ENSG00000004478	ENST00000001008	D	0.85258	-1.96	5.08	-4.03	0.04021	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	1.031610	0.07658	N	0.933160	T	0.63462	0.2513	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53078	-0.8489	10	0.09590	T	0.72	0.0032	9.1629	0.37035	0.2291:0.5673:0.2036:0.0	.	169	Q02790	FKBP4_HUMAN	V	169	ENSP00000001008:I169V	ENSP00000001008:I169V	I	+	1	0	FKBP4	2778244	0.000000	0.05858	0.002000	0.10522	0.139000	0.21198	-0.714000	0.05002	-1.127000	0.02925	-0.468000	0.05107	ATC		0.493	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			G	2907983	A	G	2907983	3	3	17	1	0	0	0	0	1	0	0	0	5910	449	16	4	519	4	FKBP4	12	2907983	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	113062	2907983	130943912	67	1271											
MED21	9412	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr12	27179446	27179446	+	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	agacagcaattaacaaagacCagccagctaaccctacagaa	19	4	6	12	0	0	3	0	0	0	3	0	3	0	3	3	0	6	2	3	0	6	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:27179446C>A	ENST00000282892.3	+	2	166	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	MED21_ENST00000546323.1_Missense_Mutation_p.Q46K|MED21_ENST00000536503.1_Intron	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	46					blastocyst development (GO:0001824)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)	DNA-directed RNA polymerase activity (GO:0003899)|transcription coactivator activity (GO:0003713)					Colorectal(261;0.0847)					TAACAAAGACCAGCCAGCTAA	0.373																																						.											0													120	106	111					12																	27179446		2203	4300	6503	SO:0001583	missense	9412			U46837	CCDS8711.1	12p12	2007-07-30	2007-07-30	2007-07-30		ENSG00000152944			11473	protein-coding gene	gene with protein product		603800	"SRB7 (suppressor of RNA polymerase B, yeast) homolog", "SRB7 suppressor of RNA polymerase B homolog (yeast)"	SURB7		8598913	Standard	NM_004264		Approved	SRB7	uc001rhp.2	Q13503		ENST00000282892.3:c.136C>A	12.37:g.27179446C>A	ENSP00000282892:p.Gln46Lys		B2R4I3|Q6IB05|Q92811	Missense_Mutation	SNP	ENST00000282892.3	37	CCDS8711.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624150	0.46840	.	.	ENSG00000152944	ENST00000546323;ENST00000282892	.	.	.	4.99	4.99	0.66335	.	0.056410	0.64402	D	0.000001	T	0.48874	0.1524	L	0.44542	1.39	0.80722	D	1	P	0.34462	0.454	B	0.34652	0.187	T	0.45585	-0.9251	9	0.06236	T	0.91	-25.0929	18.762	0.91855	0.0:1.0:0.0:0.0	.	46	Q13503	MED21_HUMAN	K	46	.	ENSP00000282892:Q46K	Q	+	1	0	MED21	27070713	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.995000	0.76257	2.708000	0.92522	0.585000	0.79938	CAG		0.373	MED21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403262.1	NM_004264		A	27179446	C	A	27179446	3	1	17	1	0	0	0	0	1	0	0	0	9439	595	21	5	142	5	MED21	12	27179446	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	24271463	27179446	106672449	68	1272											
PDZRN4	29951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	41967467	41967467	+	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	cagcgccgtcgccgtgagttCatgatgcgaagcaggttaga	9	8	14	10	5	1	3	1	2	0	1	2	4	1	3	2	1	3	3	2	1	2	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:41967467C>A	ENST00000402685.2	+	10	2894	c.2886C>A	c.(2884-2886)ttC>ttA	p.F962L	PDZRN4_ENST00000298919.7_Missense_Mutation_p.F702L|PDZRN4_ENST00000539469.2_Missense_Mutation_p.F704L	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	962							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCCGTGAGTTCATGATGCGAA	0.517																																						.											0													75	70	71					12																	41967467		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2886C>A	12.37:g.41967467C>A	ENSP00000384197:p.Phe962Leu		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825721	0.32237	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.39229	1.09;1.09;1.09	4.9	4.9	0.64082	.	0.067180	0.64402	D	0.000007	T	0.41213	0.1149	L	0.35487	1.065	0.58432	D	0.999999	P;B;B	0.46220	0.874;0.045;0.045	P;B;B	0.45119	0.47;0.061;0.075	T	0.32824	-0.9892	10	0.49607	T	0.09	-20.3562	18.9769	0.92740	0.0:1.0:0.0:0.0	.	962;702;704	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	L	962;704;702	ENSP00000384197:F962L;ENSP00000439990:F704L;ENSP00000298919:F702L	ENSP00000298919:F702L	F	+	3	2	PDZRN4	40253734	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	3.234000	0.51320	2.656000	0.90262	0.557000	0.71058	TTC		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		A	41967467	C	A	41967467	3	1	17	1	0	0	0	0	1	0	0	0	11710	825	29	5	2997	5	PDZRN4	12	41967467	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	14788021	41967467	91884428	69	1273											
KRT1	3848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	53073958	53073958	+	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	ccgacttccaaatccaccacCagcaccaaagctaccaccac	14	4	3	20	1	0	0	0	0	0	0	2	1	2	0	8	0	3	2	8	0	3	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:53073958C>G	ENST00000252244.3	-	1	233	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	59	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AATccaccaccagcaccaaag	0.557																																						.											0													153	152	153					12																	53073958		2202	4300	6502	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.175G>C	12.37:g.53073958C>G	ENSP00000252244:p.Gly59Arg		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	3.038	-0.198146	0.06219	.	.	ENSG00000167768	ENST00000252244	D	0.96073	-3.9	3.52	1.64	0.23874	.	.	.	.	.	D	0.94235	0.8149	L	0.59436	1.845	0.25709	N	0.9855	D	0.54047	0.964	P	0.52672	0.706	D	0.86298	0.1678	9	0.24483	T	0.36	.	5.6488	0.17604	0.0:0.739:0.0:0.261	.	59	P04264	K2C1_HUMAN	R	59	ENSP00000252244:G59R	ENSP00000252244:G59R	G	-	1	0	KRT1	51360225	0.000000	0.05858	0.355000	0.25773	0.381000	0.30169	-0.526000	0.06207	0.318000	0.23185	0.491000	0.48974	GGT		0.557	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		G	53073958	C	G	53073958	3	3	17	1	0	0	0	0	1	0	0	0	8447	594	21	5	1795	5	KRT1	12	53073958	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	11106491	53073958	80777937	70	1274											
RASAL1	8437	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	113543595	113543595	+	Missense_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	gcttcttgaaggcaaagcgcGtggccaggccggcaggctcc	7	6	15	13	3	1	1	0	1	1	0	2	1	2	1	3	5	1	4	3	5	2	2	rs149732792		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:113543595G>A	ENST00000261729.5	-	17	2066	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	RASAL1_ENST00000446861.3_Missense_Mutation_p.T584M|RASAL1_ENST00000546530.1_Missense_Mutation_p.T586M|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.T585M			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	584	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGCAAAGCGCGTGGCCAGGCC	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		20842	0		0	False		,,,				2504	0					.											0								G	MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	65	69	68		1757,1751,1751	5.4	0.5	12	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense,missense	RASAL1	NM_001193520.1,NM_001193521.1,NM_004658.2	81,81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	586/807,584/777,584/805	113543595	2,13004	2203	4300	6503	SO:0001583	missense	8437			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.1751C>T	12.37:g.113543595G>A	ENSP00000261729:p.Thr584Met		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811715	0.32053	4.54E-4	0.0	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.36	5.36	0.76844	Rho GTPase activation protein (1);Pleckstrin homology-type (1);Pleckstrin homology domain (3);Ras GTPase-activating protein (1);	0.653207	0.16178	N	0.225974	T	0.22044	0.0531	N	0.21373	0.66	0.09310	N	0.999999	D;D;D;B;B;D	0.58970	0.982;0.98;0.984;0.132;0.16;0.98	P;P;P;B;B;P	0.54544	0.755;0.641;0.755;0.017;0.029;0.641	T	0.21245	-1.0251	10	0.16420	T	0.52	.	17.8471	0.88733	0.0:0.0:1.0:0.0	.	585;585;598;586;584;584	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	M	586;584;584;585	ENSP00000450244:T586M;ENSP00000261729:T584M;ENSP00000395920:T584M;ENSP00000448510:T585M	ENSP00000261729:T584M	T	-	2	0	RASAL1	112027978	1.000000	0.71417	0.484000	0.27391	0.791000	0.44710	5.909000	0.69923	2.517000	0.84864	0.455000	0.32223	ACG		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113543595	G	A	113543595	3	1	17	1	0	0	0	0	1	0	0	0	13063	1145	40	1	687	1	RASAL1	12	113543595	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	60469637	113543595	20308300	71	1275											
ZMYM5	9205	bcgsc.ca	37	chr13	20426145	20426145	+	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	tagattcaataaacacaacaTcatcatcatcatcatcatct	17	12	1	11	0	8	1	7	0	1	1	8	1	8	1	0	0	2	0	0	0	5	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr13:20426145T>A	ENST00000337963.4	-	3	440	c.176A>T	c.(175-177)gAt>gTt	p.D59V	ZMYM5_ENST00000382905.4_Missense_Mutation_p.D59V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.D59V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AAACACAAcatcatcatcatc	0.378																																						.											0													100	96	98					13																	20426145		2203	4300	6503	SO:0001583	missense	9205			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176A>T	13.37:g.20426145T>A	ENSP00000337034:p.Asp59Val		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	T	10.24	1.296635	0.23650	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	0.575	0.575	0.17374	.	.	.	.	.	T	0.54727	0.1876	M	0.73598	2.24	0.25900	N	0.983367	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.87578	0.99;0.998;0.996	T	0.39057	-0.9632	8	0.49607	T	0.09	-11.1414	.	.	.	.	59;59;59	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	V	59;49;59;59	ENSP00000337034:D59V;ENSP00000445779:D49V;ENSP00000372364:D59V;ENSP00000372361:D59V	ENSP00000337034:D59V	D	-	2	0	ZMYM5	19324145	0.999000	0.42202	0.998000	0.56505	0.918000	0.54935	0.221000	0.17680	0.554000	0.29061	0.219000	0.17774	GAT		0.378	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		A	20426145	T	A	20426145	3	1	17	1	0	0	0	0	1	0	0	0	17700	1435	50	5	1968	5	ZMYM5	13	20426145	Missense_Mutation	SNP	T	TCGA-KL-8339-01A-11D-2310-10		20426145	94743733	72	1276											
DIAPH3	81624	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr13	60240728	60240728	+	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	ccagtttaacttataaagctCgtaatcttgccagcagggct	11	12	8	10	1	1	0	0	0	1	0	2	0	1	0	2	1	4	5	2	1	5	6			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr13:60240728C>T	ENST00000400324.4	-	28	3792	c.3572G>A	c.(3571-3573)cGa>cAa	p.R1191Q	DIAPH3_ENST00000400319.1_Missense_Mutation_p.R1121Q|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1180Q|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1191Q|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R1145Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1191					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)		TTATAAAGCTCGTAATCTTGC	0.323																																						.											0													62	59	60					13																	60240728		1798	4064	5862	SO:0001583	missense	81624			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.3572G>A	13.37:g.60240728C>T	ENSP00000383178:p.Arg1191Gln		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841641	0.71488	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	D;D;D;D;D	0.82803	-1.63;-1.63;-1.65;-1.6;-1.59	5.55	4.7	0.59300	.	1.783920	0.04654	U	0.407671	D	0.87442	0.6178	N	0.24115	0.695	0.28433	N	0.917184	D	0.89917	1.0	D	0.79108	0.992	T	0.78945	-0.2004	10	0.87932	D	0	.	14.7908	0.69841	0.0:0.9292:0.0:0.0708	.	1191	Q9NSV4	DIAP3_HUMAN	Q	1191;1191;1180;1145;1121;1180;1121;1145	ENSP00000383178:R1191Q;ENSP00000383184:R1191Q;ENSP00000367141:R1180Q;ENSP00000383173:R1121Q;ENSP00000383174:R1145Q	ENSP00000367141:R1180Q	R	-	2	0	DIAPH3	59138729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.392000	0.59659	2.602000	0.87976	0.655000	0.94253	CGA		0.323	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60240728	C	T	60240728	3	4	17	1	0	0	0	0	1	0	0	0	4520	884	31	1	13	1	DIAPH3	13	60240728	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	39814583	60240728	54929150	73	1277											
PABPN1	8106	hgsc.bcm.edu	37	chr14	23790864	23790864	+	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	gagcctgaggagctgctgctGgagcccgagccggagcccga	7	4	17	13	3	0	1	0	1	0	0	0	7	0	4	4	3	7	3	4	3	0	0	rs188436762	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr14:23790864G>A	ENST00000216727.4	+	1	367	c.186G>A	c.(184-186)ctG>ctA	p.L62L	PABPN1_ENST00000557702.1_5'Flank|PABPN1_ENST00000397276.2_Silent_p.L62L|PABPN1_ENST00000556821.1_5'UTR|BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron|AL049829.1_ENST00000594872.1_Missense_Mutation_p.P85L	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	62	Interacts with SKIP.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGCTGCTGCTGGAGCCCGAGC	0.801													G|||	74	0.0147764	0	0.0058	5008	,	,		4069	0		0.0219	False		,,,				2504	0.0491					.											0								G	,	7,2789		0,7,1391	2	2	2		,186	1.7	1	14		2	49,5451		0,49,2701	no	intron,coding-synonymous	PABPN1,BCL2L2-PABPN1	NM_001199864.1,NM_004643.3	,	0,56,4092	AA,AG,GG		0.8909,0.2504,0.675	,	,62/307	23790864	56,8240	1398	2750	4148	SO:0001819	synonymous_variant	8106			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.186G>A	14.37:g.23790864G>A			D3DS49|O43484	Silent	SNP	ENST00000216727.4	37	CCDS9592.1																																																																																				0.801	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		A	23790864	G	A	23790864	2	1	17	1	0	0	0	0	0	0	0	1	11368	1335	47	4		4	PABPN1	14	23790864	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10		23790864	83558676	74	1278											
ADCY4	196883	hgsc.bcm.edu;mdanderson.org	37	chr14	24788628	24788628	+	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	ttctccaccccactgaacttGggcttggagagcagctgtat	8	11	10	12	0	1	2	0	1	1	1	2	3	1	2	3	2	3	4	3	2	2	4			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr14:24788628G>T	ENST00000310677.4	-	23	2861	c.2748C>A	c.(2746-2748)ccC>ccA	p.P916P	ADCY4_ENST00000554068.2_Silent_p.P916P|ADCY4_ENST00000418030.2_Silent_p.P916P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	916					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)		CACTGAACTTGGGCTTGGAGA	0.547																																						.											0													153	128	136					14																	24788628		2203	4300	6503	SO:0001819	synonymous_variant	196883			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.2748C>A	14.37:g.24788628G>T			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1																																																																																				0.547	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			T	24788628	G	T	24788628	2	4	17	1	0	0	0	0	0	0	0	1	296	1335	47	5		5	ADCY4	14	24788628	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	997764	24788628	82560912	75	1279											
WDR72	256764	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	53908269	53908269	+	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	gctcttggctcttctcaggaCctcaccaccatagaatgaac	10	10	7	14	0	4	2	2	1	3	1	5	3	4	3	3	2	1	2	3	2	3	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr15:53908269C>A	ENST00000396328.1	-	15	2373	c.2134G>T	c.(2134-2136)Gtc>Ttc	p.V712F	WDR72_ENST00000557913.1_Missense_Mutation_p.V709F|WDR72_ENST00000360509.5_Missense_Mutation_p.V712F|WDR72_ENST00000559418.1_Missense_Mutation_p.V722F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	712										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCTCAGGACCTCACCACCA	0.448																																						.											0													103	90	95					15																	53908269		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2134G>T	15.37:g.53908269C>A	ENSP00000379619:p.Val712Phe		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	4.185	0.032979	0.08101	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35236	1.32;1.32	5.63	0.289	0.15723	.	0.547874	0.18921	N	0.127463	T	0.10594	0.0259	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	10	0.10111	T	0.7	.	1.2131	0.01908	0.1372:0.2327:0.1424:0.4877	.	712	Q3MJ13	WDR72_HUMAN	F	712	ENSP00000379619:V712F;ENSP00000353699:V712F	ENSP00000353699:V712F	V	-	1	0	WDR72	51695561	0.371000	0.25056	0.248000	0.24265	0.239000	0.25481	0.442000	0.21628	0.070000	0.16634	-0.471000	0.05019	GTC		0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		A	53908269	C	A	53908269	3	1	17	1	0	0	0	0	1	0	0	0	17319	507	18	5	1198	5	WDR72	15	53908269	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		53908269	48623123	76	1280											
CD276	80381	broad.mit.edu;mdanderson.org	37	chr15	73996604	73996604	+	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	catcacgtgctccagctaccGgggctaccctgaggctgagg	7	7	13	14	2	1	2	1	2	0	0	2	2	2	2	3	4	4	4	3	4	2	2	rs150186392	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr15:73996604G>A	ENST00000318443.5	+	6	1462	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	CD276_ENST00000318424.5_Missense_Mutation_p.R169Q|CD276_ENST00000564751.1_Missense_Mutation_p.R169Q|CD276_ENST00000561213.1_Missense_Mutation_p.R387Q|CD276_ENST00000537340.2_Missense_Mutation_p.R241Q	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	387	Ig-like C2-type 2.			R -> Q (in Ref. 3; AAQ88709). {ECO:0000305}.	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)	p.R387Q(1)		endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCCAGCTACCGGGGCTACCCT	0.637													G|||	8	0.00159744	0.0023	0.0014	5008	,	,		21293	0.001		0.003	False		,,,				2504	0					.											1	Substitution - Missense(1)	lung(1)											97	88	91					15																	73996604		2198	4297	6495	SO:0001583	missense	80381			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.1160G>A	15.37:g.73996604G>A	ENSP00000320084:p.Arg387Gln		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177721	0.21787	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000537340	T;T;T	0.16897	2.31;2.31;2.31	4.28	2.34	0.29019	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.430418	0.25130	N	0.032914	T	0.06280	0.0162	N	0.04724	-0.175	0.22531	N	0.999014	B;B;B;B	0.31435	0.073;0.001;0.323;0.276	B;B;B;B	0.25140	0.024;0.002;0.058;0.026	T	0.23797	-1.0178	10	0.62326	D	0.03	-14.0859	3.2429	0.06787	0.3219:0.2114:0.4667:0.0	.	333;169;387;387	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	Q	169;387;387;241	ENSP00000320058:R169Q;ENSP00000320084:R387Q;ENSP00000441087:R241Q	ENSP00000320058:R169Q	R	+	2	0	CD276	71783657	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	2.125000	0.42016	0.774000	0.33427	0.456000	0.33151	CGG		0.637	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		A	73996604	G	A	73996604	3	1	17	1	0	0	0	0	1	0	0	0	2992	1116	39	1	1178	1	CD276	15	73996604	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	20088335	73996604	28534788	77	1281											
IL32	9235	broad.mit.edu	37	chr16	3119142	3119142	+	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	gttccaggccatgctgcagcGgctgcagacctggtggcacg	6	7	15	13	2	0	1	0	0	0	1	1	1	1	1	3	4	4	6	3	4	0	1			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr16:3119142G>A	ENST00000534507.1	+	6	702	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	IL32_ENST00000325568.5_Missense_Mutation_p.R118Q|IL32_ENST00000528163.2_Missense_Mutation_p.R118Q|IL32_ENST00000529699.1_Missense_Mutation_p.R98Q|IL32_ENST00000533097.2_Missense_Mutation_p.R118Q|IL32_ENST00000549213.1_Intron|IL32_ENST00000530890.1_Missense_Mutation_p.R98Q|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000396890.2_Missense_Mutation_p.R164Q|IL32_ENST00000548476.1_Missense_Mutation_p.R164Q|IL32_ENST00000548246.1_Missense_Mutation_p.R78Q|IL32_ENST00000531965.1_Missense_Mutation_p.R108Q|IL32_ENST00000551122.1_Intron|IL32_ENST00000552664.1_Missense_Mutation_p.R118Q|IL32_ENST00000396887.3_Intron|IL32_ENST00000530538.2_Missense_Mutation_p.R118Q|IL32_ENST00000548652.1_Missense_Mutation_p.R109Q|IL32_ENST00000552356.1_Missense_Mutation_p.R98Q|IL32_ENST00000526464.2_Missense_Mutation_p.R118Q|IL32_ENST00000444393.3_Missense_Mutation_p.R118Q|IL32_ENST00000529550.1_Missense_Mutation_p.R118Q|IL32_ENST00000525643.2_Missense_Mutation_p.R118Q|IL32_ENST00000551513.1_Missense_Mutation_p.R155Q|IL32_ENST00000440815.3_Missense_Mutation_p.R118Q|IL32_ENST00000382213.3_Missense_Mutation_p.R109Q|IL32_ENST00000008180.9_Missense_Mutation_p.R98Q|IL32_ENST00000552936.1_Missense_Mutation_p.R142Q			P24001	IL32_HUMAN	interleukin 32	164					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						ATGCTGCAGCGGCTGCAGACC	0.602																																						.											0													14	17	16					16																	3119142		2187	4273	6460	SO:0001583	missense	9235			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.491G>A	16.37:g.3119142G>A	ENSP00000431775:p.Arg164Gln		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37		.	.	.	.	.	.	.	.	.	.	G	12.54	1.967547	0.34754	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000525228;ENST00000548652;ENST00000530538;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	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	0.73047	-0.71;0.84;0.84;0.84;-0.71;-0.71;-0.71;-0.71;0.84;-0.71;0.84;-0.71;-0.71;0.84;0.84;-0.71;-0.71;-0.71;0.84;0.84;-0.71;0.84;0.84;-0.71;0.84	1.89	-1.81	0.07882	.	.	.	.	.	T	0.50718	0.1632	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P;P	0.41188	0.741;0.741;0.741;0.741;0.555;0.741	B;B;B;B;B;B	0.42916	0.312;0.402;0.402;0.312;0.116;0.402	T	0.43475	-0.9389	9	0.39692	T	0.17	.	5.3676	0.16123	0.5537:0.0:0.4463:0.0	.	78;98;109;98;164;118	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2	.;.;.;.;IL32_HUMAN;.	Q	118;164;108;98;118;118;118;118;164;118;98;118;118;98;164;89;109;118;142;164;118;98;155;109;78	ENSP00000324742:R118Q;ENSP00000431775:R164Q;ENSP00000433177:R108Q;ENSP00000436937:R98Q;ENSP00000450364:R118Q;ENSP00000405063:R118Q;ENSP00000437020:R118Q;ENSP00000432218:R118Q;ENSP00000448354:R164Q;ENSP00000432850:R118Q;ENSP00000433747:R98Q;ENSP00000411958:R118Q;ENSP00000432917:R118Q;ENSP00000008180:R98Q;ENSP00000380099:R164Q;ENSP00000431740:R89Q;ENSP00000446624:R109Q;ENSP00000436929:R118Q;ENSP00000447033:R142Q;ENSP00000449483:R164Q;ENSP00000448683:R118Q;ENSP00000446978:R98Q;ENSP00000449147:R155Q;ENSP00000371648:R109Q;ENSP00000447979:R78Q	ENSP00000008180:R98Q	R	+	2	0	IL32	3059143	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.432000	0.06956	-0.401000	0.07644	-0.287000	0.09952	CGG		0.602	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		A	3119142	G	A	3119142	3	1	17	1	0	0	0	0	1	0	0	0	7692	1116	39	1	375	1	IL32	16	3119142	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		3119142	87235611	78	1282											
GDPD3	79153	ucsc.edu;bcgsc.ca	37	chr16	30122776	30122776	+	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	tgggatgaagggcagcagccCcaggtagtaggaaagcagca	13	4	16	8	0	0	1	0	1	0	0	0	3	0	3	2	4	4	6	2	4	4	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr16:30122776C>T	ENST00000406256.3	-	7	1017	c.640G>A	c.(640-642)Ggg>Agg	p.G214R	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	214	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGCAGCAGCCCCAGGTAGTAG	0.552																																						.											0													134	136	135					16																	30122776		2197	4300	6497	SO:0001583	missense	79153			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.640G>A	16.37:g.30122776C>T	ENSP00000384363:p.Gly214Arg		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606060	0.87157	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.12039	2.72	5.45	5.45	0.79879	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.88775	2.98	0.52099	D	0.999946	D	0.89917	1.0	D	0.91635	0.999	T	0.50717	-0.8795	10	0.72032	D	0.01	.	14.7878	0.69816	0.0:1.0:0.0:0.0	.	214	Q7L5L3	GDPD3_HUMAN	R	214;152	ENSP00000384363:G214R	ENSP00000353909:G152R	G	-	1	0	GDPD3	30030277	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.966000	0.63715	2.523000	0.85059	0.655000	0.94253	GGG		0.552	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		T	30122776	C	T	30122776	3	4	17	1	0	0	0	0	1	0	0	0	6325	623	22	3	332	3	GDPD3	16	30122776	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	27003634	30122776	60231977	79	1283											
RNF167	26001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	4845935	4845935	+	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	acaatgtgaattccaatgaaCttctgaacatggtgtggaat	14	12	9	6	0	1	3	0	3	1	0	2	4	2	4	1	2	2	0	1	2	6	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:4845935C>T	ENST00000262482.6	+	5	1011	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	RNF167_ENST00000575111.1_Missense_Mutation_p.L119F|SLC25A11_ENST00000544061.2_5'Flank|SLC25A11_ENST00000225665.7_5'Flank|RNF167_ENST00000572430.1_Missense_Mutation_p.L119F|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000571816.1_Missense_Mutation_p.L119F|RNF167_ENST00000576229.1_Missense_Mutation_p.L84F	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	119	PA.				negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						TTCCAATGAACTTCTGAACAT	0.512																																						.											0													152	152	152					17																	4845935		2203	4300	6503	SO:0001583	missense	26001			AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"RING-type (C3HC4) zinc fingers"	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.355C>T	17.37:g.4845935C>T	ENSP00000262482:p.Leu119Phe		D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	ENST00000262482.6	37	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158175	0.78114	.	.	ENSG00000108523	ENST00000262482	T	0.06608	3.28	5.91	5.91	0.95273	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	M	0.91510	3.215	0.53005	D	0.999963	D	0.76494	0.999	D	0.83275	0.996	T	0.19289	-1.0310	10	0.56958	D	0.05	-23.6247	17.7884	0.88545	0.0:1.0:0.0:0.0	.	119	Q9H6Y7	RN167_HUMAN	F	119	ENSP00000262482:L119F	ENSP00000262482:L119F	L	+	1	0	RNF167	4786680	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.819000	0.39022	2.804000	0.96469	0.462000	0.41574	CTT		0.512	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		T	4845935	C	T	4845935	3	4	17	1	0	0	0	0	1	0	0	0	13458	565	20	4	369	4	RNF167	17	4845935	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		4845935	76349275	80	1284											
KIAA0753	9851	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	6515464	6515464	+	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	agctccgtatcgggctgataCttatctacatggaaattttt	10	15	8	8	2	1	1	0	1	1	0	3	2	2	2	1	2	3	3	1	2	5	6			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:6515464C>T	ENST00000361413.3	-	8	1678	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	KIAA0753_ENST00000542606.1_Silent_p.K141K|KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Silent_p.K141K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	440						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CGGGCTGATACTTATCTACAT	0.393																																						.											0													79	79	79					17																	6515464		1846	4094	5940	SO:0001819	synonymous_variant	9851				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1320G>A	17.37:g.6515464C>T			A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	CCDS42247.1																																																																																				0.393	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		T	6515464	C	T	6515464	2	4	17	1	0	0	0	0	0	0	0	1	8191	564	20	4		4	KIAA0753	17	6515464	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	1669529	6515464	74679746	81	1285											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7577094	7577094	+	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	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	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;	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		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	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	17	1	0	0	0	0	1	0	0	0	16378	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	1061630	7577094	73618116	82	1286											
SGK494	9703	hgsc.bcm.edu;ucsc.edu	37	chr17	26941165	26941165	+	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	gtgtgctgcccctgccgacaGcttactgctcccattcccag	5	10	9	17	1	0	0	0	0	0	0	2	1	2	0	5	0	6	3	5	0	1	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:26941165G>C	ENST00000528896.2	-	0	7407				RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.S5R|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.S5R|KIAA0100_ENST00000579924.2_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.S5R	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)					CCTGCCGACAGCTTACTGCTC	0.602																																						.											0													70	59	63					17																	26941165		2203	4300	6503	SO:0001628	intergenic_variant	0			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.26941165G>C			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502072	0.44455	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T	0.69685	-0.42;1.38	5.69	3.69	0.42338	.	0.467347	0.22679	N	0.056977	T	0.55065	0.1897	L	0.27053	0.805	0.27099	N	0.962675	P;P	0.48016	0.904;0.578	P;B	0.45829	0.494;0.172	T	0.49995	-0.8879	10	0.44086	T	0.13	-2.377	9.2841	0.37746	0.1697:0.0:0.8303:0.0	.	5;5	E9PMD0;Q96LW2	.;SG494_HUMAN	R	5	ENSP00000301037:S5R;ENSP00000434603:S5R	ENSP00000301037:S5R	S	-	3	2	AC005726.6;RP11-192H23.4	23965292	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	2.075000	0.41538	1.407000	0.46875	0.650000	0.86243	AGC		0.602	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26941165	G	C	26941165	1	2	17	0	1	0	0	0	0	0	0	0	14213	962	34	5		5	SGK494	17	26941165	IGR	SNP	G	TCGA-KL-8339-01A-11D-2310-10	19364071	26941165	54254045	83	1287											
FMNL1	752	mdanderson.org	37	chr17	43319770	43319770	+	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	cactcttgaactgggtggcaCtgaaacccagccagatcacc	11	7	9	14	0	2	3	1	2	1	1	2	3	2	3	3	2	3	1	3	2	2	1	rs1801353	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:43319770C>T	ENST00000331495.3	+	16	2284	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	FMNL1_ENST00000587489.1_Silent_p.L228L|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Silent_p.L650L	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	650	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						CTGGGTGGCACTGAAACCCAG	0.602													C|||	1608	0.321086	0.1036	0.4265	5008	,	,		17304	0.2837		0.4483	False		,,,				2504	0.4479				GBM(164;1247 1997 8702 11086 51972)	.											0								C		706,3700	294.7+/-283.3	60,586,1557	90	73	79		1948	1.7	1	17	dbSNP_89	79	4305,4295	576.8+/-390.4	1079,2147,1074	no	coding-synonymous	FMNL1	NM_005892.3		1139,2733,2631	TT,TC,CC		49.9419,16.0236,38.5284		650/1101	43319770	5011,7995	2203	4300	6503	SO:0001819	synonymous_variant	752			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.1948C>T	17.37:g.43319770C>T			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	CCDS11497.1																																																																																				0.602	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		T	43319770	C	T	43319770	2	4	17	1	0	0	0	0	0	0	0	1	5951	564	20	4		4	FMNL1	17	43319770	Silent	SNP	C	TCGA-KL-8339-01A-11D-2310-10	16378605	43319770	37875440	84	1288											
USP14	9097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	211193	211193	+	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	aacaccagaagatatcttacGgctttctggtggtggagact	11	11	11	8	1	2	3	0	0	2	3	2	4	2	3	1	4	2	1	1	4	4	3	rs554797989		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:211193G>T	ENST00000261601.7	+	16	1485	c.1394G>T	c.(1393-1395)cGg>cTg	p.R465L	USP14_ENST00000383589.2_Missense_Mutation_p.R419L|USP14_ENST00000582707.1_Missense_Mutation_p.R430L|USP14_ENST00000400266.3_Missense_Mutation_p.R454L	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	465	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GATATCTTACGGCTTTCTGGT	0.393																																						.											0													122	105	111					18																	211193		2203	4300	6503	SO:0001583	missense	9097			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1394G>T	18.37:g.211193G>T	ENSP00000261601:p.Arg465Leu		J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791266	0.90367	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.30981	1.51;1.51	6.03	6.03	0.97812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.103869	0.64402	D	0.000007	T	0.57681	0.2070	M	0.81942	2.565	0.80722	D	1	P;P;P	0.51933	0.879;0.825;0.949	P;P;P	0.58721	0.642;0.647;0.844	T	0.58358	-0.7650	10	0.66056	D	0.02	-17.2505	20.5568	0.99304	0.0:0.0:1.0:0.0	.	454;430;465	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	L	465;430;454	ENSP00000261601:R465L;ENSP00000383125:R454L	ENSP00000261601:R465L	R	+	2	0	USP14	201193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.135000	0.71696	2.861000	0.98227	0.655000	0.94253	CGG		0.393	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		T	211193	G	T	211193	3	4	17	1	0	0	0	0	1	0	0	0	17042	1116	39	5	1456	5	USP14	18	211193	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		211193	77866055	85	1289											
APCDD1	147495	broad.mit.edu;mdanderson.org	37	chr18	10485688	10485688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactcagacccggtgtgcaAgcaccccaccttctccatct	8	9	6	18	1	3	1	1	0	2	1	4	1	3	1	5	1	3	2	5	1	2	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:10485688A>G	ENST00000355285.5	+	4	1358	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCGGTGTGCAAGCACCCCACC	0.607																																						.											0													85	62	70					18																	10485688		2203	4300	6503	SO:0001583	missense	147495			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1004A>G	18.37:g.10485688A>G	ENSP00000347433:p.Lys335Arg			Missense_Mutation	SNP	ENST00000355285.5	37	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747738	0.30955	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.17054	2.3	4.77	4.77	0.60923	.	0.096491	0.64402	D	0.000001	T	0.10035	0.0246	N	0.20483	0.58	0.80722	D	1	B	0.10296	0.003	B	0.15870	0.014	T	0.06006	-1.0851	10	0.02654	T	1	-48.6664	13.6296	0.62188	1.0:0.0:0.0:0.0	.	335	Q8J025	APCD1_HUMAN	R	335;386	ENSP00000347433:K335R	ENSP00000347433:K335R	K	+	2	0	APCDD1	10475688	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.455000	0.60075	2.013000	0.59113	0.459000	0.35465	AAG		0.607	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		G	10485688	A	G	10485688	3	3	17	1	0	0	0	0	1	0	0	0	765	72	3	2	1018	2	APCDD1	18	10485688	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	10274495	10485688	67591560	86	1290											
SERPINB8	5271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	61654433	61654433	+	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	aatggagccaagattctgtgCagaccacccttttcttttct	9	14	7	11	0	3	2	0	0	3	2	3	3	3	3	3	1	2	1	3	1	2	5			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:61654433C>A	ENST00000397985.2	+	7	1302	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.A167E|SERPINB8_ENST00000353706.2_Missense_Mutation_p.A349E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	349					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)				AGATTCTGTGCAGACCACCCT	0.512																																						.											0													96	94	95					18																	61654433		2203	4300	6503	SO:0001583	missense	5271			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.1046C>A	18.37:g.61654433C>A	ENSP00000381072:p.Ala349Glu		B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812074	0.70797	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.85702	-2.02;-2.02;2.4	5.65	4.74	0.60224	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.203488	0.51477	D	0.000086	D	0.94364	0.8188	H	0.97611	4.04	0.58432	D	0.999993	D	0.76494	0.999	D	0.78314	0.991	D	0.94705	0.7887	10	0.87932	D	0	.	9.2896	0.37778	0.0:0.8315:0.0:0.1685	.	349	P50452	SPB8_HUMAN	E	349;349;167	ENSP00000381072:A349E;ENSP00000331368:A349E;ENSP00000438328:A167E	ENSP00000331368:A349E	A	+	2	0	SERPINB8	59805413	0.998000	0.40836	1.000000	0.80357	0.590000	0.36582	3.061000	0.49963	1.534000	0.49203	-0.345000	0.07892	GCA		0.512	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		A	61654433	C	A	61654433	3	1	17	1	0	0	0	0	1	0	0	0	14107	710	25	5	1081	5	SERPINB8	18	61654433	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	51168745	61654433	16422815	87	1291											
FUT3	2525	mdanderson.org	37	chr19	5843877	5843877	+	Missense_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	tgaaggagcgaggccgcagcGtctcccgccagcgaaagtag	10	4	15	12	5	1	1	0	1	1	0	2	4	1	2	3	2	3	2	3	2	3	1	rs28381969	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:5843877G>A	ENST00000303225.6	-	3	1608	c.974C>T	c.(973-975)aCg>aTg	p.T325M	FUT3_ENST00000589918.1_Missense_Mutation_p.T325M|FUT3_ENST00000589620.1_Missense_Mutation_p.T325M|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.T325M	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	325			T -> M (in dbSNP:rs28381969). {ECO:0000269|Ref.5}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGCCGCAGCGTCTCCCGCCA	0.637													G|||	37	0.00738818	0.025	0.0043	5008	,	,		19604	0.001		0	False		,,,				2504	0				Esophageal Squamous(82;745 1728 24593 44831)	.											0													42	45	44					19																	5843877		2203	4300	6503	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.974C>T	19.37:g.5843877G>A	ENSP00000305603:p.Thr325Met		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	36	0.016483516483516484	18	0.036585365853658534	1	0.0027624309392265192	6	0.01048951048951049	11	0.014511873350923483	G	12.11	1.838692	0.32513	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.24350	1.86;1.86	2.29	1.18	0.20946	.	0.943966	0.08680	N	0.909636	T	0.07413	0.0187	M	0.79805	2.47	0.09310	N	1	P;P;P;P	0.38617	0.64;0.483;0.483;0.483	B;B;B;B	0.36186	0.219;0.148;0.148;0.148	T	0.11494	-1.0585	10	0.37606	T	0.19	.	5.4124	0.16356	0.1897:0.0:0.8103:0.0	rs28381969	325;325;325;325	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	M	325	ENSP00000305603:T325M;ENSP00000416443:T325M	ENSP00000305603:T325M	T	-	2	0	FUT3	5794877	0.000000	0.05858	0.620000	0.29132	0.507000	0.33981	-1.150000	0.03178	0.242000	0.21303	0.194000	0.17425	ACG		0.637	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5843877	G	A	5843877	3	1	17	1	0	0	0	0	1	0	0	0	6105	1145	40	1	115	1	FUT3	19	5843877	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		5843877	53285106	88	1292											
ZNF208	7757	mdanderson.org	37	chr19	22156850	22156850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaattgccttatgtgtaAtaagggttgagaccttactg	11	14	10	6	0	0	2	0	2	0	1	0	3	0	2	2	1	2	2	2	1	5	6	rs199858837		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:22156850A>G	ENST00000397126.4	-	4	1134	c.986T>C	c.(985-987)aTt>aCt	p.I329T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	329					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)				CTTATGTGTAATAAGGGTTGA	0.393																																						.											0													62	63	63					19																	22156850		1996	4092	6088	SO:0001583	missense	7757			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.986T>C	19.37:g.22156850A>G	ENSP00000380315:p.Ile329Thr			Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.776923	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.37584	1.19	2.93	-5.86	0.02304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13457	0.0326	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.06320	-1.0833	8	0.07030	T	0.85	.	5.0767	0.14634	0.3245:0.0:0.3073:0.3682	.	329	O43345	ZN208_HUMAN	T	329	ENSP00000380315:I329T	ENSP00000380315:I329T	I	-	2	0	ZNF208	21948690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.811000	0.00755	-4.922000	0.00027	-4.087000	0.00011	ATT		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22156850	A	G	22156850	3	3	17	1	0	0	0	0	1	0	0	0	17763	101	4	4	2860	4	ZNF208	19	22156850	Missense_Mutation	SNP	A	TCGA-KL-8339-01A-11D-2310-10	16312973	22156850	36972133	89	1293											
FCGBP	8857	mdanderson.org	37	chr19	40376927	40376927	+	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	ccggcgggcaggtgggcggcGgcaggcagggagagtcgggc	5	2	24	10	5	0	1	0	0	0	1	1	2	0	1	1	9	0	3	1	9	0	0	rs146581881		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:40376927G>A	ENST00000221347.6	-	24	11502	c.11495C>T	c.(11494-11496)cCg>cTg	p.P3832L	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3832	VWFD 9. {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)			GGTGGGCGGCGGCAGGCAGGG	0.647																																						.											0								G	LEU/PRO	3,4323		1,1,2161	17	19	18		11495	0.9	0	19	dbSNP_134	18	0,8552		0,0,4276	no	missense	FCGBP	NM_003890.2	98	1,1,6437	AA,AG,GG		0.0,0.0693,0.0233	possibly-damaging	3832/5406	40376927	3,12875	2163	4276	6439	SO:0001583	missense	8857			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.11495C>T	19.37:g.40376927G>A	ENSP00000221347:p.Pro3832Leu		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	g	12.14	1.850084	0.32699	6.93E-4	0.0	ENSG00000090920	ENST00000221347	T	0.18502	2.21	3.33	0.901	0.19284	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.11793	0.0287	L	0.60845	1.875	0.09310	N	1	P	0.43352	0.804	B	0.27262	0.078	T	0.19451	-1.0305	9	0.33141	T	0.24	.	6.7765	0.23622	0.0:0.3655:0.4479:0.1865	.	3832	Q9Y6R7	FCGBP_HUMAN	L	3832	ENSP00000221347:P3832L	ENSP00000221347:P3832L	P	-	2	0	FCGBP	45068767	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.229000	0.17833	0.137000	0.18759	0.313000	0.20887	CCG		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40376927	G	A	40376927	3	1	17	1	0	0	0	0	1	0	0	0	5778	1116	39	1	4774	1	FCGBP	19	40376927	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10	18220077	40376927	18752056	90	1294											
PVRL2	5819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	45368669	45368669	+	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	gcagcgcccagatgcacctgCgaaccaccagaatgtggccg	10	4	12	15	3	0	2	0	0	0	2	0	3	0	2	5	1	4	2	5	1	2	0	rs111808500		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:45368669C>T	ENST00000252483.5	+	2	230	c.230C>T	c.(229-231)gCg>gTg	p.A77V	PVRL2_ENST00000252485.4_Missense_Mutation_p.A77V	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	77	Ig-like V-type.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|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)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GATGCACCTGCGAACCACCAG	0.662																																						.											0								T	VAL/ALA,VAL/ALA	0,4406		0,0,2203	71	60	64		230,230	-5.8	0	19	dbSNP_132	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PVRL2	NM_001042724.1,NM_002856.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	77/539,77/480	45368669	1,13005	2203	4300	6503	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.230C>T	19.37:g.45368669C>T	ENSP00000252483:p.Ala77Val		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	c	10.27	1.304881	0.23736	0.0	1.16E-4	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.66280	-0.2;-0.2	4.33	-5.77	0.02369	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.585450	0.03789	N	0.262576	T	0.32585	0.0834	N	0.08118	0	0.09310	N	1	B;B	0.24043	0.067;0.096	B;B	0.16289	0.015;0.013	T	0.06734	-1.0810	10	0.40728	T	0.16	.	0.3328	0.00321	0.2868:0.2892:0.1884:0.2357	.	77;77	Q92692;Q92692-2	PVRL2_HUMAN;.	V	77	ENSP00000252483:A77V;ENSP00000252485:A77V	ENSP00000252483:A77V	A	+	2	0	PVRL2	50060509	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.589000	0.05767	-1.068000	0.03156	-1.385000	0.01166	GCG		0.662	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		T	45368669	C	T	45368669	3	4	17	1	0	0	0	0	1	0	0	0	12840	768	27	1	236	1	PVRL2	19	45368669	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	4991742	45368669	13760314	91	1295											
NOVA2	4858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	46443970	46443970	+	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	acgttggcgtagctgatgttGaggcagctgctgctctgggg	5	11	17	8	2	1	2	0	2	1	0	1	2	1	2	0	4	4	8	0	4	1	3			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:46443970G>A	ENST00000263257.5	-	4	824	c.630C>T	c.(628-630)ctC>ctT	p.L210L		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	210					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		AGCTGATGTTGAGGCAGCTGC	0.687																																						.											0													60	32	42					19																	46443970		2168	4243	6411	SO:0001819	synonymous_variant	4858			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.630C>T	19.37:g.46443970G>A			O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	CCDS12679.1																																																																																				0.687	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		A	46443970	G	A	46443970	2	1	17	1	0	0	0	0	0	0	0	1	10555	1277	45	4		4	NOVA2	19	46443970	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	1075301	46443970	12685013	92	1296											
SIGLEC5	8778	mdanderson.org	37	chr19	52132741	52132741	+	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	tccgaggagcgggtggtctcGgggtccagggggctgagggc	4	6	22	9	3	1	1	0	1	1	0	4	3	3	2	2	8	1	1	2	8	0	0	rs200210701	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:52132741G>A	ENST00000534261.2	-	4	969	c.570C>T	c.(568-570)ccC>ccT	p.P190P	SIGLEC5_ENST00000599649.1_Silent_p.P190P|SIGLEC5_ENST00000429354.3_Silent_p.P190P|SIGLEC5_ENST00000570106.2_Silent_p.P190P|SIGLEC5_ENST00000222107.4_Silent_p.P190P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	190	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGGTGGTCTCGGGGTCCAGGG	0.652													G|||	61	0.0121805	0.0159	0.0014	5008	,	,		15292	0.0288		0.002	False		,,,				2504	0.0082					.											0													16	16	16					19																	52132741		2201	4290	6491	SO:0001819	synonymous_variant	8778			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.570C>T	19.37:g.52132741G>A				Silent	SNP	ENST00000534261.2	37	CCDS33088.1																																																																																				0.652	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		A	52132741	G	A	52132741	2	1	17	1	0	0	0	0	0	0	0	1	14311	1103	39	1		1	SIGLEC5	19	52132741	Silent	SNP	G	TCGA-KL-8339-01A-11D-2310-10	5688771	52132741	6996242	93	1297											
ZNF845	91664	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	53856300	53856300	+	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	tgggcgtgattcacacctggCacaacatactagaattcaca	13	9	8	11	1	2	2	2	1	0	1	2	2	2	2	1	2	2	1	1	2	4	4			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:53856300C>A	ENST00000595091.1	+	5	2591	c.2372C>A	c.(2371-2373)gCa>gAa	p.A791E	ZNF845_ENST00000458035.1_Missense_Mutation_p.A791E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	791					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						TCACACCTGGCACAACATACT	0.403																																						.											0													47	43	44					19																	53856300		692	1591	2283	SO:0001583	missense	91664			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.2372C>A	19.37:g.53856300C>A	ENSP00000470005:p.Ala791Glu			Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	3.789	-0.044051	0.07452	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07114	3.22	2.06	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.17631	0.505	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35425	-0.9789	9	0.32370	T	0.25	.	2.0734	0.03618	0.4102:0.2163:0.271:0.1025	.	791	Q96IR2	ZN845_HUMAN	E	791;707	ENSP00000388311:A791E	ENSP00000412086:A707E	A	+	2	0	ZNF845	58548112	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.320000	0.00131	-2.637000	0.00431	-0.512000	0.04463	GCA		0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		A	53856300	C	A	53856300	3	1	17	1	0	0	0	0	1	0	0	0	18188	710	25	5	2382	5	ZNF845	19	53856300	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	1723559	53856300	5272683	94	1298											
LILRA2	11027	mdanderson.org	37	chr19	55086949	55086949	+	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	tcccacgggggccagtacagAtgctacagtgcacacaacct	11	6	10	14	1	0	1	0	0	0	1	1	1	1	1	3	2	5	3	3	2	3	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:55086949A>G	ENST00000251377.3	+	6	1015	c.882A>G	c.(880-882)agA>agG	p.R294R	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.R294R|LILRA2_ENST00000391737.1_Silent_p.R282R|LILRA2_ENST00000391738.3_Silent_p.R294R|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	294	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCCAGTACAGATGCTACAGTG	0.662																																						.											0													50	52	51					19																	55086949		2203	4299	6502	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.882A>G	19.37:g.55086949A>G			O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.662	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			G	55086949	A	G	55086949	2	3	17	1	0	0	0	0	0	0	0	1	8785	330	12	4		4	LILRA2	19	55086949	Silent	SNP	A	TCGA-KL-8339-01A-11D-2310-10	1230649	55086949	4042034	95	1299											
ZNF329	79673	mdanderson.org;bcgsc.ca	37	chr19	58639916	58639916	+	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	agtgaagggtttcccacattCgttacatctatatggttttt	9	17	8	7	1	1	1	0	1	1	0	3	1	2	1	1	2	1	3	1	2	4	7			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:58639916C>A	ENST00000598312.1	-	4	1188	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	ZNF329_ENST00000358067.4_Nonsense_Mutation_p.E319*	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTCCCACATTCGTTACATCTA	0.428																																						.											0													132	127	129					19																	58639916		2203	4300	6503	SO:0001587	stop_gained	79673			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.955G>T	19.37:g.58639916C>A	ENSP00000470008:p.Glu319*		B3KR32|Q9H9R7	Nonsense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431607	0.62844	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	.	.	.	4.01	4.01	0.46588	.	0.000000	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.6342	16.1129	0.81275	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000350773:E319X	E	-	1	0	ZNF329	63331728	0.004000	0.15560	0.999000	0.59377	0.134000	0.20937	0.644000	0.24766	2.541000	0.85698	0.655000	0.94253	GAA		0.428	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		A	58639916	C	A	58639916	4	1	17	1	0	0	0	0	0	1	0	0	17844	893	31	5	674	5	ZNF329	19	58639916	Nonsense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10	3552967	58639916	489067	96	1300											
FAM83D	81610	mdanderson.org	37	chr20	37555116	37555116	+	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	tgtccgagggcctggacgagGtgcccgccgcctgcctgtcg	3	7	16	15	5	0	0	0	0	0	0	2	3	1	1	6	3	2	0	6	3	0	0	rs3752290	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr20:37555116G>C	ENST00000217429.4	+	1	162	c.121G>C	c.(121-123)Gtg>Ctg	p.V41L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	11					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCTGGACGAGGTGCCCGCCGC	0.701													C|||	2010	0.401358	0.5076	0.3847	5008	,	,		10968	0.4157		0.3429	False		,,,				2504	0.3149					.											0								C	LEU/VAL	1601,2097		394,813,642	8	11	10		121	3.4	0.9	20	dbSNP_107	10	2399,5669		370,1659,2005	no	missense	FAM83D	NM_030919.2	32	764,2472,2647	CC,CG,GG		29.7348,43.2937,33.9963	benign	41/616	37555116	4000,7766	1849	4034	5883	SO:0001583	missense	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.121G>C	20.37:g.37555116G>C	ENSP00000217429:p.Val41Leu		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	870	0.3983516483516483	269	0.5467479674796748	136	0.3756906077348066	202	0.3531468531468531	263	0.3469656992084433	C	0.704	-0.789777	0.02884	0.432937	0.297348	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10477	2.87	5.48	3.44	0.39384	.	0.490125	0.16258	N	0.222396	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38757	-0.9646	9	0.06891	T	0.86	.	7.0157	0.24887	0.0:0.4204:0.417:0.1626	rs3752290;rs17846649;rs17859744;rs3752290	11;11	Q9H4H8;Q9H4H8-2	FA83D_HUMAN;.	L	41;11	ENSP00000217429:V41L	ENSP00000217429:V41L	V	+	1	0	FAM83D	36988530	0.003000	0.15002	0.905000	0.35620	0.017000	0.09413	0.278000	0.18753	0.696000	0.31696	-0.120000	0.15030	GTG		0.701	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			C	37555116	G	C	37555116	3	2	17	1	0	0	0	0	1	0	0	0	5636	1261	44	5	123	5	FAM83D	20	37555116	Missense_Mutation	SNP	G	TCGA-KL-8339-01A-11D-2310-10		37555116	25470404	97	1301											
GTPBP5	26164	broad.mit.edu	37	chr20	60774224	60774225	+	Frame_Shift_Ins	INS	-	-	C																															ctgctccgggccatttcaaaINScgccagacccgccgtggctt																										TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr20:60774224_60774225insC	ENST00000370823.3	+	6	755_756	c.737_738insC	c.(736-741)aacgccfs	p.A247fs	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_Frame_Shift_Ins_p.A19fs	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	247	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				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)|magnesium ion binding (GO:0000287)										GCCATTTCAAACGCCAGACCCG	0.614																																						.											0																																										SO:0001589	frameshift_variant	26164			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.738dupC	20.37:g.60774225_60774225dupC	ENSP00000359859:p.Ala247fs		A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Frame_Shift_Ins	INS	ENST00000370823.3	37	CCDS13492.1																																																																																				0.614	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		C	60774225	-	C	60774224	7	5	17	1	0	1	1	0	0	0	0	0	6883	43	2	0	755	0	GTPBP5	20	60774224	Frame_Shift_Ins	INS	-	TCGA-KL-8339-01A-11D-2310-10	23219108	60774224	2251296	98	1302											
NIPSNAP1	8508	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr22	29956774	29956774	+	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	tatctgtgagaagaagccgcCcactgcctcctggttctcct	7	11	9	14	1	2	2	0	1	2	2	4	3	3	2	5	1	2	1	5	1	3	2			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr22:29956774C>T	ENST00000216121.7	-	8	909	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	219					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						AAGAAGCCGCCCACTGCCTCC	0.562																																						.											1	Unknown(1)	lung(1)											126	122	123					22																	29956774		2203	4300	6503	SO:0001583	missense	8508			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.655G>A	22.37:g.29956774C>T	ENSP00000216121:p.Gly219Ser		B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553847	0.96501	.	.	ENSG00000184117	ENST00000216121	T	0.71698	-0.59	4.91	4.91	0.64330	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.93854	3.465	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.79108	0.992;0.954	D	0.90843	0.4725	10	0.66056	D	0.02	-0.3221	18.245	0.89982	0.0:1.0:0.0:0.0	.	199;219	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	S	219	ENSP00000216121:G219S	ENSP00000216121:G219S	G	-	1	0	NIPSNAP1	28286774	1.000000	0.71417	0.902000	0.35471	0.980000	0.70556	7.341000	0.79300	2.716000	0.92895	0.561000	0.74099	GGC		0.562	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			T	29956774	C	T	29956774	3	4	17	1	0	0	0	0	1	0	0	0	10429	623	22	3	211	3	NIPSNAP1	22	29956774	Missense_Mutation	SNP	C	TCGA-KL-8339-01A-11D-2310-10		29956774	21347792	99	1303											
ELAVL4	1996	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	50659551	50659551	+	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	aacttttctcgcaatacggcCgtatcatcacctcacgaatc	11	11	5	14	4	4	0	3	0	1	0	6	1	4	0	2	1	2	2	2	1	5	4	rs138779266		TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr1:50659551C>T	ENST00000371823.4	+	4	693	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	ELAVL4_ENST00000371819.1_Missense_Mutation_p.R162C|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R174C|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R160C|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R162C|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R157C|ELAVL4_ENST00000371824.1_Missense_Mutation_p.R157C	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	157	RRM 2. {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						GCAATACGGCCGTATCATCAC	0.453																																						.											0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	191	166	174		469,520,469,478,469	6.1	1	1	dbSNP_134	174	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ELAVL4	NM_001144774.1,NM_001144775.1,NM_001144776.1,NM_001144777.1,NM_021952.3	180,180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	157/367,174/384,157/367,160/370,157/381	50659551	1,13005	2203	4300	6503	SO:0001583	missense	1996			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.469C>T	1.37:g.50659551C>T	ENSP00000360888:p.Arg157Cys		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838760	0.91117	2.27E-4	0.0	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999;0.998;0.998	P;D;P;P;P;P;P	0.72075	0.887;0.976;0.787;0.887;0.819;0.819;0.887	T	0.02574	-1.1139	10	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	162;162;157;157;174;157;160	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	C	160;157;174;157;157;162;162	ENSP00000399939:R160C;ENSP00000360892:R157C;ENSP00000349594:R174C;ENSP00000360889:R157C;ENSP00000360888:R157C;ENSP00000360886:R162C;ENSP00000360884:R162C	ENSP00000349594:R174C	R	+	1	0	ELAVL4	50432138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.906000	0.99361	0.655000	0.94253	CGT		0.453	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		T	50659551	C	T	50659551	3	4	18	1	0	0	0	0	1	0	0	0	5052	652	23	1	582	1	ELAVL4	1	50659551	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10		50659551	198591070	1	1304											
MEIS1	4211	broad.mit.edu	37	chr2	66667033	66667033	+	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	aatgtgaattagctacttgtAccccccgcgagccgggggtg	8	9	13	11	3	0	1	0	1	0	0	0	2	0	1	4	2	4	2	4	2	5	4			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:66667033A>C	ENST00000272369.9	+	3	755	c.298A>C	c.(298-300)Acc>Ccc	p.T100P	MEIS1_ENST00000407092.2_Missense_Mutation_p.T100P|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000488550.1_Missense_Mutation_p.T100P|MEIS1_ENST00000398506.2_Missense_Mutation_p.T98P|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000495021.2_Missense_Mutation_p.T35P|MEIS1_ENST00000444274.2_Missense_Mutation_p.T68P|MEIS1_ENST00000560281.2_Missense_Mutation_p.T100P	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	100					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGCTACTTGTACCCCCCGCGA	0.483																																						.											0													64	58	60					2																	66667033		1809	4073	5882	SO:0001583	missense	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.298A>C	2.37:g.66667033A>C	ENSP00000272369:p.Thr100Pro		A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749006	0.89753	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.38	5.38	0.77491	.	0.104975	0.64402	D	0.000006	T	0.46386	0.1390	M	0.68593	2.085	0.58432	D	0.999998	P;B;P;P	0.52316	0.952;0.255;0.865;0.554	P;P;P;P	0.52909	0.713;0.454;0.501;0.454	T	0.49551	-0.8928	10	0.87932	D	0	.	15.2365	0.73436	1.0:0.0:0.0:0.0	.	35;98;100;100	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	P	100;100;98;68;35	ENSP00000272369:T100P;ENSP00000384461:T100P;ENSP00000381518:T98P;ENSP00000403206:T68P;ENSP00000440571:T35P	ENSP00000272369:T100P	T	+	1	0	MEIS1	66520537	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.105000	0.94246	2.254000	0.74563	0.533000	0.62120	ACC		0.483	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		C	66667033	A	C	66667033	3	2	18	1	0	0	0	0	1	0	0	0	9467	391	14	5	308	5	MEIS1	2	66667033	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10		66667033	176532340	2	1305											
ZNF638	27332	broad.mit.edu	37	chr2	71653715	71653715	+	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	aaagaaactctcaaaaatgtTcctttctctgaacttaactt	15	14	3	9	0	2	2	1	1	2	1	5	2	3	2	1	0	3	1	1	0	6	4			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:71653715T>A	ENST00000409544.1	+	24	5346	c.4716T>A	c.(4714-4716)gtT>gtA	p.V1572V	ZNF638_ENST00000264447.4_Silent_p.V1572V|ZNF638_ENST00000409407.1_Silent_p.V512V|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1572					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						TCAAAAATGTTCCTTTCTCTG	0.393																																						.											0													84	84	84					2																	71653715		2203	4300	6503	SO:0001819	synonymous_variant	27332			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.4716T>A	2.37:g.71653715T>A			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	CCDS1917.1																																																																																				0.393	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71653715	T	A	71653715	2	1	18	1	0	0	0	0	0	0	0	1	18052	1770	62	5		5	ZNF638	2	71653715	Silent	SNP	T	TCGA-KL-8340-01A-11D-2310-10	4986682	71653715	171545658	3	1306											
SLC4A5	57835	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	74454137	74454137	+	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	tttgaggatccagagcaccgCcaggcagaggatctgcacca	11	6	12	12	1	1	3	0	1	1	2	2	5	2	5	4	3	2	3	4	3	0	1			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:74454137C>T	ENST00000377634.4	-	28	3484	c.3085G>A	c.(3085-3087)Gcg>Acg	p.A1029T	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.A1013T|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A1029T|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A911T|SLC4A5_ENST00000377632.1_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A911T|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G953D					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGAGCACCGCCAGGCAGAGG	0.647																																						.											0													72	74	74					2																	74454137		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3085G>A	2.37:g.74454137C>T	ENSP00000366861:p.Ala1029Thr			Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.528596|4.528596	0.85706|0.85706	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377634|ENST00000423644;ENST00000425249	T;T;T;T;T|T;T	0.70399|0.72394	-0.48;-0.48;-0.48;-0.48;-0.48|-0.65;-0.38	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74382|0.74382	0.3709|0.3709	M|M	0.68952|0.68952	2.095|2.095	0.36027|0.36027	D|D	0.839141|0.839141	P;D;D|P	0.89917|0.50272	0.939;1.0;0.973|0.933	P;D;P|P	0.87578|0.46479	0.857;0.998;0.843|0.518	T|T	0.82822|0.82822	-0.0267|-0.0267	10|9	0.62326|0.87932	D|D	0.03|0	.|.	16.3639|16.3639	0.83307|0.83307	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	911;1029;1013|915	Q9BY07-7;Q9BY07;Q9BY07-3|E7EQT3	.;S4A5_HUMAN;.|.	T|D	1013;1029;911;911;1029;1029|953;915	ENSP00000377587:A1013T;ENSP00000352461:A911T;ENSP00000351513:A911T;ENSP00000350475:A1029T;ENSP00000366861:A1029T|ENSP00000395804:G953D;ENSP00000405678:G915D	ENSP00000350475:A1029T|ENSP00000395804:G953D	A|G	-|-	1|2	0|0	SLC4A5|SLC4A5	74307645|74307645	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	5.920000|5.920000	0.70017|0.70017	2.726000|2.726000	0.93360|0.93360	0.637000|0.637000	0.83480|0.83480	GCG|GGC		0.647	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			T	74454137	C	T	74454137	3	4	18	1	0	0	0	0	1	0	0	0	14657	739	26	3	344	3	SLC4A5	2	74454137	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	2800422	74454137	168745236	4	1307											
NCAPH	23397	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr2	97032995	97032995	+	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	ttgtcatatacctatttcagGtaaataaaattgaaattcac	16	15	4	6	0	3	1	3	1	0	0	3	1	3	1	1	1	1	1	1	1	8	9			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:97032995G>C	ENST00000240423.4	+	15	1925	c.1882G>C	c.(1882-1884)Gta>Cta	p.V628L	NCAPH_ENST00000427946.1_Splice_Site_p.V492L|NCAPH_ENST00000455200.1_Splice_Site_p.V617L	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	628					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)				CCTATTTCAGGTAAATAAAAT	0.363																																						.											0													71	80	77					2																	97032995		2203	4300	6503	SO:0001630	splice_region_variant	23397			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.1882-1G>C	2.37:g.97032995G>C			B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.522702|4.522702	0.85600|0.85600	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000435349|ENST00000240423;ENST00000427946;ENST00000455200	.|T;T;T	.|0.57107	.|0.42;0.42;0.42	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.054577	.|0.64402	.|D	.|0.000001	T|T	0.67277|0.67277	0.2876|0.2876	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52692	.|0.955;0.906	.|P;P	.|0.54060	.|0.741;0.576	T|T	0.66881|0.66881	-0.5811|-0.5811	5|9	.|.	.|.	.|.	-16.8261|-16.8261	17.697|17.697	0.88285|0.88285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|604;628	.|B4DRG7;Q15003	.|.;CND2_HUMAN	A|L	68|628;492;617	.|ENSP00000240423:V628L;ENSP00000400774:V492L;ENSP00000407308:V617L	.|.	G|V	+|+	2|1	0|0	NCAPH|NCAPH	96396722|96396722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.890000|5.890000	0.69774|0.69774	2.785000|2.785000	0.95823|0.95823	0.650000|0.650000	0.86243|0.86243	GGT|GTA		0.363	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	Missense_Mutation	C	97032995	G	C	97032995	5	2	18	1	0	0	0	0	0	0	1	0	10209	1275	44	5	1940	5	NCAPH	2	97032995	Splice_Site	SNP	G	TCGA-KL-8340-01A-11D-2310-10	22578858	97032995	146166378	5	1308											
SLC39A10	57181	hgsc.bcm.edu;bcgsc.ca	37	chr2	196548601	196548601	+	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	taaggataaaaacctggttcCtgaagatgaggcaaatatag	17	9	10	5	0	0	3	0	2	0	1	1	4	1	4	2	3	1	2	2	3	8	5			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr2:196548601C>T	ENST00000409086.3	+	3	1462	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	SLC39A10_ENST00000359634.5_Missense_Mutation_p.P396L|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	396					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)			AACCTGGTTCCTGAAGATGAG	0.318																																						.											0													57	62	60					2																	196548601		2203	4300	6503	SO:0001583	missense	57181				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.1187C>T	2.37:g.196548601C>T	ENSP00000386766:p.Pro396Leu		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630975	0.28978	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.67345	-0.26;-0.26	4.84	4.84	0.62591	.	1.226200	0.05271	N	0.517580	T	0.58694	0.2140	L	0.39898	1.24	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52238	-0.8602	10	0.34782	T	0.22	.	6.9824	0.24709	0.0:0.8523:0.0:0.1477	.	396	Q9ULF5	S39AA_HUMAN	L	396	ENSP00000386766:P396L;ENSP00000352655:P396L	ENSP00000352655:P396L	P	+	2	0	SLC39A10	196256846	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	2.752000	0.47516	2.511000	0.84671	0.650000	0.86243	CCT		0.318	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		T	196548601	C	T	196548601	3	4	18	1	0	0	0	0	1	0	0	0	14613	681	24	4	1193	4	SLC39A10	2	196548601	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	99515606	196548601	46650772	6	1309											
LMCD1	29995	ucsc.edu;mdanderson.org	37	chr3	8579024	8579024	+	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	gacggcatccggatttacaaGaggaaccggatgatcatgac	13	7	12	9	3	1	3	1	2	0	1	2	7	2	6	2	4	2	1	2	4	3	2			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:8579024G>A	ENST00000157600.3	+	3	517	c.285G>A	c.(283-285)aaG>aaA	p.K95K	LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Silent_p.K22K|LMCD1_ENST00000535732.1_Silent_p.K95K|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	95					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGATTTACAAGAGGAACCGGA	0.537																																						.											0													137	142	140					3																	8579024		2203	4300	6503	SO:0001819	synonymous_variant	29995			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.285G>A	3.37:g.8579024G>A			B4DG80	Silent	SNP	ENST00000157600.3	37	CCDS33688.1																																																																																				0.537	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		A	8579024	G	A	8579024	2	1	18	1	0	0	0	0	0	0	0	1	8844	933	33	4		4	LMCD1	3	8579024	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10		8579024	189443406	7	1310											
CELSR3	1951	mdanderson.org	37	chr3	48694147	48694147	+	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	tcaccggtgaagcgcgggcgGcagacgcacgtgtagcctcc	7	5	15	14	6	1	2	1	1	0	1	2	2	2	2	3	3	2	3	3	3	2	1	rs2286651	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:48694147G>A	ENST00000164024.4	-	2	4663	c.4383C>T	c.(4381-4383)tgC>tgT	p.C1461C	CELSR3_ENST00000544264.1_Silent_p.C1461C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1461	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCGCGGGCGGCAGACGCACG	0.697													G|||	499	0.0996406	0.1263	0.0793	5008	,	,		14276	0.1171		0.1183	False		,,,				2504	0.0409					.											0								G		542,3786		27,488,1649	9	8	9		4383	4.9	1	3	dbSNP_100	9	931,7547		56,819,3364	no	coding-synonymous	CELSR3	NM_001407.2		83,1307,5013	AA,AG,GG		10.9814,12.5231,11.5024		1461/3313	48694147	1473,11333	2164	4239	6403	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4383C>T	3.37:g.48694147G>A			O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.697	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48694147	G	A	48694147	2	1	18	1	0	0	0	0	0	0	0	1	3223	1195	42	3		3	CELSR3	3	48694147	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10	40115123	48694147	149328283	8	1311											
FILIP1L	11259	bcgsc.ca	37	chr3	99568907	99568907	+	Missense_Mutation	SNP	T	T	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	ttttagtttcctcaattaacTtctcagtaactgttgttact	9	20	4	8	0	2	0	2	0	1	0	4	0	3	0	1	0	3	4	1	0	5	8			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:99568907T>C	ENST00000354552.3	-	5	2083	c.1613A>G	c.(1612-1614)aAg>aGg	p.K538R	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.K298R|FILIP1L_ENST00000383694.2_Missense_Mutation_p.K298R|FILIP1L_ENST00000487087.1_Missense_Mutation_p.K114R|FILIP1L_ENST00000331335.5_Missense_Mutation_p.K538R|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	538						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTCAATTAACTTCTCAGTAAC	0.338																																						.											0													90	77	81					3																	99568907		1832	4089	5921	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1613A>G	3.37:g.99568907T>C	ENSP00000346560:p.Lys538Arg		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114546	0.56505	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.47177	0.85;1.58;1.45;0.85;1.45;1.56	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000039	T	0.53077	0.1774	M	0.79475	2.455	0.54753	D	0.999983	P;B	0.34615	0.459;0.33	B;B	0.34652	0.187;0.091	T	0.55958	-0.8058	10	0.48119	T	0.1	-18.1372	16.4622	0.84064	0.0:0.0:0.0:1.0	.	538;538	Q4L180-2;Q4L180	.;FIL1L_HUMAN	R	538;114;298;538;298;284;298	ENSP00000346560:K538R;ENSP00000417774:K114R;ENSP00000419642:K298R;ENSP00000327880:K538R;ENSP00000373192:K298R;ENSP00000419874:K298R	ENSP00000327880:K538R	K	-	2	0	FILIP1L	101051597	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.173000	0.58249	2.289000	0.77006	0.533000	0.62120	AAG		0.338	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		C	99568907	T	C	99568907	3	2	18	1	0	0	0	0	1	0	0	0	5895	1609	56	2	1823	2	FILIP1L	3	99568907	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	50874760	99568907	98453523	9	1312											
EEFSEC	60678	mdanderson.org	37	chr3	127872506	127872506	+	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	ggcatcacgctcgatctgggCttctcgtgcttctcggtgcc	3	12	12	14	4	4	0	1	0	3	0	7	1	4	0	1	3	2	4	1	3	0	2	rs11711710	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:127872506C>T	ENST00000254730.6	+	1	210	c.156C>T	c.(154-156)ggC>ggT	p.G52G	RUVBL1_ENST00000464873.1_5'UTR|EEFSEC_ENST00000483457.1_Silent_p.G52G	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	52	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						TCGATCTGGGCTTCTCGTGCT	0.726													C|||	682	0.136182	0.2315	0.134	5008	,	,		11740	0.0069		0.1143	False		,,,				2504	0.1646					.											0								C		880,3484		96,688,1398	11	14	13		156	4.3	1	3	dbSNP_120	13	1010,7520		57,896,3312	no	coding-synonymous	EEFSEC	NM_021937.3		153,1584,4710	TT,TC,CC		11.8406,20.165,14.658		52/597	127872506	1890,11004	2182	4265	6447	SO:0001819	synonymous_variant	60678				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.156C>T	3.37:g.127872506C>T			Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																				0.726	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		T	127872506	C	T	127872506	2	4	18	1	0	0	0	0	0	0	0	1	4931	784	28	4		4	EEFSEC	3	127872506	Silent	SNP	C	TCGA-KL-8340-01A-11D-2310-10	28303599	127872506	70149924	10	1313											
C3orf36	80111	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	133647421	133647421	+	Missense_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	tctgctcctcggggtgtggcGcggcccactcaggagcccct	3	8	14	16	3	2	0	1	0	1	0	4	1	3	1	4	5	2	1	4	5	0	0			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr3:133647421G>A	ENST00000408895.2	-	1	1235	c.227C>T	c.(226-228)gCg>gTg	p.A76V		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	76										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGGGTGTGGCGCGGCCCACTC	0.667																																						.											0													30	34	32					3																	133647421		2203	4300	6503	SO:0001583	missense	80111			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.227C>T	3.37:g.133647421G>A	ENSP00000386219:p.Ala76Val		Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	G	9.323	1.058484	0.19987	.	.	ENSG00000221972	ENST00000408895	.	.	.	1.69	-3.38	0.04883	.	.	.	.	.	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.24317	0.101	B	0.06405	0.002	T	0.11251	-1.0595	8	0.87932	D	0	.	3.5665	0.07901	0.3568:0.0:0.4466:0.1966	.	76	Q3SXR2	CC036_HUMAN	V	76	.	ENSP00000386219:A76V	A	-	2	0	C3orf36	135130111	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.783000	0.04638	-1.660000	0.01486	-0.823000	0.03104	GCG		0.667	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		A	133647421	G	A	133647421	3	1	18	1	0	0	0	0	1	0	0	0	2226	1087	38	1	274	1	C3orf36	3	133647421	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10	5774915	133647421	64375009	11	1314											
CENPC1	1060	hgsc.bcm.edu	37	chr4	68357934	68357934	+	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	tcttgtttctgggtcctttaCcctcgttggctgcaaaggat	5	16	10	10	1	2	0	0	0	2	0	4	1	3	1	2	3	2	4	2	3	2	5			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr4:68357934C>T	ENST00000273853.6	-	16	2729	c.2479G>A	c.(2479-2481)Gta>Ata	p.V827I		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	827					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.V827L(1)									GGGTCCTTTACCCTCGTTGGC	0.338																																						.											1	Substitution - Missense(1)	lung(1)											94	83	86					4																	68357934		1826	4089	5915	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2479G>A	4.37:g.68357934C>T	ENSP00000273853:p.Val827Ile		Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898264	0.33535	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.34	3.61	0.41365	Cupin, RmlC-type (1);	0.459555	0.20370	N	0.093673	T	0.28566	0.0707	L	0.31664	0.95	0.09310	N	0.999998	B	0.15141	0.012	B	0.15052	0.012	T	0.16041	-1.0416	9	0.31617	T	0.26	-5.9703	8.3069	0.32047	0.0:0.8169:0.0:0.1831	.	827	Q03188	CENPC_HUMAN	I	827	.	ENSP00000273853:V827I	V	-	1	0	CENPC1	68040529	0.708000	0.27876	0.312000	0.25196	0.994000	0.84299	1.086000	0.30853	0.747000	0.32809	0.563000	0.77884	GTA		0.338	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			T	68357934	C	T	68357934	3	4	18	1	0	0	0	0	1	0	0	0	3229	507	18	3	368	3	CENPC1	4	68357934	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10		68357934	122796342	12	1315											
KIAA0947	23379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	5464930	5464930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagagatttggggactcAgcaggattcaagcgggaaaa	14	7	14	6	1	3	1	3	0	0	1	3	5	3	4	0	4	2	1	0	4	4	2			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:5464930A>G	ENST00000296564.7	+	13	5705	c.5483A>G	c.(5482-5484)cAg>cGg	p.Q1828R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1828					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						TTGGGGACTCAGCAGGATTCA	0.498																																						.											0													39	42	41					5																	5464930		1989	4184	6173	SO:0001583	missense	23379																														ENST00000296564.7:c.5483A>G	5.37:g.5464930A>G	ENSP00000296564:p.Gln1828Arg		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	4.793	0.147435	0.09134	.	.	ENSG00000164151	ENST00000296564	T	0.11169	2.8	4.66	0.709	0.18150	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42155	-0.9468	9	0.29301	T	0.29	0.1943	6.0771	0.19921	0.5811:0.3301:0.0888:0.0	.	1828	Q9Y2F5	K0947_HUMAN	R	1828	ENSP00000296564:Q1828R	ENSP00000296564:Q1828R	Q	+	2	0	KIAA0947	5517930	0.000000	0.05858	0.003000	0.11579	0.332000	0.28634	0.673000	0.25203	-0.122000	0.11766	0.383000	0.25322	CAG		0.498	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			G	5464930	A	G	5464930	3	3	18	1	0	0	0	0	1	0	0	0	8202	188	7	2	5533	2	KIAA0947	5	5464930	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10		5464930	175450330	13	1316											
DDX4	54514	broad.mit.edu	37	chr5	55111195	55111195	+	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	ttgcctttagtacatacattCctggcttcagtggtagtaca	9	15	8	9	0	1	0	1	0	0	0	2	0	2	0	2	2	4	4	2	2	5	9	rs373207863		TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:55111195C>T	ENST00000505374.1	+	21	2133	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S	DDX4_ENST00000354991.5_Missense_Mutation_p.P647S|DDX4_ENST00000514278.2_Missense_Mutation_p.P661S|DDX4_ENST00000511853.1_Missense_Mutation_p.P532S|DDX4_ENST00000353507.5_Missense_Mutation_p.P647S	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	681					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACATACATTCCTGGCTTCAG	0.353																																						.											0								C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,4406		0,0,2203	142	137	138		1939,1981,1594,2041	4.6	1	5		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	DDX4	NM_001142549.1,NM_001166533.1,NM_001166534.1,NM_024415.2	74,74,74,74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	647/691,661/705,532/576,681/725	55111195	1,13005	2203	4300	6503	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.2041C>T	5.37:g.55111195C>T	ENSP00000424838:p.Pro681Ser		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953287	0.18431	0.0	1.16E-4	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	T;T;T;T;T	0.20598	2.08;2.08;2.06;2.08;2.08	5.42	4.55	0.56014	.	0.307172	0.29853	N	0.011023	T	0.13756	0.0333	N	0.10645	0.015	0.26273	N	0.978392	B;B;D	0.58620	0.004;0.009;0.983	B;B;P	0.53102	0.004;0.018;0.718	T	0.09292	-1.0681	10	0.10377	T	0.69	-12.868	6.8119	0.23809	0.3159:0.603:0.0:0.0811	.	532;647;681	E9PCD8;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	S	647;661;681;647;532	ENSP00000334167:P647S;ENSP00000425359:P661S;ENSP00000424838:P681S;ENSP00000347087:P647S;ENSP00000423123:P532S	ENSP00000334167:P647S	P	+	1	0	DDX4	55146952	0.218000	0.23608	0.965000	0.40720	0.783000	0.44284	0.283000	0.18846	1.271000	0.44313	0.563000	0.77884	CCT		0.353	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		T	55111195	C	T	55111195	3	4	18	1	0	0	0	0	1	0	0	0	4360	855	30	3	2160	3	DDX4	5	55111195	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	49646265	55111195	125804065	14	1317											
PCDHGA2	56113	broad.mit.edu;mdanderson.org	37	chr5	140720557	140720557	+	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	aggatccccgacatcctggcCgacctgggcagcctcgagcc	7	5	12	17	3	0	0	0	0	0	0	3	4	2	1	7	3	2	1	7	3	0	0			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:140720557C>T	ENST00000394576.2	+	1	2019	c.2019C>T	c.(2017-2019)gcC>gcT	p.A673A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	673	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)			ACATCCTGGCCGACCTGGGCA	0.687																																						.											0													55	64	61					5																	140720557		2203	4298	6501	SO:0001819	synonymous_variant	56113			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.2019C>T	5.37:g.140720557C>T			Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	CCDS47289.1																																																																																				0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		T	140720557	C	T	140720557	2	4	18	1	0	0	0	0	0	0	0	1	11554	639	23	1		1	PCDHGA2	5	140720557	Silent	SNP	C	TCGA-KL-8340-01A-11D-2310-10	85609362	140720557	40194703	15	1318											
PCDHGB1	56104	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	140731460	140731460	+	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	tcagcgccaacgtgagcctgCgcgtgttggtgggcgacctc	5	8	15	13	5	1	1	1	1	0	0	2	2	1	1	3	2	4	1	3	2	1	1			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:140731460C>T	ENST00000523390.1	+	1	1633	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	545	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(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)			CGTGAGCCTGCGCGTGTTGGT	0.706																																						.											0													42	52	49					5																	140731460		2137	4244	6381	SO:0001583	missense	56104			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.1633C>T	5.37:g.140731460C>T	ENSP00000429273:p.Arg545Cys		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.024200	0.35701	.	.	ENSG00000254221	ENST00000523390	T	0.54279	0.58	5.39	3.58	0.41010	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.54208	0.1844	M	0.87381	2.88	0.31152	N	0.705383	P;B	0.43750	0.816;0.452	B;B	0.37989	0.233;0.262	T	0.63037	-0.6726	9	0.56958	D	0.05	.	7.9252	0.29870	0.3979:0.5288:0.0:0.0733	.	545;545	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	C	545	ENSP00000429273:R545C	ENSP00000429273:R545C	R	+	1	0	PCDHGB1	140711644	0.002000	0.14202	1.000000	0.80357	0.801000	0.45260	-0.074000	0.11450	0.735000	0.32537	0.563000	0.77884	CGC		0.706	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		T	140731460	C	T	140731460	3	4	18	1	0	0	0	0	1	0	0	0	11562	768	27	1	1635	1	PCDHGB1	5	140731460	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	10903	140731460	40183800	16	1319											
PCDH12	51294	broad.mit.edu	37	chr5	141331089	141331089	+	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	tggcttggccaagtacttatTtcctcggtggtttggtttgg	4	17	13	7	1	0	0	0	0	0	0	2	0	1	0	2	6	1	4	2	6	3	6			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr5:141331089T>G	ENST00000231484.3	-	2	4157	c.2947A>C	c.(2947-2949)Aat>Cat	p.N983H	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	983					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)			AAGTACTTATTTCCTCGGTGG	0.557											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													111	101	105					5																	141331089		2203	4300	6503	SO:0001583	missense	51294			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.2947A>C	5.37:g.141331089T>G	ENSP00000231484:p.Asn983His	1663	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.006141	0.93287	.	.	ENSG00000113555	ENST00000231484	T	0.77098	-1.07	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	M	0.74881	2.28	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	D	0.88768	0.3262	10	0.87932	D	0	.	14.5959	0.68407	0.0:0.0:0.0:1.0	.	983	Q9NPG4	PCD12_HUMAN	H	983	ENSP00000231484:N983H	ENSP00000231484:N983H	N	-	1	0	PCDH12	141311273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	AAT		0.557	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		G	141331089	T	G	141331089	3	3	18	1	0	0	0	0	1	0	0	0	11510	1841	64	5	619	5	PCDH12	5	141331089	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	599629	141331089	39584171	17	1320											
PHACTR1	221692	broad.mit.edu;bcgsc.ca	37	chr6	12719071	12719071	+	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	aagattcttctacagtcaagGagctcaaggtaataaaataa	18	10	7	6	0	4	1	2	0	2	1	4	2	4	2	0	2	2	2	0	2	8	6			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:12719071G>A	ENST00000379350.1	+	2	224	c.95G>A	c.(94-96)gGa>gAa	p.G32E	PHACTR1_ENST00000379348.2_Missense_Mutation_p.G32E|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G32E			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	32					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TACAGTCAAGGAGCTCAAGGT	0.388																																						.											0													30	28	28					6																	12719071		1822	4076	5898	SO:0001583	missense	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.95G>A	6.37:g.12719071G>A	ENSP00000368655:p.Gly32Glu		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37		.	.	.	.	.	.	.	.	.	.	G	23.8	4.459506	0.84317	.	.	ENSG00000112137	ENST00000379350;ENST00000379348;ENST00000332995;ENST00000432934	T;T;T	0.43294	0.95;0.95;0.95	6.17	6.17	0.99709	.	0.000000	0.47455	D	0.000235	T	0.42359	0.1199	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.996;0.998	T	0.50110	-0.8866	10	0.87932	D	0	.	18.0353	0.89301	0.0:0.0:1.0:0.0	.	32;32;32;32	E7ESR5;Q5R356;Q9C0D0;Q9C0D0-2	.;.;PHAR1_HUMAN;.	E	32	ENSP00000368655:G32E;ENSP00000368653:G32E;ENSP00000329880:G32E	ENSP00000329880:G32E	G	+	2	0	PHACTR1	12827057	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.069000	0.71209	2.941000	0.99782	0.655000	0.94253	GGA		0.388	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		A	12719071	G	A	12719071	3	1	18	1	0	0	0	0	1	0	0	0	11809	1174	41	3	97	3	PHACTR1	6	12719071	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10		12719071	158395996	18	1321											
MUC21	394263	mdanderson.org	37	chr6	30955202	30955202	+	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	cagcacagtgtccagtggggCcagcactgccaccaattctg	9	7	11	14	0	1	0	0	0	1	0	2	0	2	0	4	2	3	2	4	2	1	1	rs2429294	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:30955202C>T	ENST00000376296.3	+	2	1491	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	417	28 X 15 AA approximate tandem repeats.|Ser-rich.			A -> I (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						TCCAGTGGGGCCAGCACTGCC	0.622													c|||	404	0.0806709	0.0749	0.1427	5008	,	,		19938	0.0556		0.0805	False		,,,				2504	0.0706					.											0																																										SO:0001583	missense	394263			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.1250C>T	6.37:g.30955202C>T	ENSP00000365473:p.Ala417Val		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	217	0.09935897435897435	48	0.0975609756097561	60	0.16574585635359115	55	0.09615384615384616	54	0.0712401055408971	c	9.220	1.033023	0.19590	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01804	4.63	3.58	1.78	0.24846	.	.	.	.	.	T	0.00328	0.0010	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.37709	-0.9694	9	0.25106	T	0.35	-0.4275	7.735	0.28808	0.0:0.7843:0.0:0.2157	rs2429294	417	Q5SSG8	MUC21_HUMAN	V	267;417	ENSP00000365473:A417V	ENSP00000365473:A417V	A	+	2	0	MUC21	31063181	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.835000	0.04386	0.325000	0.23359	-0.225000	0.12378	GCC		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30955202	C	T	30955202	3	4	18	1	0	0	0	0	1	0	0	0	9977	739	26	3	1256	3	MUC21	6	30955202	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	18236131	30955202	140159865	19	1322											
KIAA1244	57221	ucsc.edu	37	chr6	138483249	138483249	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcctgaggaagctgcAgaaggaggcgtccgggagca	13	4	16	8	2	0	3	0	1	0	2	2	6	2	6	2	4	3	3	2	4	3	0			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:138483249A>G	ENST00000251691.4	+	1	192	c.26A>G	c.(25-27)cAg>cGg	p.Q9R		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)		AGGAAGCTGCAGAAGGAGGCG	0.701																																						.											0													39	48	45					6																	138483249		1918	4134	6052	SO:0001583	missense	57221			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.26A>G	6.37:g.138483249A>G	ENSP00000251691:p.Gln9Arg			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450976	0.84209	.	.	ENSG00000112379	ENST00000251691	T	0.18174	2.23	4.07	4.07	0.47477	.	.	.	.	.	T	0.17323	0.0416	L	0.40543	1.245	0.40639	D	0.981929	D	0.54601	0.967	P	0.62382	0.901	T	0.01401	-1.1364	9	0.39692	T	0.17	-11.7155	12.2239	0.54449	1.0:0.0:0.0:0.0	.	9	Q5TH69	BIG3_HUMAN	R	9	ENSP00000251691:Q9R	ENSP00000251691:Q9R	Q	+	2	0	KIAA1244	138524942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.816000	0.75247	1.487000	0.48415	0.374000	0.22700	CAG		0.701	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		G	138483249	A	G	138483249	3	3	18	1	0	0	0	0	1	0	0	0	8217	188	7	2	28	2	KIAA1244	6	138483249	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10	107528047	138483249	32631818	20	1323											
KIAA1244	57221	bcgsc.ca	37	chr6	138583938	138583938	+	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	tgctgggtgccctggatgagCtcagccaggggaagggcttg	6	8	18	9	0	1	1	1	1	0	0	1	3	1	3	2	5	4	3	2	5	1	1			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:138583938C>T	ENST00000251691.4	+	12	1484	c.1318C>T	c.(1318-1320)Ctc>Ttc	p.L440F		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)		CCTGGATGAGCTCAGCCAGGG	0.587																																						.											0													98	89	92					6																	138583938		2203	4300	6503	SO:0001583	missense	57221			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.1318C>T	6.37:g.138583938C>T	ENSP00000251691:p.Leu440Phe			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680008	0.68042	.	.	ENSG00000112379	ENST00000251691	T	0.05025	3.51	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	M	0.72894	2.215	0.58432	D	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.00262	-1.1867	10	0.87932	D	0	-23.6865	17.8491	0.88739	0.0:1.0:0.0:0.0	.	440	Q5TH69	BIG3_HUMAN	F	440	ENSP00000251691:L440F	ENSP00000251691:L440F	L	+	1	0	KIAA1244	138625631	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.313000	0.78978	2.639000	0.89480	0.655000	0.94253	CTC		0.587	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138583938	C	T	138583938	3	4	18	1	0	0	0	0	1	0	0	0	8217	797	28	4	1364	4	KIAA1244	6	138583938	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	100689	138583938	32531129	21	1324											
PEX3	8504	broad.mit.edu	37	chr6	143780275	143780275	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatcagagaaatacaggaaAgggaggctgcagaatacatt	19	6	11	5	0	1	2	1	0	0	2	1	5	1	4	0	3	3	2	0	3	6	3			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:143780275A>G	ENST00000367591.4	+	2	190	c.127A>G	c.(127-129)Agg>Ggg	p.R43G		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	43	Targeting to peroxisomes.				peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AATACAGGAAAGGGAGGCTGC	0.343																																						.											0													109	105	106					6																	143780275		2203	4300	6503	SO:0001583	missense	8504			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.127A>G	6.37:g.143780275A>G	ENSP00000356563:p.Arg43Gly		Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390393	0.42410	.	.	ENSG00000034693	ENST00000367591	T	0.53640	0.61	5.76	5.76	0.90799	.	0.153254	0.56097	D	0.000036	T	0.34454	0.0898	M	0.66378	2.025	0.58432	D	0.999999	B;B	0.10296	0.002;0.003	B;B	0.20184	0.028;0.003	T	0.34502	-0.9826	10	0.54805	T	0.06	-10.4094	12.7856	0.57502	0.8544:0.1456:0.0:0.0	.	43;43	B4DV31;P56589	.;PEX3_HUMAN	G	43	ENSP00000356563:R43G	ENSP00000356563:R43G	R	+	1	2	PEX3	143821968	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.367000	0.59498	2.197000	0.70478	0.482000	0.46254	AGG		0.343	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			G	143780275	A	G	143780275	3	3	18	1	0	0	0	0	1	0	0	0	11747	63	3	2	133	2	PEX3	6	143780275	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10	5196337	143780275	27334792	22	1325											
TCP1	6950	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr6	160200278	160200278	+	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	tctcgaggtttaccattgctCaaatcaagaccaatcctgca	12	11	6	12	1	3	1	2	0	1	1	5	2	4	1	3	1	3	3	3	1	4	3			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr6:160200278C>T	ENST00000321394.7	-	12	1750	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000544255.1_Silent_p.L266L|TCP1_ENST00000392168.2_Silent_p.L335L|TCP1_ENST00000420894.2_3'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	490					'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)		TACCATTGCTCAAATCAAGAC	0.373																																						.											0													89	91	90					6																	160200278		2203	4300	6503	SO:0001819	synonymous_variant	6950			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.1470G>A	6.37:g.160200278C>T			E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	CCDS5269.1																																																																																				0.373	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		T	160200278	C	T	160200278	2	4	18	1	0	0	0	0	0	0	0	1	15706	825	29	4		4	TCP1	6	160200278	Silent	SNP	C	TCGA-KL-8340-01A-11D-2310-10	16420003	160200278	10914789	23	1326											
GLI3	2737	broad.mit.edu	37	chr7	42079819	42079819	+	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	ctcggcctggctgacagcctGgggctggagaatctggtgcc	5	8	16	12	1	1	2	0	1	1	1	2	3	1	2	3	6	2	2	3	6	1	0			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr7:42079819G>T	ENST00000395925.3	-	7	930	c.846C>A	c.(844-846)ccC>ccA	p.P282P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	282					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						CTGACAGCCTGGGGCTGGAGA	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													.											0													120	114	116					7																	42079819		2203	4300	6503	SO:0001819	synonymous_variant	2737	Familial Cancer Database	;		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.846C>A	7.37:g.42079819G>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42079819	G	T	42079819	2	4	18	1	0	0	0	0	0	0	0	1	6439	1335	47	5		5	GLI3	7	42079819	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10		42079819	117058844	24	1327											
ESRP1	54845	bcgsc.ca	37	chr8	95683886	95683886	+	Missense_Mutation	SNP	T	T	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	tactcatggggttcacatggTtttgaatcaccaggtaagaa	12	12	10	7	0	3	2	3	1	0	1	3	2	3	2	1	4	1	3	1	4	4	5			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr8:95683886T>C	ENST00000433389.2	+	11	1629	c.1439T>C	c.(1438-1440)gTt>gCt	p.V480A	ESRP1_ENST00000454170.2_Missense_Mutation_p.V480A|ESRP1_ENST00000423620.2_Missense_Mutation_p.V480A|ESRP1_ENST00000358397.5_Missense_Mutation_p.V480A	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	480	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						GTTCACATGGTTTTGAATCAC	0.383																																						.											0													41	40	40					8																	95683886		1907	4147	6054	SO:0001583	missense	54845			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.1439T>C	8.37:g.95683886T>C	ENSP00000405738:p.Val480Ala		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473443	0.84640	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	M	0.75447	2.3	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	0.91635	0.992;0.999;0.994;0.999;0.997;0.996	T	0.02813	-1.1107	10	0.72032	D	0.01	-14.9747	14.9737	0.71254	0.0:0.0:0.0:1.0	.	480;480;480;480;480;480	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	A	480;480;480;480;339	ENSP00000407349:V480A;ENSP00000405738:V480A;ENSP00000351168:V480A;ENSP00000402766:V480A;ENSP00000429125:V339A	ENSP00000351168:V480A	V	+	2	0	ESRP1	95753062	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.981000	0.57761	0.460000	0.39030	GTT		0.383	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		C	95683886	T	C	95683886	3	2	18	1	0	0	0	0	1	0	0	0	5258	1725	60	2	1481	2	ESRP1	8	95683886	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10		95683886	50680136	25	1328											
NFKBIL2	4796	mdanderson.org	37	chr8	145661320	145661320	+	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	tccagctccagccagtccccGgccaggcactcctcctccgg	5	6	9	21	2	0	0	0	0	0	0	6	0	6	0	9	3	2	2	9	3	0	0	rs2721140	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr8:145661320G>A	ENST00000409379.3	-	17	2525	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	832					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCCAGTCCCCGGCCAGGCACT	0.741													g|||	2347	0.46865	0.4115	0.438	5008	,	,		13786	0.4246		0.4662	False		,,,				2504	0.6155					.											0										1747,2459		402,943,758	8	11	10		2496	-8.9	0	8	dbSNP_100	10	3725,4593		923,1879,1357	no	coding-synonymous	TONSL	NM_013432.4		1325,2822,2115	AA,AG,GG		44.7824,41.5359,43.6921		832/1379	145661320	5472,7052	2103	4159	6262	SO:0001819	synonymous_variant	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2496C>T	8.37:g.145661320G>A			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																				0.741	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		A	145661320	G	A	145661320	2	1	18	1	0	0	0	0	0	0	0	1	10382	1103	39	1		1	NFKBIL2	8	145661320	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10	49977434	145661320	702702	26	1329											
IFNA7	3444	mdanderson.org	37	chr9	21202040	21202040	+	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	gagagattcttcccatttgtGccaggagtatcaaggccctc	9	11	10	11	0	2	1	1	0	1	1	4	4	3	2	3	2	1	1	3	2	2	4	rs200751233	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:21202040G>C	ENST00000239347.3	-	1	164	c.125C>G	c.(124-126)gCa>gGa	p.A42G		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	42					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)		TCCCATTTGTGCCAGGAGTAT	0.507													G|||	24	0.00479233	0.0015	0	5008	,	,		19378	0.0179		0.004	False		,,,				2504	0					.											0													116	114	115					9																	21202040		2203	4300	6503	SO:0001583	missense	3444				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.125C>G	9.37:g.21202040G>C	ENSP00000239347:p.Ala42Gly		Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	0.466	-0.886593	0.02511	.	.	ENSG00000214042	ENST00000239347	T	0.05139	3.49	3.56	-1.74	0.08056	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.761996	0.12212	N	0.489217	T	0.02688	0.0081	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.48468	-0.9033	10	0.11182	T	0.66	.	6.4322	0.21803	0.0:0.1783:0.5382:0.2835	.	42	P01567	IFNA7_HUMAN	G	42	ENSP00000239347:A42G	ENSP00000239347:A42G	A	-	2	0	IFNA7	21192040	0.000000	0.05858	0.032000	0.17829	0.205000	0.24178	-1.756000	0.01813	-0.160000	0.11002	0.586000	0.80456	GCA		0.507	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		C	21202040	G	C	21202040	3	2	18	1	0	0	0	0	1	0	0	0	7542	1319	46	5	448	5	IFNA7	9	21202040	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10		21202040	120011391	27	1330			1	11		2	2	34	N	G_C	5.756253e-05
IFNA7	3444	mdanderson.org	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-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	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																																						.											0													95	94	94					9																	21202073		2203	4300	6503	SO:0001583	missense	3444				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		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	18	1	0	0	0	0	1	0	0	0	7542	797	28	5	481	5	IFNA7	9	21202073	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	33	21202073	120011358	28	1331			1	11		2	2	34	N	G_C	5.756253e-05
TAF1L	138474	broad.mit.edu;mdanderson.org	37	chr9	32632258	32632258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcagctgagatgctgTctgtgtcagttgataagacc	9	14	10	8	0	4	3	2	2	2	2	4	4	4	3	1	0	2	3	1	0	2	4			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:32632258T>C	ENST00000242310.4	-	1	3409	c.3320A>G	c.(3319-3321)gAc>gGc	p.D1107G	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	1107					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)		TGAGATGCTGTCTGTGTCAGT	0.438																																						.											0													190	161	171					9																	32632258		2203	4300	6503	SO:0001583	missense	138474			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.3320A>G	9.37:g.32632258T>C	ENSP00000418379:p.Asp1107Gly		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728446	0.48833	.	.	ENSG00000122728	ENST00000242310	T	0.18502	2.21	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	N	0.19112	0.55	0.58432	D	0.999991	B	0.10296	0.003	B	0.10450	0.005	T	0.26780	-1.0093	10	0.17369	T	0.5	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1107	Q8IZX4	TAF1L_HUMAN	G	1107	ENSP00000418379:D1107G	ENSP00000418379:D1107G	D	-	2	0	TAF1L	32622258	1.000000	0.71417	0.835000	0.33067	0.464000	0.32679	3.503000	0.53340	0.426000	0.26116	0.164000	0.16699	GAC		0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			C	32632258	T	C	32632258	3	2	18	1	0	0	0	0	1	0	0	0	15520	1667	58	2	2164	2	TAF1L	9	32632258	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	11430185	32632258	108581173	29	1332											
GDA	9615	broad.mit.edu	37	chr9	74828816	74828816	+	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	ttacagataaatttggacagCgggcatttgtgggcaaagtt	12	12	12	5	1	0	1	0	0	0	1	0	2	0	2	0	3	2	3	0	3	4	5			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:74828816C>T	ENST00000358399.3	+	5	580	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	GDA_ENST00000376986.1_Missense_Mutation_p.R121W|GDA_ENST00000545168.1_Missense_Mutation_p.R89W|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R163W|GDA_ENST00000376989.3_Missense_Mutation_p.R138W	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	163					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|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)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTTGGACAGCGGGCATTTGT	0.348																																						.											0													114	113	114					9																	74828816		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.487C>T	9.37:g.74828816C>T	ENSP00000351170:p.Arg163Trp		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637359	0.67130	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.64	3.72	0.42706	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	H	0.97023	3.925	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97524	1.0075	10	0.87932	D	0	-9.3723	13.4568	0.61204	0.5727:0.4273:0.0:0.0	.	121;163;163	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	W	89;163;138;121;163	ENSP00000437972:R89W;ENSP00000238018:R163W;ENSP00000366188:R138W;ENSP00000366185:R121W;ENSP00000351170:R163W	ENSP00000238018:R163W	R	+	1	2	GDA	74018636	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.318000	0.19504	0.671000	0.31185	0.591000	0.81541	CGG		0.348	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			T	74828816	C	T	74828816	3	4	18	1	0	0	0	0	1	0	0	0	6306	759	27	1	505	1	GDA	9	74828816	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	42196558	74828816	66384615	30	1333											
LOC645961	645961	broad.mit.edu	37	chr9	90747122	90747122	+	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	aaacttgactgtttgagccgCcaaggcctgagatgcctggg	9	9	13	10	1	0	3	0	3	0	1	0	4	0	3	4	2	3	1	4	2	2	2			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:90747122C>T								U6 (133872 upstream) : U3 (242061 downstream)																							GTTTGAGCCGCCAAGGCCTGA	0.557																																						.											0													64	63	63					9																	90747122		692	1591	2283	SO:0001628	intergenic_variant	645961																															9.37:g.90747122C>T				Missense_Mutation	SNP		37																																																																																				0	0.557									T	90747122	C	T	90747122	1	4	18	0	1	0	0	0	0	0	0	0	8883	739	26	3		3	LOC645961	9	90747122	IGR	SNP	C	TCGA-KL-8340-01A-11D-2310-10	15918306	90747122	50466309	31	1334											
SPTAN1	6709	bcgsc.ca	37	chr9	131388829	131388829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgctcctccctcagcTctgcccaggctgacttcaac	5	10	6	20	1	3	1	2	1	1	0	6	1	6	1	5	1	3	3	5	1	1	2			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:131388829T>C	ENST00000372731.4	+	48	6534	c.6424T>C	c.(6424-6426)Tct>Cct	p.S2142P	SPTAN1_ENST00000358161.5_Missense_Mutation_p.S2147P|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S2147P	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2142					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						CTCCCTCAGCTCTGCCCAGGC	0.597																																					NSCLC(120;833 1744 2558 35612 37579)	.											0													49	52	51					9																	131388829		2203	4300	6503	SO:0001583	missense	6709			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.6424T>C	9.37:g.131388829T>C	ENSP00000361816:p.Ser2142Pro		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.268976	0.80469	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.65549	-0.16;-0.16;-0.16	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.999;0.981;0.99	D;D;D	0.68621	0.951;0.959;0.948	T	0.79876	-0.1618	10	0.62326	D	0.03	.	15.6721	0.77286	0.0:0.0:0.0:1.0	.	2122;2147;2142	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	P	2147;2142;2147;2122;391	ENSP00000350882:S2147P;ENSP00000361816:S2142P;ENSP00000361824:S2147P	ENSP00000350882:S2147P	S	+	1	0	SPTAN1	130428650	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.698000	0.84413	2.099000	0.63709	0.460000	0.39030	TCT		0.597	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		C	131388829	T	C	131388829	3	2	18	1	0	0	0	0	1	0	0	0	15116	1551	54	2	6629	2	SPTAN1	9	131388829	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	40641707	131388829	9824602	32	1335											
SURF4	6836	broad.mit.edu	37	chr9	136231848	136231848	+	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	cccgcaaacatgctcttcccTtcagaacgggattctgctag	9	10	8	14	2	3	1	1	0	2	1	4	2	4	2	2	1	4	3	2	1	3	4			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr9:136231848T>C	ENST00000371989.3	-	5	540	c.411A>G	c.(409-411)gaA>gaG	p.E137E	SURF4_ENST00000371991.3_Silent_p.E137E|SURF4_ENST00000485435.2_Silent_p.E137E|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron	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	137					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)		TGCTCTTCCCTTCAGAACGGG	0.572																																						.											0													55	44	48					9																	136231848		2203	4300	6503	SO:0001819	synonymous_variant	6836				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.411A>G	9.37:g.136231848T>C			B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	CCDS6968.1																																																																																				0.572	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		C	136231848	T	C	136231848	2	2	18	1	0	0	0	0	0	0	0	1	15402	1606	56	2		2	SURF4	9	136231848	Silent	SNP	T	TCGA-KL-8340-01A-11D-2310-10	4843019	136231848	4981583	33	1336											
ARL5B	221079	broad.mit.edu	37	chr10	18957460	18957460	+	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	ggtgtctgtttttcaacagcTtaatgaatgaagtggttcat	10	16	10	5	0	3	2	2	2	1	0	3	2	3	2	0	2	2	3	0	2	4	4			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr10:18957460T>C	ENST00000377275.3	+	3	342	c.109T>C	c.(109-111)Tta>Cta	p.L37L		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	37					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						TTTCAACAGCTTAATGAATGA	0.353																																						.											0													94	90	91					10																	18957460		2203	4300	6503	SO:0001630	splice_region_variant	221079			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.108-1T>C	10.37:g.18957460T>C				Silent	SNP	ENST00000377275.3	37	CCDS7131.1																																																																																				0.353	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815	Silent	C	18957460	T	C	18957460	5	2	18	1	0	0	0	0	0	0	1	0	940	1623	56	2	119	2	ARL5B	10	18957460	Splice_Site	SNP	T	TCGA-KL-8340-01A-11D-2310-10		18957460	116577287	34	1337											
MASTL	84930	broad.mit.edu;bcgsc.ca	37	chr10	27447559	27447559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcactggcactaagcaaaAgcccattcattgtccatttg	12	11	7	11	0	1	0	1	0	0	0	2	0	2	0	2	1	3	3	2	1	3	4			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr10:27447559A>G	ENST00000375940.4	+	2	325	c.268A>G	c.(268-270)Agc>Ggc	p.S90G	MASTL_ENST00000375946.4_Missense_Mutation_p.S90G|MASTL_ENST00000342386.6_Missense_Mutation_p.S90G			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						ACTAAGCAAAAGCCCATTCAT	0.338																																						.											0													176	171	173					10																	27447559		2203	4300	6503	SO:0001583	missense	84930			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.268A>G	10.37:g.27447559A>G	ENSP00000365107:p.Ser90Gly		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738018	0.89573	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.66280	-0.2;-0.2;-0.2	5.48	5.48	0.80851	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	0.74397	0.3711	L	0.51853	1.615	0.80722	D	1	P;D;D	0.76494	0.84;0.996;0.999	P;D;D	0.81914	0.607;0.975;0.995	T	0.76046	-0.3102	10	0.56958	D	0.05	-19.8091	15.5726	0.76352	1.0:0.0:0.0:0.0	.	90;90;90	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	G	90	ENSP00000365113:S90G;ENSP00000343446:S90G;ENSP00000365107:S90G	ENSP00000343446:S90G	S	+	1	0	MASTL	27487565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.524000	0.90579	2.080000	0.62538	0.455000	0.32223	AGC		0.338	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		G	27447559	A	G	27447559	3	3	18	1	0	0	0	0	1	0	0	0	9328	72	3	2	274	2	MASTL	10	27447559	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10	8490099	27447559	108087188	35	1338											
NRAP	3026	broad.mit.edu;bcgsc.ca	37	chr10	115348753	115348753	+	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	1	0	0	0	0	0	0	ctcacaacagcagggccttcTtctttttgacgtgcagaatc	9	12	8	12	1	3	2	1	1	2	1	4	2	3	2	1	1	3	2	1	1	2	4			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr10:115348753T>C	ENST00000351270.3	+	0	2404				NRAP_ENST00000369358.4_Missense_Mutation_p.K1733R|NRAP_ENST00000369360.3_Missense_Mutation_p.K1698R|NRAP_ENST00000360478.3_Missense_Mutation_p.K1690R|HABP2_ENST00000542051.1_3'UTR|NRAP_ENST00000359988.3_Missense_Mutation_p.K1725R	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)	CAGGGCCTTCTTCTTTTTGAC	0.537																																						.											0													173	161	165					10																	115348753		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4892				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	ENST00000351270.3:c.*625T>C	10.37:g.115348753T>C			A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	T	7.613	0.675114	0.14841	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.18657	2.41;2.41;2.29;2.2	5.66	3.37	0.38596	.	0.208119	0.51477	N	0.000088	T	0.11793	0.0287	L	0.31926	0.97	0.29282	N	0.869937	B;B;B;B	0.11235	0.001;0.002;0.004;0.002	B;B;B;B	0.13407	0.004;0.004;0.009;0.004	T	0.28490	-1.0042	10	0.07325	T	0.83	.	5.8094	0.18457	0.0:0.5019:0.0:0.4981	.	847;1726;1690;1725	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	R	1733;1698;1725;1690;847	ENSP00000358365:K1733R;ENSP00000358367:K1698R;ENSP00000353078:K1725R;ENSP00000353666:K1690R	ENSP00000353078:K1725R	K	-	2	0	NRAP	115338743	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	1.622000	0.36997	1.186000	0.42985	0.454000	0.30748	AAG		0.537	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		C	115348753	T	C	115348753	1	2	18	0	1	0	0	0	0	0	0	0	10638	1609	56	2		2	NRAP	10	115348753	3'UTR	SNP	T	TCGA-KL-8340-01A-11D-2310-10	87901194	115348753	20185994	36	1339											
PANX1	24145	broad.mit.edu	37	chr11	93913343	93913343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaaaccttggcatgatcaAgatggatgttgttgatggca	12	11	12	6	0	1	3	1	2	0	1	1	5	1	4	1	3	1	4	1	3	2	3			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr11:93913343A>G	ENST00000227638.3	+	4	1506	c.1121A>G	c.(1120-1122)aAg>aGg	p.K374R	PANX1_ENST00000436171.2_Missense_Mutation_p.K374R	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	374					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GGCATGATCAAGATGGATGTT	0.493																																						.											0													87	80	82					11																	93913343		2201	4298	6499	SO:0001583	missense	24145			AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.1121A>G	11.37:g.93913343A>G	ENSP00000227638:p.Lys374Arg		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779361	0.70107	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.22945	1.93;1.93	5.31	4.19	0.49359	.	0.042144	0.85682	N	0.000000	T	0.49406	0.1555	M	0.79475	2.455	0.50313	D	0.999864	D;D	0.71674	0.997;0.998	D;D	0.80764	0.985;0.994	T	0.50709	-0.8796	10	0.72032	D	0.01	-23.8538	10.6165	0.45454	0.9243:0.0:0.0757:0.0	.	374;374	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	R	374	ENSP00000227638:K374R;ENSP00000411461:K374R	ENSP00000227638:K374R	K	+	2	0	PANX1	93552991	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.371000	0.59523	0.874000	0.35823	0.533000	0.62120	AAG		0.493	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		G	93913343	A	G	93913343	3	3	18	1	0	0	0	0	1	0	0	0	11420	72	3	2	1135	2	PANX1	11	93913343	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10		93913343	41093173	37	1340											
OR10G7	390265	broad.mit.edu;mdanderson.org	37	chr11	123909471	123909471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggacaccaaggtcatcaGcattttgggcaccgtgacag	10	8	13	10	1	2	1	2	1	0	0	2	2	2	2	2	4	1	2	2	4	1	2			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr11:123909471G>T	ENST00000330487.5	-	1	246	c.238C>A	c.(238-240)Ctg>Atg	p.L80M		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	80						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(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		AAGGTCATCAGCATTTTGGGC	0.537																																						.											0													139	150	146					11																	123909471		2200	4299	6499	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.238C>A	11.37:g.123909471G>T	ENSP00000329689:p.Leu80Met		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207174	0.22205	.	.	ENSG00000182634	ENST00000330487	T	0.00441	7.41	3.39	0.353	0.16058	GPCR, rhodopsin-like superfamily (1);	0.188630	0.25810	N	0.028158	T	0.00666	0.0022	M	0.62016	1.91	0.27375	N	0.955584	D	0.89917	1.0	D	0.91635	0.999	T	0.52124	-0.8617	10	0.39692	T	0.17	.	3.5934	0.07997	0.3043:0.0:0.5206:0.1751	.	80	Q8NGN6	O10G7_HUMAN	M	80	ENSP00000329689:L80M	ENSP00000329689:L80M	L	-	1	2	OR10G7	123414681	0.311000	0.24536	0.998000	0.56505	0.726000	0.41606	-0.127000	0.10547	-0.026000	0.13895	-0.463000	0.05309	CTG		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909471	G	T	123909471	3	4	18	1	0	0	0	0	1	0	0	0	10902	962	34	5	701	5	OR10G7	11	123909471	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10	29996128	123909471	11097045	38	1341											
DCP1B	196513	broad.mit.edu	37	chr12	2113565	2113566	+	Frame_Shift_Ins	INS	-	-	C																															ggctgatgtcgcgcccctttINScccaccaggccgcctgccgc																										TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:2113565_2113566insC	ENST00000280665.6	-	1	111_112	c.32_33insG	c.(31-33)ggafs	p.G11fs	DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR|RP5-1096D14.6_ENST00000354425.4_RNA	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	11					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CGCGCCCCTTTCCCACCAGGCC	0.649																																						.											0																																										SO:0001589	frameshift_variant	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.33dupG	12.37:g.2113568_2113568dupC	ENSP00000280665:p.Gly11fs		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Frame_Shift_Ins	INS	ENST00000280665.6	37	CCDS31727.1																																																																																				0.649	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		C	2113566	-	C	2113565	7	5	18	1	0	1	1	0	0	0	0	0	4299	1770	62	0	1856	0	DCP1B	12	2113565	Frame_Shift_Ins	INS	-	TCGA-KL-8340-01A-11D-2310-10		2113565	131738330	39	1342											
ZNF384	171017	hgsc.bcm.edu	37	chr12	6777081	6777081	+	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	ggtggctgttgctgctgctgCtgctgctgctgctgctgctg	0	14	16	11	0	0	0	0	0	0	0	0	0	0	0	0	2	10	12	0	2	0	1			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:6777081C>T	ENST00000396801.3	-	11	1740	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	ZNF384_ENST00000396799.2_Silent_p.Q450Q|ZNF384_ENST00000396795.1_Silent_p.Q450Q|ZNF384_ENST00000361959.3_Silent_p.Q511Q|RP4-761J14.8_ENST00000586338.1_RNA|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Silent_p.Q434Q|ZNF384_ENST00000355772.4_Silent_p.Q395Q	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						gctgctgctgctgctgctgct	0.667			T	"EWSR1, TAF15 "	ALL																																	.		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													15	19	18					12																	6777081		2200	4287	6487	SO:0001819	synonymous_variant	171017			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.1533G>A	12.37:g.6777081C>T			O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	CCDS44817.1																																																																																				0.667	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			T	6777081	C	T	6777081	2	4	18	1	0	0	0	0	0	0	0	1	17872	796	28	4		4	ZNF384	12	6777081	Silent	SNP	C	TCGA-KL-8340-01A-11D-2310-10	4663516	6777081	127074814	40	1343			2	12		2	2	22	N	C	3.663108e-05
ZNF384	171017	broad.mit.edu	37	chr12	6777102	6777102	+	Frame_Shift_Del	DEL	C	C	-																															tgctgctgctgctgctgctgCtgctgctgctgtgatgcctg																										TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:6777102delC	ENST00000396801.3	-	11	1719	c.1512delG	c.(1510-1512)cagfs	p.Q516fs	ZNF384_ENST00000396799.2_Frame_Shift_Del_p.Q455fs|ZNF384_ENST00000396795.1_Frame_Shift_Del_p.Q455fs|ZNF384_ENST00000361959.3_Frame_Shift_Del_p.Q516fs|RP4-761J14.8_ENST00000586338.1_RNA|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Frame_Shift_Del_p.Q439fs|ZNF384_ENST00000355772.4_Frame_Shift_Del_p.Q400fs	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	516	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						gctgctgctgctgctgctgct	0.682			T	"EWSR1, TAF15 "	ALL																																	.		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													13	16	15					12																	6777102		2189	4276	6465	SO:0001589	frameshift_variant	171017			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.1512delG	12.37:g.6777102delC	ENSP00000380019:p.Gln516fs		O15407|Q7Z722|Q8N938	Frame_Shift_Del	DEL	ENST00000396801.3	37	CCDS44817.1																																																																																				0.682	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			-	6777102	C	-	6777102	7	5	18	1	0	1	0	1	0	0	0	0	17872	796	28	0	225	0	ZNF384	12	6777102	Frame_Shift_Del	DEL	C	TCGA-KL-8340-01A-11D-2310-10	21	6777102	127074793	41	1344			2	12		2	2	22	N	C	3.663108e-05
CCNT1	904	broad.mit.edu;bcgsc.ca	37	chr12	49087549	49087549	+	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	ctgcagcatggacttttatgCgcatttttatctcctctggt	6	17	8	10	1	2	0	0	0	2	0	3	1	2	1	1	2	3	3	1	2	2	5			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:49087549C>T	ENST00000261900.3	-	9	1670	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	483					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GACTTTTATGCGCATTTTTAT	0.438																																						.											0													131	128	129					12																	49087549		2203	4300	6503	SO:0001583	missense	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1448G>A	12.37:g.49087549C>T	ENSP00000261900:p.Arg483His		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411101	0.62399	.	.	ENSG00000129315	ENST00000261900	T	0.22945	1.93	4.89	3.03	0.35002	.	0.105878	0.64402	D	0.000006	T	0.30324	0.0761	L	0.38175	1.15	0.42590	D	0.993247	D	0.69078	0.997	P	0.55161	0.77	T	0.03202	-1.1061	10	0.66056	D	0.02	-3.9863	9.6691	0.40002	0.0:0.7779:0.1419:0.0802	.	483	O60563	CCNT1_HUMAN	H	483	ENSP00000261900:R483H	ENSP00000261900:R483H	R	-	2	0	CCNT1	47373816	0.820000	0.29190	0.989000	0.46669	0.985000	0.73830	1.584000	0.36589	0.558000	0.29135	0.561000	0.74099	CGC		0.438	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		T	49087549	C	T	49087549	3	4	18	1	0	0	0	0	1	0	0	0	2934	768	27	1	736	1	CCNT1	12	49087549	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	42310447	49087549	84764346	42	1345											
DDX54	79039	ucsc.edu	37	chr12	113623117	113623117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcttccgcctggatcTcaaactcgccgtcctccgag	6	10	8	17	5	3	0	2	0	2	0	8	2	6	1	5	1	1	0	5	1	1	1			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:113623117T>C	ENST00000306014.5	-	1	167	c.140A>G	c.(139-141)gAg>gGg	p.E47G	C12orf52_ENST00000548278.1_5'Flank|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_5'Flank|C12orf52_ENST00000549621.1_5'Flank|DDX54_ENST00000314045.7_Missense_Mutation_p.E47G	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	47					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						CGCCTGGATCTCAAACTCGCC	0.726																																						.											0													10	12	11					12																	113623117		2187	4275	6462	SO:0001583	missense	79039			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.140A>G	12.37:g.113623117T>C	ENSP00000304072:p.Glu47Gly		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657116	0.67586	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.10668	2.85;2.86	4.29	4.29	0.51040	.	0.241494	0.33127	N	0.005258	T	0.19725	0.0474	L	0.43152	1.355	0.42114	D	0.991397	D;D	0.69078	0.997;0.976	D;P	0.63283	0.913;0.703	T	0.00945	-1.1505	10	0.38643	T	0.18	.	10.0122	0.41992	0.0:0.0:0.0:1.0	.	47;47	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	G	47	ENSP00000323858:E47G;ENSP00000304072:E47G	ENSP00000304072:E47G	E	-	2	0	DDX54	112107500	1.000000	0.71417	0.998000	0.56505	0.210000	0.24377	2.564000	0.45931	1.936000	0.56123	0.379000	0.24179	GAG		0.726	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		C	113623117	T	C	113623117	3	2	18	1	0	0	0	0	1	0	0	0	4372	1551	54	2	2588	2	DDX54	12	113623117	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10	64535568	113623117	20228778	43	1346											
UBC	7316	broad.mit.edu	37	chr12	125396280	125396280	+	Missense_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	ttagacaccccccctcaagcGcaggaccaagtgcagagtgg	11	5	11	14	1	1	2	1	0	0	2	1	3	1	3	4	2	2	2	4	2	3	1			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr12:125396280G>A	ENST00000538617.1	-	4	1214	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	UBC_ENST00000339647.5_Missense_Mutation_p.R680C|UBC_ENST00000536769.1_Missense_Mutation_p.R680C|UBC_ENST00000546120.1_Missense_Mutation_p.R604C|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	680	Ubiquitin-like 4. {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)		CCCCTCAAGCGCAGGACCAAG	0.448																																						.											0													84	82	83					12																	125396280		2203	4300	6503	SO:0001583	missense	7316				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.898C>T	12.37:g.125396280G>A	ENSP00000443053:p.Arg300Cys		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	37		.	.	.	.	.	.	.	.	.	.	G	18.57	3.652125	0.67472	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.28	4.39	0.52855	Ubiquitin supergroup (1);Ubiquitin (2);	.	.	.	.	D	0.88713	0.6511	M	0.87381	2.88	0.80722	D	1	D;P;D	0.89917	0.996;0.667;1.0	D;B;D	0.81914	0.975;0.009;0.995	D	0.90359	0.4372	9	0.87932	D	0	.	13.4266	0.61028	0.0753:0.0:0.9247:0.0	.	693;528;680	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	C	680;528;300;604;680;604;148	ENSP00000441543:R680C;ENSP00000443053:R300C;ENSP00000344818:R680C;ENSP00000438394:R604C	ENSP00000344818:R680C	R	-	1	0	UBC	123962233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.069000	0.71209	1.227000	0.43598	0.462000	0.41574	CGC		0.448	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		A	125396280	G	A	125396280	3	1	18	1	0	0	0	0	1	0	0	0	16839	1087	38	1	23	1	UBC	12	125396280	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10	11773163	125396280	8455615	44	1347											
TTC9	23508	mdanderson.org	37	chr14	71109153	71109153	+	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	aacgggagcgggactcgcgcCcggcctccccggctggggcc	4	3	17	17	6	0	0	0	0	0	0	2	2	1	2	5	6	2	1	5	6	1	0	rs4902834	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr14:71109153C>G	ENST00000256367.2	+	1	650	c.307C>G	c.(307-309)Ccg>Gcg	p.P103A	CTD-2540L5.5_ENST00000553982.1_lincRNA|CTD-2540L5.6_ENST00000500016.1_lincRNA	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	103			P -> A (in dbSNP:rs4902834). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9039502}.							skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGACTCGCGCCCGGCCTCCCC	0.672													G|||	4215	0.841653	0.9047	0.8991	5008	,	,		8571	0.8442		0.8042	False		,,,				2504	0.7515					.											0								G	ALA/PRO	3149,341		1419,311,15	6	8	7		307	-7.2	0.1	14	dbSNP_111	7	6647,1125		2853,941,92	no	missense	TTC9	NM_015351.1	27	4272,1252,107	GG,GC,CC		14.475,9.7708,13.0172	benign	103/223	71109153	9796,1466	1745	3886	5631	SO:0001583	missense	23508			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.307C>G	14.37:g.71109153C>G	ENSP00000256367:p.Pro103Ala		Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	CCDS45132.1	1812	0.8296703296703297	437	0.8882113821138211	330	0.9116022099447514	453	0.791958041958042	592	0.7810026385224275	G	0.069	-1.206605	0.01568	0.902292	0.85525	ENSG00000133985	ENST00000256367	T	0.18657	2.2	4.29	-7.15	0.01521	Tetratricopeptide-like helical (1);	0.478187	0.19869	N	0.104239	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.27706	-1.0066	9	0.25106	T	0.35	-13.8871	0.7147	0.00930	0.2371:0.249:0.1297:0.3841	rs4902834;rs17846425;rs17859471;rs57432971;rs4902834	103	Q92623	TTC9A_HUMAN	A	103	ENSP00000256367:P103A	ENSP00000256367:P103A	P	+	1	0	TTC9	70178906	0.110000	0.22057	0.071000	0.20095	0.011000	0.07611	0.182000	0.16900	-2.181000	0.00765	-2.636000	0.00152	CCG		0.672	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		G	71109153	C	G	71109153	3	3	18	1	0	0	0	0	1	0	0	0	16712	623	22	5	309	5	TTC9	14	71109153	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10		71109153	36240387	45	1348											
KCNK10	54207	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	88652066	88652066	+	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	cctcgtccagggagtaattcCggaaggtcttgtagattttc	8	13	11	9	2	1	1	0	0	1	1	5	3	3	3	3	3	0	2	3	3	3	6			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr14:88652066C>T	ENST00000340700.5	-	7	1881	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	KCNK10_ENST00000312350.5_Missense_Mutation_p.R482Q|KCNK10_ENST00000319231.5_Missense_Mutation_p.R482Q	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	477					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGAGTAATTCCGGAAGGTCTT	0.498																																						.											0													147	146	147					14																	88652066		2203	4300	6503	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1430G>A	14.37:g.88652066C>T	ENSP00000343104:p.Arg477Gln		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360250	0.61403	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.90844	-2.73;-2.74;-2.72	5.71	5.71	0.89125	.	0.845868	0.10735	N	0.640094	D	0.86531	0.5955	L	0.36672	1.1	0.43372	D	0.995465	P;P;P	0.42692	0.787;0.787;0.787	B;B;B	0.32677	0.15;0.105;0.15	D	0.85206	0.1018	10	0.46703	T	0.11	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	477;482;482	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	Q	477;482;482	ENSP00000343104:R477Q;ENSP00000310568:R482Q;ENSP00000312811:R482Q	ENSP00000310568:R482Q	R	-	2	0	KCNK10	87721819	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.428000	0.66489	2.709000	0.92574	0.655000	0.94253	CGG		0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88652066	C	T	88652066	3	4	18	1	0	0	0	0	1	0	0	0	8059	652	23	1	190	1	KCNK10	14	88652066	Missense_Mutation	SNP	C	TCGA-KL-8340-01A-11D-2310-10	17542913	88652066	18697474	46	1349											
AQR	9716	broad.mit.edu	37	chr15	35219284	35219284	+	Missense_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	actcccgagtatctacttctGccacatttgagagggcaaaa	12	10	8	11	1	2	1	0	1	2	1	3	3	3	1	2	1	2	2	2	1	4	4			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr15:35219284G>A	ENST00000156471.5	-	13	1295	c.1070C>T	c.(1069-1071)gCa>gTa	p.A357V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	357					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATCTACTTCTGCCACATTTGA	0.338																																						.											0													53	51	52					15																	35219284		1812	4072	5884	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1070C>T	15.37:g.35219284G>A	ENSP00000156471:p.Ala357Val		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795158	0.90453	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93811	-3.29	5.73	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	M	0.83692	2.655	0.51767	D	0.999936	P	0.45902	0.868	P	0.47044	0.535	D	0.93285	0.6663	10	0.31617	T	0.26	-17.0162	14.7041	0.69176	0.0695:0.0:0.9305:0.0	.	357	O60306	AQR_HUMAN	V	357	ENSP00000156471:A357V	ENSP00000156471:A357V	A	-	2	0	AQR	33006576	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	9.452000	0.97615	1.428000	0.47296	-0.136000	0.14681	GCA		0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		A	35219284	G	A	35219284	3	1	18	1	0	0	0	0	1	0	0	0	835	1319	46	4	3479	4	AQR	15	35219284	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10		35219284	67312108	47	1350											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139359	3139359	+	Frame_Shift_Del	DEL	A	A	-																															aagctgcgaccgcacgtctgAcagctgtagggccgctcgcc																										TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr16:3139359delA	ENST00000252463.2	-	5	1998	c.1911delT	c.(1909-1911)tgtfs	p.C637fs	ZSCAN10_ENST00000575108.1_Frame_Shift_Del_p.C298fs|ZSCAN10_ENST00000538082.2_Frame_Shift_Del_p.C555fs|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	637					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						CGCACGTCTGACAGCTGTAGG	0.716																																						.											0													22	26	25					16																	3139359		2177	4265	6442	SO:0001589	frameshift_variant	84891			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.1911delT	16.37:g.3139359delA	ENSP00000252463:p.Cys637fs		B3KQD3|H0YFS6|Q1WWM2	Frame_Shift_Del	DEL	ENST00000252463.2	37	CCDS10493.1																																																																																				0.716	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		-	3139359	A	-	3139359	7	5	18	1	0	1	0	1	0	0	0	0	18224	273	10	0	270	0	ZSCAN10	16	3139359	Frame_Shift_Del	DEL	A	TCGA-KL-8340-01A-11D-2310-10		3139359	87215394	48	1351											
RAP1GAP2	23108	hgsc.bcm.edu	37	chr17	2901620	2901620	+	Missense_Mutation	SNP	T	T	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	cctccaatttcttacatgccTacatcgtcgtgcaggtcgag	8	12	8	13	3	1	0	0	0	1	0	5	1	2	0	3	1	4	1	3	1	3	3			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr17:2901620T>C	ENST00000254695.8	+	14	1240	c.1150T>C	c.(1150-1152)Tac>Cac	p.Y384H	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.Y365H|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.Y384H|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.Y369H	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	384	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						CTTACATGCCTACATCGTCGT	0.532																																						.											0													114	113	113					17																	2901620		2041	4190	6231	SO:0001583	missense	23108			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.1150T>C	17.37:g.2901620T>C	ENSP00000254695:p.Tyr384His		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175858	0.78564	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.66	5.66	0.87406	Rap/ran-GAP (2);	0.173492	0.52532	D	0.000068	D	0.95382	0.8501	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	D	0.95853	0.8876	10	0.87932	D	0	-22.4855	15.0728	0.72053	0.0:0.0:0.0:1.0	.	369;384	Q684P5-2;Q684P5	.;RPGP2_HUMAN	H	384;369;365;384	ENSP00000254695:Y384H;ENSP00000389824:Y369H;ENSP00000439688:Y365H;ENSP00000444890:Y384H	ENSP00000254695:Y384H	Y	+	1	0	RAP1GAP2	2848370	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	8.040000	0.89188	2.158000	0.67659	0.459000	0.35465	TAC		0.532	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			C	2901620	T	C	2901620	3	2	18	1	0	0	0	0	1	0	0	0	13038	1522	53	2	1204	2	RAP1GAP2	17	2901620	Missense_Mutation	SNP	T	TCGA-KL-8340-01A-11D-2310-10		2901620	78293590	49	1352											
PSG3	5671	broad.mit.edu	37	chr19	43233954	43233954	+	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	gacattcagggtgactgggtAactgcggatgccaccatatc	10	9	12	10	1	1	1	1	1	0	0	2	3	1	2	2	3	3	1	2	3	2	3	rs1071709		TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr19:43233954A>T	ENST00000327495.5	-	4	1148	c.964T>A	c.(964-966)Tac>Aac	p.Y322N	PSG3_ENST00000595140.1_Missense_Mutation_p.Y322N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	322	Ig-like C2-type 2.				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)				GTGACTGGGTAACTGCGGATG	0.488																																						.											0													170	153	159					19																	43233954		1511	2709	4220	SO:0001583	missense	5671				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.964T>A	19.37:g.43233954A>T	ENSP00000332215:p.Tyr322Asn		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	c	0.770	-0.765978	0.02974	.	.	ENSG00000221826	ENST00000327495	T	0.09911	2.93	1.36	-2.4	0.06583	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03053	0.0090	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.41645	-0.9497	9	0.26408	T	0.33	.	2.1312	0.03750	0.3034:0.4815:0.0:0.2151	.	300;322	Q08266;Q16557	.;PSG3_HUMAN	N	322	ENSP00000332215:Y322N	ENSP00000332215:Y322N	Y	-	1	0	PSG3	47925794	0.934000	0.31675	0.016000	0.15963	0.011000	0.07611	0.292000	0.19011	-0.680000	0.05211	-2.134000	0.00341	TAC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43233954	A	T	43233954	3	4	18	1	0	0	0	0	1	0	0	0	12656	362	13	5	334	5	PSG3	19	43233954	Missense_Mutation	SNP	A	TCGA-KL-8340-01A-11D-2310-10		43233954	15895029	50	1353											
AKT1S1	84335	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr19	50374973	50374973	+	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	tctcctcgctcaggctgccaTctgaaagagagggtggactt	8	10	12	11	1	3	2	1	1	2	1	5	4	3	3	2	3	1	2	2	3	1	1			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr19:50374973T>A	ENST00000391833.1	-	3	2447	c.458A>T	c.(457-459)gAt>gTt	p.D153V	AKT1S1_ENST00000344175.5_Splice_Site_p.D153V|AKT1S1_ENST00000391834.2_Splice_Site_p.D153V|AKT1S1_ENST00000391832.3_Splice_Site_p.D153V|AKT1S1_ENST00000391831.1_Splice_Site_p.D153V|AKT1S1_ENST00000391835.1_Splice_Site_p.D173V	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CAGGCTGCCATCTGAAAGAGA	0.657																																						.											0													44	48	47					19																	50374973		2203	4299	6502	SO:0001630	splice_region_variant	84335			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.458-1A>T	19.37:g.50374973T>A				Missense_Mutation	SNP	ENST00000391833.1	37	CCDS12784.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.248560	0.59103	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831	T;T;T;T;T;T	0.61859	0.09;0.09;0.09;0.09;0.07;0.09	4.14	4.14	0.48551	.	0.061402	0.64402	D	0.000009	T	0.69396	0.3106	L	0.55213	1.73	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.72374	-0.4313	10	0.87932	D	0	.	11.4203	0.49978	0.0:0.0:0.0:1.0	.	153	Q96B36	AKTS1_HUMAN	V	153;153;153;153;173;153	ENSP00000375709:D153V;ENSP00000341698:D153V;ENSP00000375708:D153V;ENSP00000375710:D153V;ENSP00000375711:D173V;ENSP00000375707:D153V	ENSP00000341698:D153V	D	-	2	0	AKT1S1	55066785	0.998000	0.40836	0.992000	0.48379	0.446000	0.32137	4.804000	0.62554	1.867000	0.54127	0.533000	0.62120	GAT		0.657	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375	Missense_Mutation	A	50374973	T	A	50374973	5	1	18	1	0	0	0	0	0	0	1	0	479	1449	50	5	320	5	AKT1S1	19	50374973	Splice_Site	SNP	T	TCGA-KL-8340-01A-11D-2310-10	7141019	50374973	8754010	51	1354											
PRIC285	85441	ucsc.edu	37	chr20	62194103	62194103	+	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	gggccgaggctgctgggcccAgggcgtgggctggccgtggg	2	5	23	11	3	0	0	0	0	0	0	0	1	0	0	3	7	1	3	3	7	0	0	rs3810484	byFrequency	TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr20:62194103A>G	ENST00000467148.1	-	8	6141	c.6072T>C	c.(6070-6072)ccT>ccC	p.P2024P	HELZ2_ENST00000427522.2_Silent_p.P1455P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2024					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)										TGCTGGGCCCAGGGCGTGGGC	0.697													G|||	2740	0.547125	0.3956	0.4827	5008	,	,		13691	0.8482		0.4095	False		,,,				2504	0.6288					.											0								G	,	1610,2724		322,966,879	10	13	12		6072,4365	-4.9	0	20	dbSNP_107	12	3513,5019		782,1949,1535	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	1104,2915,2414	GG,GA,AA		41.1744,37.1481,39.8181	,	2024/2650,1455/2081	62194103	5123,7743	2167	4266	6433	SO:0001819	synonymous_variant	85441			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.6072T>C	20.37:g.62194103A>G			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62194103	A	G	62194103	2	3	18	1	0	0	0	0	0	0	0	1	12485	175	7	2		2	PRIC285	20	62194103	Silent	SNP	A	TCGA-KL-8340-01A-11D-2310-10		62194103	831417	52	1355											
TIAM1	7074	broad.mit.edu	37	chr21	32639202	32639202	+	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	gtcttgtgcgagaggcgcagGgagcgggaagtgtgcttgcg	6	8	20	7	4	1	1	0	0	1	1	1	4	1	3	0	3	4	2	0	3	1	2	rs139712298		TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chr21:32639202G>T	ENST00000286827.3	-	5	558	c.87C>A	c.(85-87)tcC>tcA	p.S29S	TIAM1_ENST00000541036.1_Silent_p.S29S|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	29					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						AGAGGCGCAGGGAGCGGGAAG	0.582																																						.											0													45	47	46					21																	32639202		2203	4300	6503	SO:0001819	synonymous_variant	7074				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.87C>A	21.37:g.32639202G>T			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.582	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32639202	G	T	32639202	2	4	18	1	0	0	0	0	0	0	0	1	15887	1219	43	5		5	TIAM1	21	32639202	Silent	SNP	G	TCGA-KL-8340-01A-11D-2310-10		32639202	15490693	53	1356											
SSX3	10214	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	48213477	48213477	+	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	ttatcaaaatcattcccctgGaagtctgtgacccgtttatt	10	15	6	10	1	3	1	2	1	1	0	4	2	4	2	3	1	0	1	3	1	5	5			TCGA-KL-8340-01A-11D-2310-10	TCGA-KL-8340-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d113ce88-04ab-4675-b363-92f80c28de34	44123123-63e3-46bd-85ee-c66a37c942a3	g.chrX:48213477G>T	ENST00000298396.2	-	4	289	c.237C>A	c.(235-237)ttC>ttA	p.F79L	SSX3_ENST00000376895.1_5'Flank|SSX3_ENST00000376893.3_Missense_Mutation_p.F79L	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	79	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CATTCCCCTGGAAGTCTGTGA	0.468																																					Colon(37;227 826 19399 40970 48007)	.											0													138	124	129					X																	48213477		2203	4300	6503	SO:0001583	missense	10214			U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.237C>A	X.37:g.48213477G>T	ENSP00000298396:p.Phe79Leu		O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	g	2.049	-0.418296	0.04766	.	.	ENSG00000165584	ENST00000298396;ENST00000376893	T;T	0.07216	3.26;3.21	0.96	0.0283	0.14158	Krueppel-associated box (1);Krueppel-associated box-related (1);	0.829980	0.10428	N	0.675889	T	0.05273	0.0140	L	0.35288	1.05	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.46610	-0.9179	10	0.16896	T	0.51	.	3.126	0.06407	0.3386:0.0:0.6614:0.0	.	79;79	Q9BRW7;Q99909	.;SSX3_HUMAN	L	79	ENSP00000298396:F79L;ENSP00000366090:F79L	ENSP00000298396:F79L	F	-	3	2	SSX3	48098421	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	0.230000	0.17852	-0.051000	0.13334	0.181000	0.17075	TTC		0.468	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		T	48213477	G	T	48213477	3	4	18	1	0	0	0	0	1	0	0	0	15204	1165	41	5	396	5	SSX3	23	48213477	Missense_Mutation	SNP	G	TCGA-KL-8340-01A-11D-2310-10		48213477	107057083	54	1357											
ACAP3	116983	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	1235261	1235261	+	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	catctcacgcttttccaccgCagagtcgatcaccagctggt	8	10	8	15	3	2	1	2	0	1	1	5	2	3	1	3	1	1	3	3	1	0	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:1235261C>G	ENST00000354700.5	-	9	890	c.688G>C	c.(688-690)Gcg>Ccg	p.A230P	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Missense_Mutation_p.A188P	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	230					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						TTTTCCACCGCAGAGTCGATC	0.687																																						.											0													22	24	24					1																	1235261		2178	4282	6460	SO:0001583	missense	116983			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.688G>C	1.37:g.1235261C>G	ENSP00000346733:p.Ala230Pro		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	CCDS19.2	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771765	0.49680	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.04502	3.61;3.61	3.38	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.79926	2.475	0.41380	D	0.987541	D;D;D	0.71674	0.998;0.992;0.988	D;P;P	0.74348	0.983;0.828;0.839	T	0.05241	-1.0897	10	0.40728	T	0.16	.	16.0417	0.80687	0.0:1.0:0.0:0.0	.	270;230;188	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	P	230;188	ENSP00000346733:A230P;ENSP00000321139:A188P	ENSP00000321139:A188P	A	-	1	0	ACAP3	1225124	1.000000	0.71417	0.828000	0.32881	0.773000	0.43773	7.108000	0.77055	2.201000	0.70794	0.313000	0.20887	GCG		0.687	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		G	1235261	C	G	1235261	3	3	19	1	0	0	0	0	1	0	0	0	120	710	25	5	1880	5	ACAP3	1	1235261	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		1235261	248015360	1	1358											
TAS1R1	80835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	6634949	6634949	+	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	ccttctctgcccaggtgggcGatgagaggatgcagtgcctc	6	9	14	12	1	1	1	0	1	1	1	3	4	1	2	3	3	3	1	3	3	0	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:6634949G>A	ENST00000333172.6	+	3	950	c.757G>A	c.(757-759)Gat>Aat	p.D253N	TAS1R1_ENST00000328191.4_Missense_Mutation_p.D253N|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	253					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)		CCAGGTGGGCGATGAGAGGAT	0.612																																						.											0													73	75	74					1																	6634949		2203	4300	6503	SO:0001583	missense	80835				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.757G>A	1.37:g.6634949G>A	ENSP00000331867:p.Asp253Asn		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	8.317	0.823442	0.16678	.	.	ENSG00000173662	ENST00000333172;ENST00000328191	D;D	0.83591	-1.74;-1.74	5.4	4.49	0.54785	Extracellular ligand-binding receptor (1);	1.286080	0.04829	N	0.438363	T	0.75170	0.3813	L	0.37800	1.135	0.09310	N	1	B;B	0.31879	0.171;0.344	B;B	0.27608	0.051;0.081	T	0.59974	-0.7353	10	0.18276	T	0.48	.	8.0489	0.30566	0.1913:0.0:0.8087:0.0	.	253;253	Q7RTX1-3;Q7RTX1	.;TS1R1_HUMAN	N	253	ENSP00000331867:D253N;ENSP00000327705:D253N	ENSP00000327705:D253N	D	+	1	0	TAS1R1	6557536	0.014000	0.17966	0.015000	0.15790	0.009000	0.06853	1.803000	0.38863	1.249000	0.43950	0.655000	0.94253	GAT		0.612	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			A	6634949	G	A	6634949	3	1	19	1	0	0	0	0	1	0	0	0	15559	1058	37	1	767	1	TAS1R1	1	6634949	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	5399688	6634949	242615672	2	1359											
PER3	8863	broad.mit.edu	37	chr1	7887663	7887663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgatatcaccctcaatgTcgtcagcaatgagtccaact	11	10	7	13	2	3	1	3	1	0	0	5	2	4	1	2	0	3	1	2	0	4	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:7887663T>C	ENST00000361923.2	+	17	2825	c.2650T>C	c.(2650-2652)Tcg>Ccg	p.S884P	PER3_ENST00000377532.3_Missense_Mutation_p.S892P|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	884	Pro-rich.				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)		ACCCTCAATGTCGTCAGCAAT	0.567																																						.											0													123	117	119					1																	7887663		2203	4300	6503	SO:0001583	missense	8863			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.2650T>C	1.37:g.7887663T>C	ENSP00000355031:p.Ser884Pro		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	T	3.590	-0.083812	0.07141	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.09630	2.96;2.96	0.109	0.109	0.14578	.	124.353000	0.03105	U	0.161708	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.005;0.003;0.005;0.005	B;B;B;B	0.12156	0.006;0.003;0.007;0.006	T	0.34675	-0.9819	9	0.23891	T	0.37	.	.	.	.	.	884;892;892;884	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	P	892;884;95	ENSP00000366755:S892P;ENSP00000355031:S884P	ENSP00000355031:S884P	S	+	1	0	PER3	7810250	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.198000	0.17217	0.156000	0.19299	0.155000	0.16302	TCG		0.567	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		C	7887663	T	C	7887663	3	2	19	1	0	0	0	0	1	0	0	0	11731	1667	58	2	2716	2	PER3	1	7887663	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	1252714	7887663	241362958	3	1360											
RERE	473	broad.mit.edu	37	chr1	8424203	8424203	+	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	ggtttgaacataaacggtggCgggtccacgggcttctcaat	9	10	13	9	3	1	1	1	1	1	0	3	1	2	1	1	5	2	2	1	5	4	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:8424203C>T	ENST00000337907.3	-	16	2287	c.1653G>A	c.(1651-1653)ccG>ccA	p.P551P	RERE_ENST00000460659.1_5'Flank|RERE_ENST00000377464.1_Silent_p.P283P|RERE_ENST00000400908.2_Silent_p.P551P|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	551					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)		TAAACGGTGGCGGGTCCACGG	0.602																																						.											0													85	81	82					1																	8424203		2203	4300	6503	SO:0001819	synonymous_variant	473			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.1653G>A	1.37:g.8424203C>T			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.602	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			T	8424203	C	T	8424203	2	4	19	1	0	0	0	0	0	0	0	1	13231	755	27	1		1	RERE	1	8424203	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	536540	8424203	240826418	4	1361											
TCHH	7062	bcgsc.ca	37	chr1	152082364	152082364	+	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	gcagctcctcttcctcccgaCattgcctctcccgctcctgg	3	11	7	20	2	2	0	0	0	2	0	7	1	6	0	6	1	2	3	6	1	0	2	rs372810614		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:152082364C>T	ENST00000368804.1	-	2	3328	c.3329G>A	c.(3328-3330)tGt>tAt	p.C1110Y		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1110	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.C1110Y(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)			ttcctccCGACATTGCCTCTC	0.597																																						.											1	Substitution - Missense(1)	endometrium(1)											94	95	94					1																	152082364		1970	4147	6117	SO:0001583	missense	7062			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.3329G>A	1.37:g.152082364C>T	ENSP00000357794:p.Cys1110Tyr		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	4.077	0.012201	0.07912	.	.	ENSG00000159450	ENST00000368804	T	0.04454	3.62	2.96	-4.42	0.03579	.	.	.	.	.	T	0.00328	0.0010	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43702	-0.9375	9	0.02654	T	1	.	3.7854	0.08698	0.4847:0.1083:0.0:0.407	.	1110	Q07283	TRHY_HUMAN	Y	1110	ENSP00000357794:C1110Y	ENSP00000357794:C1110Y	C	-	2	0	TCHH	150348988	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.189000	0.17037	-1.366000	0.02155	-0.598000	0.04106	TGT		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152082364	C	T	152082364	3	4	19	1	0	0	0	0	1	0	0	0	15697	478	17	4	2506	4	TCHH	1	152082364	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	143658161	152082364	97168257	5	1362											
DARC	2532	mdanderson.org	37	chr1	159175354	159175354	+	Missense_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	cttcccagatggagactatgGtgccaacctggaagcagctg	10	8	12	11	0	0	2	0	0	0	2	1	4	1	3	3	3	4	2	3	3	3	2	rs12075	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:159175354G>A	ENST00000368122.2	+	2	804	c.125G>A	c.(124-126)gGt>gAt	p.G42D	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.G42D|DARC_ENST00000368121.2_Missense_Mutation_p.G44D	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		42			G -> D (antigen Fy(b); dbSNP:rs12075). {ECO:0000269|PubMed:7663520, ECO:0000269|PubMed:7705836, ECO:0000269|PubMed:8248172, ECO:0000269|PubMed:9731074, ECO:0000269|PubMed:9886340}.		chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGAGACTATGGTGCCAACCTG	0.527													A|||	2707	0.540535	0.9811	0.5389	5008	,	,		20455	0.0774		0.6024	False		,,,				2504	0.3599					.											0			GRCh37	CM950484	DARC	M	rs12075	A	ASP/GLY,ASP/GLY	4037,369	187.8+/-214.3	1849,339,15	95	87	90	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	131,125	-1.1	0	1	dbSNP_52	90	4967,3633	523.8+/-380.4	1441,2085,774	yes	missense,missense	DARC	NM_001122951.2,NM_002036.3	94,94	3290,2424,789	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	42.2442,8.3749,30.7704	benign,benign	44/339,42/337	159175354	9004,4002	2203	4300	6503	SO:0001583	missense	2532																														ENST00000368122.2:c.125G>A	1.37:g.159175354G>A	ENSP00000357104:p.Gly42Asp		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	CCDS1183.1	1176	0.5384615384615384	474	0.9634146341463414	209	0.5773480662983426	47	0.08216783216783216	446	0.5883905013192612	A	0.168	-1.074849	0.01903	0.916251	0.577558	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.22336	4.47;4.47;1.96;4.46	4.36	-1.07	0.09968	.	.	.	.	.	T	0.01287	0.0042	N	0.02916	-0.46	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42396	-0.9454	8	0.02654	T	1	-10.5139	3.1012	0.06327	0.4283:0.0:0.1875:0.3841	rs12075;rs3171130;rs61460694;rs12075	44;42	Q5Y7A1;Q16570	.;DUFFY_HUMAN	D	42;42;42;44;44	ENSP00000357104:G42D;ENSP00000441985:G42D;ENSP00000398406:G44D;ENSP00000357103:G44D	ENSP00000352341:G42D	G	+	2	0	DARC	157441978	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.283000	0.18846	-0.484000	0.06763	-0.361000	0.07541	GGT		0.527	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			A	159175354	G	A	159175354	3	1	19	1	0	0	0	0	1	0	0	0	4240	1261	44	3	158	3	DARC	1	159175354	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	7092990	159175354	90075267	6	1363											
NUAK2	81788	ucsc.edu;bcgsc.ca	37	chr1	205274455	205274455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacccagggaccagctgTccacctgagagagatggggg	11	4	15	11	0	0	2	0	1	0	2	1	6	1	3	4	3	2	1	4	3	1	0			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:205274455T>C	ENST00000367157.3	-	6	821	c.695A>G	c.(694-696)gAc>gGc	p.D232G		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)			GGACCAGCTGTCCACCTGAGA	0.552																																						.											0													58	51	53					1																	205274455		2203	4300	6503	SO:0001583	missense	81788			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.695A>G	1.37:g.205274455T>C	ENSP00000356125:p.Asp232Gly			Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951381	0.92660	.	.	ENSG00000163545	ENST00000367157	T	0.75589	-0.95	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47852	D	0.000215	D	0.92861	0.7729	H	0.99732	4.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95977	0.8974	10	0.87932	D	0	.	16.0444	0.80711	0.0:0.0:0.0:1.0	.	232	Q9H093	NUAK2_HUMAN	G	232	ENSP00000356125:D232G	ENSP00000356125:D232G	D	-	2	0	NUAK2	203541078	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.040000	0.89188	2.271000	0.75665	0.459000	0.35465	GAC		0.552	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		C	205274455	T	C	205274455	3	2	19	1	0	0	0	0	1	0	0	0	10713	1667	58	2	1199	2	NUAK2	1	205274455	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	46099101	205274455	43976166	7	1364											
C1orf35	79169	broad.mit.edu	37	chr1	228289842	228289843	+	Frame_Shift_Ins	INS	-	-	C																															gaggctgccgaggtcccgggINScccgccgctctctacgcggt																								rs1128456	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:228289842_228289843insC	ENST00000272139.4	-	6	705_706	c.471_472insG	c.(469-474)gggcccfs	p.P158fs	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	158							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GAGGTCCCGGGCCCGCCGCTCT	0.743																																						.											0																																										SO:0001589	frameshift_variant	79169			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.472dupG	1.37:g.228289845_228289845dupC	ENSP00000272139:p.Pro158fs		Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Frame_Shift_Ins	INS	ENST00000272139.4	37	CCDS1566.1																																																																																				0.743	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		C	228289843	-	C	228289842	7	5	19	1	0	1	1	0	0	0	0	0	2038	1203	42	0	331	0	C1orf35	1	228289842	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	23015387	228289842	20960779	8	1365											
GALNT2	2590	broad.mit.edu;mdanderson.org	37	chr1	230372423	230372423	+	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	tagctgaggacggggctctcTtggggaaaattgagaaagtg	11	9	16	5	1	1	2	0	2	1	1	2	5	1	4	0	5	1	2	0	5	4	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:230372423T>C	ENST00000366672.4	+	6	631	c.559T>C	c.(559-561)Ttg>Ctg	p.L187L	GALNT2_ENST00000543760.1_Silent_p.L149L|GALNT2_ENST00000541865.1_Silent_p.L97L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	187	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CGGGGCTCTCTTGGGGAAAAT	0.413																																						.											0													97	99	98					1																	230372423		2203	4300	6503	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.559T>C	1.37:g.230372423T>C			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.413	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		C	230372423	T	C	230372423	2	2	19	1	0	0	0	0	0	0	0	1	6213	1606	56	2		2	GALNT2	1	230372423	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	2082581	230372423	18878198	9	1366											
OR2T4	127074	broad.mit.edu	37	chr1	248524966	248524967	+	Frame_Shift_Ins	INS	-	-	G																															tcagacaatccaaacatccaINSatggccaatatcacctggat																								rs561405021|rs200915140	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:248524966_248524967insG	ENST00000366475.1	+	1	84_85	c.84_85insG	c.(85-87)atgfs	p.M29fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|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)			CCAAACATCCAATGGCCAATAT	0.5																																						.											0																																										SO:0001589	frameshift_variant	127074			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.248524966_248524967insG	ENSP00000355431:p.Met29fs		Q6IEZ8	Frame_Shift_Ins	INS	ENST00000366475.1	37	CCDS31113.1																																																																																				0.5	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		G	248524967	-	G	248524966	7	5	19	1	0	1	1	0	0	0	0	0	11027	117	5	0	86	0	OR2T4	1	248524966	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	18152543	248524966	725655	10	1367	34	2									
OR2T4	127074	bcgsc.ca	37	chr1	248524967	248524967	+	Missense_Mutation	SNP	A	A	C																															tcagacaatccaaacatccaAtggccaatatcacctggatg																								rs200915140	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:248524967A>C	ENST00000366475.1	+	1	85	c.85A>C	c.(85-87)Atg>Ctg	p.M29L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|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)			CAAACATCCAATGGCCAATAT	0.498																																						.											0													108	92	98					1																	248524967		2200	4243	6443	SO:0001583	missense	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.85A>C	1.37:g.248524967A>C	ENSP00000355431:p.Met29Leu		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	7.539	0.660235	0.14645	.	.	ENSG00000196944	ENST00000366475	T	0.01505	4.82	1.03	1.03	0.20045	.	0.000000	0.50627	D	0.000118	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47142	-0.9140	10	0.59425	D	0.04	.	1.7485	0.02967	0.4978:0.0:0.2193:0.2829	.	29	Q8NH00	OR2T4_HUMAN	L	29	ENSP00000355431:M29L	ENSP00000355431:M29L	M	+	1	0	OR2T4	246591590	0.804000	0.28969	0.451000	0.26982	0.234000	0.25298	0.925000	0.28791	0.382000	0.24878	0.076000	0.15429	ATG		0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248524967	A	C	248524967	3	2	19	1	0	0	0	0	1	0	0	0	11027	101	4	5	87	5	OR2T4	1	248524967	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	1	248524967	725654	11	1368	34	2									
RANBP2	5903	broad.mit.edu	37	chr2	109383357	109383357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgccaaactagagcAgttggcagcaaaatttaaaa	16	9	10	6	0	0	2	0	1	0	1	0	2	0	2	1	2	4	4	1	2	6	4			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:109383357A>G	ENST00000283195.6	+	20	6488	c.6362A>G	c.(6361-6363)cAg>cGg	p.Q2121R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2121	RanBD1 2. {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)	p.Q2121R(6)	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						AAACTAGAGCAGTTGGCAGCA	0.453																																						.											6	Substitution - Missense(6)	skin(6)											117	126	123					2																	109383357		2184	4241	6425	SO:0001583	missense	5903			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.6362A>G	2.37:g.109383357A>G	ENSP00000283195:p.Gln2121Arg		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598113	0.46318	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.46451	0.87	5.6	5.6	0.85130	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.58736	0.2143	L	0.51422	1.61	0.44098	D	0.996863	D	0.76494	0.999	D	0.83275	0.996	T	0.55611	-0.8114	9	0.35671	T	0.21	-3.8912	15.7943	0.78398	1.0:0.0:0.0:0.0	.	2121	P49792	RBP2_HUMAN	R	1145;2121	ENSP00000283195:Q2121R	ENSP00000283195:Q2121R	Q	+	2	0	RANBP2	108749789	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.339000	0.96797	2.119000	0.64992	0.455000	0.32223	CAG		0.453	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109383357	A	G	109383357	3	3	19	1	0	0	0	0	1	0	0	0	13028	188	7	2	6440	2	RANBP2	2	109383357	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10		109383357	133816016	12	1369											
POTEE	445582	mdanderson.org	37	chr2	132021815	132021815	+	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	ttcgagcaggagatggccacGgcggcctccagctcctccct	6	7	12	16	3	0	1	0	0	0	1	4	3	3	1	5	4	2	2	5	4	0	1	rs369764537	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:132021815G>A	ENST00000356920.5	+	15	2881	c.2787G>A	c.(2785-2787)acG>acA	p.T929T	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	929	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGATGGCCACGGCGGCCTCCA	0.617													.|||	283	0.0565096	0.0893	0.0447	5008	,	,		43636	0.0069		0.0795	False		,,,				2504	0.0481					.											0													141	156	151					2																	132021815		2201	4297	6498	SO:0001819	synonymous_variant	445582			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.2787G>A	2.37:g.132021815G>A			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	CCDS46414.1																																																																																				0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021815	G	A	132021815	2	1	19	1	0	0	0	0	0	0	0	1	12264	1103	39	1		1	POTEE	2	132021815	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	22638458	132021815	111177558	13	1370											
ZDBF2	57683	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	207171302	207171302	+	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	ctgaccagtctcaagtagccGaaatagagcgtcagaaagtg	14	7	11	9	2	2	3	2	1	1	2	3	4	2	3	2	0	2	1	2	0	5	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:207171302G>A	ENST00000374423.3	+	5	2436	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	684							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						TCAAGTAGCCGAAATAGAGCG	0.443																																						.											0													71	71	71					2																	207171302		1896	4124	6020	SO:0001583	missense	57683			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.2050G>A	2.37:g.207171302G>A	ENSP00000363545:p.Glu684Lys		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	9.409	1.079934	0.20309	.	.	ENSG00000204186	ENST00000374423	T	0.58652	0.32	3.75	1.97	0.26223	.	0.000000	0.39083	N	0.001470	T	0.31420	0.0796	L	0.31526	0.94	0.09310	N	1	P	0.38223	0.623	B	0.25405	0.06	T	0.15492	-1.0435	10	0.13853	T	0.58	.	6.1828	0.20480	0.2301:0.0:0.7699:0.0	.	684	Q9HCK1	ZDBF2_HUMAN	K	684	ENSP00000363545:E684K	ENSP00000363545:E684K	E	+	1	0	ZDBF2	206879547	0.616000	0.27035	0.003000	0.11579	0.001000	0.01503	1.340000	0.33896	0.585000	0.29608	-0.119000	0.15052	GAA		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207171302	G	A	207171302	3	1	19	1	0	0	0	0	1	0	0	0	17596	1059	37	1	2060	1	ZDBF2	2	207171302	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	75149487	207171302	36028071	14	1371											
SMARCAL1	50485	broad.mit.edu	37	chr2	217340073	217340073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttccaactgtcggagAggcatgctgtggccgtgctg	7	9	15	10	2	0	1	0	0	0	1	2	2	1	1	2	3	4	5	2	3	1	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:217340073A>G	ENST00000357276.4	+	15	2656	c.2326A>G	c.(2326-2328)Agg>Ggg	p.R776G	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R776G	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	776	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ACTGTCGGAGAGGCATGCTGT	0.607									Schimke Immuno-Osseous Dysplasia																													.											0													129	110	117					2																	217340073		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	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.2326A>G	2.37:g.217340073A>G	ENSP00000349823:p.Arg776Gly		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	A	3.685	-0.064660	0.07273	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.91894	-2.93;-2.93;-0.91	5.06	1.2	0.21068	Helicase, C-terminal (3);	0.413963	0.27544	N	0.018889	T	0.76076	0.3937	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61922	-0.6963	10	0.14252	T	0.57	-4.4374	4.8558	0.13559	0.6577:0.1566:0.1857:0.0	.	776	Q9NZC9	SMAL1_HUMAN	G	776;776;618	ENSP00000349823:R776G;ENSP00000350940:R776G;ENSP00000375974:R618G	ENSP00000349823:R776G	R	+	1	2	SMARCAL1	217048318	0.156000	0.22821	0.127000	0.21898	0.067000	0.16453	0.614000	0.24314	0.047000	0.15862	0.528000	0.53228	AGG		0.607	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			G	217340073	A	G	217340073	3	3	19	1	0	0	0	0	1	0	0	0	14773	295	11	2	2376	2	SMARCAL1	2	217340073	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	10168771	217340073	25859300	15	1372											
GLB1L	79411	broad.mit.edu;mdanderson.org	37	chr2	220102299	220102299	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaattggaaatgttttggAgtagaatgtggggccagaag	14	11	14	2	0	0	2	0	0	0	2	0	4	0	4	1	4	0	2	1	4	6	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:220102299A>G	ENST00000295759.7	-	16	1937	c.1624T>C	c.(1624-1626)Tcc>Ccc	p.S542P	GLB1L_ENST00000392089.2_Missense_Mutation_p.S542P|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.S452P|GLB1L_ENST00000409640.1_Missense_Mutation_p.S452P			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	542					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGTTTTGGAGTAGAATGTG	0.468																																						.											0													80	82	81					2																	220102299		2203	4300	6503	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1624T>C	2.37:g.220102299A>G	ENSP00000295759:p.Ser542Pro		Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	9.019	0.984337	0.18889	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.09	5.09	0.68999	Galactose-binding domain-like (1);	0.447334	0.23904	N	0.043415	D	0.94026	0.8086	L	0.54323	1.7	0.42832	D	0.994029	D;D	0.71674	0.998;0.965	P;P	0.62649	0.905;0.579	D	0.92708	0.6180	10	0.37606	T	0.19	-17.0788	8.4212	0.32700	0.7088:0.0:0.0:0.2912	.	452;542	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	P	542;452;542;452	ENSP00000295759:S542P;ENSP00000386354:S452P;ENSP00000375939:S542P;ENSP00000348628:S452P	ENSP00000295759:S542P	S	-	1	0	GLB1L	219810543	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	2.209000	0.42806	2.129000	0.65627	0.533000	0.62120	TCC		0.468	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		G	220102299	A	G	220102299	3	3	19	1	0	0	0	0	1	0	0	0	6428	304	11	2	348	2	GLB1L	2	220102299	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	2762226	220102299	23097074	16	1373											
ZCWPW2	152098	mdanderson.org;bcgsc.ca	37	chr3	28533617	28533617	+	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	ccatgtttcattgtcttacaGataaatccgaaacacatgac	14	12	5	10	1	2	2	1	1	1	1	3	3	3	2	2	0	2	1	2	0	4	4			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:28533617G>A	ENST00000383768.2	+	6	798		c.e6-1		ZCWPW2_ENST00000421010.1_Splice_Site			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2								zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTGTCTTACAGATAAATCCGA	0.294																																						.											0													54	53	53					3																	28533617		2203	4300	6503	SO:0001630	splice_region_variant	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.611-1G>A	3.37:g.28533617G>A				Splice_Site	SNP	ENST00000383768.2	37	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140642	0.37825	.	.	ENSG00000206559	ENST00000383768;ENST00000421010;ENST00000419130	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0497	0.64727	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZCWPW2	28508621	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	4.393000	0.59665	2.444000	0.82710	0.650000	0.86243	.		0.294	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384	Intron	A	28533617	G	A	28533617	5	1	19	1	0	0	0	0	0	0	1	0	17595	956	33	4	624	4	ZCWPW2	3	28533617	Splice_Site	SNP	G	TCGA-KL-8341-01A-11D-2310-10		28533617	169488813	17	1374											
ZCWPW2	152098	mdanderson.org	37	chr3	28533652	28533652	+	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	catgacaaagttgctgcactGgtcaagaaaagggtaagatt	15	9	11	6	0	1	3	1	1	0	2	1	3	1	3	0	2	2	4	0	2	5	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:28533652G>A	ENST00000383768.2	+	6	833	c.645G>A	c.(643-645)ctG>ctA	p.L215L	ZCWPW2_ENST00000421010.1_Silent_p.L215L			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	215							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTGCTGCACTGGTCAAGAAAA	0.274																																						.											0													50	48	49					3																	28533652		2203	4300	6503	SO:0001819	synonymous_variant	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.645G>A	3.37:g.28533652G>A				Silent	SNP	ENST00000383768.2	37	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.746957	0.00669	.	.	ENSG00000206559	ENST00000419130	.	.	.	4.72	-1.03	0.10102	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	-0.0659	3.4655	0.07548	0.4763:0.0:0.3375:0.1862	.	.	.	.	S	100	.	.	G	+	1	0	ZCWPW2	28508656	0.200000	0.23398	0.055000	0.19348	0.007000	0.05969	0.266000	0.18534	-0.063000	0.13065	-0.175000	0.13238	GGT		0.274	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		A	28533652	G	A	28533652	2	1	19	1	0	0	0	0	0	0	0	1	17595	1335	47	4		4	ZCWPW2	3	28533652	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	35	28533652	169488778	18	1375											
GADL1	339896	broad.mit.edu;mdanderson.org	37	chr3	30875422	30875422	+	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	tgggttccaggccacagagtCagccctattgtttaaacaaa	12	10	9	10	0	1	1	1	0	0	1	2	1	2	1	3	2	2	2	3	2	4	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:30875422C>T	ENST00000282538.5	-	11	1123	c.973G>A	c.(973-975)Gac>Aac	p.D325N	GADL1_ENST00000454381.3_Missense_Mutation_p.D325N	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	325					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GCCACAGAGTCAGCCCTATTG	0.443																																						.											0													71	71	71					3																	30875422		2203	4300	6503	SO:0001583	missense	339896			AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.973G>A	3.37:g.30875422C>T	ENSP00000282538:p.Asp325Asn			Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	9.606	1.130022	0.21041	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.59364	0.27;0.27	5.87	4.09	0.47781	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.158366	0.52532	N	0.000077	T	0.49406	0.1555	L	0.52011	1.625	0.37537	D	0.918172	B	0.13594	0.008	B	0.22753	0.041	T	0.50171	-0.8859	10	0.26408	T	0.33	.	10.3869	0.44145	0.0:0.7953:0.0:0.2047	.	325	Q6ZQY3	GADL1_HUMAN	N	325	ENSP00000282538:D325N;ENSP00000427059:D325N	ENSP00000282538:D325N	D	-	1	0	GADL1	30850426	0.745000	0.28261	0.989000	0.46669	0.920000	0.55202	0.951000	0.29135	1.498000	0.48600	-0.140000	0.14226	GAC		0.443	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		T	30875422	C	T	30875422	3	4	19	1	0	0	0	0	1	0	0	0	6185	826	29	4	612	4	GADL1	3	30875422	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	2341770	30875422	167147008	19	1376											
ERC2	26059	broad.mit.edu;hgsc.bcm.edu	37	chr3	55984500	55984502	+	In_Frame_Del	DEL	CTT	CTT	-																															gctgtcttctcgcctgcgcaCttcttctagtaactgagcat																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:55984500_55984502delCTT	ENST00000288221.6	-	13	2609_2611	c.2354_2356delAAG	c.(2353-2358)gaagtg>gtg	p.E785del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	785						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGCCTGCGCACTTCTTCTAGTAA	0.433																																						.											0																																										SO:0001651	inframe_deletion	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2354_2356delAAG	3.37:g.55984503_55984505delCTT	ENSP00000288221:p.Glu785del		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	CCDS46851.1																																																																																				0.433	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		-	55984502	CTT	-	55984500	7	5	19	1	0	1	0	1	0	0	0	0	5211	565	20	0	537	0	ERC2	3	55984500	In_Frame_Del	DEL	CTT	TCGA-KL-8341-01A-11D-2310-10	25109078	55984500	142037930	20	1377	35	2									
ERC2	26059	bcgsc.ca	37	chr3	55984501	55984503	+	In_Frame_Del	DEL	CTT	CTT	-																															ctgtcttctcgcctgcgcacTtcttctagtaactgagcatt																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:55984501_55984503delCTT	ENST00000288221.6	-	13	2608_2610	c.2353_2355delAAG	c.(2353-2355)aagdel	p.K785del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	785						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCTGCGCACTTCTTCTAGTAAC	0.433																																						.											0																																										SO:0001651	inframe_deletion	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2353_2355delAAG	3.37:g.55984501_55984503delCTT	ENSP00000288221:p.Lys785del		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	CCDS46851.1																																																																																				0.433	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		-	55984503	CTT	-	55984501	7	5	19	1	0	1	0	1	0	0	0	0	5211	1606	56	0	538	0	ERC2	3	55984501	In_Frame_Del	DEL	CTT	TCGA-KL-8341-01A-11D-2310-10	1	55984501	142037929	21	1378	35	2									
FAM116A	201627	ucsc.edu;bcgsc.ca	37	chr3	57631404	57631404	+	Missense_Mutation	SNP	T	T	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	ttacggagcttgggtacgggTagtatattctttgaattcac	9	15	11	6	2	2	1	1	1	1	0	2	2	2	2	0	3	3	4	0	3	6	9			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:57631404T>C	ENST00000311128.5	-	11	1091	c.1021A>G	c.(1021-1023)Acc>Gcc	p.T341A	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	341					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)										TGGGTACGGGTAGTATATTCT	0.328																																						.											0													98	100	99					3																	57631404		2203	4299	6502	SO:0001583	missense	201627			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.1021A>G	3.37:g.57631404T>C	ENSP00000311401:p.Thr341Ala		Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.92|16.92	3.256206|3.256206	0.59321|0.59321	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000477344	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69851|0.69851	0.3157|0.3157	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.60117|.	0.869|.	T|T	0.67277|0.67277	-0.5711|-0.5711	9|5	0.25751|.	T|.	0.34|.	-28.4431|-28.4431	16.286|16.286	0.82722|0.82722	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	341|.	Q8IWF6|.	F116A_HUMAN|.	A|C	341|109	.|.	ENSP00000311401:T341A|.	T|Y	-|-	1|2	0|0	FAM116A|FAM116A	57606444|57606444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.050000|7.050000	0.76620|0.76620	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	ACC|TAC		0.328	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		C	57631404	T	C	57631404	3	2	19	1	0	0	0	0	1	0	0	0	5407	1638	57	2	845	2	FAM116A	3	57631404	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	1646903	57631404	140391026	22	1379											
OR5H6	79295	mdanderson.org	37	chr3	97983602	97983602	+	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	atgaccaatgaactatgcatTcagctattagtcttgtcatt	12	15	6	8	0	3	2	2	2	1	0	3	2	3	2	1	0	3	2	1	0	5	6	rs75354046	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:97983602T>C	ENST00000383696.2	+	1	515	c.474T>C	c.(472-474)atT>atC	p.I158I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTATGCATTCAGCTATTAG	0.358																																						.											0													109	102	104					3																	97983602		2203	4299	6502	SO:0001819	synonymous_variant	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.474T>C	3.37:g.97983602T>C			Q6IF88	Silent	SNP	ENST00000383696.2	37	CCDS33800.1																																																																																				0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			C	97983602	T	C	97983602	2	2	19	1	0	0	0	0	0	0	0	1	11163	1771	62	4		4	OR5H6	3	97983602	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	40352198	97983602	100038828	23	1380											
HEG1	57493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	124692706	124692706	+	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	atacggggacatttggaaatCtccacttttgaagatgagtt	12	13	10	6	1	1	3	0	2	1	1	2	5	1	5	1	3	1	1	1	3	3	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:124692706C>G	ENST00000311127.4	-	16	3932	c.3865G>C	c.(3865-3867)Gat>Cat	p.D1289H		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1289					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)	p.D1289Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATTTGGAAATCTCCACTTTTG	0.373																																						.											1	Substitution - Missense(1)	lung(1)											132	129	130					3																	124692706		1826	4087	5913	SO:0001583	missense	57493			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.3865G>C	3.37:g.124692706C>G	ENSP00000311502:p.Asp1289His		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491807	0.84962	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.93247	-3.19;0.37	4.97	4.97	0.65823	.	0.000000	0.39834	U	0.001241	D	0.93956	0.8065	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95217	0.8330	10	0.87932	D	0	.	18.4352	0.90643	0.0:1.0:0.0:0.0	.	1289	Q9ULI3	HEG1_HUMAN	H	1289;173	ENSP00000311502:D1289H;ENSP00000417648:D173H	ENSP00000311502:D1289H	D	-	1	0	HEG1	126175396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.273000	0.78527	2.577000	0.86979	0.655000	0.94253	GAT		0.373	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		G	124692706	C	G	124692706	3	3	19	1	0	0	0	0	1	0	0	0	7044	913	32	5	288	5	HEG1	3	124692706	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	26709104	124692706	73329724	24	1381											
PIK3CB	5291	broad.mit.edu	37	chr3	138433374	138433374	+	Missense_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	tagttttcgttgatttcttcGtttttactttatccaaaact	8	22	4	7	2	1	1	0	1	1	0	4	1	2	1	1	0	2	3	1	0	5	11			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:138433374G>T	ENST00000477593.1	-	8	1311	c.1238C>A	c.(1237-1239)aCg>aAg	p.T413K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413K|PIK3CB_ENST00000544716.1_5'Flank			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	413	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)	TGATTTCTTCGTTTTTACTTT	0.318																																						.											0													157	147	150					3																	138433374		2203	4300	6503	SO:0001583	missense	5291				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.1238C>A	3.37:g.138433374G>T	ENSP00000418143:p.Thr413Lys		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672458	0.29693	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.69040	-0.37;-0.37	5.46	4.59	0.56863	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.229090	0.43416	D	0.000566	T	0.28499	0.0705	N	0.00642	-1.3	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.30995	-0.9959	10	0.06099	T	0.92	-12.2416	8.7016	0.34329	0.0764:0.0:0.7742:0.1494	.	413;17	P42338;B4DZI3	PK3CB_HUMAN;.	K	413	ENSP00000418143:T413K;ENSP00000289153:T413K	ENSP00000289153:T413K	T	-	2	0	PIK3CB	139916064	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	5.529000	0.67135	1.437000	0.47472	0.650000	0.86243	ACG		0.318	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			T	138433374	G	T	138433374	3	4	19	1	0	0	0	0	1	0	0	0	11914	1145	40	5	2036	5	PIK3CB	3	138433374	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	13740668	138433374	59589056	25	1382											
CPA3	1359	broad.mit.edu;mdanderson.org	37	chr3	148583133	148583133	+	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	gtgggtttgattgctaccacTcttgcaattgctcctgtccg	5	15	10	11	1	1	1	0	1	1	0	3	1	3	1	3	1	4	4	3	1	2	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:148583133T>C	ENST00000296046.3	+	1	91	c.39T>C	c.(37-39)acT>acC	p.T13T	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	13					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTGCTACCACTCTTGCAATTG	0.458																																						.											0													239	201	214					3																	148583133		2203	4300	6503	SO:0001819	synonymous_variant	1359				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.39T>C	3.37:g.148583133T>C			Q96E94	Silent	SNP	ENST00000296046.3	37	CCDS3138.1																																																																																				0.458	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		C	148583133	T	C	148583133	2	2	19	1	0	0	0	0	0	0	0	1	3791	1538	54	2		2	CPA3	3	148583133	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	10149759	148583133	49439297	26	1383											
GAK	2580	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	843563	843563	+	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	tcgtacggctgccccgcagcCtatgggtgacaggcggtgta	6	8	15	12	4	0	1	0	1	0	0	1	1	0	1	3	4	3	4	3	4	3	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:843563C>T	ENST00000314167.4	-	28	3945		c.e28-1		GAK_ENST00000509566.1_Splice_Site|GAK_ENST00000511163.1_Splice_Site	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						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)		GCCCCGCAGCCTATGGGTGAC	0.677																																						.											0													37	36	36					4																	843563		2202	4300	6502	SO:0001630	splice_region_variant	2580			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.3835-1G>A	4.37:g.843563C>T			Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864791	0.32977	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163;ENST00000511980	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2715	0.73705	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAK	833563	1.000000	0.71417	0.985000	0.45067	0.013000	0.08279	7.295000	0.78780	2.167000	0.68274	0.643000	0.83706	.		0.677	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Intron	T	843563	C	T	843563	5	4	19	1	0	0	0	0	0	0	1	0	6195	695	24	4	105	4	GAK	4	843563	Splice_Site	SNP	C	TCGA-KL-8341-01A-11D-2310-10		843563	190310713	27	1384											
ENAM	10117	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr4	71509879	71509879	+	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	accagtcctctgtatacagaCggtagtcataccaagcagac	13	8	8	12	1	2	2	1	0	1	2	3	2	3	2	3	1	3	3	3	1	5	4	rs143333113		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:71509879C>T	ENST00000396073.3	+	9	3017	c.2736C>T	c.(2734-2736)gaC>gaT	p.D912D	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	912					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.D912D(2)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTATACAGACGGTAGTCATA	0.493													C|||	1	0.000199681	0	0	5008	,	,		20689	0.001		0	False		,,,				2504	0					.											2	Substitution - coding silent(2)	large_intestine(1)|central_nervous_system(1)						C		0,4406		0,0,2203	98	86	90		2736	3.2	0.7	4	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ENAM	NM_031889.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		912/1143	71509879	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2736C>T	4.37:g.71509879C>T			Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	CCDS3544.2																																																																																				0.493	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		T	71509879	C	T	71509879	2	4	19	1	0	0	0	0	0	0	0	1	5112	535	19	1		1	ENAM	4	71509879	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	70666316	71509879	119644397	28	1385											
NDST4	64579	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	115998171	115998171	+	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	caatgttcgaaaacttctccGaagtttcacaataagattca	15	12	5	9	2	3	1	2	0	1	1	5	3	3	1	1	0	1	2	1	0	6	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:115998171G>A	ENST00000264363.2	-	2	700	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	8					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)	p.R8W(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAACTTCTCCGAAGTTTCACA	0.348																																						.											1	Substitution - Missense(1)	cervix(1)											21	22	22					4																	115998171		2202	4299	6501	SO:0001583	missense	64579			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.22C>T	4.37:g.115998171G>A	ENSP00000264363:p.Arg8Trp		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692943	0.68271	.	.	ENSG00000138653	ENST00000264363	T	0.38722	1.12	5.12	5.12	0.69794	.	0.263218	0.37669	N	0.001986	T	0.42471	0.1204	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	P	0.48677	0.586	T	0.34625	-0.9821	10	0.52906	T	0.07	.	13.5255	0.61593	0.0:0.0:0.8439:0.1561	.	8	Q9H3R1	NDST4_HUMAN	W	8	ENSP00000264363:R8W	ENSP00000264363:R8W	R	-	1	2	NDST4	116217620	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	6.609000	0.74173	2.377000	0.81083	0.411000	0.27672	CGG		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		A	115998171	G	A	115998171	3	1	19	1	0	0	0	0	1	0	0	0	10258	1057	37	1	2648	1	NDST4	4	115998171	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	44488292	115998171	75156105	29	1386											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811109	+	In_Frame_Ins	INS	-	-	TGT																															gctgctgctgctgctgctgcINStgctgctgctgctgttgctg																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:140811108_140811109insTGT	ENST00000509479.2	-	2	2337_2338	c.1481_1482insACA	c.(1480-1482)cag>caACAg	p.494_494Q>QQ	MAML3_ENST00000398940.1_In_Frame_Ins_p.33_33Q>QQ|MAML3_ENST00000327122.5_In_Frame_Ins_p.338_338Q>QQ	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)					gctgctgctgctgctgctgctg	0.54																																						.											0																																										SO:0001652	inframe_insertion	55534			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.1481_1482insACA	4.37:g.140811108_140811109insTGT	ENSP00000421180:p.Gln510dup			In_Frame_Ins	INS	ENST00000509479.2	37	CCDS54805.1																																																																																				0.54	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			TGT	140811109	-	TGT	140811108	7	5	19	1	0	1	1	0	0	0	0	0	9207	796	28	0	1942	0	MAML3	4	140811108	In_Frame_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	24812937	140811108	50343168	30	1387											
DEPDC1B	55789	broad.mit.edu	37	chr5	59894911	59894911	+	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	tatccttttacctgcttcagTttcttctttttctctttgtt	3	25	3	10	0	4	0	1	0	3	0	6	0	5	0	2	0	2	3	2	0	2	10			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:59894911T>C	ENST00000265036.5	-	10	1486	c.1419A>G	c.(1417-1419)aaA>aaG	p.K473K	DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	473	Poly-Lys.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CCTGCTTCAGTTTCTTCTTTT	0.343																																						.											0													73	70	71					5																	59894911		2203	4300	6503	SO:0001819	synonymous_variant	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1419A>G	5.37:g.59894911T>C			A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	37	CCDS3977.1																																																																																				0.343	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		C	59894911	T	C	59894911	2	2	19	1	0	0	0	0	0	0	0	1	4440	1722	60	2		2	DEPDC1B	5	59894911	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10		59894911	121020349	31	1388											
NR2F1	7025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	92923831	92923831	+	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	aacatctgcgagctggccgcGcgcctgctcttcagcgccgt	5	8	12	16	6	3	0	1	0	2	0	3	1	3	0	3	1	5	2	3	1	1	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:92923831G>A	ENST00000327111.3	+	2	2359	c.672G>A	c.(670-672)gcG>gcA	p.A224A	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	224					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|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)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGCTGGCCGCGCGCCTGCTCT	0.657																																						.											0													74	73	74					5																	92923831		2203	4300	6503	SO:0001819	synonymous_variant	7025			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.672G>A	5.37:g.92923831G>A				Silent	SNP	ENST00000327111.3	37	CCDS4068.1																																																																																				0.657	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		A	92923831	G	A	92923831	2	1	19	1	0	0	0	0	0	0	0	1	10627	1074	38	1		1	NR2F1	5	92923831	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	33028920	92923831	87991429	32	1389											
APC	324	broad.mit.edu	37	chr5	112155000	112155001	+	Frame_Shift_Ins	INS	-	-	G																															gaaacctgttgggagtggcaINSggaagctcatgaaccaggca																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:112155000_112155001insG	ENST00000457016.1	+	10	1651_1652	c.1271_1272insG	c.(1270-1275)caggaafs	p.E425fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.E425fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.E425fs			P25054	APC_HUMAN	adenomatous polyposis coli	425	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			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)		TGGGAGTGGCAGGAAGCTCATG	0.436		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	0																																										SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	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.1273dupG	5.37:g.112155002_112155002dupG	ENSP00000413133:p.Glu425fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.436	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112155001	-	G	112155000	7	5	19	1	0	1	1	0	0	0	0	0	763	188	7	0	1305	0	APC	5	112155000	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	19231169	112155000	68760260	33	1390											
PCDHB4	56131	mdanderson.org	37	chr5	140503002	140503002	+	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	cacatcggcagtgtcagcgcCacagacagagactcgggcac	11	4	12	14	3	1	2	1	0	0	2	3	3	1	2	1	2	1	2	1	2	0	0			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:140503002C>A	ENST00000194152.1	+	1	1422	c.1422C>A	c.(1420-1422)gcC>gcA	p.A474A	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	474	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)	p.A474A(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)			GTGTCAGCGCCACAGACAGAG	0.662																																						.											1	Substitution - coding silent(1)	skin(1)											48	52	51					5																	140503002		2201	4295	6496	SO:0001819	synonymous_variant	56131			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.1422C>A	5.37:g.140503002C>A			Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																				0.662	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140503002	C	A	140503002	2	1	19	1	0	0	0	0	0	0	0	1	11544	581	21	5		5	PCDHB4	5	140503002	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	28348002	140503002	40412258	34	1391											
PCDH1	5097	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	141236865	141236865	+	Missense_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	gctgccatcaggggtggtgcGctcatagtgatcctcaggca	7	9	14	11	1	3	1	3	1	0	0	4	1	4	1	2	4	2	3	2	4	1	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:141236865G>A	ENST00000287008.3	-	4	3418	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	PCDH1_ENST00000503492.1_Missense_Mutation_p.R359C	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGGGTGGTGCGCTCATAGTGA	0.617																																					Ovarian(132;1609 1739 4190 14731 45037)	.											0													72	66	68					5																	141236865		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3271C>T	5.37:g.141236865G>A	ENSP00000287008:p.Arg1091Cys		Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346335	0.61073	.	.	ENSG00000156453	ENST00000503492;ENST00000287008	T;T	0.70045	-0.45;0.46	5.23	5.23	0.72850	.	0.000000	0.45361	U	0.000367	T	0.81113	0.4755	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83291	-0.0033	10	0.87932	D	0	.	16.2921	0.82757	0.0:0.0:1.0:0.0	.	1091	Q08174-2	.	C	359;1091	ENSP00000424667:R359C;ENSP00000287008:R1091C	ENSP00000287008:R1091C	R	-	1	0	PCDH1	141217049	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.912000	0.63335	2.433000	0.82419	0.455000	0.32223	CGC		0.617	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		A	141236865	G	A	141236865	3	1	19	1	0	0	0	0	1	0	0	0	11506	1087	38	1	450	1	PCDH1	5	141236865	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	733863	141236865	39678395	35	1392											
RNF145	153830	mdanderson.org	37	chr5	158595995	158595995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcaagaatgcccgatgaAcaacctgcagttctatcagc	13	8	9	11	1	2	3	1	2	1	1	2	4	2	3	2	0	6	3	2	0	5	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:158595995A>G	ENST00000424310.2	-	8	1366	c.1007T>C	c.(1006-1008)gTt>gCt	p.V336A	RNF145_ENST00000274542.2_Missense_Mutation_p.V364A|RNF145_ENST00000519865.1_Missense_Mutation_p.V336A|RNF145_ENST00000518802.1_Missense_Mutation_p.V366A|RNF145_ENST00000521606.2_Missense_Mutation_p.V353A|RNF145_ENST00000520638.1_Missense_Mutation_p.V350A	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	336						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCCGATGAACAACCTGCAG	0.413																																						.											0													128	130	129					5																	158595995		2203	4300	6503	SO:0001583	missense	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1007T>C	5.37:g.158595995A>G	ENSP00000409064:p.Val336Ala		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545766	0.45280	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77098	-1.07;-1.06;-1.06;-1.07;-1.06;-1.07;-1.07	5.08	5.08	0.68730	.	0.051325	0.85682	D	0.000000	T	0.64800	0.2631	N	0.22421	0.69	0.52501	D	0.999957	B;B;B;P;B	0.35124	0.425;0.425;0.425;0.485;0.372	B;B;B;B;B	0.34652	0.131;0.131;0.182;0.187;0.114	T	0.62642	-0.6811	10	0.15499	T	0.54	-21.9966	15.1444	0.72637	1.0:0.0:0.0:0.0	.	353;350;366;336;364	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	A	364;336;336;352;353;366;336;350	ENSP00000274542:V364A;ENSP00000430397:V336A;ENSP00000409064:V336A;ENSP00000430753:V352A;ENSP00000445115:V353A;ENSP00000430955:V366A;ENSP00000429071:V350A	ENSP00000274542:V364A	V	-	2	0	RNF145	158528573	1.000000	0.71417	0.888000	0.34837	0.907000	0.53573	9.188000	0.94921	2.035000	0.60131	0.477000	0.44152	GTT		0.413	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		G	158595995	A	G	158595995	3	3	19	1	0	0	0	0	1	0	0	0	13447	43	2	2	1000	2	RNF145	5	158595995	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	17359130	158595995	22319265	36	1393											
GABRP	2568	broad.mit.edu	37	chr5	170239019	170239019	+	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	atcatcaacagctccatctcCagctttaaacggaagatcag	14	9	6	12	1	4	1	3	0	1	1	6	2	5	2	2	1	4	2	2	1	4	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:170239019C>T	ENST00000518525.1	+	11	1544	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	GABRP_ENST00000265294.4_Silent_p.S360S|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	360					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)	GCTCCATCTCCAGCTTTAAAC	0.403																																						.											0													123	114	117					5																	170239019		2203	4300	6503	SO:0001819	synonymous_variant	2568			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.1080C>T	5.37:g.170239019C>T			A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	CCDS4375.1																																																																																				0.403	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		T	170239019	C	T	170239019	2	4	19	1	0	0	0	0	0	0	0	1	6174	581	21	4		4	GABRP	5	170239019	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	11643024	170239019	10676241	37	1394											
OR5V1	81696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	29323612	29323612	+	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	gcagattgcaatgtaacgatCatatgccattgctgccagta	12	11	9	9	1	1	1	1	0	0	1	1	2	1	1	2	0	5	5	2	0	4	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:29323612C>A	ENST00000377154.1	-	4	660	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	OR5V1_ENST00000543825.1_Missense_Mutation_p.D121Y			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D121N(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGTAACGATCATATGCCATT	0.403																																					Ovarian(32;43 883 21137 32120 42650)	.											1	Substitution - Missense(1)	skin(1)											68	69	69					6																	29323612		2203	4299	6502	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.361G>T	6.37:g.29323612C>A	ENSP00000366359:p.Asp121Tyr		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113947	0.77210	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.18338	2.22;2.22	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	N	0.004469	T	0.54679	0.1873	H	0.98682	4.3	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	T	0.75079	-0.3444	10	0.87932	D	0	-52.0337	17.0395	0.86484	0.0:1.0:0.0:0.0	.	121	Q9UGF6	OR5V1_HUMAN	Y	121	ENSP00000366359:D121Y;ENSP00000443309:D121Y	ENSP00000366356:D121Y	D	-	1	0	OR5V1	29431591	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	6.782000	0.75073	2.422000	0.82143	0.543000	0.68304	GAT		0.403	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			A	29323612	C	A	29323612	3	1	19	1	0	0	0	0	1	0	0	0	11184	826	29	5	607	5	OR5V1	6	29323612	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		29323612	141791455	38	1395											
HLA-G	3135	mdanderson.org	37	chr6	29797430	29797430	+	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	cagagatacacgtgccatgtGcagcatgaggggctgccgga	10	6	15	10	2	0	2	0	1	0	1	0	4	0	3	2	3	5	3	2	3	1	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:29797430G>T	ENST00000360323.6	+	4	879	c.855G>T	c.(853-855)gtG>gtT	p.V285V	HLA-G_ENST00000428701.1_Silent_p.V285V|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.V290V|HLA-G_ENST00000376818.3_Silent_p.V193V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	285	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						CGTGCCATGTGCAGCATGAGG	0.592																																						.											0													58	58	58					6																	29797430		2203	4300	6503	SO:0001819	synonymous_variant	3135				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.855G>T	6.37:g.29797430G>T				Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																				0.592	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		T	29797430	G	T	29797430	2	4	19	1	0	0	0	0	0	0	0	1	7212	1306	46	5		5	HLA-G	6	29797430	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	473818	29797430	141317637	39	1396											
C6orf27	80737	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	31734079	31734079	+	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	cgaaagtcctaaggtcaagaTcctgagggcccgagaagctg	12	6	13	10	2	1	3	1	1	0	2	3	5	3	3	3	2	1	1	3	2	4	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:31734079T>A	ENST00000375688.4	-	15	2467	c.2267A>T	c.(2266-2268)gAt>gTt	p.D756V	VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000375686.3_Missense_Mutation_p.D756V			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	756						extracellular region (GO:0005576)											AAGGTCAAGATCCTGAGGGCC	0.607																																						.											0													39	34	36					6																	31734079		1511	2709	4220	SO:0001583	missense	80737				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.2267A>T	6.37:g.31734079T>A	ENSP00000364840:p.Asp756Val		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747583	0.69533	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.16324	2.56;2.35	4.57	4.57	0.56435	.	0.389990	0.23887	N	0.043590	T	0.16385	0.0394	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	P	0.62184	0.899	T	0.01283	-1.1396	10	0.62326	D	0.03	-8.1282	10.4849	0.44715	0.0:0.0:0.0:1.0	.	756	Q9Y334	G7C_HUMAN	V	756	ENSP00000364840:D756V;ENSP00000364838:D756V	ENSP00000364838:D756V	D	-	2	0	C6orf27	31842058	1.000000	0.71417	0.977000	0.42913	0.723000	0.41478	3.988000	0.56951	2.044000	0.60594	0.460000	0.39030	GAT		0.607	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		A	31734079	T	A	31734079	3	1	19	1	0	0	0	0	1	0	0	0	2362	1435	50	5	419	5	C6orf27	6	31734079	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	1936649	31734079	139380988	40	1397											
KPNA5	3841	broad.mit.edu;mdanderson.org	37	chr6	117013533	117013533	+	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	cagctaacagcaacacagaaAtttagaaagctgctttctaa	17	9	6	9	0	1	2	0	0	1	2	1	2	1	2	0	0	6	4	0	0	6	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:117013533A>G	ENST00000368564.1	+	4	466	c.318A>G	c.(316-318)aaA>aaG	p.K106K	KPNA5_ENST00000356348.1_Silent_p.K106K			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	103					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		CAACACAGAAATTTAGAAAGC	0.274																																						.											0													70	74	73					6																	117013533		2203	4286	6489	SO:0001819	synonymous_variant	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.318A>G	6.37:g.117013533A>G			B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	CCDS5111.1																																																																																				0.274	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		G	117013533	A	G	117013533	2	3	19	1	0	0	0	0	0	0	0	1	8433	98	4	4		4	KPNA5	6	117013533	Silent	SNP	A	TCGA-KL-8341-01A-11D-2310-10	85279454	117013533	54101534	41	1398											
SYNE1	23345	broad.mit.edu;bcgsc.ca	37	chr6	152642498	152642498	+	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	cattttttcaatgttctgtcGgtgatttgtggcttctgtta	5	21	9	6	1	3	1	1	1	2	0	4	1	3	1	0	2	0	3	0	2	2	7			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:152642498G>A	ENST00000367255.5	-	84	16712	c.16111C>T	c.(16111-16113)Cga>Tga	p.R5371*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R5300*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R5044*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R5371*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R5300*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5371					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)		ATGTTCTGTCGGTGATTTGTG	0.388										HNSCC(10;0.0054)																												.											0													100	94	96					6																	152642498		2203	4300	6503	SO:0001587	stop_gained	23345			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.16111C>T	6.37:g.152642498G>A	ENSP00000356224:p.Arg5371*		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	58	31.532104	0.99979	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.25	2.3	0.28687	.	0.425694	0.19668	N	0.108839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8923	0.63747	0.0:0.0:0.6078:0.3922	.	.	.	.	X	5371;5300;5371;5300;5044	.	ENSP00000265368:R5371X	R	-	1	2	SYNE1	152684191	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	2.424000	0.44714	0.149000	0.19098	0.563000	0.77884	CGA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152642498	G	A	152642498	4	1	19	1	0	0	0	0	0	1	0	0	15442	1124	39	1	10607	1	SYNE1	6	152642498	Nonsense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	35628965	152642498	18472569	42	1399											
SLC29A4	222962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	5334542	5334542	+	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	gatgctgcccaagcggtacaCgcagggggtgatgaccgggg	8	5	18	10	3	0	2	0	2	0	0	0	3	0	2	2	5	4	3	2	5	2	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:5334542C>T	ENST00000396872.3	+	6	757	c.596C>T	c.(595-597)aCg>aTg	p.T199M	SLC29A4_ENST00000297195.4_Missense_Mutation_p.T199M|SLC29A4_ENST00000406453.3_Missense_Mutation_p.T185M			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	199					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	AAGCGGTACACGCAGGGGGTG	0.617																																						.											0													92	105	101					7																	5334542		2203	4300	6503	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.596C>T	7.37:g.5334542C>T	ENSP00000380081:p.Thr199Met		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.326993	0.81690	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.81163	-1.46;-1.46;-0.12	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	L	0.42487	1.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.85837	0.1395	10	0.49607	T	0.09	-1.3588	14.4407	0.67314	0.0:1.0:0.0:0.0	.	185;199	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	M	199;199;185	ENSP00000380081:T199M;ENSP00000297195:T199M;ENSP00000385845:T185M	ENSP00000297195:T199M	T	+	2	0	SLC29A4	5301068	1.000000	0.71417	0.971000	0.41717	0.739000	0.42172	5.379000	0.66196	1.920000	0.55613	0.561000	0.74099	ACG		0.617	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		T	5334542	C	T	5334542	3	4	19	1	0	0	0	0	1	0	0	0	14537	536	19	1	614	1	SLC29A4	7	5334542	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		5334542	153804121	43	1400											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5428642	5428642	+	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	ggctgcagcgccgcattcttGgtcttggactcagccaggaa	7	9	13	12	2	3	0	1	0	2	0	3	2	3	2	2	4	3	3	2	4	1	3	rs144662045	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:5428642G>A	ENST00000430969.1	-	5	1161	c.813C>T	c.(811-813)acC>acT	p.T271T	TNRC18_ENST00000399537.4_Silent_p.T271T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	271							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)		CCGCATTCTTGGTCTTGGACT	0.756													G|||	148	0.0295527	0	0.0014	5008	,	,		4446	0.1369		0.003	False		,,,				2504	0.0061					.											0								G		1,3115		0,1,1557	3	3	3		813	0.2	0	7	dbSNP_134	3	6,7046		0,6,3520	no	coding-synonymous	TNRC18	NM_001080495.2		0,7,5077	AA,AG,GG		0.0851,0.0321,0.0688		271/2969	5428642	7,10161	1558	3526	5084	SO:0001819	synonymous_variant	84629			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.813C>T	7.37:g.5428642G>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5428642	G	A	5428642	2	1	19	1	0	0	0	0	0	0	0	1	16336	1335	47	4		4	TNRC18	7	5428642	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	94100	5428642	153710021	44	1401											
POM121	9883	mdanderson.org	37	chr7	72412591	72412591	+	Missense_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	caacccttcaggcagagacgGctaccaaaccccaagccaca	14	3	7	17	1	1	1	1	0	0	1	1	2	1	1	5	2	4	2	5	2	4	2	rs201184041	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:72412591G>A	ENST00000434423.2	+	11	2059	c.2059G>A	c.(2059-2061)Gct>Act	p.A687T	POM121_ENST00000446813.1_Missense_Mutation_p.A422T|POM121_ENST00000257622.4_Missense_Mutation_p.A422T|POM121_ENST00000395270.1_Missense_Mutation_p.A422T|POM121_ENST00000358357.3_Missense_Mutation_p.A422T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	687	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCAGAGACGGCTACCAAACC	0.617																																						.											0													64	73	70					7																	72412591		2197	4295	6492	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2059G>A	7.37:g.72412591G>A	ENSP00000405562:p.Ala687Thr		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643085	0.29246	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05447	3.44;3.45;3.44;3.45;3.68	2.33	-2.14	0.07123	.	1.146690	0.06730	N	0.776488	T	0.04182	0.0116	N	0.25647	0.755	0.09310	N	1	P;B	0.34587	0.458;0.452	B;B	0.35039	0.194;0.164	T	0.41270	-0.9518	10	0.25751	T	0.34	.	3.0328	0.06112	0.0:0.2841:0.2415:0.4744	.	422;687	A8MXF9;Q96HA1	.;P121A_HUMAN	T	422;422;422;422;687	ENSP00000393020:A422T;ENSP00000257622:A422T;ENSP00000378687:A422T;ENSP00000351124:A422T;ENSP00000405562:A687T	ENSP00000257622:A422T	A	+	1	0	POM121	72050527	0.000000	0.05858	0.000000	0.03702	0.323000	0.28346	-0.717000	0.04986	-0.647000	0.05444	0.173000	0.16961	GCT		0.617	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			A	72412591	G	A	72412591	3	1	19	1	0	0	0	0	1	0	0	0	12239	1203	42	3	1302	3	POM121	7	72412591	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	66983949	72412591	86726072	45	1402											
MUC17	140453	hgsc.bcm.edu;mdanderson.org	37	chr7	100681510	100681510	+	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	gaaggtaccagcataccaacTtcaactcttagtgaaggaac	15	8	8	10	0	2	1	1	1	1	0	2	3	2	2	2	2	6	2	2	2	8	4	rs116767656		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:100681510T>C	ENST00000306151.4	+	3	6877	c.6813T>C	c.(6811-6813)acT>acC	p.T2271T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2271	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)					GCATACCAACTTCAACTCTTA	0.488																																						.											0													262	265	264					7																	100681510		2203	4300	6503	SO:0001819	synonymous_variant	140453			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.6813T>C	7.37:g.100681510T>C			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681510	T	C	100681510	2	2	19	1	0	0	0	0	0	0	0	1	9974	1596	56	2		2	MUC17	7	100681510	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	28268919	100681510	58457153	46	1403											
MUC17	140453	mdanderson.org	37	chr7	100681951	100681951	+	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	tctgaggctagcacccattcCacaactcctgttgacaccag	10	9	7	15	0	1	2	0	2	1	0	3	2	3	2	4	1	2	3	4	1	2	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:100681951C>A	ENST00000306151.4	+	3	7318	c.7254C>A	c.(7252-7254)tcC>tcA	p.S2418S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2418	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)					GCACCCATTCCACAACTCCTG	0.512																																						.											0													380	365	370					7																	100681951		2203	4300	6503	SO:0001819	synonymous_variant	140453			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.7254C>A	7.37:g.100681951C>A			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100681951	C	A	100681951	2	1	19	1	0	0	0	0	0	0	0	1	9974	581	21	5		5	MUC17	7	100681951	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	441	100681951	58456712	47	1404											
TAS2R4	50832	mdanderson.org	37	chr7	141478800	141478800	+	Missense_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	taacacatcatttaatatcaGtgagggcatcttgtctttag	12	15	7	7	0	4	1	2	1	2	0	4	1	4	1	0	1	1	1	0	1	4	7	rs2234002	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:141478800G>A	ENST00000247881.2	+	1	559	c.512G>A	c.(511-513)aGt>aAt	p.S171N	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	171			S -> N (in dbSNP:rs2234002).		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TTTAATATCAGTGAGGGCATC	0.423													g|||	2461	0.491414	0.1929	0.5663	5008	,	,		22114	0.745		0.4722	False		,,,				2504	0.6002					.											0								A	ASN/SER	1106,3300	398.5+/-330.9	147,812,1244	263	256	259		512	-8.9	0	7	dbSNP_98	259	4271,4329	574.9+/-390.1	1053,2165,1082	yes	missense	TAS2R4	NM_016944.1	46	1200,2977,2326	AA,AG,GG		49.6628,25.1021,41.3425	benign	171/300	141478800	5377,7629	2203	4300	6503	SO:0001583	missense	50832			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.512G>A	7.37:g.141478800G>A	ENSP00000247881:p.Ser171Asn		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	1081	0.49496336996337	103	0.20934959349593496	198	0.5469613259668509	427	0.7465034965034965	353	0.4656992084432718	g	0.003	-2.486927	0.00161	0.251021	0.496628	ENSG00000127364	ENST00000247881	T	0.00768	5.72	5.06	-8.91	0.00778	.	1.458410	0.03642	N	0.239661	T	0.00012	0.0000	N	0.10760	0.04	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.43294	-0.9400	9	0.02654	T	1	.	10.909	0.47097	0.2401:0.2116:0.5482:0.0	rs2234002;rs3735277;rs17523587;rs52816893;rs60480904;rs2234002	171	Q9NYW5	TA2R4_HUMAN	N	171	ENSP00000247881:S171N	ENSP00000247881:S171N	S	+	2	0	TAS2R4	141125269	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.744000	0.04839	-1.732000	0.01359	-0.508000	0.04489	AGT		0.423	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			A	141478800	G	A	141478800	3	1	19	1	0	0	0	0	1	0	0	0	15574	1029	36	4	514	4	TAS2R4	7	141478800	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	40796849	141478800	17659863	48	1405											
TAS2R38	5726	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	141672852	141672852	+	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	gggagacagtcagcatcccaGaagaaaccagaaacaatagg	18	3	11	9	0	1	4	1	0	0	4	2	5	2	4	2	2	3	1	2	2	5	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:141672852G>A	ENST00000547270.1	-	1	721	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	213					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)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGCATCCCAGAAGAAACCAG	0.468																																						.											0													102	109	106					7																	141672852		2203	4300	6503	SO:0001583	missense	5726			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.638C>T	7.37:g.141672852G>A	ENSP00000448219:p.Ser213Phe		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	0.409	-0.914048	0.02415	.	.	ENSG00000257138	ENST00000547270	T	0.37584	1.19	5.0	2.01	0.26516	.	0.248085	0.33650	N	0.004690	T	0.38931	0.1059	L	0.41961	1.31	0.09310	N	1	D	0.69078	0.997	D	0.70227	0.968	T	0.31475	-0.9942	10	0.02654	T	1	.	7.1803	0.25768	0.0918:0.3262:0.582:0.0	.	213	P59533	T2R38_HUMAN	F	213	ENSP00000448219:S213F	ENSP00000331291:S213F	S	-	2	0	TAS2R38	141319321	0.008000	0.16893	0.098000	0.21074	0.345000	0.29048	0.699000	0.25586	0.672000	0.31204	0.655000	0.94253	TCT		0.468	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		A	141672852	G	A	141672852	3	1	19	1	0	0	0	0	1	0	0	0	15572	942	33	4	367	4	TAS2R38	7	141672852	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	194052	141672852	17465811	49	1406											
PRSS1	5644	mdanderson.org	37	chr7	142460752	142460752	+	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	gccctgtggtctgcaatggaCagctccaaggagttgtctcc	7	10	12	12	0	2	0	0	0	2	0	4	2	3	2	3	3	2	3	3	3	2	1	rs140793689		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:142460752C>G	ENST00000311737.7	+	5	631	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	PRSS1_ENST00000486171.1_Missense_Mutation_p.Q223E	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTGCAATGGACAGCTCCAAGG	0.498																																						.											0													81	82	82					7																	142460752		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.625C>G	7.37:g.142460752C>G	ENSP00000308720:p.Gln209Glu		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.193364	0.00026	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92752	-3.1;-3.1	3.18	-6.37	0.01963	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.378699	0.32671	N	0.005798	T	0.78142	0.4237	N	0.11818	0.18	0.23758	N	0.996928	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.62539	-0.6833	10	0.02654	T	1	.	15.6905	0.77446	0.0827:0.7314:0.186:0.0	.	223;209	E7EQ64;P07477	.;TRY1_HUMAN	E	223;209;199	ENSP00000417854:Q223E;ENSP00000308720:Q209E	ENSP00000308720:Q209E	Q	+	1	0	PRSS1	142140326	0.000000	0.05858	0.024000	0.17045	0.003000	0.03518	-1.756000	0.01813	-1.839000	0.01186	0.195000	0.17529	CAG		0.498	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142460752	C	G	142460752	3	3	19	1	0	0	0	0	1	0	0	0	12614	479	17	5	643	5	PRSS1	7	142460752	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	787900	142460752	16677911	50	1407											
ADAM28	10863	broad.mit.edu;ucsc.edu	37	chr8	24170913	24170913	+	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	tttttcaggggctacttcagTcagggggatcaaagatactt	10	13	11	7	0	4	1	4	0	0	1	4	2	4	2	0	4	2	1	0	4	3	6			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:24170913T>C	ENST00000265769.4	+	6	506	c.396T>C	c.(394-396)agT>agC	p.S132S	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.S132S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_Intron	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	132					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)		GCTACTTCAGTCAGGGGGATC	0.383																																					NSCLC(193;488 2149 22258 34798 40734)	.											0													73	70	71					8																	24170913		2203	4300	6503	SO:0001819	synonymous_variant	10863			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.396T>C	8.37:g.24170913T>C			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1																																																																																				0.383	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		C	24170913	T	C	24170913	2	2	19	1	0	0	0	0	0	0	0	1	246	1664	58	2		2	ADAM28	8	24170913	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10		24170913	122193109	51	1408											
PABPC1	26986	broad.mit.edu	37	chr8	101733701	101733702	+	Frame_Shift_Ins	INS	-	-	A																															tgcagacccggatggagaggINSatgggcccggccgggctgaa																								rs149111517		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733701_101733702insA	ENST00000318607.5	-	1	1238_1239	c.110_111insT	c.(109-111)atcfs	p.I37fs	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.I37fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	37	RRM 1. {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)			GGATGGAGAGGATGGGCCCGGC	0.683																																						.											0																																										SO:0001589	frameshift_variant	26986			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.111dupT	8.37:g.101733702_101733702dupA	ENSP00000313007:p.Ile37fs		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	CCDS6289.1																																																																																				0.683	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101733702	-	A	101733701	7	5	19	1	0	1	1	0	0	0	0	0	11363	1164	41	0	1855	0	PABPC1	8	101733701	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	77562788	101733701	44630321	52	1409	36	2	1	13		3	2	23	N	T_-	8.740856e-05
PABPC1	26986	broad.mit.edu	37	chr8	101733702	101733703	+	Frame_Shift_Ins	INS	-	-	G																															gcagacccggatggagaggaINStgggcccggccgggctgaac																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733702_101733703insG	ENST00000318607.5	-	1	1237_1238	c.109_110insC	c.(109-111)atcfs	p.I37fs	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.I37fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	37	RRM 1. {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)			GATGGAGAGGATGGGCCCGGCC	0.683																																						.											0																																										SO:0001589	frameshift_variant	26986			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.109_110insC	8.37:g.101733702_101733703insG	ENSP00000313007:p.Ile37fs		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	CCDS6289.1																																																																																				0.683	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		G	101733703	-	G	101733702	7	5	19	1	0	1	1	0	0	0	0	0	11363	333	12	0	1856	0	PABPC1	8	101733702	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	1	101733702	44630320	53	1410	36	2	1	13		3	2	23	N	T_-	8.740856e-05
PABPC1	26986	broad.mit.edu	37	chr8	101733723	101733723	+	Frame_Shift_Del	DEL	T	T	-																															tgggcccggccgggctgaacTtctcgtagagcatcgcctcg																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733723delT	ENST00000318607.5	-	1	1217	c.89delA	c.(88-90)aagfs	p.K30fs	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K30fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	30	RRM 1. {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)			CGGGCTGAACTTCTCGTAGAG	0.667																																						.											0													27	31	30					8																	101733723		2203	4299	6502	SO:0001589	frameshift_variant	26986			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.89delA	8.37:g.101733723delT	ENSP00000313007:p.Lys30fs		Q15097|Q93004	Frame_Shift_Del	DEL	ENST00000318607.5	37	CCDS6289.1																																																																																				0.667	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		-	101733723	T	-	101733723	7	5	19	1	0	1	0	1	0	0	0	0	11363	1609	56	0	1877	0	PABPC1	8	101733723	Frame_Shift_Del	DEL	T	TCGA-KL-8341-01A-11D-2310-10	21	101733723	44630299	54	1411			1	13		3	2	23	N	T_-	8.740856e-05
UBR5	51366	mdanderson.org;bcgsc.ca	37	chr8	103277497	103277497	+	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	actagagccatggcgctttcGgttttcctgctaacagagaa	10	11	10	10	2	0	2	0	0	0	2	2	3	1	2	2	2	3	3	2	2	3	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:103277497G>A	ENST00000520539.1	-	53	8038	c.7432C>T	c.(7432-7434)Cga>Tga	p.R2478*	UBR5_ENST00000518205.1_Nonsense_Mutation_p.R206*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.R2471*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.R2477*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2478	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)			TGGCGCTTTCGGTTTTCCTGC	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	.											0													73	73	73					8																	103277497		2203	4300	6503	SO:0001587	stop_gained	51366			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.7432C>T	8.37:g.103277497G>A	ENSP00000429084:p.Arg2478*		B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	51	18.249704	0.99902	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	.	.	.	5.27	3.33	0.38152	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3267	0.60463	0.0:0.0:0.6066:0.3934	.	.	.	.	X	2478;2477;206;2471	.	ENSP00000220959:R2477X	R	-	1	2	UBR5	103346673	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.583000	0.46094	1.179000	0.42884	0.655000	0.94253	CGA		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		A	103277497	G	A	103277497	4	1	19	1	0	0	0	0	0	1	0	0	16902	1124	39	1	995	1	UBR5	8	103277497	Nonsense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	1543774	103277497	43086525	55	1412											
KLF10	7071	mdanderson.org	37	chr8	103663512	103663512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgctgctgaaggggaaaAcccaggagcaggggcaatgg	11	7	16	7	0	0	1	0	1	0	0	0	3	0	3	1	6	4	4	1	6	4	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:103663512A>G	ENST00000285407.6	-	3	1348	c.1048T>C	c.(1048-1050)Ttt>Ctt	p.F350L	KLF10_ENST00000395884.3_Missense_Mutation_p.F339L	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	350					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|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)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAAGGGGAAAACCCAGGAGCA	0.517																																					Esophageal Squamous(16;495 519 2144 16528 44005)	.											0													82	94	90					8																	103663512		2203	4300	6503	SO:0001583	missense	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1048T>C	8.37:g.103663512A>G	ENSP00000285407:p.Phe350Leu		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950337	0.34377	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.13089	2.62;2.68	5.5	4.35	0.52113	.	0.151335	0.47852	N	0.000211	T	0.12732	0.0309	M	0.64997	1.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.33033	-0.9884	10	0.15499	T	0.54	.	6.6187	0.22790	0.7913:0.0:0.0722:0.1366	.	350;339	Q13118;O75411	KLF10_HUMAN;.	L	350;339	ENSP00000285407:F350L;ENSP00000379222:F339L	ENSP00000285407:F350L	F	-	1	0	KLF10	103732688	0.947000	0.32204	0.179000	0.23059	0.987000	0.75469	3.510000	0.53393	1.033000	0.39918	0.533000	0.62120	TTT		0.517	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			G	103663512	A	G	103663512	3	3	19	1	0	0	0	0	1	0	0	0	8338	43	2	2	402	2	KLF10	8	103663512	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	386015	103663512	42700510	56	1413											
RIMS2	9699	broad.mit.edu	37	chr8	104513292	104513292	+	Splice_Site	DEL	T	T	-																															aggagcagtccgtgctcaagTaaggacctggctccatattc																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:104513292delT	ENST00000406091.3	+	1	176		c.e1+2		RP11-1C8.4_ENST00000517376.1_RNA|RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						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)			CGTGCTCAAGTAAGGACCTGG	0.652										HNSCC(12;0.0054)																												.											0													29	34	33					8																	104513292		1977	4133	6110	SO:0001630	splice_region_variant	9699			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		ENST00000406091.3:c.176+2T>-	8.37:g.104513292delT			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	DEL	ENST00000406091.3	37	CCDS55269.1																																																																																				0.652	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117	Intron	-	104513292	T	-	104513292	8	5	19	1	0	1	0	1	0	0	1	0	13368	1652	57	0	180	0	RIMS2	8	104513292	Splice_Site	DEL	T	TCGA-KL-8341-01A-11D-2310-10	849780	104513292	41850730	57	1414											
LRP12	29967	ucsc.edu;bcgsc.ca	37	chr8	105510296	105510296	+	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	acaagcacaatttggttcctCagatttccctgtgaagatgt	11	13	8	9	0	1	3	1	1	0	2	3	3	3	3	2	1	1	2	2	1	3	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:105510296C>T	ENST00000276654.5	-	5	592	c.484G>A	c.(484-486)Gag>Aag	p.E162K	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.E143K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	162					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)			TTTGGTTCCTCAGATTTCCCT	0.333																																						.											0													72	69	70					8																	105510296		2203	4300	6503	SO:0001583	missense	29967			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.484G>A	8.37:g.105510296C>T	ENSP00000276654:p.Glu162Lys		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611264	0.28712	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.84442	-1.85;-1.78	5.5	5.5	0.81552	.	0.101931	0.64402	D	0.000002	T	0.78679	0.4321	L	0.40543	1.245	0.80722	D	1	B;B	0.20164	0.042;0.025	B;B	0.26310	0.068;0.031	T	0.71210	-0.4660	10	0.09590	T	0.72	-16.7257	13.6751	0.62449	0.0:0.9266:0.0:0.0734	.	143;162	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	143;162	ENSP00000399148:E143K;ENSP00000276654:E162K	ENSP00000276654:E162K	E	-	1	0	LRP12	105579472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.681000	0.61663	2.584000	0.87258	0.563000	0.77884	GAG		0.333	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		T	105510296	C	T	105510296	3	4	19	1	0	0	0	0	1	0	0	0	8954	835	29	4	2107	4	LRP12	8	105510296	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	997004	105510296	40853726	58	1415											
HAS2	3037	broad.mit.edu	37	chr8	122626903	122626903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaagtgatgtttgtgaaAccacattgcattgtacagcc	12	11	8	10	0	0	2	0	2	0	0	0	2	0	2	3	0	4	3	3	0	3	4			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:122626903A>G	ENST00000303924.4	-	4	1642	c.1105T>C	c.(1105-1107)Ttt>Ctt	p.F369L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	369					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGTTTGTGAAACCACATTGCA	0.448																																						.											0													174	149	157					8																	122626903		2203	4300	6503	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1105T>C	8.37:g.122626903A>G	ENSP00000306991:p.Phe369Leu		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214257	0.79352	.	.	ENSG00000170961	ENST00000303924	T	0.58060	0.36	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	L	0.28014	0.82	0.80722	D	1	D	0.56287	0.975	P	0.58660	0.843	T	0.45205	-0.9277	10	0.09084	T	0.74	-22.3438	16.5427	0.84406	1.0:0.0:0.0:0.0	.	369	Q92819	HAS2_HUMAN	L	369	ENSP00000306991:F369L	ENSP00000306991:F369L	F	-	1	0	HAS2	122696084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.318000	0.96334	2.309000	0.77851	0.448000	0.29417	TTT		0.448	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		G	122626903	A	G	122626903	3	3	19	1	0	0	0	0	1	0	0	0	6962	43	2	2	557	2	HAS2	8	122626903	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	17116607	122626903	23737119	59	1416											
ZC3H3	23144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	144550602	144550602	+	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	tggatgtaggggcagcgctcGccacggttgcacctgccgaa	7	7	15	12	4	0	0	0	0	0	0	1	2	0	1	3	4	3	5	3	4	2	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:144550602G>A	ENST00000262577.5	-	7	2086	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	685					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)			GGCAGCGCTCGCCACGGTTGC	0.672																																						.											0													32	34	33					8																	144550602		2193	4298	6491	SO:0001819	synonymous_variant	23144			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.2055C>T	8.37:g.144550602G>A			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	CCDS6402.1																																																																																				0.672	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		A	144550602	G	A	144550602	2	1	19	1	0	0	0	0	0	0	0	1	17566	1074	38	1		1	ZC3H3	8	144550602	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	21923699	144550602	1813420	60	1417											
MCART1	92014	mdanderson.org	37	chr9	37888331	37888331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcgaaatccatcccttcTcaactgaagtattgcatccc	11	13	4	13	1	1	1	1	1	1	0	6	2	4	1	3	0	2	2	3	0	4	4			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr9:37888331T>C	ENST00000377716.2	-	3	960	c.217A>G	c.(217-219)Aga>Gga	p.R73G	SLC25A51_ENST00000380590.3_Missense_Mutation_p.R73G|SLC25A51_ENST00000242275.6_Missense_Mutation_p.R73G|SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	73					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CCATCCCTTCTCAACTGAAGT	0.438																																						.											0													113	101	105					9																	37888331		2203	4300	6503	SO:0001583	missense	92014			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.217A>G	9.37:g.37888331T>C	ENSP00000366945:p.Arg73Gly			Missense_Mutation	SNP	ENST00000377716.2	37	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.910659	0.52439	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.80480	-1.38;-1.38;-1.38	5.18	-0.605	0.11623	Mitochondrial carrier domain (2);	0.207650	0.39687	N	0.001283	D	0.83018	0.5163	M	0.82132	2.575	0.36010	D	0.838007	B	0.20780	0.048	B	0.38020	0.263	D	0.84228	0.0465	10	0.62326	D	0.03	.	13.6954	0.62575	0.0:0.0:0.6378:0.3622	.	73	Q9H1U9	MCAR1_HUMAN	G	73	ENSP00000369964:R73G;ENSP00000366945:R73G;ENSP00000242275:R73G	ENSP00000242275:R73G	R	-	1	2	MCART1	37878331	1.000000	0.71417	0.951000	0.38953	0.903000	0.53119	2.106000	0.41835	0.278000	0.22164	0.477000	0.44152	AGA		0.438	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		C	37888331	T	C	37888331	3	2	19	1	0	0	0	0	1	0	0	0	9369	1559	54	2	680	2	MCART1	9	37888331	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10		37888331	103325100	61	1418											
FAM22G	441457	broad.mit.edu	37	chr9	99701229	99701231	+	In_Frame_Del	DEL	CTT	CTT	-																															aagaggcctcagcccatcacCttctcctgccagcaagtcca																								rs201499337|rs372223045		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr9:99701229_99701231delCTT	ENST00000372322.3	+	7	2045_2047	c.2024_2026delCTT	c.(2023-2028)ccttct>cct	p.S676del	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	676																	AGCCCATCACCTTCTCCTGCCAG	0.611																																						.											0									,	59,2459		28,3,1228					,	-2	0			46	135,6387		64,7,3190	no	coding,intron	FAM22G	NM_001170741.1,NM_001045477.2	,	92,10,4418	A1A1,A1R,RR		2.0699,2.3431,2.146	,	,		194,8846				SO:0001651	inframe_deletion	441457				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.2024_2026delCTT	9.37:g.99701229_99701231delCTT	ENSP00000361397:p.Ser676del		A6NNI5|Q5VZR3	In_Frame_Del	DEL	ENST00000372322.3	37	CCDS55329.1																																																																																				0.611	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		-	99701231	CTT	-	99701229	7	5	19	1	0	1	0	1	0	0	0	0	5546	681	24	0	2050	0	FAM22G	9	99701229	In_Frame_Del	DEL	CTT	TCGA-KL-8341-01A-11D-2310-10	61812898	99701229	41512202	62	1419											
OR13C2	392376	broad.mit.edu	37	chr9	107367738	107367738	+	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	1	0	0	0	0	0	0	0	0	cccagaaagaagtacataggGgtgtgaaggtgagggtccaa	14	6	15	6	0	0	4	0	2	0	2	1	4	1	4	2	4	1	1	2	4	6	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr9:107367738G>C	ENST00000542196.1	-	1	213	c.171C>G	c.(169-171)acC>acG	p.T57T		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGTACATAGGGGTGTGAAGGT	0.448																																						.											0													17	18	18					9																	107367738		2179	4273	6452	SO:0001819	synonymous_variant	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.171C>G	9.37:g.107367738G>C			B9EGV8|Q6IF54	Silent	SNP	ENST00000542196.1	37	CCDS35092.1																																																																																				0.448	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		C	107367738	G	C	107367738	2	2	19	1	0	0	0	0	0	0	0	1	10934	1219	43	5		5	OR13C2	9	107367738	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	7666509	107367738	33845693	63	1420											
KCNMA1	3778	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	78649263	78649263	+	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	catctctcagccggtaaattCcaaaacaaagcatattatat	16	11	4	10	1	2	0	1	0	1	0	4	0	3	0	2	1	3	2	2	1	8	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr10:78649263C>A	ENST00000286628.8	-	27	3406	c.3407G>T	c.(3406-3408)gGa>gTa	p.G1136V	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G1119V|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G1078V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G1136V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G1105V|KCNMA1_ENST00000286627.5_Missense_Mutation_p.G1078V|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1140V|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G1139V	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1136					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)	CCGGTAAATTCCAAAACAAAG	0.443																																						.											0													88	87	87					10																	78649263		2203	4300	6503	SO:0001583	missense	3778			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.3407G>T	10.37:g.78649263C>A	ENSP00000286628:p.Gly1136Val		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.3|23.3|23.3	4.404355|4.404355|4.404355	0.83230|0.83230|0.83230	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	.|D;D;D;D;D;D;D;D;D|.	.|0.95949|.	.|-3.77;-3.73;-3.79;-3.83;-3.71;-3.73;-3.86;-3.85;-3.69|.	6.17|6.17|6.17	5.27|5.27|5.27	0.74061|0.74061|0.74061	.|.|.	.|0.047500|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|T	.|0.74650|0.74650	.|0.3744|0.3744	M|M|M	0.76170|0.76170|0.76170	2.325|2.325|2.325	0.80722|0.80722|0.80722	D|D|D	1|1|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|.	.|T|T	.|0.75687|0.75687	.|-0.3231|-0.3231	.|10|5	.|0.87932|.	.|D|.	.|0|.	-9.6059|-9.6059|-9.6059	15.336|15.336|15.336	0.74255|0.74255|0.74255	0.0:0.9338:0.0:0.0662|0.0:0.9338:0.0:0.0662|0.0:0.9338:0.0:0.0662	.|.|.	.|1107;1108;1119;1136;1078;889;1139;1105|.	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.|.;.;.;KCMA1_HUMAN;.;.;.;.|.	X|V|C	1029|1078;1015;1071;1110;1073;1105;1078;1110;1140;1139;1119;889|1066;785	.|ENSP00000361517:G1078V;ENSP00000361485:G1015V;ENSP00000361514:G1071V;ENSP00000396608:G1110V;ENSP00000361520:G1105V;ENSP00000286627:G1078V;ENSP00000385552:G1140V;ENSP00000346321:G1139V;ENSP00000385806:G1119V|.	.|ENSP00000286627:G1078V|.	E|G|W	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78319269|78319269|78319269	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	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	1.630000|1.630000|1.630000	0.50440|0.50440|0.50440	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.443	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		A	78649263	C	A	78649263	3	1	19	1	0	0	0	0	1	0	0	0	8073	855	30	5	340	5	KCNMA1	10	78649263	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		78649263	56885484	64	1421											
MUC6	4588	mdanderson.org	37	chr11	1018031	1018031	+	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	ttgaaggatgttgccgtcatGggacctgtggaagagaaggg	10	9	17	5	1	1	2	1	1	0	1	1	6	1	5	2	4	1	1	2	4	3	2	rs10751678	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:1018031G>A	ENST00000421673.2	-	31	4820	c.4770C>T	c.(4768-4770)ccC>ccT	p.P1590P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1590	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)		TTGCCGTCATGGGACCTGTGG	0.582																																						.											0													259	261	260					11																	1018031		2159	4236	6395	SO:0001819	synonymous_variant	4588			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.4770C>T	11.37:g.1018031G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018031	G	A	1018031	2	1	19	1	0	0	0	0	0	0	0	1	9980	1335	47	4		4	MUC6	11	1018031	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10		1018031	133988485	65	1422											
MUC2	4583	mdanderson.org	37	chr11	1092459	1092459	+	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	accacccccagccctccaacCaccaccacaaccacccctcc	11	2	1	27	0	0	0	0	0	0	0	2	0	2	0	12	0	3	0	12	0	2	0	rs374506032		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:1092459C>A	ENST00000441003.2	+	30	4305	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1427T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4232	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)	gccctccaaccaccaccacaa	0.617																																						.											0													126	187	167					11																	1092459		1722	3421	5143	SO:0001819	synonymous_variant	4583			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.4278C>A	11.37:g.1092459C>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092459	C	A	1092459	2	1	19	1	0	0	0	0	0	0	0	1	9975	581	21	5		5	MUC2	11	1092459	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	74428	1092459	133914057	66	1423											
MUC2	4583	mdanderson.org	37	chr11	1092953	1092953	+	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	acccatcaccaccaccactaCggtgaccccaaccccaacac	13	3	3	22	1	1	1	1	1	0	0	1	1	1	1	8	1	3	0	8	1	3	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:1092953C>T	ENST00000441003.2	+	30	4799	c.4772C>T	c.(4771-4773)aCg>aTg	p.T1591M	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Splice_Site_p.T1592M	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)		p.T1592M(1)|p.T1591M(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)	accaccactacggtgacccca	0.627																																						.											2	Substitution - Missense(2)	endometrium(2)											54	86	74					11																	1092953		1812	3313	5125	SO:0001583	missense	4583			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.4772C>T	11.37:g.1092953C>T	ENSP00000415183:p.Thr1591Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.179	-0.168424	0.06461	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.16743	2.32;2.56	1.75	-0.619	0.11572	.	6.725620	0.00827	U	0.001636	T	0.08846	0.0219	.	.	.	0.09310	N	1	D	0.60575	0.988	B	0.34489	0.184	T	0.24548	-1.0157	9	0.32370	T	0.25	.	3.3423	0.07123	0.2481:0.5888:0.0:0.163	.	1591	E7EUV1	.	M	1591;1592	ENSP00000415183:T1591M;ENSP00000351956:T1592M	ENSP00000351956:T1592M	T	+	2	0	MUC2	1082953	0.064000	0.20934	0.000000	0.03702	0.189000	0.23516	1.615000	0.36922	-0.313000	0.08728	0.121000	0.15741	ACG		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092953	C	T	1092953	3	4	19	1	0	0	0	0	1	0	0	0	9975	536	19	1	4890	1	MUC2	11	1092953	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	494	1092953	133913563	67	1424											
OR2AG1	144125	mdanderson.org	37	chr11	6806963	6806963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatatgccatcaaatgAggggaggaagaaagcccttg	13	7	12	9	0	1	2	1	1	0	1	2	4	2	4	3	3	2	1	3	3	4	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:6806963A>G	ENST00000307401.4	+	1	716	c.695A>G	c.(694-696)gAg>gGg	p.E232G		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCATCAAATGAGGGGAGGAAG	0.488																																						.											0													191	167	175					11																	6806963		2201	4296	6497	SO:0001583	missense	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.695A>G	11.37:g.6806963A>G	ENSP00000307447:p.Glu232Gly		B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455720	0.26161	.	.	ENSG00000170803	ENST00000307401	T	0.00207	8.55	4.32	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.262449	0.27262	N	0.020175	T	0.00178	0.0005	L	0.46567	1.45	0.09310	N	1	B	0.23540	0.087	B	0.33799	0.17	T	0.32322	-0.9911	10	0.66056	D	0.02	.	5.2013	0.15267	0.6326:0.1874:0.0:0.1801	.	232	Q9H205	O2AG1_HUMAN	G	232	ENSP00000307447:E232G	ENSP00000307447:E232G	E	+	2	0	OR2AG1	6763539	0.000000	0.05858	0.752000	0.31206	0.992000	0.81027	0.285000	0.18883	0.800000	0.34041	0.533000	0.62120	GAG		0.488	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		G	6806963	A	G	6806963	3	3	19	1	0	0	0	0	1	0	0	0	10984	304	11	2	697	2	OR2AG1	11	6806963	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	5714010	6806963	128199553	68	1425											
PARVA	55742	broad.mit.edu	37	chr11	12399324	12399324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccggaggaagaaagccAaggagggtgagtgcggccag	11	3	19	8	2	0	2	0	1	0	1	0	5	0	5	3	6	2	0	3	6	3	0			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:12399324A>G	ENST00000550549.1	+	1	179	c.130A>G	c.(130-132)Aag>Gag	p.K44E	PARVA_ENST00000539723.1_Missense_Mutation_p.K44E|PARVA_ENST00000334956.8_Missense_Mutation_p.K84E			Q9NVD7	PARVA_HUMAN	parvin, alpha	44					actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GAAGAAAGCCAAGGAGGGTGA	0.716																																						.											0													10	12	11					11																	12399324		1818	4020	5838	SO:0001583	missense	55742			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"Parvins"	14652	protein-coding gene	gene with protein product		608120	"matrix-remodelling associated 2"	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.130A>G	11.37:g.12399324A>G	ENSP00000447198:p.Lys44Glu		Q96C85|Q9HA48	Missense_Mutation	SNP	ENST00000550549.1	37		.	.	.	.	.	.	.	.	.	.	A	14.17	2.454402	0.43634	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549	T;T;T	0.42131	0.98;0.98;0.98	4.45	3.3	0.37823	Calponin homology domain (1);	0.134476	0.47852	D	0.000211	T	0.36663	0.0975	L	0.55213	1.73	0.80722	D	1	B;B	0.32753	0.002;0.383	B;B	0.32928	0.005;0.155	T	0.11916	-1.0568	10	0.42905	T	0.14	-5.5035	10.0079	0.41968	0.8485:0.0:0.0:0.1515	.	44;44	Q9NVD7;Q9NVD7-2	PARVA_HUMAN;.	E	84;44;44	ENSP00000334008:K84E;ENSP00000438967:K44E;ENSP00000447198:K44E	ENSP00000334008:K84E	K	+	1	0	PARVA	12355900	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	6.113000	0.71553	0.554000	0.29061	0.379000	0.24179	AAG		0.716	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222		G	12399324	A	G	12399324	3	3	19	1	0	0	0	0	1	0	0	0	11468	131	5	4	132	4	PARVA	11	12399324	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	5592361	12399324	122607192	69	1426											
OR5AK2	390181	broad.mit.edu;ucsc.edu	37	chr11	56756940	56756940	+	Silent	SNP	T	T	A																															ttctgtgatgttccccctatTcttgctctttcatgctccaa																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:56756940T>A	ENST00000326855.2	+	1	594	c.552T>A	c.(550-552)atT>atA	p.I184I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	184						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(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTCCCCCTATTCTTGCTCTTT	0.408																																						.											0													347	311	323					11																	56756940		2201	4296	6497	SO:0001819	synonymous_variant	390181			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.552T>A	11.37:g.56756940T>A			B2RNZ9	Silent	SNP	ENST00000326855.2	37	CCDS31538.1																																																																																				0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		A	56756940	T	A	56756940	2	1	19	1	0	0	0	0	0	0	0	1	11142	1771	62	5		5	OR5AK2	11	56756940	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	44357616	56756940	78249576	70	1427	37	2									
OR5AK2	390181	bcgsc.ca	37	chr11	56756941	56756941	+	Missense_Mutation	SNP	C	C	T																															tctgtgatgttccccctattCttgctctttcatgctccaat																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:56756941C>T	ENST00000326855.2	+	1	595	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	185						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(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCCCCCTATTCTTGCTCTTTC	0.408																																						.											0													348	311	324					11																	56756941		2201	4296	6497	SO:0001583	missense	390181			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.553C>T	11.37:g.56756941C>T	ENSP00000322784:p.Leu185Phe		B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	7.340	0.620621	0.14193	.	.	ENSG00000181273	ENST00000326855	T	0.00325	8.1	3.85	0.549	0.17213	GPCR, rhodopsin-like superfamily (1);	0.222920	0.22703	N	0.056674	T	0.00440	0.0014	M	0.64676	1.99	0.09310	N	1	D	0.67145	0.996	D	0.70716	0.97	T	0.48614	-0.9020	10	0.56958	D	0.05	-30.6449	8.696	0.34296	0.1499:0.5052:0.3448:0.0	.	185	Q8NH90	O5AK2_HUMAN	F	185	ENSP00000322784:L185F	ENSP00000322784:L185F	L	+	1	0	OR5AK2	56513517	0.000000	0.05858	0.188000	0.23233	0.040000	0.13550	-1.136000	0.03222	0.014000	0.14944	0.194000	0.17425	CTT		0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		T	56756941	C	T	56756941	3	4	19	1	0	0	0	0	1	0	0	0	11142	913	32	4	555	4	OR5AK2	11	56756941	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	1	56756941	78249575	71	1428	37	2									
UCP2	7351	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	73686146	73686146	+	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	ccacgttccaggaacccaagCggagaaaggagggcatgaac	14	3	13	11	2	0	2	0	1	0	1	1	5	1	4	3	4	3	2	3	4	4	1	rs376686039		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:73686146C>T	ENST00000310473.3	-	8	1678	c.836G>A	c.(835-837)cGc>cAc	p.R279H	UCP2_ENST00000536983.1_Missense_Mutation_p.A219T	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	279	Purine nucleotide binding. {ECO:0000250}.				aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GGAACCCAAGCGGAGAAAGGA	0.567																																					Colon(191;388 2040 43557 45622 48925)	.											0													85	71	75					11																	73686146		2200	4293	6493	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.836G>A	11.37:g.73686146C>T	ENSP00000312029:p.Arg279His		Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.550502|4.550502	0.86127|0.86127	.|.	.|.	ENSG00000175567|ENSG00000175567	ENST00000536983|ENST00000310473;ENST00000544615	T|D;D	0.79653|0.81996	-1.29|-1.56;-1.56	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Mitochondrial carrier domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94637|0.94637	0.8271|0.8271	H|H	0.97874|0.97874	4.095|4.095	0.44104|0.44104	D|D	0.996874|0.996874	B|D	0.16802|0.76494	0.019|0.999	B|D	0.17722|0.71184	0.019|0.972	D|D	0.96186|0.96186	0.9134|0.9134	9|10	0.27082|0.87932	T|D	0.32|0	-2.7097|-2.7097	17.9618|17.9618	0.89087|0.89087	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	219|279	F5GX45|P55851	.|UCP2_HUMAN	T|H	219|279;252	ENSP00000441147:A219T|ENSP00000312029:R279H;ENSP00000439951:R252H	ENSP00000441147:A219T|ENSP00000312029:R279H	A|R	-|-	1|2	0|0	UCP2|UCP2	73363794|73363794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.528000|7.528000	0.81941|0.81941	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.567	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		T	73686146	C	T	73686146	3	4	19	1	0	0	0	0	1	0	0	0	16928	768	27	1	97	1	UCP2	11	73686146	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	16929205	73686146	61320370	72	1429											
DLG2	1740	broad.mit.edu	37	chr11	84996301	84996301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgtcatggcacggagcaAgaagggatgtcttctcccat	9	10	12	10	1	4	1	1	0	3	1	5	3	4	3	1	3	1	2	1	3	2	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:84996301A>G	ENST00000376104.2	-	4	460	c.149T>C	c.(148-150)cTt>cCt	p.L50P	DLG2_ENST00000543673.1_Missense_Mutation_p.L50P	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)				GCACGGAGCAAGAAGGGATGT	0.368																																						.											0													229	204	212					11																	84996301		1568	3581	5149	SO:0001583	missense	1740			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.149T>C	11.37:g.84996301A>G	ENSP00000365272:p.Leu50Pro		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000376104.2	37	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	A	6.469	0.454637	0.12283	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.13307	2.6;2.6	5.88	4.76	0.60689	.	0.859826	0.09766	N	0.758589	T	0.05640	0.0148	N	0.02802	-0.49	0.21386	N	0.999704	B	0.09022	0.002	B	0.06405	0.002	T	0.42932	-0.9422	9	.	.	.	.	5.9412	0.19194	0.715:0.1404:0.1446:0.0	.	50	Q15700-2	.	P	50	ENSP00000365272:L50P;ENSP00000441994:L50P	.	L	-	2	0	DLG2	84673949	0.992000	0.36948	0.279000	0.24732	0.289000	0.27227	0.970000	0.29383	1.050000	0.40346	-0.263000	0.10527	CTT		0.368	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364		G	84996301	A	G	84996301	3	3	19	1	0	0	0	0	1	0	0	0	4555	72	3	2	3083	2	DLG2	11	84996301	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	11310155	84996301	50010215	73	1430											
APOA1	335	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	116707862	116707862	+	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	atcttgctgccagaaatgccGagcctggctccctgagggtg	7	9	13	12	1	1	2	0	1	1	1	2	3	2	2	4	2	4	2	4	2	1	1	rs371084971		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:116707862G>A	ENST00000236850.4	-	3	420	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375320.1_Missense_Mutation_p.R19W|APOA1_ENST00000375329.2_Intron|APOA1_ENST00000375323.1_Missense_Mutation_p.R19W|APOA1_ENST00000359492.2_Missense_Mutation_p.R19W	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	19					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)		CAGAAATGCCGAGCCTGGCTC	0.632																																						.											0								G	TRP/ARG	0,4402		0,0,2201	49	56	54		55	1.3	1	11		54	1,8589	1.2+/-3.3	0,1,4294	no	missense	APOA1	NM_000039.1	101	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	19/268	116707862	1,12991	2201	4295	6496	SO:0001583	missense	335			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.55C>T	11.37:g.116707862G>A	ENSP00000236850:p.Arg19Trp		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	ENST00000236850.4	37	CCDS8378.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107700	0.37242	0.0	1.16E-4	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375323;ENST00000236850	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.76	1.33	0.21861	.	0.381500	0.17497	N	0.172134	T	0.51312	0.1667	L	0.59912	1.85	0.27392	N	0.955111	P	0.36959	0.575	B	0.24974	0.057	T	0.43278	-0.9401	10	0.40728	T	0.16	-18.0312	5.5232	0.16943	0.0771:0.1121:0.574:0.2368	.	19	P02647	APOA1_HUMAN	W	19	ENSP00000364469:R19W;ENSP00000352471:R19W;ENSP00000364472:R19W;ENSP00000236850:R19W	ENSP00000236850:R19W	R	-	1	2	APOA1	116213072	0.969000	0.33509	0.999000	0.59377	0.972000	0.66771	1.680000	0.37607	0.416000	0.25844	0.462000	0.41574	CGG		0.632	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106281.2	NM_000039		A	116707862	G	A	116707862	3	1	19	1	0	0	0	0	1	0	0	0	780	1057	37	1	756	1	APOA1	11	116707862	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	31711561	116707862	18298654	74	1431											
KDM5A	5927	broad.mit.edu;mdanderson.org	37	chr12	416696	416696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctcgagccgcctgtTccaccatacgctggctcaac	6	13	7	15	3	2	0	1	0	1	0	4	1	3	0	4	1	3	3	4	1	2	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:416696T>C	ENST00000399788.2	-	23	4216	c.3854A>G	c.(3853-3855)gAa>gGa	p.E1285G	KDM5A_ENST00000382815.4_Missense_Mutation_p.E1285G	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1285					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						AGCCGCCTGTTCCACCATACG	0.483			T	NUP98	AML																																	.		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													99	96	97					12																	416696		2000	4188	6188	SO:0001583	missense	5927				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.3854A>G	12.37:g.416696T>C	ENSP00000382688:p.Glu1285Gly		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446132	0.63178	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85773	-2.03;-1.84	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	L	0.35854	1.095	0.80722	D	1	B;B	0.19935	0.04;0.029	B;B	0.22880	0.019;0.042	T	0.74979	-0.3479	10	0.31617	T	0.26	-23.6818	16.1762	0.81855	0.0:0.0:0.0:1.0	.	1285;1285	P29375;P29375-2	KDM5A_HUMAN;.	G	1285	ENSP00000382688:E1285G;ENSP00000372265:E1285G	ENSP00000372265:E1285G	E	-	2	0	KDM5A	286957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.283000	0.76528	0.477000	0.44152	GAA		0.483	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		C	416696	T	C	416696	3	2	19	1	0	0	0	0	1	0	0	0	8133	1783	62	4	1242	4	KDM5A	12	416696	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10		416696	133435199	75	1432											
KRT2	3849	broad.mit.edu	37	chr12	53045623	53045624	+	In_Frame_Ins	INS	-	-	GCC																															aagccgctgccacctccaaaINSgctgctgccgcctccaaaac																								rs56850150		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:53045623_53045624insGCC	ENST00000309680.3	-	1	324_325	c.303_304insGGC	c.(301-306)agcttt>agcGGCttt	p.101_102SF>SGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	101	Head.		S -> G (in dbSNP:rs2634041). {ECO:0000269|PubMed:1380918, ECO:0000269|PubMed:9804344}.		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)		ccacctccaaagctgctgccgc	0.614																																						.											0																																										SO:0001652	inframe_insertion	3849				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.303_304insGGC	12.37:g.53045623_53045624insGCC	ENSP00000310861:p.Ser101_Phe102insGly		Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	37	CCDS8835.1																																																																																				0.614	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		GCC	53045624	-	GCC	53045623	7	5	19	1	0	1	1	0	0	0	0	0	8457	72	3	0	1651	0	KRT2	12	53045623	In_Frame_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	52628927	53045623	80806272	76	1433											
SRGAP1	57522	hgsc.bcm.edu;ucsc.edu	37	chr12	64436722	64436722	+	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	agacatcaacggcgaagctcTgtaaagaaaattgaaaaaat	20	7	8	6	2	2	3	1	1	1	2	2	4	2	3	0	1	2	2	0	1	9	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:64436722T>A	ENST00000355086.3	+	5	1166	c.642T>A	c.(640-642)tcT>tcA	p.S214S	SRGAP1_ENST00000357825.3_Silent_p.S214S|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S174S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	214	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|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)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GGCGAAGCTCTGTAAAGAAAA	0.393																																						.											0													55	56	55					12																	64436722		2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.642T>A	12.37:g.64436722T>A			Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	CCDS8967.1																																																																																				0.393	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			A	64436722	T	A	64436722	2	1	19	1	0	0	0	0	0	0	0	1	15144	1567	55	5		5	SRGAP1	12	64436722	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	11391099	64436722	69415173	77	1434											
SLC35E3	55508	broad.mit.edu;mdanderson.org	37	chr12	69140526	69140526	+	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	atccagaccttctgctaccaGaaaaccttctccaccagaat	13	9	4	15	0	2	3	0	0	2	3	4	3	3	3	6	0	3	1	6	0	4	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:69140526G>A	ENST00000398004.2	+	1	641	c.369G>A	c.(367-369)caG>caA	p.Q123Q		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	123						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)			TCTGCTACCAGAAAACCTTCT	0.567																																						.											0													108	113	112					12																	69140526		1948	4151	6099	SO:0001819	synonymous_variant	55508			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.369G>A	12.37:g.69140526G>A			A8K0T0|Q0P5Y5|Q9P0V1	Silent	SNP	ENST00000398004.2	37	CCDS41808.1																																																																																				0.567	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		A	69140526	G	A	69140526	2	1	19	1	0	0	0	0	0	0	0	1	14586	933	33	4		4	SLC35E3	12	69140526	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	4703804	69140526	64711369	78	1435											
CEP290	80184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	88444148	88444148	+	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	taccttcaaatgctgcttttCtagatctgacattttgagct	9	17	6	9	0	3	3	1	2	2	1	3	3	3	3	1	0	4	3	1	0	3	7			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:88444148C>T	ENST00000552810.1	-	53	7535	c.7192G>A	c.(7192-7194)Gaa>Aaa	p.E2398K	RNA5SP364_ENST00000516938.1_RNA|CEP290_ENST00000397838.3_Missense_Mutation_p.E1458K|CEP290_ENST00000309041.7_Missense_Mutation_p.E2400K|CEP290_ENST00000547691.2_Missense_Mutation_p.E1458K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2398					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						TGCTGCTTTTCTAGATCTGAC	0.299																																						.											0													90	79	82					12																	88444148		1808	4073	5881	SO:0001583	missense	80184			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.7192G>A	12.37:g.88444148C>T	ENSP00000448012:p.Glu2398Lys		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435975	0.83885	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.75704	-0.13;-0.96;-0.95;-0.13	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77644	0.4161	M	0.73598	2.24	0.39180	D	0.962756	P	0.49862	0.929	P	0.46419	0.516	T	0.80576	-0.1321	10	0.40728	T	0.16	.	15.0296	0.71696	0.0:1.0:0.0:0.0	.	2398	O15078	CE290_HUMAN	K	1458;2398;2400;1458	ENSP00000446905:E1458K;ENSP00000448012:E2398K;ENSP00000308021:E2400K;ENSP00000380938:E1458K	ENSP00000308021:E2400K	E	-	1	0	CEP290	86968279	0.998000	0.40836	0.993000	0.49108	0.796000	0.44982	5.011000	0.64011	2.346000	0.79739	0.655000	0.94253	GAA		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		T	88444148	C	T	88444148	3	4	19	1	0	0	0	0	1	0	0	0	3253	922	32	4	255	4	CEP290	12	88444148	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	19303622	88444148	45407747	79	1436											
ATP12A	479	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr13	25255781	25255781	+	Missense_Mutation	SNP	T	T	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	agggggatggcaaggagaagTataggggtctgaagaacaac	15	5	17	4	0	1	3	0	1	1	2	1	5	1	4	0	6	2	2	0	6	7	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr13:25255781T>C	ENST00000381946.3	+	2	258	c.91T>C	c.(91-93)Tat>Cat	p.Y31H	ATP12A_ENST00000218548.6_Missense_Mutation_p.Y31H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	31					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)		CAAGGAGAAGTATAGGGGTCT	0.473																																					Pancreas(156;1582 1935 18898 22665 26498)	.											0													94	92	93					13																	25255781		2203	4300	6503	SO:0001583	missense	479			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.91T>C	13.37:g.25255781T>C	ENSP00000371372:p.Tyr31His		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	4.130	0.022384	0.08006	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.92911	-3.13;-3.13	5.32	-2.04	0.07343	.	17.266700	0.00166	N	0.000000	T	0.79621	0.4477	N	0.08118	0	0.23371	N	0.997817	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.69316	-0.5177	10	0.18710	T	0.47	.	0.768	0.01018	0.2498:0.161:0.1322:0.457	.	31;31	P54707-2;P54707	.;AT12A_HUMAN	H	31	ENSP00000218548:Y31H;ENSP00000371372:Y31H	ENSP00000218548:Y31H	Y	+	1	0	ATP12A	24153781	0.921000	0.31238	0.386000	0.26170	0.231000	0.25187	0.416000	0.21198	-0.091000	0.12440	-0.336000	0.08194	TAT		0.473	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		C	25255781	T	C	25255781	3	2	19	1	0	0	0	0	1	0	0	0	1122	1638	57	2	97	2	ATP12A	13	25255781	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10		25255781	89914097	80	1437											
FNDC3A	22862	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	49771038	49771038	+	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	accattttcagaaaaatgtgAtattactacagcccctgggc	13	11	7	10	0	1	2	1	1	0	1	1	2	1	2	3	1	3	0	3	1	5	5	rs368353457		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr13:49771038A>T	ENST00000492622.2	+	20	2557	c.2252A>T	c.(2251-2253)gAt>gTt	p.D751V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.D695V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.D751V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	751	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GAAAAATGTGATATTACTACA	0.388																																						.											0													98	93	95					13																	49771038		2203	4300	6503	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2252A>T	13.37:g.49771038A>T	ENSP00000417257:p.Asp751Val		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168264	0.38315	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.52057	0.68;0.68;0.68	5.26	5.26	0.73747	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.260892	0.31772	N	0.007085	T	0.30262	0.0759	N	0.12443	0.215	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.09640	-1.0665	10	0.20519	T	0.43	-8.0455	14.3424	0.66636	1.0:0.0:0.0:0.0	.	695;751	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	V	751;687;751;695	ENSP00000417257:D751V;ENSP00000441831:D751V;ENSP00000381362:D695V	ENSP00000338579:D687V	D	+	2	0	FNDC3A	48669039	1.000000	0.71417	0.989000	0.46669	0.866000	0.49608	8.730000	0.91510	1.984000	0.57885	0.379000	0.24179	GAT		0.388	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		T	49771038	A	T	49771038	3	4	19	1	0	0	0	0	1	0	0	0	5969	333	12	5	2337	5	FNDC3A	13	49771038	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	24515257	49771038	65398840	81	1438											
OR4M1	441670	broad.mit.edu;mdanderson.org	37	chr14	20248894	20248894	+	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	ctatgctaccatcatgaatcGacgtctctgctgtatcctgg	8	13	8	12	2	2	1	1	1	1	0	5	2	3	1	2	1	3	3	2	1	4	3	rs373032779		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20248894G>A	ENST00000315957.4	+	1	494	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCATGAATCGACGTCTCTGC	0.522																																						.											0									GLN/ARG	0,4406		0,0,2203	262	271	268		413	0.2	0.8	14		268	1,8599		0,1,4299	no	missense	OR4M1	NM_001005500.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	138/314	20248894	1,13005	2203	4300	6503	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.413G>A	14.37:g.20248894G>A	ENSP00000319654:p.Arg138Gln		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	4.713	0.132514	0.09032	0.0	1.16E-4	ENSG00000176299	ENST00000315957	T	0.01347	4.99	4.33	0.153	0.14897	GPCR, rhodopsin-like superfamily (1);	0.433156	0.17204	N	0.183018	T	0.00967	0.0032	N	0.26042	0.785	0.09310	N	1	B	0.30709	0.291	B	0.15484	0.013	T	0.50591	-0.8810	10	0.25106	T	0.35	-0.216	6.2969	0.21091	0.1759:0.2841:0.54:0.0	.	138	Q8NGD0	OR4M1_HUMAN	Q	138	ENSP00000319654:R138Q	ENSP00000319654:R138Q	R	+	2	0	OR4M1	19318734	0.000000	0.05858	0.766000	0.31476	0.547000	0.35210	-0.556000	0.05992	0.218000	0.20820	-1.720000	0.00707	CGA		0.522	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			A	20248894	G	A	20248894	3	1	19	1	0	0	0	0	1	0	0	0	11075	1058	37	1	415	1	OR4M1	14	20248894	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10		20248894	87100646	82	1439											
OR4K5	79317	mdanderson.org	37	chr14	20389305	20389305	+	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	gtagacagctttttttgtgaTcttcctcgagtcaccaaact	9	15	7	10	1	2	2	1	1	1	1	4	3	3	2	2	0	2	2	2	0	2	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20389305T>C	ENST00000315915.4	+	1	565	c.540T>C	c.(538-540)gaT>gaC	p.D180D		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTTTGTGATCTTCCTCGAG	0.423																																						.											0													249	263	258					14																	20389305		2203	4300	6503	SO:0001819	synonymous_variant	79317			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.540T>C	14.37:g.20389305T>C			Q6IFA7	Silent	SNP	ENST00000315915.4	37	CCDS32024.1																																																																																				0.423	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		C	20389305	T	C	20389305	2	2	19	1	0	0	0	0	0	0	0	1	11073	1432	50	4		4	OR4K5	14	20389305	Silent	SNP	T	TCGA-KL-8341-01A-11D-2310-10	140411	20389305	86960235	83	1440											
OR4K17	390436	broad.mit.edu	37	chr14	20586424	20586424	+	Frame_Shift_Del	DEL	T	T	-																															tcttctttggcccatgcatcTttatctacatttggcccttc																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586424delT	ENST00000315543.4	+	1	859	c.859delT	c.(859-861)tttfs	p.F287fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCATGCATCTTTATCTACAT	0.423																																						.											0													116	105	108					14																	20586424		2203	4300	6503	SO:0001589	frameshift_variant	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.859delT	14.37:g.20586424delT	ENSP00000319197:p.Phe287fs		Q6IF12	Frame_Shift_Del	DEL	ENST00000315543.4	37	CCDS32030.1																																																																																				0.423	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			-	20586424	T	-	20586424	7	5	19	1	0	1	0	1	0	0	0	0	11071	1609	56	0	861	0	OR4K17	14	20586424	Frame_Shift_Del	DEL	T	TCGA-KL-8341-01A-11D-2310-10	197119	20586424	86763116	84	1441	38	4									
OR4K17	390436	bcgsc.ca	37	chr14	20586425	20586425	+	Frame_Shift_Del	DEL	T	T	-																															cttctttggcccatgcatctTtatctacatttggcccttcg																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586425delT	ENST00000315543.4	+	1	860	c.860delT	c.(859-861)tttfs	p.F287fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCATGCATCTTTATCTACATT	0.423																																						.											0													114	104	107					14																	20586425		2203	4300	6503	SO:0001589	frameshift_variant	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.860delT	14.37:g.20586425delT	ENSP00000319197:p.Phe287fs		Q6IF12	Frame_Shift_Del	DEL	ENST00000315543.4	37	CCDS32030.1																																																																																				0.423	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			-	20586425	T	-	20586425	7	5	19	1	0	1	0	1	0	0	0	0	11071	1841	64	0	862	0	OR4K17	14	20586425	Frame_Shift_Del	DEL	T	TCGA-KL-8341-01A-11D-2310-10	1	20586425	86763115	85	1442	38	4									
OR4K17	390436	broad.mit.edu	37	chr14	20586433	20586434	+	Frame_Shift_Ins	INS	-	-	T																															cccatgcatctttatctacaINStttggcccttcggcaaccac																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586433_20586434insT	ENST00000315543.4	+	1	868_869	c.868_869insT	c.(868-870)attfs	p.I290fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTTATCTACATTTGGCCCTTC	0.421																																						.											0																																										SO:0001589	frameshift_variant	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.871dupT	14.37:g.20586436_20586436dupT	ENSP00000319197:p.Ile290fs		Q6IF12	Frame_Shift_Ins	INS	ENST00000315543.4	37	CCDS32030.1																																																																																				0.421	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			T	20586434	-	T	20586433	7	5	19	1	0	1	1	0	0	0	0	0	11071	217	8	0	870	0	OR4K17	14	20586433	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	8	20586433	86763107	86	1443	38	4									
OR4K17	390436	bcgsc.ca	37	chr14	20586434	20586435	+	Frame_Shift_Ins	INS	-	-	T																															ccatgcatctttatctacatINSttggcccttcggcaaccact																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586434_20586435insT	ENST00000315543.4	+	1	869_870	c.869_870insT	c.(868-873)atttggfs	p.W291fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	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(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTATCTACATTTGGCCCTTCG	0.426																																						.											0																																										SO:0001589	frameshift_variant	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.871dupT	14.37:g.20586436_20586436dupT	ENSP00000319197:p.Trp291fs		Q6IF12	Frame_Shift_Ins	INS	ENST00000315543.4	37	CCDS32030.1																																																																																				0.426	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			T	20586435	-	T	20586434	7	5	19	1	0	1	1	0	0	0	0	0	11071	1493	52	0	871	0	OR4K17	14	20586434	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	1	20586434	86763106	87	1444	38	4									
MYH7	4625	mdanderson.org	37	chr14	23885477	23885477	+	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	gccttgatctggttgaactcCagctgggcccggaggatctt	6	11	13	11	1	2	2	0	2	2	0	3	4	3	4	3	4	2	2	3	4	1	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:23885477C>T	ENST00000355349.3	-	34	4851	c.4689G>A	c.(4687-4689)ctG>ctA	p.L1563L	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	1563					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)		GGTTGAACTCCAGCTGGGCCC	0.647																																						.											0													124	123	123					14																	23885477		2203	4300	6503	SO:0001819	synonymous_variant	4625			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.4689G>A	14.37:g.23885477C>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.647	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23885477	C	T	23885477	2	4	19	1	0	0	0	0	0	0	0	1	10039	581	21	4		4	MYH7	14	23885477	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	3299043	23885477	83464063	88	1445											
MYH7	4625	mdanderson.org	37	chr14	23886718	23886718	+	Silent	SNP	G	G	A																															cacccagggcccaccttgtcGaagttcctctgcttcttgtc																								rs182311329	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:23886718G>A	ENST00000355349.3	-	31	4509	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F	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	1449					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)		CCACCTTGTCGAAGTTCCTCT	0.622													G|||	2	0.000399361	8e-04	0	5008	,	,		16915	0.001		0	False		,,,				2504	0					.											0																																										SO:0001819	synonymous_variant	4625			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.4347C>T	14.37:g.23886718G>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		A	23886718	G	A	23886718	2	1	19	1	0	0	0	0	0	0	0	1	10039	1049	37	1		1	MYH7	14	23886718	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	1241	23886718	83462822	89	1446	39	2									
MYH7	4625	mdanderson.org	37	chr14	23886724	23886724	+	Silent	SNP	C	C	T																															gggcccaccttgtcgaagttCctctgcttcttgtccagggc																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:23886724C>T	ENST00000355349.3	-	31	4503	c.4341G>A	c.(4339-4341)agG>agA	p.R1447R	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	1447					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)		TGTCGAAGTTCCTCTGCTTCT	0.612																																						.											0													99	94	96					14																	23886724		2203	4300	6503	SO:0001819	synonymous_variant	4625			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.4341G>A	14.37:g.23886724C>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.612	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23886724	C	T	23886724	2	4	19	1	0	0	0	0	0	0	0	1	10039	854	30	3		3	MYH7	14	23886724	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	6	23886724	83462816	90	1447	39	2									
AHNAK2	113146	mdanderson.org	37	chr14	105408107	105408107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccacctgggggcccttgaGgtccactttgggcatcttga	5	11	13	12	0	1	2	0	2	1	0	3	2	3	2	4	4	0	1	4	4	0	3	rs200549975		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105408107G>T	ENST00000333244.5	-	7	13800	c.13681C>A	c.(13681-13683)Ctc>Atc	p.L4561I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4561						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)			GGGCCCTTGAGGTCCACTTTG	0.617																																						.											0													153	161	159					14																	105408107		1903	4109	6012	SO:0001583	missense	113146			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.13681C>A	14.37:g.105408107G>T	ENSP00000353114:p.Leu4561Ile		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	3.913	-0.019674	0.07634	.	.	ENSG00000185567	ENST00000333244	T	0.00628	6.11	3.09	-3.06	0.05379	.	2.229260	0.03962	U	0.290278	T	0.00552	0.0018	L	0.31120	0.905	0.09310	N	1	P	0.40032	0.699	B	0.40009	0.316	T	0.45644	-0.9247	10	0.13470	T	0.59	.	1.4002	0.02269	0.1996:0.1066:0.2206:0.4731	.	4561	Q8IVF2	AHNK2_HUMAN	I	4561	ENSP00000353114:L4561I	ENSP00000353114:L4561I	L	-	1	0	AHNAK2	104479152	0.000000	0.05858	0.010000	0.14722	0.232000	0.25224	-2.180000	0.01258	-0.335000	0.08451	0.306000	0.20318	CTC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105408107	G	T	105408107	3	4	19	1	0	0	0	0	1	0	0	0	415	1000	35	5	3710	5	AHNAK2	14	105408107	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	81521383	105408107	1941433	91	1448			2	14		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	chr14	105408140	105408140	+	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	catcttgaaactgggcatctCcaccttgggcaggtgccctt	7	11	10	13	0	2	1	0	1	2	0	3	1	2	1	3	3	2	2	3	3	1	3	rs201663085		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105408140C>G	ENST00000333244.5	-	7	13767	c.13648G>C	c.(13648-13650)Gag>Cag	p.E4550Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4550						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)			CTGGGCATCTCCACCTTGGGC	0.617																																						.											0																																										SO:0001583	missense	113146			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.13648G>C	14.37:g.105408140C>G	ENSP00000353114:p.Glu4550Gln		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.854353	0.00558	.	.	ENSG00000185567	ENST00000333244	T	0.00682	5.86	3.28	0.23	0.15372	.	0.471713	0.14436	N	0.319717	T	0.00356	0.0011	N	0.00855	-1.145	0.09310	N	1	B	0.24768	0.111	B	0.24541	0.054	T	0.43114	-0.9411	10	0.20046	T	0.44	.	7.373	0.26813	0.1694:0.4763:0.3543:0.0	.	4550	Q8IVF2	AHNK2_HUMAN	Q	4550	ENSP00000353114:E4550Q	ENSP00000353114:E4550Q	E	-	1	0	AHNAK2	104479185	0.090000	0.21635	0.084000	0.20598	0.107000	0.19398	-0.347000	0.07750	-0.126000	0.11682	-2.576000	0.00170	GAG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105408140	C	G	105408140	3	3	19	1	0	0	0	0	1	0	0	0	415	864	30	5	3743	5	AHNAK2	14	105408140	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	33	105408140	1941400	92	1449			2	14		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	chr14	105415160	105415160	+	Missense_Mutation	SNP	C	C	G																															ctggccagcctggaccttcaCgtcggcggaaaggggctgaa																								rs201874096	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415160C>G	ENST00000333244.5	-	7	6747	c.6628G>C	c.(6628-6630)Gtg>Ctg	p.V2210L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2210						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)			TGGACCTTCACGTCGGCGGAA	0.637													.|||	169	0.033746	0.0787	0.0101	5008	,	,		18042	0.0347		0.001	False		,,,				2504	0.0225					.											0													112	108	109					14																	105415160		1938	4141	6079	SO:0001583	missense	113146			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.6628G>C	14.37:g.105415160C>G	ENSP00000353114:p.Val2210Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	0.153	-1.089039	0.01873	.	.	ENSG00000185567	ENST00000333244	T	0.01119	5.31	4.26	-0.475	0.12104	.	.	.	.	.	T	0.00666	0.0022	N	0.01454	-0.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52041	-0.8628	9	0.05351	T	0.99	.	20.4837	0.99199	0.0:0.8803:0.1197:0.0	.	2210	Q8IVF2	AHNK2_HUMAN	L	2210	ENSP00000353114:V2210L	ENSP00000353114:V2210L	V	-	1	0	AHNAK2	104486205	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.060000	0.03475	-1.481000	0.01863	-0.332000	0.08345	GTG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105415160	C	G	105415160	3	3	19	1	0	0	0	0	1	0	0	0	415	536	19	5	10763	5	AHNAK2	14	105415160	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	7020	105415160	1934380	93	1450	40	3	2	14		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	chr14	105415166	105415166	+	Missense_Mutation	SNP	C	C	T																															agcctggaccttcacgtcggCggaaaggggctgaatgctga																								rs201667039		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415166C>T	ENST00000333244.5	-	7	6741	c.6622G>A	c.(6622-6624)Gcc>Acc	p.A2208T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2208						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)			TTCACGTCGGCGGAAAGGGGC	0.632																																						.											0													112	105	107					14																	105415166		1935	4135	6070	SO:0001583	missense	113146			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.6622G>A	14.37:g.105415166C>T	ENSP00000353114:p.Ala2208Thr		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	9	0.004120879120879121	7	0.014227642276422764	0	0.0	2	0.0034965034965034965	0	0.0	N	8.172	0.791836	0.16258	.	.	ENSG00000185567	ENST00000333244	T	0.00912	5.55	4.26	-2.56	0.06268	.	.	.	.	.	T	0.00580	0.0019	L	0.45744	1.44	0.09310	N	1	P	0.45428	0.858	B	0.40009	0.316	T	0.40289	-0.9571	9	0.13470	T	0.59	.	1.7149	0.02899	0.1147:0.283:0.2021:0.4002	.	2208	Q8IVF2	AHNK2_HUMAN	T	2208	ENSP00000353114:A2208T	ENSP00000353114:A2208T	A	-	1	0	AHNAK2	104486211	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.254000	0.02874	-1.113000	0.02981	-1.166000	0.01754	GCC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105415166	C	T	105415166	3	4	19	1	0	0	0	0	1	0	0	0	415	768	27	1	10769	1	AHNAK2	14	105415166	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	6	105415166	1934374	94	1451	40	3	2	14		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	chr14	105415171	105415171	+	Missense_Mutation	SNP	A	A	G																															ggaccttcacgtcggcggaaAggggctgaatgctgaggtca																								rs201552064		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415171A>G	ENST00000333244.5	-	7	6736	c.6617T>C	c.(6616-6618)cTt>cCt	p.L2206P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2206						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)			GTCGGCGGAAAGGGGCTGAAT	0.642																																						.											0													116	106	109					14																	105415171		1942	4131	6073	SO:0001583	missense	113146			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.6617T>C	14.37:g.105415171A>G	ENSP00000353114:p.Leu2206Pro		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.966	0.971743	0.18736	.	.	ENSG00000185567	ENST00000333244	T	0.00448	7.38	4.26	4.26	0.50523	.	.	.	.	.	T	0.00073	0.0002	N	0.00012	-2.95	0.34200	D	0.67309	B	0.02656	0.0	B	0.06405	0.002	T	0.02161	-1.1203	9	0.02654	T	1	.	6.4926	0.22123	0.0959:0.0:0.7263:0.1777	.	2206	Q8IVF2	AHNK2_HUMAN	P	2206	ENSP00000353114:L2206P	ENSP00000353114:L2206P	L	-	2	0	AHNAK2	104486216	.	.	0.089000	0.20774	0.013000	0.08279	.	.	0.803000	0.34113	-0.330000	0.08379	CTT		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105415171	A	G	105415171	3	3	19	1	0	0	0	0	1	0	0	0	415	72	3	2	10774	2	AHNAK2	14	105415171	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	5	105415171	1934369	95	1452	40	3	2	14		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	chr14	105415196	105415196	+	Missense_Mutation	SNP	T	T	C																															ctgaatgctgaggtcagtggTcttgaggtccccctgcatgg																								rs200598682		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415196T>C	ENST00000333244.5	-	7	6711	c.6592A>G	c.(6592-6594)Acc>Gcc	p.T2198A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2198						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)			AGGTCAGTGGTCTTGAGGTCC	0.642																																						.											0													123	104	110					14																	105415196		1952	4126	6078	SO:0001583	missense	113146			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.6592A>G	14.37:g.105415196T>C	ENSP00000353114:p.Thr2198Ala		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	9.313	1.056023	0.19907	.	.	ENSG00000185567	ENST00000333244	T	0.00711	5.8	4.41	-1.41	0.08941	.	.	.	.	.	T	0.00496	0.0016	N	0.12920	0.275	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.43861	-0.9365	9	0.07030	T	0.85	.	4.5244	0.11975	0.0:0.3735:0.4008:0.2257	.	2198	Q8IVF2	AHNK2_HUMAN	A	2198	ENSP00000353114:T2198A	ENSP00000353114:T2198A	T	-	1	0	AHNAK2	104486241	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.840000	0.04363	-0.183000	0.10585	0.397000	0.26171	ACC		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415196	T	C	105415196	3	2	19	1	0	0	0	0	1	0	0	0	415	1667	58	2	10799	2	AHNAK2	14	105415196	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	25	105415196	1934344	96	1453	41	2	2	14		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	chr14	105415200	105415200	+	Silent	SNP	G	G	C																															atgctgaggtcagtggtcttGaggtccccctgcatggaggg																								rs10145566	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415200G>C	ENST00000333244.5	-	7	6707	c.6588C>G	c.(6586-6588)ctC>ctG	p.L2196L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2196						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)			CAGTGGTCTTGAGGTCCCCCT	0.637													.|||	1452	0.289936	0.1483	0.3213	5008	,	,		17263	0.1359		0.4891	False		,,,				2504	0.4131					.											0								G		553,3361		51,451,1455	123	103	110		6588	0.3	0	14	dbSNP_119	110	3961,4283		1006,1949,1167	no	coding-synonymous	AHNAK2	NM_138420.2		1057,2400,2622	CC,CG,GG		48.0471,14.1288,37.1278		2196/5796	105415200	4514,7644	1957	4122	6079	SO:0001819	synonymous_variant	113146			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.6588C>G	14.37:g.105415200G>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415200	G	C	105415200	2	2	19	1	0	0	0	0	0	0	0	1	415	1277	45	5		5	AHNAK2	14	105415200	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	4	105415200	1934340	97	1454	41	2	2	14		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	chr14	105415737	105415737	+	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	agactcacgtcggcctccacCttgggtgcaggcacatccac	8	7	10	16	2	1	1	1	0	0	1	4	1	3	1	4	3	1	2	4	3	0	1	rs541403583	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415737C>T	ENST00000333244.5	-	7	6170	c.6051G>A	c.(6049-6051)aaG>aaA	p.K2017K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2017						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)			CGGCCTCCACCTTGGGTGCAG	0.607													.|||	37	0.00738818	0.0121	0.0072	5008	,	,		16034	0.003		0.001	False		,,,				2504	0.0123					.											0													133	114	120					14																	105415737		1926	4060	5986	SO:0001819	synonymous_variant	113146			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.6051G>A	14.37:g.105415737C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105415737	C	T	105415737	2	4	19	1	0	0	0	0	0	0	0	1	415	680	24	4		4	AHNAK2	14	105415737	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	537	105415737	1933803	98	1455			2	14		9	6	7642	N	T_G_C_A	2.093013e-10
AHNAK2	113146	mdanderson.org	37	chr14	105415748	105415748	+	Missense_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	ggcctccaccttgggtgcagGcacatccaccgaggcctcga	7	6	12	16	2	0	0	0	0	0	0	3	2	2	0	6	4	1	2	6	4	0	1	rs118171013	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:105415748G>A	ENST00000333244.5	-	7	6159	c.6040C>T	c.(6040-6042)Cct>Tct	p.P2014S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2014						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)			TTGGGTGCAGGCACATCCACC	0.597													.|||	1504	0.300319	0.1377	0.3631	5008	,	,		15992	0.0903		0.5447	False		,,,				2504	0.4407					.											0								A	SER/PRO	806,3058		129,548,1255	138	119	125		6040	-7.4	0	14	dbSNP_132	125	4479,3641		1443,1593,1024	no	missense	AHNAK2	NM_138420.2	74	1572,2141,2279	AA,AG,GG		44.8399,20.8592,44.1005	benign	2014/5796	105415748	5285,6699	1932	4060	5992	SO:0001583	missense	113146			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.6040C>T	14.37:g.105415748G>A	ENSP00000353114:p.Pro2014Ser		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	657	0.3008241758241758	79	0.16056910569105692	137	0.3784530386740331	35	0.06118881118881119	406	0.5356200527704486	-	0.114	-1.134216	0.01742	0.208592	0.551601	ENSG00000185567	ENST00000333244	T	0.04015	3.73	3.72	-7.44	0.01379	.	.	.	.	.	T	0.00012	0.0000	N	0.00019	-2.785	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.49818	-0.8899	8	0.06891	T	0.86	-0.9503	1.4552	0.02383	0.2249:0.2846:0.3034:0.1871	.	2014	Q8IVF2	AHNK2_HUMAN	S	2014	ENSP00000353114:P2014S	ENSP00000353114:P2014S	P	-	1	0	AHNAK2	104486793	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.592000	0.00421	-1.485000	0.01854	-2.164000	0.00325	CCT		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105415748	G	A	105415748	3	1	19	1	0	0	0	0	1	0	0	0	415	1203	42	3	11351	3	AHNAK2	14	105415748	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	11	105415748	1933792	99	1456			2	14		9	6	7642	N	T_G_C_A	2.093013e-10
CAPN3	825	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	42684852	42684852	+	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	tacagacaatcattccggttCagtatgagacaagaatggcc	14	9	9	9	1	2	3	2	1	0	3	3	4	3	3	2	2	1	2	2	2	5	4			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:42684852C>A	ENST00000397163.3	+	7	1180	c.961C>A	c.(961-963)Cag>Aag	p.Q321K	CAPN3_ENST00000357568.3_Missense_Mutation_p.Q321K|CAPN3_ENST00000356316.3_Missense_Mutation_p.Q234K|CAPN3_ENST00000349748.3_Missense_Mutation_p.Q273K|CAPN3_ENST00000318023.7_Missense_Mutation_p.Q321K|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	321	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				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)		CATTCCGGTTCAGTATGAGAC	0.547																																						.											0													83	71	75					15																	42684852		2203	4299	6502	SO:0001583	missense	825			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.961C>A	15.37:g.42684852C>A	ENSP00000380349:p.Gln321Lys		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878045	0.51801	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.37	5.37	0.77165	Peptidase C2, calpain, catalytic domain (3);	0.257775	0.33253	U	0.005112	T	0.80042	0.4551	N	0.05351	-0.065	0.80722	D	1	B;B;B;B;B;B	0.23990	0.018;0.095;0.009;0.077;0.095;0.021	B;B;B;B;B;B	0.33121	0.065;0.158;0.038;0.062;0.102;0.103	T	0.76780	-0.2833	10	0.51188	T	0.08	.	18.4966	0.90867	0.0:1.0:0.0:0.0	.	186;234;273;321;321;234	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	K	234;321;321;273;321	ENSP00000348667:Q234K;ENSP00000380349:Q321K;ENSP00000350181:Q321K;ENSP00000183936:Q273K;ENSP00000326281:Q321K	ENSP00000326281:Q321K	Q	+	1	0	CAPN3	40472144	1.000000	0.71417	0.970000	0.41538	0.260000	0.26232	5.608000	0.67654	2.683000	0.91414	0.655000	0.94253	CAG		0.547	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			A	42684852	C	A	42684852	3	1	19	1	0	0	0	0	1	0	0	0	2628	827	29	5	1039	5	CAPN3	15	42684852	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		42684852	59846540	100	1457											
ZFP106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	42742931	42742931	+	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	tcttccacagtgggcttgttCgagggatttgagtgttctcc	5	15	12	9	1	2	1	0	1	2	0	5	3	3	2	2	2	0	3	2	2	0	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:42742931C>T	ENST00000263805.4	-	2	1796	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	490					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGGGCTTGTTCGAGGGATTTG	0.388																																						.											0													229	224	225					15																	42742931		2203	4299	6502	SO:0001819	synonymous_variant	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1470G>A	15.37:g.42742931C>T			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.388	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		T	42742931	C	T	42742931	2	4	19	1	0	0	0	0	0	0	0	1	17634	871	31	1		1	ZFP106	15	42742931	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	58079	42742931	59788461	101	1458											
SLC12A1	6557	broad.mit.edu;mdanderson.org	37	chr15	48518686	48518686	+	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	ctaacaggtcttggagttctCataattcttctttccaccat	9	16	5	11	0	4	0	1	0	4	0	6	1	5	1	2	2	1	1	2	2	2	7			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:48518686C>G	ENST00000558405.1	+	4	656	c.642C>G	c.(640-642)ctC>ctG	p.L214L	SLC12A1_ENST00000380993.3_Silent_p.L214L|SLC12A1_ENST00000396577.3_Intron|SLC12A1_ENST00000330289.6_Silent_p.L214L|SLC12A1_ENST00000559723.1_Intron			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	214					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTGGAGTTCTCATAATTCTTC	0.373																																						.											0													122	118	120					15																	48518686		1854	4097	5951	SO:0001819	synonymous_variant	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.642C>G	15.37:g.48518686C>G			A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	CCDS10129.2																																																																																				0.373	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			G	48518686	C	G	48518686	2	3	19	1	0	0	0	0	0	0	0	1	14382	813	29	5		5	SLC12A1	15	48518686	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	5775755	48518686	54012706	102	1459											
DTWD1	56986	hgsc.bcm.edu	37	chr15	49926993	49926994	+	Splice_Site	INS	-	-	A																															ctgatgagcgacttcaaggtINSaaaaaaaaaatgtttttttg																								rs111446752	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:49926993_49926994insA	ENST00000251250.6	+	5	874		c.e5+2		DTWD1_ENST00000415425.1_Splice_Site|DTWD1_ENST00000403028.3_Splice_Site|DTWD1_ENST00000558653.1_Splice_Site	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1									p.?(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		GACTTCAAGGTAAAAAAAAAAT	0.327																																						.											1	Unknown(1)	ovary(1)																																								SO:0001630	splice_region_variant	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.667+2->A	15.37:g.49927003_49927003dupA			Q567Q3|Q8WVG9|Q9NRU6	Splice_Site	INS	ENST00000251250.6	37	CCDS10132.1																																																																																				0.327	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234	Intron	A	49926994	-	A	49926993	8	5	19	1	0	1	1	0	0	0	1	0	4791	1652	57	0	679	0	DTWD1	15	49926993	Splice_Site	INS	-	TCGA-KL-8341-01A-11D-2310-10	1408307	49926993	52604399	103	1460											
GCOM1	81488	broad.mit.edu;mdanderson.org	37	chr15	58004208	58004208	+	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	ttttcgacaaaatgattcatCtagtcattgccagaagagtg	13	13	8	7	1	3	3	2	1	1	2	4	4	3	3	1	0	1	0	1	0	4	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004208C>G	ENST00000299638.3	+	3	999	c.785C>G	c.(784-786)tCt>tGt	p.S262C	GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Missense_Mutation_p.S105C|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.S444C|POLR2M_ENST00000380563.2_Missense_Mutation_p.S262C|GCOM1_ENST00000587652.1_Missense_Mutation_p.S659C	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	262					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										AATGATTCATCTAGTCATTGC	0.403																																						.											0													67	65	66					15																	58004208		2192	4292	6484	SO:0001583	missense	81488			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"RNA polymerase subunits"	14862	protein-coding gene	gene with protein product		606485	"glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.785C>G	15.37:g.58004208C>G	ENSP00000299638:p.Ser262Cys		Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648457	0.47258	.	.	ENSG00000137878;ENSG00000255529;ENSG00000255529;ENSG00000255529	ENST00000380569;ENST00000380563;ENST00000299638;ENST00000380557	T	0.29917	1.55	4.85	1.81	0.25067	.	0.777046	0.11914	N	0.517340	T	0.41719	0.1171	.	.	.	0.09310	N	1	P;D;P	0.67145	0.955;0.996;0.8	P;P;B	0.56216	0.707;0.794;0.421	T	0.19549	-1.0302	9	0.54805	T	0.06	3.5611	8.7103	0.34380	0.0:0.6569:0.2603:0.0828	.	105;262;444	P0CAP2-2;P0CAP2;P0CAP1-11	.;GRL1A_HUMAN;.	C	444;262;262;105	ENSP00000369943:S444C	ENSP00000369943:S444C	S	+	2	0	GCOM1;GRINL1A	55791500	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.855000	0.27805	0.308000	0.22923	0.655000	0.94253	TCT		0.403	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			G	58004208	C	G	58004208	3	3	19	1	0	0	0	0	1	0	0	0	6304	913	32	5	1482	5	GCOM1	15	58004208	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	8077215	58004208	44527184	104	1461			3	15		3	3	80	C		4.862974e-08
GCOM1	81488	broad.mit.edu;mdanderson.org	37	chr15	58004276	58004276	+	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	ggcgcagggataagcagcatCttgatgacatcacagcagct	12	7	12	10	1	2	2	1	2	1	0	2	3	2	3	0	2	4	5	0	2	1	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004276C>T	ENST00000299638.3	+	3	1067	c.853C>T	c.(853-855)Ctt>Ttt	p.L285F	GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Missense_Mutation_p.L128F|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.L467F|POLR2M_ENST00000380563.2_Missense_Mutation_p.L285F|GCOM1_ENST00000587652.1_Missense_Mutation_p.L682F	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	285					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TAAGCAGCATCTTGATGACAT	0.488																																						.											0													57	56	57					15																	58004276		2192	4292	6484	SO:0001583	missense	81488			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"RNA polymerase subunits"	14862	protein-coding gene	gene with protein product		606485	"glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.853C>T	15.37:g.58004276C>T	ENSP00000299638:p.Leu285Phe		Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822039	0.71028	.	.	ENSG00000137878;ENSG00000255529;ENSG00000255529;ENSG00000255529	ENST00000380569;ENST00000380563;ENST00000299638;ENST00000380557	T	0.29142	1.58	4.76	4.76	0.60689	.	0.886809	0.09915	N	0.739245	T	0.51466	0.1676	.	.	.	0.33828	D	0.629945	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.57447	-0.7810	9	0.59425	D	0.04	-7.978	7.3211	0.26528	0.0:0.8194:0.0:0.1806	.	128;285;467	P0CAP2-2;P0CAP2;P0CAP1-11	.;GRL1A_HUMAN;.	F	467;285;285;128	ENSP00000369943:L467F	ENSP00000369943:L467F	L	+	1	0	GCOM1;GRINL1A	55791568	0.988000	0.35896	0.963000	0.40424	0.984000	0.73092	1.091000	0.30915	2.627000	0.88993	0.591000	0.81541	CTT		0.488	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			T	58004276	C	T	58004276	3	4	19	1	0	0	0	0	1	0	0	0	6304	913	32	4	1550	4	GCOM1	15	58004276	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	68	58004276	44527116	105	1462			3	15		3	3	80	C		4.862974e-08
GCOM1	81488	broad.mit.edu;mdanderson.org	37	chr15	58004287	58004287	+	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	aagcagcatcttgatgacatCacagcagctcggcttctacc	11	9	8	13	1	3	2	1	2	2	0	4	2	3	2	1	1	5	5	1	1	2	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004287C>T	ENST00000299638.3	+	3	1078	c.864C>T	c.(862-864)atC>atT	p.I288I	GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Silent_p.I131I|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Silent_p.I470I|POLR2M_ENST00000380563.2_Silent_p.I288I|GCOM1_ENST00000587652.1_Silent_p.I685I	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	288					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TTGATGACATCACAGCAGCTC	0.483																																						.											0													55	54	55					15																	58004287		2192	4290	6482	SO:0001819	synonymous_variant	81488			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"RNA polymerase subunits"	14862	protein-coding gene	gene with protein product		606485	"glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.864C>T	15.37:g.58004287C>T			Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Silent	SNP	ENST00000299638.3	37	CCDS32252.1																																																																																				0.483	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			T	58004287	C	T	58004287	2	4	19	1	0	0	0	0	0	0	0	1	6304	816	29	4		4	GCOM1	15	58004287	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10	11	58004287	44527105	106	1463			3	15		3	3	80	C		4.862974e-08
FAM81A	145773	mdanderson.org	37	chr15	59808946	59808946	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttgatggtcagagaacaAggcaagaagaggagaagatg	16	7	14	4	0	1	6	1	1	0	5	1	8	1	6	0	3	1	1	0	3	5	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:59808946A>G	ENST00000288228.5	+	8	1076	c.889A>G	c.(889-891)Agg>Ggg	p.R297G		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	297										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TCAGAGAACAAGGCAAGAAGA	0.463																																						.											0													109	105	106					15																	59808946		1957	4149	6106	SO:0001583	missense	145773				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.889A>G	15.37:g.59808946A>G	ENSP00000288228:p.Arg297Gly			Missense_Mutation	SNP	ENST00000288228.5	37	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	A	8.480	0.859642	0.17178	.	.	ENSG00000157470	ENST00000288228	T	0.72942	-0.7	5.65	5.65	0.86999	.	0.157787	0.44902	D	0.000410	T	0.50565	0.1623	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.49072	-0.8977	10	0.87932	D	0	-26.1318	10.2736	0.43497	0.8346:0.1654:0.0:0.0	.	297	Q8TBF8	FA81A_HUMAN	G	297	ENSP00000288228:R297G	ENSP00000288228:R297G	R	+	1	2	FAM81A	57596238	0.988000	0.35896	0.453000	0.27007	0.106000	0.19336	4.474000	0.60203	2.281000	0.76405	0.528000	0.53228	AGG		0.463	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		G	59808946	A	G	59808946	3	3	19	1	0	0	0	0	1	0	0	0	5628	63	3	2	915	2	FAM81A	15	59808946	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	1804659	59808946	42722446	107	1464											
VPS13C	54832	hgsc.bcm.edu	37	chr15	62261606	62261606	+	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	ctgagtaacattaaatactaGaattgtatcttcttctttct	12	18	4	7	0	4	2	0	1	4	1	4	2	4	2	0	0	2	2	0	0	7	9			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:62261606G>A	ENST00000261517.5	-	28	2876	c.2803C>T	c.(2803-2805)Cta>Tta	p.L935L	VPS13C_ENST00000395896.4_Silent_p.L935L|VPS13C_ENST00000395898.3_Silent_p.L892L|VPS13C_ENST00000249837.3_Silent_p.L892L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.L935V(1)		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						TTAAATACTAGAATTGTATCT	0.299																																						.											1	Substitution - Missense(1)	ovary(1)											63	60	61					15																	62261606		2195	4281	6476	SO:0001819	synonymous_variant	54832			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.2803C>T	15.37:g.62261606G>A				Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62261606	G	A	62261606	2	1	19	1	0	0	0	0	0	0	0	1	17188	933	33	4		4	VPS13C	15	62261606	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	2452660	62261606	40269786	108	1465											
HERC1	8925	mdanderson.org	37	chr15	64010819	64010819	+	Missense_Mutation	SNP	T	T	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	tttgaataagttcaaggttcTtgcaagcaagtaaacgactt	14	13	8	6	1	2	1	1	1	1	0	2	2	2	1	0	1	3	5	0	1	7	7			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:64010819T>C	ENST00000443617.2	-	21	4019	c.3932A>G	c.(3931-3933)aAg>aGg	p.K1311R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1311					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						TTCAAGGTTCTTGCAAGCAAG	0.358																																						.											0													86	75	78					15																	64010819		1847	4098	5945	SO:0001583	missense	8925			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.3932A>G	15.37:g.64010819T>C	ENSP00000390158:p.Lys1311Arg		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019604	0.75275	.	.	ENSG00000103657	ENST00000443617	T	0.03580	3.88	5.5	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.04815	0.0130	L	0.50333	1.59	0.45452	D	0.998429	B	0.06786	0.001	B	0.04013	0.001	T	0.27331	-1.0077	10	0.59425	D	0.04	.	8.5418	0.33397	0.0:0.069:0.131:0.8	.	1311	Q15751	HERC1_HUMAN	R	1311	ENSP00000390158:K1311R	ENSP00000390158:K1311R	K	-	2	0	HERC1	61797872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.962000	0.63687	0.899000	0.36444	0.533000	0.62120	AAG		0.358	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		C	64010819	T	C	64010819	3	2	19	1	0	0	0	0	1	0	0	0	7057	1609	56	2	10885	2	HERC1	15	64010819	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	1749213	64010819	38520573	109	1466											
SNX1	6642	broad.mit.edu	37	chr15	64426911	64426912	+	Frame_Shift_Ins	INS	-	-	A																															gcagcgctggcaggatgcccINSaagccacactgcagaagaag																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:64426911_64426912insA	ENST00000559844.1	+	12	1284_1285	c.1270_1271insA	c.(1270-1272)caafs	p.Q424fs	SNX1_ENST00000560829.1_Frame_Shift_Ins_p.Q206fs|SNX1_ENST00000561026.1_Frame_Shift_Ins_p.Q359fs|SNX1_ENST00000261889.5_Frame_Shift_Ins_p.Q424fs|SNX1_ENST00000353874.4_Intron			Q13596	SNX1_HUMAN	sorting nexin 1	424	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGGATGCCCAAGCCACACTG	0.619																																						.											0																																										SO:0001589	frameshift_variant	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1272dupA	15.37:g.64426913_64426913dupA	ENSP00000453785:p.Gln424fs		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Frame_Shift_Ins	INS	ENST00000559844.1	37	CCDS32266.1																																																																																				0.619	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		A	64426912	-	A	64426911	7	5	19	1	0	1	1	0	0	0	0	0	14880	595	21	0	1316	0	SNX1	15	64426911	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	416092	64426911	38104481	110	1467											
C15orf58	390637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	90784689	90784689	+	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	ctcccccagcgcctgctgccGggtgcactgagggcagggat	5	6	15	15	2	0	1	0	1	0	0	1	2	1	2	4	3	4	3	4	3	0	0	rs373465372		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:90784689G>A	ENST00000558017.1	+	4	969	c.549G>A	c.(547-549)ccG>ccA	p.P183P	GDPGP1_ENST00000329600.6_Silent_p.P183P	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	183					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										GCCTGCTGCCGGGTGCACTGA	0.662																																						.											0													39	43	42					15																	90784689		2199	4298	6497	SO:0001819	synonymous_variant	390637				CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 58"	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.549G>A	15.37:g.90784689G>A				Silent	SNP	ENST00000558017.1	37	CCDS32327.1																																																																																				0.662	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		A	90784689	G	A	90784689	2	1	19	1	0	0	0	0	0	0	0	1	1806	1103	39	1		1	C15orf58	15	90784689	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	26357778	90784689	11746703	111	1468											
FAM174B	400451	broad.mit.edu	37	chr15	93173567	93173567	+	Missense_Mutation	SNP	T	T	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	tgcgtgtcttctttaacctcTttcccgacctgcaggagaag	7	13	9	12	2	3	1	0	0	3	1	4	3	4	1	3	1	3	1	3	1	2	4			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:93173567T>C	ENST00000327355.5	-	2	651	c.353A>G	c.(352-354)aAg>aGg	p.K118R	FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	118						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						CTTTAACCTCTTTCCCGACCT	0.512																																						.											0													96	87	90					15																	93173567		2023	4188	6211	SO:0001583	missense	400451				CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.353A>G	15.37:g.93173567T>C	ENSP00000329040:p.Lys118Arg		Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	T	7.910	0.736234	0.15574	.	.	ENSG00000185442	ENST00000327355	T	0.38887	1.11	5.38	1.87	0.25490	.	0.063055	0.64402	D	0.000009	T	0.29588	0.0738	L	0.37630	1.12	0.80722	D	1	B	0.24426	0.103	B	0.23574	0.047	T	0.05007	-1.0912	10	0.36615	T	0.2	-15.2595	8.1803	0.31307	0.0:0.327:0.0:0.673	.	118	Q3ZCQ3	F174B_HUMAN	R	118	ENSP00000329040:K118R	ENSP00000329040:K118R	K	-	2	0	FAM174B	90974571	1.000000	0.71417	0.104000	0.21259	0.211000	0.24417	1.253000	0.32886	0.075000	0.16796	0.482000	0.46254	AAG		0.512	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		C	93173567	T	C	93173567	3	2	19	1	0	0	0	0	1	0	0	0	5496	1609	56	2	134	2	FAM174B	15	93173567	Missense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10	2388878	93173567	9357825	112	1469											
PDIA2	64714	mdanderson.org	37	chr16	334732	334732	+	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	agtgccatgcggctggaggaCgaggcggccgcccaggcgct	6	4	18	13	5	0	0	0	0	0	0	0	3	0	2	3	6	2	2	3	6	0	0	rs45593734	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:334732C>T	ENST00000219406.6	+	3	498	c.480C>T	c.(478-480)gaC>gaT	p.D160D	PDIA2_ENST00000404312.1_Silent_p.D160D	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	160					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCTGGAGGACGAGGCGGCCG	0.716													c|||	640	0.127796	0.0862	0.0994	5008	,	,		12306	0.0962		0.16	False		,,,				2504	0.2035					.											0								C		328,3770		14,300,1735	8	14	12		480	-3.5	0.3	16	dbSNP_127	12	1280,6964		99,1082,2941	no	coding-synonymous	PDIA2	NM_006849.2		113,1382,4676	TT,TC,CC		15.5264,8.0039,13.0287		160/526	334732	1608,10734	2049	4122	6171	SO:0001819	synonymous_variant	64714			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.480C>T	16.37:g.334732C>T			A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	CCDS42089.1	245	0.11217948717948718	33	0.06707317073170732	40	0.11049723756906077	54	0.0944055944055944	118	0.15567282321899736	c	0.097	-1.157292	0.01686	0.080039	0.155264	ENSG00000185615	ENST00000456379	.	.	.	3.75	-3.55	0.04639	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.44485	P	0.00257099999999999	.	.	.	.	.	.	T	0.21008	-1.0258	3	.	.	.	.	3.4234	0.07401	0.1195:0.1343:0.119:0.6272	rs45593734;rs62032217	.	.	.	M	157	.	.	T	+	2	0	PDIA2	274733	0.000000	0.05858	0.349000	0.25694	0.141000	0.21300	-2.516000	0.00954	-0.782000	0.04541	0.457000	0.33378	ACG		0.716	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		T	334732	C	T	334732	2	4	19	1	0	0	0	0	0	0	0	1	11668	535	19	1		1	PDIA2	16	334732	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10		334732	90020021	113	1470											
C16orf11	146325	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr16	613379	613379	+	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	agaagccacactacatcccgCggccctggggcaaaccctac	11	4	9	17	2	0	1	0	0	0	1	1	1	1	1	4	3	4	1	4	3	4	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:613379C>T	ENST00000409413.3	+	2	364	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		29										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTACATCCCGCGGCCCTGGGG	0.617																																						.											0													80	90	87					16																	613379		2043	4173	6216	SO:0001583	missense	146325																														ENST00000409413.3:c.85C>T	16.37:g.613379C>T	ENSP00000386499:p.Arg29Trp		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988919	0.74589	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.97	2.74	0.32292	.	0.000000	0.45361	D	0.000380	T	0.69584	0.3127	M	0.71581	2.175	0.31577	N	0.655637	D	0.89917	1.0	D	0.97110	1.0	T	0.75758	-0.3205	9	0.87932	D	0	.	13.8683	0.63603	0.3286:0.6714:0.0:0.0	.	29	P0CG20	CP011_HUMAN	W	29	.	ENSP00000386499:R29W	R	+	1	2	C16orf11	553380	0.016000	0.18221	0.926000	0.36857	0.996000	0.88848	0.287000	0.18920	1.064000	0.40671	0.563000	0.77884	CGG		0.617	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			T	613379	C	T	613379	3	4	19	1	0	0	0	0	1	0	0	0	1810	759	27	1	87	1	C16orf11	16	613379	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	278647	613379	89741374	114	1471											
TSC2	7249	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr16	2113034	2113034	+	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	tgctgtcctttgtgctgctcAtcaacaggcagttctatgag	7	14	10	10	0	3	1	2	1	1	0	4	1	4	1	1	1	4	5	1	1	2	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:2113034A>T	ENST00000219476.3	+	14	2053	c.1423A>T	c.(1423-1425)Atc>Ttc	p.I475F	TSC2_ENST00000353929.4_Missense_Mutation_p.I475F|TSC2_ENST00000350773.4_Missense_Mutation_p.I475F|TSC2_ENST00000401874.2_Missense_Mutation_p.I475F|TSC2_ENST00000568454.1_Missense_Mutation_p.I486F|TSC2_ENST00000439673.2_Missense_Mutation_p.I438F|TSC2_ENST00000382538.6_Missense_Mutation_p.I426F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	475					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)				TGTGCTGCTCATCAACAGGCA	0.672			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													78	60	66					16																	2113034		1992	3831	5823	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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.1423A>T	16.37:g.2113034A>T	ENSP00000219476:p.Ile475Phe		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	27.0	4.794086	0.90453	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.24	5.24	0.73138	Armadillo-type fold (1);	0.108239	0.64402	D	0.000007	T	0.73869	0.3642	L	0.47716	1.5	0.51482	D	0.999929	D;D;D;D;D;D	0.69078	0.962;0.994;0.98;0.997;0.997;0.978	P;D;P;D;D;D	0.70227	0.756;0.947;0.759;0.947;0.968;0.942	T	0.74711	-0.3573	10	0.51188	T	0.08	-28.4526	10.37	0.44049	0.923:0.0:0.077:0.0	.	426;438;475;475;475;475	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	F	475;475;475;438;426;475	ENSP00000219476:I475F;ENSP00000384468:I475F;ENSP00000248099:I475F;ENSP00000399232:I438F;ENSP00000371978:I426F;ENSP00000344383:I475F	ENSP00000219476:I475F	I	+	1	0	TSC2	2053035	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.752000	0.74898	1.973000	0.57446	0.533000	0.62120	ATC		0.672	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2113034	A	T	2113034	3	4	19	1	0	0	0	0	1	0	0	0	16603	217	8	5	1473	5	TSC2	16	2113034	Missense_Mutation	SNP	A	TCGA-KL-8341-01A-11D-2310-10	1499655	2113034	88241719	115	1472											
ABCC6	368	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	16251599	16251599	+	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	ggtatcttagcccaaagtccCggaactcgatctgcccgccc	8	8	9	16	3	2	0	0	0	2	0	4	2	3	1	4	2	3	1	4	2	4	2	rs2238472	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:16251599C>T	ENST00000205557.7	-	27	3832	c.3803G>A	c.(3802-3804)cGg>cAg	p.R1268Q		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1268	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q (associated with lower plasma triglycerides and higher plasma HDL cholesterol; dbSNP:rs2238472). {ECO:0000269|PubMed:10811882, ECO:0000269|PubMed:10913334, ECO:0000269|PubMed:11536079, ECO:0000269|PubMed:11776382, ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:18987736}.		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)	CCCAAAGTCCCGGAACTCGAT	0.622													C|||	908	0.18131	0.0673	0.2983	5008	,	,		18599	0.125		0.3012	False		,,,				2504	0.1871					.											0			GRCh37	CM001044	ABCC6	M	rs2238472	C	GLN/ARG	473,3921	222.6+/-239.4	29,415,1753	52	45	48	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3803	2	0.6	16	dbSNP_98	48	2437,6163	401.1+/-347.0	345,1747,2208	yes	missense	ABCC6	NM_001171.5	43	374,2162,3961	TT,TC,CC		28.3372,10.7647,22.395	benign	1268/1504	16251599	2910,10084	2197	4300	6497	SO:0001583	missense	368			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.3803G>A	16.37:g.16251599C>T	ENSP00000205557:p.Arg1268Gln		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	423	0.1936813186813187	41	0.08333333333333333	90	0.24861878453038674	68	0.11888111888111888	224	0.2955145118733509	c	11.76	1.734060	0.30684	0.107647	0.283372	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90563	-2.69	5.09	2.01	0.26516	ABC transporter-like (1);	0.165125	0.27654	N	0.018411	T	0.00012	0.0000	N	0.17901	0.54	0.09310	P	0.9999999999913843	B	0.24576	0.106	B	0.12156	0.007	T	0.02639	-1.1130	9	0.25106	T	0.35	.	10.2379	0.43294	0.0:0.7787:0.0:0.2213	rs2238472;rs17289934;rs52824827;rs60072648;rs2238472	1268	O95255	MRP6_HUMAN	Q	1268;206	ENSP00000205557:R1268Q	ENSP00000205557:R1268Q	R	-	2	0	ABCC6	16159100	0.000000	0.05858	0.612000	0.29024	0.951000	0.60555	-0.326000	0.07965	0.191000	0.20236	0.530000	0.56133	CGG		0.622	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16251599	C	T	16251599	3	4	19	1	0	0	0	0	1	0	0	0	57	652	23	1	728	1	ABCC6	16	16251599	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	14138565	16251599	74103154	116	1473											
ARHGAP17	55114	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	24950855	24950855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaaagcgggggatatGtgctttctatttagagtgcc	8	12	15	6	1	1	1	0	0	1	1	1	3	1	3	1	4	3	2	1	4	4	5			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:24950855G>T	ENST00000289968.6	-	17	1623	c.1554C>A	c.(1552-1554)caC>caA	p.H518Q	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	518					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)		CGGGGGATATGTGCTTTCTAT	0.592																																						.											0													26	27	27					16																	24950855		2195	4298	6493	SO:0001583	missense	55114			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.1554C>A	16.37:g.24950855G>T	ENSP00000289968:p.His518Gln		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652483	0.29336	.	.	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.20463	2.07	5.0	2.99	0.34606	.	0.000000	0.46758	D	0.000262	T	0.35480	0.0933	M	0.63428	1.95	0.80722	D	1	B;D	0.89917	0.296;1.0	B;D	0.87578	0.046;0.998	T	0.11867	-1.0570	10	0.21014	T	0.42	.	7.2856	0.26337	0.2681:0.0:0.7319:0.0	.	518;51	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	Q	518	ENSP00000289968:H518Q	ENSP00000289968:H518Q	H	-	3	2	ARHGAP17	24858356	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	4.165000	0.58196	1.334000	0.45468	-0.150000	0.13652	CAC		0.592	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		T	24950855	G	T	24950855	3	4	19	1	0	0	0	0	1	0	0	0	867	1368	48	5	1107	5	ARHGAP17	16	24950855	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	8699256	24950855	65403898	117	1474											
SLC7A6	9057	broad.mit.edu;mdanderson.org	37	chr16	68325151	68325151	+	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	gggatttctatgccaattgtGacgctcatctacatcctgac	9	13	8	11	1	3	2	1	2	2	0	4	3	4	3	2	1	2	1	2	1	3	4			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:68325151G>A	ENST00000566454.1	+	7	1103	c.834G>A	c.(832-834)gtG>gtA	p.V278V	SLC7A6_ENST00000219343.6_Silent_p.V278V	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGCCAATTGTGACGCTCATCT	0.458																																						.											0													279	232	248					16																	68325151		2198	4300	6498	SO:0001819	synonymous_variant	9057			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"Solute carriers"	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.834G>A	16.37:g.68325151G>A				Silent	SNP	ENST00000566454.1	37	CCDS32470.1																																																																																				0.458	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		A	68325151	G	A	68325151	2	1	19	1	0	0	0	0	0	0	0	1	14701	1277	45	4		4	SLC7A6	16	68325151	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	43374296	68325151	22029602	118	1475											
CLEC18C	283971	mdanderson.org	37	chr16	70211266	70211266	+	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	ggctggaacatgcagctgctGcccgcgggcttggcgtcctt	4	9	15	13	3	0	0	0	0	0	0	1	1	1	1	2	4	5	5	2	4	1	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:70211266G>A	ENST00000569347.2	+	3	593	c.339G>A	c.(337-339)ctG>ctA	p.L113L	CLEC18C_ENST00000314151.8_Silent_p.L113L|CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000536907.2_Silent_p.L113L|CLEC18C_ENST00000541793.2_Silent_p.L113L	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	113	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						TGCAGCTGCTGCCCGCGGGCT	0.652																																						.											0													43	51	49					16																	70211266		2196	4298	6494	SO:0001819	synonymous_variant	283971			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.339G>A	16.37:g.70211266G>A			Q8IUW8	Silent	SNP	ENST00000569347.2	37	CCDS32473.1	.	.	.	.	.	.	.	.	.	.	g	1.109	-0.658906	0.03454	.	.	ENSG00000157335	ENST00000539438	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15235	-1.0444	5	0.02654	T	1	.	12.6961	0.57005	0.0:0.0:1.0:0.0	.	.	.	.	Y	110	.	ENSP00000445424:C110Y	C	+	2	0	CLEC18C	68768767	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	0.640000	0.24705	2.125000	0.65367	0.298000	0.19748	TGC		0.652	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434588.2	NM_173619		A	70211266	G	A	70211266	2	1	19	1	0	0	0	0	0	0	0	1	3504	1306	46	4		4	CLEC18C	16	70211266	Silent	SNP	G	TCGA-KL-8341-01A-11D-2310-10	1886115	70211266	20143487	119	1476											
PKD1L2	114780	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	81242140	81242140	+	RNA	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	acaggtaactgccctgagtcGgacacaggtttccaaagtag	12	8	11	10	1	0	1	0	1	0	0	2	2	1	2	2	3	2	3	2	3	3	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:81242140G>A	ENST00000525539.1	-	0	715				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCCTGAGTCGGACACAGGTT	0.562																																						.											0													87	85	85					16																	81242140		2126	4222	6348			114780			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.81242140G>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.257915	0.80246	.	.	ENSG00000166473	ENST00000337114	T	0.18810	2.19	4.29	4.29	0.51040	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.071096	0.56097	D	0.000024	T	0.48295	0.1492	.	.	.	0.43857	D	0.996451	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.56655	-0.7943	9	0.87932	D	0	-19.3424	16.3594	0.83251	0.0:0.0:1.0:0.0	.	239;239	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	L	239	ENSP00000337397:P239L	ENSP00000337397:P239L	P	-	2	0	PKD1L2	79799641	1.000000	0.71417	0.880000	0.34516	0.915000	0.54546	7.373000	0.79623	1.940000	0.56252	0.462000	0.41574	CCG		0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81242140	G	A	81242140	1	1	19	0	1	0	0	0	0	0	0	0	11965	1116	39	1		1	PKD1L2	16	81242140	RNA	SNP	G	TCGA-KL-8341-01A-11D-2310-10	11030874	81242140	9112613	120	1477											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7577064	7577064	+	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	ctcgtggtgaggctccccttTcttgcggagattctcttcct	3	15	10	13	2	2	2	0	1	2	1	6	3	4	2	3	3	1	1	3	3	0	4			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:7577064T>A	ENST00000269305.4	-	8	1063	c.874A>T	c.(874-876)Aaa>Taa	p.K292*	TP53_ENST00000445888.2_Nonsense_Mutation_p.K292*|TP53_ENST00000420246.2_Nonsense_Mutation_p.K292*|TP53_ENST00000455263.2_Nonsense_Mutation_p.K292*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.K292*|TP53_ENST00000413465.2_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	292	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation). {ECO:0000269|PubMed:10484981}.|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K291fs*48(8)|p.0?(8)|p.?(2)|p.E294fs*51(2)|p.K292E(2)|p.K292*(2)|p.K292fs*13(1)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291fs*12(1)|p.R290_P295>X(1)|p.E285fs*13(1)|p.V272_K292del21(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)	GGCTCCCCTTTCTTGCGGAGA	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	33	Deletion - Frameshift(15)|Whole gene deletion(8)|Deletion - In frame(3)|Substitution - Nonsense(2)|Unknown(2)|Substitution - Missense(2)|Complex - deletion inframe(1)	upper_aerodigestive_tract(12)|urinary_tract(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|central_nervous_system(2)|breast(2)|salivary_gland(1)|large_intestine(1)|endometrium(1)|oesophagus(1)											104	89	94					17																	7577064		2203	4300	6503	SO:0001587	stop_gained	7157	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;	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.874A>T	17.37:g.7577064T>A	ENSP00000269305:p.Lys292*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.521424	0.85600	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.12	4.03	0.46877	.	0.183996	0.46145	D	0.000309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.716	5.2408	0.15471	0.0:0.0898:0.182:0.7282	.	.	.	.	X	292;292;292;292;292;281;160	.	ENSP00000269305:K292X	K	-	1	0	TP53	7517789	0.998000	0.40836	0.909000	0.35828	0.257000	0.26127	1.203000	0.32284	0.944000	0.37579	0.459000	0.35465	AAA		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577064	T	A	7577064	4	1	19	1	0	0	0	0	0	1	0	0	16378	1792	62	5	412	5	TP53	17	7577064	Nonsense_Mutation	SNP	T	TCGA-KL-8341-01A-11D-2310-10		7577064	73618146	121	1478											
CCDC144B	284047	broad.mit.edu	37	chr17	18498496	18498497	+	RNA	INS	-	-	A																															gctgttttatctgcaggcctINSgaaaaaaaaaaacaattcct																								rs397961350|rs59933375	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:18498496_18498497insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TCTGCAGGCCTGAAAAAAAAAA	0.243																																						.											0																																												284047			AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"coiled-coil domain containing 144B"			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498496_18498497insA			Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																					0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		A	18498497	-	A	18498496	6	5	19	0	1	1	1	0	0	0	0	0	2778	1594	55	0		0	CCDC144B	17	18498496	RNA	INS	-	TCGA-KL-8341-01A-11D-2310-10	10921432	18498496	62696714	122	1479											
KCNH4	23415	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	40321548	40321548	+	Missense_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	cgtggtctggaagtattcgaGcatgcgctgcttgagcggcc	6	10	15	10	4	1	1	0	1	1	0	2	3	1	2	1	3	4	4	1	3	2	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:40321548G>A	ENST00000264661.3	-	9	1869	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F	KCNH4_ENST00000607371.1_Missense_Mutation_p.L513F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	513					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)		AAGTATTCGAGCATGCGCTGC	0.647																																					NSCLC(117;707 1703 2300 21308 31858)	.											0													79	72	74					17																	40321548		2203	4300	6503	SO:0001583	missense	23415			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.1537C>T	17.37:g.40321548G>A	ENSP00000264661:p.Leu513Phe			Missense_Mutation	SNP	ENST00000264661.3	37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675197	0.88445	.	.	ENSG00000089558	ENST00000264661	D	0.96967	-4.19	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.34291	N	0.004085	D	0.97309	0.9120	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	P	0.61477	0.889	D	0.96990	0.9721	10	0.39692	T	0.17	.	16.6694	0.85261	0.0:0.0:1.0:0.0	.	513	Q9UQ05	KCNH4_HUMAN	F	513	ENSP00000264661:L513F	ENSP00000264661:L513F	L	-	1	0	KCNH4	37575074	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.426000	0.73374	2.148000	0.66965	0.462000	0.41574	CTC		0.647	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		A	40321548	G	A	40321548	3	1	19	1	0	0	0	0	1	0	0	0	8034	971	34	4	1548	4	KCNH4	17	40321548	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	21823052	40321548	40873662	123	1480											
PDK2	5164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	48184157	48184157	+	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	0	0	0	0	0	0	0	0	0	0	0	atcctcccttcctgcctgcaGccctcatctttgatggcagc	5	12	7	17	0	2	1	1	1	1	0	5	1	5	1	5	1	4	2	5	1	0	2			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:48184157G>C	ENST00000503176.1	+	5	678		c.e5-1		PDK2_ENST00000007708.3_Splice_Site	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2						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						CCTGCCTGCAGCCCTCATCTT	0.582									Autosomal Dominant Polycystic Kidney Disease																													.											0													132	96	108					17																	48184157		2203	4300	6503	SO:0001630	splice_region_variant	5164	Familial Cancer Database	ADPKD	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.518-1G>C	17.37:g.48184157G>C			A8K3A7|B3KNW0|Q6P515|Q9BS05	Splice_Site	SNP	ENST00000503176.1	37	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141080	0.56936	.	.	ENSG00000005882	ENST00000007708;ENST00000508030;ENST00000503176;ENST00000503614;ENST00000505440;ENST00000510219	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7108	0.85385	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDK2	45539156	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	9.601000	0.98297	2.475000	0.83589	0.455000	0.32223	.		0.582	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611	Intron	C	48184157	G	C	48184157	5	2	19	1	0	0	0	0	0	0	1	0	11676	985	34	5	535	5	PDK2	17	48184157	Splice_Site	SNP	G	TCGA-KL-8341-01A-11D-2310-10	7862609	48184157	33011053	124	1481											
MYO5B	4645	mdanderson.org	37	chr18	47364066	47364067	+	Missense_Mutation	DNP	GC	GC	AT																															tggcggatgatagcttccagGcagtatgagttatccccatc																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr18:47364066_47364067GC>AT	ENST00000285039.7	-	37	5257_5258	c.4958_4959GC>AT	c.(4957-4959)tGC>tAT	p.C1653Y	RP11-886H22.1_ENST00000590532.2_5'Flank|MYO5B_ENST00000592688.1_Missense_Mutation_p.C223Y|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.C768Y	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1653	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				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)		TAGCTTCCAGGCAGTATGAGTT	0.52																																						.											0																																										SO:0001583	missense	4645			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.4958_4959delinsAT	18.37:g.47364066_47364067delinsAT	ENSP00000285039:p.Cys1653Tyr		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	DNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.52	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			AT	47364067	GC	AT	47364066	3	1	19	1	0	0	0	0	1	0	0	0	10079	1195	42	3	603	3	MYO5B	18	47364066	Missense_Mutation	DNP	GC	TCGA-KL-8341-01A-11D-2310-10		47364066	30713182	125	1482											
LDLR	3949	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	11210912	11210912	+	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	ctctcagtgggcgacagatgCgaaagaaacgagttccagtg	12	7	13	9	3	1	2	1	0	1	2	3	5	2	2	1	1	2	1	1	1	2	1	rs2228671	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr19:11210912C>A	ENST00000558518.1	+	2	268	c.81C>A	c.(79-81)tgC>tgA	p.C27*	LDLR_ENST00000535915.1_Nonsense_Mutation_p.C27*|LDLR_ENST00000557933.1_Nonsense_Mutation_p.C27*|LDLR_ENST00000558013.1_Nonsense_Mutation_p.C27*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.C27*|LDLR_ENST00000455727.2_Nonsense_Mutation_p.C27*	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	27	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.		C -> W (in San Francisco).		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)	GCGACAGATGCGAAAGAAACG	0.522																																					GBM(18;201 575 7820 21545)	.											1	Unknown(1)	lung(1)	GRCh37	CM045064	LDLR	M	rs2228671						129	111	117					19																	11210912		2203	4300	6503	SO:0001587	stop_gained	3949			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.81C>A	19.37:g.11210912C>A	ENSP00000454071:p.Cys27*		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Nonsense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725318	0.68959	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	.	.	.	5.51	-1.69	0.08186	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7256	0.57168	0.0:0.4551:0.0:0.5449	.	.	.	.	X	27	.	ENSP00000252444:C27X	C	+	3	2	LDLR	11071912	0.022000	0.18835	0.000000	0.03702	0.375000	0.29983	0.018000	0.13422	-1.248000	0.02503	-0.352000	0.07741	TGC		0.522	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			A	11210912	C	A	11210912	4	1	19	1	0	0	0	0	0	1	0	0	8704	776	27	5	87	5	LDLR	19	11210912	Nonsense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10		11210912	47918071	126	1483											
LILRA1	11024	mdanderson.org	37	chr19	55107397	55107397	+	Missense_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	accccctggacatcctgatcGcaggtgaggagcccagcggg	8	5	14	14	2	0	2	0	2	0	0	2	4	1	4	4	4	2	1	4	4	0	0	rs149029653	byFrequency	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr19:55107397G>A	ENST00000251372.3	+	6	1137	c.955G>A	c.(955-957)Gca>Aca	p.A319T	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	319					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CATCCTGATCGCAGGTGAGGA	0.682													a|||	17	0.00339457	0.0106	0	5008	,	,		14307	0.001		0.001	False		,,,				2504	0.001					.											0													19	28	25					19																	55107397		2190	4285	6475	SO:0001583	missense	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.955G>A	19.37:g.55107397G>A	ENSP00000251372:p.Ala319Thr		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.690489	0.00738	.	.	ENSG00000104974	ENST00000251372	T	0.00637	6.05	1.73	-3.45	0.04781	Immunoglobulin subtype (1);	0.886112	0.09212	N	0.833168	T	0.00356	0.0011	N	0.02391	-0.57	0.09310	N	1	B	0.26081	0.141	B	0.24848	0.056	T	0.42749	-0.9433	10	0.14656	T	0.56	.	8.3553	0.32327	0.7419:0.0:0.2581:0.0	.	319	O75019	LIRA1_HUMAN	T	319	ENSP00000251372:A319T	ENSP00000251372:A319T	A	+	1	0	LILRA1	59799209	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.248000	0.00138	-1.641000	0.01523	-1.031000	0.02408	GCA		0.682	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		A	55107397	G	A	55107397	3	1	19	1	0	0	0	0	1	0	0	0	8784	1087	38	1	973	1	LILRA1	19	55107397	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	43896485	55107397	4021586	127	1484											
CABIN1	23523	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr22	24472140	24472140	+	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	atgtcagagacgcccatgctCccatcctccctcatgctgct	7	10	7	17	1	2	1	2	0	0	1	5	2	5	1	4	0	3	3	4	0	0	0			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:24472140C>T	ENST00000398319.2	+	19	3040	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	CABIN1_ENST00000405822.2_Silent_p.L835L|CABIN1_ENST00000263119.5_Silent_p.L885L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	885					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						CGCCCATGCTCCCATCCTCCC	0.582																																						.											0													111	85	94					22																	24472140		2203	4300	6503	SO:0001819	synonymous_variant	23523			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.2655C>T	22.37:g.24472140C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		T	24472140	C	T	24472140	2	4	19	1	0	0	0	0	0	0	0	1	2528	842	30	3		3	CABIN1	22	24472140	Silent	SNP	C	TCGA-KL-8341-01A-11D-2310-10		24472140	26832426	128	1485											
SYN3	8224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	33327400	33327400	+	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	cactttggtcccatttctcaCgacctgcatgtccaccatgc	7	12	6	16	1	1	0	1	0	1	0	4	1	3	0	4	1	2	1	4	1	0	2	rs200324473		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:33327400C>T	ENST00000358763.2	-	4	678	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	SYN3_ENST00000332840.5_Missense_Mutation_p.V146M	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	146	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)	p.V146M(1)		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						CCATTTCTCACGACCTGCATG	0.478																																						.											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	117	108	111		436,436,436	0.7	0.3	22		111	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	SYN3	NM_133633.2,NM_003490.3,NM_001135774.1	21,21,21	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign	146/445,146/581,146/580	33327400	3,13003	2203	4300	6503	SO:0001583	missense	8224			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.436G>A	22.37:g.33327400C>T	ENSP00000351614:p.Val146Met		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527933	0.27299	0.0	3.49E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.31247	1.5;1.5	5.42	0.732	0.18283	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.377447	0.25968	N	0.027143	T	0.08935	0.0221	N	0.00972	-1.085	0.27204	N	0.96008	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.29488	-1.0010	10	0.27082	T	0.32	.	8.2266	0.31572	0.0:0.2797:0.0:0.7203	.	146;146;146	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	M	146	ENSP00000351614:V146M;ENSP00000330219:V146M	ENSP00000330219:V146M	V	-	1	0	SYN3	31657400	0.022000	0.18835	0.263000	0.24496	0.725000	0.41563	-0.617000	0.05584	0.012000	0.14892	0.563000	0.77884	GTG		0.478	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			T	33327400	C	T	33327400	3	4	19	1	0	0	0	0	1	0	0	0	15439	536	19	1	1350	1	SYN3	22	33327400	Missense_Mutation	SNP	C	TCGA-KL-8341-01A-11D-2310-10	8855260	33327400	17977166	129	1486											
MAPK11	5600	broad.mit.edu	37	chr22	50703803	50703804	+	Frame_Shift_Ins	INS	-	-	C																															aacgctctcatcatatggctINScggcctctggctcatcctcg																										TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:50703803_50703804insC	ENST00000330651.6	-	11	1061_1062	c.961_962insG	c.(961-963)gagfs	p.E321fs	MAPK11_ENST00000495277.1_5'Flank	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	321					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)	ATCATATGGCTCGGCCTCTGGC	0.653																																					GBM(9;634 739 50668)	.											0																																										SO:0001589	frameshift_variant	5600			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.962dupG	22.37:g.50703804_50703804dupC	ENSP00000333685:p.Glu321fs		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Frame_Shift_Ins	INS	ENST00000330651.6	37	CCDS14090.1																																																																																				0.653	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			C	50703804	-	C	50703803	7	5	19	1	0	1	1	0	0	0	0	0	9273	1551	54	0	140	0	MAPK11	22	50703803	Frame_Shift_Ins	INS	-	TCGA-KL-8341-01A-11D-2310-10	17376403	50703803	600763	130	1487											
TAF9B	51616	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	77395087	77395087	+	Missense_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	tctcggagcgttcttgggagGcgccatcttgcccgactcca	5	10	12	14	4	3	0	0	0	3	0	5	3	4	2	3	3	2	1	3	3	0	3			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrX:77395087G>A	ENST00000341864.5	-	1	116	c.22C>T	c.(22-24)Cct>Tct	p.P8S		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	8					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						TTCTTGGGAGGCGCCATCTTG	0.652																																						.											0													116	98	104					X																	77395087		2203	4296	6499	SO:0001583	missense	51616			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.22C>T	X.37:g.77395087G>A	ENSP00000339917:p.Pro8Ser		B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	ENST00000341864.5	37	CCDS35340.1	.	.	.	.	.	.	.	.	.	.	G	3.298	-0.143546	0.06627	.	.	ENSG00000187325	ENST00000341864	T	0.38887	1.11	3.73	0.925	0.19424	.	0.440006	0.26163	N	0.025965	T	0.08891	0.0220	N	0.00707	-1.245	0.25701	N	0.985586	B	0.02656	0.0	B	0.08055	0.003	T	0.24190	-1.0167	10	0.07325	T	0.83	0.0098	1.6832	0.02836	0.1171:0.3115:0.3267:0.2448	.	8	Q9HBM6	TAF9B_HUMAN	S	8	ENSP00000339917:P8S	ENSP00000339917:P8S	P	-	1	0	TAF9B	77281743	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	1.743000	0.38258	0.060000	0.16281	0.600000	0.82982	CCT		0.652	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		A	77395087	G	A	77395087	3	1	19	1	0	0	0	0	1	0	0	0	15533	1203	42	3	761	3	TAF9B	23	77395087	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10		77395087	77875473	131	1488											
MAGEC1	9947	mdanderson.org	37	chrX	140994320	140994320	+	Missense_Mutation	SNP	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	gtctcctctccagattcctgGgagcccctccttctcctcca	4	12	6	19	0	3	1	0	0	3	1	9	2	6	2	8	1	1	0	8	1	0	2	rs7063168		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrX:140994320G>T	ENST00000285879.4	+	4	1416	c.1130G>T	c.(1129-1131)gGg>gTg	p.G377V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	377										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)					CAGATTCCTGGGAGCCCCTCC	0.478										HNSCC(15;0.026)			-|||	115	0.0304636	0.0552	0.0173	3775	,	,		13319	0.0079		0.0159	False		,,,				2504	0.0061					.											0													103	108	107					X																	140994320		2201	4289	6490	SO:0001583	missense	9947			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.1130G>T	X.37:g.140994320G>T	ENSP00000285879:p.Gly377Val		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.026	-1.372325	0.01214	.	.	ENSG00000155495	ENST00000285879	T	0.02446	4.29	.	.	.	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.45848	-0.9233	7	0.26408	T	0.33	.	4.0922	0.09975	0.0:0.0:0.3553:0.6447	.	377	O60732	MAGC1_HUMAN	V	377	ENSP00000285879:G377V	ENSP00000285879:G377V	G	+	2	0	MAGEC1	140821986	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	-2.809000	0.00756	-2.298000	0.00660	-2.354000	0.00241	GGG		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994320	G	T	140994320	3	4	19	1	0	0	0	0	1	0	0	0	9180	1232	43	5	1136	5	MAGEC1	23	140994320	Missense_Mutation	SNP	G	TCGA-KL-8341-01A-11D-2310-10	63599233	140994320	14276240	132	1489											
IKBKG	2539	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chrX	153770612	153770612	+	Intron	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	ggtcccatcaggtggggaaaGatgctgttccaggcgcacac	9	7	14	11	1	1	1	1	0	0	1	3	2	3	2	2	5	1	3	2	5	1	1			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrX:153770612G>C	ENST00000393564.2	-	2	233				G6PD_ENST00000369620.2_Intron|G6PD_ENST00000497281.1_Intron|IKBKG_ENST00000369607.1_Intron|IKBKG_ENST00000369609.5_Missense_Mutation_p.R45T|G6PD_ENST00000393562.2_Intron	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase						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)					GGTGGGGAAAGATGCTGTTCC	0.572																																						.											0													63	54	57					X																	153770612		1568	3582	5150	SO:0001627	intron_variant	8517			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.120+3638C>G	X.37:g.153770612G>C			D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305731	0.23736	.	.	ENSG00000073009	ENST00000369609	D	0.91792	-2.91	2.67	0.872	0.19113	.	.	.	.	.	T	0.81616	0.4860	.	.	.	0.09310	N	0.999994	B	0.24483	0.104	B	0.26969	0.075	T	0.66114	-0.6004	8	0.14656	T	0.56	.	3.4967	0.07657	0.1619:0.2636:0.5745:0.0	.	45	Q9Y6K9-2	.	T	45	ENSP00000358622:R45T	ENSP00000358622:R45T	R	+	2	0	IKBKG	153423806	0.002000	0.14202	0.002000	0.10522	0.034000	0.12701	0.389000	0.20751	0.119000	0.18210	-0.333000	0.08304	AGA		0.572	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		C	153770612	G	C	153770612	1	2	19	0	1	0	0	0	0	0	0	0	7613	942	33	5		5	IKBKG	23	153770612	Intron	SNP	G	TCGA-KL-8341-01A-11D-2310-10	12776292	153770612	1499948	133	1490											
ZFY	7544	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrY	2829115	2829115	+	Splice_Site	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	tttaatttttattctttaagGagctgatgctacacacatgg	11	17	7	6	0	1	1	0	1	1	0	1	2	1	2	0	2	3	2	0	2	4	9			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrY:2829115G>A	ENST00000155093.3	+	3	383	c.62G>A	c.(61-63)gGa>gAa	p.G21E	ZFY_ENST00000449237.1_5'UTR|ZFY_ENST00000383052.1_Splice_Site_p.G21E|ZFY_ENST00000431102.1_Intron	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	21					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						ATTCTTTAAGGAGCTGATGCT	0.318																																						.											0																																										SO:0001630	splice_region_variant	7544			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.62-1G>A	Y.37:g.2829115G>A			B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	CCDS14774.1																																																																																				0.318	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411	Missense_Mutation	A	2829115	G	A	2829115	5	1	19	1	0	0	0	0	0	0	1	0	17659	1188	41	3	68	3	ZFY	24	2829115	Splice_Site	SNP	G	TCGA-KL-8341-01A-11D-2310-10		2829115	56544451	134	1491											
CPSF3L	54973	broad.mit.edu	37	chr1	1254710	1254710	+	Missense_Mutation	SNP	T	T	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	ggaggtggacagccaccaccTtcttcatgcagtctttgatc	8	11	10	12	0	3	1	1	1	2	0	4	3	3	3	3	3	2	1	3	3	0	3			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:1254710T>C	ENST00000435064.1	-	4	477	c.395A>G	c.(394-396)aAg>aGg	p.K132R	CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000462432.1_5'Flank|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.K132R|CPSF3L_ENST00000545578.1_Missense_Mutation_p.K103R|CPSF3L_ENST00000421495.2_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000540437.1_Missense_Mutation_p.K138R	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	132					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGCCACCACCTTCTTCATGCA	0.602																																						.											0													207	199	202					1																	1254710		2203	4300	6503	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.395A>G	1.37:g.1254710T>C	ENSP00000413493:p.Lys132Arg		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483527	0.84854	.	.	ENSG00000127054	ENST00000435064;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000526332;ENST00000527719;ENST00000530031;ENST00000534345	T;T;T;T;T;T;T;T;T	0.79554	1.04;1.04;1.04;-1.28;1.04;0.91;-1.28;-1.28;1.04	4.73	4.73	0.59995	Beta-lactamase-like (2);	0.170393	0.52532	D	0.000076	D	0.84933	0.5582	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.71674	0.986;0.998;0.986;0.989	P;D;P;P	0.73380	0.787;0.98;0.787;0.865	T	0.82719	-0.0318	10	0.26408	T	0.33	-49.0445	14.4028	0.67060	0.0:0.0:0.0:1.0	.	132;151;138;132	Q5TA45-3;Q5TA51;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	R	132;138;132;103;132;8;138;179;133	ENSP00000413493:K132R;ENSP00000445001:K138R;ENSP00000392848:K132R;ENSP00000444672:K103R;ENSP00000411233:K132R;ENSP00000434790:K8R;ENSP00000436743:K138R;ENSP00000432009:K179R;ENSP00000435772:K133R	ENSP00000411233:K132R	K	-	2	0	CPSF3L	1244573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	1.993000	0.58246	0.459000	0.35465	AAG		0.602	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		C	1254710	T	C	1254710	3	2	20	1	0	0	0	0	1	0	0	0	3827	1609	56	2	1463	2	CPSF3L	1	1254710	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10		1254710	247995911	1	1492											
GALE	11313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	24122442	24122442	+	IGR	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	ttggtaggggagggtcctcaGgcttgcgtgccaaagcctga	7	9	16	9	1	1	1	1	1	0	0	2	2	2	2	3	5	3	2	3	5	2	3			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:24122442G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Silent_p.A348A|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGGGTCCTCAGGCTTGCGTGC	0.627																																						.											0													39	39	39					1																	24122442		2203	4300	6503	SO:0001628	intergenic_variant	2582			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		1.37:g.24122442G>A			Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	CCDS241.1																																																																																				0.627	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			A	24122442	G	A	24122442	1	1	20	0	1	0	0	0	0	0	0	0	6202	987	35	4		4	GALE	1	24122442	IGR	SNP	G	TCGA-KL-8342-01A-11D-2310-10	22867732	24122442	225128179	2	1493											
CNKSR1	10256	broad.mit.edu	37	chr1	26509852	26509852	+	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	gtcaggttcccactgactccCgactgcagatccagcctgga	8	8	10	15	1	1	2	1	1	0	1	4	4	4	3	4	2	2	2	4	2	0	1	rs200619424		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:26509852C>T	ENST00000374253.5	+	8	739	c.700C>T	c.(700-702)Cga>Tga	p.R234*	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Nonsense_Mutation_p.R234*	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	234	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.R234*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGACTCCCGACTGCAGAT	0.637													C|||	1	0.000199681	0	0	5008	,	,		19569	0		0.001	False		,,,				2504	0				NSCLC(180;1396 2109 28270 30756 34275)	.											1	Substitution - Nonsense(1)	prostate(1)											108	105	106					1																	26509852		2203	4300	6503	SO:0001587	stop_gained	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.700C>T	1.37:g.26509852C>T	ENSP00000363371:p.Arg234*		B1AMW9|O95381	Nonsense_Mutation	SNP	ENST00000374253.5	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	24.0	4.479257	0.84747	.	.	ENSG00000142675	ENST00000361530;ENST00000374253	.	.	.	5.0	3.97	0.46021	.	1.470530	0.03914	N	0.282324	.	.	.	.	.	.	0.19575	N	0.999969	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	0.0047	4.2499	0.10689	0.0:0.5771:0.2685:0.1544	.	.	.	.	X	234	.	ENSP00000354609:R234X	R	+	1	2	CNKSR1	26382439	0.000000	0.05858	0.018000	0.16275	0.256000	0.26092	0.008000	0.13197	2.307000	0.77673	0.655000	0.94253	CGA		0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		T	26509852	C	T	26509852	4	4	20	1	0	0	0	0	0	1	0	0	3606	644	23	1	730	1	CNKSR1	1	26509852	Nonsense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	2387410	26509852	222740769	3	1494											
RNF115	27246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	145687066	145687066	+	Missense_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	caatcacttctttcacagcaGttgtattgtgccgtggctag	8	14	9	10	1	3	0	2	0	1	0	3	0	3	0	1	1	2	4	1	1	3	6			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:145687066G>A	ENST00000369291.5	+	8	962	c.758G>A	c.(757-759)aGt>aAt	p.S253N		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						TTTCACAGCAGTTGTATTGTG	0.438																																						.											0													170	142	151					1																	145687066		2203	4300	6503	SO:0001583	missense	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.758G>A	1.37:g.145687066G>A	ENSP00000358297:p.Ser253Asn			Missense_Mutation	SNP	ENST00000369291.5	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795342	0.50208	.	.	ENSG00000121848	ENST00000369291	T	0.44881	0.91	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.155609	0.56097	D	0.000021	T	0.15349	0.0370	L	0.31664	0.95	0.30814	N	0.7385	B	0.24317	0.101	B	0.25506	0.061	T	0.04796	-1.0926	10	0.30854	T	0.27	-1.0535	9.7448	0.40440	0.0909:0.0:0.9091:0.0	.	253	Q9Y4L5	RN115_HUMAN	N	253	ENSP00000358297:S253N	ENSP00000358297:S253N	S	+	2	0	RNF115	144398423	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.496000	0.53288	2.748000	0.94277	0.655000	0.94253	AGT		0.438	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		A	145687066	G	A	145687066	3	1	20	1	0	0	0	0	1	0	0	0	13430	1029	36	4	788	4	RNF115	1	145687066	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	119177214	145687066	103563555	4	1495											
BCAN	63827	ucsc.edu;bcgsc.ca	37	chr1	156626107	156626107	+	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	cagcccctgccacaatggtgGgacatgcttggaggaggagg	9	6	16	10	0	0	0	0	0	0	0	0	4	0	4	3	6	3	1	3	6	1	1			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:156626107G>A	ENST00000329117.5	+	9	2312	c.1976G>A	c.(1975-1977)gGg>gAg	p.G659E	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	659	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)					CACAATGGTGGGACATGCTTG	0.657																																						.											0													81	73	76					1																	156626107		2203	4300	6503	SO:0001583	missense	63827			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.1976G>A	1.37:g.156626107G>A	ENSP00000331210:p.Gly659Glu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792492	0.70452	.	.	ENSG00000132692	ENST00000329117	D	0.97480	-4.4	5.63	5.63	0.86233	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.99083	0.9685	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99157	1.0860	10	0.56958	D	0.05	-27.3889	18.2473	0.89991	0.0:0.0:1.0:0.0	.	659	Q96GW7	PGCB_HUMAN	E	659	ENSP00000331210:G659E	ENSP00000331210:G659E	G	+	2	0	BCAN	154892731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.929000	0.48916	2.654000	0.90174	0.561000	0.74099	GGG		0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		A	156626107	G	A	156626107	3	1	20	1	0	0	0	0	1	0	0	0	1345	1232	43	3	2080	3	BCAN	1	156626107	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	10939041	156626107	92624514	5	1496											
OR2B11	127623	ucsc.edu	37	chr1	247615262	247615262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaggggagtcccctaagAagctatggttgtcacttttc	8	14	10	9	0	1	1	1	0	0	1	3	2	2	2	2	3	1	2	2	3	4	7	rs35305980|rs397733455	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:247615262A>G	ENST00000318749.6	-	1	46	c.23T>C	c.(22-24)tTc>tCc	p.F8S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	8						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)			GTCCCCTAAGAAGCTATGGTT	0.473																																						.											0													74	72	73					1																	247615262		2167	4183	6350	SO:0001583	missense	127623				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.23T>C	1.37:g.247615262A>G	ENSP00000325682:p.Phe8Ser		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	A	0.336	-0.953364	0.02285	.	.	ENSG00000177535	ENST00000318749	T	0.36157	1.27	4.81	-0.489	0.12052	.	1.437710	0.04272	N	0.342190	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15178	-1.0446	10	0.20519	T	0.43	.	4.2883	0.10865	0.4326:0.3673:0.2001:0.0	.	8	Q5JQS5	OR2BB_HUMAN	S	8	ENSP00000325682:F8S	ENSP00000325682:F8S	F	-	2	0	OR2B11	245681885	.	.	0.000000	0.03702	0.071000	0.16799	.	.	-0.162000	0.10964	0.445000	0.29226	TTC		0.473	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		G	247615262	A	G	247615262	3	3	20	1	0	0	0	0	1	0	0	0	10988	246	9	4	933	4	OR2B11	1	247615262	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	90989155	247615262	1635359	6	1497											
AFF3	3899	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	100167950	100167950	+	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	aggtccctatgacaggtgggCgctgttccgcagccagtgca	7	8	14	12	2	0	1	0	1	0	0	2	1	2	1	3	3	2	4	3	3	1	2	rs138104794		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr2:100167950C>T	ENST00000409236.2	-	23	3779	c.3667G>A	c.(3667-3669)Gcc>Acc	p.A1223T	AFF3_ENST00000356421.2_Missense_Mutation_p.A1248T|AFF3_ENST00000317233.4_Missense_Mutation_p.A1223T|AFF3_ENST00000409579.1_Missense_Mutation_p.A1248T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1223					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GACAGGTGGGCGCTGTTCCGC	0.612													C|||	1	0.000199681	0	0	5008	,	,		16134	0		0.001	False		,,,				2504	0					.											0								C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	37	36	36		3742,3667	-11.6	0.1	2	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	AFF3	NM_001025108.1,NM_002285.2	58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	1248/1252,1223/1227	100167950	2,13004	2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3667G>A	2.37:g.100167950C>T	ENSP00000387207:p.Ala1223Thr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.46	2.839305	0.51057	2.27E-4	1.16E-4	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	6.17	-11.6	0.00059	.	0.703668	0.14247	N	0.331667	T	0.43055	0.1230	N	0.12569	0.235	0.27833	N	0.941366	B;B	0.15719	0.014;0.006	B;B	0.19946	0.027;0.003	T	0.23226	-1.0194	10	0.23891	T	0.37	.	20.6491	0.99593	0.0:0.3068:0.0:0.6932	.	1223;1248	P51826;P51826-2	AFF3_HUMAN;.	T	1223;1248;1248;1223	ENSP00000317421:A1223T;ENSP00000348793:A1248T;ENSP00000386834:A1248T;ENSP00000387207:A1223T	ENSP00000317421:A1223T	A	-	1	0	AFF3	99534382	0.004000	0.15560	0.050000	0.19076	0.966000	0.64601	-0.867000	0.04241	-2.907000	0.00309	-0.812000	0.03155	GCC		0.612	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		T	100167950	C	T	100167950	3	4	20	1	0	0	0	0	1	0	0	0	358	768	27	1	17	1	AFF3	2	100167950	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		100167950	143031423	7	1498											
RBMS1	5937	broad.mit.edu;hgsc.bcm.edu	37	chr2	161135123	161135123	+	Missense_Mutation	SNP	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	gagggctgatcattgatgcgGgctgtagtgacatggtgtgc	7	11	17	6	1	1	3	1	3	0	0	1	4	1	3	0	3	2	3	0	3	1	2			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr2:161135123G>T	ENST00000348849.3	-	11	1428	c.998C>A	c.(997-999)cCc>cAc	p.P333H	RBMS1_ENST00000392753.3_Missense_Mutation_p.P346H|RBMS1_ENST00000409075.1_Missense_Mutation_p.P297H|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.P297H|RBMS1_ENST00000409289.2_Missense_Mutation_p.P297H	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	333					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)								CATTGATGCGGGCTGTAGTGA	0.493											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													114	97	103					2																	161135123		2203	4298	6501	SO:0001583	missense	5937			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.998C>A	2.37:g.161135123G>T	ENSP00000294904:p.Pro333His	1814	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144459	0.77888	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.30981	1.54;1.8;1.8;1.51;1.8	6.08	6.08	0.98989	.	0.092424	0.85682	D	0.000000	T	0.58509	0.2127	M	0.72353	2.195	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.458;0.995;0.999;0.998;0.996	D;B;P;D;D;D	0.73380	0.973;0.212;0.874;0.98;0.966;0.923	T	0.56842	-0.7912	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	212;333;330;215;297;346	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	H	333;297;297;346;297	ENSP00000294904:P333H;ENSP00000386347:P297H;ENSP00000386571:P297H;ENSP00000376508:P346H;ENSP00000387280:P297H	ENSP00000294904:P333H	P	-	2	0	RBMS1	160843369	1.000000	0.71417	0.975000	0.42487	0.932000	0.56968	5.221000	0.65272	2.894000	0.99253	0.655000	0.94253	CCC		0.493	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		T	161135123	G	T	161135123	3	4	20	1	0	0	0	0	1	0	0	0	13148	1232	43	5	234	5	RBMS1	2	161135123	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	60967173	161135123	82064250	8	1499											
USP19	10869	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	49153200	49153200	+	Missense_Mutation	SNP	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	ttggggttacatgctccatgGgtgtgcgggttgccacactg	5	12	15	9	1	0	0	0	0	0	0	1	0	1	0	2	4	4	3	2	4	1	3			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:49153200G>T	ENST00000398888.2	-	10	1658	c.1340C>A	c.(1339-1341)cCc>cAc	p.P447H	USP19_ENST00000398892.3_Missense_Mutation_p.P487H|USP19_ENST00000417901.1_Missense_Mutation_p.P550H|USP19_ENST00000453664.1_Missense_Mutation_p.P538H|USP19_ENST00000434032.2_Missense_Mutation_p.P548H|USP19_ENST00000398896.1_Missense_Mutation_p.P255H|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.P487H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	447					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)		ATGCTCCATGGGTGTGCGGGT	0.597																																						.											0													89	94	92					3																	49153200		2111	4220	6331	SO:0001583	missense	10869			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.1340C>A	3.37:g.49153200G>T	ENSP00000381863:p.Pro447His		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746657	0.30955	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.33654	2.03;2.04;2.14;2.15;2.04;2.16;2.14;1.4	6.17	6.17	0.99709	Domain of unknown function DUF1872 (1);	0.595439	0.18798	N	0.130869	T	0.51652	0.1687	L	0.40543	1.245	0.19300	N	0.999974	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999;0.999;0.998	D;D;D;P;D;D;P	0.74023	0.975;0.982;0.975;0.903;0.946;0.957;0.903	T	0.47129	-0.9141	10	0.72032	D	0.01	-14.2127	14.6223	0.68594	0.0696:0.0:0.9304:0.0	.	613;548;538;447;487;533;255	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	H	255;487;550;538;487;447;548;535	ENSP00000381870:P255H;ENSP00000381872:P487H;ENSP00000395260:P550H;ENSP00000400090:P538H;ENSP00000381867:P487H;ENSP00000381863:P447H;ENSP00000401197:P548H;ENSP00000303503:P535H	ENSP00000303503:P535H	P	-	2	0	USP19	49128204	0.992000	0.36948	0.144000	0.22314	0.242000	0.25591	5.098000	0.64548	2.941000	0.99782	0.655000	0.94253	CCC		0.597	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		T	49153200	G	T	49153200	3	4	20	1	0	0	0	0	1	0	0	0	17047	1232	43	5	2684	5	USP19	3	49153200	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10		49153200	148869230	9	1500											
GHSR	2693	broad.mit.edu	37	chr3	172165985	172165985	+	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	aggttggtggtggtgcgcagCtcgcggaagcgcgacaccac	7	6	17	11	5	0	0	0	0	0	0	1	2	0	1	1	5	3	3	1	5	1	1			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:172165985C>T	ENST00000241256.2	-	1	261	c.219G>A	c.(217-219)gaG>gaA	p.E73E	GHSR_ENST00000427970.1_Silent_p.E73E	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	73					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGGTGCGCAGCTCGCGGAAGC	0.652																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	.											0													74	61	66					3																	172165985		2203	4300	6503	SO:0001819	synonymous_variant	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.219G>A	3.37:g.172165985C>T			Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																				0.652	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		T	172165985	C	T	172165985	2	4	20	1	0	0	0	0	0	0	0	1	6375	796	28	4		4	GHSR	3	172165985	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	123012785	172165985	25856445	10	1501											
TMEM41A	90407	ucsc.edu	37	chr3	185214712	185214712	+	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	tggtgctccttccggtactcTcgaaggacctcagagagctc	7	10	11	13	2	2	1	1	0	1	1	6	4	4	2	3	3	3	3	3	3	2	2			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:185214712T>C	ENST00000421852.1	-	2	272	c.177A>G	c.(175-177)cgA>cgG	p.R59R	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Silent_p.R59R	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	59						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCCGGTACTCTCGAAGGACCT	0.587																																						.											0													48	46	47					3																	185214712		2202	4300	6502	SO:0001819	synonymous_variant	90407			BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.177A>G	3.37:g.185214712T>C			A8K4B3|D3DNU2|Q6ZMJ0	Silent	SNP	ENST00000421852.1	37	CCDS3271.1																																																																																				0.587	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		C	185214712	T	C	185214712	2	2	20	1	0	0	0	0	0	0	0	1	16161	1538	54	2		2	TMEM41A	3	185214712	Silent	SNP	T	TCGA-KL-8342-01A-11D-2310-10	13048727	185214712	12807718	11	1502											
ZCCHC4	29063	broad.mit.edu	37	chr4	25353254	25353254	+	Frame_Shift_Del	DEL	T	T	-																															attttctggattttcccctaTttttttgaatcccgaatttg																										TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:25353254delT	ENST00000302874.4	+	8	978	c.954delT	c.(952-954)tatfs	p.Y318fs	AC108218.1_ENST00000580712.1_RNA|ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	318							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTTCCCCTATTTTTTTGAAT	0.353																																						.											0													138	127	130					4																	25353254		1789	4063	5852	SO:0001589	frameshift_variant	29063			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.954delT	4.37:g.25353254delT	ENSP00000303468:p.Tyr318fs		B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Frame_Shift_Del	DEL	ENST00000302874.4	37	CCDS43218.1																																																																																				0.353	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			-	25353254	T	-	25353254	7	5	20	1	0	1	0	1	0	0	0	0	17587	1500	52	0	984	0	ZCCHC4	4	25353254	Frame_Shift_Del	DEL	T	TCGA-KL-8342-01A-11D-2310-10		25353254	165801022	12	1503											
FGA	2243	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	155506781	155506781	+	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	gcctcatctgccattttataGctcttgctttcaaatgtgga	8	16	7	10	0	4	0	2	0	2	0	4	1	4	1	2	1	3	2	2	1	3	5			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:155506781G>C	ENST00000302053.3	-	5	1878	c.1800C>G	c.(1798-1800)agC>agG	p.S600R	FGA_ENST00000403106.3_Missense_Mutation_p.S600R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	600					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCATTTTATAGCTCTTGCTTT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)	.											0													140	133	135					4																	155506781		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1800C>G	4.37:g.155506781G>C	ENSP00000306361:p.Ser600Arg		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.01|11.01	1.511900|1.511900	0.27036|0.27036	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.58940	.|0.3;2.3	5.81|5.81	4.08|4.08	0.47627|0.47627	.|.	.|3.106990	.|0.00531	.|N	.|0.000202	T|T	0.70500|0.70500	0.3231|0.3231	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|D;D	.|0.67145	.|0.97;0.996	.|P;P	.|0.53649	.|0.62;0.731	T|T	0.49143|0.49143	-0.8970|-0.8970	6|10	0.44086|0.45353	T|T	0.13|0.12	.|.	11.5816|11.5816	0.50894|0.50894	0.2122:0.0:0.7878:0.0|0.2122:0.0:0.7878:0.0	.|.	.|600;600	.|P02671-2;P02671	.|.;FIBA_HUMAN	G|R	242|600	.|ENSP00000306361:S600R;ENSP00000385981:S600R	ENSP00000407891:A242G|ENSP00000306361:S600R	A|S	-|-	2|3	0|2	FGA|FGA	155726231|155726231	0.028000|0.028000	0.19301|0.19301	0.008000|0.008000	0.14137|0.14137	0.069000|0.069000	0.16628|0.16628	1.552000|1.552000	0.36244|0.36244	0.387000|0.387000	0.25024|0.25024	-0.797000|-0.797000	0.03246|0.03246	GCT|AGC		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		C	155506781	G	C	155506781	3	2	20	1	0	0	0	0	1	0	0	0	5830	962	34	5	852	5	FGA	4	155506781	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	130153527	155506781	35647495	13	1504											
GUCY1A3	2982	broad.mit.edu;mdanderson.org	37	chr4	156643251	156643251	+	Missense_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	cgttggagttaaaatgccccGttactgtctttttggaaaca	10	14	9	8	2	1	0	0	0	1	0	1	2	1	2	2	2	3	3	2	2	4	5	rs370478508		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:156643251G>A	ENST00000296518.7	+	9	1987	c.1778G>A	c.(1777-1779)cGt>cAt	p.R593H	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335H|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593H			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	593	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAAATGCCCCGTTACTGTCTT	0.423																																						.											0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	229	220	223		1778,1778,1778,1778,1073,1778	5.8	1	4		223	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130687.1	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	593/691,593/691,593/691,593/691,358/456,593/625	156643251	1,13005	2203	4300	6503	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1778G>A	4.37:g.156643251G>A	ENSP00000296518:p.Arg593His		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572927	0.96553	0.0	1.16E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.82	5.82	0.92795	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.93015	0.7777	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93505	0.6848	10	0.87932	D	0	.	20.0945	0.97833	0.0:0.0:1.0:0.0	.	593;593	B3KU69;Q02108	.;GCYA3_HUMAN	H	593;593;593;593;335;593;593	ENSP00000424361:R593H;ENSP00000421493:R593H;ENSP00000426968:R593H;ENSP00000412201:R593H;ENSP00000377418:R335H;ENSP00000296518:R593H;ENSP00000426040:R593H	ENSP00000296518:R593H	R	+	2	0	GUCY1A3	156862701	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.869000	0.99810	2.752000	0.94435	0.585000	0.79938	CGT		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			A	156643251	G	A	156643251	3	1	20	1	0	0	0	0	1	0	0	0	6894	1145	40	1	1819	1	GUCY1A3	4	156643251	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	1136470	156643251	34511025	14	1505											
HOMER1	9456	broad.mit.edu	37	chr5	78672018	78672018	+	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	tctttgttccgaatttctacTtccttcagaaacaaaagtgt	11	16	5	9	1	3	1	1	0	2	1	5	2	5	1	2	0	2	1	2	0	5	6			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:78672018T>C	ENST00000334082.6	-	9	2321	c.879A>G	c.(877-879)gaA>gaG	p.E293E	HOMER1_ENST00000535690.1_Silent_p.E119E|HOMER1_ENST00000282260.6_Silent_p.E163E|HOMER1_ENST00000508576.1_Missense_Mutation_p.K177R	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	293					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GAATTTCTACTTCCTTCAGAA	0.368																																						.											0													107	97	100					5																	78672018		1836	4081	5917	SO:0001819	synonymous_variant	9456			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.879A>G	5.37:g.78672018T>C			B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.539029	0.00942	.	.	ENSG00000152413	ENST00000508576	T	0.43688	0.94	5.7	3.22	0.36961	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08743	-1.0707	8	0.39692	T	0.17	-17.0933	5.0657	0.14582	0.1337:0.1419:0.0:0.7244	.	177	Q86YM7-3	.	R	177	ENSP00000426651:K177R	ENSP00000426651:K177R	K	-	2	0	HOMER1	78707774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.946000	0.29069	0.984000	0.38629	0.482000	0.46254	AAG		0.368	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		C	78672018	T	C	78672018	2	2	20	1	0	0	0	0	0	0	0	1	7278	1606	56	2		2	HOMER1	5	78672018	Silent	SNP	T	TCGA-KL-8342-01A-11D-2310-10		78672018	102243242	15	1506											
HARS2	23438	broad.mit.edu	37	chr5	140073223	140073223	+	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	ctgaaagcacatcaagagaaAccaaattttattatcaagac	19	9	5	8	0	2	3	2	1	0	2	2	4	2	3	1	0	2	1	1	0	7	3			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:140073223A>G	ENST00000230771.3	+	2	379	c.156A>G	c.(154-156)aaA>aaG	p.K52K	HARS_ENST00000448240.1_5'Flank|HARS_ENST00000438307.2_5'Flank|HARS_ENST00000307633.3_5'Flank|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000448069.2_Intron|HARS_ENST00000415192.2_5'Flank|HARS_ENST00000457527.2_5'Flank|HARS2_ENST00000437649.2_Silent_p.K52K|HARS_ENST00000431330.2_5'Flank|HARS2_ENST00000508522.1_Intron|HARS2_ENST00000432671.2_Silent_p.K52K|HARS2_ENST00000435019.2_Silent_p.K52K|HARS_ENST00000504156.1_5'Flank	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	52					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)			ATCAAGAGAAACCAAATTTTA	0.463																																						.											0													143	138	139					5																	140073223		2203	4300	6503	SO:0001819	synonymous_variant	23438			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.156A>G	5.37:g.140073223A>G			B4DDY8	Silent	SNP	ENST00000230771.3	37	CCDS4238.1																																																																																				0.463	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		G	140073223	A	G	140073223	2	3	20	1	0	0	0	0	0	0	0	1	6960	40	2	2		2	HARS2	5	140073223	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10	61401205	140073223	40842037	16	1507											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720439	140720439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgcgagccctgctggAcagagacgcgctcaagcaga	10	3	14	14	5	1	2	1	0	0	2	1	5	1	3	1	2	3	3	1	2	1	0			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:140720439A>G	ENST00000394576.2	+	1	1901	c.1901A>G	c.(1900-1902)gAc>gGc	p.D634G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	634	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)			GCCCTGCTGGACAGAGACGCG	0.692																																						.											0													44	52	49					5																	140720439		2202	4297	6499	SO:0001583	missense	56113			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.1901A>G	5.37:g.140720439A>G	ENSP00000378077:p.Asp634Gly		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	16.86	3.238465	0.58886	.	.	ENSG00000081853	ENST00000394576	T	0.65178	-0.14	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	U	0.000540	T	0.70815	0.3267	L	0.47016	1.485	0.29160	N	0.877806	D;D	0.67145	0.985;0.996	D;D	0.68039	0.913;0.955	T	0.68360	-0.5429	10	0.72032	D	0.01	.	11.8318	0.52299	0.854:0.146:0.0:0.0	.	634;634	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	G	634	ENSP00000378077:D634G	ENSP00000378077:D634G	D	+	2	0	PCDHGA2	140700623	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.957000	0.63652	2.093000	0.63338	0.397000	0.26171	GAC		0.692	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		G	140720439	A	G	140720439	3	3	20	1	0	0	0	0	1	0	0	0	11554	275	10	2	1903	2	PCDHGA2	5	140720439	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	647216	140720439	40194821	17	1508											
UBLCP1	134510	bcgsc.ca	37	chr5	158696939	158696939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgcagaaaatgatgttAagcttggagctctcaaactg	14	10	9	8	0	1	2	1	1	1	1	2	3	1	3	1	1	5	4	1	1	5	2			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:158696939A>G	ENST00000296786.6	+	3	504	c.178A>G	c.(178-180)Aag>Gag	p.K60E		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	60	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGATGTTAAGCTTGGAGC	0.363																																						.											0													92	88	89					5																	158696939		2203	4300	6503	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.178A>G	5.37:g.158696939A>G	ENSP00000296786:p.Lys60Glu		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	A	8.757	0.922724	0.18056	.	.	ENSG00000164332	ENST00000296786	T	0.73363	-0.74	6.06	6.06	0.98353	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.28608	0.87	0.80722	D	1	B	0.28584	0.216	B	0.27887	0.084	T	0.59451	-0.7452	10	0.02654	T	1	-15.8829	16.6245	0.84952	1.0:0.0:0.0:0.0	.	60	Q8WVY7	UBCP1_HUMAN	E	60	ENSP00000296786:K60E	ENSP00000296786:K60E	K	+	1	0	UBLCP1	158629517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.323000	0.78572	0.528000	0.53228	AAG		0.363	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		G	158696939	A	G	158696939	3	3	20	1	0	0	0	0	1	0	0	0	16888	363	13	4	184	4	UBLCP1	5	158696939	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	17976500	158696939	22218321	18	1509											
HLA-DQB1	3119	mdanderson.org	37	chr6	32634331	32634331	+	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	agcatcgccagcatcaaggtGacagttgctacccgaaggtc	11	7	11	12	2	1	1	1	1	0	0	3	2	1	1	2	2	4	4	2	2	3	2	rs1049058	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:32634331G>C	ENST00000399082.3	-	1	98	c.54C>G	c.(52-54)gtC>gtG	p.V18V	HLA-DQB1_ENST00000399084.1_Silent_p.V18V|HLA-DQB1_ENST00000374943.4_Silent_p.V18V|HLA-DQB1_ENST00000434651.2_Silent_p.V18V|HLA-DQB1_ENST00000399079.3_Silent_p.V18V			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	18					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|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)|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)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GCATCAAGGTGACAGTTGCTA	0.577									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	.											0								C		1235,2669		382,471,1099	54	52	53		54	3.2	0	6	dbSNP_86	53	3343,4893		1194,955,1969	no	coding-synonymous	HLA-DQB1	NM_002123.4		1576,1426,3068	CC,CG,GG		40.5901,31.6342,37.71		18/262	32634331	4578,7562	1952	4118	6070	SO:0001819	synonymous_variant	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.54C>G	6.37:g.32634331G>C			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37																																																																																					0.577	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		C	32634331	G	C	32634331	2	2	20	1	0	0	0	0	0	0	0	1	7206	1277	45	5		5	HLA-DQB1	6	32634331	Silent	SNP	G	TCGA-KL-8342-01A-11D-2310-10		32634331	138480736	19	1510			1	16		2	2	20	N	T_G	4.173479e-05
HLA-DQB1	3119	bcgsc.ca	37	chr6	32634350	32634350	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagttgctacccgaaggTctccggggatccgcaaagcc	9	7	12	13	3	1	1	0	1	1	0	3	3	2	2	4	3	3	3	4	3	3	2	rs1049057	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:32634350T>C	ENST00000399082.3	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G	HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.D12G			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	12			G -> D (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12; dbSNP:rs1049057).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|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)|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)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	TACCCGAAGGTCTCCGGGGAT	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				t|||	3031	0.605232	0.4818	0.7089	5008	,	,		11450	0.6657		0.5755	False		,,,				2504	0.6667				Esophageal Squamous(151;720 1825 15000 40336 43415)	.											0								C	GLY/ASP	1428,2438		461,506,966	50	48	49		35	1.7	0	6	dbSNP_86	49	3721,4489		1409,903,1793	yes	missense	HLA-DQB1	NM_002123.4	94	1870,1409,2759	CC,CT,TT		45.3228,36.9374,42.6383	benign	12/262	32634350	5149,6927	1933	4105	6038	SO:0001583	missense	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.35A>G	6.37:g.32634350T>C	ENSP00000382032:p.Asp12Gly		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37		1225	0.5608974358974359	193	0.39227642276422764	236	0.6519337016574586	398	0.6958041958041958	398	0.525065963060686	.	0.021	-1.421267	0.01126	0.369374	0.453228	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.03386	3.95;8.5;8.5;8.5;8.5	3.59	1.68	0.24146	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.80722	P	0.0	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.44081	-0.9351	7	0.02654	T	1	.	3.1383	0.06447	0.2174:0.5424:0.0:0.2402	rs1049057;rs3189133;rs9274521;rs12722099;rs16868461	22;12;12;12	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	G	12	ENSP00000382032:D12G;ENSP00000382029:D12G;ENSP00000364080:D12G;ENSP00000407332:D12G;ENSP00000382034:D12G	ENSP00000364080:D12G	D	-	2	0	HLA-DQB1	32742328	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.328000	0.19681	0.003000	0.14656	-0.368000	0.07277	GAC		0.562	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		C	32634350	T	C	32634350	3	2	20	1	0	0	0	0	1	0	0	0	7206	1667	58	2	770	2	HLA-DQB1	6	32634350	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10	19	32634350	138480717	20	1511			1	16		2	2	20	N	T_G	4.173479e-05
USP45	85015	ucsc.edu	37	chr6	99930673	99930673	+	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	actttaggagaaagtggtccTttttcagtctccttcatgct	8	16	8	9	0	3	1	2	0	1	1	5	2	4	1	2	2	1	1	2	2	2	5	rs35004033		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:99930673T>C	ENST00000327681.6	-	8	1333	c.801A>G	c.(799-801)aaA>aaG	p.K267K	USP45_ENST00000472914.2_Silent_p.K267K|USP45_ENST00000500704.2_Silent_p.K267K|USP45_ENST00000329966.6_Silent_p.K267K|USP45_ENST00000392738.2_Intron|USP45_ENST00000369233.2_Silent_p.K267K	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	267	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		AAAGTGGTCCTTTTTCAGTCT	0.373																																						.											0													82	86	84					6																	99930673		2203	4300	6503	SO:0001819	synonymous_variant	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.801A>G	6.37:g.99930673T>C			B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	CCDS34501.1																																																																																				0.373	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		C	99930673	T	C	99930673	2	2	20	1	0	0	0	0	0	0	0	1	17073	1606	56	2		2	USP45	6	99930673	Silent	SNP	T	TCGA-KL-8342-01A-11D-2310-10	67296323	99930673	71184394	21	1512											
AHI1	54806	broad.mit.edu	37	chr6	135787070	135787070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaactgttctttcagttTctttcttattttcctcttaa	7	22	3	9	0	6	0	2	0	4	0	7	0	7	0	1	0	1	2	1	0	3	8			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:135787070T>C	ENST00000367800.4	-	5	847	c.631A>G	c.(631-633)Aaa>Gaa	p.K211E	AHI1_ENST00000457866.2_Missense_Mutation_p.K211E|AHI1_ENST00000327035.6_Missense_Mutation_p.K211E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	211	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCTTTCAGTTTCTTTCTTATT	0.348																																						.											0													143	135	137					6																	135787070		1846	4105	5951	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.631A>G	6.37:g.135787070T>C	ENSP00000356774:p.Lys211Glu		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703613	0.88924	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.72394	1.07;1.07;1.07;1.62;-0.65	5.86	5.86	0.93980	.	0.115474	0.64402	D	0.000018	T	0.80210	0.4581	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.82604	-0.0375	10	0.87932	D	0	-26.3867	16.5602	0.84551	0.0:0.0:0.0:1.0	.	211;211	Q8N157-2;Q8N157	.;AHI1_HUMAN	E	211;211;211;211;211;193	ENSP00000356774:K211E;ENSP00000388650:K211E;ENSP00000265602:K211E;ENSP00000322478:K211E;ENSP00000433063:K193E	ENSP00000265602:K211E	K	-	1	0	AHI1	135828763	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.662000	0.68032	2.367000	0.80283	0.528000	0.53228	AAA		0.348	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		C	135787070	T	C	135787070	3	2	20	1	0	0	0	0	1	0	0	0	413	1792	62	4	3108	4	AHI1	6	135787070	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10	35856397	135787070	35327997	22	1513											
PARK2	5071	broad.mit.edu	37	chr6	162394348	162394348	+	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	ccttacctgacgtctgtgcaCgtaatgcaagtgatgttccg	8	12	10	11	3	1	2	0	2	1	0	2	2	2	2	3	0	3	4	3	0	3	3			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:162394348C>A	ENST00000366898.1	-	6	822	c.720G>T	c.(718-720)acG>acT	p.T240T	PARK2_ENST00000366896.1_Silent_p.T91T|PARK2_ENST00000366897.1_Silent_p.T212T|PARK2_ENST00000366892.1_Silent_p.T240T|PARK2_ENST00000366894.1_Silent_p.T49T|PARK2_ENST00000338468.3_Silent_p.T49T	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	240			T -> M (in PARK2). {ECO:0000269|PubMed:12629236}.|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization). {ECO:0000269|PubMed:9731209}.		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|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 phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CGTCTGTGCACGTAATGCAAG	0.448																																						.											0													234	180	198					6																	162394348		2203	4300	6503	SO:0001819	synonymous_variant	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.720G>T	6.37:g.162394348C>A			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	CCDS5281.1																																																																																				0.448	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			A	162394348	C	A	162394348	2	1	20	1	0	0	0	0	0	0	0	1	11449	523	19	5		5	PARK2	6	162394348	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	26607278	162394348	8720719	23	1514											
PILRB	29990	broad.mit.edu;bcgsc.ca	37	chr7	99956366	99956366	+	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	atggggtcactcaaccaaaaCacctctcagcctccatgggt	11	8	8	14	0	3	0	3	0	1	0	5	0	4	0	4	3	3	0	4	3	3	0			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:99956366C>T	ENST00000452089.1	+	7	1177	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Missense_Mutation_p.H40Y|PILRB_ENST00000444073.1_Missense_Mutation_p.H40Y|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000610247.1_Missense_Mutation_p.H40Y			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	40	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAACCAAAACACCTCTCAGC	0.537																																						.											0													66	70	69					7																	99956366		2199	4294	6493	SO:0001583	missense	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.118C>T	7.37:g.99956366C>T	ENSP00000391748:p.His40Tyr		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.027116	0.00410	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;1.99	1.83	-1.49	0.08718	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.917930	0.00589	N	0.000346	T	0.38026	0.1025	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.11036	-1.0604	9	.	.	.	.	3.4261	0.07412	0.438:0.3385:0.2235:0.0	.	40	Q9UKJ0	PILRB_HUMAN	Y	40;40;40;40;40;40;40;40;145;40	ENSP00000311153:H40Y;ENSP00000391748:H40Y;ENSP00000411261:H40Y;ENSP00000403757:H40Y;ENSP00000404321:H40Y;ENSP00000389856:H40Y;ENSP00000410764:H40Y;ENSP00000408425:H40Y	.	H	+	1	0	PILRB	99794302	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.839000	0.01686	-0.382000	0.07870	0.536000	0.68110	CAC		0.537	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		T	99956366	C	T	99956366	3	4	20	1	0	0	0	0	1	0	0	0	11926	478	17	4	124	4	PILRB	7	99956366	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		99956366	59182297	24	1515											
PRSS1	5644	mdanderson.org	37	chr7	142458409	142458409	+	Missense_Mutation	SNP	C	C	G																															tcccatctccactccagttgCtgccccctttgatgatgatg																								rs200665515		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:142458409C>G	ENST00000311737.7	+	2	50	c.44C>G	c.(43-45)gCt>gGt	p.A15G	PRSS1_ENST00000486171.1_Missense_Mutation_p.A15G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	15					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ACTCCAGTTGCTGCCCCCTTT	0.502																																						.											0													160	163	162					7																	142458409		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.44C>G	7.37:g.142458409C>G	ENSP00000308720:p.Ala15Gly		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776823	0.70107	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92752	-3.1;-3.1	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);	0.048314	0.85682	D	0.000000	D	0.91915	0.7440	L	0.46614	1.455	0.51767	D	0.999935	P	0.50943	0.94	P	0.52424	0.698	D	0.92471	0.5985	10	0.56958	D	0.05	.	14.3966	0.67015	0.0:1.0:0.0:0.0	.	15	P07477	TRY1_HUMAN	G	15	ENSP00000417854:A15G;ENSP00000308720:A15G	ENSP00000308720:A15G	A	+	2	0	PRSS1	142137983	1.000000	0.71417	0.112000	0.21494	0.035000	0.12851	4.608000	0.61141	1.879000	0.54435	0.404000	0.27445	GCT		0.502	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142458409	C	G	142458409	3	3	20	1	0	0	0	0	1	0	0	0	12614	797	28	5	50	5	PRSS1	7	142458409	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	42502043	142458409	16680254	25	1516	42	2									
PRSS1	5644	mdanderson.org	37	chr7	142458412	142458412	+	Missense_Mutation	SNP	C	C	T																															catctccactccagttgctgCcccctttgatgatgatgaca																								rs202003805		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:142458412C>T	ENST00000311737.7	+	2	53	c.47C>T	c.(46-48)gCc>gTc	p.A16V	PRSS1_ENST00000486171.1_Missense_Mutation_p.A16V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	16			A -> V (in PCTT; disrupts signal sequence cleavage site). {ECO:0000269|PubMed:10381903}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCAGTTGCTGCCCCCTTTGAT	0.507																																						.											0			GRCh37	CM993429	PRSS1	M							161	163	162					7																	142458412		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.47C>T	7.37:g.142458412C>T	ENSP00000308720:p.Ala16Val		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	5.455	0.268997	0.10349	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.93133	-3.17;-3.17	3.49	0.989	0.19802	Peptidase cysteine/serine, trypsin-like (1);	0.446479	0.27622	N	0.018559	D	0.84197	0.5419	L	0.28054	0.825	0.25694	N	0.985655	B	0.02656	0.0	B	0.06405	0.002	T	0.67027	-0.5774	10	0.11794	T	0.64	.	7.0429	0.25031	0.0:0.2125:0.0:0.7875	.	16	P07477	TRY1_HUMAN	V	16	ENSP00000417854:A16V;ENSP00000308720:A16V	ENSP00000308720:A16V	A	+	2	0	PRSS1	142137986	0.014000	0.17966	0.005000	0.12908	0.025000	0.11179	0.750000	0.26334	0.076000	0.16826	-0.490000	0.04691	GCC		0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			T	142458412	C	T	142458412	3	4	20	1	0	0	0	0	1	0	0	0	12614	739	26	3	53	3	PRSS1	7	142458412	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	3	142458412	16680251	26	1517	42	2									
PPP2R2A	5520	broad.mit.edu	37	chr8	26196504	26196504	+	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	tctttcaacaggagcaggagGtaagtgtttaaagtttattg	12	14	11	4	0	2	0	1	0	1	0	2	2	2	2	0	3	2	4	0	3	5	7			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr8:26196504G>T	ENST00000380737.3	+	3	509		c.e3+1		PPP2R2A_ENST00000523473.1_Splice_Site|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)		GGAGCAGGAGGTAAGTGTTTA	0.353																																						.											0													97	100	99					8																	26196504		2203	4299	6502	SO:0001630	splice_region_variant	5520			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.180+1G>T	8.37:g.26196504G>T			B2RBU8|B4E1T7|P50409|Q00007	Splice_Site	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916025	0.73098	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0703	0.86571	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R2A	26252421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.557000	0.86248	0.591000	0.81541	.		0.353	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717	Intron	T	26196504	G	T	26196504	5	4	20	1	0	0	0	0	0	0	1	0	12384	1275	44	5	232	5	PPP2R2A	8	26196504	Splice_Site	SNP	G	TCGA-KL-8342-01A-11D-2310-10		26196504	120167518	27	1518											
GDF6	392255	bcgsc.ca	37	chr8	97172838	97172838	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacgacgaggaggatgagAtggaagcctgctggaaaccg	12	4	17	8	4	0	1	0	1	0	1	0	9	0	6	2	5	3	1	2	5	2	0			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr8:97172838A>G	ENST00000287020.5	-	1	182	c.83T>C	c.(82-84)aTc>aCc	p.I28T		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	28	Poly-Ser.				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)					GGAGGATGAGATGGAAGCCTG	0.642																																						.											0													52	60	57					8																	97172838		2203	4300	6503	SO:0001583	missense	392255				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.83T>C	8.37:g.97172838A>G	ENSP00000287020:p.Ile28Thr		Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734736	0.69189	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	D	0.85013	-1.93	4.34	4.34	0.51931	.	8.071360	0.00639	N	0.000509	D	0.86268	0.5892	N	0.14661	0.345	0.38158	D	0.938942	D	0.69078	0.997	P	0.60789	0.879	T	0.75328	-0.3356	10	0.54805	T	0.06	.	11.0331	0.47785	1.0:0.0:0.0:0.0	.	28	Q6KF10	GDF6_HUMAN	T	28	ENSP00000287020:I28T	ENSP00000287020:I28T	I	-	2	0	GDF6	97242014	1.000000	0.71417	0.992000	0.48379	0.750000	0.42670	7.816000	0.86201	1.585000	0.49928	0.421000	0.28195	ATC		0.642	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		G	97172838	A	G	97172838	3	3	20	1	0	0	0	0	1	0	0	0	6317	333	12	4	1292	4	GDF6	8	97172838	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	70976334	97172838	49191184	28	1519											
FAM120A	23196	broad.mit.edu	37	chr9	96233575	96233576	+	Frame_Shift_Ins	INS	-	-	A																															taaaactgagccggaacgggINSaaaagtctcaccacaagcca																										TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr9:96233575_96233576insA	ENST00000277165.6	+	2	821_822	c.627_628insA	c.(628-630)aaafs	p.K210fs	FAM120A_ENST00000375389.3_Frame_Shift_Ins_p.K210fs|FAM120A_ENST00000340893.4_Frame_Shift_Ins_p.K210fs|FAM120A_ENST00000333936.5_Frame_Shift_Ins_p.K210fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	210						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						GCCGGAACGGGAAAAGTCTCAC	0.46																																						.											0																																										SO:0001589	frameshift_variant	23196			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.631dupA	9.37:g.96233579_96233579dupA	ENSP00000277165:p.Lys210fs		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Frame_Shift_Ins	INS	ENST00000277165.6	37	CCDS6706.1																																																																																				0.46	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		A	96233576	-	A	96233575	7	5	20	1	0	1	1	0	0	0	0	0	5415	1161	41	0	633	0	FAM120A	9	96233575	Frame_Shift_Ins	INS	-	TCGA-KL-8342-01A-11D-2310-10		96233575	44979856	29	1520											
ZCCHC24	219654	ucsc.edu;bcgsc.ca	37	chr10	81205166	81205166	+	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	gggctggtacaccgaggcggCgctcgtgtcgatggccgaca	6	6	17	12	6	0	0	0	0	0	0	2	3	0	0	2	5	1	3	2	5	1	1			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr10:81205166C>T	ENST00000372336.3	-	1	217	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	ZCCHC24_ENST00000372333.3_5'Flank	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	11							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						ACCGAGGCGGCGCTCGTGTCG	0.741																																						.											0													8	9	8					10																	81205166		2142	4227	6369	SO:0001583	missense	219654			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"Zinc fingers, CCHC domain containing"	26911	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 8"		"chromosome 10 open reading frame 56"	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.31G>A	10.37:g.81205166C>T	ENSP00000361411:p.Ala11Thr		Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630355	0.67015	.	.	ENSG00000165424	ENST00000372336	T	0.47177	0.85	3.22	3.22	0.36961	.	.	.	.	.	T	0.29716	0.0742	N	0.17082	0.46	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12889	-1.0530	9	0.49607	T	0.09	-15.0989	8.6306	0.33917	0.0:0.8916:0.0:0.1084	.	11	Q8N2G6	ZCH24_HUMAN	T	11	ENSP00000361411:A11T	ENSP00000361411:A11T	A	-	1	0	ZCCHC24	80875172	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.636000	0.46545	1.645000	0.50612	0.313000	0.20887	GCC		0.741	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		T	81205166	C	T	81205166	3	4	20	1	0	0	0	0	1	0	0	0	17585	768	27	1	710	1	ZCCHC24	10	81205166	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		81205166	54329581	30	1521											
LDB3	11155	broad.mit.edu	37	chr10	88476140	88476140	+	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	attacagtcccactccctacAccccctcccctgcccctgcc	6	8	3	24	0	0	0	0	0	0	0	3	0	3	0	9	0	4	0	9	0	2	2	rs143163993|rs397517209		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr10:88476140A>C	ENST00000361373.4	+	9	1309	c.1288A>C	c.(1288-1290)Acc>Ccc	p.T430P	LDB3_ENST00000263066.6_Missense_Mutation_p.T320P|LDB3_ENST00000429277.2_Missense_Mutation_p.T435P|LDB3_ENST00000458213.2_Missense_Mutation_p.T320P|LDB3_ENST00000352360.5_Missense_Mutation_p.T173P	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						CACTCCCTAcaccccctcccc	0.602																																						.											0													36	35	35					10																	88476140		2203	4300	6503	SO:0001583	missense	11155			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.1288A>C	10.37:g.88476140A>C	ENSP00000355296:p.Thr430Pro			Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	A	4.643	0.119583	0.08881	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.54479	0.81;0.65;0.61;0.65;0.57	2.34	2.34	0.29019	.	0.000000	0.33401	N	0.004943	T	0.39733	0.1089	L	0.47716	1.5	0.35739	D	0.818567	D;B;D;B;B	0.59357	0.985;0.009;0.983;0.006;0.0	B;B;B;B;B	0.42319	0.336;0.009;0.383;0.01;0.0	T	0.46555	-0.9183	10	0.29301	T	0.29	.	6.4634	0.21968	1.0:0.0:0.0:0.0	.	435;367;173;430;320	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	P	435;320;173;320;430	ENSP00000401437:T435P;ENSP00000409148:T320P;ENSP00000263067:T173P;ENSP00000263066:T320P;ENSP00000355296:T430P	ENSP00000263066:T320P	T	+	1	0	LDB3	88466120	0.976000	0.34144	0.833000	0.33012	0.146000	0.21551	2.252000	0.43196	1.055000	0.40461	0.240000	0.17902	ACC		0.602	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			C	88476140	A	C	88476140	3	2	20	1	0	0	0	0	1	0	0	0	8697	159	6	5	1658	5	LDB3	10	88476140	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	7270974	88476140	47058607	31	1522											
MUC6	4588	mdanderson.org	37	chr11	1016684	1016684	+	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	acggtgcctgttggcgttgaGtggatggaggcagaagtggc	7	9	19	6	2	0	2	0	1	0	1	0	4	0	4	1	6	1	3	1	6	1	2			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:1016684G>A	ENST00000421673.2	-	31	6167	c.6117C>T	c.(6115-6117)caC>caT	p.H2039H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2039	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)		TTGGCGTTGAGTGGATGGAGG	0.577																																						.											0													547	509	522					11																	1016684		2203	4294	6497	SO:0001819	synonymous_variant	4588			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.6117C>T	11.37:g.1016684G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016684	G	A	1016684	2	1	20	1	0	0	0	0	0	0	0	1	9980	1020	36	4		4	MUC6	11	1016684	Silent	SNP	G	TCGA-KL-8342-01A-11D-2310-10		1016684	133989832	32	1523											
MUC5B	727897	mdanderson.org	37	chr11	1258240	1258241	+	Missense_Mutation	DNP	CA	CA	TG																															ccggtccgtggtgggggacgCactggagtttgggaacagct																								rs79773885|rs77287508		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:1258240_1258241CA>TG	ENST00000529681.1	+	25	3201_3202	c.3143_3144CA>TG	c.(3142-3144)gCA>gTG	p.A1048V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A1051V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1048	VWFD 3. {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)		GTGGGGGACGCACTGGAGTTTG	0.668																																						.											0																																										SO:0001583	missense	727897			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		Exception_encountered	11.37:g.1258240_1258241delinsTG	ENSP00000436812:p.Ala1048Val		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	DNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.668	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		TG	1258241	CA	TG	1258240	3	4	20	1	0	0	0	0	1	0	0	0	9979	710	25	4	3250	4	MUC5B	11	1258240	Missense_Mutation	DNP	CA	TCGA-KL-8342-01A-11D-2310-10	241556	1258240	133748276	33	1524											
DPAGT1	1798	mdanderson.org	37	chr11	118967931	118967931	+	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	gtagcaagttgatgagggtcAtgttgttacattcagtgaat	11	14	12	4	0	2	3	2	3	0	0	2	3	2	3	0	1	2	5	0	1	4	5			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:118967931A>C	ENST00000409993.2	-	10	2633	c.1082T>G	c.(1081-1083)aTg>aGg	p.M361R	DPAGT1_ENST00000432443.2_Missense_Mutation_p.M254R|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Missense_Mutation_p.M361R			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	361					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GATGAGGGTCATGTTGTTACA	0.502																																						.											0													311	303	306					11																	118967931		2200	4295	6495	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1082T>G	11.37:g.118967931A>C	ENSP00000386597:p.Met361Arg		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884402	0.51908	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91945	-2.94;-2.94;-2.85	5.38	5.38	0.77491	.	0.036633	0.85682	D	0.000000	D	0.92257	0.7544	M	0.84948	2.725	0.80722	D	1	P;B	0.38300	0.626;0.129	B;B	0.35859	0.212;0.206	D	0.93176	0.6570	10	0.87932	D	0	-23.1756	14.3688	0.66826	1.0:0.0:0.0:0.0	.	254;361	E7EW40;Q9H3H5	.;GPT_HUMAN	R	361;361;254	ENSP00000386597:M361R;ENSP00000346142:M361R;ENSP00000404036:M254R	ENSP00000346142:M361R	M	-	2	0	DPAGT1	118473141	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	8.734000	0.91543	2.254000	0.74563	0.533000	0.62120	ATG		0.502	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		C	118967931	A	C	118967931	3	2	20	1	0	0	0	0	1	0	0	0	4710	217	8	5	152	5	DPAGT1	11	118967931	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	117709691	118967931	16038585	34	1525											
DIP2B	57609	broad.mit.edu	37	chr12	51072520	51072520	+	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	cggcagatgacccctgtgaaAggagagcctttaggagtcat	11	8	13	9	1	1	4	1	2	0	2	1	6	1	5	3	3	1	1	3	3	2	2			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:51072520A>G	ENST00000301180.5	+	8	1009	c.975A>G	c.(973-975)aaA>aaG	p.K325K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	325						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						CCCCTGTGAAAGGAGAGCCTT	0.537																																						.											0													81	73	75					12																	51072520		2203	4300	6503	SO:0001819	synonymous_variant	57609			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.975A>G	12.37:g.51072520A>G			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.537	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51072520	A	G	51072520	2	3	20	1	0	0	0	0	0	0	0	1	4528	69	3	2		2	DIP2B	12	51072520	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10		51072520	82779375	35	1526											
ERBB3	2065	hgsc.bcm.edu;mdanderson.org	37	chr12	56491706	56491706	+	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	cctcctgatgataagcagctGctatacagtgaggccaaggt	11	9	11	10	0	0	3	0	3	0	0	1	3	1	3	3	2	4	3	3	2	4	3			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:56491706G>A	ENST00000267101.3	+	21	3038	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	ERBB3_ENST00000553131.1_Silent_p.L107L|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Silent_p.L807L|ERBB3_ENST00000450146.2_Silent_p.L223L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	866	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)			ATAAGCAGCTGCTATACAGTG	0.567																																						.											0													111	94	100					12																	56491706		2203	4300	6503	SO:0001819	synonymous_variant	2065			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.2598G>A	12.37:g.56491706G>A			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																				0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56491706	G	A	56491706	2	1	20	1	0	0	0	0	0	0	0	1	5208	1306	46	4		4	ERBB3	12	56491706	Silent	SNP	G	TCGA-KL-8342-01A-11D-2310-10	5419186	56491706	77360189	36	1527											
GNS	2799	broad.mit.edu	37	chr12	65115476	65115476	+	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	atcttcacatacacagtctgGgaagcattgctgtagggata	12	11	10	8	0	3	0	1	0	2	0	3	2	3	2	0	2	3	3	0	2	4	5			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:65115476G>A	ENST00000258145.3	-	12	1488	c.1318C>T	c.(1318-1320)Cca>Tca	p.P440S	GNS_ENST00000542058.1_Missense_Mutation_p.P420S|GNS_ENST00000543646.1_Missense_Mutation_p.P472S|GNS_ENST00000418919.2_Missense_Mutation_p.P384S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	440					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)		ACACAGTCTGGGAAGCATTGC	0.418																																						.											0													143	120	127					12																	65115476		2203	4300	6503	SO:0001583	missense	2799				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.1318C>T	12.37:g.65115476G>A	ENSP00000258145:p.Pro440Ser		B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.010550|5.010550	0.93346|0.93346	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000540196|ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825	.|T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78861|0.78861	0.4350|0.4350	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.89917	.|0.883;1.0;0.885;0.981	.|P;D;P;P	.|0.81914	.|0.718;0.995;0.688;0.871	T|T	0.76242|0.76242	-0.3031|-0.3031	6|9	.|.	.|.	.|.	-15.0115|-15.0115	20.2469|20.2469	0.98398|0.98398	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|420;472;440;384	.|B4DYH8;F6S8M0;P15586;Q7Z3X3	.|.;.;GNS_HUMAN;.	L|S	225|384;440;472;420;357	.|ENSP00000413130:P384S;ENSP00000258145:P440S;ENSP00000438497:P472S;ENSP00000444819:P420S	.|.	P|P	-|-	2|1	0|0	GNS|GNS	63401743|63401743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	9.725000|9.725000	0.98778|0.98778	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.418	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			A	65115476	G	A	65115476	3	1	20	1	0	0	0	0	1	0	0	0	6550	1232	43	3	352	3	GNS	12	65115476	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	8623770	65115476	68736419	37	1528											
PHLDA1	22822	hgsc.bcm.edu	37	chr12	76424940	76424940	+	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	tgctgctgctgctgctgttgCtgctgctgctgctggtgttg	0	16	15	10	0	0	0	0	0	0	0	0	0	0	0	0	1	10	12	0	1	0	2	rs549868413|rs57875368|rs111754051|rs71716769|rs80344196|rs398020175	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:76424940C>T	ENST00000266671.5	-	1	2772	c.582G>A	c.(580-582)caG>caA	p.Q194Q	RP11-290L1.2_ENST00000547721.1_RNA|PHLDA1_ENST00000602540.1_Silent_p.Q53Q|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	194	PH.|Poly-Gln.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gctgctgttgctgctgctgct	0.652																																						.											0													4	4	4					12																	76424940		2019	3942	5961	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.582G>A	12.37:g.76424940C>T			A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	ENST00000266671.5	37	CCDS31861.1																																																																																				0.652	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		T	76424940	C	T	76424940	2	4	20	1	0	0	0	0	0	0	0	1	11848	796	28	4		4	PHLDA1	12	76424940	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	11309464	76424940	57426955	38	1529											
NAA30	122830	broad.mit.edu	37	chr14	57863498	57863498	+	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	aggggaggagtgtgtaggtgCcatcgtttgcaagttggata	9	11	17	4	1	0	0	0	0	0	0	1	3	0	3	1	5	2	4	1	5	3	4	rs369695420		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr14:57863498C>T	ENST00000556492.1	+	3	954	c.800C>T	c.(799-801)gCc>gTc	p.A267V	NAA30_ENST00000554703.1_Missense_Mutation_p.A9V|NAA30_ENST00000555166.1_Missense_Mutation_p.A9V	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	267	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TGTGTAGGTGCCATCGTTTGC	0.413																																						.											0													237	207	217					14																	57863498		2203	4300	6503	SO:0001583	missense	122830			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.800C>T	14.37:g.57863498C>T	ENSP00000452521:p.Ala267Val		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.987974|2.987974	0.53934|0.53934	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000555166;ENST00000556492;ENST00000554703;ENST00000395257|ENST00000298406	T;T;T|.	0.23147|.	1.92;1.92;1.92|.	5.89|5.89	5.89|5.89	0.94794|0.94794	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49898|0.49898	0.1584|0.1584	N|N	0.11201|0.11201	0.11|0.11	0.80722|0.80722	D|D	1|1	B|.	0.20052|.	0.041|.	B|.	0.28139|.	0.086|.	T|T	0.43261|0.43261	-0.9402|-0.9402	10|5	0.22109|.	T|.	0.4|.	-2.6585|-2.6585	20.2618|20.2618	0.98447|0.98447	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	267|.	Q147X3|.	NAA30_HUMAN|.	V|S	9;267;9;230|79	ENSP00000450939:A9V;ENSP00000452521:A267V;ENSP00000451255:A9V|.	ENSP00000298406:A267V|.	A|P	+|+	2|1	0|0	NAA30|NAA30	56933251|56933251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.814000|7.814000	0.86154|0.86154	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.413	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		T	57863498	C	T	57863498	3	4	20	1	0	0	0	0	1	0	0	0	10122	739	26	3	806	3	NAA30	14	57863498	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		57863498	49486042	39	1530											
FMN1	342184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	33359287	33359287	+	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	aagttggaatgacttctctcCagagacttcttttttagaag	11	15	8	7	0	2	3	0	1	2	2	4	5	3	4	1	1	0	1	1	1	4	6			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:33359287C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.G267R|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.G267R			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GACTTCTCTCCAGAGACTTCT	0.493																																						.											0													76	78	77					15																	33359287		1888	4134	6022	SO:0001627	intron_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2012G>A	15.37:g.33359287C>T			Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136600	0.37728	.	.	ENSG00000248905	ENST00000334528	T	0.40225	1.04	5.59	5.59	0.84812	.	.	.	.	.	T	0.46521	0.1397	.	.	.	.	.	.	D;D	0.56746	0.977;0.96	P;P	0.56648	0.803;0.509	T	0.51052	-0.8754	7	0.18710	T	0.47	.	9.5269	0.39169	0.0:0.8054:0.0:0.1946	.	267;267	Q68DA7-3;Q68DA7-5	.;.	R	267	ENSP00000333950:G267R	ENSP00000333950:G267R	G	-	1	0	FMN1	31146579	0.427000	0.25514	0.990000	0.47175	0.797000	0.45037	2.091000	0.41691	2.645000	0.89757	0.655000	0.94253	GGA		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		T	33359287	C	T	33359287	1	4	20	0	1	0	0	0	0	0	0	0	5949	603	21	4		4	FMN1	15	33359287	Intron	SNP	C	TCGA-KL-8342-01A-11D-2310-10		33359287	69172105	40	1531											
WDR72	256764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	53997272	53997272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccatcttcacagccacAtattagtttatcaagacttg	11	14	5	11	0	3	1	2	0	1	1	4	1	4	1	2	0	1	1	2	0	4	6			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:53997272A>G	ENST00000396328.1	-	11	1500	c.1261T>C	c.(1261-1263)Tgt>Cgt	p.C421R	WDR72_ENST00000559418.1_Missense_Mutation_p.C431R|WDR72_ENST00000557913.1_Missense_Mutation_p.C418R|WDR72_ENST00000360509.5_Missense_Mutation_p.C421R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	421										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCACAGCCACATATTAGTTTA	0.393																																						.											0													130	130	130					15																	53997272		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1261T>C	15.37:g.53997272A>G	ENSP00000379619:p.Cys421Arg		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872904	0.72180	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.17054	2.3;2.3	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.42430	-0.9452	10	0.87932	D	0	.	15.0651	0.71986	1.0:0.0:0.0:0.0	.	421	Q3MJ13	WDR72_HUMAN	R	421	ENSP00000379619:C421R;ENSP00000353699:C421R	ENSP00000353699:C421R	C	-	1	0	WDR72	51784564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.176000	0.77643	2.158000	0.67659	0.377000	0.23210	TGT		0.393	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		G	53997272	A	G	53997272	3	3	20	1	0	0	0	0	1	0	0	0	17319	217	8	4	2087	4	WDR72	15	53997272	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	20637985	53997272	48534120	41	1532											
VPS13C	54832	broad.mit.edu	37	chr15	62243167	62243167	+	Frame_Shift_Del	DEL	G	G	-																															tgtcagtaacattttcagaaGgggttcgtcagtcacattag																										TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:62243167delG	ENST00000261517.5	-	40	4586	c.4513delC	c.(4513-4515)cttfs	p.L1506fs	VPS13C_ENST00000249837.3_Frame_Shift_Del_p.L1463fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.L1506fs|VPS13C_ENST00000395898.3_Frame_Shift_Del_p.L1463fs	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						ATTTTCAGAAGGGGTTCGTCA	0.289																																						.											0													46	46	46					15																	62243167		2202	4295	6497	SO:0001589	frameshift_variant	54832			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.4513delC	15.37:g.62243167delG	ENSP00000261517:p.Leu1506fs			Frame_Shift_Del	DEL	ENST00000261517.5	37	CCDS32257.1																																																																																				0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		-	62243167	G	-	62243167	7	5	20	1	0	1	0	1	0	0	0	0	17188	1000	35	0	6960	0	VPS13C	15	62243167	Frame_Shift_Del	DEL	G	TCGA-KL-8342-01A-11D-2310-10	8245895	62243167	40288225	42	1533											
C15orf39	56905	broad.mit.edu	37	chr15	75503149	75503149	+	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	agcccactgtggccagaggtGagccagagagcctagccctg	9	5	14	13	0	0	3	0	1	0	2	0	4	0	3	5	2	4	0	5	2	1	1			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:75503149G>A	ENST00000360639.2	+	3	3156	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	C15orf39_ENST00000567617.1_3'UTR|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000394987.4_Missense_Mutation_p.E946K			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	946						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCAGAGGTGAGCCAGAGAG	0.617																																						.											0													59	55	56					15																	75503149		2197	4295	6492	SO:0001583	missense	56905			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2836G>A	15.37:g.75503149G>A	ENSP00000353854:p.Glu946Lys		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726790	0.48833	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.20881	2.04;2.04	4.24	3.32	0.38043	.	0.152597	0.42548	D	0.000685	T	0.30696	0.0773	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.03981	-1.0987	10	0.87932	D	0	-18.6968	8.1981	0.31409	0.111:0.0:0.889:0.0	.	946	Q6ZRI6	CO039_HUMAN	K	946;946;344	ENSP00000353854:E946K;ENSP00000378438:E946K	ENSP00000353854:E946K	E	+	1	0	C15orf39	73290202	0.978000	0.34361	0.582000	0.28627	0.232000	0.25224	1.964000	0.40462	1.135000	0.42183	0.462000	0.41574	GAG		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		A	75503149	G	A	75503149	3	1	20	1	0	0	0	0	1	0	0	0	1793	1291	45	4	2842	4	C15orf39	15	75503149	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	13259982	75503149	27028243	43	1534											
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79058942	79058944	+	In_Frame_Del	DEL	GCA	GCA	-																															cggggctacccgtggagggcGcagcaggatggctgtgtggt																								rs529497330|rs201562030|rs543268667	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:79058942_79058944delGCA	ENST00000388820.4	-	19	3519_3521	c.3309_3311delTGC	c.(3307-3312)gctgcg>gcg	p.1103_1104AA>A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1103					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGTGGAGGGCGCAGCAGGATGGC	0.675																																						.											0																																										SO:0001651	inframe_deletion	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3309_3311delTGC	15.37:g.79058945_79058947delGCA	ENSP00000373472:p.Ala1104del		Q14F51|Q6P7J9	In_Frame_Del	DEL	ENST00000388820.4	37	CCDS32303.1																																																																																				0.675	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		-	79058944	GCA	-	79058942	7	5	20	1	0	1	0	1	0	0	0	0	271	1087	38	0	1773	0	ADAMTS7	15	79058942	In_Frame_Del	DEL	GCA	TCGA-KL-8342-01A-11D-2310-10	3555793	79058942	23472450	44	1535											
ADAMTS17	170691	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr15	100672306	100672306	+	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	ccacgggctccagtctccgtCcacatgctccgggatgggcg	5	7	13	16	4	1	0	0	0	1	0	5	1	4	1	5	3	1	2	5	3	0	0			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:100672306C>T	ENST00000268070.4	-	12	1732	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	543	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)		CAGTCTCCGTCCACATGCTCC	0.667											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													35	37	36					15																	100672306		2203	4300	6503	SO:0001583	missense	170691			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.1627G>A	15.37:g.100672306C>T	ENSP00000268070:p.Asp543Asn	1353	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649654	0.87958	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.20069	2.1	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	L	0.45581	1.43	0.80722	D	1	P;D	0.59767	0.731;0.986	B;P	0.53266	0.371;0.722	T	0.02301	-1.1180	10	0.48119	T	0.1	.	18.8106	0.92056	0.0:1.0:0.0:0.0	.	300;543	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	N	543;300	ENSP00000268070:D543N	ENSP00000268070:D543N	D	-	1	0	ADAMTS17	98489829	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	7.194000	0.77789	2.423000	0.82170	0.561000	0.74099	GAC		0.667	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		T	100672306	C	T	100672306	3	4	20	1	0	0	0	0	1	0	0	0	262	855	30	3	1704	3	ADAMTS17	15	100672306	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	21613364	100672306	1859086	45	1536											
TSC2	7249	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	2129290	2129290	+	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	cttctaggtctcctgtgggcGagttcctcctagcgggtggc	3	12	14	12	2	2	0	0	0	2	0	5	1	4	0	3	4	1	1	3	4	2	4			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:2129290G>A	ENST00000219476.3	+	28	3775	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TSC2_ENST00000350773.4_Missense_Mutation_p.E1049K|TSC2_ENST00000568454.1_Missense_Mutation_p.E1016K|TSC2_ENST00000401874.2_Missense_Mutation_p.E1005K|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Missense_Mutation_p.E969K|TSC2_ENST00000382538.6_Missense_Mutation_p.E957K|TSC2_ENST00000353929.4_Missense_Mutation_p.E1006K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1049					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)				TCCTGTGGGCGAGTTCCTCCT	0.637			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													90	79	83					16																	2129290		2197	4300	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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.3145G>A	16.37:g.2129290G>A	ENSP00000219476:p.Glu1049Lys		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570729	0.86542	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.92048	-2.74;-2.89;-2.96;-2.95;-2.71	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	L	0.58583	1.82	0.80722	D	1	D;P;D;D;D;D	0.89917	0.998;0.882;0.999;0.999;1.0;0.997	P;B;D;D;D;D	0.71414	0.905;0.411;0.956;0.956;0.973;0.955	D	0.95539	0.8610	10	0.72032	D	0.01	-28.7175	18.0348	0.89296	0.0:0.0:1.0:0.0	.	957;969;1049;1005;1005;1049	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	K	1049;1006;1006;969;957;1049	ENSP00000219476:E1049K;ENSP00000248099:E1006K;ENSP00000399232:E969K;ENSP00000371978:E957K;ENSP00000344383:E1049K	ENSP00000219476:E1049K	E	+	1	0	TSC2	2069291	1.000000	0.71417	0.971000	0.41717	0.695000	0.40330	7.616000	0.83018	2.339000	0.79563	0.561000	0.74099	GAG		0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2129290	G	A	2129290	3	1	20	1	0	0	0	0	1	0	0	0	16603	1059	37	1	3251	1	TSC2	16	2129290	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10		2129290	88225463	46	1537											
CPPED1	55313	mdanderson.org	37	chr16	12875238	12875238	+	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	cccaggatgaagtagaatggGcctttccattcgctttcctt	8	13	9	11	1	0	2	0	1	0	1	3	3	2	3	4	2	0	2	4	2	3	5			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:12875238G>A	ENST00000381774.4	-	2	333	c.93C>T	c.(91-93)ggC>ggT	p.G31G	CPPED1_ENST00000261660.4_Silent_p.G31G|CPPED1_ENST00000433677.2_Silent_p.G31G	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	31						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						AGTAGAATGGGCCTTTCCATT	0.478																																						.											0													65	64	64					16																	12875238		1929	4120	6049	SO:0001819	synonymous_variant	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.93C>T	16.37:g.12875238G>A			B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	CCDS42120.1																																																																																				0.478	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		A	12875238	G	A	12875238	2	1	20	1	0	0	0	0	0	0	0	1	3822	1190	42	3		3	CPPED1	16	12875238	Silent	SNP	G	TCGA-KL-8342-01A-11D-2310-10	10745948	12875238	77479515	47	1538											
ERCC4	2072	broad.mit.edu	37	chr16	14041897	14041897	+	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	aacggcggagttgtttgaggAgctgaaacaaagcaagccac	14	6	13	8	2	0	2	0	2	0	0	0	4	0	4	1	3	5	4	1	3	4	2			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:14041897A>T	ENST00000311895.7	+	11	2453	c.2444A>T	c.(2443-2445)gAg>gTg	p.E815V		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	815					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTGTTTGAGGAGCTGAAACAA	0.507			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													.	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													50	49	49					16																	14041897		2197	4300	6497	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2444A>T	16.37:g.14041897A>T	ENSP00000310520:p.Glu815Val		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897569	0.91962	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.29142	1.58	6.16	5.07	0.68467	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	0.094649	0.64402	D	0.000001	T	0.54062	0.1835	M	0.81179	2.53	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.57785	-0.7751	10	0.56958	D	0.05	-24.7225	11.8141	0.52199	0.932:0.0:0.068:0.0	.	815	Q92889	XPF_HUMAN	V	815;803	ENSP00000310520:E815V	ENSP00000310520:E815V	E	+	2	0	ERCC4	13949398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.925000	0.75829	1.143000	0.42306	0.528000	0.53228	GAG		0.507	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		T	14041897	A	T	14041897	3	4	20	1	0	0	0	0	1	0	0	0	5215	304	11	5	2486	5	ERCC4	16	14041897	Missense_Mutation	SNP	A	TCGA-KL-8342-01A-11D-2310-10	1166659	14041897	76312856	48	1539											
ERN2	10595	broad.mit.edu	37	chr16	23716452	23716452	+	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	agcaggcccatcccgcaggaCgccaggtggctcatgtctgc	7	6	13	15	2	2	0	1	0	1	0	3	1	3	1	3	4	2	3	3	4	0	0	rs373918514		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:23716452C>T	ENST00000457008.2	-	8	644	c.606G>A	c.(604-606)gcG>gcA	p.A202A	ERN2_ENST00000256797.4_Silent_p.A250A					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCCGCAGGACGCCAGGTGGC	0.642																																						.											0								C		0,4394		0,0,2197	42	41	41		750	-6.7	1	16		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERN2	NM_033266.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		250/975	23716452	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.606G>A	16.37:g.23716452C>T				Silent	SNP	ENST00000457008.2	37																																																																																					0.642	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			T	23716452	C	T	23716452	2	4	20	1	0	0	0	0	0	0	0	1	5238	523	19	1		1	ERN2	16	23716452	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	9674555	23716452	66638301	49	1540											
SLC9A5	6553	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	67293560	67293560	+	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	cagaaacttctgtcaccaacCtgctgtgagtccttgagccc	9	10	8	14	0	2	3	1	2	1	1	3	3	3	3	4	0	4	1	4	0	2	2	rs575139681		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:67293560C>A	ENST00000299798.11	+	11	1776	c.1711C>A	c.(1711-1713)Ctg>Atg	p.L571M	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	571					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGTCACCAACCTGCTGTGAGT	0.547																																						.											0													78	81	80					16																	67293560		2064	4212	6276	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1711C>A	16.37:g.67293560C>A	ENSP00000299798:p.Leu571Met		A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.325050	0.60634	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.59083	0.29	4.82	3.87	0.44632	.	0.379430	0.25040	N	0.033618	T	0.66790	0.2825	L	0.50333	1.59	0.38161	D	0.939038	D;P	0.71674	0.998;0.94	D;P	0.63381	0.914;0.459	T	0.71666	-0.4524	10	0.56958	D	0.05	.	12.565	0.56304	0.0:0.9194:0.0:0.0806	.	59;571	F8WDV9;Q14940	.;SL9A5_HUMAN	M	571;59	ENSP00000299798:L571M	ENSP00000299798:L571M	L	+	1	2	SLC9A5	65851061	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.945000	0.49043	1.408000	0.46895	-0.379000	0.06801	CTG		0.547	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			A	67293560	C	A	67293560	3	1	20	1	0	0	0	0	1	0	0	0	14717	680	24	5	1753	5	SLC9A5	16	67293560	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	43577108	67293560	23061193	50	1541											
HYDIN	54768	mdanderson.org	37	chr16	71163579	71163579	+	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	aaaacgttattgaagaacagCttgctgtctccctgcaccag	12	10	8	11	1	1	2	0	1	1	1	2	2	1	2	2	0	5	4	2	0	5	3	rs929311	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:71163579C>T	ENST00000393567.2	-	9	1341	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	HYDIN_ENST00000393550.2_Silent_p.K397K|HYDIN_ENST00000541601.1_Silent_p.K414K|HYDIN_ENST00000448691.1_Silent_p.K397K|HYDIN_ENST00000288168.10_Silent_p.K414K|HYDIN_ENST00000321489.5_Silent_p.K397K|HYDIN_ENST00000448089.2_Silent_p.K397K|HYDIN_ENST00000538248.1_Silent_p.K424K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	397					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)				TGAAGAACAGCTTGCTGTCTC	0.453																																						.											0													62	60	61					16																	71163579		2198	4300	6498	SO:0001819	synonymous_variant	54768			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.1191G>A	16.37:g.71163579C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.453	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71163579	C	T	71163579	2	4	20	1	0	0	0	0	0	0	0	1	7467	796	28	4		4	HYDIN	16	71163579	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	3870019	71163579	19191174	51	1542											
SOCS7	30837	ucsc.edu	37	chr17	36552111	36552111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcacagacctctgatcTcttatatccgaaagttctac	10	16	4	11	1	4	2	1	1	3	1	6	3	5	2	2	0	1	1	2	0	4	6			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:36552111T>C	ENST00000577233.1	+	9	1636	c.1636T>C	c.(1636-1638)Tct>Cct	p.S546P	SOCS7_ENST00000331159.5_Missense_Mutation_p.S512P	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	546	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				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)					ACCTCTGATCTCTTATATCCG	0.383																																						.											0													56	58	57					17																	36552111		2203	4300	6503	SO:0001583	missense	30837			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.1636T>C	17.37:g.36552111T>C	ENSP00000464034:p.Ser546Pro		A2VCU2|Q0IJ63	Missense_Mutation	SNP	ENST00000577233.1	37	CCDS32637.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674151	0.29693	.	.	ENSG00000174111	ENST00000331159	T	0.47177	0.85	5.93	4.85	0.62838	SOCS protein, C-terminal (4);	0.317412	0.30365	N	0.009799	T	0.58666	0.2138	L	0.58810	1.83	0.44816	D	0.99782	P;D	0.61697	0.773;0.99	P;P	0.60117	0.53;0.869	T	0.56798	-0.7919	10	0.39692	T	0.17	-10.0184	11.323	0.49433	0.1436:0.0:0.0:0.8564	.	262;546	B5MDS8;O14512	.;SOCS7_HUMAN	P	546	ENSP00000330659:S546P	ENSP00000330659:S546P	S	+	1	0	SOCS7	33805637	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.120000	0.41968	1.050000	0.40346	0.533000	0.62120	TCT		0.383	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		C	36552111	T	C	36552111	3	2	20	1	0	0	0	0	1	0	0	0	14919	1551	54	2	1670	2	SOCS7	17	36552111	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10		36552111	44643099	52	1543											
KRT17	3872	mdanderson.org	37	chr17	39775939	39775939	+	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	cgcacctgacgggtggtcacCgctgcaggagaagcaggcaa	10	4	15	12	3	1	2	1	1	0	1	1	3	1	2	2	4	2	5	2	4	2	0			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:39775939C>T	ENST00000311208.8	-	8	1273	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	JUP_ENST00000540235.1_Splice_Site_p.P561P	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	402	Tail.			LTQYKKEPVT -> FRMSESSPVS (in Ref. 4; AC022596). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGGTGGTCACCGCTGCAGGAG	0.627																																					Pancreas(92;1242 2086 39193 50508)	.											0													67	65	66					17																	39775939		2203	4300	6503	SO:0001630	splice_region_variant	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1205-1G>A	17.37:g.39775939C>T			A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																				0.627	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	Silent	T	39775939	C	T	39775939	5	4	20	1	0	0	0	0	0	0	1	0	8454	666	23	1	96	1	KRT17	17	39775939	Splice_Site	SNP	C	TCGA-KL-8342-01A-11D-2310-10	3223828	39775939	41419271	53	1544											
BECN1	8678	broad.mit.edu	37	chr17	40970314	40970314	+	Missense_Mutation	SNP	T	T	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	ctgccactatcttgcggttcTtttccacgtcttccagctcc	4	15	6	16	2	3	0	0	0	3	0	6	0	6	0	4	1	3	2	4	1	1	6			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:40970314T>C	ENST00000361523.4	-	7	740	c.608A>G	c.(607-609)aAg>aGg	p.K203R	BECN1_ENST00000590099.1_Missense_Mutation_p.K203R|BECN1_ENST00000438274.3_Missense_Mutation_p.K127R	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	203					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTGCGGTTCTTTTCCACGTC	0.507																																						.											0													229	209	216					17																	40970314		2203	4300	6503	SO:0001583	missense	8678			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.608A>G	17.37:g.40970314T>C	ENSP00000355231:p.Lys203Arg		B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618875	0.28801	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.46451	0.87;2.47	6.03	4.96	0.65561	.	0.204155	0.52532	N	0.000063	T	0.31071	0.0785	L	0.39147	1.195	0.20074	N	0.999932	B;B	0.14438	0.01;0.002	B;B	0.19666	0.026;0.016	T	0.23833	-1.0177	10	0.13853	T	0.58	.	9.0798	0.36545	0.0:0.1392:0.0:0.8608	.	127;203	E7EV84;Q14457	.;BECN1_HUMAN	R	203;127;116	ENSP00000355231:K203R;ENSP00000416173:K127R	ENSP00000355231:K203R	K	-	2	0	BECN1	38223840	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	2.320000	0.43797	1.109000	0.41680	0.533000	0.62120	AAG		0.507	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		C	40970314	T	C	40970314	3	2	20	1	0	0	0	0	1	0	0	0	1396	1609	56	2	768	2	BECN1	17	40970314	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10	1194375	40970314	40224896	54	1545											
PLEKHM1	9842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	43531447	43531447	+	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	gaccagctcaaagcgcccatCactatgggctggccccacag	10	5	10	16	1	2	0	2	0	0	0	2	1	2	0	4	2	2	2	4	2	2	1			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:43531447C>G	ENST00000430334.3	-	7	1904	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.D502H|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	591	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					AAGCGCCCATCACTATGGGCT	0.647																																						.											0													48	45	46					17																	43531447		2203	4300	6503	SO:0001583	missense	9842			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.1771G>C	17.37:g.43531447C>G	ENSP00000389913:p.Asp591His		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768899	0.49680	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.32515	1.45;1.45	4.8	4.8	0.61643	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.105214	0.64402	D	0.000005	T	0.44891	0.1315	L	0.29908	0.895	0.47737	D	0.999506	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.44832	-0.9302	10	0.72032	D	0.01	.	16.6534	0.85222	0.0:1.0:0.0:0.0	.	502;540;591	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	H	591;540;502	ENSP00000389913:D591H;ENSP00000414352:D502H	ENSP00000414352:D502H	D	-	1	0	PLEKHM1	40887230	1.000000	0.71417	0.804000	0.32291	0.044000	0.14063	7.240000	0.78192	2.514000	0.84764	0.586000	0.80456	GAT		0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		G	43531447	C	G	43531447	3	3	20	1	0	0	0	0	1	0	0	0	12080	826	29	5	1423	5	PLEKHM1	17	43531447	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10	2561133	43531447	37663763	55	1546											
MADCAM1	8174	mdanderson.org	37	chr19	501786	501786	+	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	gcctcccgacaccacctcccCggagcctcccgacaagacct	8	4	7	22	3	0	1	0	0	0	1	3	4	3	2	9	1	1	0	9	1	1	0	rs77264553	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:501786C>A	ENST00000215637.3	+	4	831	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P43Q|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	262	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCCGGAGCCTCCC	0.726																																						.											0													21	23	22					19																	501786		2174	4254	6428	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.785C>A	19.37:g.501786C>A	ENSP00000215637:p.Pro262Gln		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	9.375	1.071453	0.20147	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.12147	2.71	3.07	-3.57	0.04612	.	3.584140	0.00988	N	0.003486	T	0.04907	0.0132	N	0.03608	-0.345	0.80722	P	0.0	B	0.33073	0.396	B	0.12837	0.008	T	0.24584	-1.0156	9	0.72032	D	0.01	.	3.8366	0.08897	0.3193:0.4698:0.0:0.2109	.	262	Q13477	MADCA_HUMAN	Q	286;278;270;262	ENSP00000215637:P262Q	ENSP00000215637:P262Q	P	+	2	0	MADCAM1	452786	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.770000	0.04705	-0.633000	0.05545	-0.962000	0.02626	CCG		0.726	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	501786	C	A	501786	3	1	20	1	0	0	0	0	1	0	0	0	9151	652	23	5	799	5	MADCAM1	19	501786	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		501786	58627197	56	1547											
COL5A3	50509	broad.mit.edu	37	chr19	10091506	10091506	+	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	gggcctggttgccctgtggcAcccggttgccccctctctcc	1	10	12	18	1	1	0	0	0	1	0	3	0	2	0	6	4	2	3	6	4	0	2			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:10091506A>C	ENST00000264828.3	-	34	2620	c.2535T>G	c.(2533-2535)ggT>ggG	p.G845G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	845	Collagen-like 3.|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)			GCCCTGTGGCACCCGGTTGCC	0.582																																						.											0													28	28	28					19																	10091506		2203	4300	6503	SO:0001819	synonymous_variant	50509			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.2535T>G	19.37:g.10091506A>C			Q9NZQ6	Silent	SNP	ENST00000264828.3	37	CCDS12222.1																																																																																				0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		C	10091506	A	C	10091506	2	2	20	1	0	0	0	0	0	0	0	1	3698	146	6	5		5	COL5A3	19	10091506	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10	9589720	10091506	49037477	57	1548											
LRFN3	79414	broad.mit.edu	37	chr19	36430411	36430412	+	Frame_Shift_Ins	INS	-	-	C																															cagccacacccagcccatgtINSccccgccgctgccgctgcca																										TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:36430411_36430412insC	ENST00000588831.1	+	3	1138_1139	c.84_85insC	c.(85-87)cccfs	p.P29fs	LRFN3_ENST00000246529.3_Frame_Shift_Ins_p.P29fs			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	29	LRRNT.				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)			CCAGCCCATGTCCCCGCCGCTG	0.723																																						.											0																																										SO:0001589	frameshift_variant	79414			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.88dupC	19.37:g.36430415_36430415dupC	ENSP00000466989:p.Pro29fs		Q6UY10	Frame_Shift_Ins	INS	ENST00000588831.1	37	CCDS12483.1																																																																																				0.723	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		C	36430412	-	C	36430411	7	5	20	1	0	1	1	0	0	0	0	0	8939	1673	58	0	86	0	LRFN3	19	36430411	Frame_Shift_Ins	INS	-	TCGA-KL-8342-01A-11D-2310-10	26338905	36430411	22698572	58	1549											
FCGBP	8857	mdanderson.org	37	chr19	40376900	40376900	+	Missense_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	tgtcgctggggatacagcccGcgctccccggcgggcaggtg	4	6	17	14	5	0	0	0	0	0	0	2	1	1	1	3	5	2	3	3	5	1	1	rs149109818	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:40376900G>T	ENST00000221347.6	-	24	11529	c.11522C>A	c.(11521-11523)gCg>gAg	p.A3841E	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3841	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.			A -> E (in Ref. 1; BAA19526). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)		p.A3841E(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)			GATACAGCCCGCGCTCCCCGG	0.672													t|||	71	0.0141773	0.0197	0.0058	5008	,	,		11441	0.006		0.005	False		,,,				2504	0.0307					.											1	Substitution - Missense(1)	skin(1)											30	31	30					19																	40376900		2165	4277	6442	SO:0001583	missense	8857			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.11522C>A	19.37:g.40376900G>T	ENSP00000221347:p.Ala3841Glu		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	t	0.022	-1.412467	0.01145	.	.	ENSG00000090920	ENST00000221347	T	0.20738	2.05	3.75	2.7	0.31948	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.05181	0.0138	N	0.01250	-0.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	9	0.02654	T	1	.	4.1512	0.10238	0.0:0.1831:0.3633:0.4536	.	3841	Q9Y6R7	FCGBP_HUMAN	E	3841	ENSP00000221347:A3841E	ENSP00000221347:A3841E	A	-	2	0	FCGBP	45068740	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.853000	0.01666	0.007000	0.14760	-0.824000	0.03097	GCG		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40376900	G	T	40376900	3	4	20	1	0	0	0	0	1	0	0	0	5778	1087	38	5	4747	5	FCGBP	19	40376900	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	3946489	40376900	18752083	59	1550											
DMWD	1762	broad.mit.edu	37	chr19	46289153	46289154	+	Frame_Shift_Ins	INS	-	-	G																															gtgctccttctctgccccccINSggtcccgccgctcctgcagt																										TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:46289153_46289154insG	ENST00000270223.6	-	3	1645_1646	c.1600_1601insC	c.(1600-1602)cggfs	p.R534fs	DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_Frame_Shift_Ins_p.G27fs|DMWD_ENST00000377735.3_Frame_Shift_Ins_p.R534fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	534										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)		CTCTGCCCCCCGGTCCCGCCGC	0.713																																						.											0																																										SO:0001589	frameshift_variant	1762			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.1601dupC	19.37:g.46289155_46289155dupG	ENSP00000270223:p.Arg534fs			Frame_Shift_Ins	INS	ENST00000270223.6	37	CCDS33054.1																																																																																				0.713	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		G	46289154	-	G	46289153	7	5	20	1	0	1	1	0	0	0	0	0	4593	652	23	0	435	0	DMWD	19	46289153	Frame_Shift_Ins	INS	-	TCGA-KL-8342-01A-11D-2310-10	5912253	46289153	12839830	60	1551											
ATP5E	514	broad.mit.edu	37	chr20	57605434	57605434	+	Missense_Mutation	SNP	T	T	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	catttgctttgaattctgtcTtcagtgcatctctcactgct	6	18	6	11	0	5	1	2	1	3	0	6	1	5	1	0	0	3	3	0	0	1	4			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr20:57605434T>C	ENST00000243997.3	-	2	213	c.83A>G	c.(82-84)aAg>aGg	p.K28R	ATP5E_ENST00000395659.1_Missense_Mutation_p.K28R|ATP5E_ENST00000395663.1_Missense_Mutation_p.K28R	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	28					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)	mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			GAATTCTGTCTTCAGTGCATC	0.373																																						.											0													100	95	97					20																	57605434		2203	4300	6503	SO:0001583	missense	514			AF077045	CCDS13476.1	20q13.3	2012-10-12			ENSG00000124172	ENSG00000124172		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	838	protein-coding gene	gene with protein product		606153				10727396	Standard	NM_006886		Approved		uc002yal.3	P56381	OTTHUMG00000032854	ENST00000243997.3:c.83A>G	20.37:g.57605434T>C	ENSP00000243997:p.Lys28Arg		B2RDD0|E1P5H6|Q53XU6	Missense_Mutation	SNP	ENST00000243997.3	37	CCDS13476.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681721	0.88542	.	.	ENSG00000124172	ENST00000243997;ENST00000395663;ENST00000395659	D;D;D	0.86164	-2.08;-2.08;-2.08	5.54	5.54	0.83059	.	0.000000	0.64402	U	0.000010	D	0.83667	0.5304	.	.	.	0.45806	D	0.998684	B	0.29936	0.262	B	0.31812	0.136	T	0.81720	-0.0804	9	0.40728	T	0.16	.	14.8524	0.70306	0.0:0.0:0.0:1.0	.	28	P56381	ATP5E_HUMAN	R	28	ENSP00000243997:K28R;ENSP00000379023:K28R;ENSP00000379019:K28R	ENSP00000243997:K28R	K	-	2	0	ATP5E	57038829	1.000000	0.71417	0.520000	0.27837	0.967000	0.64934	5.804000	0.69135	2.095000	0.63458	0.460000	0.39030	AAG		0.373	ATP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079894.2	NM_001001977		C	57605434	T	C	57605434	3	2	20	1	0	0	0	0	1	0	0	0	1151	1609	56	2	76	2	ATP5E	20	57605434	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10		57605434	5420086	61	1552											
TMPRSS15	5651	broad.mit.edu	37	chr21	19751610	19751610	+	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	taaaactgacctggagttgcCagatgactggtggttgttag	10	12	13	6	0	0	3	0	2	0	1	0	4	0	4	2	3	2	3	2	3	3	4			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr21:19751610C>T	ENST00000284885.3	-	5	555	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	174						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						CTGGAGTTGCCAGATGACTGG	0.274																																						.											0													5	5	5					21																	19751610		1067	2113	3180	SO:0001819	synonymous_variant	5651				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.522G>A	21.37:g.19751610C>T			Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.274	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19751610	C	T	19751610	2	4	20	1	0	0	0	0	0	0	0	1	16243	581	21	4		4	TMPRSS15	21	19751610	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10		19751610	28378285	62	1553											
C21orf29	54084	ucsc.edu	37	chr21	45919681	45919681	+	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	cggcctcagcgtgtcctcagCcgcaggaccctggagagggg	6	5	16	14	3	2	1	2	0	0	1	3	3	3	2	4	5	2	1	4	5	0	0			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr21:45919681C>T	ENST00000323084.4	-	12	2060	c.1995G>A	c.(1993-1995)cgG>cgA	p.R665R		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	665					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTGTCCTCAGCCGCAGGACCC	0.706																																						.											0													13	14	14					21																	45919681		2175	4272	6447	SO:0001819	synonymous_variant	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1995G>A	21.37:g.45919681C>T				Silent	SNP	ENST00000323084.4	37	CCDS13712.1																																																																																				0.706	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45919681	C	T	45919681	2	4	20	1	0	0	0	0	0	0	0	1	2124	726	26	3		3	C21orf29	21	45919681	Silent	SNP	C	TCGA-KL-8342-01A-11D-2310-10	26168071	45919681	2210214	63	1554											
CECR2	27443	broad.mit.edu	37	chr22	18029228	18029228	+	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	agaagtggaataagaggaccTttccaggaaatgtacagacc	16	7	11	7	0	0	3	0	0	0	3	1	6	1	6	3	3	1	1	3	3	5	3			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr22:18029228T>C	ENST00000400585.2	+	17	4197	c.3759T>C	c.(3757-3759)ccT>ccC	p.P1253P	CECR2_ENST00000400573.5_Silent_p.P1395P|CECR2_ENST00000262608.8_Silent_p.P1396P			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1437	Poly-Pro.				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)		TAAGAGGACCTTTCCAGGAAA	0.433																																						.											0													31	33	33					22																	18029228		1922	4124	6046	SO:0001819	synonymous_variant	27443			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.3759T>C	22.37:g.18029228T>C			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37																																																																																					0.433	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		C	18029228	T	C	18029228	2	2	20	1	0	0	0	0	0	0	0	1	3206	1596	56	2		2	CECR2	22	18029228	Silent	SNP	T	TCGA-KL-8342-01A-11D-2310-10		18029228	33275338	64	1555											
ARFGAP3	26286	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	43231465	43231465	+	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	tgtacttggcattggtgtcaTtggtggaacacccatgttga	8	14	12	7	0	1	1	1	1	0	0	1	2	1	2	1	4	2	3	1	4	2	5	rs142981529		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr22:43231465T>A	ENST00000263245.5	-	4	515	c.296A>T	c.(295-297)aAt>aTt	p.N99I	ARFGAP3_ENST00000437119.2_Intron|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	99	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ATTGGTGTCATTGGTGGAACA	0.453																																					GBM(58;544 1030 21460 27159 48838)	.											0													201	165	177					22																	43231465		2203	4300	6503	SO:0001583	missense	26286			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.296A>T	22.37:g.43231465T>A	ENSP00000263245:p.Asn99Ile		E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	T	6.647	0.487825	0.12641	.	.	ENSG00000242247	ENST00000263245;ENST00000435208	T;T	0.44083	0.93;0.93	5.21	-7.31	0.01441	.	0.548090	0.19699	N	0.108090	T	0.41834	0.1176	L	0.35854	1.095	0.51233	D	0.999915	P	0.43314	0.803	P	0.56788	0.806	T	0.64466	-0.6401	10	0.66056	D	0.02	.	11.0737	0.48019	0.0:0.4668:0.1733:0.3599	.	99	Q9NP61	ARFG3_HUMAN	I	99;77	ENSP00000263245:N99I;ENSP00000407734:N77I	ENSP00000263245:N99I	N	-	2	0	ARFGAP3	41561409	0.000000	0.05858	0.000000	0.03702	0.472000	0.32918	-1.543000	0.02194	-2.706000	0.00396	-1.447000	0.01057	AAT		0.453	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		A	43231465	T	A	43231465	3	1	20	1	0	0	0	0	1	0	0	0	851	1493	52	5	1306	5	ARFGAP3	22	43231465	Missense_Mutation	SNP	T	TCGA-KL-8342-01A-11D-2310-10	25202237	43231465	8073101	65	1556											
MAGEB6	158809	bcgsc.ca	37	chrX	26212262	26212262	+	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	tccaagcacctcccgtgatgCctccgttcctcaggagtctc	6	10	8	17	2	2	1	1	1	1	0	7	2	6	2	6	1	2	2	6	1	1	1	rs4272533		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:26212262C>T	ENST00000379034.1	+	2	448	c.299C>T	c.(298-300)gCc>gTc	p.A100V		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	100	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCCGTGATGCCTCCGTTCCT	0.532													.|||	410	0.108609	0.0272	0.0807	3775	,	,		13813	0.1052		0.0775	False		,,,				2504	0.137					.											0													88	80	83					X																	26212262		2196	4255	6451	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.299C>T	X.37:g.26212262C>T	ENSP00000368320:p.Ala100Val		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	113	0.06811332127787824	6	0.012605042016806723	8	0.023391812865497075	24	0.045112781954887216	26	0.03581267217630854	C	6.563	0.472197	0.12461	.	.	ENSG00000176746	ENST00000379034	T	0.01902	4.57	1.26	1.26	0.21427	.	.	.	.	.	T	0.00328	0.0010	N	0.24115	0.695	0.80722	P	0.0	D	0.54772	0.968	B	0.42361	0.385	T	0.49725	-0.8909	8	0.19147	T	0.46	.	5.486	0.16749	0.0:1.0:0.0:0.0	rs4272533;rs52789792;rs4272533	100	Q8N7X4	MAGB6_HUMAN	V	100	ENSP00000368320:A100V	ENSP00000368320:A100V	A	+	2	0	MAGEB6	26122183	0.001000	0.12720	0.004000	0.12327	0.007000	0.05969	0.228000	0.17814	0.914000	0.36822	0.550000	0.68814	GCC		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		T	26212262	C	T	26212262	3	4	20	1	0	0	0	0	1	0	0	0	9179	739	26	3	301	3	MAGEB6	23	26212262	Missense_Mutation	SNP	C	TCGA-KL-8342-01A-11D-2310-10		26212262	129058298	66	1557											
BCOR	54880	broad.mit.edu	37	chrX	39913558	39913558	+	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	gtgccactggcgtcatcatcAttgcgaccctggaggtcatt	7	11	11	12	2	4	0	4	0	0	0	4	2	4	1	2	3	2	0	2	3	0	2			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:39913558A>G	ENST00000378444.4	-	13	4998	c.4770T>C	c.(4768-4770)aaT>aaC	p.N1590N	BCOR_ENST00000397354.3_Silent_p.N1556N|BCOR_ENST00000378455.4_Silent_p.N1538N|BCOR_ENST00000342274.4_Silent_p.N1556N|BCOR_ENST00000378463.1_Silent_p.N433N	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1590					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						CGTCATCATCATTGCGACCCT	0.438			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													59	50	53					X																	39913558		2202	4300	6502	SO:0001819	synonymous_variant	54880			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.4770T>C	X.37:g.39913558A>G			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																				0.438	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		G	39913558	A	G	39913558	2	3	20	1	0	0	0	0	0	0	0	1	1386	214	8	4		4	BCOR	23	39913558	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10	13701296	39913558	115357002	67	1558											
AIFM1	9131	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	129281737	129281737	+	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	tgcaccttaccctggccccaGgatcccgagcccggatggat	7	7	11	16	2	0	0	0	0	0	0	1	4	1	3	6	4	3	1	6	4	1	1			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:129281737G>A	ENST00000287295.3	-	4	694	c.464C>T	c.(463-465)cCt>cTt	p.P155L	AIFM1_ENST00000535724.1_Missense_Mutation_p.P68L|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.P151L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	155	FAD-dependent oxidoreductase. {ECO:0000250}.				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)	CCTGGCCCCAGGATCCCGAGC	0.502																																						.											0													113	104	107					X																	129281737		2203	4300	6503	SO:0001583	missense	9131			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.464C>T	X.37:g.129281737G>A	ENSP00000287295:p.Pro155Leu		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132328	0.94473	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	D;D;D	0.85013	-1.93;-1.93;-1.93	5.55	5.55	0.83447	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	M	0.85373	2.75	0.80722	D	1	D;D;D	0.63880	0.991;0.993;0.991	D;D;D	0.63877	0.913;0.919;0.913	D	0.89790	0.3967	10	0.12430	T	0.62	-9.0643	18.5251	0.90969	0.0:0.0:1.0:0.0	.	155;151;155	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	L	151;68;155	ENSP00000315122:P151L;ENSP00000446113:P68L;ENSP00000287295:P155L	ENSP00000287295:P155L	P	-	2	0	AIFM1	129109418	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.401000	0.97294	2.317000	0.78254	0.544000	0.68410	CCT		0.502	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			A	129281737	G	A	129281737	3	1	20	1	0	0	0	0	1	0	0	0	426	1000	35	4	1441	4	AIFM1	23	129281737	Missense_Mutation	SNP	G	TCGA-KL-8342-01A-11D-2310-10	89368179	129281737	25988823	68	1559											
MAMLD1	10046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	149638778	149638778	+	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	caccagctgaaggcgttggcAgccagcaagcaggggtctgc	9	5	15	12	1	1	1	0	1	1	0	1	1	1	1	2	4	5	5	2	4	2	1			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:149638778A>T	ENST00000370401.2	+	4	1243	c.933A>T	c.(931-933)gcA>gcT	p.A311A	MAMLD1_ENST00000426613.2_Silent_p.A286A|MAMLD1_ENST00000432680.2_Silent_p.A286A|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.A311A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	311					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)					AGGCGTTGGCAGCCAGCAAGC	0.637																																						.											0													80	57	65					X																	149638778		2203	4300	6503	SO:0001819	synonymous_variant	10046			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.933A>T	X.37:g.149638778A>T			B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	CCDS14693.2																																																																																				0.637	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		T	149638778	A	T	149638778	2	4	20	1	0	0	0	0	0	0	0	1	9208	175	7	5		5	MAMLD1	23	149638778	Silent	SNP	A	TCGA-KL-8342-01A-11D-2310-10	20357041	149638778	5631782	69	1560											
RBMXL1	494115	mdanderson.org	37	chr1	89448940	89448940	+	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	tcccttcgaggtggacctccAtaactatctcttccacgtga	8	12	7	14	2	1	1	0	1	1	0	6	3	4	2	4	2	1	0	4	2	2	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:89448940A>G	ENST00000321792.5	-	2	997	c.570T>C	c.(568-570)taT>taC	p.Y190Y	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Silent_p.Y190Y|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	190					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GTGGACCTCCATAACTATCTC	0.502																																						.											0													175	174	174					1																	89448940		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.570T>C	1.37:g.89448940A>G				Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.502	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89448940	A	G	89448940	2	3	21	1	0	0	0	0	0	0	0	1	13153	224	8	4		4	RBMXL1	1	89448940	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10		89448940	159801681	1	1561											
CELSR2	1952	mdanderson.org	37	chr1	109801121	109801121	+	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	atcaccgatgagatgctcacCcacagcatcacgctgcgcct	10	7	8	16	3	3	1	3	1	0	1	3	3	3	1	3	0	3	3	3	0	0	0	rs684138	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:109801121C>T	ENST00000271332.3	+	2	3439	c.3378C>T	c.(3376-3378)acC>acT	p.T1126T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1126	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		AGATGCTCACCCACAGCATCA	0.652													C|||	583	0.116414	0.3033	0.0893	5008	,	,		19037	0		0.1044	False		,,,				2504	0.0153				NSCLC(158;1285 2011 34800 34852 42084)	.											0								C		1202,3202		164,874,1164	42	34	36		3378	-1.5	1	1	dbSNP_83	36	817,7779		44,729,3525	yes	coding-synonymous	CELSR2	NM_001408.2		208,1603,4689	TT,TC,CC		9.5044,27.2934,15.5308		1126/2924	109801121	2019,10981	2202	4298	6500	SO:0001819	synonymous_variant	1952			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.3378C>T	1.37:g.109801121C>T			Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109801121	C	T	109801121	2	4	21	1	0	0	0	0	0	0	0	1	3222	610	22	3		3	CELSR2	1	109801121	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	20352181	109801121	139449500	2	1562											
AMPD2	271	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	110168780	110168780	+	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	ttctcacccctcttgcctctAggctggagccagacatcctg	6	11	8	16	0	3	1	1	0	3	1	5	2	4	2	5	2	2	1	5	2	1	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:110168780A>T	ENST00000256578.3	+	4	875		c.e4-1		AMPD2_ENST00000528454.1_Splice_Site|AMPD2_ENST00000528667.1_Splice_Site|AMPD2_ENST00000526301.1_Splice_Site|AMPD2_ENST00000393688.3_Splice_Site|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Splice_Site|AMPD2_ENST00000342115.4_Splice_Site	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2						cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTGCCTCTAGGCTGGAGCC	0.607																																						.											0													73	56	62					1																	110168780		2203	4300	6503	SO:0001630	splice_region_variant	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.516-1A>T	1.37:g.110168780A>T			B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Splice_Site	SNP	ENST00000256578.3	37	CCDS805.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160411	0.57368	.	.	ENSG00000116337	ENST00000531734;ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000369840;ENST00000527846;ENST00000528454;ENST00000393688	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.975	0.41777	0.9179:0.0:0.0821:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMPD2	109970303	1.000000	0.71417	0.887000	0.34795	0.742000	0.42306	9.023000	0.93683	1.872000	0.54250	0.379000	0.24179	.		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		Intron	T	110168780	A	T	110168780	5	4	21	1	0	0	0	0	0	0	1	0	586	434	15	5	569	5	AMPD2	1	110168780	Splice_Site	SNP	A	TCGA-KL-8343-01A-11D-2310-10	367659	110168780	139081841	3	1563											
CHIA	27159	mdanderson.org;bcgsc.ca	37	chr1	111863044	111863044	+	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	accagcagaactgccaggccGggcttgtcttcgacaccagc	9	6	11	15	2	1	1	0	0	1	1	2	2	1	1	4	2	4	2	4	2	1	2	rs142653250	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:111863044G>A	ENST00000369740.1	+	12	1490	c.1387G>A	c.(1387-1389)Ggg>Agg	p.G463R	CHIA_ENST00000483391.1_Missense_Mutation_p.G302R|CHIA_ENST00000430615.1_Missense_Mutation_p.G355R|CHIA_ENST00000343320.6_Missense_Mutation_p.G463R|CHIA_ENST00000451398.2_Missense_Mutation_p.G302R|CHIA_ENST00000353665.6_Missense_Mutation_p.G302R|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	463	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTGCCAGGCCGGGCTTGTCTT	0.527													G|||	3	0.000599042	0	0.0014	5008	,	,		21604	0.001		0.001	False		,,,				2504	0					.											0								G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	62	61	62		1063,1387	1.8	0	1	dbSNP_134	62	14,8586	9.8+/-36.6	0,14,4286	yes	missense,missense	CHIA	NM_021797.2,NM_201653.2	125,125	0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153	possibly-damaging,possibly-damaging	355/369,463/477	111863044	15,12991	2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1387G>A	1.37:g.111863044G>A	ENSP00000358755:p.Gly463Arg		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	G	12.12	1.841326	0.32513	2.27E-4	0.001628	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000430615	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.77	1.8	0.24995	Chitin binding domain (5);	0.000000	0.56097	U	0.000034	T	0.45196	0.1330	H	0.98594	4.275	0.09310	N	1	P	0.39847	0.691	B	0.38880	0.284	T	0.52253	-0.8600	10	0.62326	D	0.03	-1.4299	5.9113	0.19029	0.1698:0.0:0.6772:0.153	.	463	Q9BZP6	CHIA_HUMAN	R	407;302;463;463;302;302;355	ENSP00000387671:G407R;ENSP00000436946:G302R;ENSP00000358755:G463R;ENSP00000341828:G463R;ENSP00000390476:G302R;ENSP00000338970:G302R;ENSP00000391132:G355R	ENSP00000341828:G463R	G	+	1	0	CHIA	111664567	0.399000	0.25287	0.000000	0.03702	0.668000	0.39293	1.995000	0.40767	0.298000	0.22638	0.655000	0.94253	GGG		0.527	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			A	111863044	G	A	111863044	3	1	21	1	0	0	0	0	1	0	0	0	3342	1116	39	1	1429	1	CHIA	1	111863044	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	1694264	111863044	137387577	4	1564											
NBPF10	100132406	mdanderson.org	37	chr1	145299805	145299805	+	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	tttgtccagcgagaaggcagAgatgaacattctagaaatca	15	9	10	7	1	2	4	1	1	1	3	3	6	3	4	1	1	2	1	1	1	4	3	rs61814629	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:145299805A>C	ENST00000369338.1	+	2	231	c.41A>C	c.(40-42)gAg>gCg	p.E14A	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.E285A			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	285						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E285A(1)|p.E14A(1)		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)		GAGAAGGCAGAGATGAACATT	0.493													.|||	179	0.0357428	0.0015	0.0231	5008	,	,		43597	0.0635		0.0487	False		,,,				2504	0.0491					.											2	Substitution - Missense(2)	skin(2)											9	8	8					1																	145299805		690	1570	2260	SO:0001583	missense	100132406			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	ENST00000369338.1:c.41A>C	1.37:g.145299805A>C	ENSP00000358344:p.Glu14Ala		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	11.71	1.719994	0.30503	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03663	3.85;3.85	1.05	1.05	0.20165	.	.	.	.	.	T	0.03095	0.0091	M	0.74647	2.275	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.39941	-0.9589	9	0.66056	D	0.02	.	4.3442	0.11124	1.0:0.0:0.0:0.0	rs61814629	14	Q86T75-2	.	A	210;14;14;285	ENSP00000358344:E14A;ENSP00000345684:E285A	ENSP00000345684:E285A	E	+	2	0	NBPF10	144011162	0.002000	0.14202	0.003000	0.11579	0.032000	0.12392	-0.314000	0.08092	0.731000	0.32448	0.234000	0.17832	GAG		0.493	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		C	145299805	A	C	145299805	3	2	21	1	0	0	0	0	1	0	0	0	10193	304	11	5	876	5	NBPF10	1	145299805	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	33436761	145299805	103950816	5	1565											
PRG4	10216	broad.mit.edu	37	chr1	186276256	186276257	+	In_Frame_Ins	INS	-	-	CCA																															cactcccaaggagcctgcacINSccaccaccaaggagcctgca																								rs149342058	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:186276256_186276257insCCA	ENST00000445192.2	+	7	1450_1451	c.1405_1406insCCA	c.(1405-1407)ccc>cCCAcc	p.471_472insT	PRG4_ENST00000367483.4_In_Frame_Ins_p.430_431insT|PRG4_ENST00000367486.3_In_Frame_Ins_p.428_429insT|PRG4_ENST00000367485.4_In_Frame_Ins_p.378_379insT|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	471	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						GGAGCCTGCACCCACCACCAAG	0.653																																						.											0																																										SO:0001652	inframe_insertion	10216			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.1412_1414dupCCA	1.37:g.186276263_186276265dupCCA	ENSP00000399679:p.Thr471_Thr471dup		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Ins	INS	ENST00000445192.2	37	CCDS1369.1																																																																																				0.653	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		CCA	186276257	-	CCA	186276256	7	5	21	1	0	1	1	0	0	0	0	0	12481	507	18	0	1427	0	PRG4	1	186276256	In_Frame_Ins	INS	-	TCGA-KL-8343-01A-11D-2310-10	40976451	186276256	62974365	6	1566											
TPR	7175	bcgsc.ca	37	chr1	186283126	186283126	+	Missense_Mutation	SNP	T	T	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	attaatatttcctctgtttaTtcctcctctccctcccattg	6	19	2	14	0	2	0	0	0	2	0	7	0	6	0	5	0	0	1	5	0	3	7			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:186283126T>C	ENST00000367478.4	-	51	7365	c.7069A>G	c.(7069-7071)Ata>Gta	p.I2357V	PRG4_ENST00000367483.4_3'UTR|PRG4_ENST00000367486.3_3'UTR|PRG4_ENST00000367485.4_3'UTR|PRG4_ENST00000445192.2_3'UTR|PRG4_ENST00000367484.3_3'UTR|RNU6-1240P_ENST00000365155.1_RNA	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2357					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)		CCTCTGTTTATTCCTCCTCTC	0.294			T	NTRK1	papillary thyroid																																	.		Dom	yes		1	1q25	7175	translocated promoter region		E	0													102	101	102					1																	186283126		1816	4073	5889	SO:0001583	missense	7175			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.7069A>G	1.37:g.186283126T>C	ENSP00000356448:p.Ile2357Val		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.694038	0.30052	.	.	ENSG00000047410	ENST00000367478	T	0.23147	1.92	5.79	3.47	0.39725	.	0.407546	0.27816	N	0.017721	T	0.19644	0.0472	L	0.36672	1.1	0.28273	N	0.924309	B	0.13594	0.008	B	0.12156	0.007	T	0.13150	-1.0520	10	0.21014	T	0.42	.	12.5726	0.56344	0.0:0.0:0.3977:0.6023	.	2357	P12270	TPR_HUMAN	V	2357	ENSP00000356448:I2357V	ENSP00000356448:I2357V	I	-	1	0	TPR	184549749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.572000	0.36461	0.981000	0.38548	0.528000	0.53228	ATA		0.294	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		C	186283126	T	C	186283126	3	2	21	1	0	0	0	0	1	0	0	0	16413	1493	52	4	26	4	TPR	1	186283126	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	6870	186283126	62967495	7	1567											
CHIT1	1118	hgsc.bcm.edu;ucsc.edu	37	chr1	203188924	203188924	+	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	ccgtaggtaggcatgccaagGatcagcttgctggcaggggt	8	8	16	9	1	1	0	1	0	0	0	1	1	1	1	2	6	3	6	2	6	3	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:203188924G>T	ENST00000367229.1	-	8	817	c.783C>A	c.(781-783)atC>atA	p.I261I	CHIT1_ENST00000255427.3_Silent_p.I242I|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.I252I	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	261					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCATGCCAAGGATCAGCTTGC	0.612																																						.											0													51	47	48					1																	203188924		2203	4300	6503	SO:0001819	synonymous_variant	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.783C>A	1.37:g.203188924G>T			B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	CCDS1436.1																																																																																				0.612	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203188924	G	T	203188924	2	4	21	1	0	0	0	0	0	0	0	1	3346	1164	41	5		5	CHIT1	1	203188924	Silent	SNP	G	TCGA-KL-8343-01A-11D-2310-10	16905798	203188924	46061697	8	1568											
RD3	343035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	211654675	211654675	+	Missense_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	ccgtcagctccatcataagcGtctccagcaccatctcagca	10	8	6	17	2	4	0	3	0	2	0	7	0	5	0	4	0	4	3	4	0	1	1	rs61740157	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:211654675G>A	ENST00000367002.4	-	2	1246	c.83C>T	c.(82-84)aCg>aTg	p.T28M	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	28					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CATCATAAGCGTCTCCAGCAC	0.627													G|||	3	0.000599042	0.0023	0	5008	,	,		19913	0		0	False		,,,				2504	0					.											0								G	MET/THR,MET/THR	15,4391	22.3+/-47.3	0,15,2188	65	64	64		83,83	4.8	1	1	dbSNP_129	64	0,8600		0,0,4300	yes	missense,missense	RD3	NM_001164688.1,NM_183059.2	81,81	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	probably-damaging,probably-damaging	28/196,28/196	211654675	15,12991	2203	4300	6503	SO:0001583	missense	343035			AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.83C>T	1.37:g.211654675G>A	ENSP00000355969:p.Thr28Met		A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	CCDS1498.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.3	4.516183	0.85495	0.003404	0.0	ENSG00000198570	ENST00000367002	T	0.15834	2.39	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	M	0.70595	2.14	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.32079	-0.9920	10	0.49607	T	0.09	-44.5479	18.3198	0.90234	0.0:0.0:1.0:0.0	.	28	Q7Z3Z2	RD3_HUMAN	M	28	ENSP00000355969:T28M	ENSP00000355969:T28M	T	-	2	0	RD3	209721298	1.000000	0.71417	0.997000	0.53966	0.776000	0.43924	8.904000	0.92590	2.395000	0.81488	0.561000	0.74099	ACG		0.627	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		A	211654675	G	A	211654675	3	1	21	1	0	0	0	0	1	0	0	0	13187	1145	40	1	512	1	RD3	1	211654675	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	8465751	211654675	37595946	9	1569											
LYST	1130	ucsc.edu	37	chr1	235964396	235964396	+	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	gtttcagactttaagtctacCcctgaaaagagaaaagcgaa	16	9	8	8	1	2	3	1	1	1	2	2	5	2	3	2	0	2	1	2	0	7	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:235964396C>T	ENST00000389794.3	-	9	3888	c.3714G>A	c.(3712-3714)ggG>ggA	p.G1238G	LYST_ENST00000536965.1_Splice_Site_p.G1238G|LYST_ENST00000389793.2_Splice_Site_p.G1238G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1238					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)			TTAAGTCTACCCCTGAAAAGA	0.333																																						.											0													70	73	72					1																	235964396		2202	4299	6501	SO:0001630	splice_region_variant	1130			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.3713-1G>A	1.37:g.235964396C>T			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																				0.333	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		Silent	T	235964396	C	T	235964396	5	4	21	1	0	0	0	0	0	0	1	0	9128	637	22	3	7871	3	LYST	1	235964396	Splice_Site	SNP	C	TCGA-KL-8343-01A-11D-2310-10	24309721	235964396	13286225	10	1570											
SDC1	6382	broad.mit.edu	37	chr2	20402642	20402642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgcggtacagcatgAaacccaccaggcacacagca	13	6	8	14	1	2	1	1	1	1	0	2	1	2	1	2	2	5	4	2	2	2	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:20402642A>G	ENST00000254351.4	-	5	1062	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000381150.1_Missense_Mutation_p.F273S	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	273					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)		GTACAGCATGAAACCCACCAG	0.617																																						.											0													138	139	139					2																	20402642		2203	4300	6503	SO:0001583	missense	6382			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.818T>C	2.37:g.20402642A>G	ENSP00000254351:p.Phe273Ser		D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398474	0.62177	.	.	ENSG00000115884	ENST00000254351;ENST00000381150	T;T	0.28666	1.6;1.6	4.63	4.63	0.57726	.	0.000000	0.51477	D	0.000095	T	0.55625	0.1932	M	0.80847	2.515	0.51767	D	0.99993	D	0.76494	0.999	D	0.72338	0.977	T	0.62011	-0.6944	10	0.87932	D	0	-19.074	12.2904	0.54815	1.0:0.0:0.0:0.0	.	273	P18827	SDC1_HUMAN	S	273	ENSP00000254351:F273S;ENSP00000370542:F273S	ENSP00000254351:F273S	F	-	2	0	SDC1	20266123	1.000000	0.71417	0.995000	0.50966	0.117000	0.20001	9.101000	0.94219	1.849000	0.53698	0.459000	0.35465	TTC		0.617	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		G	20402642	A	G	20402642	3	3	21	1	0	0	0	0	1	0	0	0	13951	246	9	4	118	4	SDC1	2	20402642	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		20402642	222796731	11	1571											
TRIM54	57159	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	27527838	27527838	+	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	gtgtatcagagtgagctcagCgatggcatcgcgatgctggt	8	10	15	8	3	2	2	2	1	0	1	3	4	2	2	0	2	3	4	0	2	1	1			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:27527838C>A	ENST00000380075.2	+	4	865	c.525C>A	c.(523-525)agC>agA	p.S175R	TRIM54_ENST00000296098.4_Missense_Mutation_p.S217R	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	175	Mediates microtubule-binding and homooligomerization. {ECO:0000250}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGCTCAGCGATGGCATCG	0.607																																						.											0													85	65	72					2																	27527838		2203	4300	6503	SO:0001583	missense	57159			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.525C>A	2.37:g.27527838C>A	ENSP00000369415:p.Ser175Arg		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813742	0.70912	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.56611	0.45;2.44	5.77	-8.68	0.00859	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.51422	1.61	0.45087	D	0.998104	B;P	0.40534	0.058;0.72	B;P	0.44860	0.028;0.462	T	0.61237	-0.7103	10	0.33940	T	0.23	-19.0914	17.7535	0.88442	0.0:0.7584:0.0:0.2416	.	175;217	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	R	175;217	ENSP00000369415:S175R;ENSP00000296098:S217R	ENSP00000296098:S217R	S	+	3	2	TRIM54	27381342	0.000000	0.05858	0.533000	0.28001	0.981000	0.71138	-1.638000	0.02013	-1.882000	0.01122	-0.291000	0.09656	AGC		0.607	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		A	27527838	C	A	27527838	3	1	21	1	0	0	0	0	1	0	0	0	16525	767	27	5	669	5	TRIM54	2	27527838	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	7125196	27527838	215671535	12	1572											
EIF2B4	8890	mdanderson.org	37	chr2	27592316	27592316	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatacagcagagccagtcTctggttctgcccccttttct	7	12	8	14	0	3	2	0	0	3	2	4	2	3	2	3	1	4	2	3	1	1	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:27592316T>C	ENST00000347454.4	-	3	347	c.176A>G	c.(175-177)gAg>gGg	p.E59G	SNX17_ENST00000233575.2_5'Flank|SNX17_ENST00000537606.1_5'Flank|AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000542478.1_5'Flank|EIF2B4_ENST00000493344.2_Missense_Mutation_p.E80G|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.E80G|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E59G	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	59					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|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)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCCAGTCTCTGGTTCTGC	0.522																																						.											0													233	194	207					2																	27592316		2203	4300	6503	SO:0001583	missense	8890			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.176A>G	2.37:g.27592316T>C	ENSP00000233552:p.Glu59Gly		Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843101	0.71488	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	4.87	3.65	0.41850	.	0.570797	0.19966	N	0.102106	D	0.91583	0.7341	L	0.46157	1.445	0.47441	D	0.999425	P;B;B;B;B	0.44139	0.827;0.277;0.277;0.181;0.277	B;B;B;B;B	0.44133	0.442;0.053;0.053;0.024;0.053	D	0.90164	0.4230	10	0.45353	T	0.12	-3.4995	8.6998	0.34318	0.0:0.0:0.191:0.809	.	53;57;59;59;80	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	G	59;57;59;80;80	ENSP00000233552:E59G;ENSP00000394397:E59G;ENSP00000394869:E80G;ENSP00000429323:E80G	ENSP00000233552:E59G	E	-	2	0	EIF2B4	27445820	0.006000	0.16342	0.169000	0.22859	0.969000	0.65631	0.807000	0.27140	2.049000	0.60858	0.459000	0.35465	GAG		0.522	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			C	27592316	T	C	27592316	3	2	21	1	0	0	0	0	1	0	0	0	5003	1551	54	2	1439	2	EIF2B4	2	27592316	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	64478	27592316	215607057	13	1573											
IMMT	10989	bcgsc.ca	37	chr2	86408441	86408441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagctgcctgaagtagAgtatctgcggcatggtcgca	9	8	13	11	2	1	3	0	1	1	2	2	3	1	3	2	2	3	5	2	2	3	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:86408441A>G	ENST00000410111.3	-	2	487	c.100T>C	c.(100-102)Tct>Cct	p.S34P	IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000449247.2_Missense_Mutation_p.S34P|IMMT_ENST00000442664.2_Missense_Mutation_p.S34P|IMMT_ENST00000409051.2_Missense_Mutation_p.S34P	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	34					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGAAGTAGAGTATCTGCGG	0.443																																						.											0													73	71	72					2																	86408441		1931	4130	6061	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.100T>C	2.37:g.86408441A>G	ENSP00000387262:p.Ser34Pro		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529243	0.44969	.	.	ENSG00000132305	ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T	0.37058	1.22;1.24;1.24;1.3	5.55	5.55	0.83447	.	0.178411	0.50627	D	0.000117	T	0.34454	0.0898	L	0.27053	0.805	0.35412	D	0.792516	B;B;B;D;B;B;B;B;B	0.53462	0.003;0.001;0.002;0.96;0.02;0.005;0.003;0.005;0.002	B;B;B;P;B;B;B;B;B	0.49451	0.018;0.003;0.008;0.611;0.026;0.03;0.018;0.03;0.008	T	0.49409	-0.8943	10	0.59425	D	0.04	-12.2889	12.1652	0.54125	0.8575:0.1425:0.0:0.0	.	34;34;34;34;34;34;34;34;34	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	P	34	ENSP00000396899:S34P;ENSP00000387262:S34P;ENSP00000407788:S34P;ENSP00000387227:S34P	ENSP00000366526:S34P	S	-	1	0	IMMT	86261952	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	3.512000	0.53407	2.118000	0.64928	0.533000	0.62120	TCT		0.443	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		G	86408441	A	G	86408441	3	3	21	1	0	0	0	0	1	0	0	0	7718	304	11	2	2232	2	IMMT	2	86408441	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	58816125	86408441	156790932	14	1574											
IL18RAP	8807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	103068475	103068475	+	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	ttggagaggcttaaaatcagTtcctcccaattctaggttct	10	14	8	9	0	3	1	1	0	2	1	5	2	5	1	2	3	0	3	2	3	4	6			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:103068475T>A	ENST00000264260.2	+	12	2223	c.1634T>A	c.(1633-1635)gTt>gAt	p.V545D	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V403D	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	545	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						TTAAAATCAGTTCCTCCCAAT	0.453																																						.											0													129	139	135					2																	103068475		2203	4300	6503	SO:0001583	missense	8807			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.1634T>A	2.37:g.103068475T>A	ENSP00000264260:p.Val545Asp		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743358	0.49151	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.07800	3.16;3.16	6.02	2.36	0.29203	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.409080	0.22957	N	0.053587	T	0.07369	0.0186	L	0.51422	1.61	0.19300	N	0.999979	P	0.42584	0.784	B	0.42522	0.39	T	0.18650	-1.0330	10	0.12430	T	0.62	.	3.9251	0.09261	0.0:0.3914:0.2101:0.3985	.	545	O95256	I18RA_HUMAN	D	545;403	ENSP00000264260:V545D;ENSP00000387201:V403D	ENSP00000264260:V545D	V	+	2	0	IL18RAP	102434907	0.000000	0.05858	0.038000	0.18304	0.871000	0.50021	0.579000	0.23788	0.516000	0.28340	0.528000	0.53228	GTT		0.453	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		A	103068475	T	A	103068475	3	1	21	1	0	0	0	0	1	0	0	0	7648	1725	60	5	1672	5	IL18RAP	2	103068475	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	16660034	103068475	140130898	15	1575											
SAP130	79595	broad.mit.edu;bcgsc.ca	37	chr2	128747329	128747329	+	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	gctggatcccttgaatatgtCgagcatgcgatgcatccact	9	11	10	11	2	0	1	0	1	0	0	3	4	2	2	2	1	3	3	2	1	2	2	rs199755359		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:128747329C>A	ENST00000259235.3	-	13	1796	c.1667G>T	c.(1666-1668)cGa>cTa	p.R556L	SAP130_ENST00000357702.5_Missense_Mutation_p.R556L|SAP130_ENST00000259234.6_Missense_Mutation_p.R530L	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	556					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)		TTGAATATGTCGAGCATGCGA	0.577																																						.											0													116	98	104					2																	128747329		2203	4300	6503	SO:0001583	missense	79595			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.1667G>T	2.37:g.128747329C>A	ENSP00000259235:p.Arg556Leu		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571602	0.65765	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	4.68	0.58851	.	0.000000	0.64402	D	0.000007	T	0.62901	0.2466	L	0.27053	0.805	0.47778	D	0.999513	D;P;P;D;P	0.71674	0.998;0.901;0.761;0.997;0.901	D;B;B;D;B	0.80764	0.994;0.338;0.272;0.98;0.372	T	0.60276	-0.7295	9	0.27785	T	0.31	-10.0439	14.5671	0.68185	0.0:0.9295:0.0:0.0705	.	556;529;556;86;194	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	L	556;556;530	.	ENSP00000259234:R530L	R	-	2	0	SAP130	128463799	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.225000	0.65294	1.334000	0.45468	0.655000	0.94253	CGA		0.577	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		A	128747329	C	A	128747329	3	1	21	1	0	0	0	0	1	0	0	0	13831	884	31	5	1620	5	SAP130	2	128747329	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	25678854	128747329	114452044	16	1576											
HSPD1	3329	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	198358117	198358117	+	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	ttatgaccaaaggcttacggTgagcattggcaatttcaaga	13	11	10	7	1	1	3	1	2	0	1	1	3	1	3	1	3	2	3	1	3	5	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:198358117T>A	ENST00000388968.3	-	7	1067	c.800A>T	c.(799-801)cAc>cTc	p.H267L	HSPD1_ENST00000345042.2_Missense_Mutation_p.H267L	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	267					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			AGGCTTACGGTGAGCATTGGC	0.388																																						.											0													112	112	112					2																	198358117		2203	4300	6503	SO:0001583	missense	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.800A>T	2.37:g.198358117T>A	ENSP00000373620:p.His267Leu		B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651586	0.47362	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.77098	-1.07;-1.07	5.33	5.33	0.75918	.	0.043715	0.85682	D	0.000000	T	0.68128	0.2967	N	0.17922	0.545	0.80722	D	1	B;B;B	0.27910	0.001;0.001;0.193	B;B;B	0.31390	0.005;0.003;0.129	T	0.68667	-0.5348	10	0.59425	D	0.04	-2.7515	15.5821	0.76452	0.0:0.0:0.0:1.0	.	258;267;267	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	L	267;267;123	ENSP00000373620:H267L;ENSP00000340019:H267L	ENSP00000340019:H267L	H	-	2	0	HSPD1	198066362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.941000	0.87700	2.139000	0.66308	0.477000	0.44152	CAC		0.388	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		A	198358117	T	A	198358117	3	1	21	1	0	0	0	0	1	0	0	0	7428	1696	59	5	945	5	HSPD1	2	198358117	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	69610788	198358117	44841256	17	1577											
KIAA1486	57624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	226273811	226273811	+	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	ccgaagacaagaagaagcaaTaaagcggtaaatataaataa	23	5	8	5	2	0	3	0	0	0	3	0	4	0	3	1	1	2	2	1	1	13	5			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:226273811T>A	ENST00000272907.6	+	2	628	c.215T>A	c.(214-216)aTa>aAa	p.I72K	NYAP2_ENST00000409269.2_Missense_Mutation_p.I72K	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	72					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAAGAAGCAATAAAGCGGtaa	0.373																																						.											0													39	33	35					2																	226273811		1831	4072	5903	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.215T>A	2.37:g.226273811T>A	ENSP00000272907:p.Ile72Lys		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173537	0.78452	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.39787	1.06	5.82	5.82	0.92795	.	0.055198	0.64402	D	0.000002	T	0.54983	0.1892	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.49818	-0.8899	10	0.06494	T	0.89	-26.1855	16.1986	0.82053	0.0:0.0:0.0:1.0	.	72;72	Q9P242-2;Q9P242	.;K1486_HUMAN	K	72	ENSP00000272907:I72K	ENSP00000272907:I72K	I	+	2	0	KIAA1486	225982055	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.160000	0.77495	2.227000	0.72691	0.455000	0.32223	ATA		0.373	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226273811	T	A	226273811	3	1	21	1	0	0	0	0	1	0	0	0	8237	1406	49	5	217	5	KIAA1486	2	226273811	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	27915694	226273811	16925562	18	1578											
ROBO2	6092	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	77645803	77645803	+	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	tcttctcaatgctggtgatcCcagctatccatggcttgctg	6	14	9	12	0	2	1	1	1	2	0	5	1	4	1	2	2	3	4	2	2	2	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:77645803C>T	ENST00000461745.1	+	19	3656	c.2756C>T	c.(2755-2757)cCc>cTc	p.P919L	ROBO2_ENST00000487694.3_Missense_Mutation_p.P935L|ROBO2_ENST00000332191.8_Missense_Mutation_p.P919L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	919					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)		GCTGGTGATCCCAGCTATCCA	0.458																																						.											0													144	140	141					3																	77645803		1863	4115	5978	SO:0001583	missense	6092			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.2756C>T	3.37:g.77645803C>T	ENSP00000417164:p.Pro919Leu		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.119351|3.119351	0.56505|0.56505	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000490991	T;T;T|T	0.62498|0.66638	0.02;0.05;0.05|-0.22	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.148737|0.148737	0.30989|0.30989	N|N	0.008470|0.008470	T|T	0.77980|0.77980	0.4212|0.4212	L|L	0.58101|0.58101	1.795|1.795	.|.	.|.	.|.	P;D;B|.	0.54601|.	0.883;0.967;0.047|.	B;P;B|.	0.49252|.	0.4;0.604;0.017|.	T|T	0.73528|0.73528	-0.3954|-0.3954	9|7	0.66056|0.41790	D|T	0.02|0.15	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	935;919;919|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	L|S	935;935;939;919;919|76	ENSP00000417335:P935L;ENSP00000417164:P919L;ENSP00000327536:P919L|ENSP00000418344:P76S	ENSP00000327536:P919L|ENSP00000418344:P76S	P|P	+|+	2|1	0|0	ROBO2|ROBO2	77728493|77728493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.270000|7.270000	0.78493|0.78493	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77645803	C	T	77645803	3	4	21	1	0	0	0	0	1	0	0	0	13514	623	22	3	2832	3	ROBO2	3	77645803	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		77645803	120376627	19	1579											
POU1F1	5449	bcgsc.ca	37	chr3	87311219	87311219	+	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	cttcagagacacaatttagtAcctcctacttgctcagcttc	10	13	5	13	0	2	1	2	0	0	1	4	2	3	1	2	0	4	3	2	0	4	7			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:87311219A>G	ENST00000350375.2	-	4	729		c.e4+1		POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Splice_Site	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1						B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ACAATTTAGTACCTCCTACTT	0.388																																						.											0													119	112	115					3																	87311219		2203	4300	6503	SO:0001630	splice_region_variant	5449			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"Homeoboxes / POU class"	9210	protein-coding gene	gene with protein product	"growth hormone factor 1"	173110	"POU domain class 1, transcription factor 1"	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.604+1T>C	3.37:g.87311219A>G			O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Splice_Site	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560317	0.45590	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3807	0.60766	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POU1F1	87393909	1.000000	0.71417	0.996000	0.52242	0.541000	0.35023	7.146000	0.77373	2.257000	0.74773	0.528000	0.53228	.		0.388	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306	Intron	G	87311219	A	G	87311219	5	3	21	1	0	0	0	0	0	0	1	0	12269	405	14	2	281	2	POU1F1	3	87311219	Splice_Site	SNP	A	TCGA-KL-8343-01A-11D-2310-10	9665416	87311219	110711211	20	1580											
ZBTB11	27107	broad.mit.edu	37	chr3	101395694	101395694	+	Missense_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	cattgccctcggtgcccggcGcatacggctcgcgctcgttc	3	9	12	17	7	0	0	0	0	0	0	4	0	0	0	2	3	3	4	2	3	1	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:101395694G>A	ENST00000312938.4	-	1	645	c.65C>T	c.(64-66)gCg>gTg	p.A22V	ZBTB11-AS1_ENST00000609682.1_RNA|ZBTB11-AS1_ENST00000536865.1_RNA|ZBTB11_ENST00000461821.1_Missense_Mutation_p.A22V	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTGCCCGGCGCATACGGCTC	0.657																																						.											0													27	26	26					3																	101395694		2191	4289	6480	SO:0001583	missense	27107			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.65C>T	3.37:g.101395694G>A	ENSP00000326200:p.Ala22Val		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.066317|6.066317	0.97251|0.97251	.|.	.|.	ENSG00000066422|ENSG00000256628	ENST00000312938;ENST00000461821|ENST00000536865	T;T|.	0.62498|.	0.02;0.02|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.814523	.|0.09980	.|U	.|0.731163	T|T	0.71409|0.71409	0.3336|0.3336	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.57257	1.0;0.992|0.979	D;P|P	0.68039|0.50049	0.955;0.609|0.629	T|T	0.71886|0.71886	-0.4457|-0.4457	9|9	0.87932|0.87932	D|D	0|0	-10.3773|-10.3773	19.8722|19.8722	0.96854|0.96854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	22;22|69	C9J2L2;O95625|Q9BTX9	.;ZBT11_HUMAN|YC010_HUMAN	V|H	22|69	ENSP00000326200:A22V;ENSP00000417369:A22V|.	ENSP00000326200:A22V|ENSP00000444544:R69H	A|R	-|+	2|2	0|0	ZBTB11|AC084198.1	102878384|102878384	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.749000|0.749000	0.42624|0.42624	9.130000|9.130000	0.94437|0.94437	2.700000|2.700000	0.92200|0.92200	0.585000|0.585000	0.79938|0.79938	GCG|CGC		0.657	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		A	101395694	G	A	101395694	3	1	21	1	0	0	0	0	1	0	0	0	17521	1087	38	1	3140	1	ZBTB11	3	101395694	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	14084475	101395694	96626736	21	1581											
COL6A5	256076	broad.mit.edu	37	chr3	130114173	130114173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttttgggcataggagatGtttataaggaacatctcctg	10	14	12	5	0	1	1	0	0	1	1	2	3	1	2	1	4	1	3	1	4	4	6			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:130114173G>T	ENST00000432398.2	+	8	3927	c.3433G>T	c.(3433-3435)Gtt>Ttt	p.V1145F	COL6A5_ENST00000265379.6_Missense_Mutation_p.V1145F	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1145	Nonhelical region.|VWFA 6. {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						CATAGGAGATGTTTATAAGGA	0.373																																						.											0													26	24	24					3																	130114173		692	1591	2283	SO:0001583	missense	256076			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.3433G>T	3.37:g.130114173G>T	ENSP00000390895:p.Val1145Phe		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	9.881	1.201710	0.22121	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.79653	-1.29;-1.29	5.31	3.38	0.38709	.	.	.	.	.	D	0.82388	0.5026	L	0.54323	1.7	0.09310	N	1	D	0.56287	0.975	P	0.59643	0.861	T	0.70615	-0.4823	9	0.59425	D	0.04	.	3.9523	0.09374	0.0876:0.1527:0.5773:0.1824	.	1145	A8TX70-2	.	F	1145	ENSP00000390895:V1145F;ENSP00000265379:V1145F	ENSP00000265379:V1145F	V	+	1	0	COL6A5	131596863	0.250000	0.23951	0.003000	0.11579	0.472000	0.32918	1.059000	0.30517	0.505000	0.28104	0.491000	0.48974	GTT		0.373	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130114173	G	T	130114173	3	4	21	1	0	0	0	0	1	0	0	0	3702	1377	48	5	3459	5	COL6A5	3	130114173	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	28718479	130114173	67908257	22	1582											
TOPBP1	11073	broad.mit.edu	37	chr3	133368474	133368474	+	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	cactttgctcccactacatgAggcctacaaaaatagcacat	14	9	5	13	0	0	1	0	1	0	0	1	1	1	1	2	1	4	2	2	1	5	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:133368474A>G	ENST00000260810.5	-	10	1388	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	419	BRCT 3. {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						CCACTACATGAGGCCTACAAA	0.393								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	.											0													72	66	68					3																	133368474		1875	4115	5990	SO:0001819	synonymous_variant	11073			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.1257T>C	3.37:g.133368474A>G			B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	CCDS46919.1																																																																																				0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		G	133368474	A	G	133368474	2	3	21	1	0	0	0	0	0	0	0	1	16366	291	11	2		2	TOPBP1	3	133368474	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10	3254301	133368474	64653956	23	1583											
CRIPAK	285464	bcgsc.ca	37	chr4	1388697	1388697	+	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	cctgctcacacgtgcccatgCggagtgcccgcctgctcaca	6	7	10	18	3	2	0	2	0	0	0	2	1	2	1	4	1	5	2	4	1	0	0	rs113316888	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr4:1388697C>T	ENST00000324803.4	+	1	3358	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	133					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCCATGCGGAGTGCCCG	0.701													N|||	623	0.124401	0.1399	0.1527	5008	,	,		12463	0.2083		0.0736	False		,,,				2504	0.0491					.											0													57	58	58					4																	1388697		2192	4288	6480	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.398C>T	4.37:g.1388697C>T	ENSP00000323978:p.Ala133Val		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	11.32	1.604146	0.28534	.	.	ENSG00000179979	ENST00000324803	T	0.18810	2.19	0.948	-1.08	0.09936	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	9	0.02654	T	1	.	2.1758	0.03862	0.2485:0.1979:0.0:0.5536	.	133	Q8N1N5	CRPAK_HUMAN	V	133	ENSP00000323978:A133V	ENSP00000323978:A133V	A	+	2	0	CRIPAK	1378697	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-2.200000	0.01237	-1.804000	0.01241	-1.950000	0.00486	GCG		0.701	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		T	1388697	C	T	1388697	3	4	21	1	0	0	0	0	1	0	0	0	3877	768	27	1	400	1	CRIPAK	4	1388697	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		1388697	189765579	24	1584											
UGT8	7368	hgsc.bcm.edu;ucsc.edu	37	chr4	115544546	115544546	+	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	tatcctgctgaagtgggtgcTcctgctccattagcatacgt	7	13	10	11	1	0	1	0	1	0	0	3	1	3	1	3	1	5	4	3	1	4	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr4:115544546T>G	ENST00000310836.6	+	2	1032	c.510T>G	c.(508-510)gcT>gcG	p.A170A	UGT8_ENST00000394511.3_Silent_p.A170A	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	170					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAGTGGGTGCTCCTGCTCCAT	0.438																																						.											0													132	126	128					4																	115544546		2203	4300	6503	SO:0001819	synonymous_variant	7368			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.510T>G	4.37:g.115544546T>G			B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	CCDS3705.1																																																																																				0.438	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		G	115544546	T	G	115544546	2	3	21	1	0	0	0	0	0	0	0	1	16962	1538	54	5		5	UGT8	4	115544546	Silent	SNP	T	TCGA-KL-8343-01A-11D-2310-10	114155849	115544546	75609730	25	1585											
TKTL2	84076	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	164394497	164394497	+	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	gccattccacatgcagtaccTaatccctgacctagggaccc	10	8	7	16	0	0	1	0	1	0	0	2	2	2	2	6	1	2	2	6	1	3	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr4:164394497T>A	ENST00000280605.3	-	1	550	c.390A>T	c.(388-390)ttA>ttT	p.L130F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	130						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGCAGTACCTAATCCCTGAC	0.537																																						.											0													112	106	108					4																	164394497		2203	4300	6503	SO:0001583	missense	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.390A>T	4.37:g.164394497T>A	ENSP00000280605:p.Leu130Phe		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	T	8.443	0.851355	0.17034	.	.	ENSG00000151005	ENST00000280605	T	0.38401	1.14	3.75	-4.32	0.03688	Transketolase, N-terminal (1);	0.000000	0.64402	D	0.000010	T	0.51890	0.1701	M	0.77313	2.365	0.42428	D	0.992665	D	0.89917	1.0	D	0.83275	0.996	T	0.54490	-0.8286	10	0.87932	D	0	-9.7836	9.1928	0.37209	0.0:0.7609:0.1078:0.1313	.	130	Q9H0I9	TKTL2_HUMAN	F	130	ENSP00000280605:L130F	ENSP00000280605:L130F	L	-	3	2	TKTL2	164613947	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	-2.976000	0.00665	-1.026000	0.03330	-0.429000	0.05907	TTA		0.537	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164394497	T	A	164394497	3	1	21	1	0	0	0	0	1	0	0	0	15933	1519	53	5	1494	5	TKTL2	4	164394497	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	48849951	164394497	26759779	26	1586											
RNASEN	29102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	31521319	31521319	+	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	ctgtgtctctcccgttctcgCtctcttaaaggaattaatac	8	15	6	12	2	3	0	0	0	3	0	7	1	4	1	1	1	1	2	1	1	5	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:31521319C>A	ENST00000511367.2	-	5	1102	c.858G>T	c.(856-858)gaG>gaT	p.E286D	DROSHA_ENST00000442743.1_Missense_Mutation_p.E286D|DROSHA_ENST00000344624.3_Missense_Mutation_p.E286D|DROSHA_ENST00000513349.1_Missense_Mutation_p.E286D	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	286	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCCGTTCTCGCTCTCTTAAAG	0.403																																						.											0													210	193	199					5																	31521319		1884	4111	5995	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.858G>T	5.37:g.31521319C>A	ENSP00000425979:p.Glu286Asp		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411233	0.42817	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000382188	T;T;T;T	0.44482	1.49;1.49;0.92;0.92	5.95	4.08	0.47627	.	0.339654	0.31884	N	0.006907	T	0.20373	0.0490	N	0.08118	0	0.32783	N	0.502175	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.19844	-1.0293	10	0.18276	T	0.48	-20.681	9.2232	0.37390	0.0:0.6724:0.253:0.0746	.	286;286	E7EMP9;Q9NRR4	.;RNC_HUMAN	D	286;286;286;286;279	ENSP00000425979:E286D;ENSP00000339845:E286D;ENSP00000409335:E286D;ENSP00000424161:E286D	ENSP00000339845:E286D	E	-	3	2	DROSHA	31557076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.805000	0.27112	1.527000	0.49086	0.655000	0.94253	GAG		0.403	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		A	31521319	C	A	31521319	3	1	21	1	0	0	0	0	1	0	0	0	13417	796	28	5	3390	5	RNASEN	5	31521319	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		31521319	149393941	27	1587											
NIPBL	25836	broad.mit.edu	37	chr5	36985238	36985238	+	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	acccaaacagaagaacttaaAcagaatgagagcagaacaac	22	3	7	9	0	0	5	0	1	0	5	0	6	0	5	1	0	6	1	1	0	8	1			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:36985238A>G	ENST00000282516.8	+	10	2455	c.1956A>G	c.(1954-1956)aaA>aaG	p.K652K	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.K652K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	652					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)			AAGAACTTAAACAGAATGAGA	0.353																																						.											0													92	94	93					5																	36985238		2203	4300	6503	SO:0001819	synonymous_variant	25836			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.1956A>G	5.37:g.36985238A>G			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	36985238	A	G	36985238	2	3	21	1	0	0	0	0	0	0	0	1	10428	40	2	2		2	NIPBL	5	36985238	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10	5463919	36985238	143930022	28	1588											
DAB2	1601	broad.mit.edu	37	chr5	39376947	39376947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctttcacatccttgaTctctttatccccaagtgggt	7	17	5	12	0	3	1	1	1	2	0	6	1	5	1	3	1	0	0	3	1	2	5			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:39376947T>C	ENST00000320816.6	-	12	2409	c.1942A>G	c.(1942-1944)Atc>Gtc	p.I648V	DAB2_ENST00000509337.1_Missense_Mutation_p.I627V|DAB2_ENST00000339788.6_Missense_Mutation_p.I430V|DAB2_ENST00000545653.1_Missense_Mutation_p.I627V	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	648	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)			ACATCCTTGATCTCTTTATCC	0.552											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													56	60	58					5																	39376947		2203	4300	6503	SO:0001583	missense	1601			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.1942A>G	5.37:g.39376947T>C	ENSP00000313391:p.Ile648Val	885	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	T	1.817	-0.473247	0.04445	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.09	3.0	0.34707	.	0.380726	0.29253	N	0.012700	T	0.12732	0.0309	N	0.08118	0	0.23132	N	0.998245	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32025	-0.9922	10	0.02654	T	1	-7.1504	4.1642	0.10298	0.0:0.4387:0.0:0.5613	.	648;627	P98082;P98082-3	DAB2_HUMAN;.	V	648;430;627;627	ENSP00000313391:I648V;ENSP00000345508:I430V;ENSP00000439919:I627V;ENSP00000426245:I627V	ENSP00000313391:I648V	I	-	1	0	DAB2	39412704	1.000000	0.71417	0.991000	0.47740	0.838000	0.47535	4.637000	0.61346	1.116000	0.41820	-0.242000	0.12053	ATC		0.552	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		C	39376947	T	C	39376947	3	2	21	1	0	0	0	0	1	0	0	0	4218	1435	50	4	382	4	DAB2	5	39376947	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	2391709	39376947	141538313	29	1589											
MSH3	4437	broad.mit.edu;mdanderson.org	37	chr5	79968625	79968625	+	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	ggagacaacagaagttcactCttttcccggaaattgactgc	12	10	9	10	1	2	3	1	1	1	2	3	5	3	4	1	2	2	1	1	2	3	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:79968625C>G	ENST00000265081.6	+	6	1055	c.975C>G	c.(973-975)ctC>ctG	p.L325L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	325					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)		GAAGTTCACTCTTTTCCCGGA	0.373								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	.											0													118	120	119					5																	79968625		2203	4300	6503	SO:0001819	synonymous_variant	4437			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.975C>G	5.37:g.79968625C>G			A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	CCDS34195.1																																																																																				0.373	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		G	79968625	C	G	79968625	2	3	21	1	0	0	0	0	0	0	0	1	9871	900	32	5		5	MSH3	5	79968625	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	40591678	79968625	100946635	30	1590											
FLT4	2324	broad.mit.edu	37	chr5	180048849	180048850	+	Frame_Shift_Ins	INS	-	-	GC																															agctcaggagcaccggctggINSccctctagtagctcctcgga																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:180048849_180048850insGC	ENST00000261937.6	-	13	1790_1791	c.1712_1713insGC	c.(1711-1713)ggcfs	p.G571fs	FLT4_ENST00000393347.3_Frame_Shift_Ins_p.G571fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Ins_p.G571fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	571	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)	GCACCGGCTGGCCCTCTAGTAG	0.629																																					Colon(97;1075 1466 27033 27547 35871)	.											0																																										SO:0001589	frameshift_variant	2324			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.1712_1713insGC	5.37:g.180048849_180048850insGC	ENSP00000261937:p.Gly571fs		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Ins	INS	ENST00000261937.6	37	CCDS4457.1																																																																																				0.629	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			GC	180048850	-	GC	180048849	7	5	21	1	0	1	1	0	0	0	0	0	5944	1190	42	0	2458	0	FLT4	5	180048849	Frame_Shift_Ins	INS	-	TCGA-KL-8343-01A-11D-2310-10	100080224	180048849	866411	31	1591											
RING1	6015	ucsc.edu	37	chr6	33179664	33179664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgggtgtggcggggAgggtgggggtgccggaggag	5	6	25	5	2	0	1	0	1	0	0	0	4	0	4	2	9	1	0	2	9	0	0	rs73741545		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:33179664A>G	ENST00000374656.4	+	6	1212	c.1004A>G	c.(1003-1005)gAg>gGg	p.E335G	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	335	Gly-rich.|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						TGTGGCGGGGAGGGTGGGGGT	0.667																																						.											0													17	21	19					6																	33179664		2199	4288	6487	SO:0001583	missense	6015				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.1004A>G	6.37:g.33179664A>G	ENSP00000363787:p.Glu335Gly		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400621	0.42613	.	.	ENSG00000204227	ENST00000374656	D	0.84660	-1.88	4.04	4.04	0.47022	.	0.268117	0.27126	N	0.020812	T	0.51143	0.1657	N	0.08118	0	0.35818	D	0.824394	B	0.10296	0.003	B	0.06405	0.002	T	0.49826	-0.8898	10	0.33141	T	0.24	-38.3332	5.9934	0.19480	0.8842:0.0:0.1158:0.0	.	335	Q06587	RING1_HUMAN	G	335	ENSP00000363787:E335G	ENSP00000363787:E335G	E	+	2	0	RING1	33287642	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.206000	0.51098	1.674000	0.50907	0.368000	0.22195	GAG		0.667	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			G	33179664	A	G	33179664	3	3	21	1	0	0	0	0	1	0	0	0	13374	304	11	2	1022	2	RING1	6	33179664	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		33179664	137935403	32	1592											
CUL7	9820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr6	43020113	43020113	+	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	ctgagcacgtggacagtgtgAagtagaggagcaggagggat	12	6	18	5	1	0	3	0	2	0	1	0	7	0	7	0	4	2	3	0	4	2	1			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:43020113A>G	ENST00000265348.3	-	2	499	c.414T>C	c.(412-414)ctT>ctC	p.L138L	CUL7_ENST00000535468.1_Silent_p.L190L			Q14999	CUL7_HUMAN	cullin 7	138					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGACAGTGTGAAGTAGAGGAG	0.562																																						.											0													82	66	71					6																	43020113		2203	4300	6503	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.414T>C	6.37:g.43020113A>G			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	CCDS4881.1																																																																																				0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		G	43020113	A	G	43020113	2	3	21	1	0	0	0	0	0	0	0	1	4060	233	9	4		4	CUL7	6	43020113	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10	9840449	43020113	128094954	33	1593											
HSP90AB1	3326	mdanderson.org	37	chr6	44221265	44221265	+	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	ggcagcagaggaacccaatgCtgcagttcctgatgagatcc	11	7	12	11	0	0	3	0	2	0	2	2	5	2	4	3	2	4	5	3	2	2	1	rs200104342	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:44221265C>A	ENST00000371554.1	+	12	2319	c.2105C>A	c.(2104-2106)gCt>gAt	p.A702D	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.A702D|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.A702D|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	702					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)			GAACCCAATGCTGCAGTTCCT	0.458											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													75	76	76					6																	44221265		2203	4300	6503	SO:0001583	missense	3326			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.2105C>A	6.37:g.44221265C>A	ENSP00000360609:p.Ala702Asp	922	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920870	0.52653	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.09350	2.99;2.99;2.99	3.9	3.9	0.45041	.	0.750751	0.11539	U	0.553976	T	0.07188	0.0182	M	0.68593	2.085	0.51767	D	0.999931	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.20577	0.03;0.013;0.005	T	0.05354	-1.0890	10	0.33940	T	0.23	-11.1759	12.1165	0.53868	0.0:0.9118:0.0:0.0882	.	664;692;702	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	D	702	ENSP00000360709:A702D;ENSP00000325875:A702D;ENSP00000360609:A702D	ENSP00000325875:A702D	A	+	2	0	HSP90AB1	44329243	0.999000	0.42202	1.000000	0.80357	0.877000	0.50540	3.853000	0.55941	2.183000	0.69458	0.603000	0.83216	GCT		0.458	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		A	44221265	C	A	44221265	3	1	21	1	0	0	0	0	1	0	0	0	7402	797	28	5	2147	5	HSP90AB1	6	44221265	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	1201152	44221265	126893802	34	1594											
CD109	135228	bcgsc.ca	37	chr6	74468723	74468723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatattgttctatgaattctAagcatttaaatggtaccatc	13	17	5	6	0	2	1	0	1	2	0	3	1	2	1	1	1	2	3	1	1	8	10			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:74468723A>G	ENST00000287097.5	+	7	842	c.730A>G	c.(730-732)Aag>Gag	p.K244E	CD109_ENST00000422508.2_Missense_Mutation_p.K167E|CD109_ENST00000437994.2_Missense_Mutation_p.K244E			Q6YHK3	CD109_HUMAN	CD109 molecule	244					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATGAATTCTAAGCATTTAAA	0.313																																						.											0													84	81	82					6																	74468723		2203	4297	6500	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.730A>G	6.37:g.74468723A>G	ENSP00000287097:p.Lys244Glu		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	2.464	-0.323558	0.05350	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.19938	2.11;2.28;2.11	5.16	3.99	0.46301	.	1.797440	0.02279	N	0.069181	T	0.04092	0.0114	N	0.21282	0.65	0.09310	N	1	B;B;B;B	0.15141	0.012;0.003;0.0;0.004	B;B;B;B	0.15052	0.005;0.012;0.005;0.003	T	0.32107	-0.9919	10	0.07990	T	0.79	.	6.4719	0.22013	0.7626:0.1561:0.0813:0.0	.	167;244;244;244	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	E	244;167;244	ENSP00000388062:K244E;ENSP00000404475:K167E;ENSP00000287097:K244E	ENSP00000287097:K244E	K	+	1	0	CD109	74525444	0.418000	0.25440	0.297000	0.24988	0.653000	0.38743	1.828000	0.39111	0.984000	0.38629	0.379000	0.24179	AAG		0.313	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		G	74468723	A	G	74468723	3	3	21	1	0	0	0	0	1	0	0	0	2963	363	13	4	756	4	CD109	6	74468723	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	30247458	74468723	96646344	35	1595											
AEBP1	165	mdanderson.org	37	chr7	44147485	44147485	+	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	ccgagcgggtctggccagagCcccctgaggagaaggccccg	7	3	16	15	3	1	3	0	1	1	2	1	5	1	3	6	4	2	0	6	4	1	0	rs2537188	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:44147485C>A	ENST00000223357.3	+	5	1122	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	273	Pro-rich.		P -> T (in dbSNP:rs2537188).		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CTGGCCAGAGCCCCCTGAGGA	0.697													C|||	1790	0.357428	0.3684	0.2695	5008	,	,		13134	0.2738		0.3519	False		,,,				2504	0.4969					.											0								C	THR/PRO	1512,2824		285,942,941	10	13	12		817	1.4	0.1	7	dbSNP_100	12	3187,5327		639,1909,1709	no	missense	AEBP1	NM_001129.3	38	924,2851,2650	AA,AC,CC		37.4325,34.8708,36.5681	possibly-damaging	273/1159	44147485	4699,8151	2168	4257	6425	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.817C>A	7.37:g.44147485C>A	ENSP00000223357:p.Pro273Thr		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	697	0.3191391941391941	148	0.3008130081300813	113	0.31215469613259667	155	0.270979020979021	281	0.370712401055409	C	8.109	0.778353	0.16120	0.348708	0.374325	ENSG00000106624	ENST00000223357	T	0.39997	1.05	4.54	1.41	0.22369	.	7.491200	0.00166	N	0.000008	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	9.000000000036756E-6	B	0.19817	0.039	B	0.14023	0.01	T	0.34950	-0.9808	9	0.48119	T	0.1	-0.4184	7.7789	0.29054	0.1715:0.4951:0.3335:0.0	rs2537188;rs60349212	273	Q8IUX7	AEBP1_HUMAN	T	273	ENSP00000223357:P273T	ENSP00000223357:P273T	P	+	1	0	AEBP1	44114010	0.001000	0.12720	0.074000	0.20217	0.361000	0.29550	0.387000	0.20718	0.318000	0.23185	0.491000	0.48974	CCC		0.697	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44147485	C	A	44147485	3	1	21	1	0	0	0	0	1	0	0	0	349	739	26	5	835	5	AEBP1	7	44147485	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		44147485	114991178	36	1596											
NAMPT	10135	mdanderson.org	37	chr7	105903965	105903965	+	Missense_Mutation	SNP	T	T	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	cacacgcattataaatgtcaTagctatcgctgaccacagat	14	10	6	11	2	1	2	1	1	0	1	2	2	1	2	1	0	1	3	1	0	5	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:105903965T>C	ENST00000222553.3	-	7	1149	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	NAMPT_ENST00000354289.4_Missense_Mutation_p.Y281C	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	281					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						ATAAATGTCATAGCTATCGCT	0.378																																						.											0													126	118	120					7																	105903965		2203	4300	6503	SO:0001583	missense	10135			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.842A>G	7.37:g.105903965T>C	ENSP00000222553:p.Tyr281Cys		A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402609	0.83230	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	5.54	5.54	0.83059	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	H	0.95539	3.685	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.91052	0.4879	9	0.87932	D	0	-0.9235	15.9649	0.79961	0.0:0.0:0.0:1.0	.	194;262;281	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	C	281	.	ENSP00000222553:Y281C	Y	-	2	0	NAMPT	105691201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.232000	0.73038	0.533000	0.62120	TAT		0.378	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		C	105903965	T	C	105903965	3	2	21	1	0	0	0	0	1	0	0	0	10149	1406	49	4	653	4	NAMPT	7	105903965	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	61756480	105903965	53234698	37	1597											
BCAP29	55973	mdanderson.org	37	chr7	107253813	107253813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgatgtgatggaaatgaAgatgcagtcagagagacttt	16	10	12	3	0	1	6	1	3	0	3	1	8	1	7	0	1	1	1	0	1	3	1			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:107253813A>G	ENST00000005259.4	+	7	965	c.626A>G	c.(625-627)aAg>aGg	p.K209R	BCAP29_ENST00000379117.2_Missense_Mutation_p.K209R|BCAP29_ENST00000465919.1_Missense_Mutation_p.K115R|BCAP29_ENST00000445771.2_Missense_Mutation_p.K209R|BCAP29_ENST00000379119.2_Missense_Mutation_p.K209R|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379121.2_Missense_Mutation_p.K115R	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	209					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ATGGAAATGAAGATGCAGTCA	0.328																																						.											0													84	82	83					7																	107253813		2203	4300	6503	SO:0001583	missense	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.626A>G	7.37:g.107253813A>G	ENSP00000005259:p.Lys209Arg		G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589608	0.28357	.	.	ENSG00000075790	ENST00000005259;ENST00000465919;ENST00000445771;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	T	0.44881	0.91	5.08	3.93	0.45458	.	0.183317	0.56097	D	0.000024	T	0.34948	0.0915	L	0.54908	1.71	0.58432	D	0.999997	B;B;B	0.23442	0.047;0.035;0.085	B;B;B	0.26094	0.033;0.066;0.066	T	0.10613	-1.0622	10	0.25106	T	0.35	0.119	7.3851	0.26878	0.903:0.0:0.097:0.0	.	209;209;209	G5E9L4;C9JTE9;Q9UHQ4	.;.;BAP29_HUMAN	R	209;115;209;209;209;209;166;115	ENSP00000368416:K115R	ENSP00000005259:K209R	K	+	2	0	BCAP29	107041049	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.274000	0.43390	0.969000	0.38237	0.454000	0.30748	AAG		0.328	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		G	107253813	A	G	107253813	3	3	21	1	0	0	0	0	1	0	0	0	1346	72	3	2	648	2	BCAP29	7	107253813	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	1349848	107253813	51884850	38	1598											
PAX4	5078	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	127255519	127255519	+	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	ctagccgcacaatctgctgcCgggtatccagaggcaggggc	8	6	14	13	2	1	1	0	0	1	1	2	1	2	1	3	4	3	4	3	4	3	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:127255519C>T	ENST00000341640.2	-	1	261	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	PAX4_ENST00000338516.3_Missense_Mutation_p.R27Q|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Missense_Mutation_p.R19Q	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	27	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AATCTGCTGCCGGGTATCCAG	0.587																																					Ovarian(113;737 1605 7858 27720 34092)	.											0													84	87	86					7																	127255519		2203	4300	6503	SO:0001583	missense	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.56G>A	7.37:g.127255519C>T	ENSP00000339906:p.Arg19Gln		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556378	0.96514	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	D;D	0.99867	-7.31;-7.31	5.73	5.73	0.89815	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	M	0.84846	2.72	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96679	0.9502	10	0.87932	D	0	.	17.4002	0.87458	0.0:1.0:0.0:0.0	.	19;27	O43316-4;O43316	.;PAX4_HUMAN	Q	19;27;27	ENSP00000339906:R19Q;ENSP00000344297:R27Q	ENSP00000344297:R27Q	R	-	2	0	PAX4	127042755	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.609000	0.82925	2.693000	0.91896	0.655000	0.94253	CGG		0.587	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			T	127255519	C	T	127255519	3	4	21	1	0	0	0	0	1	0	0	0	11481	652	23	1	1011	1	PAX4	7	127255519	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	20001706	127255519	31883144	39	1599											
SSPO	23145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	149486388	149486388	+	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	1	0	0	0	0	0	0	0	0	gagctatccgtgcccccaggGcttgctggcctgtgccgatg	4	9	14	14	2	0	0	0	0	0	0	1	2	1	0	5	2	4	3	5	2	1	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:149486388G>T	ENST00000378016.2	+	0	4364							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)			TGCCCCCAGGGCTTGCTGGCC	0.677																																						.											0													23	27	26					7																	149486388		2197	4295	6492			23145			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.149486388G>T			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149486388	G	T	149486388	1	4	21	0	1	0	0	0	0	0	0	0	15188	1203	42	5		5	SSPO	7	149486388	RNA	SNP	G	TCGA-KL-8343-01A-11D-2310-10	22230869	149486388	9652275	40	1600											
ZFHX4	79776	broad.mit.edu;mdanderson.org	37	chr8	77763344	77763344	+	Missense_Mutation	SNP	A	A	G																															ttctgaccgtcatgtctacaAgtatcgctgtaaccattgta																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:77763344A>G	ENST00000521891.2	+	10	4635	c.4187A>G	c.(4186-4188)aAg>aGg	p.K1396R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1351R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1370R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1351R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1351					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)			CATGTCTACAAGTATCGCTGT	0.428										HNSCC(33;0.089)																												.											0													93	88	90					8																	77763344		1895	4117	6012	SO:0001583	missense	79776				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.4187A>G	8.37:g.77763344A>G	ENSP00000430497:p.Lys1396Arg		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781160	0.49891	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55413	0.52;0.6;0.56;0.55	4.65	4.65	0.58169	.	0.000000	0.46758	U	0.000279	T	0.71316	0.3325	M	0.76002	2.32	0.58432	D	0.999996	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.77557	0.978;0.99;0.99	T	0.75425	-0.3322	10	0.66056	D	0.02	.	14.5713	0.68213	1.0:0.0:0.0:0.0	.	1351;1351;1396	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	1396;1396;1351;1351;1370	ENSP00000430497:K1396R;ENSP00000399605:K1351R;ENSP00000050961:K1351R;ENSP00000430848:K1370R	ENSP00000050961:K1351R	K	+	2	0	ZFHX4	77925899	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.087000	0.94110	2.096000	0.63516	0.454000	0.30748	AAG		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77763344	A	G	77763344	3	3	21	1	0	0	0	0	1	0	0	0	17632	72	3	2	4221	2	ZFHX4	8	77763344	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		77763344	68600678	41	1601	43	2									
ZFHX4	79776	mdanderson.org;bcgsc.ca	37	chr8	77763346	77763346	+	Missense_Mutation	SNP	T	T	C																															ctgaccgtcatgtctacaagTatcgctgtaaccattgtagc																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:77763346T>C	ENST00000521891.2	+	10	4637	c.4189T>C	c.(4189-4191)Tat>Cat	p.Y1397H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y1352H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y1371H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y1352H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1352					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)			TGTCTACAAGTATCGCTGTAA	0.433										HNSCC(33;0.089)																												.											0													94	89	90					8																	77763346		1894	4118	6012	SO:0001583	missense	79776				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.4189T>C	8.37:g.77763346T>C	ENSP00000430497:p.Tyr1397His		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091083	0.36855	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.40469	U	0.001088	T	0.44787	0.1310	M	0.83953	2.67	0.49582	D	0.999804	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.17722	0.005;0.019;0.019	T	0.51004	-0.8760	10	0.72032	D	0.01	.	14.5713	0.68213	0.0:0.0:0.0:1.0	.	1352;1352;1397	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1397;1397;1352;1352;1371	ENSP00000430497:Y1397H;ENSP00000399605:Y1352H;ENSP00000050961:Y1352H;ENSP00000430848:Y1371H	ENSP00000050961:Y1352H	Y	+	1	0	ZFHX4	77925901	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.086000	0.71352	2.096000	0.63516	0.454000	0.30748	TAT		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77763346	T	C	77763346	3	2	21	1	0	0	0	0	1	0	0	0	17632	1638	57	2	4223	2	ZFHX4	8	77763346	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	2	77763346	68600676	42	1602	43	2									
PABPC1	26986	mdanderson.org	37	chr8	101730065	101730065	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagctgcttcctgcgTctcaaagtgtacaaatccat	9	14	6	12	1	3	0	2	0	2	0	6	0	5	0	2	0	4	3	2	0	3	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:101730065T>C	ENST00000318607.5	-	3	1567	c.439A>G	c.(439-441)Acg>Gcg	p.T147A	PABPC1_ENST00000522387.1_Missense_Mutation_p.T115A|PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Missense_Mutation_p.T102A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	147	RRM 2. {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)			GCTTCCTGCGTCTCAAAGTGT	0.333																																						.											0													92	87	89					8																	101730065		2203	4300	6503	SO:0001583	missense	26986			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.439A>G	8.37:g.101730065T>C	ENSP00000313007:p.Thr147Ala		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.960720|3.960720	0.74016|0.74016	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000523555|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196	.|D;D;T;T	.|0.87256	.|-2.23;-2.23;2.25;2.25	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.85775|0.85775	0.5775|0.5775	L|L	0.31804|0.31804	0.96|0.96	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;P	.|0.46020	.|0.535;0.309;0.871	.|P;B;P	.|0.49451	.|0.611;0.135;0.513	D|D	0.87858|0.87858	0.2662|0.2662	5|10	.|0.87932	.|D	.|0	.|.	15.6618|15.6618	0.77193|0.77193	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|115;147;147	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	G|A	93|147;147;102;115;102	.|ENSP00000313007:T147A;ENSP00000429594:T102A;ENSP00000429395:T115A;ENSP00000430159:T102A	.|ENSP00000313007:T147A	D|T	-|-	2|1	0|0	PABPC1|PABPC1	101799241|101799241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.010000|8.010000	0.88615|0.88615	2.167000|2.167000	0.68274|0.68274	0.528000|0.528000	0.53228|0.53228	GAC|ACG		0.333	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		C	101730065	T	C	101730065	3	2	21	1	0	0	0	0	1	0	0	0	11363	1667	58	2	1519	2	PABPC1	8	101730065	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	23966719	101730065	44633957	43	1603											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-																															cgtgtccttcccgccgccccGgggtcaccctgcccgccggc																								rs398009582|rs71302978		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1					.											0										1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569			AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG			B2R520|Q6ZMD9	Frame_Shift_Del	DEL	ENST00000276681.6	37																																																																																					0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	21	1	0	1	0	1	0	0	1	0	9200	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-KL-8343-01A-11D-2310-10	18490711	120220776	26143246	44	1604											
TIGD5	84948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	144680424	144680424	+	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	actcagcgcaagaagatgcgGctggccaacgaggaggagat	13	4	15	9	3	1	3	1	0	0	3	1	6	1	4	1	4	3	2	1	4	3	0			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:144680424G>T	ENST00000504548.2	+	1	351	c.351G>T	c.(349-351)cgG>cgT	p.R117R	EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|TIGD5_ENST00000321385.3_Silent_p.R68R|EEF1D_ENST00000528610.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	117	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					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)			AGAAGATGCGGCTGGCCAACG	0.711																																						.											0													16	15	16					8																	144680424		2171	4274	6445	SO:0001819	synonymous_variant	84948			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.351G>T	8.37:g.144680424G>T			E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Silent	SNP	ENST00000504548.2	37	CCDS6406.2																																																																																				0.711	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		T	144680424	G	T	144680424	2	4	21	1	0	0	0	0	0	0	0	1	15896	1190	42	5		5	TIGD5	8	144680424	Silent	SNP	G	TCGA-KL-8343-01A-11D-2310-10	24459648	144680424	1683598	45	1605											
FGD3	89846	ucsc.edu	37	chr9	95792199	95792199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaccagacgtgacaaggAgaagcagagctgtaagagct	16	5	13	7	1	0	6	0	1	0	5	0	7	0	6	1	1	3	4	1	1	4	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr9:95792199A>G	ENST00000375482.3	+	15	2097	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	FGD3_ENST00000416701.2_Missense_Mutation_p.E534G|FGD3_ENST00000337352.6_Missense_Mutation_p.E534G|FGD3_ENST00000538555.1_Missense_Mutation_p.E137G	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	534					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						CGTGACAAGGAGAAGCAGAGC	0.537																																						.											0													111	115	114					9																	95792199		2094	4227	6321	SO:0001583	missense	89846			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.1601A>G	9.37:g.95792199A>G	ENSP00000364631:p.Glu534Gly		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171529	0.78452	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.64	4.64	0.57946	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	0.33057	N	0.005326	D	0.83151	0.5192	M	0.64630	1.985	0.52501	D	0.999958	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.84793	0.0780	10	0.72032	D	0.01	.	12.3041	0.54891	1.0:0.0:0.0:0.0	.	534;534	F8W7P2;Q5JSP0	.;FGD3_HUMAN	G	534;534;534;137	ENSP00000364631:E534G;ENSP00000413833:E534G;ENSP00000336914:E534G;ENSP00000442560:E137G	ENSP00000336914:E534G	E	+	2	0	FGD3	94832020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.006000	0.76329	1.875000	0.54330	0.459000	0.35465	GAG		0.537	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		G	95792199	A	G	95792199	3	3	21	1	0	0	0	0	1	0	0	0	5834	304	11	2	1651	2	FGD3	9	95792199	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		95792199	45421232	46	1606											
PFKFB3	5209	ucsc.edu	37	chr10	6261653	6261653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaccccgacaaatgcgAcaggtgattcccgtggctgg	8	7	12	14	4	0	1	0	1	0	0	2	4	1	1	4	3	1	1	4	3	1	1			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr10:6261653A>G	ENST00000379775.4	+	7	950	c.620A>G	c.(619-621)gAc>gGc	p.D207G	PFKFB3_ENST00000317350.4_Missense_Mutation_p.D207G|PFKFB3_ENST00000540253.1_Missense_Mutation_p.D221G|PFKFB3_ENST00000379789.4_Missense_Mutation_p.D187G|PFKFB3_ENST00000379785.1_Missense_Mutation_p.D207G|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_Missense_Mutation_p.D207G|PFKFB3_ENST00000379782.3_Missense_Mutation_p.D207G	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	207	6-phosphofructo-2-kinase.				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						GACAAATGCGACAGGTGATTC	0.507																																						.											0													69	68	69					10																	6261653		2203	4300	6503	SO:0001583	missense	5209				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.620A>G	10.37:g.6261653A>G	ENSP00000369100:p.Asp207Gly		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755617	0.69648	.	.	ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.56	5.56	0.83823	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.999	D;D;D;D	0.97110	1.0;0.999;0.973;0.999	D	0.87133	0.2198	9	0.87932	D	0	-4.2194	15.7063	0.77583	1.0:0.0:0.0:0.0	.	221;207;207;187	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	G	187;221;207;207;207;207;207;207	.	ENSP00000369105:D207G	D	+	2	0	PFKFB3	6301659	1.000000	0.71417	0.982000	0.44146	0.229000	0.25112	9.097000	0.94193	2.111000	0.64477	0.482000	0.46254	GAC		0.507	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			G	6261653	A	G	6261653	3	3	21	1	0	0	0	0	1	0	0	0	11762	275	10	2	666	2	PFKFB3	10	6261653	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10		6261653	129273094	47	1607											
CHST3	9469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	73767938	73767938	+	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	gggccgctgcagaaggcccgCgagatgtaccgcttcgccgg	6	5	16	14	6	0	2	0	0	0	2	1	3	0	2	4	3	2	4	4	3	2	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr10:73767938C>T	ENST00000373115.4	+	3	1586	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	383					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						AGAAGGCCCGCGAGATGTACC	0.701																																						.											0													8	9	9					10																	73767938		2054	4025	6079	SO:0001819	synonymous_variant	9469			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.1149C>T	10.37:g.73767938C>T			O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	CCDS7312.1																																																																																				0.701	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		T	73767938	C	T	73767938	2	4	21	1	0	0	0	0	0	0	0	1	3405	755	27	1		1	CHST3	10	73767938	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	67506285	73767938	61766809	48	1608											
KIF11	3832	ucsc.edu	37	chr10	94399586	94399586	+	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	atgaatctttggacagagagAttctgtgctttggaggaaaa	13	12	12	4	0	2	3	0	1	2	2	2	7	2	6	0	3	1	1	0	3	3	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr10:94399586A>G	ENST00000260731.3	+	17	2286	c.2196A>G	c.(2194-2196)agA>agG	p.R732R		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	732					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACAGAGAGATTCTGTGCTT	0.333																																					Colon(47;212 1003 2764 4062 8431)	.											0													109	117	114					10																	94399586		2203	4297	6500	SO:0001819	synonymous_variant	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2196A>G	10.37:g.94399586A>G			A0AV49|B2RMV3|Q15716|Q5VWX0	Silent	SNP	ENST00000260731.3	37	CCDS7422.1																																																																																				0.333	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		G	94399586	A	G	94399586	2	3	21	1	0	0	0	0	0	0	0	1	8272	330	12	4		4	KIF11	10	94399586	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10	20631648	94399586	41135161	49	1609											
NLRP6	171389	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	281811	281811	+	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	agaagaagagcctggggaagCggctccaggccagcctgggt	10	4	17	10	1	0	3	0	0	0	3	1	4	1	4	4	5	3	1	4	5	3	0			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:281811C>T	ENST00000312165.5	+	4	2077	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	NLRP6_ENST00000534750.1_Missense_Mutation_p.R693W	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	693					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)		CCTGGGGAAGCGGCTCCAGGC	0.617																																						.											0													27	34	32					11																	281811		2200	4296	6496	SO:0001583	missense	171389			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.2077C>T	11.37:g.281811C>T	ENSP00000309767:p.Arg693Trp		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120457	0.37436	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75050	-0.9;-0.86	3.22	-0.952	0.10366	.	5.443360	0.00881	U	0.002125	D	0.83115	0.5184	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.967;0.99	T	0.64694	-0.6347	10	0.62326	D	0.03	.	6.2588	0.20889	0.0:0.4948:0.0:0.5052	.	693;693	E9PJZ8;P59044	.;NALP6_HUMAN	W	693	ENSP00000433617:R693W;ENSP00000309767:R693W	ENSP00000309767:R693W	R	+	1	2	NLRP6	271811	0.001000	0.12720	0.001000	0.08648	0.751000	0.42716	-0.508000	0.06344	-0.183000	0.10585	0.462000	0.41574	CGG		0.617	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		T	281811	C	T	281811	3	4	21	1	0	0	0	0	1	0	0	0	10481	759	27	1	2091	1	NLRP6	11	281811	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		281811	134724705	50	1610											
DEAF1	10522	broad.mit.edu	37	chr11	694933	694934	+	Frame_Shift_Ins	INS	-	-	AG																															tccctgctcagcaccggctcINSctccgcctcgcctcctgccg																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:694933_694934insAG	ENST00000382409.3	-	1	598_599	c.114_115insCT	c.(112-117)gaggagfs	p.E39fs	DEAF1_ENST00000338675.6_Frame_Shift_Ins_p.E39fs|TMEM80_ENST00000397512.3_5'Flank|TMEM80_ENST00000397510.3_5'Flank|TMEM80_ENST00000608174.1_5'Flank	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	39	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGCACCGGCTCCTCCGCCTCGC	0.782																																						.											0																																										SO:0001589	frameshift_variant	10522			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.114_115insCT	11.37:g.694933_694934insAG	ENSP00000371846:p.Glu39fs		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Frame_Shift_Ins	INS	ENST00000382409.3	37	CCDS31327.1																																																																																				0.782	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		AG	694934	-	AG	694933	7	5	21	1	0	1	1	0	0	0	0	0	4380	864	30	0	1630	0	DEAF1	11	694933	Frame_Shift_Ins	INS	-	TCGA-KL-8343-01A-11D-2310-10	413122	694933	134311583	51	1611											
CTSD	1509	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	1774767	1774767	+	Missense_Mutation	SNP	T	T	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	cctcggcgaagcccaccctgTtgttgtcacggtcaaacaca	9	8	9	15	3	2	0	2	0	0	0	3	1	2	0	3	2	2	2	3	2	2	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:1774767T>C	ENST00000236671.2	-	9	1337	c.1205A>G	c.(1204-1206)aAc>aGc	p.N402S	IFITM10_ENST00000340134.4_5'Flank|RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	402					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)"	GCCCACCCTGTTGTTGTCACG	0.652																																						.											0													54	59	57					11																	1774767		2202	4298	6500	SO:0001583	missense	1509			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.1205A>G	11.37:g.1774767T>C	ENSP00000236671:p.Asn402Ser		Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	t	15.40	2.823084	0.50739	.	.	ENSG00000117984	ENST00000236671;ENST00000429746	T;T	0.59224	0.28;0.33	3.75	3.75	0.43078	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.250635	0.43416	D	0.000580	T	0.56352	0.1979	M	0.64404	1.975	0.58432	D	0.999999	P	0.45531	0.86	B	0.43082	0.407	T	0.61217	-0.7107	10	0.45353	T	0.12	.	12.9513	0.58403	0.0:0.0:0.0:1.0	.	402	P07339	CATD_HUMAN	S	402;179	ENSP00000236671:N402S;ENSP00000402586:N179S	ENSP00000236671:N402S	N	-	2	0	CTSD	1731343	1.000000	0.71417	0.550000	0.28217	0.558000	0.35554	7.268000	0.78473	1.721000	0.51461	0.254000	0.18369	AAC		0.652	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		C	1774767	T	C	1774767	3	2	21	1	0	0	0	0	1	0	0	0	4032	1725	60	2	37	2	CTSD	11	1774767	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	1079834	1774767	133231749	52	1612											
MICALCL	84953	broad.mit.edu	37	chr11	12315174	12315175	+	Frame_Shift_Ins	INS	-	-	G																															tcctcccaccccaaactttcINSggaggcgagccgtagcccaa																								rs148792670	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:12315174_12315175insG	ENST00000256186.2	+	3	487_488	c.196_197insG	c.(196-198)cggfs	p.R66fs		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	66	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.R66W(1)		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)		CCCAAACTTTCGGAGGCGAGCC	0.55																																						.											1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	84953			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.198dupG	11.37:g.12315176_12315176dupG	ENSP00000256186:p.Arg66fs		Q7RTP7|Q96JU6	Frame_Shift_Ins	INS	ENST00000256186.2	37	CCDS41620.1																																																																																				0.55	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		G	12315175	-	G	12315174	7	5	21	1	0	1	1	0	0	0	0	0	9572	875	31	0	202	0	MICALCL	11	12315174	Frame_Shift_Ins	INS	-	TCGA-KL-8343-01A-11D-2310-10	10540407	12315174	122691342	53	1613											
RCN1	5954	broad.mit.edu;hgsc.bcm.edu	37	chr11	32118784	32118784	+	Frame_Shift_Del	DEL	T	T	-																															gggtgcagaaaagatacatcTttgataatgtcgccaaagtc																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:32118784delT	ENST00000054950.3	+	2	642	c.349delT	c.(349-351)tttfs	p.F117fs	RCN1_ENST00000532942.1_Frame_Shift_Del_p.F66fs|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	117	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		F -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)					AAGATACATCTTTGATAATGT	0.428																																						.											0													62	57	59					11																	32118784		2202	4296	6498	SO:0001589	frameshift_variant	5954			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.349delT	11.37:g.32118784delT	ENSP00000054950:p.Phe117fs		B7Z1M1|D3DR00	Frame_Shift_Del	DEL	ENST00000054950.3	37	CCDS7876.1																																																																																				0.428	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		-	32118784	T	-	32118784	7	5	21	1	0	1	0	1	0	0	0	0	13179	1609	56	0	355	0	RCN1	11	32118784	Frame_Shift_Del	DEL	T	TCGA-KL-8343-01A-11D-2310-10	19803610	32118784	102887732	54	1614	44	2									
RCN1	5954	bcgsc.ca	37	chr11	32118785	32118785	+	Frame_Shift_Del	DEL	T	T	-																															ggtgcagaaaagatacatctTtgataatgtcgccaaagtct																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:32118785delT	ENST00000054950.3	+	2	643	c.350delT	c.(349-351)tttfs	p.F117fs	RCN1_ENST00000532942.1_Frame_Shift_Del_p.F66fs|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	117	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		F -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)					AGATACATCTTTGATAATGTC	0.423																																						.											0													63	57	59					11																	32118785		2202	4296	6498	SO:0001589	frameshift_variant	5954			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.350delT	11.37:g.32118785delT	ENSP00000054950:p.Phe117fs		B7Z1M1|D3DR00	Frame_Shift_Del	DEL	ENST00000054950.3	37	CCDS7876.1																																																																																				0.423	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		-	32118785	T	-	32118785	7	5	21	1	0	1	0	1	0	0	0	0	13179	1841	64	0	356	0	RCN1	11	32118785	Frame_Shift_Del	DEL	T	TCGA-KL-8343-01A-11D-2310-10	1	32118785	102887731	55	1615	44	2									
SLC25A45	283130	mdanderson.org;bcgsc.ca	37	chr11	65144406	65144406	+	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	ggctcctcggaacagcccccGgggcccctcctcccggaaga	6	4	12	19	3	0	1	0	0	0	1	4	3	3	3	7	5	2	1	7	5	2	0	rs34377244	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:65144406G>A	ENST00000527174.1	-	5	536	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	SLC25A45_ENST00000398802.1_Missense_Mutation_p.R161W|SLC25A45_ENST00000360662.3_Missense_Mutation_p.R137W|SLC25A45_ENST00000377152.2_Missense_Mutation_p.R57W|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000534028.1_Missense_Mutation_p.R137W|SLC25A45_ENST00000526432.1_Missense_Mutation_p.R99W|SLC25A45_ENST00000294187.6_Missense_Mutation_p.R119W|SLC25A45_ENST00000417511.2_Missense_Mutation_p.R119W			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	161					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						AACAGCCCCCGGGGCCCCTCC	0.672													G|||	26	0.00519169	0.0182	0.0029	5008	,	,		14885	0		0	False		,,,				2504	0					.											0								G	TRP/ARG,TRP/ARG	39,3711		0,39,1836	38	42	40		355,481	1	0.2	11	dbSNP_126	40	0,8204		0,0,4102	no	missense,missense	SLC25A45	NM_001077241.1,NM_182556.2	101,101	0,39,5938	AA,AG,GG		0.0,1.04,0.3263	benign,benign	119/247,161/289	65144406	39,11915	1875	4102	5977	SO:0001583	missense	283130			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.481C>T	11.37:g.65144406G>A	ENSP00000435489:p.Arg161Trp		Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	CCDS41670.1	14	0.00641025641025641	9	0.018292682926829267	5	0.013812154696132596	0	0.0	0	0.0	G	11.01	1.514063	0.27123	0.0104	0.0	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.23	1.02	0.19986	Mitochondrial carrier domain (2);	0.754501	0.12173	N	0.492860	T	0.64789	0.2630	M	0.83118	2.625	0.09310	N	1	B;B;B	0.22800	0.027;0.027;0.075	B;B;B	0.21546	0.029;0.013;0.035	T	0.63229	-0.6684	10	0.40728	T	0.16	-1.2411	3.8445	0.08928	0.2378:0.0:0.4608:0.3015	rs34377244	99;137;161	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	W	161;137;161;137;57;119;119;99	ENSP00000435489:R161W;ENSP00000431769:R137W;ENSP00000381782:R161W;ENSP00000353879:R137W;ENSP00000366357:R57W;ENSP00000294187:R119W;ENSP00000407530:R119W;ENSP00000435547:R99W	ENSP00000294187:R119W	R	-	1	2	SLC25A45	64900982	0.000000	0.05858	0.177000	0.23020	0.632000	0.37999	0.441000	0.21611	0.267000	0.21916	0.561000	0.74099	CGG		0.672	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		A	65144406	G	A	65144406	3	1	21	1	0	0	0	0	1	0	0	0	14510	1115	39	1	393	1	SLC25A45	11	65144406	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	33025621	65144406	69862110	56	1616											
CHRDL2	25884	broad.mit.edu;hgsc.bcm.edu	37	chr11	74408313	74408316	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															ctggaagtcttgcttcctgaCtttcttgatctgagtcaagt																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	CTTT	CTTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:74408313_74408316delCTTT	ENST00000376332.3	-	10	1643_1646	c.1147_1150delAAAG	c.(1147-1152)aaagtcfs	p.KV383fs	CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.ES401fs	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	383					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)					TGCTTCCTGACTTTCTTGATCTGA	0.544																																						.											0																																										SO:0001589	frameshift_variant	25884			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.1147_1150delAAAG	11.37:g.74408313_74408316delCTTT	ENSP00000365510:p.Lys383fs		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Frame_Shift_Del	DEL	ENST00000376332.3	37																																																																																					0.544	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			-	74408316	CTTT	-	74408313	7	5	21	1	0	1	0	1	0	0	0	0	3374	565	20	0	158	0	CHRDL2	11	74408313	Frame_Shift_Del	DEL	CTTT	TCGA-KL-8343-01A-11D-2310-10	9263907	74408313	60598203	57	1617	45	2									
CHRDL2	25884	bcgsc.ca	37	chr11	74408314	74408317	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															tggaagtcttgcttcctgacTttcttgatctgagtcaagtg																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	CTTT	CTTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:74408314_74408317delCTTT	ENST00000376332.3	-	10	1642_1645	c.1146_1149delAAAG	c.(1144-1149)aaaaagfs	p.KK382fs	CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.KG401fs	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	382					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)					GCTTCCTGACTTTCTTGATCTGAG	0.544																																						.											0																																										SO:0001589	frameshift_variant	25884			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.1146_1149delAAAG	11.37:g.74408314_74408317delCTTT	ENSP00000365510:p.Lys382fs		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Frame_Shift_Del	DEL	ENST00000376332.3	37																																																																																					0.544	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			-	74408317	CTTT	-	74408314	7	5	21	1	0	1	0	1	0	0	0	0	3374	1609	56	0	159	0	CHRDL2	11	74408314	Frame_Shift_Del	DEL	CTTT	TCGA-KL-8343-01A-11D-2310-10	1	74408314	60598202	58	1618	45	2									
FOLH1B	219595	broad.mit.edu	37	chr11	89420569	89420569	+	RNA	DEL	A	A	-																															ctctttatgaaagttggactAaaaaaagtccttccccagag																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:89420569delA	ENST00000532352.1	+	0	1384							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGTTGGACTAAAAAAAGTCC	0.343																																						.											0													57	59	58					11																	89420569		2201	4296	6497			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89420569delA				Frame_Shift_Del	DEL	ENST00000532352.1	37																																																																																					0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		-	89420569	A	-	89420569	6	5	21	0	1	1	0	1	0	0	0	0	5980	363	13	0		0	FOLH1B	11	89420569	RNA	DEL	A	TCGA-KL-8343-01A-11D-2310-10	15012255	89420569	45585947	59	1619											
TRIM49	57093	mdanderson.org	37	chr11	89537461	89537461	+	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	gttttgaggtttatctgctcGgttgactttgtgcattcaga	6	18	11	6	1	2	3	1	2	1	1	3	3	2	3	0	2	2	5	0	2	1	7	rs368472876		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:89537461G>T	ENST00000329758.1	-	3	505	c.177C>A	c.(175-177)acC>acA	p.T59T	TRIM49_ENST00000532501.2_Silent_p.T59T	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	59						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTATCTGCTCGGTTGACTTTG	0.458																																						.											0													140	125	130					11																	89537461		2191	4297	6488	SO:0001819	synonymous_variant	57093			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.177C>A	11.37:g.89537461G>T			A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		T	89537461	G	T	89537461	2	4	21	1	0	0	0	0	0	0	0	1	16521	1103	39	5		5	TRIM49	11	89537461	Silent	SNP	G	TCGA-KL-8343-01A-11D-2310-10	116892	89537461	45469055	60	1620											
ETNK1	55500	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	22824236	22824236	+	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	gttcattgattatgaatattCtggatacaactacctggcat	12	15	7	7	0	2	2	1	2	1	0	2	3	2	3	1	2	3	2	1	2	6	7			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr12:22824236C>T	ENST00000266517.4	+	5	1087	c.998C>T	c.(997-999)tCt>tTt	p.S333F		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	333					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						TATGAATATTCTGGATACAAC	0.303																																					Esophageal Squamous(42;87 913 3224 6226 43339)	.											0													159	174	169					12																	22824236		2203	4299	6502	SO:0001583	missense	55500			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.998C>T	12.37:g.22824236C>T	ENSP00000266517:p.Ser333Phe		G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919183	0.52546	.	.	ENSG00000139163	ENST00000266517;ENST00000381409	T	0.63096	-0.02	5.26	4.35	0.52113	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.282916	0.34555	N	0.003879	T	0.70937	0.3281	M	0.75777	2.31	0.80722	D	1	P;B	0.41498	0.752;0.411	P;B	0.49140	0.601;0.315	T	0.74833	-0.3530	10	0.87932	D	0	-2.5583	13.4388	0.61101	0.0:0.7:0.3:0.0	.	333;333	E9PD44;Q9HBU6	.;EKI1_HUMAN	F	333	ENSP00000266517:S333F	ENSP00000266517:S333F	S	+	2	0	ETNK1	22715503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.224000	0.51238	1.184000	0.42957	0.460000	0.39030	TCT		0.303	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		T	22824236	C	T	22824236	3	4	21	1	0	0	0	0	1	0	0	0	5273	913	32	4	1114	4	ETNK1	12	22824236	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		22824236	111027659	61	1621											
KRT77	374454	broad.mit.edu;bcgsc.ca	37	chr12	53084953	53084953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaacgaggcctctacTccaagatccgcctgtgggag	10	6	13	12	2	1	2	0	0	1	2	3	4	3	3	4	3	2	1	4	3	3	1			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr12:53084953T>C	ENST00000341809.3	-	9	1761	c.1733A>G	c.(1732-1734)gAg>gGg	p.E578G	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.E345G	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	578	Tail.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGCCTCTACTCCAAGATCCG	0.637																																						.											0													51	43	46					12																	53084953		2199	4292	6491	SO:0001583	missense	374454			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1733A>G	12.37:g.53084953T>C	ENSP00000342710:p.Glu578Gly		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619576	0.46736	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.84298	-1.83;-1.54	3.63	1.21	0.21127	.	.	.	.	.	T	0.68430	0.3000	N	0.08118	0	0.25508	N	0.987483	B	0.14012	0.009	B	0.10450	0.005	T	0.58853	-0.7563	9	0.87932	D	0	.	5.486	0.16749	0.0:0.253:0.0:0.747	.	578	Q7Z794	K2C1B_HUMAN	G	578;345	ENSP00000342710:E578G;ENSP00000440803:E345G	ENSP00000342710:E578G	E	-	2	0	KRT77	51371220	1.000000	0.71417	0.840000	0.33206	0.122000	0.20287	1.758000	0.38410	0.125000	0.18397	0.454000	0.30748	GAG		0.637	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		C	53084953	T	C	53084953	3	2	21	1	0	0	0	0	1	0	0	0	8490	1551	54	2	7	2	KRT77	12	53084953	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	30260717	53084953	80766942	62	1622											
LRRC43	254050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	122672370	122672370	+	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	ggccccttggaaagtctctaCgtcaccgctaatcactggta	9	10	9	13	2	3	0	2	0	1	0	4	1	3	1	3	3	1	2	3	3	4	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr12:122672370C>T	ENST00000339777.4	+	4	673	c.645C>T	c.(643-645)taC>taT	p.Y215Y	LRRC43_ENST00000425921.1_Silent_p.Y30Y	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	215										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)		AAAGTCTCTACGTCACCGCTA	0.557																																						.											0													63	64	64					12																	122672370		1930	4135	6065	SO:0001819	synonymous_variant	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.645C>T	12.37:g.122672370C>T			Q6ZVT9	Silent	SNP	ENST00000339777.4	37	CCDS45001.1																																																																																				0.557	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		T	122672370	C	T	122672370	2	4	21	1	0	0	0	0	0	0	0	1	9001	547	19	1		1	LRRC43	12	122672370	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	69587417	122672370	11179525	63	1623											
MYCBP2	23077	ucsc.edu;mdanderson.org	37	chr13	77799637	77799637	+	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	tcaaatcgcacagagcctggAgggtatgttgtgattttgct	9	13	12	7	1	1	2	1	1	0	1	2	3	1	3	1	2	2	4	1	2	2	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr13:77799637A>G	ENST00000544440.2	-	19	2693	c.2676T>C	c.(2674-2676)ccT>ccC	p.P892P	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.P892P|MYCBP2_ENST00000407578.2_Silent_p.P930P					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)		CAGAGCCTGGAGGGTATGTTG	0.443																																						.											0													197	166	176					13																	77799637		2203	4300	6503	SO:0001819	synonymous_variant	23077			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.2676T>C	13.37:g.77799637A>G				Silent	SNP	ENST00000544440.2	37																																																																																					0.443	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77799637	A	G	77799637	2	3	21	1	0	0	0	0	0	0	0	1	10018	291	11	2		2	MYCBP2	13	77799637	Silent	SNP	A	TCGA-KL-8343-01A-11D-2310-10		77799637	37370241	64	1624											
ADCY4	196883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	24793320	24793320	+	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	ggatggtggcggtgcccaagGctattctcagtcctggtcgt	5	11	15	10	2	1	0	1	0	1	0	4	1	2	1	2	6	1	1	2	6	2	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr14:24793320G>C	ENST00000310677.4	-	17	2107	c.1994C>G	c.(1993-1995)gCc>gGc	p.A665G	ADCY4_ENST00000418030.2_Missense_Mutation_p.A665G|ADCY4_ENST00000396747.3_Missense_Mutation_p.A358G|ADCY4_ENST00000554068.2_Missense_Mutation_p.A665G	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	665					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)		GGTGCCCAAGGCTATTCTCAG	0.612																																						.											0													75	67	70					14																	24793320		2203	4300	6503	SO:0001583	missense	196883			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.1994C>G	14.37:g.24793320G>C	ENSP00000312126:p.Ala665Gly		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909293	0.72868	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.79940	-1.13;-1.13;-1.13;-1.32	4.93	4.93	0.64822	.	0.000000	0.46145	D	0.000319	T	0.77096	0.4080	L	0.56769	1.78	0.33050	D	0.532568	B	0.33841	0.428	B	0.33521	0.165	T	0.80372	-0.1410	10	0.25751	T	0.34	.	15.6732	0.77295	0.0:0.0:1.0:0.0	.	665	Q8NFM4	ADCY4_HUMAN	G	665;665;665;358	ENSP00000312126:A665G;ENSP00000452250:A665G;ENSP00000393177:A665G;ENSP00000379971:A358G	ENSP00000312126:A665G	A	-	2	0	ADCY4	23863160	0.979000	0.34478	0.996000	0.52242	0.912000	0.54170	1.769000	0.38522	2.569000	0.86673	0.563000	0.77884	GCC		0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			C	24793320	G	C	24793320	3	2	21	1	0	0	0	0	1	0	0	0	296	1203	42	5	1279	5	ADCY4	14	24793320	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10		24793320	82556220	65	1625											
BAG5	9529	broad.mit.edu	37	chr14	104026528	104026528	+	Frame_Shift_Del	DEL	T	T	-																															tggcttcccggatgcaggggTttttttcaagacttacctca																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr14:104026528delT	ENST00000445922.2	-	2	1220	c.974delA	c.(973-975)aacfs	p.N325fs	APOPT1_ENST00000556253.2_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|BAG5_ENST00000337322.4_Frame_Shift_Del_p.N366fs|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000299204.4_Frame_Shift_Del_p.N325fs|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	325	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GATGCAGGGGTTTTTTTCAAG	0.443																																					NSCLC(171;1832 2055 18950 31566 41632)	.											0													61	65	63					14																	104026528		2203	4300	6503	SO:0001589	frameshift_variant	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.974delA	14.37:g.104026528delT	ENSP00000391713:p.Asn325fs		O94950|Q86W59	Frame_Shift_Del	DEL	ENST00000445922.2	37	CCDS9982.1																																																																																				0.443	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			-	104026528	T	-	104026528	7	5	21	1	0	1	0	1	0	0	0	0	1290	1725	60	0	373	0	BAG5	14	104026528	Frame_Shift_Del	DEL	T	TCGA-KL-8343-01A-11D-2310-10	79233208	104026528	3323012	66	1626											
INO80	54617	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	41313154	41313154	+	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	tgatgctccacagacctccaGctggctctgggaagaactgt	9	9	11	12	0	1	3	0	1	1	2	3	4	3	4	3	2	3	3	3	2	2	0			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr15:41313154G>C	ENST00000361937.3	-	26	3642	c.3218C>G	c.(3217-3219)gCt>gGt	p.A1073G	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.A1073G			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1073	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGACCTCCAGCTGGCTCTGG	0.527																																						.											0													56	55	55					15																	41313154		2203	4300	6503	SO:0001583	missense	54617			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.3218C>G	15.37:g.41313154G>C	ENSP00000355205:p.Ala1073Gly		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941002	0.34283	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91124	-2.79;-2.79	5.35	2.35	0.29111	.	0.344090	0.34223	N	0.004142	T	0.80116	0.4564	N	0.20986	0.625	0.26586	N	0.973289	B	0.11235	0.004	B	0.13407	0.009	T	0.63778	-0.6560	10	0.22109	T	0.4	.	5.7046	0.17901	0.2319:0.0:0.6331:0.135	.	1073	Q9ULG1	INO80_HUMAN	G	1073	ENSP00000355205:A1073G;ENSP00000384686:A1073G	ENSP00000355205:A1073G	A	-	2	0	INO80	39100446	1.000000	0.71417	0.488000	0.27440	0.804000	0.45430	3.923000	0.56469	0.337000	0.23665	-0.345000	0.07892	GCT		0.527	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		C	41313154	G	C	41313154	3	2	21	1	0	0	0	0	1	0	0	0	7746	971	34	5	1496	5	INO80	15	41313154	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10		41313154	61218238	67	1627											
RNF111	54778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	59368246	59368246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttgacccctgctgccctGtttcttcctcccgagctgca	4	13	7	17	1	1	1	0	1	1	0	3	2	3	1	5	0	4	4	5	0	0	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr15:59368246G>T	ENST00000557998.1	+	7	2067	c.1780G>T	c.(1780-1782)Gtt>Ttt	p.V594F	RNF111_ENST00000348370.4_Missense_Mutation_p.V594F|RNF111_ENST00000559209.1_Missense_Mutation_p.V594F|RNF111_ENST00000561186.1_Missense_Mutation_p.V594F|RNF111_ENST00000434298.1_Missense_Mutation_p.V594F	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	594					gene expression (GO:0010467)|pattern specification process (GO:0007389)|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 of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|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 SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTGCTGCCCTGTTTCTTCCTC	0.512																																					NSCLC(72;983 1365 10746 34387 47081)	.											0													95	84	88					15																	59368246		2192	4291	6483	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1780G>T	15.37:g.59368246G>T	ENSP00000452732:p.Val594Phe		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059653	0.76074	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15372	2.43;2.43	5.51	5.51	0.81932	.	0.233772	0.42172	D	0.000741	T	0.13970	0.0338	N	0.14661	0.345	0.48087	D	0.999583	B;B;B	0.27264	0.173;0.087;0.141	B;B;B	0.31686	0.134;0.046;0.1	T	0.15578	-1.0432	10	0.25751	T	0.34	-6.3302	19.7838	0.96428	0.0:0.0:1.0:0.0	.	594;594;594	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	F	594	ENSP00000288199:V594F;ENSP00000393641:V594F	ENSP00000288199:V594F	V	+	1	0	RNF111	57155538	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.146000	0.94640	2.755000	0.94549	0.650000	0.86243	GTT		0.512	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		T	59368246	G	T	59368246	3	4	21	1	0	0	0	0	1	0	0	0	13425	1377	48	5	1802	5	RNF111	15	59368246	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	18055092	59368246	43163146	68	1628											
TMC5	79838	bcgsc.ca	37	chr16	19509242	19509242	+	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	ctttcctgtgtcaaacctagActtgcgatctagaagatcag	11	12	8	10	1	3	3	2	0	1	3	4	4	4	3	2	0	2	0	2	0	4	4			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr16:19509242A>G	ENST00000396229.2	+	22	3724	c.2975A>G	c.(2974-2976)gAc>gGc	p.D992G	TMC5_ENST00000564959.1_Splice_Site_p.D675G|RNU4-46P_ENST00000410818.1_RNA|TMC5_ENST00000381414.4_Splice_Site_p.D934G|TMC5_ENST00000541464.1_Splice_Site_p.D940G|TMC5_ENST00000542583.2_Splice_Site_p.D992G|TMC5_ENST00000219821.5_Splice_Site_p.D746G|TMC5_ENST00000561503.1_Splice_Site_p.D633G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	992					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAAACCTAGACTTGCGATCT	0.458																																						.											0													302	266	278					16																	19509242		2197	4300	6497	SO:0001630	splice_region_variant	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2975-1A>G	16.37:g.19509242A>G			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.27|12.27	1.888056|1.888056	0.33348|0.33348	.|.	.|.	ENSG00000103534|ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821|ENST00000440743	T;T;T;T;T|.	0.69561|.	-0.2;-0.34;-0.31;-0.31;-0.41|.	4.44|4.44	3.35|3.35	0.38373|0.38373	.|.	911.436000|.	0.00913|.	N|.	0.002494|.	T|T	0.48003|0.48003	0.1476|0.1476	L|L	0.44542|0.44542	1.39|1.39	0.34702|0.34702	D|D	0.72684|0.72684	D;D;D;D|.	0.89917|.	1.0;0.998;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.937;0.996;0.998|.	T|T	0.55573|0.55573	-0.8120|-0.8120	9|5	.|.	.|.	.|.	.|.	6.9366|6.9366	0.24470|0.24470	0.8973:0.0:0.1027:0.0|0.8973:0.0:0.1027:0.0	.|.	940;746;992;934|.	F5GYU8;Q6UXY8-3;Q6UXY8;Q6UXY8-2|.	.;.;TMC5_HUMAN;.|.	G|A	940;934;992;992;746|675	ENSP00000441227:D940G;ENSP00000370822:D934G;ENSP00000379531:D992G;ENSP00000446274:D992G;ENSP00000219821:D746G|.	.|.	D|T	+|+	2|1	0|0	TMC5|TMC5	19416743|19416743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.032000|0.032000	0.12392|0.12392	3.612000|3.612000	0.54142|0.54142	1.022000|1.022000	0.39626|0.39626	-0.290000|-0.290000	0.09829|0.09829	GAC|ACT		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	Missense_Mutation	G	19509242	A	G	19509242	5	3	21	1	0	0	0	0	0	0	1	0	15985	289	10	2	3367	2	TMC5	16	19509242	Splice_Site	SNP	A	TCGA-KL-8343-01A-11D-2310-10		19509242	70845511	69	1629											
RLTPR	146206	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	67679167	67679167	+	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	cccatggcccagacccccgaCggcatctcctgtgagctccg	6	6	10	19	3	1	2	0	1	1	1	3	3	2	2	6	2	1	2	6	2	0	0			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr16:67679167C>G	ENST00000334583.6	+	1	346	c.18C>G	c.(16-18)gaC>gaG	p.D6E	RLTPR_ENST00000545661.1_Missense_Mutation_p.D6E	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	6					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)		AGACCCCCGACGGCATCTCCT	0.701																																						.											0													14	17	16					16																	67679167		1879	4091	5970	SO:0001583	missense	146206			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.18C>G	16.37:g.67679167C>G	ENSP00000334958:p.Asp6Glu		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	c	10.99	1.506105	0.26949	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13538	2.6;2.58	4.19	0.764	0.18465	.	0.609572	0.14846	N	0.294975	T	0.04679	0.0127	N	0.08118	0	0.21950	N	0.999451	B;B	0.30763	0.294;0.149	B;B	0.24155	0.051;0.016	T	0.31916	-0.9926	10	0.35671	T	0.21	-11.9051	1.3041	0.02085	0.1712:0.4571:0.1671:0.2046	.	6;6	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	E	6	ENSP00000334958:D6E;ENSP00000441481:D6E	ENSP00000334958:D6E	D	+	3	2	RLTPR	66236668	0.156000	0.22821	0.998000	0.56505	0.966000	0.64601	-0.327000	0.07955	0.467000	0.27218	0.651000	0.88453	GAC		0.701	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		G	67679167	C	G	67679167	3	3	21	1	0	0	0	0	1	0	0	0	13394	535	19	5	20	5	RLTPR	16	67679167	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	48169925	67679167	22675586	70	1630											
ALOX12B	242	broad.mit.edu	37	chr17	7980375	7980375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcctcagcaatgaggTgtgtctccagcaggtgggcg	9	7	16	9	1	2	2	1	1	1	1	3	2	2	2	2	4	2	2	2	4	2	0			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:7980375T>C	ENST00000319144.4	-	9	1468	c.1208A>G	c.(1207-1209)cAc>cGc	p.H403R	ALOX12B_ENST00000577351.1_5'UTR|AC129492.6_ENST00000399413.3_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	403	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						AGCAATGAGGTGTGTCTCCAG	0.622										Multiple Myeloma(8;0.094)																												.											0													57	48	51					17																	7980375		2203	4300	6503	SO:0001583	missense	242			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.1208A>G	17.37:g.7980375T>C	ENSP00000315167:p.His403Arg			Missense_Mutation	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052970	0.55218	.	.	ENSG00000179477	ENST00000319144	D	0.96136	-3.92	4.82	4.82	0.62117	Lipoxygenase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98994	1.0809	10	0.87932	D	0	-37.0536	13.6567	0.62341	0.0:0.0:0.0:1.0	.	403	O75342	LX12B_HUMAN	R	403	ENSP00000315167:H403R	ENSP00000315167:H403R	H	-	2	0	ALOX12B	7921100	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	7.886000	0.87288	1.937000	0.56155	0.260000	0.18958	CAC		0.622	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			C	7980375	T	C	7980375	3	2	21	1	0	0	0	0	1	0	0	0	537	1696	59	2	925	2	ALOX12B	17	7980375	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10		7980375	73214835	71	1631											
SPDYE4	388333	ucsc.edu	37	chr17	8661681	8661681	+	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	tctcctcctcaaacggggggCgcgcttgaccactggccata	7	8	11	15	3	2	1	1	1	1	0	4	1	3	1	4	4	1	1	4	4	2	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:8661681C>T	ENST00000328794.6	-	1	196	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	7										breast(1)|endometrium(2)|kidney(1)	4						AAACGGGGGGCGCGCTTGACC	0.562																																						.											0													22	25	24					17																	8661681		692	1591	2283	SO:0001583	missense	388333			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.20G>A	17.37:g.8661681C>T	ENSP00000329522:p.Arg7His		B2RUZ6	Missense_Mutation	SNP	ENST00000328794.6	37	CCDS45609.1	.	.	.	.	.	.	.	.	.	.	C	0.952	-0.706226	0.03255	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.38	-4.77	0.03219	.	7.820830	0.00424	N	0.000061	T	0.07007	0.0178	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23297	-1.0192	9	0.21540	T	0.41	.	1.1614	0.01806	0.2396:0.3748:0.1786:0.207	.	7	A6NLX3	SPDE4_HUMAN	H	7	.	ENSP00000329522:R7H	R	-	2	0	SPDYE4	8602406	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.285000	0.02791	-3.424000	0.00166	-1.501000	0.00957	CGC		0.562	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		T	8661681	C	T	8661681	3	4	21	1	0	0	0	0	1	0	0	0	15030	768	27	1	717	1	SPDYE4	17	8661681	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	681306	8661681	72533529	72	1632											
C17orf53	78995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	42225428	42225428	+	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	ctgcctccctgcctccagcaCgcccagtgctgacagccgtc	5	7	9	20	2	0	1	0	1	0	0	3	1	2	1	6	0	5	2	6	0	0	0	rs563980398		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:42225428C>A	ENST00000319977.4	+	3	494	c.257C>A	c.(256-258)aCg>aAg	p.T86K	C17orf53_ENST00000245382.6_Missense_Mutation_p.T86K|C17orf53_ENST00000585683.1_Missense_Mutation_p.T86K	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	86										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)		GCCTCCAGCACGCCCAGTGCT	0.602																																						.											0													84	73	76					17																	42225428		2203	4300	6503	SO:0001583	missense	78995			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.257C>A	17.37:g.42225428C>A	ENSP00000313500:p.Thr86Lys		A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558590	0.03967	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.43294	0.95;0.95	4.68	1.11	0.20524	.	1.059490	0.07253	N	0.866199	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B;B;B	0.23937	0.006;0.094;0.006	B;B;B	0.22601	0.008;0.04;0.008	T	0.23833	-1.0177	10	0.42905	T	0.14	-0.1606	4.7069	0.12855	0.0:0.1771:0.1617:0.6612	.	86;86;86	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	K	86	ENSP00000313500:T86K;ENSP00000245382:T86K	ENSP00000245382:T86K	T	+	2	0	C17orf53	39580954	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.190000	0.09615	-0.009000	0.14296	-0.340000	0.08031	ACG		0.602	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		A	42225428	C	A	42225428	3	1	21	1	0	0	0	0	1	0	0	0	1862	536	19	5	267	5	C17orf53	17	42225428	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	33563747	42225428	38969782	73	1633											
PLEKHM1	9842	mdanderson.org	37	chr17	43531297	43531297	+	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	gggttcctcaggctggtctgGgtactgcacgttcacccact	5	11	12	13	1	3	0	2	0	1	0	4	0	4	0	2	4	2	5	2	4	1	3	rs2684501		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:43531297G>A	ENST00000430334.3	-	7	2054	c.1921C>T	c.(1921-1923)Cca>Tca	p.P641S	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.P552S	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	641					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)					GGCTGGTCTGGGTACTGCACG	0.682																																						.											0													34	40	38					17																	43531297		2202	4299	6501	SO:0001583	missense	9842			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.1921C>T	17.37:g.43531297G>A	ENSP00000389913:p.Pro641Ser		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	7.679	0.688696	0.14973	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.64991	-0.13;-0.13	4.8	3.84	0.44239	.	0.460522	0.24649	N	0.036725	T	0.50735	0.1633	L	0.46157	1.445	0.27650	N	0.947413	P;P;P	0.48503	0.831;0.911;0.741	B;B;B	0.39840	0.209;0.311;0.104	T	0.44081	-0.9351	10	0.21014	T	0.42	.	11.4789	0.50314	0.0876:0.0:0.9124:0.0	rs2684501	552;590;641	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	S	641;590;552	ENSP00000389913:P641S;ENSP00000414352:P552S	ENSP00000414352:P552S	P	-	1	0	PLEKHM1	40887080	0.611000	0.26992	0.608000	0.28969	0.466000	0.32739	1.220000	0.32491	1.262000	0.44165	0.586000	0.80456	CCA		0.682	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		A	43531297	G	A	43531297	3	1	21	1	0	0	0	0	1	0	0	0	12080	1232	43	3	1273	3	PLEKHM1	17	43531297	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	1305869	43531297	37663913	74	1634											
FOXJ1	2302	mdanderson.org	37	chr17	74133974	74133974	+	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	tgctgggcctcggtattcacCgtcagcggcccggcccgggg	3	7	16	15	5	2	0	2	0	0	0	3	0	2	0	4	6	2	2	4	6	1	2	rs894542	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:74133974C>T	ENST00000322957.6	-	3	1080	c.726G>A	c.(724-726)acG>acA	p.T242T	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	242					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGGTATTCACCGTCAGCGGCC	0.716													C|||	385	0.076877	0.0431	0.134	5008	,	,		12954	0.0347		0.1103	False		,,,				2504	0.091					.											0								C		156,3988		3,150,1919	4	6	5		726	1.5	1	17	dbSNP_86	5	700,7392		28,644,3374	no	coding-synonymous	FOXJ1	NM_001454.3		31,794,5293	TT,TC,CC		8.6505,3.7645,6.9958		242/422	74133974	856,11380	2072	4046	6118	SO:0001819	synonymous_variant	2302			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.726G>A	17.37:g.74133974C>T			O00630	Silent	SNP	ENST00000322957.6	37	CCDS32739.1																																																																																				0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		T	74133974	C	T	74133974	2	4	21	1	0	0	0	0	0	0	0	1	6011	639	23	1		1	FOXJ1	17	74133974	Silent	SNP	C	TCGA-KL-8343-01A-11D-2310-10	30602677	74133974	7061236	75	1635											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	6978199	6978199	+	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	aagggcgctgacatactggcCatggtggagtcctgcagaag	10	7	15	9	1	0	2	0	1	0	1	1	3	1	3	2	4	2	2	2	4	3	1			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr18:6978199C>A	ENST00000389658.3	-	43	6279	c.6186G>T	c.(6184-6186)atG>atT	p.M2062I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2062	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACATACTGGCCATGGTGGAGT	0.562																																						.											0													212	189	197					18																	6978199		2203	4300	6503	SO:0001583	missense	284217			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.6186G>T	18.37:g.6978199C>A	ENSP00000374309:p.Met2062Ile			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	9.178	1.022806	0.19433	.	.	ENSG00000101680	ENST00000389658	T	0.44083	0.93	5.65	2.88	0.33553	Laminin II (1);	0.574082	0.19018	N	0.124884	T	0.34308	0.0893	L	0.51422	1.61	0.26194	N	0.979549	B	0.15141	0.012	B	0.15870	0.014	T	0.24297	-1.0164	10	0.44086	T	0.13	.	7.9278	0.29885	0.0:0.6485:0.0:0.3515	.	2062	P25391	LAMA1_HUMAN	I	2062	ENSP00000374309:M2062I	ENSP00000374309:M2062I	M	-	3	0	LAMA1	6968199	0.999000	0.42202	0.380000	0.26093	0.073000	0.16967	1.315000	0.33608	0.860000	0.35481	0.655000	0.94253	ATG		0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6978199	C	A	6978199	3	1	21	1	0	0	0	0	1	0	0	0	8605	594	21	5	3125	5	LAMA1	18	6978199	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		6978199	71099049	76	1636											
SBNO2	22904	ucsc.edu	37	chr19	1132115	1132115	+	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	cagagcctcaaactgcagccAcagctgcagctgggacatgg	11	5	12	13	0	1	1	1	0	0	1	1	2	1	2	2	2	7	4	2	2	1	0			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:1132115A>G	ENST00000361757.3	-	5	517				SBNO2_ENST00000438103.2_Missense_Mutation_p.W28R|SBNO2_ENST00000587024.1_Intron	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTGCAGCCACAGCTGCAGC	0.716																																						.											0													7	8	8					19																	1132115		1763	4004	5767	SO:0001627	intron_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.280-4351T>C	19.37:g.1132115A>G			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518610	0.64634	.	.	ENSG00000064932	ENST00000438103;ENST00000250872	.	.	.	4.09	2.98	0.34508	.	.	.	.	.	T	0.32010	0.0815	L	0.44542	1.39	0.22127	N	0.999344	B;B	0.32573	0.107;0.376	B;B	0.28709	0.043;0.093	T	0.27536	-1.0071	8	0.87932	D	0	-23.9825	7.103	0.25348	0.7995:0.0:0.0:0.2005	.	28;28	B4DL53;Q9Y2G9-3	.;.	R	28;7	.	ENSP00000250872:W7R	W	-	1	0	SBNO2	1083115	1.000000	0.71417	0.957000	0.39632	0.843000	0.47879	3.547000	0.53663	1.510000	0.48803	0.459000	0.35465	TGG		0.716	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		G	1132115	A	G	1132115	1	3	21	0	1	0	0	0	0	0	0	0	13863	159	6	2		2	SBNO2	19	1132115	Intron	SNP	A	TCGA-KL-8343-01A-11D-2310-10		1132115	57996868	77	1637											
SHD	56961	broad.mit.edu	37	chr19	4280193	4280193	+	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	agaacctggacttcgaggacCcctatgaggacgcggagagc	11	5	14	11	3	0	3	0	1	0	2	1	8	0	6	3	4	2	0	3	4	2	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:4280193C>A	ENST00000543264.2	+	1	1596	c.133C>A	c.(133-135)Ccc>Acc	p.P45T	SHD_ENST00000599689.1_Missense_Mutation_p.P45T	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	45										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCGAGGACCCCTATGAGGA	0.687																																						.											0													24	29	27					19																	4280193		2203	4299	6502	SO:0001583	missense	56961			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.133C>A	19.37:g.4280193C>A	ENSP00000446058:p.Pro45Thr		Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478308	0.84747	.	.	ENSG00000105251	ENST00000543264	T	0.64260	-0.09	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.75615	2.305	0.49483	D	0.999799	D	0.89917	1.0	D	0.79108	0.992	T	0.81549	-0.0882	10	0.87932	D	0	-0.5326	15.2492	0.73529	0.0:1.0:0.0:0.0	.	45	Q96IW2	SHD_HUMAN	T	45	ENSP00000446058:P45T	ENSP00000446058:P45T	P	+	1	0	SHD	4231193	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	6.467000	0.73547	2.267000	0.75376	0.484000	0.47621	CCC		0.687	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		A	4280193	C	A	4280193	3	1	21	1	0	0	0	0	1	0	0	0	14275	623	22	5	135	5	SHD	19	4280193	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10	3148078	4280193	54848790	78	1638											
ANKLE1	126549	mdanderson.org	37	chr19	17393530	17393530	+	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	ctgccgccgcggcctggagcTgctgctgagccaaggagcgg	5	5	17	14	4	0	1	0	1	0	0	0	3	0	3	4	4	6	3	4	4	1	0	rs8108174	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:17393530T>A	ENST00000394458.3	+	3	557	c.281T>A	c.(280-282)cTg>cAg	p.L94Q	ANKLE1_ENST00000404085.1_Missense_Mutation_p.L116Q|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L83Q|CTD-2278I10.6_ENST00000596542.1_3'UTR|ANKLE1_ENST00000433424.2_Missense_Mutation_p.L148Q|ANKLE1_ENST00000598347.1_Missense_Mutation_p.L94Q	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	94			L -> Q (in dbSNP:rs8108174). {ECO:0000269|Ref.1}.							large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGCCTGGAGCTGCTGCTGAGC	0.706											OREG0025341	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	2307	0.460663	0.5053	0.3905	5008	,	,		14289	0.3115		0.5726	False		,,,				2504	0.4888					.											0								T	GLN/LEU	2060,1610		662,736,437	2	3	3		281	4.3	1	19	dbSNP_116	3	4143,3109		1303,1537,786	no	missense	ANKLE1	NM_152363.4	113	1965,2273,1223	AA,AT,TT		42.8709,43.8692,43.2064	probably-damaging	94/616	17393530	6203,4719	1835	3626	5461	SO:0001583	missense	126549			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.281T>A	19.37:g.17393530T>A	ENSP00000377971:p.Leu94Gln	717	A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	1011	0.46291208791208793	245	0.49796747967479676	160	0.4419889502762431	164	0.2867132867132867	442	0.58311345646438	T	17.43	3.387803	0.61956	0.561308	0.571291	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.69926	-0.44;-0.44;-0.44	4.27	4.27	0.50696	Ankyrin repeat-containing domain (4);	0.097299	0.42964	D	0.000624	T	0.00012	0.0000	M	0.64080	1.96	0.23515	P	0.99751696	P;D;D	0.89917	0.793;1.0;1.0	B;D;D	0.91635	0.426;0.999;0.999	T	0.51702	-0.8672	9	0.56958	D	0.05	-2.4128	11.4078	0.49908	0.0:0.0:0.0:1.0	rs8108174	94;80;94	E7ETZ9;Q8NAG6-1;Q8NAG6	.;.;ANKL1_HUMAN	Q	94;148;116;83;94	ENSP00000384753:L94Q;ENSP00000394460:L148Q;ENSP00000384008:L116Q	ENSP00000377971:L83Q	L	+	2	0	ANKLE1	17254530	1.000000	0.71417	0.997000	0.53966	0.070000	0.16714	4.664000	0.61540	1.800000	0.52685	0.459000	0.35465	CTG		0.706	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		A	17393530	T	A	17393530	3	1	21	1	0	0	0	0	1	0	0	0	632	1580	55	5	291	5	ANKLE1	19	17393530	Missense_Mutation	SNP	T	TCGA-KL-8343-01A-11D-2310-10	13113337	17393530	41735453	79	1639											
CAPN12	147968	broad.mit.edu	37	chr19	39226063	39226063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagctccaggggcaggtAggggccctgccgcatggcgg	5	4	17	15	2	0	0	0	0	0	0	1	0	1	0	5	7	2	4	5	7	1	1			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:39226063A>G	ENST00000328867.4	-	14	1941	c.1633T>C	c.(1633-1635)Tac>Cac	p.Y545H	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.Y396H	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	545	Domain IV.				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)			AGGGGCAGGTAGGGGCCCTGC	0.677																																						.											0													41	40	40					19																	39226063		2185	4297	6482	SO:0001583	missense	147968			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.1633T>C	19.37:g.39226063A>G	ENSP00000331636:p.Tyr545His			Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298308	0.23650	.	.	ENSG00000182472	ENST00000328867	D	0.86769	-2.17	4.0	2.97	0.34412	.	3.783630	0.00993	N	0.003551	D	0.83110	0.5183	L	0.40543	1.245	0.23984	N	0.99626	B	0.02656	0.0	B	0.01281	0.0	T	0.64253	-0.6451	10	0.41790	T	0.15	.	6.4766	0.22039	0.784:0.0:0.0:0.216	.	545	Q6ZSI9	CAN12_HUMAN	H	545	ENSP00000331636:Y545H	ENSP00000331636:Y545H	Y	-	1	0	CAPN12	43917903	0.160000	0.22878	0.595000	0.28798	0.013000	0.08279	0.553000	0.23391	0.562000	0.29204	0.397000	0.26171	TAC		0.677	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			G	39226063	A	G	39226063	3	3	21	1	0	0	0	0	1	0	0	0	2625	420	15	2	558	2	CAPN12	19	39226063	Missense_Mutation	SNP	A	TCGA-KL-8343-01A-11D-2310-10	21832533	39226063	19902920	80	1640											
ZNF133	7692	bcgsc.ca	37	chr20	18295937	18295951	+	In_Frame_Del	DEL	GGGAGAAGGTGCCAT	GGGAGAAGGTGCCAT	-																															atcaagcagaaggtcctgagGgagaaggtgccatgcctttg																								rs139158783		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	GGGAGAAGGTGCCAT	GGGAGAAGGTGCCAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr20:18295937_18295951delGGGAGAAGGTGCCAT	ENST00000316358.4	+	4	539_553	c.442_456delGGGAGAAGGTGCCAT	c.(442-456)gggagaaggtgccatdel	p.GRRCH148del	ZNF133_ENST00000402618.2_In_Frame_Del_p.GRRCH85del|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_In_Frame_Del_p.GRRCH148del|ZNF133_ENST00000538547.1_In_Frame_Del_p.GRRCH53del|ZNF133_ENST00000535822.1_In_Frame_Del_p.GRRCH53del|ZNF133_ENST00000377671.3_In_Frame_Del_p.GRRCH147del|ZNF133_ENST00000396026.3_In_Frame_Del_p.GRRCH151del|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	148					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGGTCCTGAGGGAGAAGGTGCCATGCCTTTGTTTG	0.6																																						.											0																																										SO:0001651	inframe_deletion	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.442_456delGGGAGAAGGTGCCAT	20.37:g.18295937_18295951delGGGAGAAGGTGCCAT	ENSP00000346090:p.Gly148_His152del		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	In_Frame_Del	DEL	ENST00000316358.4	37																																																																																					0.6	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		-	18295951	GGGAGAAGGTGCCAT	-	18295937	7	5	21	1	0	1	0	1	0	0	0	0	17720	1233	43	0	449	0	ZNF133	20	18295937	In_Frame_Del	DEL	GGGAGAAGGTGCCAT	TCGA-KL-8343-01A-11D-2310-10		18295937	44729583	81	1641											
SEZ6L	23544	broad.mit.edu;mdanderson.org	37	chr22	26736527	26736527	+	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	ctcctccacgccagacttaaCcatccagttccattcggacc	9	9	5	18	2	0	1	0	0	0	1	5	2	4	2	7	1	1	1	7	1	1	3			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr22:26736527C>A	ENST00000248933.6	+	10	2236	c.2141C>A	c.(2140-2142)aCc>aAc	p.T714N	SEZ6L_ENST00000343706.4_Missense_Mutation_p.T714N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T714N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T487N|SEZ6L_ENST00000529632.2_Missense_Mutation_p.T714N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T487N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T714N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	714	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)				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						CCAGACTTAACCATCCAGTTC	0.507																																						.											0													97	85	89					22																	26736527		2203	4300	6503	SO:0001583	missense	23544			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.2141C>A	22.37:g.26736527C>A	ENSP00000248933:p.Thr714Asn		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518095	0.64634	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.14	5.14	0.70334	CUB (5);	0.112900	0.39083	N	0.001478	T	0.47857	0.1468	M	0.91717	3.235	0.80722	D	1	B;B;B;B;B;B;B	0.29188	0.033;0.236;0.033;0.198;0.178;0.236;0.236	B;B;B;B;B;B;B	0.31686	0.03;0.133;0.033;0.081;0.134;0.133;0.133	T	0.56366	-0.7991	10	0.56958	D	0.05	.	17.7636	0.88470	0.0:1.0:0.0:0.0	.	714;714;487;714;714;714;714	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	N	714;714;714;714;714;487;487	ENSP00000384772:T714N;ENSP00000437037:T714N;ENSP00000354185:T714N;ENSP00000248933:T714N;ENSP00000342661:T714N;ENSP00000384838:T487N;ENSP00000384733:T487N	ENSP00000248933:T714N	T	+	2	0	SEZ6L	25066527	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	7.149000	0.77396	2.668000	0.90789	0.462000	0.41574	ACC		0.507	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26736527	C	A	26736527	3	1	21	1	0	0	0	0	1	0	0	0	14143	507	18	5	2179	5	SEZ6L	22	26736527	Missense_Mutation	SNP	C	TCGA-KL-8343-01A-11D-2310-10		26736527	24568039	82	1642											
MAGEB2	4113	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	30237265	30237265	+	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	aggtagacctcactgatgagGaatccctgctcagttcctgg	9	10	11	11	0	2	3	2	2	0	1	4	4	4	4	3	3	1	3	3	3	2	2			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:30237265G>A	ENST00000378988.4	+	2	669	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	190	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CACTGATGAGGAATCCCTGCT	0.502																																						.											0													61	47	52					X																	30237265		2202	4300	6502	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.568G>A	X.37:g.30237265G>A	ENSP00000368273:p.Glu190Lys		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391388	0.25118	.	.	ENSG00000099399	ENST00000378988	T	0.05025	3.51	3.13	2.26	0.28386	.	1.425730	0.05041	N	0.476377	T	0.12135	0.0295	M	0.82193	2.58	0.09310	N	1	B	0.33637	0.42	B	0.32022	0.139	T	0.34601	-0.9822	10	0.66056	D	0.02	.	5.6343	0.17528	0.156:0.0:0.844:0.0	.	190	O15479	MAGB2_HUMAN	K	190	ENSP00000368273:E190K	ENSP00000368273:E190K	E	+	1	0	MAGEB2	30147186	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	1.681000	0.37618	0.723000	0.32274	0.436000	0.28706	GAA		0.502	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		A	30237265	G	A	30237265	3	1	21	1	0	0	0	0	1	0	0	0	9176	1175	41	3	570	3	MAGEB2	23	30237265	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10		30237265	125033295	83	1643											
DMD	1756	broad.mit.edu;hgsc.bcm.edu	37	chrX	31198540	31198550	+	Frame_Shift_Del	DEL	GACCAGAAAAA	GACCAGAAAAA	-																															tttatggccttttgcaactcGaccagaaaaaaagcagcttt																								rs398123827		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	GACCAGAAAAA	GACCAGAAAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:31198540_31198550delGACCAGAAAAA	ENST00000357033.4	-	69	10229_10239	c.10023_10033delTTTTTCTGGTC	c.(10021-10035)tttttttctggtcgafs	p.FFSGR3341fs	DMD_ENST00000343523.2_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.FFSGR273fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.FFSGR881fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.FFSGR273fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.FFSGR273fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.FFSGR273fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.FFSGR3337fs	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	3341	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)				TTTGCAACTCGACCAGAAAAAAAGCAGCTTT	0.412																																						.											0			GRCh37	CI040202|CM001666	DMD	I|M																																				SO:0001589	frameshift_variant	1756			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.10023_10033delTTTTTCTGGTC	X.37:g.31198540_31198550delGACCAGAAAAA	ENSP00000354923:p.Phe3341fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	CCDS14233.1																																																																																				0.412	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		-	31198550	GACCAGAAAAA	-	31198540	7	5	21	1	0	1	0	1	0	0	0	0	4580	1066	37	0	1158	0	DMD	23	31198540	Frame_Shift_Del	DEL	GACCAGAAAAA	TCGA-KL-8343-01A-11D-2310-10	961275	31198540	124072020	84	1644	46	2									
DMD	1756	bcgsc.ca	37	chrX	31198541	31198551	+	Frame_Shift_Del	DEL	GACCAGAAAAA	GACCAGAAAAA	-																															ttatggccttttgcaactcgAccagaaaaaaagcagctttg																										TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	GACCAGAAAAA	GACCAGAAAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:31198541_31198551delGACCAGAAAAA	ENST00000357033.4	-	69	10228_10238	c.10022_10032delTTTTTCTGGTC	c.(10021-10032)ttttttctggtcfs	p.FFLV3341fs	DMD_ENST00000343523.2_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.FFLV273fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.FFLV881fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.FFLV273fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.FFLV273fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.FFLV273fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.FFLV3337fs	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	3341	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)				TTGCAACTCGACCAGAAAAAAAGCAGCTTTG	0.412																																						.											0			GRCh37	CI040202	DMD	I																																				SO:0001589	frameshift_variant	1756			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.10022_10032delTTTTTCTGGTC	X.37:g.31198541_31198551delGACCAGAAAAA	ENSP00000354923:p.Phe3341fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	CCDS14233.1																																																																																				0.412	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		-	31198551	GACCAGAAAAA	-	31198541	7	5	21	1	0	1	0	1	0	0	0	0	4580	262	10	0	1159	0	DMD	23	31198541	Frame_Shift_Del	DEL	GACCAGAAAAA	TCGA-KL-8343-01A-11D-2310-10	1	31198541	124072019	85	1645	46	2									
DMD	1756	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	32382805	32382805	+	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	ggtccacattctggtcaaaaGtttccatgtgtttctggtat	8	16	9	8	0	3	0	1	0	2	0	5	0	5	0	2	3	0	3	2	3	3	4	rs146420425		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:32382805G>C	ENST00000357033.4	-	36	5254	c.5048C>G	c.(5047-5049)aCt>aGt	p.T1683S	DMD_ENST00000378677.2_Missense_Mutation_p.T1679S	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	1683	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)				CTGGTCAAAAGTTTCCATGTG	0.363																																						.											0								G	SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR,SER/THR	3,3830		0,3,1628,571	202	155	171		5024,5048,4679,5036,4679,1025,1016	2.5	1	X	dbSNP_134	171	0,6728		0,0,2428,1872	no	missense,missense,missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3	58,58,58,58,58,58,58	0,3,4056,2443	CC,CG,GG,G		0.0,0.0783,0.0284	benign,benign,benign,benign,benign,benign,benign	1675/3678,1683/3686,1560/3563,1679/3682,1560/3563,342/2345,339/2342	32382805	3,10558	2202	4300	6502	SO:0001583	missense	1756			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.5048C>G	X.37:g.32382805G>C	ENSP00000354923:p.Thr1683Ser		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328845	0.24167	7.83E-4	0.0	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000420596;ENST00000448370	T;T	0.49432	0.78;0.78	5.38	2.49	0.30216	.	0.457777	0.15530	N	0.257580	T	0.30386	0.0763	N	0.19112	0.55	0.53005	D	0.999964	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.07028	-1.0794	10	0.09338	T	0.73	.	13.7945	0.63162	0.0:0.0:0.6002:0.3998	.	1675;1683;1679;342;339	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	S	1675;342;339;1679;1683;1683;1560;99;39	ENSP00000367948:T1679S;ENSP00000354923:T1683S	ENSP00000354923:T1683S	T	-	2	0	DMD	32292726	0.859000	0.29813	0.991000	0.47740	0.888000	0.51559	0.551000	0.23361	0.135000	0.18707	0.538000	0.68166	ACT		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32382805	G	C	32382805	3	2	21	1	0	0	0	0	1	0	0	0	4580	1029	36	5	6333	5	DMD	23	32382805	Missense_Mutation	SNP	G	TCGA-KL-8343-01A-11D-2310-10	1184264	32382805	122887755	86	1646											
PRAMEF4	400735	ucsc.edu;mdanderson.org	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-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	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																																						.											0													50	69	62					1																	12939904		1404	2644	4048	SO:0001583	missense	400735				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		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	22	1	0	0	0	0	1	0	0	0	12437	43	2	5	542	5	PRAMEF4	1	12939904	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10		12939904	236310717	1	1647											
OPRD1	4985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	29189494	29189494	+	Missense_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	tgtgggcgccttcgtggtgtGttgggcgcccatccacatct	3	12	14	12	3	1	0	0	0	1	0	3	0	2	0	3	3	0	1	3	3	0	2			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:29189494G>A	ENST00000234961.2	+	3	1060	c.818G>A	c.(817-819)tGt>tAt	p.C273Y		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	273					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)	TTCGTGGTGTGTTGGGCGCCC	0.677																																						.											0													33	29	30					1																	29189494		2201	4298	6499	SO:0001583	missense	4985			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.818G>A	1.37:g.29189494G>A	ENSP00000234961:p.Cys273Tyr		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814486	0.70912	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.54279	0.58	4.06	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.170740	0.53938	D	0.000050	T	0.81264	0.4786	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84377	0.0547	10	0.87932	D	0	.	9.3973	0.38410	0.1059:0.0:0.8941:0.0	.	273	P41143	OPRD_HUMAN	Y	273;225	ENSP00000234961:C273Y	ENSP00000234961:C273Y	C	+	2	0	OPRD1	29062081	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.646000	0.98474	0.926000	0.37118	0.462000	0.41574	TGT		0.677	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		A	29189494	G	A	29189494	3	1	22	1	0	0	0	0	1	0	0	0	10884	1377	48	4	828	4	OPRD1	1	29189494	Missense_Mutation	SNP	G	TCGA-KL-8344-01A-11D-2310-10	16249590	29189494	220061127	2	1648											
DMAP1	55929	hgsc.bcm.edu	37	chr1	44684410	44684410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcttgagcgtctctacAaccggaccccagagcaggta	12	6	10	13	2	1	2	0	1	1	1	2	3	1	3	3	2	6	3	3	2	4	3			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:44684410A>G	ENST00000372289.2	+	5	966	c.703A>G	c.(703-705)Aac>Gac	p.N235D	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.N235D|DMAP1_ENST00000361745.6_Missense_Mutation_p.N235D	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	235					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)					GCGTCTCTACAACCGGACCCC	0.577											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													99	94	96					1																	44684410		2203	4300	6503	SO:0001583	missense	55929			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.703A>G	1.37:g.44684410A>G	ENSP00000361363:p.Asn235Asp	925	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570838	0.45798	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000437511;ENST00000315913;ENST00000372289	.	.	.	5.79	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.33293	1	0.58432	D	0.999999	B;B	0.20988	0.05;0.013	B;B	0.17722	0.019;0.019	T	0.35992	-0.9766	9	0.33141	T	0.24	-4.3399	11.2457	0.48996	0.929:0.0:0.071:0.0	.	225;235	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	D	235;235;261;235;261;235;235	.	ENSP00000312697:N235D	N	+	1	0	DMAP1	44456997	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.071000	0.76770	2.208000	0.71279	0.533000	0.62120	AAC		0.577	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		G	44684410	A	G	44684410	3	3	22	1	0	0	0	0	1	0	0	0	4576	130	5	4	721	4	DMAP1	1	44684410	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	15494916	44684410	204566211	3	1649											
TTC22	55001	bcgsc.ca	37	chr1	55266518	55266518	+	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	cagccgcccgtacacgtgtgCcagattggcccaggcattga	8	7	12	14	3	0	2	0	1	0	1	0	2	0	2	4	2	3	2	4	2	1	3			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:55266518C>T	ENST00000371276.4	-	1	422	c.319G>A	c.(319-321)Gca>Aca	p.A107T	TTC22_ENST00000371274.4_Missense_Mutation_p.A107T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	107										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TACACGTGTGCCAGATTGGCC	0.697																																						.											0													11	13	12					1																	55266518		2190	4288	6478	SO:0001583	missense	55001			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.319G>A	1.37:g.55266518C>T	ENSP00000360323:p.Ala107Thr		Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540101	0.85917	.	.	ENSG00000006555	ENST00000371276;ENST00000371274	T;T	0.41065	1.01;1.01	4.31	3.39	0.38822	Tetratricopeptide-like helical (1);	0.132843	0.49916	D	0.000126	T	0.38639	0.1048	L	0.59436	1.845	0.45295	D	0.998298	B;B	0.12630	0.006;0.002	B;B	0.12156	0.005;0.007	T	0.31641	-0.9936	10	0.49607	T	0.09	-34.8523	11.2527	0.49034	0.0:0.9079:0.0:0.0921	.	107;107	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	T	107	ENSP00000360323:A107T;ENSP00000360321:A107T	ENSP00000360321:A107T	A	-	1	0	TTC22	55039106	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.720000	0.61944	1.145000	0.42336	0.462000	0.41574	GCA		0.697	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		T	55266518	C	T	55266518	3	4	22	1	0	0	0	0	1	0	0	0	16686	739	26	3	1521	3	TTC22	1	55266518	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	10582108	55266518	193984103	4	1650											
GBP2	2634	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	89585913	89585913	+	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	ttcccatgctattgtacacgAaggtgctgctcaggaggatg	9	11	12	9	1	1	0	1	0	0	0	2	3	2	2	1	3	4	4	1	3	3	4			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:89585913A>C	ENST00000370466.3	-	4	645	c.377T>G	c.(376-378)tTc>tGc	p.F126C	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	126	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				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)		ATTGTACACGAAGGTGCTGCT	0.463																																						.											0													225	202	210					1																	89585913		2203	4300	6503	SO:0001583	missense	2634			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.377T>G	1.37:g.89585913A>C	ENSP00000359497:p.Phe126Cys		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	CCDS719.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.467875	0.63625	.	.	ENSG00000162645	ENST00000370466	T	0.61980	0.06	3.61	3.61	0.41365	Guanylate-binding protein, N-terminal (1);	0.219316	0.29522	U	0.011901	T	0.77864	0.4194	M	0.93854	3.465	0.33741	D	0.6194	D	0.89917	1.0	D	0.85130	0.997	T	0.82067	-0.0641	10	0.72032	D	0.01	-10.754	10.5469	0.45066	1.0:0.0:0.0:0.0	.	126	P32456	GBP2_HUMAN	C	126	ENSP00000359497:F126C	ENSP00000359497:F126C	F	-	2	0	GBP2	89358501	1.000000	0.71417	0.846000	0.33378	0.978000	0.69477	6.527000	0.73803	1.627000	0.50400	0.524000	0.50904	TTC		0.463	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		C	89585913	A	C	89585913	3	2	22	1	0	0	0	0	1	0	0	0	6274	246	9	5	1430	5	GBP2	1	89585913	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	34319395	89585913	159664708	5	1651											
CHD1L	9557	hgsc.bcm.edu	37	chr1	146767123	146767123	+	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	ccttatcagatattattttcCtagaagcaagtctgctgtcc	10	15	6	10	0	2	2	1	0	1	2	4	2	4	2	3	0	2	2	3	0	6	6			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:146767123C>T	ENST00000369258.4	+	23	2647	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L	CHD1L_ENST00000431239.1_Missense_Mutation_p.P782L|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.P595L|CHD1L_ENST00000369259.3_Missense_Mutation_p.P672L	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	876	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTATTTTCCTAGAAGCAAG	0.398																																						.											0													129	117	121					1																	146767123		2203	4300	6503	SO:0001583	missense	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2627C>T	1.37:g.146767123C>T	ENSP00000358262:p.Pro876Leu		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837832	0.71373	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;T	0.89123	-2.47;-1.32;-2.35;-1.46	5.27	5.27	0.74061	Appr-1-p processing (1);	0.359172	0.27636	N	0.018488	D	0.90167	0.6927	L	0.58101	1.795	0.58432	D	0.999994	D;D;P	0.60575	0.988;0.96;0.933	P;P;P	0.58721	0.844;0.711;0.518	D	0.90591	0.4537	10	0.62326	D	0.03	.	14.2767	0.66184	0.0:1.0:0.0:0.0	.	782;672;876	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	L	782;672;876;595	ENSP00000389031:P782L;ENSP00000358263:P672L;ENSP00000358262:P876L;ENSP00000355100:P595L	ENSP00000355100:P595L	P	+	2	0	CHD1L	145233747	0.999000	0.42202	0.995000	0.50966	0.912000	0.54170	3.836000	0.55813	2.735000	0.93741	0.655000	0.94253	CCT		0.398	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		T	146767123	C	T	146767123	3	4	22	1	0	0	0	0	1	0	0	0	3324	681	24	4	2717	4	CHD1L	1	146767123	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	57181210	146767123	102483498	6	1652											
HRNR	388697	broad.mit.edu	37	chr1	152191466	152191466	+	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	atccagagccatgtcggccgCggcccgaagcgtgatgggag	8	5	16	12	5	0	2	0	1	0	1	2	4	1	3	4	3	2	0	4	3	1	0	rs376040395	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:152191466C>T	ENST00000368801.2	-	3	2714	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	880					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)	p.R880H(1)		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)			ATGTCGGCCGCGGCCCGAAGC	0.627													C|||	2	0.000399361	0	0	5008	,	,		20954	0		0.001	False		,,,				2504	0.001					.											1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG	0,4406		0,0,2203	87	95	93		2639	-4.1	0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	880/2851	152191466	1,13005	2203	4300	6503	SO:0001583	missense	388697			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.2639G>A	1.37:g.152191466C>T	ENSP00000357791:p.Arg880His		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078540	0.07184	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01871	4.59	2.07	-4.14	0.03892	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	P	0.46578	0.88	B	0.19946	0.027	T	0.49214	-0.8963	9	0.15499	T	0.54	.	4.0907	0.09968	0.0:0.2699:0.3225:0.4077	.	880	Q86YZ3	HORN_HUMAN	H	880	ENSP00000357791:R880H	ENSP00000357791:R880H	R	-	2	0	HRNR	150458090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.906000	0.00171	-2.279000	0.00676	-0.362000	0.07510	CGC		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152191466	C	T	152191466	3	4	22	1	0	0	0	0	1	0	0	0	7359	768	27	1	5917	1	HRNR	1	152191466	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	5424343	152191466	97059155	7	1653											
PPP1R12B	4660	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	202391786	202391786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccagtgtaggtattgtcaAtagtgaaggtgaagttccct	11	12	12	6	0	1	2	1	2	0	0	2	2	2	2	2	2	1	3	2	2	6	5	rs141572166	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:202391786A>G	ENST00000608999.1	+	3	614	c.461A>G	c.(460-462)aAt>aGt	p.N154S	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.N154S|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.N154S|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.N154S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	154					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTATTGTCAATAGTGAAGGT	0.418													A|||	2	0.000399361	8e-04	0	5008	,	,		19575	0		0.001	False		,,,				2504	0					.											0								A	SER/ASN,SER/ASN,SER/ASN	2,4404	4.2+/-10.8	0,2,2201	108	103	104		461,461,461	3.9	0.7	1	dbSNP_134	104	0,8600		0,0,4300	yes	missense,missense,missense	PPP1R12B	NM_001167857.1,NM_001167858.1,NM_002481.3	46,46,46	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	154/516,154/387,154/983	202391786	2,13004	2203	4300	6503	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.461A>G	1.37:g.202391786A>G	ENSP00000476755:p.Asn154Ser		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	20.4	3.985689	0.74589	4.54E-4	0.0	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.09	3.94	0.45596	Ankyrin repeat-containing domain (3);	0.085998	0.49916	D	0.000136	T	0.56558	0.1993	N	0.20574	0.59	0.80722	D	1	D;D;D;D	0.89917	0.999;0.977;1.0;0.999	D;D;D;D	0.79108	0.956;0.958;0.971;0.992	T	0.59984	-0.7351	10	0.66056	D	0.02	.	12.3285	0.55024	0.8585:0.1415:0.0:0.0	.	154;154;154;154	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	S	154	ENSP00000384496:N154S;ENSP00000337897:N154S;ENSP00000417159:N154S;ENSP00000349206:N154S	ENSP00000337897:N154S	N	+	2	0	PPP1R12B	200658409	1.000000	0.71417	0.730000	0.30809	0.964000	0.63967	8.694000	0.91293	0.851000	0.35264	0.482000	0.46254	AAT		0.418	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		G	202391786	A	G	202391786	3	3	22	1	0	0	0	0	1	0	0	0	12355	101	4	4	471	4	PPP1R12B	1	202391786	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	50200320	202391786	46858835	8	1654											
OBSCN	84033	mdanderson.org	37	chr1	228504669	228504669	+	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	cgcgacgccgtggcctctgcGcggctcaccgtgctgggtgg	2	7	17	15	7	2	0	1	0	1	0	2	1	2	0	3	4	2	2	3	4	0	0	rs61825302	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:228504669G>A	ENST00000422127.1	+	51	13589	c.13545G>A	c.(13543-13545)gcG>gcA	p.A4515A	OBSCN_ENST00000366709.4_Silent_p.A1634A|OBSCN_ENST00000570156.2_Silent_p.A5472A|OBSCN_ENST00000284548.11_Silent_p.A4515A|OBSCN_ENST00000366707.4_Silent_p.A2149A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4515	Ig-like 46.				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)				TGGCCTCTGCGCGGCTCACCG	0.731													g|||	729	0.145567	0.1218	0.2349	5008	,	,		13931	0.1518		0.159	False		,,,				2504	0.0941					.											0									,	507,3253		36,435,1409	5	6	6		13545,13545	-6.2	0	1	dbSNP_129	6	1105,6501		71,963,2769	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	107,1398,4178	AA,AG,GG		14.528,13.484,14.1827	,	4515/7969,4515/6621	228504669	1612,9754	1880	3803	5683	SO:0001819	synonymous_variant	84033			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.13545G>A	1.37:g.228504669G>A			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																																																																																				0.731	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504669	G	A	228504669	2	1	22	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228504669	Silent	SNP	G	TCGA-KL-8344-01A-11D-2310-10	26112883	228504669	20745952	9	1655											
NCKAP1	10787	broad.mit.edu	37	chr2	183791547	183791547	+	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	attaaaatgagacttaccatAtctagcagtaaataaacaga	20	10	5	6	0	1	2	0	1	1	2	1	3	1	2	1	0	3	2	1	0	9	6			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:183791547A>G	ENST00000361354.4	-	30	3639	c.3267T>C	c.(3265-3267)gaT>gaC	p.D1089D	NCKAP1_ENST00000360982.2_Silent_p.D1095D|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1089					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GACTTACCATATCTAGCAGTA	0.318																																						.											0													83	82	82					2																	183791547		2202	4297	6499	SO:0001819	synonymous_variant	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3267T>C	2.37:g.183791547A>G			O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	CCDS2287.1																																																																																				0.318	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		G	183791547	A	G	183791547	2	3	22	1	0	0	0	0	0	0	0	1	10221	446	16	4		4	NCKAP1	2	183791547	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10		183791547	59407826	10	1656											
RAPH1	65059	mdanderson.org	37	chr2	204305990	204305990	+	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	gggggaggagggggtggtggAgggggtggtggaggaggagg	6	4	31	0	0	0	0	0	0	0	0	0	6	0	6	0	14	0	0	0	14	0	0			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:204305990A>G	ENST00000319170.5	-	14	2222	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P	RAPH1_ENST00000374493.3_Silent_p.P693P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	641					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						ggggtggtggagggggtggtg	0.602																																						.											0													5	6	6					2																	204305990		1778	3383	5161	SO:0001819	synonymous_variant	65059			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.1923T>C	2.37:g.204305990A>G			Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																				0.602	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		G	204305990	A	G	204305990	2	3	22	1	0	0	0	0	0	0	0	1	13050	291	11	2		2	RAPH1	2	204305990	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10	20514443	204305990	38893383	11	1657											
PAX3	5077	broad.mit.edu	37	chr2	223066834	223066834	+	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	ggtggtaggttccagaccccCggtgagaggggagagcgcgt	7	6	19	9	3	0	3	0	1	0	3	1	5	1	3	3	6	1	2	3	6	1	2	rs528350431		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:223066834C>T	ENST00000350526.4	-	8	1385	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PAX3_ENST00000392070.2_Missense_Mutation_p.G417R|PAX3_ENST00000392069.2_Missense_Mutation_p.G417R|PAX3_ENST00000409551.3_Missense_Mutation_p.G416R|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	417					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|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 somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGACCCCCGGTGAGAGGG	0.557			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						C|||	1	0.000199681	8e-04	0	5008	,	,		17596	0		0	False		,,,				2504	0					.		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													78	74	75					2																	223066834		2203	4300	6503	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1249G>A	2.37:g.223066834C>T	ENSP00000343052:p.Gly417Arg		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859852	0.91433	.	.	ENSG00000135903	ENST00000392069;ENST00000350526;ENST00000392070;ENST00000409551;ENST00000464706	D;D;D;D	0.94758	-3.39;-3.43;-3.5;-3.51	5.81	5.81	0.92471	.	0.051938	0.85682	D	0.000000	D	0.96423	0.8833	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;P;D	0.69142	0.962;0.851;0.929	D	0.95648	0.8704	10	0.45353	T	0.12	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	417;416;417	P23760;Q494Z4;G5E9C1	PAX3_HUMAN;.;.	R	417;417;417;416;134	ENSP00000375921:G417R;ENSP00000343052:G417R;ENSP00000375922:G417R;ENSP00000386750:G416R	ENSP00000343052:G417R	G	-	1	0	PAX3	222775078	1.000000	0.71417	0.967000	0.41034	0.931000	0.56810	4.500000	0.60387	2.736000	0.93811	0.655000	0.94253	GGG		0.557	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223066834	C	T	223066834	3	4	22	1	0	0	0	0	1	0	0	0	11480	652	23	1	308	1	PAX3	2	223066834	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	18760844	223066834	20132539	12	1658											
ATRIP	84126	bcgsc.ca	37	chr3	48498818	48498818	+	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	cctctggtgggcagagagggTaagtccattagtcatctatt	9	12	12	8	0	3	1	1	0	2	1	4	2	4	1	2	3	0	2	2	3	3	4			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:48498818T>C	ENST00000320211.3	+	5	942		c.e5+2		ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000412052.1_Splice_Site	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein						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)		GCAGAGAGGGTAAGTCCatta	0.408								Other conserved DNA damage response genes																														.											0													60	56	57					3																	48498818		2203	4300	6503	SO:0001630	splice_region_variant	84126			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.829+2T>C	3.37:g.48498818T>C			A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Splice_Site	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.826973	0.50739	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9763	0.53094	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRIP	48473822	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	3.830000	0.55768	2.324000	0.78689	0.533000	0.62120	.		0.408	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384	Intron	C	48498818	T	C	48498818	5	2	22	1	0	0	0	0	0	0	1	0	1205	1652	57	2	849	2	ATRIP	3	48498818	Splice_Site	SNP	T	TCGA-KL-8344-01A-11D-2310-10		48498818	149523612	13	1659											
ACTR8	93973	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	53914090	53914090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctcgaccaatccttaaaGttgttgaacctggatgtatg	10	13	10	8	1	0	1	0	1	0	0	2	3	1	2	3	2	1	4	3	2	5	4			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:53914090G>T	ENST00000335754.3	-	2	270	c.170C>A	c.(169-171)aCt>aAt	p.T57N	ACTR8_ENST00000482349.1_5'UTR|AC012467.1_ENST00000410956.1_RNA|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	57					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)		AATCCTTAAAGTTGTTGAACC	0.428																																						.											0													179	168	172					3																	53914090		2203	4300	6503	SO:0001583	missense	93973				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.170C>A	3.37:g.53914090G>T	ENSP00000336842:p.Thr57Asn		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541648	0.45280	.	.	ENSG00000113812	ENST00000335754	D	0.94793	-3.52	6.02	6.02	0.97574	.	0.052061	0.85682	D	0.000000	D	0.87297	0.6142	N	0.05078	-0.115	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.82317	-0.0517	10	0.15066	T	0.55	-2.1464	18.3137	0.90210	0.0:0.0:1.0:0.0	.	57	Q9H981	ARP8_HUMAN	N	57	ENSP00000336842:T57N	ENSP00000336842:T57N	T	-	2	0	ACTR8	53889130	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	4.786000	0.62425	2.865000	0.98341	0.655000	0.94253	ACT		0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		T	53914090	G	T	53914090	3	4	22	1	0	0	0	0	1	0	0	0	217	1029	36	5	1752	5	ACTR8	3	53914090	Missense_Mutation	SNP	G	TCGA-KL-8344-01A-11D-2310-10	5415272	53914090	144108340	14	1660											
FAM55C	91775	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	101540561	101540561	+	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	ccaaagaccgtggtggtcatCcggacggccaacgcccaaga	11	4	12	14	4	1	2	1	0	0	2	2	3	2	3	5	4	1	0	5	4	3	0			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:101540561C>G	ENST00000491511.2	+	8	2399	c.1443C>G	c.(1441-1443)atC>atG	p.I481M	NXPE3_ENST00000477909.1_Missense_Mutation_p.I481M|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000422132.1_Missense_Mutation_p.I481M|NXPE3_ENST00000273347.5_Missense_Mutation_p.I481M	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	481						extracellular region (GO:0005576)											TGGTGGTCATCCGGACGGCCA	0.577																																						.											0													97	99	99					3																	101540561		2203	4300	6503	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1443C>G	3.37:g.101540561C>G	ENSP00000417485:p.Ile481Met		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887089	0.72410	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	6.03	1.61	0.23674	.	0.132273	0.64402	D	0.000002	T	0.39860	0.1094	M	0.87097	2.86	0.49798	D	0.999823	D	0.53151	0.958	P	0.57548	0.823	T	0.25187	-1.0139	10	0.87932	D	0	-21.7103	6.309	0.21154	0.2333:0.5725:0.0:0.1942	.	481	Q969Y0	FA55C_HUMAN	M	481	ENSP00000273347:I481M;ENSP00000417485:I481M;ENSP00000418369:I481M;ENSP00000396421:I481M	ENSP00000273347:I481M	I	+	3	3	FAM55C	103023251	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.415000	0.21181	0.397000	0.25310	0.655000	0.94253	ATC		0.577	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		G	101540561	C	G	101540561	3	3	22	1	0	0	0	0	1	0	0	0	5586	845	30	5	1461	5	FAM55C	3	101540561	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	47626471	101540561	96481869	15	1661											
EIF4G1	1981	mdanderson.org	37	chr3	184039769	184039770	+	Missense_Mutation	DNP	GA	GA	AG																															agaagaagaagaggaagaagGagaagcaggagaagcaggag																								rs111659103|rs398102387		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:184039769_184039770GA>AG	ENST00000346169.2	+	10	1668_1669	c.1397_1398GA>AG	c.(1396-1398)gGA>gAG	p.G466E	EIF4G1_ENST00000342981.4_Missense_Mutation_p.G466E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G473E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G473E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G473E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G379E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G270E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G426E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G302E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G466E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G270E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G302E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G426E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G379E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	466	Poly-Glu.		Missing. {ECO:0000269|PubMed:21907011}.		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)			gaggaagaaggagaagcaggag	0.55																																						.											0																																										SO:0001583	missense	1981			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	Exception_encountered	3.37:g.184039769_184039770delinsAG	ENSP00000316879:p.Gly466Glu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	DNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.55	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		AG	184039770	GA	AG	184039769	3	1	22	1	0	0	0	0	1	0	0	0	5036	1174	41	3	1427	3	EIF4G1	3	184039769	Missense_Mutation	DNP	GA	TCGA-KL-8344-01A-11D-2310-10	82499208	184039769	13982661	16	1662	47	2									
EIF4G1	1981	mdanderson.org	37	chr3	184039775	184039775	+	Missense_Mutation	SNP	C	C	A																															agaagaggaagaaggagaagCaggagaagcaggagaagctg																								rs200221361|rs111659103|rs398102387		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:184039775C>A	ENST00000346169.2	+	10	1674	c.1403C>A	c.(1402-1404)gCa>gAa	p.A468E	EIF4G1_ENST00000342981.4_Missense_Mutation_p.A468E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A475E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A475E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A475E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A381E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A272E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A428E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A304E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A468E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A272E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A304E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A428E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A381E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	468			Missing. {ECO:0000269|PubMed:21907011}.	A -> V (in Ref. 1; BAA02185). {ECO:0000305}.	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)			gaaggagaagcaggagaagca	0.537																																						.											0													61	62	61					3																	184039775		2203	4300	6503	SO:0001583	missense	1981			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.1403C>A	3.37:g.184039775C>A	ENSP00000316879:p.Ala468Glu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.934063	0.00053	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;1.68;0.05	0.321	0.321	0.15883	.	0.503112	0.18663	N	0.134661	T	0.24967	0.0606	N	0.02011	-0.69	0.09310	N	0.999996	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	0.33394	-0.9870	9	0.02654	T	1	.	.	.	.	.	475;468;468;475	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	E	468;428;381;468;475;475;409;304;475;381;468;468;475;428;304;304;272;272;272	ENSP00000316879:A468E;ENSP00000391935:A428E;ENSP00000376320:A381E;ENSP00000391412:A468E;ENSP00000413159:A475E;ENSP00000371767:A475E;ENSP00000403269:A409E;ENSP00000317600:A304E;ENSP00000338020:A475E;ENSP00000407682:A381E;ENSP00000343450:A468E;ENSP00000323737:A468E;ENSP00000416255:A475E;ENSP00000395974:A428E;ENSP00000398145:A304E;ENSP00000399858:A304E;ENSP00000411826:A272E;ENSP00000399969:A272E;ENSP00000404754:A272E	ENSP00000323737:A468E	A	+	2	0	EIF4G1	185522469	0.645000	0.27286	0.810000	0.32431	0.154000	0.21943	0.330000	0.19715	0.428000	0.26173	0.121000	0.15741	GCA		0.537	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		A	184039775	C	A	184039775	3	1	22	1	0	0	0	0	1	0	0	0	5036	710	25	5	1433	5	EIF4G1	3	184039775	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	6	184039775	13982655	17	1663	47	2									
C4orf32	132720	hgsc.bcm.edu	37	chr4	113066760	113066760	+	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	tgctcagccggggagctgctGcggggcggcgacggcgggga	4	4	22	11	6	1	0	1	0	0	0	1	3	1	2	1	8	5	3	1	8	0	0			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr4:113066760G>A	ENST00000309733.5	+	1	208	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	8						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		GGGAGCTGCTGCGGggcggcg	0.801																																						.											0													4	7	6					4																	113066760		1921	3901	5822	SO:0001819	synonymous_variant	132720			AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.24G>A	4.37:g.113066760G>A			Q49A91|Q4W5C7|Q8TBF9	Silent	SNP	ENST00000309733.5	37	CCDS3695.1																																																																																				0.801	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		A	113066760	G	A	113066760	2	1	22	1	0	0	0	0	0	0	0	1	2262	1306	46	4		4	C4orf32	4	113066760	Silent	SNP	G	TCGA-KL-8344-01A-11D-2310-10		113066760	78087516	18	1664											
KIAA1109	84162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	123160846	123160846	+	Missense_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	gggacaagcagcctgtaacaGttggagtccagtttagtagt	11	10	13	7	0	0	0	0	0	0	0	1	2	1	2	2	2	3	5	2	2	4	5			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr4:123160846G>A	ENST00000264501.4	+	29	4382	c.4009G>A	c.(4009-4011)Gtt>Att	p.V1337I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V1337I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V1337I|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1337					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						GCCTGTAACAGTTGGAGTCCA	0.453																																						.											0													113	107	109					4																	123160846		1929	4137	6066	SO:0001583	missense	84162			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.4009G>A	4.37:g.123160846G>A	ENSP00000264501:p.Val1337Ile		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702329|2.702329	0.48307|0.48307	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.24151	.|2.46;2.46;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.167504	.|0.24285	.|U	.|0.039870	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.08118|0.08118	0|0	0.31861|0.31861	N|N	0.620946|0.620946	.|B	.|0.17038	.|0.02	.|B	.|0.19148	.|0.024	T|T	0.08700|0.08700	-1.0709|-1.0709	5|10	.|0.52906	.|T	.|0.07	.|.	15.204|15.204	0.73162|0.73162	0.0:0.0:0.8592:0.1407|0.0:0.0:0.8592:0.1407	.|.	.|1337	.|Q2LD37	.|K1109_HUMAN	N|I	1168|1337	.|ENSP00000264501:V1337I;ENSP00000373390:V1337I;ENSP00000389925:V1337I	.|ENSP00000264501:V1337I	S|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123380296|123380296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.351000|7.351000	0.79395|0.79395	2.843000|2.843000	0.97960|0.97960	0.650000|0.650000	0.86243|0.86243	AGT|GTT		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123160846	G	A	123160846	3	1	22	1	0	0	0	0	1	0	0	0	8208	1029	36	4	4115	4	KIAA1109	4	123160846	Missense_Mutation	SNP	G	TCGA-KL-8344-01A-11D-2310-10	10094086	123160846	67993430	19	1665											
RASA1	5921	broad.mit.edu	37	chr5	86564705	86564706	+	Frame_Shift_Ins	INS	-	-	G																															cccccttacctgccccctttINSgggggcgggcctcgggacag																										TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr5:86564705_86564706insG	ENST00000274376.6	+	1	1001_1002	c.437_438insG	c.(436-441)ttggggfs	p.LG146fs	RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	146					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.L146S(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCCCCCTTTGGGGGCGGGCC	0.624																																						.											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.442dupG	5.37:g.86564710_86564710dupG	ENSP00000274376:p.Leu146fs		B2R6W3|Q9UDI1	Frame_Shift_Ins	INS	ENST00000274376.6	37	CCDS34200.1																																																																																				0.624	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		G	86564706	-	G	86564705	7	5	22	1	0	1	1	0	0	0	0	0	13060	1821	63	0	439	0	RASA1	5	86564705	Frame_Shift_Ins	INS	-	TCGA-KL-8344-01A-11D-2310-10		86564705	94350555	20	1666											
HAVCR1	26762	ucsc.edu	37	chr5	156479572	156479572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcgttggaacagtcgtcAttggaacagtcgttgtcgtt	7	15	12	7	4	1	0	1	0	0	0	5	2	1	2	0	2	2	3	0	2	2	5	rs6149307|rs386693994|rs2862716|rs141023871	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr5:156479572A>G	ENST00000339252.3	-	3	1005	c.473T>C	c.(472-474)aTg>aCg	p.M158T	HAVCR1_ENST00000544197.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000522693.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000425854.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000523175.1_Missense_Mutation_p.M158T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACAGTCGTCATTGGAACAGT	0.488																																						.											0													415	305	343					5																	156479572		2083	3969	6052	SO:0001583	missense	26762			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.473T>C	5.37:g.156479572A>G	ENSP00000344844:p.Met158Thr		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.643576	0.00111	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.13196	2.61;2.65;2.65;2.61;2.65;2.67	1.56	-3.12	0.05282	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.35201	-0.9798	7	0.02654	T	1	.	1.0652	0.01609	0.1371:0.2458:0.3087:0.3084	rs2862716	.	.	.	T	158	ENSP00000428524:M158T;ENSP00000427898:M158T;ENSP00000344844:M158T;ENSP00000403333:M158T;ENSP00000440258:M158T;ENSP00000428422:M158T	ENSP00000344844:M158T	M	-	2	0	HAVCR1	156412150	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.922000	0.28734	-2.668000	0.00415	-0.551000	0.04211	ATG		0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			G	156479572	A	G	156479572	3	3	22	1	0	0	0	0	1	0	0	0	6973	217	8	4	645	4	HAVCR1	5	156479572	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	69914867	156479572	24435688	21	1667											
EHMT2	10919	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr6	31848534	31848534	+	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	cttggtgcagcatgaagaccCggacgggaatgatgttgggg	9	8	17	7	2	0	3	0	2	0	1	0	5	0	5	1	5	2	3	1	5	2	2			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:31848534C>A	ENST00000375537.4	-	27	3374	c.3368G>T	c.(3367-3369)cGg>cTg	p.R1123L	SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1089L|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.R1180L|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1146L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1123	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						CATGAAGACCCGGACGGGAAT	0.567																																						.											0													169	131	144					6																	31848534		2203	4300	6503	SO:0001583	missense	10919			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.3368G>T	6.37:g.31848534C>A	ENSP00000364687:p.Arg1123Leu		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217511	0.79352	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	4.21	4.21	0.49690	SET domain (3);	0.000000	0.64402	D	0.000001	D	0.86053	0.5841	M	0.69358	2.11	0.80722	D	1	P;P;D;D	0.76494	0.683;0.75;0.995;0.999	B;P;P;D	0.72982	0.308;0.515;0.738;0.979	D	0.87823	0.2639	10	0.87932	D	0	.	15.8428	0.78864	0.0:1.0:0.0:0.0	.	1146;1089;1123;944	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1180;1146;1089;1123;944	ENSP00000379078:R1180L;ENSP00000364678:R1146L;ENSP00000364680:R1089L;ENSP00000364687:R1123L	ENSP00000364678:R1146L	R	-	2	0	EHMT2	31956513	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.194000	0.77789	2.355000	0.79922	0.561000	0.74099	CGG		0.567	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31848534	C	A	31848534	3	1	22	1	0	0	0	0	1	0	0	0	4984	652	23	5	272	5	EHMT2	6	31848534	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10		31848534	139266533	22	1668											
TTBK1	84630	ucsc.edu;bcgsc.ca	37	chr6	43230987	43230987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgatggccgttccgagAcgtcacagccccccacgcct	7	5	12	17	5	1	1	1	0	0	1	2	3	2	1	6	2	1	1	6	2	0	1			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:43230987A>G	ENST00000259750.4	+	13	1968	c.1885A>G	c.(1885-1887)Acg>Gcg	p.T629A	TTBK1_ENST00000304139.5_Missense_Mutation_p.T578A	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	629					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)			CCGTTCCGAGACGTCACAGCC	0.716																																						.											0													13	13	13					6																	43230987		2172	4263	6435	SO:0001583	missense	84630			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.1885A>G	6.37:g.43230987A>G	ENSP00000259750:p.Thr629Ala		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978679	0.18812	.	.	ENSG00000146216	ENST00000259750	T	0.26373	1.74	5.03	2.44	0.29823	.	0.606227	0.16970	N	0.192123	T	0.02610	0.0079	N	0.08118	0	0.80722	D	1	P;B	0.37500	0.597;0.062	B;B	0.31614	0.133;0.017	T	0.25467	-1.0131	10	0.05721	T	0.95	.	7.0043	0.24828	0.7468:0.1613:0.0919:0.0	.	152;629	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	A	629	ENSP00000259750:T629A	ENSP00000259750:T629A	T	+	1	0	TTBK1	43338965	0.863000	0.29885	0.934000	0.37439	0.385000	0.30292	0.798000	0.27014	0.765000	0.33221	0.460000	0.39030	ACG		0.716	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			G	43230987	A	G	43230987	3	3	22	1	0	0	0	0	1	0	0	0	16673	275	10	2	1931	2	TTBK1	6	43230987	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	11382453	43230987	127884080	23	1669											
SENP6	26054	broad.mit.edu	37	chr6	76386858	76386858	+	Frame_Shift_Del	DEL	T	T	-																															ataaagaataacatctccaaTttttttgcgaaaattccctt																										TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:76386858delT	ENST00000447266.2	+	14	2212	c.1734delT	c.(1732-1734)aatfs	p.N578fs	SENP6_ENST00000370014.3_Frame_Shift_Del_p.N578fs|SENP6_ENST00000541192.1_Frame_Shift_Del_p.N174fs|SENP6_ENST00000370010.2_Frame_Shift_Del_p.N571fs|SENP6_ENST00000327284.8_Frame_Shift_Del_p.N571fs	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	578					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)				ACATCTCCAATTTTTTTGCGA	0.328																																						.											0													34	33	33					6																	76386858		1807	4066	5873	SO:0001589	frameshift_variant	26054				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.1734delT	6.37:g.76386858delT	ENSP00000402527:p.Asn578fs		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Frame_Shift_Del	DEL	ENST00000447266.2	37	CCDS47454.1																																																																																				0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		-	76386858	T	-	76386858	7	5	22	1	0	1	0	1	0	0	0	0	14050	1490	52	0	1788	0	SENP6	6	76386858	Frame_Shift_Del	DEL	T	TCGA-KL-8344-01A-11D-2310-10	33155871	76386858	94728209	24	1670											
SESN1	27244	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	109315685	109315685	+	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	ctgaagagaagacaaacataCtctctcttttttctatttca	13	15	4	9	0	4	3	1	1	3	2	5	4	4	3	0	0	2	0	0	0	5	6			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:109315685C>A	ENST00000356644.7	-	6	1017	c.923G>T	c.(922-924)aGt>aTt	p.S308I	SESN1_ENST00000436639.2_Missense_Mutation_p.S367I|SESN1_ENST00000302071.2_Missense_Mutation_p.S242I	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	308					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GACAAACATACTCTCTCTTTT	0.338																																						.											0													137	123	128					6																	109315685		2203	4299	6502	SO:0001583	missense	27244			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.923G>T	6.37:g.109315685C>A	ENSP00000349061:p.Ser308Ile		Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297729	0.81025	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.24350	1.86;1.86;1.86	5.81	5.81	0.92471	.	0.036231	0.85682	D	0.000000	T	0.34832	0.0911	M	0.86953	2.85	0.80722	D	1	P;P	0.48016	0.904;0.611	P;B	0.45829	0.494;0.425	T	0.30475	-0.9977	10	0.38643	T	0.18	-50.3162	20.0912	0.97820	0.0:1.0:0.0:0.0	.	367;308	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	I	367;242;308	ENSP00000393762:S367I;ENSP00000306734:S242I;ENSP00000349061:S308I	ENSP00000306734:S242I	S	-	2	0	SESN1	109422378	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	7.487000	0.81328	2.746000	0.94184	0.591000	0.81541	AGT		0.338	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		A	109315685	C	A	109315685	3	1	22	1	0	0	0	0	1	0	0	0	14124	565	20	5	575	5	SESN1	6	109315685	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	32928827	109315685	61799382	25	1671											
CCDC28A	25901	bcgsc.ca	37	chr6	139101036	139101036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatccagcactccttccTcactgatgtctcagatgttc	7	13	6	15	1	2	2	2	1	1	1	8	3	6	2	4	0	1	2	4	0	0	2			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:139101036T>C	ENST00000332797.6	+	3	661	c.506T>C	c.(505-507)cTc>cCc	p.L169P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	169										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CACTCCTTCCTCACTGATGTC	0.458																																						.											0													125	114	118					6																	139101036		2203	4300	6503	SO:0001583	missense	25901			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.506T>C	6.37:g.139101036T>C	ENSP00000332716:p.Leu169Pro		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.527689	0.85706	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.39229	1.09	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60692	-0.7213	10	0.87932	D	0	-13.6279	16.4381	0.83884	0.0:0.0:0.0:1.0	.	169	Q8IWP9	CC28A_HUMAN	P	169;56	ENSP00000332716:L169P	ENSP00000026464:L56P	L	+	2	0	CCDC28A	139142729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.650000	0.83521	2.280000	0.76307	0.533000	0.62120	CTC		0.458	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		C	139101036	T	C	139101036	3	2	22	1	0	0	0	0	1	0	0	0	2802	1551	54	2	516	2	CCDC28A	6	139101036	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	29785351	139101036	32014031	26	1672											
PCLO	27445	broad.mit.edu	37	chr7	82579183	82579183	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattgaggactttgtgtgTctgaatctgcttctgtttga	7	18	11	5	0	3	3	0	3	3	0	3	5	3	4	0	1	1	2	0	1	2	5	rs201013392		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr7:82579183T>C	ENST00000333891.9	-	6	11058	c.10721A>G	c.(10720-10722)gAc>gGc	p.D3574G	PCLO_ENST00000423517.2_Missense_Mutation_p.D3574G|PCLO_ENST00000437081.1_Missense_Mutation_p.D294G	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						ACTTTGTGTGTCTGAATCTGC	0.443																																						.											0								T	GLY/ASP,GLY/ASP	0,4076		0,0,2038	190	183	185		10721,10721	5.7	1	7		185	2,8374		0,2,4186	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	94,94	0,2,6224	CC,CT,TT		0.0239,0.0,0.0161	probably-damaging,probably-damaging	3574/4936,3574/5143	82579183	2,12450	2038	4188	6226	SO:0001583	missense	27445			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.10721A>G	7.37:g.82579183T>C	ENSP00000334319:p.Asp3574Gly			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878485	0.33162	0.0	2.39E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17528	2.29;2.27	5.72	5.72	0.89469	.	.	.	.	.	T	0.35770	0.0943	L	0.50333	1.59	0.51012	D	0.999901	B;D;D	0.63046	0.2;0.992;0.992	B;D;D	0.65233	0.161;0.933;0.933	T	0.05338	-1.0891	9	0.87932	D	0	.	16.007	0.80370	0.0:0.0:0.0:1.0	.	3505;3574;3574	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	G	3505;3574;3574;294	ENSP00000334319:D3574G;ENSP00000388393:D3574G	ENSP00000334319:D3574G	D	-	2	0	PCLO	82417119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.779000	0.85648	2.182000	0.69389	0.533000	0.62120	GAC		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82579183	T	C	82579183	3	2	22	1	0	0	0	0	1	0	0	0	11583	1667	58	2	4804	2	PCLO	7	82579183	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10		82579183	76559480	27	1673											
ANKIB1	54467	bcgsc.ca	37	chr7	91948698	91948698	+	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	agaatgaaaataaagatactCcttgtgattgtgctgaaaag	17	11	9	4	0	0	5	0	3	0	2	1	5	1	5	1	0	2	1	1	0	8	4			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr7:91948698C>T	ENST00000265742.3	+	4	917	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	181							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)			TAAAGATACTCCTTGTGATTG	0.368																																						.											0													64	62	63					7																	91948698		1826	4072	5898	SO:0001583	missense	54467			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.541C>T	7.37:g.91948698C>T	ENSP00000265742:p.Pro181Ser		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588499	0.86851	.	.	ENSG00000001629	ENST00000265742	T	0.60920	0.15	4.77	4.77	0.60923	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.83118	2.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.81883	-0.0728	10	0.72032	D	0.01	.	18.3268	0.90256	0.0:1.0:0.0:0.0	.	181	Q9P2G1	AKIB1_HUMAN	S	181	ENSP00000265742:P181S	ENSP00000265742:P181S	P	+	1	0	ANKIB1	91786634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.224000	0.78042	2.628000	0.89032	0.655000	0.94253	CCT		0.368	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			T	91948698	C	T	91948698	3	4	22	1	0	0	0	0	1	0	0	0	630	855	30	3	551	3	ANKIB1	7	91948698	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	9369515	91948698	67189965	28	1674											
RB1CC1	9821	broad.mit.edu	37	chr8	53586752	53586752	+	Missense_Mutation	SNP	T	T	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	ttcaggtaaagaatccagtcTtcccaaacattctctgtaac	13	12	5	11	0	3	1	1	0	2	1	6	1	5	1	2	1	2	2	2	1	5	5			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:53586752T>C	ENST00000025008.5	-	7	1178	c.655A>G	c.(655-657)Aga>Gga	p.R219G	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R219G|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R219G|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	219					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAATCCAGTCTTCCCAAACAT	0.403																																					GBM(180;1701 2102 13475 42023 52570)	.											0													184	177	179					8																	53586752		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.655A>G	8.37:g.53586752T>C	ENSP00000025008:p.Arg219Gly		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683988	0.68157	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15834	2.39;2.39;2.39	5.36	5.36	0.76844	.	0.065424	0.64402	D	0.000004	T	0.23727	0.0574	L	0.38175	1.15	0.50039	D	0.999845	P;P	0.52316	0.952;0.919	P;P	0.53360	0.724;0.534	T	0.00792	-1.1564	10	0.62326	D	0.03	-19.8011	12.2052	0.54348	0.0:0.0:0.1423:0.8577	.	219;219	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	G	219	ENSP00000025008:R219G;ENSP00000396067:R219G;ENSP00000445960:R219G	ENSP00000025008:R219G	R	-	1	2	RB1CC1	53749305	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.830000	0.55768	2.151000	0.67156	0.383000	0.25322	AGA		0.403	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		C	53586752	T	C	53586752	3	2	22	1	0	0	0	0	1	0	0	0	13099	1617	56	2	4201	2	RB1CC1	8	53586752	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10		53586752	92777270	29	1675											
ODF1	4956	ucsc.edu;mdanderson.org	37	chr8	103573033	103573033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacccctgcagcccctgcaAcccgtgcagcccatatgatc	9	6	7	19	1	0	1	0	1	0	0	1	1	0	1	6	0	7	3	6	0	3	1	rs143802899|rs568456031|rs377699584|rs62523272|rs386728348|rs58232162	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:103573033A>G	ENST00000285402.3	+	2	830	c.674A>G	c.(673-675)aAc>aGc	p.N225S	ODF1_ENST00000518835.1_Missense_Mutation_p.N18S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	225	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			agcccctgcaacccgtgcagc	0.557																																						.											1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											63	60	61					8																	103573033		2183	4220	6403	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.674A>G	8.37:g.103573033A>G	ENSP00000285402:p.Asn225Ser		Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	217	0.09935897435897435	29	0.05894308943089431	49	0.13535911602209943	79	0.1381118881118881	60	0.079155672823219	G	0.005	-2.144154	0.00332	.	.	ENSG00000155087	ENST00000285402;ENST00000518835	D;T	0.85088	-1.94;2.08	5.44	-0.902	0.10537	.	0.544159	0.18593	N	0.136697	T	0.01124	0.0037	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04930	-1.0917	10	0.02654	T	1	-14.2311	6.4233	0.21756	0.4671:0.128:0.4049:0.0	rs62523272	225	Q14990	ODFP1_HUMAN	S	225;18	ENSP00000285402:N225S;ENSP00000430023:N18S	ENSP00000285402:N225S	N	+	2	0	ODF1	103642209	0.011000	0.17503	0.007000	0.13788	0.007000	0.05969	0.064000	0.14437	-0.321000	0.08627	-0.128000	0.14901	AAC		0.557	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			G	103573033	A	G	103573033	3	3	22	1	0	0	0	0	1	0	0	0	10826	43	2	2	680	2	ODF1	8	103573033	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	49986281	103573033	42790989	30	1676											
SYBU	55638	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr8	110587964	110587964	+	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	cacatggaaagtctaggcacAgttcgtccctcagagagcca	12	7	10	12	1	2	1	1	0	1	1	4	3	3	2	2	2	1	2	2	2	2	2			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:110587964A>T	ENST00000422135.1	-	8	1678	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q	SYBU_ENST00000408908.2_Missense_Mutation_p.L388Q|SYBU_ENST00000528647.1_Missense_Mutation_p.L387Q|SYBU_ENST00000446070.2_Missense_Mutation_p.L387Q|SYBU_ENST00000533171.1_Missense_Mutation_p.L388Q|SYBU_ENST00000533065.1_Missense_Mutation_p.L269Q|SYBU_ENST00000433638.1_Missense_Mutation_p.L388Q|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000440310.1_Missense_Mutation_p.L388Q|SYBU_ENST00000532779.1_Missense_Mutation_p.L320Q|SYBU_ENST00000399066.3_Missense_Mutation_p.L385Q|SYBU_ENST00000276646.9_Missense_Mutation_p.L388Q|SYBU_ENST00000424158.2_Missense_Mutation_p.L393Q|SYBU_ENST00000529690.1_Missense_Mutation_p.L258Q|SYBU_ENST00000529175.1_Missense_Mutation_p.L182Q|SYBU_ENST00000419099.1_Missense_Mutation_p.L387Q|SYBU_ENST00000528331.1_Missense_Mutation_p.L269Q|SYBU_ENST00000533895.1_Missense_Mutation_p.L387Q|SYBU_ENST00000408889.3_Missense_Mutation_p.L269Q	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	388	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				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						GTCTAGGCACAGTTCGTCCCT	0.483																																						.											0													74	79	77					8																	110587964		1982	4165	6147	SO:0001583	missense	55638			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.1163T>A	8.37:g.110587964A>T	ENSP00000407118:p.Leu388Gln		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378544	0.24944	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.89	4.62	0.57501	.	0.488467	0.22308	N	0.061771	T	0.34919	0.0914	L	0.41824	1.3	0.32015	N	0.601572	B;B;B;B;B	0.20052	0.041;0.041;0.016;0.041;0.041	B;B;B;B;B	0.16722	0.011;0.016;0.015;0.011;0.011	T	0.35968	-0.9767	9	0.38643	T	0.18	-16.3088	6.0956	0.20019	0.7296:0.0:0.0841:0.1863	.	258;320;387;388;385	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	Q	387;393;320;385;387;269;182;388;387;388;387;388;388;388;269;269;258;388	.	ENSP00000276646:L388Q	L	-	2	0	SYBU	110657140	0.868000	0.29978	1.000000	0.80357	0.898000	0.52572	1.700000	0.37815	2.251000	0.74343	0.482000	0.46254	CTG		0.483	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		T	110587964	A	T	110587964	3	4	22	1	0	0	0	0	1	0	0	0	15424	188	7	5	832	5	SYBU	8	110587964	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	7014931	110587964	35776058	31	1677											
JAK2	3717	ucsc.edu	37	chr9	5073722	5073722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaagcagcaagtatgAtgagcaagctttctcacaag	13	11	9	8	0	2	3	1	3	2	0	3	3	2	3	0	0	4	5	0	0	5	3			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:5073722A>G	ENST00000381652.3	+	14	2295	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	JAK2_ENST00000539801.1_Missense_Mutation_p.M601V|JAK2_ENST00000544510.1_Missense_Mutation_p.M452V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	601	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)	AGCAAGTATGATGAGCAAGCT	0.353		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													.		Dom	yes		9	9p24	3717	Janus kinase 2		L	0													110	122	118					9																	5073722		2203	4299	6502	SO:0001583	missense	3717	Familial Cancer Database			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.1801A>G	9.37:g.5073722A>G	ENSP00000371067:p.Met601Val		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401142	0.83120	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.86030	-2.06;-2.06;-2.06	5.51	5.51	0.81932	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	0.86653	0.5984	L	0.58428	1.81	0.80722	D	1	P	0.49961	0.93	P	0.48425	0.577	D	0.88353	0.2982	10	0.87932	D	0	-21.4242	15.6147	0.76756	1.0:0.0:0.0:0.0	.	601	O60674	JAK2_HUMAN	V	601;601;452	ENSP00000440387:M601V;ENSP00000371067:M601V;ENSP00000443103:M452V	ENSP00000371067:M601V	M	+	1	0	JAK2	5063722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.880000	0.92407	2.088000	0.63022	0.482000	0.46254	ATG		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			G	5073722	A	G	5073722	3	3	22	1	0	0	0	0	1	0	0	0	7938	333	12	4	1847	4	JAK2	9	5073722	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10		5073722	136139709	32	1678											
FLJ46321	389763	bcgsc.ca	37	chr9	84607861	84607861	+	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	tgagactaggtcagaaacaaCttgaaaatgccctgacagta	16	8	9	8	0	1	4	1	3	0	2	1	5	1	4	1	1	3	1	1	1	6	3	rs552420674		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:84607861C>T	ENST00000344803.2	+	4	2523	c.2476C>T	c.(2476-2478)Ctt>Ttt	p.L826F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	826					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGAAACAACTTGAAAATGC	0.453																																						.											0													71	67	68					9																	84607861		1858	4087	5945	SO:0001583	missense	389763				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.2476C>T	9.37:g.84607861C>T	ENSP00000341988:p.Leu826Phe			Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	8.324	0.825025	0.16678	.	.	ENSG00000214929	ENST00000344803	T	0.10668	2.85	2.74	0.327	0.15913	.	2.011690	0.02194	N	0.061661	T	0.22551	0.0544	L	0.45581	1.43	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.11966	-1.0566	10	0.33141	T	0.24	-2.2865	2.442	0.04497	0.2628:0.5151:0.0:0.2221	.	826	Q6ZQQ2	F75D1_HUMAN	F	826	ENSP00000341988:L826F	ENSP00000341988:L826F	L	+	1	0	FAM75D1	83797681	0.003000	0.15002	0.003000	0.11579	0.053000	0.15095	0.692000	0.25482	0.072000	0.16694	0.563000	0.77884	CTT		0.453	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84607861	C	T	84607861	3	4	22	1	0	0	0	0	1	0	0	0	5932	565	20	4	2490	4	FLJ46321	9	84607861	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	79534139	84607861	56605570	33	1679											
RC3H2	54542	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	125616244	125616244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttacctctccatttcttAgttcaatttccttgcttaaa	8	20	2	11	0	4	0	1	0	3	0	6	0	5	0	3	0	2	2	3	0	5	8			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:125616244A>G	ENST00000373670.1	-	17	3704	c.3104T>C	c.(3103-3105)cTa>cCa	p.L1035P	RC3H2_ENST00000423239.2_Missense_Mutation_p.L1035P|RC3H2_ENST00000357244.2_Missense_Mutation_p.L1035P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1035					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						TCCATTTCTTAGTTCAATTTC	0.413																																						.											0													119	109	112					9																	125616244		1885	4119	6004	SO:0001583	missense	54542			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.3104T>C	9.37:g.125616244A>G	ENSP00000362774:p.Leu1035Pro		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.66|17.66	3.443823|3.443823	0.63067|0.63067	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239|ENST00000454740	T;T;T|.	0.54675|.	0.77;0.77;0.56|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|.	0.38852|.	0.1056|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.995;0.997|.	D;D|.	0.78314|.	0.979;0.991|.	T|.	0.34304|.	-0.9834|.	10|.	0.46703|.	T|.	0.11|.	-19.9616|-19.9616	14.3157|14.3157	0.66450|0.66450	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1035;1035|.	Q9HBD1;Q9HBD1-4|.	RC3H2_HUMAN;.|.	P|Q	1035;1035;906;1035|94	ENSP00000362774:L1035P;ENSP00000349783:L1035P;ENSP00000411767:L1035P|.	ENSP00000349783:L1035P|.	L|X	-|-	2|1	0|0	RC3H2|RC3H2	124656065|124656065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.078000|4.078000	0.57606|0.57606	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTA|TAA		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		G	125616244	A	G	125616244	3	3	22	1	0	0	0	0	1	0	0	0	13167	420	15	2	565	2	RC3H2	9	125616244	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	41008383	125616244	15597187	34	1680											
RAPGEF1	2889	broad.mit.edu;bcgsc.ca	37	chr9	134504010	134504010	+	Missense_Mutation	SNP	T	T	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	ggccaccacagccactcgggTaggggacggcgccgactgtc	7	4	15	15	4	0	0	0	0	0	0	2	2	0	1	4	5	1	1	4	5	1	1			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:134504010T>C	ENST00000372189.3	-	8	1015	c.892A>G	c.(892-894)Acc>Gcc	p.T298A	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T316A|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.T315A	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	298					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)		GCCACTCGGGTAGGGGACGGC	0.587																																						.											0													51	55	54					9																	134504010		1946	4146	6092	SO:0001583	missense	2889			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.892A>G	9.37:g.134504010T>C	ENSP00000361263:p.Thr298Ala		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437067	0.83885	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.47869	0.83;0.83;0.83	5.0	5.0	0.66597	.	0.204155	0.50627	D	0.000108	T	0.59742	0.2216	M	0.64997	1.995	0.53688	D	0.999979	D;D;D	0.61080	0.982;0.964;0.989	P;P;P	0.60949	0.764;0.764;0.881	T	0.56498	-0.7969	10	0.20046	T	0.44	.	13.8882	0.63721	0.0:0.0:0.0:1.0	.	315;298;316	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	A	298;315;192;298;316;278;224;315	ENSP00000361269:T315A;ENSP00000361263:T298A;ENSP00000361264:T316A	ENSP00000266110:T298A	T	-	1	0	RAPGEF1	133493831	1.000000	0.71417	0.943000	0.38184	0.944000	0.59088	5.628000	0.67791	1.873000	0.54277	0.379000	0.24179	ACC		0.587	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		C	134504010	T	C	134504010	3	2	22	1	0	0	0	0	1	0	0	0	13043	1638	57	2	2409	2	RAPGEF1	9	134504010	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	8887766	134504010	6709421	35	1681											
ARID5B	84159	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr10	63851395	63851395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaaaagaaactgattgctAgggatgacttgtgttccagt	13	11	11	6	0	0	3	0	2	0	1	1	4	1	4	1	1	2	3	1	1	4	4			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr10:63851395A>G	ENST00000279873.7	+	10	2583	c.2173A>G	c.(2173-2175)Agg>Ggg	p.R725G	ARID5B_ENST00000309334.5_Missense_Mutation_p.R482G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	725					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)					ACTGATTGCTAGGGATGACTT	0.527																																						.											0													117	117	117					10																	63851395		2203	4300	6503	SO:0001583	missense	84159			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.2173A>G	10.37:g.63851395A>G	ENSP00000279873:p.Arg725Gly		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.623365	0.28889	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.48836	0.81;0.8	5.87	2.04	0.26737	.	0.348813	0.35407	N	0.003240	T	0.35595	0.0937	L	0.46157	1.445	0.38041	D	0.93547	P	0.38922	0.651	B	0.29598	0.104	T	0.23226	-1.0194	10	0.40728	T	0.16	-22.096	13.3072	0.60359	0.6222:0.3778:0.0:0.0	.	725	Q14865	ARI5B_HUMAN	G	725;482	ENSP00000279873:R725G;ENSP00000308862:R482G	ENSP00000279873:R725G	R	+	1	2	ARID5B	63521401	0.973000	0.33851	0.231000	0.23993	0.995000	0.86356	2.314000	0.43743	0.088000	0.17205	0.533000	0.62120	AGG		0.527	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		G	63851395	A	G	63851395	3	3	22	1	0	0	0	0	1	0	0	0	922	411	15	2	2211	2	ARID5B	10	63851395	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10		63851395	71683352	36	1682											
TALDO1	6888	broad.mit.edu	37	chr11	763428	763428	+	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	gtggcctgtgccgaggcgggTgtgaccctcatctccccatt	4	10	13	14	2	2	1	1	1	1	0	3	2	2	1	5	3	1	0	5	3	0	1			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:763428T>G	ENST00000319006.3	+	5	699	c.546T>G	c.(544-546)ggT>ggG	p.G182G	TALDO1_ENST00000528097.1_Silent_p.G182G			P37837	TALDO_HUMAN	transaldolase 1	182					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		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;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CCGAGGCGGGTGTGACCCTCA	0.607																																						.											0													131	120	124					11																	763428		2203	4300	6503	SO:0001819	synonymous_variant	6888				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.546T>G	11.37:g.763428T>G			B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	CCDS7712.1																																																																																				0.607	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		G	763428	T	G	763428	2	3	22	1	0	0	0	0	0	0	0	1	15540	1683	59	5		5	TALDO1	11	763428	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10		763428	134243088	37	1683											
MUC2	4583	mdanderson.org	37	chr11	1093158	1093158	+	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	acacccatcaccaccaccacTacggtgacaccaaccccaac	14	3	3	21	1	1	1	1	1	0	0	1	1	1	1	7	1	3	0	7	1	3	1	rs202045556		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:1093158T>C	ENST00000441003.2	+	30	5004	c.4977T>C	c.(4975-4977)acT>acC	p.T1659T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1626T	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)	ccaccaccactacggtgacac	0.637																																						.											0													135	203	179					11																	1093158		1808	3330	5138	SO:0001819	synonymous_variant	4583			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.4977T>C	11.37:g.1093158T>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093158	T	C	1093158	2	2	22	1	0	0	0	0	0	0	0	1	9975	1509	53	2		2	MUC2	11	1093158	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10	329730	1093158	133913358	38	1684											
OSBPL5	114879	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	3114269	3114269	+	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	cttgctgatggccctggtgaCgtgctgccagagcctgcggg	4	9	16	12	2	0	3	0	2	0	1	0	3	0	3	3	3	5	2	3	3	0	1			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:3114269C>T	ENST00000263650.7	-	18	2119	c.1960G>A	c.(1960-1962)Gtc>Atc	p.V654I	OSBPL5_ENST00000389989.3_Missense_Mutation_p.V586I|OSBPL5_ENST00000525498.1_Missense_Mutation_p.V565I|OSBPL5_ENST00000542243.1_Missense_Mutation_p.V285I|OSBPL5_ENST00000348039.5_Missense_Mutation_p.V586I|OSBPL5_ENST00000478260.1_Missense_Mutation_p.V108I	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	654					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCCCTGGTGACGTGCTGCCAG	0.682																																						.											0													35	29	31					11																	3114269		2201	4295	6496	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1960G>A	11.37:g.3114269C>T	ENSP00000263650:p.Val654Ile		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169387	0.94768	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000003	T	0.69788	0.3150	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.80108	-0.1520	10	0.87932	D	0	-24.8915	16.7396	0.85455	0.0:1.0:0.0:0.0	.	565;586;654	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	I	108;654;586;207;565;285;586;273	ENSP00000437141:V108I;ENSP00000263650:V654I;ENSP00000374639:V586I;ENSP00000431412:V207I;ENSP00000433342:V565I;ENSP00000441551:V285I;ENSP00000302872:V586I	ENSP00000263650:V654I	V	-	1	0	OSBPL5	3070845	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	6.843000	0.75384	2.275000	0.75901	0.561000	0.74099	GTC		0.682	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			T	3114269	C	T	3114269	3	4	22	1	0	0	0	0	1	0	0	0	11280	536	19	1	699	1	OSBPL5	11	3114269	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	2021111	3114269	131892247	39	1685											
LRRC4C	57689	broad.mit.edu;mdanderson.org	37	chr11	40136544	40136544	+	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	gtggctgaagcagtagtattCccaacggaattactcaccat	12	10	9	10	1	1	1	1	1	0	0	2	2	2	2	2	2	3	4	2	2	6	4			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:40136544C>G	ENST00000278198.2	-	2	3262	c.1299G>C	c.(1297-1299)ggG>ggC	p.G433G	LRRC4C_ENST00000528697.1_Silent_p.G433G|LRRC4C_ENST00000530763.1_Silent_p.G433G|LRRC4C_ENST00000527150.1_Silent_p.G433G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	433	Ig-like C2-type.				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)				CAGTAGTATTCCCAACGGAAT	0.443																																						.											0													188	168	174					11																	40136544		2203	4300	6503	SO:0001819	synonymous_variant	57689			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.1299G>C	11.37:g.40136544C>G			A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		G	40136544	C	G	40136544	2	3	22	1	0	0	0	0	0	0	0	1	9008	842	30	5		5	LRRC4C	11	40136544	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10	37022275	40136544	94869972	40	1686											
OR4A16	81327	mdanderson.org	37	chr11	55111509	55111509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttattcaattatcacacTcatgttgaatcctttaatat	12	19	3	7	0	3	1	3	1	0	0	4	1	4	1	1	0	0	2	1	0	6	8	rs75872349		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:55111509T>C	ENST00000314721.2	+	1	883	c.833T>C	c.(832-834)cTc>cCc	p.L278P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	278						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(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						ATTATCACACTCATGTTGAAT	0.318																																						.											0													88	83	85					11																	55111509		2201	4296	6497	SO:0001583	missense	81327			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.833T>C	11.37:g.55111509T>C	ENSP00000325128:p.Leu278Pro		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	0.003	-2.557746	0.00136	.	.	ENSG00000181961	ENST00000314721	T	0.30714	1.52	2.86	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.42276	D	0.992077	B	0.02656	0.0	B	0.01281	0.0	T	0.23332	-1.0191	9	0.02654	T	1	.	8.2698	0.31838	0.0:0.87:0.0:0.13	.	278	Q8NH70	O4A16_HUMAN	P	278	ENSP00000325128:L278P	ENSP00000325128:L278P	L	+	2	0	OR4A16	54868085	0.136000	0.22515	0.992000	0.48379	0.230000	0.25150	2.565000	0.45939	0.507000	0.28148	-0.968000	0.02614	CTC		0.318	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		C	55111509	T	C	55111509	3	2	22	1	0	0	0	0	1	0	0	0	11041	1551	54	2	835	2	OR4A16	11	55111509	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	14974965	55111509	79895007	41	1687											
CASP4	837	bcgsc.ca	37	chr11	104817887	104817887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtgtgatgaagatagAgcccattgtgctgtctctcc	8	13	12	8	0	1	4	0	2	1	2	3	5	2	4	2	0	2	2	2	0	2	3			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:104817887A>G	ENST00000444739.2	-	7	1868	c.958T>C	c.(958-960)Tct>Cct	p.S320P	CASP4_ENST00000393150.3_Missense_Mutation_p.S264P|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	320					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATGAAGATAGAGCCCATTGTG	0.403																																						.											0													198	178	185					11																	104817887		2202	4299	6501	SO:0001583	missense	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.958T>C	11.37:g.104817887A>G	ENSP00000388566:p.Ser320Pro		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381149	0.42207	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.36520	1.25;1.25	5.11	5.11	0.69529	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.063418	0.64402	D	0.000004	T	0.69151	0.3079	H	0.94462	3.54	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.78201	-0.2296	10	0.72032	D	0.01	.	12.8401	0.57797	1.0:0.0:0.0:0.0	.	320	P49662	CASP4_HUMAN	P	320;264;273	ENSP00000388566:S320P;ENSP00000376857:S264P	ENSP00000347741:S273P	S	-	1	0	CASP4	104323097	1.000000	0.71417	0.146000	0.22360	0.021000	0.10359	4.319000	0.59197	1.912000	0.55364	0.528000	0.53228	TCT		0.403	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		G	104817887	A	G	104817887	3	3	22	1	0	0	0	0	1	0	0	0	2673	304	11	2	183	2	CASP4	11	104817887	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	49706378	104817887	30188629	42	1688											
TMPRSS13	84000	ucsc.edu;mdanderson.org	37	chr11	117789317	117789317	+	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	agagccggagatgcccgggcTggagatgcctgggctggaga	8	5	19	9	2	0	4	0	0	0	4	0	7	0	4	3	5	3	2	3	5	0	0	rs201746372|rs58754377|rs201369736		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:117789317T>C	ENST00000430170.2	-	2	345	c.258A>G	c.(256-258)ccA>ccG	p.P86P	TMPRSS13_ENST00000526090.1_Silent_p.P86P|TMPRSS13_ENST00000445164.2_Silent_p.P86P|TMPRSS13_ENST00000524993.1_Silent_p.P86P|TMPRSS13_ENST00000528626.1_Silent_p.P86P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	86	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		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)		ATGCCCGGGCTGGAGATGCCT	0.652																																						.											1	Deletion - In frame(1)	urinary_tract(1)											34	41	38					11																	117789317		1955	4135	6090	SO:0001819	synonymous_variant	84000			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.258A>G	11.37:g.117789317T>C			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																				0.652	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		C	117789317	T	C	117789317	2	2	22	1	0	0	0	0	0	0	0	1	16242	1567	55	2		2	TMPRSS13	11	117789317	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10	12971430	117789317	17217199	43	1689											
LRRK2	120892	mdanderson.org	37	chr12	40728900	40728900	+	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	cgcctgcttcagcaggacaaAgccagcctcactagaaccct	11	6	8	16	1	2	1	2	0	0	1	2	2	2	2	4	1	5	2	4	1	3	2			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:40728900A>G	ENST00000298910.7	+	40	5947	c.5889A>G	c.(5887-5889)aaA>aaG	p.K1963K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1963	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				AGCAGGACAAAGCCAGCCTCA	0.502																																						.											0													120	111	114					12																	40728900		2203	4300	6503	SO:0001819	synonymous_variant	120892			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.5889A>G	12.37:g.40728900A>G			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.502	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40728900	A	G	40728900	2	3	22	1	0	0	0	0	0	0	0	1	9033	69	3	2		2	LRRK2	12	40728900	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10		40728900	93122995	44	1690											
WDR66	144406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	122406016	122406016	+	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	gccgtttcctatgatggctgCtacgccttcactgcgggagg	5	11	13	12	3	1	1	1	1	0	0	2	2	2	2	3	3	3	3	3	3	2	4			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:122406016C>T	ENST00000288912.4	+	17	3566	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	WDR66_ENST00000397454.2_Silent_p.C904C|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	904							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATGATGGCTGCTACGCCTTCA	0.537																																					Esophageal Squamous(85;849 1794 49757 52143)	.											0													69	69	69					12																	122406016		1964	4142	6106	SO:0001819	synonymous_variant	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2712C>T	12.37:g.122406016C>T			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	CCDS41853.1																																																																																				0.537	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		T	122406016	C	T	122406016	2	4	22	1	0	0	0	0	0	0	0	1	17314	805	28	4		4	WDR66	12	122406016	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10	81677116	122406016	11445879	45	1691											
PITPNM2	57605	broad.mit.edu	37	chr12	123481375	123481375	+	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	ctggtactggggggaggaggTggccagcagggggagggcag	7	4	24	6	0	0	0	0	0	0	0	0	3	0	3	1	10	2	3	1	10	1	1			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:123481375T>G	ENST00000542749.1	-	10	1618	c.1555A>C	c.(1555-1557)Acc>Ccc	p.T519P	PITPNM2_ENST00000320201.4_Missense_Mutation_p.T519P|PITPNM2_ENST00000392428.1_Missense_Mutation_p.T240P|PITPNM2_ENST00000280562.5_Missense_Mutation_p.T519P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	519					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)		GGGGAGGAGGTGGCCAGCAGG	0.622																																						.											0													48	49	49					12																	123481375		2203	4300	6503	SO:0001583	missense	57605			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.1555A>C	12.37:g.123481375T>G	ENSP00000437611:p.Thr519Pro		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616441	0.87359	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.947;0.995	T	0.49273	-0.8957	10	0.62326	D	0.03	-37.3047	14.1235	0.65205	0.0:0.0:0.0:1.0	.	519;519	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	P	519;519;240;519	ENSP00000280562:T519P;ENSP00000322218:T519P;ENSP00000376223:T240P;ENSP00000437611:T519P	ENSP00000280562:T519P	T	-	1	0	PITPNM2	122047328	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.252000	0.72447	1.750000	0.51863	0.254000	0.18369	ACC		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		G	123481375	T	G	123481375	3	3	22	1	0	0	0	0	1	0	0	0	11951	1696	59	5	2554	5	PITPNM2	12	123481375	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	1075359	123481375	10370520	46	1692											
C13orf34	79866	broad.mit.edu	37	chr13	73320117	73320117	+	Frame_Shift_Del	DEL	A	A	-																															agccctattcaggctagtgcAaaaaaatacagcttgggaag																										TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr13:73320117delA	ENST00000390667.5	+	9	871	c.774delA	c.(772-774)gcafs	p.A258fs	BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	258	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AGGCTAGTGCAAAAAAATACA	0.383																																						.											0													103	98	100					13																	73320117		1807	4062	5869	SO:0001589	frameshift_variant	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.774delA	13.37:g.73320117delA	ENSP00000375082:p.Ala258fs		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Frame_Shift_Del	DEL	ENST00000390667.5	37	CCDS9446.1																																																																																				0.383	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		-	73320117	A	-	73320117	7	5	22	1	0	1	0	1	0	0	0	0	1728	117	5	0	804	0	C13orf34	13	73320117	Frame_Shift_Del	DEL	A	TCGA-KL-8344-01A-11D-2310-10		73320117	41849761	47	1693											
COL4A1	1282	broad.mit.edu;bcgsc.ca	37	chr13	110833715	110833715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccccggtggccccatgTctccaggtaagccgtcaaca	8	7	11	15	2	2	0	1	0	1	0	4	1	3	0	6	3	2	1	6	3	2	1			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr13:110833715T>C	ENST00000375820.4	-	29	2238	c.2117A>G	c.(2116-2118)gAc>gGc	p.D706G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	706	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)			TGGCCCCATGTCTCCAGGTAA	0.493																																						.											0													41	40	41					13																	110833715		2203	4300	6503	SO:0001583	missense	1282			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.2117A>G	13.37:g.110833715T>C	ENSP00000364979:p.Asp706Gly		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	9.991	1.230828	0.22542	.	.	ENSG00000187498	ENST00000375820	D	0.93488	-3.23	4.86	3.69	0.42338	.	0.565133	0.18815	N	0.130417	D	0.89181	0.6642	L	0.43923	1.385	0.80722	D	1	P	0.50066	0.931	P	0.44359	0.447	D	0.85446	0.1158	10	0.22109	T	0.4	.	8.5381	0.33375	0.0:0.0:0.2674:0.7326	.	706	P02462	CO4A1_HUMAN	G	706	ENSP00000364979:D706G	ENSP00000364979:D706G	D	-	2	0	COL4A1	109631716	0.479000	0.25925	0.910000	0.35882	0.146000	0.21551	1.510000	0.35790	2.044000	0.60594	0.459000	0.35465	GAC		0.493	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			C	110833715	T	C	110833715	3	2	22	1	0	0	0	0	1	0	0	0	3689	1667	58	2	2988	2	COL4A1	13	110833715	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	37513598	110833715	4336163	48	1694											
OR11H12	440153	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	19377804	19377804	+	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	tgtggtgtgactggcgacttCacactcccatgtacatgttc	7	13	10	11	1	1	1	1	1	0	0	3	2	2	1	1	2	1	2	1	2	1	3			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr14:19377804C>A	ENST00000550708.1	+	1	283	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGCGACTTCACACTCCCAT	0.418																																						.											0													96	106	103					14																	19377804		1966	4090	6056	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.211C>A	14.37:g.19377804C>A	ENSP00000449002:p.His71Asn			Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	10.91	1.484578	0.26598	.	.	ENSG00000257115	ENST00000550708	T	0.15952	2.38	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000480	T	0.40322	0.1112	M	0.88775	2.98	0.22620	N	0.998921	D	0.76494	0.999	D	0.74023	0.982	T	0.54118	-0.8341	9	0.72032	D	0.01	.	7.1009	0.25336	0.0:0.9999:0.0:1.0E-4	.	71	B2RN74	O11HC_HUMAN	N	71	ENSP00000449002:H71N	ENSP00000449002:H71N	H	+	1	0	CR383656.1	18447804	0.637000	0.27216	0.160000	0.22671	0.093000	0.18481	1.738000	0.38207	0.619000	0.30197	0.064000	0.15345	CAC		0.418	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		A	19377804	C	A	19377804	3	1	22	1	0	0	0	0	1	0	0	0	10927	826	29	5	213	5	OR11H12	14	19377804	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10		19377804	87971736	49	1695											
DICER1	23405	hgsc.bcm.edu;ucsc.edu	37	chr14	95579561	95579561	+	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	cttggtaatctagcacagtaTctgtgaagaaaaagaaattc	16	11	8	6	0	2	3	0	1	2	2	3	3	2	3	0	1	1	3	0	1	7	5			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr14:95579561T>C	ENST00000526495.1	-	14	2199	c.1908A>G	c.(1906-1908)agA>agG	p.R636R	DICER1_ENST00000527414.1_Splice_Site_p.R636R|DICER1_ENST00000393063.1_Splice_Site_p.R636R|DICER1_ENST00000343455.3_Splice_Site_p.R636R|DICER1_ENST00000541352.1_Splice_Site_p.R636R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	636	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)		TAGCACAGTATCTGTGAAGAA	0.383			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													.	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													79	80	80					14																	95579561		2203	4300	6503	SO:0001630	splice_region_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	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.1908-1A>G	14.37:g.95579561T>C			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.383	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Silent	C	95579561	T	C	95579561	5	2	22	1	0	0	0	0	0	0	1	0	4521	1449	50	4	3924	4	DICER1	14	95579561	Splice_Site	SNP	T	TCGA-KL-8344-01A-11D-2310-10	76201757	95579561	11769979	50	1696											
MGA	23269	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr15	42034895	42034895	+	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	tctccagtaatggtcgtcacAcctgtggtttcttctgagcc	6	14	9	12	1	4	1	1	1	3	0	6	1	4	1	3	2	1	2	3	2	1	3			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr15:42034895A>G	ENST00000570161.1	+	14	4737	c.4737A>G	c.(4735-4737)acA>acG	p.T1579T	MGA_ENST00000389936.4_Silent_p.T1579T|MGA_ENST00000566586.1_Intron|MGA_ENST00000219905.7_Silent_p.T1579T|MGA_ENST00000545763.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	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)			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)	TGGTCGTCACACCTGTGGTTT	0.502																																						.											0													71	73	72					15																	42034895		1986	4165	6151	SO:0001819	synonymous_variant	23269			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.4737A>G	15.37:g.42034895A>G			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	CCDS55959.1																																																																																				0.502	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		G	42034895	A	G	42034895	2	3	22	1	0	0	0	0	0	0	0	1	9540	146	6	2		2	MGA	15	42034895	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10		42034895	60496497	51	1697											
FBN1	2200	broad.mit.edu	37	chr15	48812976	48812976	+	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	cagctggttagagcagcgccCgtttgtcagagctgtgtaac	8	10	13	10	2	1	2	1	0	0	2	1	2	1	2	1	1	5	6	1	1	2	3	rs146726731		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr15:48812976C>T	ENST00000316623.5	-	10	1482	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	343	TB 2.				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)		GAGCAGCGCCCGTTTGTCAGA	0.517													C|||	1	0.000199681	0	0.0014	5008	,	,		19045	0		0	False		,,,				2504	0					.											0			GRCh37	CM067393	FBN1	M	rs146726731	C	ARG/GLY	0,4394		0,0,2197	77	67	70		1027	5.7	0.9	15	dbSNP_134	70	2,8590	2.2+/-6.3	0,2,4294	yes	missense	FBN1	NM_000138.4	125	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	343/2872	48812976	2,12984	2197	4296	6493	SO:0001583	missense	2200			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.1027G>A	15.37:g.48812976C>T	ENSP00000325527:p.Gly343Arg		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.444036	0.96187	0.0	2.33E-4	ENSG00000166147	ENST00000316623	D	0.93426	-3.22	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96255	0.9186	10	0.52906	T	0.07	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	343	P35555	FBN1_HUMAN	R	343	ENSP00000325527:G343R	ENSP00000325527:G343R	G	-	1	0	FBN1	46600268	1.000000	0.71417	0.922000	0.36590	0.921000	0.55340	7.639000	0.83342	2.941000	0.99782	0.655000	0.94253	GGG		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48812976	C	T	48812976	3	4	22	1	0	0	0	0	1	0	0	0	5702	652	23	1	7816	1	FBN1	15	48812976	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	6778081	48812976	53718416	52	1698											
PDPR	55066	broad.mit.edu;mdanderson.org	37	chr16	70161181	70161181	+	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	aggctggctgctggctctacCaggttctgtgctggcatcct	4	12	13	12	0	2	0	0	0	2	0	3	0	3	0	2	5	3	7	2	5	1	2			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:70161181C>T	ENST00000288050.4	+	4	1203	c.246C>T	c.(244-246)acC>acT	p.T82T	PDPR_ENST00000398122.3_5'UTR|PDPR_ENST00000568530.1_Silent_p.T82T	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	82					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGGCTCTACCAGGTTCTGTG	0.463																																						.											0													35	32	33					16																	70161181		1826	4064	5890	SO:0001819	synonymous_variant	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.246C>T	16.37:g.70161181C>T			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	CCDS45520.1																																																																																				0.463	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		T	70161181	C	T	70161181	2	4	22	1	0	0	0	0	0	0	0	1	11689	581	21	4		4	PDPR	16	70161181	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10		70161181	20193572	53	1699											
KIAA0174	9798	ucsc.edu;mdanderson.org	37	chr16	71956529	71956529	+	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	ccaatgcccatgcccatgccCatgcctatgccatctgcaaa	10	8	6	17	0	1	0	0	0	1	0	1	0	1	0	6	0	6	1	6	0	3	1	rs28701631	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:71956529C>T	ENST00000378799.6	+	7	1061	c.705C>T	c.(703-705)ccC>ccT	p.P235P	IST1_ENST00000541571.2_Silent_p.P235P|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538850.1_Silent_p.P87P|IST1_ENST00000378798.5_Silent_p.P235P|IST1_ENST00000606369.1_Silent_p.P87P|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000329908.8_Silent_p.P235P|IST1_ENST00000544564.1_Silent_p.P235P|IST1_ENST00000535424.1_Silent_p.P248P			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	233	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgcccatgcccatgcctatgc	0.483													C|||	230	0.0459265	0.0197	0.0274	5008	,	,		18639	0.0258		0.0427	False		,,,				2504	0.1186					.											0													101	73	83					16																	71956529		2198	4300	6498	SO:0001819	synonymous_variant	9798			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.705C>T	16.37:g.71956529C>T			A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	58	0.026556776556776556	9	0.018292682926829267	10	0.027624309392265192	25	0.043706293706293704	14	0.018469656992084433	C	6.629	0.484439	0.12641	.	.	ENSG00000182149	ENST00000541848	.	.	.	.	.	.	.	0.095345	0.85682	D	0.000000	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12967	-1.0527	4	0.26408	T	0.33	-5.2082	.	.	.	rs28701631	.	.	.	L	122	.	ENSP00000437499:P122L	P	+	2	0	KIAA0174	70514030	0.004000	0.15560	0.997000	0.53966	0.971000	0.66376	-3.311000	0.00517	0.361000	0.24292	0.366000	0.22137	CCA		0.483	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		T	71956529	C	T	71956529	2	4	22	1	0	0	0	0	0	0	0	1	8158	581	21	4		4	KIAA0174	16	71956529	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10	1795348	71956529	18398224	54	1700											
WDR59	79726	ucsc.edu	37	chr16	74942865	74942865	+	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	gtcatgggccttgtgaaataTaccaggtaacctaaaggagg	13	9	12	7	0	1	1	1	1	0	0	1	2	1	2	3	4	2	1	3	4	6	5	rs141093453	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:74942865T>C	ENST00000262144.6	-	17	1783	c.1653A>G	c.(1651-1653)gtA>gtG	p.V551V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	551										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTGAAATATACCAGGTAAC	0.547																																						.											0													90	79	83					16																	74942865		2198	4300	6498	SO:0001819	synonymous_variant	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1653A>G	16.37:g.74942865T>C			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.547	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74942865	T	C	74942865	2	2	22	1	0	0	0	0	0	0	0	1	17305	1393	49	4		4	WDR59	16	74942865	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10	2986336	74942865	15411888	55	1701											
TTC19	54902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	15930770	15930770	+	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	gatgaaatttctgtacaacaCatcagggaagagttggctga	14	10	11	6	0	2	3	1	2	1	1	2	5	2	4	0	2	2	3	0	2	4	3			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr17:15930770C>T	ENST00000261647.5	+	10	1546	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.H480H	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	359					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)		CTGTACAACACATCAGGGAAG	0.378																																						.											0													116	106	109					17																	15930770		2203	4300	6503	SO:0001819	synonymous_variant	54902			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.1077C>T	17.37:g.15930770C>T			A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP	ENST00000261647.5	37	CCDS11174.2																																																																																				0.378	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		T	15930770	C	T	15930770	2	4	22	1	0	0	0	0	0	0	0	1	16683	477	17	4		4	TTC19	17	15930770	Silent	SNP	C	TCGA-KL-8344-01A-11D-2310-10		15930770	65264440	56	1702											
GGNBP2	79893	broad.mit.edu	37	chr17	34942391	34942391	+	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	ggcatttgtaatcatgatgaAcacggtaggctcacattaag	13	11	10	7	1	2	2	2	2	0	0	2	2	2	2	0	3	1	4	0	3	4	4			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr17:34942391A>G	ENST00000304718.4	+	11	1804	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	496					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.E496E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATCATGATGAACACGGTAGGC	0.413																																						.											1	Substitution - coding silent(1)	endometrium(1)											172	175	174					17																	34942391		2203	4300	6503	SO:0001819	synonymous_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1488A>G	17.37:g.34942391A>G			B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	CCDS11314.1																																																																																				0.413	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		G	34942391	A	G	34942391	2	3	22	1	0	0	0	0	0	0	0	1	6359	40	2	2		2	GGNBP2	17	34942391	Silent	SNP	A	TCGA-KL-8344-01A-11D-2310-10	19011621	34942391	46252819	57	1703											
SYT4	6860	hgsc.bcm.edu;ucsc.edu	37	chr18	40850387	40850387	+	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	ttccagtgctctccaccagtTccttctgctgctgcacccaa	6	12	6	17	0	2	0	0	0	2	0	5	0	4	0	5	0	4	5	5	0	1	3			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr18:40850387T>C	ENST00000255224.3	-	4	1565	c.1197A>G	c.(1195-1197)ggA>ggG	p.G399G	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.G381G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	399					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCCACCAGTTCCTTCTGCTG	0.493																																					NSCLC(85;81 1419 2855 22820 35912)	.											0													156	155	156					18																	40850387		2203	4300	6503	SO:0001819	synonymous_variant	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1197A>G	18.37:g.40850387T>C			B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	CCDS11922.1																																																																																				0.493	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		C	40850387	T	C	40850387	2	2	22	1	0	0	0	0	0	0	0	1	15473	1770	62	4		4	SYT4	18	40850387	Silent	SNP	T	TCGA-KL-8344-01A-11D-2310-10		40850387	37226861	58	1704											
ZNF98	148198	mdanderson.org	37	chr19	22575313	22575313	+	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	gttaaaggcttttccacactCttcgcatttgtagggtttct	7	17	8	9	1	2	0	0	0	2	0	4	0	3	0	1	2	0	5	1	2	3	7			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:22575313C>G	ENST00000357774.5	-	4	845	c.724G>C	c.(724-726)Gag>Cag	p.E242Q		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	242					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(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTCCACACTCTTCGCATTTG	0.393																																						.											0													7	8	8					19																	22575313		1692	3884	5576	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.724G>C	19.37:g.22575313C>G	ENSP00000350418:p.Glu242Gln			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	1.943	-0.443228	0.04604	.	.	ENSG00000197360	ENST00000357774	T	0.36157	1.27	1.41	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22859	0.0552	N	0.20610	0.595	0.09310	N	1	B	0.29671	0.254	B	0.34991	0.193	T	0.20605	-1.0270	9	0.45353	T	0.12	.	7.4838	0.27421	0.0:0.4744:0.3911:0.1345	.	242	A6NK75	ZNF98_HUMAN	Q	242	ENSP00000350418:E242Q	ENSP00000350418:E242Q	E	-	1	0	ZNF98	22367153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.654000	0.01984	-2.230000	0.00719	-1.816000	0.00601	GAG		0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22575313	C	G	22575313	3	3	22	1	0	0	0	0	1	0	0	0	18200	922	32	5	998	5	ZNF98	19	22575313	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10		22575313	36553670	59	1705											
ZNF98	148198	broad.mit.edu;mdanderson.org	37	chr19	22575373	22575373	+	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	atgtgtagaaaggtttgaggCctcattataggctttcccac	10	13	10	8	0	1	2	1	1	0	1	2	2	2	2	2	3	0	3	2	3	4	5	rs201074450		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:22575373C>T	ENST00000357774.5	-	4	785	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGTTTGAGGCCTCATTATAG	0.383																																						.											0													12	13	13					19																	22575373		1871	4124	5995	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.664G>A	19.37:g.22575373C>T	ENSP00000350418:p.Ala222Thr			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	4.784	0.145770	0.09134	.	.	ENSG00000197360	ENST00000357774	T	0.33654	1.4	1.28	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	N	0.17674	0.51	0.09310	N	1	B	0.22541	0.071	B	0.25987	0.065	T	0.27262	-1.0079	9	0.39692	T	0.17	.	0.0814	0.00032	0.2369:0.2268:0.2367:0.2996	.	222	A6NK75	ZNF98_HUMAN	T	222	ENSP00000350418:A222T	ENSP00000350418:A222T	A	-	1	0	ZNF98	22367213	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.793000	0.04589	-0.223000	0.09943	0.305000	0.20034	GCC		0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		T	22575373	C	T	22575373	3	4	22	1	0	0	0	0	1	0	0	0	18200	739	26	3	1058	3	ZNF98	19	22575373	Missense_Mutation	SNP	C	TCGA-KL-8344-01A-11D-2310-10	60	22575373	36553610	60	1706											
FBXO17	115290	broad.mit.edu	37	chr19	39440795	39440795	+	Frame_Shift_Del	DEL	C	C	-																															tgcagcagccacacagtgggCccgtccactatgtcgcgcca																										TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:39440795delC	ENST00000292852.4	-	2	506	c.165delG	c.(163-165)gggfs	p.G55fs	FBXO17_ENST00000595329.1_Frame_Shift_Del_p.G55fs|SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	55	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					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)			ACACAGTGGGCCCGTCCACTA	0.711																																						.											0													7	6	6					19																	39440795		2045	4039	6084	SO:0001589	frameshift_variant	115290			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.165delG	19.37:g.39440795delC	ENSP00000292852:p.Gly55fs		Q96LQ4	Frame_Shift_Del	DEL	ENST00000292852.4	37	CCDS12526.1																																																																																				0.711	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		-	39440795	C	-	39440795	7	5	22	1	0	1	0	1	0	0	0	0	5730	726	26	0	691	0	FBXO17	19	39440795	Frame_Shift_Del	DEL	C	TCGA-KL-8344-01A-11D-2310-10	16865422	39440795	19688188	61	1707											
NOSIP	51070	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	50059875	50059875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggcacacacgtagcgcTcgctgcgggtgatgagcccc	7	6	13	15	5	1	2	1	2	0	0	2	2	1	2	2	2	3	4	2	2	1	1			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:50059875T>C	ENST00000596358.1	-	7	714	c.656A>G	c.(655-657)gAg>gGg	p.E219G	NOSIP_ENST00000339093.3_Missense_Mutation_p.E222G|NOSIP_ENST00000391853.3_Missense_Mutation_p.E219G	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	219					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)		CACGTAGCGCTCGCTGCGGGT	0.692																																						.											0													35	31	33					19																	50059875		2203	4299	6502	SO:0001583	missense	51070			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.656A>G	19.37:g.50059875T>C	ENSP00000470034:p.Glu219Gly		Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328939	0.60743	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.76186	-1.0	4.62	4.62	0.57501	.	0.054667	0.64402	D	0.000001	T	0.51736	0.1692	N	0.03268	-0.37	0.53688	D	0.999972	P	0.47545	0.897	B	0.42214	0.38	T	0.55315	-0.8160	10	0.21540	T	0.41	-51.4282	13.146	0.59461	0.0:0.0:0.0:1.0	.	219	Q9Y314	NOSIP_HUMAN	G	219	ENSP00000375726:E219G	ENSP00000343497:E219G	E	-	2	0	NOSIP	54751687	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.677000	0.74503	1.951000	0.56629	0.379000	0.24179	GAG		0.692	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			C	50059875	T	C	50059875	3	2	22	1	0	0	0	0	1	0	0	0	10545	1551	54	2	261	2	NOSIP	19	50059875	Missense_Mutation	SNP	T	TCGA-KL-8344-01A-11D-2310-10	10619080	50059875	9069108	62	1708											
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-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_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																																						.											0													15	12	13					19																	58385788		688	1564	2252	SO:0001583	missense	730051				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		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	22	1	0	0	0	0	1	0	0	0	18173	362	13	4	1601	4	ZNF814	19	58385788	Missense_Mutation	SNP	A	TCGA-KL-8344-01A-11D-2310-10	8325913	58385788	743195	63	1709											
TFAP2C	7022	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr20	55208518	55208518	+	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	tcagtccctggaagattgtcGctcctcagctctacgtctaa	8	12	8	13	2	4	1	2	0	2	1	7	2	6	2	2	1	2	2	2	1	3	3	rs146916115	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr20:55208518G>A	ENST00000201031.2	+	4	939	c.696G>A	c.(694-696)tcG>tcA	p.S232S	TFAP2C_ENST00000544508.1_Silent_p.S63S	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	232					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GAAGATTGTCGCTCCTCAGCT	0.537													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16452	0		0	False		,,,				2504	0					.											0								G		9,4397	15.5+/-35.6	0,9,2194	102	85	91		696	-1.4	1	20	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	TFAP2C	NM_003222.3		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		232/451	55208518	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.696G>A	20.37:g.55208518G>A			B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Silent	SNP	ENST00000201031.2	37	CCDS13454.1																																																																																				0.537	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		A	55208518	G	A	55208518	2	1	22	1	0	0	0	0	0	0	0	1	15786	1074	38	1		1	TFAP2C	20	55208518	Silent	SNP	G	TCGA-KL-8344-01A-11D-2310-10		55208518	7817002	64	1710											
FAM118A	55007	mdanderson.org	37	chr22	45723898	45723898	+	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	gctggaggcctttggccggcGgcagaacaagcccatggagt	8	6	16	11	2	0	1	0	0	0	1	0	3	0	3	3	6	2	2	3	6	2	1	rs62001863	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr22:45723898G>A	ENST00000216214.3	+	5	1310	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	FAM118A_ENST00000405673.1_Missense_Mutation_p.R159Q|FAM118A_ENST00000441876.2_Missense_Mutation_p.R159Q|FAM118A_ENST00000405548.3_5'Flank	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	159						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTTGGCCGGCGGCAGAACAAG	0.627																																						.											0													21	19	20					22																	45723898		2203	4300	6503	SO:0001583	missense	55007			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.476G>A	22.37:g.45723898G>A	ENSP00000216214:p.Arg159Gln		B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	CCDS14065.1	32	0.014652014652014652	0	0.0	8	0.022099447513812154	4	0.006993006993006993	20	0.026385224274406333	A	2.466	-0.322915	0.05350	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405673	T;T;T	0.39997	1.05;1.05;1.06	5.03	2.76	0.32466	.	0.061927	0.64402	N	0.000004	T	0.05686	0.0149	N	0.04959	-0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07790	-1.0754	10	0.09338	T	0.73	-1.1554	6.502	0.22174	0.7238:0.1301:0.1461:0.0	rs62001863	159	Q9NWS6	F118A_HUMAN	Q	159	ENSP00000216214:R159Q;ENSP00000395892:R159Q;ENSP00000385231:R159Q	ENSP00000216214:R159Q	R	+	2	0	FAM118A	44102562	1.000000	0.71417	0.991000	0.47740	0.252000	0.25951	5.600000	0.67599	0.241000	0.21283	-0.524000	0.04348	CGG		0.627	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		A	45723898	G	A	45723898	3	1	22	1	0	0	0	0	1	0	0	0	5411	1116	39	1	486	1	FAM118A	22	45723898	Missense_Mutation	SNP	G	TCGA-KL-8344-01A-11D-2310-10		45723898	5580668	65	1711											
AR	367	hgsc.bcm.edu	37	chrX	66765207	66765208	+	Missense_Mutation	DNP	GC	GC	AG																															cagcagcagcagcagcagcaGcagcagcagcagcagcagca																										TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chrX:66765207_66765208GC>AG	ENST00000374690.3	+	1	743_744	c.219_220GC>AG	c.(217-222)caGCag>caAGag	p.Q74E	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q74E|AR_ENST00000504326.1_Missense_Mutation_p.Q74E	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	74	Gln-rich.|Modulating.|Poly-Gln.		Missing.		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)	agcagcagcagcagcagcagca	0.668									Androgen Insensitivity Syndrome																													.											0																																										SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	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.66765207_66765208delinsAG	ENSP00000363822:p.Gln74Glu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	DNP	ENST00000374690.3	37	CCDS14387.1																																																																																				0.668	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		AG	66765208	GC	AG	66765207	3	1	22	1	0	0	0	0	1	0	0	0	836	962	34	4	221	4	AR	23	66765207	Missense_Mutation	DNP	GC	TCGA-KL-8344-01A-11D-2310-10		66765207	88505353	66	1712											
KIAA2013	90231	mdanderson.org	37	chr1	11985396	11985396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctgctttgcttttgAgcacctgggggttaatgggg	4	14	15	8	0	0	1	0	1	0	0	0	1	0	1	2	5	3	5	2	5	1	5			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:11985396A>G	ENST00000376572.3	-	1	1084	c.899T>C	c.(898-900)cTc>cCc	p.L300P	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	300						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)		TTTGCTTTTGAGCACCTGGGG	0.597																																						.											0													63	62	62					1																	11985396		2203	4300	6503	SO:0001583	missense	90231			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.899T>C	1.37:g.11985396A>G	ENSP00000365756:p.Leu300Pro		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	CCDS141.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542851	0.27563	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	3.9	3.9	0.45041	.	0.451826	0.20244	N	0.096238	T	0.53706	0.1813	L	0.40543	1.245	0.54753	D	0.999987	D;D	0.69078	0.997;0.97	P;P	0.62382	0.901;0.859	T	0.50110	-0.8866	9	0.27082	T	0.32	-7.7378	5.53	0.16978	0.8693:0.0:0.1307:0.0	.	300;300	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	P	300	.	ENSP00000365756:L300P	L	-	2	0	KIAA2013	11907983	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.737000	0.55060	1.767000	0.52121	0.421000	0.28195	CTC		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		G	11985396	A	G	11985396	3	3	23	1	0	0	0	0	1	0	0	0	8267	304	11	2	1017	2	KIAA2013	1	11985396	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10		11985396	237265225	1	1713											
KIF2C	11004	ucsc.edu	37	chr1	45228320	45228320	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatggaagagctcaaggAgatcatacaggtaggcagct	13	7	14	7	0	2	2	2	0	0	2	2	4	2	3	0	5	3	5	0	5	5	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:45228320A>G	ENST00000372224.4	+	19	2074	c.1961A>G	c.(1960-1962)gAg>gGg	p.E654G	RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.E541G|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.E613G|KIF2C_ENST00000372217.1_Missense_Mutation_p.E600G	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	654					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAGCTCAAGGAGATCATACAG	0.552																																						.											0													101	86	91					1																	45228320		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1961A>G	1.37:g.45228320A>G	ENSP00000361298:p.Glu654Gly		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589719	0.46214	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.75938	-0.96;-0.78;-0.97;-0.98	5.95	4.8	0.61643	.	0.237765	0.41097	D	0.000955	T	0.55449	0.1921	N	0.08118	0	0.46678	D	0.999159	B;B;B	0.20550	0.046;0.002;0.001	B;B;B	0.20184	0.028;0.003;0.001	T	0.49021	-0.8982	10	0.32370	T	0.25	.	13.2066	0.59800	0.867:0.133:0.0:0.0	.	613;600;654	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	G	654;613;541;600	ENSP00000361298:E654G;ENSP00000361292:E613G;ENSP00000361296:E541G;ENSP00000361291:E600G	ENSP00000361291:E600G	E	+	2	0	KIF2C	45000907	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	4.272000	0.58908	1.043000	0.40175	0.533000	0.62120	GAG		0.552	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		G	45228320	A	G	45228320	3	3	23	1	0	0	0	0	1	0	0	0	8299	304	11	2	2035	2	KIF2C	1	45228320	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	33242924	45228320	204022301	2	1714											
AGBL4	84871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	49100247	49100247	+	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	gagagggatccagccagtgaCgattcagatcaaatcccatc	13	7	10	11	1	2	3	2	1	0	2	5	6	4	4	3	1	1	0	3	1	1	1			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:49100247C>T	ENST00000371839.1	-	9	985	c.869G>A	c.(868-870)cGt>cAt	p.R290H	AGBL4_ENST00000334103.7_Missense_Mutation_p.R23H|AGBL4_ENST00000371838.1_Missense_Mutation_p.R290H	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	290					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)		CAGCCAGTGACGATTCAGATC	0.468																																						.											0													85	87	86					1																	49100247		1975	4155	6130	SO:0001583	missense	84871			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.869G>A	1.37:g.49100247C>T	ENSP00000360905:p.Arg290His		B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.194569|5.194569	0.94960|0.94960	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838|ENST00000416121	T;T;T|.	0.24151|.	1.87;1.87;1.87|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase M14, carboxypeptidase A (1);|.	0.193068|.	0.56097|.	D|.	0.000029|.	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.978;0.953;0.988;0.998;0.999|.	D|D	0.89102|0.89102	0.3490|0.3490	9|5	.|.	.|.	.|.	-18.2076|-18.2076	17.0797|17.0797	0.86595|0.86595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	105;302;23;135;290|.	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57|.	.;.;.;.;CBPC6_HUMAN|.	H|I	290;284;23;290|136	ENSP00000360905:R290H;ENSP00000335516:R23H;ENSP00000360904:R290H|.	.|.	R|V	-|-	2|1	0|0	AGBL4|AGBL4	48872834|48872834	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	6.832000|6.832000	0.75329|0.75329	2.636000|2.636000	0.89361|0.89361	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.468	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		T	49100247	C	T	49100247	3	4	23	1	0	0	0	0	1	0	0	0	377	536	19	1	666	1	AGBL4	1	49100247	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	3871927	49100247	200150374	3	1715											
LEPR	3953	ucsc.edu;bcgsc.ca	37	chr1	66083683	66083683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcagtgcttatcctttaaAcagcagttgtgtgattgttt	9	17	8	7	0	1	1	1	1	0	0	2	1	2	1	1	0	3	4	1	0	3	6			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:66083683A>G	ENST00000349533.6	+	16	2434	c.2249A>G	c.(2248-2250)aAc>aGc	p.N750S	LEPR_ENST00000371060.3_Missense_Mutation_p.N750S|LEPR_ENST00000371059.3_Missense_Mutation_p.N750S|LEPR_ENST00000344610.8_Missense_Mutation_p.N750S|LEPR_ENST00000371058.1_Missense_Mutation_p.N750S|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCTTTAAACAGCAGTTGT	0.294																																						.											0													99	94	96					1																	66083683		2203	4298	6501	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2249A>G	1.37:g.66083683A>G	ENSP00000330393:p.Asn750Ser		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.558082	0.45590	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.72	4.6	0.57074	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.042460	0.85682	N	0.000000	T	0.28962	0.0719	L	0.56280	1.765	0.80722	D	1	B;B;B	0.33528	0.292;0.416;0.204	B;B;B	0.37550	0.129;0.253;0.084	T	0.08351	-1.0726	10	0.33141	T	0.24	-16.7179	10.9072	0.47086	0.9255:0.0:0.0745:0.0	.	750;750;750	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	S	750	ENSP00000340884:N750S;ENSP00000330393:N750S;ENSP00000360099:N750S;ENSP00000360098:N750S;ENSP00000360097:N750S	ENSP00000340884:N750S	N	+	2	0	LEPR	65856271	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.914000	0.63348	1.006000	0.39211	0.528000	0.53228	AAC		0.294	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		G	66083683	A	G	66083683	3	3	23	1	0	0	0	0	1	0	0	0	8728	43	2	2	2303	2	LEPR	1	66083683	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	16983436	66083683	183166938	4	1716											
ZNHIT6	54680	broad.mit.edu	37	chr1	86167918	86167918	+	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	ttaagttaataccttgcctcCgggcacgatttttcataaag	11	14	7	9	2	1	0	1	0	0	0	2	1	2	0	3	1	2	2	3	1	5	7	rs542482220		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:86167918C>T	ENST00000370574.3	-	5	1074	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R275Q			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	314					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACCTTGCCTCCGGGCACGATT	0.294													C|||	1	0.000199681	8e-04	0	5008	,	,		18570	0		0	False		,,,				2504	0					.											0													65	65	65					1																	86167918		2202	4299	6501	SO:0001583	missense	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.941G>A	1.37:g.86167918C>T	ENSP00000359606:p.Arg314Gln		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641969	0.87859	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.46819	0.9;0.86	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.56031	0.1958	L	0.50333	1.59	0.47547	D	0.999456	D;D	0.89917	0.965;1.0	B;D	0.66497	0.343;0.944	T	0.52593	-0.8555	10	0.45353	T	0.12	-10.7858	19.0665	0.93113	0.0:1.0:0.0:0.0	.	275;314	B4DP13;Q9NWK9	.;BCD1_HUMAN	Q	275;314	ENSP00000414344:R275Q;ENSP00000359606:R314Q	ENSP00000359606:R314Q	R	-	2	0	ZNHIT6	85940506	1.000000	0.71417	0.973000	0.42090	0.874000	0.50279	5.529000	0.67135	2.666000	0.90696	0.555000	0.69702	CGG		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		T	86167918	C	T	86167918	3	4	23	1	0	0	0	0	1	0	0	0	18206	652	23	1	495	1	ZNHIT6	1	86167918	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	20084235	86167918	163082703	5	1717											
SPAG17	200162	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	118596629	118596629	+	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	atgtaagctggattaccttgAgagagccttctaaaatgaaa	15	11	9	6	0	1	3	0	2	1	1	1	5	1	4	2	1	3	2	2	1	5	5			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:118596629A>T	ENST00000336338.5	-	20	2875	c.2810T>A	c.(2809-2811)cTc>cAc	p.L937H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	937						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		gaTTACCTTGAGAGAGCCTTC	0.353																																						.											0													57	59	58					1																	118596629		2200	4297	6497	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2810T>A	1.37:g.118596629A>T	ENSP00000337804:p.Leu937His		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134317	0.77662	.	.	ENSG00000155761	ENST00000336338	T	0.49139	0.79	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.68952	2.095	0.33234	D	0.556326	D	0.89917	1.0	D	0.91635	0.999	T	0.64922	-0.6293	10	0.72032	D	0.01	.	12.1892	0.54261	1.0:0.0:0.0:0.0	.	937	Q6Q759	SPG17_HUMAN	H	937	ENSP00000337804:L937H	ENSP00000337804:L937H	L	-	2	0	SPAG17	118398152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.007000	0.57093	2.371000	0.80710	0.533000	0.62120	CTC		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118596629	A	T	118596629	3	4	23	1	0	0	0	0	1	0	0	0	14979	304	11	5	3977	5	SPAG17	1	118596629	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	32428711	118596629	130653992	6	1718											
FMO2	2327	ucsc.edu	37	chr1	171165803	171165803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacaactgtccttagtGtgagaaaatgtccagatttc	13	12	8	8	0	1	3	1	1	0	3	4	4	3	3	2	0	1	0	2	0	5	2	rs28369860	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:171165803G>T	ENST00000209929.7	+	4	495	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.V113L|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	113					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTCCTTAGTGTGAGAAAATG	0.453																																						.											0			GRCh37	CD033950	FMO2	D	rs28369860						106	106	106					1																	171165803		2093	4290	6383	SO:0001583	missense	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.337G>T	1.37:g.171165803G>T	ENSP00000209929:p.Val113Leu		Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163831	0.78226	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.59083	0.29;0.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.83774	2.66	0.43803	D	0.996352	P	0.52061	0.95	P	0.57283	0.817	T	0.72010	-0.4419	10	0.62326	D	0.03	-22.4683	12.6102	0.56546	0.0796:0.0:0.9204:0.0	.	113	Q99518	FMO2_HUMAN	L	113	ENSP00000209929:V113L;ENSP00000405905:V113L	ENSP00000209929:V113L	V	+	1	0	FMO2	169432427	0.996000	0.38824	0.998000	0.56505	0.873000	0.50193	2.307000	0.43682	2.690000	0.91761	0.655000	0.94253	GTG		0.453	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		T	171165803	G	T	171165803	3	4	23	1	0	0	0	0	1	0	0	0	5955	1377	48	5	347	5	FMO2	1	171165803	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	52569174	171165803	78084818	7	1719											
CFHR3	10878	hgsc.bcm.edu	37	chr1	196744041	196744041	+	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	tgttactaatcaatgtcattCtgaccttgtgggtttcctgt	7	18	8	8	0	3	1	2	1	1	0	4	1	4	1	2	1	1	2	2	1	3	5			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:196744041C>T	ENST00000367425.4	+	1	117	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	CFHR3_ENST00000471440.2_Silent_p.L9L|CFHR3_ENST00000391985.3_Silent_p.L9L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	9						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						CAATGTCATTCTGACCTTGTG	0.338																																						.											0													125	135	132					1																	196744041		1920	4138	6058	SO:0001819	synonymous_variant	10878			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.25C>T	1.37:g.196744041C>T			B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	CCDS30958.1																																																																																				0.338	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		T	196744041	C	T	196744041	2	4	23	1	0	0	0	0	0	0	0	1	3286	912	32	4		4	CFHR3	1	196744041	Silent	SNP	C	TCGA-KL-8345-01A-11D-2310-10	25578238	196744041	52506580	8	1720											
CTSE	1510	bcgsc.ca	37	chr1	206327526	206327526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttggaggctacgaccacTcccatttctctgggagcctg	6	13	10	12	1	1	0	0	0	1	0	3	3	2	2	3	3	2	1	3	3	1	4	rs145082936		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:206327526T>C	ENST00000358184.2	+	6	833	c.715T>C	c.(715-717)Tcc>Ccc	p.S239P	CTSE_ENST00000360218.2_Missense_Mutation_p.S239P|CTSE_ENST00000432969.2_Missense_Mutation_p.S164P|CTSE_ENST00000361052.3_Missense_Mutation_p.S244P|CTSE_ENST00000468617.1_3'UTR	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTACGACCACTCCCATTTCTC	0.507													t|||	1	0.000199681	8e-04	0	5008	,	,		19855	0		0	False		,,,				2504	0					.											0								T	PRO/SER,PRO/SER	2,4404	4.2+/-10.8	0,2,2201	168	170	169		715,715	2.7	0.8	1	dbSNP_134	169	0,8600		0,0,4300	no	missense,missense	CTSE	NM_001910.3,NM_148964.2	74,74	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	239/397,239/364	206327526	2,13004	2203	4300	6503	SO:0001583	missense	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.715T>C	1.37:g.206327526T>C	ENSP00000350911:p.Ser239Pro		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	t	17.09	3.300038	0.60195	4.54E-4	0.0	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.60040	0.23;0.23;0.23;0.22	5.18	2.71	0.32032	.	0.084158	0.51477	D	0.000089	T	0.72471	0.3464	M	0.90542	3.125	0.31809	N	0.627447	D;D;D	0.69078	0.997;0.997;0.967	P;P;P	0.58013	0.831;0.808;0.567	T	0.77024	-0.2741	10	0.56958	D	0.05	.	8.4064	0.32616	0.1299:0.0:0.136:0.7341	.	164;239;239	B4DNU8;P14091-2;P14091-1	.;.;.	P	239;244;239;164	ENSP00000350911:S239P;ENSP00000354337:S244P;ENSP00000353350:S239P;ENSP00000394607:S164P	ENSP00000350911:S239P	S	+	1	0	CTSE	204494149	0.850000	0.29656	0.828000	0.32881	0.949000	0.60115	1.501000	0.35693	0.972000	0.38314	-0.313000	0.08912	TCC		0.507	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		C	206327526	T	C	206327526	3	2	23	1	0	0	0	0	1	0	0	0	4033	1551	54	2	737	2	CTSE	1	206327526	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10	9583485	206327526	42923095	9	1721											
KIDINS220	57498	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	8871660	8871660	+	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	agcttcaaatctgtctggaaGaggcttgacctttcggaaga	11	11	11	8	1	3	3	1	1	2	2	4	5	3	5	1	3	1	2	1	3	3	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:8871660G>A	ENST00000256707.3	-	30	4687	c.4506C>T	c.(4504-4506)ctC>ctT	p.L1502L	KIDINS220_ENST00000473731.1_Silent_p.L1483L|KIDINS220_ENST00000427284.1_Silent_p.L1483L|KIDINS220_ENST00000418530.1_Silent_p.L1403L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1502					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)					CTGTCTGGAAGAGGCTTGACC	0.468																																						.											0													52	53	53					2																	8871660		1887	4107	5994	SO:0001819	synonymous_variant	57498			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.4506C>T	2.37:g.8871660G>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		A	8871660	G	A	8871660	2	1	23	1	0	0	0	0	0	0	0	1	8271	929	33	4		4	KIDINS220	2	8871660	Silent	SNP	G	TCGA-KL-8345-01A-11D-2310-10		8871660	234327713	10	1722											
EHBP1	23301	broad.mit.edu	37	chr2	63223821	63223821	+	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	gtatgtagtaggagaattggCagcactagagaatgagcaaa	16	8	13	4	0	0	3	0	1	0	2	0	5	0	3	0	2	2	6	0	2	7	5			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:63223821C>A	ENST00000263991.5	+	21	3718	c.3236C>A	c.(3235-3237)gCa>gAa	p.A1079E	EHBP1_ENST00000431489.1_Missense_Mutation_p.A1008E|EHBP1_ENST00000354487.3_Missense_Mutation_p.A1044E|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1044E|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1008E	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1079						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GGAGAATTGGCAGCACTAGAG	0.448																																						.											0													125	119	121					2																	63223821		2203	4300	6503	SO:0001583	missense	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3236C>A	2.37:g.63223821C>A	ENSP00000263991:p.Ala1079Glu		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173753	0.57692	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.19	5.19	0.71726	Domain of unknown function DUF3585 (1);	0.071022	0.56097	D	0.000032	T	0.36799	0.0980	N	0.10685	0.025	0.58432	D	0.999994	D;B;D	0.89917	1.0;0.167;1.0	D;B;D	0.91635	0.998;0.221;0.999	T	0.10497	-1.0627	10	0.02654	T	1	.	18.7221	0.91698	0.0:1.0:0.0:0.0	.	1044;1008;1079	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	E	1008;1008;1079;1044;1044;50	ENSP00000384143:A1008E;ENSP00000403783:A1008E;ENSP00000263991:A1079E;ENSP00000346482:A1044E;ENSP00000385524:A1044E	ENSP00000263991:A1079E	A	+	2	0	EHBP1	63077325	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.438000	0.82558	0.650000	0.86243	GCA		0.448	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		A	63223821	C	A	63223821	3	1	23	1	0	0	0	0	1	0	0	0	4975	710	25	5	3314	5	EHBP1	2	63223821	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	54352161	63223821	179975552	11	1723											
IL1F7	27178	broad.mit.edu	37	chr2	113671391	113671392	+	Frame_Shift_Ins	INS	-	-	C																															cggctggaagccccctggaaINSccaggcccaagcctccccac																										TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:113671391_113671392insC	ENST00000263326.3	+	2	147_148	c.105_106insC	c.(106-108)ccafs	p.P36fs	IL37_ENST00000352179.3_Intron|IL37_ENST00000353225.3_Frame_Shift_Ins_p.P36fs|IL37_ENST00000349806.3_Intron|IL37_ENST00000311328.2_5'Flank	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	36					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GCCCCCTGGAACCAGGCCCAAG	0.55																																						.											0																																										SO:0001589	frameshift_variant	27178			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.107dupC	2.37:g.113671393_113671393dupC	ENSP00000263326:p.Pro36fs		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Frame_Shift_Ins	INS	ENST00000263326.3	37	CCDS2103.1																																																																																				0.55	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		C	113671392	-	C	113671391	7	5	23	1	0	1	1	0	0	0	0	0	7655	40	2	0	111	0	IL1F7	2	113671391	Frame_Shift_Ins	INS	-	TCGA-KL-8345-01A-11D-2310-10	50447570	113671391	129527982	12	1724											
LRP1B	53353	broad.mit.edu	37	chr2	141819781	141819781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatccttgttcggttcaTcccatccatgtcacatctct	8	16	4	13	1	3	0	2	0	1	0	8	0	6	0	3	1	0	2	3	1	2	4			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:141819781T>C	ENST00000389484.3	-	8	2046	c.1075A>G	c.(1075-1077)Atg>Gtg	p.M359V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	359					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)		GTTCGGTTCATCCCATCCATG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	.											0													152	133	140					2																	141819781		2203	4300	6503	SO:0001583	missense	53353			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.1075A>G	2.37:g.141819781T>C	ENSP00000374135:p.Met359Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	9.638	1.138221	0.21123	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90955	-2.76	5.63	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.114080	0.64402	D	0.000015	T	0.82185	0.4982	N	0.12182	0.205	0.25313	N	0.989186	B	0.06786	0.001	B	0.04013	0.001	T	0.73678	-0.3907	10	0.72032	D	0.01	.	13.0624	0.59014	0.0:0.0:0.1345:0.8655	.	359	Q9NZR2	LRP1B_HUMAN	V	359;297	ENSP00000374135:M359V	ENSP00000374135:M359V	M	-	1	0	LRP1B	141536251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.772000	0.38552	1.039000	0.40074	0.533000	0.62120	ATG		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141819781	T	C	141819781	3	2	23	1	0	0	0	0	1	0	0	0	8955	1435	50	4	13060	4	LRP1B	2	141819781	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10	28148390	141819781	101379592	13	1725											
TLK1	9874	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	171871451	171871451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttctgcctggatttctGcctcttcctgaaaatgaaga	10	13	8	10	0	3	3	0	2	3	1	4	4	4	4	3	1	2	1	3	1	4	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:171871451G>T	ENST00000431350.2	-	13	1648	c.1244C>A	c.(1243-1245)gCa>gAa	p.A415E	TLK1_ENST00000521943.1_Missense_Mutation_p.A367E|TLK1_ENST00000360843.3_Missense_Mutation_p.A436E|TLK1_ENST00000442919.2_Missense_Mutation_p.A367E|TLK1_ENST00000434911.2_Missense_Mutation_p.A319E			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	415					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						CTGGATTTCTGCCTCTTCCTG	0.348																																						.											0													102	104	103					2																	171871451		2203	4300	6503	SO:0001583	missense	9874			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.1244C>A	2.37:g.171871451G>T	ENSP00000411099:p.Ala415Glu		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141316	0.57044	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.64438	-0.09;-0.1;-0.1;-0.09;-0.09	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.39514	1.22	0.80722	D	1	B;B;D	0.76494	0.114;0.389;0.999	B;B;D	0.69479	0.059;0.202;0.964	T	0.70597	-0.4828	10	0.40728	T	0.16	.	19.6128	0.95616	0.0:0.0:1.0:0.0	.	319;436;415	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	E	367;415;436;367;319	ENSP00000402165:A367E;ENSP00000411099:A415E;ENSP00000354089:A436E;ENSP00000428113:A367E;ENSP00000409222:A319E	ENSP00000354089:A436E	A	-	2	0	TLK1	171579697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.635000	0.89317	0.655000	0.94253	GCA		0.348	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		T	171871451	G	T	171871451	3	4	23	1	0	0	0	0	1	0	0	0	15940	1319	46	5	1092	5	TLK1	2	171871451	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	30051670	171871451	71327922	14	1726											
TTN	7273	broad.mit.edu	37	chr2	179480474	179480474	+	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	tactcttttccttgaacaagAtcaggaactgtgaattctag	12	14	7	8	0	3	3	1	2	2	1	4	4	4	4	1	1	3	0	1	1	6	6			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:179480474A>G	ENST00000591111.1	-	208	43655	c.43431T>C	c.(43429-43431)gaT>gaC	p.D14477D	TTN_ENST00000359218.5_Silent_p.D7178D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.D7053D|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.D7245D|TTN_ENST00000589042.1_Silent_p.D16118D|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.D13550D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14477	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)			CTTGAACAAGATCAGGAACTG	0.378																																						.											0													101	94	96					2																	179480474		1854	4096	5950	SO:0001819	synonymous_variant	7273			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.43431T>C	2.37:g.179480474A>G			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																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179480474	A	G	179480474	2	3	23	1	0	0	0	0	0	0	0	1	16732	330	12	4		4	TTN	2	179480474	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	7609023	179480474	63718899	15	1727											
IGFBP5	3488	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	217559222	217559222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccccgcggccgtgcagcaGggcgtgcagcggcttctcct	5	6	14	16	5	1	0	0	0	1	0	2	0	1	0	4	3	5	4	4	3	1	1			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:217559222G>T	ENST00000233813.4	-	1	1026	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	93	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGCAGCAGGGCGTGCAGC	0.701																																						.											0													7	7	7					2																	217559222		1863	3711	5574	SO:0001583	missense	3488				CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.277C>A	2.37:g.217559222G>T	ENSP00000233813:p.Leu93Met		Q5U0A3	Missense_Mutation	SNP	ENST00000233813.4	37	CCDS2405.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261739	0.59431	.	.	ENSG00000115461	ENST00000233813;ENST00000449583	T;T	0.67171	0.12;-0.25	4.69	3.79	0.43588	Insulin-like growth factor-binding protein, IGFBP (2);Growth factor, receptor (1);	0.706652	0.14107	N	0.340990	T	0.65801	0.2726	M	0.82823	2.61	0.52501	D	0.999958	P	0.34615	0.459	B	0.22601	0.04	T	0.67891	-0.5553	10	0.72032	D	0.01	-26.447	11.8083	0.52169	0.0:0.0:0.8229:0.1771	.	93	P24593	IBP5_HUMAN	M	93	ENSP00000233813:L93M;ENSP00000413474:L93M	ENSP00000233813:L93M	L	-	1	2	IGFBP5	217267467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.445000	0.66594	0.931000	0.37242	0.555000	0.69702	CTG		0.701	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		T	217559222	G	T	217559222	3	4	23	1	0	0	0	0	1	0	0	0	7582	991	35	5	557	5	IGFBP5	2	217559222	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	38078748	217559222	25640151	16	1728											
TTLL4	9654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	219610500	219610500	+	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	ttgtcaagcagaccattggaCggtcccacttcaaaatcagc	12	9	8	12	1	3	1	3	0	0	1	4	2	4	2	2	2	2	1	2	2	3	3	rs370491335		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:219610500C>T	ENST00000392102.1	+	7	2213	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TTLL4_ENST00000442769.1_Missense_Mutation_p.R625W|TTLL4_ENST00000258398.4_Missense_Mutation_p.R625W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R460W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	625	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)		GACCATTGGACGGTCCCACTT	0.502																																					GBM(172;1818 2053 15407 20943 49753)	.											0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67	61	63		1873	4.6	1	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTLL4	NM_014640.4	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	625/1200	219610500	2,13004	2203	4300	6503	SO:0001583	missense	9654				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.1873C>T	2.37:g.219610500C>T	ENSP00000375951:p.Arg625Trp		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153584	0.57259	2.27E-4	1.16E-4	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05513	3.68;3.93;3.43;3.93	5.5	4.62	0.57501	.	0.249544	0.27402	N	0.019536	T	0.19287	0.0463	L	0.50333	1.59	0.51482	D	0.999928	D;D;P	0.89917	0.983;1.0;0.956	P;D;B	0.97110	0.492;1.0;0.256	T	0.00316	-1.1823	10	0.66056	D	0.02	.	13.2787	0.60202	0.3031:0.6969:0.0:0.0	.	460;625;625	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	W	460;625;625;625	ENSP00000393332:R460W;ENSP00000375951:R625W;ENSP00000396555:R625W;ENSP00000258398:R625W	ENSP00000258398:R625W	R	+	1	2	TTLL4	219318744	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.280000	0.43443	1.294000	0.44707	0.655000	0.94253	CGG		0.502	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		T	219610500	C	T	219610500	3	4	23	1	0	0	0	0	1	0	0	0	16726	527	19	1	1891	1	TTLL4	2	219610500	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	2051278	219610500	23588873	17	1729											
MAGI1	9223	mdanderson.org	37	chr3	65425591	65425591	+	Silent	SNP	T	T	C																															tgctgctgctgctgctgctgTtgctgctgctgttgctgctg																								rs374381483|rs79701778		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:65425591T>C	ENST00000497477.2	-	9	1232	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	MAGI1_ENST00000402939.2_Silent_p.Q411Q|MAGI1_ENST00000330909.8_Silent_p.Q411Q|MAGI1_ENST00000483466.1_Silent_p.Q411Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	411	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)		gctgctgctgttgctgctgct	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													61	60	61					3																	65425591		2191	4267	6458	SO:0001819	synonymous_variant	9223			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.1233A>G	3.37:g.65425591T>C		1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	T	1.469	-0.560380	0.03939	.	.	ENSG00000151276	ENST00000460329	.	.	.	2.82	-5.65	0.02459	.	.	.	.	.	T	0.27313	0.0670	.	.	.	0.21445	N	0.999683	.	.	.	.	.	.	T	0.31558	-0.9939	4	.	.	.	.	7.6202	0.28181	0.0:0.2714:0.1222:0.6064	.	.	.	.	S	292	.	.	N	-	2	0	MAGI1	65400631	0.067000	0.21026	0.000000	0.03702	0.001000	0.01503	-1.642000	0.02006	-1.408000	0.02040	-1.740000	0.00687	AAC		0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		C	65425591	T	C	65425591	2	2	23	1	0	0	0	0	0	0	0	1	9190	1722	60	2		2	MAGI1	3	65425591	Silent	SNP	T	TCGA-KL-8345-01A-11D-2310-10		65425591	132596839	18	1730	48	2									
MAGI1	9223	mdanderson.org	37	chr3	65425594	65425594	+	Silent	SNP	C	C	T																															tgctgctgctgctgctgttgCtgctgctgttgctgctgctg																								rs552500635	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:65425594C>T	ENST00000497477.2	-	9	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	MAGI1_ENST00000402939.2_Silent_p.Q410Q|MAGI1_ENST00000330909.8_Silent_p.Q410Q|MAGI1_ENST00000483466.1_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					.											0													65	61	62					3																	65425594		2199	4283	6482	SO:0001819	synonymous_variant	9223			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		1084	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	23	1	0	0	0	0	0	0	0	1	9190	796	28	4		4	MAGI1	3	65425594	Silent	SNP	C	TCGA-KL-8345-01A-11D-2310-10	3	65425594	132596836	19	1731	48	2									
GRAMD1C	54762	hgsc.bcm.edu;mdanderson.org	37	chr3	113623086	113623086	+	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	tcaattagtcgggtttcagaAacagagtcattcgatggaaa	14	11	10	6	2	3	2	3	0	0	2	5	4	3	3	0	2	1	1	0	2	4	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:113623086A>G	ENST00000358160.4	+	8	1248	c.756A>G	c.(754-756)gaA>gaG	p.E252E	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Silent_p.E47E|GRAMD1C_ENST00000472026.1_Silent_p.E85E	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	252						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GGGTTTCAGAAACAGAGTCAT	0.363																																						.											0													79	86	83					3																	113623086		2203	4300	6503	SO:0001819	synonymous_variant	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.756A>G	3.37:g.113623086A>G			A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.363	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		G	113623086	A	G	113623086	2	3	23	1	0	0	0	0	0	0	0	1	6749	11	1	4		4	GRAMD1C	3	113623086	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	48197492	113623086	84399344	20	1732											
RGS12	6002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	3417849	3417849	+	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	tcaaggagcagcagctgcagGtaaccgcaggctgtgggagc	10	5	16	10	1	1	0	1	0	0	0	1	2	1	2	1	4	6	7	1	4	2	1			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:3417849G>A	ENST00000344733.5	+	7	3331		c.e7+1		RGS12_ENST00000508158.1_Splice_Site|RGS12_ENST00000336727.3_Splice_Site|RGS12_ENST00000306648.7_Splice_Site|RGS12_ENST00000382788.3_Splice_Site|RGS12_ENST00000338806.4_Splice_Site|RGS12_ENST00000538395.1_Splice_Site|RGS12_ENST00000543385.1_Splice_Site	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						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)		GCAGCTGCAGGTAACCGCAGG	0.617																																						.											0													47	43	44					4																	3417849		2203	4300	6503	SO:0001630	splice_region_variant	6002			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.2427+1G>A	4.37:g.3417849G>A			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Splice_Site	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076244	0.76415	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1317	0.86728	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS12	3387647	1.000000	0.71417	0.992000	0.48379	0.791000	0.44710	9.444000	0.97578	2.356000	0.79943	0.650000	0.86243	.		0.617	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	Intron	A	3417849	G	A	3417849	5	1	23	1	0	0	0	0	0	0	1	0	13295	1275	44	3	2508	3	RGS12	4	3417849	Splice_Site	SNP	G	TCGA-KL-8345-01A-11D-2310-10		3417849	187736427	21	1733											
EXOC1	55763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	56737009	56737009	+	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	atcagatctctgaaagcaacCacctaattcatcttagtaac	15	11	4	11	0	4	2	2	1	2	1	5	2	4	2	2	0	3	2	2	0	5	4			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:56737009C>T	ENST00000381295.2	+	6	1117	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	EXOC1_ENST00000346134.7_Missense_Mutation_p.H257Y|EXOC1_ENST00000349598.6_Missense_Mutation_p.H257Y	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	257					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGAAAGCAACCACCTAATTCA	0.343																																						.											0													97	101	100					4																	56737009		2203	4300	6503	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.769C>T	4.37:g.56737009C>T	ENSP00000370695:p.His257Tyr		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	5.687	0.311354	0.10789	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.85	5.85	0.93711	.	0.146296	0.64402	D	0.000007	T	0.52354	0.1729	L	0.36672	1.1	0.43863	D	0.996465	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42865	-0.9426	9	0.23302	T	0.38	.	15.3266	0.74168	0.0:0.9314:0.0:0.0686	.	257;257	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Y	257	.	ENSP00000326514:H257Y	H	+	1	0	EXOC1	56431766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.760000	0.68793	2.768000	0.95171	0.655000	0.94253	CAC		0.343	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		T	56737009	C	T	56737009	3	4	23	1	0	0	0	0	1	0	0	0	5301	594	21	4	787	4	EXOC1	4	56737009	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	53319160	56737009	134417267	22	1734											
RASGEF1B	153020	ucsc.edu	37	chr4	82368697	82368697	+	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	tccttctgcacgaacgcctgAacaaattcttctggcccaat	10	11	6	14	2	3	1	0	1	3	0	4	2	4	1	3	1	3	1	3	1	4	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:82368697A>G	ENST00000264400.2	-	6	841	c.690T>C	c.(688-690)gtT>gtC	p.V230V	RASGEF1B_ENST00000509081.1_Silent_p.V229V|RASGEF1B_ENST00000335927.7_Silent_p.V188V	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	230	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						CGAACGCCTGAACAAATTCTT	0.403																																						.											0													81	77	78					4																	82368697		2203	4300	6503	SO:0001819	synonymous_variant	153020			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.690T>C	4.37:g.82368697A>G			Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	CCDS34022.1																																																																																				0.403	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		G	82368697	A	G	82368697	2	3	23	1	0	0	0	0	0	0	0	1	13070	233	9	4		4	RASGEF1B	4	82368697	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	25631688	82368697	108785579	23	1735											
DSPP	1834	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	88535754	88535754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagcagtgacagcaacaGcagtgacagtagtgacaaca	17	4	11	9	0	0	4	0	3	0	1	0	4	0	4	0	0	5	4	0	0	3	1			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:88535754G>T	ENST00000282478.7	+	4	1973	c.1940G>T	c.(1939-1941)aGc>aTc	p.S647I	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.S647I			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	647	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)		gacagcaacagcagtgacagt	0.488																																						.											0													121	139	133					4																	88535754		1777	3262	5039	SO:0001583	missense	1834			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.1940G>T	4.37:g.88535754G>T	ENSP00000282478:p.Ser647Ile		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	6.014	0.371022	0.11409	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.89552	-2.53;-2.53	3.49	3.49	0.39957	.	.	.	.	.	D	0.90710	0.7085	L	0.43923	1.385	0.32597	N	0.526374	D	0.62365	0.991	P	0.62184	0.899	D	0.91798	0.5449	9	0.87932	D	0	.	12.8203	0.57690	0.0:0.0:1.0:0.0	.	647	Q9NZW4	DSPP_HUMAN	I	647	ENSP00000382213:S647I;ENSP00000282478:S647I	ENSP00000282478:S647I	S	+	2	0	DSPP	88754778	0.941000	0.31946	0.989000	0.46669	0.035000	0.12851	1.382000	0.34374	1.656000	0.50722	0.174000	0.16983	AGC		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88535754	G	T	88535754	3	4	23	1	0	0	0	0	1	0	0	0	4782	971	34	5	1954	5	DSPP	4	88535754	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	6167057	88535754	102618522	24	1736											
ANK2	287	hgsc.bcm.edu;ucsc.edu	37	chr4	114276401	114276401	+	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	gaaagcctaaagaatgagggGgtagccggctctccgtgtgg	10	7	16	8	2	1	2	0	1	1	1	2	3	1	2	3	4	2	2	3	4	5	2			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:114276401G>A	ENST00000357077.4	+	38	6680	c.6627G>A	c.(6625-6627)ggG>ggA	p.G2209G	ANK2_ENST00000264366.6_Silent_p.G2176G|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2209					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)		AGAATGAGGGGGTAGCCGGCT	0.502																																						.											0													77	79	78					4																	114276401		2203	4300	6503	SO:0001819	synonymous_variant	287			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.6627G>A	4.37:g.114276401G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114276401	G	A	114276401	2	1	23	1	0	0	0	0	0	0	0	1	621	1219	43	3		3	ANK2	4	114276401	Silent	SNP	G	TCGA-KL-8345-01A-11D-2310-10	25740647	114276401	76877875	25	1737											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	126389910	126389910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtggtacatataagcTcaccaccatgaagaaggtgt	14	8	11	8	0	1	2	1	1	0	1	1	2	1	2	2	3	2	3	2	3	5	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:126389910T>C	ENST00000394329.3	+	11	12156	c.12143T>C	c.(12142-12144)cTc>cCc	p.L4048P	FAT4_ENST00000335110.5_Missense_Mutation_p.L2311P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4048	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						ACATATAAGCTCACCACCATG	0.408																																						.											0													98	98	98					4																	126389910		2203	4300	6503	SO:0001583	missense	79633			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.12143T>C	4.37:g.126389910T>C	ENSP00000377862:p.Leu4048Pro		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155915	0.78114	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.81821	-1.54;-1.54	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.30830	U	0.008797	D	0.85062	0.5611	L	0.35854	1.095	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	0.86800	0.1991	10	0.72032	D	0.01	.	15.0242	0.71656	0.0:0.0:0.0:1.0	.	2311;4048;4048	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	P	4048;2311	ENSP00000377862:L4048P;ENSP00000335169:L2311P	ENSP00000335169:L2311P	L	+	2	0	FAT4	126609360	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.538000	0.82048	1.947000	0.56498	0.477000	0.44152	CTC		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126389910	T	C	126389910	3	2	23	1	0	0	0	0	1	0	0	0	5692	1551	54	2	12185	2	FAT4	4	126389910	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10	12113509	126389910	64764366	26	1738											
PALLD	23022	broad.mit.edu	37	chr4	169837136	169837136	+	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	ttcttgcaggctcctggagaTctgactgttcaagaaggaaa	11	11	11	8	0	3	3	1	1	2	2	4	5	4	4	1	3	1	3	1	3	3	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:169837136T>C	ENST00000505667.1	+	17	2981	c.2808T>C	c.(2806-2808)gaT>gaC	p.D936D	PALLD_ENST00000507735.1_Silent_p.D432D|PALLD_ENST00000512127.1_Silent_p.D537D|PALLD_ENST00000261509.6_Silent_p.D919D|PALLD_ENST00000335742.7_Silent_p.D761D|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1143					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)		CTCCTGGAGATCTGACTGTTC	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	.											0													97	101	100					4																	169837136		2203	4300	6503	SO:0001819	synonymous_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	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.2808T>C	4.37:g.169837136T>C			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																				0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		C	169837136	T	C	169837136	2	2	23	1	0	0	0	0	0	0	0	1	11407	1432	50	4		4	PALLD	4	169837136	Silent	SNP	T	TCGA-KL-8345-01A-11D-2310-10	43447226	169837136	21317140	27	1739											
HMGCS1	3157	broad.mit.edu	37	chr5	43297257	43297257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggcatgttgcatatgtgTcccacgaagccctattagaa	12	11	9	9	1	0	1	0	0	0	1	1	2	1	1	2	1	2	3	2	1	6	5			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:43297257T>C	ENST00000325110.6	-	5	792	c.586A>G	c.(586-588)Aca>Gca	p.T196A	HMGCS1_ENST00000433297.2_Missense_Mutation_p.T196A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	196					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGCATATGTGTCCCACGAAGC	0.368																																						.											0													116	118	118					5																	43297257		2203	4300	6503	SO:0001583	missense	3157				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"	142940	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.586A>G	5.37:g.43297257T>C	ENSP00000322706:p.Thr196Ala		B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211012	0.95069	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.77750	-1.12;-1.12	5.96	5.96	0.96718	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.72624	2.21	0.80722	D	1	P	0.43938	0.822	P	0.45232	0.474	D	0.83710	0.0187	10	0.87932	D	0	-19.8309	16.4381	0.83884	0.0:0.0:0.0:1.0	.	196	Q01581	HMCS1_HUMAN	A	196;196;185	ENSP00000322706:T196A;ENSP00000399402:T196A	ENSP00000322706:T196A	T	-	1	0	HMGCS1	43333014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.698000	0.84413	2.280000	0.76307	0.533000	0.62120	ACA		0.368	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			C	43297257	T	C	43297257	3	2	23	1	0	0	0	0	1	0	0	0	7232	1667	58	2	1004	2	HMGCS1	5	43297257	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10		43297257	137618003	28	1740											
SH3TC2	79628	broad.mit.edu	37	chr5	148407015	148407015	+	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	tacactttggaaaggatgagAcacagggccctctgggtgct	10	9	13	9	0	1	1	0	1	1	1	1	4	1	3	1	4	2	1	1	4	2	2			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:148407015A>G	ENST00000515425.1	-	11	2381	c.2280T>C	c.(2278-2280)tgT>tgC	p.C760C	SH3TC2_ENST00000512049.1_Silent_p.C753C|SH3TC2_ENST00000394358.2_Silent_p.C645C|SH3TC2_ENST00000538184.1_Silent_p.C307C|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	760					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGGATGAGACACAGGGCCC	0.617																																						.											0													53	59	57					5																	148407015		2203	4300	6503	SO:0001819	synonymous_variant	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2280T>C	5.37:g.148407015A>G			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	CCDS4293.1																																																																																				0.617	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		G	148407015	A	G	148407015	2	3	23	1	0	0	0	0	0	0	0	1	14262	273	10	2		2	SH3TC2	5	148407015	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	105109758	148407015	32508245	29	1741											
GABBR1	2550	ucsc.edu	37	chr6	29580384	29580384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgctggcatcaaacaccAcatggccctgagggaaggaa	13	4	12	12	1	1	1	1	1	0	0	1	3	1	3	3	4	2	2	3	4	3	0			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr6:29580384A>G	ENST00000377034.4	-	13	1909	c.1574T>C	c.(1573-1575)gTg>gCg	p.V525A	GABBR1_ENST00000376977.3_Missense_Mutation_p.V525A|GABBR1_ENST00000377012.4_Missense_Mutation_p.V408A|GABBR1_ENST00000377016.4_Missense_Mutation_p.V463A|GABBR1_ENST00000355973.3_Missense_Mutation_p.V408A	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	525					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATCAAACACCACATGGCCCTG	0.532																																						.											0													90	79	83					6																	29580384		2203	4300	6503	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1574T>C	6.37:g.29580384A>G	ENSP00000366233:p.Val525Ala		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592099	0.86953	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.86	5.86	0.93980	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.83275	0.99;0.994;0.996;0.994	D	0.91670	0.5349	10	0.87932	D	0	-6.9297	14.1969	0.65677	1.0:0.0:0.0:0.0	.	525;463;525;408	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	A	408;525;463;408;525	ENSP00000348248:V408A;ENSP00000366176:V525A;ENSP00000366215:V463A;ENSP00000366211:V408A;ENSP00000366233:V525A	ENSP00000348248:V408A	V	-	2	0	GABBR1	29688363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.901000	0.92560	2.241000	0.73720	0.482000	0.46254	GTG		0.532	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			G	29580384	A	G	29580384	3	3	23	1	0	0	0	0	1	0	0	0	6155	159	6	2	1355	2	GABBR1	6	29580384	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10		29580384	141534683	30	1742											
FAM26F	441168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	116784510	116784510	+	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	gatttttacatctgtcacccGatgcctatctccagttagtt	8	16	6	11	1	3	0	1	0	2	0	4	2	3	0	3	0	2	2	3	0	3	6			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr6:116784510G>A	ENST00000368605.1	+	3	685	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.R25Q	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	197					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TCTGTCACCCGATGCCTATCT	0.378																																						.											0													168	165	166					6																	116784510		2203	4300	6503	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.590G>A	6.37:g.116784510G>A	ENSP00000357594:p.Arg197Gln		B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160601	0.38119	.	.	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	T;T;T	0.18960	2.18;2.18;2.18	5.11	0.291	0.15732	.	0.313768	0.24436	N	0.038546	T	0.06917	0.0176	M	0.63208	1.945	0.19300	N	0.99997	P	0.34800	0.469	B	0.26416	0.069	T	0.21586	-1.0241	10	0.36615	T	0.2	-0.8065	9.9369	0.41556	0.3389:0.0:0.6611:0.0	.	197	Q5R3K3	FA26F_HUMAN	Q	25;197;40	ENSP00000357595:R25Q;ENSP00000357594:R197Q;ENSP00000357593:R40Q	ENSP00000357593:R40Q	R	+	2	0	FAM26F	116891203	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.122000	0.10627	0.078000	0.16900	-0.136000	0.14681	CGA		0.378	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		A	116784510	G	A	116784510	3	1	23	1	0	0	0	0	1	0	0	0	5551	1058	37	1	596	1	FAM26F	6	116784510	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	87204126	116784510	54330557	31	1743											
LRCH4	4034	broad.mit.edu	37	chr7	100174729	100174729	+	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	ttgtgcatggcttgagtggaCacggcggcggcccctcccac	5	8	14	14	3	0	1	0	1	0	0	1	2	1	2	3	5	1	2	3	5	0	2			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:100174729C>A	ENST00000310300.6	-	12	1396	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	448					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)					CTTGAGTGGACACGGCGGCGG	0.602																																						.											0													87	84	85					7																	100174729		2203	4300	6503	SO:0001819	synonymous_variant	4034			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.1344G>T	7.37:g.100174729C>A			A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	CCDS34706.1																																																																																				0.602	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		A	100174729	C	A	100174729	2	1	23	1	0	0	0	0	0	0	0	1	8935	465	17	5		5	LRCH4	7	100174729	Silent	SNP	C	TCGA-KL-8345-01A-11D-2310-10		100174729	58963934	32	1744											
PODXL	5420	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	131189141	131189141	+	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	cagagggacgatccagctgtCccccagctccccgttgaggc	7	6	12	16	2	0	2	0	1	0	1	3	4	3	3	5	2	2	3	5	2	0	1			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:131189141C>A	ENST00000378555.3	-	9	1853	c.1606G>T	c.(1606-1608)Gac>Tac	p.D536Y	PODXL_ENST00000537928.1_Missense_Mutation_p.D504Y|PODXL_ENST00000322985.9_Missense_Mutation_p.D504Y|PODXL_ENST00000541194.1_Missense_Mutation_p.D538Y			O00592	PODXL_HUMAN	podocalyxin-like	536					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATCCAGCTGTCCCCCAGCTCC	0.577																																						.											0													158	132	141					7																	131189141		2203	4300	6503	SO:0001583	missense	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1606G>T	7.37:g.131189141C>A	ENSP00000367817:p.Asp536Tyr		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930812	0.92389	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54105	-0.8343	10	0.87932	D	0	-46.4256	18.7315	0.91736	0.0:1.0:0.0:0.0	.	504;536	O00592-2;O00592	.;PODXL_HUMAN	Y	538;504;494;536;504	ENSP00000440518:D538Y;ENSP00000442655:D504Y;ENSP00000367817:D536Y;ENSP00000319782:D504Y	ENSP00000319782:D504Y	D	-	1	0	PODXL	130839681	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.662000	0.90505	0.555000	0.69702	GAC		0.577	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		A	131189141	C	A	131189141	3	1	23	1	0	0	0	0	1	0	0	0	12180	855	30	5	74	5	PODXL	7	131189141	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	31014412	131189141	27949522	33	1745											
VIPR2	7434	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	158823446	158823446	+	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	tcgcggacggggtcgggcacCggcttcgccattttcgcttc	3	10	14	14	7	0	0	0	0	0	0	5	1	0	1	2	5	0	3	2	5	0	4			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:158823446C>A	ENST00000262178.2	-	13	1363	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L	VIPR2_ENST00000377633.3_Missense_Mutation_p.R377L|VIPR2_ENST00000402066.1_Missense_Mutation_p.R534L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	393					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGTCGGGCACCGGCTTCGCCA	0.706																																					Pancreas(154;1876 1931 2329 17914 20079)	.											0													12	16	15					7																	158823446		2180	4293	6473	SO:0001583	missense	7434			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.1178G>T	7.37:g.158823446C>A	ENSP00000262178:p.Arg393Leu		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	8.045	0.764687	0.15914	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.64260	-0.09;-0.09;-0.09	5.23	-2.09	0.07232	.	0.972737	0.08346	N	0.960015	T	0.25680	0.0625	N	0.00583	-1.355	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.19386	-1.0307	10	0.28530	T	0.3	.	8.2774	0.31881	0.3583:0.4777:0.0:0.164	.	393	P41587	VIPR2_HUMAN	L	393;377;534	ENSP00000262178:R393L;ENSP00000366860:R377L;ENSP00000384497:R534L	ENSP00000262178:R393L	R	-	2	0	VIPR2	158516207	0.254000	0.23992	0.005000	0.12908	0.288000	0.27193	0.645000	0.24782	-0.671000	0.05274	-0.678000	0.03780	CGG		0.706	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		A	158823446	C	A	158823446	3	1	23	1	0	0	0	0	1	0	0	0	17167	652	23	5	142	5	VIPR2	7	158823446	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	27634305	158823446	315217	34	1746											
TJP2	9414	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	71845079	71845079	+	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	ggcaatgatgtcgggatattTgttgctggcattcaagaagg	10	12	14	5	1	1	2	1	1	0	1	2	3	1	3	0	4	1	4	0	4	4	4			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr9:71845079T>G	ENST00000377245.4	+	11	1810	c.1602T>G	c.(1600-1602)ttT>ttG	p.F534L	TJP2_ENST00000539225.1_Missense_Mutation_p.F565L|TJP2_ENST00000453658.2_Missense_Mutation_p.F511L|TJP2_ENST00000265384.7_Missense_Mutation_p.F534L|TJP2_ENST00000348208.4_Missense_Mutation_p.F534L|TJP2_ENST00000535702.1_Missense_Mutation_p.F538L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	534	PDZ 3. {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						TCGGGATATTTGTTGCTGGCA	0.517																																						.											0													86	85	86					9																	71845079		2203	4300	6503	SO:0001583	missense	9414			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.1602T>G	9.37:g.71845079T>G	ENSP00000366453:p.Phe534Leu		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412389	0.83340	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.86	3.5	0.40072	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.71871	2.18	0.80722	D	1	B;D;D;P;P	0.71674	0.208;0.981;0.998;0.857;0.458	B;P;D;P;B	0.80764	0.038;0.86;0.994;0.498;0.2	T	0.71272	-0.4642	10	0.87932	D	0	.	10.9646	0.47406	0.0:0.1323:0.0:0.8677	.	565;538;534;534;534	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	L	511;534;534;534;538;565	ENSP00000392178:F511L;ENSP00000366453:F534L;ENSP00000345893:F534L;ENSP00000265384:F534L;ENSP00000442090:F538L;ENSP00000438262:F565L	ENSP00000265384:F534L	F	+	3	2	TJP2	71034899	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.278000	0.33179	1.145000	0.42336	0.528000	0.53228	TTT		0.517	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		G	71845079	T	G	71845079	3	3	23	1	0	0	0	0	1	0	0	0	15927	1809	63	5	1801	5	TJP2	9	71845079	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10		71845079	69368352	35	1747											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	chr10	89711920	89711926	+	Frame_Shift_Del	DEL	TACCTGT	TACCTGT	-																															gctatgtgtattattatagcTacctgttaaagaatcatctg																										TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	TACCTGT	TACCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr10:89711920_89711926delTACCTGT	ENST00000371953.3	+	6	1895_1901	c.538_544delTACCTGT	c.(538-546)tacctgttafs	p.YLL180fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	180	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.S179fs*3(1)|p.G165_*404del(1)|p.Y180*(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTATTATAGCTACCTGTTAAAGAATCA	0.377		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Substitution - Nonsense(1)	prostate(16)|central_nervous_system(13)|skin(9)|lung(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM043774|CM074469|HM971505	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.538_544delTACCTGT	10.37:g.89711920_89711926delTACCTGT	ENSP00000361021:p.Tyr180fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.377	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711926	TACCTGT	-	89711920	7	5	23	1	0	1	0	1	0	0	0	0	12738	1522	53	0	560	0	PTEN	10	89711920	Frame_Shift_Del	DEL	TACCTGT	TCGA-KL-8345-01A-11D-2310-10		89711920	45822827	36	1748	49	2									
PTEN	5728	bcgsc.ca	37	chr10	89711921	89711927	+	Frame_Shift_Del	DEL	TACCTGT	TACCTGT	-																															ctatgtgtattattatagctAcctgttaaagaatcatctgg																										TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	TACCTGT	TACCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr10:89711921_89711927delTACCTGT	ENST00000371953.3	+	6	1896_1902	c.539_545delTACCTGT	c.(538-546)ttacctgtafs	p.LPV180fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	180	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.S179fs*3(1)|p.G165_*404del(1)|p.Y180*(1)|p.V175fs*3(1)|p.L182*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTATAGCTACCTGTTAAAGAATCAT	0.382		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	59	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Complex - frameshift(3)|Substitution - Nonsense(2)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(9)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM043774|CM074469|HM971505	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.539_545delTACCTGT	10.37:g.89711921_89711927delTACCTGT	ENSP00000361021:p.Leu180fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.382	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89711927	TACCTGT	-	89711921	7	5	23	1	0	1	0	1	0	0	0	0	12738	391	14	0	561	0	PTEN	10	89711921	Frame_Shift_Del	DEL	TACCTGT	TCGA-KL-8345-01A-11D-2310-10	1	89711921	45822826	37	1749	49	2									
MTCH2	23788	broad.mit.edu;hgsc.bcm.edu	37	chr11	47653265	47653265	+	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	cgatcatctctcgagttgtcTagaaacaatcaacacacact	14	10	5	12	2	4	1	2	0	2	1	6	3	4	1	0	0	2	1	0	0	4	2			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr11:47653265T>C	ENST00000302503.3	-	6	527		c.e6-2		MTCH2_ENST00000534074.1_5'Flank|MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2						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						TCGAGTTGTCTAGAAACAATC	0.418																																						.											0													149	120	130					11																	47653265		2201	4298	6499	SO:0001630	splice_region_variant	23788			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.370-2A>G	11.37:g.47653265T>C			B2R7L8	Splice_Site	SNP	ENST00000302503.3	37	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425426	0.83667	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9784	0.71293	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTCH2	47609841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.465000	0.73538	2.188000	0.69820	0.533000	0.62120	.		0.418	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342	Intron	C	47653265	T	C	47653265	5	2	23	1	0	0	0	0	0	0	1	0	9914	1536	53	2	575	2	MTCH2	11	47653265	Splice_Site	SNP	T	TCGA-KL-8345-01A-11D-2310-10		47653265	87353251	38	1750											
OR1S2	219958	mdanderson.org	37	chr11	57971190	57971190	+	Missense_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	acgagatgactgtgagcaaaGtgccgaacctggcccgcatg	11	6	13	11	3	0	3	0	2	0	1	0	5	0	3	3	1	3	2	3	1	2	0			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr11:57971190G>A	ENST00000302592.6	-	1	463	c.464C>T	c.(463-465)aCt>aTt	p.T155I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T155I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTGAGCAAAGTGCCGAACCT	0.488																																						.											1	Substitution - Missense(1)	skin(1)											183	172	176					11																	57971190		2201	4296	6497	SO:0001583	missense	219958			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.464C>T	11.37:g.57971190G>A	ENSP00000305469:p.Thr155Ile		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.862128	0.00552	.	.	ENSG00000197887	ENST00000302592	T	0.35421	1.31	4.47	0.804	0.18697	GPCR, rhodopsin-like superfamily (1);	1.024400	0.07804	N	0.956995	T	0.11367	0.0277	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24440	-1.0160	10	0.34782	T	0.22	.	7.5141	0.27590	0.6178:0.0:0.3822:0.0	.	155	Q8NGQ3	OR1S2_HUMAN	I	155	ENSP00000305469:T155I	ENSP00000305469:T155I	T	-	2	0	OR1S2	57727766	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	-0.153000	0.10144	0.277000	0.22141	-0.285000	0.09966	ACT		0.488	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57971190	G	A	57971190	3	1	23	1	0	0	0	0	1	0	0	0	10973	1029	36	4	516	4	OR1S2	11	57971190	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	10317925	57971190	77035326	39	1751											
RASSF3	283349	mdanderson.org	37	chr12	65004520	65004520	+	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	ggcaagccccgctccggccaAcaagtgagtggcgcgcggcg	7	3	16	15	6	0	1	0	1	0	0	1	1	1	1	4	4	2	2	4	4	3	0	rs77813527	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr12:65004520A>G	ENST00000542104.1	+	1	228	c.108A>G	c.(106-108)caA>caG	p.Q36Q	RASSF3_ENST00000540088.1_3'UTR|RP11-338E21.1_ENST00000546135.1_RNA|RASSF3_ENST00000336061.2_Silent_p.Q36Q	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	36					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)		GCTCCGGCCAACAAGTGAGTG	0.726													G|||	624	0.124601	0.1755	0.121	5008	,	,		9170	0.0089		0.2078	False		,,,				2504	0.092					.											0								G	,	823,3551		97,629,1461	14	16	16		108,108	2.5	1	12	dbSNP_131	16	1644,6926		160,1324,2801	no	coding-synonymous,coding-synonymous	RASSF3	NM_001242691.1,NM_178169.3	,	257,1953,4262	GG,GA,AA		19.1832,18.8157,19.059	,	36/91,36/239	65004520	2467,10477	2187	4285	6472	SO:0001819	synonymous_variant	283349				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.108A>G	12.37:g.65004520A>G			Q86WH1	Silent	SNP	ENST00000542104.1	37	CCDS8969.1																																																																																				0.726	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1			G	65004520	A	G	65004520	2	3	23	1	0	0	0	0	0	0	0	1	13087	40	2	2		2	RASSF3	12	65004520	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10		65004520	68847375	40	1752											
PABPC3	5042	mdanderson.org	37	chr13	25671795	25671795	+	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	caacacagacagtgggtccaCgtcctgcagctgctgctgct	8	8	11	14	1	0	1	0	0	0	1	2	1	2	1	2	1	6	5	2	1	1	0	rs113416318	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr13:25671795C>T	ENST00000281589.3	+	1	1496	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	487					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)		AGTGGGTCCACGTCctgcagc	0.522													c|||	175	0.0349441	0.0537	0.0403	5008	,	,		21647	0.0119		0.0159	False		,,,				2504	0.0491					.											0																																										SO:0001583	missense	5042			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.1459C>T	13.37:g.25671795C>T	ENSP00000281589:p.Arg487Cys		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862076	0.51482	.	.	ENSG00000151846	ENST00000281589	T	0.31247	1.5	0.875	0.875	0.19130	.	0.135300	0.32190	U	0.006459	T	0.29556	0.0737	L	0.59436	1.845	0.58432	D	0.999997	D	0.58970	0.984	P	0.45660	0.489	T	0.12630	-1.0540	10	0.72032	D	0.01	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	487	Q9H361	PABP3_HUMAN	C	487	ENSP00000281589:R487C	ENSP00000281589:R487C	R	+	1	0	PABPC3	24569795	1.000000	0.71417	0.944000	0.38274	0.640000	0.38277	4.773000	0.62331	0.759000	0.33084	0.313000	0.20887	CGT		0.522	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671795	C	T	25671795	3	4	23	1	0	0	0	0	1	0	0	0	11365	536	19	1	1461	1	PABPC3	13	25671795	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10		25671795	89498083	41	1753											
COMMD6	170622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	76111919	76111919	+	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	catcggacttagcatccagcGgcggctcgctggacgcctcc	6	7	12	16	5	0	0	0	0	0	0	4	2	2	2	3	4	2	3	3	4	1	1	rs143172831		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr13:76111919G>A	ENST00000377615.3	-	2	187	c.23C>T	c.(22-24)cCg>cTg	p.P8L	COMMD6_ENST00000406936.3_Missense_Mutation_p.P8L|COMMD6_ENST00000377619.5_5'Flank|COMMD6_ENST00000460675.1_Intron|COMMD6_ENST00000355801.4_Missense_Mutation_p.P8L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	8					negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGCATCCAGCGGCGGCTCGCT	0.607																																						.											0													93	92	92					13																	76111919		2203	4300	6503	SO:0001583	missense	170622			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.23C>T	13.37:g.76111919G>A	ENSP00000366841:p.Pro8Leu		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	G	2.380	-0.342358	0.05243	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000355801	T;T;T	0.44482	0.95;0.95;0.92	4.65	-9.3	0.00649	.	1.794200	0.03225	N	0.178138	T	0.18173	0.0436	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.14144	-1.0483	9	0.17832	T	0.49	.	2.2716	0.04092	0.1391:0.3574:0.1364:0.3671	.	8;8	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	L	8	ENSP00000385660:P8L;ENSP00000366841:P8L;ENSP00000348054:P8L	ENSP00000348054:P8L	P	-	2	0	COMMD6	75009920	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-5.131000	0.00148	-3.141000	0.00233	-2.406000	0.00223	CCG		0.607	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		A	76111919	G	A	76111919	3	1	23	1	0	0	0	0	1	0	0	0	3720	1116	39	1	293	1	COMMD6	13	76111919	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	50440124	76111919	39057959	42	1754											
APEX1	328	broad.mit.edu	37	chr14	20925577	20925578	+	Frame_Shift_Del	DEL	CT	CT	-																															gattactttttgttgtcccaCtctctgttacctgcattgtg																								rs565835054		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:20925577_20925578delCT	ENST00000216714.3	+	5	1135_1136	c.867_868delCT	c.(865-870)cactctfs	p.S290fs	APEX1_ENST00000555414.1_Frame_Shift_Del_p.S290fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.S290fs|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	290	Mitochondrial targeting sequence (MTS).				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)	TGTTGTCCCACTCTCTGTTACC	0.485								Other BER factors																														.											0																																										SO:0001589	frameshift_variant	328			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.867_868delCT	14.37:g.20925581_20925582delCT	ENSP00000216714:p.Ser290fs		Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	CCDS9550.1																																																																																				0.485	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		-	20925578	CT	-	20925577	7	5	23	1	0	1	0	1	0	0	0	0	769	564	20	0	881	0	APEX1	14	20925577	Frame_Shift_Del	DEL	CT	TCGA-KL-8345-01A-11D-2310-10		20925577	86423963	43	1755											
C14orf21	161424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	24773484	24773484	+	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	gtgtgctgcagaacctaaagGttagatttctggcttttgcc	8	14	11	8	0	1	2	0	0	1	2	1	2	1	2	2	2	4	4	2	2	4	5			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:24773484G>A	ENST00000267425.3	+	8	1740		c.e8+1		NOP9_ENST00000396802.3_Intron	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein								poly(A) RNA binding (GO:0044822)										GAACCTAAAGGTTAGATTTCT	0.517																																						.											0													58	54	55					14																	24773484		2203	4300	6503	SO:0001630	splice_region_variant	161424				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1647+1G>A	14.37:g.24773484G>A			A8MY76|Q8IVF0|Q8TBS6	Splice_Site	SNP	ENST00000267425.3	37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821463	0.71028	.	.	ENSG00000196943	ENST00000267425;ENST00000544934	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1971	0.89826	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf21	23843324	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.521000	0.67086	2.832000	0.97577	0.655000	0.94253	.		0.517	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2		Intron	A	24773484	G	A	24773484	5	1	23	1	0	0	0	0	0	0	1	0	1769	1275	44	3	1678	3	C14orf21	14	24773484	Splice_Site	SNP	G	TCGA-KL-8345-01A-11D-2310-10	3847907	24773484	82576056	44	1756											
BEGAIN	57596	ucsc.edu	37	chr14	101005154	101005154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgctggcctgcgcgtGctccttctcctccgacgtgg	2	10	13	16	5	1	0	0	0	1	0	4	1	3	0	4	2	4	2	4	2	0	1			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:101005154G>T	ENST00000355173.2	-	7	1005	c.934C>A	c.(934-936)Cac>Aac	p.H312N	BEGAIN_ENST00000443071.2_Missense_Mutation_p.H312N|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.H248N	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	312						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)				GCCTGCGCGTGCTCCTTCTCC	0.682																																					NSCLC(159;1889 2010 9965 27479 40101)	.											0													36	33	34					14																	101005154		2197	4299	6496	SO:0001583	missense	57596			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.934C>A	14.37:g.101005154G>T	ENSP00000347301:p.His312Asn		Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	1.444	-0.566895	0.03910	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.47	3.5	0.40072	.	0.369879	0.29417	N	0.012213	T	0.19644	0.0472	N	0.13043	0.29	0.28097	N	0.931556	B	0.09022	0.002	B	0.08055	0.003	T	0.18116	-1.0347	9	0.07813	T	0.8	.	6.959	0.24587	0.0:0.1379:0.5106:0.3515	.	312	Q9BUH8	BEGIN_HUMAN	N	312;248;312	.	ENSP00000347301:H312N	H	-	1	0	BEGAIN	100074907	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.716000	0.47219	2.036000	0.60181	0.462000	0.41574	CAC		0.682	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		T	101005154	G	T	101005154	3	4	23	1	0	0	0	0	1	0	0	0	1397	1319	46	5	851	5	BEGAIN	14	101005154	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	76231670	101005154	6344386	45	1757											
CACNA1H	8912	ucsc.edu	37	chr16	1260601	1260601	+	Missense_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	aggagcgggtcttcctcagcGtctccaattacatcttcacg	8	11	9	13	3	5	0	2	0	3	0	7	1	6	1	2	2	3	0	2	2	2	3	rs28365125		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr16:1260601G>A	ENST00000348261.5	+	20	4236	c.3988G>A	c.(3988-3990)Gtc>Atc	p.V1330I	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1330I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1330I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1330					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)	CTTCCTCAGCGTCTCCAATTA	0.672																																						.											0								G	ILE/VAL,ILE/VAL	1,3987		0,1,1993	31	36	34		3988,3988	3.4	1	16	dbSNP_126	34	1,8313		0,1,4156	no	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	29,29	0,2,6149	AA,AG,GG		0.012,0.0251,0.0163	possibly-damaging,possibly-damaging	1330/2348,1330/2354	1260601	2,12300	1994	4157	6151	SO:0001583	missense	8912			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.3988G>A	16.37:g.1260601G>A	ENSP00000334198:p.Val1330Ile		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492879	0.26774	2.51E-4	1.2E-4	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97404	-4.37;-4.37	4.33	3.37	0.38596	.	0.069856	0.56097	D	0.000030	D	0.91392	0.7284	N	0.17838	0.53	0.26391	N	0.976573	B;B;B;B;B	0.33000	0.393;0.016;0.035;0.012;0.068	B;B;B;B;B	0.23275	0.04;0.045;0.013;0.005;0.027	D	0.84502	0.0617	10	0.34782	T	0.22	.	11.7075	0.51605	0.0879:0.0:0.9121:0.0	rs28365125;rs45605133	71;71;71;1330;1330	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	I	1330	ENSP00000334198:V1330I;ENSP00000351401:V1330I	ENSP00000334198:V1330I	V	+	1	0	CACNA1H	1200602	0.996000	0.38824	1.000000	0.80357	0.952000	0.60782	2.631000	0.46502	1.034000	0.39945	0.543000	0.68304	GTC		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1260601	G	A	1260601	3	1	23	1	0	0	0	0	1	0	0	0	2545	1145	40	1	4062	1	CACNA1H	16	1260601	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10		1260601	89094152	46	1758											
CORO7	79585	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr16	4445319	4445319	+	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	ccgcggctttgttctggggtCaaagatccgcagctgcttgt	5	12	13	11	3	2	1	1	0	1	1	3	1	3	1	2	3	2	5	2	3	1	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr16:4445319C>T	ENST00000251166.4	-	7	731	c.586G>A	c.(586-588)Gac>Aac	p.D196N	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.D196N|CORO7_ENST00000537233.2_Missense_Mutation_p.D178N|CORO7_ENST00000423908.2_Missense_Mutation_p.D28N|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000574025.1_Missense_Mutation_p.D111N	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	196					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						GTTCTGGGGTCAAAGATCCGC	0.602																																						.											0													71	73	72					16																	4445319		2197	4300	6497	SO:0001583	missense	79585			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.586G>A	16.37:g.4445319C>T	ENSP00000251166:p.Asp196Asn		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325399	0.81580	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000423908	T;T	0.02158	4.42;4.42	4.17	4.17	0.49024	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.660420	0.15690	N	0.249481	T	0.07818	0.0196	L	0.45228	1.405	0.47123	D	0.999322	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.91635	0.998;0.997;0.994;0.999	T	0.28235	-1.0050	10	0.49607	T	0.09	-25.4858	11.8635	0.52480	0.0:1.0:0.0:0.0	.	111;178;196;177	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	N	196;111;28	ENSP00000251166:D196N;ENSP00000391530:D28N	ENSP00000251166:D196N	D	-	1	0	CORO7	4385320	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	3.870000	0.56070	2.135000	0.66039	0.563000	0.77884	GAC		0.602	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		T	4445319	C	T	4445319	3	4	23	1	0	0	0	0	1	0	0	0	3759	826	29	4	2279	4	CORO7	16	4445319	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	3184718	4445319	85909434	47	1759											
KRT38	8687	mdanderson.org	37	chr17	39595539	39595539	+	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	tcggccttggccagggtcgcAtcatccaggagcttctgtgt	5	11	13	12	2	2	0	1	0	1	0	5	1	3	1	3	4	1	2	3	4	0	2	rs117668654	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:39595539A>G	ENST00000246646.3	-	3	647	c.648T>C	c.(646-648)gaT>gaC	p.D216D		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	216	Coil 1B.|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)				CCAGGGTCGCATCATCCAGGA	0.632													G|||	58	0.0115815	8e-04	0.0043	5008	,	,		17656	0.0278		0.0089	False		,,,				2504	0.0174					.											0													85	77	79					17																	39595539		2203	4300	6503	SO:0001819	synonymous_variant	8687			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.648T>C	17.37:g.39595539A>G			A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																				0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		G	39595539	A	G	39595539	2	3	23	1	0	0	0	0	0	0	0	1	8475	214	8	4		4	KRT38	17	39595539	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10		39595539	41599671	48	1760											
SC65	10609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	39963092	39963092	+	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	gtgggtgaactccagcagctCccgcagctcggcggtctggt	5	8	15	13	3	1	1	0	1	1	0	4	1	3	1	2	4	4	4	2	4	1	0			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:39963092C>G	ENST00000355468.3	-	7	1568	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	LEPREL4_ENST00000393928.1_Missense_Mutation_p.E368Q			Q92791	SC65_HUMAN	leprecan-like 4	368	Asp/Glu-rich (acidic).				synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCAGCAGCTCCCGCAGCTCG	0.592																																						.											0													62	52	56					17																	39963092		2203	4300	6503	SO:0001583	missense	10609			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"nucleolar autoantigen (55kD)", "rat synaptonemal complex protein"			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.1102G>C	17.37:g.39963092C>G	ENSP00000347649:p.Glu368Gln		Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867921	0.72065	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.39787	1.06;1.06	5.36	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	L	0.55017	1.72	0.46701	D	0.999167	P;B	0.41450	0.75;0.312	B;B	0.43809	0.432;0.103	T	0.39014	-0.9634	10	0.42905	T	0.14	-23.401	14.5908	0.68362	0.0:0.8527:0.1473:0.0	.	357;368	B4DVZ5;Q92791	.;SC65_HUMAN	Q	368;368;357	ENSP00000347649:E368Q;ENSP00000377505:E368Q	ENSP00000347649:E368Q	E	-	1	0	LEPREL4	37216618	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.102000	0.31050	1.218000	0.43458	0.609000	0.83330	GAG		0.592	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			G	39963092	C	G	39963092	3	3	23	1	0	0	0	0	1	0	0	0	13867	864	30	5	223	5	SC65	17	39963092	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	367553	39963092	41232118	49	1761											
BPTF	2186	hgsc.bcm.edu;bcgsc.ca	37	chr17	65908787	65908787	+	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	cacgatgacctccacagtggCcacagaatcaaaaactgtga	15	6	8	12	1	1	3	1	2	0	1	2	4	2	3	3	1	1	0	3	1	3	0			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:65908787C>T	ENST00000321892.4	+	13	5226	c.5165C>T	c.(5164-5166)gCc>gTc	p.A1722V	BPTF_ENST00000335221.5_Missense_Mutation_p.A1722V|BPTF_ENST00000306378.6_Missense_Mutation_p.A1596V|BPTF_ENST00000424123.3_Missense_Mutation_p.A1583V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1722	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCCACAGTGGCCACAGAATCA	0.408																																						.											0													83	83	83					17																	65908787		2203	4300	6503	SO:0001583	missense	2186			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.5165C>T	17.37:g.65908787C>T	ENSP00000315454:p.Ala1722Val		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	14.36	2.511205	0.44660	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63580	-0.05;-0.05;-0.05	5.47	5.47	0.80525	.	.	.	.	.	T	0.68696	0.3029	N	0.24115	0.695	0.28907	N	0.892942	D;D	0.69078	0.995;0.997	P;D	0.66196	0.871;0.942	T	0.66540	-0.5898	9	0.72032	D	0.01	-10.0118	17.8666	0.88796	0.0:1.0:0.0:0.0	.	1596;1722	Q12830-2;Q12830-4	.;.	V	1596;1722;1722	ENSP00000307208:A1596V;ENSP00000334351:A1722V;ENSP00000315454:A1722V	ENSP00000307208:A1596V	A	+	2	0	BPTF	63339249	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.725000	0.68507	2.728000	0.93425	0.650000	0.86243	GCC		0.408	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65908787	C	T	65908787	3	4	23	1	0	0	0	0	1	0	0	0	1495	739	26	3	5215	3	BPTF	17	65908787	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	25945695	65908787	15286423	50	1762											
SSTR2	6752	broad.mit.edu	37	chr17	71165682	71165682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccgctatgccaagatgaAgaccatcaccaacatttaca	14	8	5	14	1	1	3	1	1	0	2	2	3	2	3	5	0	3	1	5	0	5	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:71165682A>G	ENST00000357585.2	+	2	593	c.224A>G	c.(223-225)aAg>aGg	p.K75R	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.K75R	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	75					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCCAAGATGAAGACCATCACC	0.488																																						.											0													251	202	219					17																	71165682		2203	4300	6503	SO:0001583	missense	6752				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.224A>G	17.37:g.71165682A>G	ENSP00000350198:p.Lys75Arg		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323068	0.81580	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.33438	1.41;1.41	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.38838	1.175	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.42632	-0.9440	10	0.62326	D	0.03	.	15.7807	0.78257	1.0:0.0:0.0:0.0	.	75	P30874	SSR2_HUMAN	R	75	ENSP00000350198:K75R;ENSP00000326616:K75R	ENSP00000326616:K75R	K	+	2	0	SSTR2	68677277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.204000	0.70986	0.528000	0.53228	AAG		0.488	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			G	71165682	A	G	71165682	3	3	23	1	0	0	0	0	1	0	0	0	15197	72	3	2	226	2	SSTR2	17	71165682	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	5256895	71165682	10029528	51	1763											
CXXC1	30827	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr18	47812501	47812501	+	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	accctgcccggcgctgcaggTctggatcagggacaggcctc	6	6	14	15	2	2	0	1	0	1	0	3	2	2	2	3	5	2	2	3	5	0	0			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr18:47812501T>G	ENST00000285106.6	-	4	1064	c.350A>C	c.(349-351)gAc>gCc	p.D117A	CXXC1_ENST00000412036.2_Missense_Mutation_p.D117A|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.D117A	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	117				D -> N (in Ref. 1; AAF37799). {ECO:0000305}.	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						GCGCTGCAGGTCTGGATCAGG	0.662																																						.											0													69	79	76					18																	47812501		2203	4300	6503	SO:0001583	missense	30827			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.350A>C	18.37:g.47812501T>G	ENSP00000285106:p.Asp117Ala		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	1.870	-0.460559	0.04508	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.21734	1.99;1.99	3.62	2.31	0.28768	.	0.645728	0.15896	N	0.239283	T	0.07143	0.0181	N	0.03608	-0.345	0.27244	N	0.959062	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.36601	-0.9741	10	0.10636	T	0.68	-7.7695	6.2987	0.21101	0.0:0.0:0.2571:0.7428	.	117;117;117;117	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	A	117	ENSP00000285106:D117A;ENSP00000390475:D117A	ENSP00000285106:D117A	D	-	2	0	CXXC1	46066499	0.817000	0.29147	0.994000	0.49952	0.808000	0.45660	1.338000	0.33873	1.621000	0.50320	0.443000	0.29094	GAC		0.662	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		G	47812501	T	G	47812501	3	3	23	1	0	0	0	0	1	0	0	0	4097	1667	58	5	1680	5	CXXC1	18	47812501	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10		47812501	30264747	52	1764											
MUC16	94025	broad.mit.edu	37	chr19	9068199	9068199	+	Missense_Mutation	SNP	T	T	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	tgtccggtgacattgtgggcTtttcagtgccttggatggat	5	15	14	7	1	1	1	1	1	0	0	2	3	2	3	2	4	1	1	2	4	0	4			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr19:9068199T>C	ENST00000397910.4	-	3	19450	c.19247A>G	c.(19246-19248)aAg>aGg	p.K6416R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6418	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						CATTGTGGGCTTTTCAGTGCC	0.488																																						.											0													197	199	198					19																	9068199		2039	4182	6221	SO:0001583	missense	94025			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.19247A>G	19.37:g.9068199T>C	ENSP00000381008:p.Lys6416Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.954	0.177185	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	2.15	-0.166	0.13351	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.44174	-0.9345	8	0.87932	D	0	.	2.7232	0.05206	0.0:0.1679:0.2728:0.5592	.	6416	B5ME49	.	R	6416	ENSP00000381008:K6416R	ENSP00000381008:K6416R	K	-	2	0	MUC16	8929199	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.030000	0.13688	-0.106000	0.12110	0.149000	0.16113	AAG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9068199	T	C	9068199	3	2	23	1	0	0	0	0	1	0	0	0	9973	1609	56	2	24604	2	MUC16	19	9068199	Missense_Mutation	SNP	T	TCGA-KL-8345-01A-11D-2310-10		9068199	50060784	53	1765											
MAG	4099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	35800935	35800935	+	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	agcgggagttcgtgtactcgGagcgcagcggcctcgtgctc	5	8	16	12	6	0	0	0	0	0	0	4	2	0	2	1	3	5	4	1	3	1	2			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr19:35800935G>T	ENST00000392213.3	+	8	1549	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Nonsense_Mutation_p.E439*|MAG_ENST00000361922.4_Nonsense_Mutation_p.E464*	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	464	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)			CGTGTACTCGGAGCGCAGCGG	0.677																																						.											0													66	59	61					19																	35800935		2203	4300	6503	SO:0001587	stop_gained	4099			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.1390G>T	19.37:g.35800935G>T	ENSP00000376048:p.Glu464*		B7Z2E5|F5GYC0|Q567S4	Nonsense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	38	7.158199	0.98103	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	.	.	.	4.8	4.8	0.61643	.	0.111838	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	11.1222	0.48298	0.0:0.1867:0.8133:0.0	.	.	.	.	X	501;464;464;439	.	ENSP00000262624:E501X	E	+	1	0	MAG	40492775	0.973000	0.33851	0.993000	0.49108	0.982000	0.71751	1.922000	0.40045	2.497000	0.84241	0.462000	0.41574	GAG		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35800935	G	T	35800935	4	4	23	1	0	0	0	0	0	1	0	0	9162	1175	41	5	1412	5	MAG	19	35800935	Nonsense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	26732736	35800935	23328048	54	1766											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr21	41514495	41514495	+	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	gtcctcttacctccgtccatGaggttggcccagtaaatgac	8	11	9	13	1	1	2	0	2	1	0	4	2	4	2	5	2	1	2	5	2	3	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr21:41514495G>A	ENST00000400454.1	-	18	3873	c.3396C>T	c.(3394-3396)ctC>ctT	p.L1132L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1132	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L1132L(1)		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)				CTCCGTCCATGAGGTTGGCCC	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	.											1	Substitution - coding silent(1)	lung(1)											113	106	108					21																	41514495		1881	4103	5984	SO:0001819	synonymous_variant	1826			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.3396C>T	21.37:g.41514495G>A			O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41514495	G	A	41514495	2	1	23	1	0	0	0	0	0	0	0	1	4768	1277	45	4		4	DSCAM	21	41514495	Silent	SNP	G	TCGA-KL-8345-01A-11D-2310-10		41514495	6615400	55	1767											
GAB4	128954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	17443634	17443634	+	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	tggcccgagtcacagcttggCgcccctgggaggctctgagg	5	7	16	13	2	2	1	1	1	1	0	2	3	2	2	3	5	1	2	3	5	0	1	rs373667129		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:17443634C>T	ENST00000400588.1	-	10	1821	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	572										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)				CACAGCTTGGCGCCCCTGGGA	0.597																																						.											0								C	THR/ALA	0,4378		0,0,2189	43	49	47		1714	1.4	0.3	22		47	1,8591	1.2+/-3.3	0,1,4295	no	missense	GAB4	NM_001037814.1	58	0,1,6484	TT,TC,CC		0.0116,0.0,0.0077	benign	572/575	17443634	1,12969	2189	4296	6485	SO:0001583	missense	128954			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.1714G>A	22.37:g.17443634C>T	ENSP00000383431:p.Ala572Thr			Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478810	0.44044	0.0	1.16E-4	ENSG00000215568	ENST00000400588	T	0.24908	1.83	2.46	1.38	0.22167	.	0.295957	0.37715	N	0.001974	T	0.10337	0.0253	N	0.16903	0.455	0.22354	N	0.999175	B	0.30709	0.291	B	0.15484	0.013	T	0.14392	-1.0474	10	0.38643	T	0.18	.	2.9911	0.05983	0.2728:0.5738:0.0:0.1533	.	572	Q2WGN9	GAB4_HUMAN	T	572	ENSP00000383431:A572T	ENSP00000383431:A572T	A	-	1	0	GAB4	15823634	0.341000	0.24801	0.270000	0.24601	0.000000	0.00434	0.794000	0.26958	0.552000	0.29026	-0.399000	0.06403	GCC		0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		T	17443634	C	T	17443634	3	4	23	1	0	0	0	0	1	0	0	0	6151	768	27	1	14	1	GAB4	22	17443634	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10		17443634	33860932	56	1768											
ARVCF	421	ucsc.edu	37	chr22	19967489	19967489	+	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	tgccgtacacgccgcttgacAccctcgttctcaaagcacag	9	8	8	16	4	1	1	1	1	1	0	3	1	1	1	3	0	3	4	3	0	2	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:19967489A>G	ENST00000263207.3	-	6	1464	c.1173T>C	c.(1171-1173)ggT>ggC	p.G391G	ARVCF_ENST00000406522.1_Silent_p.G328G|ARVCF_ENST00000406259.1_Silent_p.G391G|ARVCF_ENST00000401994.1_Silent_p.G328G|ARVCF_ENST00000344269.3_Silent_p.G328G|ARVCF_ENST00000487793.1_5'Flank	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	391					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)					GCCGCTTGACACCCTCGTTCT	0.697																																						.											0													19	18	18					22																	19967489		2185	4281	6466	SO:0001819	synonymous_variant	421				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.1173T>C	22.37:g.19967489A>G			B7WNV2	Silent	SNP	ENST00000263207.3	37	CCDS13771.1																																																																																				0.697	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		G	19967489	A	G	19967489	2	3	23	1	0	0	0	0	0	0	0	1	1003	146	6	2		2	ARVCF	22	19967489	Silent	SNP	A	TCGA-KL-8345-01A-11D-2310-10	2523855	19967489	31337077	57	1769											
CSF2RB	1439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	37333576	37333576	+	Missense_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	cccagccaggcccgcctgccGcctcccacacacctgagaaa	9	3	8	21	2	0	1	0	1	0	1	1	2	1	1	8	1	2	0	8	1	1	0			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:37333576G>A	ENST00000403662.3	+	14	1948	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	CSF2RB_ENST00000536485.1_Missense_Mutation_p.A523T|CSF2RB_ENST00000262825.5_Missense_Mutation_p.A582T|CSF2RB_ENST00000406230.1_Missense_Mutation_p.A582T			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	576					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)	CCCGCCTGCCGCCTCCCACAC	0.652																																						.											0													20	23	22					22																	37333576		2202	4298	6500	SO:0001583	missense	1439			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.1726G>A	22.37:g.37333576G>A	ENSP00000384053:p.Ala576Thr		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	2.785	-0.252666	0.05829	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91180	-2.29;-2.8;-2.8;-2.8	5.36	-0.629	0.11533	.	1.749050	0.03156	N	0.168694	T	0.80934	0.4719	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.06405	0.002;0.001	T	0.65833	-0.6072	10	0.09843	T	0.71	.	3.4684	0.07558	0.1302:0.492:0.227:0.1508	.	582;576	P32927-2;P32927	.;IL3RB_HUMAN	T	576;576;582;582;523	ENSP00000384053:A576T;ENSP00000262825:A582T;ENSP00000385271:A582T;ENSP00000440003:A523T	ENSP00000262825:A582T	A	+	1	0	CSF2RB	35663522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.521000	0.06245	-0.555000	0.06142	-2.506000	0.00189	GCC		0.652	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		A	37333576	G	A	37333576	3	1	23	1	0	0	0	0	1	0	0	0	3935	1087	38	1	1776	1	CSF2RB	22	37333576	Missense_Mutation	SNP	G	TCGA-KL-8345-01A-11D-2310-10	17366087	37333576	13970990	58	1770											
CELSR1	9620	broad.mit.edu;mdanderson.org	37	chr22	46763729	46763729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgatgagcagcagcaggAggaatgcggtcctcagcagg	10	5	16	10	2	1	2	1	2	0	0	2	4	2	4	1	4	5	5	1	4	1	0			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:46763729A>G	ENST00000262738.3	-	28	7975	c.7976T>C	c.(7975-7977)cTc>cCc	p.L2659P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2659	Poly-Leu.				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)		CAGCAGCAGGAGGAATGCGGT	0.642											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													37	33	35					22																	46763729		2199	4299	6498	SO:0001583	missense	9620			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.7976T>C	22.37:g.46763729A>G	ENSP00000262738:p.Leu2659Pro	941	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	a	24.5	4.535840	0.85812	.	.	ENSG00000075275	ENST00000262738	T	0.37915	1.17	4.76	4.76	0.60689	GPCR, family 2-like (1);	0.103749	0.39834	U	0.001258	T	0.61999	0.2392	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.68164	-0.5481	10	0.62326	D	0.03	.	13.9897	0.64357	1.0:0.0:0.0:0.0	.	2659	Q9NYQ6	CELR1_HUMAN	P	2659	ENSP00000262738:L2659P	ENSP00000262738:L2659P	L	-	2	0	CELSR1	45142393	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.859000	0.75467	1.778000	0.52293	0.463000	0.42550	CTC		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46763729	A	G	46763729	3	3	23	1	0	0	0	0	1	0	0	0	3221	304	11	2	1100	2	CELSR1	22	46763729	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	9430153	46763729	4540837	59	1771											
SH3KBP1	30011	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	19854348	19854348	+	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	atgatttcacccacgctgatCgtcagctcatcatcgtgctg	8	12	8	13	3	4	2	4	2	0	0	6	2	4	2	1	0	2	3	1	0	0	1			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:19854348C>T	ENST00000397821.3	-	2	347	c.57G>A	c.(55-57)acG>acA	p.T19T	SH3KBP1_ENST00000379697.3_Silent_p.T19T	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	19	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCACGCTGATCGTCAGCTCAT	0.512																																						.											0													201	155	171					X																	19854348		2203	4300	6503	SO:0001819	synonymous_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.57G>A	X.37:g.19854348C>T			B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	CCDS14193.1																																																																																				0.512	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		T	19854348	C	T	19854348	2	4	23	1	0	0	0	0	0	0	0	1	14255	871	31	1		1	SH3KBP1	23	19854348	Silent	SNP	C	TCGA-KL-8345-01A-11D-2310-10		19854348	135416212	60	1772											
KDM5C	8242	broad.mit.edu;mdanderson.org	37	chrX	53239928	53239928	+	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	aaaggctgagaagaccatgcCcacgtagagccagggcacct	13	4	12	12	1	0	3	0	1	0	3	0	4	0	3	4	2	2	3	4	2	3	1			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:53239928C>T	ENST00000375401.3	-	11	2045	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	KDM5C_ENST00000452825.3_Missense_Mutation_p.G438S|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375383.3_Missense_Mutation_p.G464S|KDM5C_ENST00000404049.3_Missense_Mutation_p.G504S|KDM5C_ENST00000375379.3_Missense_Mutation_p.G505S	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	505	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						AAGACCATGCCCACGTAGAGC	0.522			"N, F, S"		clear cell renal carcinoma																																	.		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													167	110	129					X																	53239928		2203	4300	6503	SO:0001583	missense	8242			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.1513G>A	X.37:g.53239928C>T	ENSP00000364550:p.Gly505Ser		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778962	0.90195	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.42	5.42	0.78866	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	H	0.94183	3.505	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	0.92637	0.6121	10	0.87932	D	0	-17.5819	15.4991	0.75680	0.0:1.0:0.0:0.0	.	438;504;505	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	S	438;505;504;505;464	ENSP00000445176:G438S;ENSP00000364550:G505S;ENSP00000385394:G504S;ENSP00000364528:G505S;ENSP00000364532:G464S	ENSP00000364528:G505S	G	-	1	0	KDM5C	53256653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.784000	0.85713	2.252000	0.74401	0.600000	0.82982	GGC		0.522	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		T	53239928	C	T	53239928	3	4	23	1	0	0	0	0	1	0	0	0	8135	623	22	3	3331	3	KDM5C	23	53239928	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	33385580	53239928	102030632	61	1773											
TAF1	6872	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	70627428	70627428	+	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	tcacatttctccttagagacCtcataagtccatccaccggc	10	11	5	15	1	3	1	2	0	1	1	6	2	5	1	5	1	0	0	5	1	2	3			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:70627428C>T	ENST00000373790.4	+	27	4160	c.4109C>T	c.(4108-4110)cCt>cTt	p.P1370L	TAF1_ENST00000449580.1_Missense_Mutation_p.P1370L|TAF1_ENST00000423759.1_Missense_Mutation_p.P1391L|TAF1_ENST00000276072.3_Missense_Mutation_p.P1391L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1370	Interaction with ASF1A and ASF1B.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCTTAGAGACCTCATAAGTCC	0.468																																						.											0													85	77	80					X																	70627428		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4109C>T	X.37:g.70627428C>T	ENSP00000362895:p.Pro1370Leu		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.6|20.6	4.021085|4.021085	0.75275|0.75275	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000463163;ENST00000437147|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.19532	.|2.14;2.14;2.14;2.14	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Bromodomain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20007|0.20007	0.0481|0.0481	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|B;P;B	.|0.45715	.|0.002;0.865;0.007	.|B;B;B	.|0.34722	.|0.002;0.188;0.008	T|T	0.12682|0.12682	-1.0538|-1.0538	5|10	.|0.11485	.|T	.|0.65	.|.	17.4533|17.4533	0.87599|0.87599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1370;1370;1391	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	F|L	36;25|1370;1370;1391;76;76;1391	.|ENSP00000362895:P1370L;ENSP00000389000:P1370L;ENSP00000406549:P1391L;ENSP00000276072:P1391L	.|ENSP00000276072:P1391L	L|P	+|+	1|2	0|0	TAF1|TAF1	70544153|70544153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	7.317000|7.317000	0.79018|0.79018	2.305000|2.305000	0.77605|0.77605	0.462000|0.462000	0.41574|0.41574	CTC|CCT		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70627428	C	T	70627428	3	4	23	1	0	0	0	0	1	0	0	0	15510	681	24	4	4278	4	TAF1	23	70627428	Missense_Mutation	SNP	C	TCGA-KL-8345-01A-11D-2310-10	17387500	70627428	84643132	62	1774											
SLITRK2	84631	broad.mit.edu	37	chrX	144906354	144906354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaataaaaccgttttatAtggaactcccaggaaatgct	16	11	6	8	1	1	0	1	0	0	0	2	2	2	2	2	2	3	2	2	2	8	4	rs369952590		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:144906354A>G	ENST00000370490.1	+	1	6666	c.2411A>G	c.(2410-2412)tAt>tGt	p.Y804C	SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y804C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y804C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y804C|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y804C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	804					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGTTTTATATGGAACTCCC	0.448																																						.											0								A	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	0,3835		0,0,0,1632,571	103	101	102		2411,2411,2411,2411,2411,2411,2411,2411	5.4	1	X		102	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense,missense,missense,missense,missense	SLITRK2	NM_001144003.2,NM_001144004.2,NM_001144005.2,NM_001144006.2,NM_001144008.2,NM_001144009.2,NM_001144010.2,NM_032539.4	194,194,194,194,194,194,194,194	0,0,1,4060,2442	GG,GA,G,AA,A		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	804/846,804/846,804/846,804/846,804/846,804/846,804/846,804/846	144906354	1,10562	2203	4300	6503	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2411A>G	X.37:g.144906354A>G	ENSP00000359521:p.Tyr804Cys		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187848	0.57909	0.0	1.49E-4	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74746	-0.3561	10	0.66056	D	0.02	-6.9413	12.2755	0.54733	1.0:0.0:0.0:0.0	.	804	Q9H156	SLIK2_HUMAN	C	804	ENSP00000411681:Y804C;ENSP00000359521:Y804C;ENSP00000397015:Y804C;ENSP00000407347:Y804C;ENSP00000412010:Y804C	ENSP00000359521:Y804C	Y	+	2	0	SLITRK2	144714046	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.027000	0.76463	1.803000	0.52742	0.486000	0.48141	TAT		0.448	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		G	144906354	A	G	144906354	3	3	23	1	0	0	0	0	1	0	0	0	14743	449	16	4	2413	4	SLITRK2	23	144906354	Missense_Mutation	SNP	A	TCGA-KL-8345-01A-11D-2310-10	74278926	144906354	10364206	63	1775											
PRAMEF2	65122	mdanderson.org	37	chr1	12921594	12921594	+	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	cccctgcccttcctgtggctCatcaccgtctgaggaactgg	5	10	10	16	1	3	1	2	1	1	0	4	2	4	2	5	3	2	1	5	3	1	1	rs201429745	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:12921594C>G	ENST00000240189.2	+	4	1472	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	462					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)		TCCTGTGGCTCATCACCGTCT	0.557																																						.											0													28	34	32					1																	12921594		2001	4117	6118	SO:0001587	stop_gained	65122				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.1385C>G	1.37:g.12921594C>G	ENSP00000240189:p.Ser462*			Nonsense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271531	0.40194	.	.	ENSG00000120952	ENST00000240189	.	.	.	0.741	0.741	0.18336	.	18.936500	0.00166	N	0.000000	.	.	.	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.7974	0.13279	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000240189:S462X	S	+	2	0	PRAMEF2	12844181	0.000000	0.05858	0.057000	0.19452	0.044000	0.14063	-2.662000	0.00850	0.683000	0.31428	0.173000	0.16961	TCA		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12921594	C	G	12921594	4	3	24	1	0	0	0	0	0	1	0	0	12435	838	29	5	1395	5	PRAMEF2	1	12921594	Nonsense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10		12921594	236329027	1	1776											
FAM131C	348487	mdanderson.org	37	chr1	16384986	16384986	+	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	gagccgctgtccatggagggGagggagcccggggggtgggt	5	5	23	8	2	0	0	0	0	0	0	1	4	1	3	3	8	2	1	3	8	0	0	rs28496958	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:16384986G>T	ENST00000375662.4	-	7	972	c.789C>A	c.(787-789)ctC>ctA	p.L263L	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	263	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGGAGGGGAGGGAGCCCG	0.711																																						.											0													2	2	2					1																	16384986		1272	2832	4104	SO:0001819	synonymous_variant	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.789C>A	1.37:g.16384986G>T			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																				0.711	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		T	16384986	G	T	16384986	2	4	24	1	0	0	0	0	0	0	0	1	5441	1161	41	5		5	FAM131C	1	16384986	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	3463392	16384986	232865635	2	1777											
NR0B2	8431	ucsc.edu	37	chr1	27240351	27240351	+	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	cgggggacagccttgaggctGgagctcagaagtgcgtagag	9	6	18	8	2	1	3	1	1	0	2	1	5	1	5	1	4	3	3	1	4	2	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:27240351G>A	ENST00000254227.3	-	1	106	c.81C>T	c.(79-81)tcC>tcT	p.S27S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	27					cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCTTGAGGCTGGAGCTCAGAA	0.657																																						.											0													43	44	44					1																	27240351		2203	4300	6503	SO:0001819	synonymous_variant	8431			AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"Nuclear hormone receptors"	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.81C>T	1.37:g.27240351G>A			F1D8P5|Q5QP36	Silent	SNP	ENST00000254227.3	37	CCDS291.1																																																																																				0.657	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1			A	27240351	G	A	27240351	2	1	24	1	0	0	0	0	0	0	0	1	10614	1335	47	4		4	NR0B2	1	27240351	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	10855365	27240351	222010270	3	1778											
COL16A1	1307	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	32148832	32148832	+	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	cagtggggccaggtggtcccCgaggtcccggaagtccctgc	5	6	16	14	2	0	0	0	0	0	0	3	2	3	1	5	6	1	0	5	6	1	0			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:32148832C>T	ENST00000373672.3	-	36	2948	c.2432G>A	c.(2431-2433)cGg>cAg	p.R811Q	COL16A1_ENST00000271069.6_Missense_Mutation_p.R810Q|COL16A1_ENST00000373668.3_Missense_Mutation_p.R811Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	811	Collagen-like 4.|Triple-helical region 5 (COL5) 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)		AGGTGGTCCCCGAGGTCCCGG	0.597																																					Colon(143;498 1786 21362 25193 36625)	.											0													89	98	95					1																	32148832		1927	4139	6066	SO:0001583	missense	1307			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.2432G>A	1.37:g.32148832C>T	ENSP00000362776:p.Arg811Gln		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768237	0.49680	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	D;D;D;D	0.96011	-3.23;-3.88;-3.23;-3.23	5.53	0.00441	0.14058	.	0.283230	0.32753	N	0.005683	D	0.89808	0.6822	L	0.35723	1.085	0.30861	N	0.733544	B;B;B	0.19331	0.035;0.006;0.005	B;B;B	0.17722	0.019;0.005;0.003	T	0.80603	-0.1309	10	0.23891	T	0.37	.	8.9131	0.35565	0.0:0.5899:0.0:0.4101	.	811;811;811	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	Q	811;810;32;811	ENSP00000362776:R811Q;ENSP00000271069:R810Q;ENSP00000411457:R32Q;ENSP00000362772:R811Q	ENSP00000271069:R810Q	R	-	2	0	COL16A1	31921419	0.001000	0.12720	0.883000	0.34634	0.976000	0.68499	-0.316000	0.08071	-0.158000	0.11040	-0.251000	0.11542	CGG		0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32148832	C	T	32148832	3	4	24	1	0	0	0	0	1	0	0	0	3673	652	23	1	2526	1	COL16A1	1	32148832	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	4908481	32148832	217101789	4	1779											
TAL1	6886	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	47685621	47685621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacagggtccttgccaGtcttggcccgctgggtgccc	4	8	12	17	1	1	0	0	0	1	0	2	0	2	0	6	3	2	1	6	3	0	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:47685621G>T	ENST00000294339.3	-	4	1343	c.767C>A	c.(766-768)aCt>aAt	p.T256N	TAL1_ENST00000371884.2_Missense_Mutation_p.T256N|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.T258N	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	256					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|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 factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCCTTGCCAGTCTTGGCCCG	0.637			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																	.		Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0													14	14	14					1																	47685621		2203	4298	6501	SO:0001583	missense	6886			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.767C>A	1.37:g.47685621G>T	ENSP00000294339:p.Thr256Asn		D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441648	0.43326	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97505	-4.4;-4.41;-4.4	5.01	3.05	0.35203	Helix-loop-helix DNA-binding (1);	0.276657	0.31872	N	0.006936	D	0.88760	0.6524	N	0.08118	0	0.21652	N	0.9996	B	0.02656	0.0	B	0.01281	0.0	T	0.75172	-0.3411	10	0.18276	T	0.48	.	4.7753	0.13176	0.1479:0.4335:0.4186:0.0	.	256	P17542	TAL1_HUMAN	N	256;258;256	ENSP00000360951:T256N;ENSP00000360950:T258N;ENSP00000294339:T256N	ENSP00000294339:T256N	T	-	2	0	TAL1	47458208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.222000	0.32515	2.607000	0.88179	0.579000	0.79373	ACT		0.637	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		T	47685621	G	T	47685621	3	4	24	1	0	0	0	0	1	0	0	0	15538	1029	36	5	232	5	TAL1	1	47685621	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	15536789	47685621	201565000	5	1780											
CELSR2	1952	ucsc.edu	37	chr1	109810544	109810544	+	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	cagctagccctgctcctgcgCaacgccacgcagcacacagc	9	4	9	19	3	0	0	0	0	0	0	1	0	1	0	3	0	7	5	3	0	2	1	rs2281894	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:109810544C>A	ENST00000271332.3	+	17	6241	c.6180C>A	c.(6178-6180)cgC>cgA	p.R2060R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2060					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)		TGCTCCTGCGCAACGCCACGC	0.677													C|||	1131	0.225839	0.0537	0.2205	5008	,	,		18633	0.4206		0.1928	False		,,,				2504	0.2955				NSCLC(158;1285 2011 34800 34852 42084)	.											0								C		313,4093	152.9+/-186.6	17,279,1907	29	29	29		6180	0.1	1	1	dbSNP_100	29	1603,6997	272.4+/-290.1	169,1265,2866	no	coding-synonymous	CELSR2	NM_001408.2		186,1544,4773	AA,AC,CC		18.6395,7.1039,14.7317		2060/2924	109810544	1916,11090	2203	4300	6503	SO:0001819	synonymous_variant	1952			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.6180C>A	1.37:g.109810544C>A			Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.677	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109810544	C	A	109810544	2	1	24	1	0	0	0	0	0	0	0	1	3222	697	25	5		5	CELSR2	1	109810544	Silent	SNP	C	TCGA-KL-8346-01A-11D-2310-10	62124923	109810544	139440077	6	1781											
OR10K1	391109	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	158436256	158436256	+	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	ggaattcaaatcagccctacGaagaacaatcggccaaactt	16	7	7	11	2	2	1	2	0	0	1	3	3	2	2	2	2	4	0	2	2	7	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:158436256G>A	ENST00000289451.2	+	1	985	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCAGCCCTACGAAGAACAATC	0.373																																						.											0													95	92	93					1																	158436256		2203	4300	6503	SO:0001583	missense	391109			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.905G>A	1.37:g.158436256G>A	ENSP00000289451:p.Arg302Gln		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	10.79	1.449402	0.26074	.	.	ENSG00000173285	ENST00000289451	T	0.39406	1.08	4.24	-0.868	0.10652	.	1.305430	0.05653	N	0.585547	T	0.10809	0.0264	N	0.25957	0.775	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.28996	-1.0026	10	0.41790	T	0.15	.	5.2439	0.15487	0.4324:0.142:0.4256:0.0	.	302	Q8NGX5	O10K1_HUMAN	Q	302	ENSP00000289451:R302Q	ENSP00000289451:R302Q	R	+	2	0	OR10K1	156702880	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-0.882000	0.04174	-0.401000	0.07644	-0.232000	0.12228	CGA		0.373	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			A	158436256	G	A	158436256	3	1	24	1	0	0	0	0	1	0	0	0	10913	1058	37	1	907	1	OR10K1	1	158436256	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	48625712	158436256	90814365	7	1782											
SPTA1	6708	broad.mit.edu	37	chr1	158647558	158647558	+	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	tcagaggcaacaaggtctttGccatagtcctcagaggtgag	11	9	12	9	0	3	3	2	1	1	2	4	3	4	3	2	3	2	1	2	3	3	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:158647558G>T	ENST00000368147.4	-	7	1059	c.879C>A	c.(877-879)ggC>ggA	p.G293G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	293					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)					CAAGGTCTTTGCCATAGTCCT	0.468																																						.											0													115	110	112					1																	158647558		1975	4161	6136	SO:0001819	synonymous_variant	6708			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.879C>A	1.37:g.158647558G>T			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158647558	G	T	158647558	2	4	24	1	0	0	0	0	0	0	0	1	15115	1306	46	5		5	SPTA1	1	158647558	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	211302	158647558	90603063	8	1783											
ASPM	259266	hgsc.bcm.edu	37	chr1	197073057	197073057	+	Missense_Mutation	SNP	T	T	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	gaatgacaataattgctttaTacattttcagataatactgc	15	15	5	6	0	1	2	1	1	0	1	1	3	1	2	0	0	4	1	0	0	7	9			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:197073057T>C	ENST00000367409.4	-	18	5580	c.5324A>G	c.(5323-5325)tAt>tGt	p.Y1775C	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1775	IQ 7. {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						AATTGCTTTATACATTTTCAG	0.363																																						.											0													87	89	88					1																	197073057		2203	4298	6501	SO:0001583	missense	259266			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.5324A>G	1.37:g.197073057T>C	ENSP00000356379:p.Tyr1775Cys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	0.113	-1.136339	0.01742	.	.	ENSG00000066279	ENST00000367409	T	0.71698	-0.59	5.69	-1.82	0.07857	.	0.569487	0.18012	N	0.154506	T	0.52370	0.1730	L	0.28054	0.825	0.09310	N	1	B	0.24768	0.111	B	0.25884	0.064	T	0.31223	-0.9951	10	0.38643	T	0.18	.	9.3575	0.38175	0.0:0.2456:0.0912:0.6632	.	1775	Q8IZT6	ASPM_HUMAN	C	1775	ENSP00000356379:Y1775C	ENSP00000356379:Y1775C	Y	-	2	0	ASPM	195339680	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.723000	0.04952	-1.010000	0.03396	-1.463000	0.01021	TAT		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		C	197073057	T	C	197073057	3	2	24	1	0	0	0	0	1	0	0	0	1056	1406	49	4	5153	4	ASPM	1	197073057	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	38425499	197073057	52177564	9	1784											
USH2A	7399	ucsc.edu	37	chr1	215916578	215916578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggagtcaaattttccagaAgggtggattgatgatgacca	13	11	12	5	0	1	4	1	3	0	1	2	6	2	6	2	3	0	0	2	3	2	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:215916578A>G	ENST00000307340.3	-	59	11875	c.11489T>C	c.(11488-11490)cTt>cCt	p.L3830P	USH2A_ENST00000366943.2_Missense_Mutation_p.L3830P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3830	Fibronectin type-III 23. {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)		ATTTTCCAGAAGGGTGGATTG	0.433										HNSCC(13;0.011)																												.											0													142	136	138					1																	215916578		2203	4300	6503	SO:0001583	missense	7399			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.11489T>C	1.37:g.215916578A>G	ENSP00000305941:p.Leu3830Pro		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652460	0.29336	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57595	0.39;0.39	4.94	2.47	0.30058	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.870968	0.09479	N	0.796557	T	0.60457	0.2270	L	0.47716	1.5	0.18873	N	0.999988	D	0.61080	0.989	P	0.61070	0.883	T	0.46331	-0.9199	10	0.59425	D	0.04	.	7.8623	0.29517	0.7205:0.1387:0.0:0.1408	.	3830	O75445	USH2A_HUMAN	P	3830	ENSP00000305941:L3830P;ENSP00000355910:L3830P	ENSP00000305941:L3830P	L	-	2	0	USH2A	213983201	0.074000	0.21230	0.028000	0.17463	0.101000	0.19017	3.361000	0.52306	0.383000	0.24910	0.533000	0.62120	CTT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	215916578	A	G	215916578	3	3	24	1	0	0	0	0	1	0	0	0	17033	72	3	2	4175	2	USH2A	1	215916578	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	18843521	215916578	33334043	10	1785											
SLC4A5	57835	bcgsc.ca	37	chr2	74480132	74480132	+	Missense_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	agagggcaccttcttgggggGctcaatccggatatttgggt	7	11	15	8	1	2	1	1	0	1	1	3	2	3	2	2	6	0	2	2	6	2	4			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:74480132G>A	ENST00000377634.4	-	15	1636	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	SLC4A5_ENST00000357822.5_Missense_Mutation_p.P413S|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P413S|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P413S|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P413S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P349S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P413S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P349S|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCTTGGGGGGCTCAATCCGG	0.493																																						.											0													69	67	67					2																	74480132		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1237C>T	2.37:g.74480132G>A	ENSP00000366861:p.Pro413Ser			Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829499	0.90955	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.4	5.4	0.78164	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;0.997;1.0	D;D;D;D;D	0.91635	0.993;0.962;0.988;0.947;0.999	D	0.88751	0.3250	10	0.54805	T	0.06	.	16.7038	0.85366	0.0:0.0:1.0:0.0	.	413;413;349;413;413	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	S	413;413;413;349;413;349;413;413;413;413	ENSP00000377587:P413S;ENSP00000251768:P413S;ENSP00000352461:P349S;ENSP00000395804:P413S;ENSP00000351513:P349S;ENSP00000350475:P413S;ENSP00000366859:P413S;ENSP00000366861:P413S;ENSP00000405678:P413S	ENSP00000251768:P413S	P	-	1	0	SLC4A5	74333640	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.657000	0.98554	2.813000	0.96785	0.561000	0.74099	CCC		0.493	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			A	74480132	G	A	74480132	3	1	24	1	0	0	0	0	1	0	0	0	14657	1203	42	3	2244	3	SLC4A5	2	74480132	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10		74480132	168719241	11	1786											
STARD7	56910	broad.mit.edu	37	chr2	96861118	96861118	+	Missense_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	ggtgcctgtaattgggcgccGccacagcttaaagtgtttct	7	12	12	10	2	1	0	0	0	1	0	1	0	1	0	3	2	2	3	3	2	3	4			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:96861118G>A	ENST00000337288.5	-	2	843	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	154	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATTGGGCGCCGCCACAGCTTA	0.498																																						.											0													111	86	94					2																	96861118		2203	4299	6502	SO:0001583	missense	56910			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.460C>T	2.37:g.96861118G>A	ENSP00000338030:p.Arg154Trp		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417117	0.83449	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	T;T	0.27402	1.67;1.67	6.07	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.059719	0.64402	D	0.000001	T	0.58524	0.2128	M	0.87381	2.88	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.65919	-0.6051	10	0.87932	D	0	-23.6645	11.5932	0.50957	0.0:0.0:0.524:0.476	.	154	Q9NQZ5	STAR7_HUMAN	W	154;53	ENSP00000338030:R154W;ENSP00000409410:R53W	ENSP00000338030:R154W	R	-	1	2	STARD7	96224845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.193000	0.58385	1.567000	0.49668	-0.169000	0.13324	CGG		0.498	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			A	96861118	G	A	96861118	3	1	24	1	0	0	0	0	1	0	0	0	15261	1086	38	1	680	1	STARD7	2	96861118	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	22380986	96861118	146338255	12	1787											
IL1R2	7850	bcgsc.ca	37	chr2	102632493	102632493	+	Missense_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	tcacccgtgacaaaactgacGtgaagattcaatggtacaag	15	8	9	9	2	2	4	2	3	0	1	2	4	2	4	1	1	2	1	1	1	6	2	rs529315850		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:102632493G>A	ENST00000332549.3	+	4	722	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	IL1R2_ENST00000393414.2_Missense_Mutation_p.V165M|IL1R2_ENST00000441002.1_Missense_Mutation_p.V165M	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	165	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CAAAACTGACGTGAAGATTCA	0.373																																					Pancreas(106;189 1628 2302 5133 12295)	.											0													62	59	60					2																	102632493		2203	4300	6503	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.493G>A	2.37:g.102632493G>A	ENSP00000330959:p.Val165Met		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127830	0.37533	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.53	-11.1	0.00147	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.398540	0.04271	N	0.342070	T	0.49150	0.1540	N	0.11201	0.11	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.35992	-0.9766	10	0.33141	T	0.24	.	2.4708	0.04564	0.2547:0.3935:0.1081:0.2437	.	165	P27930	IL1R2_HUMAN	M	165	ENSP00000330959:V165M;ENSP00000377066:V165M;ENSP00000408415:V165M;ENSP00000414611:V165M	ENSP00000330959:V165M	V	+	1	0	IL1R2	101998925	0.000000	0.05858	0.000000	0.03702	0.983000	0.72400	-2.840000	0.00738	-2.238000	0.00712	-0.165000	0.13383	GTG		0.373	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		A	102632493	G	A	102632493	3	1	24	1	0	0	0	0	1	0	0	0	7659	1145	40	1	503	1	IL1R2	2	102632493	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	5771375	102632493	140566880	13	1788											
POTEE	445582	mdanderson.org	37	chr2	132021781	132021781	+	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	catcaaagagaagctgtgctAtgttgccctggacttcgagc	10	10	11	10	1	1	1	1	0	0	1	2	4	1	2	1	1	4	3	1	1	3	3	rs553548999	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:132021781A>T	ENST00000356920.5	+	15	2847	c.2753A>T	c.(2752-2754)tAt>tTt	p.Y918F	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	918	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAGCTGTGCTATGTTGCCCTG	0.592													.|||	2	0.000399361	0.0015	0	5008	,	,		40828	0		0	False		,,,				2504	0					.											0													88	96	94					2																	132021781		2202	4294	6496	SO:0001583	missense	445582			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.2753A>T	2.37:g.132021781A>T	ENSP00000439189:p.Tyr918Phe		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.742490	0.49151	.	.	ENSG00000188219	ENST00000356920	T	0.08984	3.03	.	.	.	.	.	.	.	.	T	0.09335	0.0230	M	0.75264	2.295	0.80722	D	1	B	0.33755	0.424	B	0.29524	0.103	T	0.09862	-1.0655	8	0.72032	D	0.01	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	918	Q6S8J3	POTEE_HUMAN	F	918	ENSP00000439189:Y918F	ENSP00000439189:Y918F	Y	+	2	0	AC131180.1	131738251	1.000000	0.71417	0.464000	0.27143	0.467000	0.32768	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	TAT		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		T	132021781	A	T	132021781	3	4	24	1	0	0	0	0	1	0	0	0	12264	449	16	5	2811	5	POTEE	2	132021781	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	29389288	132021781	111177592	14	1789											
TTN	7273	broad.mit.edu	37	chr2	179639167	179639167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattctggaacttctatgTcctgaagttctttcacaaac	11	15	6	9	0	4	2	1	2	3	0	5	3	5	3	1	1	2	1	1	1	4	5			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:179639167T>C	ENST00000591111.1	-	30	7048	c.6824A>G	c.(6823-6825)gAc>gGc	p.D2275G	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D2275G|TTN_ENST00000360870.5_Missense_Mutation_p.D2275G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D2229G|TTN_ENST00000589042.1_Missense_Mutation_p.D2275G|TTN_ENST00000359218.5_Missense_Mutation_p.D2229G|TTN_ENST00000460472.2_Missense_Mutation_p.D2229G|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12598	Ig-like 12.				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)			AACTTCTATGTCCTGAAGTTC	0.353																																						.											0													61	61	61					2																	179639167		2202	4300	6502	SO:0001583	missense	7273			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.6824A>G	2.37:g.179639167T>C	ENSP00000465570:p.Asp2275Gly		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	12.35	1.912454	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71091	0.3299	M	0.91768	3.24	0.29326	N	0.867009	P;P;P;P;D	0.65815	0.64;0.64;0.64;0.64;0.995	B;B;B;B;P	0.56163	0.334;0.334;0.334;0.334;0.793	T	0.74475	-0.3653	9	0.87932	D	0	.	15.7844	0.78291	0.0:0.0:0.0:1.0	.	2229;2229;2229;2275;2275	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	2275;2229;2229;2229;2229;2275	ENSP00000343764:D2275G;ENSP00000434586:D2229G;ENSP00000340554:D2229G;ENSP00000352154:D2229G;ENSP00000354117:D2275G	ENSP00000340554:D2229G	D	-	2	0	TTN	179347412	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.053000	0.64269	2.141000	0.66446	0.455000	0.32223	GAC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179639167	T	C	179639167	3	2	24	1	0	0	0	0	1	0	0	0	16732	1667	58	2	104496	2	TTN	2	179639167	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	47617386	179639167	63560206	15	1790											
RAF1	5894	broad.mit.edu	37	chr3	12660138	12660138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaactattgtaggagagAtgcagctggagccatcaaac	13	8	12	8	0	1	2	1	1	0	1	1	5	1	4	1	2	5	4	1	2	4	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:12660138A>G	ENST00000251849.4	-	2	522	c.83T>C	c.(82-84)aTc>aCc	p.I28T	RAF1_ENST00000542177.1_5'UTR|RAF1_ENST00000442415.2_Missense_Mutation_p.I28T	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	28					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)	TGTAGGAGAGATGCAGCTGGA	0.463			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													.		Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													129	116	120					3																	12660138		2203	4300	6503	SO:0001583	missense	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	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.83T>C	3.37:g.12660138A>G	ENSP00000251849:p.Ile28Thr		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.264954	0.59431	.	.	ENSG00000132155	ENST00000251849;ENST00000442415	T;T	0.75050	-0.9;-0.9	6.03	4.87	0.63330	.	0.155554	0.56097	N	0.000021	T	0.58438	0.2122	N	0.14661	0.345	0.80722	D	1	B	0.23937	0.094	B	0.16722	0.016	T	0.56823	-0.7915	10	0.72032	D	0.01	.	12.0181	0.53326	0.9329:0.0:0.0671:0.0	.	28	P04049	RAF1_HUMAN	T	28	ENSP00000251849:I28T;ENSP00000401888:I28T	ENSP00000251849:I28T	I	-	2	0	RAF1	12635138	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.751000	0.68720	1.099000	0.41499	0.533000	0.62120	ATC		0.463	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		G	12660138	A	G	12660138	3	3	24	1	0	0	0	0	1	0	0	0	13002	333	12	4	1927	4	RAF1	3	12660138	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		12660138	185362292	16	1791											
TBC1D5	9779	broad.mit.edu	37	chr3	17415993	17415993	+	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	tcatgctcaaaagttgaaaaCcaaggttcagcagtttccat	14	11	7	9	0	3	1	3	1	0	0	4	1	4	1	2	1	3	5	2	1	5	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:17415993C>T	ENST00000253692.7	-	12	2456	c.792G>A	c.(790-792)tgG>tgA	p.W264*	TBC1D5_ENST00000429924.2_Nonsense_Mutation_p.W216*|TBC1D5_ENST00000446818.2_Nonsense_Mutation_p.W264*|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Nonsense_Mutation_p.W264*	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	264	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAGTTGAAAACCAAGGTTCAG	0.299																																						.											0													66	66	66					3																	17415993		2202	4296	6498	SO:0001587	stop_gained	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.792G>A	3.37:g.17415993C>T	ENSP00000253692:p.Trp264*		A6NP25|C9JP52	Nonsense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	38	7.260140	0.98171	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9065	19.6391	0.95749	0.0:1.0:0.0:0.0	.	.	.	.	X	264;264;264;216	.	ENSP00000253692:W264X	W	-	3	0	TBC1D5	17390997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.344000	0.79328	2.715000	0.92844	0.655000	0.94253	TGG		0.299	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		T	17415993	C	T	17415993	4	4	24	1	0	0	0	0	0	1	0	0	15620	508	18	3	1709	3	TBC1D5	3	17415993	Nonsense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	4755855	17415993	180606437	17	1792											
TOP2B	7155	broad.mit.edu;hgsc.bcm.edu	37	chr3	25647566	25647570	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-																															tctgagaatatgaaggaaatGagaagagatttccaaaatcc																										TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	GAGAA	GAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:25647566_25647570delGAGAA	ENST00000264331.4	-	32	4341_4345	c.4342_4346delTTCTC	c.(4342-4347)ttctcafs	p.FS1448fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.FS300fs|TOP2B_ENST00000435706.2_Frame_Shift_Del_p.FS1443fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.FS300fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1448					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGAAGGAAATGAGAAGAGATTTCCA	0.298																																						.											0																																										SO:0001589	frameshift_variant	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4342_4346delTTCTC	3.37:g.25647566_25647570delGAGAA	ENSP00000264331:p.Phe1448fs		Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37																																																																																					0.298	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				-	25647570	GAGAA	-	25647566	7	5	24	1	0	1	0	1	0	0	0	0	16363	1294	45	0	554	0	TOP2B	3	25647566	Frame_Shift_Del	DEL	GAGAA	TCGA-KL-8346-01A-11D-2310-10	8231573	25647566	172374864	18	1793	50	2									
TOP2B	7155	bcgsc.ca	37	chr3	25647567	25647571	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-																															ctgagaatatgaaggaaatgAgaagagatttccaaaatcct																										TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	GAGAA	GAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:25647567_25647571delGAGAA	ENST00000264331.4	-	32	4340_4344	c.4341_4345delTTCTC	c.(4339-4347)ctttctccafs	p.SP1448fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.SP300fs|TOP2B_ENST00000435706.2_Frame_Shift_Del_p.SP1443fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.SP300fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1448					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GAAGGAAATGAGAAGAGATTTCCAA	0.302																																						.											0																																										SO:0001589	frameshift_variant	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4341_4345delTTCTC	3.37:g.25647567_25647571delGAGAA	ENSP00000264331:p.Ser1448fs		Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37																																																																																					0.302	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				-	25647571	GAGAA	-	25647567	7	5	24	1	0	1	0	1	0	0	0	0	16363	304	11	0	555	0	TOP2B	3	25647567	Frame_Shift_Del	DEL	GAGAA	TCGA-KL-8346-01A-11D-2310-10	1	25647567	172374863	19	1794	50	2									
ZNF35	7584	broad.mit.edu	37	chr3	44700856	44700856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacattacggaaaaatgctAtgaatgtaatgaatgtggga	16	10	10	5	1	0	2	0	2	0	0	0	4	0	4	1	2	2	2	1	2	7	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:44700856A>G	ENST00000396056.2	+	4	1236	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ZNF35_ENST00000542250.1_Missense_Mutation_p.Y174C|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	334					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)		GAAAAATGCTATGAATGTAAT	0.423																																						.											0													52	55	54					3																	44700856		2203	4300	6503	SO:0001583	missense	7584			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.1001A>G	3.37:g.44700856A>G	ENSP00000379368:p.Tyr334Cys		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	A	15.11	2.737589	0.49045	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.61392	0.11;0.11	5.1	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42172	D	0.000754	T	0.74306	0.3699	M	0.83774	2.66	0.38106	D	0.937407	D	0.89917	1.0	D	0.91635	0.999	T	0.79090	-0.1946	10	0.72032	D	0.01	-17.2776	9.3454	0.38104	0.7633:0.0:0.0:0.2367	.	334	P13682	ZNF35_HUMAN	C	334;174	ENSP00000379368:Y334C;ENSP00000443714:Y174C	ENSP00000379368:Y334C	Y	+	2	0	ZNF35	44675860	0.057000	0.20700	1.000000	0.80357	0.994000	0.84299	0.716000	0.25836	2.279000	0.76181	0.533000	0.62120	TAT		0.423	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		G	44700856	A	G	44700856	3	3	24	1	0	0	0	0	1	0	0	0	17859	449	16	4	1011	4	ZNF35	3	44700856	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	19053289	44700856	153321574	20	1795											
CHRD	8646	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	184100469	184100469	+	Missense_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	aaggccccccacagcagggcGtagggggcatcaccctgctc	8	4	13	16	1	1	0	1	0	0	0	2	0	1	0	4	4	2	4	4	4	2	1	rs375530942		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:184100469G>A	ENST00000204604.1	+	8	1135	c.889G>A	c.(889-891)Gta>Ata	p.V297I	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.V297I|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.V297I	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	297	CHRD 2. {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)			ACAGCAGGGCGTAGGGGGCAT	0.597																																						.											0								G	ILE/VAL	0,4406		0,0,2203	67	73	71		889	0	0	3		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRD	NM_003741.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	297/956	184100469	1,13005	2203	4300	6503	SO:0001583	missense	8646			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.889G>A	3.37:g.184100469G>A	ENSP00000204604:p.Val297Ile		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	2.523	-0.310254	0.05458	0.0	1.16E-4	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.43688	0.94;0.94;0.94	5.01	0.0114	0.14087	CHRD (3);	0.610960	0.17266	N	0.180562	T	0.26268	0.0641	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.11235	0.0;0.004	B;B	0.12156	0.005;0.007	T	0.17930	-1.0353	10	0.29301	T	0.29	3.3703	11.1063	0.48205	0.426:0.0:0.574:0.0	.	297;297	E7ESX1;Q9H2X0	.;CHRD_HUMAN	I	297	ENSP00000204604:V297I;ENSP00000408972:V297I;ENSP00000334036:V297I	ENSP00000204604:V297I	V	+	1	0	CHRD	185583163	0.000000	0.05858	0.005000	0.12908	0.270000	0.26580	1.059000	0.30517	-0.084000	0.12595	-1.119000	0.02030	GTA		0.597	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		A	184100469	G	A	184100469	3	1	24	1	0	0	0	0	1	0	0	0	3372	1145	40	1	919	1	CHRD	3	184100469	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	139399613	184100469	13921961	21	1796											
CRIPAK	285464	mdanderson.org	37	chr4	1388524	1388524	+	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	cgtgtccatgtggagtgcccAcctgctcatgtgcccatgtg	5	11	12	13	1	1	0	1	0	0	0	2	1	2	1	4	1	3	1	4	1	0	0	rs55944930	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:1388524A>G	ENST00000324803.4	+	1	3185	c.225A>G	c.(223-225)ccA>ccG	p.P75P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	75					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCACCTGCTCATG	0.642																																						.											0													287	247	260					4																	1388524		2203	4300	6503	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.225A>G	4.37:g.1388524A>G			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.642	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388524	A	G	1388524	2	3	24	1	0	0	0	0	0	0	0	1	3877	146	6	2		2	CRIPAK	4	1388524	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10		1388524	189765752	22	1797											
PDS5A	23244	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr4	39839775	39839775	+	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	gctgctgttactgttcttttCtttcctcggtcactgctgat	3	19	8	11	1	3	1	1	1	2	0	5	1	4	1	1	1	3	5	1	1	1	5			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:39839775C>G	ENST00000303538.8	-	32	4250	c.3711G>C	c.(3709-3711)aaG>aaC	p.K1237N		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						CTGTTCTTTTCTTTCCTCGGT	0.413																																						.											0													96	92	93					4																	39839775		1916	4133	6049	SO:0001583	missense	23244			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.3711G>C	4.37:g.39839775C>G	ENSP00000303427:p.Lys1237Asn			Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959276	0.74016	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.34	5.34	0.76211	.	0.320684	0.33309	N	0.005051	T	0.35595	0.0937	N	0.19112	0.55	0.80722	D	1	B	0.32829	0.386	B	0.31101	0.124	T	0.18272	-1.0342	8	.	.	.	-15.6347	12.8297	0.57738	0.0:0.9147:0.0:0.0852	.	1237	Q29RF7	PDS5A_HUMAN	N	1237	.	.	K	-	3	2	PDS5A	39516170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.314000	0.33597	2.502000	0.84385	0.655000	0.94253	AAG		0.413	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		G	39839775	C	G	39839775	3	3	24	1	0	0	0	0	1	0	0	0	11691	912	32	5	310	5	PDS5A	4	39839775	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	38451251	39839775	151314501	23	1798											
PPM1K	152926	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	89199470	89199470	+	Missense_Mutation	SNP	T	T	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	ccacattttccaagctgattTtgggaattggcttgccatac	9	14	8	10	0	0	1	0	1	0	0	1	2	1	2	3	2	3	2	3	2	3	7			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:89199470T>C	ENST00000608933.1	-	2	655	c.266A>G	c.(265-267)aAa>aGa	p.K89R	PPM1K_ENST00000315194.4_Missense_Mutation_p.K89R|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000295908.7_Missense_Mutation_p.K89R|PPM1K_ENST00000514204.1_Missense_Mutation_p.K89R	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	89					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CAAGCTGATTTTGGGAATTGG	0.498																																						.											0													81	78	79					4																	89199470		2203	4300	6503	SO:0001583	missense	152926			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	25415	protein-coding gene	gene with protein product	"PP2C-type mitochondrial phosphoprotein phosphatase", "protein phosphatase 2C kappa", "branched-chain &#945;-ketoacid dehydrogenase phosphatase"	611065	"protein phosphatase 1K (PP2C domain containing)"			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.266A>G	4.37:g.89199470T>C	ENSP00000477341:p.Lys89Arg		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386776	0.42308	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.09350	2.99;2.99;2.99	4.39	4.39	0.52855	Protein phosphatase 2C-like (2);	0.165528	0.52532	D	0.000067	T	0.07369	0.0186	N	0.25890	0.77	0.47819	D	0.999524	B;B;B	0.21147	0.052;0.001;0.002	B;B;B	0.16289	0.015;0.004;0.002	T	0.24728	-1.0152	10	0.33940	T	0.23	-13.4347	7.8514	0.29457	0.0:0.0948:0.0:0.9052	.	89;89;89	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	R	89	ENSP00000295908:K89R;ENSP00000424155:K89R;ENSP00000324761:K89R	ENSP00000295908:K89R	K	-	2	0	PPM1K	89418494	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.083000	0.71326	1.984000	0.57885	0.260000	0.18958	AAA		0.498	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		C	89199470	T	C	89199470	3	2	24	1	0	0	0	0	1	0	0	0	12343	1841	64	4	876	4	PPM1K	4	89199470	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	49359695	89199470	101954806	24	1799											
ANK2	287	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr4	114290874	114290874	+	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	cacagagaggagagctctccGcggaaaaccagcctcgtaat	13	5	11	12	3	1	2	0	0	1	2	3	5	1	3	3	2	3	2	3	2	3	1	rs143290935		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:114290874G>A	ENST00000357077.4	+	43	11576	c.11523G>A	c.(11521-11523)ccG>ccA	p.P3841P	ANK2_ENST00000394537.3_Silent_p.P1756P|ANK2_ENST00000506722.1_Silent_p.P1747P|ANK2_ENST00000509550.1_Silent_p.P932P|ANK2_ENST00000510275.2_Silent_p.P408P|ANK2_ENST00000264366.6_Silent_p.P3808P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3841					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)		AGAGCTCTCCGCGGAAAACCA	0.532																																						.											0								G	,,	1,4405	2.1+/-5.4	0,1,2202	78	71	73		5241,11523,5268	-10.7	0	4	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	1747/1864,3841/3958,1756/1873	114290874	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	287			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.11523G>A	4.37:g.114290874G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057433	0.07317	2.27E-4	0.0	ENSG00000145362	ENST00000514960	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.22446	N	0.999094	.	.	.	.	.	.	T	0.06006	-1.0851	4	.	.	.	.	2.4666	0.04554	0.2618:0.2678:0.3197:0.1507	.	.	.	.	T	758	.	.	A	+	1	0	ANK2	114510323	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.816000	0.01720	-4.027000	0.00080	-2.218000	0.00297	GCG		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114290874	G	A	114290874	2	1	24	1	0	0	0	0	0	0	0	1	621	1074	38	1		1	ANK2	4	114290874	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	25091404	114290874	76863402	25	1800											
PCDHA9	9752	mdanderson.org	37	chr5	140228473	140228473	+	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	gacattaacgacaaccctccAgtgttcccagcgacacaaaa	15	6	6	14	2	0	0	0	0	0	0	2	3	2	0	3	0	3	1	3	0	4	2	rs364063		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr5:140228473A>G	ENST00000532602.1	+	1	1426	c.393A>G	c.(391-393)ccA>ccG	p.P131P	PCDHA9_ENST00000378122.3_Silent_p.P131P|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|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)			ACAACCCTCCAGTGTTCCCAG	0.572																																					Melanoma(55;1800 1972 14909)	.											0													124	109	114					5																	140228473		2197	4265	6462	SO:0001819	synonymous_variant	9752			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.393A>G	5.37:g.140228473A>G			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.572	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		G	140228473	A	G	140228473	2	3	24	1	0	0	0	0	0	0	0	1	11531	175	7	2		2	PCDHA9	5	140228473	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10		140228473	40686787	26	1801											
ATP10B	23120	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	160044894	160044894	+	Missense_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	cttggcaatgcatagtgtgcGcaggccatctcttgcataca	9	11	10	11	1	1	0	0	0	1	0	2	0	1	0	1	2	4	4	1	2	3	4			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr5:160044894G>A	ENST00000327245.5	-	16	3349	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	835					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)			CATAGTGTGCGCAGGCCATCT	0.423																																						.											0													161	155	157					5																	160044894		1876	4106	5982	SO:0001583	missense	23120			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.2503C>T	5.37:g.160044894G>A	ENSP00000313600:p.Arg835Cys		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076744	0.55753	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.87491	-2.26;-2.26	5.06	2.9	0.33743	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	0.95576	0.8562	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96374	0.9276	9	.	.	.	.	12.6608	0.56813	0.0:0.0:0.573:0.427	.	443;835	Q2YDW8;O94823	.;AT10B_HUMAN	C	835;443	ENSP00000313600:R835C;ENSP00000431081:R443C	.	R	-	1	0	ATP10B	159977472	0.987000	0.35691	0.359000	0.25824	0.612000	0.37316	1.931000	0.40134	1.225000	0.43566	0.650000	0.86243	CGC		0.423	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160044894	G	A	160044894	3	1	24	1	0	0	0	0	1	0	0	0	1117	1087	38	1	1926	1	ATP10B	5	160044894	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	19816421	160044894	20870366	27	1802											
C6orf145	221749	ucsc.edu	37	chr6	3751696	3751696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacgatgagcctgcggaTgccgttcacccagcagccgc	7	6	13	15	4	1	2	1	2	0	0	1	4	1	3	4	1	5	3	4	1	0	1			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:3751696T>C	ENST00000380283.4	-	1	564	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	PXDC1_ENST00000477592.2_5'UTR|RP11-420L9.5_ENST00000603791.1_RNA	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	24	PX.						phosphatidylinositol binding (GO:0035091)										AGCCTGCGGATGCCGTTCACC	0.677																																						.											0													15	14	14					6																	3751696		2155	4226	6381	SO:0001583	missense	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 145"	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.70A>G	6.37:g.3751696T>C	ENSP00000369636:p.Ile24Val		A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885704	0.51908	.	.	ENSG00000168994	ENST00000380283	T	0.68765	-0.35	3.74	2.57	0.30868	Phox homologous domain (1);	0.113419	0.64402	N	0.000018	T	0.39627	0.1085	L	0.57536	1.79	0.49213	D	0.999761	B	0.02656	0.0	B	0.10450	0.005	T	0.25363	-1.0134	10	0.19590	T	0.45	-14.2727	8.9994	0.36072	0.0:0.0905:0.0:0.9095	.	24	Q5TGL8	CF145_HUMAN	V	24	ENSP00000369636:I24V	ENSP00000369636:I24V	I	-	1	0	C6orf145	3696695	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.452000	0.44961	0.464000	0.27142	0.372000	0.22366	ATC		0.677	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		C	3751696	T	C	3751696	3	2	24	1	0	0	0	0	1	0	0	0	2334	1464	51	4	645	4	C6orf145	6	3751696	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10		3751696	167363371	28	1803											
FAM65B	9750	ucsc.edu	37	chr6	24825517	24825517	+	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	agcgtcacagcctcactaacTtcgttgtcctctctggttaa	8	13	7	13	2	3	0	2	0	1	0	6	0	4	0	2	1	3	2	2	1	2	4			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:24825517T>C	ENST00000259698.4	-	20	3043	c.2868A>G	c.(2866-2868)gaA>gaG	p.E956E	FAM65B_ENST00000538035.1_Silent_p.E935E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	956					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CCTCACTAACTTCGTTGTCCT	0.502																																						.											0													161	130	140					6																	24825517		692	1591	2283	SO:0001819	synonymous_variant	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2868A>G	6.37:g.24825517T>C			A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	CCDS47383.1																																																																																				0.502	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			C	24825517	T	C	24825517	2	2	24	1	0	0	0	0	0	0	0	1	5600	1606	56	2		2	FAM65B	6	24825517	Silent	SNP	T	TCGA-KL-8346-01A-11D-2310-10	21073821	24825517	146289550	29	1804											
TNXB	7146	broad.mit.edu	37	chr6	31977381	31977381	+	5'Flank	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccagaagtctgtctgTccatccatgcggcgctggaa	7	10	10	14	2	2	1	0	0	2	1	6	2	6	2	4	2	1	1	4	2	2	0			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:31977381T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							AGTCTGTCTGTCCATCCATGC	0.622																																						.											0																																										SO:0001631	upstream_gene_variant	7148																															6.37:g.31977381T>C	Exception_encountered			RNA	SNP	ENST00000594256.1	37																																																																																					0.622	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				C	31977381	T	C	31977381	1	2	24	0	1	0	0	0	0	0	0	0	16343	1654	58	2		2	TNXB	6	31977381	5'Flank	SNP	T	TCGA-KL-8346-01A-11D-2310-10	7151864	31977381	139137686	30	1805											
RADIL	55698	bcgsc.ca	37	chr7	4917349	4917349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccataattcctggatcaagAggggcttctcactgtcccca	9	11	8	13	0	2	1	2	0	1	1	6	2	5	2	4	3	0	1	4	3	2	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:4917349A>G	ENST00000399583.3	-	2	609	c.422T>C	c.(421-423)cTc>cCc	p.L141P	RADIL_ENST00000536091.1_Missense_Mutation_p.L141P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	141	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGGATCAAGAGGGGCTTCTC	0.617																																						.											0													60	67	65					7																	4917349		1940	4139	6079	SO:0001583	missense	55698			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.422T>C	7.37:g.4917349A>G	ENSP00000382492:p.Leu141Pro		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224795	0.79576	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.26957	1.7;1.7	5.84	5.84	0.93424	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65170	-0.6233	10	0.87932	D	0	-47.2017	15.3975	0.74808	1.0:0.0:0.0:0.0	.	141	Q96JH8	RADIL_HUMAN	P	141;115;141	ENSP00000382492:L141P;ENSP00000442533:L141P	ENSP00000320946:L115P	L	-	2	0	RADIL	4883875	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	8.943000	0.92975	2.235000	0.73313	0.459000	0.35465	CTC		0.617	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		G	4917349	A	G	4917349	3	3	24	1	0	0	0	0	1	0	0	0	12997	304	11	2	2861	2	RADIL	7	4917349	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		4917349	154221314	31	1806											
WBSCR27	155368	hgsc.bcm.edu	37	chr7	73254452	73254455	+	Splice_Site	DEL	TGTG	TGTG	-																															agcaccgcgtcgaaggtcccTgtgtgtgtgtgggggggggt																								rs375025208		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	TGTG	TGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:73254452_73254455delTGTG	ENST00000297873.4	-	5	438		c.e5-2			NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27											NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CGAAGGTCCCTGTGTGTGTGTGGG	0.608																																						.											0																																										SO:0001630	splice_region_variant	155368			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.389-2CACA>-	7.37:g.73254460_73254463delTGTG				Splice_Site	DEL	ENST00000297873.4	37	CCDS5561.1																																																																																				0.608	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559	Intron	-	73254455	TGTG	-	73254452	8	5	24	1	0	1	0	1	0	0	1	0	17263	1594	55	0	358	0	WBSCR27	7	73254452	Splice_Site	DEL	TGTG	TCGA-KL-8346-01A-11D-2310-10	68337103	73254452	85884211	32	1807											
PRSS1	5644	mdanderson.org	37	chr7	142459667	142459667	+	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	gagcacaacatcgaagtcctGgaggggaatgagcagttcat	13	7	13	8	1	1	1	1	1	0	0	3	5	2	3	1	3	3	3	1	3	3	1	rs142476093		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:142459667G>A	ENST00000311737.7	+	3	249	c.243G>A	c.(241-243)ctG>ctA	p.L81L	PRSS1_ENST00000486171.1_Silent_p.L95L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCGAAGTCCTGGAGGGGAATG	0.542																																						.											0													213	200	204					7																	142459667		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.243G>A	7.37:g.142459667G>A			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.542	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142459667	G	A	142459667	2	1	24	1	0	0	0	0	0	0	0	1	12614	1335	47	4		4	PRSS1	7	142459667	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	69205215	142459667	16678996	33	1808											
ADRA1A	148	broad.mit.edu	37	chr8	26722373	26722373	+	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	atgttacccagcaccccgaaAagaatgaggccccccaagat	14	5	8	14	1	0	3	0	1	0	2	0	4	0	3	6	1	2	2	6	1	5	1			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr8:26722373A>C	ENST00000519229.1	-	1	120	c.114T>G	c.(112-114)ctT>ctG	p.L38L	ADRA1A_ENST00000380581.2_Silent_p.L38L|ADRA1A_ENST00000380573.3_Silent_p.L38L|ADRA1A_ENST00000276393.4_Silent_p.L38L|ADRA1A_ENST00000380587.1_Silent_p.L38L|ADRA1A_ENST00000358857.5_Silent_p.L38L|ADRA1A_ENST00000354550.4_Silent_p.L38L|ADRA1A_ENST00000380586.1_Silent_p.L38L|ADRA1A_ENST00000380582.3_Silent_p.L38L|ADRA1A_ENST00000380572.3_Silent_p.L38L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	108				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (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)			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)	GCACCCCGAAAAGAATGAGGC	0.592																																						.											0													192	214	207					8																	26722373		2203	4300	6503	SO:0001819	synonymous_variant	148			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.114T>G	8.37:g.26722373A>C			Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																					0.592	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		C	26722373	A	C	26722373	2	2	24	1	0	0	0	0	0	0	0	1	334	1	1	5		5	ADRA1A	8	26722373	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10		26722373	119641649	34	1809											
KCNV1	27012	broad.mit.edu	37	chr8	110980349	110980349	+	Missense_Mutation	SNP	T	T	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	atcatctcccccgctgctccTagtacttgctctttctctgc	4	15	5	17	1	4	0	1	0	3	0	7	0	5	0	3	0	4	4	3	0	2	4			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr8:110980349T>C	ENST00000524391.1	-	4	2503	c.1471A>G	c.(1471-1473)Agg>Ggg	p.R491G	KCNV1_ENST00000297404.1_Missense_Mutation_p.R491G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	491					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)			CCGCTGCTCCTAGTACTTGCT	0.378																																						.											0													72	69	70					8																	110980349		2203	4300	6503	SO:0001583	missense	27012			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.1471A>G	8.37:g.110980349T>C	ENSP00000435954:p.Arg491Gly		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334246	0.60853	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97850	-4.57;-4.57	5.4	4.21	0.49690	.	0.196595	0.43919	D	0.000513	D	0.96442	0.8839	N	0.24115	0.695	0.50813	D	0.999896	D	0.54601	0.967	P	0.60789	0.879	D	0.94623	0.7815	10	0.31617	T	0.26	.	11.6047	0.51024	0.0:0.0:0.1493:0.8507	.	491	Q6PIU1	KCNV1_HUMAN	G	491;491;367	ENSP00000435954:R491G;ENSP00000297404:R491G	ENSP00000297404:R491G	R	-	1	2	KCNV1	111049525	0.963000	0.33076	0.982000	0.44146	0.822000	0.46500	1.880000	0.39628	0.842000	0.35045	0.460000	0.39030	AGG		0.378	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		C	110980349	T	C	110980349	3	2	24	1	0	0	0	0	1	0	0	0	8094	1521	53	2	35	2	KCNV1	8	110980349	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	84257976	110980349	35383673	35	1810											
GDA	9615	ucsc.edu;bcgsc.ca	37	chr9	74842929	74842929	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaacgaggagcatccaTcgcacactgtcccaattcta	12	8	7	14	2	1	1	0	1	1	0	4	3	3	2	3	1	2	2	3	1	3	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr9:74842929T>C	ENST00000358399.3	+	9	986	c.893T>C	c.(892-894)aTc>aCc	p.I298T	GDA_ENST00000376989.3_Missense_Mutation_p.I237T|GDA_ENST00000376986.1_Missense_Mutation_p.I220T|GDA_ENST00000238018.4_Missense_Mutation_p.I298T|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.I224T	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	298					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|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)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGCATCCATCGCACACTGT	0.453																																						.											0													135	105	115					9																	74842929		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.893T>C	9.37:g.74842929T>C	ENSP00000351170:p.Ile298Thr		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903144	0.72754	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671;ENST00000436438	D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.51	5.51	0.81932	Amidohydrolase 1 (1);	0.120479	0.64402	D	0.000015	D	0.96228	0.8770	M	0.93898	3.47	0.47621	D	0.99947	D;D;D	0.65815	0.976;0.994;0.995	D;D;D	0.70487	0.952;0.948;0.969	D	0.97056	0.9767	10	0.87932	D	0	-7.2766	13.4407	0.61112	0.0:0.0:0.0:1.0	.	220;298;298	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	T	224;298;237;220;298;164;6	ENSP00000437972:I224T;ENSP00000238018:I298T;ENSP00000366188:I237T;ENSP00000366185:I220T;ENSP00000351170:I298T;ENSP00000403897:I164T;ENSP00000400857:I6T	ENSP00000238018:I298T	I	+	2	0	GDA	74032749	0.999000	0.42202	0.668000	0.29813	0.942000	0.58702	5.576000	0.67437	2.210000	0.71456	0.533000	0.62120	ATC		0.453	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			C	74842929	T	C	74842929	3	2	24	1	0	0	0	0	1	0	0	0	6306	1435	50	4	927	4	GDA	9	74842929	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10		74842929	66370502	36	1811											
DUPD1	338599	mdanderson.org;bcgsc.ca	37	chr10	76803567	76803567	+	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	tctcttactgtggtcgtcgcTtagcgctctgtcgatgaagg	5	14	12	10	4	2	1	0	1	2	0	6	2	2	1	0	2	2	2	0	2	3	2	rs16931938	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:76803567T>G	ENST00000338487.5	-	2	408	c.409A>C	c.(409-411)Agc>Cgc	p.S137R		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	137	Tyrosine-protein phosphatase.		S -> R (in dbSNP:rs16931938).		protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGGTCGTCGCTTAGCGCTCTG	0.706													G|||	1507	0.300919	0.6543	0.2061	5008	,	,		6796	0.2738		0.0457	False		,,,				2504	0.181					.											0								G	ARG/SER	2448,1958	550.5+/-378.0	702,1044,457	67	60	62		409	-1.6	0	10	dbSNP_123	62	425,8175	797.7+/-407.4	11,403,3886	yes	missense	DUPD1	NM_001003892.1	110	713,1447,4343	GG,GT,TT		4.9419,44.4394,22.0898	benign	137/221	76803567	2873,10133	2203	4300	6503	SO:0001583	missense	338599				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.409A>C	10.37:g.76803567T>G	ENSP00000340609:p.Ser137Arg		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	CCDS31223.1	608	0.2783882783882784	335	0.6808943089430894	71	0.19613259668508287	171	0.29895104895104896	31	0.040897097625329816	G	10.15	1.270877	0.23221	0.555606	0.049419	ENSG00000188716	ENST00000338487	T	0.61392	0.11	4.63	-1.65	0.08291	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.810313	0.11263	N	0.582345	T	0.00012	0.0000	L	0.48260	1.515	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.44967	-0.9293	9	0.23891	T	0.37	-0.524	13.1202	0.59321	0.0:0.0959:0.2121:0.692	rs16931938;rs52825920;rs16931938	137	Q68J44	DUPD1_HUMAN	R	137	ENSP00000340609:S137R	ENSP00000340609:S137R	S	-	1	0	DUPD1	76473573	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	-0.950000	0.03659	-0.847000	0.03039	AGC		0.706	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		G	76803567	T	G	76803567	3	3	24	1	0	0	0	0	1	0	0	0	4804	1609	56	5	261	5	DUPD1	10	76803567	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10		76803567	58731180	37	1812											
FAM35A	54537	broad.mit.edu	37	chr10	88911469	88911469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatataactagctctaatAtgcaaatatgtggatttaaa	16	14	7	4	0	1	1	0	1	1	0	1	2	1	2	0	1	3	2	0	1	9	8			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:88911469A>G	ENST00000298784.1	+	3	472	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	FAM35A_ENST00000298786.4_Missense_Mutation_p.M120V|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	120										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TAGCTCTAATATGCAAATATG	0.348																																					Ovarian(175;703 2004 25460 32514 43441)	.											0													34	36	35					10																	88911469		2200	4296	6496	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.358A>G	10.37:g.88911469A>G	ENSP00000298784:p.Met120Val		O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	a	4.716	0.133084	0.09032	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.20738	2.05;2.05;2.05	4.07	2.16	0.27623	.	1.188700	0.06644	N	0.761566	T	0.12561	0.0305	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	10	0.37606	T	0.19	0.3866	3.8289	0.08865	0.2118:0.0:0.5451:0.2432	.	120	Q86V20	FA35A_HUMAN	V	120	ENSP00000298786:M120V;ENSP00000298784:M120V;ENSP00000351064:M120V	ENSP00000298784:M120V	M	+	1	0	FAM35A	88901449	0.002000	0.14202	0.001000	0.08648	0.031000	0.12232	1.098000	0.31000	0.369000	0.24510	-0.540000	0.04249	ATG		0.348	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		G	88911469	A	G	88911469	3	3	24	1	0	0	0	0	1	0	0	0	5553	449	16	4	360	4	FAM35A	10	88911469	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	12107902	88911469	46623278	38	1813											
C10orf91	170393	ucsc.edu	37	chr10	134261475	134261475	+	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	cccgtggtagatcaagcctcAcaggcggctggaagagccag	10	5	14	12	2	2	2	2	0	0	2	2	3	2	3	3	4	2	2	3	4	3	1			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:134261475A>G	ENST00000392630.3	+	3	409	c.348A>G	c.(346-348)tcA>tcG	p.S116S	C10orf91_ENST00000321248.2_Silent_p.S116S	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	116										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		ATCAAGCCTCACAGGCGGCTG	0.672																																						.											0													49	63	58					10																	134261475		2202	4296	6498	SO:0001819	synonymous_variant	170393			BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.348A>G	10.37:g.134261475A>G			Q8N0T7	Silent	SNP	ENST00000392630.3	37	CCDS7668.1																																																																																				0.672	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		G	134261475	A	G	134261475	2	3	24	1	0	0	0	0	0	0	0	1	1624	146	6	2		2	C10orf91	10	134261475	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10	45350006	134261475	1273272	39	1814											
TPH1	7166	ucsc.edu	37	chr11	18044471	18044471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactttggcatgtccagaaAgtgcatgctagaagacaaag	14	10	10	7	0	0	3	0	0	0	3	1	3	1	3	1	1	3	3	1	1	5	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:18044471A>G	ENST00000250018.2	-	9	1596	c.1034T>C	c.(1033-1035)cTt>cCt	p.L345P	TPH1_ENST00000341556.2_Missense_Mutation_p.L345P|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	345					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)	ATGTCCAGAAAGTGCATGCTA	0.353																																						.											0													90	85	87					11																	18044471		2200	4293	6493	SO:0001583	missense	7166			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.1034T>C	11.37:g.18044471A>G	ENSP00000250018:p.Leu345Pro		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556082	0.86231	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99762	-6.67;-6.67	5.78	5.78	0.91487	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.96961	0.9701	10	0.87932	D	0	-26.648	16.1145	0.81295	1.0:0.0:0.0:0.0	.	345	P17752	TPH1_HUMAN	P	345	ENSP00000250018:L345P;ENSP00000343550:L345P	ENSP00000250018:L345P	L	-	2	0	TPH1	18001047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.205000	0.71048	0.454000	0.30748	CTT		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		G	18044471	A	G	18044471	3	3	24	1	0	0	0	0	1	0	0	0	16398	72	3	2	308	2	TPH1	11	18044471	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		18044471	116962045	40	1815											
C1QTNF4	114900	ucsc.edu	37	chr11	47612134	47612134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagccgtgaaggagaagaAgtaggcgccgggcacgcggc	10	2	18	11	5	0	3	0	1	0	2	0	4	0	3	3	4	1	2	3	4	4	1			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:47612134A>G	ENST00000302514.3	-	2	745	c.229T>C	c.(229-231)Ttc>Ctc	p.F77L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	77	C1q 1. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AAGGAGAAGAAGTAGGCGCCG	0.657																																						.											0													14	15	14					11																	47612134		2193	4284	6477	SO:0001583	missense	114900			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.229T>C	11.37:g.47612134A>G	ENSP00000302274:p.Phe77Leu		Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	37	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611294	0.66558	.	.	ENSG00000172247	ENST00000302514;ENST00000530097	T;T	0.74842	-0.88;-0.88	4.2	4.2	0.49525	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.149149	0.46442	U	0.000298	T	0.71745	0.3376	L	0.60904	1.88	0.35460	D	0.796458	B	0.29481	0.245	B	0.31946	0.138	T	0.79555	-0.1755	10	0.72032	D	0.01	.	13.5783	0.61888	1.0:0.0:0.0:0.0	.	77	Q9BXJ3	C1QT4_HUMAN	L	77	ENSP00000302274:F77L;ENSP00000434548:F77L	ENSP00000302274:F77L	F	-	1	0	C1QTNF4	47568710	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.332000	0.79203	1.687000	0.51057	0.254000	0.18369	TTC		0.657	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		G	47612134	A	G	47612134	3	3	24	1	0	0	0	0	1	0	0	0	1965	72	3	2	764	2	C1QTNF4	11	47612134	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10	29567663	47612134	87394382	41	1816											
CPSF7	79869	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	61183901	61183901	+	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	cactggggggcttatccacaCgagcagatgagggtacaagg	11	6	15	9	1	0	2	0	1	0	1	1	3	1	2	1	5	2	3	1	5	3	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:61183901C>T	ENST00000394888.4	-	6	813	c.641G>A	c.(640-642)cGt>cAt	p.R214H	CPSF7_ENST00000340437.4_Missense_Mutation_p.R257H|CPSF7_ENST00000448745.1_Missense_Mutation_p.R205H|CPSF7_ENST00000439958.3_Missense_Mutation_p.R205H	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	214					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTTATCCACACGAGCAGATGA	0.582																																						.											0													112	108	109					11																	61183901		2202	4299	6501	SO:0001583	missense	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.641G>A	11.37:g.61183901C>T	ENSP00000378352:p.Arg214His		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465019	0.63513	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585	.	.	.	5.14	4.23	0.50019	.	0.220163	0.39834	N	0.001242	T	0.40222	0.1108	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.15141	0.001;0.002;0.012;0.003	B;B;B;B	0.08055	0.001;0.0;0.003;0.001	T	0.18808	-1.0325	9	0.17369	T	0.5	-3.5682	11.7089	0.51614	0.0:0.9178:0.0:0.0822	.	205;214;257;205	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	H	257;214;205;205;205;205;205	.	ENSP00000345412:R257H	R	-	2	0	CPSF7	60940477	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.863000	0.69568	1.400000	0.46741	-0.136000	0.14681	CGT		0.582	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		T	61183901	C	T	61183901	3	4	24	1	0	0	0	0	1	0	0	0	3830	536	19	1	790	1	CPSF7	11	61183901	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	13571767	61183901	73822615	42	1817											
GDPD5	81544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	75152734	75152734	+	Missense_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	agtgtagcgcaggttcagccGctggatgtggcctctccgca	6	9	14	12	3	2	0	1	0	1	0	3	1	2	1	3	3	2	5	3	3	1	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:75152734G>A	ENST00000336898.3	-	13	2119	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	GDPD5_ENST00000526177.1_Missense_Mutation_p.R290W|GDPD5_ENST00000376282.3_Missense_Mutation_p.R309W|GDPD5_ENST00000533784.1_Missense_Mutation_p.R309W|GDPD5_ENST00000529721.1_Missense_Mutation_p.R428W|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.R183W	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	428	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGTTCAGCCGCTGGATGTGG	0.667																																						.											0													30	28	28					11																	75152734		2200	4292	6492	SO:0001583	missense	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1282C>T	11.37:g.75152734G>A	ENSP00000337972:p.Arg428Trp		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	16.14	3.040109	0.55003	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.14	-8.74	0.00838	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.925450	0.09262	N	0.826356	T	0.06371	0.0164	L	0.47190	1.495	0.53005	D	0.999964	B;B	0.20671	0.047;0.004	B;B	0.12156	0.007;0.0	T	0.32214	-0.9915	10	0.37606	T	0.19	-5.4375	2.1938	0.03906	0.4485:0.0881:0.1186:0.3448	.	309;428	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	W	290;309;428;428;183;309;12	ENSP00000434050:R290W;ENSP00000437049:R309W;ENSP00000433214:R428W;ENSP00000337972:R428W;ENSP00000435196:R183W;ENSP00000365459:R309W;ENSP00000435728:R12W	ENSP00000337972:R428W	R	-	1	2	GDPD5	74830382	0.015000	0.18098	0.823000	0.32752	0.972000	0.66771	-0.738000	0.04871	-1.260000	0.02465	0.552000	0.68991	CGG		0.667	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		A	75152734	G	A	75152734	3	1	24	1	0	0	0	0	1	0	0	0	6327	1086	38	1	555	1	GDPD5	11	75152734	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	13968833	75152734	59853782	43	1818											
CCDC82	79780	broad.mit.edu	37	chr11	96117896	96117896	+	Missense_Mutation	SNP	T	T	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	atttctccttgtttcatgtcTtctaacatgtatcattttca	8	21	3	9	0	6	0	3	0	3	0	7	0	6	0	1	0	1	2	1	0	2	8			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:96117896T>C	ENST00000278520.5	-	3	444	c.16A>G	c.(16-18)Aga>Gga	p.R6G	CCDC82_ENST00000542662.1_Missense_Mutation_p.R6G|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.R6G			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	6										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTTCATGTCTTCTAACATGT	0.333																																						.											0													47	46	46					11																	96117896		2197	4292	6489	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.16A>G	11.37:g.96117896T>C	ENSP00000278520:p.Arg6Gly		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694155	0.68386	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597;ENST00000530203	T;T;T;T	0.39997	1.4;1.4;1.4;1.05	5.31	4.18	0.49190	.	0.495798	0.20614	N	0.088919	T	0.57666	0.2069	M	0.68317	2.08	0.31516	N	0.663024	D;D	0.76494	0.999;0.997	D;P	0.69479	0.964;0.814	T	0.63651	-0.6589	10	0.62326	D	0.03	-16.8259	9.2464	0.37529	0.0:0.0835:0.0:0.9165	.	6;6	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	G	6	ENSP00000278520:R6G;ENSP00000444010:R6G;ENSP00000397156:R6G;ENSP00000442723:R6G	ENSP00000278520:R6G	R	-	1	2	CCDC82	95757544	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.939000	0.48995	2.132000	0.65825	0.533000	0.62120	AGA		0.333	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		C	96117896	T	C	96117896	3	2	24	1	0	0	0	0	1	0	0	0	2856	1617	56	2	1646	2	CCDC82	11	96117896	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	20965162	96117896	38888620	44	1819											
CACNA1C	775	mdanderson.org	37	chr12	2794937	2794937	+	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	tgacgaaaatcggcaactgaCgctcccagaggaggacaaga	15	4	12	10	3	0	4	0	2	0	2	2	7	1	6	1	3	1	2	1	3	4	0	rs201777030		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:2794937C>T	ENST00000347598.4	+	46	5753	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M	CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1898M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1911M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1876M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1895M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1890M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1887M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1953					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)	p.T1911M(1)|p.T1983M(1)|p.T1405M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			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)	CGGCAACTGACGCTCCCAGAG	0.582																																						.											3	Substitution - Missense(3)	skin(3)											49	49	49					12																	2794937		2012	4159	6171	SO:0001583	missense	775			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.5753C>T	12.37:g.2794937C>T	ENSP00000266376:p.Thr1918Met		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	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802724	0.50315	.	.	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	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.26	4.26	0.50523	.	29.029300	0.00550	N	0.000258	T	0.70133	0.3189	L	0.56769	1.78	0.34775	D	0.734153	P;P;D;P;P;D;D;P;P;D;P;D;P;P;D;P;P;B;P;P;D;P;P;D;D	0.65815	0.863;0.922;0.995;0.664;0.934;0.988;0.992;0.869;0.638;0.966;0.922;0.989;0.927;0.783;0.992;0.677;0.927;0.317;0.922;0.485;0.985;0.869;0.869;0.981;0.995	B;P;P;B;P;P;P;P;B;P;P;P;P;P;P;B;P;B;P;B;P;P;P;P;P	0.56916	0.238;0.595;0.809;0.146;0.756;0.647;0.795;0.595;0.282;0.553;0.595;0.736;0.521;0.595;0.65;0.391;0.521;0.299;0.595;0.229;0.542;0.595;0.595;0.46;0.809	T	0.60281	-0.7294	10	0.38643	T	0.18	.	16.9179	0.86156	0.0:1.0:0.0:0.0	.	561;1911;1867;1953;1905;1889;1870;1887;1898;1870;1890;1870;1901;1918;1870;1905;1941;1878;1876;1878;1859;1889;1889;1870;1870	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1895;1870;1870;1898;1870;1889;1889;1878;1870;1918;1890;1870;1911;1887;1905;1876;1889;1870;1941;1905;1941;1878;1771	ENSP00000336982:T1895M;ENSP00000382563:T1870M;ENSP00000382552:T1870M;ENSP00000382547:T1898M;ENSP00000382506:T1870M;ENSP00000382530:T1889M;ENSP00000382546:T1889M;ENSP00000382500:T1878M;ENSP00000382549:T1870M;ENSP00000266376:T1918M;ENSP00000382515:T1890M;ENSP00000382510:T1870M;ENSP00000341092:T1911M;ENSP00000382537:T1887M;ENSP00000329877:T1905M;ENSP00000382557:T1876M;ENSP00000385724:T1889M;ENSP00000382512:T1870M;ENSP00000382542:T1941M;ENSP00000382526:T1905M;ENSP00000385896:T1941M;ENSP00000382504:T1878M	ENSP00000323129:T1771M	T	+	2	0	CACNA1C	2665198	1.000000	0.71417	0.106000	0.21319	0.488000	0.33401	5.733000	0.68571	2.202000	0.70862	0.449000	0.29647	ACG		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2794937	C	T	2794937	3	4	24	1	0	0	0	0	1	0	0	0	2540	536	19	1	6492	1	CACNA1C	12	2794937	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10		2794937	131056958	45	1820											
ATN1	1822	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	7045495	7045495	+	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	ggcccaactctggctccttcAccccactctctgcctcctgc	4	10	6	21	0	3	0	1	0	2	0	6	0	5	0	6	2	3	1	6	2	1	1			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:7045495A>C	ENST00000356654.4	+	5	1302	c.1065A>C	c.(1063-1065)tcA>tcC	p.S355S	ATN1_ENST00000396684.2_Silent_p.S355S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	355					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						TGGCTCCTTCACCCCACTCTC	0.597																																						.											0													130	134	133					12																	7045495		2203	4300	6503	SO:0001819	synonymous_variant	1822			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.1065A>C	12.37:g.7045495A>C			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.597	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		C	7045495	A	C	7045495	2	2	24	1	0	0	0	0	0	0	0	1	1111	146	6	5		5	ATN1	12	7045495	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10	4250558	7045495	126806400	46	1821											
C1RL	51279	bcgsc.ca	37	chr12	7252316	7252316	+	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	agaacctcctccccatcctgTctgtctttccaggtccctgg	5	12	7	17	0	2	1	0	0	2	1	7	1	7	1	7	2	1	0	7	2	1	1	rs146214220		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:7252316T>C	ENST00000266542.4	-	5	749	c.657A>G	c.(655-657)agA>agG	p.R219R	C1RL_ENST00000544702.1_Missense_Mutation_p.D235G|C1RL_ENST00000504702.2_5'Flank|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	219					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCATCCTGTCTGTCTTTCC	0.552																																						.											0								T		0,4392		0,0,2196	77	55	62		657	-4.9	0	12	dbSNP_134	62	1,8589		0,1,4294	no	coding-synonymous	C1RL	NM_016546.2		0,1,6490	CC,CT,TT		0.0116,0.0,0.0077		219/488	7252316	1,12981	2196	4295	6491	SO:0001819	synonymous_variant	51279			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.657A>G	12.37:g.7252316T>C			Q53GX9	Silent	SNP	ENST00000266542.4	37	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688828	0.29962	0.0	1.16E-4	ENSG00000139178	ENST00000544702	T	0.36520	1.25	3.85	-4.92	0.03075	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.23976	-1.0173	7	.	.	.	.	1.1981	0.01879	0.1477:0.2867:0.3024:0.2632	.	235	F5GWF3	.	G	235	ENSP00000441885:D235G	.	D	-	2	0	C1RL	7143458	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.521000	0.06245	-1.021000	0.03350	0.374000	0.22700	GAC		0.552	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		C	7252316	T	C	7252316	2	2	24	1	0	0	0	0	0	0	0	1	1973	1664	58	2		2	C1RL	12	7252316	Silent	SNP	T	TCGA-KL-8346-01A-11D-2310-10	206821	7252316	126599579	47	1822											
PABPC3	5042	mdanderson.org	37	chr13	25670873	25670873	+	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	tttaagtctcgtaaagaacgAgaagctgaacttggagctag	14	10	11	6	2	1	3	0	1	1	2	2	5	1	4	0	1	4	3	0	1	7	5	rs77142265	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr13:25670873A>G	ENST00000281589.3	+	1	574	c.537A>G	c.(535-537)cgA>cgG	p.R179R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	179					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)		GTAAAGAACGAGAAGCTGAAC	0.408													a|||	274	0.0547125	0.0779	0.0591	5008	,	,		22193	0.0347		0.0318	False		,,,				2504	0.0644					.											0													103	96	98					13																	25670873		2203	4300	6503	SO:0001819	synonymous_variant	5042			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.537A>G	13.37:g.25670873A>G			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		G	25670873	A	G	25670873	2	3	24	1	0	0	0	0	0	0	0	1	11365	291	11	2		2	PABPC3	13	25670873	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10		25670873	89499005	48	1823											
SERPINA10	51156	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	94756470	94756470	+	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	tgaggcccagttccaggttgCgggagagggtctctctgagt	6	10	16	9	1	2	3	0	2	2	1	4	4	3	3	2	4	1	2	2	4	0	2	rs61761870	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr14:94756470C>T	ENST00000393096.1	-	2	926	c.461G>A	c.(460-462)cGc>cAc	p.R154H	SERPINA10_ENST00000554723.1_Missense_Mutation_p.R194H|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154H|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154H	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					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)		TTCCAGGTTGCGGGAGAGGGT	0.517													T|||	13	0.00259585	0.0098	0	5008	,	,		17508	0		0	False		,,,				2504	0					.											0								T	HIS/ARG,HIS/ARG	38,4368	800.4+/-415.6	1,36,2166	55	62	60		461,461	-7.7	0	14	dbSNP_129	60	0,8600		0,0,4300	yes	missense,missense	SERPINA10	NM_001100607.1,NM_016186.2	29,29	1,36,6466	TT,TC,CC		0.0,0.8625,0.2922	benign,benign	154/445,154/445	94756470	38,12968	2203	4300	6503	SO:0001583	missense	51156			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.461G>A	14.37:g.94756470C>T	ENSP00000376809:p.Arg154His		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	1.618	-0.522143	0.04171	0.008625	0.0	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	4.97	-7.71	0.01254	Serpin domain (3);	2.161880	0.01822	N	0.034133	T	0.66247	0.2770	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60424	-0.7266	10	0.30854	T	0.27	.	10.0492	0.42205	0.0:0.3809:0.1627:0.4564	rs61761870	154	Q9UK55	ZPI_HUMAN	H	194;154;154;154	ENSP00000450896:R194H;ENSP00000376809:R154H;ENSP00000261994:R154H;ENSP00000450971:R154H	ENSP00000261994:R154H	R	-	2	0	SERPINA10	93826223	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.234000	0.00546	-2.153000	0.00793	-3.554000	0.00030	CGC		0.517	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		T	94756470	C	T	94756470	3	4	24	1	0	0	0	0	1	0	0	0	14087	768	27	1	889	1	SERPINA10	14	94756470	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10		94756470	12593070	49	1824											
MAPKBP1	23005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	42113229	42113229	+	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	cccatctggtcccaggaagcAtgggcaggaggcccttgaga	9	6	14	12	0	1	1	0	1	1	1	2	4	2	3	3	5	1	2	3	5	1	1			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:42113229A>C	ENST00000456763.2	+	24	2895	c.2699A>C	c.(2698-2700)cAt>cCt	p.H900P	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.H894P|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.H894P|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.H777P|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.H733P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	900										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)		CCCAGGAAGCATGGGCAGGAG	0.602																																						.											0													67	63	65					15																	42113229		2203	4300	6503	SO:0001583	missense	23005			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.2699A>C	15.37:g.42113229A>C	ENSP00000393099:p.His900Pro		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	5.467	0.271189	0.10349	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.39229	1.25;1.42;1.09;1.3;1.38	4.59	3.43	0.39272	.	0.827610	0.10727	N	0.641001	T	0.26593	0.0650	N	0.19112	0.55	0.09310	N	1	B;B;P;P;B;P	0.39282	0.255;0.255;0.666;0.63;0.246;0.49	B;B;B;B;B;B	0.37346	0.06;0.136;0.092;0.187;0.081;0.247	T	0.07829	-1.0752	10	0.25106	T	0.35	-0.1822	7.9821	0.30190	0.792:0.208:0.0:0.0	.	733;777;733;894;900;894	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	P	894;777;733;900;894	ENSP00000397570:H894P;ENSP00000221214:H777P;ENSP00000260357:H733P;ENSP00000393099:H900P;ENSP00000426154:H894P	ENSP00000221214:H777P	H	+	2	0	MAPKBP1	39900521	0.171000	0.23029	0.341000	0.25589	0.061000	0.15899	1.398000	0.34554	0.758000	0.33059	0.460000	0.39030	CAT		0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		C	42113229	A	C	42113229	3	2	24	1	0	0	0	0	1	0	0	0	9292	217	8	5	2789	5	MAPKBP1	15	42113229	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		42113229	60418163	50	1825											
USP8	9101	mdanderson.org	37	chr15	50784990	50784990	+	Missense_Mutation	SNP	T	T	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	tggaggttctggaccagctcTtactggacttcgtaacttag	8	13	11	9	1	2	0	0	0	2	0	3	3	2	3	1	4	3	3	1	4	3	5	rs146125856	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:50784990T>C	ENST00000396444.3	+	15	2665	c.2327T>C	c.(2326-2328)cTt>cCt	p.L776P	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.L670P|USP8_ENST00000307179.4_Missense_Mutation_p.L776P|USP8_ENST00000433963.1_Missense_Mutation_p.L776P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	776					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)	p.L776P(1)		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)		GGACCAGCTCTTACTGGACTT	0.418																																						.											1	Substitution - Missense(1)	central_nervous_system(1)											126	112	117					15																	50784990		2196	4294	6490	SO:0001583	missense	9101			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.2327T>C	15.37:g.50784990T>C	ENSP00000379721:p.Leu776Pro		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062687	0.76187	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.80332	2.49	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.71870	0.924;0.975	T	0.63906	-0.6531	10	0.72032	D	0.01	-8.8207	15.3993	0.74827	0.0:0.0:0.0:1.0	.	670;776	B4DKA8;P40818	.;UBP8_HUMAN	P	776;776;776;670;1;1	ENSP00000379721:L776P;ENSP00000405537:L776P;ENSP00000302239:L776P;ENSP00000412682:L670P	ENSP00000302239:L776P	L	+	2	0	USP8	48572282	1.000000	0.71417	0.994000	0.49952	0.822000	0.46500	7.435000	0.80391	2.096000	0.63516	0.528000	0.53228	CTT		0.418	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		C	50784990	T	C	50784990	3	2	24	1	0	0	0	0	1	0	0	0	17086	1609	56	2	2381	2	USP8	15	50784990	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	8671761	50784990	51746402	51	1826											
DENND4A	10260	bcgsc.ca	37	chr15	65982751	65982751	+	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	agcaaatactaaccaaacttAccttagatgatgtggtgtac	15	11	7	8	0	0	2	0	1	0	1	0	2	0	2	2	1	6	2	2	1	7	5			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:65982751A>G	ENST00000431932.2	-	22	4256		c.e22+1		DENND4A_ENST00000567323.1_Splice_Site|DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						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						AACCAAACTTACCTTAGATGA	0.373																																						.											0													107	97	100					15																	65982751		2008	4163	6171	SO:0001630	splice_region_variant	10260			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.4047+1T>C	15.37:g.65982751A>G			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.025883	0.35701	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5398	0.76035	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63769805	1.000000	0.71417	0.969000	0.41365	0.368000	0.29767	8.310000	0.89971	2.083000	0.62718	0.528000	0.53228	.		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Intron	G	65982751	A	G	65982751	5	3	24	1	0	0	0	0	0	0	1	0	4433	405	14	2	1586	2	DENND4A	15	65982751	Splice_Site	SNP	A	TCGA-KL-8346-01A-11D-2310-10	15197761	65982751	36548641	52	1827											
C15orf42	90381	ucsc.edu	37	chr15	90119273	90119273	+	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	gcgctcgggggcttggtgaaCgccgtcttcctcctggcccc	2	9	14	16	4	1	1	0	1	1	0	4	1	3	1	5	4	1	2	5	4	1	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:90119273C>T	ENST00000268138.7	+	1	561	c.456C>T	c.(454-456)aaC>aaT	p.N152N	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Silent_p.N152N			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	152				N -> Y (in Ref. 3; DR731357). {ECO:0000305}.	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)										GCTTGGTGAACGCCGTCTTCC	0.716																																						.											0													13	18	16					15																	90119273		2024	4165	6189	SO:0001819	synonymous_variant	90381			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.456C>T	15.37:g.90119273C>T			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	CCDS10352.2																																																																																				0.716	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		T	90119273	C	T	90119273	2	4	24	1	0	0	0	0	0	0	0	1	1796	535	19	1		1	C15orf42	15	90119273	Silent	SNP	C	TCGA-KL-8346-01A-11D-2310-10	24136522	90119273	12412119	53	1828											
ALDOA	226	broad.mit.edu	37	chr16	30079974	30079974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaccccaacaggtagacaAgggcgtggtccccctggcag	9	5	13	14	1	0	2	0	1	0	1	1	2	1	2	4	4	1	2	4	4	3	1			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr16:30079974A>G	ENST00000566897.1	+	7	1484	c.332A>G	c.(331-333)aAg>aGg	p.K111R	ALDOA_ENST00000563060.2_Missense_Mutation_p.K111R|ALDOA_ENST00000564546.1_Missense_Mutation_p.K111R|ALDOA_ENST00000412304.2_Missense_Mutation_p.K111R|ALDOA_ENST00000564595.2_Missense_Mutation_p.K165R|ALDOA_ENST00000338110.5_Missense_Mutation_p.K111R|ALDOA_ENST00000569798.1_Missense_Mutation_p.K111R|ALDOA_ENST00000395248.1_Missense_Mutation_p.K165R|ALDOA_ENST00000569545.1_Missense_Mutation_p.K111R|ALDOA_ENST00000395240.3_Missense_Mutation_p.K111R			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	111					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						CAGGTAGACAAGGGCGTGGTC	0.547																																						.											0													131	114	120					16																	30079974		2197	4300	6497	SO:0001583	missense	226			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.332A>G	16.37:g.30079974A>G	ENSP00000455724:p.Lys111Arg		B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408417	0.83340	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.79	5.79	0.91817	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.86343	2.81	0.80722	D	1	B	0.20780	0.048	B	0.32533	0.147	D	0.90146	0.4217	10	0.87932	D	0	.	15.105	0.72315	1.0:0.0:0.0:0.0	.	111	P04075	ALDOA_HUMAN	R	165;111;111;111	ENSP00000378669:K165R;ENSP00000336927:K111R;ENSP00000400452:K111R;ENSP00000378661:K111R	ENSP00000336927:K111R	K	+	2	0	ALDOA	29987475	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.021000	0.93673	2.208000	0.71279	0.533000	0.62120	AAG		0.547	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		G	30079974	A	G	30079974	3	3	24	1	0	0	0	0	1	0	0	0	507	72	3	2	342	2	ALDOA	16	30079974	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		30079974	60274779	54	1829											
MYO15A	51168	broad.mit.edu	37	chr17	18042900	18042900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgccaggatgtgctggAcctgttcgtacggagccgga	7	8	16	10	4	0	0	0	0	0	0	1	4	0	4	3	4	4	3	3	4	1	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:18042900A>G	ENST00000205890.5	+	19	5524	c.5186A>G	c.(5185-5187)gAc>gGc	p.D1729G	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1729	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GATGTGCTGGACCTGTTCGTA	0.632																																						.											0													72	80	78					17																	18042900		2100	4213	6313	SO:0001583	missense	51168			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.5186A>G	17.37:g.18042900A>G	ENSP00000205890:p.Asp1729Gly		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354688	0.41700	.	.	ENSG00000091536	ENST00000205890	D	0.87179	-2.22	4.6	4.6	0.57074	Myosin head, motor domain (2);	.	.	.	.	D	0.87099	0.6093	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.62649	0.905	D	0.88388	0.3006	9	0.72032	D	0.01	.	12.0361	0.53425	1.0:0.0:0.0:0.0	.	1729	Q9UKN7	MYO15_HUMAN	G	1729	ENSP00000205890:D1729G	ENSP00000205890:D1729G	D	+	2	0	MYO15A	17983625	1.000000	0.71417	0.983000	0.44433	0.388000	0.30384	8.963000	0.93385	1.854000	0.53819	0.379000	0.24179	GAC		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		G	18042900	A	G	18042900	3	3	24	1	0	0	0	0	1	0	0	0	10063	275	10	2	5252	2	MYO15A	17	18042900	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		18042900	63152310	55	1830											
ITGB4	3691	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr17	73727413	73727413	+	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	tccaagatgttccagaagacGaggactgggtcctttcacat	11	10	10	10	1	1	3	1	0	0	3	4	5	4	4	3	2	0	1	3	2	2	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:73727413G>T	ENST00000200181.3	+	10	1366	c.1179G>T	c.(1177-1179)acG>acT	p.T393T	ITGB4_ENST00000339591.3_Silent_p.T393T|ITGB4_ENST00000579662.1_Silent_p.T393T|ITGB4_ENST00000449880.2_Silent_p.T393T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.T393T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	393					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)			TCCAGAAGACGAGGACTGGGT	0.642																																						.											0													62	61	62					17																	73727413		2203	4300	6503	SO:0001819	synonymous_variant	3691				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.1179G>T	17.37:g.73727413G>T			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	CCDS11727.1																																																																																				0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			T	73727413	G	T	73727413	2	4	24	1	0	0	0	0	0	0	0	1	7897	1045	37	5		5	ITGB4	17	73727413	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	55684513	73727413	7467797	56	1831											
SLC38A10	124565	ucsc.edu	37	chr17	79219503	79219503	+	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	ggcagggggttaaggccaatGatgaccccatccctcggggc	8	6	15	12	1	0	2	0	2	0	0	2	2	1	2	4	6	0	2	4	6	2	1	rs10569617|rs3833102	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:79219503G>A	ENST00000374759.3	-	16	3596	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1071				Missing (in Ref. 5; AAG17235). {ECO:0000305}.	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)			TAAGGCCAATGATGACCCCAT	0.687																																						.											0													30	24	26					17																	79219503		2038	3935	5973	SO:0001819	synonymous_variant	124565			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.3213C>T	17.37:g.79219503G>A			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		A	79219503	G	A	79219503	2	1	24	1	0	0	0	0	0	0	0	1	14602	1280	45	4		4	SLC38A10	17	79219503	Silent	SNP	G	TCGA-KL-8346-01A-11D-2310-10	5492090	79219503	1975707	57	1832											
VAPA	9218	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr18	9954094	9954094	+	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	gtagcacattcggataaaccTggatcaacctcaactgcatc	13	9	7	12	1	2	0	2	0	0	0	4	2	2	2	2	2	5	3	2	2	5	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr18:9954094T>A	ENST00000400000.2	+	6	891	c.636T>A	c.(634-636)ccT>ccA	p.P212P	VAPA_ENST00000340541.4_Silent_p.P257P|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	212					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						CGGATAAACCTGGATCAACCT	0.388																																						.											0													193	174	180					18																	9954094		1903	4112	6015	SO:0001819	synonymous_variant	9218				CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.636T>A	18.37:g.9954094T>A			A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Silent	SNP	ENST00000400000.2	37	CCDS11848.2																																																																																				0.388	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			A	9954094	T	A	9954094	2	1	24	1	0	0	0	0	0	0	0	1	17118	1567	55	5		5	VAPA	18	9954094	Silent	SNP	T	TCGA-KL-8346-01A-11D-2310-10		9954094	68123154	58	1833											
TBXA2R	6915	broad.mit.edu	37	chr19	3595778	3595778	+	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	ctggagacgccggagcacggCgcggcggaacaggatataca	11	3	16	11	6	0	1	0	0	0	1	0	5	0	4	1	6	3	1	1	6	3	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:3595778C>A	ENST00000375190.4	-	3	1333	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R184L|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A314S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	314					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)	CGGAGCACGGCGCGGCGGAAC	0.677																																						.											0													18	23	21					19																	3595778		2173	4273	6446	SO:0001583	missense	6915				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.940G>T	19.37:g.3595778C>A	ENSP00000364336:p.Ala314Ser		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385036	0.61956	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.44482	1.27;0.92	5.27	3.03	0.35002	.	0.207524	0.39615	N	0.001305	T	0.26304	0.0642	N	0.19112	0.55	0.33934	D	0.642444	P	0.37781	0.608	B	0.34346	0.18	T	0.32719	-0.9896	10	0.35671	T	0.21	-19.7154	12.63	0.56651	0.311:0.689:0.0:0.0	.	314	P21731	TA2R_HUMAN	S	314	ENSP00000393333:A314S;ENSP00000364336:A314S	ENSP00000364336:A314S	A	-	1	0	TBXA2R	3546778	0.978000	0.34361	0.513000	0.27749	0.219000	0.24729	2.240000	0.43088	0.527000	0.28560	0.561000	0.74099	GCC		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			A	3595778	C	A	3595778	3	1	24	1	0	0	0	0	1	0	0	0	15660	768	27	5	340	5	TBXA2R	19	3595778	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10		3595778	55533205	59	1834											
CACNA1A	773	broad.mit.edu	37	chr19	13372388	13372388	+	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	gacgatgaggatgttgaagaCgtttttaagtgagttcacca	12	12	12	5	2	1	4	1	3	0	1	1	7	1	5	1	1	0	3	1	1	2	5			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:13372388C>T	ENST00000360228.5	-	26	4125	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1377I	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	1377					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)	ATGTTGAAGACGTTTTTAAGT	0.522																																						.											0													57	56	57					19																	13372388		2078	4204	6282	SO:0001583	missense	773			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.4126G>A	19.37:g.13372388C>T	ENSP00000353362:p.Val1376Ile		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094267	0.56075	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98060	-4.69	4.17	4.17	0.49024	Ion transport (1);	0.087480	0.46145	D	0.000318	D	0.96920	0.8994	N	0.17564	0.495	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.985;0.974;0.989	D	0.97476	1.0044	10	0.48119	T	0.1	.	15.2662	0.73663	0.0:1.0:0.0:0.0	.	1377;1380;1376	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	I	1376;1380;1377;1377	ENSP00000353362:V1376I	ENSP00000317661:V1377I	V	-	1	0	CACNA1A	13233388	1.000000	0.71417	0.995000	0.50966	0.524000	0.34500	7.757000	0.85209	1.884000	0.54569	0.561000	0.74099	GTC		0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13372388	C	T	13372388	3	4	24	1	0	0	0	0	1	0	0	0	2538	536	19	1	3584	1	CACNA1A	19	13372388	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	9776610	13372388	45756595	60	1835											
ZNF676	163223	mdanderson.org	37	chr19	22363610	22363610	+	Silent	SNP	A	A	G																															ttgtagggtttctctccagtAtgaattctcttatgttccat																								rs201622264	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:22363610A>G	ENST00000397121.2	-	3	1226	c.909T>C	c.(907-909)caT>caC	p.H303H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	303					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)				TCTCTCCAGTATGAATTCTCT	0.443																																						.											0													81	83	83					19																	22363610		2112	4258	6370	SO:0001819	synonymous_variant	163223			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.909T>C	19.37:g.22363610A>G			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363610	A	G	22363610	2	3	24	1	0	0	0	0	0	0	0	1	18080	446	16	4		4	ZNF676	19	22363610	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10	8991222	22363610	36765373	61	1836	51	2									
ZNF676	163223	mdanderson.org	37	chr19	22363615	22363615	+	Missense_Mutation	SNP	T	T	C																															gggtttctctccagtatgaaTtctcttatgttccatgagct																								rs76328545	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:22363615T>C	ENST00000397121.2	-	3	1221	c.904A>G	c.(904-906)Att>Gtt	p.I302V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	302					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)				CCAGTATGAATTCTCTTATGT	0.428																																						.											0													85	88	87					19																	22363615		2125	4266	6391	SO:0001583	missense	163223			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.904A>G	19.37:g.22363615T>C	ENSP00000380310:p.Ile302Val		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.149580	0.01714	.	.	ENSG00000196109	ENST00000397121	T	0.00986	5.47	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05534	-0.03	0.20196	N	0.999929	B	0.15930	0.015	B	0.18871	0.023	T	0.51004	-0.8760	9	0.62326	D	0.03	.	0.401	0.00426	0.2032:0.1668:0.2049:0.4252	.	302	Q8N7Q3	ZN676_HUMAN	V	302	ENSP00000380310:I302V	ENSP00000380310:I302V	I	-	1	0	ZNF676	22155455	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.149000	0.10204	-3.301000	0.00192	-3.318000	0.00044	ATT		0.428	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		C	22363615	T	C	22363615	3	2	24	1	0	0	0	0	1	0	0	0	18080	1493	52	4	866	4	ZNF676	19	22363615	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	5	22363615	36765368	62	1837	51	2									
THAP8	199745	broad.mit.edu	37	chr19	36526406	36526406	+	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	ccactgtggcaggtgcagggTcctgggcaaggaccatggct	7	7	16	11	0	0	0	0	0	0	0	1	1	1	1	3	6	1	4	3	6	1	0			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:36526406T>G	ENST00000292894.1	-	4	1305	c.761A>C	c.(760-762)gAc>gCc	p.D254A	CLIP3_ENST00000593074.1_5'Flank|AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Missense_Mutation_p.D109A|CLIP3_ENST00000360535.4_5'Flank	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	254							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGTGCAGGGTCCTGGGCAAG	0.552																																						.											0													99	88	92					19																	36526406		2203	4300	6503	SO:0001583	missense	199745			AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"THAP (C2CH-type zinc finger) domain containing"	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.761A>C	19.37:g.36526406T>G	ENSP00000292894:p.Asp254Ala		Q0P5Z7|Q96M21	Missense_Mutation	SNP	ENST00000292894.1	37	CCDS33000.1	.	.	.	.	.	.	.	.	.	.	t	4.894	0.166084	0.09339	.	.	ENSG00000161277	ENST00000292894;ENST00000392182;ENST00000538849	D;T	0.87729	-2.29;1.79	2.92	-0.456	0.12190	.	5.545120	0.01495	U	0.017275	T	0.74831	0.3768	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.62695	-0.6800	10	0.34782	T	0.22	.	6.8993	0.24273	0.0:0.6457:0.0:0.3543	.	254	Q8NA92	THAP8_HUMAN	A	254;254;109	ENSP00000292894:D254A;ENSP00000445493:D109A	ENSP00000292894:D254A	D	-	2	0	THAP8	41218246	0.001000	0.12720	0.033000	0.17914	0.274000	0.26718	-0.096000	0.11059	-0.007000	0.14345	-0.141000	0.14075	GAC		0.552	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379036.1	NM_152658		G	36526406	T	G	36526406	3	3	24	1	0	0	0	0	1	0	0	0	15847	1667	58	5	67	5	THAP8	19	36526406	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	14162791	36526406	22602577	63	1838											
RYR1	6261	ucsc.edu;bcgsc.ca	37	chr19	39017691	39017691	+	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	caaccttcaccttcagggaaAggtatgcctccttcctctgc	8	11	7	15	0	3	0	2	0	1	0	5	1	5	1	5	2	3	1	5	2	3	4			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:39017691A>G	ENST00000359596.3	+	72	10685	c.10685A>G	c.(10684-10686)aAg>aGg	p.K3562R	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Splice_Site_p.K3562R|RYR1_ENST00000355481.4_Splice_Site_p.K3557R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3562					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)	CTTCAGGGAAAGGTATGCCTC	0.478																																						.											0													99	83	88					19																	39017691		2203	4300	6503	SO:0001630	splice_region_variant	6261			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.10686+1A>G	19.37:g.39017691A>G			Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475382	0.43942	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97505	-4.4;-4.41;-4.4	4.36	4.36	0.52297	.	0.000000	0.64402	U	0.000001	D	0.98353	0.9453	M	0.86420	2.815	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	D	0.99126	1.0851	10	0.72032	D	0.01	.	12.6906	0.56972	1.0:0.0:0.0:0.0	.	3562;3557;3562	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	R	3562;3557;3562;482	ENSP00000352608:K3562R;ENSP00000347667:K3557R;ENSP00000354254:K3562R	ENSP00000347667:K3557R	K	+	2	0	RYR1	43709531	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.857000	0.92250	1.826000	0.53198	0.383000	0.25322	AAG		0.478	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	G	39017691	A	G	39017691	5	3	24	1	0	0	0	0	0	0	1	0	13768	86	3	2	10971	2	RYR1	19	39017691	Splice_Site	SNP	A	TCGA-KL-8346-01A-11D-2310-10	2491285	39017691	20111292	64	1839											
HAS1	3036	ucsc.edu;bcgsc.ca	37	chr19	52222713	52222713	+	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	gtcctcgtcagcgaagacctCgcggaacatgtcgaccatgt	9	8	11	13	5	1	1	1	0	0	1	5	4	2	2	3	1	2	0	3	1	2	0			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:52222713C>T	ENST00000222115.1	-	2	482	c.448G>A	c.(448-450)Gag>Aag	p.E150K	HAS1_ENST00000601714.1_Missense_Mutation_p.E157K|HAS1_ENST00000594621.1_Missense_Mutation_p.E4K|HAS1_ENST00000540069.2_Missense_Mutation_p.E149K	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	150					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)		GCGAAGACCTCGCGGAACATG	0.721																																					NSCLC(132;636 2450 45807 47979)	.											0													12	10	11					19																	52222713		2086	4031	6117	SO:0001583	missense	3036			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.448G>A	19.37:g.52222713C>T	ENSP00000222115:p.Glu150Lys		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	29.9	5.044425	0.93685	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.58797	0.31;0.31	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68353	0.957;0.906;0.906	T	0.71133	-0.4681	10	0.46703	T	0.11	-27.3058	13.5905	0.61957	0.0:1.0:0.0:0.0	.	149;150;149	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	K	149;150;4;4	ENSP00000445021:E149K;ENSP00000222115:E150K	ENSP00000222115:E150K	E	-	1	0	HAS1	56914525	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	4.463000	0.60128	1.832000	0.53329	0.423000	0.28283	GAG		0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		T	52222713	C	T	52222713	3	4	24	1	0	0	0	0	1	0	0	0	6961	893	31	1	1304	1	HAS1	19	52222713	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	13205022	52222713	6906270	65	1840											
ZNF28	7576	mdanderson.org	37	chr19	53303182	53303182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgaaggtcttgccacacTcattacacttgtaaggtttc	10	13	8	10	0	2	1	1	1	1	0	3	2	2	1	1	2	2	2	1	2	3	5	rs142391659		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:53303182T>C	ENST00000457749.2	-	4	2035	c.1916A>G	c.(1915-1917)gAg>gGg	p.E639G	ZNF28_ENST00000414252.2_Missense_Mutation_p.E586G|ZNF28_ENST00000438150.2_Missense_Mutation_p.E586G|ZNF28_ENST00000360272.4_Missense_Mutation_p.E586G	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	639					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)		CTTGCCACACTCATTACACTT	0.428																																						.											0													193	181	185					19																	53303182		2203	4300	6503	SO:0001583	missense	7576			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.1916A>G	19.37:g.53303182T>C	ENSP00000397693:p.Glu639Gly		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.84	1.465403	0.26335	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	1.81	0.634	0.17718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40546	0.1121	L	0.47716	1.5	0.09310	N	1	D	0.60575	0.988	P	0.55615	0.78	T	0.22695	-1.0209	9	0.72032	D	0.01	.	5.8153	0.18490	0.2376:0.0:0.0:0.7624	.	639	P17035	ZNF28_HUMAN	G	586;639;586;586	ENSP00000412143:E586G;ENSP00000397693:E639G;ENSP00000353410:E586G;ENSP00000444965:E586G	ENSP00000353410:E586G	E	-	2	0	ZNF28	57994994	0.000000	0.05858	0.024000	0.17045	0.568000	0.35870	-0.093000	0.11111	-0.035000	0.13691	0.248000	0.18094	GAG		0.428	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		C	53303182	T	C	53303182	3	2	24	1	0	0	0	0	1	0	0	0	17810	1551	54	2	244	2	ZNF28	19	53303182	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	1080469	53303182	5825801	66	1841											
ZGPAT	84619	ucsc.edu	37	chr20	62340424	62340424	+	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	gcggaggatggctcggcgggTgtccgtgtgctttacctgta	4	11	17	9	4	0	0	0	0	0	0	2	2	1	2	2	5	2	3	2	5	2	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr20:62340424T>G	ENST00000328969.5	+	2	619	c.492T>G	c.(490-492)ggT>ggG	p.G164G	ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000355969.6_Silent_p.G164G|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.G164G|ZGPAT_ENST00000448100.2_Silent_p.G164G|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000357119.4_Silent_p.G164G|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000478385.1_3'UTR|ARFRP1_ENST00000359715.5_5'Flank|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.V70G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	164					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)					GCTCGGCGGGTGTCCGTGTGC	0.592																																						.											0													95	93	94					20																	62340424		2203	4300	6503	SO:0001819	synonymous_variant	84619			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.492T>G	20.37:g.62340424T>G			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	CCDS13534.1																																																																																				0.592	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		G	62340424	T	G	62340424	2	3	24	1	0	0	0	0	0	0	0	1	17671	1683	59	5		5	ZGPAT	20	62340424	Silent	SNP	T	TCGA-KL-8346-01A-11D-2310-10		62340424	685096	67	1842											
CARD10	29775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	37888769	37888769	+	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	cgcagggcagacaccagtagCggccgcaccaaactgtaggg	11	3	14	13	3	0	1	0	0	0	1	0	1	0	1	3	3	2	5	3	3	3	2	rs377009692	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:37888769C>T	ENST00000403299.1	-	18	2733	c.2517G>A	c.(2515-2517)ccG>ccA	p.P839P	CARD10_ENST00000406271.3_Silent_p.P553P|CARD10_ENST00000251973.5_Silent_p.P839P			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	839					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)					ACACCAGTAGCGGCCGCACCA	0.662													C|||	31	0.0061901	0	0	5008	,	,		14734	0		0	False		,,,				2504	0.0317					.											0								C		1,4405	2.1+/-5.4	0,1,2202	30	30	30		2517	-9.7	0.3	22		30	0,8598		0,0,4299	no	coding-synonymous	CARD10	NM_014550.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		839/1033	37888769	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	29775			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.2517G>A	22.37:g.37888769C>T			Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																				0.662	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		T	37888769	C	T	37888769	2	4	24	1	0	0	0	0	0	0	0	1	2644	755	27	1		1	CARD10	22	37888769	Silent	SNP	C	TCGA-KL-8346-01A-11D-2310-10		37888769	13415797	68	1843											
MICALL1	85377	broad.mit.edu;hgsc.bcm.edu	37	chr22	38328810	38328810	+	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	gtatctggcttccagagggcCgtgaggatgacatgctggtg	7	10	16	8	1	1	3	0	2	1	1	2	4	2	4	2	4	1	3	2	4	1	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:38328810C>T	ENST00000215957.6	+	12	2275	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	717	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCCAGAGGGCCGTGAGGATGA	0.637																																						.											0													73	61	65					22																	38328810		2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2149C>T	22.37:g.38328810C>T	ENSP00000215957:p.Arg717Cys		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.60|15.60	2.880935|2.880935	0.51801|0.51801	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957;ENST00000402631;ENST00000424008	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	5.17|5.17	1.7|1.7	0.24286|0.24286	.|Domain of unknown function DUF3585 (1);	.|0.580733	.|0.17003	.|N	.|0.190850	T|T	0.29158|0.29158	0.0725|0.0725	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999995|0.999995	.|B	.|0.20052	.|0.041	.|B	.|0.12837	.|0.008	T|T	0.08953|0.08953	-1.0697|-1.0697	5|10	.|0.72032	.|D	.|0.01	.|.	5.5158|5.5158	0.16906|0.16906	0.1382:0.5376:0.2524:0.0718|0.1382:0.5376:0.2524:0.0718	.|.	.|717	.|Q8N3F8	.|MILK1_HUMAN	L|C	292|717;144;31	.|ENSP00000215957:R717C;ENSP00000384608:R144C;ENSP00000416766:R31C	.|ENSP00000215957:R717C	P|R	+|+	2|1	0|0	MICALL1|MICALL1	36658756|36658756	0.784000|0.784000	0.28713|0.28713	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	1.285000|1.285000	0.33261|0.33261	0.213000|0.213000	0.20722|0.20722	-0.282000|-0.282000	0.10007|0.10007	CCG|CGT		0.637	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		T	38328810	C	T	38328810	3	4	24	1	0	0	0	0	1	0	0	0	9573	652	23	1	2195	1	MICALL1	22	38328810	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	440041	38328810	12975756	69	1844											
CYP2D6	1565	mdanderson.org	37	chr22	42523539	42523539	+	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	tccccaaagcgctgcacctcAtgaatcacggcagtggtgta	10	8	10	13	2	2	1	2	1	0	0	3	1	3	1	3	2	2	4	3	2	3	1	rs28371726	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:42523539A>G	ENST00000360608.5	-	7	1197	c.1083T>C	c.(1081-1083)caT>caC	p.H361H	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.H310H|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.H361H	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	361					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)	GCTGCACCTCATGAATCACGG	0.602																																						.											0													119	93	102					22																	42523539		2202	4299	6501	SO:0001819	synonymous_variant	1565			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.1083T>C	22.37:g.42523539A>G			Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	CCDS46721.1																																																																																				0.602	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			G	42523539	A	G	42523539	2	3	24	1	0	0	0	0	0	0	0	1	4169	214	8	4		4	CYP2D6	22	42523539	Silent	SNP	A	TCGA-KL-8346-01A-11D-2310-10	4194729	42523539	8781027	70	1845											
UBA1	7317	bcgsc.ca	37	chrX	47058254	47058254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgtccgggcctgatccaaAgccgggttctaactgctccc	6	9	11	15	3	1	1	0	1	1	0	4	1	4	1	5	2	3	2	5	2	2	2			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:47058254A>G	ENST00000335972.6	+	2	236	c.53A>G	c.(52-54)aAg>aGg	p.K18R	UBA1_ENST00000377351.4_Missense_Mutation_p.K18R	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	18					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTGATCCAAAGCCGGGTTCT	0.602																																						.											0													98	75	83					X																	47058254		2203	4300	6503	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.53A>G	X.37:g.47058254A>G	ENSP00000338413:p.Lys18Arg		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833108	0.71258	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000427561;ENST00000442035;ENST00000457753;ENST00000335972;ENST00000451702	T;T;D;T;T;T;T	0.83335	0.93;-0.09;-1.71;-0.1;-1.2;0.93;-0.76	5.3	5.3	0.74995	.	0.047429	0.85682	D	0.000000	T	0.70850	0.3271	N	0.19112	0.55	0.80722	D	1	B	0.23735	0.09	B	0.21708	0.036	T	0.65981	-0.6036	10	0.17832	T	0.49	-11.736	13.4039	0.60900	1.0:0.0:0.0:0.0	.	18	P22314	UBA1_HUMAN	R	18;18;32;32;69;18;69	ENSP00000366568:K18R;ENSP00000415033:K18R;ENSP00000397816:K32R;ENSP00000389583:K32R;ENSP00000404796:K69R;ENSP00000338413:K18R;ENSP00000401101:K69R	ENSP00000338413:K18R	K	+	2	0	UBA1	46943198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	1.876000	0.54355	0.483000	0.47432	AAG		0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		G	47058254	A	G	47058254	3	3	24	1	0	0	0	0	1	0	0	0	16824	72	3	2	55	2	UBA1	23	47058254	Missense_Mutation	SNP	A	TCGA-KL-8346-01A-11D-2310-10		47058254	108212306	71	1846											
ABCB7	22	broad.mit.edu	37	chrX	74273332	74273332	+	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	ggttatcatggttctgcacaCggctgctctgtgtatgccac	6	13	11	11	1	3	0	1	0	2	0	3	0	3	0	1	3	3	6	1	3	2	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:74273332C>T	ENST00000373394.3	-	16	2139	c.2132G>A	c.(2131-2133)cGt>cAt	p.R711H	ABCB7_ENST00000253577.3_Missense_Mutation_p.R712H|ABCB7_ENST00000339447.4_Missense_Mutation_p.R671H			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	711					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GTTCTGCACACGGCTGCTCTG	0.408																																						.											0													106	86	92					X																	74273332		2203	4298	6501	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.2132G>A	X.37:g.74273332C>T	ENSP00000362492:p.Arg711His		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	C	12.56	1.976022	0.34848	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.88354	-1.96;-1.96;-1.96;-2.37	5.76	2.67	0.31697	.	0.194650	0.50627	N	0.000119	T	0.75932	0.3917	N	0.17800	0.525	0.39586	D	0.969512	B;B;D;B;B	0.54601	0.006;0.051;0.967;0.006;0.051	B;B;B;B;B	0.38056	0.009;0.007;0.264;0.004;0.011	T	0.73078	-0.4096	10	0.46703	T	0.11	-22.0547	6.9083	0.24321	0.0:0.5756:0.1388:0.2856	.	685;671;712;711;712	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	H	685;712;671;711;685	ENSP00000253577:R712H;ENSP00000343849:R671H;ENSP00000362492:R711H;ENSP00000436586:R685H	ENSP00000253577:R712H	R	-	2	0	ABCB7	74190057	0.315000	0.24571	0.951000	0.38953	0.991000	0.79684	0.369000	0.20416	0.508000	0.28173	0.600000	0.82982	CGT		0.408	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		T	74273332	C	T	74273332	3	4	24	1	0	0	0	0	1	0	0	0	46	536	19	1	130	1	ABCB7	23	74273332	Missense_Mutation	SNP	C	TCGA-KL-8346-01A-11D-2310-10	27215078	74273332	80997228	72	1847											
TCEAL4	79921	mdanderson.org	37	chrX	102842229	102842229	+	Missense_Mutation	SNP	T	T	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	cagggccccacgaagggacaTtgaagacattccttatgtgt	11	9	11	10	1	0	2	0	1	0	1	1	4	1	3	3	2	0	0	3	2	3	3	rs201993261		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:102842229T>C	ENST00000472745.1	+	3	1178	c.626T>C	c.(625-627)aTt>aCt	p.I209T	TCEAL4_ENST00000472484.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000494801.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000415568.2_Missense_Mutation_p.I209T|TCEAL4_ENST00000468024.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000372629.4_Missense_Mutation_p.I352T			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I352T(1)		endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CGAAGGGACATTGAAGACATT	0.498																																						.											1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.626T>C	X.37:g.102842229T>C	ENSP00000424314:p.Ile209Thr		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	37	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	T	9.922	1.212528	0.22289	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801	T;T;T;T;T;T	0.26660	1.72;1.82;1.82;1.82;1.82;1.82	3.73	-0.255	0.12988	.	1.237680	0.05849	N	0.620821	T	0.11410	0.0278	N	0.08118	0	0.21499	N	0.999669	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	10	0.45353	T	0.12	.	0.6663	0.00851	0.2069:0.1222:0.2101:0.4607	.	209	Q96EI5	TCAL4_HUMAN	T	352;209;209;209;180;209;209	ENSP00000361712:I352T;ENSP00000421857:I209T;ENSP00000421156:I209T;ENSP00000415564:I209T;ENSP00000424314:I209T;ENSP00000427494:I209T	ENSP00000361712:I352T	I	+	2	0	TCEAL4	102728885	0.901000	0.30685	0.921000	0.36526	0.996000	0.88848	0.097000	0.15168	-0.120000	0.11809	0.425000	0.28330	ATT		0.498	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863		C	102842229	T	C	102842229	3	2	24	1	0	0	0	0	1	0	0	0	15670	1493	52	4	628	4	TCEAL4	23	102842229	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	28568897	102842229	52428331	73	1848											
SLC25A5	292	mdanderson.org	37	chrX	118603756	118603756	+	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	tggccaatgtcatcagatacTtccccacccaggctcttaac	10	10	6	15	0	3	1	2	0	1	1	4	1	4	1	4	2	2	1	4	2	3	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:118603756T>A	ENST00000317881.8	+	2	360	c.244T>A	c.(244-246)Ttc>Atc	p.F82I	SLC25A5_ENST00000460013.1_3'UTR|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	82					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)	CATCAGATACTTCCCCACCCA	0.493																																						.											0													122	118	120					X																	118603756		2203	4300	6503	SO:0001583	missense	292			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.244T>A	X.37:g.118603756T>A	ENSP00000360671:p.Phe82Ile		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146439	0.77888	.	.	ENSG00000005022	ENST00000317881	T	0.78003	-1.14	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.83483	2.645	0.80722	D	1	P	0.47302	0.893	P	0.46718	0.525	D	0.84987	0.0892	10	0.87932	D	0	.	12.1849	0.54231	0.0:0.0:0.0:1.0	.	82	P05141	ADT2_HUMAN	I	82	ENSP00000360671:F82I	ENSP00000360671:F82I	F	+	1	0	SLC25A5	118487784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.562000	0.82300	1.622000	0.50330	0.430000	0.28490	TTC		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		A	118603756	T	A	118603756	3	1	24	1	0	0	0	0	1	0	0	0	14512	1609	56	5	250	5	SLC25A5	23	118603756	Missense_Mutation	SNP	T	TCGA-KL-8346-01A-11D-2310-10	15761527	118603756	36666804	74	1849											
MTMR1	8776	broad.mit.edu	37	chrX	149901024	149901024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacactaggtgttgtcatGgattcatccggaaagtcaag	14	10	10	7	1	3	0	3	0	0	0	4	2	4	2	1	3	1	1	1	3	5	3			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:149901024G>T	ENST00000370390.3	+	9	1035	c.878G>T	c.(877-879)tGg>tTg	p.W293L	MTMR1_ENST00000451863.2_Missense_Mutation_p.W293L|MTMR1_ENST00000541925.1_Missense_Mutation_p.W199L|MTMR1_ENST00000544228.1_Missense_Mutation_p.W293L|MTMR1_ENST00000445323.2_Missense_Mutation_p.W301L|MTMR1_ENST00000542156.1_Missense_Mutation_p.W293L|MTMR1_ENST00000538506.1_Missense_Mutation_p.W180L	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	293	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGTCATGGATTCATCCG	0.408																																						.											0													67	55	59					X																	149901024		2203	4300	6503	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.878G>T	X.37:g.149901024G>T	ENSP00000359417:p.Trp293Leu		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585470	0.86748	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	5.93	5.07	0.68467	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.98802	4.335	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	0.98869	1.0765	10	0.87932	D	0	.	14.3739	0.66860	0.0726:0.0:0.9274:0.0	.	293;301;293	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	L	199;293;293;301;293;293;180	ENSP00000441879:W199L;ENSP00000445281:W293L;ENSP00000359417:W293L;ENSP00000414178:W301L;ENSP00000440534:W293L;ENSP00000387446:W293L;ENSP00000443444:W180L	ENSP00000359417:W293L	W	+	2	0	MTMR1	149651682	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.869000	0.99810	1.261000	0.44149	0.523000	0.50628	TGG		0.408	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		T	149901024	G	T	149901024	3	4	24	1	0	0	0	0	1	0	0	0	9938	1357	47	5	912	5	MTMR1	23	149901024	Missense_Mutation	SNP	G	TCGA-KL-8346-01A-11D-2310-10	31297268	149901024	5369536	75	1850											
H6PD	9563	broad.mit.edu	37	chr1	9324408	9324408	+	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	ccacacgcacctgtggctggTtgacgagcgctgcgtcccac	6	7	12	16	4	0	1	0	1	0	0	1	2	1	1	3	2	2	4	3	2	0	1			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:9324408T>G	ENST00000377403.2	+	5	2158	c.1856T>G	c.(1855-1857)gTt>gGt	p.V619G	H6PD_ENST00000602477.1_Missense_Mutation_p.V630G	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	619	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTGGCTGGTTGACGAGCGC	0.677																																						.											0													19	21	20					1																	9324408		2190	4286	6476	SO:0001583	missense	9563			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1856T>G	1.37:g.9324408T>G	ENSP00000366620:p.Val619Gly		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	CCDS101.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400189	0.62177	.	.	ENSG00000049239	ENST00000377403	T	0.39406	1.08	5.16	2.85	0.33270	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.058049	0.64402	D	0.000002	T	0.48892	0.1525	L	0.31926	0.97	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.43925	-0.9361	10	0.87932	D	0	-29.2922	8.7296	0.34491	0.0:0.1543:0.0:0.8457	.	619	O95479	G6PE_HUMAN	G	619	ENSP00000366620:V619G	ENSP00000366620:V619G	V	+	2	0	H6PD	9246995	1.000000	0.71417	0.738000	0.30950	0.966000	0.64601	3.810000	0.55613	0.321000	0.23259	0.459000	0.35465	GTT		0.677	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		G	9324408	T	G	9324408	3	3	25	1	0	0	0	0	1	0	0	0	6936	1725	60	5	1870	5	H6PD	1	9324408	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		9324408	239926213	1	1851											
ZNF593	51042	mdanderson.org	37	chr1	26496651	26496651	+	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	cccgacctgccagggggcggTctgcaccgctgtctggcctg	3	7	15	16	3	2	0	0	0	2	0	2	1	2	0	5	4	2	2	5	4	0	0	rs7087	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:26496651T>C	ENST00000374266.5	+	1	290	c.177T>C	c.(175-177)ggT>ggC	p.G59G	RP11-96L14.7_ENST00000448923.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000270812.5_Silent_p.G59G|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	59					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGGCGGTCTGCACCGCT	0.706											OREG0013262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2678	0.534744	0.6301	0.5504	5008	,	,		13465	0.6429		0.2992	False		,,,				2504	0.5256					.											0								C		2355,1869		730,895,487	6	8	7		177	3.7	1	1	dbSNP_52	7	2256,6012		382,1492,2260	no	coding-synonymous	ZNF593	NM_015871.4		1112,2387,2747	CC,CT,TT		27.2859,44.2472,36.9116		59/135	26496651	4611,7881	2112	4134	6246	SO:0001819	synonymous_variant	51042			D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.177T>C	1.37:g.26496651T>C		787	B2R4S0|Q5T2H7	Silent	SNP	ENST00000374266.5	37	CCDS275.2																																																																																				0.706	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019842.2	NM_015871		C	26496651	T	C	26496651	2	2	25	1	0	0	0	0	0	0	0	1	18020	1654	58	2		2	ZNF593	1	26496651	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10	17172243	26496651	222753970	2	1852											
OLFM3	118427	broad.mit.edu	37	chr1	102269842	102269842	+	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	tggaaaagggtgacattgaaCagcacctggtggccattgtt	11	10	13	7	0	0	2	0	2	0	0	0	3	0	3	2	4	2	2	2	4	3	3			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:102269842C>T	ENST00000338858.5	-	6	1388	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	OLFM3_ENST00000370103.4_Silent_p.L443L|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	463	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGACATTGAACAGCACCTGGT	0.408																																						.											0													150	142	145					1																	102269842		2203	4300	6503	SO:0001819	synonymous_variant	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1389G>A	1.37:g.102269842C>T			Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37																																																																																					0.408	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			T	102269842	C	T	102269842	2	4	25	1	0	0	0	0	0	0	0	1	10854	465	17	4		4	OLFM3	1	102269842	Silent	SNP	C	TCGA-KM-8438-01A-11D-2310-10	75773191	102269842	146980779	3	1853											
LAD1	3898	mdanderson.org	37	chr1	201358386	201358386	+	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	cggtgccgccgcctgcgctcGcgctcctgttcctcctcatc	1	10	10	20	6	1	0	1	0	0	0	6	0	4	0	6	1	2	3	6	1	0	1	rs150992211	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:201358386G>A	ENST00000391967.2	-	2	385	c.84C>T	c.(82-84)cgC>cgT	p.R28R	LAD1_ENST00000367313.3_Silent_p.R42R	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	28	Poly-Arg.					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						GCCTGCGCTCGCGCTCCTGTT	0.672													G|||	5	0.000998403	0	0	5008	,	,		18002	0		0.005	False		,,,				2504	0					.											0								G		0,4406		0,0,2203	46	44	45		84	-10.3	0	1	dbSNP_134	45	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	LAD1	NM_005558.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		28/518	201358386	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	3898			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.84C>T	1.37:g.201358386G>A			O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	CCDS1410.1																																																																																				0.672	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		A	201358386	G	A	201358386	2	1	25	1	0	0	0	0	0	0	0	1	8599	1074	38	1		1	LAD1	1	201358386	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	99088544	201358386	47892235	4	1854											
CR1L	1379	broad.mit.edu	37	chr1	207896964	207896964	+	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	acttttgtcttccttttaggTtcacatgatgctcttatagt	7	20	6	8	0	3	1	1	1	2	0	4	1	4	1	1	1	1	2	1	1	3	8			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:207896964T>C	ENST00000508064.2	+	12	1704	c.1644T>C	c.(1642-1644)ggT>ggC	p.G548G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	548						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCTTTTAGGTTCACATGATG	0.353																																						.											0													216	187	196					1																	207896964		1859	4113	5972	SO:0001630	splice_region_variant	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1643-1T>C	1.37:g.207896964T>C			Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	CCDS44310.1																																																																																				0.353	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	Silent	C	207896964	T	C	207896964	5	2	25	1	0	0	0	0	0	0	1	0	3841	1739	60	2	1690	2	CR1L	1	207896964	Splice_Site	SNP	T	TCGA-KM-8438-01A-11D-2310-10	6538578	207896964	41353657	5	1855											
OR2T12	127064	mdanderson.org	37	chr1	248458419	248458419	+	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	gtagcaacagcctgcaggagGccgtcagctgcacccaggag	10	4	14	13	1	1	0	1	0	0	0	1	2	1	2	3	3	6	5	3	3	2	1	rs142654576		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:248458419G>C	ENST00000317996.1	-	1	461	c.462C>G	c.(460-462)ggC>ggG	p.G154G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			CCTGCAGGAGGCCGTCAGCTG	0.602																																						.											0													87	93	91					1																	248458419		2162	4286	6448	SO:0001819	synonymous_variant	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.462C>G	1.37:g.248458419G>C				Silent	SNP	ENST00000317996.1	37	CCDS31110.1																																																																																				0.602	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		C	248458419	G	C	248458419	2	2	25	1	0	0	0	0	0	0	0	1	11019	1190	42	5		5	OR2T12	1	248458419	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	40561455	248458419	792202	6	1856											
OR2T2	401992	bcgsc.ca	37	chr1	248616706	248616712	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-																															tgagaccctgatgtatgcctGctgcgtgctgatgctgctta																								rs199823862		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	TGCTGCG	TGCTGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:248616706_248616712delTGCTGCG	ENST00000342927.3	+	1	630_636	c.608_614delTGCTGCG	c.(607-615)ttgctgcggfs	p.LLR203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						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(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			ATGTATGCCTGCTGCGTGCTGATGCTG	0.527																																						.											0																																										SO:0001589	frameshift_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.608_614delTGCTGCG	1.37:g.248616706_248616712delTGCTGCG	ENSP00000343062:p.Leu203fs		B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		-	248616712	TGCTGCG	-	248616706	7	5	25	1	0	1	0	1	0	0	0	0	11020	1319	46	0	610	0	OR2T2	1	248616706	Frame_Shift_Del	DEL	TGCTGCG	TCGA-KM-8438-01A-11D-2310-10	158287	248616706	633915	7	1857											
NRXN1	9378	ucsc.edu;bcgsc.ca	37	chr2	51255194	51255194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagtcgcagaagcccTcgtcgtcgaagtagagcacg	11	5	13	12	5	0	2	0	0	0	2	4	4	0	3	2	1	2	3	2	1	4	1			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:51255194T>C	ENST00000406316.2	-	2	1694	c.218A>G	c.(217-219)gAg>gGg	p.E73G	NRXN1_ENST00000405472.3_Missense_Mutation_p.E73G|NRXN1_ENST00000406859.3_Missense_Mutation_p.E73G|NRXN1_ENST00000405581.1_Missense_Mutation_p.E73G|NRXN1_ENST00000404971.1_Missense_Mutation_p.E73G|NRXN1_ENST00000402717.3_Missense_Mutation_p.E73G|NRXN1_ENST00000401669.2_Missense_Mutation_p.E73G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	73	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCAGAAGCCCTCGTCGTCGAA	0.657																																						.											0													15	20	18					2																	51255194		2008	4176	6184	SO:0001583	missense	9378			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.218A>G	2.37:g.51255194T>C	ENSP00000384311:p.Glu73Gly		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	5.027	0.190678	0.09547	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.26654	U	0.023183	T	0.61961	0.2389	N	0.21282	0.65	0.37779	D	0.926933	B;B;B	0.13145	0.0;0.007;0.001	B;B;B	0.12837	0.003;0.008;0.007	T	0.58763	-0.7579	10	0.02654	T	1	.	14.6578	0.68847	0.0:0.0:0.0:1.0	.	73;73;73	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	G	73	ENSP00000385142:E73G;ENSP00000384311:E73G;ENSP00000434015:E73G;ENSP00000385017:E73G;ENSP00000385434:E73G;ENSP00000385681:E73G;ENSP00000385310:E73G	ENSP00000385017:E73G	E	-	2	0	NRXN1	51108698	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.036000	0.64164	1.860000	0.53959	0.460000	0.39030	GAG		0.657	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			C	51255194	T	C	51255194	3	2	25	1	0	0	0	0	1	0	0	0	10665	1551	54	2	4780	2	NRXN1	2	51255194	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		51255194	191944179	8	1858											
C2orf86	51057	broad.mit.edu	37	chr2	63401909	63401909	+	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	tcttctccttgaggtgctaaAgacaggccaataaatgcttc	11	12	8	10	0	2	2	0	1	2	1	4	2	2	2	2	2	2	2	2	2	5	5			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:63401909A>G	ENST00000272321.7	-	15	2501	c.1974T>C	c.(1972-1974)tcT>tcC	p.S658S	WDPCP_ENST00000398544.3_Silent_p.S499S|WDPCP_ENST00000409120.1_Silent_p.S466S|WDPCP_ENST00000409199.1_Silent_p.S466S	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	658					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GAGGTGCTAAAGACAGGCCAA	0.408																																						.											0													159	146	150					2																	63401909		1863	4095	5958	SO:0001819	synonymous_variant	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1974T>C	2.37:g.63401909A>G			Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	CCDS42688.1																																																																																				0.408	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		G	63401909	A	G	63401909	2	3	25	1	0	0	0	0	0	0	0	1	2201	59	3	2		2	C2orf86	2	63401909	Silent	SNP	A	TCGA-KM-8438-01A-11D-2310-10	12146715	63401909	179797464	9	1859											
CTNNA2	1496	broad.mit.edu	37	chr2	80816430	80816430	+	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	ttttctgtaacccacgcaggCcatcatggcgcaactaccgc	9	9	8	15	3	2	0	1	0	1	0	2	0	2	0	3	2	3	3	3	2	3	4			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:80816430C>A	ENST00000402739.4	+	14	2014	c.2009C>A	c.(2008-2010)gCc>gAc	p.A670D	AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Splice_Site_p.A670D|CTNNA2_ENST00000343114.3_Splice_Site_p.A349D|CTNNA2_ENST00000466387.1_Splice_Site_p.A670D|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000361291.4_Splice_Site_p.A704D|CTNNA2_ENST00000540488.1_Splice_Site_p.A670D|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Splice_Site_p.A670D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	670					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						CCCACGCAGGCCATCATGGCG	0.517																																						.											0													57	62	60					2																	80816430		2171	4282	6453	SO:0001630	splice_region_variant	1496				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.2008-1C>A	2.37:g.80816430C>A			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	C	13.82	2.351090	0.41599	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.31752	0.955	0.80722	D	1	B;B;B;B	0.24186	0.003;0.099;0.081;0.081	B;B;B;B	0.27796	0.007;0.058;0.056;0.083	T	0.04693	-1.0933	9	.	.	.	.	14.9476	0.71044	0.0:0.9314:0.0:0.0685	.	302;670;670;670	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	D	670;670;704;670;670;670;349	ENSP00000418191:A670D;ENSP00000419295:A670D;ENSP00000355398:A704D;ENSP00000384638:A670D;ENSP00000444675:A670D;ENSP00000441705:A670D;ENSP00000341500:A349D	.	A	+	2	0	CTNNA2	80669941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.915000	0.69973	1.443000	0.47586	0.655000	0.94253	GCC		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	Missense_Mutation	A	80816430	C	A	80816430	5	1	25	1	0	0	0	0	0	0	1	0	4013	753	26	5	1855	5	CTNNA2	2	80816430	Splice_Site	SNP	C	TCGA-KM-8438-01A-11D-2310-10	17414521	80816430	162382943	10	1860											
TTN	7273	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	179641009	179641009	+	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	ggtagcctgttaccctgcagCggaaccttgcagtctcccct	6	10	10	15	1	1	0	0	0	1	0	2	1	1	1	5	2	6	4	5	2	3	3	rs140914855		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:179641009C>T	ENST00000591111.1	-	28	5806	c.5582G>A	c.(5581-5583)cGc>cAc	p.R1861H	TTN_ENST00000360870.5_Missense_Mutation_p.R1861H|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1861H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1861H|TTN_ENST00000342175.6_Missense_Mutation_p.R1815H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1815H|TTN_ENST00000460472.2_Missense_Mutation_p.R1815H			Q8WZ42	TITIN_HUMAN	titin	12698	Ig-like 9.				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)			TACCCTGCAGCGGAACCTTGC	0.478																																						.											0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	210	199	203		5444,5582,5582,5444,5444	5.2	1	2	dbSNP_134	203	1,8599	2.2+/-6.3	0,1,4299	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1815/26927,1861/33424,1861/5605,1815/27052,1815/27119	179641009	1,13005	2203	4300	6503	SO:0001583	missense	7273			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.5582G>A	2.37:g.179641009C>T	ENSP00000465570:p.Arg1861His		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	13.46	2.243341	0.39697	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.16	5.16	0.70880	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75598	0.3871	L	0.35414	1.06	0.44061	D	0.996808	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.78705	-0.2100	9	0.87932	D	0	.	18.6477	0.91416	0.0:1.0:0.0:0.0	.	1815;1815;1815;1861;1861	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1861;1815;1815;1815;1815;1861	ENSP00000343764:R1861H;ENSP00000434586:R1815H;ENSP00000340554:R1815H;ENSP00000352154:R1815H;ENSP00000354117:R1861H	ENSP00000340554:R1815H	R	-	2	0	TTN	179349254	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.792000	0.85828	2.417000	0.82017	0.651000	0.88453	CGC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179641009	C	T	179641009	3	4	25	1	0	0	0	0	1	0	0	0	16732	768	27	1	105746	1	TTN	2	179641009	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	98824579	179641009	63558364	11	1861											
OSGEPL1	64172	ucsc.edu	37	chr2	190618648	190618648	+	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	gagataaaacttaccagtacTgcattattttgaggtaacaa	16	12	7	6	0	0	2	0	1	0	1	0	3	0	2	1	1	5	3	1	1	7	7			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:190618648T>C	ENST00000264151.5	-	5	1059	c.957A>G	c.(955-957)gcA>gcG	p.A319A	OSGEPL1_ENST00000522700.1_Silent_p.A319A|Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000519810.1_Silent_p.A319A	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TTACCAGTACTGCATTATTTT	0.368																																						.											0													49	48	49					2																	190618648		1868	4099	5967	SO:0001819	synonymous_variant	64172			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.957A>G	2.37:g.190618648T>C				Silent	SNP	ENST00000264151.5	37	CCDS46472.1																																																																																				0.368	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353		C	190618648	T	C	190618648	2	2	25	1	0	0	0	0	0	0	0	1	11288	1567	55	2		2	OSGEPL1	2	190618648	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10	10977639	190618648	52580725	12	1862											
EEF1B2	1933	broad.mit.edu	37	chr2	207025365	207025365	+	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	tgaagccgtgtccagcccacCgcctgccgacttgtgtcatg	6	9	11	15	3	1	1	1	1	0	0	2	2	2	1	6	0	3	0	6	0	1	1			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:207025365C>T	ENST00000392222.2	+	2	509	c.134C>T	c.(133-135)cCg>cTg	p.P45L	SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.P45L|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.P45L	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TCCAGCCCACCGCCTGCCGAC	0.453																																						.											0													109	100	103					2																	207025365		2203	4300	6503	SO:0001583	missense	1933			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.134C>T	2.37:g.207025365C>T	ENSP00000376056:p.Pro45Leu		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106668	0.56291	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.47	5.47	0.80525	Glutathione S-transferase, C-terminal-like (2);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.88979	2.995	0.80722	D	1	P	0.43431	0.807	B	0.35655	0.207	T	0.69837	-0.5037	10	0.72032	D	0.01	-5.866	19.3282	0.94273	0.0:1.0:0.0:0.0	.	45	P24534	EF1B_HUMAN	L	45	ENSP00000236957:P45L;ENSP00000376055:P45L;ENSP00000376056:P45L;ENSP00000407730:P45L	ENSP00000236957:P45L	P	+	2	0	EEF1B2	206733610	1.000000	0.71417	0.649000	0.29536	0.233000	0.25261	5.440000	0.66563	2.584000	0.87258	0.561000	0.74099	CCG		0.453	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		T	207025365	C	T	207025365	3	4	25	1	0	0	0	0	1	0	0	0	4925	652	23	1	140	1	EEF1B2	2	207025365	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	16406717	207025365	36174008	13	1863											
ALPP	250	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr2	233244614	233244614	+	Missense_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	aggaggggtgccaggacatcGctacgcagctcatctccaac	10	6	12	13	2	2	0	1	0	1	0	4	2	2	2	2	4	4	3	2	4	2	1	rs138033708		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:233244614G>A	ENST00000392027.2	+	5	894	c.625G>A	c.(625-627)Gct>Act	p.A209T	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	209					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)		CCAGGACATCGCTACGCAGCT	0.682													G|||	1	0.000199681	0	0	5008	,	,		18710	0		0	False		,,,				2504	0.001					.											0													69	70	70					2																	233244614		2203	4299	6502	SO:0001583	missense	250			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.625G>A	2.37:g.233244614G>A	ENSP00000375881:p.Ala209Thr		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449547	0.43531	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.31	1.36	0.22044	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.88842	2.985	0.53005	D	0.999963	D	0.89917	1.0	D	0.70016	0.967	D	0.96819	0.9602	10	0.66056	D	0.02	.	9.4929	0.38971	0.0:0.0:0.6243:0.3757	.	209	P05187	PPB1_HUMAN	T	209	ENSP00000375881:A209T	ENSP00000375881:A209T	A	+	1	0	ALPP	232952858	0.743000	0.28239	0.326000	0.25389	0.024000	0.10985	0.952000	0.29149	0.266000	0.21894	0.298000	0.19748	GCT		0.682	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		A	233244614	G	A	233244614	3	1	25	1	0	0	0	0	1	0	0	0	548	1087	38	1	643	1	ALPP	2	233244614	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	26219249	233244614	9954759	14	1864											
LRRN1	57633	bcgsc.ca	37	chr3	3887089	3887089	+	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	taacaaactggttaaagtccCtcaacttgccctgcaaaaag	15	9	6	11	0	1	0	1	0	0	0	2	0	2	0	2	1	5	2	2	1	7	3			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:3887089C>A	ENST00000319331.3	+	2	1525	c.764C>A	c.(763-765)cCt>cAt	p.P255H	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	255						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GTTAAAGTCCCTCAACTTGCC	0.403																																						.											0													79	87	84					3																	3887089		2202	4300	6502	SO:0001583	missense	57633			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.764C>A	3.37:g.3887089C>A	ENSP00000314901:p.Pro255His		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296416	0.81025	.	.	ENSG00000175928	ENST00000319331	T	0.34472	1.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65598	-0.6129	10	0.54805	T	0.06	.	19.313	0.94199	0.0:1.0:0.0:0.0	.	255	Q6UXK5	LRRN1_HUMAN	H	255	ENSP00000314901:P255H	ENSP00000314901:P255H	P	+	2	0	LRRN1	3862089	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.755000	0.85180	2.557000	0.86248	0.585000	0.79938	CCT		0.403	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		A	3887089	C	A	3887089	3	1	25	1	0	0	0	0	1	0	0	0	9034	681	24	5	766	5	LRRN1	3	3887089	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		3887089	194135341	15	1865											
TRANK1	9881	bcgsc.ca	37	chr3	36898643	36898643	+	Missense_Mutation	SNP	T	T	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	gaatggcaaggatgattttcTtcttgatgaccttggtcatt	9	16	10	6	0	3	3	1	3	2	0	3	5	3	4	1	3	0	1	1	3	2	6			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:36898643T>C	ENST00000429976.2	-	12	2685	c.2438A>G	c.(2437-2439)aAg>aGg	p.K813R	TRANK1_ENST00000301807.6_Missense_Mutation_p.K263R|TRANK1_ENST00000428977.2_Missense_Mutation_p.K263R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	813							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						GATGATTTTCTTCTTGATGAC	0.507																																						.											0													171	168	169					3																	36898643		2012	4168	6180	SO:0001583	missense	9881			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.2438A>G	3.37:g.36898643T>C	ENSP00000416168:p.Lys813Arg		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	10.38	1.333210	0.24167	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32988	1.43;1.83;1.43	5.64	3.29	0.37713	.	0.193295	0.37304	N	0.002150	T	0.15522	0.0374	N	0.14661	0.345	0.28734	N	0.902325	B	0.16166	0.016	B	0.10450	0.005	T	0.10965	-1.0607	10	0.30078	T	0.28	.	6.672	0.23074	0.0:0.1436:0.1404:0.716	.	813	O15050	TRNK1_HUMAN	R	263;813;263	ENSP00000416826:K263R;ENSP00000416168:K813R;ENSP00000301807:K263R	ENSP00000301807:K263R	K	-	2	0	TRANK1	36873647	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.181000	0.42547	1.093000	0.41377	0.533000	0.62120	AAG		0.507	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		C	36898643	T	C	36898643	3	2	25	1	0	0	0	0	1	0	0	0	16451	1609	56	2	6387	2	TRANK1	3	36898643	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	33011554	36898643	161123787	16	1866											
ITGA9	3680	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	37785427	37785427	+	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	cctctttcagaatcatgtctCcaacctcctttgtatatggc	8	15	5	13	0	4	1	2	0	2	1	6	1	5	1	4	1	1	1	4	1	4	4			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:37785427C>A	ENST00000264741.5	+	22	2591	c.2335C>A	c.(2335-2337)Cca>Aca	p.P779T	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	779					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)		AATCATGTCTCCAACCTCCTT	0.483																																						.											0													159	128	138					3																	37785427		2203	4300	6503	SO:0001583	missense	3680			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.2335C>A	3.37:g.37785427C>A	ENSP00000264741:p.Pro779Thr		Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144022	0.77888	.	.	ENSG00000144668	ENST00000264741	T	0.74632	-0.86	5.41	5.41	0.78517	Integrin alpha-2 (1);	0.051257	0.85682	D	0.000000	D	0.86715	0.5999	M	0.77103	2.36	0.58432	D	0.999997	D	0.69078	0.997	D	0.77557	0.99	D	0.87897	0.2688	10	0.87932	D	0	.	18.3243	0.90248	0.0:1.0:0.0:0.0	.	779	Q13797	ITA9_HUMAN	T	779	ENSP00000264741:P779T	ENSP00000264741:P779T	P	+	1	0	ITGA9	37760431	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.900000	0.69853	2.686000	0.91538	0.655000	0.94253	CCA		0.483	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		A	37785427	C	A	37785427	3	1	25	1	0	0	0	0	1	0	0	0	7883	855	30	5	2421	5	ITGA9	3	37785427	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	886784	37785427	160237003	17	1867											
CCDC13	152206	hgsc.bcm.edu	37	chr3	42777231	42777231	+	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	ttgtccgatctccatctccaGctgtcgcactttggcctccc	4	13	7	17	2	2	0	0	0	2	0	7	1	4	0	5	1	1	2	5	1	0	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:42777231G>A	ENST00000310232.6	-	10	1422	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	447										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCATCTCCAGCTGTCGCACT	0.602																																						.											0													128	115	119					3																	42777231		2203	4300	6503	SO:0001819	synonymous_variant	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1339C>T	3.37:g.42777231G>A				Silent	SNP	ENST00000310232.6	37	CCDS2705.1																																																																																				0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		A	42777231	G	A	42777231	2	1	25	1	0	0	0	0	0	0	0	1	2765	962	34	4		4	CCDC13	3	42777231	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	4991804	42777231	155245199	18	1868											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	47084094	47084094	+	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	aatcttcccttctggatctcGagctgtcttccagttgggag	6	14	10	11	1	4	0	0	0	4	0	7	3	6	2	2	2	1	2	2	2	1	4			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:47084094G>A	ENST00000409792.3	-	17	7237	c.7195C>T	c.(7195-7197)Cga>Tga	p.R2399*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2399	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1896*(2)|p.R2399*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTGGATCTCGAGCTGTCTTC	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																	.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	4	Substitution - Nonsense(4)	large_intestine(2)|breast(2)											113	112	112					3																	47084094		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7195C>T	3.37:g.47084094G>A	ENSP00000386759:p.Arg2399*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	48	14.190842	0.99783	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.51	3.7	0.42460	.	0.000000	0.43110	D	0.000617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4304	0.44405	0.0695:0.0:0.796:0.1346	.	.	.	.	X	2399	.	ENSP00000386759:R2399X	R	-	1	2	SETD2	47059098	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.171000	0.50824	0.685000	0.31468	-0.182000	0.12963	CGA		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47084094	G	A	47084094	4	1	25	1	0	0	0	0	0	1	0	0	14131	1066	37	1	519	1	SETD2	3	47084094	Nonsense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	4306863	47084094	150938336	19	1869											
ATP11B	23200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	182631695	182631695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttggactccatgtgctGtttcccggaaggagaagcag	8	10	14	9	1	0	1	0	0	0	1	2	4	2	3	2	3	3	4	2	3	2	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:182631695G>T	ENST00000323116.5	+	29	3625	c.3365G>T	c.(3364-3366)tGt>tTt	p.C1122F		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1122					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)			TCCATGTGCTGTTTCCCGGAA	0.453																																						.											0													251	244	247					3																	182631695		2203	4300	6503	SO:0001583	missense	23200			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.3365G>T	3.37:g.182631695G>T	ENSP00000321195:p.Cys1122Phe		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206191	0.79127	.	.	ENSG00000058063	ENST00000323116;ENST00000484691	T	0.38887	1.11	5.24	5.24	0.73138	.	0.431079	0.26567	N	0.023660	T	0.51432	0.1674	M	0.67953	2.075	0.80722	D	1	P;P	0.50710	0.938;0.664	P;B	0.47470	0.548;0.216	T	0.50398	-0.8833	10	0.35671	T	0.21	.	19.1816	0.93625	0.0:0.0:1.0:0.0	.	696;1122	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	F	1122;100	ENSP00000321195:C1122F	ENSP00000321195:C1122F	C	+	2	0	ATP11B	184114389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.374000	0.90133	2.601000	0.87937	0.655000	0.94253	TGT		0.453	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		T	182631695	G	T	182631695	3	4	25	1	0	0	0	0	1	0	0	0	1120	1377	48	5	3479	5	ATP11B	3	182631695	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	135547601	182631695	15390735	20	1870											
DGKQ	1609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	956357	956357	+	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	tacggagaacgggtcctcgcCgctgtagcccgccccccagc	6	5	12	18	5	0	1	0	0	0	1	2	2	1	1	6	2	4	2	6	2	3	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr4:956357C>T	ENST00000273814.3	-	18	2153	c.2080G>A	c.(2080-2082)Ggc>Agc	p.G694S	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	694	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)			GGGTCCTCGCCGCTGTAGCCC	0.662																																					Esophageal Squamous(17;537 645 4447 26373)	.											0													47	46	46					4																	956357		2200	4299	6499	SO:0001583	missense	1609			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.2080G>A	4.37:g.956357C>T	ENSP00000273814:p.Gly694Ser		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333433	0.81801	.	.	ENSG00000145214	ENST00000273814	T	0.21361	2.01	4.9	4.9	0.64082	Diacylglycerol kinase, catalytic domain (3);	0.100622	0.64402	D	0.000002	T	0.34687	0.0906	L	0.38692	1.165	0.58432	D	0.999996	D;D	0.76494	0.998;0.999	P;D	0.63703	0.806;0.917	T	0.05241	-1.0897	10	0.56958	D	0.05	.	15.9132	0.79488	0.0:1.0:0.0:0.0	.	694;694	E9KL49;P52824	.;DGKQ_HUMAN	S	694	ENSP00000273814:G694S	ENSP00000273814:G694S	G	-	1	0	DGKQ	946357	0.798000	0.28890	0.638000	0.29380	0.430000	0.31655	1.737000	0.38197	2.395000	0.81488	0.655000	0.94253	GGC		0.662	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			T	956357	C	T	956357	3	4	25	1	0	0	0	0	1	0	0	0	4473	652	23	1	772	1	DGKQ	4	956357	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		956357	190197919	21	1871											
ARSK	153642	broad.mit.edu;hgsc.bcm.edu	37	chr5	94936601	94936601	+	Frame_Shift_Del	DEL	C	C	-																															tgagtggatactctttgttgCcgttatcatcagaaacattt																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr5:94936601delC	ENST00000380009.4	+	7	1352	c.1147delC	c.(1147-1149)ccgfs	p.P383fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	383					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTCTTTGTTGCCGTTATCATC	0.358																																						.											0													140	137	138					5																	94936601		2203	4300	6503	SO:0001589	frameshift_variant	153642				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1147delC	5.37:g.94936601delC	ENSP00000369346:p.Pro383fs		A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Frame_Shift_Del	DEL	ENST00000380009.4	37	CCDS4073.1																																																																																				0.358	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		-	94936601	C	-	94936601	7	5	25	1	0	1	0	1	0	0	0	0	996	739	26	0	1173	0	ARSK	5	94936601	Frame_Shift_Del	DEL	C	TCGA-KM-8438-01A-11D-2310-10		94936601	85978659	22	1872	52	2									
ARSK	153642	bcgsc.ca	37	chr5	94936602	94936602	+	Frame_Shift_Del	DEL	C	C	-																															gagtggatactctttgttgcCgttatcatcagaaacattta																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr5:94936602delC	ENST00000380009.4	+	7	1353	c.1148delC	c.(1147-1149)ccgfs	p.P383fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	383					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTTTGTTGCCGTTATCATCA	0.363																																						.											0													141	138	139					5																	94936602		2203	4300	6503	SO:0001589	frameshift_variant	153642				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1148delC	5.37:g.94936602delC	ENSP00000369346:p.Pro383fs		A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Frame_Shift_Del	DEL	ENST00000380009.4	37	CCDS4073.1																																																																																				0.363	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		-	94936602	C	-	94936602	7	5	25	1	0	1	0	1	0	0	0	0	996	652	23	0	1174	0	ARSK	5	94936602	Frame_Shift_Del	DEL	C	TCGA-KM-8438-01A-11D-2310-10	1	94936602	85978658	23	1873	52	2									
RNF39	80352	ucsc.edu;bcgsc.ca	37	chr6	30043356	30043356	+	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	ccccgggcccagctcgggcgCatccatggaaagccaggatc	8	4	13	16	3	0	0	0	0	0	0	3	2	1	2	5	4	2	2	5	4	1	0			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr6:30043356C>T	ENST00000244360.6	-	1	308	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	RNF39_ENST00000376751.3_Missense_Mutation_p.A71T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	71						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										AGCTCGGGCGCATCCATGGAA	0.706																																					NSCLC(8;188 360 1520 20207 31481)	.											0													13	16	15					6																	30043356		2199	4296	6495	SO:0001583	missense	80352			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.211G>A	6.37:g.30043356C>T	ENSP00000244360:p.Ala71Thr		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	15.90	2.968922	0.53614	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70516	-0.01;-0.49	3.81	1.81	0.25067	.	.	.	.	.	T	0.32823	0.0842	L	0.31157	0.91	0.23632	N	0.99724	B;P	0.36535	0.421;0.557	B;B	0.33750	0.081;0.169	T	0.05517	-1.0880	9	0.27785	T	0.31	.	6.7546	0.23505	0.0:0.713:0.1793:0.1077	.	71;71	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	T	71	ENSP00000365942:A71T;ENSP00000244360:A71T	ENSP00000244360:A71T	A	-	1	0	RNF39	30151335	0.018000	0.18449	0.962000	0.40283	0.892000	0.51952	0.642000	0.24735	0.732000	0.32470	0.436000	0.28706	GCG		0.706	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		T	30043356	C	T	30043356	3	4	25	1	0	0	0	0	1	0	0	0	13491	710	25	4	1067	4	RNF39	6	30043356	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		30043356	141071711	24	1874											
HLA-DRB1	3123	mdanderson.org	37	chr6	32557477	32557477	+	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	caccatcagtgtcactgtcaGcgctgtcatgcaggagcctc	8	9	10	14	1	4	0	4	0	0	0	5	1	4	1	2	1	3	2	2	1	0	0	rs150644773	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr6:32557477G>A	ENST00000360004.5	-	1	148	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	15					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)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTCACTGTCAGCGCTGTCATG	0.592										Multiple Myeloma(14;0.17)																												.											0													87	106	99					6																	32557477		1511	2709	4220	SO:0001819	synonymous_variant	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.43C>T	6.37:g.32557477G>A			P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																				0.592	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32557477	G	A	32557477	2	1	25	1	0	0	0	0	0	0	0	1	7208	962	34	4		4	HLA-DRB1	6	32557477	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	2514121	32557477	138557590	25	1875											
COL12A1	1303	broad.mit.edu;bcgsc.ca	37	chr6	75875301	75875301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaaattctgtatttggTctctggctgcagattttcta	8	18	8	7	0	3	2	0	1	3	1	4	2	3	2	0	2	2	3	0	2	4	7			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr6:75875301T>C	ENST00000322507.8	-	14	3214	c.2905A>G	c.(2905-2907)Acc>Gcc	p.T969A	COL12A1_ENST00000416123.2_Missense_Mutation_p.T969A|COL12A1_ENST00000483888.2_Missense_Mutation_p.T969A|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	969	Fibronectin type-III 6. {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						CTGTATTTGGTCTCTGGCTGC	0.413																																						.											0													133	129	130					6																	75875301		1890	4114	6004	SO:0001583	missense	1303			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.2905A>G	6.37:g.75875301T>C	ENSP00000325146:p.Thr969Ala		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370089	0.82573	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.61627	0.09;0.09;0.09	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.74974	0.3787	M	0.87381	2.88	0.54753	D	0.99998	D	0.76494	0.999	D	0.85130	0.997	T	0.80158	-0.1499	10	0.62326	D	0.03	.	15.6872	0.77421	0.0:0.0:0.0:1.0	.	969	Q99715	COCA1_HUMAN	A	969	ENSP00000325146:T969A;ENSP00000412864:T969A;ENSP00000421216:T969A	ENSP00000325146:T969A	T	-	1	0	COL12A1	75932021	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.466000	0.80914	2.100000	0.63781	0.533000	0.62120	ACC		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75875301	T	C	75875301	3	2	25	1	0	0	0	0	1	0	0	0	3669	1667	58	2	6498	2	COL12A1	6	75875301	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	43317824	75875301	95239766	26	1876											
ARPC1B	10095	bcgsc.ca	37	chr7	98988571	98988571	+	Missense_Mutation	SNP	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	ggccggcacccaccccgtggGgctccaagatgccctttggg	5	6	14	16	2	0	1	0	0	0	1	1	1	1	1	6	5	1	2	6	5	1	1			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:98988571G>T	ENST00000451682.1	+	8	865	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C	ARPC1B_ENST00000252725.5_Missense_Mutation_p.G186C|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	186					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)			CACCCCGTGGGGCTCCAAGAT	0.597																																						.											0													49	48	48					7																	98988571		2203	4300	6503	SO:0001583	missense	10095			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.556G>T	7.37:g.98988571G>T	ENSP00000389631:p.Gly186Cys		Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767210	0.90020	.	.	ENSG00000130429	ENST00000252725;ENST00000451682	T;T	0.67171	-0.25;-0.25	5.81	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.88995	0.3417	10	0.72032	D	0.01	-55.2488	14.663	0.68888	0.0705:0.0:0.9295:0.0	.	186;186	A4D275;O15143	.;ARC1B_HUMAN	C	186	ENSP00000252725:G186C;ENSP00000389631:G186C	ENSP00000252725:G186C	G	+	1	0	ARPC1B	98826507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.764000	0.98949	1.469000	0.48083	0.561000	0.74099	GGC		0.597	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		T	98988571	G	T	98988571	3	4	25	1	0	0	0	0	1	0	0	0	970	1232	43	5	574	5	ARPC1B	7	98988571	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		98988571	60150092	27	1877											
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-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	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																													.											0			GRCh37	CM993855	CFTR	M							18	18	18					7																	117188705		2198	4290	6488	SO:0001583	missense	1080	Familial Cancer Database	CF	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		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	25	1	0	0	0	0	1	0	0	0	3294	246	9	5	1258	5	CFTR	7	117188705	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	18200134	117188705	41949958	28	1878											
LMOD2	442721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	123302156	123302156	+	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	tttaaaagtcaaatagagaaCataaatttgaccaatggcag	19	10	7	5	0	1	2	1	1	0	1	1	3	1	2	1	1	1	1	1	1	8	5			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:123302156C>A	ENST00000458573.2	+	2	673	c.516C>A	c.(514-516)aaC>aaA	p.N172K	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	172						cytoskeleton (GO:0005856)											AAATAGAGAACATAAATTTGA	0.393																																						.											0													39	39	39					7																	123302156		1902	4103	6005	SO:0001583	missense	442721			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.516C>A	7.37:g.123302156C>A	ENSP00000411932:p.Asn172Lys		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	4.545	0.101182	0.08731	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.89050	-2.46	5.22	3.37	0.38596	.	.	.	.	.	D	0.83538	0.5276	M	0.61703	1.905	0.58432	D	0.999996	B	0.27625	0.183	B	0.19666	0.026	T	0.75747	-0.3209	9	0.14252	T	0.57	-15.6113	8.691	0.34267	0.0:0.6316:0.0:0.3684	.	172	Q6P5Q4	LMOD2_HUMAN	K	172;132;143	ENSP00000411932:N172K	ENSP00000405123:N143K	N	+	3	2	LMOD2	123089392	0.097000	0.21791	0.975000	0.42487	0.913000	0.54294	-0.128000	0.10531	1.168000	0.42723	0.591000	0.81541	AAC		0.393	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			A	123302156	C	A	123302156	3	1	25	1	0	0	0	0	1	0	0	0	8857	477	17	5	522	5	LMOD2	7	123302156	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	6113451	123302156	35836507	29	1879											
GCC1	79571	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	127224826	127224826	+	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	ctgctactgctaacgccactCtcggaccaactggcctcttc	7	10	7	17	2	2	0	0	0	2	0	4	1	2	1	3	2	5	2	3	2	3	3			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:127224826C>A	ENST00000321407.2	-	1	835	c.411G>T	c.(409-411)gaG>gaT	p.E137D	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	137					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TAACGCCACTCTCGGACCAAC	0.577																																						.											0													135	124	128					7																	127224826		2203	4300	6503	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.411G>T	7.37:g.127224826C>A	ENSP00000318821:p.Glu137Asp		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269087	0.23221	.	.	ENSG00000179562	ENST00000321407	T	0.14022	2.54	5.89	5.01	0.66863	.	0.251271	0.42294	D	0.000738	T	0.15003	0.0362	L	0.39397	1.21	0.50467	D	0.999871	B	0.29936	0.262	B	0.34489	0.184	T	0.02471	-1.1154	10	0.23302	T	0.38	-31.1941	15.946	0.79792	0.0:0.9272:0.0:0.0728	.	137	Q96CN9	GCC1_HUMAN	D	137	ENSP00000318821:E137D	ENSP00000318821:E137D	E	-	3	2	GCC1	127012062	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	2.048000	0.41278	0.844000	0.35094	-0.797000	0.03246	GAG		0.577	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		A	127224826	C	A	127224826	3	1	25	1	0	0	0	0	1	0	0	0	6285	912	32	5	1924	5	GCC1	7	127224826	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	3922670	127224826	31913837	30	1880											
SLC4A2	6522	broad.mit.edu;hgsc.bcm.edu	37	chr7	150772848	150772851	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															ccaaacaccacccagatgtcActtacgtcaagaaggtgagc																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	ACTT	ACTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:150772848_150772851delACTT	ENST00000485713.1	+	21	4497_4500	c.3457_3460delACTT	c.(3457-3462)acttacfs	p.TY1153fs	SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.TY1144fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.TY1139fs|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.TY1153fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.TY1071fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1153	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)		CCCAGATGTCACTTACGTCAAGAA	0.588																																						.											0																																										SO:0001589	frameshift_variant	6522				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.3457_3460delACTT	7.37:g.150772848_150772851delACTT	ENSP00000419412:p.Thr1153fs		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Del	DEL	ENST00000485713.1	37	CCDS5917.1																																																																																				0.588	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		-	150772851	ACTT	-	150772848	7	5	25	1	0	1	0	1	0	0	0	0	14654	159	6	0	3535	0	SLC4A2	7	150772848	Frame_Shift_Del	DEL	ACTT	TCGA-KM-8438-01A-11D-2310-10	23548022	150772848	8365815	31	1881	53	2									
SLC4A2	6522	bcgsc.ca	37	chr7	150772849	150772852	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															caaacaccacccagatgtcaCttacgtcaagaaggtgagcc																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	ACTT	ACTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:150772849_150772852delACTT	ENST00000485713.1	+	21	4498_4501	c.3458_3461delACTT	c.(3457-3462)aacttcfs	p.NF1153fs	SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.NF1144fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.NF1139fs|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.NF1153fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.NF1071fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1153	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)		CCAGATGTCACTTACGTCAAGAAG	0.593																																						.											0																																										SO:0001589	frameshift_variant	6522				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.3458_3461delACTT	7.37:g.150772849_150772852delACTT	ENSP00000419412:p.Asn1153fs		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Del	DEL	ENST00000485713.1	37	CCDS5917.1																																																																																				0.593	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		-	150772852	ACTT	-	150772849	7	5	25	1	0	1	0	1	0	0	0	0	14654	565	20	0	3536	0	SLC4A2	7	150772849	Frame_Shift_Del	DEL	ACTT	TCGA-KM-8438-01A-11D-2310-10	1	150772849	8365814	32	1882	53	2									
MLL3	58508	mdanderson.org	37	chr7	151945349	151945349	+	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	agaattttctttctgttcctTttctccttgtagcctttcta	5	22	4	10	0	4	1	0	0	4	1	6	1	5	1	3	0	1	2	3	0	3	10	rs201039690		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:151945349T>A	ENST00000262189.6	-	14	2388	c.2170A>T	c.(2170-2172)Aag>Tag	p.K724*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.K724*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	724					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.K724*(4)									TTCTGTTCCTTTTCTCCTTGT	0.398																																						.											4	Substitution - Nonsense(4)	kidney(2)|skin(2)											70	69	69					7																	151945349		2203	4300	6503	SO:0001587	stop_gained	58508			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.2170A>T	7.37:g.151945349T>A	ENSP00000262189:p.Lys724*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	37	6.120169	0.97300	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.13	-1.83	0.07833	.	0.648456	0.13994	N	0.348586	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	1.3853	0.02239	0.12:0.2536:0.2465:0.3799	.	.	.	.	X	724	.	ENSP00000262189:K724X	K	-	1	0	MLL3	151576282	0.000000	0.05858	0.029000	0.17559	0.083000	0.17756	-0.061000	0.11693	-0.613000	0.05694	-0.321000	0.08615	AAG		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151945349	T	A	151945349	4	1	25	1	0	0	0	0	0	1	0	0	9622	1850	64	5	12749	5	MLL3	7	151945349	Nonsense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	1172500	151945349	7193314	33	1883											
EFHA2	286097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	16935352	16935352	+	Nonsense_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	aaggctcatcgaagctatttCgaaatcttaaagaaaaaggt	17	10	8	6	2	2	1	1	0	1	1	4	3	2	1	0	2	1	2	0	2	8	3	rs150021056		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:16935352C>T	ENST00000318063.5	+	4	670	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	210						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R210*(2)									GAAGCTATTTCGAAATCTTAA	0.303																																						.											2	Substitution - Nonsense(2)	large_intestine(1)|skin(1)						C	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	66	62	63		628	3	1	8	dbSNP_134	63	0,8598		0,0,4299	yes	stop-gained	EFHA2	NM_181723.2		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		210/531	16935352	2,13002	2203	4299	6502	SO:0001587	stop_gained	286097			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.628C>T	8.37:g.16935352C>T	ENSP00000321455:p.Arg210*		Q8IYZ3	Nonsense_Mutation	SNP	ENST00000318063.5	37	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.028534|3.028534	0.54790|0.54790	4.54E-4|4.54E-4	0.0|0.0	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000517398	.|.	.|.	.|.	4.88|4.88	3.05|3.05	0.35203|0.35203	.|.	0.148150|.	0.46758|.	D|.	0.000269|.	.|T	.|0.51500	.|0.1678	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59386	.|-0.7464	.|3	0.07644|.	T|.	0.81|.	-27.3167|-27.3167	9.9373|9.9373	0.41559|0.41559	0.1382:0.7888:0.0:0.073|0.1382:0.7888:0.0:0.073	.|.	.|.	.|.	.|.	X|L	210|49	.|.	ENSP00000321455:R210X|.	R|S	+|+	1|2	2|0	EFHA2|EFHA2	16979723|16979723	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.792000|0.792000	0.44763|0.44763	3.275000|3.275000	0.51639|0.51639	0.564000|0.564000	0.29238|0.29238	-0.535000|-0.535000	0.04281|0.04281	CGA|TCG		0.303	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		T	16935352	C	T	16935352	4	4	25	1	0	0	0	0	0	1	0	0	4944	876	31	1	642	1	EFHA2	8	16935352	Nonsense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		16935352	129428670	34	1884											
RNF122	79845	broad.mit.edu;bcgsc.ca	37	chr8	33408896	33408896	+	Missense_Mutation	SNP	T	T	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	atcgctcactctgtgcctggTtccgcagtttgctgggagaa	6	12	12	11	2	2	1	1	0	1	1	4	2	3	1	2	2	2	5	2	2	1	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:33408896T>C	ENST00000256257.1	-	3	595	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	65						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTGTGCCTGGTTCCGCAGTTT	0.493																																						.											0													132	113	120					8																	33408896		2203	4300	6503	SO:0001583	missense	79845			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.194A>G	8.37:g.33408896T>C	ENSP00000256257:p.Asn65Ser		Q52LK3	Missense_Mutation	SNP	ENST00000256257.1	37	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444231	0.63067	.	.	ENSG00000133874	ENST00000256257	T	0.30448	1.53	5.88	5.88	0.94601	.	0.088003	0.85682	D	0.000000	T	0.19565	0.0470	N	0.14661	0.345	0.39976	D	0.974855	B	0.06786	0.001	B	0.04013	0.001	T	0.10291	-1.0636	10	0.21540	T	0.41	-33.6107	14.5307	0.67923	0.0:0.0:0.0:1.0	.	65	Q9H9V4	RN122_HUMAN	S	65	ENSP00000256257:N65S	ENSP00000256257:N65S	N	-	2	0	RNF122	33528438	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.110000	0.77069	2.246000	0.74042	0.533000	0.62120	AAC		0.493	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		C	33408896	T	C	33408896	3	2	25	1	0	0	0	0	1	0	0	0	13432	1725	60	2	289	2	RNF122	8	33408896	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	16473544	33408896	112955126	35	1885											
RP1	6101	bcgsc.ca	37	chr8	55538990	55538990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctgggtatttgagaggaAtggcaaagaagagtttagtt	13	12	13	3	0	1	3	0	1	1	3	1	5	1	4	0	3	0	4	0	3	5	5	rs112884043		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:55538990A>G	ENST00000220676.1	+	4	2696	c.2548A>G	c.(2548-2550)Atg>Gtg	p.M850V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	850					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTGAGAGGAATGGCAAAGAA	0.343																																					Colon(91;1014 1389 7634 14542 40420)	.											0													44	47	46					8																	55538990		2203	4299	6502	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2548A>G	8.37:g.55538990A>G	ENSP00000220676:p.Met850Val			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	6.248	0.413831	0.11812	.	.	ENSG00000104237	ENST00000220676	T	0.50277	0.75	5.63	0.138	0.14793	.	0.513050	0.19509	N	0.112549	T	0.29061	0.0722	L	0.43152	1.355	0.23416	N	0.997725	B	0.26318	0.146	B	0.15870	0.014	T	0.08953	-1.0697	10	0.25751	T	0.34	.	2.7202	0.05199	0.622:0.1239:0.1352:0.119	.	850	P56715	RP1_HUMAN	V	850	ENSP00000220676:M850V	ENSP00000220676:M850V	M	+	1	0	RP1	55701543	0.214000	0.23563	0.390000	0.26220	0.771000	0.43674	0.675000	0.25232	0.073000	0.16731	0.533000	0.62120	ATG		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		G	55538990	A	G	55538990	3	3	25	1	0	0	0	0	1	0	0	0	13532	101	4	4	2558	4	RP1	8	55538990	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	22130094	55538990	90825032	36	1886											
FAM82B	51115	broad.mit.edu;hgsc.bcm.edu	37	chr8	87487151	87487154	+	Frame_Shift_Del	DEL	AAGT	AAGT	-																															aagtatgtctttcctaaaagAagtaagtttttgctgtagaa																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:87487151_87487154delAAGT	ENST00000406452.3	-	9	948_951	c.789_792delACTT	c.(787-792)ttacttfs	p.LL265fs	RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Frame_Shift_Del_p.LL235fs|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	265						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TTCCTAAAAGAAGTAAGTTTTTGC	0.368																																						.											0																																										SO:0001589	frameshift_variant	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.789_792delACTT	8.37:g.87487155_87487158delAAGT	ENSP00000385927:p.Leu265fs		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Frame_Shift_Del	DEL	ENST00000406452.3	37	CCDS34918.1																																																																																				0.368	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		-	87487154	AAGT	-	87487151	7	5	25	1	0	1	0	1	0	0	0	0	5632	233	9	0	160	0	FAM82B	8	87487151	Frame_Shift_Del	DEL	AAGT	TCGA-KM-8438-01A-11D-2310-10	31948161	87487151	58876871	37	1887	54	2									
FAM82B	51115	bcgsc.ca	37	chr8	87487152	87487155	+	Frame_Shift_Del	DEL	AAGT	AAGT	-																															agtatgtctttcctaaaagaAgtaagtttttgctgtagaag																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:87487152_87487155delAAGT	ENST00000406452.3	-	9	947_950	c.788_791delACTT	c.(787-792)tactttfs	p.YF263fs	RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Frame_Shift_Del_p.YF233fs|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	263						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCCTAAAAGAAGTAAGTTTTTGCT	0.368																																						.											0																																										SO:0001589	frameshift_variant	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.788_791delACTT	8.37:g.87487152_87487155delAAGT	ENSP00000385927:p.Tyr263fs		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Frame_Shift_Del	DEL	ENST00000406452.3	37	CCDS34918.1																																																																																				0.368	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		-	87487155	AAGT	-	87487152	7	5	25	1	0	1	0	1	0	0	0	0	5632	72	3	0	161	0	FAM82B	8	87487152	Frame_Shift_Del	DEL	AAGT	TCGA-KM-8438-01A-11D-2310-10	1	87487152	58876870	38	1888	54	2									
RPL30	6156	ucsc.edu	37	chr8	99054067	99054067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcatgcttctaatgaTgtcagagtcacctaaaaaat	13	13	7	8	0	4	2	2	1	2	1	4	2	4	2	1	1	1	2	1	1	4	4			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:99054067T>C	ENST00000521291.1	-	4	456	c.310A>G	c.(310-312)Atc>Gtc	p.I104V	RPL30_ENST00000287038.3_Missense_Mutation_p.I104V|RPL30_ENST00000396070.2_Missense_Mutation_p.I85V|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000518164.1_Intron|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000523172.1_Missense_Mutation_p.I40V			P62888	RL30_HUMAN	ribosomal protein L30	104					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			CTTCTAATGATGTCAGAGTCA	0.303																																						.											0													51	52	51					8																	99054067		2203	4300	6503	SO:0001583	missense	6156				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"L ribosomal proteins"	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.310A>G	8.37:g.99054067T>C	ENSP00000428085:p.Ile104Val		B2R591|P04645|Q502Z6	Missense_Mutation	SNP	ENST00000521291.1	37	CCDS34928.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.835143	0.50951	.	.	ENSG00000156482	ENST00000521291;ENST00000396070;ENST00000287038;ENST00000523172;ENST00000521726	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.1	3.92	0.45320	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	H	0.95437	3.67	0.58432	D	0.999999	B	0.15141	0.012	B	0.22152	0.038	T	0.65961	-0.6041	10	0.66056	D	0.02	-2.787	10.1382	0.42719	0.1491:0.0:0.0:0.8509	.	104	P62888	RL30_HUMAN	V	104;85;104;40;104	ENSP00000428085:I104V;ENSP00000287038:I104V;ENSP00000430506:I40V;ENSP00000429483:I104V	ENSP00000287038:I104V	I	-	1	0	RPL30	99123243	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.529000	0.81952	0.854000	0.35336	0.454000	0.30748	ATC		0.303	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380450.1			C	99054067	T	C	99054067	3	2	25	1	0	0	0	0	1	0	0	0	13580	1464	51	4	41	4	RPL30	8	99054067	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	11566915	99054067	47309955	39	1889											
FLJ46321	389763	mdanderson.org	37	chr9	84607651	84607651	+	Missense_Mutation	SNP	T	T	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	catcaagcttccctagaagcTtccacgagaggagctcaaat	13	8	8	12	1	2	2	2	0	0	2	4	4	4	3	2	1	3	3	2	1	4	3			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr9:84607651T>C	ENST00000344803.2	+	4	2313	c.2266T>C	c.(2266-2268)Ttc>Ctc	p.F756L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	756					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCTAGAAGCTTCCACGAGAG	0.463																																						.											0													50	45	47					9																	84607651		1814	4071	5885	SO:0001583	missense	389763				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.2266T>C	9.37:g.84607651T>C	ENSP00000341988:p.Phe756Leu			Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	8.889	0.953501	0.18431	.	.	ENSG00000214929	ENST00000344803	T	0.05258	3.47	2.81	-1.47	0.08772	.	1.033220	0.07726	N	0.944536	T	0.05044	0.0135	L	0.53249	1.67	0.09310	N	1	P	0.35456	0.502	B	0.34722	0.188	T	0.39057	-0.9632	10	0.10377	T	0.69	-6.7016	0.374	0.00384	0.2211:0.1411:0.2268:0.411	.	756	Q6ZQQ2	F75D1_HUMAN	L	756	ENSP00000341988:F756L	ENSP00000341988:F756L	F	+	1	0	FAM75D1	83797471	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-1.518000	0.02246	-0.290000	0.09025	0.418000	0.28097	TTC		0.463	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		C	84607651	T	C	84607651	3	2	25	1	0	0	0	0	1	0	0	0	5932	1609	56	2	2280	2	FLJ46321	9	84607651	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		84607651	56605780	40	1890											
GAS1	2619	ucsc.edu	37	chr9	89561028	89561028	+	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	ccgctcgaggccgtcgcacaCgcagtcgttgagcagcgccg	6	5	14	16	8	0	1	0	1	0	0	3	2	0	1	3	1	2	5	3	1	0	1			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr9:89561028C>T	ENST00000298743.7	-	1	1076	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	223					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						CCGTCGCACACGCAGTCGTTG	0.677																																						.											0													26	25	25					9																	89561028		2203	4300	6503	SO:0001583	missense	2619				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.667G>A	9.37:g.89561028C>T	ENSP00000298743:p.Val223Met		B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	37	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547253	0.45383	.	.	ENSG00000180447	ENST00000298743	T	0.63255	-0.03	4.49	3.51	0.40186	GDNF/GAS1 (2);	0.098848	0.40640	U	0.001049	T	0.70439	0.3224	L	0.48642	1.525	0.42504	D	0.992941	D	0.89917	1.0	D	0.74674	0.984	T	0.70149	-0.4951	10	0.38643	T	0.18	1.9743	13.1526	0.59498	0.1608:0.8392:0.0:0.0	.	223	P54826	GAS1_HUMAN	M	223	ENSP00000298743:V223M	ENSP00000298743:V223M	V	-	1	0	GAS1	88750848	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	4.172000	0.58243	2.046000	0.60703	0.549000	0.68633	GTG		0.677	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052928.1	NM_002048		T	89561028	C	T	89561028	3	4	25	1	0	0	0	0	1	0	0	0	6244	536	19	1	374	1	GAS1	9	89561028	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	4953377	89561028	51652403	41	1891											
NCS1	23413	ucsc.edu	37	chr9	132934986	132934986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccgaagttgtggaggAgctgaccaggaagacctact	12	6	14	9	1	0	2	0	1	0	1	0	7	0	5	3	3	3	2	3	3	4	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr9:132934986A>G	ENST00000372398.3	+	1	130	c.44A>G	c.(43-45)gAg>gGg	p.E15G		NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	15					calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|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)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)			large_intestine(1)|lung(4)|stomach(1)	6						GTTGTGGAGGAGCTGACCAGG	0.756																																					Melanoma(30;182 1162 22581 33240)	.											0													24	17	20					9																	132934986		2184	4280	6464	SO:0001583	missense	23413			AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"EF-hand domain containing"	3953	protein-coding gene	gene with protein product		603315	"frequenin (Drosophila) homolog", "frequenin homolog (Drosophila)"	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.44A>G	9.37:g.132934986A>G	ENSP00000361475:p.Glu15Gly		E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	a	13.10	2.136236	0.37728	.	.	ENSG00000107130	ENST00000372398	T	0.30981	1.51	2.38	2.38	0.29361	EF-hand-like domain (1);	0.071909	0.53938	U	0.000054	T	0.41604	0.1166	H	0.94964	3.605	0.80722	D	1	B	0.25719	0.132	B	0.18561	0.022	T	0.47699	-0.9097	10	0.62326	D	0.03	.	8.2937	0.31973	1.0:0.0:0.0:0.0	.	15	P62166	NCS1_HUMAN	G	15	ENSP00000361475:E15G	ENSP00000361475:E15G	E	+	2	0	NCS1	131974807	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	2.598000	0.46223	0.850000	0.35239	0.149000	0.16113	GAG		0.756	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		G	132934986	A	G	132934986	3	3	25	1	0	0	0	0	1	0	0	0	10240	304	11	2	46	2	NCS1	9	132934986	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	43373958	132934986	8278445	42	1892											
TUBB8	347688	mdanderson.org	37	chr10	93804	93804	+	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	tagggctccaccacggtgtcCgacaccttgggcgagggcag	7	6	15	13	3	0	0	0	0	0	0	2	2	2	0	4	4	0	2	4	4	1	2	rs9329304	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr10:93804C>T	ENST00000309812.4	-	4	590	c.528G>A	c.(526-528)tcG>tcA	p.S176S	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Silent_p.S104S|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	176					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)		CCACGGTGTCCGACACCTTGG	0.537																																					Pancreas(192;2041 3010 9013 18103)	.											0								T		308,4098	763.7+/-413.2	0,308,1895	102	92	95		528		0.2	10	dbSNP_119	95	11,8573	794.8+/-407.5	0,11,4281	no	coding-synonymous	TUBB8	NM_177987.2		0,319,6176	TT,TC,CC		0.1281,6.9905,2.4557		176/445	93804	319,12671	2203	4292	6495	SO:0001819	synonymous_variant	347688			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.528G>A	10.37:g.93804C>T			Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																				0.537	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	93804	C	T	93804	2	4	25	1	0	0	0	0	0	0	0	1	16758	639	23	1		1	TUBB8	10	93804	Silent	SNP	C	TCGA-KM-8438-01A-11D-2310-10		93804	135440943	43	1893											
MUC6	4588	mdanderson.org	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-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	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																																						.											0													1308	1300	1302					11																	1016871		2203	4299	6502	SO:0001583	missense	4588			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		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	25	1	0	0	0	0	1	0	0	0	9980	1232	43	5	1401	5	MUC6	11	1016871	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		1016871	133989645	44	1894											
MUC6	4588	mdanderson.org	37	chr11	1017152	1017152	+	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	tgggtggaccctgtggccttGatcgtggtcggtggaggaat	5	11	18	7	2	0	1	0	1	0	0	2	4	0	4	2	7	0	0	2	7	1	1			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:1017152G>C	ENST00000421673.2	-	31	5699	c.5649C>G	c.(5647-5649)atC>atG	p.I1883M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1883	Approximate repeats.|Thr-rich.			PTTIKA -> LTTLMN (in Ref. 5; AAA35866). {ECO:0000305}.	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)		CTGTGGCCTTGATCGTGGTCG	0.562																																						.											0													568	561	564					11																	1017152		2202	4287	6489	SO:0001583	missense	4588			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.5649C>G	11.37:g.1017152G>C	ENSP00000406861:p.Ile1883Met		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.422707	0.25639	.	.	ENSG00000184956	ENST00000421673	T	0.22539	1.95	2.4	-2.53	0.06326	.	.	.	.	.	T	0.19127	0.0459	N	0.21448	0.665	0.09310	N	1	D	0.54207	0.965	P	0.59012	0.85	T	0.11470	-1.0586	9	0.33940	T	0.23	.	2.4101	0.04422	0.1196:0.3184:0.3879:0.174	.	1883	Q6W4X9	MUC6_HUMAN	M	1883	ENSP00000406861:I1883M	ENSP00000406861:I1883M	I	-	3	3	MUC6	1007152	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.412000	0.07132	-0.608000	0.05731	-0.657000	0.03884	ATC		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017152	G	C	1017152	3	2	25	1	0	0	0	0	1	0	0	0	9980	1280	45	5	1682	5	MUC6	11	1017152	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	281	1017152	133989364	45	1895											
MUC5B	727897	mdanderson.org	37	chr11	1270383	1270383	+	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	accaccccgggccacaccacGgccacctccaggaccacggc	9	1	9	22	3	0	0	0	0	0	0	1	1	1	1	9	4	0	0	9	4	0	0	rs61869661	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:1270383G>A	ENST00000529681.1	+	31	12331	c.12273G>A	c.(12271-12273)acG>acA	p.T4091T	MUC5B_ENST00000447027.1_Silent_p.T4094T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4091	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)		GCCACACCACGGCCACCTCCA	0.701													G|||	37	0.00738818	0	0.0173	5008	,	,		14467	0.002		0.0199	False		,,,				2504	0.0031					.											0								G		19,4175		1,17,2079	91	126	114		12273	-4.3	0	11	dbSNP_129	114	160,8248		5,150,4049	no	coding-synonymous	MUC5B	NM_002458.2		6,167,6128	AA,AG,GG		1.9029,0.453,1.4204		4091/5763	1270383	179,12423	2097	4204	6301	SO:0001819	synonymous_variant	727897			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.12273G>A	11.37:g.1270383G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.701	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1270383	G	A	1270383	2	1	25	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1270383	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	253231	1270383	133736133	46	1896			1	17		2	2	19	G		5.232974e-05
MUC5B	727897	mdanderson.org	37	chr11	1270401	1270401	+	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	acggccacctccaggaccacGgccacggccacacccagcaa	11	1	9	20	3	0	0	0	0	0	0	1	1	1	1	7	4	1	1	7	4	1	0	rs201512746	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:1270401G>A	ENST00000529681.1	+	31	12349	c.12291G>A	c.(12289-12291)acG>acA	p.T4097T	MUC5B_ENST00000447027.1_Silent_p.T4100T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4097	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)		p.A4055_T4056delAT(1)		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)		CCAGGACCACGGCCACGGCCA	0.711																																						.											1	Deletion - In frame(1)	ovary(1)											68	100	89					11																	1270401		2087	4191	6278	SO:0001819	synonymous_variant	727897			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.12291G>A	11.37:g.1270401G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.711	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1270401	G	A	1270401	2	1	25	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1270401	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	18	1270401	133736115	47	1897			1	17		2	2	19	G		5.232974e-05
TRPM5	29850	mdanderson.org	37	chr11	2435946	2435946	+	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	ccagccgccggtcactcaccAagggccagccgctcgtattt	7	7	10	17	4	2	0	2	0	0	0	3	0	2	0	6	2	2	2	6	2	2	2	rs4929981	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:2435946A>G	ENST00000155858.6	-	11	1751	c.1743T>C	c.(1741-1743)ctT>ctC	p.L581L	TRPM5_ENST00000533060.1_Splice_Site_p.L581L|TRPM5_ENST00000528453.1_Splice_Site_p.L581L|TRPM5_ENST00000452833.1_Splice_Site_p.L583L	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)		gTCACTCACCAAGGGCCAGCC	0.711													A|||	3808	0.760383	0.6286	0.83	5008	,	,		13145	0.9048		0.7117	False		,,,				2504	0.7904				NSCLC(1;49 61 17205 18850 43201)	.											0								A		2544,1064		900,744,160	4	5	5		1743	-0.7	1	11	dbSNP_111	5	5370,1840		2019,1332,254	no	coding-synonymous-near-splice	TRPM5	NM_014555.3		2919,2076,414	GG,GA,AA		25.5201,29.49,26.8441		581/1166	2435946	7914,2904	1804	3605	5409	SO:0001630	splice_region_variant	29850			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.1744+1T>C	11.37:g.2435946A>G				Silent	SNP	ENST00000155858.6	37	CCDS31340.1																																																																																				0.711	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555	Silent	G	2435946	A	G	2435946	5	3	25	1	0	0	0	0	0	0	1	0	16586	144	5	4	1810	4	TRPM5	11	2435946	Splice_Site	SNP	A	TCGA-KM-8438-01A-11D-2310-10	1165545	2435946	132570570	48	1898											
SYT9	143425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	7324616	7324616	+	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	gtcacagagccaacctcgtcGgcccggtcagtaatgccttc	8	8	10	15	3	2	1	2	0	0	1	5	1	2	1	4	2	3	1	4	2	2	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:7324616G>A	ENST00000318881.6	+	2	729	c.492G>A	c.(490-492)tcG>tcA	p.S164S	SYT9_ENST00000396716.2_Silent_p.S132S	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	164					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAACCTCGTCGGCCCGGTCAG	0.587																																						.											0																																										SO:0001819	synonymous_variant	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.492G>A	11.37:g.7324616G>A				Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.587	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		A	7324616	G	A	7324616	2	1	25	1	0	0	0	0	0	0	0	1	15478	1103	39	1		1	SYT9	11	7324616	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	4888670	7324616	127681900	49	1899											
CALCB	797	broad.mit.edu;mdanderson.org	37	chr11	15096731	15096731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagcaggagcaggagAcacagggctccaggtgaggt	12	4	17	8	0	0	3	0	2	0	1	1	5	1	4	1	5	3	4	1	5	1	0			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:15096731A>G	ENST00000533448.1	+	3	322	c.211A>G	c.(211-213)Aca>Gca	p.T71A	CALCB_ENST00000523376.1_Missense_Mutation_p.T82A|CALCB_ENST00000324229.6_Missense_Mutation_p.T71A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	71					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGCAGGAGACACAGGGCTC	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													66	69	68					11																	15096731		2200	4294	6494	SO:0001583	missense	797				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.211A>G	11.37:g.15096731A>G	ENSP00000433490:p.Thr71Ala	700	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	A	3.803	-0.041286	0.07452	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.22743	1.94;1.94;1.94	4.21	-4.08	0.03963	.	0.664761	0.14008	N	0.347681	T	0.10121	0.0248	L	0.39514	1.22	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40534	-0.9558	10	0.08837	T	0.75	-2.6446	1.9945	0.03453	0.4014:0.1338:0.3345:0.1303	.	71	P10092	CALCB_HUMAN	A	82;71;71	ENSP00000428882:T82A;ENSP00000346017:T71A;ENSP00000433490:T71A	ENSP00000346017:T71A	T	+	1	0	CALCB	15053307	0.013000	0.17824	0.000000	0.03702	0.187000	0.23431	0.309000	0.19332	-0.830000	0.04262	0.454000	0.30748	ACA		0.617	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		G	15096731	A	G	15096731	3	3	25	1	0	0	0	0	1	0	0	0	2576	275	10	2	217	2	CALCB	11	15096731	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	7772115	15096731	119909785	50	1900											
FOLH1	2346	mdanderson.org	37	chr11	49204779	49204779	+	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	caacagcctctgcaattccaCgcctataagcatattctgaa	13	10	5	13	1	2	1	0	1	2	0	3	1	3	1	3	0	4	2	3	0	6	5	rs116795343	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	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)	p.R281L(1)		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)	TGCAATTCCACGCCTATAAGC	0.348																																						.											1	Substitution - Missense(1)	lung(1)											72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	2346			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.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49204779	C	T	49204779	3	4	25	1	0	0	0	0	1	0	0	0	5979	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	34108048	49204779	85801737	51	1901			2	18	47934378	2	2	12	N	C_A	3.197961e-05
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-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	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_ENST00000340334.7_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																																						.											0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346			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			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	25	1	0	0	0	0	0	0	0	1	5979	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-KM-8438-01A-11D-2310-10	11	49204790	85801726	52	1902			2	18	47934378	2	2	12	N	C_A	3.197961e-05
OR4D10	390197	broad.mit.edu	37	chr11	59245050	59245050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcatcatggtcactgttAcctgtgaatctcgccttcac	7	14	6	14	1	5	1	4	1	1	0	7	1	6	1	3	1	1	1	3	1	2	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:59245050A>G	ENST00000530162.1	+	1	205	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	50						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						GGTCACTGTTACCTGTGAATC	0.448																																						.											0													188	194	192					11																	59245050		2142	4275	6417	SO:0001583	missense	390197			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.148A>G	11.37:g.59245050A>G	ENSP00000436424:p.Thr50Ala		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	A	5.242	0.230125	0.09969	.	.	ENSG00000254466	ENST00000530162	T	0.01068	5.38	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01353	0.0044	L	0.33189	0.99	0.24281	N	0.995208	P	0.37663	0.604	B	0.38327	0.271	T	0.52631	-0.8550	9	0.40728	T	0.16	.	8.3873	0.32508	0.8249:0.0:0.0:0.1751	.	50	Q8NGI6	OR4DA_HUMAN	A	50	ENSP00000436424:T50A	ENSP00000436424:T50A	T	+	1	0	OR4D10	59001626	0.000000	0.05858	0.669000	0.29828	0.016000	0.09150	0.428000	0.21395	1.733000	0.51620	0.533000	0.62120	ACC		0.448	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		G	59245050	A	G	59245050	3	3	25	1	0	0	0	0	1	0	0	0	11054	391	14	2	150	2	OR4D10	11	59245050	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	10040260	59245050	75761466	53	1903											
TBC1D10C	374403	ucsc.edu	37	chr11	67176906	67176906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgctgtcagagcgggAcctgcagcgggagatcaagg	8	6	18	9	3	2	2	2	0	0	2	2	4	2	3	1	4	4	2	1	4	1	0			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:67176906A>G	ENST00000542590.1	+	9	1036	c.1022A>G	c.(1021-1023)gAc>gGc	p.D341G	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.D341G|TBC1D10C_ENST00000526387.1_Silent_p.G276G			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	341					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCAGAGCGGGACCTGCAGCGG	0.706																																						.											0													4	6	5					11																	67176906		1833	3735	5568	SO:0001583	missense	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1022A>G	11.37:g.67176906A>G	ENSP00000443654:p.Asp341Gly		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312459	0.40895	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.07908	3.15;3.15	5.05	2.62	0.31277	.	0.122213	0.36854	N	0.002374	T	0.07188	0.0182	L	0.36672	1.1	0.53005	D	0.999966	B	0.27416	0.178	B	0.31442	0.13	T	0.32348	-0.9910	10	0.39692	T	0.17	.	6.5476	0.22414	0.6848:0.1611:0.0:0.1541	.	341	Q8IV04	TB10C_HUMAN	G	341	ENSP00000310193:D341G;ENSP00000443654:D341G	ENSP00000310193:D341G	D	+	2	0	TBC1D10C	66933482	0.987000	0.35691	0.962000	0.40283	0.631000	0.37964	2.832000	0.48152	0.357000	0.24183	0.459000	0.35465	GAC		0.706	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		G	67176906	A	G	67176906	3	3	25	1	0	0	0	0	1	0	0	0	15597	275	10	2	1056	2	TBC1D10C	11	67176906	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	7931856	67176906	67829610	54	1904											
PRB1	5542	broad.mit.edu	37	chr12	11506383	11506383	+	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	tgtgggggtggtccttgtggCtttcctggaggagattggga	4	13	19	5	0	0	1	0	0	0	1	2	4	2	3	2	7	0	1	2	7	0	3			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr12:11506383C>T	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							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)			GTCCTTGTGGCTTTCCTGGAG	0.602																																						.											0													10	7	8					12																	11506383		1016	2010	3026	SO:0001627	intron_variant	5542				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.314-59G>A	12.37:g.11506383C>T			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.602	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		T	11506383	C	T	11506383	1	4	25	0	1	0	0	0	0	0	0	0	12442	796	28	4		4	PRB1	12	11506383	Intron	SNP	C	TCGA-KM-8438-01A-11D-2310-10		11506383	122345512	55	1905											
TESC	54997	ucsc.edu	37	chr12	117513078	117513078	+	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	acccgctgccaatcttaccgAatggtaggctgatctccact	9	10	8	14	2	2	1	0	1	2	0	3	2	2	1	4	2	2	3	4	2	4	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr12:117513078A>G	ENST00000335209.7	-	2	312	c.126T>C	c.(124-126)atT>atC	p.I42I	TESC_ENST00000392545.4_Silent_p.I95I|TESC_ENST00000541210.1_Silent_p.I42I			Q96BS2	CHP3_HUMAN	tescalcin	42					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		AATCTTACCGAATGGTAGGCT	0.512																																						.											0													87	84	85					12																	117513078		2203	4300	6503	SO:0001819	synonymous_variant	54997			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.126T>C	12.37:g.117513078A>G			F5H1Y5|Q9NWT9	Silent	SNP	ENST00000335209.7	37	CCDS9183.3																																																																																				0.512	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		G	117513078	A	G	117513078	2	3	25	1	0	0	0	0	0	0	0	1	15763	242	9	4		4	TESC	12	117513078	Silent	SNP	A	TCGA-KM-8438-01A-11D-2310-10	106006695	117513078	16338817	56	1906											
HNF1A	6927	broad.mit.edu;hgsc.bcm.edu	37	chr12	121431369	121431370	+	Frame_Shift_Ins	INS	-	-	G																															tgattgaagagcccacaggtINSgatgagctaccaaccaagaa																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr12:121431369_121431370insG	ENST00000257555.6	+	3	799_800	c.573_574insG	c.(574-576)gatfs	p.D192fs	HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.D192fs|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.D192fs|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.D75fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.D192fs|HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.D192fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	192					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G191fs*26(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCCCACAGGTGATGAGCTACC	0.589									Hepatic Adenoma, Familial Clustering of																													.											1	Deletion - Frameshift(1)	liver(1)																																								SO:0001589	frameshift_variant	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.574dupG	12.37:g.121431370_121431370dupG	ENSP00000257555:p.Asp192fs		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Frame_Shift_Ins	INS	ENST00000257555.6	37	CCDS9209.1																																																																																				0.589	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		G	121431370	-	G	121431369	7	5	25	1	0	1	1	0	0	0	0	0	7251	1683	59	0	583	0	HNF1A	12	121431369	Frame_Shift_Ins	INS	-	TCGA-KM-8438-01A-11D-2310-10	3918291	121431369	12420526	57	1907											
C1QTNF9	338872	mdanderson.org	37	chr13	24895797	24895797	+	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	tgtcctgcagctgaagctcgGggatgaggtgtggctgcagg	6	9	18	8	1	0	2	0	2	0	0	2	3	1	3	1	5	4	5	1	5	1	0			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr13:24895797G>A	ENST00000382071.2	+	4	978	c.893G>A	c.(892-894)gGg>gAg	p.G298E	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E|C1QTNF9-AS1_ENST00000449656.1_RNA|AL359736.1_ENST00000422229.2_5'Flank			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	298	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)		CTGAAGCTCGGGGATGAGGTG	0.507																																						.											0													102	106	105					13																	24895797		2203	4300	6503	SO:0001583	missense	338872			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.893G>A	13.37:g.24895797G>A	ENSP00000371503:p.Gly298Glu		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.980211	0.74474	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.82255	-1.59;-1.59	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.100850	0.64402	D	0.000002	D	0.90154	0.6923	M	0.78285	2.405	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.90374	0.4383	10	0.44086	T	0.13	.	15.5078	0.75753	0.0:0.0:1.0:0.0	.	298	P0C862	C1T9A_HUMAN	E	298	ENSP00000371503:G298E;ENSP00000333737:G298E	ENSP00000333737:G298E	G	+	2	0	C1QTNF9	23793797	1.000000	0.71417	0.915000	0.36163	0.687000	0.40016	6.425000	0.73370	2.180000	0.69256	0.430000	0.28490	GGG		0.507	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		A	24895797	G	A	24895797	3	1	25	1	0	0	0	0	1	0	0	0	1970	1232	43	3	903	3	C1QTNF9	13	24895797	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		24895797	90274081	58	1908											
NIN	51199	mdanderson.org;bcgsc.ca	37	chr14	51237220	51237220	+	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	tgctgcaggatctgctctctCtcttttcggagttcattttt	4	19	8	10	1	4	0	1	0	3	0	7	2	4	2	0	2	3	4	0	2	0	5			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr14:51237220C>A	ENST00000382041.3	-	12	1510	c.1320G>T	c.(1318-1320)gaG>gaT	p.E440D	NIN_ENST00000530997.2_Missense_Mutation_p.E440D|NIN_ENST00000389868.3_Missense_Mutation_p.E440D|NIN_ENST00000382043.4_Missense_Mutation_p.E440D|NIN_ENST00000453196.1_Missense_Mutation_p.E440D|NIN_ENST00000324330.9_Missense_Mutation_p.E440D|NIN_ENST00000245441.5_Missense_Mutation_p.E440D	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	440					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)					TCTGCTCTCTCTCTTTTCGGA	0.448			T	PDGFRB	MPD																																	.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													177	156	163					14																	51237220		2203	4300	6503	SO:0001583	missense	51199			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.1320G>T	14.37:g.51237220C>A	ENSP00000371472:p.Glu440Asp		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	19.78	3.891097	0.72524	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.996	D;D;D;D;D	0.87578	0.998;0.998;0.993;0.991;0.987	T	0.50110	-0.8866	10	0.59425	D	0.04	-18.9462	18.6203	0.91318	0.0:1.0:0.0:0.0	.	446;440;440;440;440	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	D	440;440;440;440;446;440;440;440	ENSP00000245441:E440D;ENSP00000374518:E440D;ENSP00000371474:E440D;ENSP00000371472:E440D;ENSP00000324210:E440D;ENSP00000412391:E440D	ENSP00000245441:E440D	E	-	3	2	NIN	50306970	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	3.064000	0.49986	2.658000	0.90341	0.650000	0.86243	GAG		0.448	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		A	51237220	C	A	51237220	3	1	25	1	0	0	0	0	1	0	0	0	10417	912	32	5	5309	5	NIN	14	51237220	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10		51237220	56112320	59	1909											
MARK3	4140	broad.mit.edu	37	chr14	103941508	103941508	+	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	gcaagtaatcctaataaggcGgatattcctgaacgcaagaa	16	8	9	8	2	0	2	0	1	0	1	2	3	2	3	2	2	1	3	2	2	8	5	rs549864859		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr14:103941508G>A	ENST00000429436.2	+	13	1953	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Silent_p.A504A|MARK3_ENST00000440884.3_Silent_p.A402A|MARK3_ENST00000303622.9_Silent_p.A481A|MARK3_ENST00000335102.5_Silent_p.A504A|MARK3_ENST00000216288.7_Silent_p.A465A|MARK3_ENST00000553942.1_Silent_p.A481A	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	481						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)			CTAATAAGGCGGATATTCCTG	0.483													G|||	1	0.000199681	0	0	5008	,	,		20146	0.001		0	False		,,,				2504	0					.											0													103	100	101					14																	103941508		1941	4132	6073	SO:0001819	synonymous_variant	4140			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.1443G>A	14.37:g.103941508G>A			O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Silent	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381168	0.24944	.	.	ENSG00000075413	ENST00000554627	.	.	.	5.65	-10.3	0.00346	.	.	.	.	.	T	0.32224	0.0822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41592	-0.9500	4	.	.	.	.	2.0884	0.03651	0.2373:0.08:0.2825:0.4002	.	.	.	.	Q	233	.	.	R	+	2	0	MARK3	103011261	0.000000	0.05858	0.826000	0.32828	0.989000	0.77384	-2.962000	0.00672	-1.547000	0.01715	-0.253000	0.11424	CGG		0.483	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		A	103941508	G	A	103941508	2	1	25	1	0	0	0	0	0	0	0	1	9314	1103	39	1		1	MARK3	14	103941508	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	52704288	103941508	3408032	60	1910											
KIF26A	26153	mdanderson.org	37	chr14	104643409	104643409	+	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	cgggccagcaaggtagaagcAgcacaccgtcttgccggaca	11	4	13	13	3	1	1	0	0	1	1	1	2	1	2	3	3	4	4	3	3	3	2	rs2487303	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr14:104643409A>G	ENST00000423312.2	+	12	4284	c.4284A>G	c.(4282-4284)gcA>gcG	p.A1428A	KIF26A_ENST00000315264.7_Silent_p.A1289A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1428					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)		AGGTAGAAGCAGCACACCGTC	0.706													G|||	3872	0.773163	0.826	0.7176	5008	,	,		14740	0.7827		0.7048	False		,,,				2504	0.8016					.											0								G		3386,734		1393,600,67	11	16	14		4284	-7.2	0	14	dbSNP_100	14	6044,2232		2231,1582,325	no	coding-synonymous	KIF26A	NM_015656.1		3624,2182,392	GG,GA,AA		26.9696,17.8155,23.9271		1428/1883	104643409	9430,2966	2060	4138	6198	SO:0001819	synonymous_variant	26153			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.4284A>G	14.37:g.104643409A>G			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.706	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			G	104643409	A	G	104643409	2	3	25	1	0	0	0	0	0	0	0	1	8294	175	7	2		2	KIF26A	14	104643409	Silent	SNP	A	TCGA-KM-8438-01A-11D-2310-10	701901	104643409	2706131	61	1911											
SQRDL	58472	broad.mit.edu;hgsc.bcm.edu	37	chr15	45951304	45951305	+	Frame_Shift_Ins	INS	-	-	A																															gaatcaccatggctgcccgcINSatgaagaggaaagtgggtgc																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:45951304_45951305insA	ENST00000260324.7	+	2	569_570	c.183_184insA	c.(184-186)atgfs	p.M62fs	RP11-96O20.4_ENST00000564080.1_Frame_Shift_Ins_p.M62fs|SQRDL_ENST00000568606.1_Frame_Shift_Ins_p.M62fs	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	62					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)		TGGCTGCCCGCATGAAGAGGAA	0.609																																						.											0																																										SO:0001589	frameshift_variant	58472			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.184dupA	15.37:g.45951305_45951305dupA	ENSP00000260324:p.Met62fs		Q9UQM8	Frame_Shift_Ins	INS	ENST00000260324.7	37	CCDS10127.1																																																																																				0.609	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			A	45951305	-	A	45951304	7	5	25	1	0	1	1	0	0	0	0	0	15128	697	25	0	185	0	SQRDL	15	45951304	Frame_Shift_Ins	INS	-	TCGA-KM-8438-01A-11D-2310-10		45951304	56580088	62	1912	55	2									
SQRDL	58472	bcgsc.ca	37	chr15	45951305	45951306	+	Frame_Shift_Ins	INS	-	-	A																															aatcaccatggctgcccgcaINStgaagaggaaagtgggtgca																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:45951305_45951306insA	ENST00000260324.7	+	2	570_571	c.184_185insA	c.(184-186)atgfs	p.M62fs	RP11-96O20.4_ENST00000564080.1_Frame_Shift_Ins_p.M62fs|SQRDL_ENST00000568606.1_Frame_Shift_Ins_p.M62fs	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	62					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)		GGCTGCCCGCATGAAGAGGAAA	0.609																																						.											0																																										SO:0001589	frameshift_variant	58472			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.184dupA	15.37:g.45951305_45951305dupA	ENSP00000260324:p.Met62fs		Q9UQM8	Frame_Shift_Ins	INS	ENST00000260324.7	37	CCDS10127.1																																																																																				0.609	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			A	45951306	-	A	45951305	7	5	25	1	0	1	1	0	0	0	0	0	15128	217	8	0	186	0	SQRDL	15	45951305	Frame_Shift_Ins	INS	-	TCGA-KM-8438-01A-11D-2310-10	1	45951305	56580087	63	1913	55	2									
DMXL2	23312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	51768854	51768854	+	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	tttctgtccttagtcttctaCgatcacttaaaagaagtcct	10	16	5	10	1	4	1	1	0	3	1	6	2	6	1	2	0	1	0	2	0	5	5	rs200609180	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:51768854C>A	ENST00000251076.5	-	27	7180	c.6893G>T	c.(6892-6894)cGt>cTt	p.R2298L	DMXL2_ENST00000543779.2_Missense_Mutation_p.R2299L|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1662L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2298						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TAGTCTTCTACGATCACTTAA	0.353																																						.											0													147	141	143					15																	51768854		2196	4293	6489	SO:0001583	missense	23312			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.6893G>T	15.37:g.51768854C>A	ENSP00000251076:p.Arg2298Leu		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127413	0.94473	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.25414	1.94;1.94;1.8	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	M	0.65975	2.015	0.80722	D	1	D;D;D;P	0.89917	1.0;0.995;0.997;0.956	D;D;D;P	0.76071	0.985;0.968;0.987;0.688	T	0.52909	-0.8512	10	0.66056	D	0.02	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	2299;1662;2298;2299	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	L	2298;2299;1662	ENSP00000251076:R2298L;ENSP00000441858:R2299L;ENSP00000400855:R1662L	ENSP00000251076:R2298L	R	-	2	0	DMXL2	49556146	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.270000	0.78493	2.502000	0.84385	0.655000	0.94253	CGT		0.353	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51768854	C	A	51768854	3	1	25	1	0	0	0	0	1	0	0	0	4595	536	19	5	2285	5	DMXL2	15	51768854	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	5817549	51768854	50762538	64	1914											
CHRNB4	1143	broad.mit.edu;mdanderson.org	37	chr15	78921471	78921471	+	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	gacttggaagctgcagaggcGgggttcacaaagtacatgga	12	7	15	7	1	1	1	1	0	0	1	1	4	1	3	0	5	3	4	0	5	3	3	rs142694602		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:78921471G>A	ENST00000261751.3	-	5	1287	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	392					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)	CTGCAGAGGCGGGGTTCACAA	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		16160	0		0	False		,,,				2504	0					.											0								G		3,4389	6.2+/-15.9	0,3,2193	50	52	51		1176	-7.4	0	15	dbSNP_134	51	0,8586		0,0,4293	no	coding-synonymous	CHRNB4	NM_000750.3		0,3,6486	AA,AG,GG		0.0,0.0683,0.0231		392/499	78921471	3,12975	2196	4293	6489	SO:0001819	synonymous_variant	1143			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.1176C>T	15.37:g.78921471G>A			A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																				0.627	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			A	78921471	G	A	78921471	2	1	25	1	0	0	0	0	0	0	0	1	3393	1103	39	1		1	CHRNB4	15	78921471	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	27152617	78921471	23609921	65	1915											
ZP2	7783	broad.mit.edu	37	chr16	21218242	21218242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctggacagaagaactgatAcatgacagctccgtgtctta	13	9	10	9	1	1	4	0	2	1	2	2	5	2	5	1	1	4	2	1	1	4	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr16:21218242A>G	ENST00000574002.1	-	6	882	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	ZP2_ENST00000219593.4_Missense_Mutation_p.Y134H|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.Y134H			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	134					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)		AAGAACTGATACATGACAGCT	0.488																																						.											0													237	199	212					16																	21218242		2199	4300	6499	SO:0001583	missense	7783			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.400T>C	16.37:g.21218242A>G	ENSP00000460971:p.Tyr134His		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	A	4.571	0.106025	0.08780	.	.	ENSG00000103310	ENST00000219593	T	0.29142	1.58	4.21	3.11	0.35812	.	0.000000	0.64402	D	0.000005	T	0.29588	0.0738	M	0.66378	2.025	0.09310	N	0.999997	B;B;B	0.31752	0.099;0.338;0.338	B;B;B	0.33890	0.041;0.172;0.172	T	0.22347	-1.0219	10	0.49607	T	0.09	-13.0883	6.2931	0.21071	0.8859:0.0:0.1141:0.0	.	134;134;134	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	H	134	ENSP00000219593:Y134H	ENSP00000219593:Y134H	Y	-	1	0	ZP2	21125743	0.023000	0.18921	0.019000	0.16419	0.099000	0.18886	0.610000	0.24253	0.773000	0.33404	0.482000	0.46254	TAT		0.488	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			G	21218242	A	G	21218242	3	3	25	1	0	0	0	0	1	0	0	0	18213	391	14	2	1897	2	ZP2	16	21218242	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10		21218242	69136511	66	1916											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	11833188	11833188	+	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	cttccttcccactagaacatTcacctggtggccaagtggct	8	11	8	14	0	1	1	1	0	0	1	3	1	3	1	4	3	1	1	4	3	3	4			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:11833188T>C	ENST00000262442.4	+	63	11951	c.11883T>C	c.(11881-11883)atT>atC	p.I3961I	DNAH9_ENST00000608377.1_Silent_p.I273I|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3961	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)		ACTAGAACATTCACCTGGTGG	0.557																																						.											0													47	40	42					17																	11833188		2203	4299	6502	SO:0001819	synonymous_variant	1770			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.11883T>C	17.37:g.11833188T>C			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11833188	T	C	11833188	2	2	25	1	0	0	0	0	0	0	0	1	4608	1771	62	4		4	DNAH9	17	11833188	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10		11833188	69362022	67	1917											
CDC27	996	mdanderson.org	37	chr17	45219669	45219669	+	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	ttttcccttctgaaatgatgGaagagtccaattttgtaatt	11	17	7	6	0	1	3	0	2	1	1	3	4	3	4	2	1	0	1	2	1	4	7	rs11491191		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:45219669G>A	ENST00000066544.3	-	11	1397	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	CDC27_ENST00000446365.2_Missense_Mutation_p.S374F|CDC27_ENST00000527547.1_Missense_Mutation_p.S435F|CDC27_ENST00000531206.1_Missense_Mutation_p.S441F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	435					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						TGAAATGATGGAAGAGTCCAA	0.333																																						.											0													25	24	25					17																	45219669		2202	4290	6492	SO:0001583	missense	996			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.1304C>T	17.37:g.45219669G>A	ENSP00000066544:p.Ser435Phe		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418475	0.62622	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.69435	-0.4;-0.39;-0.12;-0.4	5.45	5.45	0.79879	.	0.229124	0.46442	D	0.000286	T	0.71693	0.3370	L	0.38175	1.15	0.51233	D	0.999911	D;D;D;D	0.63880	0.993;0.988;0.989;0.991	P;P;P;P	0.58172	0.79;0.774;0.834;0.687	T	0.74241	-0.3729	10	0.66056	D	0.02	-29.963	16.7931	0.85594	0.0:0.0:1.0:0.0	rs11491191	374;435;441;435	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	F	435;441;374;435	ENSP00000066544:S435F;ENSP00000434614:S441F;ENSP00000392802:S374F;ENSP00000437339:S435F	ENSP00000066544:S435F	S	-	2	0	CDC27	42574668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.973000	0.63763	2.568000	0.86640	0.460000	0.39030	TCC		0.333	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45219669	G	A	45219669	3	1	25	1	0	0	0	0	1	0	0	0	3066	1174	41	3	1206	3	CDC27	17	45219669	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	33386481	45219669	35975541	68	1918											
TMEM49	81671	broad.mit.edu	37	chr17	57895131	57895131	+	Frame_Shift_Del	DEL	T	T	-																															ggagcaaatggtggctttcaTtgggtaagtaattcttcaag																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:57895131delT	ENST00000262291.4	+	10	1281	c.971delT	c.(970-972)attfs	p.I324fs	VMP1_ENST00000539763.1_Frame_Shift_Del_p.I132fs|VMP1_ENST00000536180.1_Frame_Shift_Del_p.I227fs|VMP1_ENST00000537567.1_Frame_Shift_Del_p.I190fs|VMP1_ENST00000545362.1_Frame_Shift_Del_p.I268fs	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	324					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						GTGGCTTTCATTGGGTAAGTA	0.274																																						.											0													40	41	41					17																	57895131		2201	4287	6488	SO:0001589	frameshift_variant	81671				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.971delT	17.37:g.57895131delT	ENSP00000262291:p.Ile324fs		B4DVV9|Q9H0P4|Q9P089	Frame_Shift_Del	DEL	ENST00000262291.4	37	CCDS11619.1																																																																																				0.274	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		-	57895131	T	-	57895131	7	5	25	1	0	1	0	1	0	0	0	0	16170	1493	52	0	1005	0	TMEM49	17	57895131	Frame_Shift_Del	DEL	T	TCGA-KM-8438-01A-11D-2310-10	12675462	57895131	23300079	69	1919	56	2									
TMEM49	81671	bcgsc.ca	37	chr17	57895132	57895132	+	Frame_Shift_Del	DEL	T	T	-																															gagcaaatggtggctttcatTgggtaagtaattcttcaagg																										TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:57895132delT	ENST00000262291.4	+	10	1282	c.972delT	c.(970-972)attfs	p.I324fs	VMP1_ENST00000539763.1_Frame_Shift_Del_p.I132fs|VMP1_ENST00000536180.1_Frame_Shift_Del_p.I227fs|VMP1_ENST00000537567.1_Frame_Shift_Del_p.I190fs|VMP1_ENST00000545362.1_Frame_Shift_Del_p.I268fs	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	324					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						TGGCTTTCATTGGGTAAGTAA	0.279																																						.											0													40	40	40					17																	57895132		2202	4286	6488	SO:0001589	frameshift_variant	81671				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.972delT	17.37:g.57895132delT	ENSP00000262291:p.Ile324fs		B4DVV9|Q9H0P4|Q9P089	Frame_Shift_Del	DEL	ENST00000262291.4	37	CCDS11619.1																																																																																				0.279	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		-	57895132	T	-	57895132	7	5	25	1	0	1	0	1	0	0	0	0	16170	1800	63	0	1006	0	TMEM49	17	57895132	Frame_Shift_Del	DEL	T	TCGA-KM-8438-01A-11D-2310-10	1	57895132	23300078	70	1920	56	2									
ABCA10	10349	ucsc.edu	37	chr17	67190540	67190540	+	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	tctcaccttctgtagaaacaGacaatccactaagaatgttt	14	12	5	10	0	2	3	1	0	2	3	4	3	3	3	2	0	1	2	2	0	5	4	rs113082690|rs200155538	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:67190540G>A	ENST00000269081.4	-	13	2240	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	ABCA10_ENST00000416101.2_Missense_Mutation_p.S444F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	444	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGTAGAAACAGACAATCCACT	0.328																																						.											0													116	111	113					17																	67190540		2192	4289	6481	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1331C>T	17.37:g.67190540G>A	ENSP00000269081:p.Ser444Phe		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497627	0.44455	.	.	ENSG00000154263	ENST00000269081;ENST00000416101	T;D	0.93247	1.12;-3.19	3.8	-0.228	0.13098	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.30118	U	0.010364	D	0.84915	0.5578	N	0.11845	0.185	0.24712	N	0.993191	B;B	0.30146	0.27;0.116	B;B	0.31245	0.126;0.118	T	0.66536	-0.5899	10	0.09338	T	0.73	.	18.3875	0.90471	0.0:0.741:0.259:0.0	.	444;444	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	F	444	ENSP00000269081:S444F;ENSP00000407772:S444F	ENSP00000269081:S444F	S	-	2	0	ABCA10	64702135	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	0.017000	0.13399	-0.209000	0.10156	0.557000	0.71058	TCT		0.328	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		A	67190540	G	A	67190540	3	1	25	1	0	0	0	0	1	0	0	0	29	942	33	4	3412	4	ABCA10	17	67190540	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	9295408	67190540	14004670	71	1921											
AATK	9625	broad.mit.edu	37	chr17	79102327	79102327	+	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	aggaggctgtgccggcccacGtctgtggacttgaggagctg	6	8	17	10	2	1	1	0	1	1	0	1	4	1	4	2	5	2	2	2	5	0	1	rs56384363	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:79102327G>A	ENST00000326724.4	-	4	381	c.357C>T	c.(355-357)gaC>gaT	p.D119D	MIR338_ENST00000390137.2_RNA|AATK_ENST00000417379.1_Silent_p.D16D|AATK_ENST00000572339.1_5'UTR	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	119					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)			GCCGGCCCACGTCTGTGGACT	0.677													G|||	11	0.00219649	0	0.0029	5008	,	,		16832	0		0.0089	False		,,,				2504	0					.											0								G	,	4,3428		0,4,1712	31	39	36		357,48	3.1	1	17	dbSNP_129	36	50,6930		0,50,3440	no	coding-synonymous,coding-synonymous	AATK	NM_001080395.2,NM_004920.2	,	0,54,5152	AA,AG,GG		0.7163,0.1166,0.5186	,	119/1375,16/1272	79102327	54,10358	1716	3490	5206	SO:0001819	synonymous_variant	9625			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.357C>T	17.37:g.79102327G>A			O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	37	CCDS45807.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	G	9.994	1.231624	0.22626	0.001166	0.007163	ENSG00000181409	ENST00000417379	.	.	.	4.09	3.1	0.35709	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42531	-0.9446	4	.	.	.	.	6.4447	0.21869	0.0983:0.0:0.724:0.1777	rs56384363	.	.	.	M	72	.	.	T	-	2	0	AATK	76716922	0.997000	0.39634	0.999000	0.59377	0.905000	0.53344	0.360000	0.20250	0.696000	0.31696	0.467000	0.42956	ACG		0.677	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		A	79102327	G	A	79102327	2	1	25	1	0	0	0	0	0	0	0	1	26	1136	40	1		1	AATK	17	79102327	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	11911787	79102327	2092883	72	1922											
NFATC1	4772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	77208855	77208855	+	Missense_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	ggcggacgaccgcctgctgcGcccgcacgccttctaccagg	5	5	13	18	6	1	0	0	0	1	0	1	2	1	1	5	3	3	2	5	3	1	2	rs139150912		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr18:77208855G>A	ENST00000427363.2	+	4	1460	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	NFATC1_ENST00000318065.5_Missense_Mutation_p.R474H|NFATC1_ENST00000586434.1_Missense_Mutation_p.R474H|NFATC1_ENST00000592223.1_Missense_Mutation_p.R474H|NFATC1_ENST00000397790.2_Missense_Mutation_p.R15H|NFATC1_ENST00000587635.1_Missense_Mutation_p.R487H|NFATC1_ENST00000542384.1_Missense_Mutation_p.R487H|NFATC1_ENST00000591814.1_Missense_Mutation_p.R487H|NFATC1_ENST00000329101.4_Missense_Mutation_p.R474H|NFATC1_ENST00000545796.1_Missense_Mutation_p.R15H|NFATC1_ENST00000253506.5_Missense_Mutation_p.R487H			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	487	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGCCTGCTGCGCCCGCACGCC	0.602																																					GBM(151;1210 2593 28719 45011)	.											0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81	72	75		1460,1421,44,1421,1460	4.3	1	18	dbSNP_134	75	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	487/826,474/931,15/354,474/813,487/717	77208855	1,13005	2203	4300	6503	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1460G>A	18.37:g.77208855G>A	ENSP00000389377:p.Arg487His		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	G	22.1	4.244410	0.79912	2.27E-4	0.0	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.31	4.31	0.51392	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.72479	2.2	0.48185	D	0.9996	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	0.79784	0.983;0.983;0.983;0.992;0.992;0.993;0.983	T	0.73458	-0.3976	10	0.87932	D	0	-25.1669	16.9798	0.86324	0.0:0.0:1.0:0.0	.	474;474;487;487;487;474;487	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	H	487;487;15;487;474;15;474;451	ENSP00000253506:R487H;ENSP00000380892:R15H;ENSP00000442435:R487H;ENSP00000327850:R474H;ENSP00000439992:R15H	ENSP00000253506:R487H	R	+	2	0	NFATC1	75309843	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.991000	0.63883	2.230000	0.72887	0.561000	0.74099	CGC		0.602	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		A	77208855	G	A	77208855	3	1	25	1	0	0	0	0	1	0	0	0	10361	1087	38	1	1566	1	NFATC1	18	77208855	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		77208855	868393	73	1923											
SLC39A3	29985	mdanderson.org	37	chr19	2732986	2732986	+	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	cccagggggatcatggcgctTacggtgaccgccagcttggc	6	7	15	13	3	1	1	1	1	0	0	1	2	1	2	3	5	2	2	3	5	1	2	rs759073	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:2732986T>C	ENST00000269740.4	-	3	1037	c.708A>G	c.(706-708)gtA>gtG	p.V236V	SLC39A3_ENST00000545664.1_Silent_p.V236V|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	236					transmembrane transport (GO:0055085)	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(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		TCATGGCGCTTACGGTGACCG	0.736													C|||	3132	0.625399	0.907	0.3905	5008	,	,		14002	0.6468		0.4414	False		,,,				2504	0.5787					.											0								C		3669,719		1542,585,67	19	22	21		708	2.4	1	19	dbSNP_86	21	3873,4701		921,2031,1335	no	coding-synonymous	SLC39A3	NM_144564.4		2463,2616,1402	CC,CT,TT		45.1714,16.3856,41.8145		236/315	2732986	7542,5420	2194	4287	6481	SO:0001819	synonymous_variant	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.708A>G	19.37:g.2732986T>C			B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	CCDS12093.1																																																																																				0.736	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			C	2732986	T	C	2732986	2	2	25	1	0	0	0	0	0	0	0	1	14619	1741	61	4		4	SLC39A3	19	2732986	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10		2732986	56395997	74	1924											
ZNRF4	148066	mdanderson.org	37	chr19	5455976	5455976	+	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	aaccgctctctgggcgccatCgtgctgatccgccgctacga	6	8	11	16	6	1	1	0	1	1	0	4	2	2	1	4	1	3	3	4	1	2	1	rs386806230|rs61740902	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:5455976C>T	ENST00000222033.4	+	1	551	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	158	PA.			AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		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)		TGGGCGCCATCGTGCTGATCC	0.682													C|||	596	0.11901	0.0477	0.1729	5008	,	,		15731	0.004		0.2296	False		,,,				2504	0.182					.											0								C		259,3999		8,243,1878	28	31	30		474	-9.3	0	19	dbSNP_129	30	1616,6844		228,1160,2842	no	coding-synonymous	ZNRF4	NM_181710.3		236,1403,4720	TT,TC,CC		19.1017,6.0827,14.7429		158/430	5455976	1875,10843	2129	4230	6359	SO:0001819	synonymous_variant	148066			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.474C>T	19.37:g.5455976C>T			A8K886|O75866	Silent	SNP	ENST00000222033.4	37	CCDS42475.1																																																																																				0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		T	5455976	C	T	5455976	2	4	25	1	0	0	0	0	0	0	0	1	18211	874	31	1		1	ZNRF4	19	5455976	Silent	SNP	C	TCGA-KM-8438-01A-11D-2310-10	2722990	5455976	53673007	75	1925											
MUC16	94025	mdanderson.org	37	chr19	8999443	8999443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggggcccagctcagtgaTgctgtgggtcagctggctca	6	9	16	10	0	3	1	3	1	0	0	3	1	3	1	1	4	3	5	1	4	1	1			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:8999443T>C	ENST00000397910.4	-	56	40935	c.40732A>G	c.(40732-40734)Atc>Gtc	p.I13578V	MUC16_ENST00000380951.5_Missense_Mutation_p.I219V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13580	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTCAGTGATGCTGTGGGTC	0.572																																						.											0													231	194	206					19																	8999443		2060	4204	6264	SO:0001583	missense	94025			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.40732A>G	19.37:g.8999443T>C	ENSP00000381008:p.Ile13578Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.060	-1.225501	0.01530	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.35236	1.32;1.32	2.95	-5.02	0.02982	SEA (2);	.	.	.	.	T	0.27900	0.0687	N	0.21508	0.67	.	.	.	B;B	0.28933	0.018;0.228	B;P	0.44561	0.008;0.453	T	0.52064	-0.8625	8	0.18276	T	0.48	.	8.2204	0.31539	0.0:0.3117:0.0:0.6883	.	21223;13578	Q8WXI7;B5ME49	MUC16_HUMAN;.	V	13578;219	ENSP00000381008:I13578V;ENSP00000370338:I219V	ENSP00000370338:I219V	I	-	1	0	MUC16	8860443	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-2.491000	0.00974	-0.945000	0.03681	0.454000	0.30748	ATC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8999443	T	C	8999443	3	2	25	1	0	0	0	0	1	0	0	0	9973	1464	51	4	2907	4	MUC16	19	8999443	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	3543467	8999443	50129540	76	1926											
RFX1	5989	mdanderson.org	37	chr19	14083761	14083761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagccccagtgctggTggagctggcgacgacctggc	5	5	16	15	2	0	0	0	0	0	0	0	3	0	1	5	5	3	2	5	5	0	0	rs2305780	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:14083761T>C	ENST00000254325.4	-	9	1342	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	370			T -> A (in dbSNP:rs2305780). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2253877}.		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)			CCAGTGCTGGTGGAGCTGGCG	0.741													T|||	2661	0.53135	0.7496	0.5	5008	,	,		10294	0.4454		0.4742	False		,,,				2504	0.4059					.											0								T	ALA/THR	3076,1206		1147,782,212	13	14	14		1108	-2.8	0.2	19	dbSNP_100	14	3917,4527		951,2015,1256	yes	missense	RFX1	NM_002918.4	58	2098,2797,1468	CC,CT,TT		46.388,28.1644,45.0495	benign	370/980	14083761	6993,5733	2141	4222	6363	SO:0001583	missense	5989				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.1108A>G	19.37:g.14083761T>C	ENSP00000254325:p.Thr370Ala			Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	1139	0.5215201465201466	351	0.7134146341463414	190	0.5248618784530387	248	0.43356643356643354	350	0.46174142480211083	T	9.229	1.035327	0.19590	0.718356	0.46388	ENSG00000132005	ENST00000254325	T	0.39997	1.05	4.02	-2.85	0.05734	RFX1 transcription activation region (1);	0.529736	0.19468	N	0.113536	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.16396	0.017	B	0.22152	0.038	T	0.41538	-0.9503	9	0.08837	T	0.75	-17.3917	0.6272	0.00788	0.2668:0.1627:0.1302:0.4403	rs2305780;rs17854587;rs60197642	370	P22670	RFX1_HUMAN	A	370	ENSP00000254325:T370A	ENSP00000254325:T370A	T	-	1	0	RFX1	13944761	0.996000	0.38824	0.227000	0.23927	0.383000	0.30230	0.368000	0.20399	-0.867000	0.04063	-0.441000	0.05720	ACC		0.741	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		C	14083761	T	C	14083761	3	2	25	1	0	0	0	0	1	0	0	0	13262	1696	59	2	1883	2	RFX1	19	14083761	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	5084318	14083761	45045222	77	1927											
NOTCH3	4854	mdanderson.org	37	chr19	15285052	15285052	+	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	ctggaacgcagtagctcctcTggcggcagcagcactgtgag	8	7	14	12	2	1	1	0	1	1	0	2	2	2	2	1	3	4	6	1	3	2	1	rs1044006	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:15285052T>C	ENST00000263388.2	-	25	4638	c.4563A>G	c.(4561-4563)ccA>ccG	p.P1521P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1521					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)			GTAGCTCCTCTGGCGGCAGCA	0.706													C|||	4366	0.871805	0.9879	0.7637	5008	,	,		14411	0.8006		0.8817	False		,,,				2504	0.8548					.											0								C		4249,97		2076,97,0	11	14	13		4563	-9.2	0.8	19	dbSNP_86	13	7663,853		3451,761,46	no	coding-synonymous	NOTCH3	NM_000435.2		5527,858,46	CC,CT,TT		10.0164,2.2319,7.3861		1521/2322	15285052	11912,950	2173	4258	6431	SO:0001819	synonymous_variant	4854			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.4563A>G	19.37:g.15285052T>C			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																				0.706	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		C	15285052	T	C	15285052	2	2	25	1	0	0	0	0	0	0	0	1	10550	1567	55	2		2	NOTCH3	19	15285052	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10	1201291	15285052	43843931	78	1928											
OR10H2	26538	mdanderson.org	37	chr19	15839311	15839311	+	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	ctgctcctgggctggtggctCggtcatggggatggtggtga	3	11	19	8	1	1	1	1	1	0	0	3	2	2	2	1	8	1	3	1	8	0	0	rs139469467		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592																																						.											0													91	75	81					19																	15839311		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.458C>T	19.37:g.15839311C>T	ENSP00000306095:p.Ser153Leu		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.360	-0.939686	0.02322	.	.	ENSG00000171942	ENST00000305899	T	0.00019	9.06	3.4	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	1.096810	0.07137	N	0.846687	T	0.00039	0.0001	N	0.02973	-0.45	0.09310	N	1	B	0.12630	0.006	B	0.19946	0.027	T	0.00510	-1.1697	10	0.10902	T	0.67	.	6.8361	0.23937	0.0:0.2906:0.0:0.7094	.	153	O60403	O10H2_HUMAN	L	153	ENSP00000306095:S153L	ENSP00000306095:S153L	S	+	2	0	OR10H2	15700311	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.238000	0.08977	-0.296000	0.08947	0.537000	0.68136	TCG		0.592	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839311	C	T	15839311	3	4	25	1	0	0	0	0	1	0	0	0	10906	893	31	1	460	1	OR10H2	19	15839311	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	554259	15839311	43289672	79	1929											
FCGBP	8857	mdanderson.org	37	chr19	40368733	40368733	+	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	gcgccatgatagctgctgggGagcgtcacgtctacccgcca	7	7	13	14	4	2	1	1	1	1	0	2	2	2	2	3	2	4	2	3	2	2	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:40368733G>C	ENST00000221347.6	-	28	12622	c.12615C>G	c.(12613-12615)ctC>ctG	p.L4205L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4205	VWFD 10. {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)			AGCTGCTGGGGAGCGTCACGT	0.597																																						.											0													292	295	294					19																	40368733		2203	4300	6503	SO:0001819	synonymous_variant	8857			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.12615C>G	19.37:g.40368733G>C			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40368733	G	C	40368733	2	2	25	1	0	0	0	0	0	0	0	1	5778	1161	41	5		5	FCGBP	19	40368733	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	24529422	40368733	18760250	80	1930											
LMTK3	114783	ucsc.edu	37	chr19	48994716	48994716	+	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	ggggtggcggggtggggaggTgtcgggggcgctggaggcgt	2	6	28	5	4	0	0	0	0	0	0	1	2	0	2	0	12	0	1	0	12	0	0			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:48994716T>G	ENST00000600059.1	-	13	4400	c.4173A>C	c.(4171-4173)acA>acC	p.T1391T	LMTK3_ENST00000270238.3_Silent_p.T1420T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1391	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)		GGTGGGGAGGTGTCGGGGGCG	0.711																																						.											0													3	4	3					19																	48994716		1503	3609	5112	SO:0001819	synonymous_variant	114783			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.4173A>C	19.37:g.48994716T>G			Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																					0.711	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		G	48994716	T	G	48994716	2	3	25	1	0	0	0	0	0	0	0	1	8860	1683	59	5		5	LMTK3	19	48994716	Silent	SNP	T	TCGA-KM-8438-01A-11D-2310-10	8625983	48994716	10134267	81	1931											
LILRB5	10990	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	54756385	54756385	+	Missense_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	ggtccttgggctctggccccGcagcccctgcaggacggtag	4	7	15	15	2	1	0	0	0	1	0	2	1	2	1	5	5	2	4	5	5	1	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:54756385G>A	ENST00000316219.5	-	10	1606	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	LILRB5_ENST00000449561.2_Missense_Mutation_p.A501V|LILRB5_ENST00000450632.1_Missense_Mutation_p.A492V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A401V|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	500					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTGGCCCCGCAGCCCCTGC	0.617																																						.											0													91	88	89					19																	54756385		2203	4300	6503	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1499C>T	19.37:g.54756385G>A	ENSP00000320390:p.Ala500Val		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.161755	0.01673	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00485	7.12;7.07;7.11;7.13	1.91	-0.491	0.12045	.	.	.	.	.	T	0.00241	0.0007	N	0.25890	0.77	0.09310	N	1	B;B;B;B	0.32862	0.349;0.172;0.055;0.387	B;B;B;B	0.24541	0.022;0.054;0.027;0.037	T	0.22695	-1.0209	9	0.14656	T	0.56	.	4.6532	0.12605	0.3582:0.0:0.6418:0.0	.	492;401;501;500	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	V	500;492;501;401	ENSP00000320390:A500V;ENSP00000414225:A492V;ENSP00000406478:A501V;ENSP00000263430:A401V	ENSP00000320390:A500V	A	-	2	0	LILRB5	59448197	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.285000	0.08410	-0.045000	0.13468	-0.459000	0.05422	GCG		0.617	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54756385	G	A	54756385	3	1	25	1	0	0	0	0	1	0	0	0	8794	1087	38	1	289	1	LILRB5	19	54756385	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	5761669	54756385	4372598	82	1932											
TGM6	343641	bcgsc.ca	37	chr20	2384095	2384095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcaggacctaggccccTcttacaatggctggcaggtt	7	8	12	14	1	1	0	0	0	1	0	1	1	1	1	4	6	1	4	4	6	3	3			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:2384095T>C	ENST00000202625.2	+	8	1103	c.1042T>C	c.(1042-1044)Tct>Cct	p.S348P	TGM6_ENST00000381423.1_Missense_Mutation_p.S348P	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	348					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTAGGCCCCTCTTACAATGG	0.567																																						.											0													56	53	54					20																	2384095		2203	4300	6503	SO:0001583	missense	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1042T>C	20.37:g.2384095T>C	ENSP00000202625:p.Ser348Pro		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610753	0.66558	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.87412	-2.25;-2.25	4.9	-0.758	0.11049	Transglutaminase-like (2);	0.663319	0.16355	N	0.218045	D	0.84871	0.5568	M	0.66939	2.045	0.25024	N	0.991311	P;P	0.48911	0.797;0.917	P;P	0.45712	0.491;0.48	T	0.77308	-0.2636	10	0.59425	D	0.04	-1.3682	8.462	0.32934	0.1442:0.0:0.5177:0.3382	.	348;348	O95932-2;O95932	.;TGM3L_HUMAN	P	348	ENSP00000202625:S348P;ENSP00000370831:S348P	ENSP00000202625:S348P	S	+	1	0	TGM6	2332095	0.000000	0.05858	0.931000	0.37212	0.970000	0.65996	0.078000	0.14761	-0.220000	0.09988	0.449000	0.29647	TCT		0.567	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		C	2384095	T	C	2384095	3	2	25	1	0	0	0	0	1	0	0	0	15831	1551	54	2	1072	2	TGM6	20	2384095	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		2384095	60641425	83	1933											
XKR7	343702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	30584474	30584474	+	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	gcccgcggcctggccttcgcGctcttcgccagcgtctacaa	4	8	11	18	6	2	0	0	0	2	0	4	0	2	0	4	2	2	1	4	2	2	3	rs375135448		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:30584474G>A	ENST00000562532.2	+	3	1128	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	318						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCCTTCGCGCTCTTCGCCA	0.632																																						.											0										1,4405	2.1+/-5.4	0,1,2202	72	70	70		954	-2.9	1	20		70	0,8600		0,0,4300	no	coding-synonymous	XKR7	NM_001011718.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		318/580	30584474	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.954G>A	20.37:g.30584474G>A			Q9NUG5	Silent	SNP	ENST00000562532.2	37	CCDS33459.1																																																																																				0.632	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		A	30584474	G	A	30584474	2	1	25	1	0	0	0	0	0	0	0	1	17433	1074	38	1		1	XKR7	20	30584474	Silent	SNP	G	TCGA-KM-8438-01A-11D-2310-10	28200379	30584474	32441046	84	1934											
NNAT	4826	broad.mit.edu	37	chr20	36149782	36149782	+	Missense_Mutation	SNP	T	T	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	aactgctcatcatcggctggTacatcttccgcgtgctgctg	6	12	10	13	3	3	0	2	0	1	0	5	0	4	0	1	2	5	5	1	2	2	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:36149782T>C	ENST00000062104.2	+	1	166	c.49T>C	c.(49-51)Tac>Cac	p.Y17H	BLCAP_ENST00000397134.1_5'Flank|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000397131.1_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.Y17H	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	17					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)				CATCGGCTGGTACATCTTCCG	0.617																																						.											0													140	140	140					20																	36149782		2203	4300	6503	SO:0001583	missense	4826				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.49T>C	20.37:g.36149782T>C	ENSP00000062104:p.Tyr17His		B2R558|E1P5V6|Q16596|Q5U0N3	Missense_Mutation	SNP	ENST00000062104.2	37	CCDS13296.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542446	0.65198	.	.	ENSG00000053438	ENST00000062104;ENST00000346199	.	.	.	4.35	4.35	0.52113	.	0.000000	0.41823	D	0.000817	T	0.66761	0.2822	.	.	.	0.31677	N	0.643627	D;P	0.62365	0.991;0.89	D;P	0.65323	0.934;0.607	T	0.73014	-0.4116	8	0.87932	D	0	-7.5239	10.2286	0.43241	0.0:0.0:0.0:1.0	.	17;17	Q16517-2;Q16517	.;NNAT_HUMAN	H	17	.	ENSP00000062104:Y17H	Y	+	1	0	NNAT	35583196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.088000	0.50175	2.197000	0.70478	0.533000	0.62120	TAC		0.617	NNAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079116.2	NM_005386		C	36149782	T	C	36149782	3	2	25	1	0	0	0	0	1	0	0	0	10508	1638	57	2	51	2	NNAT	20	36149782	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	5565308	36149782	26875738	85	1935											
RALGAPB	57148	broad.mit.edu	37	chr20	37126161	37126161	+	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	gccccaccaactgttcaaggTttgtttatttttttttttct	6	21	5	9	0	2	0	1	0	1	0	2	0	2	0	3	1	1	3	3	1	3	9			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:37126161T>C	ENST00000262879.6	+	4	837		c.e4+2		RALGAPB_ENST00000397042.3_Splice_Site|RALGAPB_ENST00000397038.1_Splice_Site|RALGAPB_ENST00000397040.1_Splice_Site|RALGAPB_ENST00000537204.1_Splice_Site			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						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						CTGTTCAAGGTTTGTTTATTT	0.393																																						.											0													101	99	99					20																	37126161		2203	4300	6503	SO:0001630	splice_region_variant	57148			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.553+2T>C	20.37:g.37126161T>C			A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Splice_Site	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843339	0.71488	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.319	0.74105	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALGAPB	36559575	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.472000	0.80996	2.004000	0.58718	0.528000	0.53228	.		0.393	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	Intron	C	37126161	T	C	37126161	5	2	25	1	0	0	0	0	0	0	1	0	13015	1739	60	2	565	2	RALGAPB	20	37126161	Splice_Site	SNP	T	TCGA-KM-8438-01A-11D-2310-10	976379	37126161	25899359	86	1936											
RBM11	54033	mdanderson.org	37	chr21	15599340	15599340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcatataaatggactcAccaacaaccaagtgactctg	15	8	6	12	0	3	1	2	1	1	0	3	2	3	2	2	1	3	1	2	1	6	2			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr21:15599340A>G	ENST00000400577.3	+	5	581	c.572A>G	c.(571-573)cAc>cGc	p.H191R	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	191					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AAATGGACTCACCAACAACCA	0.453																																						.											0													271	258	263					21																	15599340		1964	4154	6118	SO:0001583	missense	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.572A>G	21.37:g.15599340A>G	ENSP00000383421:p.His191Arg		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	A	1.477	-0.558202	0.03967	.	.	ENSG00000185272	ENST00000400577	T	0.07216	3.21	1.87	0.568	0.17333	.	1.040610	0.07512	N	0.908963	T	0.03305	0.0096	N	0.08118	0	0.20307	N	0.999915	B	0.16166	0.016	B	0.04013	0.001	T	0.46775	-0.9167	10	0.17832	T	0.49	.	0.217	0.00163	0.3713:0.2386:0.1563:0.2338	.	191	P57052	RBM11_HUMAN	R	191	ENSP00000383421:H191R	ENSP00000383421:H191R	H	+	2	0	RBM11	14521211	0.764000	0.28473	0.756000	0.31282	0.615000	0.37417	0.317000	0.19487	0.130000	0.18549	0.164000	0.16699	CAC		0.453	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		G	15599340	A	G	15599340	3	3	25	1	0	0	0	0	1	0	0	0	13112	159	6	2	590	2	RBM11	21	15599340	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10		15599340	32530555	87	1937											
KRTAP10-2	386679	mdanderson.org	37	chr21	45971109	45971109	+	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	agctagactgctggcagcacGagggcgtgcaggagctggtg	8	6	18	9	2	0	1	0	0	0	1	0	3	0	2	0	4	5	6	0	4	1	1	rs200984587	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr21:45971109G>A	ENST00000391621.1	-	1	279	c.233C>T	c.(232-234)tCg>tTg	p.S78L	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	78	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CTGGCAGCACGAGGGCGTGCA	0.687																																						.											0																																										SO:0001583	missense	386679			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.233C>T	21.37:g.45971109G>A	ENSP00000375479:p.Ser78Leu		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	5.987	0.366047	0.11352	.	.	ENSG00000205445	ENST00000391621	T	0.01572	4.76	3.44	1.48	0.22813	.	.	.	.	.	T	0.03305	0.0096	M	0.87682	2.9	0.09310	N	1	B	0.22683	0.073	B	0.16289	0.015	T	0.40384	-0.9566	9	0.51188	T	0.08	.	2.1189	0.03721	0.1176:0.1948:0.4883:0.1993	.	78	P60368	KR102_HUMAN	L	78	ENSP00000375479:S78L	ENSP00000375479:S78L	S	-	2	0	KRTAP10-2	44795537	0.060000	0.20803	0.001000	0.08648	0.073000	0.16967	1.997000	0.40786	0.133000	0.18654	0.456000	0.33151	TCG		0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			A	45971109	G	A	45971109	3	1	25	1	0	0	0	0	1	0	0	0	8509	1059	37	1	538	1	KRTAP10-2	21	45971109	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	30371769	45971109	2158786	88	1938											
SUSD2	56241	mdanderson.org	37	chr22	24579219	24579219	+	Missense_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	agatgtccagccccacagacGccagtgtgatctgcaggttg	9	8	12	12	1	1	3	0	1	1	2	2	3	2	3	4	1	2	2	4	1	0	1	rs399140		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr22:24579219G>A	ENST00000358321.3	+	2	532	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	91					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)	p.A91T(1)		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						CCCCACAGACGCCAGTGTGAT	0.627																																						.											1	Substitution - Missense(1)	skin(1)											38	38	38					22																	24579219		2202	4276	6478	SO:0001583	missense	56241			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.271G>A	22.37:g.24579219G>A	ENSP00000351075:p.Ala91Thr		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	2.736	-0.263316	0.05754	.	.	ENSG00000099994	ENST00000358321	T	0.05649	3.41	3.33	-1.69	0.08186	.	1.453820	0.04535	N	0.386942	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.25772	0.134	B	0.09377	0.004	T	0.43327	-0.9398	10	0.12766	T	0.61	.	7.7082	0.28663	0.5771:0.0:0.4229:0.0	rs399140;rs4398360	91	Q9UGT4	SUSD2_HUMAN	T	91	ENSP00000351075:A91T	ENSP00000351075:A91T	A	+	1	0	SUSD2	22909219	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.783000	0.04638	-0.189000	0.10482	-0.418000	0.06021	GCC		0.627	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		A	24579219	G	A	24579219	3	1	25	1	0	0	0	0	1	0	0	0	15405	1087	38	1	277	1	SUSD2	22	24579219	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10		24579219	26725347	89	1939											
PMM1	5372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	41973907	41973907	+	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	gtcccagccctcggggaagaCgtcaaagctgatcatgcctc	9	7	11	14	2	2	2	2	1	0	1	5	3	3	3	3	2	3	1	3	2	2	0			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr22:41973907C>T	ENST00000216259.7	-	7	655	c.571G>A	c.(571-573)Gtc>Atc	p.V191I		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	191					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TCGGGGAAGACGTCAAAGCTG	0.572																																						.											0													114	87	96					22																	41973907		2203	4300	6503	SO:0001583	missense	5372				CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"brain glucose-1,6-bisphosphatase"	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.571G>A	22.37:g.41973907C>T	ENSP00000216259:p.Val191Ile		A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732968	0.30684	.	.	ENSG00000100417	ENST00000216259	D	0.99023	-5.34	5.24	4.22	0.49857	HAD-like domain (2);	0.196740	0.46145	N	0.000313	D	0.97558	0.9200	M	0.70108	2.13	0.48632	D	0.999684	B	0.10296	0.003	B	0.10450	0.005	D	0.96235	0.9171	10	0.27785	T	0.31	-27.3831	10.0097	0.41979	0.0:0.8453:0.0:0.1547	.	191	Q92871	PMM1_HUMAN	I	191	ENSP00000216259:V191I	ENSP00000216259:V191I	V	-	1	0	PMM1	40303853	0.852000	0.29690	0.787000	0.31911	0.045000	0.14185	1.391000	0.34475	1.205000	0.43262	0.555000	0.69702	GTC		0.572	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		T	41973907	C	T	41973907	3	4	25	1	0	0	0	0	1	0	0	0	12136	536	19	1	225	1	PMM1	22	41973907	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	17394688	41973907	9330659	90	1940											
TLR7	51284	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	12904430	12904430	+	Missense_Mutation	SNP	T	T	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	tcgttgttataatgccccatTtccttgtgcgccgtgtaaaa	8	15	8	10	3	0	0	0	0	0	0	2	0	1	0	4	0	2	3	4	0	4	6			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:12904430T>C	ENST00000380659.3	+	3	942	c.803T>C	c.(802-804)tTt>tCt	p.F268S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	268					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)	AATGCCCCATTTCCTTGTGCG	0.368																																						.											0													109	102	104					X																	12904430		2203	4300	6503	SO:0001583	missense	51284			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.803T>C	X.37:g.12904430T>C	ENSP00000370034:p.Phe268Ser		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726644	0.30593	.	.	ENSG00000196664	ENST00000380659	T	0.36699	1.24	5.63	-2.51	0.06365	.	0.270338	0.35708	N	0.003022	T	0.55832	0.1945	M	0.80746	2.51	0.39016	D	0.959651	P	0.42735	0.788	P	0.58928	0.848	T	0.61667	-0.7016	10	0.72032	D	0.01	.	15.153	0.72717	0.7566:0.0:0.0:0.2434	.	268	Q9NYK1	TLR7_HUMAN	S	268	ENSP00000370034:F268S	ENSP00000370034:F268S	F	+	2	0	TLR7	12814351	1.000000	0.71417	0.176000	0.23000	0.039000	0.13416	0.763000	0.26517	-0.939000	0.03709	-1.676000	0.00740	TTT		0.368	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		C	12904430	T	C	12904430	3	2	25	1	0	0	0	0	1	0	0	0	15953	1841	64	4	809	4	TLR7	23	12904430	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10		12904430	142366130	91	1941											
PRICKLE3	4007	broad.mit.edu	37	chrX	49034679	49034679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgacgcccgcagtagAccttgccaacatggtagaag	11	7	12	11	2	0	3	0	1	0	2	0	3	0	3	3	2	2	3	3	2	4	3			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:49034679A>G	ENST00000376317.3	-	6	804	c.710T>C	c.(709-711)gTc>gCc	p.V237A	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.V156A|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.V169A|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.V224A	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	237	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CCCGCAGTAGACCTTGCCAAC	0.627																																						.											0													66	44	51					X																	49034679		2202	4298	6500	SO:0001583	missense	4007			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.710T>C	X.37:g.49034679A>G	ENSP00000365494:p.Val237Ala		B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569778	0.65765	.	.	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.14	5.14	0.70334	Zinc finger, LIM-type (4);	0.000000	0.34652	N	0.003797	D	0.88808	0.6537	L	0.42581	1.335	0.44652	D	0.997632	B;D;P;P	0.60160	0.417;0.987;0.594;0.803	B;P;B;P	0.60609	0.374;0.81;0.374;0.877	D	0.88252	0.2917	10	0.44086	T	0.13	-3.6123	11.8433	0.52368	1.0:0.0:0.0:0.0	.	237;199;156;237	B2RBS3;B7Z6S4;B7Z8F2;O43900	.;.;.;PRIC3_HUMAN	A	237;156;169;224	ENSP00000365494:V237A;ENSP00000441385:V156A;ENSP00000446051:V169A;ENSP00000441743:V224A	ENSP00000365494:V237A	V	-	2	0	PRICKLE3	48921623	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	9.154000	0.94694	1.699000	0.51192	0.416000	0.27883	GTC		0.627	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		G	49034679	A	G	49034679	3	3	25	1	0	0	0	0	1	0	0	0	12488	275	10	2	1153	2	PRICKLE3	23	49034679	Missense_Mutation	SNP	A	TCGA-KM-8438-01A-11D-2310-10	36130249	49034679	106235881	92	1942											
WNK3	65267	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	54276507	54276507	+	Missense_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	gagtctcacggtttcttatcGtctgattgatacagaatcgc	9	14	9	9	3	3	3	1	2	3	1	6	4	3	3	0	1	1	1	0	1	3	4			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:54276507G>A	ENST00000375159.2	-	15	2632	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	WNK3_ENST00000354646.2_Missense_Mutation_p.T878M|WNK3_ENST00000375169.3_Missense_Mutation_p.T878M			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	878					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						GTTTCTTATCGTCTGATTGAT	0.448																																						.											0													51	45	47					X																	54276507		2203	4300	6503	SO:0001583	missense	65267			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.2633C>T	X.37:g.54276507G>A	ENSP00000364301:p.Thr878Met		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462626	0.84425	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.28666	1.6;1.6;1.6	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000020	T	0.46776	0.1410	L	0.32530	0.975	0.43238	D	0.995146	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.46610	-0.9179	10	0.72032	D	0.01	-12.1503	17.1006	0.86648	0.0:0.0:1.0:0.0	.	878;878	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	M	878	ENSP00000364312:T878M;ENSP00000346667:T878M;ENSP00000364301:T878M	ENSP00000346667:T878M	T	-	2	0	WNK3	54293232	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	7.917000	0.87498	2.302000	0.77476	0.506000	0.49869	ACG		0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		A	54276507	G	A	54276507	3	1	25	1	0	0	0	0	1	0	0	0	17376	1145	40	1	2805	1	WNK3	23	54276507	Missense_Mutation	SNP	G	TCGA-KM-8438-01A-11D-2310-10	5241828	54276507	100994053	93	1943											
ARR3	407	broad.mit.edu	37	chrX	69498391	69498391	+	Missense_Mutation	SNP	T	T	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	attccagcttctcccagagcTttgcagtaaccccaatcctg	9	11	6	15	0	1	1	0	0	1	1	4	1	3	1	5	0	4	4	5	0	2	4			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:69498391T>C	ENST00000307959.8	+	12	856	c.805T>C	c.(805-807)Ttt>Ctt	p.F269L	ARR3_ENST00000374495.3_Missense_Mutation_p.F269L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	269					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						CTCCCAGAGCTTTGCAGTAAC	0.493																																						.											0													63	60	61					X																	69498391		2203	4300	6503	SO:0001583	missense	407				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.805T>C	X.37:g.69498391T>C	ENSP00000311538:p.Phe269Leu		B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.927921	0.34002	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.15718	2.4;2.4	3.92	3.92	0.45320	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.294134	0.37906	N	0.001899	T	0.12561	0.0305	N	0.25825	0.765	0.38402	D	0.945681	B;B	0.27823	0.19;0.023	B;B	0.32762	0.152;0.04	T	0.15178	-1.0446	10	0.17369	T	0.5	.	11.4823	0.50333	0.0:0.0:0.0:1.0	.	269;269	P36575;P36575-2	ARRC_HUMAN;.	L	269	ENSP00000363619:F269L;ENSP00000311538:F269L	ENSP00000311538:F269L	F	+	1	0	ARR3	69415116	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	7.229000	0.78088	1.354000	0.45846	0.417000	0.27973	TTT		0.493	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		C	69498391	T	C	69498391	3	2	25	1	0	0	0	0	1	0	0	0	979	1609	56	2	847	2	ARR3	23	69498391	Missense_Mutation	SNP	T	TCGA-KM-8438-01A-11D-2310-10	15221884	69498391	85772169	94	1944											
SERPINA7	6906	mdanderson.org;bcgsc.ca	37	chrX	105278361	105278361	+	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	atggaaaactttggaacaaaCaagtcaacccatctgtggga	16	8	9	8	0	2	0	1	0	1	0	2	3	2	3	1	3	4	0	1	3	6	1	rs1804495	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:105278361C>A	ENST00000327674.4	-	3	1244	c.909G>T	c.(907-909)ttG>ttT	p.L303F	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.L303F			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	303			L -> F (common polymorphism; dbSNP:rs1804495).		aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTGGAACAAACAAGTCAACCC	0.408													C|||	678	0.179603	0.084	0.0778	3775	,	,		15263	0.1964		0.0855	False		,,,				2504	0.2342					.											0			GRCh37	CD013484|CM920665	SERPINA7	D|M	rs1804495	C	PHE/LEU	472,3363		32,335,73,1265,498	91	75	80	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	909	2.5	0.8	X	dbSNP_89	80	751,5977		33,464,221,1931,1651	yes	missense	SERPINA7	NM_000354.5	22	65,799,294,3196,2149	AA,AC,A,CC,C		11.1623,12.3077,11.5782	probably-damaging	303/416	105278361	1223,9340	2203	4300	6503	SO:0001583	missense	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.909G>T	X.37:g.105278361C>A	ENSP00000329374:p.Leu303Phe		D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	CCDS14518.1	228	0.13743218806509946	32	0.06779661016949153	27	0.07894736842105263	62	0.11877394636015326	43	0.059722222222222225	C	14.90	2.672593	0.47781	0.123077	0.111623	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.91068	-2.78;-2.78	4.83	2.51	0.30379	Serpin domain (3);	0.628220	0.12570	N	0.457388	T	0.19565	0.0470	M	0.86028	2.79	0.58432	P	5.999999999950489E-6	D	0.58620	0.983	P	0.53809	0.735	T	0.68918	-0.5282	9	0.72032	D	0.01	.	1.9978	0.03460	0.2538:0.3548:0.0:0.3915	rs1804495;rs2071772;rs17347153;rs52796729;rs59668572;rs1804495	303	P05543	THBG_HUMAN	F	303	ENSP00000329374:L303F;ENSP00000361644:L303F	ENSP00000329374:L303F	L	-	3	2	SERPINA7	105165017	0.000000	0.05858	0.766000	0.31476	0.852000	0.48524	-0.651000	0.05372	0.352000	0.24053	0.594000	0.82650	TTG		0.408	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		A	105278361	C	A	105278361	3	1	25	1	0	0	0	0	1	0	0	0	14094	477	17	5	346	5	SERPINA7	23	105278361	Missense_Mutation	SNP	C	TCGA-KM-8438-01A-11D-2310-10	35779970	105278361	49992199	95	1945											
COL16A1	1307	broad.mit.edu;hgsc.bcm.edu	37	chr1	32149324	32149324	+	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	tcacctggggtccctggactCcccttcctggaggccctggc	3	9	12	17	0	1	0	1	0	0	0	4	2	4	2	6	6	0	0	6	6	0	1			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:32149324C>T	ENST00000373672.3	-	34	2879	c.2363G>A	c.(2362-2364)gGa>gAa	p.G788E	COL16A1_ENST00000271069.6_Missense_Mutation_p.G787E|COL16A1_ENST00000373668.3_Missense_Mutation_p.G788E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	788	Collagen-like 4.|Triple-helical region 5 (COL5) 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)		TCCCTGGACTCCCCTTCCTGG	0.607																																					Colon(143;498 1786 21362 25193 36625)	.											0													74	93	87					1																	32149324		1980	4153	6133	SO:0001583	missense	1307			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.2363G>A	1.37:g.32149324C>T	ENSP00000362776:p.Gly788Glu		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360954	0.41801	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	D;D;D;D	0.99353	-5.77;-5.77;-5.52;-5.77	5.17	2.28	0.28536	.	0.126713	0.51477	D	0.000088	D	0.99042	0.9672	H	0.98333	4.205	0.23978	N	0.996285	B;B;B	0.15473	0.013;0.003;0.002	B;B;B	0.23419	0.046;0.013;0.008	D	0.99838	1.1059	10	0.72032	D	0.01	.	7.1895	0.25818	0.0:0.7033:0.1397:0.157	.	788;788;788	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	E	788;787;9;788	ENSP00000362776:G788E;ENSP00000271069:G787E;ENSP00000411457:G9E;ENSP00000362772:G788E	ENSP00000271069:G787E	G	-	2	0	COL16A1	31921911	0.001000	0.12720	0.028000	0.17463	0.897000	0.52465	0.032000	0.13732	0.414000	0.25790	-0.191000	0.12829	GGA		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32149324	C	T	32149324	3	4	26	1	0	0	0	0	1	0	0	0	3673	855	30	3	2603	3	COL16A1	1	32149324	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10		32149324	217101297	1	1946											
RSBN1	54665	mdanderson.org	37	chr1	114354654	114354654	+	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	acagttggggctgcattcgtTggcggcagcggcccaggatg	6	8	17	10	3	0	0	0	0	0	0	1	1	0	1	1	6	2	5	1	6	0	3	rs3195954	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	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	127	Pro-rich.					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)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971					.											0								T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665			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.381A>G	1.37:g.114354654T>C			A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																				0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	26	1	0	0	0	0	0	0	0	1	13696	1799	63	4		4	RSBN1	1	114354654	Silent	SNP	T	TCGA-KM-8439-01A-11D-2310-10	82205330	114354654	134895967	2	1947											
NBPF10	100132406	broad.mit.edu	37	chr1	145299779	145299779	+	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	gtcagcatggtggtatcagcCggccctttgtccagcgagaa	8	9	13	11	2	2	1	2	0	0	1	3	2	3	1	3	3	3	2	3	3	2	2			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:145299779C>T	ENST00000369338.1	+	2	205	c.15C>T	c.(13-15)gcC>gcT	p.A5A	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.A276A			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	276						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)		TGGTATCAGCCGGCCCTTTGT	0.498																																						.											0													3	2	2					1																	145299779		615	1282	1897	SO:0001819	synonymous_variant	100132406			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	ENST00000369338.1:c.15C>T	1.37:g.145299779C>T			Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369338.1	37																																																																																					0.498	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		T	145299779	C	T	145299779	2	4	26	1	0	0	0	0	0	0	0	1	10193	639	23	1		1	NBPF10	1	145299779	Silent	SNP	C	TCGA-KM-8439-01A-11D-2310-10	30945125	145299779	103950842	3	1948											
FLG	2312	mdanderson.org	37	chr1	152284576	152284576	+	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	acccctctgattgtccctggCctgcctgtgagtgtctagag	5	12	11	13	0	2	3	0	2	2	1	3	3	3	3	5	1	1	0	5	1	1	2	rs143382793	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:152284576C>A	ENST00000368799.1	-	3	2821	c.2786G>T	c.(2785-2787)gGc>gTc	p.G929V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	929	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)			TTGTCCCTGGCCTGCCTGTGA	0.557									Ichthyosis																													.											0													327	313	318					1																	152284576		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.2786G>T	1.37:g.152284576C>A	ENSP00000357789:p.Gly929Val		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	1.719	-0.497190	0.04291	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.06528	3.29	1.17	0.0422	0.14216	.	.	.	.	.	T	0.06142	0.0159	M	0.77820	2.39	0.09310	N	1	D	0.67145	0.996	P	0.58970	0.849	T	0.24977	-1.0145	9	0.21014	T	0.42	.	4.8967	0.13753	0.0:0.6064:0.3936:0.0	.	929	P20930	FILA_HUMAN	V	929;136	ENSP00000357789:G929V	ENSP00000357789:G929V	G	-	2	0	FLG	150551200	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.167000	0.09940	0.033000	0.15463	0.479000	0.44913	GGC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152284576	C	A	152284576	3	1	26	1	0	0	0	0	1	0	0	0	5922	739	26	5	9403	5	FLG	1	152284576	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	6984797	152284576	96966045	4	1949											
KISS1	3814	mdanderson.org	37	chr1	204159787	204159787	+	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	cggacaggcccggctgctggGggctcccggagctctcgggg	3	5	19	14	4	1	0	0	0	1	0	3	2	2	2	2	8	2	4	2	8	0	0	rs4889	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:204159787G>C	ENST00000367194.4	-	3	390	c.242C>G	c.(241-243)cCc>cGc	p.P81R		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	81			P -> R (in dbSNP:rs4889). {ECO:0000269|PubMed:15598687, ECO:0000269|PubMed:9806840, ECO:0000269|Ref.4}.		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)		CGGCTGCTGGGGGCTCCCGGA	0.731													G|||	1652	0.329872	0.4009	0.3156	5008	,	,		8959	0.4216		0.2545	False		,,,				2504	0.227					.											0								G	ARG/PRO	673,1913		94,485,714	3	5	4		242	0.6	0	1	dbSNP_52	4	1170,5064		125,920,2072	no	missense	KISS1	NM_002256.3	103	219,1405,2786	CC,CG,GG		18.768,26.0247,20.8957	probably-damaging	81/139	204159787	1843,6977	1293	3117	4410	SO:0001583	missense	3814			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.242C>G	1.37:g.204159787G>C	ENSP00000356162:p.Pro81Arg		A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	37	CCDS41454.1	717	0.3282967032967033	196	0.3983739837398374	99	0.27348066298342544	230	0.4020979020979021	192	0.2532981530343008	G	11.85	1.760696	0.31137	0.260247	0.18768	ENSG00000170498	ENST00000367194	T	0.80653	-1.4	4.91	0.555	0.17247	.	0.163973	0.29799	N	0.011175	T	0.00012	0.0000	N	0.12961	0.28	0.80722	P	0.0	P	0.35844	0.524	B	0.35550	0.205	T	0.32322	-0.9911	9	0.02654	T	1	-5.226	2.4672	0.04555	0.0963:0.1644:0.4016:0.3376	rs4889;rs1132315;rs3192998	81	Q15726	KISS1_HUMAN	R	81	ENSP00000356162:P81R	ENSP00000356162:P81R	P	-	2	0	KISS1	202426410	0.450000	0.25697	0.017000	0.16124	0.061000	0.15899	1.748000	0.38308	0.119000	0.18210	0.655000	0.94253	CCC		0.731	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		C	204159787	G	C	204159787	3	2	26	1	0	0	0	0	1	0	0	0	8327	1232	43	5	178	5	KISS1	1	204159787	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	51875211	204159787	45090834	5	1950											
FMN2	56776	mdanderson.org	37	chr1	240370995	240370995	+	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	cctccgccccctcttcccggGgcaggcataccccttcctcc	3	8	7	23	2	1	0	0	0	1	0	5	0	5	0	9	3	1	2	9	3	1	3	rs201866430	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:240370995G>A	ENST00000319653.9	+	5	3113	c.2883G>A	c.(2881-2883)ggG>ggA	p.G961G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	961	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)			CTCTTCCCGGGGCAGGCATAC	0.692																																						.											0													20	23	22					1																	240370995		2199	4297	6496	SO:0001819	synonymous_variant	56776			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.2883G>A	1.37:g.240370995G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240370995	G	A	240370995	2	1	26	1	0	0	0	0	0	0	0	1	5950	1219	43	3		3	FMN2	1	240370995	Silent	SNP	G	TCGA-KM-8439-01A-11D-2310-10	36211208	240370995	8879626	6	1951											
FMN2	56776	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	240371393	240371393	+	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	acctccccctctacccggagCgggcataccccctccgcccc	5	5	7	24	3	1	0	0	0	1	0	3	1	3	1	9	2	3	1	9	2	2	2	rs201701711		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr1:240371393C>T	ENST00000319653.9	+	5	3511	c.3281C>T	c.(3280-3282)gCg>gTg	p.A1094V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1094	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)			CTACCCGGAGCGGGCATACCC	0.731																																						.											0								C	VAL/ALA	2,3774		0,2,1886	5	7	6		3281	-1	0	1		6	15,7769		0,15,3877	no	missense	FMN2	NM_020066.4	64	0,17,5763	TT,TC,CC		0.1927,0.053,0.1471	benign	1094/1723	240371393	17,11543	1888	3892	5780	SO:0001583	missense	56776			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.3281C>T	1.37:g.240371393C>T	ENSP00000318884:p.Ala1094Val		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	8.534	0.871605	0.17322	5.3E-4	0.001927	ENSG00000155816	ENST00000319653	T	0.58940	0.3	3.16	-1.05	0.10036	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	2.671950	0.01759	N	0.030419	T	0.45196	0.1330	L	0.41573	1.285	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06144	-1.0843	9	.	.	.	.	3.0177	0.06065	0.364:0.3658:0.0:0.2702	.	1094	Q9NZ56	FMN2_HUMAN	V	1094	ENSP00000318884:A1094V	.	A	+	2	0	FMN2	238438016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.328000	0.01112	-0.352000	0.08237	-0.350000	0.07774	GCG		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371393	C	T	240371393	3	4	26	1	0	0	0	0	1	0	0	0	5950	768	27	1	3299	1	FMN2	1	240371393	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	398	240371393	8879228	7	1952											
EPT1	85465	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	26608003	26608003	+	Missense_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	tggaacagcttttgccaacaGtacagtaagatttttttctt	11	16	7	7	0	1	1	0	0	1	1	1	2	1	2	1	1	5	3	1	1	4	8			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:26608003G>A	ENST00000260585.7	+	8	1027	c.908G>A	c.(907-909)aGt>aAt	p.S303N		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	303					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)										TTTGCCAACAGTACAGTAAGA	0.284																																						.											0													60	51	54					2																	26608003		1802	4063	5865	SO:0001583	missense	85465				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.908G>A	2.37:g.26608003G>A	ENSP00000260585:p.Ser303Asn		Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068278	0.36470	.	.	ENSG00000138018	ENST00000260585;ENST00000447170	T	0.45668	0.89	5.97	-8.32	0.00996	.	0.347133	0.32901	N	0.005501	T	0.27134	0.0665	L	0.33339	1.005	0.21445	N	0.999682	B	0.13594	0.008	B	0.09377	0.004	T	0.02498	-1.1150	10	0.72032	D	0.01	-11.6859	16.1861	0.81955	0.092:0.0:0.6776:0.2304	.	303	Q9C0D9	EPT1_HUMAN	N	303;179	ENSP00000260585:S303N	ENSP00000260585:S303N	S	+	2	0	EPT1	26461507	1.000000	0.71417	0.052000	0.19188	0.946000	0.59487	1.312000	0.33574	-1.757000	0.01316	-0.275000	0.10095	AGT		0.284	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		A	26608003	G	A	26608003	3	1	26	1	0	0	0	0	1	0	0	0	5199	1029	36	4	938	4	EPT1	2	26608003	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		26608003	216591370	8	1953											
DUSP11	8446	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	74007178	74007178	+	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	cgccctcaatgccaggataaGaccctaaacaggaaaagact	16	5	8	12	1	1	2	1	0	0	2	1	4	1	4	3	2	2	0	3	2	6	2	rs574278061	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:74007178G>A	ENST00000272444.3	-	1	106	c.65C>T	c.(64-66)tCt>tTt	p.S22F	DUSP11_ENST00000377706.4_5'UTR|DUSP11_ENST00000443070.1_Missense_Mutation_p.S22F|DUSP11_ENST00000480948.1_5'Flank	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	0					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GCCAGGATAAGACCCTAAACA	0.637											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0015	0	5008	,	,		17848	0		0	False		,,,				2504	0					.											0													30	40	37					2																	74007178		692	1591	2283	SO:0001583	missense	8446			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.65C>T	2.37:g.74007178G>A	ENSP00000272444:p.Ser22Phe	1149	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638396	0.47153	.	.	ENSG00000144048	ENST00000272444;ENST00000443070	T	0.36699	1.24	3.97	0.177	0.15054	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.20196	N	0.999924	B	0.10296	0.003	B	0.06405	0.002	T	0.32745	-0.9895	9	0.12103	T	0.63	.	6.2359	0.20762	0.4426:0.0:0.5574:0.0	.	22	C9JYA6	.	F	22	ENSP00000413444:S22F	ENSP00000272444:S22F	S	-	2	0	DUSP11	73860686	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.512000	0.22755	0.011000	0.14865	-0.258000	0.10820	TCT		0.637	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			A	74007178	G	A	74007178	3	1	26	1	0	0	0	0	1	0	0	0	4811	942	33	4	1104	4	DUSP11	2	74007178	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	47399175	74007178	169192195	9	1954											
KCMF1	56888	broad.mit.edu;hgsc.bcm.edu	37	chr2	85262268	85262268	+	Frame_Shift_Del	DEL	C	C	-																															ttctgaacatgcagaaacatCaacagaagtggtaagtgaag																										TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:85262268delC	ENST00000409785.4	+	3	673	c.314delC	c.(313-315)tcafs	p.S105fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	105							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GCAGAAACATCAACAGAAGTG	0.373																																						.											0													81	70	73					2																	85262268		1876	4123	5999	SO:0001589	frameshift_variant	56888			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.314delC	2.37:g.85262268delC	ENSP00000386738:p.Ser105fs		Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Frame_Shift_Del	DEL	ENST00000409785.4	37	CCDS46350.1																																																																																				0.373	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		-	85262268	C	-	85262268	7	5	26	1	0	1	0	1	0	0	0	0	8000	838	29	0	324	0	KCMF1	2	85262268	Frame_Shift_Del	DEL	C	TCGA-KM-8439-01A-11D-2310-10	11255090	85262268	157937105	10	1955	57	2									
KCMF1	56888	bcgsc.ca	37	chr2	85262269	85262269	+	Frame_Shift_Del	DEL	C	C	-																															tctgaacatgcagaaacatcAacagaagtggtaagtgaagc																										TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:85262269delC	ENST00000409785.4	+	3	674	c.315delC	c.(313-315)tccfs	p.S105fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	105							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CAGAAACATCAACAGAAGTGG	0.373																																						.											0													79	68	71					2																	85262269		1875	4123	5998	SO:0001589	frameshift_variant	56888			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.315delC	2.37:g.85262269delC	ENSP00000386738:p.Ser105fs		Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Frame_Shift_Del	DEL	ENST00000409785.4	37	CCDS46350.1																																																																																				0.373	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		-	85262269	C	-	85262269	7	5	26	1	0	1	0	1	0	0	0	0	8000	117	5	0	325	0	KCMF1	2	85262269	Frame_Shift_Del	DEL	C	TCGA-KM-8439-01A-11D-2310-10	1	85262269	157937104	11	1956	57	2									
POTEE	445582	mdanderson.org	37	chr2	132021475	132021475	+	Missense_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	cctgaaccccaaggccaaccGcgagaagatgacccagatca	14	3	9	15	2	1	5	1	2	0	3	1	6	1	5	6	1	2	0	6	1	4	0	rs11546936		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr2:132021475G>A	ENST00000356920.5	+	15	2541	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H	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	816	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAGGCCAACCGCGAGAAGATG	0.607																																						.											0													78	80	79					2																	132021475		2127	4190	6317	SO:0001583	missense	445582			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.2447G>A	2.37:g.132021475G>A	ENSP00000439189:p.Arg816His		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	18.42	3.621132	0.66787	.	.	ENSG00000188219	ENST00000356920	D	0.97066	-4.23	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98817	0.9601	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.96667	0.9493	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	rs11546936	816	Q6S8J3	POTEE_HUMAN	H	816	ENSP00000439189:R816H	ENSP00000439189:R816H	R	+	2	0	AC131180.1	131737945	1.000000	0.71417	0.216000	0.23742	0.219000	0.24729	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGC		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021475	G	A	132021475	3	1	26	1	0	0	0	0	1	0	0	0	12264	1087	38	1	2505	1	POTEE	2	132021475	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	46759206	132021475	111177898	12	1957											
LRBA	987	broad.mit.edu	37	chr4	151842427	151842427	+	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	atgctttaacacagacagcaActtcccagcatgtggaggct	12	9	9	11	0	0	1	0	0	0	1	1	2	1	2	1	2	5	4	1	2	2	3			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr4:151842427A>G	ENST00000357115.3	-	5	811	c.568T>C	c.(568-570)Ttg>Ctg	p.L190L	LRBA_ENST00000535741.1_Silent_p.L190L|LRBA_ENST00000507224.1_Silent_p.L190L|LRBA_ENST00000510413.1_Silent_p.L190L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	190						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)					ACAGACAGCAACTTCCCAGCA	0.338																																						.											0													130	126	127					4																	151842427		2203	4300	6503	SO:0001819	synonymous_variant	987			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.568T>C	4.37:g.151842427A>G			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	CCDS3773.1																																																																																				0.338	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			G	151842427	A	G	151842427	2	3	26	1	0	0	0	0	0	0	0	1	8931	40	2	2		2	LRBA	4	151842427	Silent	SNP	A	TCGA-KM-8439-01A-11D-2310-10		151842427	39311849	13	1958											
DND1	373863	mdanderson.org	37	chr5	140052407	140052407	+	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	ggcccacgcgctggaacagcGggataagctggtgctcgtac	8	6	15	12	4	0	0	0	0	0	0	1	2	0	2	1	4	5	4	1	4	3	2	rs72800920		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr5:140052407G>A	ENST00000542735.1	-	3	270	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	76	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)	p.P76L(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACAGCGGGATAAGCTG	0.667																																						.											1	Substitution - Missense(1)	prostate(1)											13	20	17					5																	140052407		2184	4291	6475	SO:0001583	missense	373863			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.227C>T	5.37:g.140052407G>A	ENSP00000445366:p.Pro76Leu			Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250143	0.80024	.	.	ENSG00000256453	ENST00000542735	T	0.15718	2.4	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000003	T	0.51058	0.1652	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60403	-0.7270	10	0.87932	D	0	-9.8139	18.6578	0.91460	0.0:0.0:1.0:0.0	.	76	Q8IYX4	DND1_HUMAN	L	76	ENSP00000445366:P76L	ENSP00000445366:P76L	P	-	2	0	DND1	140032591	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.637000	0.98443	2.499000	0.84300	0.467000	0.42956	CCG		0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		A	140052407	G	A	140052407	3	1	26	1	0	0	0	0	1	0	0	0	4666	1116	39	1	842	1	DND1	5	140052407	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		140052407	40862853	14	1959											
PCDHA5	56143	hgsc.bcm.edu	37	chr5	140201458	140201458	+	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	gagcggccagctccactactCgatcccggaggaagccaaac	11	4	11	15	3	0	0	0	0	0	0	3	4	2	2	4	3	5	1	4	3	3	1	rs144627570		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr5:140201458C>T	ENST00000529859.1	+	1	98	c.98C>T	c.(97-99)tCg>tTg	p.S33L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S33L|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S33L|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	33	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCACTACTCGATCCCGGAG	0.647																																						.											0								C	,,,,LEU/SER,,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	53	60	58		,,,,98,,98	3.9	1	5	dbSNP_134	58	0,8600		0,0,4300	no	intron,intron,intron,intron,missense,intron,missense	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,145,,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	,,,,33/937,,33/817	140201458	1,13005	2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.98C>T	5.37:g.140201458C>T	ENSP00000436557:p.Ser33Leu		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669759	0.47677	2.27E-4	0.0	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.36340	1.26;1.26;1.26	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.48150	0.1484	H	0.96111	3.77	0.25383	N	0.988592	B;P;B	0.36599	0.287;0.56;0.374	B;B;B	0.27608	0.081;0.06;0.07	T	0.57562	-0.7790	9	0.66056	D	0.02	.	9.9783	0.41797	0.0:0.9042:0.0:0.0958	.	33;33;33	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	L	33	ENSP00000433416:S33L;ENSP00000436557:S33L;ENSP00000367366:S33L	ENSP00000367366:S33L	S	+	2	0	PCDHA5	140181642	0.998000	0.40836	0.995000	0.50966	0.957000	0.61999	4.077000	0.57598	1.858000	0.53909	0.585000	0.79938	TCG		0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140201458	C	T	140201458	3	4	26	1	0	0	0	0	1	0	0	0	11527	893	31	1	100	1	PCDHA5	5	140201458	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	149051	140201458	40713802	15	1960											
FAM8A1	51439	mdanderson.org	37	chr6	17602863	17602863	+	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	cttggcccacagatttatggCagagatggtggatttcttta	9	14	11	7	0	1	2	0	0	1	2	1	4	1	3	1	4	0	1	1	4	2	6	rs80120441	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:17602863C>T	ENST00000259963.3	+	2	810	c.755C>T	c.(754-756)gCa>gTa	p.A252V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	252	RDD.					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)			AGATTTATGGCAGAGATGGTG	0.348																																						.											0													137	138	138					6																	17602863		2203	4299	6502	SO:0001583	missense	51439			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.755C>T	6.37:g.17602863C>T	ENSP00000259963:p.Ala252Val		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151658	0.94645	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.1	5.1	0.69264	RDD (1);	0.058285	0.64402	D	0.000002	T	0.81341	0.4802	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84502	0.0617	9	0.87932	D	0	-6.6518	18.5673	0.91121	0.0:1.0:0.0:0.0	.	252	Q9UBU6	FA8A1_HUMAN	V	2;252	.	ENSP00000259963:A252V	A	+	2	0	FAM8A1	17710842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.356000	0.79943	0.644000	0.83932	GCA		0.348	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			T	17602863	C	T	17602863	3	4	26	1	0	0	0	0	1	0	0	0	5649	710	25	4	761	4	FAM8A1	6	17602863	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10		17602863	153512204	16	1961			1	19		3	3	48	N	G_C_A	2.284128e-09
FAM8A1	51439	mdanderson.org	37	chr6	17602895	17602895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttctttattctcttctttAtaaaagcaaccattgtctta	11	20	2	8	0	4	0	0	0	4	0	5	0	4	0	1	0	2	1	1	0	6	10	rs79412549	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:17602895A>G	ENST00000259963.3	+	2	842	c.787A>G	c.(787-789)Ata>Gta	p.I263V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	263	RDD.					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)			TCTCTTCTTTATAAAAGCAAC	0.333																																						.											0													126	129	128					6																	17602895		2203	4299	6502	SO:0001583	missense	51439			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.787A>G	6.37:g.17602895A>G	ENSP00000259963:p.Ile263Val		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607815	0.28623	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.14	3.99	0.46301	RDD (1);	0.111766	0.64402	D	0.000020	T	0.15435	0.0372	N	0.11560	0.145	0.50467	D	0.999878	B	0.26577	0.153	B	0.20577	0.03	T	0.06752	-1.0809	9	0.27082	T	0.32	-7.5971	10.2614	0.43430	0.9218:0.0:0.0782:0.0	.	263	Q9UBU6	FA8A1_HUMAN	V	13;263	.	ENSP00000259963:I263V	I	+	1	0	FAM8A1	17710874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.699000	0.54778	1.912000	0.55364	0.528000	0.53228	ATA		0.333	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			G	17602895	A	G	17602895	3	3	26	1	0	0	0	0	1	0	0	0	5649	449	16	4	793	4	FAM8A1	6	17602895	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10	32	17602895	153512172	17	1962			1	19		3	3	48	N	G_C_A	2.284128e-09
FAM8A1	51439	mdanderson.org	37	chr6	17602910	17602910	+	Missense_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	tctttataaaagcaaccattGtcttaagcattatgcacctc	13	14	4	10	0	2	0	0	0	2	0	3	0	2	0	2	0	4	3	2	0	6	6	rs144013791	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:17602910G>A	ENST00000259963.3	+	2	857	c.802G>A	c.(802-804)Gtc>Atc	p.V268I		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	268	RDD.					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)			AGCAACCATTGTCTTAAGCAT	0.343																																						.											0													129	131	130					6																	17602910		2203	4299	6502	SO:0001583	missense	51439			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.802G>A	6.37:g.17602910G>A	ENSP00000259963:p.Val268Ile		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129586	0.56721	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.14	5.14	0.70334	RDD (1);	0.294262	0.32068	N	0.006636	T	0.14657	0.0354	N	0.12746	0.255	0.38313	D	0.943307	P	0.44776	0.843	B	0.40659	0.336	T	0.03619	-1.1019	9	0.17832	T	0.49	-14.4303	10.2941	0.43613	0.1541:0.0:0.8459:0.0	.	268	Q9UBU6	FA8A1_HUMAN	I	18;268	.	ENSP00000259963:V268I	V	+	1	0	FAM8A1	17710889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.361000	0.52306	2.361000	0.80049	0.650000	0.86243	GTC		0.343	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			A	17602910	G	A	17602910	3	1	26	1	0	0	0	0	1	0	0	0	5649	1377	48	4	808	4	FAM8A1	6	17602910	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	15	17602910	153512157	18	1963			1	19		3	3	48	N	G_C_A	2.284128e-09
C6orf134	79969	broad.mit.edu	37	chr6	30610646	30610646	+	Frame_Shift_Del	DEL	T	T	-																															gctccagcagcctgggaaacTcaccagaacgaggtcccctc																										TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:30610646delT	ENST00000376485.4	+	10	856	c.826delT	c.(826-828)tcafs	p.S276fs	ATAT1_ENST00000376483.4_Frame_Shift_Del_p.S276fs|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000318999.7_Frame_Shift_Del_p.S253fs|ATAT1_ENST00000329992.8_Frame_Shift_Del_p.S276fs|ATAT1_ENST00000330083.5_Frame_Shift_Del_p.S264fs|ATAT1_ENST00000319027.5_Frame_Shift_Del_p.S253fs|ATAT1_ENST00000376478.2_Frame_Shift_Del_p.S253fs					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CCTGGGAAACTCACCAGAACG	0.682																																						.											0													25	20	22					6																	30610646		2201	4298	6499	SO:0001589	frameshift_variant	79969			AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"alpha-tubulin N-acetyltransferase"	615556	"chromosome 6 open reading frame 134"	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.826delT	6.37:g.30610646delT	ENSP00000365668:p.Ser276fs			Frame_Shift_Del	DEL	ENST00000376485.4	37																																																																																					0.682	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		-	30610646	T	-	30610646	7	5	26	1	0	1	0	1	0	0	0	0	2330	1551	54	0	864	0	C6orf134	6	30610646	Frame_Shift_Del	DEL	T	TCGA-KM-8439-01A-11D-2310-10	13007736	30610646	140504421	19	1964											
MUC21	394263	mdanderson.org	37	chr6	30955201	30955201	+	Missense_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	ccagcacagtgtccagtgggGccagcactgccaccaattct	9	7	10	15	0	1	0	0	0	1	0	2	0	2	0	5	2	3	2	5	2	1	1	rs2508018	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:30955201G>A	ENST00000376296.3	+	2	1490	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	417	28 X 15 AA approximate tandem repeats.|Ser-rich.			A -> I (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						GTCCAGTGGGGCCAGCACTGC	0.627													g|||	404	0.0806709	0.0749	0.1427	5008	,	,		20374	0.0556		0.0805	False		,,,				2504	0.0706					.											0													140	136	137					6																	30955201		2203	4300	6503	SO:0001583	missense	394263			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.1249G>A	6.37:g.30955201G>A	ENSP00000365473:p.Ala417Thr		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	217	0.09935897435897435	48	0.0975609756097561	60	0.16574585635359115	55	0.09615384615384616	54	0.0712401055408971	g	0.076	-1.192559	0.01607	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01287	5.05	3.58	-7.16	0.01516	.	.	.	.	.	T	0.00178	0.0005	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45026	-0.9289	9	0.06625	T	0.88	-0.4275	6.7193	0.23321	0.1341:0.0:0.3783:0.4876	rs2508018;rs2508018	417	Q5SSG8	MUC21_HUMAN	T	267;417	ENSP00000365473:A417T	ENSP00000365473:A417T	A	+	1	0	MUC21	31063180	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.607000	0.02070	-2.884000	0.00318	0.586000	0.80456	GCC		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30955201	G	A	30955201	3	1	26	1	0	0	0	0	1	0	0	0	9977	1203	42	3	1255	3	MUC21	6	30955201	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	344555	30955201	140159866	20	1965											
FAM26F	441168	mdanderson.org	37	chr6	116783330	116783330	+	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	gcacgtggcgcctgctcaccGgatgctgctccagcgcccgc	4	6	13	18	5	1	0	1	0	0	0	2	1	2	1	4	2	4	4	4	2	0	0	rs1057192	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:116783330G>A	ENST00000368605.1	+	2	333	c.238G>A	c.(238-240)Gga>Aga	p.G80R	FAM26F_ENST00000368606.3_Intron|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	80			G -> R (in dbSNP:rs1057192).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CCTGCTCACCGGATGCTGCTC	0.721													G|||	1200	0.239617	0.0628	0.17	5008	,	,		13100	0.3651		0.2485	False		,,,				2504	0.3896					.											0								G	ARG/GLY	285,3437		11,263,1587	4	4	4		238	4.2	1	6	dbSNP_86	4	1331,5787		122,1087,2350	yes	missense	FAM26F	NM_001010919.1	125	133,1350,3937	AA,AG,GG		18.6991,7.6572,14.9077	probably-damaging	80/316	116783330	1616,9224	1861	3559	5420	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.238G>A	6.37:g.116783330G>A	ENSP00000357594:p.Gly80Arg		B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	492	0.22527472527472528	23	0.046747967479674794	64	0.17679558011049723	209	0.36538461538461536	196	0.25857519788918204	G	19.26	3.793370	0.70452	0.076572	0.186991	ENSG00000188820	ENST00000368605	T	0.24908	1.83	5.1	4.22	0.49857	.	0.060943	0.64402	D	0.000004	T	0.45498	0.1345	M	0.83223	2.63	0.09310	P	0.999999384292	D	0.89917	1.0	D	0.79784	0.993	T	0.59150	-0.7508	9	0.87932	D	0	-20.7189	15.7243	0.77743	0.0:0.137:0.863:0.0	rs1057192;rs3173147	80	Q5R3K3	FA26F_HUMAN	R	80	ENSP00000357594:G80R	ENSP00000357594:G80R	G	+	1	0	FAM26F	116890023	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.925000	0.63425	1.372000	0.46190	0.491000	0.48974	GGA		0.721	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		A	116783330	G	A	116783330	3	1	26	1	0	0	0	0	1	0	0	0	5551	1117	39	1	240	1	FAM26F	6	116783330	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	85828129	116783330	54331737	21	1966											
EYA4	2070	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	133789819	133789819	+	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	cgatggcacaccctcttcaaCctctacttatcagttgcagg	9	11	7	14	1	4	0	2	0	2	0	4	1	4	0	2	2	3	3	2	2	3	4			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr6:133789819C>A	ENST00000367895.5	+	11	1384	c.920C>A	c.(919-921)aCc>aAc	p.T307N	EYA4_ENST00000531901.1_Missense_Mutation_p.T307N|EYA4_ENST00000431403.2_Missense_Mutation_p.T307N|EYA4_ENST00000430974.2_Missense_Mutation_p.T253N|EYA4_ENST00000452339.2_Missense_Mutation_p.T253N|EYA4_ENST00000355167.3_Missense_Mutation_p.T307N|EYA4_ENST00000355286.6_Missense_Mutation_p.T284N|EYA4_ENST00000525849.1_Missense_Mutation_p.T284N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	307					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)		CCCTCTTCAACCTCTACTTAT	0.428																																					Melanoma(57;398 1237 3528 4702 7415)	.											0													144	134	137					6																	133789819		2203	4300	6503	SO:0001583	missense	2070			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.920C>A	6.37:g.133789819C>A	ENSP00000356870:p.Thr307Asn		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	9.714	1.157769	0.21454	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.73	5.73	0.89815	.	0.362558	0.29348	N	0.012408	T	0.64843	0.2635	L	0.29908	0.895	0.40010	D	0.975276	B;B;B;B;B;B	0.26845	0.001;0.001;0.161;0.05;0.004;0.0	B;B;B;B;B;B	0.29176	0.004;0.007;0.099;0.067;0.011;0.004	T	0.61197	-0.7111	10	0.24483	T	0.36	0.0301	20.27	0.98469	0.0:1.0:0.0:0.0	.	307;253;253;284;307;307	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	N	253;253;307;307;284;307;284;307	ENSP00000395916:T253N;ENSP00000388670:T253N;ENSP00000356870:T307N;ENSP00000347294:T307N;ENSP00000347434:T284N;ENSP00000432770:T307N;ENSP00000433219:T284N;ENSP00000404558:T307N	ENSP00000347294:T307N	T	+	2	0	EYA4	133831512	0.982000	0.34865	0.257000	0.24404	0.034000	0.12701	5.675000	0.68123	2.854000	0.98071	0.655000	0.94253	ACC		0.428	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		A	133789819	C	A	133789819	3	1	26	1	0	0	0	0	1	0	0	0	5331	507	18	5	958	5	EYA4	6	133789819	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	17006489	133789819	37325248	22	1967											
CYP2W1	54905	mdanderson.org	37	chr7	1023013	1023013	+	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	tgtcgcaacaggaccggtccCtgatggaggtaagtcaggga	10	7	15	9	2	1	1	1	1	0	0	3	4	2	4	2	5	1	2	2	5	2	1	rs2272375	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:1023013C>T	ENST00000308919.7	+	1	179	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	CYP2W1_ENST00000340150.6_5'UTR	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	56					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	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)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGACCGGTCCCTGATGGAGGT	0.711													C|||	1804	0.360224	0.5098	0.3343	5008	,	,		12799	0.3115		0.2744	False		,,,				2504	0.3149					.											0								C		1532,2094		347,838,628	11	10	10		166	4.5	0.8	7	dbSNP_100	10	1881,5021		306,1269,1876	no	coding-synonymous	CYP2W1	NM_017781.2		653,2107,2504	TT,TC,CC		27.253,42.2504,32.4183		56/491	1023013	3413,7115	1813	3451	5264	SO:0001819	synonymous_variant	54905			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.166C>T	7.37:g.1023013C>T				Silent	SNP	ENST00000308919.7	37	CCDS5319.2																																																																																				0.711	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		T	1023013	C	T	1023013	2	4	26	1	0	0	0	0	0	0	0	1	4176	680	24	4		4	CYP2W1	7	1023013	Silent	SNP	C	TCGA-KM-8439-01A-11D-2310-10		1023013	158115650	23	1968											
TNRC18	84629	ucsc.edu	37	chr7	5401630	5401630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtccagctccagggcgTccatgtcctccagggaggac	8	6	14	13	1	0	0	0	0	0	0	5	3	5	3	5	4	1	1	5	4	1	0			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:5401630T>C	ENST00000430969.1	-	13	4778	c.4430A>G	c.(4429-4431)gAc>gGc	p.D1477G	TNRC18_ENST00000399537.4_Missense_Mutation_p.D1477G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1477							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)		CTCCAGGGCGTCCATGTCCTC	0.657																																						.											0													27	30	29					7																	5401630		2077	4195	6272	SO:0001583	missense	84629			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.4430A>G	7.37:g.5401630T>C	ENSP00000395538:p.Asp1477Gly		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001004	0.74818	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.26067	1.91;1.91;1.76	5.52	4.36	0.52297	.	0.146929	0.31734	N	0.007157	T	0.30854	0.0778	M	0.78637	2.42	0.58432	D	0.999996	B	0.22541	0.071	B	0.17722	0.019	T	0.08493	-1.0719	10	0.54805	T	0.06	.	11.2443	0.48987	0.0:0.072:0.0:0.928	.	1477	O15417	TNC18_HUMAN	G	1477;1477;532;10	ENSP00000382452:D1477G;ENSP00000395538:D1477G;ENSP00000395990:D10G	ENSP00000382452:D1477G	D	-	2	0	TNRC18	5368156	1.000000	0.71417	0.948000	0.38648	0.829000	0.46940	3.427000	0.52785	0.933000	0.37291	0.459000	0.35465	GAC		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	5401630	T	C	5401630	3	2	26	1	0	0	0	0	1	0	0	0	16336	1667	58	2	4548	2	TNRC18	7	5401630	Missense_Mutation	SNP	T	TCGA-KM-8439-01A-11D-2310-10	4378617	5401630	153737033	24	1969											
WIPF3	644150	broad.mit.edu	37	chr7	29924113	29924114	+	Frame_Shift_Ins	INS	-	-	C																															taaatcccccagcttccaggINSccccaccgcagaaggccggt																										TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:29924113_29924114insC	ENST00000409290.1	+	4	1003_1004	c.1003_1004insC	c.(1003-1005)gccfs	p.A335fs	WIPF3_ENST00000242140.5_Frame_Shift_Ins_p.A335fs|WIPF3_ENST00000409123.1_Frame_Shift_Ins_p.A335fs	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	335					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CAGCTTCCAGGCCCCACCGCAG	0.668																																						.											0																																										SO:0001589	frameshift_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1007dupC	7.37:g.29924117_29924117dupC	ENSP00000386878:p.Ala335fs		B8ZZV2	Frame_Shift_Ins	INS	ENST00000409290.1	37	CCDS56472.1																																																																																				0.668	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			C	29924114	-	C	29924113	7	5	26	1	0	1	1	0	0	0	0	0	17366	1203	42	0	1017	0	WIPF3	7	29924113	Frame_Shift_Ins	INS	-	TCGA-KM-8439-01A-11D-2310-10	24522483	29924113	129214550	25	1970											
CALU	813	broad.mit.edu	37	chr7	128407599	128407599	+	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	ttgagtttcgggataagaacCgtgatgggaagatggacaag	13	9	15	4	2	0	4	0	2	0	2	1	7	0	7	1	3	1	1	1	3	4	3			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:128407599C>T	ENST00000249364.4	+	6	835	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	CALU_ENST00000449187.2_Missense_Mutation_p.R245C|CALU_ENST00000538546.1_Missense_Mutation_p.R94C|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000542996.2_Missense_Mutation_p.R253C|CALU_ENST00000479257.1_Missense_Mutation_p.R253C|CALU_ENST00000535011.2_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	245	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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						GGATAAGAACCGTGATGGGAA	0.488																																						.											0													192	179	183					7																	128407599		2203	4300	6503	SO:0001583	missense	813			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.733C>T	7.37:g.128407599C>T	ENSP00000249364:p.Arg245Cys		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	15.88|15.88	2.964695|2.964695	0.53507|0.53507	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000493278|ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257	.|T;T;T;T;T	.|0.56103	.|0.48;0.48;0.48;0.48;0.48	5.44|5.44	4.56|4.56	0.56223|0.56223	.|EF-hand-like domain (1);	.|0.267158	.|0.39759	.|N	.|0.001271	T|T	0.48519|0.48519	0.1504|0.1504	L|L	0.34521|0.34521	1.04|1.04	0.49798|0.49798	D|D	0.99982|0.99982	.|B;P	.|0.41102	.|0.002;0.738	.|B;P	.|0.44860	.|0.001;0.462	T|T	0.51826|0.51826	-0.8656|-0.8656	5|10	.|0.62326	.|D	.|0.03	-2.8562|-2.8562	13.5218|13.5218	0.61572|0.61572	0.1568:0.8432:0.0:0.0|0.1568:0.8432:0.0:0.0	.|.	.|253;245	.|D6QS48;O43852	.|.;CALU_HUMAN	L|C	76|253;94;245;245;253	.|ENSP00000438248:R253C;ENSP00000438994:R94C;ENSP00000249364:R245C;ENSP00000408838:R245C;ENSP00000420381:R253C	.|ENSP00000249364:R245C	P|R	+|+	2|1	0|0	CALU|CALU	128194835|128194835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.613000|2.613000	0.46351|0.46351	1.287000|1.287000	0.44583|0.44583	0.563000|0.563000	0.77884|0.77884	CCG|CGT		0.488	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		T	128407599	C	T	128407599	3	4	26	1	0	0	0	0	1	0	0	0	2594	652	23	1	949	1	CALU	7	128407599	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	98483486	128407599	30731064	26	1971											
IRF5	3663	ucsc.edu	37	chr7	128586594	128586594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcttttggtgcaggagAggaggaggaagaagaggaag	13	8	17	3	0	1	3	0	0	1	3	1	8	1	7	0	6	2	1	0	6	4	3			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr7:128586594A>G	ENST00000402030.2	+	4	497	c.425A>G	c.(424-426)gAg>gGg	p.E142G	IRF5_ENST00000249375.4_Missense_Mutation_p.E142G|IRF5_ENST00000477535.1_Missense_Mutation_p.E142G|IRF5_ENST00000357234.5_Missense_Mutation_p.E142G|IRF5_ENST00000473745.1_Missense_Mutation_p.E142G	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	142	Poly-Glu.				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						GGTGCAGGAGAGGAGGAGGAA	0.577																																						.											0													54	46	49					7																	128586594		2203	4300	6503	SO:0001583	missense	3663				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.425A>G	7.37:g.128586594A>G	ENSP00000385352:p.Glu142Gly		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.200015	0.58126	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000473745;ENST00000412326	D;D;D;D;D;D	0.98192	-4.78;-4.45;-4.48;-4.41;-4.41;-4.41	5.31	5.31	0.75309	.	1.083730	0.07191	N	0.855684	D	0.98570	0.9522	L	0.56769	1.78	0.35070	D	0.762351	B;D;B;D;D;B	0.76494	0.049;0.999;0.013;0.998;0.998;0.007	B;D;B;D;D;B	0.78314	0.039;0.991;0.01;0.991;0.979;0.006	D	0.95955	0.8957	10	0.37606	T	0.19	2.376	11.9478	0.52938	1.0:0.0:0.0:0.0	.	142;142;142;142;142;142	B4DLN8;F5H3H8;E7EW54;E9PC81;Q13568;Q13568-2	.;.;.;.;IRF5_HUMAN;.	G	142	ENSP00000418037:E142G;ENSP00000349770:E142G;ENSP00000419950:E142G;ENSP00000385352:E142G;ENSP00000249375:E142G;ENSP00000419149:E142G	ENSP00000249375:E142G	E	+	2	0	IRF5	128373830	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.674000	0.37544	2.134000	0.65973	0.533000	0.62120	GAG		0.577	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		G	128586594	A	G	128586594	3	3	26	1	0	0	0	0	1	0	0	0	7833	304	11	2	435	2	IRF5	7	128586594	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10	178995	128586594	30552069	27	1972											
CNTLN	54875	broad.mit.edu	37	chr9	17409364	17409364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcccagaaaataagtcctAcggaagatggaaaagaccag	18	5	9	9	1	0	3	0	0	0	3	2	5	2	5	3	2	1	0	3	2	7	2			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr9:17409364A>G	ENST00000380647.3	+	16	2773	c.2689A>G	c.(2689-2691)Acg>Gcg	p.T897A	CNTLN_ENST00000262360.5_Missense_Mutation_p.T897A|CNTLN_ENST00000425824.1_Missense_Mutation_p.T897A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	897					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)		AATAAGTCCTACGGAAGATGG	0.358																																						.											0													114	114	114					9																	17409364		1817	4080	5897	SO:0001583	missense	54875			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.2689A>G	9.37:g.17409364A>G	ENSP00000370021:p.Thr897Ala		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	5.196	0.221771	0.09863	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.17854	2.25;2.25;2.51	5.39	-0.865	0.10662	.	.	.	.	.	T	0.11665	0.0284	L	0.40543	1.245	0.09310	N	1	B;B;B	0.22604	0.072;0.0;0.0	B;B;B	0.24541	0.054;0.001;0.001	T	0.43163	-0.9408	9	0.08837	T	0.75	.	8.7416	0.34560	0.5684:0.0:0.4316:0.0	.	897;897;897	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	A	897	ENSP00000370021:T897A;ENSP00000392798:T897A;ENSP00000262360:T897A	ENSP00000262360:T897A	T	+	1	0	CNTLN	17399364	0.014000	0.17966	0.056000	0.19401	0.994000	0.84299	0.053000	0.14184	-0.319000	0.08652	0.482000	0.46254	ACG		0.358	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		G	17409364	A	G	17409364	3	3	26	1	0	0	0	0	1	0	0	0	3639	391	14	2	2781	2	CNTLN	9	17409364	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10		17409364	123804067	28	1973											
HSPA14	51182	broad.mit.edu	37	chr10	14890641	14890641	+	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	caagctcagaaatacatcgcGgaaagtaaatgtttagtgag	16	9	10	6	2	1	2	1	1	0	1	2	3	1	3	0	1	2	3	0	1	7	4	rs550196167	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr10:14890641G>A	ENST00000378372.3	+	4	494	c.255G>A	c.(253-255)gcG>gcA	p.A85A		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	85			A -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AATACATCGCGGAAAGTAAAT	0.328													G|||	4	0.000798722	0	0	5008	,	,		15226	0		0	False		,,,				2504	0.0041					.											0													107	94	99					10																	14890641		2203	4299	6502	SO:0001819	synonymous_variant	51182			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.255G>A	10.37:g.14890641G>A			A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	ENST00000378372.3	37	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	7.783	0.710013	0.15239	.	.	ENSG00000187522	ENST00000441647	.	.	.	5.89	-1.69	0.08186	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.43885	D	0.996505	.	.	.	.	.	.	T	0.28776	-1.0033	4	.	.	.	1.9634	1.2653	0.02010	0.47:0.1264:0.1488:0.2548	.	.	.	.	Q	74	.	.	R	+	2	0	HSPA14	14930647	0.001000	0.12720	0.105000	0.21289	0.995000	0.86356	-0.269000	0.08596	-0.193000	0.10415	0.655000	0.94253	CGG		0.328	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		A	14890641	G	A	14890641	2	1	26	1	0	0	0	0	0	0	0	1	7407	1103	39	1		1	HSPA14	10	14890641	Silent	SNP	G	TCGA-KM-8439-01A-11D-2310-10		14890641	120644106	29	1974											
ECHS1	1892	hgsc.bcm.edu	37	chr10	135186806	135186806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctcagcgggccgcggAcgcaggacagcaggacacgc	8	1	18	14	5	1	0	1	0	0	0	1	3	1	3	2	6	2	2	2	6	0	0	rs10466126	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr10:135186806A>G	ENST00000368547.3	-	1	387	c.32T>C	c.(31-33)gTc>gCc	p.V11A	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	11			V -> A (in dbSNP:rs10466126). {ECO:0000269|PubMed:8012501, ECO:0000269|PubMed:9073515}.		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)	p.V11A(1)		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)		CGGGCCGCGGACGCAGGACAG	0.731													a|||	3385	0.675919	0.2829	0.6988	5008	,	,		4830	0.9355		0.7674	False		,,,				2504	0.8292				GBM(132;1720 1771 5373 10277 21402)	.											1	Substitution - Missense(1)	NS(1)							ALA/VAL	1391,2679		274,843,918	9	14	12		32	-2.2	0	10	dbSNP_119	12	5886,2076		2263,1360,358	yes	missense	ECHS1	NM_004092.3	64	2537,2203,1276	GG,GA,AA		26.0739,34.1769,39.5196	benign	11/291	135186806	7277,4755	2035	3981	6016	SO:0001583	missense	1892				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.32T>C	10.37:g.135186806A>G	ENSP00000357535:p.Val11Ala		O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	1504	0.6886446886446886	143	0.29065040650406504	246	0.6795580110497238	528	0.9230769230769231	587	0.7744063324538258	a	3.615	-0.078697	0.07141	0.341769	0.739261	ENSG00000127884	ENST00000368547	T	0.61980	0.06	3.77	-2.17	0.07059	.	7.595850	0.03474	N	0.214060	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30387	-0.9980	9	0.08179	T	0.78	.	5.2902	0.15723	0.257:0.3372:0.4058:0.0	rs10466126;rs11542964;rs17348892	11	P30084	ECHM_HUMAN	A	11	ENSP00000357535:V11A	ENSP00000357535:V11A	V	-	2	0	ECHS1	135036796	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	-0.071000	0.11505	-0.255000	0.09486	-0.857000	0.03018	GTC		0.731	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			G	135186806	A	G	135186806	3	3	26	1	0	0	0	0	1	0	0	0	4896	275	10	2	872	2	ECHS1	10	135186806	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10	120296165	135186806	347941	30	1975											
TUB	7275	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	8120345	8120345	+	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	agttcactgtttatgacaatGgagtcaaccctcagaaggcc	12	10	9	10	0	3	2	3	1	0	1	3	3	3	3	2	2	1	2	2	2	4	3			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr11:8120345G>A	ENST00000299506.2	+	9	1188	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	TUB_ENST00000305253.4_Missense_Mutation_p.G402R|TUB_ENST00000534099.1_Missense_Mutation_p.G353R	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	347					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)		TTATGACAATGGAGTCAACCC	0.517											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													167	148	155					11																	8120345		2201	4296	6497	SO:0001583	missense	7275			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.1039G>A	11.37:g.8120345G>A	ENSP00000299506:p.Gly347Arg	646	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884132	0.91814	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96587	-4.06;-4.06;-4.06	5.12	5.12	0.69794	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.998	D	0.99264	1.0891	10	0.72032	D	0.01	0.6721	18.9192	0.92518	0.0:0.0:1.0:0.0	.	353;347;402	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	R	353;402;347	ENSP00000434400:G353R;ENSP00000305426:G402R;ENSP00000299506:G347R	ENSP00000299506:G347R	G	+	1	0	TUB	8076921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.523000	0.85059	0.555000	0.69702	GGA		0.517	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		A	8120345	G	A	8120345	3	1	26	1	0	0	0	0	1	0	0	0	16739	1349	47	4	1284	4	TUB	11	8120345	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		8120345	126886171	31	1976											
OR5M10	390167	broad.mit.edu	37	chr11	56344713	56344713	+	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	agaaggataagtgaaaggtcAgcagtgtctgagagagccca	15	6	14	6	0	2	4	1	2	1	2	2	6	2	5	1	2	2	1	1	2	3	1	rs140389540	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr11:56344713A>T	ENST00000526812.2	-	1	550	c.485T>A	c.(484-486)cTg>cAg	p.L162Q		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTGAAAGGTCAGCAGTGTCTG	0.468													A|||	9	0.00179712	0.0068	0	5008	,	,		20628	0		0	False		,,,				2504	0					.											0								A	GLN/LEU	60,3982		0,60,1961	141	137	139		485	4	0.4	11	dbSNP_134	139	1,8375		0,1,4187	yes	missense	OR5M10	NM_001004741.1	113	0,61,6148	TT,TA,AA		0.0119,1.4844,0.4912	probably-damaging	162/316	56344713	61,12357	2021	4188	6209	SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.485T>A	11.37:g.56344713A>T	ENSP00000436004:p.Leu162Gln		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	14.64	2.594840	0.46318	0.014844	1.19E-4	ENSG00000254834	ENST00000526812	T	0.00202	8.56	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.70842	2.15	0.26437	N	0.97585	D	0.76494	0.999	D	0.78314	0.991	T	0.55159	-0.8184	9	0.32370	T	0.25	.	7.7792	0.29056	0.7875:0.2125:0.0:0.0	.	162	Q6IEU7	OR5MA_HUMAN	Q	162	ENSP00000436004:L162Q	ENSP00000436004:L162Q	L	-	2	0	OR5M10	56101289	0.000000	0.05858	0.364000	0.25888	0.012000	0.07955	0.260000	0.18424	1.816000	0.52996	0.514000	0.50259	CTG		0.468	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		T	56344713	A	T	56344713	3	4	26	1	0	0	0	0	1	0	0	0	11173	188	7	5	466	5	OR5M10	11	56344713	Missense_Mutation	SNP	A	TCGA-KM-8439-01A-11D-2310-10	48224368	56344713	78661803	32	1977											
MS4A14	84689	broad.mit.edu	37	chr11	60165391	60165391	+	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	tatttgcacttaattacatcGgtttctcccaaagacttccc	10	15	4	12	1	1	1	0	0	1	1	4	1	2	1	2	1	2	2	2	1	4	6	rs368053345		TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr11:60165391G>A	ENST00000300187.6	+	2	482	c.205G>A	c.(205-207)Ggt>Agt	p.G69S	MS4A14_ENST00000531783.1_Missense_Mutation_p.G69S|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.G69S|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	69						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TAATTACATCGGTTTCTCCCA	0.433													c|||	1	0.000199681	0	0	5008	,	,		20648	0.001		0	False		,,,				2504	0					.											0													172	155	161					11																	60165391		2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.205G>A	11.37:g.60165391G>A	ENSP00000300187:p.Gly69Ser		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	c	14.63	2.593541	0.46214	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.28255	4.66;1.62;4.66;4.66	4.73	-9.46	0.00597	.	2.873630	0.00892	N	0.002244	T	0.08758	0.0217	N	0.01874	-0.695	0.09310	N	0.999999	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.23332	-1.0191	10	0.21014	T	0.42	7.4637	2.2494	0.04040	0.1554:0.43:0.1417:0.2729	.	69;69	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	S	69	ENSP00000300187:G69S;ENSP00000378453:G69S;ENSP00000435764:G69S;ENSP00000433761:G69S	ENSP00000300187:G69S	G	+	1	0	MS4A14	59921967	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.184000	0.01254	-2.949000	0.00294	-2.276000	0.00273	GGT		0.433	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			A	60165391	G	A	60165391	3	1	26	1	0	0	0	0	1	0	0	0	9858	1116	39	1	211	1	MS4A14	11	60165391	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10	3820678	60165391	74841125	33	1978											
PLCB3	5331	mdanderson.org	37	chr11	64026685	64026685	+	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	tctgccctgagcgagagctcCgcggccaccgagccctcctc	5	6	11	19	4	1	2	0	1	1	1	4	4	3	2	6	1	4	1	6	1	0	0	rs28395882	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr11:64026685C>T	ENST00000540288.1	+	13	1597	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	PLCB3_ENST00000279230.6_Silent_p.S498S|PLCB3_ENST00000325234.5_Silent_p.S431S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	498					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						GCGAGAGCTCCGCGGCCACCG	0.706													C|||	865	0.172724	0.0234	0.147	5008	,	,		12937	0.1339		0.3012	False		,,,				2504	0.3006					.											0								C	,	242,4066		8,226,1920	9	11	11		1494,1293	-9.8	0	11	dbSNP_126	11	2553,5907		423,1707,2100	no	coding-synonymous,coding-synonymous	PLCB3	NM_000932.2,NM_001184883.1	,	431,1933,4020	TT,TC,CC		30.1773,5.6175,21.8907	,	498/1235,431/1168	64026685	2795,9973	2154	4230	6384	SO:0001819	synonymous_variant	5331			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.1494C>T	11.37:g.64026685C>T			A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	CCDS8064.1																																																																																				0.706	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			T	64026685	C	T	64026685	2	4	26	1	0	0	0	0	0	0	0	1	12029	639	23	1		1	PLCB3	11	64026685	Silent	SNP	C	TCGA-KM-8439-01A-11D-2310-10	3861294	64026685	70979831	34	1979											
GOLGA3	2802	broad.mit.edu	37	chr12	133357472	133357472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatctggcgatcctccTcttctttgcgctgcaaaact	6	14	7	14	2	4	0	1	0	3	0	6	1	6	0	2	1	3	3	2	1	2	3			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr12:133357472T>C	ENST00000450791.2	-	17	3677	c.3494A>G	c.(3493-3495)gAg>gGg	p.E1165G	GOLGA3_ENST00000204726.3_Missense_Mutation_p.E1165G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1165G			Q08378	GOGA3_HUMAN	golgin A3	1165					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)		GCGATCCTCCTCTTCTTTGCG	0.542																																						.											0													159	127	138					12																	133357472		2203	4300	6503	SO:0001583	missense	2802			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.3494A>G	12.37:g.133357472T>C	ENSP00000410378:p.Glu1165Gly		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938390	0.92526	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.31769	1.48;1.48;1.48	5.61	5.61	0.85477	.	0.044464	0.85682	D	0.000000	T	0.54431	0.1858	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.55811	-0.8082	10	0.54805	T	0.06	.	15.4487	0.75257	0.0:0.0:0.0:1.0	.	1165;1165	Q08378-2;Q08378	.;GOGA3_HUMAN	G	1165	ENSP00000204726:E1165G;ENSP00000410378:E1165G;ENSP00000409303:E1165G	ENSP00000204726:E1165G	E	-	2	0	GOLGA3	131867545	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.123000	0.65237	0.523000	0.50628	GAG		0.542	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		C	133357472	T	C	133357472	3	2	26	1	0	0	0	0	1	0	0	0	6554	1551	54	2	1030	2	GOLGA3	12	133357472	Missense_Mutation	SNP	T	TCGA-KM-8439-01A-11D-2310-10		133357472	494423	35	1980											
TPP2	7174	broad.mit.edu	37	chr13	103328696	103328696	+	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	gtaaataaaatgtatgggagAggccttaaatttgcaactaa	17	11	9	4	0	0	1	0	0	0	1	0	2	0	1	1	2	2	3	1	2	9	6			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr13:103328696A>G	ENST00000376065.4	+	28	3627	c.3591A>G	c.(3589-3591)agA>agG	p.R1197R	TPP2_ENST00000376052.3_Silent_p.R1210R|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1197					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)					TGTATGGGAGAGGCCTTAAAT	0.264																																						.											0													61	62	62					13																	103328696		2200	4296	6496	SO:0001819	synonymous_variant	7174			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.3591A>G	13.37:g.103328696A>G			Q5VZU8	Silent	SNP	ENST00000376065.4	37	CCDS9502.1																																																																																				0.264	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			G	103328696	A	G	103328696	2	3	26	1	0	0	0	0	0	0	0	1	16409	301	11	2		2	TPP2	13	103328696	Silent	SNP	A	TCGA-KM-8439-01A-11D-2310-10		103328696	11841182	36	1981											
ZNF629	23361	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr16	30794552	30794552	+	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	ggtcctcgcgcaggtgagtcCgctggtgcttgatgagggtg	4	10	18	9	3	0	3	0	3	0	0	3	3	2	3	2	4	1	3	2	4	0	1			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr16:30794552C>T	ENST00000262525.4	-	3	1304	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	366					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)			CAGGTGAGTCCGCTGGTGCTT	0.662																																						.											0													33	34	34					16																	30794552		2197	4300	6497	SO:0001583	missense	23361			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.1097G>A	16.37:g.30794552C>T	ENSP00000262525:p.Arg366Gln		Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883279	0.72410	.	.	ENSG00000102870	ENST00000262525	T	0.24723	1.84	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000729	T	0.50650	0.1628	M	0.67397	2.05	0.35010	D	0.756778	D	0.76494	0.999	D	0.69479	0.964	T	0.61515	-0.7047	10	0.72032	D	0.01	-41.13	18.352	0.90342	0.0:1.0:0.0:0.0	.	366	Q9UEG4	ZN629_HUMAN	Q	366	ENSP00000262525:R366Q	ENSP00000262525:R366Q	R	-	2	0	ZNF629	30702053	0.000000	0.05858	0.991000	0.47740	0.994000	0.84299	0.578000	0.23773	2.629000	0.89072	0.561000	0.74099	CGG		0.662	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		T	30794552	C	T	30794552	3	4	26	1	0	0	0	0	1	0	0	0	18050	652	23	1	1516	1	ZNF629	16	30794552	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10		30794552	59560201	37	1982											
CHST6	4166	broad.mit.edu	37	chr16	75512651	75512651	+	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	cgtcctcagagtacacaggcCggtagcccagcagctgcagc	9	5	12	15	2	1	1	1	0	0	1	2	1	2	1	3	2	6	5	3	2	2	2			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr16:75512651C>T	ENST00000332272.4	-	3	1255	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R359Q	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	359					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						GTACACAGGCCGGTAGCCCAG	0.662																																						.											0													53	52	52					16																	75512651		2198	4300	6498	SO:0001583	missense	4166			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.1076G>A	16.37:g.75512651C>T	ENSP00000328983:p.Arg359Gln		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643316	0.29246	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99741	-6.6;-6.6	4.8	3.85	0.44370	.	0.286130	0.34676	N	0.003771	D	0.98080	0.9367	L	0.50919	1.6	0.32964	D	0.521424	P	0.35411	0.5	B	0.23150	0.044	D	0.99974	1.2126	10	0.26408	T	0.33	.	7.3925	0.26917	0.0:0.8004:0.0:0.1996	.	359	Q9GZX3	CHST6_HUMAN	Q	359	ENSP00000328983:R359Q;ENSP00000375079:R359Q	ENSP00000328983:R359Q	R	-	2	0	CHST6	74070152	0.978000	0.34361	0.995000	0.50966	0.593000	0.36681	1.106000	0.31098	1.021000	0.39600	0.591000	0.81541	CGG		0.662	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		T	75512651	C	T	75512651	3	4	26	1	0	0	0	0	1	0	0	0	3408	652	23	1	115	1	CHST6	16	75512651	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	44718099	75512651	14842102	38	1983											
GUCY2D	3000	mdanderson.org	37	chr17	7906519	7906519	+	Missense_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	tgcagccccccgccctctccGccgtgttcacggtgggggtc	2	8	13	18	4	2	0	1	0	1	0	4	0	2	0	6	3	2	2	6	3	0	1	rs61749665	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr17:7906519G>T	ENST00000254854.4	+	2	304	c.154G>T	c.(154-156)Gcc>Tcc	p.A52S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	52			A -> S (in LCA1; unknown pathological significance; dbSNP:rs61749665). {ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:8944027}.		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)				cgccctctccgccgTGTTCAC	0.776													G|||	2083	0.415935	0.1369	0.4107	5008	,	,		7307	0.6935		0.327	False		,,,				2504	0.6022					.											0								G	SER/ALA	396,2736		31,334,1201	2	2	2	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	154	0.2	0	17	dbSNP_129	2	1601,4981		200,1201,1890	no	missense	GUCY2D	NM_000180.3	99	231,1535,3091	TT,TG,GG		24.3239,12.6437,20.558	benign	52/1104	7906519	1997,7717	1566	3291	4857	SO:0001583	missense	3000			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.154G>T	17.37:g.7906519G>T	ENSP00000254854:p.Ala52Ser		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	823	0.3768315018315018	61	0.12398373983739837	132	0.36464088397790057	383	0.6695804195804196	247	0.3258575197889182	G	10.96	1.499163	0.26861	0.126437	0.243239	ENSG00000132518	ENST00000254854	D	0.83075	-1.68	4.65	0.187	0.15109	.	0.608923	0.13562	N	0.378720	T	0.00012	0.0000	M	0.65498	2.005	0.80722	P	0.0	B	0.27117	0.168	B	0.21546	0.035	T	0.48681	-0.9014	9	0.09590	T	0.72	.	3.8844	0.09091	0.2473:0.0:0.4661:0.2866	rs61749665	52	Q02846	GUC2D_HUMAN	S	52	ENSP00000254854:A52S	ENSP00000254854:A52S	A	+	1	0	GUCY2D	7847244	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.039000	0.12124	-0.193000	0.10415	-0.188000	0.12872	GCC		0.776	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			T	7906519	G	T	7906519	3	4	26	1	0	0	0	0	1	0	0	0	6897	1087	38	5	156	5	GUCY2D	17	7906519	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		7906519	73288691	39	1984											
WNT3	7473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	44847153	44847153	+	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	gggtagccgggctcaccgtgCggcccgcctcgttgttgtgc	2	9	16	14	5	1	0	1	0	0	0	2	0	1	0	4	3	3	4	4	3	1	3			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr17:44847153C>T	ENST00000225512.5	-	3	746	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	195					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)			GCTCACCGTGCGGCCCGCCTC	0.701																																						.											0													30	29	29					17																	44847153		2201	4299	6500	SO:0001583	missense	7473			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.584G>A	17.37:g.44847153C>T	ENSP00000225512:p.Arg195His		Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452269	0.96223	.	.	ENSG00000108379	ENST00000225512	D	0.81739	-1.53	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.95710	0.8757	10	0.87932	D	0	.	17.3636	0.87358	0.0:1.0:0.0:0.0	.	195	P56703	WNT3_HUMAN	H	195	ENSP00000225512:R195H	ENSP00000225512:R195H	R	-	2	0	WNT3	42202321	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.608000	0.82898	2.330000	0.79161	0.561000	0.74099	CGC		0.701	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		T	44847153	C	T	44847153	3	4	26	1	0	0	0	0	1	0	0	0	17385	768	27	1	491	1	WNT3	17	44847153	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	36940634	44847153	36348057	40	1985											
LAMA3	3909	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr18	21404467	21404467	+	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	tccctggaaatggttttgcaGacccattttcaatcacacca	11	12	6	12	0	2	1	2	0	0	1	3	2	3	2	3	2	1	2	3	2	2	4			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr18:21404467G>T	ENST00000313654.9	+	21	2750	c.2509G>T	c.(2509-2511)Gac>Tac	p.D837Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.D837Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	837	Domain IV 1 (domain IV B).				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)	p.D837N(1)		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)					TGGTTTTGCAGACCCATTTTC	0.458																																						.											1	Substitution - Missense(1)	lung(1)											128	127	127					18																	21404467		1909	4116	6025	SO:0001583	missense	3909			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.2509G>T	18.37:g.21404467G>T	ENSP00000324532:p.Asp837Tyr		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981565	0.53827	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18502	2.22;2.21	5.95	4.13	0.48395	.	.	.	.	.	T	0.16557	0.0398	L	0.36672	1.1	0.80722	D	1	P;P	0.46706	0.818;0.883	B;B	0.39876	0.23;0.312	T	0.01416	-1.1360	9	0.87932	D	0	.	16.6665	0.85254	0.0:0.2449:0.7551:0.0	.	837;837	Q6VU67;Q16787	.;LAMA3_HUMAN	Y	837;837;835	ENSP00000324532:D837Y;ENSP00000382432:D837Y	ENSP00000324532:D837Y	D	+	1	0	LAMA3	19658465	1.000000	0.71417	0.707000	0.30419	0.968000	0.65278	4.162000	0.58177	0.814000	0.34374	0.655000	0.94253	GAC		0.458	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21404467	G	T	21404467	3	4	26	1	0	0	0	0	1	0	0	0	8607	942	33	5	2591	5	LAMA3	18	21404467	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		21404467	56672781	41	1986											
TSHZ1	10194	broad.mit.edu	37	chr18	72997839	72997839	+	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	agctccgcccccacccccacAccccccacctgccccgtcag	6	3	5	27	2	1	0	1	0	0	0	2	0	2	0	11	0	2	1	11	0	0	0			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr18:72997839A>C	ENST00000580243.1	+	2	825	c.477A>C	c.(475-477)acA>acC	p.T159T	TSHZ1_ENST00000322038.5_Silent_p.T114T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	159	Ser-rich.				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)		ccacccccacaccccccacct	0.642																																						.											0													8	9	9					18																	72997839		2191	4276	6467	SO:0001819	synonymous_variant	10194			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.477A>C	18.37:g.72997839A>C			O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																					0.642	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		C	72997839	A	C	72997839	2	2	26	1	0	0	0	0	0	0	0	1	16620	146	6	5		5	TSHZ1	18	72997839	Silent	SNP	A	TCGA-KM-8439-01A-11D-2310-10	51593372	72997839	5079409	42	1987											
UPF1	5976	ucsc.edu	37	chr19	18976950	18976950	+	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	ggcttaccagcatggcggggTgacggggctgtcccagtatt	6	9	16	10	2	0	1	0	1	0	0	1	1	1	1	2	6	2	4	2	6	2	3			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr19:18976950T>G	ENST00000599848.1	+	23	3577	c.3368T>G	c.(3367-3369)gTg>gGg	p.V1123G	UPF1_ENST00000262803.5_Missense_Mutation_p.V1112G			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1123	Gln/Ser-rich.				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						CATGGCGGGGTGACGGGGCTG	0.617																																						.											0													38	34	35					19																	18976950		2203	4300	6503	SO:0001583	missense	5976			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.3368T>G	19.37:g.18976950T>G	ENSP00000470142:p.Val1123Gly		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	t	19.56	3.850660	0.71719	.	.	ENSG00000005007	ENST00000262803	D	0.90676	-2.71	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	N	0.08118	0	0.80722	D	1	P;P	0.38167	0.487;0.621	B;B	0.34385	0.088;0.181	T	0.80790	-0.1225	10	0.34782	T	0.22	-33.7285	13.4981	0.61438	0.0:0.0:0.0:1.0	.	1123;1112	Q92900;Q92900-2	RENT1_HUMAN;.	G	1112	ENSP00000262803:V1112G	ENSP00000262803:V1112G	V	+	2	0	UPF1	18837950	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.680000	0.84062	1.883000	0.54544	0.398000	0.26397	GTG		0.617	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		G	18976950	T	G	18976950	3	3	26	1	0	0	0	0	1	0	0	0	17000	1696	59	5	3425	5	UPF1	19	18976950	Missense_Mutation	SNP	T	TCGA-KM-8439-01A-11D-2310-10		18976950	40152033	43	1988											
SOX12	6666	mdanderson.org	37	chr20	307249	307249	+	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	ccgtcggaggacgaggagccGgaggaagaggaggaggaggc	11	1	22	7	4	0	1	0	0	0	1	1	10	0	9	2	9	1	0	2	9	1	0	rs147752920|rs532036846	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr20:307249G>A	ENST00000342665.2	+	1	1011	c.681G>A	c.(679-681)ccG>ccA	p.P227P	SOX12_ENST00000544632.1_Silent_p.P227P|RP5-1103G7.4_ENST00000414676.1_RNA|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	227	Asp/Glu-rich (acidic).|Poly-Glu.				cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			acgaggagccggaggaagagg	0.756													G|||	11	0.00219649	0	0	5008	,	,		9459	0		0.0109	False		,,,				2504	0					.											0													8	6	7					20																	307249		1920	3767	5687	SO:0001819	synonymous_variant	6666			U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.681G>A	20.37:g.307249G>A			Q5D038|Q9NUD4	Silent	SNP	ENST00000342665.2	37	CCDS12995.1																																																																																				0.756	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		A	307249	G	A	307249	2	1	26	1	0	0	0	0	0	0	0	1	14943	1103	39	1		1	SOX12	20	307249	Silent	SNP	G	TCGA-KM-8439-01A-11D-2310-10		307249	62718271	44	1989											
GDF5	8200	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr20	34021967	34021967	+	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	aaggggtgcgatgatccagtCgtcccagcccatgtccttga	8	9	12	12	2	0	2	0	2	0	0	4	3	3	2	4	2	2	0	4	2	1	1			TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr20:34021967C>T	ENST00000374372.1	-	4	1749	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	GDF5OS_ENST00000374375.1_Missense_Mutation_p.S4L|GDF5_ENST00000374369.3_Missense_Mutation_p.D416N			P43026	GDF5_HUMAN	growth differentiation factor 5	416					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)			ATGATCCAGTCGTCCCAGCCC	0.602																																						.											0													127	110	116					20																	34021967		2203	4300	6503	SO:0001583	missense	8200			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.1246G>A	20.37:g.34021967C>T	ENSP00000363492:p.Asp416Asn		E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.664367|4.664367	0.88251|0.88251	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	D;D|.	0.89343|.	-2.5;-2.5|.	4.4|4.4	4.4|4.4	0.53042|0.53042	Transforming growth factor-beta, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74604|0.74604	0.3738|0.3738	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.78909|0.78909	-0.2018|-0.2018	10|6	0.87932|0.87932	D|D	0|0	.|.	17.1668|17.1668	0.86818|0.86818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	416;416|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	N|L	416|4	ENSP00000363489:D416N;ENSP00000363492:D416N|.	ENSP00000363489:D416N|ENSP00000363495:S4L	D|S	-|+	1|2	0|0	GDF5|GDF5OS	33485381|33485381	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	7.651000|7.651000	0.83577|0.83577	2.266000|2.266000	0.75297|0.75297	0.462000|0.462000	0.41574|0.41574	GAC|TCG		0.602	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			T	34021967	C	T	34021967	3	4	26	1	0	0	0	0	1	0	0	0	6316	884	31	1	263	1	GDF5	20	34021967	Missense_Mutation	SNP	C	TCGA-KM-8439-01A-11D-2310-10	33714718	34021967	29003553	45	1990											
PKDREJ	10343	mdanderson.org;bcgsc.ca	37	chr22	46656278	46656278	+	Missense_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	gaaagctaaacccacctgtcGtcttcttcaaggacccatca	12	9	6	14	1	4	0	2	0	2	0	5	2	4	1	3	1	2	1	3	1	4	3	rs117787407	byFrequency	TCGA-KM-8439-01A-11D-2310-10	TCGA-KM-8439-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d3b0b87-5fc5-4d09-9c63-4d5fc4bc46d0	1f433ac7-b321-46a9-87ac-c72ad5b1b4e5	g.chr22:46656278G>A	ENST00000253255.5	-	1	2941	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	981					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)		CCCACCTGTCGTCTTCTTCAA	0.483													G|||	3	0.000599042	0	0	5008	,	,		22339	0		0.003	False		,,,				2504	0					.											0								G	MET/THR	0,4406		0,0,2203	148	143	145		2942	5.2	0.1	22	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PKDREJ	NM_006071.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	981/2254	46656278	1,13005	2203	4300	6503	SO:0001583	missense	10343			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.2942C>T	22.37:g.46656278G>A	ENSP00000253255:p.Thr981Met		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	19.28	3.796581	0.70567	0.0	1.16E-4	ENSG00000130943	ENST00000253255	T	0.54279	0.58	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000006	T	0.71600	0.3359	M	0.65498	2.005	0.34984	D	0.754398	D	0.89917	1.0	D	0.77004	0.989	T	0.79455	-0.1796	10	0.66056	D	0.02	-18.7004	18.0551	0.89362	0.0:0.0:1.0:0.0	.	981	Q9NTG1	PKDRE_HUMAN	M	981	ENSP00000253255:T981M	ENSP00000253255:T981M	T	-	2	0	PKDREJ	45034942	0.993000	0.37304	0.108000	0.21378	0.082000	0.17680	3.927000	0.56499	2.598000	0.87819	0.655000	0.94253	ACG		0.483	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46656278	G	A	46656278	3	1	26	1	0	0	0	0	1	0	0	0	11970	1145	40	1	3823	1	PKDREJ	22	46656278	Missense_Mutation	SNP	G	TCGA-KM-8439-01A-11D-2310-10		46656278	4648288	46	1991											
CR1	1378	mdanderson.org	37	chr1	207787831	207787831	+	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	atagcagtgttccagtgtgtGaacgtgagtagaaagaacta	14	10	12	5	1	0	4	0	2	0	2	1	4	1	4	1	0	3	3	1	0	6	4			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr1:207787831G>T	ENST00000367049.4	+	40	6658	c.6658G>T	c.(6658-6660)Gaa>Taa	p.E2220*	CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					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)	p.E2220*(6)|p.E1775*(6)		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						TCCAGTGTGTGAACGTGAGTA	0.408																																						.											12	Substitution - Nonsense(12)	kidney(8)|endometrium(4)											131	122	125					1																	207787831		1887	4127	6014	SO:0001587	stop_gained	1378			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.6658G>T	1.37:g.207787831G>T	ENSP00000356016:p.Glu2220*		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	45	12.061806	0.99632	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.9543	0.58418	0.0:0.0:1.0:0.0	.	.	.	.	X	1770;1770;1770;1770;2220	.	ENSP00000356016:E2220X	E	+	1	0	CR1	205854454	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	2.536000	0.45693	2.316000	0.78162	0.436000	0.28706	GAA		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		T	207787831	G	T	207787831	4	4	27	1	0	0	0	0	0	1	0	0	3840	1291	45	5	6816	5	CR1	1	207787831	Nonsense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10		207787831	41462790	1	1992											
EXOC8	149371	ucsc.edu;bcgsc.ca	37	chr1	231473244	231473244	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctgagctggtacatcTcgctctccaggtaggagatc	9	10	12	10	1	2	2	0	1	2	1	5	3	2	2	1	4	2	5	1	4	3	2			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr1:231473244T>C	ENST00000360394.2	-	1	334	c.248A>G	c.(247-249)gAg>gGg	p.E83G	EXOC8_ENST00000366645.1_Missense_Mutation_p.E79G|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'UTR	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	83					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)				CTGGTACATCTCGCTCTCCAG	0.637																																						.											0													57	47	50					1																	231473244		2203	4300	6503	SO:0001583	missense	149371			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.248A>G	1.37:g.231473244T>C	ENSP00000353564:p.Glu83Gly		B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095866	0.76870	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	D;D	0.84660	-1.88;-1.88	5.78	4.59	0.56863	.	0.053552	0.64402	D	0.000001	D	0.92198	0.7526	M	0.87269	2.87	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	D	0.93047	0.6462	10	0.62326	D	0.03	-27.3345	12.6391	0.56698	0.0:0.0:0.1379:0.8621	.	83	Q8IYI6	EXOC8_HUMAN	G	83;79	ENSP00000353564:E83G;ENSP00000355605:E79G	ENSP00000353564:E83G	E	-	2	0	EXOC8	229539867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.049000	0.71053	2.198000	0.70561	0.528000	0.53228	GAG		0.637	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		C	231473244	T	C	231473244	3	2	27	1	0	0	0	0	1	0	0	0	5311	1551	54	2	1933	2	EXOC8	1	231473244	Missense_Mutation	SNP	T	TCGA-KM-8440-01A-11D-2310-10	23685413	231473244	17777377	2	1993											
BIRC6	57448	broad.mit.edu;mdanderson.org	37	chr2	32694461	32694461	+	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	actgttttctttcttgtaatAggacactctgttcctgcagt	7	18	7	9	0	3	0	0	0	3	0	4	1	4	1	1	1	1	4	1	1	2	7			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr2:32694461A>G	ENST00000421745.2	+	30	6261		c.e30-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						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)					TTCTTGTAATAGGACACTCTG	0.368																																					Pancreas(94;175 1509 16028 18060 45422)	.											0													82	80	81					2																	32694461		2203	4300	6503	SO:0001630	splice_region_variant	57448			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.6128-1A>G	2.37:g.32694461A>G			Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395497	0.83011	.	.	ENSG00000115760	ENST00000421745	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0416	0.71796	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32547965	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	2.014000	0.59158	0.477000	0.44152	.		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	G	32694461	A	G	32694461	5	3	27	1	0	0	0	0	0	0	1	0	1438	434	15	2	6244	2	BIRC6	2	32694461	Splice_Site	SNP	A	TCGA-KM-8440-01A-11D-2310-10		32694461	210504912	3	1994											
CTNNA2	1496	broad.mit.edu;mdanderson.org	37	chr2	80816475	80816475	+	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	ggagaaggcaaaaatagctgAgcaggtggagatattccatc	15	7	13	6	0	0	3	0	1	0	2	2	5	1	3	1	4	2	3	1	4	5	3			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr2:80816475A>T	ENST00000402739.4	+	14	2059	c.2054A>T	c.(2053-2055)gAg>gTg	p.E685V	AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E685V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E685V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E685V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E719V|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E364V|CTNNA2_ENST00000466387.1_Missense_Mutation_p.E685V|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	685					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						AAAATAGCTGAGCAGGTGGAG	0.507																																						.											0													90	98	95					2																	80816475		2191	4299	6490	SO:0001583	missense	1496				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.2054A>T	2.37:g.80816475A>T	ENSP00000384638:p.Glu685Val		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	A	21.6	4.172010	0.78452	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.77616	2.38	0.80722	D	1	B;D;D;D	0.65815	0.354;0.993;0.991;0.995	B;D;P;D	0.65987	0.355;0.94;0.9;0.931	T	0.73786	-0.3873	9	.	.	.	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	317;685;685;685	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	V	685;685;719;685;685;685;364	ENSP00000418191:E685V;ENSP00000419295:E685V;ENSP00000355398:E719V;ENSP00000384638:E685V;ENSP00000444675:E685V;ENSP00000441705:E685V;ENSP00000341500:E364V	.	E	+	2	0	CTNNA2	80669986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.109000	0.94291	2.288000	0.76882	0.533000	0.62120	GAG		0.507	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		T	80816475	A	T	80816475	3	4	27	1	0	0	0	0	1	0	0	0	4013	304	11	5	1900	5	CTNNA2	2	80816475	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	48122014	80816475	162382898	4	1995											
RNF181	51255	ucsc.edu	37	chr2	85823695	85823695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttggtagtagattgggAccaccacctgcctccaccag	8	8	13	12	0	0	1	0	0	0	1	1	2	1	2	6	4	1	3	6	4	2	4			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr2:85823695A>G	ENST00000306368.4	+	2	170	c.140A>G	c.(139-141)gAc>gGc	p.D47G	RNF181_ENST00000441634.1_Missense_Mutation_p.D47G	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	47					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						GTAGATTGGGACCACCACCTG	0.498																																						.											0													65	66	66					2																	85823695		2203	4300	6503	SO:0001583	missense	51255			AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.140A>G	2.37:g.85823695A>G	ENSP00000306906:p.Asp47Gly		Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141952	0.57044	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000414390	D;D	0.90504	-2.68;-2.68	5.75	4.58	0.56647	.	0.191798	0.52532	D	0.000063	D	0.85805	0.5782	L	0.47016	1.485	0.41740	D	0.989605	B	0.06786	0.001	B	0.08055	0.003	T	0.79122	-0.1933	10	0.21540	T	0.41	.	11.1994	0.48733	0.8458:0.1542:0.0:0.0	.	47	Q9P0P0	RN181_HUMAN	G	47	ENSP00000412025:D47G;ENSP00000306906:D47G	ENSP00000306906:D47G	D	+	2	0	RNF181	85677206	1.000000	0.71417	0.966000	0.40874	0.041000	0.13682	7.088000	0.76901	0.976000	0.38417	0.533000	0.62120	GAC		0.498	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		G	85823695	A	G	85823695	3	3	27	1	0	0	0	0	1	0	0	0	13465	275	10	2	146	2	RNF181	2	85823695	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	5007220	85823695	157375678	5	1996											
RBMS3	27303	broad.mit.edu;bcgsc.ca	37	chr3	29628650	29628650	+	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	tcctgcagccgcacagaaagCggtagcatctctcaaggcaa	12	6	10	13	2	2	1	1	0	1	1	4	1	3	1	2	2	4	5	2	2	4	1			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr3:29628650C>T	ENST00000383767.2	+	4	689	c.353C>T	c.(352-354)gCg>gTg	p.A118V	RBMS3_ENST00000456853.1_Missense_Mutation_p.A118V|RBMS3_ENST00000445033.1_Missense_Mutation_p.A118V|RBMS3_ENST00000396583.3_Missense_Mutation_p.A118V|RBMS3_ENST00000383766.2_Missense_Mutation_p.A117V|RBMS3_ENST00000273139.9_Missense_Mutation_p.A118V|RBMS3_ENST00000452462.1_Missense_Mutation_p.A118V|RBMS3_ENST00000434693.2_Missense_Mutation_p.A117V			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	118	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCACAGAAAGCGGTAGCATCT	0.388																																						.											0													124	131	129					3																	29628650		2203	4300	6503	SO:0001583	missense	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.353C>T	3.37:g.29628650C>T	ENSP00000373277:p.Ala118Val		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609392	0.96637	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.62788	-0.0;1.28;-0.0;-0.0;-0.0;1.28;-0.0;1.28	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.69078	0.997;0.985;0.996;0.99	P;P;P;P	0.62014	0.841;0.897;0.836;0.843	T	0.70392	-0.4884	9	.	.	.	.	19.9655	0.97263	0.0:1.0:0.0:0.0	.	118;118;117;118	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	V	117;118;118;118;118;117;118;118	ENSP00000395592:A117V;ENSP00000379828:A118V;ENSP00000373277:A118V;ENSP00000391934:A118V;ENSP00000273139:A118V;ENSP00000373276:A117V;ENSP00000397926:A118V;ENSP00000400519:A118V	.	A	+	2	0	RBMS3	29603654	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	7.818000	0.86416	2.732000	0.93576	0.542000	0.68232	GCG		0.388	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		T	29628650	C	T	29628650	3	4	27	1	0	0	0	0	1	0	0	0	13150	768	27	1	367	1	RBMS3	3	29628650	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		29628650	168393780	6	1997											
RAD54L2	23132	broad.mit.edu	37	chr3	51690165	51690165	+	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	agcgtgcaggagtccttgtgCagaaggtggtcaccacgaca	10	7	14	10	2	1	1	1	0	0	1	2	3	2	2	2	3	3	2	2	3	1	1			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr3:51690165C>T	ENST00000409535.2	+	19	3330	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.Q763*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1069						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)		AGTCCTTGTGCAGAAGGTGGT	0.493																																						.											0													73	64	67					3																	51690165		2203	4300	6503	SO:0001587	stop_gained	23132			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.3205C>T	3.37:g.51690165C>T	ENSP00000386520:p.Gln1069*		Q8TB57|Q9BV54	Nonsense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.947530|9.947530	0.99302|0.99302	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77785|.	0.4182|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78448|.	-0.2200|.	3|.	.|0.56958	.|D	.|0.05	-14.7333|-14.7333	18.7862|18.7862	0.91955|0.91955	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	897|1069;763	.|.	.|ENSP00000296477:Q763X	A|Q	+|+	2|1	0|0	RAD54L2|RAD54L2	51665205|51665205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.453000|7.453000	0.80700|0.80700	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.493	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		T	51690165	C	T	51690165	4	4	27	1	0	0	0	0	0	1	0	0	12994	711	25	4	3275	4	RAD54L2	3	51690165	Nonsense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	22061515	51690165	146332265	7	1998											
DGKQ	1609	broad.mit.edu	37	chr4	961063	961063	+	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	gccttgcccccagcccaggcGtcacaggcctgagaggaagg	8	4	14	15	1	1	1	1	1	0	1	1	3	1	2	5	4	2	0	5	4	1	1	rs376274353		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:961063G>A	ENST00000273814.3	-	9	1147	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	358					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)			CAGCCCAGGCGTCACAGGCCT	0.726													G|||	1	0.000199681	0	0	5008	,	,		10427	0		0	False		,,,				2504	0.001				Esophageal Squamous(17;537 645 4447 26373)	.											0								G		0,4126		0,0,2063	8	11	10		1074	-7.6	0	4		10	1,8143		0,1,4071	no	coding-synonymous	DGKQ	NM_001347.2		0,1,6134	AA,AG,GG		0.0123,0.0,0.0081		358/943	961063	1,12269	2063	4072	6135	SO:0001819	synonymous_variant	1609			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.1074C>T	4.37:g.961063G>A			Q6P3W4	Silent	SNP	ENST00000273814.3	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	4.346	0.063712	0.08388	0.0	1.23E-4	ENSG00000145214	ENST00000509465	.	.	.	3.78	-7.55	0.01327	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	5.4238	0.16415	0.6615:0.1082:0.1219:0.1084	.	.	.	.	M	305	.	.	T	-	2	0	DGKQ	951063	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.351000	0.07711	-2.330000	0.00633	-1.723000	0.00705	ACG		0.726	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			A	961063	G	A	961063	2	1	27	1	0	0	0	0	0	0	0	1	4473	1136	40	1		1	DGKQ	4	961063	Silent	SNP	G	TCGA-KM-8440-01A-11D-2310-10		961063	190193213	8	1999											
KLB	152831	mdanderson.org	37	chr4	39448542	39448542	+	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	tacgaccggcagttcaggccCtcacagcgcggggccgtgtc	6	6	14	15	5	2	0	2	0	0	0	3	1	2	0	3	4	2	2	3	4	1	2	rs7685429	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:39448542C>G	ENST00000257408.4	+	4	2293	c.2196C>G	c.(2194-2196)ccC>ccG	p.P732P		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	732	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						AGTTCAGGCCCTCACAGCGCG	0.701													G|||	3832	0.765176	0.7201	0.8516	5008	,	,		16291	0.7212		0.7505	False		,,,				2504	0.8252					.											0								G		3156,1242		1134,888,177	25	27	26		2196	-2.3	0	4	dbSNP_116	26	6590,1996		2531,1528,234	no	coding-synonymous	KLB	NM_175737.3		3665,2416,411	GG,GC,CC		23.2471,28.2401,24.9384		732/1045	39448542	9746,3238	2199	4293	6492	SO:0001819	synonymous_variant	152831			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.2196C>G	4.37:g.39448542C>G			Q2M3K8	Silent	SNP	ENST00000257408.4	37	CCDS3451.1																																																																																				0.701	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		G	39448542	C	G	39448542	2	3	27	1	0	0	0	0	0	0	0	1	8332	668	24	5		5	KLB	4	39448542	Silent	SNP	C	TCGA-KM-8440-01A-11D-2310-10	38487479	39448542	151705734	9	2000											
NUDT9	53343	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr4	88379168	88379168	+	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	ctgaagctgactgccatgcgTtgtagctgatggtctccgtg	6	12	13	10	2	1	3	0	3	1	0	2	3	1	3	2	1	4	4	2	1	2	2			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:88379168T>C	ENST00000302174.4	+	8	1372	c.1048T>C	c.(1048-1050)Ttg>Ctg	p.L350L	RP11-710E1.2_ENST00000609450.1_lincRNA|NUDT9_ENST00000473942.1_Silent_p.L300L	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	350					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)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CTGCCATGCGTTGTAGCTGAT	0.458																																						.											0													83	72	75					4																	88379168		2203	4300	6503	SO:0001819	synonymous_variant	53343			AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.1048T>C	4.37:g.88379168T>C			Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	CCDS3620.1																																																																																				0.458	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			C	88379168	T	C	88379168	2	2	27	1	0	0	0	0	0	0	0	1	10746	1722	60	2		2	NUDT9	4	88379168	Silent	SNP	T	TCGA-KM-8440-01A-11D-2310-10	48930626	88379168	102775108	10	2001											
H2AFZ	3015	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr4	100870503	100870503	+	Missense_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	ccacacgtccatgactggtcGtcctagattttaggtgtcga	8	12	10	11	3	0	2	0	1	0	1	4	3	2	2	3	2	0	0	3	2	2	3			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:100870503G>T	ENST00000296417.5	-	3	339	c.122C>A	c.(121-123)aCg>aAg	p.T41K	H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	41					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		ATGACTGGTCGTCCTAGATTT	0.488											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													60	59	59					4																	100870503		2203	4300	6503	SO:0001583	missense	3015			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.122C>A	4.37:g.100870503G>T	ENSP00000296417:p.Thr41Lys	1354	B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333693	0.60853	.	.	ENSG00000164032	ENST00000296417	T	0.67523	-0.27	3.76	3.76	0.43208	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	N	0.10945	0.07	0.80722	D	1	P	0.39022	0.655	B	0.29598	0.104	T	0.58289	-0.7662	10	0.72032	D	0.01	.	15.7927	0.78380	0.0:0.0:1.0:0.0	.	41	P0C0S5	H2AZ_HUMAN	K	41	ENSP00000296417:T41K	ENSP00000296417:T41K	T	-	2	0	H2AFZ	101089526	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.608000	0.90895	1.938000	0.56188	0.555000	0.69702	ACG		0.488	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		T	100870503	G	T	100870503	3	4	27	1	0	0	0	0	1	0	0	0	6931	1145	40	5	276	5	H2AFZ	4	100870503	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	12491335	100870503	90283773	11	2002											
FRG1	2483	mdanderson.org	37	chr4	190874235	190874235	+	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	tccaatagttgatgagggccCtagtcctccagagcagttta	10	11	10	10	0	0	3	0	2	0	1	3	3	3	3	4	1	1	3	4	1	4	5			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr4:190874235C>T	ENST00000226798.4	+	4	494	c.272C>T	c.(271-273)cCt>cTt	p.P91L	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	91					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GATGAGGGCCCTAGTCCTCCA	0.284																																						.											0													11	11	11					4																	190874235		2004	4059	6063	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.272C>T	4.37:g.190874235C>T	ENSP00000226798:p.Pro91Leu		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.005972	0.74932	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.71817	2.12;-0.6	3.71	3.71	0.42584	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	M	0.89904	3.07	0.80722	D	1	P	0.46987	0.888	P	0.57776	0.827	D	0.87755	0.2594	10	0.72032	D	0.01	-24.9555	13.8593	0.63550	0.0:1.0:0.0:0.0	.	91	Q14331	FRG1_HUMAN	L	91;28	ENSP00000226798:P91L;ENSP00000435943:P28L	ENSP00000226798:P91L	P	+	2	0	FRG1	191111229	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	5.379000	0.66196	2.022000	0.59522	0.632000	0.83419	CCT		0.284	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		T	190874235	C	T	190874235	3	4	27	1	0	0	0	0	1	0	0	0	6046	681	24	4	286	4	FRG1	4	190874235	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	90003732	190874235	280041	12	2003											
TCERG1	10915	hgsc.bcm.edu	37	chr5	145838641	145838641	+	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	gcccaggctcaggctcaggcCcaggcccaggcccaggccca	7	2	13	19	0	2	0	2	0	0	0	2	0	2	0	5	6	0	2	5	6	0	0			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr5:145838641C>T	ENST00000296702.5	+	4	671	c.633C>T	c.(631-633)gcC>gcT	p.A211A	TCERG1_ENST00000394421.2_Silent_p.A211A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	211	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)	p.A211A(1)		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)			aggctcaggcccaggcccagg	0.731																																						.											1	Substitution - coding silent(1)	central_nervous_system(1)											11	15	13					5																	145838641		2184	4278	6462	SO:0001819	synonymous_variant	10915			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.633C>T	5.37:g.145838641C>T			Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.731	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		T	145838641	C	T	145838641	2	4	27	1	0	0	0	0	0	0	0	1	15682	610	22	3		3	TCERG1	5	145838641	Silent	SNP	C	TCGA-KM-8440-01A-11D-2310-10		145838641	35076619	13	2004											
MUC21	394263	mdanderson.org	37	chr6	30955119	30955119	+	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	gtgtccagtggggccagcacAgccaccacctctgagtccag	8	6	12	15	0	1	1	0	1	1	0	3	1	3	1	6	2	2	1	6	2	0	0	rs55918804	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr6:30955119A>T	ENST00000376296.3	+	2	1408	c.1167A>T	c.(1165-1167)acA>acT	p.T389T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	389	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						GGGCCAGCACAGCCACCACCT	0.637																																						.											0													143	140	141					6																	30955119		2203	4294	6497	SO:0001819	synonymous_variant	394263			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.1167A>T	6.37:g.30955119A>T			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																				0.637	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30955119	A	T	30955119	2	4	27	1	0	0	0	0	0	0	0	1	9977	175	7	5		5	MUC21	6	30955119	Silent	SNP	A	TCGA-KM-8440-01A-11D-2310-10		30955119	140159948	14	2005											
KCNK16	83795	ucsc.edu;bcgsc.ca	37	chr6	39290273	39290273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggccagcagcaggggcAgcacccggccaccccagcag	10	1	13	17	1	0	0	0	0	0	0	0	0	0	0	5	4	4	5	5	4	1	1			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr6:39290273A>G	ENST00000373229.5	-	1	57	c.44T>C	c.(43-45)cTg>cCg	p.L15P	KCNK16_ENST00000373227.4_Missense_Mutation_p.L15P|KCNK16_ENST00000425054.2_Missense_Mutation_p.L15P|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.L15P	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	15					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)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CAGCAGGGGCAGCACCCGGCC	0.662																																						.											0													24	22	23					6																	39290273		2203	4298	6501	SO:0001583	missense	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.44T>C	6.37:g.39290273A>G	ENSP00000362326:p.Leu15Pro		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785389	0.49997	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000373227;ENST00000437525	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.79	5.79	0.91817	.	0.279371	0.30519	N	0.009456	T	0.23886	0.0578	M	0.78049	2.395	0.80722	D	1	B;B;B;B	0.31769	0.076;0.125;0.339;0.076	B;B;B;B	0.33620	0.016;0.037;0.167;0.016	T	0.21655	-1.0239	10	0.87932	D	0	.	9.8431	0.41010	0.9213:0.0:0.0787:0.0	.	15;15;15;15	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	P	15	ENSP00000362326:L15P;ENSP00000391498:L15P;ENSP00000362324:L15P;ENSP00000415375:L15P	ENSP00000362324:L15P	L	-	2	0	KCNK16	39398251	0.992000	0.36948	0.992000	0.48379	0.454000	0.32378	1.697000	0.37784	2.208000	0.71279	0.459000	0.35465	CTG		0.662	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		G	39290273	A	G	39290273	3	3	27	1	0	0	0	0	1	0	0	0	8063	188	7	2	1294	2	KCNK16	6	39290273	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	8335154	39290273	131824794	15	2006											
POM121C	100101267	broad.mit.edu	37	chr7	75055685	75055686	+	Frame_Shift_Ins	INS	-	-	CC																															ccggtgtctgggagcgggatINSgaggctgggctagagaaggg																										TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:75055685_75055686insCC	ENST00000257665.5	-	6	1255_1256	c.1256_1257insGG	c.(1255-1257)tcafs	p.S419fs	POM121C_ENST00000473168.1_Intron|POM121C_ENST00000453279.2_Frame_Shift_Ins_p.S177fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	419	Pore side. {ECO:0000255}.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGGAGCGGGATGAGGCTGGGCT	0.505																																						.											0																																										SO:0001589	frameshift_variant	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1256_1257insGG	7.37:g.75055685_75055686insCC	ENSP00000257665:p.Ser419fs		O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000257665.5	37																																																																																					0.505	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		CC	75055686	-	CC	75055685	7	5	27	1	0	1	1	0	0	0	0	0	12240	1451	51	0	2464	0	POM121C	7	75055685	Frame_Shift_Ins	INS	-	TCGA-KM-8440-01A-11D-2310-10		75055685	84082978	16	2007											
TRIM4	89122	broad.mit.edu	37	chr7	99514382	99514382	+	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	cttctcttccattcatccacGtggatgtcaaagttacctgt	8	15	6	12	1	3	0	2	0	1	0	6	1	5	1	3	1	1	1	3	1	2	4			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:99514382G>A	ENST00000355947.2	-	2	543	c.414C>T	c.(412-414)caC>caT	p.H138H	TRIM4_ENST00000349062.2_Intron|TRIM4_ENST00000354241.5_Intron	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	138					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				attcatccacgtggatgtcaa	0.403																																						.											0													208	216	213					7																	99514382		2203	4300	6503	SO:0001819	synonymous_variant	89122			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.414C>T	7.37:g.99514382G>A			A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	CCDS5679.1																																																																																				0.403	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		A	99514382	G	A	99514382	2	1	27	1	0	0	0	0	0	0	0	1	16511	1136	40	1		1	TRIM4	7	99514382	Silent	SNP	G	TCGA-KM-8440-01A-11D-2310-10	24458697	99514382	59624281	17	2008											
KLF14	136259	mdanderson.org	37	chr7	130418525	130418525	+	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	gggatcgggtcggagaagccGgacgaggcgcgtggagcttc	7	5	20	9	6	0	1	0	0	0	1	3	6	0	4	1	6	2	1	1	6	1	1	rs76603546	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:130418525G>A	ENST00000310992.4	-	1	363	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CGGAGAAGCCGGACGAGGCGC	0.746													G|||	1930	0.385383	0.1067	0.4697	5008	,	,		9011	0.5397		0.498	False		,,,				2504	0.4274					.											0								G		729,3497		105,519,1489	6	10	8		336	-6.1	0	7	dbSNP_131	8	3856,4508		998,1860,1324	no	coding-synonymous	KLF14	NM_138693.2		1103,2379,2813	AA,AG,GG		46.1023,17.2504,36.4178		112/324	130418525	4585,8005	2113	4182	6295	SO:0001819	synonymous_variant	136259			AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.336C>T	7.37:g.130418525G>A			Q19A42|Q19A43	Silent	SNP	ENST00000310992.4	37	CCDS5825.1																																																																																				0.746	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		A	130418525	G	A	130418525	2	1	27	1	0	0	0	0	0	0	0	1	8342	1103	39	1		1	KLF14	7	130418525	Silent	SNP	G	TCGA-KM-8440-01A-11D-2310-10	30904143	130418525	28720138	18	2009											
PRSS1	5644	mdanderson.org	37	chr7	142460779	142460779	+	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	aaggagttgtctcctggggtGatggctgtgcccagaagaac	9	9	15	8	0	1	3	0	1	1	2	2	4	1	4	2	4	2	2	2	4	3	1	rs574391339		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:142460779G>T	ENST00000311737.7	+	5	658	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	PRSS1_ENST00000486171.1_Missense_Mutation_p.D232Y	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTCCTGGGGTGATGGCTGTGC	0.522													g|||	1	0.000199681	0	0	5008	,	,		16476	0.001		0	False		,,,				2504	0					.											0													81	82	82					7																	142460779		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.652G>T	7.37:g.142460779G>T	ENSP00000308720:p.Asp218Tyr		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.097197	0.00034	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.88896	-2.44;-2.44	3.18	1.99	0.26369	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.434585	0.27223	N	0.020352	T	0.65417	0.2689	N	0.02765	-0.5	0.24198	N	0.995522	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56444	-0.7978	10	0.02654	T	1	.	4.1291	0.10141	0.3145:0.0:0.1737:0.5118	.	232;218	E7EQ64;P07477	.;TRY1_HUMAN	Y	232;218;208	ENSP00000417854:D232Y;ENSP00000308720:D218Y	ENSP00000308720:D218Y	D	+	1	0	PRSS1	142140353	0.000000	0.05858	0.995000	0.50966	0.013000	0.08279	0.233000	0.17911	0.385000	0.24970	-1.375000	0.01183	GAT		0.522	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			T	142460779	G	T	142460779	3	4	27	1	0	0	0	0	1	0	0	0	12614	1290	45	5	670	5	PRSS1	7	142460779	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	12042254	142460779	16677884	19	2010											
MLL3	58508	mdanderson.org	37	chr7	151962290	151962290	+	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	actgcacagtttgcatcttcCttcgctataattaacagtga	11	14	6	10	1	1	1	0	1	1	0	3	1	2	1	1	0	3	4	1	0	3	6			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr7:151962290C>G	ENST00000262189.6	-	8	1235	c.1017G>C	c.(1015-1017)aaG>aaC	p.K339N	KMT2C_ENST00000355193.2_Missense_Mutation_p.K339N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	339					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)										TTGCATCTTCCTTCGCTATAA	0.368																																						.											0													77	71	73					7																	151962290		2203	4299	6502	SO:0001583	missense	58508			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.1017G>C	7.37:g.151962290C>G	ENSP00000262189:p.Lys339Asn		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	6.180	0.401340	0.11696	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98822	-5.16;-5.16	4.65	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43416	U	0.000576	D	0.97807	0.9280	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95779	0.8815	10	0.14656	T	0.56	.	11.2491	0.49015	0.0:0.8451:0.0:0.1549	.	339	Q8NEZ4	MLL3_HUMAN	N	339	ENSP00000262189:K339N;ENSP00000347325:K339N	ENSP00000262189:K339N	K	-	3	2	MLL3	151593223	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	1.789000	0.38724	1.072000	0.40860	-0.262000	0.10625	AAG		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151962290	C	G	151962290	3	3	27	1	0	0	0	0	1	0	0	0	9622	680	24	5	13926	5	MLL3	7	151962290	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	9501511	151962290	7176373	20	2011											
EEF1D	1936	mdanderson.org	37	chr8	144671244	144671244	+	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	gcttcgaggcaccaggccacCcgcagggcctcggcagcgtg	6	4	15	16	4	0	0	0	0	0	0	2	1	0	0	4	4	1	4	4	4	0	1	rs4874160	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr8:144671244C>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000423316.2_Silent_p.R336R|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000442189.2_Silent_p.R336R|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532741.1_Silent_p.R386R|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCAGGCCACCCGCAGGGCCT	0.662													G|||	3218	0.642572	0.4879	0.7536	5008	,	,		16212	0.5149		0.8499	False		,,,				2504	0.6912					.											0								G	,,,,,,	2422,1970		730,962,504	22	21	22		1008,,,,,,1008	2.6	1	8	dbSNP_111	22	7854,740		3631,592,74	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	EEF1D	NM_001130053.2,NM_001130055.2,NM_001130056.2,NM_001130057.2,NM_001195203.1,NM_001960.4,NM_032378.4	,,,,,,	4361,1554,578	AA,AC,CC		8.6107,44.8543,20.8686	,,,,,,	336/648,,,,,,336/648	144671244	10276,2710	2196	4297	6493	SO:0001627	intron_variant	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2225G>T	8.37:g.144671244C>A			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	CCDS6405.1																																																																																				0.662	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		A	144671244	C	A	144671244	1	1	27	0	1	0	0	0	0	0	0	0	4926	610	22	5		5	EEF1D	8	144671244	Intron	SNP	C	TCGA-KM-8440-01A-11D-2310-10		144671244	1692778	21	2012											
ZNF658	26149	mdanderson.org	37	chr9	40775035	40775035	+	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	atgtgatcaactttaaaataCcctaaaatgagaaaaattga	20	11	5	5	0	1	3	1	3	0	1	1	4	1	3	1	0	2	0	1	0	8	5	rs62561230	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr9:40775035C>T	ENST00000602553.1	-	5	534	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ZNF658_ENST00000377626.3_Splice_Site_p.G80G|ZNF658_ENST00000441795.1_Splice_Site_p.G78G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	80					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(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTTTAAAATACCCTAAAATGA	0.299													T|||	3162	0.63139	0.6687	0.7046	5008	,	,		6646	0.748		0.6451	False		,,,				2504	0.3947					.											0													15	18	17					9																	40775035		714	1718	2432	SO:0001630	splice_region_variant	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.239-1G>A	9.37:g.40775035C>T			Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	CCDS35023.1																																																																																				0.299	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	Silent	T	40775035	C	T	40775035	5	4	27	1	0	0	0	0	0	0	1	0	18066	521	18	3	2943	3	ZNF658	9	40775035	Splice_Site	SNP	C	TCGA-KM-8440-01A-11D-2310-10		40775035	100438396	22	2013											
TTC16	158248	mdanderson.org	37	chr9	130487157	130487157	+	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	tgctgcaggagaagatgggcTtctgcgagcagaggcgcaag	10	6	17	8	2	1	3	0	0	1	3	1	5	1	3	0	3	4	5	0	3	2	1	rs77630455	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr9:130487157T>G	ENST00000373289.3	+	9	1320	c.1240T>G	c.(1240-1242)Ttc>Gtc	p.F414V	TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'Flank|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	414										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GAAGATGGGCTTCTGCGAGCA	0.726													T|||	33	0.00658946	0.0234	0.0029	5008	,	,		12083	0		0	False		,,,				2504	0					.											0								T	VAL/PHE	100,4252		2,96,2078	8	9	8		1240	1	0	9	dbSNP_131	8	0,8550		0,0,4275	yes	missense	TTC16	NM_144965.1	50	2,96,6353	GG,GT,TT		0.0,2.2978,0.7751	benign	414/874	130487157	100,12802	2176	4275	6451	SO:0001583	missense	158248			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.1240T>G	9.37:g.130487157T>G	ENSP00000362386:p.Phe414Val		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	CCDS6875.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	T	10.99	1.506864	0.26949	0.022978	0.0	ENSG00000167094	ENST00000373289	T	0.62498	0.02	4.86	1.03	0.20045	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.802502	0.11065	N	0.603527	T	0.26122	0.0637	L	0.27053	0.805	0.19300	N	0.99998	P;P	0.45176	0.852;0.852	B;B	0.39217	0.294;0.294	T	0.12016	-1.0564	10	0.38643	T	0.18	-5.8329	4.0479	0.09781	0.0:0.3269:0.182:0.4912	.	401;414	B4DZ42;Q8NEE8	.;TTC16_HUMAN	V	414	ENSP00000362386:F414V	ENSP00000362386:F414V	F	+	1	0	TTC16	129526978	0.000000	0.05858	0.010000	0.14722	0.018000	0.09664	-0.338000	0.07842	0.211000	0.20683	0.260000	0.18958	TTC		0.726	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		G	130487157	T	G	130487157	3	3	27	1	0	0	0	0	1	0	0	0	16680	1609	56	5	1274	5	TTC16	9	130487157	Missense_Mutation	SNP	T	TCGA-KM-8440-01A-11D-2310-10	89712122	130487157	10726274	23	2014											
TUBB8	347688	mdanderson.org	37	chr10	94006	94006	+	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	ctgactccatcagctccgcgCcttcggtgtagtgtcccttg	4	12	10	15	3	1	1	1	1	0	0	5	1	4	1	4	1	1	2	4	1	1	3	rs368995010		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr10:94006C>T	ENST00000309812.4	-	4	388	c.326G>A	c.(325-327)gGc>gAc	p.G109D	TUBB8_ENST00000332708.5_Missense_Mutation_p.A73T|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.G37D	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	109					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)		CAGCTCCGCGCCTTCGGTGTA	0.607																																					Pancreas(192;2041 3010 9013 18103)	.											0													73	62	66					10																	94006		2203	4300	6503	SO:0001583	missense	347688			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.326G>A	10.37:g.94006C>T	ENSP00000311042:p.Gly109Asp		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.54|12.54	1.968692|1.968692	0.34754|0.34754	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000309812;ENST00000332708|ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	.|T	.|0.75704	.|-0.96	.|.	.|.	.|.	.|Tubulin/FtsZ, GTPase domain (4);	.|0.000000	.|0.64402	.|U	.|0.000010	D|D	0.90594|0.90594	0.7051|0.7051	H|H	0.99777|0.99777	4.77|4.77	0.39819|0.39819	D|D	0.972819|0.972819	.|D;D	.|0.89917	.|0.997;1.0	.|D;D	.|0.97110	.|0.982;1.0	D|D	0.86775|0.86775	0.1975|0.1975	5|9	0.87932|0.87932	D|D	0|0	.|.	5.9051|5.9051	0.18992|0.18992	0.0:0.9992:0.0:8.0E-4|0.0:0.9992:0.0:8.0E-4	.|.	.|72;109	.|C9JAA5;Q3ZCM7	.|.;TBB8_HUMAN	T|D	117;73|37;75;72;109	.|ENSP00000403895:G37D	ENSP00000311042:A117T|ENSP00000272035:G75D	A|G	-|-	1|2	0|0	RP11-631M21.2|RP11-631M21.2	84006|84006	0.998000|0.998000	0.40836|0.40836	0.282000|0.282000	0.24776|0.24776	0.286000|0.286000	0.27126|0.27126	5.268000|5.268000	0.65536|0.65536	0.119000|0.119000	0.18210|0.18210	0.121000|0.121000	0.15741|0.15741	GCG|GGC		0.607	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	94006	C	T	94006	3	4	27	1	0	0	0	0	1	0	0	0	16758	739	26	3	1012	3	TUBB8	10	94006	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		94006	135440741	24	2015											
CELF2	10659	hgsc.bcm.edu	37	chr10	11207550	11207550	+	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	acagatcccccggtcatggtCggaaaaggagctgaaagaac	14	5	12	10	2	1	3	1	1	0	2	3	5	2	5	2	4	2	1	2	4	4	0			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr10:11207550C>T	ENST00000379261.4	+	2	247	c.155C>T	c.(154-156)tCg>tTg	p.S52L	CELF2_ENST00000608830.1_Missense_Mutation_p.S28L|CELF2_ENST00000354897.3_Missense_Mutation_p.S28L|CELF2_ENST00000315874.4_Missense_Mutation_p.S28L|CELF2_ENST00000609692.1_Missense_Mutation_p.S28L|CELF2_ENST00000354440.2_Missense_Mutation_p.S28L|CELF2_ENST00000416382.2_Missense_Mutation_p.S52L|CELF2_ENST00000417956.2_Missense_Mutation_p.S28L|CELF2_ENST00000450189.1_Missense_Mutation_p.S59L|CELF2_ENST00000542579.1_Missense_Mutation_p.S59L|CELF2_ENST00000427450.1_Missense_Mutation_p.S28L|CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000399850.3_Missense_Mutation_p.S28L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	52	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGGTCATGGTCGGAAAAGGAG	0.527																																						.											0													89	94	93					10																	11207550		1945	4147	6092	SO:0001583	missense	10659			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.155C>T	10.37:g.11207550C>T	ENSP00000368563:p.Ser52Leu		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644377	0.67244	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450	T;T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.46157	1.445	0.80722	D	1	D;D;P;P;D;D;D	0.56035	0.957;0.957;0.802;0.92;0.974;0.969;0.957	P;P;B;B;P;P;P	0.51582	0.556;0.674;0.138;0.381;0.558;0.544;0.674	T	0.00546	-1.1678	10	0.62326	D	0.03	-5.2597	19.807	0.96535	0.0:1.0:0.0:0.0	.	36;52;28;47;59;47;52	B4DDE7;B4DS31;B4DSZ2;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	L	52;52;59;59;28;28;28;28;28;28	ENSP00000368563:S52L;ENSP00000406451:S52L;ENSP00000389951:S59L;ENSP00000443926:S59L;ENSP00000382743:S28L;ENSP00000404834:S28L;ENSP00000315328:S28L;ENSP00000346426:S28L;ENSP00000388530:S28L	ENSP00000315328:S28L	S	+	2	0	CELF2	11247556	1.000000	0.71417	0.976000	0.42696	0.967000	0.64934	5.846000	0.69444	2.759000	0.94783	0.563000	0.77884	TCG		0.527	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	11207550	C	T	11207550	3	4	27	1	0	0	0	0	1	0	0	0	3216	893	31	1	239	1	CELF2	10	11207550	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	11113544	11207550	124327197	25	2016											
PDCD11	22984	ucsc.edu	37	chr10	105160258	105160258	+	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	gaaagcagcaagtccgcaagAgagaagtttgaaatccttag	16	7	11	7	1	0	3	0	1	0	2	2	5	2	3	2	0	2	4	2	0	6	2			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr10:105160258A>G	ENST00000369797.3	+	3	301	c.207A>G	c.(205-207)agA>agG	p.R69R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	69					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)		AGTCCGCAAGAGAGAAGTTTG	0.373																																						.											0													121	133	129					10																	105160258		2203	4300	6503	SO:0001819	synonymous_variant	22984			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.207A>G	10.37:g.105160258A>G			Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	CCDS31276.1																																																																																				0.373	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			G	105160258	A	G	105160258	2	3	27	1	0	0	0	0	0	0	0	1	11617	301	11	2		2	PDCD11	10	105160258	Silent	SNP	A	TCGA-KM-8440-01A-11D-2310-10	93952708	105160258	30374489	26	2017											
KRTAP5-4	387267	hgsc.bcm.edu	37	chr11	1643255	1643255	+	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	cccccacagccagagccacaGcccccacagccggagccaca	11	0	8	22	1	0	1	0	0	0	1	0	2	0	2	8	1	5	0	8	1	0	0			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr11:1643255G>A	ENST00000399682.1	-	1	113	c.69C>T	c.(67-69)ggC>ggT	p.G23G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.G23G(1)		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)		cagagccacagcccccacagc	0.687																																						.											1	Substitution - coding silent(1)	kidney(1)											4	8	7					11																	1643255		646	1526	2172	SO:0001819	synonymous_variant	387267			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.69C>T	11.37:g.1643255G>A				Silent	SNP	ENST00000399682.1	37																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643255	G	A	1643255	2	1	27	1	0	0	0	0	0	0	0	1	8563	958	34	4		4	KRTAP5-4	11	1643255	Silent	SNP	G	TCGA-KM-8440-01A-11D-2310-10		1643255	133363261	27	2018											
VWCE	220001	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	61026257	61026257	+	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	agaggtggtgggagaaagcaCgcgaggcccgaggagggtga	11	3	21	6	3	0	3	0	1	0	2	0	7	0	4	1	6	1	1	1	6	1	0	rs550040653		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr11:61026257C>T	ENST00000335613.5	-	20	3144	c.2758G>A	c.(2758-2760)Gtg>Atg	p.V920M	VWCE_ENST00000535710.1_Missense_Mutation_p.V385M	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	920						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						GGAGAAAGCACGCGAGGCCCG	0.667																																						.											0													58	65	63					11																	61026257		2203	4299	6502	SO:0001583	missense	220001			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.2758G>A	11.37:g.61026257C>T	ENSP00000334186:p.Val920Met		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	T	9.953	1.220611	0.22457	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.69175	-0.38;3.49	4.81	2.16	0.27623	.	0.708805	0.11573	N	0.550511	T	0.42630	0.1211	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26780	-1.0093	10	0.40728	T	0.16	.	5.9278	0.19122	0.0:0.3978:0.0:0.6022	.	920	Q96DN2	VWCE_HUMAN	M	920;385	ENSP00000334186:V920M;ENSP00000442570:V385M	ENSP00000334186:V920M	V	-	1	0	VWCE	60782833	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.048000	0.14078	0.290000	0.22444	-0.361000	0.07541	GTG		0.667	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		T	61026257	C	T	61026257	3	4	27	1	0	0	0	0	1	0	0	0	17242	536	19	1	113	1	VWCE	11	61026257	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	59383002	61026257	73980259	28	2019											
AHNAK	79026	broad.mit.edu	37	chr11	62294617	62294617	+	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	ccctcaatgtcaatgtctggCccactgacatccacatgtgg	9	10	8	14	0	3	1	2	1	1	0	4	1	4	1	3	2	0	0	3	2	2	0	rs143003772		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr11:62294617C>T	ENST00000378024.4	-	5	7546	c.7272G>A	c.(7270-7272)ggG>ggA	p.G2424G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2424					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)				CAATGTCTGGCCCACTGACAT	0.478																																						.											0													78	76	77					11																	62294617		2202	4299	6501	SO:0001819	synonymous_variant	79026			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.7272G>A	11.37:g.62294617C>T			A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62294617	C	T	62294617	2	4	27	1	0	0	0	0	0	0	0	1	414	726	26	3		3	AHNAK	11	62294617	Silent	SNP	C	TCGA-KM-8440-01A-11D-2310-10	1268360	62294617	72711899	29	2020											
MAML2	84441	hgsc.bcm.edu	37	chr11	95825362	95825362	+	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	tgttgctgttgctgttgctgCtgctgctgctgttgctgctg	0	18	14	9	0	0	0	0	0	0	0	0	0	0	0	0	0	9	13	0	0	0	4			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr11:95825362C>T	ENST00000524717.1	-	2	3117	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	611					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.Q611Q(2)	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)				gctgttgctgctgctgctgct	0.542			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											39	44	42					11																	95825362		2057	4042	6099	SO:0001819	synonymous_variant	84441			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.1833G>A	11.37:g.95825362C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.542	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825362	C	T	95825362	2	4	27	1	0	0	0	0	0	0	0	1	9206	796	28	4		4	MAML2	11	95825362	Silent	SNP	C	TCGA-KM-8440-01A-11D-2310-10	33530745	95825362	39181154	30	2021											
MLL2	8085	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	49436390	49436390	+	Missense_Mutation	SNP	T	T	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	gaggcctgggtaggagtccaTtgggctgctggagggcagat	7	8	19	7	0	0	1	0	0	0	1	1	4	1	3	2	6	1	4	2	6	1	2	rs372271746		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr12:49436390T>C	ENST00000301067.7	-	27	5820	c.5821A>G	c.(5821-5823)Atg>Gtg	p.M1941V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1941					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)										TAGGAGTCCATTGGGCTGCTG	0.562																																						.											0								T	VAL/MET	1,3979		0,1,1989	63	69	67		5821	4.2	1	12		67	0,8330		0,0,4165	no	missense	MLL2	NM_003482.3	21	0,1,6154	CC,CT,TT		0.0,0.0251,0.0081	benign	1941/5538	49436390	1,12309	1990	4165	6155	SO:0001583	missense	8085			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.5821A>G	12.37:g.49436390T>C	ENSP00000301067:p.Met1941Val		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	9.790	1.177703	0.21787	2.51E-4	0.0	ENSG00000167548	ENST00000301067	T	0.79352	-1.26	5.36	4.18	0.49190	.	0.163095	0.29424	N	0.012200	T	0.60508	0.2274	N	0.12182	0.205	0.31552	N	0.658643	B	0.14012	0.009	B	0.11329	0.006	T	0.61888	-0.6970	10	0.87932	D	0	.	9.4065	0.38464	0.1589:0.0:0.0:0.8411	.	1941	O14686	MLL2_HUMAN	V	1941	ENSP00000301067:M1941V	ENSP00000301067:M1941V	M	-	1	0	MLL2	47722657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.991000	0.40727	0.836000	0.34901	0.459000	0.35465	ATG		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49436390	T	C	49436390	3	2	27	1	0	0	0	0	1	0	0	0	9621	1493	52	4	10904	4	MLL2	12	49436390	Missense_Mutation	SNP	T	TCGA-KM-8440-01A-11D-2310-10		49436390	84415505	31	2022											
RBM19	9904	hgsc.bcm.edu;ucsc.edu	37	chr12	114261040	114261040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccagctcacagctgaaGggtctgctcctcgctgtcgc	5	9	13	14	2	2	1	1	1	1	0	5	1	3	1	2	2	4	4	2	2	1	0			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr12:114261040G>T	ENST00000545145.2	-	24	2950	c.2872C>A	c.(2872-2874)Ctt>Att	p.L958I	RBM19_ENST00000392561.3_Missense_Mutation_p.L958I|RBM19_ENST00000261741.5_Missense_Mutation_p.L958I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	958					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)					CACAGCTGAAGGGTCTGCTCC	0.657																																						.											0													46	40	42					12																	114261040		2203	4300	6503	SO:0001583	missense	9904			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.2872C>A	12.37:g.114261040G>T	ENSP00000442053:p.Leu958Ile		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670262	0.67814	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05786	3.39;3.39;3.39	4.39	4.39	0.52855	.	0.000000	0.43579	D	0.000543	T	0.05318	0.0141	N	0.22421	0.69	0.22479	N	0.999061	B	0.15719	0.014	B	0.15870	0.014	T	0.28396	-1.0045	10	0.52906	T	0.07	-2.5835	11.2472	0.49004	0.0:0.0:0.818:0.182	.	958	Q9Y4C8	RBM19_HUMAN	I	958	ENSP00000442053:L958I;ENSP00000376344:L958I;ENSP00000261741:L958I	ENSP00000261741:L958I	L	-	1	0	RBM19	112745423	1.000000	0.71417	0.974000	0.42286	0.971000	0.66376	3.487000	0.53222	2.281000	0.76405	0.462000	0.41574	CTT		0.657	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114261040	G	T	114261040	3	4	27	1	0	0	0	0	1	0	0	0	13121	1000	35	5	14	5	RBM19	12	114261040	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	64824650	114261040	19590855	32	2023											
FOXO1	2308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	41134356	41134356	+	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	atgctggattggccatatgtAtatttttggtagtttgggct	7	18	12	4	0	0	0	0	0	0	0	0	1	0	1	1	4	1	5	1	4	4	8			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr13:41134356A>T	ENST00000379561.5	-	2	1656	c.1272T>A	c.(1270-1272)taT>taA	p.Y424*	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	424	Required for interaction with RUNX2. {ECO:0000250}.|Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|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 apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|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)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGCCATATGTATATTTTTGGT	0.488																																						.											0													127	115	119					13																	41134356		2203	4300	6503	SO:0001587	stop_gained	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1272T>A	13.37:g.41134356A>T	ENSP00000368880:p.Tyr424*		O43523|Q5VYC7|Q6NSK6	Nonsense_Mutation	SNP	ENST00000379561.5	37	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	A	36	5.891446	0.97074	.	.	ENSG00000150907	ENST00000379561	.	.	.	5.78	-3.28	0.05033	.	0.164042	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8585	14.9205	0.70835	0.6511:0.0:0.3489:0.0	.	.	.	.	X	424	.	ENSP00000368880:Y424X	Y	-	3	2	FOXO1	40032356	0.044000	0.20184	0.032000	0.17829	0.584000	0.36387	-0.617000	0.05584	-0.725000	0.04901	-0.959000	0.02639	TAT		0.488	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		T	41134356	A	T	41134356	4	4	27	1	0	0	0	0	0	1	0	0	6023	456	16	5	699	5	FOXO1	13	41134356	Nonsense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10		41134356	74035522	33	2024											
DZIP1	22873	bcgsc.ca	37	chr13	96293631	96293631	+	Missense_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	gtttgcactcttccttgagcGtcttgatctcccccgcctgc	3	14	8	16	2	3	2	0	2	3	0	5	2	4	2	4	0	3	2	4	0	0	4	rs9561921	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr13:96293631G>A	ENST00000376829.2	-	5	1366	c.515C>T	c.(514-516)aCg>aTg	p.T172M	DZIP1_ENST00000361396.2_Missense_Mutation_p.T172M|DZIP1_ENST00000347108.3_Missense_Mutation_p.T172M|DZIP1_ENST00000361156.3_Missense_Mutation_p.T172M|DZIP1_ENST00000466027.1_5'UTR	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	172			T -> M (in dbSNP:rs9561921).		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)			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)			TTCCTTGAGCGTCTTGATCTC	0.602													G|||	493	0.0984425	0.112	0.0922	5008	,	,		16754	0.1716		0.0656	False		,,,				2504	0.0429					.											0								G	MET/THR,MET/THR	475,3931	223.9+/-240.3	30,415,1758	112	71	85		515,515	3.5	0.1	13	dbSNP_119	85	758,7842	181.3+/-230.0	34,690,3576	yes	missense,missense	DZIP1	NM_014934.3,NM_198968.2	81,81	64,1105,5334	AA,AG,GG		8.814,10.7808,9.4802	benign,benign	172/849,172/868	96293631	1233,11773	2203	4300	6503	SO:0001583	missense	22873			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.515C>T	13.37:g.96293631G>A	ENSP00000366025:p.Thr172Met		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	265	0.12133699633699634	68	0.13821138211382114	43	0.11878453038674033	102	0.17832167832167833	52	0.06860158311345646	G	1.494	-0.553964	0.03996	0.107808	0.08814	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.68	3.49	0.39957	.	1.685550	0.02965	N	0.143627	T	0.00039	0.0001	N	0.02011	-0.69	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.09840	-1.0656	9	0.39692	T	0.17	-7.0E-4	4.2879	0.10863	0.5511:0.1859:0.263:0.0	rs9561921;rs57792076;rs9561921	172;172	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	M	172	ENSP00000257312:T172M;ENSP00000355018:T172M;ENSP00000355175:T172M;ENSP00000366025:T172M	ENSP00000257312:T172M	T	-	2	0	DZIP1	95091632	0.000000	0.05858	0.139000	0.22197	0.002000	0.02628	0.646000	0.24797	0.661000	0.30985	-0.238000	0.12139	ACG		0.602	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		A	96293631	G	A	96293631	3	1	27	1	0	0	0	0	1	0	0	0	4863	1145	40	1	2164	1	DZIP1	13	96293631	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	55159275	96293631	18876247	34	2025											
DDX24	57062	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	94524209	94524209	+	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	gactttaggaatatccagacCccgagctgccacatctgttg	10	10	9	12	1	1	1	0	0	1	1	2	4	2	2	4	1	2	2	4	1	3	4			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr14:94524209C>A	ENST00000330836.5	-	6	2079	c.1948G>T	c.(1948-1950)Ggt>Tgt	p.G650C	DDX24_ENST00000555054.1_Missense_Mutation_p.G607C|DDX24_ENST00000544005.1_Missense_Mutation_p.G400C	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	650	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		ATATCCAGACCCCGAGCTGCC	0.423																																						.											0													56	56	56					14																	94524209		2203	4300	6503	SO:0001583	missense	57062			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.1948G>T	14.37:g.94524209C>A	ENSP00000328690:p.Gly650Cys		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926437	0.92319	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.63417	-0.04;-0.04;-0.04	5.5	5.5	0.81552	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91925	0.5550	10	0.87932	D	0	8.0052	19.7499	0.96263	0.0:1.0:0.0:0.0	.	650	Q9GZR7	DDX24_HUMAN	C	650;400;595;276;607;607	ENSP00000328690:G650C;ENSP00000440623:G400C;ENSP00000452145:G607C	ENSP00000328690:G650C	G	-	1	0	DDX24	93593962	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.818000	0.86416	2.729000	0.93468	0.563000	0.77884	GGT		0.423	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		A	94524209	C	A	94524209	3	1	27	1	0	0	0	0	1	0	0	0	4351	623	22	5	647	5	DDX24	14	94524209	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		94524209	12825331	35	2026											
CSK	1445	broad.mit.edu	37	chr15	75093415	75093415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaggagaagggcgggcTctacatcgtcactgagtaca	10	7	15	9	3	2	2	1	1	1	1	3	4	2	3	0	4	2	2	0	4	3	2			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr15:75093415T>C	ENST00000220003.9	+	9	1514	c.785T>C	c.(784-786)cTc>cCc	p.L262P	CSK_ENST00000439220.2_Missense_Mutation_p.L262P|CSK_ENST00000567571.1_Missense_Mutation_p.L262P|CSK_ENST00000309470.9_Missense_Mutation_p.L262P	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	262	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)	p.L262R(1)		central_nervous_system(1)|lung(2)	3						AAGGGCGGGCTCTACATCGTC	0.642																																						.											1	Substitution - Missense(1)	skin(1)											86	87	86					15																	75093415		2197	4296	6493	SO:0001583	missense	1445				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.785T>C	15.37:g.75093415T>C	ENSP00000220003:p.Leu262Pro		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382491	0.82792	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.38560	1.13;1.13;1.13	5.4	5.4	0.78164	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	0.000004	T	0.50017	0.1591	L	0.33189	0.99	0.80722	D	1	D	0.59357	0.985	D	0.66351	0.943	T	0.52983	-0.8502	10	0.87932	D	0	-20.0374	10.6013	0.45369	0.0:0.0779:0.0:0.9221	.	262	P41240	CSK_HUMAN	P	262;262;211;262	ENSP00000220003:L262P;ENSP00000414764:L262P;ENSP00000438808:L262P	ENSP00000220003:L262P	L	+	2	0	CSK	72880468	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.553000	0.82203	2.043000	0.60533	0.482000	0.46254	CTC		0.642	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		C	75093415	T	C	75093415	3	2	27	1	0	0	0	0	1	0	0	0	3943	1551	54	2	815	2	CSK	15	75093415	Missense_Mutation	SNP	T	TCGA-KM-8440-01A-11D-2310-10		75093415	27437977	36	2027											
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	15695994	15695994	+	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	agtatgaagtaaagaccgcaCattctttgcaaacaaataca	18	9	6	8	1	1	2	0	1	1	1	1	2	1	2	1	0	3	4	1	0	7	5			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr16:15695994C>A	ENST00000396368.3	-	23	4686	c.4480G>T	c.(4480-4482)Gtg>Ttg	p.V1494L	KIAA0430_ENST00000602337.1_Missense_Mutation_p.V1491L|KIAA0430_ENST00000344181.3_Missense_Mutation_p.V1177L|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1494L|KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V1491L|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V1329L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1494	HTH OST-type 8. {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						AAAGACCGCACATTCTTTGCA	0.388																																						.											0													205	206	206					16																	15695994		1888	4121	6009	SO:0001583	missense	9665			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.4480G>T	16.37:g.15695994C>A	ENSP00000379654:p.Val1494Leu		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157561	0.57368	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.69	5.69	0.88448	.	0.063140	0.64402	D	0.000007	T	0.45256	0.1333	L	0.36672	1.1	0.28960	N	0.88988	D;P;P;D	0.71674	0.997;0.88;0.88;0.998	D;B;B;D	0.80764	0.99;0.23;0.23;0.994	T	0.36138	-0.9760	10	0.11485	T	0.65	.	19.816	0.96568	0.0:1.0:0.0:0.0	.	1493;1491;1490;1493	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	L	1494;1329;1434;1177;1491;1494;1355	ENSP00000379654:V1494L;ENSP00000439819:V1329L;ENSP00000341939:V1177L;ENSP00000449376:V1491L;ENSP00000450309:V1494L	ENSP00000315718:V1434L	V	-	1	0	KIAA0430	15603495	1.000000	0.71417	0.985000	0.45067	0.188000	0.23474	4.643000	0.61390	2.687000	0.91594	0.561000	0.74099	GTG		0.388	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15695994	C	A	15695994	3	1	27	1	0	0	0	0	1	0	0	0	8177	478	17	5	768	5	KIAA0430	16	15695994	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		15695994	74658759	37	2028											
COQ7	10229	mdanderson.org;bcgsc.ca	37	chr16	19085298	19085298	+	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	gttcaatgagttgatggttaCgttcagggtccggccaacag	9	11	13	8	2	2	2	2	2	0	0	3	2	3	2	2	3	2	4	2	3	3	4	rs11074359	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr16:19085298C>T	ENST00000321998.5	+	3	374	c.308C>T	c.(307-309)aCg>aTg	p.T103M	COQ7_ENST00000569127.1_Missense_Mutation_p.T80M|COQ7_ENST00000568985.1_Missense_Mutation_p.T103M|COQ7_ENST00000544894.2_Missense_Mutation_p.T65M	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	103	2 X approximate tandem repeats.		T -> M (in dbSNP:rs11074359). {ECO:0000269|PubMed:10373327, ECO:0000269|PubMed:10501970, ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9020081}.		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						TTGATGGTTACGTTCAGGGTC	0.448													C|||	2878	0.574681	0.2655	0.6196	5008	,	,		19214	0.8145		0.6461	False		,,,				2504	0.6401					.											0								C	MET/THR,MET/THR	1489,2905	475.2+/-357.2	229,1031,937	125	104	111		194,308	5.9	0.3	16	dbSNP_120	111	5496,3104	657.7+/-401.5	1773,1950,577	yes	missense,missense	COQ7	NM_001190983.1,NM_016138.4	81,81	2002,2981,1514	TT,TC,CC		36.093,33.8871,46.2444	possibly-damaging,possibly-damaging	65/180,103/218	19085298	6985,6009	2197	4300	6497	SO:0001583	missense	10229			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.308C>T	16.37:g.19085298C>T	ENSP00000322316:p.Thr103Met		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	CCDS10574.1	1329	0.6085164835164835	146	0.2967479674796748	225	0.6215469613259669	473	0.8269230769230769	485	0.6398416886543535	C	18.35	3.605641	0.66445	0.338871	0.63907	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.43688	0.94;0.94	5.91	5.91	0.95273	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.424017	0.29616	N	0.011650	T	0.00012	0.0000	L	0.39898	1.24	0.80722	P	0.0	P	0.47034	0.889	P	0.50109	0.631	T	0.13791	-1.0496	9	0.66056	D	0.02	-4.7588	19.9089	0.97019	0.0:1.0:0.0:0.0	rs11074359;rs17357840;rs60588972;rs11074359	103	Q99807	COQ7_HUMAN	M	103;65	ENSP00000322316:T103M;ENSP00000442923:T65M	ENSP00000322316:T103M	T	+	2	0	COQ7	18992799	0.228000	0.23718	0.328000	0.25416	0.913000	0.54294	3.071000	0.50041	2.793000	0.96121	0.655000	0.94253	ACG		0.448	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		T	19085298	C	T	19085298	3	4	27	1	0	0	0	0	1	0	0	0	3750	536	19	1	318	1	COQ7	16	19085298	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	3389304	19085298	71269455	38	2029											
CES7	221223	bcgsc.ca	37	chr16	55883563	55883563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaatgtcccccttcaggaAggcaccaccgaacacaaagc	15	4	7	15	1	1	0	1	0	0	0	2	2	2	1	4	2	3	1	4	2	5	1			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr16:55883563A>G	ENST00000290567.9	-	11	1517	c.1396T>C	c.(1396-1398)Ttc>Ctc	p.F466L	CES5A_ENST00000520435.1_Missense_Mutation_p.F436L|CES5A_ENST00000521992.1_Missense_Mutation_p.F495L|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.F360L	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	466						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCCTTCAGGAAGGCACCACCG	0.552																																						.											0													190	164	172					16																	55883563		1568	3582	5150	SO:0001583	missense	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1396T>C	16.37:g.55883563A>G	ENSP00000290567:p.Phe466Leu		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.721874	0.48728	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.16	4.07	0.47477	Carboxylesterase, type B (1);	0.594901	0.15246	N	0.272633	T	0.46171	0.1379	N	0.25380	0.74	0.39277	D	0.964483	B	0.19331	0.035	B	0.26202	0.067	T	0.24584	-1.0156	10	0.10111	T	0.7	.	9.7766	0.40623	0.9157:0.0:0.0843:0.0	.	466	Q6NT32	EST5A_HUMAN	L	495;360;466;436;246	ENSP00000428864:F495L;ENSP00000428571:F360L;ENSP00000290567:F466L;ENSP00000428887:F436L	ENSP00000290567:F466L	F	-	1	0	CES5A	54441064	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	0.852000	0.27764	1.046000	0.40249	-0.274000	0.10170	TTC		0.552	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		G	55883563	A	G	55883563	3	3	27	1	0	0	0	0	1	0	0	0	3272	72	3	2	343	2	CES7	16	55883563	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	36798265	55883563	34471190	39	2030											
PKD1L2	114780	hgsc.bcm.edu;bcgsc.ca	37	chr16	81213360	81213360	+	RNA	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	aggaccttggccaaaatcctCtgagtctgcaggcatccagg	10	8	11	12	0	2	1	0	1	2	0	4	2	4	2	4	4	1	2	4	4	2	1			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr16:81213360C>T	ENST00000527937.1	-	0	208				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_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						CCAAAATCCTCTGAGTCTGCA	0.597																																						.											0													61	63	63					16																	81213360		1958	4156	6114			114780			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.81213360C>T			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		.	.	.	.	.	.	.	.	.	.	C	7.712	0.695352	0.15106	.	.	ENSG00000166473	ENST00000531391;ENST00000337114;ENST00000527937	T;T;T	0.69306	2.5;-0.39;2.15	5.02	-3.31	0.04988	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.373740	0.04784	N	0.430403	T	0.52256	0.1723	.	.	.	0.09310	N	1	B;B;B	0.28933	0.103;0.228;0.082	B;B;B	0.28011	0.085;0.083;0.019	T	0.42413	-0.9453	9	0.54805	T	0.06	7.5086	5.859	0.18736	0.0:0.3056:0.3519:0.3425	.	32;717;717	Q7Z442-6;Q7Z442-3;Q7Z442	.;.;PK1L2_HUMAN	K	32;717;32	ENSP00000436309:R32K;ENSP00000337397:R717K;ENSP00000432818:R32K	ENSP00000337397:R717K	R	-	2	0	PKD1L2	79770861	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.213000	0.01224	-1.028000	0.03321	0.462000	0.41574	AGA		0.597	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			T	81213360	C	T	81213360	1	4	27	0	1	0	0	0	0	0	0	0	11965	913	32	4		4	PKD1L2	16	81213360	RNA	SNP	C	TCGA-KM-8440-01A-11D-2310-10	25329797	81213360	9141393	40	2031											
GLP2R	9340	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr17	9763353	9763353	+	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	tgaaggcctctacctccacaCgctgctggagcccacagtgc	8	7	10	16	1	1	1	0	1	1	0	2	2	2	2	4	2	4	2	4	2	2	1	rs145296340		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:9763353C>T	ENST00000262441.5	+	7	1373	c.860C>T	c.(859-861)aCg>aTg	p.T287M	GLP2R_ENST00000574745.1_Missense_Mutation_p.T107M	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	287					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TACCTCCACACGCTGCTGGAG	0.577													C|||	1	0.000199681	0	0	5008	,	,		14640	0		0.001	False		,,,				2504	0					.											0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	81	70	74		860	3.2	0	17	dbSNP_134	74	17,8583	11.9+/-42.8	0,17,4283	yes	missense	GLP2R	NM_004246.1	81	0,18,6485	TT,TC,CC		0.1977,0.0227,0.1384	possibly-damaging	287/554	9763353	18,12988	2203	4300	6503	SO:0001583	missense	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.860C>T	17.37:g.9763353C>T	ENSP00000262441:p.Thr287Met		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	2.108|2.108	-0.404495|-0.404495	0.04832|0.04832	2.27E-4|2.27E-4	0.001977|0.001977	ENSG00000065325|ENSG00000065325	ENST00000458005|ENST00000396206;ENST00000304773;ENST00000262441	.|T	.|0.36699	.|1.24	5.34|5.34	3.25|3.25	0.37280|0.37280	.|GPCR, family 2-like (1);	.|1.422570	.|0.05107	.|N	.|0.488161	T|T	0.50274|0.50274	0.1606|0.1606	L|L	0.56124|0.56124	1.755|1.755	0.09310|0.09310	N|N	1|1	.|P	.|0.43412	.|0.806	.|P	.|0.48770	.|0.589	T|T	0.52328|0.52328	-0.8590|-0.8590	5|10	.|0.87932	.|D	.|0	.|.	14.9932|14.9932	0.71406|0.71406	0.0:0.5598:0.4402:0.0|0.0:0.5598:0.4402:0.0	.|.	.|287	.|O95838	.|GLP2R_HUMAN	C|M	140|287;262;287	.|ENSP00000262441:T287M	.|ENSP00000262441:T287M	R|T	+|+	1|2	0|0	GLP2R|GLP2R	9704078|9704078	0.026000|0.026000	0.19158|0.19158	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	0.682000|0.682000	0.25335|0.25335	0.657000|0.657000	0.30906|0.30906	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.577	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			T	9763353	C	T	9763353	3	4	27	1	0	0	0	0	1	0	0	0	6453	536	19	1	886	1	GLP2R	17	9763353	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		9763353	71431857	41	2032											
KCNJ12	3768	hgsc.bcm.edu	37	chr17	21318691	21318692	+	Frame_Shift_Del	DEL	GT	GT	-																															gggccaacccctacagcatcGtgtcatcggaggaggacggg																								rs556074330	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:21318691_21318692delGT	ENST00000583088.1	+	3	932_933	c.37_38delGT	c.(37-39)gtgfs	p.V13fs	KCNJ12_ENST00000331718.5_Frame_Shift_Del_p.V13fs	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	13					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)	CTACAGCATCGTGTCATCGGAG	0.708										Prostate(3;0.18)				24	0.00479233	0.0174	0.0014	5008	,	,		32853	0		0	False		,,,				2504	0					.											0																																										SO:0001589	frameshift_variant	100134444			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.37_38delGT	17.37:g.21318693_21318694delGT	ENSP00000463778:p.Val13fs		O43401|Q15756|Q8NG63	Frame_Shift_Del	DEL	ENST00000583088.1	37	CCDS11219.1																																																																																				0.708	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		-	21318692	GT	-	21318691	7	5	27	1	0	1	0	1	0	0	0	0	8046	1145	40	0	39	0	KCNJ12	17	21318691	Frame_Shift_Del	DEL	GT	TCGA-KM-8440-01A-11D-2310-10	11555338	21318691	59876519	42	2033											
HEXIM1	10614	ucsc.edu	37	chr17	43226939	43226939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcatgactccgaggccAgtaagttgggggctcctgcc	6	10	13	12	1	1	1	1	1	0	0	3	2	3	1	4	3	1	3	4	3	1	3			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:43226939A>G	ENST00000332499.2	+	1	2256	c.382A>G	c.(382-384)Agt>Ggt	p.S128G	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	128					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						CTCCGAGGCCAGTAAGTTGGG	0.652											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													9	12	11					17																	43226939		2179	4275	6454	SO:0001583	missense	10614			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.382A>G	17.37:g.43226939A>G	ENSP00000328773:p.Ser128Gly	914	B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	A	9.214	1.031790	0.19590	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.33	0.526	0.17078	.	0.614097	0.13321	U	0.396724	T	0.14874	0.0359	N	0.08118	0	0.22803	N	0.998716	B	0.02656	0.0	B	0.01281	0.0	T	0.22626	-1.0211	9	0.23302	T	0.38	-5.1148	4.2217	0.10561	0.4485:0.429:0.1225:0.0	.	128	O94992	HEXI1_HUMAN	G	128	.	ENSP00000328773:S128G	S	+	1	0	HEXIM1	40582722	0.900000	0.30661	0.829000	0.32907	0.695000	0.40330	1.409000	0.34680	0.189000	0.20188	0.459000	0.35465	AGT		0.652	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		G	43226939	A	G	43226939	3	3	27	1	0	0	0	0	1	0	0	0	7076	188	7	2	384	2	HEXIM1	17	43226939	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	21908248	43226939	37968271	43	2034											
TSEN54	283989	mdanderson.org	37	chr17	73518328	73518328	+	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	ggagctgctgcagcggcggcAggtgcagaggagccagcgcc	7	3	19	12	3	0	1	0	0	0	1	0	3	0	3	2	5	7	5	2	5	0	0	rs77247739	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:73518328A>C	ENST00000333213.6	+	8	1202	c.1166A>C	c.(1165-1167)cAg>cCg	p.Q389P		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	389					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	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)			CAGCGGCGGCAGGTGCAGAGG	0.716													A|||	354	0.0706869	0.0976	0.0648	5008	,	,		13683	0		0.0984	False		,,,				2504	0.0828					.											0								A	PRO/GLN	290,3664		11,268,1698	5	5	5		1166	-0.1	0	17	dbSNP_131	5	522,7188		9,504,3342	no	missense	TSEN54	NM_207346.2	76	20,772,5040	CC,CA,AA		6.7704,7.3343,6.9616	benign	389/527	73518328	812,10852	1977	3855	5832	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1166A>C	17.37:g.73518328A>C	ENSP00000327487:p.Gln389Pro		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	162	0.07417582417582418	55	0.11178861788617886	36	0.09944751381215469	0	0.0	71	0.09366754617414248	A	3.847	-0.032674	0.07543	0.073343	0.067704	ENSG00000182173	ENST00000333213	T	0.58060	0.36	5.47	-0.0634	0.13777	.	0.913377	0.09679	N	0.770042	T	0.00936	0.0031	L	0.43152	1.355	0.80722	P	0.0	B	0.25609	0.13	B	0.22601	0.04	T	0.12528	-1.0544	9	0.33141	T	0.24	-2.0841	9.9457	0.41607	0.3984:0.0:0.6016:0.0	.	389	Q7Z6J9	SEN54_HUMAN	P	389	ENSP00000327487:Q389P	ENSP00000327487:Q389P	Q	+	2	0	TSEN54	71029923	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.306000	0.19279	0.036000	0.15547	0.533000	0.62120	CAG		0.716	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		C	73518328	A	C	73518328	3	2	27	1	0	0	0	0	1	0	0	0	16611	188	7	5	1196	5	TSEN54	17	73518328	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10	30291389	73518328	7676882	44	2035											
DNAH17	8632	bcgsc.ca	37	chr17	76455172	76455172	+	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	tgcctgcctcttgggcgccaCgtcgcagtagacctcgtaga	6	9	12	14	4	1	2	0	0	1	2	3	2	1	2	4	1	2	3	4	1	2	3			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr17:76455172C>T	ENST00000585328.1	-	61	9881	c.9757G>A	c.(9757-9759)Gtg>Atg	p.V3253M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V3244M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3244	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)			TTGGGCGCCACGTCGCAGTAG	0.612																																						.											0													142	140	141					17																	76455172		2203	4300	6503	SO:0001583	missense	8632			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.9757G>A	17.37:g.76455172C>T	ENSP00000465516:p.Val3253Met		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.597316	0.87055	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80566	-1.39	5.35	5.35	0.76521	.	0.221905	0.31612	N	0.007342	D	0.94430	0.8208	H	0.99042	4.41	0.38273	D	0.942201	D	0.89917	1.0	D	0.97110	1.0	D	0.97749	1.0213	10	0.87932	D	0	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	3253	E7EUM8	.	M	3253;3244	ENSP00000374490:V3244M	ENSP00000300671:V3253M	V	-	1	0	DNAH17	73966767	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.254000	0.78329	2.491000	0.84063	0.655000	0.94253	GTG		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76455172	C	T	76455172	3	4	27	1	0	0	0	0	1	0	0	0	4601	536	19	1	3700	1	DNAH17	17	76455172	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	2936844	76455172	4740038	45	2036											
PIK3C3	5289	mdanderson.org;bcgsc.ca	37	chr18	39607490	39607490	+	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	gtacttgaacgtaatgagaaGattcagccaagcattgttga	14	11	10	6	1	1	4	1	3	0	2	1	5	1	4	1	0	4	4	1	0	5	6			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr18:39607490G>T	ENST00000262039.4	+	14	1654	c.1568G>T	c.(1567-1569)aGa>aTa	p.R523I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R8I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R460I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	523					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTAATGAGAAGATTCAGCCAA	0.423										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	.											0													119	97	104					18																	39607490		2203	4300	6503	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1568G>T	18.37:g.39607490G>T	ENSP00000262039:p.Arg523Ile		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570993	0.65765	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.66099	-0.19;0.2	5.73	5.73	0.89815	Phosphoinositide 3-kinase, accessory (PIK) domain (1);	0.166870	0.52532	D	0.000076	T	0.64114	0.2569	M	0.64567	1.98	0.80722	D	1	B;B	0.26547	0.152;0.039	B;B	0.32928	0.155;0.065	T	0.58853	-0.7563	9	.	.	.	.	18.1556	0.89689	0.0:0.0:1.0:0.0	.	460;523	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	I	523;460	ENSP00000262039:R523I;ENSP00000381845:R460I	.	R	+	2	0	PIK3C3	37861488	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.723000	0.98772	2.724000	0.93272	0.586000	0.80456	AGA		0.423	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		T	39607490	G	T	39607490	3	4	27	1	0	0	0	0	1	0	0	0	11912	942	33	5	1622	5	PIK3C3	18	39607490	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10		39607490	38469758	46	2037											
SIRT6	51548	mdanderson.org	37	chr19	4174859	4174859	+	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	cacacgggggccgtcccaggCggggatctccagccccaggt	6	4	15	16	3	1	0	0	0	1	0	3	1	2	1	5	6	1	0	5	6	0	0	rs74317014	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:4174859C>T	ENST00000337491.2	-	8	887	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SIRT6_ENST00000381935.3_Missense_Mutation_p.A203T|SIRT6_ENST00000601488.1_3'UTR|SIRT6_ENST00000594279.1_3'UTR|SIRT6_ENST00000305232.6_Missense_Mutation_p.A248T	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	275					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)		CCGTCCCAGGCGGGGATCTCC	0.697													C|||	70	0.0139776	0.0492	0.0072	5008	,	,		6715	0		0	False		,,,				2504	0					.											0								C	THR/ALA,THR/ALA	133,4099		1,131,1984	15	13	14		742,823	-0.8	0.7	19	dbSNP_131	14	2,8254		0,2,4126	yes	missense,missense	SIRT6	NM_001193285.1,NM_016539.2	58,58	1,133,6110	TT,TC,CC		0.0242,3.1427,1.081	benign,benign	248/329,275/356	4174859	135,12353	2116	4128	6244	SO:0001583	missense	51548			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.823G>A	19.37:g.4174859C>T	ENSP00000337332:p.Ala275Thr		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	CCDS12122.1	26	0.011904761904761904	24	0.04878048780487805	2	0.0055248618784530384	0	0.0	0	0.0	C	10.99	1.507377	0.27036	0.031427	2.42E-4	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.16897	2.31;2.31;2.31	4.28	-0.788	0.10939	.	0.510295	0.21114	N	0.079938	T	0.01092	0.0036	N	0.17723	0.515	0.26940	N	0.966267	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.34775	-0.9815	10	0.18276	T	0.48	-23.0487	5.7039	0.17897	0.0:0.6019:0.1408:0.2573	.	248;275	Q8N6T7-2;Q8N6T7	.;SIRT6_HUMAN	T	275;248;203	ENSP00000337332:A275T;ENSP00000305310:A248T;ENSP00000371360:A203T	ENSP00000305310:A248T	A	-	1	0	SIRT6	4125859	0.000000	0.05858	0.749000	0.31150	0.888000	0.51559	-0.184000	0.09698	-0.344000	0.08338	0.462000	0.41574	GCC		0.697	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			T	4174859	C	T	4174859	3	4	27	1	0	0	0	0	1	0	0	0	14342	768	27	1	248	1	SIRT6	19	4174859	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		4174859	54954124	47	2038											
CACNA1A	773	mdanderson.org	37	chr19	13319693	13319693	+	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	tccttgtcggggggcgggggAtggtggtggtggtggtggtg	1	11	25	4	2	0	0	0	0	0	0	2	1	1	1	1	11	0	0	1	11	0	1	rs16051	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:13319693A>G	ENST00000360228.5	-	46	6656	c.6657T>C	c.(6655-6657)caT>caC	p.H2219H	CACNA1A_ENST00000573710.2_Silent_p.H2220H	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	2220	Poly-His.				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)	GGGGCGGGGGAtggtggtggt	0.731													g|||	3440	0.686901	0.7874	0.6081	5008	,	,		6615	0.7897		0.6252	False		,,,				2504	0.5644					.											0									,,,,	2283,905		898,487,209	3	4	3		6675,6660,6657,6666,6675		1	19	dbSNP_54	3	3993,3127		1321,1351,888	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2219,1838,1097	GG,GA,AA		43.9185,28.3877,39.1153	,,,,	2225/2267,2220/2262,2219/2507,2222/2264,2225/2513	13319693	6276,4032	1594	3560	5154	SO:0001819	synonymous_variant	773			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.6657T>C	19.37:g.13319693A>G			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13319693	A	G	13319693	2	3	27	1	0	0	0	0	0	0	0	1	2538	330	12	4		4	CACNA1A	19	13319693	Silent	SNP	A	TCGA-KM-8440-01A-11D-2310-10	9144834	13319693	45809290	48	2039											
CLEC17A	388512	broad.mit.edu	37	chr19	14710546	14710548	+	In_Frame_Del	DEL	CTA	CTA	-																															cagtgactggcatggcagggCtagctggcctgaagcatgac																										TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:14710546_14710548delCTA	ENST00000417570.1	+	11	702_704	c.664_666delCTA	c.(664-666)ctadel	p.L222del	CLEC17A_ENST00000547437.1_In_Frame_Del_p.L222del|CLEC17A_ENST00000397439.2_In_Frame_Del_p.L205del	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	222						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CATGGCAGGGCTAGCTGGCCTGA	0.547																																						.											0																																										SO:0001651	inframe_deletion	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.664_666delCTA	19.37:g.14710546_14710548delCTA	ENSP00000393719:p.Leu222del		A8MX68|B2RTX0|B7ZMM4	In_Frame_Del	DEL	ENST00000417570.1	37	CCDS56087.1																																																																																				0.547	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		-	14710548	CTA	-	14710546	7	5	27	1	0	1	0	1	0	0	0	0	3501	796	28	0	651	0	CLEC17A	19	14710546	In_Frame_Del	DEL	CTA	TCGA-KM-8440-01A-11D-2310-10	1390853	14710546	44418437	49	2040											
MRPS12	6183	bcgsc.ca	37	chr19	39423174	39423175	+	Frame_Shift_Ins	INS	-	-	GGCTCAGCACTGGCCGCGA																															cgcaagtgctgtcgagtgcgINSgctcagcactggccgcgagg																								rs35977895	byFrequency	TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:39423174_39423175insGGCTCAGCACTGGCCGCGA	ENST00000407800.2	+	2	592_593	c.251_252insGGCTCAGCACTGGCCGCGA	c.(250-255)cggctcfs	p.L85fs	SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000430193.3_5'Flank|SARS2_ENST00000221431.6_5'Flank|MRPS12_ENST00000402029.3_Frame_Shift_Ins_p.L85fs|CTC-360G5.9_ENST00000599320.1_lincRNA|SARS2_ENST00000600042.1_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Frame_Shift_Ins_p.L85fs|SARS2_ENST00000448145.2_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	85					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2	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)			TGTCGAGTGCGGCTCAGCACTG	0.663																																						.											0																																										SO:0001589	frameshift_variant	6183			Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"Mitochondrial ribosomal proteins / small subunits"	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		Exception_encountered	19.37:g.39423174_39423175insGGCTCAGCACTGGCCGCGA	ENSP00000384952:p.Leu85fs		Q53X98	Frame_Shift_Ins	INS	ENST00000407800.2	37	CCDS12525.1																																																																																				0.663	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1			GGCTCAGCACTGGCCGCGA	39423175	-	GGCTCAGCACTGGCCGCGA	39423174	7	5	27	1	0	1	1	0	0	0	0	0	9823	1116	39	0	257	0	MRPS12	19	39423174	Frame_Shift_Ins	INS	-	TCGA-KM-8440-01A-11D-2310-10	24712628	39423174	19705809	50	2041											
LIPE	3991	mdanderson.org	37	chr19	42905986	42905986	+	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	agtgtcgccccccgcagcccCcgtctacccccgcagccccc	4	4	8	25	4	1	0	0	0	1	0	2	0	1	0	9	0	3	2	9	0	1	1			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:42905986C>A	ENST00000244289.4	-	10	3485	c.3209G>T	c.(3208-3210)gGg>gTg	p.G1070V	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	1070					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)				CCCGCAGCCCCCGTCTACCCC	0.736																																						.											0													2	3	2					19																	42905986		1240	2515	3755	SO:0001583	missense	3991			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.3209G>T	19.37:g.42905986C>A	ENSP00000244289:p.Gly1070Val		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522287	0.27211	.	.	ENSG00000079435	ENST00000244289	T	0.04317	3.65	3.11	2.05	0.26809	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.18873	N	0.999986	P	0.52316	0.952	P	0.49140	0.601	T	0.45775	-0.9238	9	0.32370	T	0.25	.	5.9892	0.19452	0.0:0.7376:0.0:0.2624	.	1070	Q05469	LIPS_HUMAN	V	1070	ENSP00000244289:G1070V	ENSP00000244289:G1070V	G	-	2	0	LIPE	47597826	0.000000	0.05858	0.081000	0.20488	0.198000	0.23893	-0.333000	0.07894	0.595000	0.29777	-0.480000	0.04831	GGG		0.736	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		A	42905986	C	A	42905986	3	1	27	1	0	0	0	0	1	0	0	0	8821	623	22	5	25	5	LIPE	19	42905986	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	3482812	42905986	16222997	51	2042											
KPTN	11133	broad.mit.edu	37	chr19	47987306	47987307	+	Frame_Shift_Ins	INS	-	-	C																															gcggccagcagctccccgcgINScccgccggcgccgcctgcca																								rs540521125		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr19:47987306_47987307insC	ENST00000338134.3	-	1	218_219	c.111_112insG	c.(109-114)gggcgcfs	p.R38fs	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	38					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGCTccccgcgcccgccggcgc	0.683											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001589	frameshift_variant	11133			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"kaptin (actin-binding protein)"			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.112dupG	19.37:g.47987309_47987309dupC	ENSP00000337850:p.Arg38fs	951	B3KN86|B4DQ76|Q96GT1	Frame_Shift_Ins	INS	ENST00000338134.3	37	CCDS42583.1																																																																																				0.683	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			C	47987307	-	C	47987306	7	5	27	1	0	1	1	0	0	0	0	0	8437	1087	38	0	1246	0	KPTN	19	47987306	Frame_Shift_Ins	INS	-	TCGA-KM-8440-01A-11D-2310-10	5081320	47987306	11141677	52	2043											
DEFB132	400830	ucsc.edu	37	chr20	238441	238441	+	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	tgaagttcctgctcctggtcTtggcagccctcggattcctg	4	13	11	13	1	1	1	0	1	1	0	5	2	4	2	4	3	2	3	4	3	1	3	rs66489228|rs398088193|rs371825938|rs74636637		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr20:238441T>C	ENST00000382376.3	+	1	65	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	8					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCTCCTGGTCTTGGCAGCCCT	0.527																																						.											0													60	54	56					20																	238441		1843	3522	5365	SO:0001819	synonymous_variant	400830			AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"Defensins, beta"	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.22T>C	20.37:g.238441T>C			B2RP72|Q4QY40	Silent	SNP	ENST00000382376.3	37	CCDS12993.1																																																																																				0.527	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101365.1	NM_207469		C	238441	T	C	238441	2	2	27	1	0	0	0	0	0	0	0	1	4417	1606	56	2		2	DEFB132	20	238441	Silent	SNP	T	TCGA-KM-8440-01A-11D-2310-10		238441	62787079	53	2044											
SIRPB1	10326	mdanderson.org	37	chr20	1592120	1592120	+	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	tggggtgatgttactgatgcGgatggaaaagtccatgttgt	9	13	15	4	1	0	2	0	2	0	0	1	4	1	4	1	4	2	2	1	4	3	2	rs1135201		TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr20:1592120G>T	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.R106S|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.R106S	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTACTGATGCGGATGGAAAAG	0.512																																						.											0													105	121	117					20																	1592120		448	1337	1785	SO:0001627	intron_variant	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8394C>A	20.37:g.1592120G>T			A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	560	0.2564102564102564	150	0.3048780487804878	74	0.20441988950276244	183	0.31993006993006995	153	0.20184696569920843	.	2.402	-0.337253	0.05278	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.65364	-0.15	2.65	-2.79	0.05841	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.52266	1.64	0.34870	D	0.743495	B	0.31435	0.323	B	0.31869	0.137	T	0.37753	-0.9692	9	0.37606	T	0.19	.	4.2858	0.10855	0.1304:0.0:0.2968:0.5727	rs1135201;rs3197735	106	Q5TFQ8	SIRBL_HUMAN	S	106	ENSP00000279477:R106S	ENSP00000279477:R106S	R	-	1	0	SIRPB1	1540120	0.081000	0.21417	0.142000	0.22268	0.020000	0.10135	0.000000	0.12993	-0.294000	0.08973	-2.062000	0.00397	CGC		0.512	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1592120	G	T	1592120	1	4	27	0	1	0	0	0	0	0	0	0	14333	1116	39	5		5	SIRPB1	20	1592120	Intron	SNP	G	TCGA-KM-8440-01A-11D-2310-10	1353679	1592120	61433400	54	2045											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr21	42080523	42080523	+	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	tgccgttggggtggacgtggCggatcccggggacatcgtag	5	8	19	9	5	0	0	0	0	0	0	2	3	1	3	2	7	1	2	2	7	1	2			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr21:42080523C>T	ENST00000400454.1	-	2	695	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	73	Ig-like C2-type 1.				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)		p.R73L(1)		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)				GTGGACGTGGCGGATCCCGGG	0.547																																					Melanoma(134;970 1778 1785 21664 32388)	.											1	Substitution - Missense(1)	lung(1)											92	95	94					21																	42080523		1965	4156	6121	SO:0001583	missense	1826			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.218G>A	21.37:g.42080523C>T	ENSP00000383303:p.Arg73His		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998174	0.93227	.	.	ENSG00000171587	ENST00000400454	T	0.38887	1.11	5.1	5.1	0.69264	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.64404	1.975	0.51767	D	0.999936	D	0.76494	0.999	D	0.80764	0.994	T	0.64918	-0.6294	10	0.66056	D	0.02	.	17.0669	0.86561	0.0:1.0:0.0:0.0	.	73	O60469	DSCAM_HUMAN	H	73	ENSP00000383303:R73H	ENSP00000383303:R73H	R	-	2	0	DSCAM	41002393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.354000	0.79424	2.547000	0.85894	0.585000	0.79938	CGC		0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		T	42080523	C	T	42080523	3	4	27	1	0	0	0	0	1	0	0	0	4768	768	27	1	5948	1	DSCAM	21	42080523	Missense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10		42080523	6049372	55	2046											
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-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	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																																						.											0								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			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			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	27	1	0	0	0	0	1	0	0	0	8506	1145	40	1	702	1	KRTAP10-10	21	46058034	Missense_Mutation	SNP	G	TCGA-KM-8440-01A-11D-2310-10	3977511	46058034	2071861	56	2047											
CLTCL1	8218	broad.mit.edu;bcgsc.ca	37	chr22	19203748	19203748	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggatcccgtgtttctgAcaatgctgtctgtaccacct	7	14	8	12	1	3	1	1	1	2	0	4	2	4	2	3	1	2	3	3	1	2	3			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr22:19203748A>G	ENST00000263200.10	-	19	3010	c.2938T>C	c.(2938-2940)Tca>Cca	p.S980P	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S980P|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S980P	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	980	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CGTGTTTCTGACAATGCTGTC	0.408			T	?	ALCL																																	.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													90	86	88					22																	19203748		1866	4109	5975	SO:0001583	missense	8218				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.2938T>C	22.37:g.19203748A>G	ENSP00000445677:p.Ser980Pro		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	A	0.617	-0.822774	0.02755	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.18657	2.2;2.2;2.2	3.4	2.35	0.29111	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.095551	0.44902	N	0.000401	T	0.08088	0.0202	N	0.04275	-0.24	0.58432	D	0.999999	B;B	0.13145	0.002;0.007	B;B	0.28638	0.022;0.092	T	0.27606	-1.0069	10	0.02654	T	1	-1.3257	8.3632	0.32372	0.9031:0.0:0.0969:0.0	.	980;980	P53675-2;P53675	.;CLH2_HUMAN	P	980	ENSP00000439662:S980P;ENSP00000445677:S980P;ENSP00000441158:S980P	ENSP00000445677:S980P	S	-	1	0	CLTCL1	17583748	1.000000	0.71417	0.988000	0.46212	0.591000	0.36615	3.759000	0.55227	0.495000	0.27882	0.460000	0.39030	TCA		0.408	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		G	19203748	A	G	19203748	3	3	27	1	0	0	0	0	1	0	0	0	3567	275	10	2	2040	2	CLTCL1	22	19203748	Missense_Mutation	SNP	A	TCGA-KM-8440-01A-11D-2310-10		19203748	32100818	57	2048											
SCARF2	91179	broad.mit.edu	37	chr22	20791941	20791943	+	In_Frame_Del	DEL	AGC	AGC	-																															cggtgtccggcagcatccagAgcagcagcagcagcagcagc																										TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	AGC	AGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr22:20791941_20791943delAGC	ENST00000266214.5	-	1	203_205	c.99_101delGCT	c.(97-102)ctgctc>ctc	p.33_34LL>L	SCARF2_ENST00000405555.3_In_Frame_Del_p.33_34LL>L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	33					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)			CAGCATCCAGagcagcagcagca	0.778																																						.											0									,	41,2921		6,29,1446					,	2.4	1			4	128,6158		10,108,3025	no	coding,coding	SCARF2	NM_182895.2,NM_153334.4	,	16,137,4471	A1A1,A1R,RR		2.0363,1.3842,1.8274	,	,		169,9079				SO:0001651	inframe_deletion	91179			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.99_101delGCT	22.37:g.20791950_20791952delAGC	ENSP00000266214:p.Leu34del		E5RFB8|Q58A83|Q8IXF3|Q9BW74	In_Frame_Del	DEL	ENST00000266214.5	37	CCDS13779.1																																																																																				0.778	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			-	20791943	AGC	-	20791941	7	5	27	1	0	1	0	1	0	0	0	0	13884	304	11	0	2555	0	SCARF2	22	20791941	In_Frame_Del	DEL	AGC	TCGA-KM-8440-01A-11D-2310-10	1588193	20791941	30512625	58	2049											
PKDREJ	10343	broad.mit.edu	37	chr22	46653502	46653502	+	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	gcccatgtcttctcatccagCcaattgctttcttgaagttc	7	15	6	13	0	3	1	1	1	3	0	6	1	4	1	3	0	2	2	3	0	2	5			TCGA-KM-8440-01A-11D-2310-10	TCGA-KM-8440-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	cdf313c8-59f9-41c6-9bd2-f47cb4287da5	f6d8bf61-9da3-4ce4-b6cc-e1391c0c0186	g.chr22:46653502C>T	ENST00000253255.5	-	1	5717	c.5718G>A	c.(5716-5718)tgG>tgA	p.W1906*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1906					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)		TCTCATCCAGCCAATTGCTTT	0.393																																						.											0													109	115	113					22																	46653502		2203	4300	6503	SO:0001587	stop_gained	10343			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.5718G>A	22.37:g.46653502C>T	ENSP00000253255:p.Trp1906*		B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	45	11.351184	0.99550	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1151	16.215	0.82206	0.0:1.0:0.0:0.0	.	.	.	.	X	1906	.	ENSP00000253255:W1906X	W	-	3	0	PKDREJ	45032166	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.876000	0.63079	2.618000	0.88619	0.455000	0.32223	TGG		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		T	46653502	C	T	46653502	4	4	27	1	0	0	0	0	0	1	0	0	11970	740	26	3	1047	3	PKDREJ	22	46653502	Nonsense_Mutation	SNP	C	TCGA-KM-8440-01A-11D-2310-10	25861561	46653502	4651064	59	2050											
MEGF6	1953	mdanderson.org	37	chr1	3413868	3413868	+	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	tgacgtggtggcaggcagcgCcaggcgggcagctgcagcgc	6	4	19	12	4	0	1	0	1	0	0	0	1	0	1	1	5	4	5	1	5	0	0	rs4648506	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:3413868C>G	ENST00000356575.4	-	27	3636	c.3410G>C	c.(3409-3411)gGc>gCc	p.G1137A	MEGF6_ENST00000294599.4_Missense_Mutation_p.G946A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1137	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> A (in dbSNP:rs4648506). {ECO:0000269|PubMed:9693030}.			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)		GCAGGCAGCGCCAGGCGGGCA	0.716													C|||	1222	0.24401	0.146	0.3357	5008	,	,		12528	0.1865		0.3201	False		,,,				2504	0.2924				Ovarian(73;978 3658)	.											0								C	ALA/GLY	547,3569		48,451,1559	8	13	11		3410	0.1	0	1	dbSNP_111	11	2204,6092		339,1526,2283	no	missense	MEGF6	NM_001409.3	60	387,1977,3842	GG,GC,CC		26.567,13.2896,22.164	possibly-damaging	1137/1542	3413868	2751,9661	2058	4148	6206	SO:0001583	missense	1953			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.3410G>C	1.37:g.3413868C>G	ENSP00000348982:p.Gly1137Ala		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	532	0.24358974358974358	83	0.16869918699186992	101	0.27900552486187846	130	0.22727272727272727	218	0.287598944591029	C	12.32	1.903437	0.33628	0.132896	0.26567	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.71934	-0.09;-0.61	4.36	0.0897	0.14460	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.182174	0.48286	N	0.000200	T	0.00012	0.0000	M	0.91663	3.23	0.40306	P	0.021338999999999997	P;P	0.51147	0.942;0.929	P;P	0.62435	0.902;0.841	T	0.05022	-1.0911	9	0.62326	D	0.03	-7.763	6.2955	0.21083	0.0:0.6314:0.1331:0.2355	rs4648506	1137;946	O75095;O75095-2	MEGF6_HUMAN;.	A	946;1137	ENSP00000294599:G946A;ENSP00000348982:G1137A	ENSP00000294599:G946A	G	-	2	0	MEGF6	3403728	0.002000	0.14202	0.000000	0.03702	0.135000	0.20990	0.253000	0.18296	-0.064000	0.13043	0.561000	0.74099	GGC		0.716	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3413868	C	G	3413868	3	3	28	1	0	0	0	0	1	0	0	0	9462	739	26	5	1259	5	MEGF6	1	3413868	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		3413868	245836753	1	2051											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	11187847	11187847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggatggccactcggAtcagctcctcgctcacctga	8	7	11	15	2	2	2	2	1	0	1	5	4	3	4	4	3	1	2	4	3	0	0			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:11187847A>G	ENST00000361445.4	-	44	6126	c.6050T>C	c.(6049-6051)aTc>aCc	p.I2017T	MTOR_ENST00000376838.1_Missense_Mutation_p.I222T	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2017	Sufficient for interaction with the FKBP1A/rapamycin complex. {ECO:0000250}.				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)	GGCCACTCGGATCAGCTCCTC	0.498																																						.											0													155	161	159					1																	11187847		2203	4300	6503	SO:0001583	missense	2475			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.6050T>C	1.37:g.11187847A>G	ENSP00000354558:p.Ile2017Thr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480085	0.84747	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.12039	2.91;2.72	5.8	5.8	0.92144	FKBP12-rapamycin-associated protein, FKBP12-rapamycin-binding (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63368	-0.6653	10	0.87932	D	0	-10.5918	16.1549	0.81657	1.0:0.0:0.0:0.0	.	2017	P42345	MTOR_HUMAN	T	2017;222	ENSP00000354558:I2017T;ENSP00000366034:I222T	ENSP00000354558:I2017T	I	-	2	0	MTOR	11110434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.209000	0.71365	0.533000	0.62120	ATC		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11187847	A	G	11187847	3	3	28	1	0	0	0	0	1	0	0	0	9954	333	12	4	1659	4	MTOR	1	11187847	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10	7773979	11187847	238062774	2	2052											
FOXJ3	22887	hgsc.bcm.edu	37	chr1	42693588	42693588	+	Missense_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	gtgccctcttctttggccgaGtaggcagcacatcttccttc	5	13	9	14	1	3	0	0	0	3	0	5	1	4	0	3	2	2	3	3	2	1	5			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:42693588G>A	ENST00000372572.1	-	7	805	c.494C>T	c.(493-495)aCt>aTt	p.T165I	FOXJ3_ENST00000361776.1_Missense_Mutation_p.T165I|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T165I|FOXJ3_ENST00000372573.1_Missense_Mutation_p.T165I|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T165I	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	165					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)				CTTTGGCCGAGTAGGCAGCAC	0.383																																						.											0													107	97	100					1																	42693588		2203	4300	6503	SO:0001583	missense	22887			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.494C>T	1.37:g.42693588G>A	ENSP00000361653:p.Thr165Ile		A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644135	0.67244	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.68	5.68	0.88126	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.121361	0.52532	D	0.000065	D	0.93621	0.7963	L	0.34521	1.04	0.54753	D	0.999985	B;P	0.35363	0.018;0.497	B;B	0.42188	0.053;0.379	D	0.92467	0.5982	10	0.36615	T	0.2	.	17.2843	0.87137	0.0:0.0:1.0:0.0	.	165;165	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	I	165	ENSP00000361654:T165I;ENSP00000361653:T165I;ENSP00000354620:T165I;ENSP00000354449:T165I;ENSP00000439044:T165I;ENSP00000393408:T165I	ENSP00000354620:T165I	T	-	2	0	FOXJ3	42466175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.932000	0.70121	2.666000	0.90696	0.655000	0.94253	ACT		0.383	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42693588	G	A	42693588	3	1	28	1	0	0	0	0	1	0	0	0	6013	1029	36	4	1410	4	FOXJ3	1	42693588	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	31505741	42693588	206557033	3	2053											
STIL	6491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	47717422	47717422	+	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	acaattattttggttcgatcGagtgacagacagttgtgaca	12	13	10	6	2	0	3	0	2	0	1	2	5	0	3	0	1	0	2	0	1	2	5			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:47717422G>A	ENST00000360380.3	-	18	3613	c.3250C>T	c.(3250-3252)Cga>Tga	p.R1084*	STIL_ENST00000371877.3_Nonsense_Mutation_p.R1085*|STIL_ENST00000243182.6_Nonsense_Mutation_p.R1084*|STIL_ENST00000337817.5_Nonsense_Mutation_p.R1084*|STIL_ENST00000396221.2_Nonsense_Mutation_p.R1067*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1084					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGGTTCGATCGAGTGACAGAC	0.408																																						.											0													145	149	147					1																	47717422		2203	4300	6503	SO:0001587	stop_gained	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3250C>T	1.37:g.47717422G>A	ENSP00000353544:p.Arg1084*		Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	42	9.376454	0.99153	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	.	.	.	5.58	5.58	0.84498	.	0.406128	0.29760	N	0.011275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4228	19.5713	0.95421	0.0:0.0:1.0:0.0	.	.	.	.	X	1084;1084;1085;1067;1084	.	ENSP00000243182:R1084X	R	-	1	2	STIL	47490009	0.983000	0.35010	0.999000	0.59377	0.985000	0.73830	4.224000	0.58593	2.623000	0.88846	0.460000	0.39030	CGA		0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		A	47717422	G	A	47717422	4	1	28	1	0	0	0	0	0	1	0	0	15281	1066	37	1	617	1	STIL	1	47717422	Nonsense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	5023834	47717422	201533199	4	2054											
FAM69A	388650	broad.mit.edu	37	chr1	93341936	93341936	+	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	aatccagcttccaacaaaaaCcactaaccaggaaaagaaaa	22	4	4	11	0	0	1	0	0	0	1	2	2	2	2	4	1	4	1	4	1	9	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:93341936C>A	ENST00000370310.4	-	2	176	c.106G>T	c.(106-108)Gtt>Ttt	p.V36F		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	36						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		CCAACAAAAACCACTAACCAG	0.338																																						.											0													72	69	70					1																	93341936		1841	4095	5936	SO:0001583	missense	388650			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.106G>T	1.37:g.93341936C>A	ENSP00000359333:p.Val36Phe		Q6IRV2	Missense_Mutation	SNP	ENST00000370310.4	37	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604035	0.66445	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.53423	0.62	5.48	5.48	0.80851	.	0.061173	0.64402	D	0.000004	T	0.60534	0.2276	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.80764	0.994;0.994;0.989	T	0.62329	-0.6877	10	0.87932	D	0	-14.4428	19.2974	0.94128	0.0:1.0:0.0:0.0	.	29;36;36	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	F	36	ENSP00000359333:V36F	ENSP00000359333:V36F	V	-	1	0	FAM69A	93114524	1.000000	0.71417	0.938000	0.37757	0.492000	0.33523	4.552000	0.60747	2.724000	0.93272	0.655000	0.94253	GTT		0.338	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	NM_001006605		A	93341936	C	A	93341936	3	1	28	1	0	0	0	0	1	0	0	0	5602	507	18	5	1196	5	FAM69A	1	93341936	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	45624514	93341936	155908685	5	2055											
ABCD3	5825	ucsc.edu	37	chr1	94884103	94884103	+	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	ggtgccgcgttcctgctgctCtgcctgctccacaagcggcg	3	9	13	16	4	1	0	0	0	1	0	3	0	3	0	4	2	6	4	4	2	1	1			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:94884103C>T	ENST00000370214.4	+	1	93	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000315713.5_Silent_p.L23L|ABCD3_ENST00000454898.2_Silent_p.L23L|ABCD3_ENST00000394233.2_Silent_p.L23L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	23	Interaction with PEX19.|Targeting to peroxisomes.				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)		TCCTGCTGCTCTGCCTGCTCC	0.716																																						.											0													22	19	20					1																	94884103		2201	4291	6492	SO:0001819	synonymous_variant	5825			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.69C>T	1.37:g.94884103C>T			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	CCDS749.1																																																																																				0.716	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		T	94884103	C	T	94884103	2	4	28	1	0	0	0	0	0	0	0	1	62	900	32	4		4	ABCD3	1	94884103	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10	1542167	94884103	154366518	6	2056											
EPHX1	2052	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	226027678	226027678	+	Missense_Mutation	SNP	T	T	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	ccgtcaaggagaaggtattcTacagcctgatgagggagagc	12	7	14	8	1	2	4	1	2	1	2	2	6	2	4	2	3	3	1	2	3	4	3			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr1:226027678T>C	ENST00000366837.4	+	6	1067	c.871T>C	c.(871-873)Tac>Cac	p.Y291H	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.Y291H	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	291					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)					GAAGGTATTCTACAGCCTGAT	0.602																																						.											0													143	124	130					1																	226027678		2203	4300	6503	SO:0001583	missense	2052			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.871T>C	1.37:g.226027678T>C	ENSP00000355802:p.Tyr291His		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432369	0.25813	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.61510	0.1;0.1	5.57	3.13	0.36017	Alpha/beta hydrolase fold-1 (1);	0.477487	0.24198	N	0.040659	T	0.38268	0.1034	L	0.31420	0.93	0.09310	N	1	B	0.11235	0.004	B	0.21151	0.033	T	0.08659	-1.0711	10	0.17369	T	0.5	-21.0142	5.624	0.17473	0.2271:0.1197:0.0:0.6532	.	291	P07099	HYEP_HUMAN	H	291	ENSP00000272167:Y291H;ENSP00000355802:Y291H	ENSP00000272167:Y291H	Y	+	1	0	EPHX1	224094301	0.062000	0.20869	0.864000	0.33941	0.491000	0.33493	-0.281000	0.08456	2.126000	0.65437	0.482000	0.46254	TAC		0.602	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		C	226027678	T	C	226027678	3	2	28	1	0	0	0	0	1	0	0	0	5179	1522	53	2	889	2	EPHX1	1	226027678	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	131143575	226027678	23222943	7	2057											
VPS54	51542	mdanderson.org	37	chr2	64124722	64124722	+	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	gcattaattcttaaaaataaCatctgaaaaagaaataaaac	23	10	3	5	0	2	2	0	1	2	1	2	2	2	2	0	0	2	1	0	0	10	5	rs11558741	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr2:64124722C>A	ENST00000272322.4	-	22	2890	c.2736G>T	c.(2734-2736)atG>atT	p.M912I	VPS54_ENST00000409558.4_Missense_Mutation_p.M900I|VPS54_ENST00000354504.3_Missense_Mutation_p.M759I			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	912			M -> I (in dbSNP:rs11558741).		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						TTAAAAATAACATCTGAAAAA	0.254													C|||	691	0.137979	0.1611	0.1441	5008	,	,		16567	0.0813		0.164	False		,,,				2504	0.1339					.											0								C	ILE/MET,ILE/MET	600,3794		38,524,1635	53	55	54		2700,2736	4.7	1	2	dbSNP_120	54	1292,7294		118,1056,3119	yes	missense,missense	VPS54	NM_001005739.1,NM_016516.2	10,10	156,1580,4754	AA,AC,CC		15.0478,13.655,14.5763	benign,benign	900/966,912/978	64124722	1892,11088	2197	4293	6490	SO:0001583	missense	51542			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.2736G>T	2.37:g.64124722C>A	ENSP00000272322:p.Met912Ile		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	328	0.15018315018315018	96	0.1951219512195122	45	0.12430939226519337	54	0.0944055944055944	133	0.17546174142480211	C	13.89	2.373226	0.42105	0.13655	0.150478	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.33438	1.41;1.42;1.42	5.58	4.69	0.59074	.	0.038119	0.85682	D	0.000000	T	0.00039	0.0001	L	0.47716	1.5	0.21652	P	0.999607941	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.001;0.0;0.003	T	0.10753	-1.0616	9	0.21540	T	0.41	.	9.7045	0.40207	0.1378:0.7903:0.0:0.072	rs11558741;rs17619976;rs60970434;rs17619976	759;912;900	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	I	759;912;900;900;912	ENSP00000346499:M759I;ENSP00000272322:M912I;ENSP00000386980:M900I	ENSP00000272322:M912I	M	-	3	0	VPS54	63978226	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.329000	0.52060	2.611000	0.88343	0.543000	0.68304	ATG		0.254	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		A	64124722	C	A	64124722	3	1	28	1	0	0	0	0	1	0	0	0	17213	478	17	5	205	5	VPS54	2	64124722	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		64124722	179074651	8	2058											
NCK2	8440	ucsc.edu	37	chr2	106509538	106509538	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgggcagcggcgcttccAcaccatggacgagctggtgg	7	7	15	12	3	0	0	0	0	0	0	1	2	1	1	2	5	2	3	2	5	0	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr2:106509538A>G	ENST00000233154.4	+	5	1491	c.1049A>G	c.(1048-1050)cAc>cGc	p.H350R	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.H350R|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	350	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CGGCGCTTCCACACCATGGAC	0.587																																						.											0													76	68	71					2																	106509538		2203	4300	6503	SO:0001583	missense	8440			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.1049A>G	2.37:g.106509538A>G	ENSP00000233154:p.His350Arg		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276996	0.23307	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.62364	0.03;0.03	5.3	4.15	0.48705	SH2 motif (5);	0.303418	0.38663	N	0.001610	T	0.40423	0.1116	N	0.12887	0.27	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.13522	-1.0506	10	0.17832	T	0.49	.	10.7944	0.46451	0.9258:0.0:0.0742:0.0	.	350	O43639	NCK2_HUMAN	R	350	ENSP00000233154:H350R;ENSP00000377018:H350R	ENSP00000233154:H350R	H	+	2	0	NCK2	105875970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.954000	0.49113	0.875000	0.35847	0.459000	0.35465	CAC		0.587	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		G	106509538	A	G	106509538	3	3	28	1	0	0	0	0	1	0	0	0	10220	159	6	2	1059	2	NCK2	2	106509538	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10	42384816	106509538	136689835	9	2059											
TANC1	85461	ucsc.edu	37	chr2	160031482	160031482	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtggcctaccactacTgccaggctgacaacacgtac	10	7	11	13	1	0	1	0	1	0	0	0	1	0	1	3	4	5	2	3	4	4	3			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr2:160031482T>C	ENST00000263635.6	+	12	1759	c.1522T>C	c.(1522-1524)Tgc>Cgc	p.C508R	TANC1_ENST00000454300.1_Missense_Mutation_p.C402R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	508					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTACCACTACTGCCAGGCTGA	0.572																																						.											0													290	292	291					2																	160031482		2149	4251	6400	SO:0001583	missense	85461			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.1522T>C	2.37:g.160031482T>C	ENSP00000263635:p.Cys508Arg		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492544	0.84962	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;D	0.82984	-1.59;-1.67	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	D	0.93127	0.6530	10	0.87932	D	0	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	500;402;508	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	402;508	ENSP00000396339:C402R;ENSP00000263635:C508R	ENSP00000263635:C508R	C	+	1	0	TANC1	159739728	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	2.188000	0.69820	0.533000	0.62120	TGC		0.572	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			C	160031482	T	C	160031482	3	2	28	1	0	0	0	0	1	0	0	0	15541	1580	55	2	1560	2	TANC1	2	160031482	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	53521944	160031482	83167891	10	2060											
FASTKD1	79675	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr2	170428445	170428445	+	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	gtggttcacaactgatgggtCgaaattgaaacactctccag	12	10	10	9	1	2	2	1	2	1	0	4	3	2	2	1	2	2	1	1	2	3	2	rs376071696		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr2:170428445C>T	ENST00000453153.2	-	2	441	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	FASTKD1_ENST00000453929.2_Missense_Mutation_p.R32Q	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	32					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R32Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACTGATGGGTCGAAATTGAAA	0.343																																						.											1	Substitution - Missense(1)	large_intestine(1)											73	70	71					2																	170428445		2203	4300	6503	SO:0001583	missense	79675			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.95G>A	2.37:g.170428445C>T	ENSP00000400513:p.Arg32Gln		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291846	0.40594	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.20200	2.09;2.09	5.07	4.19	0.49359	.	0.372834	0.27981	N	0.017078	T	0.21550	0.0519	M	0.64997	1.995	0.39070	D	0.960702	P;D;P	0.53885	0.938;0.963;0.883	B;B;B	0.38500	0.142;0.275;0.082	T	0.12319	-1.0552	10	0.38643	T	0.18	-26.2444	13.6022	0.62026	0.0:0.9246:0.0:0.0754	.	32;32;32	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	Q	32	ENSP00000400513:R32Q;ENSP00000403229:R32Q	ENSP00000396769:R32Q	R	-	2	0	FASTKD1	170136691	1.000000	0.71417	0.840000	0.33206	0.441000	0.31987	2.348000	0.44045	1.257000	0.44085	0.591000	0.81541	CGA		0.343	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		T	170428445	C	T	170428445	3	4	28	1	0	0	0	0	1	0	0	0	5685	884	31	1	2504	1	FASTKD1	2	170428445	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	10396963	170428445	72770928	11	2061											
MTMR14	64419	bcgsc.ca	37	chr3	9712769	9712769	+	Missense_Mutation	SNP	T	T	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	tttttgataaggtcagaggcTatgacatcaagctgcttcga	11	13	10	7	1	2	3	2	2	0	1	3	4	2	3	0	2	2	3	0	2	3	5			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr3:9712769T>C	ENST00000296003.4	+	6	714	c.592T>C	c.(592-594)Tat>Cat	p.Y198H	MTMR14_ENST00000351233.5_Missense_Mutation_p.Y198H|MTMR14_ENST00000353332.5_Missense_Mutation_p.Y198H|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	198					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GGTCAGAGGCTATGACATCAA	0.473																																						.											0													142	135	137					3																	9712769		1999	4179	6178	SO:0001583	missense	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.592T>C	3.37:g.9712769T>C	ENSP00000296003:p.Tyr198His		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577865	0.28180	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.89939	-2.59;-2.59;-2.59	5.91	4.87	0.63330	.	0.270310	0.42420	N	0.000717	T	0.64260	0.2582	N	0.00801	-1.175	0.35982	D	0.836093	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.58825	-0.7568	10	0.18276	T	0.48	-12.3384	3.5246	0.07755	0.0:0.5382:0.0:0.4617	.	198;198;198	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	H	198	ENSP00000323462:Y198H;ENSP00000296003:Y198H;ENSP00000334070:Y198H	ENSP00000296003:Y198H	Y	+	1	0	MTMR14	9687769	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.061000	0.41403	1.112000	0.41740	0.533000	0.62120	TAT		0.473	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		C	9712769	T	C	9712769	3	2	28	1	0	0	0	0	1	0	0	0	9942	1522	53	2	614	2	MTMR14	3	9712769	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		9712769	188309661	12	2062											
DNAH1	25981	broad.mit.edu	37	chr3	52416340	52416340	+	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	aaacttctgcctccagggccGagtacgagtgcttccagatt	9	10	10	12	2	1	1	0	0	1	1	3	3	3	1	4	1	4	2	4	1	2	4			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr3:52416340G>A	ENST00000420323.2	+	50	8071	c.7810G>A	c.(7810-7812)Gag>Aag	p.E2604K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2604	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCCAGGGCCGAGTACGAGTG	0.567																																						.											0													126	130	128					3																	52416340		2132	4259	6391	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7810G>A	3.37:g.52416340G>A	ENSP00000401514:p.Glu2604Lys		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968473	0.74131	.	.	ENSG00000114841	ENST00000420323	T	0.39229	1.09	4.49	4.49	0.54785	.	0.000000	0.51477	D	0.000088	T	0.57636	0.2067	M	0.76838	2.35	0.47905	D	0.999541	D	0.63880	0.993	P	0.58620	0.842	T	0.56529	-0.7964	10	0.25751	T	0.34	.	13.1715	0.59602	0.0:0.1602:0.8398:0.0	.	2604	C9JXH6	.	K	2604	ENSP00000401514:E2604K	ENSP00000401514:E2604K	E	+	1	0	DNAH1	52391380	1.000000	0.71417	0.953000	0.39169	0.827000	0.46813	4.931000	0.63469	2.322000	0.78497	0.462000	0.41574	GAG		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52416340	G	A	52416340	3	1	28	1	0	0	0	0	1	0	0	0	4597	1059	37	1	8004	1	DNAH1	3	52416340	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	42703571	52416340	145606090	13	2063											
HRG	3273	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	186395001	186395001	+	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	gacccccacctcctccagatGaaagagatcactcacatgga	13	6	7	15	0	2	3	2	1	0	2	4	6	4	4	5	1	0	0	5	1	1	0			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr3:186395001G>T	ENST00000232003.4	+	7	987	c.907G>T	c.(907-909)Gaa>Taa	p.E303*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	303	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)		TCCTCCAGATGAAAGAGATCA	0.527																																						.											0													209	170	184					3																	186395001		2203	4300	6503	SO:0001587	stop_gained	3273				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.907G>T	3.37:g.186395001G>T	ENSP00000232003:p.Glu303*		B9EK35|D3DNU7	Nonsense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021615	0.54576	.	.	ENSG00000113905	ENST00000232003	.	.	.	3.76	1.92	0.25849	.	1.401000	0.04631	N	0.403727	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	2.1006	5.4632	0.16627	0.1138:0.203:0.6831:0.0	.	.	.	.	X	303	.	ENSP00000232003:E303X	E	+	1	0	HRG	187877695	0.007000	0.16637	0.004000	0.12327	0.001000	0.01503	1.745000	0.38278	0.401000	0.25424	-0.226000	0.12346	GAA		0.527	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		T	186395001	G	T	186395001	4	4	28	1	0	0	0	0	0	1	0	0	7354	1291	45	5	933	5	HRG	3	186395001	Nonsense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	133978661	186395001	11627429	14	2064											
PDE6B	5158	ucsc.edu	37	chr4	656004	656004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgccacggcttcaacgtgGcccagacgatgttcacgctg	7	7	13	14	5	2	1	2	0	0	1	2	2	2	1	2	3	1	3	2	3	1	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:656004G>T	ENST00000496514.1	+	13	1717	c.1696G>T	c.(1696-1698)Gcc>Tcc	p.A566S	PDE6B_ENST00000255622.6_Missense_Mutation_p.A566S|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.A287S			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	566					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)	CTTCAACGTGGCCCAGACGAT	0.617																																					GBM(71;463 1194 9848 25922 46834)	.											0													47	36	40					4																	656004		2193	4293	6486	SO:0001583	missense	5158			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.1696G>T	4.37:g.656004G>T	ENSP00000420295:p.Ala566Ser		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539461	0.65085	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.77750	-1.12;-1.12;-1.12	4.41	4.41	0.53225	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.060860	0.64402	D	0.000004	T	0.69878	0.3160	L	0.28556	0.865	0.51012	D	0.999906	B;B	0.22983	0.078;0.063	B;B	0.29267	0.1;0.089	T	0.70396	-0.4883	10	0.66056	D	0.02	.	14.5094	0.67774	0.0:0.0:1.0:0.0	.	566;566	P35913;P35913-2	PDE6B_HUMAN;.	S	566;566;287	ENSP00000255622:A566S;ENSP00000420295:A566S;ENSP00000406334:A287S	ENSP00000255622:A566S	A	+	1	0	PDE6B	646004	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.246000	0.95438	2.001000	0.58596	0.558000	0.71614	GCC		0.617	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		T	656004	G	T	656004	3	4	28	1	0	0	0	0	1	0	0	0	11646	1203	42	5	1746	5	PDE6B	4	656004	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10		656004	190498272	15	2065											
RASL11B	65997	hgsc.bcm.edu	37	chr4	53728693	53728694	+	Frame_Shift_Del	DEL	AT	AT	-																															cgatgcgcctcattcagaacAtgtgcaccatcgccgagtac																										TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:53728693_53728694delAT	ENST00000248706.3	+	1	237_238	c.19_20delAT	c.(19-21)atgfs	p.M7fs		NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CATTCAGAACATGTGCACCATC	0.733																																						.											0																																										SO:0001589	frameshift_variant	65997			BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.19_20delAT	4.37:g.53728693_53728694delAT	ENSP00000248706:p.Met7fs			Frame_Shift_Del	DEL	ENST00000248706.3	37	CCDS3490.1																																																																																				0.733	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		-	53728694	AT	-	53728693	7	5	28	1	0	1	0	1	0	0	0	0	13082	217	8	0	21	0	RASL11B	4	53728693	Frame_Shift_Del	DEL	AT	TCGA-KM-8441-01A-11D-2310-10	53072689	53728693	137425583	16	2066											
UGT2B7	7364	broad.mit.edu	37	chr4	69962648	69962648	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcaaataagaaatttaTgaaaaaagtacaagagtcaa	22	10	6	3	0	2	3	2	1	0	2	2	3	2	3	0	0	1	2	0	0	10	5	rs368476298		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:69962648T>C	ENST00000508661.1	+	1	437	c.410T>C	c.(409-411)aTg>aCg	p.M137T	UGT2B7_ENST00000305231.7_Missense_Mutation_p.M137T|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	137					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAGAAATTTATGAAAAAAGTA	0.323																																						.											0								T	THR/MET	0,4400		0,0,2200	70	71	70		410	2.5	0	4		70	1,8593	1.2+/-3.3	0,1,4296	no	missense	UGT2B7	NM_001074.2	81	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	137/530	69962648	1,12993	2200	4297	6497	SO:0001583	missense	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.410T>C	4.37:g.69962648T>C	ENSP00000427659:p.Met137Thr		B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	T	9.836	1.189712	0.21954	0.0	1.16E-4	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61510	0.1;0.1	2.54	2.54	0.30619	.	0.286793	0.30338	U	0.009850	T	0.64046	0.2563	M	0.90814	3.15	0.27669	N	0.946838	B;P	0.35192	0.087;0.489	B;B	0.39935	0.168;0.314	T	0.62144	-0.6916	9	.	.	.	.	8.5583	0.33494	0.0:0.0:0.0:1.0	.	137;137	E9PBP8;P16662	.;UD2B7_HUMAN	T	137	ENSP00000304811:M137T;ENSP00000427659:M137T	.	M	+	2	0	UGT2B7	69997237	0.436000	0.25586	0.007000	0.13788	0.014000	0.08584	3.768000	0.55295	1.157000	0.42530	0.260000	0.18958	ATG		0.323	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		C	69962648	T	C	69962648	3	2	28	1	0	0	0	0	1	0	0	0	16959	1464	51	4	412	4	UGT2B7	4	69962648	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	16233955	69962648	121191628	17	2067											
PLK4	10733	broad.mit.edu;bcgsc.ca	37	chr4	128814529	128814529	+	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	aaagtgaaagtgaagttaatAgcttgaaagaggagataaaa	21	8	11	1	0	0	5	0	3	0	2	0	6	0	5	0	1	1	2	0	1	8	4			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:128814529A>C	ENST00000270861.5	+	11	2552	c.2278A>C	c.(2278-2280)Agc>Cgc	p.S760R	PLK4_ENST00000507249.1_Missense_Mutation_p.S699R|PLK4_ENST00000514379.1_Missense_Mutation_p.S719R|PLK4_ENST00000513090.1_Missense_Mutation_p.S728R|PLK4_ENST00000515069.1_Missense_Mutation_p.S682R|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	760					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TGAAGTTAATAGCTTGAAAGA	0.299																																					Colon(135;508 1718 19061 31832 42879)	.											0													81	85	84					4																	128814529		2202	4299	6501	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2278A>C	4.37:g.128814529A>C	ENSP00000270861:p.Ser760Arg		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395123	0.62066	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.69306	-0.24;-0.24;-0.39;-0.24;-0.31	5.08	3.86	0.44501	.	0.293682	0.43260	D	0.000594	T	0.57403	0.2051	L	0.47716	1.5	0.27142	N	0.961622	P;P	0.48089	0.905;0.684	P;B	0.44518	0.452;0.265	T	0.57177	-0.7856	10	0.66056	D	0.02	-0.3977	4.2527	0.10702	0.7068:0.0:0.1166:0.1766	.	728;760	O00444-2;O00444	.;PLK4_HUMAN	R	760;682;728;699;719	ENSP00000270861:S760R;ENSP00000421774:S682R;ENSP00000427554:S728R;ENSP00000423412:S699R;ENSP00000423582:S719R	ENSP00000270861:S760R	S	+	1	0	PLK4	129033979	1.000000	0.71417	0.654000	0.29608	0.874000	0.50279	3.069000	0.50026	0.905000	0.36596	0.533000	0.62120	AGC		0.299	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			C	128814529	A	C	128814529	3	2	28	1	0	0	0	0	1	0	0	0	12098	420	15	5	2320	5	PLK4	4	128814529	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10	58851881	128814529	62339747	18	2068											
ENPP6	133121	bcgsc.ca	37	chr4	185138788	185138788	+	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	tagggaagtctggagtcaagTaatccacttttactcccctg	10	12	9	10	0	2	0	1	0	1	0	4	2	4	2	3	2	1	1	3	2	5	4			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr4:185138788T>A	ENST00000296741.2	-	1	326	c.185A>T	c.(184-186)tAc>tTc	p.Y62F		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	62					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGGAGTCAAGTAATCCACTTT	0.493																																						.											0													86	80	82					4																	185138788		2203	4300	6503	SO:0001583	missense	133121			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.185A>T	4.37:g.185138788T>A	ENSP00000296741:p.Tyr62Phe		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.248979	0.59103	.	.	ENSG00000164303	ENST00000296741	T	0.73789	-0.78	5.28	5.28	0.74379	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	L	0.60845	1.875	0.80722	D	1	P	0.46706	0.883	P	0.49887	0.625	T	0.74671	-0.3587	10	0.26408	T	0.33	-28.6202	15.3844	0.74684	0.0:0.0:0.0:1.0	.	62	Q6UWR7	ENPP6_HUMAN	F	62	ENSP00000296741:Y62F	ENSP00000296741:Y62F	Y	-	2	0	ENPP6	185375782	1.000000	0.71417	0.962000	0.40283	0.152000	0.21847	7.412000	0.80091	2.210000	0.71456	0.533000	0.62120	TAC		0.493	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		A	185138788	T	A	185138788	3	1	28	1	0	0	0	0	1	0	0	0	5134	1638	57	5	1169	5	ENPP6	4	185138788	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	56324259	185138788	6015488	19	2069											
ISOC1	51015	ucsc.edu;mdanderson.org	37	chr5	128430757	128430757	+	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	gcaaggtgcgcctcgtgccgTtgcagatccaggtgggtcct	5	9	15	12	3	0	1	0	0	0	1	3	1	2	1	4	3	3	3	4	3	1	1	rs1127827	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr5:128430757T>C	ENST00000173527.5	+	1	314	c.298T>C	c.(298-300)Ttg>Ctg	p.L100L	MIR4633_ENST00000584064.1_RNA	NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	100						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCTCGTGCCGTTGCAGATCCA	0.692													C|||	4039	0.80651	0.9682	0.7464	5008	,	,		11507	0.8661		0.6004	False		,,,				2504	0.7812					.											0								C		3754,388		1706,342,23	17	21	20		298	3.4	1	5	dbSNP_86	20	5111,3281		1551,2009,636	no	coding-synonymous	ISOC1	NM_016048.2		3257,2351,659	CC,CT,TT		39.0968,9.3675,29.2724		100/299	128430757	8865,3669	2071	4196	6267	SO:0001819	synonymous_variant	51015			AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.298T>C	5.37:g.128430757T>C			Q7Z770	Silent	SNP	ENST00000173527.5	37	CCDS43357.1																																																																																				0.692	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		C	128430757	T	C	128430757	2	2	28	1	0	0	0	0	0	0	0	1	7862	1722	60	2		2	ISOC1	5	128430757	Silent	SNP	T	TCGA-KM-8441-01A-11D-2310-10		128430757	52484503	20	2070											
MRPS10	55173	broad.mit.edu	37	chr6	42179589	42179589	+	Missense_Mutation	SNP	T	T	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	ataactgtccaatacagcctTatcgtgacctttcaccaaaa	14	11	4	12	1	1	1	1	1	0	0	3	1	2	1	4	0	3	0	4	0	6	4			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr6:42179589T>C	ENST00000053468.3	-	4	268	c.253A>G	c.(253-255)Aag>Gag	p.K85E		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	85						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			AATACAGCCTTATCGTGACCT	0.388																																						.											0													115	112	113					6																	42179589		2203	4300	6503	SO:0001583	missense	55173				CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"Mitochondrial ribosomal proteins / small subunits"	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.253A>G	6.37:g.42179589T>C	ENSP00000053468:p.Lys85Glu		B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120923	0.56613	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.78	4.58	0.56647	.	0.182436	0.64402	D	0.000017	T	0.42426	0.1202	L	0.43152	1.355	0.38608	D	0.950836	D	0.56746	0.977	P	0.54544	0.755	T	0.35176	-0.9799	9	0.33940	T	0.23	-11.204	11.2704	0.49136	0.1371:0.0:0.0:0.8629	.	85	P82664	RT10_HUMAN	E	85	.	ENSP00000053468:K85E	K	-	1	0	MRPS10	42287567	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.294000	0.78760	0.963000	0.38082	0.533000	0.62120	AAG		0.388	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			C	42179589	T	C	42179589	3	2	28	1	0	0	0	0	1	0	0	0	9821	1763	61	4	368	4	MRPS10	6	42179589	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		42179589	128935478	21	2071											
PRDM13	59336	bcgsc.ca	37	chr6	100057081	100057081	+	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	agatcttctaccgagcattgCgagacgtccagccaggggag	10	7	13	11	3	2	2	0	0	2	2	3	5	3	3	3	2	4	1	3	2	1	3			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr6:100057081C>T	ENST00000369215.4	+	3	600	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	99	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		CCGAGCATTGCGAGACGTCCA	0.507																																						.											0													56	61	59					6																	100057081		2089	4228	6317	SO:0001587	stop_gained	59336			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.295C>T	6.37:g.100057081C>T	ENSP00000358217:p.Arg99*		Q5TGC1|Q5TGC2	Nonsense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	38	7.278789	0.98182	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	.	.	.	5.51	1.15	0.20763	.	0.000000	0.32372	N	0.006183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1248	14.7894	0.69827	0.597:0.403:0.0:0.0	.	.	.	.	X	99;109	.	ENSP00000358216:R109X	R	+	1	2	PRDM13	100163802	0.998000	0.40836	0.638000	0.29380	0.992000	0.81027	1.143000	0.31553	0.655000	0.30866	0.456000	0.33151	CGA		0.507	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			T	100057081	C	T	100057081	4	4	28	1	0	0	0	0	0	1	0	0	12454	760	27	1	305	1	PRDM13	6	100057081	Nonsense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	57877492	100057081	71057986	22	2072											
MEST	4232	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr7	130140638	130140638	+	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	ggactctttcagtctcacccCagtctttgggccgtatactc	6	13	8	14	1	4	0	2	0	3	0	6	1	4	1	3	2	1	1	3	2	2	4			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr7:130140638C>T	ENST00000223215.4	+	9	877	c.656C>T	c.(655-657)cCa>cTa	p.P219L	MEST_ENST00000416162.2_Intron|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.P219L|MEST_ENST00000341441.5_Missense_Mutation_p.P210L|MEST_ENST00000378576.4_Intron|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.P210L	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	219					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGTCTCACCCCAGTCTTTGGG	0.517																																					Colon(126;2182 2305 6517 35181)	.											0													62	55	57					7																	130140638		2203	4300	6503	SO:0001583	missense	4232				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.656C>T	7.37:g.130140638C>T	ENSP00000223215:p.Pro219Leu		B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536649	0.45176	.	.	ENSG00000106484	ENST00000341441;ENST00000393187;ENST00000223215;ENST00000437945	T;T;T;T	0.03801	3.8;3.8;3.8;3.8	5.95	3.9	0.45041	.	0.000000	0.52532	D	0.000067	T	0.04182	0.0116	L	0.39898	1.24	0.37717	D	0.924792	B;B;B	0.30146	0.021;0.27;0.042	B;B;B	0.24541	0.011;0.054;0.026	T	0.40079	-0.9582	10	0.30854	T	0.27	-8.4069	8.3751	0.32438	0.1582:0.755:0.0:0.0867	.	205;219;219	B4DQW6;C9JW74;Q5EB52	.;.;MEST_HUMAN	L	210;210;219;219	ENSP00000342749:P210L;ENSP00000376884:P210L;ENSP00000223215:P219L;ENSP00000401657:P219L	ENSP00000223215:P219L	P	+	2	0	MEST	129927874	0.913000	0.31002	0.971000	0.41717	0.992000	0.81027	1.823000	0.39062	2.821000	0.97095	0.561000	0.74099	CCA		0.517	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		T	130140638	C	T	130140638	3	4	28	1	0	0	0	0	1	0	0	0	9484	594	21	4	690	4	MEST	7	130140638	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		130140638	28998025	23	2073											
FAM160B2	64760	broad.mit.edu;hgsc.bcm.edu	37	chr8	21956855	21956855	+	Frame_Shift_Del	DEL	C	C	-																															tcttcgtggagaccctgcagCcccagctcctgcacgtgtaa																										TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr8:21956855delC	ENST00000289921.7	+	9	1181	c.1135delC	c.(1135-1137)cccfs	p.P379fs		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	379										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCCTGCAGCCCCAGCTCCT	0.587																																						.											0													48	54	52					8																	21956855		2138	4235	6373	SO:0001589	frameshift_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1135delC	8.37:g.21956855delC	ENSP00000289921:p.Pro379fs		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Frame_Shift_Del	DEL	ENST00000289921.7	37	CCDS6021.2																																																																																				0.587	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			-	21956855	C	-	21956855	7	5	28	1	0	1	0	1	0	0	0	0	5471	739	26	0	968	0	FAM160B2	8	21956855	Frame_Shift_Del	DEL	C	TCGA-KM-8441-01A-11D-2310-10		21956855	124407167	24	2074	58	2									
FAM160B2	64760	bcgsc.ca	37	chr8	21956856	21956856	+	Frame_Shift_Del	DEL	C	C	-																															cttcgtggagaccctgcagcCccagctcctgcacgtgtaag																										TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr8:21956856delC	ENST00000289921.7	+	9	1182	c.1136delC	c.(1135-1137)cccfs	p.P379fs		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	379										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						ACCCTGCAGCCCCAGCTCCTG	0.582																																						.											0													49	54	52					8																	21956856		2138	4235	6373	SO:0001589	frameshift_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1136delC	8.37:g.21956856delC	ENSP00000289921:p.Pro379fs		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Frame_Shift_Del	DEL	ENST00000289921.7	37	CCDS6021.2																																																																																				0.582	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			-	21956856	C	-	21956856	7	5	28	1	0	1	0	1	0	0	0	0	5471	623	22	0	969	0	FAM160B2	8	21956856	Frame_Shift_Del	DEL	C	TCGA-KM-8441-01A-11D-2310-10	1	21956856	124407166	25	2075	58	2									
MCM4	4173	broad.mit.edu	37	chr8	48882495	48882495	+	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	gccttgatgaagaagcagaaCagaaacttttttcagagaaa	17	9	9	6	0	1	6	1	2	0	4	1	7	1	6	1	0	3	1	1	0	5	4			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr8:48882495C>T	ENST00000262105.2	+	10	1521	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.Q438*|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	438					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGAAGCAGAACAGAAACTTTT	0.413																																						.											0													150	146	147					8																	48882495		2203	4300	6503	SO:0001587	stop_gained	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1312C>T	8.37:g.48882495C>T	ENSP00000262105:p.Gln438*		Q8NEH1|Q99658	Nonsense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491914	0.96339	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	.	.	.	6.17	6.17	0.99709	.	0.103011	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-17.1867	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	438;438;425;398;156	.	ENSP00000262105:Q438X	Q	+	1	0	MCM4	49045048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.416000	0.80143	2.941000	0.99782	0.655000	0.94253	CAG		0.413	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		T	48882495	C	T	48882495	4	4	28	1	0	0	0	0	0	1	0	0	9389	479	17	4	1350	4	MCM4	8	48882495	Nonsense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	26925639	48882495	97481527	26	2076											
PCMTD1	115294	mdanderson.org	37	chr8	52733016	52733016	+	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	ggtggctcctctggcttcatTgcttcattgtgatctttttc	3	19	9	10	0	4	1	2	1	2	0	6	1	5	1	1	3	1	3	1	3	0	6	rs117828481		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr8:52733016T>C	ENST00000360540.5	-	7	1375	c.969A>G	c.(967-969)gcA>gcG	p.A323A	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Silent_p.A247A|PCMTD1_ENST00000522514.1_Silent_p.A323A	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	323						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)				CTGGCTTCATTGCTTCATTGT	0.393																																						.											0													100	84	89					8																	52733016		2203	4300	6503	SO:0001819	synonymous_variant	115294				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.969A>G	8.37:g.52733016T>C			Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1																																																																																				0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733016	T	C	52733016	2	2	28	1	0	0	0	0	0	0	0	1	11586	1799	63	4		4	PCMTD1	8	52733016	Silent	SNP	T	TCGA-KM-8441-01A-11D-2310-10	3850521	52733016	93631006	27	2077											
C9orf43	257169	hgsc.bcm.edu;bcgsc.ca	37	chr9	116183413	116183413	+	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	tgaatttgaatgagacgcaaCttccctgccctgaagatgtt	11	12	9	9	1	0	5	0	4	0	2	1	6	1	5	2	0	2	2	2	0	4	3			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr9:116183413C>T	ENST00000288462.4	+	5	822	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	C9orf43_ENST00000374165.1_Missense_Mutation_p.L126F|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	126										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAGACGCAACTTCCCTGCCC	0.398																																						.											0													162	141	148					9																	116183413		2203	4300	6503	SO:0001583	missense	257169			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.376C>T	9.37:g.116183413C>T	ENSP00000288462:p.Leu126Phe			Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.245199	0.39697	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.56444	0.46;0.46	5.45	3.53	0.40419	.	0.576149	0.14604	N	0.309427	T	0.59018	0.2163	L	0.34521	1.04	0.23589	N	0.997348	D	0.67145	0.996	D	0.68943	0.961	T	0.49224	-0.8962	10	0.44086	T	0.13	-6.1702	11.0582	0.47931	0.367:0.633:0.0:0.0	.	126	Q8TAL5	CI043_HUMAN	F	126	ENSP00000363280:L126F;ENSP00000288462:L126F	ENSP00000288462:L126F	L	+	1	0	C9orf43	115223234	0.119000	0.22226	0.251000	0.24312	0.236000	0.25371	0.171000	0.16685	0.694000	0.31654	0.655000	0.94253	CTT		0.398	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		T	116183413	C	T	116183413	3	4	28	1	0	0	0	0	1	0	0	0	2483	565	20	4	390	4	C9orf43	9	116183413	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		116183413	25030018	28	2078											
PAPPA	5069	broad.mit.edu	37	chr9	118950340	118950340	+	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	cacgacggcggggattgccgCcacctgcgccaccctgcctt	5	6	12	18	5	0	0	0	0	0	0	0	2	0	1	6	3	3	0	6	3	0	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr9:118950340C>T	ENST00000328252.3	+	2	1692	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	441	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R441R(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGATTGCCGCCACCTGCGCC	0.587																																						.											1	Substitution - coding silent(1)	lung(1)											76	56	63					9																	118950340		2203	4300	6503	SO:0001819	synonymous_variant	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1323C>T	9.37:g.118950340C>T			B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	CCDS6813.1																																																																																				0.587	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		T	118950340	C	T	118950340	2	4	28	1	0	0	0	0	0	0	0	1	11432	726	26	3		3	PAPPA	9	118950340	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10	2766927	118950340	22263091	29	2079											
BAG3	9531	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr10	121431909	121431909	+	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	gatacacgagcagaacgttaCccggccagcagcccagccct	11	4	10	16	3	0	1	0	0	0	1	0	3	0	1	4	1	7	3	4	1	3	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr10:121431909C>T	ENST00000369085.3	+	3	956	c.650C>T	c.(649-651)aCc>aTc	p.T217I		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	217					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)		CAGAACGTTACCCGGCCAGCA	0.647																																						.											0													85	83	83					10																	121431909		2203	4300	6503	SO:0001583	missense	9531			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.650C>T	10.37:g.121431909C>T	ENSP00000358081:p.Thr217Ile		A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723148	0.30503	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74632	-0.86;-0.84	6.17	1.97	0.26223	.	0.855613	0.10915	N	0.620169	T	0.64057	0.2564	L	0.51422	1.61	0.09310	N	1	B;B	0.24823	0.112;0.112	B;B	0.19148	0.024;0.024	T	0.51756	-0.8665	10	0.33141	T	0.24	-2.95	6.1116	0.20104	0.2229:0.4998:0.2167:0.0607	.	217;217	O95817;Q53GY1	BAG3_HUMAN;.	I	217;159	ENSP00000358081:T217I;ENSP00000410036:T159I	ENSP00000358081:T217I	T	+	2	0	BAG3	121421899	0.000000	0.05858	0.562000	0.28370	0.963000	0.63663	-0.043000	0.12043	0.875000	0.35847	0.655000	0.94253	ACC		0.647	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		T	121431909	C	T	121431909	3	4	28	1	0	0	0	0	1	0	0	0	1288	507	18	3	660	3	BAG3	10	121431909	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		121431909	14102838	30	2080											
PAMR1	25891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	35492290	35492290	+	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	acgcttgatgatctggccatCgcggttgtctccatcacgaa	8	11	10	12	4	3	2	1	2	2	0	5	3	3	2	2	2	0	2	2	2	1	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr11:35492290C>T	ENST00000378880.2	-	5	1016	c.571G>A	c.(571-573)Gat>Aat	p.D191N	PAMR1_ENST00000278360.3_Missense_Mutation_p.D191N|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.D151N|PAMR1_ENST00000378878.3_Intron	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	191	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCTGGCCATCGCGGTTGTCT	0.542																																						.											0													141	107	119					11																	35492290		2202	4298	6500	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.571G>A	11.37:g.35492290C>T	ENSP00000368158:p.Asp191Asn		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	1.701	-0.501550	0.04261	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000532848;ENST00000527605	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.39	3.43	0.39272	CUB (5);	0.199701	0.52532	N	0.000080	T	0.09905	0.0243	N	0.11756	0.17	0.80722	D	1	B;B	0.16802	0.019;0.015	B;B	0.15052	0.012;0.012	T	0.10567	-1.0624	10	0.87932	D	0	.	9.4997	0.39011	0.1413:0.7822:0.0:0.0765	.	191;191	Q6UXH9;Q6UXH9-2	PAMR1_HUMAN;.	N	191;191;151;151	ENSP00000278360:D191N;ENSP00000368158:D191N;ENSP00000433868:D151N;ENSP00000432591:D151N	ENSP00000278360:D191N	D	-	1	0	PAMR1	35448866	0.984000	0.35163	0.009000	0.14445	0.011000	0.07611	2.568000	0.45965	0.574000	0.29417	0.655000	0.94253	GAT		0.542	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		T	35492290	C	T	35492290	3	4	28	1	0	0	0	0	1	0	0	0	11413	884	31	1	1674	1	PAMR1	11	35492290	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10		35492290	99514226	31	2081											
CNTN5	53942	ucsc.edu	37	chr11	100141946	100141946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagatccaagcaccccaTctcgaatgatccgcacaaat	14	6	7	14	2	1	2	0	1	1	1	4	4	3	2	4	1	1	2	4	1	3	0			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr11:100141946T>C	ENST00000524871.1	+	18	2577	c.2287T>C	c.(2287-2289)Tct>Cct	p.S763P	CNTN5_ENST00000279463.3_Missense_Mutation_p.S763P|CNTN5_ENST00000527185.1_Missense_Mutation_p.S763P|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S763P|CNTN5_ENST00000418526.2_Missense_Mutation_p.S689P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	763	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGCACCCCATCTCGAATGAT	0.453																																						.											0													95	92	93					11																	100141946		1931	4133	6064	SO:0001583	missense	53942			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.2287T>C	11.37:g.100141946T>C	ENSP00000435637:p.Ser763Pro		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562517	0.86335	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.89696	0.3901	10	0.87932	D	0	.	14.8139	0.70017	0.0:0.0:0.0:1.0	.	689;763	O94779-2;O94779	.;CNTN5_HUMAN	P	763;763;763;689;763	ENSP00000433575:S763P;ENSP00000436185:S763P;ENSP00000435637:S763P;ENSP00000393229:S689P;ENSP00000279463:S763P	ENSP00000279463:S763P	S	+	1	0	CNTN5	99647156	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.589000	0.82641	2.094000	0.63399	0.383000	0.25322	TCT		0.453	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		C	100141946	T	C	100141946	3	2	28	1	0	0	0	0	1	0	0	0	3644	1435	50	4	2349	4	CNTN5	11	100141946	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	64649656	100141946	34864570	32	2082											
ACAT1	38	mdanderson.org	37	chr11	107992346	107992346	+	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	ctgcgaccatggctgtgctgGcggcacttctgcgcagcggc	4	8	15	14	4	1	0	0	0	1	0	1	1	1	0	1	4	4	4	1	4	0	1	rs11540420|rs3741056	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr11:107992346G>C	ENST00000265838.4	+	1	104	c.13G>C	c.(13-15)Gcg>Ccg	p.A5P	ACAT1_ENST00000299355.6_Missense_Mutation_p.A5P|RP11-144G7.2_ENST00000525548.1_RNA	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	5			A -> P (in dbSNP:rs3741056).		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)	GGCTGTGCTGGCGGCACTTCT	0.726													G|||	1662	0.331869	0.1293	0.4222	5008	,	,		13418	0.3601		0.3419	False		,,,				2504	0.502					.											0								G	PRO/ALA	498,3570		40,418,1576	7	7	7		13	0.2	0	11	dbSNP_107	7	2021,5923		259,1503,2210	yes	missense	ACAT1	NM_000019.3	27	299,1921,3786	CC,CG,GG		25.4406,12.2419,20.9707	possibly-damaging	5/428	107992346	2519,9493	2034	3972	6006	SO:0001583	missense	38			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.13G>C	11.37:g.107992346G>C	ENSP00000265838:p.Ala5Pro		B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	CCDS8339.1	677	0.309981684981685	73	0.1483739837398374	142	0.39226519337016574	210	0.36713286713286714	252	0.3324538258575198	G	16.39	3.111218	0.56398	0.122419	0.254406	ENSG00000075239	ENST00000265838;ENST00000299355	D;D	0.93906	-3.13;-3.31	3.31	0.195	0.15151	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;P	0.37864	0.61;0.514	B;B	0.35688	0.103;0.208	T	0.11792	-1.0573	8	0.66056	D	0.02	-1.264	2.6303	0.04942	0.2756:0.0:0.4998:0.2246	rs3741056;rs17800684;rs17845275;rs17858107;rs3741056	5;5	P24752;G3XAB4	THIL_HUMAN;.	P	5	ENSP00000265838:A5P;ENSP00000299355:A5P	ENSP00000265838:A5P	A	+	1	0	ACAT1	107497556	0.001000	0.12720	0.002000	0.10522	0.760000	0.43138	-0.118000	0.10692	0.050000	0.15949	-0.475000	0.04921	GCG		0.726	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		C	107992346	G	C	107992346	3	2	28	1	0	0	0	0	1	0	0	0	121	1203	42	5	15	5	ACAT1	11	107992346	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	7850400	107992346	27014170	33	2083											
FOXM1	2305	ucsc.edu	37	chr12	2968317	2968317	+	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	gtcttaaaaggtcctcccacTtcctgggagtagctgagctg	8	11	11	11	0	1	1	0	1	1	0	4	2	4	2	3	2	2	3	3	2	3	3			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr12:2968317T>C	ENST00000359843.3	-	9	1847	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	FOXM1_ENST00000361953.3_Silent_p.E578E|FOXM1_ENST00000342628.2_Silent_p.E631E|AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	593					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)			GTCCTCCCACTTCCTGGGAGT	0.602																																						.											0													49	57	54					12																	2968317		2194	4287	6481	SO:0001819	synonymous_variant	2305			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.1779A>G	12.37:g.2968317T>C			O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1																																																																																				0.602	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		C	2968317	T	C	2968317	2	2	28	1	0	0	0	0	0	0	0	1	6018	1606	56	2		2	FOXM1	12	2968317	Silent	SNP	T	TCGA-KM-8441-01A-11D-2310-10		2968317	130883578	34	2084											
OR4K5	79317	broad.mit.edu	37	chr14	20389392	20389392	+	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	agtggaattctttccctaagCactttctctctcttggtcag	7	16	7	11	0	4	0	1	0	3	0	7	1	5	1	1	2	1	1	1	2	2	5			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr14:20389392C>T	ENST00000315915.4	+	1	652	c.627C>T	c.(625-627)agC>agT	p.S209S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCCCTAAGCACTTTCTCTC	0.428																																						.											0													266	276	273					14																	20389392		2203	4300	6503	SO:0001819	synonymous_variant	79317			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.627C>T	14.37:g.20389392C>T			Q6IFA7	Silent	SNP	ENST00000315915.4	37	CCDS32024.1																																																																																				0.428	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		T	20389392	C	T	20389392	2	4	28	1	0	0	0	0	0	0	0	1	11073	709	25	4		4	OR4K5	14	20389392	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10		20389392	86960148	35	2085											
FLRT2	23768	broad.mit.edu	37	chr14	86088695	86088695	+	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	tcaaatctgcgtaagctggaAcggctggatatatccaacaa	14	9	9	9	2	2	0	1	0	1	0	3	2	3	2	1	3	4	3	1	3	7	3			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr14:86088695A>G	ENST00000330753.4	+	2	1604	c.837A>G	c.(835-837)gaA>gaG	p.E279E	FLRT2_ENST00000554746.1_Silent_p.E279E	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	279					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTAAGCTGGAACGGCTGGATA	0.488																																						.											0													161	163	163					14																	86088695		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.837A>G	14.37:g.86088695A>G			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.488	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			G	86088695	A	G	86088695	2	3	28	1	0	0	0	0	0	0	0	1	5939	40	2	2		2	FLRT2	14	86088695	Silent	SNP	A	TCGA-KM-8441-01A-11D-2310-10	65699303	86088695	21260845	36	2086											
SLC25A29	123096	mdanderson.org	37	chr14	100759046	100759046	+	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	aagtagacgccgaagctgggCgtctcacgcagcaacgtgga	11	5	14	11	5	1	1	1	0	1	1	2	3	1	2	1	2	3	4	1	2	4	1	rs3825555	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr14:100759046C>A	ENST00000359232.3	-	4	786	c.486G>T	c.(484-486)acG>acT	p.T162T	SLC25A29_ENST00000556505.1_Silent_p.T96T|AL157871.2_ENST00000553954.1_RNA|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000539621.1_Silent_p.T96T|SLC25A29_ENST00000554912.1_Silent_p.T96T|SLC25A29_ENST00000555927.1_Silent_p.T96T|SLC25A29_ENST00000392908.3_3'UTR	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	162						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)	CGAAGCTGGGCGTCTCACGCA	0.682													C|||	2656	0.530351	0.3865	0.6081	5008	,	,		13189	0.7083		0.5676	False		,,,				2504	0.4479					.											0								C		1913,2477		431,1051,713	29	19	22		486	1.1	1	14	dbSNP_107	22	4870,3718		1397,2076,821	no	coding-synonymous	SLC25A29	NM_001039355.1		1828,3127,1534	AA,AC,CC		43.293,43.5763,47.7346		162/304	100759046	6783,6195	2195	4294	6489	SO:0001819	synonymous_variant	123096			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.486G>T	14.37:g.100759046C>A			A3KMR5|Q541V0	Silent	SNP	ENST00000359232.3	37	CCDS32156.1																																																																																				0.682	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3			A	100759046	C	A	100759046	2	1	28	1	0	0	0	0	0	0	0	1	14492	755	27	5		5	SLC25A29	14	100759046	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10	14670351	100759046	6590494	37	2087											
PLD4	122618	broad.mit.edu	37	chr14	105393529	105393529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacatggccatgctccAtgccgccccgccgcccgtgg	4	5	10	22	4	0	0	0	0	0	0	1	0	1	0	9	2	2	1	9	2	0	0			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr14:105393529A>G	ENST00000392593.4	+	2	220	c.52A>G	c.(52-54)Atg>Gtg	p.M18V	PLD4_ENST00000540372.1_Missense_Mutation_p.M25V	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	18					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCCATGCTCCATGCCGCCCCG	0.662																																						.											0													11	13	13					14																	105393529		1937	4121	6058	SO:0001583	missense	122618				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.52A>G	14.37:g.105393529A>G	ENSP00000376372:p.Met18Val		Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	A	2.297	-0.361131	0.05103	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.19669	2.13;2.13;2.13	2.57	-1.83	0.07833	.	.	.	.	.	T	0.06690	0.0171	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	0.37934	-0.9684	9	0.06757	T	0.87	-4.4028	2.3307	0.04235	0.4379:0.0:0.3314:0.2307	.	25;18	F5H2B5;Q96BZ4	.;PLD4_HUMAN	V	25;18;18	ENSP00000438677:M25V;ENSP00000376372:M18V;ENSP00000451278:M18V	ENSP00000376372:M18V	M	+	1	0	PLD4	104464574	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.225000	0.02956	-0.406000	0.07588	-0.385000	0.06624	ATG		0.662	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		G	105393529	A	G	105393529	3	3	28	1	0	0	0	0	1	0	0	0	12048	217	8	4	54	4	PLD4	14	105393529	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10	4634483	105393529	1956011	38	2088											
SECISBP2L	9728	hgsc.bcm.edu;bcgsc.ca	37	chr15	49304956	49304956	+	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	gatgtcaaacagggctgactTttggttaaaggttttctatt	10	16	10	5	0	2	1	1	1	1	0	2	2	2	1	0	3	1	3	0	3	4	7			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr15:49304956T>A	ENST00000559471.1	-	12	1883	c.1620A>T	c.(1618-1620)aaA>aaT	p.K540N	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.K495N	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	540							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGGGCTGACTTTTGGTTAAAG	0.363																																						.											0													111	117	115					15																	49304956		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1620A>T	15.37:g.49304956T>A	ENSP00000453854:p.Lys540Asn		Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198546	0.58126	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74209	-0.82	5.76	4.65	0.58169	.	0.146472	0.64402	D	0.000012	T	0.67655	0.2916	L	0.60455	1.87	0.38431	D	0.946435	P;P	0.39480	0.664;0.675	B;B	0.38106	0.157;0.265	T	0.70389	-0.4885	10	0.72032	D	0.01	.	6.2599	0.20893	0.0:0.2924:0.0:0.7076	.	540;495	Q93073;Q93073-2	SBP2L_HUMAN;.	N	495;540	ENSP00000261847:K495N	ENSP00000261847:K495N	K	-	3	2	SECISBP2L	47092248	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.105000	0.31086	1.026000	0.39733	0.528000	0.53228	AAA		0.363	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		A	49304956	T	A	49304956	3	1	28	1	0	0	0	0	1	0	0	0	14007	1838	64	5	1713	5	SECISBP2L	15	49304956	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		49304956	53226436	39	2089											
FOXB1	27023	ucsc.edu;bcgsc.ca	37	chr15	60297497	60297497	+	Missense_Mutation	SNP	T	T	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	ccgcaagcgcttcaaggtgcTtaagtccgaccacctggcgc	8	7	11	15	4	1	0	1	0	0	0	2	1	2	0	4	2	2	3	4	2	3	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr15:60297497T>C	ENST00000396057.4	+	2	814	c.335T>C	c.(334-336)cTt>cCt	p.L112P	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	112					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						TTCAAGGTGCTTAAGTCCGAC	0.697																																						.											0													16	18	17					15																	60297497		2201	4296	6497	SO:0001583	missense	27023			AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"Forkhead boxes"	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.335T>C	15.37:g.60297497T>C	ENSP00000379369:p.Leu112Pro		O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.142675	0.37825	.	.	ENSG00000171956	ENST00000396057	D	0.95756	-3.8	3.72	3.72	0.42706	.	0.611409	0.14027	U	0.346420	D	0.88603	0.6481	N	0.11131	0.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.83225	-0.0066	10	0.27785	T	0.31	.	11.3903	0.49811	0.0:0.0:0.0:1.0	.	112	Q99853	FOXB1_HUMAN	P	112	ENSP00000379369:L112P	ENSP00000379369:L112P	L	+	2	0	FOXB1	58084789	0.210000	0.23517	0.998000	0.56505	0.951000	0.60555	2.577000	0.46042	1.529000	0.49120	0.528000	0.53228	CTT		0.697	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			C	60297497	T	C	60297497	3	2	28	1	0	0	0	0	1	0	0	0	5992	1609	56	2	337	2	FOXB1	15	60297497	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10	10992541	60297497	42233895	40	2090											
SCAPER	49855	broad.mit.edu;bcgsc.ca	37	chr15	77046256	77046256	+	Missense_Mutation	SNP	G	G	T																															catcctgcgtcgttgatctaGcaattcttccttccacttcc																										TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr15:77046256G>T	ENST00000563290.1	-	15	1854	c.1759C>A	c.(1759-1761)Cta>Ata	p.L587I	SCAPER_ENST00000324767.7_Missense_Mutation_p.L587I|SCAPER_ENST00000538941.2_Missense_Mutation_p.L341I			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	587	Glu-rich.					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						CGTTGATCTAGCAATTCTTCC	0.358																																						.											0													226	212	216					15																	77046256		1860	4098	5958	SO:0001583	missense	49855			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.1759C>A	15.37:g.77046256G>T	ENSP00000454973:p.Leu587Ile		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096071	0.36952	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.23754	1.9;1.89	5.77	0.596	0.17496	.	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	N	0.05441	-0.05	0.38119	D	0.937796	P;P	0.37276	0.539;0.589	B;B	0.41988	0.372;0.284	T	0.14144	-1.0483	10	0.33940	T	0.23	.	9.9934	0.41885	0.6168:0.0:0.3832:0.0	.	608;341	Q9BY12-2;F5H7X8	.;.	I	587;341;609	ENSP00000326924:L587I;ENSP00000442190:L341I	ENSP00000303560:L609I	L	-	1	2	SCAPER	74833311	0.924000	0.31332	0.810000	0.32431	0.962000	0.63368	0.245000	0.18142	-0.135000	0.11495	0.655000	0.94253	CTA		0.358	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		T	77046256	G	T	77046256	3	4	28	1	0	0	0	0	1	0	0	0	13878	962	34	5	2515	5	SCAPER	15	77046256	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	16748759	77046256	25485136	41	2091	59	2									
SCAPER	49855	bcgsc.ca	37	chr15	77046257	77046257	+	Missense_Mutation	SNP	C	C	A																															atcctgcgtcgttgatctagCaattcttccttccacttccg																										TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr15:77046257C>A	ENST00000563290.1	-	15	1853	c.1758G>T	c.(1756-1758)ttG>ttT	p.L586F	SCAPER_ENST00000324767.7_Missense_Mutation_p.L586F|SCAPER_ENST00000538941.2_Missense_Mutation_p.L340F			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	586	Glu-rich.					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						GTTGATCTAGCAATTCTTCCT	0.363																																						.											0													225	211	215					15																	77046257		1860	4098	5958	SO:0001583	missense	49855			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.1758G>T	15.37:g.77046257C>A	ENSP00000454973:p.Leu586Phe		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	c	17.66	3.445129	0.63178	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.32753	1.48;1.44	5.77	-0.477	0.12097	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.64170	1.965	0.43263	D	0.995206	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.29397	-1.0013	10	0.44086	T	0.13	.	12.4807	0.55839	0.0:0.4418:0.0:0.5582	.	607;340	Q9BY12-2;F5H7X8	.;.	F	586;340;608	ENSP00000326924:L586F;ENSP00000442190:L340F	ENSP00000303560:L608F	L	-	3	2	SCAPER	74833312	0.939000	0.31865	0.804000	0.32291	0.951000	0.60555	0.619000	0.24388	-0.346000	0.08312	-1.057000	0.02308	TTG		0.363	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		A	77046257	C	A	77046257	3	1	28	1	0	0	0	0	1	0	0	0	13878	709	25	5	2516	5	SCAPER	15	77046257	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	1	77046257	25485135	42	2092	59	2									
TSC2	7249	bcgsc.ca	37	chr16	2131706	2131706	+	Missense_Mutation	SNP	T	T	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	ccctcatggcggctgagcgcTtcaaggagcaccgggacaca	9	5	13	14	3	2	1	2	1	0	0	2	3	2	3	2	4	2	3	2	4	1	1			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:2131706T>C	ENST00000219476.3	+	31	4351	c.3721T>C	c.(3721-3723)Ttc>Ctc	p.F1241L	TSC2_ENST00000382538.6_Missense_Mutation_p.F1149L|TSC2_ENST00000353929.4_Missense_Mutation_p.F1198L|TSC2_ENST00000568454.1_Missense_Mutation_p.F1208L|TSC2_ENST00000401874.2_Missense_Mutation_p.F1197L|TSC2_ENST00000350773.4_Missense_Mutation_p.F1241L|TSC2_ENST00000439673.2_Missense_Mutation_p.F1161L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1241					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)				GGCTGAGCGCTTCAAGGAGCA	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													74	62	66					16																	2131706		2198	4299	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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.3721T>C	16.37:g.2131706T>C	ENSP00000219476:p.Phe1241Leu		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.486907	0.44249	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.88277	-2.3;-2.3;-2.36;-2.34;-2.29	4.7	4.7	0.59300	.	0.199293	0.45126	D	0.000394	D	0.86514	0.5951	L	0.31294	0.92	0.37284	D	0.907948	B;B;B;B;B;D	0.54964	0.008;0.013;0.013;0.003;0.141;0.969	B;B;B;B;B;D	0.63381	0.019;0.043;0.043;0.043;0.049;0.914	T	0.83306	-0.0025	10	0.07175	T	0.84	-37.4738	7.2036	0.25895	0.0:0.1691:0.0:0.8309	.	1149;1161;1241;1197;1197;1241	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	L	1241;1198;1198;1161;1149;1241	ENSP00000219476:F1241L;ENSP00000248099:F1198L;ENSP00000399232:F1161L;ENSP00000371978:F1149L;ENSP00000344383:F1241L	ENSP00000219476:F1241L	F	+	1	0	TSC2	2071707	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.291000	0.51764	1.767000	0.52121	0.459000	0.35465	TTC		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		C	2131706	T	C	2131706	3	2	28	1	0	0	0	0	1	0	0	0	16603	1609	56	2	3839	2	TSC2	16	2131706	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		2131706	88223047	43	2093											
ZNF668	79759	broad.mit.edu	37	chr16	31072731	31072731	+	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	ggcttctcgtcagcctcctcAccccccgcctcgcctgcccc	2	8	7	24	3	3	0	2	0	1	0	6	0	4	0	9	1	2	1	9	1	0	1			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:31072731A>C	ENST00000538906.1	-	3	2302	c.1518T>G	c.(1516-1518)ggT>ggG	p.G506G	ZNF668_ENST00000426488.2_Silent_p.G529G|ZNF668_ENST00000300849.4_Silent_p.G506G|ZNF668_ENST00000394983.2_Silent_p.G506G|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000539836.3_Silent_p.G529G|ZNF668_ENST00000535577.1_Silent_p.G506G	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	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)|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						CAGCCTCCTCACCCCCCGCCT	0.652																																					Colon(181;1111 1980 5060 10512 25785)	.											0													45	50	48					16																	31072731		2197	4300	6497	SO:0001819	synonymous_variant	79759				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.1518T>G	16.37:g.31072731A>C			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	CCDS10701.1																																																																																				0.652	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		C	31072731	A	C	31072731	2	2	28	1	0	0	0	0	0	0	0	1	18072	146	6	5		5	ZNF668	16	31072731	Silent	SNP	A	TCGA-KM-8441-01A-11D-2310-10	28941025	31072731	59282022	44	2094											
ITGAX	3687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	31393193	31393193	+	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	gacaaattgccccagaaaacGggacacagacccccagcccg	14	2	9	16	2	0	2	0	0	0	2	0	4	0	3	5	1	3	0	5	1	3	1			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:31393193G>A	ENST00000268296.4	+	30	3578	c.3457G>A	c.(3457-3459)Ggg>Agg	p.G1153R	ITGAX_ENST00000562522.1_Missense_Mutation_p.G1153R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1153					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						CCCAGAAAACGGGACACAGAC	0.537																																						.											0													137	145	142					16																	31393193		2197	4300	6497	SO:0001583	missense	3687			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.3457G>A	16.37:g.31393193G>A	ENSP00000268296:p.Gly1153Arg		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511074	0.27036	.	.	ENSG00000140678	ENST00000268296	T	0.59772	0.24	5.41	3.45	0.39498	.	.	.	.	.	T	0.49355	0.1552	L	0.55990	1.75	0.09310	N	1	B;B	0.24258	0.022;0.1	B;B	0.15870	0.003;0.014	T	0.37753	-0.9692	9	0.36615	T	0.2	.	8.6787	0.34196	0.1788:0.0:0.8212:0.0	.	1153;338	P20702;Q8TES5	ITAX_HUMAN;.	R	1153	ENSP00000268296:G1153R	ENSP00000268296:G1153R	G	+	1	0	ITGAX	31300694	0.001000	0.12720	0.001000	0.08648	0.027000	0.11550	0.532000	0.23067	0.755000	0.32990	-0.216000	0.12614	GGG		0.537	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31393193	G	A	31393193	3	1	28	1	0	0	0	0	1	0	0	0	7889	1116	39	1	3575	1	ITGAX	16	31393193	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	320462	31393193	58961560	45	2095											
SETD6	79918	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr16	58550764	58550764	+	Missense_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	aaaaggagcccaactcccccGtgatggtgcctgctgcagac	10	6	11	14	1	0	2	0	1	0	1	1	3	1	3	4	2	5	2	4	2	3	0	rs530582932		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:58550764G>A	ENST00000219315.4	+	5	774	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Missense_Mutation_p.V218M|SETD6_ENST00000394266.4_Missense_Mutation_p.V173M			Q8TBK2	SETD6_HUMAN	SET domain containing 6	242	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						CAACTCCCCCGTGATGGTGCC	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		19309	0		0	False		,,,				2504	0					.											0													200	199	200					16																	58550764		2198	4300	6498	SO:0001583	missense	79918			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.724G>A	16.37:g.58550764G>A	ENSP00000219315:p.Val242Met		A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	G	6.139	0.393900	0.11638	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.14516	2.5;2.5;2.5	5.42	-1.46	0.08800	SET domain (2);	0.157090	0.51477	D	0.000082	T	0.02807	0.0084	N	0.01188	-0.97	0.24770	N	0.992877	B;B;B	0.22003	0.063;0.011;0.044	B;B;B	0.15484	0.013;0.006;0.002	T	0.32719	-0.9896	10	0.38643	T	0.18	-14.0441	0.105	0.00051	0.2572:0.1857:0.2408:0.3163	.	218;242;218	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	M	218;173;242	ENSP00000310082:V218M;ENSP00000377809:V173M;ENSP00000219315:V242M	ENSP00000219315:V242M	V	+	1	0	SETD6	57108265	0.810000	0.29049	0.886000	0.34754	0.715000	0.41141	1.450000	0.35134	0.037000	0.15575	-0.500000	0.04577	GTG		0.517	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		A	58550764	G	A	58550764	3	1	28	1	0	0	0	0	1	0	0	0	14135	1145	40	1	742	1	SETD6	16	58550764	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	27157571	58550764	31803989	46	2096											
HYDIN	54768	mdanderson.org	37	chr16	71025245	71025245	+	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	gagatcacactggaagctttCgtttttcttagttctttttc	7	19	7	8	1	3	1	1	0	2	1	5	3	3	2	0	1	1	3	0	1	2	7	rs1774516	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:71025245C>T	ENST00000393567.2	-	25	3990	c.3840G>A	c.(3838-3840)acG>acA	p.T1280T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280					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)				TGGAAGCTTTCGTTTTTCTTA	0.463																																						.											0													130	119	122					16																	71025245		1909	4145	6054	SO:0001819	synonymous_variant	54768			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.3840G>A	16.37:g.71025245C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71025245	C	T	71025245	2	4	28	1	0	0	0	0	0	0	0	1	7467	871	31	1		1	HYDIN	16	71025245	Silent	SNP	C	TCGA-KM-8441-01A-11D-2310-10	12474481	71025245	19329508	47	2097											
GALNS	2588	broad.mit.edu;hgsc.bcm.edu	37	chr16	88908341	88908346	+	In_Frame_Del	DEL	TGCGGA	TGCGGA	-																															gttggtggtgtagaagccatTgcggatgggtagccgtcctg																								rs118204441		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	TGCGGA	TGCGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:88908341_88908346delTGCGGA	ENST00000268695.5	-	3	366_371	c.278_283delTCCGCA	c.(277-285)atccgcaat>aat	p.IR93del	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	93	Catalytic domain.				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)		TAGAAGCCATTGCGGATGGGTAGCCG	0.617																																					GBM(129;1929 2344 25209 33204)	.											0			GRCh37	CM054741|CM950526|CM950527	GALNS	M	rs118204441																																			SO:0001651	inframe_deletion	2588			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.278_283delTCCGCA	16.37:g.88908341_88908346delTGCGGA	ENSP00000268695:p.Ile93_Arg94del		Q86VK3	In_Frame_Del	DEL	ENST00000268695.5	37	CCDS10970.1																																																																																				0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			-	88908346	TGCGGA	-	88908341	7	5	28	1	0	1	0	1	0	0	0	0	6206	1812	63	0	1333	0	GALNS	16	88908341	In_Frame_Del	DEL	TGCGGA	TCGA-KM-8441-01A-11D-2310-10	17883096	88908341	1446412	48	2098	60	2	1	20		3	2	15	N	TGCGGA_C	2.62298e-05
GALNS	2588	bcgsc.ca	37	chr16	88908342	88908347	+	In_Frame_Del	DEL	TGCGGA	TGCGGA	-																															ttggtggtgtagaagccattGcggatgggtagccgtcctgt																								rs118204441		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	TGCGGA	TGCGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:88908342_88908347delTGCGGA	ENST00000268695.5	-	3	365_370	c.277_282delTCCGCA	c.(277-282)tccgcadel	p.SA93del	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	93	Catalytic domain.				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)		AGAAGCCATTGCGGATGGGTAGCCGT	0.621																																					GBM(129;1929 2344 25209 33204)	.											0			GRCh37	CM054741|CM950526|CM950527	GALNS	M	rs118204441																																			SO:0001651	inframe_deletion	2588			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.277_282delTCCGCA	16.37:g.88908342_88908347delTGCGGA	ENSP00000268695:p.Ser93_Ala94del		Q86VK3	In_Frame_Del	DEL	ENST00000268695.5	37	CCDS10970.1																																																																																				0.621	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			-	88908347	TGCGGA	-	88908342	7	5	28	1	0	1	0	1	0	0	0	0	6206	1306	46	0	1334	0	GALNS	16	88908342	In_Frame_Del	DEL	TGCGGA	TCGA-KM-8441-01A-11D-2310-10	1	88908342	1446411	49	2099	60	2	1	20		3	2	15	N	TGCGGA_C	2.62298e-05
GALNS	2588	bcgsc.ca	37	chr16	88908355	88908355	+	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	agccattgcggatgggtagcCgtcctgtgagcagtgccgcc	6	8	15	12	3	0	1	0	1	0	0	1	2	1	2	5	2	5	2	5	2	1	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr16:88908355C>T	ENST00000268695.5	-	3	357	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	90	Catalytic domain.		R -> W (in MPS4A; severe form). {ECO:0000269|PubMed:24726177, ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283}.		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)		GATGGGTAGCCGTCCTGTGAG	0.612																																					GBM(129;1929 2344 25209 33204)	.											0													156	115	129					16																	88908355		2194	4299	6493	SO:0001583	missense	2588			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.269G>A	16.37:g.88908355C>T	ENSP00000268695:p.Arg90Gln		Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.41|17.41	3.382732|3.382732	0.61845|0.61845	.|.	.|.	ENSG00000141012|ENSG00000141012	ENST00000439266|ENST00000268695	.|D	.|0.98862	.|-5.19	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	.|0.048636	.|0.85682	.|D	.|0.000000	D|D	0.98732|0.98732	0.9574|0.9574	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.97110	.|0.958;1.0	D|D	0.99327|0.99327	1.0908|1.0908	6|10	0.87932|0.40728	D|T	0|0.16	.|.	19.199|19.199	0.93701|0.93701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|90;90	.|B2R6P1;P34059	.|.;GALNS_HUMAN	S|Q	49|90	.|ENSP00000268695:R90Q	ENSP00000402127:G49S|ENSP00000268695:R90Q	G|R	-|-	1|2	0|0	GALNS|GALNS	87435856|87435856	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.692000|0.692000	0.40212|0.40212	7.578000|7.578000	0.82498|0.82498	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.612	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			T	88908355	C	T	88908355	3	4	28	1	0	0	0	0	1	0	0	0	6206	652	23	1	1347	1	GALNS	16	88908355	Missense_Mutation	SNP	C	TCGA-KM-8441-01A-11D-2310-10	13	88908355	1446398	50	2100			1	20		3	2	15	N	TGCGGA_C	2.62298e-05
CCDC144NL	339184	mdanderson.org	37	chr17	20768730	20768730	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttttggttgtgaatgtttAccttacaacattagacacat	11	17	7	6	0	0	2	0	1	0	1	0	2	0	2	1	1	3	3	1	1	5	7	rs4605228	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr17:20768730A>G	ENST00000327925.5	-	4	783	c.664T>C	c.(664-666)Taa>Caa	p.*222Q	CCDC144NL_ENST00000539484.1_Splice_Site	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	0										large_intestine(3)|lung(3)|skin(1)	7						GTGAATGTTTACCTTACAACA	0.358													N|||	51	0.0101837	0.0333	0.0029	5008	,	,		19241	0		0.001	False		,,,				2504	0.0041					.											0													101	93	96					17																	20768730		2203	4300	6503	SO:0001578	stop_lost	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.664T>C	17.37:g.20768730A>G	ENSP00000328054:p.*222Gluext*26			Missense_Mutation	SNP	ENST00000327925.5	37	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	N	0.770	-0.766154	0.02974	.	.	ENSG00000205212	ENST00000327925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4605228;rs52789726;rs4605228	.	.	.	Q	222	.	.	X	-	1	0	CCDC144NL	20709322	0.038000	0.19896	0.003000	0.11579	0.003000	0.03518	-1.896000	0.01605	-1.871000	0.01138	-1.895000	0.00532	TAA		0.358	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		G	20768730	A	G	20768730	4	3	28	1	0	0	0	0	0	0	0	0	2779	404	14	2	5	2	CCDC144NL	17	20768730	Nonstop_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10		20768730	60426480	51	2101											
SPATA20	64847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	48629513	48629513	+	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	tgcagtgaggctgagctgggGgctggcctgcccctgcgtct	3	9	17	12	1	1	2	0	2	1	0	1	2	1	2	3	4	4	4	3	4	0	0			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr17:48629513G>T	ENST00000356488.4	+	13	1964	c.1881G>T	c.(1879-1881)ggG>ggT	p.G627G	SPATA20_ENST00000393244.3_Silent_p.G583G|SPATA20_ENST00000006658.6_Silent_p.G643G|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	627					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTGAGCTGGGGGCTGGCCTGC	0.652																																						.											0													24	29	27					17																	48629513		2203	4300	6503	SO:0001819	synonymous_variant	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1881G>T	17.37:g.48629513G>T			Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	CCDS58563.1																																																																																				0.652	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		T	48629513	G	T	48629513	2	4	28	1	0	0	0	0	0	0	0	1	15005	1219	43	5		5	SPATA20	17	48629513	Silent	SNP	G	TCGA-KM-8441-01A-11D-2310-10	27860783	48629513	32565697	52	2102											
DCC	1630	broad.mit.edu	37	chr18	50734080	50734080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggactatcttataaacTggaaggcctgaaaaaattca	16	11	8	6	0	2	2	1	2	1	0	2	4	2	4	1	3	1	0	1	3	8	4			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr18:50734080T>C	ENST00000442544.2	+	11	2370	c.1754T>C	c.(1753-1755)cTg>cCg	p.L585P	DCC_ENST00000581580.1_Missense_Mutation_p.L240P|DCC_ENST00000412726.1_Missense_Mutation_p.L433P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	585	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			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)		TCTTATAAACTGGAAGGCCTG	0.378																																						.											0													129	138	135					18																	50734080		2203	4300	6503	SO:0001583	missense	1630			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.1754T>C	18.37:g.50734080T>C	ENSP00000389140:p.Leu585Pro			Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.170752	0.38315	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.62639	0.01;0.01	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.077446	0.51477	D	0.000084	D	0.84566	0.5500	H	0.94542	3.55	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.985	D;D;D	0.76071	0.987;0.987;0.956	D	0.88867	0.3330	10	0.87932	D	0	.	15.1823	0.72968	0.0:0.0:0.0:1.0	.	433;433;585	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	P	585;518;433	ENSP00000389140:L585P;ENSP00000397322:L433P	ENSP00000304146:L518P	L	+	2	0	DCC	48988078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.587000	0.74071	2.240000	0.73641	0.528000	0.53228	CTG		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		C	50734080	T	C	50734080	3	2	28	1	0	0	0	0	1	0	0	0	4282	1580	55	2	1796	2	DCC	18	50734080	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		50734080	27343168	53	2103											
HNRNPM	4670	ucsc.edu	37	chr19	8550892	8550892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcgagcgcatgggccTgagcatggagcgcatggtgc	7	7	16	11	3	0	1	0	1	0	0	1	3	0	2	2	3	5	3	2	3	0	0			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:8550892T>C	ENST00000325495.4	+	14	1621	c.1580T>C	c.(1579-1581)cTg>cCg	p.L527P	HNRNPM_ENST00000348943.3_Missense_Mutation_p.L488P	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	527	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].			L -> P (in Ref. 1 and 3). {ECO:0000305}.	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						CGCATGGGCCTGAGCATGGAG	0.697																																						.											0													48	52	51					19																	8550892		2202	4298	6500	SO:0001583	missense	4670			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.1580T>C	19.37:g.8550892T>C	ENSP00000325376:p.Leu527Pro		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.574642	0.65878	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.13901	2.55;2.85	5.43	5.43	0.79202	.	0.290726	0.35124	N	0.003425	T	0.19127	0.0459	L	0.28274	0.84	0.58432	D	0.999994	D;D;D;D	0.58620	0.976;0.971;0.983;0.98	P;P;P;B	0.56700	0.656;0.641;0.804;0.445	T	0.03103	-1.1072	10	0.28530	T	0.3	.	14.3119	0.66422	0.0:0.0:0.0:1.0	.	367;527;488;412	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	P	527;488;412;84	ENSP00000325376:L527P;ENSP00000325732:L488P	ENSP00000325376:L527P	L	+	2	0	HNRNPM	8456892	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.076000	0.57591	2.053000	0.61076	0.482000	0.46254	CTG		0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			C	8550892	T	C	8550892	3	2	28	1	0	0	0	0	1	0	0	0	7271	1580	55	2	1634	2	HNRNPM	19	8550892	Missense_Mutation	SNP	T	TCGA-KM-8441-01A-11D-2310-10		8550892	50578091	54	2104											
MUC16	94025	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	9002616	9002616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagtccagggcttttgggGtcaggacgatgggtgcagac	7	9	16	9	1	1	1	1	0	0	1	3	3	3	2	2	5	1	2	2	5	0	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:9002616G>T	ENST00000397910.4	-	51	40403	c.40200C>A	c.(40198-40200)gaC>gaA	p.D13400E	MUC16_ENST00000380951.5_Missense_Mutation_p.D41E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13402	SEA 9. {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						GGCTTTTGGGGTCAGGACGAT	0.572																																						.											0													93	85	87					19																	9002616		2009	4180	6189	SO:0001583	missense	94025			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.40200C>A	19.37:g.9002616G>T	ENSP00000381008:p.Asp13400Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.50|12.50	1.957435|1.957435	0.34565|0.34565	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45668|.	0.89;0.89|.	2.75|2.75	-0.779|-0.779	0.10973|0.10973	SEA (1);|.	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.14661|0.14661	0.345|0.345	.|.	.|.	.|.	P;D|.	0.56035|.	0.945;0.974|.	P;D|.	0.72075|.	0.476;0.976|.	T|T	0.27331|0.27331	-1.0077|-1.0077	8|4	0.02654|.	T|.	1|.	-2.7307|-2.7307	2.3914|2.3914	0.04379|0.04379	0.2866:0.0:0.4754:0.238|0.2866:0.0:0.4754:0.238	.|.	21045;13400|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	E|N	13400;41|240	ENSP00000381008:D13400E;ENSP00000370338:D41E|.	ENSP00000370338:D41E|.	D|T	-|-	3|2	2|0	MUC16|MUC16	8863616|8863616	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-1.113000|-1.113000	0.03296|0.03296	-0.070000|-0.070000	0.12908|0.12908	-0.657000|-0.657000	0.03884|0.03884	GAC|ACC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9002616	G	T	9002616	3	4	28	1	0	0	0	0	1	0	0	0	9973	1252	44	5	3459	5	MUC16	19	9002616	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	451724	9002616	50126367	55	2105											
MUC16	94025	broad.mit.edu	37	chr19	9066166	9066167	+	Frame_Shift_Ins	INS	-	-	G																															agcagggaagggagagagctINSgggattttccagagagggag																										TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:9066166_9066167insG	ENST00000397910.4	-	3	21482_21483	c.21279_21280insC	c.(21277-21282)cccagcfs	p.S7094fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7096	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						GGGAGAGAGCTGGGATTTTCCA	0.51																																						.											0																																										SO:0001589	frameshift_variant	94025			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.21280dupC	19.37:g.9066169_9066169dupG	ENSP00000381008:p.Ser7094fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	CCDS54212.1																																																																																				0.51	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9066167	-	G	9066166	7	5	28	1	0	1	1	0	0	0	0	0	9973	1580	55	0	22571	0	MUC16	19	9066166	Frame_Shift_Ins	INS	-	TCGA-KM-8441-01A-11D-2310-10	63550	9066166	50062817	56	2106											
ZNF440	126070	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr19	11942848	11942848	+	Missense_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	gggagaaaaggcttatcaatGtaaggaatgtggaaaagcat	17	8	13	3	0	1	1	1	0	0	1	1	4	1	3	0	4	1	3	0	4	8	2	rs373425213		TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:11942848G>A	ENST00000304060.5	+	4	1021	c.857G>A	c.(856-858)tGt>tAt	p.C286Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTTATCAATGTAAGGAATGT	0.408																																						.											0													100	101	100					19																	11942848		2201	4299	6500	SO:0001583	missense	126070			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.857G>A	19.37:g.11942848G>A	ENSP00000305373:p.Cys286Tyr		Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	14.74	2.624803	0.46840	.	.	ENSG00000171295	ENST00000304060	D	0.85088	-1.94	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92443	0.7601	M	0.91612	3.225	0.36272	D	0.855235	D	0.89917	1.0	D	0.91635	0.999	D	0.93193	0.6585	9	0.87932	D	0	.	9.6088	0.39650	0.0:0.0:1.0:0.0	.	286	Q8IYI8	ZN440_HUMAN	Y	286	ENSP00000305373:C286Y	ENSP00000305373:C286Y	C	+	2	0	ZNF440	11803848	1.000000	0.71417	0.010000	0.14722	0.019000	0.09904	7.104000	0.77024	0.865000	0.35603	0.205000	0.17691	TGT		0.408	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		A	11942848	G	A	11942848	3	1	28	1	0	0	0	0	1	0	0	0	17910	1377	48	4	871	4	ZNF440	19	11942848	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10	2876682	11942848	47186135	57	2107											
SIGLEC12	89858	hgsc.bcm.edu	37	chr19	52004795	52004796	+	Frame_Shift_Ins	INS	-	-	T																															cttacatggtcccctgcccgINSgaaccagtagccatgaactg																								rs61742108|rs371016684	byFrequency	TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr19:52004795_52004796insT	ENST00000291707.3	-	1	247_248	c.192_193insA	c.(190-195)ttccggfs	p.R65fs	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	65	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCCTGCCCGGAACCAGTAGC	0.599																																						.											0										2425,1839		698,1029,405						-4.6	0		dbSNP_130	75	5278,2976		1674,1930,523	no	frameshift	SIGLEC12	NM_053003.2		2372,2959,928	A1A1,A1R,RR		36.0552,43.1285,38.4646				7703,4815				SO:0001589	frameshift_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"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"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.192_193insA	19.37:g.52004795_52004796insT	ENSP00000291707:p.Arg65fs		Q8IYH7	Frame_Shift_Ins	INS	ENST00000291707.3	37	CCDS12833.1																																																																																				0.599	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		T	52004796	-	T	52004795	7	5	28	1	0	1	1	0	0	0	0	0	14308	1115	39	0	1699	0	SIGLEC12	19	52004795	Frame_Shift_Ins	INS	-	TCGA-KM-8441-01A-11D-2310-10	40061947	52004795	7124188	58	2108											
TGM6	343641	ucsc.edu	37	chr20	2381066	2381066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcgggcggaccctggAggacctgacagaagacagca	10	5	13	13	2	0	3	0	1	0	2	2	6	1	6	3	4	1	1	3	4	1	1			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr20:2381066A>G	ENST00000202625.2	+	7	1026	c.965A>G	c.(964-966)gAg>gGg	p.E322G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.E322G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	322					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGGACCCTGGAGGACCTGACA	0.602																																						.											0													99	87	91					20																	2381066		2203	4300	6503	SO:0001583	missense	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.965A>G	20.37:g.2381066A>G	ENSP00000202625:p.Glu322Gly		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247643	0.59103	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.95412	-3.7;-3.7	4.27	4.27	0.50696	Transglutaminase-like (2);	0.000000	0.52532	D	0.000080	D	0.90177	0.6930	L	0.33093	0.98	0.36318	D	0.858098	P;P	0.37781	0.554;0.608	B;B	0.37047	0.231;0.24	D	0.89656	0.3873	10	0.36615	T	0.2	-36.2913	6.5194	0.22266	0.892:0.0:0.108:0.0	.	322;322	O95932-2;O95932	.;TGM3L_HUMAN	G	322	ENSP00000202625:E322G;ENSP00000370831:E322G	ENSP00000202625:E322G	E	+	2	0	TGM6	2329066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.803000	0.62546	1.939000	0.56221	0.379000	0.24179	GAG		0.602	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		G	2381066	A	G	2381066	3	3	28	1	0	0	0	0	1	0	0	0	15831	304	11	2	991	2	TGM6	20	2381066	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10		2381066	60644454	59	2109											
SFI1	9814	ucsc.edu	37	chr22	32009705	32009705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacccagcaggaaagtgAcgtttgagggtccccttctc	8	9	11	13	2	1	2	0	2	1	0	4	3	2	3	3	2	1	3	3	2	1	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chr22:32009705A>G	ENST00000400288.2	+	27	2965	c.2860A>G	c.(2860-2862)Acg>Gcg	p.T954A	SFI1_ENST00000540643.1_Missense_Mutation_p.T899A|SFI1_ENST00000432498.1_Missense_Mutation_p.T923A|SFI1_ENST00000443326.1_Missense_Mutation_p.T872A|SFI1_ENST00000400289.1_Missense_Mutation_p.T872A|SFI1_ENST00000443011.1_Missense_Mutation_p.T801A|SFI1_ENST00000414585.1_Missense_Mutation_p.T801A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	954					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						CAGGAAAGTGACGTTTGAGGG	0.657											OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											0													25	29	28					22																	32009705		2014	4170	6184	SO:0001583	missense	9814			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.2860A>G	22.37:g.32009705A>G	ENSP00000383145:p.Thr954Ala	829	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.865159	0.51482	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16897	2.9;2.9;2.75;2.73;2.75;2.75;2.9;2.31	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	N	0.08118	0	0.41984	D	0.990818	P;P;B;P;B	0.45044	0.849;0.837;0.143;0.72;0.231	P;B;B;P;B	0.47251	0.542;0.265;0.075;0.456;0.183	T	0.11567	-1.0582	10	0.72032	D	0.01	.	12.5779	0.56373	1.0:0.0:0.0:0.0	.	899;860;872;923;954	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	A	923;899;872;703;801;801;872;954;537	ENSP00000402679:T923A;ENSP00000443025:T899A;ENSP00000416469:T872A;ENSP00000397148:T801A;ENSP00000401199:T801A;ENSP00000383146:T872A;ENSP00000383145:T954A;ENSP00000398871:T537A	ENSP00000383145:T954A	T	+	1	0	SFI1	30339705	1.000000	0.71417	0.993000	0.49108	0.022000	0.10575	2.412000	0.44609	1.916000	0.55485	0.379000	0.24179	ACG		0.657	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		G	32009705	A	G	32009705	3	3	28	1	0	0	0	0	1	0	0	0	14156	275	10	2	2962	2	SFI1	22	32009705	Missense_Mutation	SNP	A	TCGA-KM-8441-01A-11D-2310-10		32009705	19294861	60	2110											
TKTL1	8277	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	153556232	153556232	+	Missense_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	ttaccattaaacctctggatGtcgccaccatcgtctccagt	9	12	6	14	2	2	0	0	0	2	0	5	1	2	1	5	1	2	0	5	1	3	2			TCGA-KM-8441-01A-11D-2310-10	TCGA-KM-8441-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	97c1a300-978d-4df1-9e97-ce2f92b9eff1	ea82c301-a5be-463a-9549-b493cd5c95d8	g.chrX:153556232G>A	ENST00000369915.3	+	12	1735	c.1546G>A	c.(1546-1548)Gtc>Atc	p.V516I	TKTL1_ENST00000369912.2_Missense_Mutation_p.V460I|TKTL1_ENST00000482044.1_3'UTR|TKTL1_ENST00000217905.7_Missense_Mutation_p.V256I	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	516					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)					ACCTCTGGATGTCGCCACCAT	0.473																																						.											0													214	188	197					X																	153556232		2203	4300	6503	SO:0001583	missense	8277			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.1546G>A	X.37:g.153556232G>A	ENSP00000358931:p.Val516Ile		A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	5.168	0.216538	0.09810	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.90676	-2.71;-2.71;-2.71	4.66	-4.45	0.03546	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	1.215660	0.06075	N	0.660761	T	0.78541	0.4299	N	0.16567	0.415	0.09310	N	1	B;B;B	0.17465	0.022;0.009;0.009	B;B;B	0.18263	0.021;0.014;0.014	T	0.62426	-0.6857	10	0.40728	T	0.16	0.082	1.7163	0.02902	0.3163:0.1073:0.379:0.1974	.	256;510;516	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	I	516;477;256;460	ENSP00000358931:V516I;ENSP00000217905:V256I;ENSP00000358928:V460I	ENSP00000217905:V256I	V	+	1	0	TKTL1	153209426	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.398000	0.07259	-0.970000	0.03569	0.436000	0.28706	GTC		0.473	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		A	153556232	G	A	153556232	3	1	28	1	0	0	0	0	1	0	0	0	15932	1377	48	4	1592	4	TKTL1	23	153556232	Missense_Mutation	SNP	G	TCGA-KM-8441-01A-11D-2310-10		153556232	1714328	61	2111											
MORN1	79906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	2268198	2268198	+	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	aggaaggggtggtacccaggCgggggcggccccaggaggac	8	2	21	10	2	0	0	0	0	0	0	0	3	0	3	3	10	1	1	3	10	2	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:2268198C>T	ENST00000378531.3	-	11	1301	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	376										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)		GGTACCCAGGCGGGGGCGGCC	0.682																																						.											0													20	22	21					1																	2268198		2196	4295	6491	SO:0001819	synonymous_variant	79906			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.1128G>A	1.37:g.2268198C>T			A6NKZ6|Q8WW30|Q9H852	Silent	SNP	ENST00000378531.3	37	CCDS40.1																																																																																				0.682	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		T	2268198	C	T	2268198	2	4	29	1	0	0	0	0	0	0	0	1	9708	755	27	1		1	MORN1	1	2268198	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10		2268198	246982423	1	2112											
FAM131C	348487	mdanderson.org	37	chr1	16388642	16388642	+	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	cacgttgtagttgccggggcGggatctggagtcggacaggt	6	9	18	8	4	1	0	0	0	1	0	2	3	1	3	1	6	1	3	1	6	1	3	rs79991837	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:16388642G>A	ENST00000375662.4	-	4	403	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	74										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCCGGGGCGGGATCTGGAG	0.657													G|||	33	0.00658946	0.0189	0.0072	5008	,	,		15581	0		0	False		,,,				2504	0.0031					.											0													77	78	78					1																	16388642		2054	4180	6234	SO:0001583	missense	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.220C>T	1.37:g.16388642G>A	ENSP00000364814:p.Arg74Cys		Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	CCDS41270.1	.	.	.	.	.	.	.	.	.	.	G	1.551	-0.539233	0.04053	.	.	ENSG00000185519	ENST00000375662	T	0.22336	1.96	4.64	2.3	0.28687	.	0.351936	0.26571	N	0.023632	T	0.04137	0.0115	N	0.00146	-1.995	0.28188	N	0.927865	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.48119	T	0.1	-23.3619	6.0703	0.19885	0.7858:0.0:0.2142:0.0	.	74	Q96AQ9	F131C_HUMAN	C	74	ENSP00000364814:R74C	ENSP00000364814:R74C	R	-	1	0	FAM131C	16261229	0.996000	0.38824	0.987000	0.45799	0.549000	0.35272	1.524000	0.35942	0.186000	0.20125	-0.487000	0.04747	CGC		0.657	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16388642	G	A	16388642	3	1	29	1	0	0	0	0	1	0	0	0	5441	1116	39	1	638	1	FAM131C	1	16388642	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	14120444	16388642	232861979	2	2113											
CYP4Z1	199974	mdanderson.org	37	chr1	47548113	47548113	+	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	tattcatcaccatgatgtctGagagtgttcggatgatgctg	9	14	11	7	1	3	3	2	3	1	1	4	5	3	4	1	1	1	2	1	1	1	3	rs200076743		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:47548113G>A	ENST00000334194.3	+	4	475	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	158						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						CATGATGTCTGAGAGTGTTCG	0.478																																						.											0													91	82	85					1																	47548113		2203	4300	6503	SO:0001583	missense	199974			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.472G>A	1.37:g.47548113G>A	ENSP00000334246:p.Glu158Lys		Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	CCDS545.1	.	.	.	.	.	.	.	.	.	.	-	9.782	1.175656	0.21704	.	.	ENSG00000186160	ENST00000334194	T	0.70631	-0.5	2.4	-4.81	0.03180	.	0.343662	0.18958	U	0.126486	T	0.47563	0.1452	N	0.17764	0.52	0.09310	N	1	B	0.28470	0.213	B	0.28784	0.094	T	0.32981	-0.9886	10	0.25751	T	0.34	.	10.5223	0.44927	0.0:0.2112:0.6769:0.1119	.	158	Q86W10	CP4Z1_HUMAN	K	158	ENSP00000334246:E158K	ENSP00000334246:E158K	E	+	1	0	CYP4Z1	47320700	0.001000	0.12720	0.000000	0.03702	0.089000	0.18198	0.708000	0.25719	-1.026000	0.03330	-0.673000	0.03796	GAG		0.478	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		A	47548113	G	A	47548113	3	1	29	1	0	0	0	0	1	0	0	0	4194	1291	45	4	486	4	CYP4Z1	1	47548113	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	31159471	47548113	201702508	3	2114											
FLG	2312	mdanderson.org	37	chr1	152278689	152278689	+	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	tcactgtcactgtcctggctCacactggatccctggcgcct	5	11	9	16	1	3	0	3	0	0	0	5	1	5	1	3	3	0	1	3	3	0	0	rs57672167	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:152278689C>A	ENST00000368799.1	-	3	8708	c.8673G>T	c.(8671-8673)gtG>gtT	p.V2891V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2891	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)			TGTCCTGGCTCACACTGGATC	0.552									Ichthyosis				A|||	1985	0.396366	0.3147	0.4337	5008	,	,		31121	0.6101		0.171	False		,,,				2504	0.4918					.											0								A		847,3219		243,361,1429	85	137	120		8673	-5.2	0	1	dbSNP_129	120	1434,7156		126,1182,2987	no	coding-synonymous	FLG	NM_002016.1		369,1543,4416	AA,AC,CC		16.6938,20.8313,18.0231		2891/4062	152278689	2281,10375	2033	4295	6328	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.8673G>T	1.37:g.152278689C>A			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152278689	C	A	152278689	2	1	29	1	0	0	0	0	0	0	0	1	5922	813	29	5		5	FLG	1	152278689	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10	104730576	152278689	96971932	4	2115											
FLG	2312	mdanderson.org	37	chr1	152278814	152278814	+	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	cgaccctgagtgcctggagcCgtctcctgattgttcctcat	5	12	10	14	2	2	2	1	2	1	0	4	4	3	3	5	1	2	1	5	1	0	2	rs2184952	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:152278814C>T	ENST00000368799.1	-	3	8583	c.8548G>A	c.(8548-8550)Ggc>Agc	p.G2850S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2850	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)			TGCCTGGAGCCGTCTCCTGAT	0.572									Ichthyosis																													.											0								C	SER/GLY	329,3957	110.8+/-149.0	6,317,1820	409	615	546		8548	-3.9	0	1	dbSNP_96	546	448,8152	117.0+/-176.6	0,448,3852	no	missense	FLG	NM_002016.1	56	6,765,5672	TT,TC,CC		5.2093,7.6762,6.0298	benign	2850/4062	152278814	777,12109	2143	4300	6443	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.8548G>A	1.37:g.152278814C>T	ENSP00000357789:p.Gly2850Ser		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837373	0.32513	0.076762	0.052093	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00824	5.65	3.42	-3.91	0.04168	.	.	.	.	.	T	0.00384	0.0012	M	0.63843	1.955	0.09310	N	1	B	0.28760	0.221	B	0.30855	0.121	T	0.33189	-0.9878	9	0.14656	T	0.56	-0.2526	8.0549	0.30600	0.0:0.2837:0.0:0.7163	.	2850	P20930	FILA_HUMAN	S	2850;112	ENSP00000357789:G2850S	ENSP00000357786:G112S	G	-	1	0	FLG	150545438	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.534000	0.00941	-0.915000	0.03823	0.306000	0.20318	GGC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152278814	C	T	152278814	3	4	29	1	0	0	0	0	1	0	0	0	5922	652	23	1	3641	1	FLG	1	152278814	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	125	152278814	96971807	5	2116											
SNAPIN	23557	broad.mit.edu;hgsc.bcm.edu	37	chr1	153631301	153631301	+	Frame_Shift_Del	DEL	G	G	-																															gccgcgaccttttcgccgaaGggctgctggagttcctgcga																								rs35903030		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:153631301delG	ENST00000368685.5	+	1	172	c.82delG	c.(82-84)gggfs	p.G28fs	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	28					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTCGCCGAAGGGCTGCTGGA	0.692																																						.											0													10	13	12					1																	153631301		2167	4240	6407	SO:0001589	frameshift_variant	23557			AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"Biogenesis of lysosomal organelles complex-1 subunits"	17145	protein-coding gene	gene with protein product	"snapin", "SNAP-25-binding protein", "biogenesis of lysosomal organelles complex-1, subunit 7"	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.82delG	1.37:g.153631301delG	ENSP00000357674:p.Gly28fs		D3DV56|Q5SXU8	Frame_Shift_Del	DEL	ENST00000368685.5	37	CCDS1049.1																																																																																				0.692	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		-	153631301	G	-	153631301	7	5	29	1	0	1	0	1	0	0	0	0	14839	1000	35	0	84	0	SNAPIN	1	153631301	Frame_Shift_Del	DEL	G	TCGA-KM-8442-01A-11D-2310-10	1352487	153631301	95619320	6	2117	61	2									
SNAPIN	23557	bcgsc.ca	37	chr1	153631302	153631302	+	Frame_Shift_Del	DEL	G	G	-																															ccgcgaccttttcgccgaagGgctgctggagttcctgcgac																										TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:153631302delG	ENST00000368685.5	+	1	173	c.83delG	c.(82-84)gggfs	p.G28fs	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	28					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCGCCGAAGGGCTGCTGGAG	0.692																																						.											0													10	13	12					1																	153631302		2167	4241	6408	SO:0001589	frameshift_variant	23557			AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"Biogenesis of lysosomal organelles complex-1 subunits"	17145	protein-coding gene	gene with protein product	"snapin", "SNAP-25-binding protein", "biogenesis of lysosomal organelles complex-1, subunit 7"	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.83delG	1.37:g.153631302delG	ENSP00000357674:p.Gly28fs		D3DV56|Q5SXU8	Frame_Shift_Del	DEL	ENST00000368685.5	37	CCDS1049.1																																																																																				0.692	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		-	153631302	G	-	153631302	7	5	29	1	0	1	0	1	0	0	0	0	14839	1232	43	0	85	0	SNAPIN	1	153631302	Frame_Shift_Del	DEL	G	TCGA-KM-8442-01A-11D-2310-10	1	153631302	95619319	7	2118	61	2									
CD5L	922	broad.mit.edu;mdanderson.org	37	chr1	157805633	157805633	+	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	tgccatactcactctcacacGatgccccagcatcttcatca	10	10	4	17	1	5	0	4	0	2	0	6	1	5	0	3	0	4	1	3	0	1	2	rs545632901		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:157805633G>A	ENST00000368174.4	-	3	464	c.368C>T	c.(367-369)tCg>tTg	p.S123L	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	123	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCACACGATGCCCCAGC	0.502													G|||	1	0.000199681	0	0.0014	5008	,	,		19102	0		0	False		,,,				2504	0					.											0													112	113	113					1																	157805633		2203	4300	6503	SO:0001583	missense	922			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.368C>T	1.37:g.157805633G>A	ENSP00000357156:p.Ser123Leu		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705961	0.15172	.	.	ENSG00000073754	ENST00000368174	T	0.34472	1.36	4.68	-9.36	0.00629	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	4.788200	0.00508	N	0.000173	T	0.03348	0.0097	N	0.04686	-0.185	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10451	-1.0629	10	0.19590	T	0.45	.	2.6374	0.04961	0.4919:0.0815:0.173:0.2536	.	123	O43866	CD5L_HUMAN	L	123	ENSP00000357156:S123L	ENSP00000357156:S123L	S	-	2	0	CD5L	156072257	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-3.877000	0.00344	-2.411000	0.00571	-2.010000	0.00438	TCG		0.502	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		A	157805633	G	A	157805633	3	1	29	1	0	0	0	0	1	0	0	0	3027	1059	37	1	691	1	CD5L	1	157805633	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	4174331	157805633	91444988	8	2119											
PPP1R15B	84919	broad.mit.edu	37	chr1	204379294	204379294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaagctggtctggcagAaatgggaaggtcaccttcta	12	9	11	9	0	3	1	1	0	2	1	3	2	3	2	1	4	2	2	1	4	5	3			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr1:204379294A>G	ENST00000367188.4	-	1	1625	c.1246T>C	c.(1246-1248)Tct>Cct	p.S416P	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	416					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)			GGTCTGGCAGAAATGGGAAGG	0.458																																						.											0													75	76	76					1																	204379294		2203	4300	6503	SO:0001583	missense	84919			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.1246T>C	1.37:g.204379294A>G	ENSP00000356156:p.Ser416Pro		Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555518	0.86231	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.29397	1.57	4.8	2.18	0.27775	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.559998	0.18639	N	0.135345	T	0.46347	0.1388	M	0.70595	2.14	0.09310	N	1	D	0.53462	0.96	P	0.57776	0.827	T	0.29119	-1.0022	10	0.56958	D	0.05	-8.9052	10.7169	0.46017	0.5569:0.4431:0.0:0.0	.	416	Q5SWA1	PR15B_HUMAN	P	416;326	ENSP00000356156:S416P	ENSP00000356156:S416P	S	-	1	0	PPP1R15B	202645917	0.008000	0.16893	0.043000	0.18650	0.742000	0.42306	0.674000	0.25218	0.743000	0.32719	0.533000	0.62120	TCT		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		G	204379294	A	G	204379294	3	3	29	1	0	0	0	0	1	0	0	0	12364	246	9	4	903	4	PPP1R15B	1	204379294	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	46573661	204379294	44871327	9	2120											
ELMOD3	84173	ucsc.edu	37	chr2	85604502	85604502	+	Missense_Mutation	SNP	T	T	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	cagacctgagaggcgcaggcTtccttgccctcctgcatctg	6	9	11	15	1	1	2	0	1	1	2	3	3	3	2	4	2	2	3	4	2	0	2			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:85604502T>C	ENST00000409890.2	+	11	1310	c.643T>C	c.(643-645)Ttc>Ctc	p.F215L	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Missense_Mutation_p.F215L|ELMOD3_ENST00000428955.2_Missense_Mutation_p.F215L|ELMOD3_ENST00000315658.7_Missense_Mutation_p.F215L|ELMOD3_ENST00000409344.3_Missense_Mutation_p.F215L|ELMOD3_ENST00000409013.3_Missense_Mutation_p.F215L			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	215	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGCGCAGGCTTCCTTGCCCT	0.582																																						.											0													102	80	88					2																	85604502		2203	4300	6503	SO:0001583	missense	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.643T>C	2.37:g.85604502T>C	ENSP00000386304:p.Phe215Leu		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895893	0.72639	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	5.76	5.76	0.90799	Engulfment/cell motility, ELMO (2);	0.051461	0.85682	D	0.000000	T	0.18130	0.0435	N	0.20483	0.58	0.47214	D	0.999357	P;B	0.40619	0.724;0.143	B;B	0.43155	0.41;0.134	T	0.07693	-1.0759	10	0.23302	T	0.38	-32.5968	8.55	0.33447	0.0:0.0852:0.0:0.9148	.	215;215	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	L	215	ENSP00000387139:F215L;ENSP00000386304:F215L;ENSP00000386248:F215L;ENSP00000377434:F215L;ENSP00000412692:F215L;ENSP00000318264:F215L	ENSP00000318264:F215L	F	+	1	0	ELMOD3	85458013	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.129000	0.57957	2.207000	0.71202	0.533000	0.62120	TTC		0.582	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		C	85604502	T	C	85604502	3	2	29	1	0	0	0	0	1	0	0	0	5070	1609	56	2	673	2	ELMOD3	2	85604502	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10		85604502	157594871	10	2121											
KDM3A	55818	ucsc.edu;mdanderson.org	37	chr2	86693720	86693720	+	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	tctgttccacaagcattgacTggccttcctaaggagtgctt	8	13	9	11	0	1	1	0	1	1	0	3	2	3	2	3	2	2	3	3	2	2	5			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:86693720T>G	ENST00000409556.1	+	11	1598	c.1233T>G	c.(1231-1233)acT>acG	p.T411T	KDM3A_ENST00000312912.5_Silent_p.T411T|KDM3A_ENST00000542128.1_Silent_p.T359T|KDM3A_ENST00000409064.1_Silent_p.T411T			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	411					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						AAGCATTGACTGGCCTTCCTA	0.453																																					NSCLC(96;1150 1523 6936 46253 49736)	.											0													161	148	152					2																	86693720		2203	4300	6503	SO:0001819	synonymous_variant	55818			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.1233T>G	2.37:g.86693720T>G			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																				0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		G	86693720	T	G	86693720	2	3	29	1	0	0	0	0	0	0	0	1	8126	1567	55	5		5	KDM3A	2	86693720	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10	1089218	86693720	156505653	11	2122											
RGPD2	729857	mdanderson.org	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-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	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					.											0													36	56	50					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857				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			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	29	1	0	0	0	0	0	0	0	1	13286	1606	56	2		2	RGPD2	2	88125234	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10	1431514	88125234	155074139	12	2123											
SNRNP200	23020	broad.mit.edu;bcgsc.ca	37	chr2	96953605	96953605	+	Missense_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	ctcactgggtccttacatgcGtttgtcgatcatcttgcaga	7	14	9	11	2	3	1	2	0	1	1	5	2	4	1	1	1	3	2	1	1	1	3			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:96953605G>A	ENST00000323853.5	-	25	3438	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1121	SEC63 1.				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						CCTTACATGCGTTTGTCGATC	0.547																																						.											0													163	140	148					2																	96953605		2203	4300	6503	SO:0001583	missense	23020			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.3361C>T	2.37:g.96953605G>A	ENSP00000317123:p.Arg1121Cys		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192973	0.78902	.	.	ENSG00000144028	ENST00000323853	T	0.65732	-0.17	5.3	5.3	0.74995	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88996	0.3418	10	0.87932	D	0	.	12.8995	0.58117	0.0:0.0:0.8373:0.1627	.	1121	O75643	U520_HUMAN	C	1121	ENSP00000317123:R1121C	ENSP00000317123:R1121C	R	-	1	0	SNRNP200	96317332	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.817000	0.55668	2.755000	0.94549	0.561000	0.74099	CGC		0.547	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		A	96953605	G	A	96953605	3	1	29	1	0	0	0	0	1	0	0	0	14852	1145	40	1	3133	1	SNRNP200	2	96953605	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	8828371	96953605	146245768	13	2124											
POTEE	445582	mdanderson.org	37	chr2	132021629	132021629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactgtgcccatctatgaGgggaatgccctcccccatgc	8	8	9	16	0	1	1	0	1	1	0	2	2	2	2	4	2	3	0	4	2	2	1	rs7424029		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:132021629G>T	ENST00000356920.5	+	15	2695	c.2601G>T	c.(2599-2601)gaG>gaT	p.E867D	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	867	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCATCTATGAGGGGAATGCCC	0.617																																						.											0													33	34	34					2																	132021629		2168	4216	6384	SO:0001583	missense	445582			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.2601G>T	2.37:g.132021629G>T	ENSP00000439189:p.Glu867Asp		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.447	0.641908	0.14451	.	.	ENSG00000188219	ENST00000356920	D	0.94497	-3.44	.	.	.	.	.	.	.	.	D	0.91764	0.7395	M	0.79805	2.47	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84711	0.0734	8	0.48119	T	0.1	.	2.6649	0.05041	0.4877:0.0:0.5123:0.0	rs7424029	867	Q6S8J3	POTEE_HUMAN	D	867	ENSP00000439189:E867D	ENSP00000439189:E867D	E	+	3	2	AC131180.1	131738099	1.000000	0.71417	0.130000	0.21974	0.132000	0.20833	2.624000	0.46444	0.119000	0.18210	0.121000	0.15741	GAG		0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		T	132021629	G	T	132021629	3	4	29	1	0	0	0	0	1	0	0	0	12264	991	35	5	2659	5	POTEE	2	132021629	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	35068024	132021629	111177744	14	2125											
SPEG	10290	mdanderson.org	37	chr2	220350135	220350135	+	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	cggaaggacaaggggttatcGccaccaaacctctctgccag	11	6	11	13	2	1	0	0	0	1	0	3	2	1	2	4	4	2	1	4	4	4	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:220350135G>T	ENST00000312358.7	+	31	7809	c.7677G>T	c.(7675-7677)tcG>tcT	p.S2559S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2559					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)		AGGGGTTATCGCCACCAAACC	0.617																																						.											0													56	63	61					2																	220350135		2123	4220	6343	SO:0001819	synonymous_variant	10290			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.7677G>T	2.37:g.220350135G>T			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.617	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220350135	G	T	220350135	2	4	29	1	0	0	0	0	0	0	0	1	15035	1074	38	5		5	SPEG	2	220350135	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10	88328506	220350135	22849238	15	2126											
PRR21	643905	mdanderson.org	37	chr2	240982080	240982080	+	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	cgtgggtgaagaggcatggaCgaagggccgtgggtgaagag	10	5	21	5	3	0	4	0	2	0	2	0	6	0	5	1	5	0	1	1	5	3	0	rs143810849	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr2:240982080C>G	ENST00000408934.1	-	1	319	c.320G>C	c.(319-321)cGt>cCt	p.R107P		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	107	Pro-rich.							p.R107P(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						GAGGCATGGACGAAGGGCCGT	0.617													-|||	1250	0.249601	0.2201	0.2608	5008	,	,		21906	0.3284		0.2913	False		,,,				2504	0.1575					.											2	Substitution - Missense(2)	prostate(2)											32	33	33					2																	240982080		2124	4240	6364	SO:0001583	missense	643905			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.320G>C	2.37:g.240982080C>G	ENSP00000386166:p.Arg107Pro			Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	-	2.575	-0.298847	0.05532	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13657	2.57;2.57	1.79	-3.59	0.04583	.	.	.	.	.	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.39121	-0.9629	9	0.26408	T	0.33	.	5.3415	0.15986	0.0:0.5523:0.1504:0.2974	.	107	Q8WXC7	PRR21_HUMAN	P	107	ENSP00000386166:R107P;ENSP00000418240:R107P	ENSP00000386166:R107P	R	-	2	0	PRR21	240630753	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.287000	0.00134	-1.262000	0.02459	-1.689000	0.00729	CGT		0.617	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982080	C	G	240982080	3	3	29	1	0	0	0	0	1	0	0	0	12592	536	19	5	852	5	PRR21	2	240982080	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	20631945	240982080	2217293	16	2127											
ANO10	55129	broad.mit.edu	37	chr3	43607195	43607195	+	Frame_Shift_Del	DEL	A	A	-																															aaaggcaatatagaagagtgAggcaaagcaattgaggaagt																										TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr3:43607195delA	ENST00000292246.3	-	8	1413	c.1243delT	c.(1243-1245)tcafs	p.S415fs	ANO10_ENST00000414522.2_Frame_Shift_Del_p.S415fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.S225fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.S349fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.S304fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	415					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TAGAAGAGTGAGGCAAAGCAA	0.333																																						.											0													41	39	40					3																	43607195		2200	4293	6493	SO:0001589	frameshift_variant	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1243delT	3.37:g.43607195delA	ENSP00000292246:p.Ser415fs		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Frame_Shift_Del	DEL	ENST00000292246.3	37	CCDS2710.2																																																																																				0.333	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		-	43607195	A	-	43607195	7	5	29	1	0	1	0	1	0	0	0	0	696	304	11	0	763	0	ANO10	3	43607195	Frame_Shift_Del	DEL	A	TCGA-KM-8442-01A-11D-2310-10		43607195	154415235	17	2128											
FLNB	2317	broad.mit.edu	37	chr3	58067357	58067357	+	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	caccatgtcattatcctaggTcatcactcctgaagaaatca	13	11	5	12	0	4	2	4	1	0	1	6	2	6	2	3	1	0	0	3	1	4	2			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr3:58067357T>C	ENST00000295956.4	+	4	806	c.641T>C	c.(640-642)gTc>gCc	p.V214A	FLNB_ENST00000357272.4_Splice_Site_p.V214A|FLNB_ENST00000429972.2_Splice_Site_p.V214A|FLNB_ENST00000490882.1_Splice_Site_p.V214A|FLNB_ENST00000493452.1_Splice_Site_p.V45A|FLNB_ENST00000358537.3_Splice_Site_p.V214A|FLNB_ENST00000348383.5_Splice_Site_p.V214A|FLNB_ENST00000419752.2_Splice_Site_p.V45A	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	214	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TTATCCTAGGTCATCACTCCT	0.458																																						.											0													136	129	131					3																	58067357		2203	4300	6503	SO:0001630	splice_region_variant	2317			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.640-1T>C	3.37:g.58067357T>C			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	.	.	.	.	.	.	.	.	.	.	T	33	5.207103	0.95033	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.86	5.86	0.93980	Calponin homology domain (5);	0.051658	0.85682	D	0.000000	D	0.98015	0.9346	M	0.88105	2.93	0.80722	D	1	P;D;P;P;P;P	0.69078	0.918;0.997;0.667;0.936;0.934;0.934	P;D;B;P;P;P	0.77004	0.703;0.989;0.24;0.72;0.804;0.804	D	0.98914	1.0781	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	214;214;45;45;214;214	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	A	214;214;214;214;214;214;45;45	ENSP00000295956:V214A;ENSP00000420213:V214A;ENSP00000351339:V214A;ENSP00000415599:V214A;ENSP00000232447:V214A;ENSP00000349819:V214A;ENSP00000418510:V45A;ENSP00000414532:V45A	ENSP00000295956:V214A	V	+	2	0	FLNB	58042397	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.954000	0.87848	2.367000	0.80283	0.528000	0.53228	GTC		0.458	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Missense_Mutation	C	58067357	T	C	58067357	5	2	29	1	0	0	0	0	0	0	1	0	5934	1681	58	2	655	2	FLNB	3	58067357	Splice_Site	SNP	T	TCGA-KM-8442-01A-11D-2310-10	14460162	58067357	139955073	18	2129											
CRIPAK	285464	mdanderson.org	37	chr4	1389161	1389161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacatgtgccgatgtggAgtgcccgcctgctcacacgt	6	9	12	14	3	2	0	2	0	0	0	2	2	2	1	3	1	3	2	3	1	0	0	rs71614973	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr4:1389161A>G	ENST00000324803.4	+	1	3822	c.862A>G	c.(862-864)Agt>Ggt	p.S288G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	288					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGATGTGGAGTGCCCGCCT	0.687													A|||	1051	0.209864	0.1362	0.2983	5008	,	,		13955	0.0536		0.3748	False		,,,				2504	0.2382					.											0													127	128	128					4																	1389161		2202	4298	6500	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.862A>G	4.37:g.1389161A>G	ENSP00000323978:p.Ser288Gly		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	A	1.586	-0.530434	0.04112	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.21734	1.99	0.815	-1.63	0.08345	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.39761	-0.9598	8	0.07175	T	0.84	.	2.8991	0.05700	0.2283:0.0:0.4427:0.329	.	288	Q8N1N5	CRPAK_HUMAN	G	288;230	ENSP00000323978:S288G	ENSP00000323978:S288G	S	+	1	0	CRIPAK	1379161	0.046000	0.20272	0.000000	0.03702	0.001000	0.01503	-1.350000	0.02624	-1.564000	0.01678	-0.530000	0.04314	AGT		0.687	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1389161	A	G	1389161	3	3	29	1	0	0	0	0	1	0	0	0	3877	304	11	2	864	2	CRIPAK	4	1389161	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10		1389161	189765115	19	2130											
CYP4V2	285440	mdanderson.org	37	chr4	187113041	187113041	+	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	tgtggggcgcggcgagtgccCtttccctggccggcgccagt	2	8	17	14	5	0	0	0	0	0	0	1	1	1	0	4	5	1	0	4	5	0	1	rs1055138	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr4:187113041C>G	ENST00000378802.4	+	1	368	c.64C>G	c.(64-66)Ctt>Gtt	p.L22V	AC110771.1_ENST00000596414.1_5'Flank	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	22			L -> V (in dbSNP:rs1055138). {ECO:0000269|Ref.3}.		fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		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;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GGCGAGTGCCCTTTCCCTGGC	0.731													G|||	2052	0.409744	0.4327	0.438	5008	,	,		10614	0.2748		0.5239	False		,,,				2504	0.3804					.											0								G	VAL/LEU	1786,2542		418,950,796	14	15	15		64	0.7	0	4	dbSNP_86	15	4174,4354		1064,2046,1154	yes	missense	CYP4V2	NM_207352.3	32	1482,2996,1950	GG,GC,CC		48.9447,41.2662,46.3597	possibly-damaging	22/526	187113041	5960,6896	2164	4264	6428	SO:0001583	missense	285440			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.64C>G	4.37:g.187113041C>G	ENSP00000368079:p.Leu22Val		B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	CCDS34119.1	958	0.43864468864468864	211	0.42886178861788615	171	0.4723756906077348	169	0.29545454545454547	407	0.5369393139841688	G	0.008	-1.922890	0.00498	0.412662	0.489447	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.65916	-0.18	3.89	0.679	0.17975	.	1.335020	0.05117	N	0.489936	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42137	-0.9469	9	0.14656	T	0.56	.	7.1201	0.25440	0.1277:0.4839:0.3883:0.0	rs1055138;rs3087670;rs3175018;rs60467258	22;22	Q6UWV9;Q6ZWL3	.;CP4V2_HUMAN	V	22	ENSP00000368079:L22V	ENSP00000274118:L22V	L	+	1	0	CYP4V2	187350035	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-1.333000	0.02667	-0.003000	0.14444	-0.444000	0.05651	CTT		0.731	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		G	187113041	C	G	187113041	3	3	29	1	0	0	0	0	1	0	0	0	4192	681	24	5	66	5	CYP4V2	4	187113041	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	185723880	187113041	4041235	20	2131											
PRDM9	56979	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	23521146	23521146	+	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	ttaaagggaatgcccaaggcGtcattcagtaatgaatctag	14	10	10	7	1	3	1	2	1	1	0	3	2	3	2	1	2	1	1	1	2	7	4			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr5:23521146G>A	ENST00000296682.3	+	6	548	c.366G>A	c.(364-366)gcG>gcA	p.A122A		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	122					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)	p.A122A(1)		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						TGCCCAAGGCGTCATTCAGTA	0.398										HNSCC(3;0.000094)																												.											1	Substitution - coding silent(1)	endometrium(1)											81	77	78					5																	23521146		1874	4107	5981	SO:0001819	synonymous_variant	56979			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.366G>A	5.37:g.23521146G>A			B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.398	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23521146	G	A	23521146	2	1	29	1	0	0	0	0	0	0	0	1	12463	1132	40	1		1	PRDM9	5	23521146	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10		23521146	157394114	21	2132											
ELOVL7	79993	ucsc.edu	37	chr5	60067915	60067915	+	Missense_Mutation	SNP	T	T	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	gaggagccaatcttcaactcTtggatctaagagaaaaacaa	17	8	8	8	0	4	1	1	0	3	1	4	5	4	3	1	2	3	0	1	2	6	3			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr5:60067915T>C	ENST00000508821.1	-	4	384	c.70A>G	c.(70-72)Aga>Gga	p.R24G	ELOVL7_ENST00000438340.1_Missense_Mutation_p.R24G|ELOVL7_ENST00000505959.1_Missense_Mutation_p.R11G|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R24G	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	24					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|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)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TCTTCAACTCTTGGATCTAAG	0.443																																						.											0													41	38	39					5																	60067915		2203	4300	6503	SO:0001583	missense	79993			AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.70A>G	5.37:g.60067915T>C	ENSP00000424123:p.Arg24Gly		Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473027	0.63737	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T	0.26957	1.74;1.74;1.74;1.7	5.73	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	H	0.94345	3.525	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72253	-0.4347	10	0.87932	D	0	-17.6806	12.9079	0.58162	0.0:0.0:0.3725:0.6275	.	11;24	D6RHD0;A1L3X0	.;ELOV7_HUMAN	G	24;24;24;11;24;24	ENSP00000424123:R24G;ENSP00000411255:R24G;ENSP00000402634:R24G;ENSP00000421043:R11G	ENSP00000402634:R24G	R	-	1	2	ELOVL7	60103672	0.988000	0.35896	0.994000	0.49952	0.997000	0.91878	1.989000	0.40707	1.062000	0.40625	0.454000	0.30748	AGA		0.443	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			C	60067915	T	C	60067915	3	2	29	1	0	0	0	0	1	0	0	0	5079	1617	56	2	799	2	ELOVL7	5	60067915	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	36546769	60067915	120847345	22	2133											
NEDD9	4739	broad.mit.edu;mdanderson.org	37	chr6	11185614	11185614	+	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	gcagtcacctgccgtgtcagCgtgtctccaatgaacaccag	9	8	10	14	2	3	1	2	1	1	0	4	1	3	1	4	0	3	1	4	0	2	0			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:11185614C>T	ENST00000379446.5	-	7	2452	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	NEDD9_ENST00000504387.1_Silent_p.T762T|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	762					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCGTGTCAGCGTGTCTCCAA	0.537																																						.											0													189	156	167					6																	11185614		2203	4300	6503	SO:0001819	synonymous_variant	4739			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2286G>A	6.37:g.11185614C>T			A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	CCDS4520.1																																																																																				0.537	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		T	11185614	C	T	11185614	2	4	29	1	0	0	0	0	0	0	0	1	10313	755	27	1		1	NEDD9	6	11185614	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10		11185614	159929453	23	2134											
HLA-DQA2	3118	mdanderson.org	37	chr6	32709265	32709266	+	Missense_Mutation	DNP	TG	TG	CA																															ctgggggccctcgccctgacTgccgtgatgagcccctgtgg																								rs201984640|rs200986700	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:32709265_32709266TG>CA	ENST00000374940.3	+	1	147_148	c.45_46TG>CA	c.(43-48)acTGcc>acCAcc	p.A16T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	16					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)|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)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TCGCCCTGACTGCCGTGATGAG	0.505																																						.											0																																										SO:0001583	missense	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	Exception_encountered	6.37:g.32709265_32709266delinsCA	ENSP00000364076:p.Ala16Thr		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	DNP	ENST00000374940.3	37	CCDS4753.1																																																																																				0.505	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		CA	32709266	TG	CA	32709265	3	2	29	1	0	0	0	0	1	0	0	0	7205	1567	55	2	47	2	HLA-DQA2	6	32709265	Missense_Mutation	DNP	TG	TCGA-KM-8442-01A-11D-2310-10	21523651	32709265	138405802	24	2135											
TTBK1	84630	mdanderson.org	37	chr6	43252029	43252029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcgcggccccagcatTggacacagccatcaccagca	10	4	10	17	2	1	0	1	0	0	0	1	1	1	1	5	3	3	2	5	3	0	1	rs3800298	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:43252029T>C	ENST00000259750.4	+	14	3634	c.3551T>C	c.(3550-3552)tTg>tCg	p.L1184S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1184			L -> S (in dbSNP:rs3800298). {ECO:0000269|PubMed:17344846}.		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)			GCCCCAGCATTGGACACAGCC	0.682													C|||	1827	0.364816	0.5628	0.2378	5008	,	,		16925	0.3849		0.2515	False		,,,				2504	0.2832					.											0								C	SER/LEU	1274,1956		249,776,590	12	14	13		3551	4.8	0.2	6	dbSNP_107	13	1385,5175		125,1135,2020	yes	missense	TTBK1	NM_032538.1	145	374,1911,2610	CC,CT,TT		21.1128,39.4427,27.1604	benign	1184/1322	43252029	2659,7131	1615	3280	4895	SO:0001583	missense	84630			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.3551T>C	6.37:g.43252029T>C	ENSP00000259750:p.Leu1184Ser		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	773	0.35393772893772896	282	0.573170731707317	94	0.2596685082872928	207	0.3618881118881119	190	0.25065963060686014	C	0.003	-2.531159	0.00145	0.394427	0.211128	ENSG00000146216	ENST00000259750	T	0.51574	0.7	4.77	4.77	0.60923	.	0.586807	0.15128	N	0.278991	T	0.04724	0.0128	N	0.00621	-1.32	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.08381	T	0.77	.	7.4137	0.27032	0.0:0.808:0.0:0.192	rs3800298;rs58957853;rs3800298	1184	Q5TCY1	TTBK1_HUMAN	S	1184	ENSP00000259750:L1184S	ENSP00000259750:L1184S	L	+	2	0	TTBK1	43360007	0.001000	0.12720	0.242000	0.24170	0.258000	0.26162	1.185000	0.32065	1.258000	0.44101	-0.215000	0.12644	TTG		0.682	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			C	43252029	T	C	43252029	3	2	29	1	0	0	0	0	1	0	0	0	16673	1821	63	4	3601	4	TTBK1	6	43252029	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	10542764	43252029	127863038	25	2136											
ARMC2	84071	ucsc.edu;bcgsc.ca	37	chr6	109232139	109232139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatcttcttaatgtctgcaAacttatatttaaaattagca	15	16	4	6	0	3	0	0	0	3	0	3	1	3	0	0	0	3	2	0	0	8	7			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:109232139A>G	ENST00000392644.4	+	9	1229	c.1061A>G	c.(1060-1062)aAa>aGa	p.K354R	ARMC2_ENST00000368972.3_Missense_Mutation_p.K189R	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	354										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)		AATGTCTGCAAACTTATATTT	0.328																																						.											0													41	42	42					6																	109232139		2201	4294	6495	SO:0001583	missense	84071			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.1061A>G	6.37:g.109232139A>G	ENSP00000376417:p.Lys354Arg		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208748	0.79240	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.46819	0.86;0.86	5.19	5.19	0.71726	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.83012	2.62	0.49915	D	0.999838	D	0.69078	0.997	P	0.59546	0.859	T	0.67313	-0.5702	10	0.56958	D	0.05	.	15.0498	0.71858	1.0:0.0:0.0:0.0	.	354	Q8NEN0	ARMC2_HUMAN	R	189;354	ENSP00000357968:K189R;ENSP00000376417:K354R	ENSP00000357968:K189R	K	+	2	0	ARMC2	109338832	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.658000	0.74407	1.939000	0.56221	0.482000	0.46254	AAA		0.328	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		G	109232139	A	G	109232139	3	3	29	1	0	0	0	0	1	0	0	0	951	14	1	4	1091	4	ARMC2	6	109232139	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	65980110	109232139	61882928	26	2137											
FRK	2444	hgsc.bcm.edu	37	chr6	116265504	116265504	+	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	gatctctgtgaatgtagttcCgagactccagataggccatt	10	12	10	9	1	1	3	0	1	1	2	4	5	3	3	3	1	0	2	3	1	3	4	rs190064484	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:116265504C>T	ENST00000606080.1	-	6	1489	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	FRK_ENST00000538210.1_Missense_Mutation_p.R206Q	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	348	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AATGTAGTTCCGAGACTCCAG	0.438													C|||	2	0.000399361	0	0	5008	,	,		15988	0.002		0	False		,,,				2504	0					.											0													93	90	91					6																	116265504		2203	4300	6503	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1043G>A	6.37:g.116265504C>T	ENSP00000476145:p.Arg348Gln		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.843	0.942704	0.18281	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82803	-1.65;-1.65	5.6	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.113303	0.38436	N	0.001691	T	0.41282	0.1152	N	0.05592	-0.015	0.33879	D	0.635881	B	0.02656	0.0	B	0.01281	0.0	T	0.09314	-1.0680	10	0.05351	T	0.99	.	11.351	0.49587	0.0:0.0719:0.0:0.9281	.	348	P42685	FRK_HUMAN	Q	348;206	ENSP00000357615:R348Q;ENSP00000443075:R206Q	ENSP00000357615:R348Q	R	-	2	0	FRK	116372197	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.280000	0.72626	0.930000	0.37217	-0.423000	0.05987	CGG		0.438	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		T	116265504	C	T	116265504	3	4	29	1	0	0	0	0	1	0	0	0	6048	652	23	1	486	1	FRK	6	116265504	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	7033365	116265504	54849563	27	2138											
PHF10	55274	mdanderson.org	37	chr6	170115851	170115851	+	Missense_Mutation	SNP	G	G	A																															tctttcttccatgcgttcccGgtttaagttgctattaaatt																								rs77919800		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:170115851G>A	ENST00000339209.4	-	6	769	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	PHF10_ENST00000366780.4_Missense_Mutation_p.R214W|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	216	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		ATGCGTTCCCGGTTTAAGTTG	0.358																																						.											0													120	123	122					6																	170115851		2203	4300	6503	SO:0001583	missense	55274			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.646C>T	6.37:g.170115851G>A	ENSP00000341805:p.Arg216Trp		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501168	0.85176	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.32272	1.46;1.46	5.91	5.91	0.95273	.	0.052032	0.85682	D	0.000000	T	0.49321	0.1550	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	0.996;1.0;0.999	P;D;P	0.85130	0.702;0.997;0.794	T	0.46679	-0.9174	10	0.87932	D	0	-20.118	19.2865	0.94077	0.0:0.0:1.0:0.0	.	128;214;216	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	W	214;216	ENSP00000355743:R214W;ENSP00000341805:R216W	ENSP00000341805:R216W	R	-	1	2	PHF10	169857776	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.685000	0.54678	2.802000	0.96397	0.655000	0.94253	CGG		0.358	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		A	170115851	G	A	170115851	3	1	29	1	0	0	0	0	1	0	0	0	11821	1115	39	1	878	1	PHF10	6	170115851	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	53850347	170115851	999216	28	2139	62	4									
PHF10	55274	mdanderson.org	37	chr6	170115857	170115857	+	Missense_Mutation	SNP	A	A	C																															ttccatgcgttcccggtttaAgttgctattaaattctgctg																								rs144595699		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:170115857A>C	ENST00000339209.4	-	6	763	c.640T>G	c.(640-642)Tta>Gta	p.L214V	PHF10_ENST00000366780.4_Missense_Mutation_p.L212V|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	214	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TCCCGGTTTAAGTTGCTATTA	0.373																																						.											0																																										SO:0001583	missense	55274			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.640T>G	6.37:g.170115857A>C	ENSP00000341805:p.Leu214Val		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910262	0.72983	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.32272	1.46;1.46	5.91	-0.532	0.11890	.	0.058333	0.64402	D	0.000001	T	0.18002	0.0432	M	0.65975	2.015	0.42139	D	0.991505	P;P;P	0.52316	0.894;0.739;0.952	B;B;B	0.43990	0.438;0.225;0.437	T	0.07028	-1.0794	10	0.62326	D	0.03	-9.8963	9.7614	0.40534	0.6235:0.0:0.3765:0.0	.	126;212;214	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	V	212;214	ENSP00000355743:L212V;ENSP00000341805:L214V	ENSP00000341805:L214V	L	-	1	2	PHF10	169857782	0.998000	0.40836	0.488000	0.27440	0.991000	0.79684	0.855000	0.27805	-0.303000	0.08856	0.533000	0.62120	TTA		0.373	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		C	170115857	A	C	170115857	3	2	29	1	0	0	0	0	1	0	0	0	11821	69	3	5	884	5	PHF10	6	170115857	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	6	170115857	999210	29	2140	62	4									
PHF10	55274	mdanderson.org	37	chr6	170115864	170115864	+	Silent	SNP	A	A	G																															cgttcccggtttaagttgctAttaaattctgctgctttttt																										TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:170115864A>G	ENST00000339209.4	-	6	756	c.633T>C	c.(631-633)aaT>aaC	p.N211N	PHF10_ENST00000366780.4_Silent_p.N209N|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	211	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTAAGTTGCTATTAAATTCTG	0.363																																						.											0													111	113	112					6																	170115864		2203	4300	6503	SO:0001819	synonymous_variant	55274			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.633T>C	6.37:g.170115864A>G			Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	ENST00000339209.4	37	CCDS5308.2																																																																																				0.363	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		G	170115864	A	G	170115864	2	3	29	1	0	0	0	0	0	0	0	1	11821	446	16	4		4	PHF10	6	170115864	Silent	SNP	A	TCGA-KM-8442-01A-11D-2310-10	7	170115864	999203	30	2141	62	4									
PHF10	55274	mdanderson.org	37	chr6	170115873	170115873	+	Silent	SNP	T	T	A																															tttaagttgctattaaattcTgctgcttttttggcagcttt																										TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr6:170115873T>A	ENST00000339209.4	-	6	747	c.624A>T	c.(622-624)gcA>gcT	p.A208A	PHF10_ENST00000366780.4_Silent_p.A206A|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	208	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TATTAAATTCTGCTGCTTTTT	0.363																																						.											0													106	108	108					6																	170115873		2203	4300	6503	SO:0001819	synonymous_variant	55274			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.624A>T	6.37:g.170115873T>A			Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	ENST00000339209.4	37	CCDS5308.2																																																																																				0.363	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		A	170115873	T	A	170115873	2	1	29	1	0	0	0	0	0	0	0	1	11821	1567	55	5		5	PHF10	6	170115873	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10	9	170115873	999194	31	2142	62	4									
CREB5	9586	broad.mit.edu	37	chr7	28848967	28848967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgctgcagacagaagaggaAggtctgggtgatgtcattgg	10	8	16	7	1	2	4	1	1	1	3	2	5	2	5	1	4	1	2	1	4	2	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:28848967A>G	ENST00000357727.2	+	9	1580	c.1190A>G	c.(1189-1191)aAg>aGg	p.K397R	CREB5_ENST00000396298.2_Missense_Mutation_p.K258R|CREB5_ENST00000396300.2_Missense_Mutation_p.K390R|CREB5_ENST00000396299.2_Missense_Mutation_p.K364R|CREB5_ENST00000409603.1_Missense_Mutation_p.K364R	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	397	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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						CAGAAGAGGAAGGTCTGGGTG	0.592																																						.											0													45	51	49					7																	28848967		2203	4300	6503	SO:0001583	missense	9586			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.1190A>G	7.37:g.28848967A>G	ENSP00000350359:p.Lys397Arg		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	A	34	5.314023	0.95655	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.99	5.99	0.97316	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.53617	1.68	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	T	0.71679	-0.4520	10	0.87932	D	0	-28.5584	16.4943	0.84223	1.0:0.0:0.0:0.0	.	258;397	B4DU13;Q02930	.;CREB5_HUMAN	R	364;397;390;364;258	ENSP00000379593:K364R;ENSP00000350359:K397R;ENSP00000379594:K390R;ENSP00000387197:K364R;ENSP00000379592:K258R	ENSP00000350359:K397R	K	+	2	0	CREB5	28815492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	AAG		0.592	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		G	28848967	A	G	28848967	3	3	29	1	0	0	0	0	1	0	0	0	3860	72	3	2	1275	2	CREB5	7	28848967	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10		28848967	130289696	32	2143											
AVL9	23080	bcgsc.ca	37	chr7	32591845	32591845	+	Missense_Mutation	SNP	T	T	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	aatctatattttataggagcTttatgaacatatgaatagtt	15	17	6	3	0	1	2	0	2	1	0	1	3	1	3	0	1	2	2	0	1	10	10			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:32591845T>C	ENST00000318709.4	+	6	688	c.467T>C	c.(466-468)cTt>cCt	p.L156P	AVL9_ENST00000404479.1_Missense_Mutation_p.L156P|AVL9_ENST00000409301.1_Missense_Mutation_p.L156P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	156					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTATAGGAGCTTTATGAACAT	0.313																																						.											0													38	40	39					7																	32591845		2202	4298	6500	SO:0001583	missense	23080			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.467T>C	7.37:g.32591845T>C	ENSP00000315568:p.Leu156Pro		Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208264	0.79240	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73864	-0.3848	10	0.54805	T	0.06	-14.4166	16.1864	0.81955	0.0:0.0:0.0:1.0	.	156;156	Q8N6Z3;Q8NBF6	.;AVL9_HUMAN	P	156;156;156;156;87	ENSP00000315568:L156P;ENSP00000387011:L156P;ENSP00000385242:L156P;ENSP00000395134:L87P	ENSP00000315568:L156P	L	+	2	0	AVL9	32558370	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	7.467000	0.80930	2.281000	0.76405	0.528000	0.53228	CTT		0.313	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		C	32591845	T	C	32591845	3	2	29	1	0	0	0	0	1	0	0	0	1228	1609	56	2	489	2	AVL9	7	32591845	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	3742878	32591845	126546818	33	2144											
ZAN	7455	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	100346036	100346036	+	RNA	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	atggtggacactgggccctcGgacataaaaatggacccgtc	11	7	12	11	2	0	0	0	0	0	0	2	3	0	3	2	5	0	0	2	5	3	1	rs574016648		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:100346036G>A	ENST00000348028.3	+	0	1357				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_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)			CTGGGCCCTCGGACATAAAAA	0.567													G|||	1	0.000199681	0	0.0014	5008	,	,		17018	0		0	False		,,,				2504	0					.											0													51	52	52					7																	100346036		1906	4111	6017			7455			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.100346036G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	16.16	3.045328	0.55110	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02140	4.43;4.43;4.43	4.81	2.99	0.34606	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.38605	N	0.001638	T	0.06826	0.0174	L	0.50847	1.595	0.20821	N	0.999845	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.08027	-1.0742	10	0.72032	D	0.01	.	6.3795	0.21525	0.2137:0.0:0.7863:0.0	.	398;398	F5H0T8;Q9Y493	.;ZAN_HUMAN	R	398	ENSP00000445943:G398R;ENSP00000445091:G398R;ENSP00000444427:G398R	ENSP00000423579:G398R	G	+	1	0	ZAN	100183972	0.009000	0.17119	0.103000	0.21229	0.027000	0.11550	1.225000	0.32551	1.340000	0.45581	0.555000	0.69702	GGA		0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100346036	G	A	100346036	1	1	29	0	1	0	0	0	0	0	0	0	17510	1117	39	1		1	ZAN	7	100346036	RNA	SNP	G	TCGA-KM-8442-01A-11D-2310-10	67754191	100346036	58792627	34	2145											
KCNH2	3757	broad.mit.edu	37	chr7	150642468	150642469	+	Frame_Shift_Ins	INS	-	-	G																															cccactaactgcccgggtccINSgagccgtgtctgtgcagggg																										TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:150642468_150642469insG	ENST00000262186.5	-	15	3865_3866	c.3464_3465insC	c.(3463-3465)tcgfs	p.S1155fs	KCNH2_ENST00000330883.4_Frame_Shift_Ins_p.S815fs|KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.S1059fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1155					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)	TGCCCGGGTCCGAGCCGTGTCT	0.718																																					GBM(137;110 1844 13671 20123 45161)	.											0																																										SO:0001589	frameshift_variant	3757			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.3465dupC	7.37:g.150642469_150642469dupG	ENSP00000262186:p.Ser1155fs		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Ins	INS	ENST00000262186.5	37	CCDS5910.1																																																																																				0.718	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		G	150642469	-	G	150642468	7	5	29	1	0	1	1	0	0	0	0	0	8032	639	23	0	18	0	KCNH2	7	150642468	Frame_Shift_Ins	INS	-	TCGA-KM-8442-01A-11D-2310-10	50296432	150642468	8496195	35	2146											
MLL3	58508	broad.mit.edu;bcgsc.ca	37	chr7	151917680	151917680	+	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	aggggtctgaaggacggccaCgctattctgatttataatct	10	12	11	8	2	3	2	0	2	3	0	3	3	3	3	1	4	0	1	1	4	4	5			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr7:151917680C>T	ENST00000262189.6	-	23	3858	c.3640G>A	c.(3640-3642)Gtg>Atg	p.V1214M	KMT2C_ENST00000355193.2_Missense_Mutation_p.V1214M	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1214					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)										AGGACGGCCACGCTATTCTGA	0.393																																						.											0													92	86	88					7																	151917680		2203	4300	6503	SO:0001583	missense	58508			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.3640G>A	7.37:g.151917680C>T	ENSP00000262189:p.Val1214Met		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398057	0.62177	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84516	-1.85;-1.86	4.44	4.44	0.53790	.	0.000000	0.39210	U	0.001435	D	0.89993	0.6876	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.67382	0.921;0.951	D	0.90635	0.4570	10	0.52906	T	0.07	.	17.4147	0.87496	0.0:1.0:0.0:0.0	.	1214;275	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	M	1214	ENSP00000262189:V1214M;ENSP00000347325:V1214M	ENSP00000262189:V1214M	V	-	1	0	MLL3	151548613	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.392000	0.79840	2.161000	0.67846	0.484000	0.47621	GTG		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151917680	C	T	151917680	3	4	29	1	0	0	0	0	1	0	0	0	9622	536	19	1	11243	1	MLL3	7	151917680	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	1275212	151917680	7220983	36	2147											
TMEM70	54968	mdanderson.org	37	chr8	74888616	74888616	+	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	ccgcgctccgaggtccccggGcctctgtctcccgggcgtcc	1	7	13	20	6	2	0	0	0	2	0	6	1	5	0	7	3	0	1	7	3	0	0	rs8075	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr8:74888616G>C	ENST00000312184.5	+	1	173	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P	TMEM70_ENST00000523794.1_3'UTR|TMEM70_ENST00000517439.1_Missense_Mutation_p.A34P	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	34			A -> P (in dbSNP:rs8075).		mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			AGGTCCCCGGGCCTCTGTCTC	0.731													G|||	882	0.176118	0.2595	0.1715	5008	,	,		10013	0.1171		0.1491	False		,,,				2504	0.1554					.											0								G	PRO/ALA,PRO/ALA	1119,3259		156,807,1226	12	13	13		100,100	2.7	0	8	dbSNP_52	13	1112,7432		88,936,3248	no	missense,missense	TMEM70	NM_001040613.2,NM_017866.5	27,27	244,1743,4474	CC,CG,GG		13.015,25.5596,17.2651	probably-damaging,probably-damaging	34/108,34/261	74888616	2231,10691	2189	4272	6461	SO:0001583	missense	54968			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.100G>C	8.37:g.74888616G>C	ENSP00000312599:p.Ala34Pro		E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	CCDS6215.1	377	0.17261904761904762	154	0.3130081300813008	63	0.17403314917127072	63	0.11013986013986014	97	0.1279683377308707	G	18.66	3.671897	0.67928	0.255596	0.13015	ENSG00000175606	ENST00000517439;ENST00000312184	T;T	0.50001	0.76;1.09	3.61	2.71	0.32032	.	1.008340	0.07980	N	0.985433	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	D;P	0.55385	0.971;0.917	P;B	0.55391	0.775;0.445	T	0.24512	-1.0158	9	0.38643	T	0.18	-1.4075	7.4815	0.27408	0.122:0.0:0.878:0.0	rs8075;rs3193742;rs17295004;rs17349529	34;34	E9PDY9;Q9BUB7	.;TMM70_HUMAN	P	34	ENSP00000429467:A34P;ENSP00000312599:A34P	ENSP00000312599:A34P	A	+	1	0	TMEM70	75051170	0.013000	0.17824	0.002000	0.10522	0.009000	0.06853	1.407000	0.34657	1.077000	0.40990	0.491000	0.48974	GCC		0.731	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		C	74888616	G	C	74888616	3	2	29	1	0	0	0	0	1	0	0	0	16196	1203	42	5	102	5	TMEM70	8	74888616	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10		74888616	71475406	37	2148											
ADAMTSL1	92949	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	18777867	18777867	+	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	acccaaggcctaccatcagcTgggccaggaatggagaagaa	14	4	12	11	0	1	2	1	0	0	2	1	4	1	3	4	4	2	1	4	4	5	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr9:18777867T>A	ENST00000380548.4	+	19	3979	c.3640T>A	c.(3640-3642)Tgg>Agg	p.W1214R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1214	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W1214R(1)		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)		TACCATCAGCTGGGCCAGGAA	0.612																																						.											1	Substitution - Missense(1)	endometrium(1)											50	51	51					9																	18777867		2030	4187	6217	SO:0001583	missense	92949			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.3640T>A	9.37:g.18777867T>A	ENSP00000369921:p.Trp1214Arg		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.730924	0.69074	.	.	ENSG00000178031	ENST00000380548	D	0.96300	-3.97	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.98931	0.9637	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99466	1.0944	10	0.87932	D	0	.	16.326	0.82979	0.0:0.0:0.0:1.0	.	1214	Q8N6G6	ATL1_HUMAN	R	1214	ENSP00000369921:W1214R	ENSP00000369921:W1214R	W	+	1	0	ADAMTSL1	18767867	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.568000	0.67385	2.258000	0.74832	0.528000	0.53228	TGG		0.612	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			A	18777867	T	A	18777867	3	1	29	1	0	0	0	0	1	0	0	0	274	1580	55	5	3718	5	ADAMTSL1	9	18777867	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10		18777867	122435564	38	2149											
AQP7	364	mdanderson.org;bcgsc.ca	37	chr9	33385808	33385808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcctggcagtgctgggttGttctcctggtccgtgatggc	2	14	15	10	1	1	1	0	1	1	0	4	1	3	1	3	4	1	5	3	4	0	3	rs62542744		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr9:33385808G>T	ENST00000537089.1	-	6	624	c.306C>A	c.(304-306)aaC>aaA	p.N102K	AQP7_ENST00000377425.4_Missense_Mutation_p.N137K|AQP7_ENST00000541274.1_Missense_Mutation_p.Q63K|AQP7_ENST00000539936.1_Missense_Mutation_p.N194K			O14520	AQP7_HUMAN	aquaporin 7	194					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)		GTGCTGGGTTGTTCTCCTGGT	0.607																																						.											0													122	107	112					9																	33385808		2203	4300	6503	SO:0001583	missense	364			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.306C>A	9.37:g.33385808G>T	ENSP00000441619:p.Asn102Lys		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.08|15.08	2.727222|2.727222	0.48833|0.48833	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	D;D;D;D;D;D;D;D;D|T	0.83755|0.43688	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76|0.94	5.02|5.02	4.12|4.12	0.48240|0.48240	Aquaporin-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54711|0.54711	0.1875|0.1875	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D;D;D|D	0.89917|0.76494	1.0;0.999;1.0;1.0|0.999	D;D;D;D|D	0.87578|0.72338	0.995;0.995;0.993;0.998|0.977	T|T	0.53143|0.53143	-0.8480|-0.8480	10|8	0.87932|.	D|.	0|.	-24.7401|-24.7401	7.8517|7.8517	0.29459|0.29459	0.1855:0.0:0.8145:0.0|0.1855:0.0:0.8145:0.0	rs62542744|rs62542744	193;194;137;194|63	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	K|K	102;193;62;194;137;102;193;194;130|63	ENSP00000441619:N102K;ENSP00000368821:N193K;ENSP00000412868:N62K;ENSP00000297988:N194K;ENSP00000396111:N137K;ENSP00000410138:N102K;ENSP00000368820:N193K;ENSP00000439534:N194K;ENSP00000368817:N130K|ENSP00000438860:Q63K	ENSP00000297988:N194K|.	N|Q	-|-	3|1	2|0	AQP7|AQP7	33375808|33375808	1.000000|1.000000	0.71417|0.71417	0.740000|0.740000	0.30986|0.30986	0.116000|0.116000	0.19942|0.19942	2.130000|2.130000	0.42064|0.42064	1.319000|1.319000	0.45190|0.45190	0.645000|0.645000	0.84053|0.84053	AAC|CAA		0.607	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385808	G	T	33385808	3	4	29	1	0	0	0	0	1	0	0	0	831	1368	48	5	454	5	AQP7	9	33385808	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	14607941	33385808	107827623	39	2150											
PRSS3	5646	mdanderson.org	37	chr9	33796801	33796801	+	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	gcagctcactgctacaagacGtaagtgtggggcccctgact	9	8	12	12	1	1	2	1	1	0	1	1	2	1	2	2	2	3	4	2	2	3	2	rs143707562		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr9:33796801G>A	ENST00000361005.5	+	2	371		c.e2+1		PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Splice_Site	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						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)			GCTACAAGACGTAAGTGTGGG	0.597													G|||	1	0.000199681	0	0	5008	,	,		18879	0.001		0	False		,,,				2504	0					.											0													70	70	70					9																	33796801		2203	4300	6503	SO:0001630	splice_region_variant	5646				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.371+1G>A	9.37:g.33796801G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654290	0.14580	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	.	.	.	3.21	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1922	0.31374	0.1286:0.0:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS3	33786801	1.000000	0.71417	0.775000	0.31657	0.032000	0.12392	8.277000	0.89896	0.482000	0.27582	0.306000	0.20318	.		0.597	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Intron	A	33796801	G	A	33796801	5	1	29	1	0	0	0	0	0	0	1	0	12622	1159	40	1	422	1	PRSS3	9	33796801	Splice_Site	SNP	G	TCGA-KM-8442-01A-11D-2310-10	410993	33796801	107416630	40	2151											
KIAA1217	56243	ucsc.edu	37	chr10	24790406	24790406	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcagccatccacatgAgcctgcttgagatgaggcgg	9	7	12	13	1	1	3	1	3	0	1	2	4	2	3	4	2	3	2	4	2	0	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr10:24790406A>G	ENST00000376454.3	+	9	1963	c.1933A>G	c.(1933-1935)Agc>Ggc	p.S645G	KIAA1217_ENST00000396446.1_Missense_Mutation_p.S328G|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S610G|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S610G|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S565G|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S328G|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S531G|KIAA1217_ENST00000376451.2_Missense_Mutation_p.S328G|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S328G	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	645					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						CATCCACATGAGCCTGCTTGA	0.637																																						.											0													77	68	71					10																	24790406		2203	4300	6503	SO:0001583	missense	56243			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.1933A>G	10.37:g.24790406A>G	ENSP00000365637:p.Ser645Gly		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.902898	0.72754	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.71	5.71	0.89125	.	0.160790	0.64402	D	0.000002	T	0.64494	0.2603	L	0.60455	1.87	0.50467	D	0.999877	D;D;D;D;D;D;D;D	0.76494	0.999;0.973;0.999;0.984;0.999;0.999;0.992;0.975	D;P;D;P;D;D;D;P	0.85130	0.991;0.633;0.99;0.798;0.997;0.991;0.986;0.647	T	0.60637	-0.7224	10	0.27785	T	0.31	.	15.9709	0.80019	1.0:0.0:0.0:0.0	.	610;610;328;328;328;328;645;645	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	G	565;610;610;328;645;610;460;531;328;328;328;328;328	ENSP00000365645:S565G;ENSP00000365639:S610G;ENSP00000392625:S610G;ENSP00000365637:S645G;ENSP00000365635:S610G;ENSP00000404798:S460G;ENSP00000389680:S531G;ENSP00000302343:S328G;ENSP00000379722:S328G;ENSP00000365634:S328G;ENSP00000379723:S328G	ENSP00000302343:S328G	S	+	1	0	KIAA1217	24830412	1.000000	0.71417	0.976000	0.42696	0.577000	0.36160	6.249000	0.72427	2.182000	0.69389	0.533000	0.62120	AGC		0.637	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		G	24790406	A	G	24790406	3	3	29	1	0	0	0	0	1	0	0	0	8216	304	11	2	1967	2	KIAA1217	10	24790406	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10		24790406	110744341	41	2152											
ZRANB1	54764	bcgsc.ca	37	chr10	126631811	126631811	+	Frame_Shift_Del	DEL	A	A	-																															ggaacttgaagtagactttaAaaaactaaagcaaattaaaa																										TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr10:126631811delA	ENST00000359653.4	+	1	1120	c.749delA	c.(748-750)aaafs	p.K251fs	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	251					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)		GTAGACTTTAAAAAACTAAAG	0.413																																						.											0													43	47	46					10																	126631811		2203	4300	6503	SO:0001589	frameshift_variant	54764			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.749delA	10.37:g.126631811delA	ENSP00000352676:p.Lys251fs		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	ENST00000359653.4	37	CCDS7642.1																																																																																				0.413	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		-	126631811	A	-	126631811	7	5	29	1	0	1	0	1	0	0	0	0	18219	14	1	0	751	0	ZRANB1	10	126631811	Frame_Shift_Del	DEL	A	TCGA-KM-8442-01A-11D-2310-10	101841405	126631811	8902936	42	2153											
CAPRIN1	4076	broad.mit.edu	37	chr11	34074126	34074126	+	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	ggcgctgtccagaccgaggcCatgaagcagattctcggggt	8	7	15	11	3	1	3	0	1	1	2	3	4	2	3	3	4	1	2	3	4	1	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:34074126C>T	ENST00000341394.4	+	2	348	c.159C>T	c.(157-159)gcC>gcT	p.A53A	CAPRIN1_ENST00000530820.1_Silent_p.A53A|CAPRIN1_ENST00000529307.1_5'Flank|CAPRIN1_ENST00000389645.3_Silent_p.A53A|CAPRIN1_ENST00000532820.1_Silent_p.A53A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	53					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AGACCGAGGCCATGAAGCAGA	0.692																																						.											0													15	16	16					11																	34074126		2181	4272	6453	SO:0001819	synonymous_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.159C>T	11.37:g.34074126C>T			A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	ENST00000341394.4	37	CCDS31453.1																																																																																				0.692	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		T	34074126	C	T	34074126	2	4	29	1	0	0	0	0	0	0	0	1	2635	581	21	4		4	CAPRIN1	11	34074126	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10		34074126	100932390	43	2154											
OR4X1	390113	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	48285540	48285540	+	Missense_Mutation	SNP	T	T	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	tgtgctgggcaatggcctcaTtgtggtgaccatcctggcca	6	11	13	11	0	1	1	1	1	0	0	2	1	2	1	4	4	1	2	4	4	1	1	rs144193033		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:48285540T>C	ENST00000320048.1	+	1	128	c.128T>C	c.(127-129)aTt>aCt	p.I43T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AATGGCCTCATTGTGGTGACC	0.478																																						.											0								T	THR/ILE	1,4401	2.1+/-5.4	0,1,2200	181	162	169		128	3.1	1	11	dbSNP_134	169	0,8596		0,0,4298	no	missense	OR4X1	NM_001004726.1	89	0,1,6498	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	43/306	48285540	1,12997	2201	4298	6499	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.128T>C	11.37:g.48285540T>C	ENSP00000321506:p.Ile43Thr		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.419124	0.25552	2.27E-4	0.0	ENSG00000176567	ENST00000320048	T	0.00531	6.76	4.23	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	M	0.84585	2.705	0.23221	N	0.998095	D	0.55800	0.973	P	0.51229	0.663	T	0.44236	-0.9341	9	0.54805	T	0.06	.	8.1785	0.31296	0.0:0.0987:0.0:0.9013	.	43	Q8NH49	OR4X1_HUMAN	T	43	ENSP00000321506:I43T	ENSP00000321506:I43T	I	+	2	0	OR4X1	48242116	0.081000	0.21417	0.996000	0.52242	0.048000	0.14542	2.657000	0.46724	0.757000	0.33036	-0.458000	0.05436	ATT		0.478	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		C	48285540	T	C	48285540	3	2	29	1	0	0	0	0	1	0	0	0	11084	1493	52	4	130	4	OR4X1	11	48285540	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	14211414	48285540	86720976	44	2155											
OR4C12	283093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	50004015	50004015	+	Missense_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	gacctattaaaatgaattcaGtcacattctttttcttctcc	11	17	3	10	0	5	1	2	1	3	0	6	2	5	1	2	0	0	0	2	0	4	7			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:50004015G>A	ENST00000335238.4	-	1	56	c.23C>T	c.(22-24)aCt>aTt	p.T8I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AATGAATTCAGTCACATTCTT	0.338																																						.											0													48	44	45					11																	50004015		2201	4296	6497	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.23C>T	11.37:g.50004015G>A	ENSP00000334418:p.Thr8Ile		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.908473	0.52333	.	.	ENSG00000221954	ENST00000335238	T	0.02158	4.42	3.31	3.31	0.37934	.	0.000000	0.43260	U	0.000595	T	0.11879	0.0289	M	0.86028	2.79	0.26673	N	0.971689	D	0.63046	0.992	D	0.65010	0.931	T	0.00907	-1.1519	10	0.87932	D	0	.	12.6176	0.56586	0.0:0.0:1.0:0.0	.	8	Q96R67	OR4CC_HUMAN	I	8	ENSP00000334418:T8I	ENSP00000334418:T8I	T	-	2	0	OR4C12	49960591	0.000000	0.05858	0.983000	0.44433	0.764000	0.43329	0.307000	0.19296	1.878000	0.54408	0.398000	0.26397	ACT		0.338	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		A	50004015	G	A	50004015	3	1	29	1	0	0	0	0	1	0	0	0	11046	1029	36	4	910	4	OR4C12	11	50004015	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	1718475	50004015	85002501	45	2156											
OR5M9	390162	mdanderson.org;bcgsc.ca	37	chr11	56230678	56230678	+	Missense_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	tggaggagaagcacacgtccGcaaaagacagatgactcagg	15	4	13	9	2	1	4	1	1	0	3	2	6	2	5	1	3	1	2	1	3	3	0	rs61902871	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:56230678G>A	ENST00000279791.1	-	1	199	c.200C>T	c.(199-201)gCg>gTg	p.A67V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	67						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(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GCACACGTCCGCAAAAGACAG	0.428													a|||	519	0.103634	0.2481	0.062	5008	,	,		21278	0.001		0.0934	False		,,,				2504	0.0542					.											0								A	VAL/ALA	946,3456	735.1+/-410.6	118,710,1373	80	82	81		200	3.7	1	11	dbSNP_129	81	698,7894	787.4+/-407.6	35,628,3633	yes	missense	OR5M9	NM_001004743.1	64	153,1338,5006	AA,AG,GG		8.1238,21.4902,12.652	benign	67/311	56230678	1644,11350	2201	4296	6497	SO:0001583	missense	390162			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.200C>T	11.37:g.56230678G>A	ENSP00000279791:p.Ala67Val		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	236	0.10805860805860806	146	0.2967479674796748	20	0.055248618784530384	0	0.0	70	0.09234828496042216	A	0.026	-1.372847	0.01214	0.214902	0.081238	ENSG00000150269	ENST00000279791	T	0.02837	4.14	4.85	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	N	0.000938	T	0.00012	0.0000	N	0.00602	-1.34	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44251	-0.9340	9	0.02654	T	1	-16.2914	6.9898	0.24750	0.7313:0.0:0.2687:0.0	rs61902871	67	Q8NGP3	OR5M9_HUMAN	V	67	ENSP00000279791:A67V	ENSP00000279791:A67V	A	-	2	0	OR5M9	55987254	0.000000	0.05858	0.971000	0.41717	0.666000	0.39218	0.408000	0.21065	0.296000	0.22592	-1.839000	0.00587	GCG		0.428	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		A	56230678	G	A	56230678	3	1	29	1	0	0	0	0	1	0	0	0	11177	1087	38	1	734	1	OR5M9	11	56230678	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	6226663	56230678	78775838	46	2157											
P2RY2	5029	ucsc.edu;mdanderson.org	37	chr11	72945651	72945651	+	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	cgctggggccgggcccgctaCgctcgccgggtggccggggc	1	4	20	16	7	0	0	0	0	0	0	1	0	0	0	4	7	1	3	4	7	1	1	rs147817701	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:72945651C>T	ENST00000311131.2	+	3	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_ENST00000393597.2_Silent_p.Y149Y|P2RY2_ENST00000393596.2_Silent_p.Y149Y	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	149					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGGCCCGCTACGCTCGCCGGG	0.697													C|||	29	0.00579073	8e-04	0	5008	,	,		14981	0		0.002	False		,,,				2504	0.0266					.											0								C	,,	3,4397	6.2+/-15.9	0,3,2197	37	38	38		447,447,447	-9.3	0.8	11	dbSNP_134	38	12,8572	9.1+/-34.3	0,12,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	P2RY2	NM_002564.2,NM_176071.1,NM_176072.1	,,	0,15,6477	TT,TC,CC		0.1398,0.0682,0.1155	,,	149/378,149/378,149/378	72945651	15,12969	2200	4292	6492	SO:0001819	synonymous_variant	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.447C>T	11.37:g.72945651C>T			B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	CCDS8219.1																																																																																				0.697	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945651	C	T	72945651	2	4	29	1	0	0	0	0	0	0	0	1	11352	547	19	1		1	P2RY2	11	72945651	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10	16714973	72945651	62060865	47	2158											
MPZL3	196264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	118111082	118111082	+	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	cgaatctccaaggaaaagacGatataaacacctaatcaaag	20	6	6	9	2	2	1	1	0	1	1	3	4	2	2	2	1	1	0	2	1	9	3	rs565159411		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr11:118111082G>A	ENST00000278949.4	-	2	139	c.84C>T	c.(82-84)atC>atT	p.I28I	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	28					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGGAAAAGACGATATAAACAC	0.388													G|||	1	0.000199681	0	0	5008	,	,		19877	0		0	False		,,,				2504	0.001					.											0													132	116	121					11																	118111082		2200	4296	6496	SO:0001819	synonymous_variant	196264			AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"Immunoglobulin superfamily / V-set domain containing"	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.84C>T	11.37:g.118111082G>A			A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	CCDS8392.1																																																																																				0.388	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		A	118111082	G	A	118111082	2	1	29	1	0	0	0	0	0	0	0	1	9751	1048	37	1		1	MPZL3	11	118111082	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10	45165431	118111082	16895434	48	2159											
KRT6A	3853	mdanderson.org	37	chr12	52886641	52886641	+	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	ggccggctccaccacccagaCcaaagccaatgccggctcca	10	3	9	19	2	0	1	0	0	0	1	2	1	2	1	8	3	2	2	8	3	2	0	rs681063	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr12:52886641C>T	ENST00000330722.6	-	1	400	c.332G>A	c.(331-333)gGt>gAt	p.G111D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	111	Head.		G -> D (in dbSNP:rs681063).		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)		ACCACCCAGACCAAAGCCAAT	0.647																																						.											0													30	33	32					12																	52886641		2200	4271	6471	SO:0001583	missense	3853			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.332G>A	12.37:g.52886641C>T	ENSP00000369317:p.Gly111Asp		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396691	0.42512	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.97941	-4.62	5.24	5.24	0.73138	.	0.000000	0.50627	D	0.000103	D	0.99048	0.9674	M	0.93328	3.405	0.48452	D	0.999659	D	0.89917	1.0	D	0.71414	0.973	D	0.99116	1.0848	10	0.49607	T	0.09	.	19.2638	0.93979	0.0:1.0:0.0:0.0	rs681063	111	P02538	K2C6A_HUMAN	D	111;67	ENSP00000369317:G111D	ENSP00000369317:G111D	G	-	2	0	KRT6A	51172908	0.999000	0.42202	0.995000	0.50966	0.400000	0.30750	5.876000	0.69667	2.626000	0.88956	0.549000	0.68633	GGT		0.647	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		T	52886641	C	T	52886641	3	4	29	1	0	0	0	0	1	0	0	0	8480	507	18	3	1398	3	KRT6A	12	52886641	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10		52886641	80965254	49	2160											
SRGAP1	57522	hgsc.bcm.edu	37	chr12	64536390	64536390	+	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	ctgctgttcttccaaaaacaAatcctaccataggacctgcc	12	10	5	14	0	1	0	0	0	1	0	3	1	3	1	5	1	4	2	5	1	5	4			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr12:64536390A>C	ENST00000355086.3	+	22	3720	c.3196A>C	c.(3196-3198)Aat>Cat	p.N1066H	SRGAP1_ENST00000357825.3_Missense_Mutation_p.N1043H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.N1003H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1066					axon guidance (GO:0007411)|cell migration (GO:0016477)|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)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCCAAAAACAAATCCTACCAT	0.507																																						.											0													113	115	115					12																	64536390		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3196A>C	12.37:g.64536390A>C	ENSP00000347198:p.Asn1066His		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003655	0.74932	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.32272	1.46;1.46;1.46	5.91	4.75	0.60458	.	0.000000	0.37809	U	0.001926	T	0.36880	0.0983	L	0.38175	1.15	0.43355	D	0.995427	P;P	0.48764	0.511;0.915	B;P	0.53988	0.101;0.739	T	0.03863	-1.0997	9	.	.	.	.	13.3793	0.60759	0.8686:0.1314:0.0:0.0	.	1066;1003	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	1066;1043;1003	ENSP00000347198:N1066H;ENSP00000350480:N1043H;ENSP00000437948:N1003H	.	N	+	1	0	SRGAP1	62822657	1.000000	0.71417	0.990000	0.47175	0.964000	0.63967	6.976000	0.76135	1.046000	0.40249	0.379000	0.24179	AAT		0.507	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			C	64536390	A	C	64536390	3	2	29	1	0	0	0	0	1	0	0	0	15144	14	1	5	3282	5	SRGAP1	12	64536390	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	11649749	64536390	69315505	50	2161											
C1QTNF9B	387911	ucsc.edu	37	chr13	24465600	24465600	+	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	cagagctcacgtaagcatctCtggtgtgcagtatttttact	9	14	9	9	1	2	1	1	0	1	1	3	1	2	1	0	1	4	5	0	1	3	5	rs3864969	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr13:24465600C>T	ENST00000382140.2	-	5	890	c.830G>A	c.(829-831)aGa>aAa	p.R277K	MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_3'UTR|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R277K|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	277	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTAAGCATCTCTGGTGTGCAG	0.512													T|||	68	0.0135783	0.0348	0.0115	5008	,	,		17990	0		0.0089	False		,,,				2504	0.0051					.											0													124	107	113					13																	24465600		2188	4275	6463	SO:0001583	missense	387911			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.830G>A	13.37:g.24465600C>T	ENSP00000371575:p.Arg277Lys		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	CCDS31947.1	58	0.026556776556776556	31	0.06300813008130081	8	0.022099447513812154	1	0.0017482517482517483	18	0.023746701846965697	t	3.628	-0.076110	0.07184	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	T;T	0.74632	-0.86;-0.86	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.107337	0.64402	N	0.000004	T	0.06872	0.0175	N	0.02721	-0.515	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03453	-1.1035	10	0.25751	T	0.34	.	1.5902	0.02653	0.1778:0.0991:0.1595:0.5636	rs3864969;rs52833573;rs3864969	277	B2RNN3	C1T9B_HUMAN	K	277	ENSP00000371572:R277K;ENSP00000371575:R277K	ENSP00000371572:R277K	R	-	2	0	C1QTNF9B	23363600	0.993000	0.37304	0.983000	0.44433	0.120000	0.20174	1.648000	0.37271	0.533000	0.28675	-0.535000	0.04281	AGA		0.512	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		T	24465600	C	T	24465600	3	4	29	1	0	0	0	0	1	0	0	0	1971	913	32	4	174	4	C1QTNF9B	13	24465600	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10		24465600	90704278	51	2162											
PRMT5	10419	broad.mit.edu	37	chr14	23393288	23393288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaatgagcccagaagcTcactgacaatgatgtctgct	13	8	9	11	0	2	4	1	3	1	1	2	4	2	4	1	0	4	3	1	0	3	0			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr14:23393288T>C	ENST00000324366.8	-	12	1527	c.1304A>G	c.(1303-1305)gAg>gGg	p.E435G	PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.E329G|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.E374G|PRMT5_ENST00000397440.4_Missense_Mutation_p.E264G|PRMT5_ENST00000553897.1_Missense_Mutation_p.E391G|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.E418G	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	435	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCCCAGAAGCTCACTGACAAT	0.532																																						.											0													106	97	100					14																	23393288		2203	4300	6503	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1304A>G	14.37:g.23393288T>C	ENSP00000319169:p.Glu435Gly		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419250	0.83559	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.5	5.5	0.81552	.	0.089817	0.85682	D	0.000000	T	0.59797	0.2220	M	0.91196	3.185	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;1.0	T	0.69476	-0.5135	10	0.87932	D	0	-22.6753	14.731	0.69383	0.0:0.0:0.0:1.0	.	391;374;264;435;418	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	G	435;418;264;374;34;329;391	ENSP00000319169:E435G;ENSP00000380583:E418G;ENSP00000380582:E264G;ENSP00000216350:E374G;ENSP00000451245:E34G;ENSP00000444915:E329G;ENSP00000452555:E391G	ENSP00000216350:E374G	E	-	2	0	PRMT5	22463128	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.304000	0.78882	2.313000	0.78055	0.454000	0.30748	GAG		0.532	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			C	23393288	T	C	23393288	3	2	29	1	0	0	0	0	1	0	0	0	12539	1551	54	2	633	2	PRMT5	14	23393288	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10		23393288	83956252	52	2163											
AHNAK2	113146	broad.mit.edu	37	chr14	105412335	105412335	+	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	ggggcagacaccccgaacgaCggcatcttgaacttgggcat	10	6	13	12	3	1	2	0	1	1	1	1	4	1	2	2	4	2	3	2	4	2	2	rs202104959	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr14:105412335C>T	ENST00000333244.5	-	7	9572	c.9453G>A	c.(9451-9453)ccG>ccA	p.P3151P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P3151P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCGAACGACGGCATCTTGA	0.602																																						.											1	Substitution - coding silent(1)	endometrium(1)											198	138	157					14																	105412335		1921	4005	5926	SO:0001819	synonymous_variant	113146			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.9453G>A	14.37:g.105412335C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412335	C	T	105412335	2	4	29	1	0	0	0	0	0	0	0	1	415	523	19	1		1	AHNAK2	14	105412335	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10	82019047	105412335	1937205	53	2164											
EIF2AK4	440275	broad.mit.edu	37	chr15	40257897	40257897	+	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	taatgtgcaggcagtgatgaAcaacttggaaaattagtcta	15	11	10	5	0	1	2	0	2	1	0	1	3	1	3	0	2	3	2	0	2	7	4			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr15:40257897A>G	ENST00000263791.5	+	8	913	c.870A>G	c.(868-870)gaA>gaG	p.E290E	EIF2AK4_ENST00000382727.2_Silent_p.E290E|EIF2AK4_ENST00000559624.1_Silent_p.E290E	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	290					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)		GCAGTGATGAACAACTTGGAA	0.418																																						.											0													170	163	165					15																	40257897		1886	4125	6011	SO:0001819	synonymous_variant	440275			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.870A>G	15.37:g.40257897A>G			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	CCDS42016.1																																																																																				0.418	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			G	40257897	A	G	40257897	2	3	29	1	0	0	0	0	0	0	0	1	4999	40	2	2		2	EIF2AK4	15	40257897	Silent	SNP	A	TCGA-KM-8442-01A-11D-2310-10		40257897	62273495	54	2165											
DPP8	54878	bcgsc.ca	37	chr15	65743404	65743404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggtatgtgcaaaatggAcattctcatccaggaaacca	14	10	8	9	0	1	0	1	0	1	0	3	2	2	2	2	3	3	2	2	3	5	3			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr15:65743404A>G	ENST00000341861.5	-	19	4087	c.2507T>C	c.(2506-2508)gTc>gCc	p.V836A	DPP8_ENST00000321118.7_Missense_Mutation_p.V787A|DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000339244.5_Missense_Mutation_p.V663A|DPP8_ENST00000559233.1_Missense_Mutation_p.V836A|DPP8_ENST00000300141.6_Missense_Mutation_p.V820A|DPP8_ENST00000358939.4_Missense_Mutation_p.V720A|DPP8_ENST00000321147.6_Missense_Mutation_p.V785A	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	836					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						TGCAAAATGGACATTCTCATC	0.363																																						.											0													136	146	143					15																	65743404		2201	4299	6500	SO:0001583	missense	54878			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.2507T>C	15.37:g.65743404A>G	ENSP00000339208:p.Val836Ala		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930737	0.73327	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.31	5.31	0.75309	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.73210	0.3558	M	0.89478	3.035	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.99;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.98;1.0;1.0	T	0.79420	-0.1811	10	0.87932	D	0	-14.4712	14.4796	0.67573	1.0:0.0:0.0:0.0	.	787;820;720;785;836	Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	A	836;720;820;785;787;663	ENSP00000339208:V836A;ENSP00000351817:V720A;ENSP00000300141:V820A;ENSP00000318111:V785A;ENSP00000316373:V787A;ENSP00000341230:V663A	ENSP00000300141:V820A	V	-	2	0	DPP8	63530457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.332000	0.96446	2.009000	0.58944	0.528000	0.53228	GTC		0.363	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		G	65743404	A	G	65743404	3	3	29	1	0	0	0	0	1	0	0	0	4732	275	10	2	197	2	DPP8	15	65743404	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	25485507	65743404	36787988	55	2166											
ADAMTS7	11173	ucsc.edu;mdanderson.org	37	chr15	79092750	79092750	+	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	cggtattgtagctcgtagaaGgcgggcgcgtctcggcgcac	6	8	16	11	7	1	1	0	0	1	1	3	1	1	1	0	4	1	5	0	4	4	4	rs7173267	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr15:79092750G>C	ENST00000388820.4	-	2	450	c.240C>G	c.(238-240)gcC>gcG	p.A80A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	80					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCTCGTAGAAGGCGGGCGCGT	0.692													G|||	1245	0.248602	0.1044	0.2968	5008	,	,		12618	0.1518		0.4284	False		,,,				2504	0.3241					.											0								G		628,3716		55,518,1599	11	12	11		240	1.1	0.9	15	dbSNP_116	11	3580,4914		781,2018,1448	no	coding-synonymous	ADAMTS7	NM_014272.3		836,2536,3047	CC,CG,GG		42.1474,14.4567,32.7777		80/1687	79092750	4208,8630	2172	4247	6419	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.240C>G	15.37:g.79092750G>C			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				0.692	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		C	79092750	G	C	79092750	2	2	29	1	0	0	0	0	0	0	0	1	271	987	35	5		5	ADAMTS7	15	79092750	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10	13349346	79092750	23438642	56	2167											
FSD2	123722	broad.mit.edu;mdanderson.org	37	chr15	83451563	83451563	+	Missense_Mutation	SNP	T	T	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	tgacctttatgaaatccaccTtctcctcgtgacacatctcc	9	13	4	15	1	2	3	0	3	2	0	6	3	3	3	5	0	0	0	5	0	2	3			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr15:83451563T>C	ENST00000334574.8	-	4	1131	c.950A>G	c.(949-951)aAg>aGg	p.K317R	FSD2_ENST00000541889.1_Missense_Mutation_p.K317R			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	317										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GAAATCCACCTTCTCCTCGTG	0.378																																						.											0													266	253	257					15																	83451563		1926	4125	6051	SO:0001583	missense	123722			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.950A>G	15.37:g.83451563T>C	ENSP00000335651:p.Lys317Arg		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211095	0.79240	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.63580	0.43;-0.05	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	L	0.50333	1.59	0.37277	D	0.907671	P;D	0.89917	0.624;1.0	P;D	0.83275	0.599;0.996	T	0.76217	-0.3040	10	0.38643	T	0.18	-49.0724	15.7575	0.78046	0.0:0.0:0.0:1.0	.	317;317	B7ZM02;A1L4K1	.;FSD2_HUMAN	R	317	ENSP00000335651:K317R;ENSP00000444078:K317R	ENSP00000335651:K317R	K	-	2	0	FSD2	81248617	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	6.684000	0.74538	2.317000	0.78254	0.459000	0.35465	AAG		0.378	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		C	83451563	T	C	83451563	3	2	29	1	0	0	0	0	1	0	0	0	6071	1609	56	2	1339	2	FSD2	15	83451563	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	4358813	83451563	19079829	57	2168											
WFIKKN1	117166	mdanderson.org	37	chr16	681284	681284	+	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	tacgtccactcctgccgctcCtgctcctcctccggctgacc	3	10	7	21	3	0	1	0	1	0	0	6	1	6	1	8	1	3	3	8	1	1	1	rs8062289	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr16:681284C>T	ENST00000319070.2	+	1	353	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	11					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)				CCTGCCGCTCCTGCTCCTCCT	0.741													c|||	1093	0.218251	0.3986	0.0965	5008	,	,		11117	0.0357		0.1859	False		,,,				2504	0.2822					.											0										1488,2824		287,914,955	10	11	11		31	0.8	0	16	dbSNP_116	11	1579,6943		165,1249,2847	no	coding-synonymous	WFIKKN1	NM_053284.2		452,2163,3802	TT,TC,CC		18.5285,34.5083,23.8975		11/549	681284	3067,9767	2156	4261	6417	SO:0001819	synonymous_variant	117166			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.31C>T	16.37:g.681284C>T			Q7LDW0|Q8NBQ1|Q96S20	Silent	SNP	ENST00000319070.2	37	CCDS10414.1																																																																																				0.741	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284		T	681284	C	T	681284	2	4	29	1	0	0	0	0	0	0	0	1	17355	680	24	4		4	WFIKKN1	16	681284	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10		681284	89673469	58	2169											
CACNA1H	8912	mdanderson.org	37	chr16	1252259	1252259	+	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	actgccgctgccagcctcagActggccacagggctgggcac	7	5	13	16	1	1	1	1	0	0	1	1	1	1	1	4	3	3	3	4	3	0	0	rs9934839	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr16:1252259A>G	ENST00000348261.5	+	9	2057	c.1809A>G	c.(1807-1809)agA>agG	p.R603R	CACNA1H_ENST00000565831.1_Silent_p.R603R|CACNA1H_ENST00000358590.4_Silent_p.R603R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	603					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)	CCAGCCTCAGACTGGCCACAG	0.677													G|||	1986	0.396565	0.5877	0.379	5008	,	,		14978	0.119		0.4901	False		,,,				2504	0.3405					.											0			GRCh37	CM071579	CACNA1H	M	rs9934839	G	,	2248,1408		734,780,314	5	6	6		1809,1809	2.3	0.9	16	dbSNP_119	6	4058,3834		1155,1748,1043	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	1889,2528,1357	GG,GA,AA		48.5808,38.512,45.3931	,	603/2348,603/2354	1252259	6306,5242	1828	3946	5774	SO:0001819	synonymous_variant	8912			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.1809A>G	16.37:g.1252259A>G			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.677	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		G	1252259	A	G	1252259	2	3	29	1	0	0	0	0	0	0	0	1	2545	272	10	2		2	CACNA1H	16	1252259	Silent	SNP	A	TCGA-KM-8442-01A-11D-2310-10	570975	1252259	89102494	59	2170											
NME3	4832	mdanderson.org	37	chr16	1820992	1820992	+	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	accacgtccagcccctgccaTacctgtgcggaggaacgggc	8	5	12	16	3	0	0	0	0	0	0	1	2	1	2	6	3	5	0	6	3	2	1	rs11890	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr16:1820992T>A	ENST00000219302.3	-	4	477	c.282A>T	c.(280-282)gtA>gtT	p.V94V	EME2_ENST00000307394.7_5'Flank|NME3_ENST00000563498.1_Silent_p.V10V|EME2_ENST00000568449.1_5'Flank	NM_002513.2	NP_002504.2	Q13232	NDK3_HUMAN	NME/NM23 nucleoside diphosphate kinase 3	94					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			lung(1)	1						GCCCCTGCCATACCTGTGCGG	0.741													T|||	3824	0.763578	0.848	0.8761	5008	,	,		10226	0.6369		0.7903	False		,,,				2504	0.6728					.											0								T		3531,581		1515,501,40	9	12	11		282	1.4	1	16	dbSNP_52	11	6820,1398		2822,1176,111	no	coding-synonymous	NME3	NM_002513.2		4337,1677,151	AA,AT,TT		17.0114,14.1294,16.0503		94/170	1820992	10351,1979	2056	4109	6165	SO:0001819	synonymous_variant	4832			U29656	CCDS10443.1	16q13.3	2013-04-29	2012-05-18		ENSG00000103024	ENSG00000103024			7851	protein-coding gene	gene with protein product		601817	"non-metastatic cells 3, protein expressed in"			9067290, 19852809	Standard	NM_002513		Approved	DR-nm23, NM23-H3, NDPKC	uc002cmm.3	Q13232	OTTHUMG00000128635	ENST00000219302.3:c.282A>T	16.37:g.1820992T>A			Q9BWH4	Silent	SNP	ENST00000219302.3	37	CCDS10443.1																																																																																				0.741	NME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250505.2	NM_002513		A	1820992	T	A	1820992	2	1	29	1	0	0	0	0	0	0	0	1	10492	1393	49	5		5	NME3	16	1820992	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10	568733	1820992	88533761	60	2171											
KRTAP4-3	85290	mdanderson.org	37	chr17	39324139	39324139	+	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	ggggcggcagcaggtggtccTgcagcagctgggtttgcagc	5	7	19	10	1	0	0	0	0	0	0	1	0	1	0	1	6	6	7	1	6	0	1	rs12603046		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr17:39324139T>G	ENST00000391356.2	-	1	285	c.286A>C	c.(286-288)Agg>Cgg	p.R96R		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	96	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)			CAGGTGGTCCTgcagcagctg	0.612																																						.											0													8	11	10					17																	39324139		2005	4178	6183	SO:0001819	synonymous_variant	85290			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.286A>C	17.37:g.39324139T>G				Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																				0.612	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			G	39324139	T	G	39324139	2	3	29	1	0	0	0	0	0	0	0	1	8552	1579	55	5		5	KRTAP4-3	17	39324139	Silent	SNP	T	TCGA-KM-8442-01A-11D-2310-10		39324139	41871071	61	2172											
GFAP	2670	ucsc.edu	37	chr17	42985455	42985455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcccgcatctccacggTcttcaccacgatgttcctct	6	12	5	18	3	4	0	1	0	3	0	8	1	7	0	5	1	0	2	5	1	0	2			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr17:42985455T>C	ENST00000253408.5	-	8	1299	c.1234A>G	c.(1234-1236)Acc>Gcc	p.T412A	GFAP_ENST00000588735.1_Missense_Mutation_p.T38A	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	412	Tail.				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)				ATCTCCACGGTCTTCACCACG	0.587																																						.											0													233	199	211					17																	42985455		2203	4300	6503	SO:0001583	missense	2670			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.1234A>G	17.37:g.42985455T>C	ENSP00000253408:p.Thr412Ala		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766810	0.90020	.	.	ENSG00000131095	ENST00000253408;ENST00000421021	D	0.99515	-6.06	5.13	5.13	0.70059	.	0.058374	0.64402	D	0.000002	D	0.99281	0.9749	M	0.80847	2.515	0.80722	D	1	P	0.34837	0.472	P	0.48089	0.566	D	0.99376	1.0921	10	0.87932	D	0	.	15.1002	0.72269	0.0:0.0:0.0:1.0	.	412	P14136	GFAP_HUMAN	A	412;387	ENSP00000253408:T412A	ENSP00000253408:T412A	T	-	1	0	GFAP	40340981	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.782000	0.68973	2.163000	0.67991	0.448000	0.29417	ACC		0.587	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		C	42985455	T	C	42985455	3	2	29	1	0	0	0	0	1	0	0	0	6337	1667	58	2	72	2	GFAP	17	42985455	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10	3661316	42985455	38209755	62	2173											
TCF3	6929	mdanderson.org	37	chr19	1622116	1622116	+	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	ccactgctgcccaccgggccGctaccgggcgggaggggcag	5	3	17	16	4	0	0	0	0	0	0	0	1	0	1	5	5	3	3	5	5	1	1	rs2240590	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:1622116G>A	ENST00000262965.5	-	10	1103	c.759C>T	c.(757-759)agC>agT	p.S253S	TCF3_ENST00000395423.3_Silent_p.S202S|TCF3_ENST00000588136.1_Silent_p.S253S|TCF3_ENST00000344749.5_Silent_p.S253S|TCF3_ENST00000453954.2_Silent_p.S169S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(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)		CCACCGGGCCGCTACCGGGCG	0.741			T	"PBX1, HLF, TFPT"	pre B-ALL								g|||	1698	0.339058	0.593	0.2925	5008	,	,		10107	0.244		0.1163	False		,,,				2504	0.3558					.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0								G	,	1908,2318		433,1042,638	6	7	7		759,759	2.7	0.2	19	dbSNP_98	7	1001,7343		85,831,3256	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	518,1873,3894	AA,AG,GG		11.9966,45.1491,23.1424	,	253/652,253/655	1622116	2909,9661	2113	4172	6285	SO:0001819	synonymous_variant	6929			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.759C>T	19.37:g.1622116G>A			Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																				0.741	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1622116	G	A	1622116	2	1	29	1	0	0	0	0	0	0	0	1	15691	1078	38	1		1	TCF3	19	1622116	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10		1622116	57506867	63	2174											
IL12RB1	3594	mdanderson.org;bcgsc.ca	37	chr19	18188408	18188408	+	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	ccggggtctcccactccataCgcagctgcccggccaacttg	6	7	10	18	3	1	0	0	0	1	0	3	0	2	0	5	3	4	2	5	3	2	2	rs11575926	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:18188408C>T	ENST00000600835.2	-	6	765	c.467G>A	c.(466-468)cGt>cAt	p.R156H	IL12RB1_ENST00000322153.7_Missense_Mutation_p.R156H|IL12RB1_ENST00000593993.2_Missense_Mutation_p.R156H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	156	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in dbSNP:rs11575926). {ECO:0000269|Ref.3}.		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						CCACTCCATACGCAGCTGCCC	0.582													C|||	280	0.0559105	0.0068	0.0692	5008	,	,		16517	0.001		0.1551	False		,,,				2504	0.0675					.											0								C	HIS/ARG,HIS/ARG	158,4248	107.8+/-146.2	3,152,2048	65	54	58		467,467	-7.8	0	19	dbSNP_120	58	1494,7106	283.3+/-296.1	127,1240,2933	no	missense,missense	IL12RB1	NM_005535.1,NM_153701.1	29,29	130,1392,4981	TT,TC,CC		17.3721,3.586,12.7018	benign,benign	156/663,156/382	18188408	1652,11354	2203	4300	6503	SO:0001583	missense	3594			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.467G>A	19.37:g.18188408C>T	ENSP00000470788:p.Arg156His		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	146	0.06684981684981685	2	0.0040650406504065045	26	0.0718232044198895	1	0.0017482517482517483	117	0.15435356200527706	C	9.619	1.133424	0.21041	0.03586	0.173721	ENSG00000096996	ENST00000430026;ENST00000322153	T;D	0.85955	-1.49;-2.05	3.9	-7.79	0.01218	Immunoglobulin-like fold (1);	1.817980	0.03453	N	0.210996	T	0.00440	0.0014	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29862	0.025;0.259;0.014	B;B;B	0.17433	0.007;0.018;0.003	T	0.18023	-1.0350	10	0.30854	T	0.27	-1.1907	6.7248	0.23350	0.6568:0.1478:0.0:0.1953	rs11575926;rs17884715	156;156;156	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	H	156	ENSP00000403103:R156H;ENSP00000314425:R156H	ENSP00000314425:R156H	R	-	2	0	IL12RB1	18049408	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.507000	0.02268	-1.510000	0.01796	-0.302000	0.09304	CGT		0.582	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			T	18188408	C	T	18188408	3	4	29	1	0	0	0	0	1	0	0	0	7626	536	19	1	1702	1	IL12RB1	19	18188408	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	16566292	18188408	40940575	64	2175											
FCGBP	8857	broad.mit.edu	37	chr19	40380652	40380652	+	Frame_Shift_Del	DEL	A	A	-																															gggtgccgacaggctcgggcAgctcccaggacaggagtcac																										TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:40380652delA	ENST00000221347.6	-	23	10670	c.10663delT	c.(10663-10665)tgcfs	p.C3555fs	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3555	Cys-rich.|TIL 8.					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)			AGGCTCGGGCAGCTCCCAGGA	0.637																																						.											0													1	2	2					19																	40380652		246	1429	1675	SO:0001589	frameshift_variant	8857			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.10663delT	19.37:g.40380652delA	ENSP00000221347:p.Cys3555fs		O95784	Frame_Shift_Del	DEL	ENST00000221347.6	37	CCDS12546.1																																																																																				0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		-	40380652	A	-	40380652	7	5	29	1	0	1	0	1	0	0	0	0	5778	188	7	0	5610	0	FCGBP	19	40380652	Frame_Shift_Del	DEL	A	TCGA-KM-8442-01A-11D-2310-10	22192244	40380652	18748331	65	2176											
MAP3K10	4294	hgsc.bcm.edu;ucsc.edu	37	chr19	40719458	40719458	+	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	gcagaggatggaggcagcagCgtgcccccttccccctactc	7	6	12	16	1	0	1	0	0	0	1	2	3	1	3	4	3	4	3	4	3	1	2			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:40719458C>T	ENST00000253055.3	+	9	2160	c.1872C>T	c.(1870-1872)agC>agT	p.S624S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	624					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						GAGGCAGCAGCGTGCCCCCTT	0.726																																						.											0													16	18	17					19																	40719458		2200	4293	6493	SO:0001819	synonymous_variant	4294			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.1872C>T	19.37:g.40719458C>T			Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	CCDS12549.1																																																																																				0.726	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		T	40719458	C	T	40719458	2	4	29	1	0	0	0	0	0	0	0	1	9244	767	27	1		1	MAP3K10	19	40719458	Silent	SNP	C	TCGA-KM-8442-01A-11D-2310-10	338806	40719458	18409525	66	2177											
CYP2A6	1548	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	41354576	41354576	+	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	ctcctcctggatgcgctcctCgatgcctcgcttgcccaccc	3	10	8	20	3	0	0	0	0	0	0	5	2	3	1	6	1	3	2	6	1	0	1	rs200793736		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr19:41354576C>T	ENST00000301141.5	-	3	456	c.436G>A	c.(436-438)Gag>Aag	p.E146K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	146					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)			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)	ATGCGCTCCTCGATGCCTCGC	0.692													.|||	1	0.000199681	0	0	5008	,	,		14358	0		0.001	False		,,,				2504	0					.											0													39	42	41					19																	41354576		2203	4299	6502	SO:0001583	missense	1548			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.436G>A	19.37:g.41354576C>T	ENSP00000301141:p.Glu146Lys		A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	22.0	4.226482	0.79576	.	.	ENSG00000255974	ENST00000301141	T	0.71934	-0.61	2.95	0.646	0.17789	.	0.000000	0.85682	U	0.000000	T	0.75459	0.3852	M	0.88512	2.96	0.34218	D	0.675097	D	0.60575	0.988	P	0.49451	0.611	T	0.79543	-0.1760	10	0.87932	D	0	.	6.8491	0.24005	0.0:0.714:0.1771:0.1089	.	146	P11509	CP2A6_HUMAN	K	146	ENSP00000301141:E146K	ENSP00000301141:E146K	E	-	1	0	CYP2A6	46046416	0.919000	0.31177	0.236000	0.24074	0.340000	0.28889	2.445000	0.44899	0.023000	0.15187	-0.544000	0.04233	GAG		0.692	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		T	41354576	C	T	41354576	3	4	29	1	0	0	0	0	1	0	0	0	4162	893	31	1	1076	1	CYP2A6	19	41354576	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	635118	41354576	17774407	67	2178											
C20orf166	128826	mdanderson.org	37	chr20	61162267	61162267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagaggacccagcaggTggcgcggggagagcccggct	7	3	20	11	4	0	2	0	0	0	2	0	5	0	3	2	7	2	2	2	7	0	0	rs6062251	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr20:61162267T>C	ENST00000370527.3	+	3	859	c.80T>C	c.(79-81)gTg>gCg	p.V27A	C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron|MIR133A2_ENST00000347538.2_RNA	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166											endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			ACCCAGCAGGTGGCGCGGGGA	0.677													C|||	2888	0.576677	0.7042	0.5605	5008	,	,		12968	0.3284		0.6243	False		,,,				2504	0.6227					.											0								C	ALA/VAL	2917,1443		1016,885,279	11	12	12		80	-7.9	0	20	dbSNP_114	12	5233,3313		1652,1929,692	yes	missense	C20orf166	NM_178463.3	64	2668,2814,971	CC,CT,TT		38.7667,33.0963,36.8511	benign	27/118	61162267	8150,4756	2180	4273	6453	SO:0001583	missense	128826			AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"MIR133A2 host gene"						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.80T>C	20.37:g.61162267T>C	ENSP00000359558:p.Val27Ala			Missense_Mutation	SNP	ENST00000370527.3	37	CCDS46627.1	1208	0.5531135531135531	341	0.693089430894309	211	0.5828729281767956	191	0.3339160839160839	465	0.6134564643799473	C	9.871	1.198845	0.22121	0.669037	0.612333	ENSG00000174407	ENST00000370527	T	0.36520	1.25	3.93	-7.86	0.01187	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	8	0.09084	T	0.74	.	3.8336	0.08885	0.2485:0.1229:0.4735:0.1551	rs6062251;rs7268727	27	Q9H1L0	CT166_HUMAN	A	27	ENSP00000359558:V27A	ENSP00000359558:V27A	V	+	2	0	C20orf166	60572712	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.298000	0.01140	-1.689000	0.01434	-0.320000	0.08662	GTG		0.677	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		C	61162267	T	C	61162267	3	2	29	1	0	0	0	0	1	0	0	0	2095	1696	59	2	86	2	C20orf166	20	61162267	Missense_Mutation	SNP	T	TCGA-KM-8442-01A-11D-2310-10		61162267	1863253	68	2179											
PRIC285	85441	mdanderson.org	37	chr20	62195087	62195087	+	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	atgtccctggcagagtaggcAgagcccccatggcccagcgc	8	5	13	15	1	0	2	0	0	0	2	1	2	1	2	4	3	2	3	4	3	1	1	rs310630	byFrequency	TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr20:62195087A>G	ENST00000467148.1	-	8	5157	c.5088T>C	c.(5086-5088)tcT>tcC	p.S1696S	HELZ2_ENST00000427522.2_Silent_p.S1127S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1696					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)										CAGAGTAGGCAGAGCCCCCAT	0.677													G|||	2264	0.452077	0.7141	0.4409	5008	,	,		15038	0.1567		0.4732	False		,,,				2504	0.3885					.											0								G	,	2906,1454		977,952,251	13	14	14		5088,3381	-2.3	0	20	dbSNP_79	14	3958,4606		948,2062,1272	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	1925,3014,1523	GG,GA,AA		46.2167,33.3486,46.8895	,	1696/2650,1127/2081	62195087	6864,6060	2180	4282	6462	SO:0001819	synonymous_variant	85441			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.5088T>C	20.37:g.62195087A>G			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62195087	A	G	62195087	2	3	29	1	0	0	0	0	0	0	0	1	12485	175	7	2		2	PRIC285	20	62195087	Silent	SNP	A	TCGA-KM-8442-01A-11D-2310-10	1032820	62195087	830433	69	2180											
BAGE2	85319	mdanderson.org	37	chr21	11058197	11058197	+	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	gtcaatgtgttctggacaaaGcaggaagatgtgactgaaat	14	10	12	5	0	2	3	1	2	1	1	2	5	2	5	0	2	1	2	0	2	4	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr21:11058197G>A	ENST00000470054.1	-	0	450							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)		TCTGGACAAAGCAGGAAGATG	0.393																																						.											0													87	71	76					21																	11058197		692	1591	2283			85319			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.11058197G>A			A8K925|Q08ER0	Silent	SNP	ENST00000470054.1	37																																																																																					0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11058197	G	A	11058197	1	1	29	0	1	0	0	0	0	0	0	0	1292	963	34	4		4	BAGE2	21	11058197	RNA	SNP	G	TCGA-KM-8442-01A-11D-2310-10		11058197	37071698	70	2181											
SON	6651	broad.mit.edu	37	chr21	34927419	34927420	+	Frame_Shift_Ins	INS	-	-	C																															cgccgcagccgcacccccagINSccgccgcagccgcaccccca																										TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr21:34927419_34927420insC	ENST00000356577.4	+	3	6357_6358	c.5882_5883insC	c.(5881-5886)agccgcfs	p.R1962fs	SON_ENST00000300278.4_Frame_Shift_Ins_p.R1962fs|SON_ENST00000290239.6_Frame_Shift_Ins_p.R1962fs|SON_ENST00000381679.4_Frame_Shift_Ins_p.R1962fs|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1962	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				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						cgcacccccagccgccgcagcc	0.713																																						.											0																																										SO:0001589	frameshift_variant	6651			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.5884dupC	21.37:g.34927421_34927421dupC	ENSP00000348984:p.Arg1962fs		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Frame_Shift_Ins	INS	ENST00000356577.4	37	CCDS13629.1																																																																																				0.713	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34927420	-	C	34927419	7	5	29	1	0	1	1	0	0	0	0	0	14926	971	34	0	5892	0	SON	21	34927419	Frame_Shift_Ins	INS	-	TCGA-KM-8442-01A-11D-2310-10	23869222	34927419	13202476	71	2182											
DGCR8	54487	broad.mit.edu	37	chr22	20094117	20094117	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgttttctcttaaagaaAccatgggatgggtgacacgt	10	13	11	7	1	2	2	0	1	2	1	3	3	2	3	1	2	1	1	1	2	3	3			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr22:20094117A>G	ENST00000351989.3	+	11	2321	c.1892A>G	c.(1891-1893)aAc>aGc	p.N631S	DGCR8_ENST00000383024.2_Missense_Mutation_p.N598S|DGCR8_ENST00000407755.1_Missense_Mutation_p.N598S	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	631	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCTTAAAGAAACCATGGGATG	0.532																																						.											0													106	103	104					22																	20094117		2203	4300	6503	SO:0001583	missense	54487			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.1892A>G	22.37:g.20094117A>G	ENSP00000263209:p.Asn631Ser		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093845	0.76870	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.77229	-1.08;-1.08;-1.08	4.97	4.97	0.65823	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	L	0.48642	1.525	0.80722	D	1	D;D	0.67145	0.996;0.987	D;D	0.77557	0.99;0.931	D	0.85377	0.1117	10	0.72032	D	0.01	-23.0085	13.7567	0.62942	1.0:0.0:0.0:0.0	.	598;631	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	S	631;598;598	ENSP00000263209:N631S;ENSP00000372488:N598S;ENSP00000384726:N598S	ENSP00000263209:N631S	N	+	2	0	DGCR8	18474117	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.420000	0.90256	2.084000	0.62774	0.383000	0.25322	AAC		0.532	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			G	20094117	A	G	20094117	3	3	29	1	0	0	0	0	1	0	0	0	4464	43	2	2	1930	2	DGCR8	22	20094117	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10		20094117	31210449	72	2183											
PIWIL3	440822	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	25124310	25124310	+	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	tttttatgctgtcatatctaCgtttgtcatcattgggcagg	7	18	9	7	1	4	0	3	0	1	0	4	0	4	0	0	2	2	3	0	2	3	7	rs574938118		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr22:25124310C>T	ENST00000332271.5	-	15	2182	c.1766G>A	c.(1765-1767)cGt>cAt	p.R589H	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R471H|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R471H|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	589	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.		R -> C (in dbSNP:rs738826).		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						GTCATATCTACGTTTGTCATC	0.403													C|||	1	0.000199681	8e-04	0	5008	,	,		18874	0		0	False		,,,				2504	0					.											0													158	145	150					22																	25124310		2203	4300	6503	SO:0001583	missense	440822			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.1766G>A	22.37:g.25124310C>T	ENSP00000330031:p.Arg589His			Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309628	0.23821	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.29655	1.56;1.56;1.56	2.71	0.392	0.16288	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.394272	0.26352	N	0.024871	T	0.13457	0.0326	N	0.17631	0.505	0.19575	N	0.999967	P;B;B	0.35700	0.516;0.0;0.0	B;B;B	0.22152	0.038;0.0;0.0	T	0.13683	-1.0500	10	0.72032	D	0.01	0.0032	5.9588	0.19289	0.0:0.2603:0.0:0.7397	.	471;580;589	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	H	589;471;471	ENSP00000330031:R589H;ENSP00000431843:R471H;ENSP00000435718:R471H	ENSP00000330031:R589H	R	-	2	0	PIWIL3	23454310	0.960000	0.32886	0.000000	0.03702	0.001000	0.01503	1.185000	0.32065	-0.076000	0.12775	-0.458000	0.05436	CGT		0.403	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		T	25124310	C	T	25124310	3	4	29	1	0	0	0	0	1	0	0	0	11959	536	19	1	910	1	PIWIL3	22	25124310	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	5030193	25124310	26180256	73	2184											
MOV10L1	54456	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	50581577	50581577	+	Missense_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	gattctgagtggtgactgccGtcccctcccgtatattctct	5	14	9	13	2	2	2	0	2	2	0	5	3	4	2	4	1	1	1	4	1	2	4	rs140536899		TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chr22:50581577G>A	ENST00000262794.5	+	17	2368	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	MOV10L1_ENST00000540615.1_Missense_Mutation_p.R742H|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R762H|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R762H|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	762					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGACTGCCGTCCCCTCCCG	0.468																																						.											0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	132	139	136		2285,2225,2285	5.6	1	22	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	762/1166,742/1166,762/1212	50581577	1,13005	2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2285G>A	22.37:g.50581577G>A	ENSP00000262794:p.Arg762His		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252396	0.80135	2.27E-4	0.0	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86956	-2.01;-2.01;-1.61;-2.19	5.61	5.61	0.85477	.	0.049309	0.85682	D	0.000000	D	0.93096	0.7802	M	0.68728	2.09	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	D	0.93039	0.6455	10	0.62326	D	0.03	-19.6794	19.6476	0.95789	0.0:0.0:1.0:0.0	.	523;742;762;762	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	H	762;762;762;742	ENSP00000438978:R762H;ENSP00000262794:R762H;ENSP00000379199:R762H;ENSP00000438542:R742H	ENSP00000262794:R762H	R	+	2	0	MOV10L1	48923704	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	7.388000	0.79795	2.647000	0.89833	0.655000	0.94253	CGT		0.468	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		A	50581577	G	A	50581577	3	1	29	1	0	0	0	0	1	0	0	0	9719	1145	40	1	2392	1	MOV10L1	22	50581577	Missense_Mutation	SNP	G	TCGA-KM-8442-01A-11D-2310-10	25457267	50581577	722989	74	2185											
CACNA1F	778	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	49084509	49084509	+	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	gtccctcacccactcaggacGccaagcacaaggttgaggac	11	5	10	15	1	2	1	2	1	0	0	3	3	3	3	3	3	1	2	3	3	2	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chrX:49084509G>A	ENST00000376265.2	-	8	1168	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	CACNA1F_ENST00000376251.1_Silent_p.G304G|CACNA1F_ENST00000323022.5_Silent_p.G369G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	369			G -> D (in CSNB2A). {ECO:0000269|PubMed:11281458, ECO:0000269|PubMed:12111638, ECO:0000269|PubMed:9662399}.		axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CACTCAGGACGCCAAGCACAA	0.552																																						.											0													115	72	87					X																	49084509		2203	4300	6503	SO:0001819	synonymous_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1107C>T	X.37:g.49084509G>A			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	CCDS35253.1																																																																																				0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		A	49084509	G	A	49084509	2	1	29	1	0	0	0	0	0	0	0	1	2543	1074	38	1		1	CACNA1F	23	49084509	Silent	SNP	G	TCGA-KM-8442-01A-11D-2310-10		49084509	106186051	75	2186											
SLC7A3	84889	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	70145693	70145693	+	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	tggacatagagagtgccgggAtcaaggtctacagttttggc	10	10	14	7	1	2	1	1	0	1	1	2	4	2	3	1	4	2	1	1	4	3	4			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chrX:70145693A>T	ENST00000374299.3	-	12	1974	c.1830T>A	c.(1828-1830)gaT>gaA	p.D610E	SLC7A3_ENST00000298085.4_Missense_Mutation_p.D610E			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	610					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)	GAGTGCCGGGATCAAGGTCTA	0.502																																						.											0													247	189	208					X																	70145693		2203	4300	6503	SO:0001583	missense	84889			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.1830T>A	X.37:g.70145693A>T	ENSP00000363417:p.Asp610Glu		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762611	0.31228	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.87966	-2.32;-2.32	4.41	-3.07	0.05363	.	0.364776	0.31268	N	0.007942	T	0.61160	0.2325	N	0.08118	0	0.25017	N	0.991362	B	0.09022	0.002	B	0.10450	0.005	T	0.57254	-0.7843	10	0.02654	T	1	.	2.9368	0.05817	0.3414:0.0:0.3184:0.3402	.	610	Q8WY07	CTR3_HUMAN	E	610	ENSP00000363417:D610E;ENSP00000298085:D610E	ENSP00000298085:D610E	D	-	3	2	SLC7A3	70062418	0.950000	0.32346	0.771000	0.31576	0.057000	0.15508	0.389000	0.20751	-0.392000	0.07751	0.314000	0.21332	GAT		0.502	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		T	70145693	A	T	70145693	3	4	29	1	0	0	0	0	1	0	0	0	14698	330	12	5	33	5	SLC7A3	23	70145693	Missense_Mutation	SNP	A	TCGA-KM-8442-01A-11D-2310-10	21061184	70145693	85124867	76	2187											
PCDH11X	27328	mdanderson.org	37	chrX	91134112	91134112	+	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	gcctgaaactcccctgaattCgaagcaccacatcatccaag	13	7	6	15	1	1	2	1	2	0	0	4	3	3	2	5	0	2	1	5	0	4	1			TCGA-KM-8442-01A-11D-2310-10	TCGA-KM-8442-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9fb73d89-f7c4-47b2-810b-3ce37cd8a3c9	6fc570c7-dca7-4892-bbf8-94afd186a057	g.chrX:91134112C>T	ENST00000373094.1	+	2	3718	c.2873C>T	c.(2872-2874)tCg>tTg	p.S958L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S958L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S958L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S958L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S958L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S958L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S958L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S958L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S958L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	958					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCCTGAATTCGAAGCACCAC	0.507																																					NSCLC(38;925 1092 2571 38200 45895)	.											0													252	207	222					X																	91134112		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2873C>T	X.37:g.91134112C>T	ENSP00000362186:p.Ser958Leu		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.272807	0.23221	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.82	3.06	0.35304	Protocadherin (1);	0.195197	0.44285	N	0.000476	T	0.30230	0.0758	M	0.65498	2.005	0.30108	N	0.806795	B;B;B;B;B;B;B;B	0.19073	0.027;0.027;0.027;0.027;0.027;0.033;0.027;0.027	B;B;B;B;B;B;B;B	0.18263	0.013;0.013;0.013;0.013;0.013;0.021;0.013;0.013	T	0.20907	-1.0261	10	0.39692	T	0.17	.	9.5293	0.39185	0.0:0.8253:0.0:0.1747	.	958;958;958;958;958;958;958;958	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	958	ENSP00000378746:S958L;ENSP00000362186:S958L;ENSP00000362189:S958L;ENSP00000355040:S958L;ENSP00000362180:S958L;ENSP00000423762:S958L;ENSP00000355105:S958L;ENSP00000384758:S958L;ENSP00000298274:S958L	ENSP00000298274:S958L	S	+	2	0	PCDH11X	91020768	1.000000	0.71417	0.880000	0.34516	0.809000	0.45718	3.614000	0.54160	0.460000	0.27045	-0.192000	0.12808	TCG		0.507	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91134112	C	T	91134112	3	4	29	1	0	0	0	0	1	0	0	0	11508	893	31	1	2879	1	PCDH11X	23	91134112	Missense_Mutation	SNP	C	TCGA-KM-8442-01A-11D-2310-10	20988419	91134112	64136448	77	2188											
ZBTB48	3104	ucsc.edu	37	chr1	6646821	6646821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggtgcacatggtgTctcacacaggggagatgccc	8	7	15	11	1	1	1	1	0	1	1	2	2	1	1	1	4	4	2	1	4	0	0			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr1:6646821T>C	ENST00000377674.4	+	5	1269	c.1111T>C	c.(1111-1113)Tct>Cct	p.S371P		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	371					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)		GCACATGGTGTCTCACACAGG	0.632																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	.											0													94	69	78					1																	6646821		2203	4300	6503	SO:0001583	missense	3104			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.1111T>C	1.37:g.6646821T>C	ENSP00000366902:p.Ser371Pro		Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	CCDS84.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755996	0.69648	.	.	ENSG00000204859	ENST00000377674;ENST00000545645	T	0.19105	2.17	5.62	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.148877	0.64402	D	0.000006	T	0.35008	0.0917	L	0.49256	1.55	0.44635	D	0.997611	P	0.47841	0.901	P	0.57548	0.823	T	0.05801	-1.0863	10	0.72032	D	0.01	-36.1725	12.3143	0.54946	0.0:0.0:0.1416:0.8583	.	371	P10074	ZBT48_HUMAN	P	371;9	ENSP00000366902:S371P	ENSP00000366902:S371P	S	+	1	0	ZBTB48	6569408	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.631000	0.37092	1.053000	0.40415	0.459000	0.35465	TCT		0.632	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		C	6646821	T	C	6646821	3	2	30	1	0	0	0	0	1	0	0	0	17546	1667	58	2	1125	2	ZBTB48	1	6646821	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		6646821	242603800	1	2189											
HSPG2	3339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	22207292	22207292	+	Missense_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	gccacgggccaactcgtagcGcacgttgtaacgcagggagc	9	5	14	13	5	0	0	0	0	0	0	1	1	0	1	2	2	4	5	2	2	3	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr1:22207292G>A	ENST00000374695.3	-	15	1934	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	619	Laminin IV type A 1. {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)	AACTCGTAGCGCACGTTGTAA	0.657																																						.											0													31	31	31					1																	22207292		2195	4289	6484	SO:0001583	missense	3339			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.1855C>T	1.37:g.22207292G>A	ENSP00000363827:p.Arg619Cys		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436733	0.62955	.	.	ENSG00000142798	ENST00000374695	T	0.37584	1.19	5.51	4.59	0.56863	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.40302	N	0.001137	T	0.60663	0.2286	M	0.80982	2.52	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.65697	-0.6105	10	0.87932	D	0	.	11.9832	0.53131	0.0846:0.0:0.9154:0.0	.	619	P98160	PGBM_HUMAN	C	619	ENSP00000363827:R619C	ENSP00000363827:R619C	R	-	1	0	HSPG2	22079879	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	3.767000	0.55288	1.313000	0.45069	0.561000	0.74099	CGC		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22207292	G	A	22207292	3	1	30	1	0	0	0	0	1	0	0	0	7430	1087	38	1	11652	1	HSPG2	1	22207292	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	15560471	22207292	227043329	2	2190											
ASXL2	55252	broad.mit.edu;hgsc.bcm.edu	37	chr2	25966455	25966455	+	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	gaagctgctggcaaagtgctCgagggtggagctgatccagc	9	7	16	9	1	0	1	0	1	0	0	2	4	1	2	1	3	5	5	1	3	2	0			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr2:25966455C>T	ENST00000435504.4	-	13	3044	c.2751G>A	c.(2749-2751)tcG>tcA	p.S917S	ASXL2_ENST00000336112.4_Silent_p.S889S|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	917					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)					GCAAAGTGCTCGAGGGTGGAG	0.473																																						.											0													96	98	97					2																	25966455		1935	4140	6075	SO:0001819	synonymous_variant	55252					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.2751G>A	2.37:g.25966455C>T			Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37																																																																																					0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		T	25966455	C	T	25966455	2	4	30	1	0	0	0	0	0	0	0	1	1067	871	31	1		1	ASXL2	2	25966455	Silent	SNP	C	TCGA-KM-8443-01A-11D-2310-10		25966455	217232918	3	2191											
CCT7	10574	ucsc.edu	37	chr2	73467611	73467611	+	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	gccacaattctgaaacttctTgatgttgtccatcctgcagc	9	13	7	12	0	2	2	0	2	2	0	4	2	4	2	3	0	3	2	3	0	2	4			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr2:73467611T>C	ENST00000258091.5	+	3	348	c.207T>C	c.(205-207)ctT>ctC	p.L69L	CCT7_ENST00000398422.2_Intron|CCT7_ENST00000539919.1_Silent_p.L25L|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000537131.1_Intron|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000540468.1_Intron	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	69					'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)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGAAACTTCTTGATGTTGTCC	0.383																																						.											0													119	111	114					2																	73467611		1858	4101	5959	SO:0001819	synonymous_variant	10574			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.207T>C	2.37:g.73467611T>C			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	37	CCDS46336.1																																																																																				0.383	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			C	73467611	T	C	73467611	2	2	30	1	0	0	0	0	0	0	0	1	2959	1799	63	4		4	CCT7	2	73467611	Silent	SNP	T	TCGA-KM-8443-01A-11D-2310-10	47501156	73467611	169731762	4	2192											
NBEAL2	23218	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	47041771	47041771	+	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	actccttcgccactggatggGccgcggccctttcctgctgc	3	10	11	17	3	0	0	0	0	0	0	3	1	2	1	5	3	2	1	5	3	0	2			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:47041771G>A	ENST00000450053.3	+	27	4361	c.4182G>A	c.(4180-4182)ggG>ggA	p.G1394G	NBEAL2_ENST00000292309.5_Silent_p.G1210G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1394					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)		CACTGGATGGGCCGCGGCCCT	0.642																																						.											0													23	28	26					3																	47041771		2074	4213	6287	SO:0001819	synonymous_variant	23218			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.4182G>A	3.37:g.47041771G>A			O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372895	0.05034	.	.	ENSG00000160796	ENST00000416683	T	0.56611	0.45	5.48	1.58	0.23477	.	0.554048	0.19794	N	0.105905	T	0.46425	0.1392	.	.	.	0.51482	D	0.999921	.	.	.	.	.	.	T	0.31194	-0.9952	7	0.38643	T	0.18	.	2.157	0.03814	0.1597:0.2694:0.4148:0.1562	.	.	.	.	D	682	ENSP00000410405:G682D	ENSP00000410405:G682D	G	+	2	0	NBEAL2	47016775	0.927000	0.31430	0.985000	0.45067	0.362000	0.29581	0.410000	0.21098	0.006000	0.14734	-0.397000	0.06425	GGC		0.642	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47041771	G	A	47041771	2	1	30	1	0	0	0	0	0	0	0	1	10189	1190	42	3		3	NBEAL2	3	47041771	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10		47041771	150980659	5	2193											
BSN	8927	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	49691694	49691694	+	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	catctgacgcctccagccagAccaggatggtacatgccagt	10	7	10	14	1	1	2	0	1	1	1	2	3	2	3	5	2	3	1	5	2	1	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:49691694A>T	ENST00000296452.4	+	5	4819	c.4705A>T	c.(4705-4707)Acc>Tcc	p.T1569S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1569					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)		CTCCAGCCAGACCAGGATGGT	0.607																																						.											0													81	80	81					3																	49691694		2203	4300	6503	SO:0001583	missense	8927			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.4705A>T	3.37:g.49691694A>T	ENSP00000296452:p.Thr1569Ser		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014371	0.35511	.	.	ENSG00000164061	ENST00000296452	T	0.20200	2.09	5.47	4.3	0.51218	.	0.221290	0.46758	D	0.000272	T	0.19208	0.0461	L	0.50333	1.59	0.40821	D	0.983501	B	0.27229	0.172	B	0.24155	0.051	T	0.03761	-1.1006	10	0.29301	T	0.29	.	11.1166	0.48264	0.9274:0.0:0.0726:0.0	.	1569	Q9UPA5	BSN_HUMAN	S	1569	ENSP00000296452:T1569S	ENSP00000296452:T1569S	T	+	1	0	BSN	49666698	1.000000	0.71417	0.992000	0.48379	0.923000	0.55619	1.847000	0.39299	0.917000	0.36895	0.379000	0.24179	ACC		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49691694	A	T	49691694	3	4	30	1	0	0	0	0	1	0	0	0	1530	275	10	5	4723	5	BSN	3	49691694	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	2649923	49691694	148330736	6	2194											
DRD3	1814	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	113890761	113890761	+	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	ggcatagtaggcatgtgggcGggcctggctggcacctgtgg	5	8	19	9	1	0	0	0	0	0	0	0	0	0	0	2	7	0	5	2	7	2	2			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:113890761G>A	ENST00000460779.1	-	3	368	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	DRD3_ENST00000383673.2_Missense_Mutation_p.R27C|DRD3_ENST00000295881.7_Missense_Mutation_p.R27C|DRD3_ENST00000467632.1_Missense_Mutation_p.R27C	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	27					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)	GCATGTGGGCGGGCCTGGCTG	0.627																																						.											0													41	36	38					3																	113890761		2203	4300	6503	SO:0001583	missense	1814				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.79C>T	3.37:g.113890761G>A	ENSP00000419402:p.Arg27Cys		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276566	0.80580	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.0	5.0	0.66597	.	0.587132	0.18863	N	0.129078	T	0.30978	0.0782	N	0.19112	0.55	0.20489	N	0.999893	D;D;D;P	0.63046	0.977;0.977;0.992;0.857	P;P;B;P	0.44860	0.462;0.462;0.386;0.462	T	0.18335	-1.0340	10	0.46703	T	0.11	.	18.4938	0.90856	0.0:0.0:1.0:0.0	.	27;27;27;27	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	C	27	ENSP00000419402:R27C;ENSP00000420662:R27C;ENSP00000373169:R27C;ENSP00000295881:R27C	ENSP00000281274:R27C	R	-	1	0	DRD3	115373451	0.912000	0.30974	0.651000	0.29564	0.276000	0.26787	3.919000	0.56439	2.603000	0.88011	0.655000	0.94253	CGC		0.627	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		A	113890761	G	A	113890761	3	1	30	1	0	0	0	0	1	0	0	0	4758	1116	39	1	1147	1	DRD3	3	113890761	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	64199067	113890761	84131669	7	2195											
TIGIT	201633	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	114018494	114018494	+	Missense_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	cattgcttggagccatggccGcgacgctggtggtcatctgc	5	10	14	12	3	2	0	1	0	1	0	2	2	2	1	2	4	3	2	2	4	0	2	rs369133784		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:114018494G>A	ENST00000486257.1	+	4	699	c.442G>A	c.(442-444)Gcg>Acg	p.A148T	TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T|TIGIT_ENST00000481065.1_Missense_Mutation_p.A215T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	148					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGCCATGGCCGCGACGCTGGT	0.582																																						.											0								G	THR/ALA	0,4406		0,0,2203	91	76	81		442	-8.2	0	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIGIT	NM_173799.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	148/245	114018494	1,13005	2203	4300	6503	SO:0001583	missense	201633			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.442G>A	3.37:g.114018494G>A	ENSP00000419085:p.Ala148Thr		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.340308	0.01277	0.0	1.16E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.56611	0.51;0.45;0.49;0.49;0.51	4.09	-8.19	0.01049	.	1.743640	0.02883	N	0.133134	T	0.29190	0.0726	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.29882	-0.9997	10	0.07813	T	0.8	4.6473	8.6741	0.34167	0.1485:0.0:0.5321:0.3194	.	148	Q495A1	TIGIT_HUMAN	T	127;215;148;148;127	ENSP00000418917:A127T;ENSP00000420552:A215T;ENSP00000419085:A148T;ENSP00000373167:A148T;ENSP00000419706:A127T	ENSP00000373167:A148T	A	+	1	0	TIGIT	115501184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.907000	0.00700	-2.557000	0.00476	-1.140000	0.01884	GCG		0.582	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		A	114018494	G	A	114018494	3	1	30	1	0	0	0	0	1	0	0	0	15899	1087	38	1	452	1	TIGIT	3	114018494	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	127733	114018494	84003936	8	2196											
CLCN2	1181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	184075816	184075816	+	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	atgaccttagctataaaggtCttgagtgtgaggtattcttt	10	16	10	5	0	2	3	0	3	2	0	2	3	2	3	1	2	1	2	1	2	5	7			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:184075816C>G	ENST00000265593.4	-	5	720	c.549G>C	c.(547-549)aaG>aaC	p.K183N	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.K139N|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.K183N|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.K183N	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	183					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTATAAAGGTCTTGAGTGTGA	0.562																																						.											0													85	81	82					3																	184075816		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.549G>C	3.37:g.184075816C>G	ENSP00000265593:p.Lys183Asn		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	17.24	3.340551	0.60963	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54	4.34	4.34	0.51931	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	M	0.81497	2.545	0.80722	D	1	P;P;D;P;P	0.76494	0.936;0.931;0.999;0.553;0.733	P;P;D;B;P	0.74674	0.827;0.635;0.984;0.35;0.538	D	0.96554	0.9410	10	0.87932	D	0	-20.6668	10.337	0.43856	0.0:0.9085:0.0:0.0915	.	183;139;183;183;183	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	N	183;183;139;183	ENSP00000265593:K183N;ENSP00000345056:K183N;ENSP00000400425:K139N;ENSP00000391928:K183N	ENSP00000265593:K183N	K	-	3	2	CLCN2	185558510	0.981000	0.34729	1.000000	0.80357	0.907000	0.53573	0.165000	0.16564	2.250000	0.74265	0.462000	0.41574	AAG		0.562	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			G	184075816	C	G	184075816	3	3	30	1	0	0	0	0	1	0	0	0	3463	912	32	5	2227	5	CLCN2	3	184075816	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	70057322	184075816	13946614	9	2197											
TNK2	10188	broad.mit.edu	37	chr3	195594314	195594314	+	Frame_Shift_Del	DEL	G	G	-																															gcagccgagcagtggccctcGggggtggtggccgggcccct																										TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr3:195594314delG	ENST00000333602.6	-	12	3427	c.2810delC	c.(2809-2811)ccgfs	p.P937fs	TNK2_ENST00000428187.1_Frame_Shift_Del_p.P969fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.P937fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P1015fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	937	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGTGGCCCTCGGGGGTGGTGG	0.716																																						.											0													7	10	9					3																	195594314		2037	4141	6178	SO:0001589	frameshift_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2810delC	3.37:g.195594314delG	ENSP00000329425:p.Pro937fs		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	ENST00000333602.6	37	CCDS33928.1																																																																																				0.716	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		-	195594314	G	-	195594314	7	5	30	1	0	1	0	1	0	0	0	0	16315	1116	39	0	322	0	TNK2	3	195594314	Frame_Shift_Del	DEL	G	TCGA-KM-8443-01A-11D-2310-10	11518498	195594314	2428116	10	2198											
UGT2B4	7363	mdanderson.org	37	chr4	70361420	70361420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagatgccaatacagTcacctcatgacctctctgga	12	9	8	12	0	3	3	2	2	1	1	4	4	3	4	3	1	3	1	3	1	3	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr4:70361420T>C	ENST00000305107.6	-	1	206	c.160A>G	c.(160-162)Act>Gct	p.T54A	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.T54A|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	54					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GCCAATACAGTCACCTCATGA	0.423																																						.											0													111	115	113					4																	70361420		2202	4300	6502	SO:0001583	missense	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.160A>G	4.37:g.70361420T>C	ENSP00000305221:p.Thr54Ala		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158757	0.57368	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	T;T;T	0.70516	-0.49;-0.49;0.28	2.41	2.41	0.29592	.	0.000000	0.64402	U	0.000014	T	0.80539	0.4642	M	0.88450	2.955	0.80722	D	1	D;P	0.63046	0.992;0.925	P;P	0.56648	0.775;0.803	T	0.82127	-0.0611	10	0.87932	D	0	.	8.376	0.32442	0.0:0.0:0.0:1.0	.	54;54	G5E9X8;P06133	.;UD2B4_HUMAN	A	54	ENSP00000421290:T54A;ENSP00000305221:T54A;ENSP00000421113:T54A	ENSP00000305221:T54A	T	-	1	0	UGT2B4	70396009	0.525000	0.26290	0.459000	0.27081	0.088000	0.18126	1.953000	0.40352	1.105000	0.41606	0.254000	0.18369	ACT		0.423	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		C	70361420	T	C	70361420	3	2	30	1	0	0	0	0	1	0	0	0	16958	1667	58	2	1450	2	UGT2B4	4	70361420	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		70361420	120792856	11	2199											
SNX25	83891	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	186283807	186283807	+	Missense_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	acagcaaaatgcccgccacgGtataataaaaatattcaatg	18	8	6	9	2	1	0	1	0	0	0	1	0	1	0	2	1	2	2	2	1	9	5			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr4:186283807G>A	ENST00000504273.1	+	18	2678	c.2384G>A	c.(2383-2385)gGt>gAt	p.G795D	SNX25_ENST00000264694.8_Missense_Mutation_p.G795D|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	795					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)		GCCCGCCACGGTATAATAAAA	0.383																																						.											0													152	168	163					4																	186283807		2203	4300	6503	SO:0001583	missense	83891			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.2384G>A	4.37:g.186283807G>A	ENSP00000426255:p.Gly795Asp		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490916	0.84962	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.36157	1.27;1.27	5.09	4.22	0.49857	Sorting nexin, C-terminal (1);	0.108154	0.64402	D	0.000005	T	0.64918	0.2642	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	0.991;1.0;0.993	T	0.72077	-0.4399	10	0.87932	D	0	-17.0607	15.7978	0.78424	0.0:0.1355:0.8645:0.0	.	511;328;795	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	D	795;795;328	ENSP00000426255:G795D;ENSP00000264694:G795D	ENSP00000264693:G328D	G	+	2	0	SNX25	186520801	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	8.748000	0.91615	2.667000	0.90743	0.561000	0.74099	GGT		0.383	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		A	186283807	G	A	186283807	3	1	30	1	0	0	0	0	1	0	0	0	14896	1261	44	3	2450	3	SNX25	4	186283807	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	115922387	186283807	4870469	12	2200											
KIAA0947	23379	broad.mit.edu;hgsc.bcm.edu	37	chr5	5463283	5463284	+	Frame_Shift_Ins	INS	-	-	TA																															aattctgaagattgcaatggINStaaagatactggcagtttat																										TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:5463283_5463284insTA	ENST00000296564.7	+	13	4058_4059	c.3836_3837insTA	c.(3835-3840)ggtaaafs	p.K1280fs		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1280					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						GATTGCAATGGTAAAGATACTG	0.371																																						.											0																																										SO:0001589	frameshift_variant	23379																														ENST00000296564.7:c.3837_3838dupTA	5.37:g.5463284_5463285dupTA	ENSP00000296564:p.Lys1280fs		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Frame_Shift_Ins	INS	ENST00000296564.7	37	CCDS47187.1																																																																																				0.371	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			TA	5463284	-	TA	5463283	7	5	30	1	0	1	1	0	0	0	0	0	8202	1261	44	0	3886	0	KIAA0947	5	5463283	Frame_Shift_Ins	INS	-	TCGA-KM-8443-01A-11D-2310-10		5463283	175451977	13	2201	63	2									
KIAA0947	23379	bcgsc.ca	37	chr5	5463284	5463285	+	Frame_Shift_Ins	INS	-	-	TA																															attctgaagattgcaatggtINSaaagatactggcagtttatt																										TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:5463284_5463285insTA	ENST00000296564.7	+	13	4059_4060	c.3837_3838insTA	c.(3838-3840)aaafs	p.K1280fs		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1280					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						ATTGCAATGGTAAAGATACTGG	0.376																																						.											0																																										SO:0001589	frameshift_variant	23379																														Exception_encountered	5.37:g.5463284_5463285insTA	ENSP00000296564:p.Lys1280fs		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Frame_Shift_Ins	INS	ENST00000296564.7	37	CCDS47187.1																																																																																				0.376	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			TA	5463285	-	TA	5463284	7	5	30	1	0	1	1	0	0	0	0	0	8202	1625	57	0	3887	0	KIAA0947	5	5463284	Frame_Shift_Ins	INS	-	TCGA-KM-8443-01A-11D-2310-10	1	5463284	175451976	14	2202	63	2									
TAS2R1	50834	hgsc.bcm.edu;ucsc.edu	37	chr5	9629359	9629359	+	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	tatataccaatcacaaggatGaagaacagaaagatgaacct	20	7	7	7	0	1	5	1	2	0	3	1	6	1	6	2	1	3	0	2	1	9	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:9629359G>A	ENST00000382492.2	-	1	1104	c.786C>T	c.(784-786)ttC>ttT	p.F262F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	262					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						TCACAAGGATGAAGAACAGAA	0.373																																						.											0													99	103	102					5																	9629359		2203	4300	6503	SO:0001819	synonymous_variant	50834			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.786C>T	5.37:g.9629359G>A			Q646G8	Silent	SNP	ENST00000382492.2	37	CCDS3876.1																																																																																				0.373	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			A	9629359	G	A	9629359	2	1	30	1	0	0	0	0	0	0	0	1	15562	1281	45	4		4	TAS2R1	5	9629359	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10	4166075	9629359	171285901	15	2203											
GPBP1	65056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	56545266	56545266	+	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	caaattcctcttctcctgttGacaaacttaatcagcagcct	11	13	4	13	0	3	1	1	1	2	0	5	1	4	1	3	0	3	2	3	0	3	4			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:56545266G>A	ENST00000506184.2	+	9	1940	c.835G>A	c.(835-837)Gac>Aac	p.D279N	GPBP1_ENST00000454432.2_Missense_Mutation_p.D299N|GPBP1_ENST00000538707.1_Missense_Mutation_p.D286N|GPBP1_ENST00000424459.3_Missense_Mutation_p.D299N|GPBP1_ENST00000511209.1_Intron|GPBP1_ENST00000514387.2_Missense_Mutation_p.D108N|GPBP1_ENST00000264779.6_Missense_Mutation_p.D286N			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	279					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCTCCTGTTGACAAACTTAA	0.363																																						.											0													104	97	100					5																	56545266		2202	4298	6500	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.835G>A	5.37:g.56545266G>A	ENSP00000421202:p.Asp279Asn		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240017	0.95240	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000264779;ENST00000538707	T;T;T;T;T;T	0.49139	1.79;0.79;1.8;1.79;1.83;1.82	6.16	6.16	0.99307	.	0.111909	0.64402	D	0.000006	T	0.68165	0.2971	M	0.61703	1.905	0.41698	D	0.989386	D;P;P	0.71674	0.998;0.72;0.72	D;P;B	0.81914	0.995;0.506;0.429	T	0.67086	-0.5759	10	0.62326	D	0.03	-12.6167	19.0403	0.92995	0.0:0.0:1.0:0.0	.	299;286;279	D4PHA4;Q86WP2-2;Q86WP2	.;.;GPBP1_HUMAN	N	299;108;279;299;286;286	ENSP00000401596:D299N;ENSP00000421709:D108N;ENSP00000421202:D279N;ENSP00000403522:D299N;ENSP00000264779:D286N;ENSP00000440090:D286N	ENSP00000264779:D286N	D	+	1	0	GPBP1	56581023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.747000	0.74872	2.937000	0.99478	0.650000	0.86243	GAC		0.363	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		A	56545266	G	A	56545266	3	1	30	1	0	0	0	0	1	0	0	0	6595	1290	45	4	886	4	GPBP1	5	56545266	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	46915907	56545266	124369994	16	2204											
GPBP1	65056	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	56545374	56545374	+	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	acagagtagaagaggaacatGaagatgaaagccgtgctggc	16	5	14	6	1	0	6	0	2	0	4	0	7	0	7	1	2	3	2	1	2	5	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:56545374G>A	ENST00000506184.2	+	9	2048	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	GPBP1_ENST00000454432.2_Missense_Mutation_p.E335K|GPBP1_ENST00000538707.1_Missense_Mutation_p.E322K|GPBP1_ENST00000424459.3_Missense_Mutation_p.E335K|GPBP1_ENST00000511209.1_Missense_Mutation_p.E307K|GPBP1_ENST00000514387.2_Missense_Mutation_p.E144K|GPBP1_ENST00000264779.6_Missense_Mutation_p.E322K			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	315					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AGAGGAACATGAAGATGAAAG	0.373																																						.											0													94	94	94					5																	56545374		2201	4299	6500	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.943G>A	5.37:g.56545374G>A	ENSP00000421202:p.Glu315Lys		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067775	0.76301	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.50548	1.77;0.74;1.78;1.77;1.79;1.75;1.76	6.16	6.16	0.99307	.	0.100833	0.64402	D	0.000002	T	0.59932	0.2230	L	0.31926	0.97	0.45464	D	0.998434	B;B;D;B	0.67145	0.027;0.004;0.996;0.004	B;B;D;B	0.76071	0.031;0.011;0.987;0.006	T	0.55566	-0.8121	10	0.45353	T	0.12	-17.1056	18.0158	0.89239	0.0:0.0:1.0:0.0	.	335;322;307;315	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	K	335;144;315;335;307;322;322	ENSP00000401596:E335K;ENSP00000421709:E144K;ENSP00000421202:E315K;ENSP00000403522:E335K;ENSP00000422337:E307K;ENSP00000264779:E322K;ENSP00000440090:E322K	ENSP00000264779:E322K	E	+	1	0	GPBP1	56581131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	2.937000	0.99478	0.650000	0.86243	GAA		0.373	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		A	56545374	G	A	56545374	3	1	30	1	0	0	0	0	1	0	0	0	6595	1291	45	4	994	4	GPBP1	5	56545374	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	108	56545374	124369886	17	2205											
MAP1B	4131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	71493836	71493836	+	Missense_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	atatggagggtgtggcctcaGtgtccacagcctcagtggct	7	10	14	10	0	2	0	2	0	0	0	3	1	3	1	3	4	1	1	3	4	1	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:71493836G>A	ENST00000296755.7	+	5	4952	c.4654G>A	c.(4654-4656)Gtg>Atg	p.V1552M		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1552					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)		TGTGGCCTCAGTGTCCACAGC	0.517																																					Melanoma(17;367 822 11631 31730 47712)	.											0													112	94	100					5																	71493836		2203	4300	6503	SO:0001583	missense	4131			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.4654G>A	5.37:g.71493836G>A	ENSP00000296755:p.Val1552Met		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769918	0.49680	.	.	ENSG00000131711	ENST00000296755	T	0.03580	3.88	5.19	5.19	0.71726	.	0.000000	0.56097	D	0.000032	T	0.10380	0.0254	N	0.24115	0.695	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.956	T	0.18587	-1.0332	10	0.72032	D	0.01	-16.387	18.7095	0.91651	0.0:0.0:1.0:0.0	.	1426;1552	A2BDK6;P46821	.;MAP1B_HUMAN	M	1552	ENSP00000296755:V1552M	ENSP00000296755:V1552M	V	+	1	0	MAP1B	71529592	1.000000	0.71417	0.907000	0.35723	0.750000	0.42670	9.869000	0.99810	2.435000	0.82474	0.313000	0.20887	GTG		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71493836	G	A	71493836	3	1	30	1	0	0	0	0	1	0	0	0	9228	1029	36	4	4672	4	MAP1B	5	71493836	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	14948462	71493836	109421424	18	2206											
RASA1	5921	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	86675579	86675579	+	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	catcaaagttagaaaaaaatGaagatgtgaacactaattta	21	10	6	4	0	1	4	1	2	0	2	1	4	1	4	0	0	1	1	0	0	9	4			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:86675579G>A	ENST00000274376.6	+	19	3079	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	RASA1_ENST00000456692.2_Missense_Mutation_p.E662K|RASA1_ENST00000506290.1_Missense_Mutation_p.E673K|RASA1_ENST00000512763.1_Missense_Mutation_p.E672K|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	839	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGAAAAAAATGAAGATGTGAA	0.318																																						.											0													81	82	82					5																	86675579		2203	4296	6499	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2515G>A	5.37:g.86675579G>A	ENSP00000274376:p.Glu839Lys		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995383	0.74703	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.06	5.06	0.68205	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.046382	0.85682	D	0.000000	T	0.27454	0.0674	M	0.69185	2.1	0.80722	D	1	B;B;B;B;B	0.25743	0.004;0.057;0.133;0.046;0.088	B;B;B;B;B	0.20577	0.004;0.03;0.03;0.017;0.011	T	0.04678	-1.0934	10	0.42905	T	0.14	.	18.8001	0.92013	0.0:0.0:1.0:0.0	.	673;672;673;662;839	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	K	839;662;672;673	ENSP00000274376:E839K;ENSP00000411221:E662K;ENSP00000422008:E672K;ENSP00000420905:E673K	ENSP00000274376:E839K	E	+	1	0	RASA1	86711335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.745000	0.98856	2.500000	0.84329	0.655000	0.94253	GAA		0.318	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		A	86675579	G	A	86675579	3	1	30	1	0	0	0	0	1	0	0	0	13060	1291	45	4	2601	4	RASA1	5	86675579	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	15181743	86675579	94239681	19	2207											
EBF1	1879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr5	158526463	158526463	+	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	atgctgcttccactccgttgGatgctttcctgaatcccaaa	8	13	7	13	1	0	1	0	1	0	0	4	2	4	2	4	1	3	4	4	1	2	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr5:158526463G>T	ENST00000313708.6	-	1	306	c.24C>A	c.(22-24)atC>atA	p.I8I	EBF1_ENST00000380654.4_Silent_p.I8I|EBF1_ENST00000517373.1_Silent_p.I8I|RP11-175K6.1_ENST00000499583.1_lincRNA|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	8					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)			CACTCCGTTGGATGCTTTCCT	0.493			T	HMGA2	lipoma																																	.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													103	120	115					5																	158526463		2203	4300	6503	SO:0001819	synonymous_variant	1879			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.24C>A	5.37:g.158526463G>T			Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																				0.493	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		T	158526463	G	T	158526463	2	4	30	1	0	0	0	0	0	0	0	1	4880	1164	41	5		5	EBF1	5	158526463	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10	71850884	158526463	22388797	20	2208											
PPP1R11	6992	broad.mit.edu	37	chr6	30035207	30035207	+	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	catggccgaggcaggggctgGgctgagcgagaccgtcactg	7	5	18	11	3	1	2	1	1	0	1	1	4	1	2	2	5	1	3	2	5	0	0			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr6:30035207G>A	ENST00000376772.3	+	1	343	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PPP1R11_ENST00000376765.2_5'Flank|PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376763.1_5'Flank|PPP1R11_ENST00000376773.1_Intron|PPP1R11_ENST00000376758.1_5'Flank	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	7						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GCAGGGGCTGGGCTGAGCGAG	0.607																																					Pancreas(185;1767 3918 43793)	.											0													57	56	56					6																	30035207		2203	4300	6503	SO:0001583	missense	6992			X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.20G>A	6.37:g.30035207G>A	ENSP00000365963:p.Gly7Glu			Missense_Mutation	SNP	ENST00000376772.3	37	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097254	0.56075	.	.	ENSG00000204619	ENST00000376772	.	.	.	5.15	5.15	0.70609	.	0.189098	0.45361	D	0.000364	T	0.22742	0.0549	N	0.14661	0.345	0.80722	D	1	B	0.18863	0.031	B	0.13407	0.009	T	0.08249	-1.0731	9	0.15499	T	0.54	-0.3005	13.998	0.64414	0.0:0.0:1.0:0.0	.	7	O60927	PP1RB_HUMAN	E	7	.	ENSP00000365963:G7E	G	+	2	0	PPP1R11	30143186	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.711000	0.61881	2.683000	0.91414	0.643000	0.83706	GGG		0.607	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		A	30035207	G	A	30035207	3	1	30	1	0	0	0	0	1	0	0	0	12353	1232	43	3	22	3	PPP1R11	6	30035207	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		30035207	141079860	21	2209											
SP8	221833	ucsc.edu	37	chr7	20824901	20824901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgtgcaccttggagatgaAcaccggctggtgggagccgt	7	8	17	9	2	0	2	0	1	0	1	0	4	0	3	3	5	3	2	3	5	1	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr7:20824901A>G	ENST00000361443.4	-	3	718	c.481T>C	c.(481-483)Ttc>Ctc	p.F161L	SP8_ENST00000418710.2_Missense_Mutation_p.F179L	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	161					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						TTGGAGATGAACACCGGCTGG	0.726																																						.											0													5	6	6					7																	20824901		1660	3287	4947	SO:0001583	missense	221833				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.481T>C	7.37:g.20824901A>G	ENSP00000354482:p.Phe161Leu		Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757824	0.31137	.	.	ENSG00000164651	ENST00000297210;ENST00000418710;ENST00000361443	T;T	0.08896	3.04;3.07	3.26	3.26	0.37387	.	0.000000	0.85682	U	0.000000	T	0.05593	0.0147	L	0.33093	0.98	0.48185	D	0.999604	B;B	0.31837	0.342;0.342	B;B	0.24848	0.056;0.056	T	0.30765	-0.9967	10	0.09338	T	0.73	.	11.4081	0.49911	1.0:0.0:0.0:0.0	.	161;161	Q7Z615;Q8IXZ3	.;SP8_HUMAN	L	137;179;161	ENSP00000408792:F179L;ENSP00000354482:F161L	ENSP00000297210:F137L	F	-	1	0	SP8	20791426	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.629000	0.61290	1.355000	0.45865	0.260000	0.18958	TTC		0.726	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			G	20824901	A	G	20824901	3	3	30	1	0	0	0	0	1	0	0	0	14970	43	2	2	995	2	SP8	7	20824901	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10		20824901	138313762	22	2210											
MYL7	58498	broad.mit.edu;hgsc.bcm.edu	37	chr7	44179423	44179423	+	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	tgccgctggggtcaaacatgCggaaggcactcaggatggct	9	7	15	10	2	2	0	2	0	0	0	2	2	2	2	1	6	3	3	1	6	2	0			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr7:44179423C>T	ENST00000223364.3	-	5	361	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Missense_Mutation_p.R85H	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	112	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GTCAAACATGCGGAAGGCACT	0.627																																						.											0													66	58	61					7																	44179423		2203	4300	6503	SO:0001583	missense	58498			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"Myosins / Light chain", "EF-hand domain containing"	21719	protein-coding gene	gene with protein product		613993	"myosin, light polypeptide 7, regulatory"			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.335G>A	7.37:g.44179423C>T	ENSP00000223364:p.Arg112His		B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	CCDS5478.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639708	0.87760	.	.	ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951	T;T;T;T;T	0.73047	2.84;-0.71;-0.71;-0.71;-0.49	5.05	5.05	0.67936	EF-hand-like domain (1);	0.063686	0.64402	D	0.000008	T	0.67011	0.2848	M	0.67700	2.07	0.41070	D	0.985441	B	0.20887	0.049	B	0.25759	0.063	T	0.68383	-0.5423	10	0.72032	D	0.01	.	7.8513	0.29457	0.0:0.8213:0.0:0.1787	.	112	Q01449	MLRA_HUMAN	H	39;112;85;134;141	ENSP00000416010:R39H;ENSP00000223364:R112H;ENSP00000403360:R85H;ENSP00000389202:R134H;ENSP00000403988:R141H	ENSP00000223364:R112H	R	-	2	0	MYL7	44145948	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.258000	0.58822	2.348000	0.79779	0.551000	0.68910	CGC		0.627	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		T	44179423	C	T	44179423	3	4	30	1	0	0	0	0	1	0	0	0	10053	768	27	1	204	1	MYL7	7	44179423	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	23354522	44179423	114959240	23	2211											
CACNA2D1	781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	81641523	81641523	+	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	ttgcttagctttgtctcctgCtaaaaccattggtcttccca	7	16	6	12	0	2	0	0	0	2	0	4	0	3	0	3	1	4	3	3	1	3	6			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr7:81641523C>T	ENST00000356253.5	-	15	1564	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A437T|MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	437					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)	TTGTCTCCTGCTAAAACCATT	0.363																																						.											0													175	157	163					7																	81641523		2203	4300	6503	SO:0001583	missense	781			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.1309G>A	7.37:g.81641523C>T	ENSP00000348589:p.Ala437Thr		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	31	5.069378	0.93950	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.08008	3.15;3.14	5.41	5.41	0.78517	.	0.046028	0.85682	D	0.000000	T	0.23926	0.0579	M	0.70595	2.14	0.80722	D	1	P	0.47191	0.891	P	0.54759	0.76	T	0.00097	-1.2072	10	0.38643	T	0.18	-21.2337	18.325	0.90251	0.0:1.0:0.0:0.0	.	437	P54289-2	.	T	437	ENSP00000349320:A437T;ENSP00000348589:A437T	ENSP00000284088:A437T	A	-	1	0	CACNA2D1	81479459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.137000	0.77295	2.694000	0.91930	0.585000	0.79938	GCA		0.363	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81641523	C	T	81641523	3	4	30	1	0	0	0	0	1	0	0	0	2548	797	28	4	2066	4	CACNA2D1	7	81641523	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	37462100	81641523	77497140	24	2212											
TOX	9760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	60031454	60031454	+	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	agagcgttcaccttgttgcaAtagtaggggtccaggcaggg	9	9	15	8	1	1	1	1	0	0	1	2	1	2	1	2	4	2	5	2	4	3	5			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr8:60031454A>T	ENST00000361421.1	-	1	313	c.93T>A	c.(91-93)taT>taA	p.Y31*	RP11-25K19.1_ENST00000518993.1_RNA|RP11-25K19.1_ENST00000517898.1_RNA|RP11-25K19.1_ENST00000523683.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	31						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)				CCTTGTTGCAATAGTAGGGGT	0.632																																					Pancreas(161;610 1969 17913 21374 22725)	.											0													80	78	78					8																	60031454		2203	4300	6503	SO:0001587	stop_gained	9760				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.93T>A	8.37:g.60031454A>T	ENSP00000354842:p.Tyr31*		Q96AV5	Nonsense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	A	37	6.025795	0.97216	.	.	ENSG00000198846	ENST00000361421	.	.	.	4.76	4.76	0.60689	.	0.328792	0.22187	N	0.063421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.498	0.27500	0.8348:0.0:0.1652:0.0	.	.	.	.	X	31	.	.	Y	-	3	2	TOX	60194008	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	1.807000	0.38902	1.903000	0.55091	0.459000	0.35465	TAT		0.632	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		T	60031454	A	T	60031454	4	4	30	1	0	0	0	0	0	1	0	0	16374	108	4	5	1523	5	TOX	8	60031454	Nonsense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10		60031454	86332568	25	2213											
EYA1	2138	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr8	72211306	72211306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggatctgtaactgcttGgctggtgatgccagatggcg	6	12	16	7	1	1	2	0	1	1	1	1	3	1	3	1	4	3	3	1	4	1	2			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr8:72211306G>T	ENST00000340726.3	-	9	1441	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	EYA1_ENST00000419131.1_Missense_Mutation_p.Q263K|EYA1_ENST00000303824.7_Missense_Mutation_p.Q262K|EYA1_ENST00000388742.4_Missense_Mutation_p.Q268K|EYA1_ENST00000388740.3_Missense_Mutation_p.Q235K|EYA1_ENST00000388743.2_Missense_Mutation_p.Q267K|EYA1_ENST00000388741.2_Missense_Mutation_p.Q234K	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	268					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)			GTAACTGCTTGGCTGGTGATG	0.433																																						.											0													225	194	204					8																	72211306		2203	4300	6503	SO:0001583	missense	2138			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.802C>A	8.37:g.72211306G>T	ENSP00000342626:p.Gln268Lys		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907619	0.72868	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	L	0.61218	1.895	0.80722	D	1	P;B;P;P;B	0.50369	0.934;0.321;0.516;0.934;0.0	D;B;B;D;B	0.66351	0.943;0.205;0.281;0.943;0.004	D	0.84403	0.0561	10	0.13853	T	0.58	-4.204	19.38	0.94529	0.0:0.0:1.0:0.0	.	262;195;235;268;263	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	K	268;268;236;235;262;234;267;263	ENSP00000373394:Q268K;ENSP00000342626:Q268K;ENSP00000373392:Q235K;ENSP00000303221:Q262K;ENSP00000373393:Q234K;ENSP00000373395:Q267K;ENSP00000410176:Q263K	ENSP00000303221:Q262K	Q	-	1	0	EYA1	72373860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.654000	0.90174	0.585000	0.79938	CAA		0.433	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		T	72211306	G	T	72211306	3	4	30	1	0	0	0	0	1	0	0	0	5328	1357	47	5	1016	5	EYA1	8	72211306	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	12179852	72211306	74152716	26	2214											
GEM	2669	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	95264412	95264412	+	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	gacaatcaggtatgcgtcccCgacctgcatgcagtggtcat	9	9	11	12	2	2	0	2	0	0	0	3	2	3	0	3	2	3	3	3	2	2	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr8:95264412C>T	ENST00000297596.2	-	4	712	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	GEM_ENST00000396194.2_Missense_Mutation_p.G150R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	150					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TATGCGTCCCCGACCTGCATG	0.517																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	.											0													82	73	76					8																	95264412		2203	4300	6503	SO:0001583	missense	2669				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"kinase-inducible Ras-like protein"	600164	"GTP-binding protein overexpressed in skeletal muscle"			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.448G>A	8.37:g.95264412C>T	ENSP00000297596:p.Gly150Arg		B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510098	0.96386	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	T;T	0.79653	-1.29;-1.29	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.101171	0.64402	D	0.000002	D	0.92335	0.7568	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92503	0.6010	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	150	P55040	GEM_HUMAN	R	150	ENSP00000379497:G150R;ENSP00000297596:G150R	ENSP00000297596:G150R	G	-	1	0	GEM	95333588	1.000000	0.71417	0.977000	0.42913	0.958000	0.62258	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		0.517	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		T	95264412	C	T	95264412	3	4	30	1	0	0	0	0	1	0	0	0	6329	652	23	1	450	1	GEM	8	95264412	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	23053106	95264412	51099610	27	2215											
PRSS3	5646	mdanderson.org	37	chr9	33797881	33797881	+	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	aaagtcctggaggggaatgaGcagttcatcaatgcggccaa	13	7	13	8	1	2	1	2	1	0	0	3	3	3	3	2	4	2	2	2	4	4	1	rs372122039		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:33797881G>A	ENST00000361005.5	+	3	426	c.426G>A	c.(424-426)gaG>gaA	p.E142E	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.E78E|PRSS3_ENST00000342836.4_Silent_p.E99E|PRSS3_ENST00000379405.3_Silent_p.E85E	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	142	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)			AGGGGAATGAGCAGTTCATCA	0.547																																						.											0													202	166	178					9																	33797881		2203	4300	6503	SO:0001819	synonymous_variant	5646				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.426G>A	9.37:g.33797881G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.547	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		A	33797881	G	A	33797881	2	1	30	1	0	0	0	0	0	0	0	1	12622	962	34	4		4	PRSS3	9	33797881	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10		33797881	107415550	28	2216											
TLE1	7088	broad.mit.edu	37	chr9	84199172	84199172	+	Missense_Mutation	SNP	T	T	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	cgagccagtgactatgtactTatcatccacagagatgtcac	12	10	8	11	1	2	2	2	1	0	1	3	4	3	2	2	0	2	1	2	0	3	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:84199172T>C	ENST00000376499.3	-	20	3318	c.2254A>G	c.(2254-2256)Aag>Gag	p.K752E		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	752					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACTATGTACTTATCATCCACA	0.423																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	.											0													140	128	132					9																	84199172		2203	4300	6503	SO:0001583	missense	7088				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2254A>G	9.37:g.84199172T>C	ENSP00000365682:p.Lys752Glu		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	t	29.1	4.976325	0.92982	.	.	ENSG00000196781	ENST00000376499	T	0.11712	2.75	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100652	0.64402	D	0.000002	T	0.29256	0.0728	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.70716	0.97;0.901	T	0.01165	-1.1431	10	0.87932	D	0	-20.0631	15.415	0.74960	0.0:0.0:0.0:1.0	.	737;752	B4DEF9;Q04724	.;TLE1_HUMAN	E	752	ENSP00000365682:K752E	ENSP00000365682:K752E	K	-	1	0	TLE1	83388992	1.000000	0.71417	0.983000	0.44433	0.999000	0.98932	7.800000	0.85949	2.281000	0.76405	0.533000	0.62120	AAG		0.423	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		C	84199172	T	C	84199172	3	2	30	1	0	0	0	0	1	0	0	0	15935	1763	61	4	62	4	TLE1	9	84199172	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10	50401291	84199172	57014259	29	2217											
OR1L1	26737	broad.mit.edu	37	chr9	125424320	125424320	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttcttagcctttggaaAcacagacagttacctgctag	10	14	7	10	0	1	1	0	0	1	1	1	2	1	2	2	1	4	2	2	1	4	6			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:125424320A>G	ENST00000373686.1	+	1	476	c.476A>G	c.(475-477)aAc>aGc	p.N159S	OR1L1_ENST00000309623.1_Missense_Mutation_p.N109S			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCTTTGGAAACACAGACAGT	0.448																																						.											0													223	212	216					9																	125424320		2203	4300	6503	SO:0001583	missense	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.476A>G	9.37:g.125424320A>G	ENSP00000362790:p.Asn159Ser		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37		.	.	.	.	.	.	.	.	.	.	A	16.37	3.105085	0.56291	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.02863	4.13;4.13	3.11	0.772	0.18510	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01940	0.0061	N	0.02225	-0.63	0.09310	N	1	D	0.53462	0.96	P	0.54174	0.744	T	0.47100	-0.9143	9	0.23891	T	0.37	.	3.1547	0.06500	0.4118:0.2383:0.3498:0.0	.	159	Q8NH94	OR1L1_HUMAN	S	159;109	ENSP00000362790:N159S;ENSP00000310773:N109S	ENSP00000310773:N109S	N	+	2	0	OR1L1	124464141	0.000000	0.05858	0.001000	0.08648	0.806000	0.45545	-1.143000	0.03200	0.394000	0.25230	0.260000	0.18958	AAC		0.448	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				G	125424320	A	G	125424320	3	3	30	1	0	0	0	0	1	0	0	0	10963	43	2	2	328	2	OR1L1	9	125424320	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	41225148	125424320	15789111	30	2218											
ABL1	25	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	133748274	133748274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccgggagcccccgttctAtatcatcactgagttcatga	9	10	8	14	2	4	2	3	2	1	0	4	3	4	3	3	1	1	2	3	1	2	4			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:133748274A>G	ENST00000318560.5	+	6	1316	c.935A>G	c.(934-936)tAt>tGt	p.Y312C		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			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)	CCCCCGTTCTATATCATCACT	0.552			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													82	82	82					9																	133748274		2203	4300	6503	SO:0001583	missense	25			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.935A>G	9.37:g.133748274A>G	ENSP00000323315:p.Tyr312Cys		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.841408	0.91197	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.65178	-0.14;-0.14	6.04	6.04	0.98038	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	0.66519	0.2797	N	0.15975	0.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72659	-0.4226	10	0.87932	D	0	.	15.7697	0.78157	1.0:0.0:0.0:0.0	.	312;349	P00519;Q59FK4	ABL1_HUMAN;.	C	127;331;312	ENSP00000361423:Y331C;ENSP00000323315:Y312C	ENSP00000323315:Y312C	Y	+	2	0	ABL1	132738095	1.000000	0.71417	0.986000	0.45419	0.873000	0.50193	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TAT		0.552	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		G	133748274	A	G	133748274	3	3	30	1	0	0	0	0	1	0	0	0	92	449	16	4	1097	4	ABL1	9	133748274	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	8323954	133748274	7465157	31	2219											
LCN10	414332	broad.mit.edu	37	chr9	139636409	139636409	+	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	cgcccccagcttcctcttgtCcctggccggcaagaatccct	5	9	8	19	2	1	1	0	0	1	1	4	1	4	1	6	2	1	2	6	2	2	2	rs373041848		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr9:139636409C>T	ENST00000474369.1	-	2	180	c.181G>A	c.(181-183)Gac>Aac	p.D61N	LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000435202.1_3'UTR|LCN6_ENST00000480584.1_5'UTR|LCN10_ENST00000527229.1_Missense_Mutation_p.D61N|LCN10_ENST00000497771.1_Missense_Mutation_p.D61N			Q6JVE6	LCN10_HUMAN	lipocalin 10	61					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)		TTCCTCTTGTCCCTGGCCGGC	0.647																																						.											0									ASN/ASP	0,4402		0,0,2201	52	44	47		181	1	0.1	9		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	LCN10	NM_001001712.2	23	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	61/201	139636409	1,13001	2201	4300	6501	SO:0001583	missense	414332			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.181G>A	9.37:g.139636409C>T	ENSP00000420564:p.Asp61Asn		A2RUU3|B0QZ79	Missense_Mutation	SNP	ENST00000474369.1	37	CCDS35182.2	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288725	0.59976	0.0	1.16E-4	ENSG00000187922	ENST00000527229;ENST00000497771;ENST00000474369	T;T;T	0.12039	2.72;2.72;2.72	4.07	1.03	0.20045	Calycin-like (1);Calycin (1);	0.982436	0.08310	N	0.965576	T	0.12561	0.0305	.	.	.	0.09310	N	1	P;P;P	0.46784	0.884;0.884;0.884	B;B;B	0.43103	0.408;0.408;0.408	T	0.25606	-1.0127	9	0.48119	T	0.1	-5.8772	5.5735	0.17210	0.0:0.4825:0.4041:0.1134	.	61;61;61	E9PK15;Q6JVE6;Q6JVE6-2	.;LCN10_HUMAN;.	N	61	ENSP00000431726:D61N;ENSP00000418491:D61N;ENSP00000420564:D61N	ENSP00000435948:D61N	D	-	1	0	LCN10	138756230	0.094000	0.21725	0.088000	0.20740	0.757000	0.42996	0.802000	0.27069	0.413000	0.25759	0.552000	0.68991	GAC		0.647	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318062.2	NM_001001712		T	139636409	C	T	139636409	3	4	30	1	0	0	0	0	1	0	0	0	8681	855	30	3	441	3	LCN10	9	139636409	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	5888135	139636409	1577022	32	2220											
TUBB8	347688	broad.mit.edu	37	chr10	93637	93637	+	Missense_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	acgtggtgaccccactcatgGtagcagacaccaggtggttc	9	8	12	12	1	1	2	1	1	0	1	2	2	1	2	3	4	1	3	3	4	1	2			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr10:93637G>A	ENST00000309812.4	-	4	757	c.695C>T	c.(694-696)aCc>aTc	p.T232I	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.T160I	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	232					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)	p.T232I(1)		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)		CCCACTCATGGTAGCAGACAC	0.557																																					Pancreas(192;2041 3010 9013 18103)	.											1	Substitution - Missense(1)	skin(1)											19	20	20					10																	93637		1983	3806	5789	SO:0001583	missense	347688			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.695C>T	10.37:g.93637G>A	ENSP00000311042:p.Thr232Ile		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.363066	0.24684	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.67698	-0.28	.	.	.	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.64402	U	0.000006	T	0.63177	0.2489	N	0.17764	0.52	0.36197	D	0.85048	D;D	0.65815	0.995;0.961	D;P	0.70487	0.969;0.891	T	0.66236	-0.5974	9	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	195;232	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	I	160;198;195;232	ENSP00000403895:T160I	ENSP00000272035:T198I	T	-	2	0	RP11-631M21.2	83637	1.000000	0.71417	0.111000	0.21465	0.113000	0.19764	6.543000	0.73874	0.119000	0.18210	0.121000	0.15741	ACC		0.557	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	93637	G	A	93637	3	1	30	1	0	0	0	0	1	0	0	0	16758	1261	44	3	643	3	TUBB8	10	93637	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		93637	135441110	33	2221											
CDH23	64072	ucsc.edu	37	chr10	73572329	73572329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccggagaacctgagtgAgatcgccgacctgtggaaca	11	6	12	12	3	0	3	0	2	0	2	1	7	0	4	5	2	3	0	5	2	3	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr10:73572329A>G	ENST00000224721.6	+	66	9493	c.9488A>G	c.(9487-9489)gAg>gGg	p.E3163G	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E918G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3158					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						AACCTGAGTGAGATCGCCGAC	0.637																																						.											0													57	63	61					10																	73572329		2012	4177	6189	SO:0001583	missense	64072			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.9488A>G	10.37:g.73572329A>G	ENSP00000224721:p.Glu3163Gly		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	A	20.7	4.034027	0.75504	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.80994	-1.44	5.44	5.44	0.79542	.	0.061549	0.64402	D	0.000004	D	0.85089	0.5617	L	0.36672	1.1	0.58432	D	0.999997	D;D;P;P	0.69078	0.992;0.997;0.651;0.651	P;D;B;B	0.77557	0.813;0.99;0.115;0.115	D	0.86393	0.1737	10	0.62326	D	0.03	.	15.6681	0.77247	1.0:0.0:0.0:0.0	.	55;55;3158;3158	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	G	3163;3158;3161;918	ENSP00000381768:E918G	ENSP00000224721:E3163G	E	+	2	0	CDH23	73242335	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	9.100000	0.94213	2.288000	0.76882	0.533000	0.62120	GAG		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		G	73572329	A	G	73572329	3	3	30	1	0	0	0	0	1	0	0	0	3108	304	11	2	10155	2	CDH23	10	73572329	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	73478692	73572329	61962418	34	2222											
AMPD3	272	ucsc.edu	37	chr11	10506508	10506508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcaccaggagccgcAcagcctaccctaccccgacc	9	3	10	19	2	0	0	0	0	0	0	0	3	0	2	7	2	5	3	7	2	2	2			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr11:10506508A>G	ENST00000396554.3	+	5	1099	c.758A>G	c.(757-759)cAc>cGc	p.H253R	AMPD3_ENST00000444303.2_Missense_Mutation_p.H85R	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	244					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGGAGCCGCACAGCCTACCC	0.582																																						.											0													88	77	81					11																	10506508		2201	4294	6495	SO:0001583	missense	272			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.758A>G	11.37:g.10506508A>G	ENSP00000379802:p.His253Arg		A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053576	0.36277	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.97	4.85	0.62838	.	0.089199	0.85682	D	0.000000	T	0.74935	0.3782	N	0.04705	-0.18	0.35951	D	0.833941	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.69859	-0.5031	10	0.20519	T	0.43	-32.6972	3.4323	0.07433	0.6868:0.0:0.3132:0.0	.	251;244;253	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	R	85;253;244;244;251;244	ENSP00000396000:H85R;ENSP00000379802:H253R;ENSP00000433284:H244R;ENSP00000379801:H244R;ENSP00000436987:H251R;ENSP00000431648:H244R	ENSP00000379801:H244R	H	+	2	0	AMPD3	10463084	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	1.627000	0.37050	2.288000	0.76882	0.533000	0.62120	CAC		0.582	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		G	10506508	A	G	10506508	3	3	30	1	0	0	0	0	1	0	0	0	587	159	6	2	796	2	AMPD3	11	10506508	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10		10506508	124500008	35	2223											
SYT7	9066	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	61291299	61291299	+	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	ctgctggagaagccccgtacCtgatgtgcccccgatgtcca	7	8	11	15	2	0	2	0	1	0	1	1	4	1	2	6	1	4	2	6	1	2	1	rs567302490		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr11:61291299C>A	ENST00000263846.4	-	7	1234	c.907G>T	c.(907-909)Gac>Tac	p.D303Y	SYT7_ENST00000539008.1_Splice_Site_p.D586Y|SYT7_ENST00000540677.1_Splice_Site_p.D378Y|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000535826.1_Splice_Site_p.D422Y|SYT7_ENST00000542670.1_Splice_Site_p.D511Y|SYT7_ENST00000542836.1_Splice_Site_p.D347Y	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	303	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCCCCGTACCTGATGTGCCC	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		17118	0		0	False		,,,				2504	0					.											0													264	253	257					11																	61291299		2202	4299	6501	SO:0001630	splice_region_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.907+1G>T	11.37:g.61291299C>A			F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355550	0.82243	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.48	4.48	0.54585	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	0.93729	0.7996	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96390	0.9288	9	.	.	.	.	17.5306	0.87813	0.0:1.0:0.0:0.0	.	378;303	F5GZU9;O43581	.;SYT7_HUMAN	Y	303;378;586;347;511;422	ENSP00000263846:D303Y;ENSP00000444201:D378Y;ENSP00000439694:D586Y;ENSP00000444568:D347Y;ENSP00000444019:D511Y;ENSP00000437720:D422Y	.	D	-	1	0	SYT7	61047875	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.760000	0.85248	2.192000	0.70111	0.462000	0.41574	GAC		0.592	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200	Missense_Mutation	A	61291299	C	A	61291299	5	1	30	1	0	0	0	0	0	0	1	0	15476	695	24	5	316	5	SYT7	11	61291299	Splice_Site	SNP	C	TCGA-KM-8443-01A-11D-2310-10	50784791	61291299	73715217	36	2224											
PTS	5805	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	112101359	112101359	+	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	tattctttagattgaccctgCtacgggaatggttatgaatc	10	15	9	7	1	1	3	0	2	1	1	2	4	1	4	1	2	2	2	1	2	6	7			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr11:112101359C>G	ENST00000280362.3	+	4	276	c.197C>G	c.(196-198)gCt>gGt	p.A66G	PTS_ENST00000524931.1_5'UTR|PTS_ENST00000525803.1_Intron	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	66					cellular amino acid metabolic process (GO:0006520)|central nervous system development (GO:0007417)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	6-pyruvoyltetrahydropterin synthase activity (GO:0003874)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		ATTGACCCTGCTACGGGAATG	0.373																																						.											0													178	177	177					11																	112101359		2201	4297	6498	SO:0001583	missense	5805			U63382	CCDS8359.1	11q22.3	2014-04-01				ENSG00000150787	4.2.3.12		9689	protein-coding gene	gene with protein product		612719				8188266	Standard	NM_000317		Approved	PTPS	uc001pnj.4	Q03393		ENST00000280362.3:c.197C>G	11.37:g.112101359C>G	ENSP00000280362:p.Ala66Gly		B0YJ87|Q8WVG8	Missense_Mutation	SNP	ENST00000280362.3	37	CCDS8359.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378147	0.24944	.	.	ENSG00000150787	ENST00000280362	D	0.99388	-5.81	5.39	-0.156	0.13391	.	0.319540	0.33792	N	0.004555	D	0.96071	0.8720	L	0.39397	1.21	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	D	0.87920	0.2703	10	0.23302	T	0.38	-16.4062	1.042	0.01561	0.1483:0.1913:0.1537:0.5067	.	66	Q03393	PTPS_HUMAN	G	66	ENSP00000280362:A66G	ENSP00000280362:A66G	A	+	2	0	PTS	111606569	0.793000	0.28825	0.988000	0.46212	0.919000	0.55068	0.412000	0.21131	-0.174000	0.10743	-0.225000	0.12378	GCT		0.373	PTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393541.1	NM_000317		G	112101359	C	G	112101359	3	3	30	1	0	0	0	0	1	0	0	0	12818	797	28	5	211	5	PTS	11	112101359	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	50810060	112101359	22905157	37	2225											
KRT76	51350	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr12	53169235	53169235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctccaggttccccctcTcccctagaagtgaatctagc	7	10	6	18	0	2	2	0	1	2	1	6	2	5	2	6	1	1	1	6	1	4	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:53169235T>C	ENST00000332411.2	-	2	805	c.752A>G	c.(751-753)gAg>gGg	p.E251G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	251	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTTCCCCCTCTCCCCTAGAAG	0.552																																						.											0													140	142	141					12																	53169235		2203	4300	6503	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.752A>G	12.37:g.53169235T>C	ENSP00000330101:p.Glu251Gly		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767701	0.49574	.	.	ENSG00000185069	ENST00000332411	D	0.90620	-2.7	4.56	3.38	0.38709	Filament (1);	0.144593	0.31612	N	0.007350	D	0.95236	0.8455	M	0.90082	3.085	0.42102	D	0.991342	D	0.67145	0.996	D	0.67725	0.953	D	0.95005	0.8146	10	0.59425	D	0.04	.	11.511	0.50494	0.0:0.0:0.1563:0.8437	.	251	Q01546	K22O_HUMAN	G	251	ENSP00000330101:E251G	ENSP00000330101:E251G	E	-	2	0	KRT76	51455502	0.925000	0.31364	0.067000	0.19924	0.330000	0.28571	5.173000	0.65010	0.825000	0.34637	0.379000	0.24179	GAG		0.552	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		C	53169235	T	C	53169235	3	2	30	1	0	0	0	0	1	0	0	0	8489	1551	54	2	1196	2	KRT76	12	53169235	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		53169235	80682660	38	2226											
ITGA5	3678	broad.mit.edu	37	chr12	54812840	54812840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccgagagtactgctgggGcctccgcgtctaagttgaag	7	8	14	12	3	1	2	0	1	1	1	2	3	2	2	4	2	2	3	4	2	3	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:54812840G>T	ENST00000293379.4	-	1	404	c.143C>A	c.(142-144)gCc>gAc	p.A48D	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.3_ENST00000552053.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	48					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						TACTGCTGGGGCCTCCGCGTC	0.706																																						.											0													13	19	17					12																	54812840		2110	4214	6324	SO:0001583	missense	3678				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.143C>A	12.37:g.54812840G>T	ENSP00000293379:p.Ala48Asp		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699146	0.30142	.	.	ENSG00000161638	ENST00000293379	T	0.69685	-0.42	4.54	3.64	0.41730	.	0.339088	0.30959	N	0.008525	T	0.50411	0.1614	L	0.28400	0.85	0.38871	D	0.956695	B	0.32781	0.384	B	0.28305	0.088	T	0.53078	-0.8489	10	0.39692	T	0.17	.	10.6553	0.45671	0.0:0.1943:0.8057:0.0	.	48	P08648	ITA5_HUMAN	D	48	ENSP00000293379:A48D	ENSP00000293379:A48D	A	-	2	0	ITGA5	53099107	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.524000	0.45589	1.254000	0.44035	0.462000	0.41574	GCC		0.706	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			T	54812840	G	T	54812840	3	4	30	1	0	0	0	0	1	0	0	0	7879	1203	42	5	3126	5	ITGA5	12	54812840	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	1643605	54812840	79039055	39	2227											
TBC1D15	64786	broad.mit.edu	37	chr12	72314554	72314554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatttccatcttcttcTctgttgtgctattctggaat	8	19	5	9	0	4	0	0	0	4	0	6	1	5	1	1	1	2	2	1	1	4	7			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:72314554T>C	ENST00000550746.1	+	16	1758	c.1694T>C	c.(1693-1695)cTc>cCc	p.L565P	TBC1D15_ENST00000393309.3_Missense_Mutation_p.L319P|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L548P|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L556P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	565					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						CATCTTCTTCTCTGTTGTGCT	0.323																																						.											0													219	217	217					12																	72314554		2203	4300	6503	SO:0001583	missense	64786			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.1694T>C	12.37:g.72314554T>C	ENSP00000448182:p.Leu565Pro		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254728	0.80135	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.49	5.49	0.81192	Rab-GAP/TBC domain (3);	0.214306	0.40385	N	0.001113	T	0.44664	0.1304	L	0.57536	1.79	0.80722	D	1	D;P;P	0.54397	0.966;0.913;0.912	P;P;P	0.59424	0.857;0.503;0.635	T	0.41016	-0.9532	10	0.87932	D	0	-0.4369	15.6355	0.76949	0.0:0.0:0.0:1.0	.	556;548;565	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	P	565;556;548;319	ENSP00000448182:L565P;ENSP00000318262:L556P;ENSP00000420678:L548P;ENSP00000376986:L319P	ENSP00000318262:L556P	L	+	2	0	TBC1D15	70600821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.948000	0.87774	2.105000	0.64084	0.472000	0.43445	CTC		0.323	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		C	72314554	T	C	72314554	3	2	30	1	0	0	0	0	1	0	0	0	15601	1551	54	2	1880	2	TBC1D15	12	72314554	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10	17501714	72314554	61537341	40	2228											
DDX55	57696	broad.mit.edu;mdanderson.org	37	chr12	124092052	124092052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcctgtcgcatttcacgaAgcacttccccgagttcaggt	7	11	10	13	3	2	0	2	0	0	0	5	2	4	0	3	2	1	3	3	2	1	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:124092052A>G	ENST00000238146.4	+	4	370	c.320A>G	c.(319-321)aAg>aGg	p.K107R	DDX55_ENST00000538744.1_Missense_Mutation_p.K107R	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	107	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CATTTCACGAAGCACTTCCCC	0.493																																						.											0													260	207	225					12																	124092052		2203	4300	6503	SO:0001583	missense	57696			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.320A>G	12.37:g.124092052A>G	ENSP00000238146:p.Lys107Arg		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756016	0.31137	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;T	0.18338	2.22;2.22	5.71	1.99	0.26369	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.152410	0.64402	N	0.000018	T	0.12603	0.0306	L	0.31845	0.965	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.09487	-1.0672	10	0.41790	T	0.15	.	9.837	0.40975	0.8026:0.0:0.1974:0.0	.	107	Q8NHQ9	DDX55_HUMAN	R	107	ENSP00000238146:K107R;ENSP00000443114:K107R	ENSP00000238146:K107R	K	+	2	0	DDX55	122658005	1.000000	0.71417	0.977000	0.42913	0.816000	0.46133	2.882000	0.48546	0.090000	0.17273	-0.400000	0.06385	AAG		0.493	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			G	124092052	A	G	124092052	3	3	30	1	0	0	0	0	1	0	0	0	4373	72	3	2	334	2	DDX55	12	124092052	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	51777498	124092052	9759843	41	2229											
CHFR	55743	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr12	133435693	133435693	+	Missense_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	ggtcctggcagatgatgcatGtcagcgtctcctccatcttg	6	12	11	12	1	3	2	1	1	2	1	6	2	5	2	3	2	2	2	3	2	0	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr12:133435693G>A	ENST00000432561.2	-	8	981	c.908C>T	c.(907-909)aCa>aTa	p.T303I	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.T211I|CHFR_ENST00000266880.7_Missense_Mutation_p.T303I|CHFR_ENST00000450056.2_Missense_Mutation_p.T291I|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000315585.7_Missense_Mutation_p.T262I			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	303					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)		GATGATGCATGTCAGCGTCTC	0.602																																						.											0													243	138	174					12																	133435693		2203	4300	6503	SO:0001583	missense	55743			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.908C>T	12.37:g.133435693G>A	ENSP00000392395:p.Thr303Ile		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570504	0.65765	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.49	3.64	0.41730	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	N	0.17674	0.51	0.58432	D	0.999997	D;P;P;P;P	0.76494	0.999;0.853;0.879;0.676;0.916	D;P;P;P;P	0.77004	0.989;0.805;0.877;0.733;0.503	T	0.22871	-1.0204	10	0.30078	T	0.28	-15.3446	11.2006	0.48739	0.0693:0.1281:0.8027:0.0	.	211;303;303;291;262	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	I	262;211;291;303;103;303	ENSP00000320557:T262I;ENSP00000416431:T211I;ENSP00000398735:T291I;ENSP00000266880:T303I;ENSP00000392395:T303I	ENSP00000266880:T303I	T	-	2	0	CHFR	131945766	1.000000	0.71417	0.310000	0.25168	0.974000	0.67602	9.312000	0.96287	0.660000	0.30964	0.655000	0.94253	ACA		0.602	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			A	133435693	G	A	133435693	3	1	30	1	0	0	0	0	1	0	0	0	3337	1377	48	4	1130	4	CHFR	12	133435693	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	9343641	133435693	416202	42	2230											
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	23915268	23915268	+	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	cttgaataattcttttctctTtctcactgctatcggttaaa	9	19	4	9	1	3	1	1	1	3	0	6	1	3	1	0	1	1	2	0	1	5	8			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr13:23915268T>G	ENST00000382292.3	-	9	3020	c.2747A>C	c.(2746-2748)aAa>aCa	p.K916T	SACS_ENST00000402364.1_Missense_Mutation_p.K166T|SACS_ENST00000382298.3_Missense_Mutation_p.K916T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	916					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)		TCTTTTCTCTTTCTCACTGCT	0.363																																						.											0													132	134	133					13																	23915268		2203	4300	6503	SO:0001583	missense	26278			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.2747A>C	13.37:g.23915268T>G	ENSP00000371729:p.Lys916Thr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796919	0.31777	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.15;-2.3;-2.15	6.05	4.87	0.63330	.	0.154450	0.56097	D	0.000028	T	0.78304	0.4262	L	0.32530	0.975	0.30980	N	0.722627	P	0.34815	0.47	B	0.28916	0.096	T	0.74475	-0.3653	10	0.23891	T	0.37	.	11.899	0.52671	0.0:0.0675:0.0:0.9325	.	916	Q9NZJ4	SACS_HUMAN	T	916;166;916	ENSP00000371729:K916T;ENSP00000385844:K166T;ENSP00000371735:K916T	ENSP00000371729:K916T	K	-	2	0	SACS	22813268	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	2.117000	0.41939	1.118000	0.41863	0.528000	0.53228	AAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23915268	T	G	23915268	3	3	30	1	0	0	0	0	1	0	0	0	13804	1841	64	5	10996	5	SACS	13	23915268	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		23915268	91254610	43	2231											
HOMEZ	57594	broad.mit.edu	37	chr14	23745955	23745955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattccaataccaacttgcTctggagctggcactggagga	10	10	10	11	0	1	0	0	0	1	0	2	3	2	3	2	4	4	3	2	4	4	4			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr14:23745955T>C	ENST00000357460.5	-	2	646	c.482A>G	c.(481-483)gAg>gGg	p.E161G	HOMEZ_ENST00000431326.2_Missense_Mutation_p.E163G|HOMEZ_ENST00000561013.1_Missense_Mutation_p.E163G	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	161	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCAACTTGCTCTGGAGCTGG	0.547																																						.											0													124	125	125					14																	23745955		1926	4139	6065	SO:0001583	missense	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.482A>G	14.37:g.23745955T>C	ENSP00000350049:p.Glu161Gly		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.743102	0.30865	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.27557	1.66;1.66	5.62	5.62	0.85841	.	0.212459	0.41396	D	0.000884	T	0.21921	0.0528	L	0.29908	0.895	0.09310	N	1	P;P	0.40731	0.728;0.608	B;B	0.39339	0.297;0.156	T	0.15636	-1.0430	10	0.24483	T	0.36	-24.2871	9.9553	0.41663	0.0:0.0:0.1703:0.8297	.	163;161	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	G	161;163	ENSP00000350049:E161G;ENSP00000406579:E163G	ENSP00000350049:E161G	E	-	2	0	HOMEZ	22815795	0.232000	0.23762	0.990000	0.47175	0.964000	0.63967	1.454000	0.35178	2.159000	0.67721	0.533000	0.62120	GAG		0.547	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		C	23745955	T	C	23745955	3	2	30	1	0	0	0	0	1	0	0	0	7281	1551	54	2	1174	2	HOMEZ	14	23745955	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10		23745955	83603585	44	2232											
DTWD1	56986	broad.mit.edu	37	chr15	49935536	49935536	+	Frame_Shift_Del	DEL	C	C	-																															tttttttgacagggttgttaCaagttgagttgaaaacaaga																								rs368454338		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr15:49935536delC	ENST00000251250.6	+	6	883	c.676delC	c.(676-678)caafs	p.Q226fs	DTWD1_ENST00000558653.1_Frame_Shift_Del_p.Q226fs|DTWD1_ENST00000403028.3_Frame_Shift_Del_p.Q226fs|DTWD1_ENST00000415425.1_Frame_Shift_Del_p.Q139fs	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	226										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AGGGTTGTTACAAGTTGAGTT	0.299																																						.											0													20	21	21					15																	49935536		2190	4291	6481	SO:0001589	frameshift_variant	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.676delC	15.37:g.49935536delC	ENSP00000251250:p.Gln226fs		Q567Q3|Q8WVG9|Q9NRU6	Frame_Shift_Del	DEL	ENST00000251250.6	37	CCDS10132.1																																																																																				0.299	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		-	49935536	C	-	49935536	7	5	30	1	0	1	0	1	0	0	0	0	4791	479	17	0	690	0	DTWD1	15	49935536	Frame_Shift_Del	DEL	C	TCGA-KM-8443-01A-11D-2310-10		49935536	52595856	45	2233											
SIN3A	25942	broad.mit.edu	37	chr15	75682085	75682085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaatcttcatactgtgAtgagtctatgttgccatcca	10	14	8	9	0	3	3	1	3	2	0	4	3	4	3	2	0	2	1	2	0	3	4			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr15:75682085A>G	ENST00000394947.3	-	16	3243	c.2929T>C	c.(2929-2931)Tca>Cca	p.S977P	SIN3A_ENST00000360439.4_Missense_Mutation_p.S977P|SIN3A_ENST00000394949.4_Missense_Mutation_p.S977P	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCATACTGTGATGAGTCTATG	0.478																																						.											0													218	171	187					15																	75682085		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2929T>C	15.37:g.75682085A>G	ENSP00000378402:p.Ser977Pro			Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446218	0.63178	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.49139	0.79;0.79;0.79	5.78	5.78	0.91487	.	0.108661	0.64402	D	0.000004	T	0.39410	0.1077	L	0.50333	1.59	0.80722	D	1	P	0.37370	0.592	B	0.33339	0.162	T	0.31052	-0.9957	10	0.37606	T	0.19	-11.3245	10.5229	0.44929	0.8558:0.0:0.0:0.1442	.	977	Q96ST3	SIN3A_HUMAN	P	977	ENSP00000378402:S977P;ENSP00000378403:S977P;ENSP00000353622:S977P	ENSP00000353622:S977P	S	-	1	0	SIN3A	73469138	1.000000	0.71417	0.880000	0.34516	0.996000	0.88848	4.891000	0.63185	2.214000	0.71695	0.528000	0.53228	TCA		0.478	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		G	75682085	A	G	75682085	3	3	30	1	0	0	0	0	1	0	0	0	14325	333	12	4	916	4	SIN3A	15	75682085	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	25746549	75682085	26849307	46	2234											
BCAR1	9564	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr16	75270827	75270827	+	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	cttctccacactggggggcaCgtcatacacctccagcaacg	9	7	9	16	2	2	0	1	0	1	0	4	0	3	0	3	3	3	2	3	3	2	2	rs370653589		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr16:75270827C>T	ENST00000162330.5	-	4	991	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	BCAR1_ENST00000546196.1_Missense_Mutation_p.V260M|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.V307M|BCAR1_ENST00000538440.2_Missense_Mutation_p.V289M|BCAR1_ENST00000393422.2_Missense_Mutation_p.V307M|BCAR1_ENST00000535626.2_Missense_Mutation_p.V141M|BCAR1_ENST00000393420.6_Missense_Mutation_p.V289M|BCAR1_ENST00000542031.2_Missense_Mutation_p.V287M|BCAR1_ENST00000418647.3_Missense_Mutation_p.V335M	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	289	Substrate for kinases. {ECO:0000250}.				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)		CTGGGGGGCACGTCATACACC	0.632																																						.											0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	2,4394	4.2+/-10.8	0,2,2196	85	80	82		1003,919,919,865,865,859,421,235,865	3.9	1	16		82	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	21,21,21,21,21,21,21,21,21	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	335/917,307/889,307/889,289/889,289/871,287/869,141/723,79/661,289/871	75270827	2,12994	2198	4300	6498	SO:0001583	missense	9564			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.865G>A	16.37:g.75270827C>T	ENSP00000162330:p.Val289Met		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963648	0.53507	4.55E-4	0.0	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	3.93	3.93	0.45458	.	0.396664	0.25076	N	0.033324	T	0.60104	0.2243	L	0.47016	1.485	0.38522	D	0.948762	D;D;D;D;D;D;D;D;D	0.89917	0.968;1.0;1.0;1.0;0.967;1.0;1.0;0.966;0.999	P;D;D;D;P;D;D;B;D	0.80764	0.546;0.994;0.945;0.994;0.734;0.981;0.994;0.321;0.987	T	0.63301	-0.6668	10	0.46703	T	0.11	-22.7831	13.8451	0.63463	0.0:1.0:0.0:0.0	.	307;141;335;287;289;307;289;289;79	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	M	289;307;307;289;335;141;289;287;260	ENSP00000162330:V289M;ENSP00000377074:V307M;ENSP00000392708:V307M;ENSP00000443841:V289M;ENSP00000391669:V335M;ENSP00000440370:V141M;ENSP00000377072:V289M;ENSP00000440415:V287M;ENSP00000442161:V260M	ENSP00000162330:V289M	V	-	1	0	BCAR1	73828328	0.976000	0.34144	0.980000	0.43619	0.703000	0.40648	2.234000	0.43035	2.199000	0.70637	0.549000	0.68633	GTG		0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		T	75270827	C	T	75270827	3	4	30	1	0	0	0	0	1	0	0	0	1348	536	19	1	1817	1	BCAR1	16	75270827	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10		75270827	15083926	47	2235											
SMCHD1	23347	mdanderson.org	37	chr18	2707619	2707619	+	Missense_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	atgaattattgcctaatgagGttaggcctgctggaacccct	10	12	10	9	0	0	2	0	2	0	0	0	3	0	3	4	3	3	2	4	3	5	4	rs2276092	byFrequency	TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr18:2707619G>A	ENST00000320876.6	+	16	2460	c.2122G>A	c.(2122-2124)Gtt>Att	p.V708I	SMCHD1_ENST00000261598.8_Missense_Mutation_p.V708I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	708			V -> I (in dbSNP:rs2276092).		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						GCCTAATGAGGTTAGGCCTGC	0.363													A|||	3457	0.690296	0.7141	0.7839	5008	,	,		14767	0.6528		0.6909	False		,,,				2504	0.6299					.											0								A	ILE/VAL	2659,981		969,721,130	179	168	171		2122	0.4	0.4	18	dbSNP_100	171	5737,2423		2009,1719,352	yes	missense	SMCHD1	NM_015295.2	29	2978,2440,482	AA,AG,GG		29.6936,26.9505,28.8475	benign	708/2006	2707619	8396,3404	1820	4080	5900	SO:0001583	missense	23347			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.2122G>A	18.37:g.2707619G>A	ENSP00000326603:p.Val708Ile		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	1490	0.6822344322344323	354	0.7195121951219512	279	0.7707182320441989	348	0.6083916083916084	509	0.6715039577836411	A	11.19	1.566563	0.28003	0.730495	0.703064	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.22539	1.95;1.95	5.46	0.384	0.16244	.	0.723872	0.12914	N	0.428667	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.19031	-1.0318	9	0.18710	T	0.47	-1.9438	11.4814	0.50328	0.4902:0.0:0.5098:0.0	rs2276092;rs61228446;rs2276092	708	A6NHR9	SMHD1_HUMAN	I	708	ENSP00000326603:V708I;ENSP00000261598:V708I	ENSP00000261598:V708I	V	+	1	0	SMCHD1	2697619	0.000000	0.05858	0.397000	0.26308	0.982000	0.71751	0.281000	0.18810	-0.155000	0.11098	-0.360000	0.07572	GTT		0.363	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2707619	G	A	2707619	3	1	30	1	0	0	0	0	1	0	0	0	14788	1261	44	3	2184	3	SMCHD1	18	2707619	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		2707619	75369629	48	2236											
SERPINB3	6317	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr18	61323171	61323171	+	Missense_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	ccattcccatggttctcaacGtgtccttgaggtcatagctc	7	13	8	13	1	2	1	2	1	1	0	6	1	4	1	3	2	2	2	3	2	2	4	rs377088096		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr18:61323171G>A	ENST00000283752.5	-	8	1036	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.T246M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	298					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.T298M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGTTCTCAACGTGTCCTTGAG	0.488																																						.											1	Substitution - Missense(1)	lung(1)						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	180	154	163		893	-3.2	0	18		163	0,8600		0,0,4300	no	missense	SERPINB3	NM_006919.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	298/391	61323171	1,13005	2203	4300	6503	SO:0001583	missense	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.893C>T	18.37:g.61323171G>A	ENSP00000283752:p.Thr298Met		A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	8.978	0.974626	0.18736	2.27E-4	0.0	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84800	-1.9;-1.9	3.07	-3.17	0.05202	Serpin domain (3);	1.383540	0.04944	N	0.459085	D	0.87732	0.6251	M	0.80746	2.51	0.09310	N	1	B;D	0.55385	0.334;0.971	B;P	0.47941	0.146;0.562	T	0.81123	-0.1076	10	0.66056	D	0.02	.	11.7335	0.51752	0.6699:0.0:0.3301:0.0	.	246;298	P29508-2;P29508	.;SPB3_HUMAN	M	298;246	ENSP00000283752:T298M;ENSP00000329498:T246M	ENSP00000283752:T298M	T	-	2	0	SERPINB3	59474151	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.514000	0.00445	-0.831000	0.04256	-0.403000	0.06358	ACG		0.488	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		A	61323171	G	A	61323171	3	1	30	1	0	0	0	0	1	0	0	0	14102	1145	40	1	283	1	SERPINB3	18	61323171	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	58615552	61323171	16754077	49	2237											
SEMA6B	10501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	4557004	4557004	+	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	acacacgtttatgtcgctggGgttagatctccaggtcagct	8	12	11	10	2	2	1	1	0	1	1	4	1	2	1	1	3	1	4	1	3	2	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:4557004G>A	ENST00000586582.1	-	5	638	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	SEMA6B_ENST00000586965.1_Missense_Mutation_p.P110S|SEMA6B_ENST00000301293.3_Missense_Mutation_p.P110S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	110	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)		ATGTCGCTGGGGTTAGATCTC	0.627																																						.											0													66	47	54					19																	4557004		2203	4299	6502	SO:0001583	missense	10501			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.328C>T	19.37:g.4557004G>A	ENSP00000467290:p.Pro110Ser		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178855	0.38511	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.10192	2.9	3.7	3.7	0.42460	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.291091	0.33631	N	0.004705	T	0.17152	0.0412	L	0.33710	1.025	0.32361	N	0.557213	B;P	0.46064	0.126;0.872	B;P	0.53988	0.145;0.739	T	0.05084	-1.0907	10	0.62326	D	0.03	.	14.532	0.67934	0.0:0.0:1.0:0.0	.	110;110	B4DT36;Q9H3T3	.;SEM6B_HUMAN	S	110	ENSP00000301293:P110S	ENSP00000301292:P110S	P	-	1	0	SEMA6B	4508004	0.995000	0.38212	0.995000	0.50966	0.234000	0.25298	3.531000	0.53546	2.084000	0.62774	0.313000	0.20887	CCC		0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		A	4557004	G	A	4557004	3	1	30	1	0	0	0	0	1	0	0	0	14040	1232	43	3	2390	3	SEMA6B	19	4557004	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		4557004	54571979	50	2238											
CLEC4G	339390	ucsc.edu	37	chr19	7796207	7796207	+	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	gccgcgcgctccgtggaggcTgaggagagaggctcctgcag	6	5	18	12	4	0	2	0	1	0	1	2	5	2	4	3	4	1	4	3	4	0	0			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:7796207T>C	ENST00000328853.5	-	3	235		c.e3-2		CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G							integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGTGGAGGCTGAGGAGAGAG	0.751																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	.											0													6	6	6					19																	7796207		2130	4188	6318	SO:0001630	splice_region_variant	339390			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.167-2A>G	19.37:g.7796207T>C				Splice_Site	SNP	ENST00000328853.5	37	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.427072	0.43122	.	.	ENSG00000182566	ENST00000328853	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6526	0.34044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLEC4G	7702207	0.996000	0.38824	0.935000	0.37517	0.179000	0.23085	1.767000	0.38501	1.801000	0.52704	0.454000	0.30748	.		0.751	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492	Intron	C	7796207	T	C	7796207	5	2	30	1	0	0	0	0	0	0	1	0	3517	1594	55	2	744	2	CLEC4G	19	7796207	Splice_Site	SNP	T	TCGA-KM-8443-01A-11D-2310-10	3239203	7796207	51332776	51	2239											
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	8615207	8615207	+	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	tctcctgcagtcgcccgctgTcaatgcccagcaggtaggcg	6	8	12	15	3	2	0	1	0	1	0	4	0	2	0	3	2	3	4	3	2	2	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:8615207T>A	ENST00000338257.8	-	10	1205	c.938A>T	c.(937-939)gAc>gTc	p.D313V	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	313	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						TCGCCCGCTGTCAATGCCCAG	0.627																																						.											0													19	22	21					19																	8615207		2022	4193	6215	SO:0001583	missense	4542			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.938A>T	19.37:g.8615207T>A	ENSP00000344871:p.Asp313Val		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411157	0.83340	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.90676	-2.71	5.14	5.14	0.70334	Myosin head, motor domain (2);	0.332056	0.30714	N	0.009038	D	0.94098	0.8108	M	0.91612	3.225	0.80722	D	1	P;P	0.36909	0.573;0.573	P;B	0.45119	0.47;0.367	D	0.94932	0.8083	10	0.87932	D	0	.	14.1276	0.65233	0.0:0.0:0.0:1.0	.	313;313	B0I1T1;O00160	.;MYO1F_HUMAN	V	358;313	ENSP00000344871:D313V	ENSP00000304899:D358V	D	-	2	0	MYO1F	8521207	1.000000	0.71417	0.816000	0.32577	0.926000	0.56050	6.235000	0.72332	1.941000	0.56285	0.455000	0.32223	GAC		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			A	8615207	T	A	8615207	3	1	30	1	0	0	0	0	1	0	0	0	10073	1667	58	5	2434	5	MYO1F	19	8615207	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10	819000	8615207	50513776	52	2240											
RFX1	5989	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	14076447	14076447	+	Missense_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	cgagcactcactggggatggGccgcagcacgtcgggaatga	9	5	16	11	4	1	1	1	1	0	0	2	4	1	3	1	4	2	3	1	4	1	0			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:14076447G>A	ENST00000254325.4	-	15	2338	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	702					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)			CTGGGGATGGGCCGCAGCACG	0.662																																						.											0													75	59	64					19																	14076447		2202	4300	6502	SO:0001583	missense	5989				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.2104C>T	19.37:g.14076447G>A	ENSP00000254325:p.Pro702Ser			Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239777	0.79912	.	.	ENSG00000132005	ENST00000254325	T	0.07567	3.18	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.01781	-1.1275	10	0.29301	T	0.29	-27.3527	15.2377	0.73443	0.0:0.0:1.0:0.0	.	702	P22670	RFX1_HUMAN	S	702	ENSP00000254325:P702S	ENSP00000254325:P702S	P	-	1	0	RFX1	13937447	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.565000	0.98154	2.100000	0.63781	0.462000	0.41574	CCC		0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		A	14076447	G	A	14076447	3	1	30	1	0	0	0	0	1	0	0	0	13262	1203	42	3	863	3	RFX1	19	14076447	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	5461240	14076447	45052536	53	2241											
CYP4F2	8529	broad.mit.edu	37	chr19	16000303	16000303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcttggaggaagtcatcaAcaccctggctagggagagtg	10	8	15	8	0	2	1	2	0	0	1	2	4	2	3	1	5	1	2	1	5	3	2			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:16000303A>G	ENST00000221700.6	-	7	943	c.848T>C	c.(847-849)gTt>gCt	p.V283A	CYP4F2_ENST00000011989.7_Missense_Mutation_p.V134A	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTCATCAACACCCTGGCT	0.577																																						.											0													78	74	76					19																	16000303		2203	4300	6503	SO:0001583	missense	8529			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.848T>C	19.37:g.16000303A>G	ENSP00000221700:p.Val283Ala			Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	a	0.523	-0.861336	0.02610	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69806	-0.43;1.94	2.72	-1.14	0.09741	.	1.188650	0.06624	U	0.757982	T	0.47322	0.1439	L	0.33245	0.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	T	0.19745	-1.0296	10	0.11485	T	0.65	.	2.902	0.05708	0.5057:0.0:0.2878:0.2066	.	134;283	B4DV75;P78329	.;CP4F2_HUMAN	A	283;134;134	ENSP00000221700:V283A;ENSP00000011989:V134A	ENSP00000011989:V134A	V	-	2	0	CYP4F2	15861303	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	-0.291000	0.08343	-0.171000	0.10797	0.254000	0.18369	GTT		0.577	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		G	16000303	A	G	16000303	3	3	30	1	0	0	0	0	1	0	0	0	4188	43	2	2	742	2	CYP4F2	19	16000303	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	1923856	16000303	43128680	54	2242											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	38976258	38976258	+	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	acatcctggagctgtcggagCgcctggacctgcagcgcttc	6	8	13	14	3	0	0	0	0	0	0	3	3	1	3	3	3	4	3	3	3	0	1	rs371777056		TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:38976258C>T	ENST00000359596.3	+	34	4963	c.4963C>T	c.(4963-4965)Cgc>Tgc	p.R1655C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1655C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1655C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1655	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)	GCTGTCGGAGCGCCTGGACCT	0.627																																						.											0								C	CYS/ARG,CYS/ARG	1,4399		0,1,2199	44	42	42		4963,4963	4	1	19		42	0,8586		0,0,4293	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	180,180	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1655/5039,1655/5034	38976258	1,12985	2200	4293	6493	SO:0001583	missense	6261			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.4963C>T	19.37:g.38976258C>T	ENSP00000352608:p.Arg1655Cys		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362048	0.61403	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96830	-4.14;-4.14;-4.14	3.98	3.98	0.46160	.	0.078316	0.48767	U	0.000169	D	0.97081	0.9046	L	0.51422	1.61	0.53005	D	0.999962	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.973	D	0.97725	1.0199	10	0.66056	D	0.02	.	15.8478	0.78905	0.0:1.0:0.0:0.0	.	1655;1655	P21817-2;P21817	.;RYR1_HUMAN	C	1655	ENSP00000352608:R1655C;ENSP00000347667:R1655C;ENSP00000354254:R1655C	ENSP00000347667:R1655C	R	+	1	0	RYR1	43668098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.839000	0.69395	2.043000	0.60533	0.650000	0.86243	CGC		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38976258	C	T	38976258	3	4	30	1	0	0	0	0	1	0	0	0	13768	768	27	1	5097	1	RYR1	19	38976258	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10	22975955	38976258	20152725	55	2243											
RSPH6A	81492	ucsc.edu	37	chr19	46318402	46318402	+	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	cggcccggaggctgctgggcAgggcgctcagggtagggcgg	4	4	22	11	4	1	0	1	0	0	0	1	1	1	1	1	8	1	5	1	8	1	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:46318402A>G	ENST00000221538.3	-	1	175	c.33T>C	c.(31-33)ccT>ccC	p.P11P	RSPH6A_ENST00000597055.1_Silent_p.P11P|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	11						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						GCTGCTGGGCAGGGCGCTCAG	0.677																																						.											0													12	13	13					19																	46318402		2190	4279	6469	SO:0001819	synonymous_variant	81492			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.33T>C	19.37:g.46318402A>G			Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																				0.677	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			G	46318402	A	G	46318402	2	3	30	1	0	0	0	0	0	0	0	1	13707	175	7	2		2	RSPH6A	19	46318402	Silent	SNP	A	TCGA-KM-8443-01A-11D-2310-10	7342144	46318402	12810581	56	2244											
EHD2	30846	broad.mit.edu;bcgsc.ca	37	chr19	48220038	48220038	+	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	tggaggacgcagacttcgacGgcaagcccatggtgctggtg	8	7	16	10	3	0	1	0	0	0	1	1	4	0	3	1	5	2	3	1	5	1	1	rs34140460	byFrequency	TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr19:48220038G>A	ENST00000263277.3	+	2	420	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	57	Dynamin-type G.		G -> S (in dbSNP:rs34140460).		blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGACTTCGACGGCAAGCCCAT	0.682													G|||	6	0.00119808	0.0045	0	5008	,	,		16363	0		0	False		,,,				2504	0					.											0								G	SER/GLY	16,4390	22.3+/-47.3	0,16,2187	38	31	33		169	2.7	1	19	dbSNP_126	33	0,8600		0,0,4300	yes	missense	EHD2	NM_014601.3	56	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	benign	57/544	48220038	16,12990	2203	4300	6503	SO:0001583	missense	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.169G>A	19.37:g.48220038G>A	ENSP00000263277:p.Gly57Ser		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	11.14	1.551905	0.27739	0.003631	0.0	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	D	0.95342	-3.68	3.75	2.7	0.31948	.	0.182929	0.46758	N	0.000267	T	0.75946	0.3919	N	0.02539	-0.55	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.68938	-0.5277	10	0.17369	T	0.5	-30.8741	6.1058	0.20073	0.2377:0.0:0.7623:0.0	rs34140460	57	Q9NZN4	EHD2_HUMAN	S	57	ENSP00000263277:G57S	ENSP00000263277:G57S	G	+	1	0	EHD2	52911850	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.462000	0.53042	0.931000	0.37242	0.407000	0.27541	GGC		0.682	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			A	48220038	G	A	48220038	3	1	30	1	0	0	0	0	1	0	0	0	4978	1116	39	1	171	1	EHD2	19	48220038	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10	1901636	48220038	10908945	57	2245											
RNF160	26046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr21	30331996	30331996	+	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	tctaacaatgattctttcaaCatatacgtctccaatcaagt	14	14	3	10	1	5	1	2	1	3	0	6	1	5	1	1	0	3	0	1	0	7	5			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr21:30331996C>T	ENST00000361371.5	-	13	2456	c.2377G>A	c.(2377-2379)Gtt>Att	p.V793I	LTN1_ENST00000389194.2_Missense_Mutation_p.V839I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	793					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						ATTCTTTCAACATATACGTCT	0.279																																						.											0													36	31	33					21																	30331996		2203	4300	6503	SO:0001583	missense	26046			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.2377G>A	21.37:g.30331996C>T	ENSP00000354977:p.Val793Ile		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	14.19	2.460243	0.43736	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.19532	2.14;2.15	5.65	2.78	0.32641	.	0.346007	0.30602	N	0.009270	T	0.10035	0.0246	N	0.08118	0	0.51767	D	0.999939	B	0.24721	0.11	B	0.16722	0.016	T	0.11966	-1.0566	10	0.54805	T	0.06	.	8.7649	0.34698	0.1226:0.7461:0.0:0.1313	.	793	O94822	LTN1_HUMAN	I	839;793	ENSP00000373846:V839I;ENSP00000354977:V793I	ENSP00000354977:V793I	V	-	1	0	LTN1	29253867	1.000000	0.71417	0.994000	0.49952	0.599000	0.36880	1.160000	0.31761	0.911000	0.36747	0.655000	0.94253	GTT		0.279	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		T	30331996	C	T	30331996	3	4	30	1	0	0	0	0	1	0	0	0	13455	478	17	4	2995	4	RNF160	21	30331996	Missense_Mutation	SNP	C	TCGA-KM-8443-01A-11D-2310-10		30331996	17797899	58	2246											
MX2	4600	bcgsc.ca	37	chr21	42770882	42770882	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagaaggcgaccgaggAgctgcggcgttgcggggctg	7	4	18	12	5	0	1	0	0	0	1	0	4	0	2	3	5	3	3	3	5	1	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr21:42770882A>G	ENST00000330714.3	+	9	1392	c.1208A>G	c.(1207-1209)gAg>gGg	p.E403G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	403					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)				GCGACCGAGGAGCTGCGGCGT	0.517																																						.											0													82	87	86					21																	42770882		2203	4300	6503	SO:0001583	missense	4600				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.1208A>G	21.37:g.42770882A>G	ENSP00000333657:p.Glu403Gly		B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940961	0.52972	.	.	ENSG00000183486	ENST00000330714	T	0.78816	-1.21	3.94	3.94	0.45596	Dynamin central domain (1);	0.110683	0.64402	D	0.000013	D	0.88411	0.6429	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89852	0.4010	10	0.87932	D	0	-27.61	10.8405	0.46712	1.0:0.0:0.0:0.0	.	403	P20592	MX2_HUMAN	G	403	ENSP00000333657:E403G	ENSP00000333657:E403G	E	+	2	0	MX2	41692752	1.000000	0.71417	0.994000	0.49952	0.066000	0.16364	3.858000	0.55979	1.731000	0.51592	0.482000	0.46254	GAG		0.517	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		G	42770882	A	G	42770882	3	3	30	1	0	0	0	0	1	0	0	0	9998	304	11	2	1238	2	MX2	21	42770882	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	12438886	42770882	5359013	59	2247											
MCM3AP	8888	ucsc.edu	37	chr21	47697480	47697480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctggtcaagcaggcggtActtctccttggatgtctcag	6	13	11	11	1	4	0	2	0	3	0	7	1	4	1	1	4	2	2	1	4	2	3			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr21:47697480A>G	ENST00000397708.1	-	6	2073	c.1819T>C	c.(1819-1821)Tac>Cac	p.Y607H	MCM3AP_ENST00000291688.1_Missense_Mutation_p.Y607H			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	607					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)					AGCAGGCGGTACTTCTCCTTG	0.592																																						.											0													163	132	143					21																	47697480		2203	4300	6503	SO:0001583	missense	8888			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.1819T>C	21.37:g.47697480A>G	ENSP00000380820:p.Tyr607His		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927853	0.92389	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.04706	3.57;3.57	5.74	5.74	0.90152	.	0.057126	0.64402	D	0.000001	T	0.19886	0.0478	M	0.68952	2.095	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	T	0.00189	-1.1938	10	0.45353	T	0.12	-19.4308	16.0421	0.80691	1.0:0.0:0.0:0.0	.	607	O60318	MCM3A_HUMAN	H	607	ENSP00000380820:Y607H;ENSP00000291688:Y607H	ENSP00000291688:Y607H	Y	-	1	0	MCM3AP	46521908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.131000	0.94446	2.192000	0.70111	0.533000	0.62120	TAC		0.592	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		G	47697480	A	G	47697480	3	3	30	1	0	0	0	0	1	0	0	0	9388	391	14	2	4219	2	MCM3AP	21	47697480	Missense_Mutation	SNP	A	TCGA-KM-8443-01A-11D-2310-10	4926598	47697480	432415	60	2248											
CSF2RB	1439	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	37334203	37334203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaaggaacaatcctGtcccccctgaggccaaaagc	12	5	9	15	0	1	1	1	1	0	0	3	2	3	2	6	3	2	0	6	3	5	0			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr22:37334203G>T	ENST00000403662.3	+	14	2575	c.2353G>T	c.(2353-2355)Gtc>Ttc	p.V785F	CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791F|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732F|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V791F			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	785					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)	GAACAATCCTGTCCCCCCTGA	0.642																																						.											0													52	51	51					22																	37334203		2203	4300	6503	SO:0001583	missense	1439			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.2353G>T	22.37:g.37334203G>T	ENSP00000384053:p.Val785Phe		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954914	0.53293	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92397	-2.52;-3.03;-3.03;-3.03	5.38	1.62	0.23740	.	0.614872	0.14560	N	0.312136	D	0.88994	0.6589	L	0.29908	0.895	0.09310	N	1	D;D	0.61080	0.986;0.989	P;P	0.54100	0.742;0.726	T	0.79964	-0.1581	10	0.52906	T	0.07	-8.6352	5.7541	0.18162	0.1998:0.1672:0.633:0.0	.	791;785	P32927-2;P32927	.;IL3RB_HUMAN	F	785;785;791;791;732	ENSP00000384053:V785F;ENSP00000262825:V791F;ENSP00000385271:V791F;ENSP00000440003:V732F	ENSP00000262825:V791F	V	+	1	0	CSF2RB	35664149	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.125000	0.15749	0.632000	0.30432	0.555000	0.69702	GTC		0.642	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		T	37334203	G	T	37334203	3	4	30	1	0	0	0	0	1	0	0	0	3935	1377	48	5	2403	5	CSF2RB	22	37334203	Missense_Mutation	SNP	G	TCGA-KM-8443-01A-11D-2310-10		37334203	13970363	61	2249											
TTLL1	25809	broad.mit.edu	37	chr22	43459837	43459837	+	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	accccgtgtttctggatggcGacgttggtgagatgaacgaa	9	10	14	8	4	1	2	0	2	1	1	1	6	1	3	2	3	1	2	2	3	2	2			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr22:43459837G>A	ENST00000266254.7	-	7	969	c.729C>T	c.(727-729)gtC>gtT	p.V243V	TTLL1_ENST00000331018.7_Silent_p.V243V	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	243	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCTGGATGGCGACGTTGGTGA	0.532																																						.											0													219	189	199					22																	43459837		2203	4300	6503	SO:0001819	synonymous_variant	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.729C>T	22.37:g.43459837G>A			B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241791	0.22711	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.98	-12.0	0.00017	.	.	.	.	.	T	0.40815	0.1132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52041	-0.8628	4	.	.	.	.	5.8419	0.18639	0.4626:0.2157:0.2617:0.06	.	.	.	.	L	169	.	.	S	-	2	0	TTLL1	41789781	0.019000	0.18553	0.798000	0.32154	0.939000	0.58152	-0.794000	0.04584	-1.237000	0.02539	-0.964000	0.02622	TCG		0.532	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		A	43459837	G	A	43459837	2	1	30	1	0	0	0	0	0	0	0	1	16719	1045	37	1		1	TTLL1	22	43459837	Silent	SNP	G	TCGA-KM-8443-01A-11D-2310-10	6125634	43459837	7844729	62	2250											
ARHGAP8	23779	ucsc.edu	37	chr22	45243892	45243892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccggagatccgccagcgTgcagaccgtccgcgagatcc	7	6	13	15	6	0	3	0	0	0	3	4	5	4	3	6	1	2	2	6	1	0	1			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr22:45243892T>C	ENST00000389774.2	+	10	944	c.803T>C	c.(802-804)gTg>gCg	p.V268A	ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V237A|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V359A|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V447A|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V237A|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V368A|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.V447A	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	268	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TCCGCCAGCGTGCAGACCGTC	0.662																																						.											0													66	58	61					22																	45243892		2203	4300	6503	SO:0001583	missense	553158			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.803T>C	22.37:g.45243892T>C	ENSP00000374424:p.Val268Ala		A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	2.592|2.592	-0.294895|-0.294895	0.05568|0.05568	.|.	.|.	ENSG00000248405|ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000515632|ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099	.|T;T;T;T;T;T;T	.|0.16324	.|2.35;2.35;2.35;2.35;2.35;2.35;2.35	4.67|4.67	-0.485|-0.485	0.12067|0.12067	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.215683	.|0.23077	.|N	.|0.052192	T|T	0.06234|0.06234	0.0161|0.0161	N|N	0.05306|0.05306	-0.075|-0.075	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B	.|0.15930	.|0.001;0.001;0.012;0.001;0.001;0.001;0.015	.|B;B;B;B;B;B;B	.|0.19946	.|0.008;0.008;0.011;0.002;0.012;0.01;0.027	T|T	0.42531|0.42531	-0.9446|-0.9446	5|10	.|0.09843	.|T	.|0.71	.|.	8.0784|8.0784	0.30731|0.30731	0.0:0.5089:0.0:0.4911|0.0:0.5089:0.0:0.4911	.|.	.|273;237;273;268;278;447;368	.|B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3	.|.;.;.;RHG08_HUMAN;.;.;.	R|A	291|368;447;447;359;268;237;237	.|ENSP00000354732:V368A;ENSP00000262731:V447A;ENSP00000429240:V447A;ENSP00000374423:V359A;ENSP00000374424:V268A;ENSP00000337287:V237A;ENSP00000348407:V237A	.|ENSP00000337287:V237A	C|V	+|+	1|2	0|0	PRR5-ARHGAP8|PRR5-ARHGAP8;ARHGAP8	43622556|43622556	0.208000|0.208000	0.23494|0.23494	0.002000|0.002000	0.10522|0.10522	0.092000|0.092000	0.18411|0.18411	1.180000|1.180000	0.32005|0.32005	-0.310000|-0.310000	0.08766|0.08766	-0.253000|-0.253000	0.11424|0.11424	TGC|GTG		0.662	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		C	45243892	T	C	45243892	3	2	30	1	0	0	0	0	1	0	0	0	888	1696	59	2	837	2	ARHGAP8	22	45243892	Missense_Mutation	SNP	T	TCGA-KM-8443-01A-11D-2310-10	1784055	45243892	6060674	63	2251											
NUP50	10762	mdanderson.org	37	chr22	45574342	45574342	+	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	gatctgacacctatctttaaAgactatgagaaatatttagc	15	13	6	7	0	2	3	0	2	2	2	2	5	2	3	1	0	1	0	1	0	7	7			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chr22:45574342A>G	ENST00000347635.4	+	5	1030	c.564A>G	c.(562-564)aaA>aaG	p.K188K	NUP50_ENST00000396096.2_Silent_p.K160K|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Silent_p.K160K|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	188	5 X 2 AA repeats of F-G.|Binding to CDKN1B. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|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 membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTATCTTTAAAGACTATGAGA	0.453																																						.											0													42	42	42					22																	45574342		2202	4296	6498	SO:0001819	synonymous_variant	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.564A>G	22.37:g.45574342A>G			B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	ENST00000347635.4	37	CCDS14062.1																																																																																				0.453	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			G	45574342	A	G	45574342	2	3	30	1	0	0	0	0	0	0	0	1	10766	69	3	2		2	NUP50	22	45574342	Silent	SNP	A	TCGA-KM-8443-01A-11D-2310-10	330450	45574342	5730224	64	2252											
MAGEC1	9947	mdanderson.org	37	chrX	140994087	140994087	+	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	agtacttttgagggttttccCcagtctcctctccagattcc	6	15	7	13	0	2	2	0	1	2	1	6	2	4	2	5	1	1	2	5	1	1	6			TCGA-KM-8443-01A-11D-2310-10	TCGA-KM-8443-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c00de7a0-0b09-4e07-988c-ef2a7f8e932a	982dbbf8-fdf8-4653-91ed-2e857e1a7708	g.chrX:140994087C>A	ENST00000285879.4	+	4	1183	c.897C>A	c.(895-897)ccC>ccA	p.P299P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	299				P -> A (in Ref. 1 and 2). {ECO:0000305}.						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)					AGGGTTTTCCCCAGTCTCCTC	0.493										HNSCC(15;0.026)																												.											0													124	116	119					X																	140994087		2199	4293	6492	SO:0001819	synonymous_variant	9947			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.897C>A	X.37:g.140994087C>A			A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																				0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994087	C	A	140994087	2	1	30	1	0	0	0	0	0	0	0	1	9180	610	22	5		5	MAGEC1	23	140994087	Silent	SNP	C	TCGA-KM-8443-01A-11D-2310-10		140994087	14276473	65	2253											
PLEKHG5	57449	ucsc.edu	37	chr1	6531590	6531590	+	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	tccccgggctgtagcagcgcTcgcgtgcgccgcgccttctc	2	8	13	18	7	1	0	0	0	1	0	4	0	2	0	4	1	3	4	4	1	1	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:6531590T>C	ENST00000400915.3	-	13	1473	c.1407A>G	c.(1405-1407)cgA>cgG	p.R469R	PLEKHG5_ENST00000377737.2_Silent_p.R413R|PLEKHG5_ENST00000537245.1_Silent_p.R492R|PLEKHG5_ENST00000377740.3_Silent_p.R490R|PLEKHG5_ENST00000535355.1_Silent_p.R482R|PLEKHG5_ENST00000377732.1_Silent_p.R450R|PLEKHG5_ENST00000377748.1_Silent_p.R490R|PLEKHG5_ENST00000377728.3_Silent_p.R413R|PLEKHG5_ENST00000400913.1_Silent_p.R413R|PLEKHG5_ENST00000544978.1_Silent_p.R413R|PLEKHG5_ENST00000377725.1_Silent_p.R413R|PLEKHG5_ENST00000340850.5_Silent_p.R413R	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	469	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)		GTAGCAGCGCTCGCGTGCGCC	0.706																																						.											0													13	17	15					1																	6531590		2198	4283	6481	SO:0001819	synonymous_variant	57449			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.1407A>G	1.37:g.6531590T>C			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	CCDS41241.1																																																																																				0.706	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		C	6531590	T	C	6531590	2	2	31	1	0	0	0	0	0	0	0	1	12073	1538	54	2		2	PLEKHG5	1	6531590	Silent	SNP	T	TCGA-KM-8476-01A-11D-2310-10		6531590	242719031	1	2254											
SFPQ	6421	ucsc.edu;bcgsc.ca	37	chr1	35658491	35658491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcggaggcttagggccgcTctggcccgggccaggaccca	6	5	16	14	3	1	0	0	0	1	0	2	3	1	2	4	6	0	2	4	6	1	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:35658491T>C	ENST00000357214.5	-	1	258	c.160A>G	c.(160-162)Agc>Ggc	p.S54G		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	54	Gln/Glu/Pro-rich.				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)				TTAGGGCCGCTCTGGCCCGGG	0.731			T	TFE3	papillary renal cell																																	.		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													11	13	12					1																	35658491		1964	3988	5952	SO:0001583	missense	6421			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.160A>G	1.37:g.35658491T>C	ENSP00000349748:p.Ser54Gly		P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	T	5.418	0.262247	0.10239	.	.	ENSG00000116560	ENST00000357214	T	0.24350	1.86	2.69	0.382	0.16234	.	2.256580	0.01555	N	0.019877	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17745	-1.0359	10	0.22706	T	0.39	.	5.7667	0.18231	0.0:0.6264:0.0:0.3736	.	54	P23246	SFPQ_HUMAN	G	54	ENSP00000349748:S54G	ENSP00000349748:S54G	S	-	1	0	SFPQ	35431078	0.004000	0.15560	0.884000	0.34674	0.067000	0.16453	0.060000	0.14342	0.317000	0.23160	-0.425000	0.05940	AGC		0.731	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		C	35658491	T	C	35658491	3	2	31	1	0	0	0	0	1	0	0	0	14160	1551	54	2	2003	2	SFPQ	1	35658491	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	29126901	35658491	213592130	2	2255											
CAP1	5538	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	40537164	40537164	+	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	agttcaagaccctatggaacGggcagaagttggtcaccaca	13	7	11	10	1	2	2	2	0	0	2	2	3	2	3	2	3	1	3	2	3	4	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:40537164G>A	ENST00000433473.3	-	0	2740				CAP1_ENST00000372797.3_Missense_Mutation_p.G463R|CAP1_ENST00000372792.2_Missense_Mutation_p.G463R|CAP1_ENST00000372798.1_Missense_Mutation_p.G462R|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.G462R|CAP1_ENST00000372802.1_Missense_Mutation_p.G462R|PPT1_ENST00000372775.2_5'Flank|CAP1_ENST00000372805.3_Missense_Mutation_p.G463R	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTATGGAACGGGCAGAAGTT	0.463																																						.											0													73	66	68					1																	40537164		1897	4098	5995	SO:0001628	intergenic_variant	10487			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40537164G>A			B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	CCDS447.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736430	0.89482	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02	5.45	5.45	0.79879	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	M	0.90082	3.085	0.80722	D	1	P;D	0.64830	0.925;0.994	B;P	0.56474	0.409;0.799	T	0.23940	-1.0174	10	0.87932	D	0	-6.457	18.4515	0.90705	0.0:0.0:1.0:0.0	.	410;463	E7ENY9;Q01518	.;CAP1_HUMAN	R	463;462;463;440;462;462;463	ENSP00000361883:G463R;ENSP00000361888:G462R;ENSP00000361878:G463R;ENSP00000361884:G462R;ENSP00000344832:G462R;ENSP00000361891:G463R	ENSP00000344832:G462R	G	+	1	0	CAP1	40309751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.507000	0.97996	2.838000	0.97847	0.650000	0.86243	GGG		0.463	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		A	40537164	G	A	40537164	1	1	31	0	1	0	0	0	0	0	0	0	2619	1116	39	1		1	CAP1	1	40537164	IGR	SNP	G	TCGA-KM-8476-01A-11D-2310-10	4878673	40537164	208713457	3	2256											
TCHHL1	126637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	152060616	152060616	+	Missense_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	gacatttctcaggagctgagGcatctttacaaactcaggag	12	10	10	9	0	3	1	2	1	2	0	4	4	3	3	0	3	3	2	0	3	2	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:152060616G>A	ENST00000368806.1	-	2	68	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	2							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)			AGGAGCTGAGGCATCTTTACA	0.448																																						.											0													78	74	76					1																	152060616		2203	4300	6503	SO:0001583	missense	126637				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.4C>T	1.37:g.152060616G>A	ENSP00000357796:p.Pro2Ser		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	11.63	1.695254	0.30052	.	.	ENSG00000182898	ENST00000368806	T	0.11821	2.74	5.9	4.02	0.46733	EF-hand-like domain (1);	0.000000	0.36101	N	0.002784	T	0.08492	0.0211	L	0.35542	1.07	0.31578	N	0.655416	D	0.67145	0.996	D	0.66084	0.941	T	0.04294	-1.0962	10	0.09843	T	0.71	-2.446	9.5029	0.39028	0.165:0.0:0.835:0.0	.	2	Q5QJ38	TCHL1_HUMAN	S	2	ENSP00000357796:P2S	ENSP00000357796:P2S	P	-	1	0	TCHHL1	150327240	0.999000	0.42202	0.987000	0.45799	0.256000	0.26092	0.457000	0.21875	0.813000	0.34350	0.655000	0.94253	CCT		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		A	152060616	G	A	152060616	3	1	31	1	0	0	0	0	1	0	0	0	15698	1203	42	3	2718	3	TCHHL1	1	152060616	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	111523452	152060616	97190005	4	2257											
HRNR	388697	mdanderson.org	37	chr1	152187510	152187510	+	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	tgagccagacccatgttggcCgtggctggaggagtgccccg	6	7	16	12	2	0	2	0	1	0	1	0	4	0	4	5	4	2	2	5	4	0	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:152187510C>T	ENST00000368801.2	-	3	6670	c.6595G>A	c.(6595-6597)Ggc>Agc	p.G2199S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2199					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)			CCATGTTGGCCGTGGCTGGAG	0.632																																						.											0													49	66	61					1																	152187510		2172	4285	6457	SO:0001583	missense	388697			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.6595G>A	1.37:g.152187510C>T	ENSP00000357791:p.Gly2199Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.711	0.912060	0.17907	.	.	ENSG00000197915	ENST00000368801	T	0.17370	2.28	3.28	0.982	0.19762	.	.	.	.	.	T	0.01156	0.0038	N	0.04880	-0.145	0.09310	N	1	P	0.48162	0.906	B	0.27380	0.079	T	0.37197	-0.9716	9	0.11794	T	0.64	.	5.1396	0.14952	0.0:0.51:0.0:0.49	rs61814942	2199	Q86YZ3	HORN_HUMAN	S	2199	ENSP00000357791:G2199S	ENSP00000357791:G2199S	G	-	1	0	HRNR	150454134	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.145000	0.03194	0.054000	0.16065	0.558000	0.71614	GGC		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152187510	C	T	152187510	3	4	31	1	0	0	0	0	1	0	0	0	7359	652	23	1	1961	1	HRNR	1	152187510	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	126894	152187510	97063111	5	2258											
RC3H1	149041	mdanderson.org;bcgsc.ca	37	chr1	173921192	173921192	+	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	tttggttccaatgtaggagcCgatggtgtcacatgaccagg	9	11	13	8	1	1	1	1	1	0	0	2	3	2	2	3	4	1	2	3	4	2	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:173921192C>A	ENST00000367696.2	-	14	2806	c.2455G>T	c.(2455-2457)Ggc>Tgc	p.G819C	RC3H1_ENST00000367694.2_Missense_Mutation_p.G819C|RC3H1_ENST00000258349.4_Missense_Mutation_p.G819C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	819					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATGTAGGAGCCGATGGTGTCA	0.408																																						.											0													143	124	131					1																	173921192		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2455G>T	1.37:g.173921192C>A	ENSP00000356669:p.Gly819Cys		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895293	0.91962	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.59638	0.26;0.26;0.25	5.77	5.77	0.91146	.	0.043803	0.85682	N	0.000000	T	0.67915	0.2944	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	P;P;D;P	0.65874	0.87;0.87;0.939;0.87	T	0.69030	-0.5253	10	0.72032	D	0.01	-12.1335	19.9913	0.97366	0.0:1.0:0.0:0.0	.	819;819;819;819	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	C	819	ENSP00000356669:G819C;ENSP00000258349:G819C;ENSP00000356667:G819C	ENSP00000258349:G819C	G	-	1	0	RC3H1	172187815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.761000	0.68801	2.734000	0.93682	0.585000	0.79938	GGC		0.408	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		A	173921192	C	A	173921192	3	1	31	1	0	0	0	0	1	0	0	0	13166	652	23	5	974	5	RC3H1	1	173921192	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	21733682	173921192	75329429	6	2259											
OR2M2	391194	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	248343361	248343361	+	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	caatcacagcccaccacacaCgttcctcttctttctggtcc	8	11	4	18	1	4	0	1	0	3	0	6	0	6	0	4	1	1	1	4	1	1	3	rs146796261		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr1:248343361C>T	ENST00000359682.2	+	1	74	c.74C>T	c.(73-75)aCg>aTg	p.T25M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACCACACACGTTCCTCTTC	0.498																																						.											0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	255	248	250		74	-2.9	0	1	dbSNP_134	250	0,8600		0,0,4300	no	missense	OR2M2	NM_001004688.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	25/348	248343361	1,13005	2203	4300	6503	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.74C>T	1.37:g.248343361C>T	ENSP00000352710:p.Thr25Met		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	4.933	0.173437	0.09391	2.27E-4	0.0	ENSG00000198601	ENST00000359682	T	0.00441	7.41	1.44	-2.87	0.05700	.	1.263570	0.06373	U	0.713836	T	0.00178	0.0005	N	0.20574	0.59	0.09310	N	1	P	0.42337	0.776	B	0.28991	0.097	T	0.30060	-0.9991	10	0.34782	T	0.22	.	0.3199	0.00301	0.3623:0.2502:0.1964:0.191	.	25	Q96R28	OR2M2_HUMAN	M	25	ENSP00000352710:T25M	ENSP00000352710:T25M	T	+	2	0	OR2M2	246409984	0.000000	0.05858	0.015000	0.15790	0.152000	0.21847	-1.494000	0.02296	-0.693000	0.05121	0.298000	0.19748	ACG		0.498	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		T	248343361	C	T	248343361	3	4	31	1	0	0	0	0	1	0	0	0	11010	536	19	1	76	1	OR2M2	1	248343361	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	74422169	248343361	907260	7	2260											
ARHGAP15	55843	broad.mit.edu	37	chr2	143959765	143959765	+	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	gatgtcattcctccattggaAcaactggtgagtgtttaagt	10	14	10	7	0	1	1	1	1	0	0	3	3	3	2	2	2	2	1	2	2	3	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr2:143959765A>G	ENST00000295095.6	+	3	395	c.228A>G	c.(226-228)gaA>gaG	p.E76E	ARHGAP15_ENST00000409869.1_Silent_p.E76E	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	76					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTCCATTGGAACAACTGGTGA	0.313																																						.											0													104	104	104					2																	143959765		2203	4300	6503	SO:0001819	synonymous_variant	55843			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.228A>G	2.37:g.143959765A>G			Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	CCDS2184.1																																																																																				0.313	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		G	143959765	A	G	143959765	2	3	31	1	0	0	0	0	0	0	0	1	866	40	2	2		2	ARHGAP15	2	143959765	Silent	SNP	A	TCGA-KM-8476-01A-11D-2310-10		143959765	99239608	8	2261											
OR6B3	150681	broad.mit.edu	37	chr2	240984793	240984793	+	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	gaagaaggctctccagcagcCggtggccgaggggatgcgca	9	4	17	11	3	1	1	0	0	1	1	2	4	1	2	3	5	3	3	3	5	2	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr2:240984793C>T	ENST00000319423.4	-	1	696	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	233						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(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CTCCAGCAGCCGGTGGCCGAG	0.577																																						.											0													46	53	51					2																	240984793		2098	4229	6327	SO:0001583	missense	150681				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"GPCR / Class A : Olfactory receptors"	15042	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 3 pseudogene"	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.697G>A	2.37:g.240984793C>T	ENSP00000322435:p.Gly233Ser		Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	c	10.51	1.369882	0.24771	.	.	ENSG00000178586	ENST00000319423	T	0.00293	8.26	4.09	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000223	T	0.00468	0.0015	M	0.65498	2.005	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48115	-0.9063	10	0.72032	D	0.01	.	6.6505	0.22959	0.0:0.6118:0.0:0.3882	.	233	Q8NGW1	OR6B3_HUMAN	S	233	ENSP00000322435:G233S	ENSP00000322435:G233S	G	-	1	0	OR6B3	240633466	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.167000	0.16602	0.284000	0.22305	-0.931000	0.02705	GGC		0.577	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			T	240984793	C	T	240984793	3	4	31	1	0	0	0	0	1	0	0	0	11189	652	23	1	301	1	OR6B3	2	240984793	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	97025028	240984793	2214580	9	2262											
SLC4A7	9497	mdanderson.org	37	chr3	27444780	27444780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgagtaatataacacacaAggctgcttgcatctgttgca	13	11	8	9	1	1	0	0	0	1	0	2	1	1	0	0	1	4	6	0	1	4	5			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:27444780A>G	ENST00000295736.5	-	15	2214	c.2144T>C	c.(2143-2145)cTt>cCt	p.L715P	SLC4A7_ENST00000440156.1_Missense_Mutation_p.L711P|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L591P|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L596P|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L711P|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L265P|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L596P|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L707P|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L724P|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L600P|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	715					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)	ATAACACACAAGGCTGCTTGC	0.378																																						.											0													105	104	104					3																	27444780		2203	4300	6503	SO:0001583	missense	9497			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.2144T>C	3.37:g.27444780A>G	ENSP00000295736:p.Leu715Pro		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665776	0.67700	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;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;-1.74;-1.74	5.14	5.14	0.70334	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.94049	0.8093	H	0.96889	3.9	0.80722	D	1	P;P;P;D;P;P;P;P;P	0.89917	0.576;0.606;0.576;1.0;0.576;0.552;0.552;0.576;0.606	P;P;P;D;P;P;P;P;P	0.97110	0.496;0.582;0.496;1.0;0.496;0.447;0.447;0.496;0.582	D	0.95937	0.8943	10	0.87932	D	0	.	14.9553	0.71107	1.0:0.0:0.0:0.0	.	711;596;707;711;724;265;591;715;596	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	P	266;715;591;724;711;596;707;596;711;600;265;611	ENSP00000411031:L266P;ENSP00000295736:L715P;ENSP00000416368:L591P;ENSP00000390394:L724P;ENSP00000414797:L711P;ENSP00000394252:L596P;ENSP00000406605:L707P;ENSP00000407382:L596P;ENSP00000406804:L711P;ENSP00000395336:L600P;ENSP00000373429:L265P;ENSP00000388703:L611P	ENSP00000295736:L715P	L	-	2	0	SLC4A7	27419784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	1.945000	0.56424	0.459000	0.35465	CTT		0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		G	27444780	A	G	27444780	3	3	31	1	0	0	0	0	1	0	0	0	14658	72	3	2	1544	2	SLC4A7	3	27444780	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10		27444780	170577650	10	2263											
LAMB2	3913	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	49162828	49162828	+	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	acgctggcagcggtcacagcGaagcccaaaggcaccagttc	11	4	12	14	3	1	0	1	0	0	0	2	1	1	0	2	3	3	4	2	3	2	1	rs563405094		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:49162828G>A	ENST00000418109.1	-	20	2742	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R860C|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	860	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)		CGGTCACAGCGAAGCCCAAAG	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		16151	0		0	False		,,,				2504	0					.											0													62	59	60					3																	49162828		2203	4300	6503	SO:0001583	missense	3913				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.2578C>T	3.37:g.49162828G>A	ENSP00000388325:p.Arg860Cys		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170780	0.78452	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.63417	-0.04;-0.04	6.08	6.08	0.98989	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.166713	0.51477	D	0.000090	D	0.83492	0.5266	M	0.93106	3.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	D	0.86585	0.1856	10	0.87932	D	0	.	15.3887	0.74726	0.0:0.0:0.8608:0.1392	.	860	P55268	LAMB2_HUMAN	C	860	ENSP00000388325:R860C;ENSP00000307156:R860C	ENSP00000307156:R860C	R	-	1	0	LAMB2	49137832	0.738000	0.28186	1.000000	0.80357	0.991000	0.79684	3.900000	0.56295	2.894000	0.99253	0.655000	0.94253	CGC		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		A	49162828	G	A	49162828	3	1	31	1	0	0	0	0	1	0	0	0	8611	1058	37	1	2874	1	LAMB2	3	49162828	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	21718048	49162828	148859602	11	2264											
CYB561D2	11068	broad.mit.edu;bcgsc.ca	37	chr3	50391044	50391044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttgctgggcatgtgcTcactctggttcactgcctct	3	14	10	14	0	5	0	2	0	3	0	5	0	5	0	2	2	3	4	2	2	0	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:50391044T>C	ENST00000418577.1	+	3	1114	c.538T>C	c.(538-540)Tca>Cca	p.S180P	XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.S180P|CYB561D2_ENST00000232508.5_Missense_Mutation_p.S180P|NPRL2_ENST00000232501.3_5'Flank|CYB561D2_ENST00000424512.1_Missense_Mutation_p.S180P			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	180	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGCATGTGCTCACTCTGGTT	0.582																																						.											0													143	135	138					3																	50391044		2203	4300	6503	SO:0001583	missense	11068			AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"Cytochrome b genes"	30253	protein-coding gene	gene with protein product	"putative tumor suppressor 101F6"	607068	"cytochrome b-561 domain containing 2"			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.538T>C	3.37:g.50391044T>C	ENSP00000391209:p.Ser180Pro		A8K552	Missense_Mutation	SNP	ENST00000418577.1	37	CCDS2827.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691986	0.88735	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.68	5.68	0.88126	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (1);	0.057497	0.64402	D	0.000001	T	0.72301	0.3443	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77117	-0.2706	10	0.66056	D	0.02	.	15.6089	0.76699	0.0:0.0:0.0:1.0	.	180	O14569	C56D2_HUMAN	P	180	ENSP00000400454:S180P;ENSP00000410663:S180P;ENSP00000232508:S180P;ENSP00000391209:S180P	ENSP00000232508:S180P	S	+	1	0	CYB561D2	50366048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.179000	0.69175	0.459000	0.35465	TCA		0.582	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345973.1	NM_007022		C	50391044	T	C	50391044	3	2	31	1	0	0	0	0	1	0	0	0	4121	1551	54	2	548	2	CYB561D2	3	50391044	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	1228216	50391044	147631386	12	2265											
DNAH1	25981	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	52365211	52365211	+	Missense_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	acaaatggtgcgaggtcggcGtcctggactacgacgaggag	10	6	16	9	5	0	0	0	0	0	0	2	5	1	2	1	5	2	0	1	5	2	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:52365211G>A	ENST00000420323.2	+	7	1180	c.919G>A	c.(919-921)Gtc>Atc	p.V307I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	307	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGAGGTCGGCGTCCTGGACTA	0.577																																						.											0													56	59	58					3																	52365211		2039	4188	6227	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.919G>A	3.37:g.52365211G>A	ENSP00000401514:p.Val307Ile		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883725	0.51908	.	.	ENSG00000114841	ENST00000420323	T	0.25912	1.77	5.38	5.38	0.77491	.	0.000000	0.46145	D	0.000309	T	0.49355	0.1552	M	0.77820	2.39	0.50467	D	0.999876	P;D	0.64830	0.939;0.994	B;P	0.57009	0.292;0.811	T	0.51803	-0.8659	10	0.54805	T	0.06	.	19.1396	0.93443	0.0:0.0:1.0:0.0	.	307;307	C9JXH6;Q9P2D7-3	.;.	I	307	ENSP00000401514:V307I	ENSP00000401514:V307I	V	+	1	0	DNAH1	52340251	1.000000	0.71417	0.945000	0.38365	0.215000	0.24574	6.830000	0.75319	2.521000	0.84997	0.462000	0.41574	GTC		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52365211	G	A	52365211	3	1	31	1	0	0	0	0	1	0	0	0	4597	1145	40	1	941	1	DNAH1	3	52365211	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	1974167	52365211	145657219	13	2266											
DNAH12	201625	broad.mit.edu	37	chr3	57438684	57438684	+	Frame_Shift_Del	DEL	A	A	-																															atacgaactcgggcattctcAttttcccaataatatcggag																										TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:57438684delA	ENST00000351747.2	-	25	3783	c.3603delT	c.(3601-3603)aatfs	p.N1201fs		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1201	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(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GGGCATTCTCATTTTCCCAAT	0.368																																						.											0													83	83	83					3																	57438684		692	1591	2283	SO:0001589	frameshift_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.3603delT	3.37:g.57438684delA	ENSP00000295937:p.Asn1201fs		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	ENST00000351747.2	37																																																																																					0.368	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		-	57438684	A	-	57438684	7	5	31	1	0	1	0	1	0	0	0	0	4600	214	8	0	5815	0	DNAH12	3	57438684	Frame_Shift_Del	DEL	A	TCGA-KM-8476-01A-11D-2310-10	5073473	57438684	140583746	14	2267											
DCBLD2	131566	mdanderson.org	37	chr3	98620083	98620083	+	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	gagggagcgggagagggggaGcgcggcccaggcgggggcgg	6	0	27	8	5	0	1	0	0	0	1	0	5	0	3	1	9	2	0	1	9	0	0	rs190637453	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:98620083G>C	ENST00000326840.6	-	1	450	c.88C>G	c.(88-90)Ctc>Gtc	p.L30V	DCBLD2_ENST00000469648.1_5'Flank|CTD-2021J15.1_ENST00000474798.1_RNA|DCBLD2_ENST00000326857.9_Missense_Mutation_p.L30V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	30					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						gagagggggagcgcggcccag	0.731													G|||	24	0.00479233	0	0.0101	5008	,	,		10431	0		0.0139	False		,,,				2504	0.0031					.											0								G	VAL/LEU	8,3348		0,8,1670	8	9	9		88	0.5	1	3		9	71,7025		0,71,3477	no	missense	DCBLD2	NM_080927.3	32	0,79,5147	CC,CG,GG		1.0006,0.2384,0.7558	possibly-damaging	30/776	98620083	79,10373	1678	3548	5226	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.88C>G	3.37:g.98620083G>C	ENSP00000321573:p.Leu30Val		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	CCDS46878.1	18	0.008241758241758242	0	0.0	6	0.016574585635359115	0	0.0	12	0.0158311345646438	G	10.06	1.247539	0.22880	0.002384	0.010006	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.91124	-2.78;-2.79	2.37	0.476	0.16779	.	1.549460	0.04531	N	0.386306	T	0.70413	0.3221	N	0.14661	0.345	0.22280	N	0.999231	B;B	0.17465	0.022;0.013	B;B	0.12837	0.008;0.003	T	0.65459	-0.6163	10	0.44086	T	0.13	-0.8532	4.8872	0.13708	0.3129:0.0:0.6871:0.0	.	30;30	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	V	30	ENSP00000321573:L30V;ENSP00000321646:L30V	ENSP00000321573:L30V	L	-	1	0	DCBLD2	100102773	0.959000	0.32827	0.967000	0.41034	0.231000	0.25187	0.336000	0.19823	0.128000	0.18479	0.121000	0.15741	CTC		0.731	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		C	98620083	G	C	98620083	3	2	31	1	0	0	0	0	1	0	0	0	4281	971	34	5	2303	5	DCBLD2	3	98620083	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	41181399	98620083	99402347	15	2268											
ABTB1	80325	hgsc.bcm.edu	37	chr3	127396057	127396057	+	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	aaggtgctgaccatcgagccCccacctgcagacccccgcct	8	5	9	19	2	0	2	0	1	0	1	1	3	0	2	7	1	3	2	7	1	1	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:127396057C>T	ENST00000232744.8	+	8	776	c.690C>T	c.(688-690)ccC>ccT	p.P230P	ABTB1_ENST00000393363.3_Silent_p.P88P|ABTB1_ENST00000468137.1_Silent_p.P88P|ABTB1_ENST00000453791.2_Silent_p.P88P					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCATCGAGCCCCCACCTGCAG	0.682																																						.											0													32	29	30					3																	127396057		2200	4298	6498	SO:0001819	synonymous_variant	80325			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.690C>T	3.37:g.127396057C>T				Silent	SNP	ENST00000232744.8	37	CCDS3045.1																																																																																				0.682	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		T	127396057	C	T	127396057	2	4	31	1	0	0	0	0	0	0	0	1	102	610	22	3		3	ABTB1	3	127396057	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	28775974	127396057	70626373	16	2269											
TRPC1	7220	broad.mit.edu	37	chr3	142525034	142525034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaataagggatttacttgGctttcggacttctaaatatg	12	15	9	5	1	1	1	0	1	1	0	2	3	1	3	0	3	1	1	0	3	6	8			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:142525034G>T	ENST00000476941.1	+	13	2825	c.2339G>T	c.(2338-2340)gGc>gTc	p.G780V	TRPC1_ENST00000273482.6_Missense_Mutation_p.G746V	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	780					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GATTTACTTGGCTTTCGGACT	0.338																																						.											0													70	70	70					3																	142525034		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2339G>T	3.37:g.142525034G>T	ENSP00000419313:p.Gly780Val		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339985	0.81911	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79247	-0.93;-1.25	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.87341	0.6153	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.83275	0.996;0.899	D	0.87462	0.2408	10	0.62326	D	0.03	-19.8713	19.5907	0.95509	0.0:0.0:1.0:0.0	.	780;746	P48995;P48995-2	TRPC1_HUMAN;.	V	780;746	ENSP00000419313:G780V;ENSP00000273482:G746V	ENSP00000273482:G746V	G	+	2	0	TRPC1	144007724	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.455000	0.97625	2.642000	0.89623	0.563000	0.77884	GGC		0.338	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		T	142525034	G	T	142525034	3	4	31	1	0	0	0	0	1	0	0	0	16575	1203	42	5	2283	5	TRPC1	3	142525034	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	15128977	142525034	55497396	17	2270											
TP63	8626	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	189455532	189455532	+	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	atttttgtccttttaagtttCgtagaaaccccagctcattt	9	18	5	9	1	1	1	1	0	0	1	3	1	2	1	3	0	2	3	3	0	3	7			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr3:189455532C>A	ENST00000264731.3	+	2	155	c.66C>A	c.(64-66)ttC>ttA	p.F22L	TP63_ENST00000440651.2_Missense_Mutation_p.F22L|TP63_ENST00000392460.3_Missense_Mutation_p.F22L|TP63_ENST00000418709.2_Missense_Mutation_p.F22L|TP63_ENST00000320472.5_Missense_Mutation_p.F22L|TP63_ENST00000382063.4_Missense_Mutation_p.F22L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	22	Transcription activation.				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)		TTTTAAGTTTCGTAGAAACCC	0.348										HNSCC(45;0.13)																												.											0													70	74	73					3																	189455532		2203	4300	6503	SO:0001583	missense	8626			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.66C>A	3.37:g.189455532C>A	ENSP00000264731:p.Phe22Leu		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	16.47	3.133012	0.56828	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99557	-5.8;-6.11;-6.04;-6.03;-5.8;-6.16	5.67	-5.27	0.02763	.	0.063913	0.64402	D	0.000005	D	0.96423	0.8833	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21147	0.052;0.018;0.031;0.018	B;B;B;B	0.16722	0.016;0.016;0.005;0.016	T	0.82851	-0.0253	9	.	.	.	-5.9382	16.2055	0.82126	0.0:0.1538:0.0:0.8462	.	22;22;22;22	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	L	22	ENSP00000264731:F22L;ENSP00000407144:F22L;ENSP00000317510:F22L;ENSP00000376253:F22L;ENSP00000394337:F22L;ENSP00000371495:F22L	.	F	+	3	2	TP63	190938226	0.013000	0.17824	0.793000	0.32043	0.991000	0.79684	-1.643000	0.02004	-1.002000	0.03429	0.650000	0.86243	TTC		0.348	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		A	189455532	C	A	189455532	3	1	31	1	0	0	0	0	1	0	0	0	16389	883	31	5	72	5	TP63	3	189455532	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	46930498	189455532	8566898	18	2271											
GK2	2712	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	80327734	80327734	+	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	tcttgctccaattagcattaCcatgctactcactataaaaa	14	13	3	11	0	2	0	1	0	1	0	3	0	3	0	2	0	5	3	2	0	8	6			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr4:80327734C>T	ENST00000358842.3	-	1	1638	c.1621G>A	c.(1621-1623)Gta>Ata	p.V541I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	44					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						ATTAGCATTACCATGCTACTC	0.398																																						.											0													84	82	83					4																	80327734		2203	4300	6503	SO:0001583	missense	2712			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.1621G>A	4.37:g.80327734C>T	ENSP00000351706:p.Val541Ile		Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	2.028	-0.423139	0.04734	.	.	ENSG00000196475	ENST00000358842	T	0.14022	2.54	4.11	2.9	0.33743	.	0.620022	0.16540	N	0.210016	T	0.06188	0.0160	N	0.14661	0.345	0.22330	N	0.999192	B	0.02656	0.0	B	0.04013	0.001	T	0.41466	-0.9507	10	0.11485	T	0.65	-11.0196	4.7749	0.13175	0.0:0.3368:0.0:0.6632	.	541	Q14410	GLPK2_HUMAN	I	541	ENSP00000351706:V541I	ENSP00000351706:V541I	V	-	1	0	GK2	80546758	0.627000	0.27129	0.998000	0.56505	0.950000	0.60333	-0.533000	0.06157	0.881000	0.35993	0.585000	0.79938	GTA		0.398	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		T	80327734	C	T	80327734	3	4	31	1	0	0	0	0	1	0	0	0	6421	507	18	3	44	3	GK2	4	80327734	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		80327734	110826542	19	2272											
FNIP2	57600	broad.mit.edu;mdanderson.org	37	chr4	159780275	159780275	+	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	aatccagctatggttaggagGaagaaaattgccataagcat	16	9	10	6	0	0	1	0	0	0	1	1	3	1	3	2	3	3	3	2	3	7	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr4:159780275G>A	ENST00000264433.6	+	9	999	c.924G>A	c.(922-924)agG>agA	p.R308R	FNIP2_ENST00000379346.3_Silent_p.R331R	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	308					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGGTTAGGAGGAAGAAAATTG	0.398																																						.											0													79	78	78					4																	159780275		1845	4097	5942	SO:0001819	synonymous_variant	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.924G>A	4.37:g.159780275G>A			Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	CCDS47155.1																																																																																				0.398	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		A	159780275	G	A	159780275	2	1	31	1	0	0	0	0	0	0	0	1	5976	1165	41	3		3	FNIP2	4	159780275	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	79452541	159780275	31374001	20	2273											
FRG1	2483	mdanderson.org	37	chr4	190883004	190883004	+	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	tttcagagcttccaagaccaCaaacttaaaataagtaaaga	19	9	5	8	0	1	3	1	0	0	3	2	3	2	3	2	0	2	2	2	0	7	5			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr4:190883004C>A	ENST00000226798.4	+	8	879	c.657C>A	c.(655-657)caC>caA	p.H219Q		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	219					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCCAAGACCACAAACTTAAAA	0.289																																						.											0													66	82	77					4																	190883004		2129	4195	6324	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.657C>A	4.37:g.190883004C>A	ENSP00000226798:p.His219Gln		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	9.796	1.179300	0.21787	.	.	ENSG00000109536	ENST00000226798;ENST00000524583	T	0.28255	1.62	3.89	2.08	0.27032	.	0.353012	0.32884	N	0.005540	T	0.22781	0.0550	L	0.50333	1.59	0.27511	N	0.951693	B	0.25904	0.137	B	0.22880	0.042	T	0.22034	-1.0228	10	0.15952	T	0.53	-5.3563	8.561	0.33511	0.0:0.8087:0.0:0.1913	.	219	Q14331	FRG1_HUMAN	Q	219;91	ENSP00000226798:H219Q	ENSP00000226798:H219Q	H	+	3	2	FRG1	191119998	0.733000	0.28132	1.000000	0.80357	0.952000	0.60782	-0.200000	0.09478	0.227000	0.20999	0.479000	0.44913	CAC		0.289	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190883004	C	A	190883004	3	1	31	1	0	0	0	0	1	0	0	0	6046	477	17	5	687	5	FRG1	4	190883004	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	31102729	190883004	271272	21	2274											
PRDM9	56979	broad.mit.edu;mdanderson.org	37	chr5	23527628	23527628	+	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	atgtctgcagggagtgtgggCggggctttagcaataagtca	9	10	16	6	1	2	0	1	0	1	0	2	1	2	1	0	4	2	3	0	4	3	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:23527628C>T	ENST00000296682.3	+	11	2613	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	811					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.572										HNSCC(3;0.000094)																												.											0													40	50	46					5																	23527628		2149	4270	6419	SO:0001583	missense	56979			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.2431C>T	5.37:g.23527628C>T	ENSP00000296682:p.Arg811Trp		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	3.066	-0.192235	0.06259	.	.	ENSG00000164256	ENST00000296682	T	0.19806	2.12	3.02	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20373	0.0490	M	0.72576	2.205	0.20975	N	0.999817	B	0.22800	0.075	B	0.18561	0.022	T	0.26710	-1.0095	9	0.46703	T	0.11	.	3.8662	0.09018	0.4206:0.4551:0.0:0.1244	.	811	Q9NQV7	PRDM9_HUMAN	W	811	ENSP00000296682:R811W	ENSP00000296682:R811W	R	+	1	2	PRDM9	23563385	0.002000	0.14202	0.775000	0.31657	0.007000	0.05969	1.748000	0.38308	0.307000	0.22880	-0.575000	0.04146	CGG		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23527628	C	T	23527628	3	4	31	1	0	0	0	0	1	0	0	0	12463	759	27	1	2469	1	PRDM9	5	23527628	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		23527628	157387632	22	2275											
PCDHA8	56140	broad.mit.edu	37	chr5	140223107	140223107	+	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	cactgagggcgggtgccgggCgggcaagcccactctggtgt	5	6	18	12	3	1	1	0	1	1	0	1	1	1	1	2	5	2	1	2	5	1	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:140223107C>T	ENST00000531613.1	+	1	2201	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A734V|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	734					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGCCGGGCGGGCAAGCCC	0.662																																						.											0													49	49	49					5																	140223107		2196	4266	6462	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2201C>T	5.37:g.140223107C>T	ENSP00000434655:p.Ala734Val		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	5.825	0.336386	0.11013	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.11712	2.75;2.75	3.06	3.06	0.35304	.	0.235442	0.21287	U	0.077055	T	0.08223	0.0205	N	0.22421	0.69	0.23346	N	0.997868	B;B	0.13145	0.002;0.007	B;B	0.08055	0.001;0.003	T	0.25641	-1.0126	10	0.42905	T	0.14	.	13.3249	0.60454	0.0:1.0:0.0:0.0	.	734;734	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	734	ENSP00000434655:A734V;ENSP00000367363:A734V	ENSP00000367363:A734V	A	+	2	0	PCDHA8	140203291	0.355000	0.24921	0.151000	0.22473	0.037000	0.13140	2.945000	0.49043	1.692000	0.51112	0.460000	0.39030	GCG		0.662	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140223107	C	T	140223107	3	4	31	1	0	0	0	0	1	0	0	0	11530	768	27	1	2203	1	PCDHA8	5	140223107	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	116695479	140223107	40692153	23	2276											
SLC25A2	83884	broad.mit.edu	37	chr5	140683388	140683388	+	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	gctgtcccccctgcggccccCgctgtgaggtcgatggcggc	2	7	15	17	4	0	1	0	1	0	0	2	2	1	1	5	4	1	2	5	4	0	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:140683388C>T	ENST00000239451.4	-	1	224	c.45G>A	c.(43-45)gcG>gcA	p.A15A		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	15					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CTGCGGCCCCCGCTGTGAGGT	0.607																																						.											0													45	47	47					5																	140683388		2203	4300	6503	SO:0001819	synonymous_variant	83884			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.45G>A	5.37:g.140683388C>T			Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	CCDS4258.1																																																																																				0.607	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		T	140683388	C	T	140683388	2	4	31	1	0	0	0	0	0	0	0	1	14482	639	23	1		1	SLC25A2	5	140683388	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	460281	140683388	40231872	24	2277											
PCDH12	51294	broad.mit.edu;mdanderson.org	37	chr5	141335867	141335867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacctctgagcagtgAcctctcctgtgttggagtca	7	12	11	11	0	4	3	2	3	2	0	5	4	4	4	3	1	1	2	3	1	0	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:141335867A>G	ENST00000231484.3	-	1	2760	c.1550T>C	c.(1549-1551)gTc>gCc	p.V517A	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CTGAGCAGTGACCTCTCCTGT	0.517																																						.											0													90	87	88					5																	141335867		2203	4300	6503	SO:0001583	missense	51294			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.1550T>C	5.37:g.141335867A>G	ENSP00000231484:p.Val517Ala		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880823	0.72294	.	.	ENSG00000113555	ENST00000231484	T	0.67171	-0.25	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.194189	0.41823	D	0.000817	T	0.65995	0.2745	M	0.79123	2.44	0.45690	D	0.998607	P	0.43938	0.822	B	0.37550	0.253	T	0.73375	-0.4002	10	0.72032	D	0.01	.	12.9983	0.58660	1.0:0.0:0.0:0.0	.	517	Q9NPG4	PCD12_HUMAN	A	517	ENSP00000231484:V517A	ENSP00000231484:V517A	V	-	2	0	PCDH12	141316051	0.984000	0.35163	1.000000	0.80357	0.984000	0.73092	9.139000	0.94554	2.169000	0.68431	0.533000	0.62120	GTC		0.517	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		G	141335867	A	G	141335867	3	3	31	1	0	0	0	0	1	0	0	0	11510	275	10	2	2020	2	PCDH12	5	141335867	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	652479	141335867	39579393	25	2278											
GRIA1	2890	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	153065877	153065877	+	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	gtgattgaaatgaaacatgaCggcatccgaaaggtaaggtc	15	8	12	6	2	0	4	0	4	0	0	2	5	1	4	1	3	1	2	1	3	4	2	rs140876127		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:153065877C>T	ENST00000285900.5	+	8	1465	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	GRIA1_ENST00000518142.1_Silent_p.D294D|GRIA1_ENST00000340592.5_Silent_p.D374D|GRIA1_ENST00000521843.2_Silent_p.D305D|GRIA1_ENST00000448073.4_Silent_p.D384D|GRIA1_ENST00000518783.1_Silent_p.D384D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	374					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)	p.D374D(2)		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)	TGAAACATGACGGCATCCGAA	0.502													C|||	1	0.000199681	0	0	5008	,	,		17294	0.001		0	False		,,,				2504	0					.											2	Substitution - coding silent(2)	large_intestine(2)						C	,	0,4406		0,0,2203	116	104	108		1122,1122	-10.5	0.8	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	374/907,374/907	153065877	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2890				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.1122C>T	5.37:g.153065877C>T			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153065877	C	T	153065877	2	4	31	1	0	0	0	0	0	0	0	1	6767	535	19	1		1	GRIA1	5	153065877	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	11730010	153065877	27849383	26	2279											
FLT4	2324	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	180053237	180053237	+	Missense_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	cagggcatgtggactgtggcGcccggacagtgcctttccat	6	9	14	12	2	0	0	0	0	0	0	1	2	1	2	3	4	1	1	3	4	0	1	rs372947534		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr5:180053237G>A	ENST00000261937.6	-	9	1210	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C	FLT4_ENST00000393347.3_Missense_Mutation_p.R378C|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R378C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	378	Ig-like C2-type 4.		R -> C (in a renal clear cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.R378C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	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)	GGACTGTGGCGCCCGGACAGT	0.647																																					Colon(97;1075 1466 27033 27547 35871)	.											1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	94	99	98		1132,1132	4.5	1	5		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FLT4	NM_002020.4,NM_182925.4	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	378/1299,378/1364	180053237	1,13005	2203	4300	6503	SO:0001583	missense	2324			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.1132C>T	5.37:g.180053237G>A	ENSP00000261937:p.Arg378Cys		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251534	0.59212	0.0	1.16E-4	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.13307	2.6;2.6;2.6	4.5	4.5	0.54988	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36936	0.0985	M	0.84683	2.71	0.46874	D	0.999231	D;D;D	0.89917	1.0;0.997;0.998	D;P;P	0.71184	0.972;0.901;0.901	T	0.22173	-1.0224	9	0.72032	D	0.01	.	8.8586	0.35242	0.1038:0.0:0.8962:0.0	.	378;378;378	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	C	378;378;378;188	ENSP00000261937:R378C;ENSP00000377016:R378C;ENSP00000426057:R378C	ENSP00000261937:R378C	R	-	1	0	FLT4	179985843	0.049000	0.20398	0.995000	0.50966	0.593000	0.36681	1.754000	0.38369	2.236000	0.73375	0.561000	0.74099	CGC		0.647	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180053237	G	A	180053237	3	1	31	1	0	0	0	0	1	0	0	0	5944	1087	38	1	3055	1	FLT4	5	180053237	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	26987360	180053237	862023	27	2280											
HIVEP1	3096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	12162043	12162043	+	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	gtgctgcgagagatgaaaacGacacaattccgtctgtagac	13	8	11	9	3	1	3	0	1	1	2	2	6	2	3	1	0	3	2	1	0	4	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:12162043G>A	ENST00000379388.2	+	8	7191	c.6859G>A	c.(6859-6861)Gac>Aac	p.D2287N	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D152N	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2287					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)				AGATGAAAACGACACAATTCC	0.512																																						.											0													98	100	99					6																	12162043		2095	4234	6329	SO:0001583	missense	3096			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.6859G>A	6.37:g.12162043G>A	ENSP00000368698:p.Asp2287Asn		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777903	0.31502	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.31769	3.0;1.48	5.77	2.92	0.33932	.	1.573320	0.04254	N	0.339229	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B	0.25850	0.136	B	0.18871	0.023	T	0.31696	-0.9934	10	0.29301	T	0.29	-0.2298	10.3306	0.43820	0.0695:0.3587:0.5718:0.0	.	2287	P15822	ZEP1_HUMAN	N	2287;214;152;269	ENSP00000368698:D2287N;ENSP00000445617:D152N	ENSP00000368698:D2287N	D	+	1	0	HIVEP1	12270029	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	1.237000	0.32695	0.310000	0.22990	0.655000	0.94253	GAC		0.512	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12162043	G	A	12162043	3	1	31	1	0	0	0	0	1	0	0	0	7186	1058	37	1	6885	1	HIVEP1	6	12162043	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10		12162043	158953024	28	2281											
MUC21	394263	mdanderson.org	37	chr6	30955158	30955158	+	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	agcacgacctccagtggggcCagcacagccaccaactctga	11	4	10	16	1	1	1	0	1	1	0	2	2	2	1	5	2	4	2	5	2	1	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:30955158C>T	ENST00000376296.3	+	2	1447	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	402	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						CCAGTGGGGCCAGCACAGCCA	0.627																																						.											0													140	138	138					6																	30955158		2203	4300	6503	SO:0001819	synonymous_variant	394263			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.1206C>T	6.37:g.30955158C>T			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		T	30955158	C	T	30955158	2	4	31	1	0	0	0	0	0	0	0	1	9977	581	21	4		4	MUC21	6	30955158	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	18793115	30955158	140159909	29	2282											
SYNGAP1	8831	ucsc.edu	37	chr6	33400504	33400504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaagctccatcaaacgaAcgaagtcacaacccaaactt	19	6	4	12	2	2	0	2	0	0	0	3	2	3	0	2	0	5	1	2	0	8	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:33400504A>G	ENST00000418600.2	+	5	531	c.430A>G	c.(430-432)Acg>Gcg	p.T144A	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.T85A|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T144A|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	144					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						CATCAAACGAACGAAGTCACA	0.582																																						.											0													75	64	67					6																	33400504		2203	4300	6503	SO:0001583	missense	8831			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.430A>G	6.37:g.33400504A>G	ENSP00000403636:p.Thr144Ala		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065748	0.36470	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.19938	2.11;2.21;2.3	4.36	4.36	0.52297	Pleckstrin homology domain (1);	0.117466	0.64402	N	0.000019	T	0.07324	0.0185	N	0.26130	0.795	0.44976	D	0.997994	B;B;B	0.14438	0.0;0.0;0.01	B;B;B	0.15870	0.001;0.001;0.014	T	0.06899	-1.0801	10	0.51188	T	0.08	.	11.5483	0.50706	1.0:0.0:0.0:0.0	.	144;144;144	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	A	144;144;144;85	ENSP00000293748:T144A;ENSP00000403636:T144A;ENSP00000412475:T85A	ENSP00000293748:T144A	T	+	1	0	SYNGAP1	33508482	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.143000	0.64826	1.840000	0.53500	0.383000	0.25322	ACG		0.582	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		G	33400504	A	G	33400504	3	3	31	1	0	0	0	0	1	0	0	0	15444	43	2	2	448	2	SYNGAP1	6	33400504	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	2445346	33400504	137714563	30	2283											
GRM1	2911	broad.mit.edu;ucsc.edu	37	chr6	146720023	146720023	+	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	gtcaccctaatctttgtactGtaccgggacacaccagtggt	9	11	9	12	1	2	0	1	0	1	0	2	1	2	1	3	2	2	2	3	2	3	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:146720023G>T	ENST00000282753.1	+	7	2083	c.1848G>T	c.(1846-1848)ctG>ctT	p.L616L	GRM1_ENST00000492807.2_Silent_p.L616L|GRM1_ENST00000355289.4_Silent_p.L616L|GRM1_ENST00000507907.1_Silent_p.L616L|GRM1_ENST00000392299.2_Silent_p.L616L|GRM1_ENST00000361719.2_Silent_p.L616L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	616					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)		TCTTTGTACTGTACCGGGACA	0.483																																						.											0													264	221	236					6																	146720023		2203	4300	6503	SO:0001819	synonymous_variant	2911			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.1848G>T	6.37:g.146720023G>T			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.483	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146720023	G	T	146720023	2	4	31	1	0	0	0	0	0	0	0	1	6796	1364	48	5		5	GRM1	6	146720023	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	113319519	146720023	24395044	31	2284											
PLG	5340	bcgsc.ca	37	chr6	161143514	161143514	+	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	gctaccgaggcacatcctccAccaccaccacaggaaagaag	14	3	8	16	1	0	1	0	0	0	1	2	3	2	2	6	2	1	2	6	2	3	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:161143514A>T	ENST00000308192.9	+	10	1234	c.1171A>T	c.(1171-1173)Acc>Tcc	p.T391S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	391	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACATCCTCCACCACCACCAC	0.483																																						.											0													138	124	128					6																	161143514		2203	4300	6503	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1171A>T	6.37:g.161143514A>T	ENSP00000308938:p.Thr391Ser		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999575	0.54147	.	.	ENSG00000122194	ENST00000308192	T	0.63744	-0.06	5.18	5.18	0.71444	Kringle (5);Kringle-like fold (1);	0.641780	0.12774	U	0.440292	T	0.65698	0.2716	M	0.81341	2.54	0.23113	N	0.99828	P	0.37015	0.578	P	0.51297	0.665	T	0.64525	-0.6387	10	0.62326	D	0.03	.	10.6335	0.45551	0.8391:0.1609:0.0:0.0	.	391	P00747	PLMN_HUMAN	S	391	ENSP00000308938:T391S	ENSP00000308938:T391S	T	+	1	0	PLG	161063504	0.981000	0.34729	0.394000	0.26270	0.502000	0.33828	2.748000	0.47483	1.952000	0.56665	0.383000	0.25322	ACC		0.483	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161143514	A	T	161143514	3	4	31	1	0	0	0	0	1	0	0	0	12086	159	6	5	1213	5	PLG	6	161143514	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	14423491	161143514	9971553	32	2285											
SFT2D1	113402	broad.mit.edu	37	chr6	166736357	166736357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttaccttgcatatgggAtgtacgacaggctatacctg	11	11	10	9	1	0	0	0	0	0	0	0	2	0	1	2	2	5	4	2	2	6	6			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr6:166736357A>G	ENST00000361731.3	-	7	537	c.428T>C	c.(427-429)aTc>aCc	p.I143T	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1			SFT2 domain containing 1											NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		TGCATATGGGATGTACGACAG	0.318																																						.											0													130	124	126					6																	166736357		2203	4300	6503	SO:0001583	missense	113402			AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 83"	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.428T>C	6.37:g.166736357A>G	ENSP00000354590:p.Ile143Thr			Missense_Mutation	SNP	ENST00000361731.3	37	CCDS5292.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623451	0.46840	.	.	ENSG00000198818	ENST00000361731	T	0.51071	0.72	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	H	0.97682	4.055	0.80722	D	1	B	0.31752	0.338	B	0.37015	0.239	T	0.70378	-0.4888	10	0.87932	D	0	-24.6251	12.8362	0.57775	1.0:0.0:0.0:0.0	.	143	Q8WV19	SFT2A_HUMAN	T	143	ENSP00000354590:I143T	ENSP00000354590:I143T	I	-	2	0	SFT2D1	166656347	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.854000	0.69503	1.964000	0.57103	0.443000	0.29094	ATC		0.318	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169		G	166736357	A	G	166736357	3	3	31	1	0	0	0	0	1	0	0	0	14185	333	12	4	59	4	SFT2D1	6	166736357	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	5592843	166736357	4378710	33	2286											
MUC17	140453	mdanderson.org	37	chr7	100680472	100680472	+	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	tcaactcctagggaaggaagGcctccattaacaagtatacc	14	8	8	11	0	1	0	1	0	0	0	3	2	3	2	4	3	3	1	4	3	8	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr7:100680472G>C	ENST00000306151.4	+	3	5839	c.5775G>C	c.(5773-5775)agG>agC	p.R1925S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1925	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)					GGGAAGGAAGGCCTCCATTAA	0.502																																						.											0													246	243	244					7																	100680472		2203	4300	6503	SO:0001583	missense	140453			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.5775G>C	7.37:g.100680472G>C	ENSP00000302716:p.Arg1925Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.151273	0.00325	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.579	-1.16	0.09678	.	.	.	.	.	T	0.00815	0.0027	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40683	-0.9550	9	0.02654	T	1	.	0.1144	0.00059	0.2275:0.1978:0.2306:0.3441	.	1925	Q685J3	MUC17_HUMAN	S	1925	ENSP00000302716:R1925S	ENSP00000302716:R1925S	R	+	3	2	MUC17	100467192	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	0.028000	0.13644	-2.485000	0.00520	-3.513000	0.00033	AGG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100680472	G	C	100680472	3	2	31	1	0	0	0	0	1	0	0	0	9974	1194	42	5	5785	5	MUC17	7	100680472	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10		100680472	58458191	34	2287											
PMPCB	9512	broad.mit.edu	37	chr7	102944340	102944340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacattgggagaagcagAgattgaacgtgagcgtggag	13	6	16	6	2	0	4	0	2	0	2	0	7	0	5	0	2	4	2	0	2	2	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr7:102944340A>G	ENST00000249269.4	+	5	547	c.509A>G	c.(508-510)gAg>gGg	p.E170G	PMPCB_ENST00000420236.2_Missense_Mutation_p.E65G|PMPCB_ENST00000428154.1_Missense_Mutation_p.E170G	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	170					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAGAAGCAGAGATTGAACGT	0.348																																						.											0													97	93	95					7																	102944340		2203	4300	6503	SO:0001583	missense	9512			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.509A>G	7.37:g.102944340A>G	ENSP00000249269:p.Glu170Gly		O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571301	0.86542	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.21191	2.02;2.02;2.02	5.2	5.2	0.72013	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.93328	3.405	0.80722	D	1	P;P;D;D;D;D;D	0.69078	0.613;0.952;0.986;0.986;0.986;0.986;0.997	P;P;P;P;P;P;P	0.62649	0.788;0.842;0.842;0.842;0.842;0.842;0.905	T	0.67669	-0.5611	10	0.59425	D	0.04	.	15.0883	0.72174	1.0:0.0:0.0:0.0	.	65;65;170;170;161;170;170	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	G	170;170;65	ENSP00000249269:E170G;ENSP00000390035:E170G;ENSP00000410393:E65G	ENSP00000249269:E170G	E	+	2	0	PMPCB	102731576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.959000	0.56917	0.528000	0.53228	GAG		0.348	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		G	102944340	A	G	102944340	3	3	31	1	0	0	0	0	1	0	0	0	12141	304	11	2	527	2	PMPCB	7	102944340	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	2263868	102944340	56194323	35	2288											
ABP1	26	broad.mit.edu;mdanderson.org	37	chr7	150555109	150555109	+	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	actcacttggtgcactaccgCgtagacctggatgtggcagg	8	9	13	11	2	1	1	1	0	0	1	1	2	1	2	2	4	2	3	2	4	2	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr7:150555109C>T	ENST00000493429.1	+	4	2135	c.1551C>T	c.(1549-1551)cgC>cgT	p.R517R	AOC1_ENST00000416793.2_Silent_p.R517R|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.R517R|AOC1_ENST00000467291.1_Silent_p.R517R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	517					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TGCACTACCGCGTAGACCTGG	0.567																																						.											0													53	59	57					7																	150555109		2162	4257	6419	SO:0001819	synonymous_variant	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1551C>T	7.37:g.150555109C>T			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	CCDS43679.1																																																																																				0.567	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		T	150555109	C	T	150555109	2	4	31	1	0	0	0	0	0	0	0	1	98	755	27	1		1	ABP1	7	150555109	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	47610769	150555109	8583554	36	2289											
DEFA1	1668	mdanderson.org	37	chr8	6873603	6873603	+	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	ctggtattctgcaatagcagTccatgtttttccttgagcct	7	16	8	10	0	1	1	0	1	1	0	3	1	3	1	3	1	3	4	3	1	3	6	rs145076681		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr8:6873603T>G	ENST00000327857.2	-	3	285	c.194A>C	c.(193-195)gAc>gCc	p.D65A	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1	P59666	DEF3_HUMAN	defensin, alpha 3, neutrophil-specific	65					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular estrogen receptor signaling pathway (GO:0030520)|killing of cells of other organism (GO:0031640)	azurophil granule lumen (GO:0035578)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.D65A(1)		endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		GCAATAGCAGTCCATGTTTTT	0.498																																						.											1	Substitution - Missense(1)	prostate(1)											156	118	130					8																	6873603		1957	4128	6085	SO:0001583	missense	1668			M23281	CCDS5962.1	8p23.1	2009-08-05			ENSG00000239839	ENSG00000239839		"Defensins, alpha"	2762	protein-coding gene	gene with protein product		604522		DEF3		8477861, 17214878, 15944200	Standard	NM_005217		Approved	HNP-3		P59666	OTTHUMG00000090381	ENST00000327857.2:c.194A>C	8.37:g.6873603T>G	ENSP00000328359:p.Asp65Ala		P11479|Q14125	Missense_Mutation	SNP	ENST00000327857.2	37	CCDS5962.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.042516	0.00402	.	.	ENSG00000239839	ENST00000327857	T	0.41400	1.0	1.01	-2.03	0.07365	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	7	0.08179	T	0.78	.	0.1742	0.00116	0.3008:0.2168:0.2655:0.217	.	65	P59666	DEF3_HUMAN	A	65	ENSP00000328359:D65A	ENSP00000328359:D65A	D	-	2	0	DEFA3	6861013	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.189000	0.09629	-1.937000	0.01047	-0.806000	0.03193	GAC		0.498	DEFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206753.2	NM_005217		G	6873603	T	G	6873603	3	3	31	1	0	0	0	0	1	0	0	0	4388	1667	58	5	680	5	DEFA1	8	6873603	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10		6873603	139490419	37	2290											
MFHAS1	9258	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	8748357	8748357	+	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	atccctctggaagaagacatTgaggatgtcgatgaggcggg	11	8	15	7	2	1	4	0	2	1	2	3	7	2	6	1	4	0	0	1	4	2	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr8:8748357T>A	ENST00000276282.6	-	1	2798	c.2212A>T	c.(2212-2214)Aat>Tat	p.N738Y		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	738										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)		AAGAAGACATTGAGGATGTCG	0.587																																					Melanoma(103;1201 2045 17515 28966)	.											0													71	67	68					8																	8748357		2203	4300	6503	SO:0001583	missense	9258			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.2212A>T	8.37:g.8748357T>A	ENSP00000276282:p.Asn738Tyr		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251286	0.59212	.	.	ENSG00000147324	ENST00000276282	T	0.36157	1.27	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	L	0.56769	1.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.57429	-0.7813	10	0.59425	D	0.04	.	13.6484	0.62297	0.0:0.0:0.0:1.0	.	738	Q9Y4C4	MFHA1_HUMAN	Y	738	ENSP00000276282:N738Y	ENSP00000276282:N738Y	N	-	1	0	MFHAS1	8785767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.008000	0.58898	0.533000	0.62120	AAT		0.587	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		A	8748357	T	A	8748357	3	1	31	1	0	0	0	0	1	0	0	0	9521	1812	63	5	958	5	MFHAS1	8	8748357	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	1874754	8748357	137615665	38	2291											
PABPC1	26986	broad.mit.edu	37	chr8	101724606	101724606	+	Missense_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	ttacctttgcactagtgattGtaccaaatggagaaaactct	13	13	7	8	0	1	2	0	1	1	1	1	3	1	2	2	1	4	2	2	1	6	5	rs202060459		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	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)	p.T319I(2)		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)			ACTAGTGATTGTACCAAATGG	0.284																																						.											2	Substitution - Missense(2)	kidney(1)|endometrium(1)											154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986			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.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	31	1	0	0	0	0	1	0	0	0	11363	1377	48	4	986	4	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	92976249	101724606	44639416	39	2292											
ADCY8	114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	131922101	131922101	+	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	caacatcgtgttttgtccttGaccgcacatacctgttgaca	9	13	7	12	2	0	2	0	2	0	0	2	2	1	2	3	0	2	3	3	0	2	5			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr8:131922101G>A	ENST00000286355.5	-	6	3585	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	ADCY8_ENST00000377928.3_Missense_Mutation_p.S498L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	498					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)			TTTTGTCCTTGACCGCACATA	0.448										HNSCC(32;0.087)																												.											0													169	129	143					8																	131922101		2203	4300	6503	SO:0001583	missense	114			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.1493C>T	8.37:g.131922101G>A	ENSP00000286355:p.Ser498Leu			Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318073	0.81469	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.80653	-1.4;-1.4;-1.4	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.120729	0.64402	D	0.000017	T	0.79540	0.4463	N	0.11789	0.175	0.36692	D	0.879639	P;D	0.54047	0.948;0.964	P;P	0.57204	0.682;0.815	D	0.84098	0.0394	10	0.54805	T	0.06	.	19.0419	0.93004	0.0:0.0:1.0:0.0	.	498;498	E7EVL1;P40145	.;ADCY8_HUMAN	L	498;498;113	ENSP00000286355:S498L;ENSP00000367161:S498L;ENSP00000428010:S113L	ENSP00000286355:S498L	S	-	2	0	ADCY8	131991283	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.658000	0.61497	2.758000	0.94735	0.561000	0.74099	TCA		0.448	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			A	131922101	G	A	131922101	3	1	31	1	0	0	0	0	1	0	0	0	300	1294	45	4	2314	4	ADCY8	8	131922101	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	30197495	131922101	14441921	40	2293											
CNTNAP3	79937	mdanderson.org	37	chr9	39103743	39103743	+	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	ccagagtggcgagcttaccaCgcagctcaatcctgatgaaa	12	7	10	12	2	1	3	1	2	0	1	2	4	2	3	3	1	3	3	3	1	3	1	rs7852039	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:39103743C>T	ENST00000297668.6	-	16	2607	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R844H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R757H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	845	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H (in dbSNP:rs7852039). {ECO:0000269|PubMed:11214970}.		cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAGCTTACCACGCAGCTCAAT	0.418													C|||	934	0.186502	0.062	0.1354	5008	,	,		15532	0.3036		0.2376	False		,,,				2504	0.2178					.											0								C	HIS/ARG	392,4014	190.5+/-216.4	24,344,1835	39	43	42		2534	-1.3	0	9	dbSNP_116	42	1860,6740	331.0+/-319.4	208,1444,2648	yes	missense	CNTNAP3	NM_033655.3	29	232,1788,4483	TT,TC,CC		21.6279,8.897,17.3151	benign	845/1289	39103743	2252,10754	2203	4300	6503	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2534G>A	9.37:g.39103743C>T	ENSP00000297668:p.Arg845His		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	439	0.20100732600732601	26	0.052845528455284556	58	0.16022099447513813	164	0.2867132867132867	191	0.2519788918205805	C	11.25	1.582659	0.28180	0.08897	0.216279	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.42513	0.97;0.97;0.97	3.23	-1.29	0.09288	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.00012	0.0000	L	0.42487	1.325	0.50813	P	1.0299999999996423E-4	B;B;B	0.27286	0.174;0.076;0.032	B;B;B	0.30179	0.048;0.112;0.032	T	0.37596	-0.9699	8	0.16896	T	0.51	.	3.4899	0.07634	0.195:0.2478:0.0:0.5572	rs7852039;rs7852039	845;844;845	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	H	845;844;757	ENSP00000297668:R845H;ENSP00000366884:R844H;ENSP00000350863:R757H	ENSP00000297668:R845H	R	-	2	0	CNTNAP3	39093743	0.000000	0.05858	0.008000	0.14137	0.241000	0.25554	-0.236000	0.09003	-0.130000	0.11599	0.485000	0.47835	CGT		0.418	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		T	39103743	C	T	39103743	3	4	31	1	0	0	0	0	1	0	0	0	3648	536	19	1	1368	1	CNTNAP3	9	39103743	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		39103743	102109688	41	2294											
PCSK5	5125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	78749078	78749078	+	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	tattgtcaggacttcccgtgCgggacatttgaacgctaatg	9	12	11	9	3	1	1	1	1	0	0	2	3	2	3	1	2	2	1	1	2	3	5			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:78749078C>T	ENST00000545128.1	+	10	1800	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V	PCSK5_ENST00000376752.4_Missense_Mutation_p.A421V|PCSK5_ENST00000376767.3_Missense_Mutation_p.A421V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	421	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACTTCCCGTGCGGGACATTTG	0.398																																						.											0													129	119	122					9																	78749078		2203	4299	6502	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1262C>T	9.37:g.78749078C>T	ENSP00000446280:p.Ala421Val		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579348	0.86645	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.65	5.65	0.86999	.	0.210963	0.49916	D	0.000139	T	0.81403	0.4815	N	0.25789	0.76	0.45704	D	0.998616	P;P	0.45957	0.599;0.869	B;B	0.41666	0.248;0.363	D	0.84046	0.0367	10	0.72032	D	0.01	-19.0199	14.869	0.70441	0.1436:0.8564:0.0:0.0	.	421;421	Q92824-2;B1AMG5	.;.	V	421;124;421;421;421;94	ENSP00000446280:A421V;ENSP00000365958:A421V;ENSP00000365943:A421V;ENSP00000411654:A94V	ENSP00000365943:A421V	A	+	2	0	PCSK5	77938898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.581000	0.67471	2.817000	0.96982	0.563000	0.77884	GCG		0.398	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	78749078	C	T	78749078	3	4	31	1	0	0	0	0	1	0	0	0	11603	768	27	1	1300	1	PCSK5	9	78749078	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	39645335	78749078	62464353	42	2295											
ODF2	4957	broad.mit.edu	37	chr9	131245156	131245156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctccttcaggaaatacAatgtgagaaggtagtgtgct	13	10	12	6	0	1	2	1	1	0	2	2	4	2	3	1	2	3	3	1	2	5	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:131245156A>G	ENST00000434106.3	+	10	1340	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	ODF2_ENST00000393533.2_Missense_Mutation_p.Q326R|ODF2_ENST00000372814.3_Missense_Mutation_p.Q370R|ODF2_ENST00000448249.3_Missense_Mutation_p.Q245R|ODF2_ENST00000604420.1_Missense_Mutation_p.Q326R|ODF2_ENST00000393527.3_Missense_Mutation_p.Q302R|ODF2_ENST00000444119.2_Missense_Mutation_p.Q302R|ODF2_ENST00000372807.5_Missense_Mutation_p.Q321R|ODF2_ENST00000351030.3_Missense_Mutation_p.Q321R|ODF2_ENST00000372791.3_Missense_Mutation_p.Q307R|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000546203.1_Missense_Mutation_p.Q307R	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	326					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						CAGGAAATACAATGTGAGAAG	0.522																																						.											0													77	80	79					9																	131245156		2203	4300	6503	SO:0001583	missense	4957			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.977A>G	9.37:g.131245156A>G	ENSP00000403453:p.Gln326Arg		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.043499	0.55003	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.87;1.01;1.01;1.01	5.66	5.66	0.87406	.	0.455332	0.26750	N	0.022693	T	0.39627	0.1085	L	0.46157	1.445	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.19706	0.038;0.003;0.038;0.003;0.035;0.035;0.003;0.038;0.012;0.006	B;B;B;B;B;B;B;B;B;B	0.19391	0.008;0.013;0.014;0.01;0.008;0.013;0.013;0.008;0.025;0.013	T	0.19614	-1.0300	10	0.51188	T	0.08	-16.8018	14.703	0.69168	1.0:0.0:0.0:0.0	.	307;321;245;260;326;370;321;307;326;302	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	R	326;370;321;326;302;245;307;307	ENSP00000377166:Q326R;ENSP00000361901:Q370R;ENSP00000342581:Q321R;ENSP00000361882:Q326R;ENSP00000307781:Q302R;ENSP00000396687:Q245R;ENSP00000437579:Q307R;ENSP00000361877:Q307R	ENSP00000307781:Q302R	Q	+	2	0	ODF2	130284977	0.998000	0.40836	0.964000	0.40570	0.995000	0.86356	6.107000	0.71517	2.153000	0.67306	0.459000	0.35465	CAA		0.522	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			G	131245156	A	G	131245156	3	3	31	1	0	0	0	0	1	0	0	0	10827	130	5	4	1066	4	ODF2	9	131245156	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	52496078	131245156	9968275	43	2296											
NUP188	23511	broad.mit.edu	37	chr9	131750367	131750367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagggccagctgctgatcaAgacagtgaaactggcattct	11	8	12	10	0	2	3	1	2	1	1	2	3	2	3	1	2	3	4	1	2	2	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:131750367A>G	ENST00000372577.2	+	24	2456	c.2435A>G	c.(2434-2436)aAg>aGg	p.K812R		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	812					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						CTGCTGATCAAGACAGTGAAA	0.502																																						.											0													187	169	175					9																	131750367		2203	4300	6503	SO:0001583	missense	23511			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.2435A>G	9.37:g.131750367A>G	ENSP00000361658:p.Lys812Arg		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732046	0.48939	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.64991	-0.13	5.87	5.87	0.94306	.	0.046254	0.85682	D	0.000000	T	0.46229	0.1382	N	0.08118	0	0.42132	D	0.991474	B;B	0.31125	0.02;0.309	B;B	0.35182	0.035;0.197	T	0.48375	-0.9041	10	0.32370	T	0.25	-4.2014	15.7569	0.78037	1.0:0.0:0.0:0.0	.	145;812	E9PET9;Q5SRE5	.;NU188_HUMAN	R	701;812	ENSP00000361658:K812R	ENSP00000349125:K701R	K	+	2	0	NUP188	130790188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.901000	0.75693	2.371000	0.80710	0.533000	0.62120	AAG		0.502	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			G	131750367	A	G	131750367	3	3	31	1	0	0	0	0	1	0	0	0	10758	72	3	2	2529	2	NUP188	9	131750367	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	505211	131750367	9463064	44	2297											
PPAPDC3	84814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	134165625	134165625	+	Missense_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	acccctccttcaagggcatcGccttcaactccctgctggcc	6	9	7	19	1	2	0	2	0	0	0	5	0	4	0	6	2	2	2	6	2	2	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr9:134165625G>A	ENST00000372264.3	+	1	545	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.A81T	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	81	interaction with MTOR. {ECO:0000250}.				negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CAAGGGCATCGCCTTCAACTC	0.657																																						.											0													77	73	75					9																	134165625		2203	4300	6503	SO:0001583	missense	84814			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.241G>A	9.37:g.134165625G>A	ENSP00000361338:p.Ala81Thr		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433692	0.96150	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	T;T	0.58506	1.31;0.33	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	L	0.55213	1.73	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.69997	-0.4993	10	0.39692	T	0.17	-31.0681	18.1257	0.89585	0.0:0.0:1.0:0.0	.	81	Q8NBV4	PPAC3_HUMAN	T	81	ENSP00000361338:A81T;ENSP00000361335:A81T	ENSP00000361335:A81T	A	+	1	0	PPAPDC3	133155446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.424000	0.97464	2.530000	0.85305	0.561000	0.74099	GCC		0.657	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		A	134165625	G	A	134165625	3	1	31	1	0	0	0	0	1	0	0	0	12296	1087	38	1	243	1	PPAPDC3	9	134165625	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	2415258	134165625	7047806	45	2298											
ZMYND11	10771	bcgsc.ca	37	chr10	283550	283550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatcttaataaaaaggggaAggacaataaacacccgatgt	19	7	9	6	1	1	1	0	0	1	1	1	4	1	3	1	3	1	0	1	3	8	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:283550A>G	ENST00000397962.3	+	6	970	c.542A>G	c.(541-543)aAg>aGg	p.K181R	ZMYND11_ENST00000509513.2_Missense_Mutation_p.K181R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.K87R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.K141R|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000535374.1_Missense_Mutation_p.K24R|ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000381604.4_Missense_Mutation_p.K141R|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000381607.4_Missense_Mutation_p.K87R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.K141R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K127R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.K164R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K181R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K181R			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	181	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAAAGGGGAAGGACAATAAA	0.408																																						.											0													103	99	101					10																	283550		2203	4300	6503	SO:0001583	missense	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.542A>G	10.37:g.283550A>G	ENSP00000381053:p.Lys181Arg		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	A	31	5.083659	0.94050	.	.	ENSG00000015171	ENST00000439456;ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000381604;ENST00000397955;ENST00000381584;ENST00000545619;ENST00000535374	T;T;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;2.18;2.18	5.4	5.4	0.78164	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	L	0.44542	1.39	.	.	.	D;D;P;D;D;P;P	0.63046	0.984;0.992;0.795;0.984;0.979;0.948;0.948	P;P;P;P;D;P;P	0.71414	0.743;0.872;0.636;0.743;0.973;0.584;0.482	T	0.13495	-1.0507	9	0.18710	T	0.47	-29.9056	15.7172	0.77677	1.0:0.0:0.0:0.0	.	141;181;127;181;127;127;127	Q15326;Q2LD45;B7Z2J6;Q2LD48;B0QZE2;Q2LD46;Q2LD47	ZMY11_HUMAN;.;.;.;.;.;.	R	127;181;141;141;181;181;127;87;141;196;164;87;24	ENSP00000381053:K181R;ENSP00000309992:K141R;ENSP00000371015:K141R;ENSP00000424205:K181R;ENSP00000371003:K181R;ENSP00000385484:K127R;ENSP00000371020:K87R;ENSP00000371017:K141R;ENSP00000370996:K164R;ENSP00000438461:K87R	ENSP00000309992:K141R	K	+	2	0	ZMYND11	273550	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.880000	0.92407	2.170000	0.68504	0.460000	0.39030	AAG		0.408	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		G	283550	A	G	283550	3	3	31	1	0	0	0	0	1	0	0	0	17703	72	3	2	560	2	ZMYND11	10	283550	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10		283550	135251197	46	2299											
CUL2	8453	ucsc.edu;bcgsc.ca	37	chr10	35333504	35333504	+	Missense_Mutation	SNP	T	T	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	tatttcttaccttttccataTactgtgagcagtttgattct	8	20	5	8	0	2	2	0	2	2	0	3	2	3	2	2	0	3	2	2	0	4	9			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:35333504T>C	ENST00000374748.1	-	9	1017	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	CUL2_ENST00000374742.1_Missense_Mutation_p.Y235C|CUL2_ENST00000374749.3_Missense_Mutation_p.Y235C|CUL2_ENST00000374751.3_Missense_Mutation_p.Y235C|CUL2_ENST00000537177.1_Missense_Mutation_p.Y254C|CUL2_ENST00000374746.1_Missense_Mutation_p.Y235C|CUL2_ENST00000602371.1_Missense_Mutation_p.Y178C			Q13617	CUL2_HUMAN	cullin 2	235					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						CTTTTCCATATACTGTGAGCA	0.299																																						.											0													61	66	64					10																	35333504		2201	4287	6488	SO:0001583	missense	8453			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.704A>G	10.37:g.35333504T>C	ENSP00000363880:p.Tyr235Cys		B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388686	0.82902	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	5.88	5.88	0.94601	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.88979	2.995	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	0.84297	0.0503	10	0.87932	D	0	-14.4811	16.2961	0.82769	0.0:0.0:0.0:1.0	.	235;254;235	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	C	235;235;235;235;178;235;254	ENSP00000363883:Y235C;ENSP00000363880:Y235C;ENSP00000363878:Y235C;ENSP00000363881:Y235C;ENSP00000363874:Y235C;ENSP00000444856:Y254C	ENSP00000363874:Y235C	Y	-	2	0	CUL2	35373510	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	2.250000	0.74265	0.454000	0.30748	TAT		0.299	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		C	35333504	T	C	35333504	3	2	31	1	0	0	0	0	1	0	0	0	4055	1406	49	4	1589	4	CUL2	10	35333504	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	35049954	35333504	100201243	47	2300											
ANK3	288	broad.mit.edu	37	chr10	61832802	61832802	+	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	tttgccatttttagggcgtgCctttttctctggggactgca	4	17	11	9	1	1	0	0	0	1	0	2	1	1	1	2	3	3	1	2	3	1	6			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:61832802C>T	ENST00000280772.2	-	37	8028	c.7837G>A	c.(7837-7839)Gca>Aca	p.A2613T	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2613					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						TTAGGGCGTGCCTTTTTCTCT	0.443																																						.											0																																										SO:0001583	missense	288			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.7837G>A	10.37:g.61832802C>T	ENSP00000280772:p.Ala2613Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828684	0.32329	.	.	ENSG00000151150	ENST00000280772	T	0.63255	-0.03	5.66	-1.93	0.07594	.	1.079830	0.07306	N	0.874907	T	0.40670	0.1126	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.19321	-1.0309	10	0.18710	T	0.47	.	8.9934	0.36037	0.1972:0.339:0.4638:0.0	.	2613	Q12955	ANK3_HUMAN	T	2613	ENSP00000280772:A2613T	ENSP00000280772:A2613T	A	-	1	0	ANK3	61502808	0.995000	0.38212	0.991000	0.47740	0.990000	0.78478	0.581000	0.23819	-0.208000	0.10171	0.462000	0.41574	GCA		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61832802	C	T	61832802	3	4	31	1	0	0	0	0	1	0	0	0	622	739	26	3	5637	3	ANK3	10	61832802	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	26499298	61832802	73701945	48	2301											
NRAP	4892	hgsc.bcm.edu;mdanderson.org	37	chr10	115381805	115381805	+	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	cattgggatttggtgtcctcGaatcccttcttgtactccag	6	15	9	11	1	1	0	0	0	1	0	5	2	4	1	3	2	1	1	3	2	2	5			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:115381805G>A	ENST00000359988.3	-	24	2836	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	NRAP_ENST00000360478.3_Silent_p.F829F|NRAP_ENST00000369360.3_Silent_p.F837F|NRAP_ENST00000369358.4_Silent_p.F872F	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)		TGGTGTCCTCGAATCCCTTCT	0.527																																						.											0													230	174	193					10																	115381805		2203	4300	6503	SO:0001819	synonymous_variant	4892				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.2592C>T	10.37:g.115381805G>A				Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																				0.527	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115381805	G	A	115381805	2	1	31	1	0	0	0	0	0	0	0	1	10638	1049	37	1		1	NRAP	10	115381805	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	53549003	115381805	20152942	49	2302											
TCERG1L	256536	broad.mit.edu	37	chr10	132932683	132932683	+	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	tcttggtcttccctgttgtcTtcagaactggacccatcgct	5	15	8	13	1	4	1	1	0	3	1	6	2	5	2	2	2	1	2	2	2	1	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:132932683T>C	ENST00000368642.4	-	8	1303	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	406										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)		CCCTGTTGTCTTCAGAACTGG	0.507																																						.											0													119	94	102					10																	132932683		2203	4299	6502	SO:0001819	synonymous_variant	256536			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.1218A>G	10.37:g.132932683T>C			Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	CCDS7662.2																																																																																				0.507	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		C	132932683	T	C	132932683	2	2	31	1	0	0	0	0	0	0	0	1	15683	1606	56	2		2	TCERG1L	10	132932683	Silent	SNP	T	TCGA-KM-8476-01A-11D-2310-10	17550878	132932683	2602064	50	2303											
FRG2B	441581	mdanderson.org	37	chr10	135439015	135439015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcccctatggtgggcaTcacaggtctcctggatttca	8	11	10	12	1	3	0	2	0	1	0	5	1	4	1	3	4	1	1	3	4	2	2	rs75470891		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr10:135439015T>C	ENST00000425520.1	-	4	477	c.425A>G	c.(424-426)gAt>gGt	p.D142G	FRG2B_ENST00000443774.1_Missense_Mutation_p.D143G	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	142						nucleus (GO:0005634)		p.D143G(1)|p.D142G(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		ATGGTGGGCATCACAGGTCTC	0.517																																						.											2	Substitution - Missense(2)	prostate(2)											94	106	102					10																	135439015		2200	4298	6498	SO:0001583	missense	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.425A>G	10.37:g.135439015T>C	ENSP00000401310:p.Asp142Gly		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	7.820	0.717602	0.15372	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.46063	0.88;0.88	.	.	.	.	2.387620	0.01707	N	0.027493	T	0.45115	0.1326	N	0.19112	0.55	0.80722	P	0.0	D	0.61697	0.99	D	0.66351	0.943	T	0.44967	-0.9293	7	0.25751	T	0.34	-0.0211	.	.	.	.	142	Q96QU4	FRG2B_HUMAN	G	143;142	ENSP00000408343:D143G;ENSP00000401310:D142G	ENSP00000401310:D142G	D	-	2	0	FRG2B	135289005	0.038000	0.19896	0.258000	0.24420	0.260000	0.26232	0.264000	0.18497	0.103000	0.17682	0.102000	0.15555	GAT		0.517	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		C	135439015	T	C	135439015	3	2	31	1	0	0	0	0	1	0	0	0	6047	1435	50	4	414	4	FRG2B	10	135439015	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	2506332	135439015	95732	51	2304											
SIRT3	23410	broad.mit.edu	37	chr11	224195	224195	+	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	atgtcgggcttcacaacgccGgtgcagaccgggcagcgggg	7	5	17	12	5	1	1	1	0	0	1	2	1	1	1	2	5	3	3	2	5	1	1	rs202035351	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:224195G>A	ENST00000382743.4	-	5	954	c.852C>T	c.(850-852)acC>acT	p.T284T	SIRT3_ENST00000528702.1_5'Flank|SIRT3_ENST00000529382.1_Silent_p.T142T|SIRT3_ENST00000525319.1_Silent_p.T203T|SIRT3_ENST00000524564.1_Silent_p.T220T|SIRT3_ENST00000532956.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	284	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		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;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TCACAACGCCGGTGCAGACCG	0.572													G|||	2	0.000399361	0	0	5008	,	,		17366	0.001		0	False		,,,				2504	0.001					.											0													61	55	57					11																	224195		2203	4300	6503	SO:0001819	synonymous_variant	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.852C>T	11.37:g.224195G>A			B7Z5U6|Q9Y6E8	Silent	SNP	ENST00000382743.4	37	CCDS7691.1																																																																																				0.572	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			A	224195	G	A	224195	2	1	31	1	0	0	0	0	0	0	0	1	14339	1103	39	1		1	SIRT3	11	224195	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10		224195	134782321	52	2305											
MUC2	4583	mdanderson.org	37	chr11	1093452	1093452	+	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	accacggtgaccccaaccccGacacccaccggcacacagac	12	1	7	21	3	0	2	0	1	0	1	0	3	0	2	7	2	1	1	7	2	1	0	rs34136803		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:1093452G>A	ENST00000441003.2	+	30	5298	c.5271G>A	c.(5269-5271)ccG>ccA	p.P1757P	MUC2_ENST00000359061.5_Silent_p.P1724P|MUC2_ENST00000333592.6_Silent_p.P45P|MUC2_ENST00000361558.6_Intron	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.P1724P(1)|p.P1757P(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)	ccccaaccccgacacccaccg	0.617																																						.											2	Substitution - coding silent(2)	prostate(2)											107	134	125					11																	1093452		2040	4045	6085	SO:0001819	synonymous_variant	4583			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.5271G>A	11.37:g.1093452G>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093452	G	A	1093452	2	1	31	1	0	0	0	0	0	0	0	1	9975	1045	37	1		1	MUC2	11	1093452	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	869257	1093452	133913064	53	2306											
DNHD1	144132	bcgsc.ca	37	chr11	6591281	6591281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcagacccaagaccaGctgtgggcaagtcttagcaa	11	9	10	11	0	3	2	1	0	2	2	3	2	3	2	2	1	2	4	2	1	4	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:6591281G>T	ENST00000527990.2	+	38	12906	c.12906G>T	c.(12904-12906)caG>caT	p.Q4302H	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q4302H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4302					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)		CCCAAGACCAGCTGTGGGCAA	0.557																																						.											0													89	88	88					11																	6591281		1964	4165	6129	SO:0001583	missense	144132			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.12906G>T	11.37:g.6591281G>T	ENSP00000436180:p.Gln4302His		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	5.424	0.263402	0.10294	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.08634	3.07;3.07	4.69	3.77	0.43336	Dynein heavy chain (1);	0.425959	0.23362	N	0.049015	T	0.08447	0.0210	L	0.50919	1.6	0.25206	N	0.990016	B;B;B;B	0.14805	0.011;0.005;0.011;0.011	B;B;B;B	0.15052	0.008;0.002;0.008;0.012	T	0.31251	-0.9950	10	0.15952	T	0.53	-4.8843	10.8944	0.47015	0.0:0.1891:0.8109:0.0	.	3390;570;355;4302	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	H	4302;4302;570;570	ENSP00000254579:Q4302H;ENSP00000436180:Q4302H	ENSP00000254579:Q4302H	Q	+	3	2	DNHD1	6547857	0.923000	0.31300	0.967000	0.41034	0.346000	0.29079	1.124000	0.31320	1.192000	0.43071	0.655000	0.94253	CAG		0.557	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6591281	G	T	6591281	3	4	31	1	0	0	0	0	1	0	0	0	4668	962	34	5	13065	5	DNHD1	11	6591281	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	5497829	6591281	128415235	54	2307											
MICALCL	84953	mdanderson.org	37	chr11	12316389	12316389	+	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	ctcctcctcctcctcctcctAcagcgggaggtgcaggtaag	6	9	10	16	1	0	0	0	0	0	0	6	1	6	1	6	3	3	2	6	3	2	2	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:12316389A>C	ENST00000256186.2	+	3	1702	c.1411A>C	c.(1411-1413)Aca>Cca	p.T471P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	471			T -> P (in dbSNP:rs3812754).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		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)		tcctcctcctACAGCGGGAGG	0.572													A|||	1475	0.294529	0.1331	0.3386	5008	,	,		4509	0.1815		0.5537	False		,,,				2504	0.3313					.											2	Deletion - In frame(2)	upper_aerodigestive_tract(1)|skin(1)						A	PRO/THR	721,2429		137,447,991	4	4	4		1411	-0.8	0	11	dbSNP_107	4	3523,3545		1029,1465,1040	yes	missense	MICALCL	NM_032867.2	38	1166,1912,2031	CC,CA,AA		49.8444,22.8889,41.5345	benign	471/696	12316389	4244,5974	1575	3534	5109	SO:0001583	missense	84953			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.1411A>C	11.37:g.12316389A>C	ENSP00000256186:p.Thr471Pro		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	766	0.3507326007326007	103	0.20934959349593496	147	0.40607734806629836	106	0.1853146853146853	410	0.5408970976253298	A	0.021	-1.425527	0.01126	0.228889	0.498444	ENSG00000133808	ENST00000256186	T	0.13307	2.6	0.418	-0.835	0.10775	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P	0.38110	0.618	B	0.25759	0.063	T	0.38045	-0.9679	7	0.23302	T	0.38	.	.	.	.	rs3812754	471	Q6ZW33	MICLK_HUMAN	P	471	ENSP00000256186:T471P	ENSP00000256186:T471P	T	+	1	0	MICALCL	12272965	0.001000	0.12720	0.028000	0.17463	0.023000	0.10783	-0.872000	0.04219	-0.631000	0.05560	-0.661000	0.03856	ACA		0.572	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		C	12316389	A	C	12316389	3	2	31	1	0	0	0	0	1	0	0	0	9572	391	14	5	1417	5	MICALCL	11	12316389	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	5725108	12316389	122690127	55	2308											
SLC43A1	8501	broad.mit.edu	37	chr11	57268329	57268329	+	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	gaatatcaacggagacagagCtggaaaggggaaagcagcag	17	3	15	6	1	1	2	1	0	0	2	1	6	1	4	0	4	4	3	0	4	5	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:57268329C>T	ENST00000278426.3	-	5	744		c.e5-1		SLC43A1_ENST00000528450.1_Splice_Site|SLC43A1_ENST00000533515.1_5'Flank	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						GGAGACAGAGCTGGAAAGGGG	0.562																																						.											0													104	106	105					11																	57268329		2201	4296	6497	SO:0001630	splice_region_variant	8501			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.389-1G>A	11.37:g.57268329C>T				Splice_Site	SNP	ENST00000278426.3	37	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867231	0.51588	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764;ENST00000533066	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7628	0.78101	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57024905	1.000000	0.71417	0.969000	0.41365	0.446000	0.32137	6.810000	0.75216	2.445000	0.82738	0.655000	0.94253	.		0.562	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	T	57268329	C	T	57268329	5	4	31	1	0	0	0	0	0	0	1	0	14632	811	28	4	1335	4	SLC43A1	11	57268329	Splice_Site	SNP	C	TCGA-KM-8476-01A-11D-2310-10	44951940	57268329	77738187	56	2309											
ARHGEF17	9828	hgsc.bcm.edu	37	chr11	73073258	73073258	+	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	atcctctgcatcggggcggtGcccgggctgcagcctcgctg	3	8	15	15	4	1	0	0	0	1	0	4	0	2	0	3	4	4	4	3	4	0	0	rs148923147	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:73073258G>T	ENST00000263674.3	+	13	5018	c.4668G>T	c.(4666-4668)gtG>gtT	p.V1556V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1556					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						TCGGGGCGGTGCCCGGGCTGC	0.741													G|||	51	0.0101837	0.0023	0.0101	5008	,	,		11811	0		0.0129	False		,,,				2504	0.0286					.											0								G		8,4170		0,8,2081	9	9	9		4668	2	1	11	dbSNP_134	9	59,8021		1,57,3982	no	coding-synonymous	ARHGEF17	NM_014786.3		1,65,6063	TT,TG,GG		0.7302,0.1915,0.5466		1556/2064	73073258	67,12191	2089	4040	6129	SO:0001819	synonymous_variant	9828			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.4668G>T	11.37:g.73073258G>T			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																				0.741	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73073258	G	T	73073258	2	4	31	1	0	0	0	0	0	0	0	1	900	1306	46	5		5	ARHGEF17	11	73073258	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	15804929	73073258	61933258	57	2310											
INTS4	92105	mdanderson.org	37	chr11	77614592	77614592	+	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	ctgaataagcttacctgtttCgctgctgctgaggccaaatc	9	12	9	11	1	0	2	0	2	0	0	2	2	0	2	2	1	4	5	2	1	4	3	rs565544206	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:77614592C>T	ENST00000534064.1	-	17	2125	c.2091G>A	c.(2089-2091)gcG>gcA	p.A697A	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Silent_p.A72A	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	697					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A697A(1)	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)			TTACCTGTTTCGCTGCTGCTG	0.483													C|||	7	0.00139776	0.0045	0	5008	,	,		22683	0.001		0	False		,,,				2504	0					.											1	Substitution - coding silent(1)	prostate(1)											63	54	57					11																	77614592		2200	4292	6492	SO:0001819	synonymous_variant	92105			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.2091G>A	11.37:g.77614592C>T			Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																				0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		T	77614592	C	T	77614592	2	4	31	1	0	0	0	0	0	0	0	1	7780	871	31	1		1	INTS4	11	77614592	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	4541334	77614592	57391924	58	2311											
TRIM49	57093	mdanderson.org	37	chr11	89531533	89531533	+	Missense_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	acccaagaagaaagagtcccGcctttccatctatcttctca	12	10	5	14	1	3	3	1	0	3	3	6	3	5	3	4	0	0	0	4	0	4	3	rs146898780	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:89531533G>T	ENST00000329758.1	-	8	1452	c.1124C>A	c.(1123-1125)gCg>gAg	p.A375E	TRIM49_ENST00000532501.2_Missense_Mutation_p.A298E	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	375	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAAGAGTCCCGCCTTTCCATC	0.448													t|||	168	0.0335463	0.0507	0.0504	5008	,	,		18300	0.0446		0.0109	False		,,,				2504	0.0102					.											0													78	85	83					11																	89531533		2129	4278	6407	SO:0001583	missense	57093			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1124C>A	11.37:g.89531533G>T	ENSP00000327604:p.Ala375Glu		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.430515	0.00184	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.68331	-0.32	0.812	0.812	0.18744	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.24160	0.0585	N	0.00332	-1.63	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	8	.	.	.	.	3.6708	0.08273	0.0:0.0:0.4123:0.5877	.	375	P0CI25	TRI49_HUMAN	E	375;298	ENSP00000327604:A375E	.	A	-	2	0	TRIM49	89171181	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.249000	0.18216	-0.171000	0.10797	-1.228000	0.01579	GCG		0.448	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		T	89531533	G	T	89531533	3	4	31	1	0	0	0	0	1	0	0	0	16521	1087	38	5	238	5	TRIM49	11	89531533	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	11916941	89531533	45474983	59	2312											
PGR	5241	ucsc.edu	37	chr11	100999187	100999187	+	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	ggcttcactggggccccggaCcagtgagggctctcagaggc	6	6	16	13	1	2	2	2	1	1	1	3	3	2	3	3	6	0	2	3	6	0	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:100999187C>T	ENST00000325455.5	-	1	2068	c.615G>A	c.(613-615)tgG>tgA	p.W205*	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Nonsense_Mutation_p.W205*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	205	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)	p.W205C(1)		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)	GGGCCCCGGACCAGTGAGGGC	0.687																																					Pancreas(124;2271 2354 21954 22882)	.											1	Substitution - Missense(1)	lung(1)											7	9	9					11																	100999187		2081	4166	6247	SO:0001587	stop_gained	5241			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.615G>A	11.37:g.100999187C>T	ENSP00000325120:p.Trp205*		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	c	16.97	3.267528	0.59540	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	.	.	.	4.44	3.53	0.40419	.	0.717914	0.12600	N	0.454809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4107	0.21690	0.0:0.7115:0.1883:0.1003	.	.	.	.	X	205	.	ENSP00000263463:W205X	W	-	3	0	PGR	100504397	0.714000	0.27936	0.601000	0.28877	0.101000	0.19017	1.009000	0.29886	0.864000	0.35578	-0.217000	0.12591	TGG		0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			T	100999187	C	T	100999187	4	4	31	1	0	0	0	0	0	1	0	0	11805	508	18	3	2218	3	PGR	11	100999187	Nonsense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	11467654	100999187	34007329	60	2313											
CASP4	837	broad.mit.edu	37	chr11	104825546	104825546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgccatacgttgctTctcttgcatagagtctgcca	6	15	8	12	1	2	1	0	0	2	1	4	1	3	1	3	0	5	3	3	0	2	6			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:104825546T>C	ENST00000444739.2	-	2	1100	c.190A>G	c.(190-192)Aag>Gag	p.K64E	CASP4_ENST00000393150.3_Missense_Mutation_p.K8E|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	64	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATACGTTGCTTCTCTTGCATA	0.363																																						.											0													213	199	204					11																	104825546		2202	4299	6501	SO:0001583	missense	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.190A>G	11.37:g.104825546T>C	ENSP00000388566:p.Lys64Glu		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288516	0.40494	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000417440	T;T;T	0.29397	1.57;4.16;1.57	3.46	2.24	0.28232	DEATH-like (2);Caspase Recruitment (3);	0.171234	0.51477	D	0.000082	T	0.48132	0.1483	M	0.71871	2.18	0.09310	N	1	P;D;D	0.69078	0.943;0.997;0.975	P;D;D	0.71414	0.672;0.973;0.933	T	0.29427	-1.0012	10	0.72032	D	0.01	.	7.8029	0.29185	0.0:0.0:0.2125:0.7875	.	64;64;64	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	E	64;8;64	ENSP00000388566:K64E;ENSP00000376857:K8E;ENSP00000401673:K64E	ENSP00000376857:K8E	K	-	1	0	CASP4	104330756	0.040000	0.19996	0.001000	0.08648	0.002000	0.02628	1.676000	0.37565	0.457000	0.26962	0.459000	0.35465	AAG		0.363	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		C	104825546	T	C	104825546	3	2	31	1	0	0	0	0	1	0	0	0	2673	1792	62	4	971	4	CASP4	11	104825546	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	3826359	104825546	30180970	61	2314											
HSPA8	3312	mdanderson.org	37	chr11	122931403	122931403	+	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	tctcccttgtattctacttgGaccttgggcctgccagcatc	5	14	8	14	0	2	0	0	0	2	0	4	1	2	1	4	2	3	2	4	2	2	6			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr11:122931403G>A	ENST00000532636.1	-	3	428	c.309C>T	c.(307-309)gtC>gtT	p.V103V	HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000453788.2_Silent_p.V103V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Silent_p.V103V|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Silent_p.V103V|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Silent_p.V103V|HSPA8_ENST00000534319.1_5'Flank			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	103					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATTCTACTTGGACCTTGGGCC	0.463																																					Colon(21;486 594 5900 6733 14272)	.											0													85	84	84					11																	122931403		2202	4299	6501	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.309C>T	11.37:g.122931403G>A			Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																				0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			A	122931403	G	A	122931403	2	1	31	1	0	0	0	0	0	0	0	1	7416	1161	41	3		3	HSPA8	11	122931403	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	18105857	122931403	12075113	62	2315											
GALNT8	26290	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	4854614	4854614	+	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	gggcagagccaatcttggctCggattcaggaggaccgcact	9	7	14	11	2	2	1	1	0	1	1	3	4	2	4	2	5	1	3	2	5	1	2	rs202166380	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:4854614C>T	ENST00000252318.2	+	5	1217	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	294	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)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AATCTTGGCTCGGATTCAGGA	0.483													C|||	3	0.000599042	8e-04	0	5008	,	,		23971	0.001		0	False		,,,				2504	0.001				Colon(108;631 1558 7270 20097 39846)	.											0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	113	92	99		880	-1.5	0.9	12		99	0,8600		0,0,4300	no	missense	GALNT8	NM_017417.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	294/638	4854614	1,13005	2203	4300	6503	SO:0001583	missense	26290			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.880C>T	12.37:g.4854614C>T	ENSP00000252318:p.Arg294Trp		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	CCDS8533.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.19	3.326160	0.60743	2.27E-4	0.0	ENSG00000130035	ENST00000252318	T	0.62105	0.05	4.11	-1.5	0.08691	Glycosyl transferase, family 2 (1);	0.081559	0.48767	N	0.000161	T	0.71459	0.3342	M	0.83953	2.67	0.26121	N	0.980544	D	0.89917	1.0	D	0.85130	0.997	T	0.62704	-0.6798	10	0.87932	D	0	.	1.1486	0.01781	0.425:0.2546:0.1392:0.1812	.	294	Q9NY28	GALT8_HUMAN	W	294	ENSP00000252318:R294W	ENSP00000252318:R294W	R	+	1	2	GALNT8	4724875	0.027000	0.19231	0.903000	0.35520	0.955000	0.61496	-0.254000	0.08781	-0.573000	0.05998	0.491000	0.48974	CGG		0.483	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		T	4854614	C	T	4854614	3	4	31	1	0	0	0	0	1	0	0	0	6219	875	31	1	898	1	GALNT8	12	4854614	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		4854614	128997281	63	2316											
PRB2	653247	mdanderson.org	37	chr12	11546262	11546262	+	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	gggggaccttggggctggttGcctccttgtgggggtggtcc	1	11	20	9	0	0	0	0	0	0	0	2	1	2	1	4	8	1	2	4	8	0	3	rs199808121	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:11546262G>A	ENST00000389362.4	-	3	785	c.750C>T	c.(748-750)ggC>ggT	p.G250G	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	250	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)			GGGGCTGGTTGCCTCCTTGTG	0.607																																						.											0													111	144	133					12																	11546262		2188	4276	6464	SO:0001819	synonymous_variant	653247			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.750C>T	12.37:g.11546262G>A			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		A	11546262	G	A	11546262	2	1	31	1	0	0	0	0	0	0	0	1	12443	1306	46	4		4	PRB2	12	11546262	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	6691648	11546262	122305633	64	2317											
EIF4B	1975	broad.mit.edu	37	chr12	53416356	53416356	+	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	gactggagggctcgtcctgcTacagacagctttgatgacta	9	10	12	10	1	0	3	0	2	0	1	2	5	1	4	1	2	3	3	1	2	2	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:53416356T>C	ENST00000262056.9	+	6	938	c.612T>C	c.(610-612)gcT>gcC	p.A204A	EIF4B_ENST00000416762.3_Silent_p.A165A|EIF4B_ENST00000420463.3_Silent_p.A204A|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	204	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						CTCGTCCTGCTACAGACAGCT	0.433																																						.											0													105	90	94					12																	53416356		1879	4110	5989	SO:0001819	synonymous_variant	1975			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.612T>C	12.37:g.53416356T>C			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP	ENST00000262056.9	37	CCDS41788.1																																																																																				0.433	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		C	53416356	T	C	53416356	2	2	31	1	0	0	0	0	0	0	0	1	5027	1509	53	2		2	EIF4B	12	53416356	Silent	SNP	T	TCGA-KM-8476-01A-11D-2310-10	41870094	53416356	80435539	65	2318											
OR6C74	254783	mdanderson.org	37	chr12	55641157	55641157	+	Missense_Mutation	SNP	T	T	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	ggtgattatttttcttctccTttttttcacctacatgttga	6	22	5	8	0	3	2	1	2	2	0	4	2	3	2	2	1	1	1	2	1	2	9			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:55641157T>C	ENST00000343870.4	+	1	176	c.86T>C	c.(85-87)cTt>cCt	p.L29P		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTCTTCTCCTTTTTTTCACC	0.378																																						.											0													183	177	179					12																	55641157		2203	4300	6503	SO:0001583	missense	254783				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.86T>C	12.37:g.55641157T>C	ENSP00000342836:p.Leu29Pro			Missense_Mutation	SNP	ENST00000343870.4	37	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	t	12.35	1.911727	0.33721	.	.	ENSG00000197706	ENST00000343870	T	0.00580	6.43	4.83	4.83	0.62350	.	0.000000	0.43747	D	0.000537	T	0.03739	0.0106	M	0.90759	3.145	0.30755	N	0.744759	D	0.89917	1.0	D	0.79784	0.993	T	0.00763	-1.1576	10	0.72032	D	0.01	.	14.4929	0.67665	0.0:0.0:0.0:1.0	.	29	A6NCV1	O6C74_HUMAN	P	29	ENSP00000342836:L29P	ENSP00000342836:L29P	L	+	2	0	OR6C74	53927424	0.629000	0.27146	0.074000	0.20217	0.175000	0.22909	5.237000	0.65360	2.139000	0.66308	0.450000	0.29827	CTT		0.378	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			C	55641157	T	C	55641157	3	2	31	1	0	0	0	0	1	0	0	0	11198	1609	56	2	88	2	OR6C74	12	55641157	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	2224801	55641157	78210738	66	2319											
ACACB	32	broad.mit.edu	37	chr12	109577282	109577282	+	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	tcctggttaaaaatctggggGaaaatgacggactccaagcc	13	8	11	9	1	1	1	0	1	1	0	3	3	3	3	3	4	1	1	3	4	6	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:109577282G>A	ENST00000338432.7	+	2	191	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ACACB_ENST00000377848.3_Silent_p.G24G|ACACB_ENST00000377854.5_Silent_p.G24G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	24					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)	AAATCTGGGGGAAAATGACGG	0.463																																						.											0													95	95	95					12																	109577282		2203	4300	6503	SO:0001819	synonymous_variant	32			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.72G>A	12.37:g.109577282G>A			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.463	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109577282	G	A	109577282	2	1	31	1	0	0	0	0	0	0	0	1	107	1161	41	3		3	ACACB	12	109577282	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	53936125	109577282	24274613	67	2320											
C12orf51	283450	ucsc.edu	37	chr12	112607414	112607414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacggcactgaggccagcTgcctggcagcctgacagaag	10	4	14	13	2	0	3	0	2	0	1	0	4	0	3	3	3	3	3	3	3	1	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:112607414T>C	ENST00000430131.2	-	69	11980	c.10835A>G	c.(10834-10836)cAg>cGg	p.Q3612R	HECTD4_ENST00000377560.5_Missense_Mutation_p.Q3862R|HECTD4_ENST00000550722.1_Missense_Mutation_p.Q3888R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3612					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)										TGAGGCCAGCTGCCTGGCAGC	0.597																																						.											0													46	52	50					12																	112607414		2047	4188	6235	SO:0001583	missense	283450			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.10835A>G	12.37:g.112607414T>C	ENSP00000404379:p.Gln3612Arg		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	T	27.5	4.835640	0.91117	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.50813	0.73;0.73;0.73	5.88	5.88	0.94601	.	.	.	.	.	T	0.52677	0.1749	N	0.19112	0.55	0.53005	D	0.999965	P	0.45126	0.851	P	0.58391	0.838	T	0.57585	-0.7786	9	0.72032	D	0.01	.	16.2794	0.82664	0.0:0.0:0.0:1.0	.	3612	Q9Y4D8	K0614_HUMAN	R	3862;3612;3888;77	ENSP00000366783:Q3862R;ENSP00000404379:Q3612R;ENSP00000449784:Q3888R	ENSP00000366783:Q3862R	Q	-	2	0	C12orf51	111091797	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.509000	0.81698	2.251000	0.74343	0.482000	0.46254	CAG		0.597	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112607414	T	C	112607414	3	2	31	1	0	0	0	0	1	0	0	0	1696	1580	55	2	1183	2	C12orf51	12	112607414	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	3030132	112607414	21244481	68	2321											
TMEM132B	114795	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	126137027	126137027	+	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	ctccatcctggctgagaagaCggtgattgtcctggatgacc	8	10	12	11	1	0	4	0	3	0	2	3	6	3	5	4	3	0	1	4	3	1	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr12:126137027C>T	ENST00000299308.3	+	8	1948	c.1940C>T	c.(1939-1941)aCg>aTg	p.T647M	TMEM132B_ENST00000535886.1_Missense_Mutation_p.T159M	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	647						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)		GCTGAGAAGACGGTGATTGTC	0.567																																						.											0													32	34	34					12																	126137027		2073	4228	6301	SO:0001583	missense	114795			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.1940C>T	12.37:g.126137027C>T	ENSP00000299308:p.Thr647Met		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988608	0.74589	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.54866	0.55;0.55	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	T	0.69260	0.3091	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.69146	-0.5222	10	0.49607	T	0.09	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	647	Q14DG7	T132B_HUMAN	M	647;159	ENSP00000299308:T647M;ENSP00000440436:T159M	ENSP00000299308:T647M	T	+	2	0	TMEM132B	124702980	1.000000	0.71417	0.947000	0.38551	0.510000	0.34073	4.569000	0.60865	2.471000	0.83476	0.655000	0.94253	ACG		0.567	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126137027	C	T	126137027	3	4	31	1	0	0	0	0	1	0	0	0	16043	536	19	1	1970	1	TMEM132B	12	126137027	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	13529613	126137027	7714868	69	2322											
HEATR5A	25938	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	31844040	31844040	+	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	accacacagtgcaccagctcGtccttccagggtcacctgcc	8	7	8	18	1	1	0	1	0	0	0	4	0	3	0	6	1	3	2	6	1	0	1	rs376522134		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr14:31844040G>A	ENST00000389961.3	-	11	1824	c.1825C>T	c.(1825-1827)Cga>Tga	p.R609*	HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.R609*|HEATR5A_ENST00000439727.1_Nonsense_Mutation_p.R322*|HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.R615*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.R615*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	609										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GCACCAGCTCGTCCTTCCAGG	0.443																																						.											0								G	stop/ARG	0,3952		0,0,1976	61	65	64		1843	2.8	1	14		64	1,8323		0,1,4161	no	stop-gained	HEATR5A	NM_015473.3		0,1,6137	AA,AG,GG		0.012,0.0,0.0081		615/2047	31844040	1,12275	1976	4162	6138	SO:0001587	stop_gained	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1825C>T	14.37:g.31844040G>A	ENSP00000374611:p.Arg609*		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	ENST00000389961.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.474218|7.474218	0.98306|0.98306	0.0|0.0	1.2E-4|1.2E-4	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	.|.	.|.	.|.	5.75|5.75	2.84|2.84	0.33178|0.33178	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.50137	.|0.1598	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58070	.|-0.7701	.|3	0.02654|.	T|.	1|.	.|.	8.9064|8.9064	0.35526|0.35526	0.131:0.0:0.7483:0.1206|0.131:0.0:0.7483:0.1206	.|.	.|.	.|.	.|.	X|M	609;609;322;615;615|257	.|.	ENSP00000374611:R609X|.	R|T	-|-	1|2	2|0	HEATR5A|HEATR5A	30913791|30913791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.887000|7.887000	0.87295|0.87295	0.734000|0.734000	0.32515|0.32515	0.650000|0.650000	0.86243|0.86243	CGA|ACG		0.443	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		A	31844040	G	A	31844040	4	1	31	1	0	0	0	0	0	1	0	0	7031	1153	40	1	4397	1	HEATR5A	14	31844040	Nonsense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10		31844040	75505500	70	2323											
C14orf73	91828	mdanderson.org	37	chr14	103568981	103568981	+	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	tatgcggcggccggcttcccAgcgtgggaggtctatctgcg	4	9	16	12	5	2	0	0	0	2	0	3	1	3	1	2	5	3	1	2	5	2	3	rs77071436	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr14:103568981A>C	ENST00000380069.3	+	2	997	c.921A>C	c.(919-921)ccA>ccC	p.P307P		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	307					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCGGCTTCCCAGCGTGGGAGG	0.706													A|||	1073	0.214257	0.1006	0.1931	5008	,	,		11366	0.2579		0.2396	False		,,,				2504	0.3119					.											0								A		378,3714		22,334,1690	6	9	8		921	-8.7	0	14	dbSNP_131	8	1547,6535		144,1259,2638	no	coding-synonymous	EXOC3L4	NM_001077594.1		166,1593,4328	CC,CA,AA		19.1413,9.2375,15.8124		307/723	103568981	1925,10249	2046	4041	6087	SO:0001819	synonymous_variant	91828			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.921A>C	14.37:g.103568981A>C			Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																				0.706	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		C	103568981	A	C	103568981	2	2	31	1	0	0	0	0	0	0	0	1	1779	175	7	5		5	C14orf73	14	103568981	Silent	SNP	A	TCGA-KM-8476-01A-11D-2310-10	71724941	103568981	3780559	71	2324											
AHNAK2	113146	mdanderson.org	37	chr14	105416223	105416223	+	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	atggaggggaggctcacttcGgcctccaccttcggcgcaga	7	7	14	13	3	1	1	1	0	0	1	4	3	2	3	3	6	0	2	3	6	0	2	rs141406015	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr14:105416223G>A	ENST00000333244.5	-	7	5684	c.5565C>T	c.(5563-5565)gcC>gcT	p.A1855A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1855						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)			GGCTCACTTCGGCCTCCACCT	0.617													.|||	198	0.0395367	0.0983	0.0101	5008	,	,		17388	0.0089		0.003	False		,,,				2504	0.0501					.											0													134	170	158					14																	105416223		1938	4106	6044	SO:0001819	synonymous_variant	113146			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.5565C>T	14.37:g.105416223G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105416223	G	A	105416223	2	1	31	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105416223	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	1847242	105416223	1933317	72	2325											
MYO5A	4644	broad.mit.edu;mdanderson.org	37	chr15	52613683	52613683	+	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	aggcagtgttcattctggcgAgatgtgttgtgcttcataaa	9	14	12	6	1	3	1	2	0	1	1	3	2	3	1	0	2	1	4	0	2	2	5	rs368705747		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr15:52613683A>G	ENST00000399231.3	-	37	4992	c.4749T>C	c.(4747-4749)tcT>tcC	p.S1583S	MYO5A_ENST00000356338.6_Silent_p.S1556S|MYO5A_ENST00000358212.6_Silent_p.S1608S|MYO5A_ENST00000553916.1_Silent_p.S1581S|MYO5A_ENST00000399233.2_Silent_p.S1580S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1583	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				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)		CATTCTGGCGAGATGTGTTGT	0.458																																						.											0								A	,	0,4092		0,0,2046	142	141	141		4749,4668	2.6	1	15		141	1,8413		0,1,4206	no	coding-synonymous,coding-synonymous	MYO5A	NM_000259.3,NM_001142495.1	,	0,1,6252	GG,GA,AA		0.0119,0.0,0.0080	,	1583/1856,1556/1829	52613683	1,12505	2046	4207	6253	SO:0001819	synonymous_variant	4644				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.4749T>C	15.37:g.52613683A>G			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																				0.458	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		G	52613683	A	G	52613683	2	3	31	1	0	0	0	0	0	0	0	1	10078	291	11	2		2	MYO5A	15	52613683	Silent	SNP	A	TCGA-KM-8476-01A-11D-2310-10		52613683	49917709	73	2326											
SLC24A1	9187	broad.mit.edu;mdanderson.org	37	chr15	65946296	65946296	+	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	gtttgtgatctcttcaattgCgtcatgtaaatggagaatga	11	15	10	5	1	3	3	2	2	1	1	4	4	3	3	0	1	1	2	0	1	4	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr15:65946296C>T	ENST00000261892.6	+	10	3466	c.3179C>T	c.(3178-3180)gCg>gTg	p.A1060V	SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A1030V|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A946V|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A1042V|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A1042V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1060					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A1060V(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTCAATTGCGTCATGTAAA	0.383																																						.											1	Substitution - Missense(1)	large_intestine(1)											288	268	274					15																	65946296		1952	4142	6094	SO:0001583	missense	9187			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.3179C>T	15.37:g.65946296C>T	ENSP00000261892:p.Ala1060Val		O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480885	0.84747	.	.	ENSG00000074621	ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.51	5.51	0.81932	Sodium/calcium exchanger membrane region (1);	0.115247	0.64402	D	0.000014	T	0.77883	0.4197	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.76494	0.999;0.985;0.973;0.999	D;D;D;D	0.79108	0.983;0.915;0.919;0.992	T	0.72956	-0.4134	10	0.16896	T	0.51	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	387;1042;1030;1060	B4DUG1;O60721-2;Q17RM9;O60721	.;.;.;NCKX1_HUMAN	V	1060;1042;946;1030;1042	ENSP00000261892:A1060V;ENSP00000341837:A1042V;ENSP00000445163:A946V;ENSP00000381991:A1030V;ENSP00000439190:A1042V	ENSP00000261892:A1060V	A	+	2	0	SLC24A1	63733350	1.000000	0.71417	0.210000	0.23637	0.748000	0.42578	7.818000	0.86416	2.572000	0.86782	0.585000	0.79938	GCG		0.383	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		T	65946296	C	T	65946296	3	4	31	1	0	0	0	0	1	0	0	0	14465	768	27	1	1319	1	SLC24A1	15	65946296	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	13332613	65946296	36585096	74	2327											
SH3GL3	6457	broad.mit.edu	37	chr15	84286962	84286962	+	Missense_Mutation	SNP	T	T	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	atcaaatagatgaaaactggTatgaaggaatgatacacgga	19	8	10	4	1	1	4	1	3	0	1	1	6	1	6	0	3	2	1	0	3	8	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr15:84286962T>C	ENST00000427482.2	+	9	1273	c.967T>C	c.(967-969)Tat>Cat	p.Y323H	SH3GL3_ENST00000535412.1_3'UTR|AC087738.1_ENST00000411248.1_RNA|SH3GL3_ENST00000434347.1_Missense_Mutation_p.Y331H|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000324537.5_Missense_Mutation_p.Y331H	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	323	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGAAAACTGGTATGAAGGAAT	0.398																																						.											0													116	106	110					15																	84286962		2203	4300	6503	SO:0001583	missense	6457			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.967T>C	15.37:g.84286962T>C	ENSP00000391372:p.Tyr323His		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609438	0.87258	.	.	ENSG00000140600	ENST00000427482;ENST00000324537;ENST00000434347	T;T;T	0.31769	1.48;1.48;1.48	5.54	5.54	0.83059	Src homology-3 domain (5);	0.181657	0.51477	D	0.000100	T	0.63070	0.2480	M	0.91354	3.2	0.80722	D	1	D;D	0.71674	0.998;0.978	D;P	0.69479	0.964;0.707	T	0.72747	-0.4200	10	0.87932	D	0	-17.6148	14.8615	0.70384	0.0:0.0:0.0:1.0	.	323;331	Q99963;Q99963-3	SH3G3_HUMAN;.	H	323;331;331	ENSP00000391372:Y323H;ENSP00000320092:Y331H;ENSP00000397871:Y331H	ENSP00000320092:Y331H	Y	+	1	0	SH3GL3	82077966	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.590000	0.82653	2.101000	0.63845	0.460000	0.39030	TAT		0.398	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		C	84286962	T	C	84286962	3	2	31	1	0	0	0	0	1	0	0	0	14252	1638	57	2	1001	2	SH3GL3	15	84286962	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	18340666	84286962	18244430	75	2328											
SOX8	30812	mdanderson.org	37	chr16	1034954	1034954	+	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	cccgagccgggccaggcctaTgggggcgcctacttccacgc	5	5	14	17	4	0	0	0	0	0	0	1	1	1	0	6	4	2	0	6	4	2	3	rs11542178	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:1034954T>C	ENST00000293894.3	+	3	1024	c.909T>C	c.(907-909)taT>taC	p.Y303Y		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	303					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)				GCCAGGCCTATGGGGGCGCCT	0.751													C|||	1718	0.343051	0.5772	0.2867	5008	,	,		9222	0.1052		0.3091	False		,,,				2504	0.3466					.											0								C		2425,1917		709,1007,455	9	11	11		909	-6.6	0	16	dbSNP_120	11	2368,6146		350,1668,2239	no	coding-synonymous	SOX8	NM_014587.3		1059,2675,2694	CC,CT,TT		27.813,44.1502,37.2822		303/447	1034954	4793,8063	2171	4257	6428	SO:0001819	synonymous_variant	30812			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.909T>C	16.37:g.1034954T>C			Q9NZW2	Silent	SNP	ENST00000293894.3	37	CCDS10428.1																																																																																				0.751	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			C	1034954	T	C	1034954	2	2	31	1	0	0	0	0	0	0	0	1	14957	1471	51	4		4	SOX8	16	1034954	Silent	SNP	T	TCGA-KM-8476-01A-11D-2310-10		1034954	89319799	76	2329											
XYLT1	64131	hgsc.bcm.edu	37	chr16	17202636	17202636	+	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	ctccaggccgtctggctgcaGgtctgcatgaccgggcaggc	5	7	15	14	2	2	1	0	1	2	0	3	1	3	1	3	5	2	4	3	5	0	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:17202636G>A	ENST00000261381.6	-	12	2880	c.2796C>T	c.(2794-2796)acC>acT	p.T932T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	932					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						TCTGGCTGCAGGTCTGCATGA	0.667																																						.											0													34	30	31					16																	17202636		2197	4300	6497	SO:0001819	synonymous_variant	64131			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.2796C>T	16.37:g.17202636G>A			Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																				0.667	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17202636	G	A	17202636	2	1	31	1	0	0	0	0	0	0	0	1	17460	987	35	4		4	XYLT1	16	17202636	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	16167682	17202636	73152117	77	2330											
IL4R	3566	broad.mit.edu	37	chr16	27374339	27374339	+	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	cctgggagcagatcctccgcCgaaatgtcctccagcatggg	8	7	12	14	2	0	1	0	0	0	1	4	3	4	2	6	2	2	2	6	2	1	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:27374339C>T	ENST00000395762.2	+	11	1925	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*	IL4R_ENST00000380922.3_Nonsense_Mutation_p.R541*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R556*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R556*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	556	Required for IRS1 activation and IL4- induced cell growth.				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						GATCCTCCGCCGAAATGTCCT	0.637																																						.											0													29	33	31					16																	27374339		2196	4300	6496	SO:0001587	stop_gained	3566			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.1666C>T	16.37:g.27374339C>T	ENSP00000379111:p.Arg556*		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	37	6.259888	0.97421	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	5.16	3.14	0.36123	.	6.252000	0.00166	N	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-6.6276	6.1989	0.20565	0.1908:0.7127:0.0:0.0965	.	.	.	.	X	556;556;541;556	.	ENSP00000170630:R556X	R	+	1	2	IL4R	27281840	0.010000	0.17322	0.005000	0.12908	0.109000	0.19521	1.471000	0.35365	0.532000	0.28657	0.555000	0.69702	CGA		0.637	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27374339	C	T	27374339	4	4	31	1	0	0	0	0	0	1	0	0	7698	644	23	1	1718	1	IL4R	16	27374339	Nonsense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	10171703	27374339	62980414	78	2331											
MAPK3	5595	broad.mit.edu	37	chr16	30128535	30128535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcttggagggcagagActgtaggtagtttcgggcct	6	12	16	7	1	1	1	0	0	1	1	2	3	1	2	1	5	0	4	1	5	2	5			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:30128535A>G	ENST00000263025.4	-	6	931	c.847T>C	c.(847-849)Tct>Cct	p.S283P	MAPK3_ENST00000395200.1_Missense_Mutation_p.S215P|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000395199.3_Missense_Mutation_p.S283P|MAPK3_ENST00000403394.1_Missense_Mutation_p.S283P|MAPK3_ENST00000484663.1_Missense_Mutation_p.S169P|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000494643.1_5'Flank	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|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)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|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)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	GAGGGCAGAGACTGTAGGTAG	0.532																																						.											0													137	126	129					16																	30128535		2197	4300	6497	SO:0001583	missense	5595			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.847T>C	16.37:g.30128535A>G	ENSP00000263025:p.Ser283Pro		A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	A	32	5.128040	0.94473	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000403394;ENST00000395200;ENST00000478356;ENST00000395199	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;2.77;0.95	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056597	0.64402	D	0.000001	T	0.49695	0.1572	L	0.49256	1.55	0.80722	D	1	P;P	0.49559	0.925;0.891	P;P	0.50617	0.594;0.646	T	0.52815	-0.8525	10	0.87932	D	0	0.1679	14.9339	0.70938	1.0:0.0:0.0:0.0	.	283;283	P27361-3;P27361	.;MK03_HUMAN	P	283;169;283;215;46;283	ENSP00000263025:S283P;ENSP00000432742:S169P;ENSP00000384895:S283P;ENSP00000378626:S215P;ENSP00000432292:S46P;ENSP00000378625:S283P	ENSP00000263025:S283P	S	-	1	0	MAPK3	30036036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.269000	0.95684	2.171000	0.68590	0.482000	0.46254	TCT		0.532	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			G	30128535	A	G	30128535	3	3	31	1	0	0	0	0	1	0	0	0	9279	275	10	2	361	2	MAPK3	16	30128535	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	2754196	30128535	60226218	79	2332											
ST3GAL2	6483	broad.mit.edu	37	chr16	70432188	70432188	+	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	aagtggctgtcaaaccagtcGgaggcaccggcatcgcccat	10	6	12	13	3	1	0	1	0	0	0	3	1	1	1	3	4	1	3	3	4	2	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:70432188G>A	ENST00000393640.4	-	1	2353	c.246C>T	c.(244-246)tcC>tcT	p.S82S	ST3GAL2_ENST00000566097.1_5'Flank|ST3GAL2_ENST00000342907.2_Silent_p.S82S|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	82					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)	p.S82S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CAAACCAGTCGGAGGCACCGG	0.627																																						.											1	Substitution - coding silent(1)	large_intestine(1)											65	62	63					16																	70432188		2198	4300	6498	SO:0001819	synonymous_variant	6483			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.246C>T	16.37:g.70432188G>A			O00654	Silent	SNP	ENST00000393640.4	37	CCDS10890.1																																																																																				0.627	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		A	70432188	G	A	70432188	2	1	31	1	0	0	0	0	0	0	0	1	15214	1103	39	1		1	ST3GAL2	16	70432188	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10	40303653	70432188	19922565	80	2333											
SDR42E1	93517	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	82032717	82032717	+	Nonstop_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	cttatttctggcccctccttCacagtgacagaatcacagaa	11	11	6	13	0	3	3	2	1	1	2	4	3	4	3	3	1	0	0	3	1	3	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:82032717C>A	ENST00000328945.5	-	3	1308	c.1181G>T	c.(1180-1182)tGa>tTa	p.*394L	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	0					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GCCCCTCCTTCACAGTGACAG	0.453																																						.											0													52	50	51					16																	82032717		1924	4143	6067	SO:0001578	stop_lost	93517			AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.1181G>T	16.37:g.82032717C>A			B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	8.094	0.775064	0.16051	.	.	ENSG00000184860	ENST00000328945	.	.	.	5.52	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0364	0.53427	0.0:0.9198:0.0:0.0802	.	.	.	.	L	394	.	.	X	-	2	2	SDR42E1	80590218	0.065000	0.20965	0.785000	0.31869	0.099000	0.18886	0.580000	0.23803	1.310000	0.45006	0.655000	0.94253	TGA		0.453	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		A	82032717	C	A	82032717	4	1	31	1	0	0	0	0	0	0	0	0	13973	837	29	5	4	5	SDR42E1	16	82032717	Nonstop_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	11600529	82032717	8322036	81	2334											
USP10	9100	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	84793019	84793019	+	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	atgtaccacctgatgaagttCattcctctgtattccaaagt	11	14	6	10	0	2	2	1	2	1	0	4	2	4	2	4	0	1	3	4	0	4	5			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr16:84793019C>A	ENST00000219473.7	+	6	1448	c.1335C>A	c.(1333-1335)ttC>ttA	p.F445L	USP10_ENST00000570191.1_Missense_Mutation_p.F449L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	445	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						TGATGAAGTTCATTCCTCTGT	0.463																																						.											0													119	108	112					16																	84793019		2002	4166	6168	SO:0001583	missense	9100			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.1335C>A	16.37:g.84793019C>A	ENSP00000219473:p.Phe445Leu		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156402	0.38119	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.29397	1.57	5.51	5.51	0.81932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.496131	0.22318	N	0.061647	T	0.15998	0.0385	N	0.03324	-0.35	0.35949	D	0.833793	B;B	0.09022	0.002;0.0	B;B	0.10450	0.002;0.005	T	0.14868	-1.0457	10	0.10636	T	0.68	-11.3568	18.7823	0.91939	0.0:1.0:0.0:0.0	.	449;445	Q14694-3;Q14694	.;UBP10_HUMAN	L	445;7	ENSP00000219473:F445L	ENSP00000219473:F445L	F	+	3	2	USP10	83350520	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.322000	0.59215	2.746000	0.94184	0.591000	0.81541	TTC		0.463	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			A	84793019	C	A	84793019	3	1	31	1	0	0	0	0	1	0	0	0	17038	825	29	5	1357	5	USP10	16	84793019	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	2760302	84793019	5561734	82	2335											
MYH1	4619	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	10395792	10395792	+	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	cttcaccctcagcttgttgaCctgggactcagcaatgtcag	8	11	9	13	0	4	1	4	1	0	0	4	2	4	2	2	1	2	3	2	1	1	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:10395792C>T	ENST00000226207.5	-	40	5855	c.5761G>A	c.(5761-5763)Gtc>Atc	p.V1921I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1921					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCTTGTTGACCTGGGACTCA	0.483																																						.											0													196	179	185					17																	10395792		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5761G>A	17.37:g.10395792C>T	ENSP00000226207:p.Val1921Ile		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213942	0.79352	.	.	ENSG00000109061	ENST00000226207	T	0.77750	-1.12	4.63	4.63	0.57726	Myosin tail (1);	0.000000	0.36234	U	0.002701	T	0.79370	0.4434	M	0.79258	2.445	0.54753	D	0.999985	B	0.14805	0.011	B	0.20577	0.03	T	0.76729	-0.2852	10	0.39692	T	0.17	.	18.0186	0.89249	0.0:1.0:0.0:0.0	.	1921	P12882	MYH1_HUMAN	I	1921	ENSP00000226207:V1921I	ENSP00000226207:V1921I	V	-	1	0	MYH1	10336517	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.568000	0.82369	2.546000	0.85860	0.655000	0.94253	GTC		0.483	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10395792	C	T	10395792	3	4	31	1	0	0	0	0	1	0	0	0	10029	507	18	3	62	3	MYH1	17	10395792	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		10395792	70799418	83	2336											
TRIM16	10626	broad.mit.edu	37	chr17	15534987	15534987	+	Missense_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	tttggaagtccaatatttgcGctgaacaacggcagacactt	12	11	9	9	2	0	2	0	1	0	1	1	3	1	3	1	2	3	2	1	2	5	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:15534987G>A	ENST00000578237.1	-	10	1912	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TRIM16_ENST00000579219.1_Intron|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.R353C|TRIM16_ENST00000577886.1_Missense_Mutation_p.R137C|TRIM16_ENST00000416464.2_Missense_Mutation_p.R223C|TRIM16_ENST00000336708.7_Missense_Mutation_p.R353C			O95361	TRI16_HUMAN	tripartite motif containing 16	353					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)		CAATATTTGCGCTGAACAACG	0.483																																						.											0													163	133	143					17																	15534987		2203	4300	6503	SO:0001583	missense	10626			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.1057C>T	17.37:g.15534987G>A	ENSP00000463188:p.Arg353Cys		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	9.308	1.054847	0.19907	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.69040	-0.13;-0.37	4.61	4.61	0.57282	.	1.272180	0.05169	N	0.499214	T	0.66587	0.2804	L	0.47716	1.5	0.09310	N	1	D;D;D	0.63880	0.987;0.987;0.993	P;P;B	0.46144	0.505;0.505;0.446	T	0.55179	-0.8181	10	0.39692	T	0.17	.	10.5666	0.45175	0.0:0.0:0.8072:0.1928	.	223;353;367	B3KP96;O95361;Q59EB2	.;TRI16_HUMAN;.	C	353;223	ENSP00000338989:R353C;ENSP00000399918:R223C	ENSP00000338989:R353C	R	-	1	0	TRIM16	15475712	0.505000	0.26131	0.009000	0.14445	0.923000	0.55619	1.783000	0.38664	2.262000	0.75019	0.555000	0.69702	CGC		0.483	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		A	15534987	G	A	15534987	3	1	31	1	0	0	0	0	1	0	0	0	16488	1087	38	1	645	1	TRIM16	17	15534987	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	5139195	15534987	65660223	84	2337											
ULK2	9706	ucsc.edu	37	chr17	19705212	19705212	+	Missense_Mutation	SNP	T	T	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	ggaagcccatggggctggtgTtggaccttcgtaccactgca	7	9	14	11	1	0	0	0	0	0	0	1	2	0	2	3	5	3	4	3	5	2	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:19705212T>C	ENST00000395544.4	-	16	1818	c.1319A>G	c.(1318-1320)aAc>aGc	p.N440S	ULK2_ENST00000361658.2_Missense_Mutation_p.N440S|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	440					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGGGCTGGTGTTGGACCTTCG	0.483																																						.											0													163	166	165					17																	19705212		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1319A>G	17.37:g.19705212T>C	ENSP00000378914:p.Asn440Ser		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	T	9.279	1.047567	0.19827	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.44083	0.93;0.93	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	N	0.02916	-0.46	0.49915	D	0.999834	D	0.69078	0.997	D	0.70716	0.97	T	0.31888	-0.9927	10	0.02654	T	1	-23.0341	15.7258	0.77756	0.0:0.0:0.0:1.0	.	440	Q8IYT8	ULK2_HUMAN	S	440	ENSP00000354877:N440S;ENSP00000378914:N440S	ENSP00000354877:N440S	N	-	2	0	ULK2	19645804	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.465000	0.80898	2.311000	0.77944	0.533000	0.62120	AAC		0.483	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		C	19705212	T	C	19705212	3	2	31	1	0	0	0	0	1	0	0	0	16973	1725	60	2	1839	2	ULK2	17	19705212	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	4170225	19705212	61489998	85	2338											
LRRC37A	9884	ucsc.edu	37	chr17	44408776	44408776	+	Missense_Mutation	SNP	T	T	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	ttttctggaagtatctgctcTttcagaacattttatagaga	11	17	7	6	0	4	2	1	0	3	2	4	4	4	3	0	1	2	2	0	1	5	7	rs273532		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:44408776T>C	ENST00000320254.5	+	9	4136	c.4133T>C	c.(4132-4134)cTt>cCt	p.L1378P	LRRC37A_ENST00000496930.1_Missense_Mutation_p.L416P|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575698.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.L1378P|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000575960.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1378						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)		GTATCTGCTCTTTCAGAACAT	0.388																																						.											0													23	18	20					17																	44408776		1771	1871	3642	SO:0001583	missense	9884			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.4133T>C	17.37:g.44408776T>C	ENSP00000326324:p.Leu1378Pro		Q68DY2|Q8IWC7	Missense_Mutation	SNP	ENST00000320254.5	37	CCDS11504.2	63	0.028846153846153848	2	0.0040650406504065045	19	0.052486187845303865	5	0.008741258741258742	37	0.048812664907651716	c	4.196	0.035078	0.08101	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.56103	1.64;0.5;0.48	2.1	-2.82	0.05787	.	.	.	.	.	T	0.02156	0.0067	N	0.00648	-1.295	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12863	-1.0531	9	0.05721	T	0.95	.	7.6392	0.28284	0.0:0.341:0.0:0.659	.	416;1378	E9PP10;A6NMS7	.;L37A1_HUMAN	P	416;1378;1378;1378	ENSP00000437021:L416P;ENSP00000377108:L1378P;ENSP00000326324:L1378P	ENSP00000326324:L1378P	L	+	2	0	LRRC37A	41764537	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.004000	0.01461	-1.201000	0.02659	-0.495000	0.04643	CTT		0.388	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313519.3	NM_014834		C	44408776	T	C	44408776	3	2	31	1	0	0	0	0	1	0	0	0	8991	1609	56	2	4167	2	LRRC37A	17	44408776	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10	24703564	44408776	36786434	86	2339											
DLX3	1747	ucsc.edu	37	chr17	48072253	48072253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtagcccaggtcagtgAcagaagactcgggcagggta	11	7	15	8	1	1	3	1	1	0	2	2	3	1	3	1	3	1	4	1	3	4	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:48072253A>G	ENST00000434704.2	-	1	335	c.110T>C	c.(109-111)gTc>gCc	p.V37A	RP11-1094H24.3_ENST00000511867.1_lincRNA|DLX3_ENST00000512495.2_5'Flank	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	37					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						CAGGTCAGTGACAGAAGACTC	0.592																																						.											0													95	92	93					17																	48072253		2203	4300	6503	SO:0001583	missense	1747				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.110T>C	17.37:g.48072253A>G	ENSP00000389870:p.Val37Ala		B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	A	4.173	0.030746	0.08101	.	.	ENSG00000064195	ENST00000434704	D	0.89123	-2.47	5.01	5.01	0.66863	.	0.075441	0.53938	D	0.000058	T	0.66257	0.2771	N	0.01522	-0.82	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.64935	-0.6290	10	0.02654	T	1	-31.6637	7.3354	0.26607	0.9044:0.0:0.0956:0.0	.	37	O60479	DLX3_HUMAN	A	37	ENSP00000389870:V37A	ENSP00000389870:V37A	V	-	2	0	DLX3	45427252	0.999000	0.42202	0.995000	0.50966	0.996000	0.88848	1.415000	0.34748	2.115000	0.64714	0.402000	0.26972	GTC		0.592	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			G	48072253	A	G	48072253	3	3	31	1	0	0	0	0	1	0	0	0	4572	275	10	2	765	2	DLX3	17	48072253	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	3663477	48072253	33122957	87	2340											
RNF43	54894	ucsc.edu	37	chr17	56439960	56439960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgaagccaggatgatcAcaaagatggtgcccaccact	13	5	10	13	1	1	2	1	1	0	1	1	4	1	3	4	2	2	1	4	2	2	0			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:56439960A>G	ENST00000584437.1	-	5	2587	c.632T>C	c.(631-633)gTg>gCg	p.V211A	RNF43_ENST00000407977.2_Missense_Mutation_p.V211A|RNF43_ENST00000581868.1_Missense_Mutation_p.V84A|RNF43_ENST00000500597.2_Missense_Mutation_p.V170A|RNF43_ENST00000577625.1_Missense_Mutation_p.V84A|RNF43_ENST00000583753.1_Missense_Mutation_p.V170A|RNF43_ENST00000577716.1_Missense_Mutation_p.V211A|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	211					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)					CAGGATGATCACAAAGATGGT	0.602																																						.											0													105	88	94					17																	56439960		2203	4300	6503	SO:0001583	missense	54894				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.632T>C	17.37:g.56439960A>G	ENSP00000463069:p.Val211Ala		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643799	0.87859	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.10382	3.01;2.88	5.43	5.43	0.79202	.	0.274603	0.36303	N	0.002671	T	0.15739	0.0379	N	0.24115	0.695	0.36538	D	0.871114	P;D;P	0.58970	0.952;0.984;0.951	P;P;P	0.55871	0.713;0.786;0.622	T	0.13602	-1.0503	10	0.40728	T	0.16	-15.9882	14.6434	0.68742	1.0:0.0:0.0:0.0	.	170;211;211	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	A	211;170	ENSP00000385328:V211A;ENSP00000441969:V170A	ENSP00000385328:V211A	V	-	2	0	RNF43	53794959	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.542000	0.67218	2.058000	0.61347	0.402000	0.26972	GTG		0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		G	56439960	A	G	56439960	3	3	31	1	0	0	0	0	1	0	0	0	13495	159	6	2	1739	2	RNF43	17	56439960	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	8367707	56439960	24755250	88	2341											
LRRC37A3	374819	bcgsc.ca	37	chr17	62892919	62892919	+	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	gctccaacgctgagctggatCtttcttcagcttcttgggcg	5	13	11	12	2	4	1	1	1	3	0	5	2	5	2	1	2	3	4	1	2	1	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr17:62892919C>A	ENST00000584306.1	-	3	987	c.457G>T	c.(457-459)Gat>Tat	p.D153Y	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D153Y|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	153						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						TGAGCTGGATCTTTCTTCAGC	0.478																																						.											0													49	88	75					17																	62892919		1639	3463	5102	SO:0001583	missense	374819			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.457G>T	17.37:g.62892919C>A	ENSP00000464535:p.Asp153Tyr		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	8.215	0.801125	0.16397	.	.	ENSG00000176809	ENST00000319651	T	0.70164	-0.46	1.87	0.862	0.19056	.	.	.	.	.	T	0.65312	0.2679	L	0.50333	1.59	0.09310	N	1	D	0.53462	0.96	P	0.52856	0.711	T	0.54925	-0.8220	9	0.66056	D	0.02	.	4.5234	0.11969	0.0:0.7977:0.0:0.2023	.	153	O60309	L37A3_HUMAN	Y	153	ENSP00000325713:D153Y	ENSP00000325713:D153Y	D	-	1	0	LRRC37A3	60323381	0.017000	0.18338	0.000000	0.03702	0.043000	0.13939	0.844000	0.27654	0.349000	0.23975	0.162000	0.16502	GAT		0.478	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		A	62892919	C	A	62892919	3	1	31	1	0	0	0	0	1	0	0	0	8993	913	32	5	4495	5	LRRC37A3	17	62892919	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	6452959	62892919	18302291	89	2342											
ESCO1	114799	hgsc.bcm.edu;ucsc.edu	37	chr18	19116141	19116141	+	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	tcaaccatctctctaatctcGtcaacctgccaaataaagaa	15	10	3	13	1	5	1	2	0	3	1	7	1	5	1	3	0	3	0	3	0	7	2	rs369669502		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr18:19116141G>A	ENST00000269214.5	-	10	2986	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	683					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						CTCTAATCTCGTCAACCTGCC	0.308																																						.											0								G		1,4405	2.1+/-5.4	0,1,2202	89	87	88		2049	-4.2	1	18		88	0,8600		0,0,4300	no	coding-synonymous	ESCO1	NM_052911.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		683/841	19116141	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114799			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.2049C>T	18.37:g.19116141G>A			B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Silent	SNP	ENST00000269214.5	37	CCDS32800.1																																																																																				0.308	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		A	19116141	G	A	19116141	2	1	31	1	0	0	0	0	0	0	0	1	5248	1136	40	1		1	ESCO1	18	19116141	Silent	SNP	G	TCGA-KM-8476-01A-11D-2310-10		19116141	58961107	90	2343											
FAM69C	125704	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr18	72114400	72114400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggccggccgcgccagtcgGcctgcagcaccttcttgcct	3	7	13	18	5	1	0	0	0	1	0	2	0	1	0	6	3	3	2	6	3	0	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr18:72114400G>T	ENST00000343998.6	-	2	325	c.317C>A	c.(316-318)gCc>gAc	p.A106D	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	106						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						GCGCCAGTCGGCCTGCAGCAC	0.677																																						.											0													9	10	10					18																	72114400		688	1586	2274	SO:0001583	missense	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.317C>A	18.37:g.72114400G>T	ENSP00000344331:p.Ala106Asp			Missense_Mutation	SNP	ENST00000343998.6	37	CCDS42445.2	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432118	0.62844	.	.	ENSG00000187773	ENST00000343998	T	0.54071	0.59	3.77	3.77	0.43336	.	.	.	.	.	T	0.65396	0.2687	L	0.46157	1.445	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	T	0.69989	-0.4995	9	0.66056	D	0.02	.	16.1637	0.81739	0.0:0.0:1.0:0.0	.	106	Q0P6D2	FA69C_HUMAN	D	106	ENSP00000344331:A106D	ENSP00000344331:A106D	A	-	2	0	FAM69C	70265380	1.000000	0.71417	0.952000	0.39060	0.348000	0.29142	9.115000	0.94336	2.084000	0.62774	0.491000	0.48974	GCC		0.677	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931		T	72114400	G	T	72114400	3	4	31	1	0	0	0	0	1	0	0	0	5604	1203	42	5	954	5	FAM69C	18	72114400	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	52998259	72114400	5962848	91	2344											
ATP9B	374868	broad.mit.edu	37	chr18	77090010	77090010	+	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	gtttatttttgttctttgatAggatgaatccacggcagaaa	11	16	9	5	1	1	3	0	2	1	1	2	4	2	4	1	2	0	3	1	2	4	7			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr18:77090010A>G	ENST00000426216.2	+	17	1952		c.e17-1		ATP9B_ENST00000543761.1_5'Flank|ATP9B_ENST00000307671.7_Splice_Site	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B						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)		GTTCTTTGATAGGATGAATCC	0.423																																						.											0													117	108	111					18																	77090010		2203	4300	6503	SO:0001630	splice_region_variant	374868			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.1936-1A>G	18.37:g.77090010A>G			O60872|Q08AD8|Q08AD9	Splice_Site	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040743	0.35989	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1027	0.72292	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP9B	75190998	1.000000	0.71417	0.984000	0.44739	0.294000	0.27393	8.880000	0.92407	2.018000	0.59344	0.533000	0.62120	.		0.423	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	Intron	G	77090010	A	G	77090010	5	3	31	1	0	0	0	0	0	0	1	0	1199	434	15	2	2000	2	ATP9B	18	77090010	Splice_Site	SNP	A	TCGA-KM-8476-01A-11D-2310-10	4975610	77090010	987238	92	2345											
ICAM1	3383	mdanderson.org;bcgsc.ca	37	chr19	10395799	10395799	+	Missense_Mutation	SNP	T	T	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	tcctccccacagccccccggTatgagattgtcatcatcact	8	10	6	17	1	3	1	3	1	0	1	5	2	5	1	6	1	1	1	6	1	1	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr19:10395799T>C	ENST00000264832.3	+	7	1760	c.1435T>C	c.(1435-1437)Tat>Cat	p.Y479H	ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.Y257H|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000380770.3_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	479					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGCCCCCCGGTATGAGATTGT	0.582																																						.											0													95	99	98					19																	10395799		2203	4300	6503	SO:0001583	missense	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1435T>C	19.37:g.10395799T>C	ENSP00000264832:p.Tyr479His		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	T	6.128	0.391854	0.11581	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.15139	2.45;2.45	5.22	-8.02	0.01118	.	4.968880	0.00728	N	0.000934	T	0.07863	0.0197	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.004;0.013	B;B	0.08055	0.003;0.001	T	0.27536	-1.0071	10	0.15499	T	0.54	0.0697	0.8733	0.01219	0.2333:0.1331:0.3035:0.3301	.	257;479	E7ESS4;P05362	.;ICAM1_HUMAN	H	479;257	ENSP00000264832:Y479H;ENSP00000413124:Y257H	ENSP00000264832:Y479H	Y	+	1	0	ICAM1	10256799	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.518000	0.06267	-1.908000	0.01086	-0.337000	0.08149	TAT		0.582	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			C	10395799	T	C	10395799	3	2	31	1	0	0	0	0	1	0	0	0	7479	1638	57	2	1461	2	ICAM1	19	10395799	Missense_Mutation	SNP	T	TCGA-KM-8476-01A-11D-2310-10		10395799	48733184	93	2346											
QTRT1	81890	broad.mit.edu	37	chr19	10823283	10823283	+	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	ggatgtgacatgttcgactgCgtcttccccacacggacagc	8	9	11	13	3	1	1	0	1	1	0	3	4	2	3	2	2	2	1	2	2	0	2	rs568267343		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr19:10823283C>T	ENST00000250237.5	+	7	850	c.840C>T	c.(838-840)tgC>tgT	p.C280C		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	280					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGTTCGACTGCGTCTTCCCCA	0.642													C|||	1	0.000199681	0	0	5008	,	,		14819	0		0.001	False		,,,				2504	0					.											0													130	119	123					19																	10823283		2203	4300	6503	SO:0001819	synonymous_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.840C>T	19.37:g.10823283C>T			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	ENST00000250237.5	37	CCDS12248.1																																																																																				0.642	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		T	10823283	C	T	10823283	2	4	31	1	0	0	0	0	0	0	0	1	12885	776	27	1		1	QTRT1	19	10823283	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	427484	10823283	48305700	94	2347											
ZNF701	55762	broad.mit.edu;mdanderson.org	37	chr19	53086657	53086657	+	Nonsense_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	aatgtggcaaggtttttaatCgaaaatcaaaccttgaacgt	15	12	8	6	2	1	1	1	1	0	0	2	2	1	1	1	2	2	2	1	2	7	4	rs370144367		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr19:53086657C>T	ENST00000540331.1	+	5	1768	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	ZNF701_ENST00000391785.3_Nonsense_Mutation_p.R449*|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Nonsense_Mutation_p.R515*	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	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)	p.R449*(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGTTTTTAATCGAAAATCAAA	0.358													C|||	1	0.000199681	0	0.0014	5008	,	,		22676	0		0	False		,,,				2504	0				NSCLC(89;451 1475 9611 20673 52284)	.											1	Substitution - Nonsense(1)	large_intestine(1)						C	stop/ARG,stop/ARG	0,4396		0,0,2198	41	41	41		1543,1345	0.6	0	19		41	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained,stop-gained	ZNF701	NM_001172655.1,NM_018260.2	,	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	,	515/532,449/466	53086657	1,12987	2198	4296	6494	SO:0001587	stop_gained	55762			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1543C>T	19.37:g.53086657C>T	ENSP00000444339:p.Arg515*		A2RRM8|B9EGF2|F5GZM6|Q66K42	Nonsense_Mutation	SNP	ENST00000540331.1	37	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500805	0.85176	0.0	1.16E-4	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	.	.	.	1.81	0.618	0.17624	.	.	.	.	.	.	.	.	.	.	.	0.23834	N	0.996711	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	8.7109	0.34382	0.0:0.7615:0.2385:0.0	.	.	.	.	X	449;515;515	.	ENSP00000301093:R515X	R	+	1	2	ZNF701	57778469	.	.	0.000000	0.03702	0.027000	0.11550	.	.	0.072000	0.16694	0.306000	0.20318	CGA		0.358	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		T	53086657	C	T	53086657	4	4	31	1	0	0	0	0	0	1	0	0	18102	876	31	1	1557	1	ZNF701	19	53086657	Nonsense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	42263374	53086657	6042326	95	2348											
LILRA3	11026	broad.mit.edu	37	chr19	54803112	54803112	+	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	gtacgaccacctgcgacttgGgctcacggggcccacggaga	8	5	14	14	4	1	1	1	0	0	1	1	4	1	1	3	4	2	2	3	4	1	2	rs568235562		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr19:54803112G>A	ENST00000251390.3	-	4	656	c.565C>T	c.(565-567)Cca>Tca	p.P189S	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000391745.1_Missense_Mutation_p.P206S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	189	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCGACTTGGGCTCACGGGG	0.592																																						.											0													135	115	122					19																	54803112		2195	4164	6359	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.565C>T	19.37:g.54803112G>A	ENSP00000251390:p.Pro189Ser		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	6.760	0.509147	0.12883	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.02863	4.13;4.13	1.96	-0.554	0.11811	Immunoglobulin-like fold (1);	0.692657	0.13156	N	0.409475	T	0.03651	0.0104	L	0.52573	1.65	0.09310	N	1	B	0.20780	0.048	B	0.30251	0.113	T	0.38373	-0.9664	10	0.52906	T	0.07	.	6.2264	0.20710	0.0:0.0:0.467:0.533	.	189	Q8N6C8	LIRA3_HUMAN	S	189;206	ENSP00000251390:P189S;ENSP00000375625:P206S	ENSP00000251390:P189S	P	-	1	0	LILRA3	59494924	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.571000	0.02138	-0.025000	0.13918	0.485000	0.47835	CCA		0.592	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			A	54803112	G	A	54803112	3	1	31	1	0	0	0	0	1	0	0	0	8786	1232	43	3	770	3	LILRA3	19	54803112	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	1716455	54803112	4325871	96	2349											
MYH7B	57644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	33575696	33575696	+	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	ttcatcggggttctggacatCgctgggtttgagatctttga	6	15	13	7	2	3	2	1	2	2	1	5	4	3	3	0	4	0	3	0	4	0	4			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr20:33575696C>T	ENST00000262873.7	+	16	1613	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	465	Myosin motor.					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)			TTCTGGACATCGCTGGGTTTG	0.602																																						.											0													55	64	61					20																	33575696		2159	4287	6446	SO:0001819	synonymous_variant	57644			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.1521C>T	20.37:g.33575696C>T			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	CCDS42869.1																																																																																				0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		T	33575696	C	T	33575696	2	4	31	1	0	0	0	0	0	0	0	1	10040	874	31	1		1	MYH7B	20	33575696	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10		33575696	29449824	97	2350											
B3GALT5	10317	ucsc.edu	37	chr21	41033240	41033240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtggggctctgcctcgaaAggctgaacatcagattggag	9	10	14	8	1	2	2	1	1	1	1	3	4	2	3	1	4	2	2	1	4	2	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr21:41033240A>G	ENST00000380620.4	+	5	1346	c.754A>G	c.(754-756)Agg>Ggg	p.R252G	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R252G|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R252G|B3GALT5_ENST00000398714.2_Missense_Mutation_p.R252G			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	252					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)				CTGCCTCGAAAGGCTGAACAT	0.547																																						.											0													94	93	94					21																	41033240		2203	4300	6503	SO:0001583	missense	10317			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.754A>G	21.37:g.41033240A>G	ENSP00000369994:p.Arg252Gly		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	A	9.108	1.005925	0.19199	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.64	3.23	0.37069	.	0.697068	0.13081	N	0.415340	D	0.82481	0.5046	L	0.57536	1.79	0.09310	N	1	P	0.35124	0.485	B	0.33295	0.161	T	0.74948	-0.3490	10	0.72032	D	0.01	.	5.8292	0.18570	0.6958:0.1628:0.1414:0.0	.	252	Q9Y2C3	B3GT5_HUMAN	G	252	ENSP00000369994:R252G;ENSP00000369992:R252G;ENSP00000343318:R252G;ENSP00000381699:R252G	ENSP00000343318:R252G	R	+	1	2	B3GALT5	39955110	0.997000	0.39634	0.001000	0.08648	0.034000	0.12701	3.644000	0.54381	0.926000	0.37118	0.533000	0.62120	AGG		0.547	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		G	41033240	A	G	41033240	3	3	31	1	0	0	0	0	1	0	0	0	1250	63	3	2	756	2	B3GALT5	21	41033240	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10		41033240	7096655	98	2351											
HIC2	23119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	21800335	21800335	+	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	cctggctagtggggctggccCtagcgggccctatggggagc	4	7	18	12	1	0	0	0	0	0	0	0	1	0	1	3	7	2	2	3	7	3	3			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr22:21800335C>G	ENST00000443632.2	+	2	1523	c.1151C>G	c.(1150-1152)cCt>cGt	p.P384R	HIC2_ENST00000407464.2_Missense_Mutation_p.P384R|HIC2_ENST00000407598.2_Missense_Mutation_p.P384R			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	384					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)				GGGGCTGGCCCTAGCGGGCCC	0.687																																					NSCLC(23;437 858 2282 27947 40366)	.											0																																										SO:0001583	missense	23119			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.1151C>G	22.37:g.21800335C>G	ENSP00000387757:p.Pro384Arg		Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	C	2.050	-0.417999	0.04766	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.10763	2.84;2.84;2.84	4.63	3.58	0.41010	.	1.024570	0.07770	N	0.951539	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35699	-0.9778	10	0.33141	T	0.24	.	5.5125	0.16888	0.2208:0.6782:0.0:0.101	.	384	Q96JB3	HIC2_HUMAN	R	384	ENSP00000385319:P384R;ENSP00000384889:P384R;ENSP00000387757:P384R	ENSP00000385319:P384R	P	+	2	0	HIC2	20130335	0.004000	0.15560	0.801000	0.32222	0.286000	0.27126	0.749000	0.26320	1.235000	0.43724	0.655000	0.94253	CCT		0.687	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			G	21800335	C	G	21800335	3	3	31	1	0	0	0	0	1	0	0	0	7102	681	24	5	1157	5	HIC2	22	21800335	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		21800335	29504231	99	2352											
ZNF280B	140883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	22842485	22842485	+	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	gtttctacatcagcaaagacCgacgatctataatggcaaac	15	9	7	10	2	3	1	1	0	2	1	3	3	3	1	1	1	3	3	1	1	5	4	rs141102079	byFrequency	TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr22:22842485C>T	ENST00000406426.1	-	4	1981	c.1239G>A	c.(1237-1239)tcG>tcA	p.S413S	ZNF280B_ENST00000360412.2_Silent_p.S413S			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	413					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)		CAGCAAAGACCGACGATCTAT	0.403													C|||	2	0.000399361	0.0015	0	5008	,	,		19648	0		0	False		,,,				2504	0					.											0								C		3,4403	6.2+/-15.9	0,3,2200	131	122	125		1239	-9.2	0	22	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	ZNF280B	NM_080764.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		413/544	22842485	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140883			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.1239G>A	22.37:g.22842485C>T				Silent	SNP	ENST00000406426.1	37	CCDS13799.1																																																																																				0.403	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		T	22842485	C	T	22842485	2	4	31	1	0	0	0	0	0	0	0	1	17812	639	23	1		1	ZNF280B	22	22842485	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	1042150	22842485	28462081	100	2353											
HPS4	89781	broad.mit.edu	37	chr22	26860415	26860415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggagccctgccatctggaAcaggcacatgtaggaaggca	13	5	13	10	0	1	0	0	0	1	0	1	3	1	3	2	5	3	3	2	5	4	1			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr22:26860415A>G	ENST00000398145.2	-	11	1797	c.1181T>C	c.(1180-1182)gTt>gCt	p.V394A	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000398141.1_Missense_Mutation_p.V407A|HPS4_ENST00000402105.3_Missense_Mutation_p.V389A|HPS4_ENST00000336873.5_Missense_Mutation_p.V394A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	394					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCCATCTGGAACAGGCACATG	0.552									Hermansky-Pudlak syndrome																													.											0													73	66	68					22																	26860415		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1181T>C	22.37:g.26860415A>G	ENSP00000381213:p.Val394Ala		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	A	0.060	-1.226539	0.01518	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.52526	1.73;1.69;1.73;1.73;0.66	3.99	0.277	0.15668	.	0.653399	0.13948	N	0.351736	T	0.13243	0.0321	N	0.01410	-0.885	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001	T	0.25813	-1.0121	10	0.07482	T	0.82	-3.4244	2.9116	0.05739	0.361:0.2352:0.4038:0.0	.	394;394;394;394;407;389	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	A	394;407;389;394;412;412	ENSP00000381213:V394A;ENSP00000381210:V407A;ENSP00000384185:V389A;ENSP00000338457:V394A;ENSP00000415081:V412A	ENSP00000325840:V412A	V	-	2	0	HPS4	25190415	0.020000	0.18652	0.000000	0.03702	0.022000	0.10575	1.574000	0.36482	-0.090000	0.12462	0.533000	0.62120	GTT		0.552	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		G	26860415	A	G	26860415	3	3	31	1	0	0	0	0	1	0	0	0	7341	43	2	2	961	2	HPS4	22	26860415	Missense_Mutation	SNP	A	TCGA-KM-8476-01A-11D-2310-10	4017930	26860415	24444151	101	2354											
MGAT3	4248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	39884300	39884300	+	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	gacgacgtcttcatcattgaCgatgcggacgagatcccggc	9	8	12	12	6	3	2	2	1	1	1	4	7	4	3	1	2	1	0	1	2	0	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chr22:39884300C>T	ENST00000341184.6	+	2	1163	c.948C>T	c.(946-948)gaC>gaT	p.D316D		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	316					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)					TCATCATTGACGATGCGGACG	0.647																																						.											0													72	74	73					22																	39884300		2203	4297	6500	SO:0001819	synonymous_variant	4248			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.948C>T	22.37:g.39884300C>T			A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	CCDS13994.2																																																																																				0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		T	39884300	C	T	39884300	2	4	31	1	0	0	0	0	0	0	0	1	9544	535	19	1		1	MGAT3	22	39884300	Silent	SNP	C	TCGA-KM-8476-01A-11D-2310-10	13023885	39884300	11420266	102	2355											
RBM3	5935	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	48434802	48434802	+	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	tgggcgtggtcgcagctactCtagaggtgagtgcagtgatc	7	10	16	8	2	1	3	0	2	1	1	3	3	1	3	0	3	3	3	0	3	2	2			TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chrX:48434802C>T	ENST00000376759.3	+	4	374	c.311C>T	c.(310-312)tCt>tTt	p.S104F	RBM3_ENST00000354480.2_Silent_p.L77L|RBM3_ENST00000376755.1_Missense_Mutation_p.S104F|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000466764.1_3'UTR|RBM3_ENST00000430348.2_Silent_p.L77L	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	104	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						CGCAGCTACTCTAGAGGTGAG	0.537																																						.											0													69	57	61					X																	48434802		2203	4300	6503	SO:0001583	missense	5935			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.311C>T	X.37:g.48434802C>T	ENSP00000365950:p.Ser104Phe			Missense_Mutation	SNP	ENST00000376759.3	37	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	C	4.891	0.165533	0.09339	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	T;T	0.74632	-0.86;-0.86	5.05	4.17	0.49024	.	0.406828	0.17473	U	0.173017	T	0.57607	0.2065	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51482	-0.8700	10	0.19147	T	0.46	-10.0799	6.7782	0.23630	0.0:0.7154:0.1801:0.1044	.	104	P98179	RBM3_HUMAN	F	104	ENSP00000365950:S104F;ENSP00000365946:S104F	ENSP00000365946:S104F	S	+	2	0	RBM3	48319746	0.997000	0.39634	0.999000	0.59377	0.978000	0.69477	2.732000	0.47352	2.222000	0.72286	0.513000	0.50165	TCT		0.537	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060755.1	NM_006743		T	48434802	C	T	48434802	3	4	31	1	0	0	0	0	1	0	0	0	13129	913	32	4	321	4	RBM3	23	48434802	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10		48434802	106835758	103	2356											
ZCCHC5	203430	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	77913571	77913571	+	Missense_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	actcccgggttgctggaggcGccagggactctggggctgct	4	8	17	12	2	1	0	0	0	1	0	2	2	2	2	2	6	2	4	2	6	0	1	rs144237768		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chrX:77913571G>A	ENST00000321110.1	-	2	642	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A116V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTGGAGGCGCCAGGGACTC	0.627																																						.											1	Substitution - Missense(1)	prostate(1)						G	VAL/ALA	1,3834		0,1,1631,571	23	26	25		347	1.8	0	X	dbSNP_134	25	0,6724		0,0,2428,1868	no	missense	ZCCHC5	NM_152694.2	64	0,1,4059,2439	AA,AG,GG,G		0.0,0.0261,0.0095	benign	116/476	77913571	1,10558	2203	4296	6499	SO:0001583	missense	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.347C>T	X.37:g.77913571G>A	ENSP00000316794:p.Ala116Val		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980926	0.18812	2.61E-4	0.0	ENSG00000179300	ENST00000321110	T	0.18502	2.21	3.01	1.84	0.25277	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.31223	-0.9951	9	0.51188	T	0.08	.	7.1902	0.25821	0.0:0.0:0.2253:0.7747	.	116	Q8N8U3	ZCHC5_HUMAN	V	116	ENSP00000316794:A116V	ENSP00000316794:A116V	A	-	2	0	ZCCHC5	77800227	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.294000	0.08309	0.411000	0.25702	-0.623000	0.04022	GCG		0.627	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		A	77913571	G	A	77913571	3	1	31	1	0	0	0	0	1	0	0	0	17588	1087	38	1	1084	1	ZCCHC5	23	77913571	Missense_Mutation	SNP	G	TCGA-KM-8476-01A-11D-2310-10	29478769	77913571	77356989	104	2357											
MAGEC1	9947	mdanderson.org	37	chrX	140994352	140994352	+	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	tctcctccactttactgagtCttttccagagttcccctgag	6	15	6	14	0	2	3	0	2	2	1	6	3	5	3	5	0	1	1	5	0	1	5	rs113701062		TCGA-KM-8476-01A-11D-2310-10	TCGA-KM-8476-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	5bebc389-de0d-45b8-9d2f-6476988c358a	69f24cd1-4ec4-4ef0-876f-4eda31a72245	g.chrX:140994352C>A	ENST00000285879.4	+	4	1448	c.1162C>A	c.(1162-1164)Ctt>Att	p.L388I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	388										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)					TTTACTGAGTCTTTTCCAGAG	0.493										HNSCC(15;0.026)			-|||	52	0.0137748	0.028	0.0115	3775	,	,		13425	0		0.005	False		,,,				2504	0.002					.											0													104	111	109					X																	140994352		2202	4293	6495	SO:0001583	missense	9947			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.1162C>A	X.37:g.140994352C>A	ENSP00000285879:p.Leu388Ile		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.943046	0.00479	.	.	ENSG00000155495	ENST00000285879	T	0.02345	4.33	.	.	.	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.32829	0.386	B	0.23150	0.044	T	0.43605	-0.9381	8	0.87932	D	0	.	5.684	0.17792	0.0:0.6646:0.3354:0.0	.	388	O60732	MAGC1_HUMAN	I	388	ENSP00000285879:L388I	ENSP00000285879:L388I	L	+	1	0	MAGEC1	140822018	0.009000	0.17119	0.040000	0.18447	0.040000	0.13550	0.074000	0.14662	-1.619000	0.01566	-1.645000	0.00762	CTT		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994352	C	A	140994352	3	1	31	1	0	0	0	0	1	0	0	0	9180	913	32	5	1168	5	MAGEC1	23	140994352	Missense_Mutation	SNP	C	TCGA-KM-8476-01A-11D-2310-10	63080781	140994352	14276208	105	2358											
HNRNPCL1	343069	bcgsc.ca	37	chr1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagctggtcatcccccTgatcttcattaacatcatca	10	12	4	15	0	5	1	4	1	1	0	7	1	7	1	3	1	2	1	3	1	1	2	rs74587302|rs559905244	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:12907358T>C	ENST00000317869.6	-	2	1010	c.785A>G	c.(784-786)cAg>cGg	p.Q262R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	262						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTCATCCCCCTGATCTTCATT	0.498																																						.											0													143	157	152					1																	12907358		2203	4300	6503	SO:0001583	missense	343069			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.785A>G	1.37:g.12907358T>C	ENSP00000365370:p.Gln262Arg		B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.089806	0.00367	.	.	ENSG00000179172	ENST00000317869	T	0.09445	2.98	0.343	-0.686	0.11324	.	2.239460	0.02976	N	0.145045	T	0.04724	0.0128	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33650	-0.9860	10	0.33940	T	0.23	.	3.9448	0.09344	0.0:0.3889:0.0:0.6111	.	262	O60812	HNRCL_HUMAN	R	262	ENSP00000365370:Q262R	ENSP00000365370:Q262R	Q	-	2	0	HNRNPCL1	12829945	0.213000	0.23551	0.005000	0.12908	0.003000	0.03518	0.096000	0.15147	-0.605000	0.05753	-0.620000	0.04034	CAG		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907358	T	C	12907358	3	2	32	1	0	0	0	0	1	0	0	0	7263	1580	55	2	98	2	HNRNPCL1	1	12907358	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10		12907358	236343263	1	2359											
RBMXL1	494115	mdanderson.org	37	chr1	89449135	89449135	+	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	ccatcatccatgtgtcctccTcgtgaaggaggtcccctggt	6	11	10	14	1	1	1	1	1	0	0	6	2	5	2	6	3	0	0	6	3	1	0			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:89449135T>C	ENST00000321792.5	-	2	802	c.375A>G	c.(373-375)cgA>cgG	p.R125R	RBMXL1_ENST00000399794.2_Silent_p.R125R|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370491.3_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	125					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGTGTCCTCCTCGTGAAGGAG	0.527																																						.											0													110	118	116					1																	89449135		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.375A>G	1.37:g.89449135T>C				Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.527	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		C	89449135	T	C	89449135	2	2	32	1	0	0	0	0	0	0	0	1	13153	1538	54	2		2	RBMXL1	1	89449135	Silent	SNP	T	TCGA-KM-8477-01A-11D-2310-10	76541777	89449135	159801486	2	2360											
CHIA	27159	broad.mit.edu;bcgsc.ca	37	chr1	111857960	111857960	+	Missense_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	ctcagtcatcaaattcctgcGccagtatgagtttgacgggc	9	11	10	11	2	3	2	3	2	0	0	4	2	4	2	2	1	1	2	2	1	2	3	rs140031055		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:111857960G>A	ENST00000369740.1	+	6	486	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.R20H|CHIA_ENST00000451398.2_5'UTR|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	128					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AAATTCCTGCGCCAGTATGAG	0.547																																						.											0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	110	106	107		59,383	1.8	0.9	1	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHIA	NM_021797.2,NM_201653.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	20/369,128/477	111857960	1,13005	2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.383G>A	1.37:g.111857960G>A	ENSP00000358755:p.Arg128His		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039601	0.55003	0.0	1.16E-4	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320;ENST00000430615	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	4.72	1.77	0.24775	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159070	0.41194	N	0.000933	T	0.05547	0.0146	M	0.79343	2.45	0.80722	D	1	P	0.38642	0.641	B	0.38296	0.27	T	0.10268	-1.0637	10	0.62326	D	0.03	-14.2335	8.9773	0.35944	0.2554:0.0:0.7446:0.0	.	128	Q9BZP6	CHIA_HUMAN	H	72;128;128;20	ENSP00000387671:R72H;ENSP00000358755:R128H;ENSP00000341828:R128H;ENSP00000391132:R20H	ENSP00000341828:R128H	R	+	2	0	CHIA	111659483	0.995000	0.38212	0.854000	0.33618	0.835000	0.47333	1.857000	0.39399	0.160000	0.19432	-0.123000	0.14984	CGC		0.547	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			A	111857960	G	A	111857960	3	1	32	1	0	0	0	0	1	0	0	0	3342	1087	38	1	401	1	CHIA	1	111857960	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	22408825	111857960	137392661	3	2361											
NOTCH2	4853	broad.mit.edu	37	chr1	120539668	120539668	+	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	gtcaccagtctgccgacaggTgcctccattgacacaaggtg	9	8	11	13	1	2	1	1	1	1	0	3	2	3	1	4	2	2	0	4	2	1	1	rs200464440		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:120539668T>A	ENST00000256646.2	-	4	922	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	NOTCH2_ENST00000602566.1_Missense_Mutation_p.T196S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	235	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			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)		TGCCGACAGGTGCCTCCATTG	0.572			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													50	40	43					1																	120539668		2203	4299	6502	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.703A>T	1.37:g.120539668T>A	ENSP00000256646:p.Thr235Ser		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508758	0.85282	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	T	0.33438	1.41	5.83	5.83	0.93111	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38897	U	0.001527	T	0.42471	0.1204	L	0.58510	1.815	0.80722	D	1	P;D;D	0.71674	0.924;0.998;0.965	P;D;P	0.77004	0.585;0.989;0.834	T	0.25082	-1.0142	10	0.41790	T	0.15	.	15.3661	0.74523	0.0:0.0:0.0:1.0	.	196;235;235	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	235;196;208;196	ENSP00000256646:T235S	ENSP00000256646:T235S	T	-	1	0	NOTCH2	120341191	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.185000	0.72013	2.216000	0.71823	0.477000	0.44152	ACC		0.572	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120539668	T	A	120539668	3	1	32	1	0	0	0	0	1	0	0	0	10548	1696	59	5	6836	5	NOTCH2	1	120539668	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10	8681708	120539668	128710953	4	2362											
POLR3C	10623	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	145594109	145594109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcatctcctctatttcttGtaactgtgcttcctctgcac	6	17	5	13	0	5	0	1	0	4	0	7	1	6	0	2	0	3	3	2	0	2	5			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:145594109G>T	ENST00000334163.3	-	14	1613	c.1453C>A	c.(1453-1455)Caa>Aaa	p.Q485K	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	485					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTATTTCTTGTAACTGTGCT	0.438																																						.											0													241	212	222					1																	145594109		2203	4300	6503	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1453C>A	1.37:g.145594109G>T	ENSP00000334564:p.Gln485Lys		O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	G	6.912	0.537952	0.13188	.	.	ENSG00000186141	ENST00000334163	T	0.40756	1.02	5.63	5.63	0.86233	.	0.124751	0.56097	D	0.000040	T	0.12944	0.0314	N	0.22421	0.69	0.80722	D	1	B;B	0.30326	0.2;0.276	B;B	0.22601	0.021;0.04	T	0.05068	-1.0908	10	0.08599	T	0.76	-14.2576	15.1849	0.72993	0.0:0.0:1.0:0.0	.	485;485	Q9BUI4;Q53F76	RPC3_HUMAN;.	K	485	ENSP00000334564:Q485K	ENSP00000334564:Q485K	Q	-	1	0	POLR3C	144305466	1.000000	0.71417	0.513000	0.27749	0.769000	0.43574	4.916000	0.63362	2.665000	0.90641	0.563000	0.77884	CAA		0.438	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		T	145594109	G	T	145594109	3	4	32	1	0	0	0	0	1	0	0	0	12230	1386	48	5	159	5	POLR3C	1	145594109	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	25054441	145594109	103656512	5	2363											
FLG	2312	mdanderson.org	37	chr1	152280597	152280597	+	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	gacccagaccgcctctcagaAtcttctgagtgtccctcact	8	10	7	16	1	4	3	2	1	3	2	6	4	5	3	4	0	0	0	4	0	1	1	rs3126077		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr1:152280597A>G	ENST00000368799.1	-	3	6800	c.6765T>C	c.(6763-6765)gaT>gaC	p.D2255D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2255	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)			GCCTCTCAGAATCTTCTGAGT	0.582									Ichthyosis																													.											0													197	197	197					1																	152280597		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.6765T>C	1.37:g.152280597A>G			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280597	A	G	152280597	2	3	32	1	0	0	0	0	0	0	0	1	5922	98	4	4		4	FLG	1	152280597	Silent	SNP	A	TCGA-KM-8477-01A-11D-2310-10	6686488	152280597	96970024	6	2364											
BIRC6	57448	ucsc.edu	37	chr2	32617105	32617105	+	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	cataaagtatgtttacttttAgatcactgatgtatagtgaa	14	16	7	4	0	1	3	1	2	0	1	1	3	1	3	0	0	1	3	0	0	8	8			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:32617105A>G	ENST00000421745.2	+	5	973		c.e5-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						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)					GTTTACTTTTAGATCACTGAT	0.378																																					Pancreas(94;175 1509 16028 18060 45422)	.											0													48	46	47					2																	32617105		2199	4298	6497	SO:0001630	splice_region_variant	57448			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.840-1A>G	2.37:g.32617105A>G			Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089774	0.76756	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32470609	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.180000	0.94867	2.263000	0.75096	0.533000	0.62120	.		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	G	32617105	A	G	32617105	5	3	32	1	0	0	0	0	0	0	1	0	1438	434	15	2	856	2	BIRC6	2	32617105	Splice_Site	SNP	A	TCGA-KM-8477-01A-11D-2310-10		32617105	210582268	7	2365											
DNAH6	1768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	84928427	84928427	+	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	gagcttatcaatctttacctGtctatgctgtctgaaaaaag	12	14	7	8	0	4	1	1	1	3	0	4	2	4	1	1	0	3	2	1	0	7	4			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:84928427G>T	ENST00000237449.6	+	48	8033	c.8025G>T	c.(8023-8025)ctG>ctT	p.L2675L	DNAH6_ENST00000389394.3_Silent_p.L2675L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2675					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						ATCTTTACCTGTCTATGCTGT	0.423																																						.											0													138	114	121					2																	84928427		692	1591	2283	SO:0001819	synonymous_variant	1768			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.8025G>T	2.37:g.84928427G>T			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																				0.423	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		T	84928427	G	T	84928427	2	4	32	1	0	0	0	0	0	0	0	1	4605	1364	48	5		5	DNAH6	2	84928427	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	52311322	84928427	158270946	8	2366											
LCT	3938	broad.mit.edu	37	chr2	136555689	136555689	+	Missense_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	cattcttgaaaataggatgtGcaaaccagcctcccatgaac	14	9	7	11	0	1	2	0	2	1	0	2	3	2	3	3	1	4	1	3	1	5	3			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:136555689G>A	ENST00000264162.2	-	13	4896	c.4886C>T	c.(4885-4887)gCa>gTa	p.A1629V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1629	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)	AATAGGATGTGCAAACCAGCC	0.567											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													99	90	93					2																	136555689		2203	4300	6503	SO:0001583	missense	3938			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.4886C>T	2.37:g.136555689G>A	ENSP00000264162:p.Ala1629Val	1626	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275201	0.95459	.	.	ENSG00000115850	ENST00000264162	T	0.56275	0.47	5.76	5.76	0.90799	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.051426	0.85682	D	0.000000	T	0.65512	0.2698	M	0.80422	2.495	0.80722	D	1	P	0.38535	0.635	B	0.43536	0.423	T	0.69312	-0.5178	10	0.72032	D	0.01	-9.126	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1629	P09848	LPH_HUMAN	V	1629	ENSP00000264162:A1629V	ENSP00000264162:A1629V	A	-	2	0	LCT	136272159	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	9.859000	0.99545	2.713000	0.92767	0.655000	0.94253	GCA		0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136555689	G	A	136555689	3	1	32	1	0	0	0	0	1	0	0	0	8693	1319	46	4	917	4	LCT	2	136555689	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	51627262	136555689	106643684	9	2367											
FZD7	8324	broad.mit.edu	37	chr2	202901005	202901005	+	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	atcgtcggcatcaccactggCttctggatctggtcgggcaa	7	10	12	12	3	3	0	1	0	2	0	6	1	3	1	1	5	0	3	1	5	1	1			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr2:202901005C>T	ENST00000286201.1	+	1	1696	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	545					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|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)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCACTGGCTTCTGGATCT	0.637											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													56	58	57					2																	202901005		2203	4299	6502	SO:0001819	synonymous_variant	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1635C>T	2.37:g.202901005C>T		2133	O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	CCDS2351.1																																																																																				0.637	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		T	202901005	C	T	202901005	2	4	32	1	0	0	0	0	0	0	0	1	6135	784	28	4		4	FZD7	2	202901005	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10	66345316	202901005	40298368	10	2368											
PAK2	5062	mdanderson.org	37	chr3	196529982	196529982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtgctggatgtcctaaAgttctacgactccaacacag	10	10	10	11	1	1	0	0	0	1	0	3	2	3	1	2	2	3	3	2	2	4	3	rs78043821	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr3:196529982A>G	ENST00000327134.3	+	4	705	c.383A>G	c.(382-384)aAg>aGg	p.K128R		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	128	Autoregulatory region. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		GATGTCCTAAAGTTCTACGAC	0.463																																						.											0													107	95	99					3																	196529982		2203	4300	6503	SO:0001583	missense	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.383A>G	3.37:g.196529982A>G	ENSP00000314067:p.Lys128Arg		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176399	0.78564	.	.	ENSG00000180370	ENST00000327134	D	0.86230	-2.09	5.27	5.27	0.74061	PAK-box/P21-Rho-binding (1);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	L	0.55743	1.74	0.80722	D	1	P	0.37015	0.578	B	0.43155	0.41	D	0.86926	0.2070	10	0.48119	T	0.1	.	14.3609	0.66771	1.0:0.0:0.0:0.0	.	128	Q13177	PAK2_HUMAN	R	128	ENSP00000314067:K128R	ENSP00000314067:K128R	K	+	2	0	PAK2	198014379	1.000000	0.71417	0.990000	0.47175	0.859000	0.49053	6.986000	0.76200	2.002000	0.58637	0.460000	0.39030	AAG		0.463	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196529982	A	G	196529982	3	3	32	1	0	0	0	0	1	0	0	0	11401	72	3	2	393	2	PAK2	3	196529982	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10		196529982	1492448	11	2369											
WDFY3	23001	broad.mit.edu	37	chr4	85630103	85630103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatccaggggaagacaggatActgcatgagatcattatatg	14	9	12	6	0	1	2	1	1	0	2	2	6	2	4	1	3	2	1	1	3	4	3			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr4:85630103A>G	ENST00000295888.4	-	53	8583	c.8176T>C	c.(8176-8178)Tat>Cat	p.Y2726H	WDFY3_ENST00000322366.6_Missense_Mutation_p.Y2709H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2726	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGACAGGATACTGCATGAGA	0.338																																						.											0													102	104	103					4																	85630103		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8176T>C	4.37:g.85630103A>G	ENSP00000295888:p.Tyr2726His		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629736	0.87660	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	D;D;D	0.90955	-2.76;-2.76;-2.76	5.41	5.41	0.78517	BEACH domain (4);	0.114190	0.64402	D	0.000008	D	0.94456	0.8216	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94834	0.7999	10	0.66056	D	0.02	.	15.6304	0.76904	1.0:0.0:0.0:0.0	.	2726	Q8IZQ1	WDFY3_HUMAN	H	2709;2726;329	ENSP00000318466:Y2709H;ENSP00000295888:Y2726H;ENSP00000424987:Y329H	ENSP00000295888:Y2726H	Y	-	1	0	WDFY3	85849127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.083000	0.94067	2.279000	0.76181	0.528000	0.53228	TAT		0.338	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85630103	A	G	85630103	3	3	32	1	0	0	0	0	1	0	0	0	17267	391	14	2	2468	2	WDFY3	4	85630103	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10		85630103	105524173	12	2370											
CEP72	55722	hgsc.bcm.edu	37	chr5	612536	612536	+	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	gcggttcgggcgaagagcggCttagggcctcaccgcgacct	6	6	16	13	6	1	1	1	0	0	1	2	3	1	1	3	4	1	2	3	4	2	2	rs545143344	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr5:612536C>T	ENST00000264935.5	+	1	150	c.60C>T	c.(58-60)ggC>ggT	p.G20G	CEP72_ENST00000444221.1_Silent_p.G20G|RP11-310P5.1_ENST00000506629.1_RNA	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	20					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGAAGAGCGGCTTAGGGCCTC	0.771													C|||	27	0.00539137	0.0197	0.0014	5008	,	,		5075	0		0	False		,,,				2504	0					.											0													4	4	4					5																	612536		1488	2785	4273	SO:0001819	synonymous_variant	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.60C>T	5.37:g.612536C>T			B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	CCDS34126.1																																																																																				0.771	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		T	612536	C	T	612536	2	4	32	1	0	0	0	0	0	0	0	1	3260	784	28	4		4	CEP72	5	612536	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10		612536	180302724	13	2371											
RXFP3	51289	broad.mit.edu	37	chr5	33937368	33937368	+	Missense_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	ccagcgtgttcttcctcactGccatgagtgtgacgcgctac	6	11	10	14	3	2	2	1	2	1	0	3	2	3	2	3	0	3	2	3	0	1	3			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr5:33937368G>A	ENST00000330120.3	+	1	878	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	175					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTTCCTCACTGCCATGAGTGT	0.617																																						.											0													92	88	89					5																	33937368		2203	4300	6503	SO:0001583	missense	51289			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.523G>A	5.37:g.33937368G>A	ENSP00000328708:p.Ala175Thr		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315132	0.81358	.	.	ENSG00000182631	ENST00000330120	T	0.19806	2.12	5.53	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.161807	0.53938	D	0.000044	T	0.42787	0.1218	M	0.85462	2.755	0.41941	D	0.990619	P	0.38250	0.624	P	0.52758	0.708	T	0.33879	-0.9851	10	0.37606	T	0.19	-20.1582	13.2994	0.60315	0.0:0.0959:0.7683:0.1358	.	175	Q9NSD7	RL3R1_HUMAN	T	175	ENSP00000328708:A175T	ENSP00000328708:A175T	A	+	1	0	RXFP3	33973125	1.000000	0.71417	0.685000	0.30070	0.955000	0.61496	3.155000	0.50700	-0.026000	0.13895	0.650000	0.86243	GCC		0.617	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		A	33937368	G	A	33937368	3	1	32	1	0	0	0	0	1	0	0	0	13761	1319	46	4	525	4	RXFP3	5	33937368	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	33324832	33937368	146977892	14	2372											
LRRTM2	26045	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	138209476	138209476	+	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	atttcatttccagtcaggtcTagcttttctaaagtgcccca	9	15	6	11	0	4	0	2	0	2	0	5	0	5	0	3	1	2	1	3	1	3	6			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr5:138209476T>G	ENST00000274711.6	-	2	1152	c.774A>C	c.(772-774)ctA>ctC	p.L258L	LRRTM2_ENST00000523537.1_5'Flank|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000521094.2_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	258					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTCAGGTCTAGCTTTTCTA	0.438																																						.											0													311	303	306					5																	138209476		1926	4143	6069	SO:0001819	synonymous_variant	26045			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.774A>C	5.37:g.138209476T>G			A0AVL3|A8K4U9|B7ZLN8|Q7L770	Silent	SNP	ENST00000274711.6	37	CCDS47272.1																																																																																				0.438	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			G	138209476	T	G	138209476	2	3	32	1	0	0	0	0	0	0	0	1	9040	1509	53	5		5	LRRTM2	5	138209476	Silent	SNP	T	TCGA-KM-8477-01A-11D-2310-10	104272108	138209476	42705784	15	2373											
GTF2H4	2968	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	30879492	30879492	+	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	ggaaggtatgagtgattctcTgttgaacttcctgcaacatc	10	13	10	8	0	1	3	0	3	1	0	4	4	2	4	1	2	3	3	1	2	4	4			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr6:30879492T>A	ENST00000259895.4	+	9	996	c.773T>A	c.(772-774)cTg>cAg	p.L258Q	GTF2H4_ENST00000539324.1_Missense_Mutation_p.L202Q|GTF2H4_ENST00000376316.2_Missense_Mutation_p.L258Q|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000541562.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	258					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 viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|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)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGTGATTCTCTGTTGAACTTC	0.498								Nucleotide excision repair (NER)																														.											0													117	109	111					6																	30879492		1511	2709	4220	SO:0001583	missense	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.773T>A	6.37:g.30879492T>A	ENSP00000259895:p.Leu258Gln		B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925877	0.52759	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.35789	1.29;1.29;1.29	5.42	5.42	0.78866	.	0.000000	0.56097	U	0.000028	T	0.07728	0.0194	N	0.05230	-0.09	0.80722	D	1	P;P;P;P	0.40681	0.727;0.528;0.528;0.528	B;B;B;B	0.37601	0.254;0.214;0.214;0.214	T	0.11991	-1.0565	10	0.10377	T	0.69	0.0	13.4215	0.61001	0.0:0.0:0.0:1.0	.	264;202;258;258	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	Q	258;202;258	ENSP00000259895:L258Q;ENSP00000442700:L202Q;ENSP00000365493:L258Q	ENSP00000259895:L258Q	L	+	2	0	GTF2H4	30987471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.389000	0.79806	2.050000	0.60909	0.533000	0.62120	CTG		0.498	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		A	30879492	T	A	30879492	3	1	32	1	0	0	0	0	1	0	0	0	6865	1580	55	5	803	5	GTF2H4	6	30879492	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10		30879492	140235575	16	2374											
DDX56	54606	broad.mit.edu	37	chr7	44611269	44611269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttcctcagtctcacAgaccacctgaaactgctgta	9	13	6	13	0	3	2	2	1	2	1	5	2	4	2	3	0	2	2	3	0	2	3			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:44611269A>G	ENST00000258772.5	-	6	818	c.712T>C	c.(712-714)Tgt>Cgt	p.C238R	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.C238R	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	238	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TCAGTCTCACAGACCACCTGA	0.522																																						.											0													81	70	73					7																	44611269		2203	4300	6503	SO:0001583	missense	54606			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.712T>C	7.37:g.44611269A>G	ENSP00000258772:p.Cys238Arg		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.403569	0.83230	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.04119	3.7;3.75	5.82	5.82	0.92795	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	M	0.76938	2.355	0.80722	D	1	D;D	0.69078	0.985;0.997	D;P	0.64237	0.923;0.887	T	0.00391	-1.1769	10	0.41790	T	0.15	-11.8194	14.1208	0.65186	1.0:0.0:0.0:0.0	.	238;238	C9JV95;Q9NY93	.;DDX56_HUMAN	R	238	ENSP00000258772:C238R;ENSP00000393488:C238R	ENSP00000258772:C238R	C	-	1	0	DDX56	44577794	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.718000	0.74713	2.214000	0.71695	0.460000	0.39030	TGT		0.522	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		G	44611269	A	G	44611269	3	3	32	1	0	0	0	0	1	0	0	0	4374	188	7	2	967	2	DDX56	7	44611269	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10		44611269	114527394	17	2375											
ASB4	51666	broad.mit.edu	37	chr7	95166910	95166910	+	Missense_Mutation	SNP	T	T	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	gggatttttaccactctctcTttactgtgtgctgtaactct	6	18	7	10	0	3	0	0	0	3	0	4	1	3	1	1	1	4	2	1	1	3	6			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:95166910T>C	ENST00000325885.5	+	5	1191	c.1120T>C	c.(1120-1122)Ttt>Ctt	p.F374L		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	374	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCACTCTCTCTTTACTGTGTG	0.398																																						.											0													166	156	160					7																	95166910		2203	4300	6503	SO:0001583	missense	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1120T>C	7.37:g.95166910T>C	ENSP00000321388:p.Phe374Leu		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518046	0.64634	.	.	ENSG00000005981	ENST00000325885	T	0.27256	1.68	5.05	5.05	0.67936	.	0.120873	0.64402	D	0.000010	T	0.32436	0.0829	L	0.39514	1.22	0.80722	D	1	P	0.51147	0.942	P	0.51016	0.656	T	0.03221	-1.1059	10	0.46703	T	0.11	-31.2114	15.1364	0.72569	0.0:0.0:0.0:1.0	.	374	Q9Y574	ASB4_HUMAN	L	374	ENSP00000321388:F374L	ENSP00000321388:F374L	F	+	1	0	ASB4	95004846	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.071000	0.71229	2.039000	0.60335	0.533000	0.62120	TTT		0.398	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		C	95166910	T	C	95166910	3	2	32	1	0	0	0	0	1	0	0	0	1025	1609	56	2	1210	2	ASB4	7	95166910	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10	50555641	95166910	63971753	18	2376											
AHCYL2	23382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	129037098	129037098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgctctgggggcccaGtgccgatgggctgcctgcaa	4	8	17	12	1	1	0	0	0	1	0	1	1	1	0	3	4	4	3	3	4	1	0			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr7:129037098G>T	ENST00000325006.3	+	5	810	c.756G>T	c.(754-756)caG>caT	p.Q252H	AHCYL2_ENST00000490911.1_Missense_Mutation_p.Q149H|AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000446544.2_Missense_Mutation_p.Q251H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.Q171H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.Q150H|AHCYL2_ENST00000474594.1_Missense_Mutation_p.Q149H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	252					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGGGGGCCCAGTGCCGATGGG	0.493																																					Pancreas(160;1736 1964 29875 40941 45605)	.											0													97	95	96					7																	129037098		2203	4300	6503	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.756G>T	7.37:g.129037098G>T	ENSP00000315931:p.Gln252His		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.812740|4.812740	0.90707|0.90707	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993|ENST00000466924	T;T;T;T;T;T;T|.	0.77620|.	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.08|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83977|0.83977	0.5371|0.5371	M|M	0.89214|0.89214	3.015|3.015	0.58432|0.58432	D|D	0.999997|0.999997	P;P;P;P;P|.	0.52577|.	0.878;0.878;0.954;0.878;0.943|.	P;P;P;P;P|.	0.57009|.	0.71;0.71;0.811;0.71;0.713|.	D|D	0.86448|0.86448	0.1771|0.1771	10|5	0.87932|.	D|.	0|.	-9.8208|-9.8208	17.8185|17.8185	0.88643|0.88643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	149;150;252;149;251|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	H|I	252;251;171;149;150;149;150|159	ENSP00000315931:Q252H;ENSP00000413639:Q251H;ENSP00000431787:Q171H;ENSP00000420459:Q149H;ENSP00000405267:Q150H;ENSP00000420801:Q149H;ENSP00000419608:Q150H|.	ENSP00000315931:Q252H|.	Q|S	+|+	3|2	2|0	AHCYL2|AHCYL2	128824334|128824334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.386000|5.386000	0.66238|0.66238	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	CAG|AGT		0.493	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			T	129037098	G	T	129037098	3	4	32	1	0	0	0	0	1	0	0	0	411	1020	36	5	896	5	AHCYL2	7	129037098	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	33870188	129037098	30101565	19	2377											
EBF2	64641	broad.mit.edu	37	chr8	25744302	25744302	+	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	aaccttcctggggctcctttGcagaactgtttagatttata	9	15	8	9	0	0	2	0	0	0	2	2	2	2	2	3	2	3	3	3	2	5	7			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:25744302G>T	ENST00000520164.1	-	10	1515	c.978C>A	c.(976-978)tgC>tgA	p.C326*	EBF2_ENST00000408929.3_Nonsense_Mutation_p.C178*|EBF2_ENST00000535548.1_Nonsense_Mutation_p.C57*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	326	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGGCTCCTTTGCAGAACTGTT	0.493																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	.											0													100	96	98					8																	25744302		1860	4106	5966	SO:0001587	stop_gained	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.978C>A	8.37:g.25744302G>T	ENSP00000430241:p.Cys326*		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	41	9.069919	0.99055	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.803	19.5831	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	X	326;178;57	.	ENSP00000386178:C178X	C	-	3	2	EBF2	25800219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.479000	0.66813	2.641000	0.89580	0.563000	0.77884	TGC		0.493	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		T	25744302	G	T	25744302	4	4	32	1	0	0	0	0	0	1	0	0	4881	1311	46	5	777	5	EBF2	8	25744302	Nonsense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		25744302	120619720	20	2378											
RDH10	157506	broad.mit.edu	37	chr8	74235228	74235228	+	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	gtacccctttattgctcaaaGaaagcaagccacaaacaata	17	8	5	11	0	1	1	1	0	0	1	1	1	1	1	3	0	5	3	3	0	8	5			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:74235228G>A	ENST00000240285.5	+	6	1661	c.983G>A	c.(982-984)aGa>aAa	p.R328K	RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.R163K	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	328					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)			ATTGCTCAAAGAAAGCAAGCC	0.383																																						.											0													65	59	61					8																	74235228		2203	4300	6503	SO:0001583	missense	157506			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.983G>A	8.37:g.74235228G>A	ENSP00000240285:p.Arg328Lys			Missense_Mutation	SNP	ENST00000240285.5	37	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600327	0.28534	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.83837	-1.77;0.03	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	N	0.16201	0.385	0.49389	D	0.999784	B	0.18166	0.026	B	0.12837	0.008	T	0.65541	-0.6143	10	0.02654	T	1	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	328	Q8IZV5	RDH10_HUMAN	K	328;163	ENSP00000240285:R328K;ENSP00000428132:R163K	ENSP00000240285:R328K	R	+	2	0	RDH10	74397782	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.743000	0.85020	2.894000	0.99253	0.591000	0.81541	AGA		0.383	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			A	74235228	G	A	74235228	3	1	32	1	0	0	0	0	1	0	0	0	13189	942	33	4	1005	4	RDH10	8	74235228	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	48490926	74235228	72128794	21	2379											
NCALD	83988	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr8	102705065	102705065	+	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	aagatcttttctgttcttttCtctggggttgactcatcttc	5	20	7	9	0	6	2	1	1	5	1	8	2	6	2	0	2	0	2	0	2	1	7			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:102705065C>T	ENST00000311028.3	-	6	816	c.438G>A	c.(436-438)gaG>gaA	p.E146E	NCALD_ENST00000521599.1_Silent_p.E146E|NCALD_ENST00000395923.1_Silent_p.E146E|NCALD_ENST00000519508.2_Silent_p.E146E|NCALD_ENST00000220931.6_Silent_p.E146E|NCALD_ENST00000522951.1_Silent_p.E146E	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	146	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGTTCTTTTCTCTGGGGTTG	0.493																																						.											0													166	155	159					8																	102705065		2203	4300	6503	SO:0001819	synonymous_variant	83988			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"EF-hand domain containing"	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.438G>A	8.37:g.102705065C>T			P29554|Q8IYC3|Q9H0W2	Silent	SNP	ENST00000311028.3	37	CCDS6292.1																																																																																				0.493	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			T	102705065	C	T	102705065	2	4	32	1	0	0	0	0	0	0	0	1	10201	912	32	4		4	NCALD	8	102705065	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10	28469837	102705065	43658957	22	2380											
DPYS	1807	mdanderson.org	37	chr8	105478933	105478933	+	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	gaccgcgagcccatgaagggGaactgcatgtgcgtgtgtgt	8	8	16	9	3	0	1	0	1	0	0	0	4	0	2	2	2	4	1	2	2	2	0	rs2298840	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr8:105478933G>A	ENST00000351513.2	-	1	348	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	72					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCATGAAGGGGAACTGCATGT	0.736													G|||	1160	0.231629	0.2867	0.2133	5008	,	,		9267	0.3085		0.175	False		,,,				2504	0.1493					.											0								G		728,2942		64,600,1171	18	11	14		216	3	1	8	dbSNP_100	14	1026,5972		73,880,2546	no	coding-synonymous	DPYS	NM_001385.2		137,1480,3717	AA,AG,GG		14.6613,19.8365,16.4417		72/520	105478933	1754,8914	1835	3499	5334	SO:0001819	synonymous_variant	1807			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.216C>T	8.37:g.105478933G>A				Silent	SNP	ENST00000351513.2	37	CCDS6302.1																																																																																				0.736	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		A	105478933	G	A	105478933	2	1	32	1	0	0	0	0	0	0	0	1	4746	1165	41	3		3	DPYS	8	105478933	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	2773868	105478933	40885089	23	2381											
PRUNE2	158471	hgsc.bcm.edu	37	chr9	79324154	79324154	+	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	gatgactgttgcagtgactgAggaggaatgtcagtctcctc	9	11	13	8	0	2	3	1	3	1	0	4	6	2	5	1	2	1	2	1	2	1	1			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr9:79324154A>T	ENST00000376718.3	-	8	3159	c.3036T>A	c.(3034-3036)ccT>ccA	p.P1012P	PRUNE2_ENST00000428286.1_Silent_p.P653P	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1012					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						GCAGTGACTGAGGAGGAATGT	0.443																																						.											0													121	94	102					9																	79324154		1568	3582	5150	SO:0001819	synonymous_variant	158471			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.3036T>A	9.37:g.79324154A>T			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	8.946	0.967023	0.18659	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.94	-4.91	0.03085	.	.	.	.	.	T	0.19927	0.0479	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27262	-1.0079	4	.	.	.	-1.3206	4.1748	0.10346	0.1906:0.3724:0.3387:0.0983	.	.	.	.	T	334	.	.	S	-	1	0	PRUNE2	78513974	.	.	0.000000	0.03702	0.268000	0.26511	.	.	-1.189000	0.02702	0.459000	0.35465	TCA		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		T	79324154	A	T	79324154	2	4	32	1	0	0	0	0	0	0	0	1	12641	291	11	5		5	PRUNE2	9	79324154	Silent	SNP	A	TCGA-KM-8477-01A-11D-2310-10		79324154	61889277	24	2382											
PTPN3	5774	broad.mit.edu	37	chr9	112219611	112219612	+	Frame_Shift_Del	DEL	AT	AT	-																															tcatcatgctgtaaaccaaaAtattccttttcagtcacacc																										TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr9:112219611_112219612delAT	ENST00000374541.2	-	3	310_311	c.206_207delAT	c.(205-207)tatfs	p.Y69fs	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTAAACCAAAATATTCCTTTTC	0.401																																						.											0																																										SO:0001589	frameshift_variant	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.206_207delAT	9.37:g.112219613_112219614delAT	ENSP00000363667:p.Tyr69fs		A0AUW9|E7EN99|E9PGU7	Frame_Shift_Del	DEL	ENST00000374541.2	37	CCDS6776.1																																																																																				0.401	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			-	112219612	AT	-	112219611	7	5	32	1	0	1	0	1	0	0	0	0	12789	108	4	0	2630	0	PTPN3	9	112219611	Frame_Shift_Del	DEL	AT	TCGA-KM-8477-01A-11D-2310-10	32895457	112219611	28993820	25	2383	64	2									
PTPN3	5774	bcgsc.ca	37	chr9	112219612	112219613	+	Frame_Shift_Del	DEL	AT	AT	-																															catcatgctgtaaaccaaaaTattccttttcagtcacaccc																										TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr9:112219612_112219613delAT	ENST00000374541.2	-	3	309_310	c.205_206delAT	c.(205-207)attfs	p.I69fs	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAACCAAAATATTCCTTTTCA	0.406																																						.											0																																										SO:0001589	frameshift_variant	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.205_206delAT	9.37:g.112219612_112219613delAT	ENSP00000363667:p.Ile69fs		A0AUW9|E7EN99|E9PGU7	Frame_Shift_Del	DEL	ENST00000374541.2	37	CCDS6776.1																																																																																				0.406	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			-	112219613	AT	-	112219612	7	5	32	1	0	1	0	1	0	0	0	0	12789	1406	49	0	2631	0	PTPN3	9	112219612	Frame_Shift_Del	DEL	AT	TCGA-KM-8477-01A-11D-2310-10	1	112219612	28993819	26	2384	64	2									
C10orf71	118461	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	50533936	50533936	+	Missense_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	ggagggaggacctgacccacGccctcgtgtgggagggcggc	6	4	19	12	3	0	1	0	1	0	0	1	5	0	5	3	6	0	0	3	6	0	0			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:50533936G>A	ENST00000374144.3	+	3	3634	c.3346G>A	c.(3346-3348)Gcc>Acc	p.A1116T	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1116										endometrium(1)	1						CCTGACCCACGCCCTCGTGTG	0.657																																						.											0													19	24	23					10																	50533936		692	1591	2283	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3346G>A	10.37:g.50533936G>A	ENSP00000363259:p.Ala1116Thr		A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284061	0.80803	.	.	ENSG00000177354	ENST00000374144	T	0.04970	3.52	5.38	3.52	0.40303	.	0.647217	0.12708	N	0.445729	T	0.05960	0.0155	L	0.27053	0.805	0.09310	N	0.999991	.	.	.	.	.	.	T	0.39502	-0.9611	8	0.45353	T	0.12	.	5.1637	0.15075	0.2522:0.164:0.5838:0.0	.	.	.	.	T	1116	ENSP00000363259:A1116T	ENSP00000363259:A1116T	A	+	1	0	C10orf71	50203942	0.688000	0.27680	0.115000	0.21578	0.504000	0.33889	1.462000	0.35266	0.651000	0.30788	0.491000	0.48974	GCC		0.657	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50533936	G	A	50533936	3	1	32	1	0	0	0	0	1	0	0	0	1614	1087	38	1	3348	1	C10orf71	10	50533936	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		50533936	85000811	27	2385											
MYPN	84665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	69881358	69881358	+	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	ctggggccgctgaaggaggcGgaggccaagatgaccttcca	9	5	16	11	2	0	3	0	2	0	1	1	5	1	5	4	6	0	1	4	6	2	1			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:69881358G>A	ENST00000358913.5	+	2	651	c.163G>A	c.(163-165)Gga>Aga	p.G55R	MYPN_ENST00000540630.1_Missense_Mutation_p.G55R|MYPN_ENST00000373675.3_Missense_Mutation_p.G55R|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	55	Interaction with CARP.|Poly-Gly.				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						TGAAGGAGGCGGAGGCCAAGA	0.527																																						.											0													54	53	53					10																	69881358		2203	4300	6503	SO:0001583	missense	84665			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.163G>A	10.37:g.69881358G>A	ENSP00000351790:p.Gly55Arg		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	6.927	0.540685	0.13250	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.60920	0.52;0.5;0.15	6.03	5.12	0.69794	.	0.388870	0.27886	N	0.017449	T	0.37999	0.1024	N	0.16478	0.41	0.09310	N	1	B;B	0.21381	0.055;0.033	B;B	0.12156	0.007;0.003	T	0.11060	-1.0603	9	.	.	.	.	11.0662	0.47976	0.0689:0.1304:0.8007:0.0	.	55;55	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	R	55	ENSP00000351790:G55R;ENSP00000441668:G55R;ENSP00000362779:G55R	.	G	+	1	0	MYPN	69551364	0.999000	0.42202	0.999000	0.59377	0.682000	0.39822	3.009000	0.49552	2.861000	0.98227	0.655000	0.94253	GGA		0.527	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		A	69881358	G	A	69881358	3	1	32	1	0	0	0	0	1	0	0	0	10098	1117	39	1	165	1	MYPN	10	69881358	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	19347422	69881358	65653389	28	2386											
TET1	80312	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	70426913	70426913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatggtgtgggatggcAtccctcttccaatggccgac	7	11	11	12	1	3	0	2	0	1	0	5	2	5	1	3	4	0	1	3	4	1	1			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:70426913A>G	ENST00000373644.4	+	7	4782	c.4573A>G	c.(4573-4575)Atc>Gtc	p.I1525V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1525					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						GTGGGATGGCATCCCTCTTCC	0.502																																						.											0													118	97	104					10																	70426913		2203	4300	6503	SO:0001583	missense	80312			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.4573A>G	10.37:g.70426913A>G	ENSP00000362748:p.Ile1525Val		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045305	0.55110	.	.	ENSG00000138336	ENST00000373644	T	0.33654	1.4	5.21	2.83	0.33086	TET cysteine-rich domain (1);	0.062135	0.64402	D	0.000005	T	0.45597	0.1350	L	0.39326	1.205	0.33750	D	0.620563	D	0.63046	0.992	D	0.80764	0.994	T	0.56517	-0.7966	10	0.87932	D	0	.	7.197	0.25858	0.7982:0.0:0.0714:0.1304	.	1525	Q8NFU7	TET1_HUMAN	V	1525	ENSP00000362748:I1525V	ENSP00000362748:I1525V	I	+	1	0	TET1	70096919	1.000000	0.71417	0.527000	0.27925	0.429000	0.31625	4.491000	0.60326	0.366000	0.24427	0.477000	0.44152	ATC		0.502	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70426913	A	G	70426913	3	3	32	1	0	0	0	0	1	0	0	0	15766	217	8	4	4595	4	TET1	10	70426913	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10	545555	70426913	65107834	29	2387											
SEC24C	9632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	75519464	75519464	+	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	cagccctatggccctcccccGacaagtgcacaggtggctac	8	6	10	17	1	0	0	0	0	0	0	1	1	1	0	4	3	3	2	4	3	3	2	rs375764899		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:75519464G>A	ENST00000339365.2	+	5	555	c.393G>A	c.(391-393)ccG>ccA	p.P131P	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_5'UTR|SEC24C_ENST00000546025.1_5'UTR|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.P131P	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	131					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)					GCCCTCCCCCGACAAGTGCAC	0.617																																						.											0								G	,	1,4405	2.1+/-5.4	0,1,2202	52	47	49		393,393	-7.4	0.5	10		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEC24C	NM_004922.3,NM_198597.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	131/1095,131/1095	75519464	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9632			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.393G>A	10.37:g.75519464G>A			B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	CCDS7332.1																																																																																				0.617	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			A	75519464	G	A	75519464	2	1	32	1	0	0	0	0	0	0	0	1	13996	1045	37	1		1	SEC24C	10	75519464	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	5092551	75519464	60015283	30	2388											
PTPRE	5791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	129866455	129866455	+	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	ttcaccagctggcccgacttCggagtgccttttacccccat	6	11	8	16	2	1	0	1	0	0	0	2	2	1	1	5	2	3	1	5	2	1	4			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr10:129866455C>T	ENST00000254667.3	+	12	1191	c.912C>T	c.(910-912)ttC>ttT	p.F304F	PTPRE_ENST00000419012.2_Silent_p.F304F|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.F246F	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	304	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F304F(1)|p.F246F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GGCCCGACTTCGGAGTGCCTT	0.622																																					Colon(52;977 1184 20575 41685)	.											2	Substitution - coding silent(2)	prostate(2)											58	56	57					10																	129866455		2203	4300	6503	SO:0001819	synonymous_variant	5791			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.912C>T	10.37:g.129866455C>T			Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1																																																																																				0.622	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			T	129866455	C	T	129866455	2	4	32	1	0	0	0	0	0	0	0	1	12800	883	31	1		1	PTPRE	10	129866455	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10	54346991	129866455	5668292	31	2389											
SMPD1	6609	ucsc.edu	37	chr11	6411941	6411941	+	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	ttggatgggcctggtgctggCgctggcgctggcgctggcgc	1	9	20	11	4	0	0	0	0	0	0	0	1	0	1	1	7	1	4	1	7	0	1	rs550365194|rs550067660|rs71467507|rs78250081|rs558809956|rs3838786	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:6411941C>T	ENST00000342245.4	+	1	281	c.113C>T	c.(112-114)gCg>gTg	p.A38V	SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_Missense_Mutation_p.A38V|SMPD1_ENST00000356761.2_Missense_Mutation_p.A38V|SMPD1_ENST00000299397.3_Missense_Mutation_p.A38V	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	38					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)	ctggtgctggcgctggcgctg	0.711																																						.											0													11	14	13					11																	6411941		2185	4258	6443	SO:0001583	missense	6609			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.113C>T	11.37:g.6411941C>T	ENSP00000340409:p.Ala38Val		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234305	0.39498	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.54	-1.08	0.09936	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.002;0.005	T	0.47275	-0.9130	9	0.12103	T	0.63	.	6.8659	0.24093	0.0:0.5614:0.262:0.1766	.	38;38	E9PKS3;G3XAB5	.;.	V	38	ENSP00000299397:A38V;ENSP00000349203:A38V;ENSP00000340409:A38V;ENSP00000435350:A38V	ENSP00000299397:A38V	A	+	2	0	SMPD1	6368517	0.000000	0.05858	0.130000	0.21974	0.033000	0.12548	-2.110000	0.01334	-0.479000	0.06813	-1.305000	0.01319	GCG		0.711	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		T	6411941	C	T	6411941	3	4	32	1	0	0	0	0	1	0	0	0	14804	768	27	1	115	1	SMPD1	11	6411941	Missense_Mutation	SNP	C	TCGA-KM-8477-01A-11D-2310-10		6411941	128594575	32	2390											
OR5F1	338674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	55762021	55762021	+	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	atcacaagaaaaaacaaaaaGaggataatctgtagctccag	21	6	7	7	0	2	2	1	0	1	2	3	3	3	3	1	1	2	2	1	1	8	2			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:55762021G>A	ENST00000278409.1	-	1	80	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	27					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)					AAAACAAAAAGAGGATAATCT	0.378																																						.											0													62	62	62					11																	55762021		2201	4296	6497	SO:0001819	synonymous_variant	338674			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.81C>T	11.37:g.55762021G>A			Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	CCDS31515.1																																																																																				0.378	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		A	55762021	G	A	55762021	2	1	32	1	0	0	0	0	0	0	0	1	11158	929	33	4		4	OR5F1	11	55762021	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	49350080	55762021	79244495	33	2391											
FOLR2	2350	hgsc.bcm.edu;mdanderson.org	37	chr11	71932761	71932761	+	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	cttcatgggactgggggtctCctgctcagtctggccctgat	4	12	13	12	0	4	1	2	1	2	0	5	2	4	2	2	4	1	1	2	4	0	1			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:71932761C>T	ENST00000298223.6	+	5	910	c.723C>T	c.(721-723)ctC>ctT	p.L241L	FOLR2_ENST00000454954.2_Silent_p.L200L|FOLR2_ENST00000449475.2_Silent_p.L237L	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)	241					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)	CTGGGGGTCTCCTGCTCAGTC	0.582																																						.											0													63	64	64					11																	71932761		2200	4293	6493	SO:0001819	synonymous_variant	2350			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.723C>T	11.37:g.71932761C>T			Q05CA5|Q6GTE8	Silent	SNP	ENST00000298223.6	37	CCDS8212.1																																																																																				0.582	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		T	71932761	C	T	71932761	2	4	32	1	0	0	0	0	0	0	0	1	5982	842	30	3		3	FOLR2	11	71932761	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10	16170740	71932761	63073755	34	2392											
SORL1	6653	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	121444978	121444978	+	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	atctgtgacctggacacccaGtttcgttgccaggagtctgg	7	11	12	11	1	2	1	0	1	2	0	3	3	2	3	3	3	1	2	3	3	0	2	rs200656084		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr11:121444978G>C	ENST00000260197.7	+	24	3495	c.3366G>C	c.(3364-3366)caG>caC	p.Q1122H	SORL1_ENST00000532694.1_5'Flank|SORL1_ENST00000534286.1_5'Flank|SORL1_ENST00000525532.1_Missense_Mutation_p.Q66H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1122	LDL-receptor class A 2. {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)		TGGACACCCAGTTTCGTTGCC	0.438																																						.											0													224	196	205					11																	121444978		2203	4299	6502	SO:0001583	missense	6653			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.3366G>C	11.37:g.121444978G>C	ENSP00000260197:p.Gln1122His		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.920831	0.73213	.	.	ENSG00000137642	ENST00000260197;ENST00000525532	D;D	0.95821	-3.82;-3.82	5.72	4.81	0.61882	.	0.058304	0.64402	D	0.000001	D	0.96494	0.8856	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	D	0.95860	0.8882	10	0.39692	T	0.17	.	14.7022	0.69164	0.0692:0.0:0.9308:0.0	.	1122	Q92673	SORL_HUMAN	H	1122;66	ENSP00000260197:Q1122H;ENSP00000434634:Q66H	ENSP00000260197:Q1122H	Q	+	3	2	SORL1	120950188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.267000	0.78462	1.419000	0.47118	0.655000	0.94253	CAG		0.438	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		C	121444978	G	C	121444978	3	2	32	1	0	0	0	0	1	0	0	0	14934	1020	36	5	3460	5	SORL1	11	121444978	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	49512217	121444978	13561538	35	2393											
WNT5B	81029	broad.mit.edu;bcgsc.ca	37	chr12	1742019	1742019	+	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	cagttccggcagcggcggtgGaattgcagcacagcggacaa	10	5	15	11	4	0	0	0	0	0	0	1	2	1	2	1	5	4	4	1	5	2	2			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:1742019G>A	ENST00000397196.2	+	3	508	c.276G>A	c.(274-276)tgG>tgA	p.W92*	WNT5B_ENST00000310594.3_Nonsense_Mutation_p.W92*|WNT5B_ENST00000537031.1_Nonsense_Mutation_p.W92*|WNT5B_ENST00000542408.1_Nonsense_Mutation_p.W92*	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	92					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)			AGCGGCGGTGGAATTGCAGCA	0.567																																						.											0													61	62	61					12																	1742019		2203	4300	6503	SO:0001587	stop_gained	81029			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.276G>A	12.37:g.1742019G>A	ENSP00000380379:p.Trp92*		A8K315|D3DUP9|Q96S49|Q9BV04	Nonsense_Mutation	SNP	ENST00000397196.2	37	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	41	8.843801	0.98974	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.931	0.92566	0.0:0.0:1.0:0.0	.	.	.	.	X	92	.	ENSP00000308887:W92X	W	+	3	0	WNT5B	1612280	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.751000	0.98889	2.540000	0.85666	0.644000	0.83932	TGG		0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			A	1742019	G	A	1742019	4	1	32	1	0	0	0	0	0	1	0	0	17389	1183	41	3	282	3	WNT5B	12	1742019	Nonsense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		1742019	132109876	36	2394											
VAMP1	6843	broad.mit.edu	37	chr12	6574085	6574085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccacgatgatggcacagAtggctcccagcatgatcatc	11	8	9	13	1	1	3	1	2	0	1	3	4	2	3	2	2	2	3	2	2	1	1			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:6574085A>G	ENST00000396308.3	-	4	456	c.311T>C	c.(310-312)aTc>aCc	p.I104T	TAPBPL_ENST00000545700.1_Intron|VAMP1_ENST00000361716.3_Missense_Mutation_p.I104T|VAMP1_ENST00000535180.1_Missense_Mutation_p.I104T|VAMP1_ENST00000400911.3_Missense_Mutation_p.I104T|VAMP1_ENST00000544432.1_5'UTR	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	104					neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GATGGCACAGATGGCTCCCAG	0.488																																						.											0													228	197	207					12																	6574085		2203	4300	6503	SO:0001583	missense	6843				CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"Vesicle-associated membrane proteins"	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.311T>C	12.37:g.6574085A>G	ENSP00000379602:p.Ile104Thr		A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Missense_Mutation	SNP	ENST00000396308.3	37	CCDS41740.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020662	0.75275	.	.	ENSG00000139190	ENST00000400911;ENST00000361716;ENST00000535180;ENST00000396308;ENST00000396943	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.73	5.73	0.89815	Synaptobrevin (2);	0.057713	0.64402	D	0.000002	T	0.57902	0.2085	M	0.78456	2.415	0.80722	D	1	P;B;P	0.46512	0.782;0.283;0.879	P;B;P	0.46076	0.503;0.324;0.503	T	0.65364	-0.6186	10	0.87932	D	0	.	16.0174	0.80450	1.0:0.0:0.0:0.0	.	104;104;104	P23763-3;P23763;P23763-2	.;VAMP1_HUMAN;.	T	104	ENSP00000383702:I104T;ENSP00000355122:I104T;ENSP00000444181:I104T;ENSP00000379602:I104T	ENSP00000355122:I104T	I	-	2	0	VAMP1	6444346	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.186000	0.69663	0.533000	0.62120	ATC		0.488	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1			G	6574085	A	G	6574085	3	3	32	1	0	0	0	0	1	0	0	0	17109	333	12	4	82	4	VAMP1	12	6574085	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10	4832066	6574085	127277810	37	2395											
ACCN2	41	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	50472361	50472361	+	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	ccgcatggtgcacatgccagGtcaggcctggggctccgagc	6	6	15	14	2	1	0	1	0	0	0	2	1	2	0	4	5	3	3	4	5	0	0			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr12:50472361G>A	ENST00000447966.2	+	6	1223		c.e6+1		ASIC1_ENST00000228468.4_Splice_Site|ASIC1_ENST00000552438.1_Splice_Site	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						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)	CACATGCCAGGTCAGGCCTGG	0.597																																						.											0													118	118	118					12																	50472361		2203	4300	6503	SO:0001630	splice_region_variant	41			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.994+1G>A	12.37:g.50472361G>A			A3KN86|E5KBL7|P78349|Q96CV2	Splice_Site	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935661	0.73442	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000453327;ENST00000552438	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0278	0.86452	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCN2	48758628	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	9.584000	0.98220	2.414000	0.81942	0.462000	0.41574	.		0.597	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	Intron	A	50472361	G	A	50472361	5	1	32	1	0	0	0	0	0	0	1	0	129	1275	44	3	1013	3	ACCN2	12	50472361	Splice_Site	SNP	G	TCGA-KM-8477-01A-11D-2310-10	43898276	50472361	83379534	38	2396											
SOS2	6655	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	50619875	50619875	+	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	atgatgttcaacccaatgccGaaatacatttaagatcctga	15	11	6	9	1	1	3	1	2	0	1	2	4	2	3	3	0	3	1	3	0	5	4			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr14:50619875G>A	ENST00000216373.5	-	13	2348	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	SOS2_ENST00000543680.1_Missense_Mutation_p.R659W|SOS2_ENST00000555794.1_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	692	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ACCCAATGCCGAAATACATTT	0.313																																						.											0													90	94	93					14																	50619875		2202	4297	6499	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2074C>T	14.37:g.50619875G>A	ENSP00000216373:p.Arg692Trp		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017239	0.93404	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.52754	0.65;0.65	5.96	5.96	0.96718	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.82277	-0.0537	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	659;692	B7ZKT6;Q07890	.;SOS2_HUMAN	W	692;659	ENSP00000216373:R692W;ENSP00000445328:R659W	ENSP00000216373:R692W	R	-	1	2	SOS2	49689625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	CGG		0.313	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			A	50619875	G	A	50619875	3	1	32	1	0	0	0	0	1	0	0	0	14937	1057	37	1	1968	1	SOS2	14	50619875	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		50619875	56729665	39	2397											
HERC2	8924	mdanderson.org	37	chr15	28482158	28482158	+	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	ggtgtgctcattgccaaataCgaagcgtgtaatccgagaag	12	9	12	8	3	1	1	1	0	0	1	2	3	2	1	2	1	4	2	2	1	5	3	rs3881419		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr15:28482158C>G	ENST00000261609.7	-	26	4062	c.3954G>C	c.(3952-3954)tcG>tcC	p.S1318S		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)		TTGCCAAATACGAAGCGTGTA	0.453																																						.											0													106	95	99					15																	28482158		2202	4299	6501	SO:0001819	synonymous_variant	8924			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.3954G>C	15.37:g.28482158C>G				Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.453	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28482158	C	G	28482158	2	3	32	1	0	0	0	0	0	0	0	1	7058	523	19	5		5	HERC2	15	28482158	Silent	SNP	C	TCGA-KM-8477-01A-11D-2310-10		28482158	74049234	40	2398											
UNC13C	440279	broad.mit.edu	37	chr15	54557616	54557616	+	Missense_Mutation	SNP	T	T	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	tagtgatccatatgttacagTtcaagttggaaagaacaaaa	17	11	8	5	0	1	2	1	1	0	1	2	3	2	3	1	1	2	3	1	1	8	5			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr15:54557616T>C	ENST00000260323.11	+	9	3740	c.3740T>C	c.(3739-3741)gTt>gCt	p.V1247A	UNC13C_ENST00000537900.1_Missense_Mutation_p.V1245A|UNC13C_ENST00000545554.1_Missense_Mutation_p.V1247A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1247	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		TATGTTACAGTTCAAGTTGGA	0.328																																						.											0													56	52	53					15																	54557616		1802	4065	5867	SO:0001583	missense	440279			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.3740T>C	15.37:g.54557616T>C	ENSP00000260323:p.Val1247Ala		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241956	0.79912	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.73897	-0.79;-0.79;-0.79	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	L	0.54908	1.71	0.58432	D	0.999993	P;D	0.76494	0.833;0.999	P;D	0.87578	0.83;0.998	T	0.83086	-0.0135	10	0.48119	T	0.1	.	14.2363	0.65929	0.0:0.0:0.0:1.0	.	1247;1247	F5H090;Q8NB66	.;UN13C_HUMAN	A	1247;1247;1245	ENSP00000260323:V1247A;ENSP00000438156:V1247A;ENSP00000442569:V1245A	ENSP00000260323:V1247A	V	+	2	0	UNC13C	52344908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.982000	0.88131	2.011000	0.59026	0.482000	0.46254	GTT		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54557616	T	C	54557616	3	2	32	1	0	0	0	0	1	0	0	0	16983	1725	60	2	3770	2	UNC13C	15	54557616	Missense_Mutation	SNP	T	TCGA-KM-8477-01A-11D-2310-10	26075458	54557616	47973776	41	2399											
HBQ1	3049	mdanderson.org	37	chr16	230578	230578	+	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	tacacgacagaggccctggaAaggtgcggcaggctgggcgc	9	4	17	11	3	0	1	0	0	0	1	0	3	0	2	1	6	2	2	1	6	2	1	rs11863726	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr16:230578A>G	ENST00000199708.2	+	1	127	c.93A>G	c.(91-93)gaA>gaG	p.E31E	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	31					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		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)				AGGCCCTGGAAAGGTGCGGCA	0.736													G|||	1021	0.203874	0.5522	0.1081	5008	,	,		7023	0.004		0.0974	False		,,,				2504	0.1166					.											0								G		1020,2422		86,848,787	2	3	3		93	2.5	1	16	dbSNP_120	3	483,6397		14,455,2971	no	coding-synonymous	HBQ1	NM_005331.4		100,1303,3758	GG,GA,AA		7.0203,29.6339,14.5611		31/143	230578	1503,8819	1721	3440	5161	SO:0001819	synonymous_variant	3049			BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.93A>G	16.37:g.230578A>G			Q13723|Q1W6G5	Silent	SNP	ENST00000199708.2	37	CCDS10400.1																																																																																				0.736	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	NM_005331		G	230578	A	G	230578	2	3	32	1	0	0	0	0	0	0	0	1	6986	11	1	4		4	HBQ1	16	230578	Silent	SNP	A	TCGA-KM-8477-01A-11D-2310-10		230578	90124175	42	2400											
CRAMP1L	57585	ucsc.edu	37	chr16	1706144	1706144	+	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	acggcccggggccaggtgaaAtgcccgcggagcggagctga	8	3	18	12	5	0	2	0	2	0	0	0	4	0	4	3	6	3	1	3	6	1	0			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr16:1706144A>G	ENST00000397412.3	+	10	1485	c.1386A>G	c.(1384-1386)aaA>aaG	p.K462K	CRAMP1L_ENST00000293925.5_Silent_p.K462K|CRAMP1L_ENST00000436138.3_Silent_p.K459K|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	462						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						GCCAGGTGAAATGCCCGCGGA	0.726																																						.											0													8	11	11					16																	1706144		1859	4028	5887	SO:0001819	synonymous_variant	57585			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.1386A>G	16.37:g.1706144A>G			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	CCDS10440.2																																																																																				0.726	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			G	1706144	A	G	1706144	2	3	32	1	0	0	0	0	0	0	0	1	3846	98	4	4		4	CRAMP1L	16	1706144	Silent	SNP	A	TCGA-KM-8477-01A-11D-2310-10	1475566	1706144	88648609	43	2401											
SRRM2	23524	mdanderson.org	37	chr16	2813441	2813441	+	Missense_Mutation	SNP	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	gccaagatacagtcattctgGgtcctcctcaccagatacca	11	9	7	14	0	3	2	2	0	1	2	5	2	5	2	5	1	2	0	5	1	3	3			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr16:2813441G>T	ENST00000301740.8	+	11	3461	c.2912G>T	c.(2911-2913)gGg>gTg	p.G971V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	971	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						AGTCATTCTGGGTCCTCCTCA	0.493																																						.											0													132	131	131					16																	2813441		2198	4300	6498	SO:0001583	missense	23524			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.2912G>T	16.37:g.2813441G>T	ENSP00000301740:p.Gly971Val		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	6.263	0.416561	0.11870	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.24151	1.87	5.61	5.61	0.85477	.	0.171178	0.41294	D	0.000918	T	0.22475	0.0542	L	0.29908	0.895	0.43824	D	0.996394	B	0.19583	0.037	B	0.20384	0.029	T	0.02208	-1.1195	10	0.37606	T	0.19	-3.6856	17.1288	0.86721	0.0:0.0:1.0:0.0	.	971	Q9UQ35	SRRM2_HUMAN	V	971;971;223;936	ENSP00000301740:G971V	ENSP00000301740:G971V	G	+	2	0	SRRM2	2753442	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.416000	0.66417	2.656000	0.90262	0.655000	0.94253	GGG		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2813441	G	T	2813441	3	4	32	1	0	0	0	0	1	0	0	0	15168	1232	43	5	2950	5	SRRM2	16	2813441	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	1107297	2813441	87541312	44	2402											
AMAC1L3	643664	mdanderson.org	37	chr17	7386234	7386234	+	Missense_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	ctgtggcaccttctgacatcGtgggggcaggggttgtgctg	4	11	17	9	1	1	1	0	1	1	0	2	1	1	1	1	5	1	4	1	5	0	2	rs200251320	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr17:7386234G>A	ENST00000412468.2	+	2	1046	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	311	EamA 2.					integral component of membrane (GO:0016021)		p.V311M(1)									TTCTGACATCGTGGGGGCAGG	0.572																																						.											1	Substitution - Missense(1)	skin(1)											119	108	112					17																	7386234		2203	4300	6503	SO:0001583	missense	643664				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.931G>A	17.37:g.7386234G>A	ENSP00000396523:p.Val311Met			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304956	0.01353	.	.	ENSG00000181222	ENST00000412468	T	0.53857	0.6	4.38	3.29	0.37713	.	.	.	.	.	T	0.31670	0.0804	N	0.14661	0.345	0.23581	N	0.997368	B	0.06786	0.001	B	0.04013	0.001	T	0.19516	-1.0303	9	0.13108	T	0.6	-2.3468	9.3381	0.38062	0.911:0.0:0.089:0.0	.	311	P0C7Q6	S35G6_HUMAN	M	311	ENSP00000396523:V311M	ENSP00000396523:V311M	V	+	1	0	SLC35G6	7326958	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	1.343000	0.33930	0.645000	0.30675	-0.383000	0.06682	GTG		0.572	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7386234	G	A	7386234	3	1	32	1	0	0	0	0	1	0	0	0	561	1145	40	1	937	1	AMAC1L3	17	7386234	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		7386234	73808976	45	2403											
MLLT6	4302	broad.mit.edu	37	chr17	36873792	36873793	+	Frame_Shift_Ins	INS	-	-	C																															ggggcccccagggacctcggINSccctgccccgcctcagccgc																										TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr17:36873792_36873793insC	ENST00000325718.7	+	11	1850_1851	c.1759_1760insC	c.(1759-1761)gccfs	p.A587fs	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	587					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGGACCTCGGCCCTGCCCCGC	0.663			T	MLL	AL																																	.		Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	0																																										SO:0001589	frameshift_variant	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1762dupC	17.37:g.36873795_36873795dupC	ENSP00000316426:p.Ala587fs		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Ins	INS	ENST00000325718.7	37	CCDS11327.1																																																																																				0.663	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		C	36873793	-	C	36873792	7	5	32	1	0	1	1	0	0	0	0	0	9630	1203	42	0	1801	0	MLLT6	17	36873792	Frame_Shift_Ins	INS	-	TCGA-KM-8477-01A-11D-2310-10	29487558	36873792	44321418	46	2404											
ZNF136	7695	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	12296934	12296934	+	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	gggtctctgttttagggaaaAaatggaaggaccagaacatt	14	10	12	5	0	1	1	0	0	1	1	2	4	1	4	1	4	1	1	1	4	6	3	rs536989294		TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:12296934A>C	ENST00000343979.4	+	3	276	c.136A>C	c.(136-138)Aaa>Caa	p.K46Q	ZNF136_ENST00000398616.2_5'UTR	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TTTAGGGAAAAAATGGAAGGA	0.343																																						.											0													37	36	36					19																	12296934		2202	4299	6501	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.136A>C	19.37:g.12296934A>C	ENSP00000344162:p.Lys46Gln			Missense_Mutation	SNP	ENST00000343979.4	37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	A	9.230	1.035503	0.19590	.	.	ENSG00000196646	ENST00000425827;ENST00000343979;ENST00000418338	T;T;T	0.44881	1.79;5.69;0.91	1.93	0.672	0.17935	Krueppel-associated box (3);	.	.	.	.	T	0.17874	0.0429	N	0.16066	0.365	0.18873	N	0.999988	B	0.29862	0.259	B	0.19666	0.026	T	0.15178	-1.0446	9	0.18710	T	0.47	.	2.3354	0.04246	0.4933:0.3087:0.198:0.0	.	46	P52737	ZN136_HUMAN	Q	14;46;14	ENSP00000403707:K14Q;ENSP00000344162:K46Q;ENSP00000397176:K14Q	ENSP00000344162:K46Q	K	+	1	0	ZNF136	12157934	0.115000	0.22152	0.003000	0.11579	0.127000	0.20565	2.578000	0.46051	0.888000	0.36160	0.533000	0.62120	AAA		0.343	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		C	12296934	A	C	12296934	3	2	32	1	0	0	0	0	1	0	0	0	17723	15	1	5	146	5	ZNF136	19	12296934	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10		12296934	46832049	47	2405											
F2RL3	9002	mdanderson.org	37	chr19	17000632	17000632	+	Missense_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	tgctgctgatgaacctcgcgGctgctgacctcctgctggcc	4	10	12	15	2	0	3	0	3	0	0	2	3	1	3	4	2	5	5	4	2	1	0	rs773902	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:17000632G>A	ENST00000248076.3	+	2	688	c.358G>A	c.(358-360)Gct>Act	p.A120T	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	120			A -> T (in dbSNP:rs773902). {ECO:0000269|PubMed:9618465, ECO:0000269|PubMed:9716134, ECO:0000269|PubMed:9722561}.		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						GAACCTCGCGGCTGCTGACCT	0.741													G|||	1713	0.342053	0.615	0.2911	5008	,	,		14611	0.2371		0.2058	False		,,,				2504	0.2577					.											0								G	THR/ALA	2354,1990		672,1010,490	11	10	11		358	0.9	0	19	dbSNP_86	11	1691,6781		190,1311,2735	yes	missense	F2RL3	NM_003950.2	58	862,2321,3225	AA,AG,GG		19.9599,45.8103,31.5621	benign	120/386	17000632	4045,8771	2172	4236	6408	SO:0001583	missense	9002			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.358G>A	19.37:g.17000632G>A	ENSP00000248076:p.Ala120Thr		O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	647	0.29624542124542125	263	0.5345528455284553	108	0.2983425414364641	130	0.22727272727272727	146	0.19261213720316622	G	8.642	0.896247	0.17686	0.541897	0.199599	ENSG00000127533	ENST00000248076	T	0.37752	1.18	4.3	0.917	0.19380	GPCR, rhodopsin-like superfamily (1);	0.571113	0.15977	U	0.235519	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.33135	0.399	B	0.40782	0.34	T	0.45920	-0.9228	9	0.36615	T	0.2	.	5.4574	0.16598	0.244:0.0:0.6162:0.1398	rs773902;rs936378;rs58632682;rs773902	120	Q96RI0	PAR4_HUMAN	T	120	ENSP00000248076:A120T	ENSP00000248076:A120T	A	+	1	0	F2RL3	16861632	0.002000	0.14202	0.001000	0.08648	0.142000	0.21351	1.267000	0.33050	0.003000	0.14656	-0.336000	0.08194	GCT		0.741	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			A	17000632	G	A	17000632	3	1	32	1	0	0	0	0	1	0	0	0	5346	1203	42	3	364	3	F2RL3	19	17000632	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10	4703698	17000632	42128351	48	2406											
SLC7A10	56301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	33702229	33702229	+	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	tagcccagcagcttctccccGaaggtctgggtgggcacagt	7	8	13	13	1	2	0	0	0	2	0	3	1	2	0	3	3	3	3	3	3	2	2			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:33702229G>A	ENST00000253188.4	-	7	1064	c.918C>T	c.(916-918)ttC>ttT	p.F306F		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	306					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCTTCTCCCCGAAGGTCTGGG	0.622																																						.											0													60	56	57					19																	33702229		2203	4300	6503	SO:0001819	synonymous_variant	56301			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.918C>T	19.37:g.33702229G>A			B2RE84	Silent	SNP	ENST00000253188.4	37	CCDS12431.1																																																																																				0.622	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		A	33702229	G	A	33702229	2	1	32	1	0	0	0	0	0	0	0	1	14693	1049	37	1		1	SLC7A10	19	33702229	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	16701597	33702229	25426754	49	2407											
CEACAM5	1048	broad.mit.edu	37	chr19	42219764	42219764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggatcctatacgtgccAagcccataactcagacactg	12	9	8	12	1	1	1	1	0	0	1	2	2	2	2	3	1	4	0	3	1	5	4			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr19:42219764A>G	ENST00000221992.6	+	4	1013	c.899A>G	c.(898-900)cAa>cGa	p.Q300R	CEACAM5_ENST00000405816.1_Missense_Mutation_p.Q300R|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.Q300R	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	300	Ig-like 3.				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)		TATACGTGCCAAGCCCATAAC	0.473																																						.											0													128	107	114					19																	42219764		2203	4300	6503	SO:0001583	missense	1048			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.899A>G	19.37:g.42219764A>G	ENSP00000221992:p.Gln300Arg		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	1.424	-0.572155	0.03882	.	.	ENSG00000105388	ENST00000221992;ENST00000405816	T;T	0.10763	2.84;2.84	3.12	0.291	0.15732	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07503	0.0189	N	0.16037	0.36	0.09310	N	1	B;B	0.21688	0.027;0.059	B;B	0.36335	0.161;0.222	T	0.49560	-0.8927	9	0.25106	T	0.35	.	6.413	0.21702	0.5553:0.0:0.0:0.4447	.	300;300	P06731;Q53G30	CEAM5_HUMAN;.	R	300	ENSP00000221992:Q300R;ENSP00000385072:Q300R	ENSP00000221992:Q300R	Q	+	2	0	CEACAM5	46911604	0.000000	0.05858	0.009000	0.14445	0.278000	0.26855	-1.272000	0.02826	-0.559000	0.06110	0.172000	0.16884	CAA		0.473	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		G	42219764	A	G	42219764	3	3	32	1	0	0	0	0	1	0	0	0	3195	130	5	4	913	4	CEACAM5	19	42219764	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10	8517535	42219764	16909219	50	2408											
PAX1	5075	mdanderson.org	37	chr20	21695347	21695347	+	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	cggcccgcggggtgcacgccCagccagcccccaggcccagc	5	1	14	21	4	0	0	0	0	0	0	0	0	0	0	6	4	4	1	6	4	0	0	rs17861061	byFrequency	TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:21695347C>T	ENST00000398485.2	+	5	1565	c.1511C>T	c.(1510-1512)cCa>cTa	p.P504L	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	504			P -> L (in dbSNP:rs17861061). {ECO:0000269|Ref.2}.		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						GGTGCACGCCCAGCCAGCCCC	0.682													C|||	36	0.0071885	8e-04	0.0058	5008	,	,		12098	0		0.0199	False		,,,				2504	0.0112					.											0								C	LEU/PRO	13,4389	19.1+/-41.9	0,13,2188	40	38	38		1511	-6.6	0	20	dbSNP_123	38	162,8436	73.8+/-136.5	3,156,4140	no	missense	PAX1	NM_006192.3	98	3,169,6328	TT,TC,CC		1.8842,0.2953,1.3462	probably-damaging	504/535	21695347	175,12825	2201	4299	6500	SO:0001583	missense	5075				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.1511C>T	20.37:g.21695347C>T	ENSP00000381499:p.Pro504Leu		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	CCDS13146.2	18	0.008241758241758242	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	13	0.017150395778364115	C	4.886	0.164741	0.09287	0.002953	0.018842	ENSG00000125813	ENST00000398485	D	0.97575	-4.44	3.31	-6.62	0.01813	.	.	.	.	.	D	0.84401	0.5464	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78033	-0.2362	9	0.87932	D	0	.	8.4104	0.32640	0.0:0.2143:0.5872:0.1985	rs17861061	504	P15863	PAX1_HUMAN	L	504	ENSP00000381499:P504L	ENSP00000381499:P504L	P	+	2	0	PAX1	21643347	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.001000	0.03690	-1.400000	0.02061	-1.365000	0.01206	CCA		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			T	21695347	C	T	21695347	3	4	32	1	0	0	0	0	1	0	0	0	11478	594	21	4	1529	4	PAX1	20	21695347	Missense_Mutation	SNP	C	TCGA-KM-8477-01A-11D-2310-10		21695347	41330173	51	2409											
CTNNBL1	56259	broad.mit.edu;hgsc.bcm.edu	37	chr20	36470751	36470752	+	Frame_Shift_Ins	INS	-	-	A																															ctctttcaggttgacagactINSaatggagttgcattttaaat																										TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:36470751_36470752insA	ENST00000361383.6	+	13	1439_1440	c.1322_1323insA	c.(1321-1326)ctaatgfs	p.M442fs	CTNNBL1_ENST00000373469.1_Frame_Shift_Ins_p.M190fs|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Frame_Shift_Ins_p.M415fs|CTNNBL1_ENST00000373473.1_Frame_Shift_Ins_p.M255fs	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	442					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTGACAGACTAATGGAGTTGC	0.46																																					Ovarian(184;582 2038 3273 4106 42608)	.											0																																										SO:0001589	frameshift_variant	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1324dupA	20.37:g.36470753_36470753dupA	ENSP00000355050:p.Met442fs		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Frame_Shift_Ins	INS	ENST00000361383.6	37	CCDS13298.1																																																																																				0.46	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		A	36470752	-	A	36470751	7	5	32	1	0	1	1	0	0	0	0	0	4018	1522	53	0	1372	0	CTNNBL1	20	36470751	Frame_Shift_Ins	INS	-	TCGA-KM-8477-01A-11D-2310-10	14775404	36470751	26554769	52	2410	65	2									
CTNNBL1	56259	bcgsc.ca	37	chr20	36470752	36470753	+	Frame_Shift_Ins	INS	-	-	A																															tctttcaggttgacagactaINSatggagttgcattttaaata																										TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:36470752_36470753insA	ENST00000361383.6	+	13	1440_1441	c.1323_1324insA	c.(1324-1326)atgfs	p.M442fs	CTNNBL1_ENST00000373469.1_Frame_Shift_Ins_p.M190fs|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Frame_Shift_Ins_p.M415fs|CTNNBL1_ENST00000373473.1_Frame_Shift_Ins_p.M255fs	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	442					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTGACAGACTAATGGAGTTGCA	0.455																																					Ovarian(184;582 2038 3273 4106 42608)	.											0																																										SO:0001589	frameshift_variant	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1324dupA	20.37:g.36470753_36470753dupA	ENSP00000355050:p.Met442fs		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Frame_Shift_Ins	INS	ENST00000361383.6	37	CCDS13298.1																																																																																				0.455	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		A	36470753	-	A	36470752	7	5	32	1	0	1	1	0	0	0	0	0	4018	349	13	0	1373	0	CTNNBL1	20	36470752	Frame_Shift_Ins	INS	-	TCGA-KM-8477-01A-11D-2310-10	1	36470752	26554768	53	2411	65	2									
NTSR1	4923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	61386087	61386087	+	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	atggtggtcatctcggtcctGaacaccatcatcgccaacaa	11	9	8	13	2	3	1	2	1	1	0	6	1	4	1	3	3	2	0	3	3	3	0			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:61386087G>T	ENST00000370501.3	+	2	1136	c.765G>T	c.(763-765)ctG>ctT	p.L255L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	255					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCTCGGTCCTGAACACCATCA	0.607																																					GBM(37;400 780 6403 19663 35669)	.											0													162	134	144					20																	61386087		2203	4300	6503	SO:0001819	synonymous_variant	4923				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.765G>T	20.37:g.61386087G>T			Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	CCDS13502.1																																																																																				0.607	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			T	61386087	G	T	61386087	2	4	32	1	0	0	0	0	0	0	0	1	10710	1277	45	5		5	NTSR1	20	61386087	Silent	SNP	G	TCGA-KM-8477-01A-11D-2310-10	24915335	61386087	1639433	54	2412											
PRIC285	85441	ucsc.edu	37	chr20	62196705	62196705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtccaggcggcccctgAcctggatggggcccgaggag	7	4	16	14	2	0	1	0	1	0	0	1	4	1	3	5	6	0	0	5	6	0	0			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chr20:62196705A>G	ENST00000467148.1	-	8	3539	c.3470T>C	c.(3469-3471)gTc>gCc	p.V1157A	HELZ2_ENST00000427522.2_Missense_Mutation_p.V588A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1157					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)										GCGGCCCCTGACCTGGATGGG	0.711																																						.											0													9	10	9					20																	62196705		2164	4260	6424	SO:0001583	missense	85441			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.3470T>C	20.37:g.62196705A>G	ENSP00000417401:p.Val1157Ala		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653072	0.29336	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.28069	1.63;1.63	4.63	4.63	0.57726	.	0.946184	0.08776	N	0.895455	T	0.31638	0.0803	L	0.44542	1.39	0.33592	D	0.601212	P;P	0.42692	0.682;0.787	B;B	0.39258	0.218;0.295	T	0.45644	-0.9247	10	0.87932	D	0	-24.4941	14.036	0.64644	1.0:0.0:0.0:0.0	.	1157;588	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	A	588;1157	ENSP00000393257:V588A;ENSP00000417401:V1157A	ENSP00000393257:V588A	V	-	2	0	RP4-697K14.7	61667149	1.000000	0.71417	0.505000	0.27651	0.119000	0.20118	5.905000	0.69893	1.724000	0.51502	0.402000	0.26972	GTC		0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62196705	A	G	62196705	3	3	32	1	0	0	0	0	1	0	0	0	12485	275	10	2	4527	2	PRIC285	20	62196705	Missense_Mutation	SNP	A	TCGA-KM-8477-01A-11D-2310-10	810618	62196705	828815	55	2413											
USP9X	8239	broad.mit.edu	37	chrX	41010226	41010226	+	Missense_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	tcgctttatagaagaacttcGcacaaatgacaaatgggtta	15	11	8	7	2	0	3	0	1	0	2	2	3	0	3	0	1	1	3	0	1	7	5			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chrX:41010226G>T	ENST00000324545.8	+	13	2312	c.1679G>T	c.(1678-1680)cGc>cTc	p.R560L	USP9X_ENST00000378308.2_Missense_Mutation_p.R560L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	560					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGAACTTCGCACAAATGAC	0.338																																					Ovarian(172;1807 2695 35459 49286)	.											0													49	44	46					X																	41010226		2165	4277	6442	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1679G>T	X.37:g.41010226G>T	ENSP00000316357:p.Arg560Leu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281499	0.59758	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02974	4.1;4.09	5.19	5.19	0.71726	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.31664	0.95	0.80722	D	1	P;P	0.48640	0.913;0.858	P;B	0.47044	0.535;0.334	T	0.55952	-0.8059	10	0.37606	T	0.19	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	560;560	Q93008-1;Q93008	.;USP9X_HUMAN	L	560	ENSP00000367558:R560L;ENSP00000316357:R560L	ENSP00000316357:R560L	R	+	2	0	USP9X	40895170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.151000	0.67156	0.468000	0.43344	CGC		0.338	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		T	41010226	G	T	41010226	3	4	32	1	0	0	0	0	1	0	0	0	17087	1087	38	5	1725	5	USP9X	23	41010226	Missense_Mutation	SNP	G	TCGA-KM-8477-01A-11D-2310-10		41010226	114260334	56	2414											
RBM10	8241	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	47041266	47041266	+	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	ggaatcctacagccagtaccGtgagtagccacagcctgtgg	10	7	12	12	1	0	1	0	1	0	0	1	2	1	2	5	2	5	2	5	2	4	3			TCGA-KM-8477-01A-11D-2310-10	TCGA-KM-8477-10A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4ecbfd89-393f-4126-aa1c-951a2c23ef89	685b8712-1fe3-49fc-8f73-a1d25a089282	g.chrX:47041266G>A	ENST00000377604.3	+	15	2435		c.e15+1		RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000329236.7_Splice_Site	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						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						AGCCAGTACCGTGAGTAGCCA	0.592																																					Melanoma(171;120 2705 19495 39241)	.											0													44	39	41					X																	47041266		2203	4300	6503	SO:0001630	splice_region_variant	8241			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.1693+1G>A	X.37:g.47041266G>A			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Splice_Site	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293838	0.60086	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1129	0.53850	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM10	46926210	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.386000	0.66238	2.347000	0.79759	0.525000	0.51046	.		0.592	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	Intron	A	47041266	G	A	47041266	5	1	32	1	0	0	0	0	0	0	1	0	13111	1159	40	1	1748	1	RBM10	23	47041266	Splice_Site	SNP	G	TCGA-KM-8477-01A-11D-2310-10	6031040	47041266	108229294	57	2415											
BMP8A	353500	broad.mit.edu	37	chr1	39987055	39987055	+	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	ctttctgtctcagggcacagCgtggatcctggcctggccgg	4	10	14	13	2	2	0	1	0	2	0	4	1	3	1	3	5	1	1	3	5	0	1			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:39987055C>T	ENST00000331593.5	+	4	1027	c.681C>T	c.(679-681)agC>agT	p.S227S	RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	227					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGGCACAGCGTGGATCCTG	0.672																																						.											0													17	15	16					1																	39987055		1801	3426	5227	SO:0001819	synonymous_variant	353500			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"Bone morphogenetic proteins", "Endogenous ligands"	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.681C>T	1.37:g.39987055C>T			Q5T3A5	Silent	SNP	ENST00000331593.5	37	CCDS437.1																																																																																				0.672	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		T	39987055	C	T	39987055	2	4	33	1	0	0	0	0	0	0	0	1	1466	767	27	1		1	BMP8A	1	39987055	Silent	SNP	C	TCGA-KM-8639-01A-11D-2397-10		39987055	209263566	1	2416											
MYBPHL	343263	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	109840820	109840820	+	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	gattagtaggttcactgtgtCcccaaccttccggatgtagg	8	12	11	10	1	1	0	1	0	0	0	3	2	3	1	4	3	1	3	4	3	4	5			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:109840820C>A	ENST00000357155.1	-	2	254	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	69	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TTCACTGTGTCCCCAACCTTC	0.532																																						.											0													177	156	163					1																	109840820		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.205G>T	1.37:g.109840820C>A	ENSP00000349678:p.Asp69Tyr		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107050	0.94292	.	.	ENSG00000221986	ENST00000357155	T	0.47177	0.85	5.53	5.53	0.82687	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62183	0.2407	M	0.72353	2.195	0.42276	D	0.992075	D;P	0.62365	0.991;0.942	D;P	0.68621	0.959;0.853	T	0.63296	-0.6669	9	0.66056	D	0.02	.	17.004	0.86388	0.0:1.0:0.0:0.0	.	69;69	B7ZME5;A2RUH7	.;MBPHL_HUMAN	Y	69	ENSP00000349678:D69Y	ENSP00000349678:D69Y	D	-	1	0	MYBPHL	109642343	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	7.240000	0.78192	2.882000	0.98803	0.655000	0.94253	GAC		0.532	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		A	109840820	C	A	109840820	3	1	33	1	0	0	0	0	1	0	0	0	10015	855	30	5	887	5	MYBPHL	1	109840820	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	69853765	109840820	139409801	2	2417											
GSTM5	2949	mdanderson.org	37	chr1	110257835	110257836	+	Silent	DNP	CT	CT	TC																															tgcttggacgccttcctaaaCttgaaggacttcatctcccg																								rs386634508|rs67757008|rs78183574|rs61744262	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:110257835_110257836CT>TC	ENST00000256593.3	+	7	598_599	c.540_541CT>TC	c.(538-543)aaCTtg>aaTCtg	p.180_181NL>NL	GSTM5_ENST00000369812.5_Silent_p.199_200NL>NL|GSTM5_ENST00000369813.1_Silent_p.139_140NL>NL|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	180	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTTCCTAAACTTGAAGGACTT	0.48																																						.											0																																										SO:0001819	synonymous_variant	2949			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	Exception_encountered	1.37:g.110257835_110257836delinsTC			A8K0V8|Q6PD78	Silent	DNP	ENST00000256593.3	37	CCDS811.1																																																																																				0.48	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		TC	110257836	CT	TC	110257835	2	4	33	1	0	0	0	0	0	0	0	1	6841	564	20	4		4	GSTM5	1	110257835	Silent	DNP	CT	TCGA-KM-8639-01A-11D-2397-10	417015	110257835	138992786	3	2418											
RNPEP	6051	broad.mit.edu	37	chr1	201969125	201969125	+	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	aaaacccactcaacaagctcCgcgtgaagattgaaccaggt	15	6	8	12	2	1	3	1	2	0	1	2	3	2	3	3	1	4	1	3	1	6	1	rs140770038		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:201969125C>T	ENST00000295640.4	+	6	1229	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	RNPEP_ENST00000367286.3_Missense_Mutation_p.R357C|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	396					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CAACAAGCTCCGCGTGAAGAT	0.567											OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(19;39 479 7473 13131 19462)	.											0													88	77	81					1																	201969125		2203	4300	6503	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1186C>T	1.37:g.201969125C>T	ENSP00000295640:p.Arg396Cys	2125	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615601	0.46631	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.06294	3.95;3.32;3.78	5.21	4.29	0.51040	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.15305	0.0369	L	0.45698	1.435	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.00719	-1.1595	10	0.36615	T	0.2	-16.7858	8.8552	0.35223	0.1475:0.7705:0.0:0.0821	.	404;396	Q7RU04;Q9H4A4	.;AMPB_HUMAN	C	396;357;265	ENSP00000295640:R396C;ENSP00000356255:R357C;ENSP00000389602:R265C	ENSP00000295640:R396C	R	+	1	0	RNPEP	200235748	0.985000	0.35326	0.533000	0.28001	0.993000	0.82548	2.471000	0.45127	2.432000	0.82394	0.491000	0.48974	CGC		0.567	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		T	201969125	C	T	201969125	3	4	33	1	0	0	0	0	1	0	0	0	13509	652	23	1	1208	1	RNPEP	1	201969125	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	91711290	201969125	47281496	4	2419											
OBSCN	84033	broad.mit.edu	37	chr1	228471449	228471449	+	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	acattggccaggcccagtccCgggcccagctcctagtgcaa	8	6	11	16	1	0	0	0	0	0	0	2	0	2	0	5	3	2	2	5	3	2	2	rs376064743		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:228471449C>T	ENST00000422127.1	+	33	9027	c.8983C>T	c.(8983-8985)Cgg>Tgg	p.R2995W	OBSCN_ENST00000359599.6_Missense_Mutation_p.R1842W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2995W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3424W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R114W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R114W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2995	Ig-like 29.				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)				GGCCCAGTCCCGGGCCCAGCT	0.647													c|||	1	0.000199681	8e-04	0	5008	,	,		18543	0		0	False		,,,				2504	0					.											0									TRP/ARG,TRP/ARG	1,4075		0,1,2037	43	49	47		8983,8983	5.6	1	1		47	0,8344		0,0,4172	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	0,1,6209	TT,TC,CC		0.0,0.0245,0.0081	probably-damaging,probably-damaging	2995/7969,2995/6621	228471449	1,12419	2038	4172	6210	SO:0001583	missense	84033			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.8983C>T	1.37:g.228471449C>T	ENSP00000409493:p.Arg2995Trp		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	18.95	3.732170	0.69189	2.45E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315524	0.27447	N	0.019329	T	0.21761	0.0524	M	0.82323	2.585	0.24539	N	0.994075	D;D;D	0.71674	0.998;0.969;0.998	P;P;P	0.56916	0.809;0.533;0.764	T	0.10042	-1.0647	10	0.72032	D	0.01	.	12.695	0.56999	0.2754:0.7246:0.0:0.0	.	2995;2995;2995	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2995;2995;114;114;1842;694;401	ENSP00000284548:R2995W;ENSP00000409493:R2995W;ENSP00000355668:R114W;ENSP00000355670:R114W;ENSP00000352613:R1842W	ENSP00000284548:R2995W	R	+	1	2	OBSCN	226538072	1.000000	0.71417	0.972000	0.41901	0.013000	0.08279	4.607000	0.61133	2.637000	0.89404	0.550000	0.68814	CGG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228471449	C	T	228471449	3	4	33	1	0	0	0	0	1	0	0	0	10812	643	23	1	9109	1	OBSCN	1	228471449	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	26502324	228471449	20779172	5	2420											
SLC4A5	57835	broad.mit.edu;mdanderson.org	37	chr2	74492256	74492256	+	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	atctgtggtaaggagccactGtccaaatccagcagcaccgt	11	8	10	12	1	1	0	0	0	1	0	3	1	3	1	4	2	3	3	4	2	2	1			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:74492256G>C	ENST00000377634.4	-	9	936	c.537C>G	c.(535-537)gaC>gaG	p.D179E	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D179E|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.D179E|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D179E|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D179E|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D115E|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D179E|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D115E					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAGCCACTGTCCAAATCCA	0.617																																						.											0													107	98	101					2																	74492256		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.537C>G	2.37:g.74492256G>C	ENSP00000366861:p.Asp179Glu			Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	1.881	-0.457883	0.04508	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.79	-1.45	0.08828	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.150608	0.64402	N	0.000015	T	0.43478	0.1249	N	0.02213	-0.635	0.25440	N	0.988106	B;B;B;B;B	0.19935	0.004;0.04;0.0;0.022;0.001	B;B;B;B;B	0.28991	0.009;0.078;0.005;0.097;0.012	T	0.47947	-0.9077	10	0.02654	T	1	.	5.4722	0.16676	0.4958:0.1464:0.3579:0.0	.	179;179;115;179;179	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	E	179;179;179;115;179;115;179;179;179;179;63	ENSP00000377587:D179E;ENSP00000251768:D179E;ENSP00000352461:D115E;ENSP00000395804:D179E;ENSP00000351513:D115E;ENSP00000350475:D179E;ENSP00000366859:D179E;ENSP00000366861:D179E;ENSP00000405678:D179E;ENSP00000414162:D63E	ENSP00000251768:D179E	D	-	3	2	SLC4A5	74345764	0.050000	0.20438	0.152000	0.22495	0.983000	0.72400	-0.518000	0.06267	-0.165000	0.10908	0.591000	0.81541	GAC		0.617	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			C	74492256	G	C	74492256	3	2	33	1	0	0	0	0	1	0	0	0	14657	1368	48	5	2968	5	SLC4A5	2	74492256	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		74492256	168707117	6	2421											
PARD3B	117583	broad.mit.edu;hgsc.bcm.edu	37	chr2	206110537	206110538	+	Frame_Shift_Ins	INS	-	-	A																															ggttcactcattggctggacINSaaaaatcgggtaagaaattc																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:206110537_206110538insA	ENST00000406610.2	+	16	2383_2384	c.2176_2177insA	c.(2176-2178)caafs	p.Q726fs	PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.Q726fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.Q726fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.Q664fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.Q726fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	726					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATTGGCTGGACAAAAATCGGGT	0.401																																						.											0																																										SO:0001589	frameshift_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2181dupA	2.37:g.206110542_206110542dupA	ENSP00000385848:p.Gln726fs		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Ins	INS	ENST00000406610.2	37																																																																																					0.401	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		A	206110538	-	A	206110537	7	5	33	1	0	1	1	0	0	0	0	0	11444	479	17	0	2238	0	PARD3B	2	206110537	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	131618281	206110537	37088836	7	2422	66	2									
PARD3B	117583	bcgsc.ca	37	chr2	206110538	206110539	+	Frame_Shift_Ins	INS	-	-	A																															gttcactcattggctggacaINSaaaatcgggtaagaaattcc																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:206110538_206110539insA	ENST00000406610.2	+	16	2384_2385	c.2177_2178insA	c.(2176-2181)caaaaafs	p.QK726fs	PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.QK726fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.QK726fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.QK664fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.QK726fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	726					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTGGCTGGACAAAAATCGGGTA	0.401																																						.											0																																										SO:0001589	frameshift_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2181dupA	2.37:g.206110542_206110542dupA	ENSP00000385848:p.Gln726fs		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Ins	INS	ENST00000406610.2	37																																																																																					0.401	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		A	206110539	-	A	206110538	7	5	33	1	0	1	1	0	0	0	0	0	11444	130	5	0	2239	0	PARD3B	2	206110538	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	1	206110538	37088835	8	2423	66	2									
TRIP12	9320	broad.mit.edu	37	chr2	230650546	230650546	+	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	tcacagactccgcctgtttcAgcagctcctctcggttcaca	7	11	7	16	2	4	1	3	0	1	1	7	1	6	1	3	1	2	4	3	1	0	2			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:230650546A>C	ENST00000283943.5	-	33	4974	c.4796T>G	c.(4795-4797)cTg>cGg	p.L1599R	TRIP12_ENST00000389045.3_Missense_Mutation_p.L1329R|TRIP12_ENST00000389044.4_Missense_Mutation_p.L1647R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1599					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)		CGCCTGTTTCAGCAGCTCCTC	0.463																																						.											0													104	105	104					2																	230650546		2203	4300	6503	SO:0001583	missense	9320			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.4796T>G	2.37:g.230650546A>C	ENSP00000283943:p.Leu1599Arg		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719648	0.89205	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.51817	0.69;0.69;0.69	5.66	5.66	0.87406	HECT (2);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.72576	2.205	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.995	D;D;D	0.78314	0.986;0.991;0.986	T	0.72080	-0.4398	10	0.87932	D	0	.	15.8971	0.79344	1.0:0.0:0.0:0.0	.	1329;1647;1599	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	R	1599;1329;1647	ENSP00000283943:L1599R;ENSP00000373697:L1329R;ENSP00000373696:L1647R	ENSP00000283943:L1599R	L	-	2	0	TRIP12	230358790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.860000	0.92272	2.150000	0.67090	0.477000	0.44152	CTG		0.463	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		C	230650546	A	C	230650546	3	2	33	1	0	0	0	0	1	0	0	0	16553	188	7	5	1218	5	TRIP12	2	230650546	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	24540008	230650546	12548827	9	2424											
NCL	4691	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	232325533	232325533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacaacttttgcagcttTctttcctttggctggtgtag	7	16	10	8	0	1	0	0	0	1	0	2	1	2	1	1	3	4	4	1	3	3	6	rs375808034		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:232325533T>C	ENST00000322723.4	-	4	898	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	220					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)		TTTGCAGCTTTCTTTCCTTTG	0.448																																						.											0								T	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	187	169	175		658	4.3	1	2		175	0,8600		0,0,4300	no	missense	NCL	NM_005381.2	56	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	220/711	232325533	1,13005	2203	4300	6503	SO:0001583	missense	4691				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.658A>G	2.37:g.232325533T>C	ENSP00000318195:p.Lys220Glu		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263223	0.59431	2.27E-4	0.0	ENSG00000115053	ENST00000322723	T	0.40476	1.03	5.46	4.29	0.51040	.	0.232532	0.49916	D	0.000131	T	0.40171	0.1106	M	0.66939	2.045	0.42701	D	0.993619	B	0.29212	0.237	B	0.27887	0.084	T	0.40757	-0.9546	10	0.46703	T	0.11	-14.5577	10.8196	0.46597	0.0:0.0754:0.0:0.9246	.	220	P19338	NUCL_HUMAN	E	220	ENSP00000318195:K220E	ENSP00000318195:K220E	K	-	1	0	NCL	232033777	1.000000	0.71417	0.990000	0.47175	0.908000	0.53690	2.623000	0.46435	2.078000	0.62432	0.524000	0.50904	AAA		0.448	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		C	232325533	T	C	232325533	3	2	33	1	0	0	0	0	1	0	0	0	10226	1792	62	4	1518	4	NCL	2	232325533	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	1674987	232325533	10873840	10	2425											
DNAJC13	23317	bcgsc.ca	37	chr3	132226100	132226100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtgattgtgacaaaacttAtggatcagaatttgtctaca	13	13	10	5	0	2	3	1	2	1	1	2	4	2	4	0	2	2	0	0	2	5	4	rs79953286	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:132226100A>G	ENST00000260818.6	+	43	5266	c.5018A>G	c.(5017-5019)tAt>tGt	p.Y1673C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1673					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						GACAAAACTTATGGATCAGAA	0.318													A|||	121	0.0241613	0.0023	0.0461	5008	,	,		17967	0		0.0586	False		,,,				2504	0.0276					.											0								A	CYS/TYR	60,4346	56.2+/-92.4	0,60,2143	158	161	160		5018	5.8	1	3	dbSNP_131	160	519,8081	146.3+/-201.9	15,489,3796	yes	missense	DNAJC13	NM_015268.3	194	15,549,5939	GG,GA,AA		6.0349,1.3618,4.4518	benign	1673/2244	132226100	579,12427	2203	4300	6503	SO:0001583	missense	23317			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.5018A>G	3.37:g.132226100A>G	ENSP00000260818:p.Tyr1673Cys		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	70	0.03205128205128205	3	0.006097560975609756	16	0.04419889502762431	0	0.0	51	0.06728232189973615	A	13.17	2.156410	0.38119	0.013618	0.060349	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.18502	2.21	5.75	5.75	0.90469	Armadillo-type fold (1);	0.071085	0.64402	D	0.000016	T	0.01661	0.0053	L	0.38175	1.15	0.53688	D	0.999972	D	0.63046	0.992	P	0.49708	0.62	T	0.00130	-1.2014	10	0.54805	T	0.06	.	16.0503	0.80755	1.0:0.0:0.0:0.0	.	1673	O75165	DJC13_HUMAN	C	1673;320	ENSP00000260818:Y1673C	ENSP00000260818:Y1673C	Y	+	2	0	DNAJC13	133708790	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	5.344000	0.65981	2.181000	0.69327	0.477000	0.44152	TAT		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		G	132226100	A	G	132226100	3	3	33	1	0	0	0	0	1	0	0	0	4632	449	16	4	5184	4	DNAJC13	3	132226100	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10		132226100	65796330	11	2426											
OTOL1	131149	broad.mit.edu	37	chr3	161220991	161220991	+	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	caagggagagaagggggagaTgggggagaagggggagatgg	13	2	25	1	0	0	4	0	0	0	4	0	9	0	5	0	8	0	0	0	8	3	0			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:161220991T>G	ENST00000327928.4	+	4	695	c.695T>G	c.(694-696)aTg>aGg	p.M232R		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	232	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						aagggggagatgggggagaag	0.577																																						.											0													4	4	4					3																	161220991		1609	3660	5269	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.695T>G	3.37:g.161220991T>G	ENSP00000330808:p.Met232Arg			Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	t	2.467	-0.322756	0.05350	.	.	ENSG00000182447	ENST00000327928	D	0.93133	-3.17	.	.	.	.	.	.	.	.	T	0.77698	0.4169	N	0.02286	-0.61	0.19300	N	0.999973	.	.	.	.	.	.	T	0.67325	-0.5699	5	0.16896	T	0.51	.	.	.	.	.	232	A6NHN0	OTOL1_HUMAN	R	232	ENSP00000330808:M232R	ENSP00000330808:M232R	M	+	2	0	OTOL1	162703685	0.987000	0.35691	0.850000	0.33497	0.539000	0.34962	0.065000	0.14466	0.000000	0.14550	0.000000	0.15137	ATG		0.577	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		G	161220991	T	G	161220991	3	3	33	1	0	0	0	0	1	0	0	0	11304	1464	51	5	709	5	OTOL1	3	161220991	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	28994891	161220991	36801439	12	2427											
CAMK2N2	94032	broad.mit.edu	37	chr3	183977958	183977959	+	Frame_Shift_Del	DEL	GG	GG	-																															ggcgcgtctacactccggacGgcggcttctcccccatcccc																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:183977958_183977959delGG	ENST00000296238.3	-	2	403_404	c.226_227delCC	c.(226-228)ccgfs	p.P76fs	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			CACTCCGGACGGCGGCTTCTCC	0.767																																						.											0																																										SO:0001589	frameshift_variant	94032			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.226_227delCC	3.37:g.183977958_183977959delGG	ENSP00000296238:p.Pro76fs			Frame_Shift_Del	DEL	ENST00000296238.3	37	CCDS3257.1																																																																																				0.767	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346010.1	NM_033259		-	183977959	GG	-	183977958	7	5	33	1	0	1	0	1	0	0	0	0	2604	1116	39	0	16	0	CAMK2N2	3	183977958	Frame_Shift_Del	DEL	GG	TCGA-KM-8639-01A-11D-2397-10	22756967	183977958	14044472	13	2428											
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu	37	chr4	74012976	74012979	+	Frame_Shift_Del	DEL	TAAC	TAAC	-																															acctgcagctaataagtattTaactaactccaaatgaccct																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	TAAC	TAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:74012976_74012979delTAAC	ENST00000358602.4	-	9	1854_1857	c.1738_1741delGTTA	c.(1738-1743)gttaaafs	p.VK580fs	ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.VK580fs|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.VK467fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	580					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)			AATAAGTATTTAACTAACTCCAAA	0.363																																						.											0																																										SO:0001589	frameshift_variant	26057			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.1738_1741delGTTA	4.37:g.74012980_74012983delTAAC	ENSP00000351416:p.Val580fs		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	CCDS34004.1																																																																																				0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		-	74012979	TAAC	-	74012976	7	5	33	1	0	1	0	1	0	0	0	0	646	1763	61	0	6174	0	ANKRD17	4	74012976	Frame_Shift_Del	DEL	TAAC	TCGA-KM-8639-01A-11D-2397-10		74012976	117141300	14	2429	67	2									
ANKRD17	26057	bcgsc.ca	37	chr4	74012977	74012980	+	Frame_Shift_Del	DEL	TAAC	TAAC	-																															cctgcagctaataagtatttAactaactccaaatgaccctc																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	TAAC	TAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:74012977_74012980delTAAC	ENST00000358602.4	-	9	1853_1856	c.1737_1740delGTTA	c.(1735-1740)ttgttafs	p.LL579fs	ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.LL579fs|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.LL466fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	579					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)			ATAAGTATTTAACTAACTCCAAAT	0.358																																						.											0																																										SO:0001589	frameshift_variant	26057			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.1737_1740delGTTA	4.37:g.74012977_74012980delTAAC	ENSP00000351416:p.Leu579fs		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	CCDS34004.1																																																																																				0.358	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		-	74012980	TAAC	-	74012977	7	5	33	1	0	1	0	1	0	0	0	0	646	349	13	0	6175	0	ANKRD17	4	74012977	Frame_Shift_Del	DEL	TAAC	TCGA-KM-8639-01A-11D-2397-10	1	74012977	117141299	15	2430	67	2									
ABCE1	6059	mdanderson.org;bcgsc.ca	37	chr4	146044692	146044692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacttcatcatggccacctAtctagcggatcgcgtcatcg	8	11	9	13	4	4	1	3	1	1	0	6	2	4	2	2	2	1	0	2	2	2	3			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:146044692A>G	ENST00000296577.4	+	16	2095	c.1580A>G	c.(1579-1581)tAt>tGt	p.Y527C	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	527	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATGGCCACCTATCTAGCGGAT	0.338																																						.											0													71	67	68					4																	146044692		2203	4297	6500	SO:0001583	missense	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1580A>G	4.37:g.146044692A>G	ENSP00000296577:p.Tyr527Cys		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553083	0.86127	.	.	ENSG00000164163	ENST00000296577	D	0.85013	-1.93	5.69	5.69	0.88448	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91002	0.4843	10	0.87932	D	0	-16.4189	16.2484	0.82467	1.0:0.0:0.0:0.0	.	527	P61221	ABCE1_HUMAN	C	527	ENSP00000296577:Y527C	ENSP00000296577:Y527C	Y	+	2	0	ABCE1	146264142	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.201000	0.95017	2.291000	0.77112	0.533000	0.62120	TAT		0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		G	146044692	A	G	146044692	3	3	33	1	0	0	0	0	1	0	0	0	64	449	16	4	1638	4	ABCE1	4	146044692	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	72031715	146044692	45109584	16	2431											
CLPTM1L	81037	hgsc.bcm.edu	37	chr5	1344897	1344897	+	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	atgacccagcaggtgtgcacCacgtagaccacgaacacgcc	12	4	10	15	3	0	2	0	1	0	1	0	3	0	2	4	1	3	3	4	1	2	1			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:1344897C>A	ENST00000320895.5	-	1	317	c.60G>T	c.(58-60)gtG>gtT	p.V20V	CLPTM1L_ENST00000320927.6_Silent_p.V20V	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	20					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)		AGGTGTGCACCACGTAGACCA	0.721																																						.											0													24	22	23					5																	1344897		2188	4293	6481	SO:0001819	synonymous_variant	81037			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.60G>T	5.37:g.1344897C>A			D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	CCDS3862.1																																																																																				0.721	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		A	1344897	C	A	1344897	2	1	33	1	0	0	0	0	0	0	0	1	3555	581	21	5		5	CLPTM1L	5	1344897	Silent	SNP	C	TCGA-KM-8639-01A-11D-2397-10		1344897	179570363	17	2432											
NUDT12	83594	hgsc.bcm.edu	37	chr5	102891744	102891744	+	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	gttgcatttccacaggttggGcaaaacttgtatcgactgtg	9	13	11	8	1	0	0	0	0	0	0	2	1	1	0	1	2	2	5	1	2	3	5			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:102891744G>A	ENST00000230792.2	-	4	948	c.852C>T	c.(850-852)tgC>tgT	p.C284C	NUDT12_ENST00000507423.1_Silent_p.C266C|NUDT12_ENST00000515407.1_5'UTR	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	284					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)		CACAGGTTGGGCAAAACTTGT	0.368																																						.											0													103	100	101					5																	102891744		2202	4300	6502	SO:0001819	synonymous_variant	83594			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.852C>T	5.37:g.102891744G>A			B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																				0.368	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		A	102891744	G	A	102891744	2	1	33	1	0	0	0	0	0	0	0	1	10728	1195	42	3		3	NUDT12	5	102891744	Silent	SNP	G	TCGA-KM-8639-01A-11D-2397-10	101546847	102891744	78023516	18	2433											
FER	2241	mdanderson.org	37	chr5	108133967	108133967	+	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	ttacggttactggaaacagtAaagaaatttatggccctgag	14	11	10	6	1	0	2	0	1	0	1	0	3	0	3	1	3	3	2	1	3	7	5	rs2229085	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:108133967A>G	ENST00000281092.4	+	3	468	c.84A>G	c.(82-84)gtA>gtG	p.V28V	FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_5'UTR|FER_ENST00000536402.1_Silent_p.V28V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	28	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|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)		TGGAAACAGTAAAGAAATTTA	0.363													A|||	891	0.177915	0.2988	0.17	5008	,	,		17170	0.0575		0.167	False		,,,				2504	0.1554				Colon(146;1051 1799 9836 27344 47401)	.											0								A		1242,3162	427.0+/-341.4	179,884,1139	87	90	89		84	1.1	1	5	dbSNP_98	89	1534,7066	288.9+/-299.0	135,1264,2901	no	coding-synonymous	FER	NM_005246.2		314,2148,4040	GG,GA,AA		17.8372,28.2016,21.3473		28/823	108133967	2776,10228	2202	4300	6502	SO:0001819	synonymous_variant	2241			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.84A>G	5.37:g.108133967A>G			B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																				0.363	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		G	108133967	A	G	108133967	2	3	33	1	0	0	0	0	0	0	0	1	5813	349	13	4		4	FER	5	108133967	Silent	SNP	A	TCGA-KM-8639-01A-11D-2397-10	5242223	108133967	72781293	19	2434											
ADAM19	8728	mdanderson.org	37	chr5	156997987	156997987	+	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	gggctgccttcctcacttccTcctgccaatacaagatgcaa	9	10	7	15	0	1	1	1	0	0	1	4	1	4	1	5	1	4	2	5	1	4	3	rs200503236	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:156997987T>C	ENST00000517905.1	-	2	140	c.96A>G	c.(94-96)agA>agG	p.R32R	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Splice_Site_p.R34R|ADAM19_ENST00000257527.4_Splice_Site_p.R32R|AC106801.1_ENST00000518054.1_RNA			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	32				R -> SK (in Ref. 1; AAG50282). {ECO:0000305}.	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)			CCTCACTTCCTCCTGCCAATA	0.498																																						.											0													78	78	78					5																	156997987		2203	4300	6503	SO:0001630	splice_region_variant	8728			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.95-1A>G	5.37:g.156997987T>C			Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37																																																																																					0.498	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	Silent	C	156997987	T	C	156997987	5	2	33	1	0	0	0	0	0	0	1	0	240	1565	54	2	2748	2	ADAM19	5	156997987	Splice_Site	SNP	T	TCGA-KM-8639-01A-11D-2397-10	48864020	156997987	23917273	20	2435											
ADAMTS2	9509	broad.mit.edu	37	chr5	178634608	178634608	+	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	ccagcaggacctcgatgttgTagtcatcgtccgcagcatgc	8	9	11	13	3	1	0	1	0	0	0	4	2	2	1	3	1	3	5	3	1	1	2			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:178634608T>A	ENST00000251582.7	-	4	898	c.797A>T	c.(796-798)tAc>tTc	p.Y266F	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.Y266F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	266	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)		CTCGATGTTGTAGTCATCGTC	0.612																																						.											0													180	148	159					5																	178634608		2203	4300	6503	SO:0001583	missense	9509			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.797A>T	5.37:g.178634608T>A	ENSP00000251582:p.Tyr266Phe			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376184	0.42105	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86497	-2.13;-2.13	5.58	5.58	0.84498	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.293675	0.24341	N	0.039367	T	0.80287	0.4595	L	0.27053	0.805	0.46874	D	0.999233	B;B	0.17268	0.021;0.018	B;B	0.18263	0.013;0.021	T	0.74699	-0.3577	10	0.25751	T	0.34	.	14.9253	0.70871	0.0:0.0:0.0:1.0	.	266;266	O95450-2;O95450	.;ATS2_HUMAN	F	266	ENSP00000251582:Y266F;ENSP00000274609:Y266F	ENSP00000251582:Y266F	Y	-	2	0	ADAMTS2	178567214	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.808000	0.86044	2.126000	0.65437	0.459000	0.35465	TAC		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178634608	T	A	178634608	3	1	33	1	0	0	0	0	1	0	0	0	265	1638	57	5	2989	5	ADAMTS2	5	178634608	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	21636621	178634608	2280652	21	2436											
HLA-DRB5	3127	mdanderson.org	37	chr6	32487353	32487353	+	Missense_Mutation	SNP	T	T	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	tgctgcctggatagaaaccaTtcacagagcagaccaggagg	13	6	12	10	0	1	3	1	0	0	3	1	5	1	5	3	3	4	2	3	3	2	2	rs114293611	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr6:32487353T>C	ENST00000374975.3	-	3	508	c.446A>G	c.(445-447)aAt>aGt	p.N149S		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.N149S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ATAGAAACCATTCACAGAGCA	0.537													T|||	2089	0.417133	0.559	0.415	5008	,	,		9822	0.3304		0.4414	False		,,,				2504	0.2914					.											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						T	SER/ASN	1237,2619		353,531,1044	42	53	49		446	-9.4	0	6	dbSNP_132	49	2078,6142		542,994,2574	no	missense	HLA-DRB5	NM_002125.3	46	895,1525,3618	CC,CT,TT		25.2798,32.0799,27.4511	benign	149/267	32487353	3315,8761	1928	4110	6038	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.446A>G	6.37:g.32487353T>C	ENSP00000364114:p.Asn149Ser			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1029	0.47115384615384615	246	0.5	177	0.4889502762430939	256	0.44755244755244755	350	0.46174142480211083	.	0.054	-1.240602	0.01493	0.320799	0.252798	ENSG00000198502	ENST00000374975	T	0.02606	4.23	4.69	-9.39	0.00619	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.532611	0.22458	N	0.059800	T	0.00210	0.0006	N	0.01242	-0.935	0.80722	P	0.0	B;B	0.10296	0.0;0.003	B;B	0.13407	0.009;0.005	T	0.39643	-0.9604	9	0.12766	T	0.61	.	3.7772	0.08665	0.0982:0.418:0.1992:0.2846	.	76;149	Q29973;Q30154	.;DRB5_HUMAN	S	149	ENSP00000364114:N149S	ENSP00000364114:N149S	N	-	2	0	HLA-DRB5	32595331	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.167000	0.03126	-1.562000	0.01682	-1.365000	0.01206	AAT		0.537	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32487353	T	C	32487353	3	2	33	1	0	0	0	0	1	0	0	0	7209	1493	52	4	370	4	HLA-DRB5	6	32487353	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10		32487353	138627714	22	2437											
TREML2	79865	mdanderson.org	37	chr6	41165977	41165977	+	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	ttgaccaccttggcctgggcAtcgtcctgcagcaagtagcg	7	9	12	13	2	0	1	0	1	0	0	2	1	1	1	4	2	3	4	4	2	2	3	rs41273770	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr6:41165977A>G	ENST00000483722.1	-	2	431	c.246T>C	c.(244-246)gaT>gaC	p.D82D		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	82	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)					TGGCCTGGGCATCGTCCTGCA	0.592													A|||	90	0.0179712	8e-04	0.0389	5008	,	,		22599	0.001		0.0318	False		,,,				2504	0.0297					.											0								A		31,4375		0,31,2172	132	116	121		246	0.6	0.2	6	dbSNP_127	121	365,8235		3,359,3938	no	coding-synonymous	TREML2	NM_024807.2		3,390,6110	GG,GA,AA		4.2442,0.7036,3.0447		82/322	41165977	396,12610	2203	4300	6503	SO:0001819	synonymous_variant	79865			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.246T>C	6.37:g.41165977A>G			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.592	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		G	41165977	A	G	41165977	2	3	33	1	0	0	0	0	0	0	0	1	16470	214	8	4		4	TREML2	6	41165977	Silent	SNP	A	TCGA-KM-8639-01A-11D-2397-10	8678624	41165977	129949090	23	2438											
INTS1	26173	bcgsc.ca	37	chr7	1513878	1513878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggaacacgtgcggctGcagcagctccagcaggccca	8	4	14	15	3	0	0	0	0	0	0	1	1	1	1	2	3	7	6	2	3	1	0			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:1513878G>T	ENST00000404767.3	-	41	5840	c.5755C>A	c.(5755-5757)Cag>Aag	p.Q1919K	INTS1_ENST00000389470.4_Missense_Mutation_p.Q2123K	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1919					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)		ACGTGCGGCTGCAGCAGCTCC	0.692											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													19	26	24					7																	1513878		2102	4209	6311	SO:0001583	missense	26173			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.5755C>A	7.37:g.1513878G>T	ENSP00000385722:p.Gln1919Lys	596	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801455	0.70682	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66815	-0.23;-0.23	4.5	4.5	0.54988	.	0.109676	0.64402	D	0.000004	T	0.63236	0.2494	M	0.68952	2.095	0.54753	D	0.999987	P	0.39116	0.66	B	0.31101	0.124	T	0.71718	-0.4508	10	0.62326	D	0.03	.	17.368	0.87368	0.0:0.0:1.0:0.0	.	1919	Q8N201	INT1_HUMAN	K	1919;2123	ENSP00000385722:Q1919K;ENSP00000374121:Q2123K	ENSP00000374121:Q2123K	Q	-	1	0	INTS1	1480404	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.165000	0.94761	2.351000	0.79841	0.561000	0.74099	CAG		0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			T	1513878	G	T	1513878	3	4	33	1	0	0	0	0	1	0	0	0	7775	1328	46	5	849	5	INTS1	7	1513878	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		1513878	157624785	24	2439											
CDK13	8621	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	40132819	40132819	+	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	actcaggccacctccagaacCtagcactccggtgtcgggta	9	7	10	15	2	1	1	1	0	0	1	4	1	3	1	5	3	2	2	5	3	3	2			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:40132819C>G	ENST00000181839.4	+	13	4276	c.3671C>G	c.(3670-3672)cCt>cGt	p.P1224R	CDK13_ENST00000340829.5_Missense_Mutation_p.P1164R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1224					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						CCTCCAGAACCTAGCACTCCG	0.453																																						.											0													56	48	51					7																	40132819		2203	4299	6502	SO:0001583	missense	8621			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.3671C>G	7.37:g.40132819C>G	ENSP00000181839:p.Pro1224Arg		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277727	0.80692	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.56444	0.46;0.46	5.68	5.68	0.88126	.	.	.	.	.	T	0.69975	0.3171	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.65212	-0.6223	8	.	.	.	-11.1096	20.1615	0.98135	0.0:1.0:0.0:0.0	.	1164;1224	Q14004-2;Q14004	.;CDK13_HUMAN	R	1224;1164	ENSP00000181839:P1224R;ENSP00000340557:P1164R	.	P	+	2	0	CDK13	40099344	1.000000	0.71417	0.991000	0.47740	0.666000	0.39218	4.707000	0.61852	2.835000	0.97688	0.650000	0.86243	CCT		0.453	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		G	40132819	C	G	40132819	3	3	33	1	0	0	0	0	1	0	0	0	3129	681	24	5	3721	5	CDK13	7	40132819	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	38618941	40132819	119005844	25	2440											
CNOT4	4850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	135079031	135079031	+	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	ggttggtcttgaacggacagTtccttctcaatcaggtctgc	7	13	11	10	1	4	1	2	1	3	0	6	2	5	2	1	4	2	2	1	4	2	4			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:135079031T>C	ENST00000315544.5	-	10	1545	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	CNOT4_ENST00000423368.2_Silent_p.E422E|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000428680.2_Silent_p.E419E|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000541284.1_Silent_p.E422E|CNOT4_ENST00000361528.4_Silent_p.E419E|CNOT4_ENST00000451834.1_Silent_p.E419E	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	422					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAACGGACAGTTCCTTCTCAA	0.488																																					Ovarian(51;766 1130 5502 35047 50875)	.											0													134	135	134					7																	135079031		1979	4155	6134	SO:0001819	synonymous_variant	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1266A>G	7.37:g.135079031T>C			B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	CCDS55166.1																																																																																				0.488	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		C	135079031	T	C	135079031	2	2	33	1	0	0	0	0	0	0	0	1	3621	1722	60	2		2	CNOT4	7	135079031	Silent	SNP	T	TCGA-KM-8639-01A-11D-2397-10	94946212	135079031	24059632	26	2441											
ANXA13	312	bcgsc.ca	37	chr8	124710664	124710664	+	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	gcacaggacctcaatgaggaCggactcatctgtgcccagac	11	6	11	13	1	3	2	2	1	1	1	3	5	3	5	2	3	1	1	2	3	1	0	rs6995099	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr8:124710664C>T	ENST00000419625.1	-	4	394	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	ANXA13_ENST00000262219.6_Missense_Mutation_p.V149I	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	108			V -> I (in dbSNP:rs6995099).		cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAATGAGGACGGACTCATCT	0.597													C|||	257	0.0513179	0.0643	0.062	5008	,	,		19912	0.005		0.0845	False		,,,				2504	0.0399					.											0								C	ILE/VAL,ILE/VAL	313,4093	170.1+/-200.6	14,285,1904	108	98	102		445,322	-2.2	0	8	dbSNP_116	102	640,7960	163.6+/-216.1	20,600,3680	yes	missense,missense	ANXA13	NM_001003954.1,NM_004306.2	29,29	34,885,5584	TT,TC,CC		7.4419,7.1039,7.3274	benign,benign	149/358,108/317	124710664	953,12053	2203	4300	6503	SO:0001583	missense	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.322G>A	8.37:g.124710664C>T	ENSP00000390809:p.Val108Ile		Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	CCDS47917.1	129	0.059065934065934064	39	0.07926829268292683	24	0.06629834254143646	1	0.0017482517482517483	65	0.08575197889182058	C	13.11	2.138053	0.37728	0.071039	0.074419	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.03635	3.86;3.86;3.86	5.67	-2.2	0.06994	Annexin repeat, conserved site (1);	0.422095	0.27956	N	0.017164	T	0.00144	0.0004	M	0.63208	1.945	0.53005	P	3.100000000000325E-5	P;P	0.37731	0.607;0.553	B;B	0.33690	0.168;0.105	T	0.34625	-0.9821	9	0.48119	T	0.1	.	0.8559	0.01182	0.2909:0.2147:0.2937:0.2007	rs6995099;rs52822457;rs59748842;rs6995099	108;149	P27216;P27216-2	ANX13_HUMAN;.	I	149;108;79	ENSP00000262219:V149I;ENSP00000390809:V108I;ENSP00000429358:V79I	ENSP00000262219:V149I	V	-	1	0	ANXA13	124779845	0.021000	0.18746	0.014000	0.15608	0.633000	0.38033	0.327000	0.19663	-0.417000	0.07461	-0.291000	0.09656	GTC		0.597	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		T	124710664	C	T	124710664	3	4	33	1	0	0	0	0	1	0	0	0	717	536	19	1	660	1	ANXA13	8	124710664	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10		124710664	21653358	27	2442											
RMI1	80010	bcgsc.ca	37	chr9	86616443	86616443	+	Missense_Mutation	SNP	T	T	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	tttccgtcttggtgttctctTattgaaaccagaaaacgtga	10	15	8	8	2	2	3	0	2	2	1	4	3	3	3	2	1	2	1	2	1	4	5	rs200956667		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:86616443T>C	ENST00000325875.3	+	3	874	c.542T>C	c.(541-543)tTa>tCa	p.L181S		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	181					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GGTGTTCTCTTATTGAAACCA	0.358																																						.											0								T	SER/LEU	1,4405	2.1+/-5.4	0,1,2202	68	71	70		542	5.8	1	9		70	3,8597	2.2+/-6.3	0,3,4297	yes	missense	RMI1	NM_024945.2	145	0,4,6499	CC,CT,TT		0.0349,0.0227,0.0308	probably-damaging	181/626	86616443	4,13002	2203	4300	6503	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.542T>C	9.37:g.86616443T>C	ENSP00000317039:p.Leu181Ser		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512493	0.64522	2.27E-4	3.49E-4	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.61859	0.07;0.64	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	D	0.82393	0.5027	M	0.93375	3.41	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.87110	0.2184	10	0.87932	D	0	-7.9991	16.3668	0.83335	0.0:0.0:0.0:1.0	.	181	Q9H9A7	RMI1_HUMAN	S	181	ENSP00000402433:L181S;ENSP00000317039:L181S	ENSP00000317039:L181S	L	+	2	0	RMI1	85806263	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.994000	0.63901	2.322000	0.78497	0.528000	0.53228	TTA		0.358	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		C	86616443	T	C	86616443	3	2	33	1	0	0	0	0	1	0	0	0	13395	1764	61	4	544	4	RMI1	9	86616443	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10		86616443	54596988	28	2443											
TSC1	7248	broad.mit.edu;hgsc.bcm.edu	37	chr9	135779084	135779093	+	Frame_Shift_Del	DEL	CGGAGGAGCC	CGGAGGAGCC	-																															ctgctgctttgatcaccttgCggaggagccgcctgttccgg																								rs397514803		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CGGAGGAGCC	CGGAGGAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:135779084_135779093delCGGAGGAGCC	ENST00000298552.3	-	17	2374_2383	c.2153_2162delGGCTCCTCCG	c.(2152-2163)cggctcctccgcfs	p.RLLR718fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.RLLR667fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.RLLR718fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	718					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.R721fs*9(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GATCACCTTGCGGAGGAGCCGCCTGTTCCG	0.533			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	2	Unknown(1)|Deletion - Frameshift(1)	ovary(1)|bone(1)																																								SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2153_2162delGGCTCCTCCG	9.37:g.135779084_135779093delCGGAGGAGCC	ENSP00000298552:p.Arg718fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.533	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135779093	CGGAGGAGCC	-	135779084	7	5	33	1	0	1	0	1	0	0	0	0	16602	768	27	0	1360	0	TSC1	9	135779084	Frame_Shift_Del	DEL	CGGAGGAGCC	TCGA-KM-8639-01A-11D-2397-10	49162641	135779084	5434347	29	2444	68	2									
TSC1	7248	bcgsc.ca	37	chr9	135779085	135779094	+	Frame_Shift_Del	DEL	CGGAGGAGCC	CGGAGGAGCC	-																															tgctgctttgatcaccttgcGgaggagccgcctgttccgga																								rs397514803|rs118203651		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CGGAGGAGCC	CGGAGGAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:135779085_135779094delCGGAGGAGCC	ENST00000298552.3	-	17	2373_2382	c.2152_2161delGGCTCCTCCG	c.(2152-2163)ggctcctccggcfs	p.GSSG718fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.GSSG667fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.GSSG718fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	718					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATCACCTTGCGGAGGAGCCGCCTGTTCCGG	0.533			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2152_2161delGGCTCCTCCG	9.37:g.135779085_135779094delCGGAGGAGCC	ENSP00000298552:p.Gly718fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.533	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135779094	CGGAGGAGCC	-	135779085	7	5	33	1	0	1	0	1	0	0	0	0	16602	1116	39	0	1361	0	TSC1	9	135779085	Frame_Shift_Del	DEL	CGGAGGAGCC	TCGA-KM-8639-01A-11D-2397-10	1	135779085	5434346	30	2445	68	2									
GPR158	57512	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr10	25464834	25464834	+	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	ttggtaccaggcgctggtgtGgagccttctggagggcgagc	5	9	18	9	2	1	0	0	0	1	0	1	3	1	2	2	6	3	2	2	6	1	3			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:25464834G>A	ENST00000376351.3	+	1	844	c.485G>A	c.(484-486)tGg>tAg	p.W162*	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	162					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						GCGCTGGTGTGGAGCCTTCTG	0.632																																						.											0													70	67	68					10																	25464834		2203	4300	6503	SO:0001587	stop_gained	57512			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.485G>A	10.37:g.25464834G>A	ENSP00000365529:p.Trp162*		Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.370902	0.98241	.	.	ENSG00000151025	ENST00000376351	.	.	.	4.82	4.82	0.62117	.	0.314786	0.25961	N	0.027193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.5502	0.50716	0.0817:0.0:0.9183:0.0	.	.	.	.	X	162	.	ENSP00000365529:W162X	W	+	2	0	GPR158	25504840	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	3.011000	0.49567	2.510000	0.84645	0.467000	0.42956	TGG		0.632	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		A	25464834	G	A	25464834	4	1	33	1	0	0	0	0	0	1	0	0	6663	1357	47	4	487	4	GPR158	10	25464834	Nonsense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		25464834	110069913	31	2446											
ZNF33A	7581	bcgsc.ca	37	chr10	38344700	38344700	+	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	atcagagaacacacacagggCagaaaccctttgcatgtccc	14	6	8	13	0	1	2	1	0	0	2	2	3	2	2	2	1	3	2	2	1	2	1	rs2505232	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:38344700C>G	ENST00000458705.2	+	5	1803	c.1645C>G	c.(1645-1647)Cag>Gag	p.Q549E	ZNF33A_ENST00000374618.3_Missense_Mutation_p.Q550E|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.Q556E|ZNF33A_ENST00000307441.9_Missense_Mutation_p.Q549E			Q06730	ZN33A_HUMAN	zinc finger protein 33A	549			Q -> E (in dbSNP:rs2505232). {ECO:0000269|PubMed:14702039}.		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						ACACACAGGGCAGAAACCCTT	0.433													G|||	2389	0.477037	0.5272	0.5173	5008	,	,		19110	0.5754		0.493	False		,,,				2504	0.2628					.											0								G	GLU/GLN,GLU/GLN	2268,2138	579.8+/-385.0	553,1162,488	100	102	102		1648,1645	1.7	1	10	dbSNP_100	102	4103,4497	591.5+/-392.8	963,2177,1160	no	missense,missense	ZNF33A	NM_006954.1,NM_006974.2	29,29	1516,3339,1648	GG,GC,CC		47.7093,48.5247,48.9851	benign,benign	550/812,549/811	38344700	6371,6635	2203	4300	6503	SO:0001583	missense	7581			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.1645C>G	10.37:g.38344700C>G	ENSP00000387713:p.Gln549Glu		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	1117	0.5114468864468864	241	0.4898373983739837	181	0.5	314	0.548951048951049	381	0.5026385224274407	G	0.003	-2.414126	0.00191	0.514753	0.477093	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	1.68	1.68	0.24146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36591	N	0.002514	T	0.00012	0.0000	N	0.00783	-1.19	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43572	-0.9383	9	0.02654	T	1	.	7.6052	0.28097	0.0:0.2686:0.7313:0.0	rs2505232;rs17609186;rs59756517;rs2505232	556;549;550	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	E	550;556;549;549	ENSP00000363747:Q550E;ENSP00000402467:Q556E;ENSP00000387713:Q549E;ENSP00000304268:Q549E	ENSP00000304268:Q549E	Q	+	1	0	ZNF33A	38384706	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	4.342000	0.59341	0.044000	0.15775	-0.676000	0.03789	CAG		0.433	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		G	38344700	C	G	38344700	3	3	33	1	0	0	0	0	1	0	0	0	17851	711	25	5	1662	5	ZNF33A	10	38344700	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	12879866	38344700	97190047	32	2447											
SEC23IP	11196	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	121652313	121652313	+	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	ccatggccgagagaaaacctAacggtggcagcggcggcgcc	10	3	15	13	5	0	1	0	0	0	1	0	3	0	1	4	5	3	1	4	5	3	1			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:121652313A>C	ENST00000369075.3	+	1	91	c.19A>C	c.(19-21)Aac>Cac	p.N7H	SEC23IP_ENST00000543134.1_5'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	7	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GAGAAAACCTAACGGTGGCAG	0.612																																						.											0													38	35	36					10																	121652313		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.19A>C	10.37:g.121652313A>C	ENSP00000358071:p.Asn7His		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352138	0.61183	.	.	ENSG00000107651	ENST00000369075	D	0.97209	-4.29	5.5	5.5	0.81552	.	0.123358	0.64402	D	0.000001	D	0.97148	0.9068	M	0.63843	1.955	0.80722	D	1	D	0.64830	0.994	P	0.57371	0.819	D	0.97201	0.9864	10	0.87932	D	0	-14.952	10.3789	0.44099	0.8533:0.0:0.0:0.1466	.	7	Q9Y6Y8	S23IP_HUMAN	H	7	ENSP00000358071:N7H	ENSP00000358071:N7H	N	+	1	0	SEC23IP	121642303	0.942000	0.31987	0.943000	0.38184	0.268000	0.26511	2.234000	0.43035	2.090000	0.63153	0.460000	0.39030	AAC		0.612	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			C	121652313	A	C	121652313	3	2	33	1	0	0	0	0	1	0	0	0	13993	362	13	5	21	5	SEC23IP	10	121652313	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	83307613	121652313	13882434	33	2448											
TRIM22	10346	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	5717467	5717467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggagcagtgcaatggAtttctcagtaaaggtagaca	14	8	12	7	0	1	1	1	0	1	1	2	3	1	3	1	3	2	4	1	3	5	3			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:5717467A>G	ENST00000379965.3	+	2	282	c.5A>G	c.(4-6)gAt>gGt	p.D2G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	2					defense response to virus (GO:0051607)|immune response (GO:0006955)|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 trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGTGCAATGGATTTCTCAGTA	0.507																																					GBM(104;491 2336 5222)	.											0													73	79	77					11																	5717467		2201	4297	6498	SO:0001583	missense	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.5A>G	11.37:g.5717467A>G	ENSP00000369299:p.Asp2Gly		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867032	0.32977	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641;ENST00000455293	T;T;T;T	0.72835	-0.23;-0.51;-0.16;-0.69	4.24	0.943	0.19531	.	.	.	.	.	T	0.49847	0.1581	N	0.11201	0.11	0.23559	N	0.99741	P;B;B	0.34662	0.462;0.053;0.113	B;B;B	0.31946	0.045;0.138;0.05	T	0.39683	-0.9602	9	0.72032	D	0.01	.	10.8196	0.46597	0.5695:0.4305:0.0:0.0	.	2;2;2	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	G	2	ENSP00000369299:D2G;ENSP00000400417:D2G;ENSP00000393250:D2G;ENSP00000396849:D2G	ENSP00000369299:D2G	D	+	2	0	TRIM22	5674043	0.005000	0.15991	0.241000	0.24154	0.214000	0.24535	-0.085000	0.11250	0.050000	0.15949	0.383000	0.25322	GAT		0.507	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		G	5717467	A	G	5717467	3	3	33	1	0	0	0	0	1	0	0	0	16493	333	12	4	7	4	TRIM22	11	5717467	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10		5717467	129289049	34	2449											
PACS1	55690	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	66008957	66008957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggactactggctgggccAccccggggagcggaggaggg	6	4	21	10	2	0	0	0	0	0	0	0	4	0	4	3	9	2	1	3	9	1	1			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:66008957A>G	ENST00000320580.4	+	22	2522	c.2489A>G	c.(2488-2490)cAc>cGc	p.H830R	PACS1_ENST00000524815.1_5'UTR|PACS1_ENST00000529757.1_Missense_Mutation_p.H366R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	830					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						TGGCTGGGCCACCCCGGGGAG	0.617																																						.											0													47	35	39					11																	66008957		2200	4295	6495	SO:0001583	missense	55690			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.2489A>G	11.37:g.66008957A>G	ENSP00000316454:p.His830Arg		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180267	0.38511	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.40756	1.02;1.02	5.42	5.42	0.78866	.	0.318327	0.36703	N	0.002442	T	0.22282	0.0537	N	0.05078	-0.115	0.80722	D	1	B	0.25441	0.126	B	0.25614	0.062	T	0.12708	-1.0537	10	0.15066	T	0.55	-27.2436	13.2975	0.60305	1.0:0.0:0.0:0.0	.	830	Q6VY07	PACS1_HUMAN	R	830;366	ENSP00000316454:H830R;ENSP00000432858:H366R	ENSP00000316454:H830R	H	+	2	0	PACS1	65765533	0.257000	0.24022	1.000000	0.80357	0.979000	0.70002	1.621000	0.36986	2.196000	0.70406	0.533000	0.62120	CAC		0.617	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		G	66008957	A	G	66008957	3	3	33	1	0	0	0	0	1	0	0	0	11372	159	6	2	2575	2	PACS1	11	66008957	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	60291490	66008957	68997559	35	2450											
RBM14	10432	broad.mit.edu	37	chr11	66384364	66384365	+	Frame_Shift_Ins	INS	-	-	T																															atcgaagccctgcacggccaINScgagctgcggccggggcgcg																								rs543247447		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:66384364_66384365insT	ENST00000310137.4	+	1	312_313	c.173_174insT	c.(172-177)cacgagfs	p.E59fs	RBM14-RBM4_ENST00000500635.2_Frame_Shift_Ins_p.E59fs|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000409372.1_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000409738.4_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000443702.1_Frame_Shift_Ins_p.E59fs|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000393979.3_Frame_Shift_Ins_p.E59fs|RBM14-RBM4_ENST00000511114.1_3'UTR|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.E59fs	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	59	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						CTGCACGGCCACGAGCTGCGGC	0.644																																						.											0																																										SO:0001589	frameshift_variant	100526737			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	Exception_encountered	11.37:g.66384364_66384365insT	ENSP00000311747:p.Glu59fs		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Frame_Shift_Ins	INS	ENST00000310137.4	37	CCDS8147.1																																																																																				0.644	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		T	66384365	-	T	66384364	7	5	33	1	0	1	1	0	0	0	0	0	13115	159	6	0	175	0	RBM14	11	66384364	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	375407	66384364	68622152	36	2451											
BIRC3	330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	102206944	102206944	+	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	gaagctgtgttatatgagcaTttatttggtgagtgatagaa	12	15	12	2	0	0	4	0	3	0	1	0	5	0	4	0	1	2	3	0	1	6	6			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:102206944T>G	ENST00000263464.3	+	7	4322	c.1572T>G	c.(1570-1572)caT>caG	p.H524Q	BIRC3_ENST00000532808.1_Missense_Mutation_p.H524Q	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	524	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|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)|spermatogenesis (GO:0007283)|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)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	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)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATATGAGCATTTATTTGGTG	0.294			T	MALT1	MALT																																	.		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													83	89	87					11																	102206944		2203	4299	6502	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1572T>G	11.37:g.102206944T>G	ENSP00000263464:p.His524Gln		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	1.193	-0.634855	0.03584	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.19532	2.14;2.14	5.19	2.8	0.32819	DEATH-like (2);Caspase Recruitment (3);	0.758047	0.13895	N	0.355330	T	0.09598	0.0236	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.19666	0.026	T	0.38134	-0.9675	10	0.12430	T	0.62	.	4.7537	0.13073	0.1358:0.2514:0.0:0.6127	.	524	Q13489	BIRC3_HUMAN	Q	524;524;292	ENSP00000263464:H524Q;ENSP00000432907:H524Q	ENSP00000263464:H524Q	H	+	3	2	BIRC3	101712154	0.908000	0.30866	0.680000	0.29994	0.155000	0.21991	-0.157000	0.10085	0.994000	0.38892	0.482000	0.46254	CAT		0.294	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102206944	T	G	102206944	3	3	33	1	0	0	0	0	1	0	0	0	1436	1490	52	5	1594	5	BIRC3	11	102206944	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	35822580	102206944	32799572	37	2452											
KCNH5	27133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr14	63174364	63174364	+	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	gcctggggtacgcttttttcCgacagtatttttaaaatttc	8	17	8	8	2	0	0	0	0	0	0	2	1	1	0	2	2	1	3	2	2	4	9			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr14:63174364C>T	ENST00000322893.7	-	11	3097	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	943	CAD (involved in subunit assembly). {ECO:0000250}.				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)		CGCTTTTTTCCGACAGTATTT	0.478																																						.											0													129	139	136					14																	63174364		2203	4300	6503	SO:0001819	synonymous_variant	27133			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.2829G>A	14.37:g.63174364C>T			C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.478	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63174364	C	T	63174364	2	4	33	1	0	0	0	0	0	0	0	1	8035	639	23	1		1	KCNH5	14	63174364	Silent	SNP	C	TCGA-KM-8639-01A-11D-2397-10		63174364	44175176	38	2453											
VPS18	57617	bcgsc.ca	37	chr15	41191887	41191887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctggatgatgggggatGgtgtgttgtatggggcattg	5	13	19	4	1	0	1	0	1	0	0	1	3	0	3	1	6	0	3	1	6	1	3			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:41191887G>T	ENST00000220509.5	+	4	1210	c.871G>T	c.(871-873)Ggt>Tgt	p.G291C	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	291					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)		GATGGGGGATGGTGTGTTGTA	0.642																																						.											0													69	68	68					15																	41191887		2203	4300	6503	SO:0001583	missense	57617			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.871G>T	15.37:g.41191887G>T	ENSP00000220509:p.Gly291Cys		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892126	0.72524	.	.	ENSG00000104142	ENST00000220509	T	0.66638	-0.22	4.81	4.81	0.61882	Pep3/Vps18/deep orange (1);	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85483	0.1180	10	0.87932	D	0	-28.7849	18.4344	0.90640	0.0:0.0:1.0:0.0	.	291	Q9P253	VPS18_HUMAN	C	291	ENSP00000220509:G291C	ENSP00000220509:G291C	G	+	1	0	VPS18	38979179	1.000000	0.71417	0.803000	0.32268	0.979000	0.70002	9.601000	0.98297	2.646000	0.89796	0.655000	0.94253	GGT		0.642	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			T	41191887	G	T	41191887	3	4	33	1	0	0	0	0	1	0	0	0	17191	1348	47	5	885	5	VPS18	15	41191887	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		41191887	61339505	39	2454											
SPTBN5	51332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	42143342	42143342	+	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	gtcaaggagggctatggaagCtactttctgaggagagatga	12	9	15	5	0	2	3	1	2	1	1	2	7	2	6	0	4	2	2	0	4	4	3			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:42143342C>T	ENST00000320955.6	-	65	10977	c.10750G>A	c.(10750-10752)Gct>Act	p.A3584T	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3584	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)		GCTATGGAAGCTACTTTCTGA	0.617																																						.											0													33	36	35					15																	42143342		2037	4183	6220	SO:0001583	missense	51332			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.10750G>A	15.37:g.42143342C>T	ENSP00000317790:p.Ala3584Thr			Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	14.93	2.683294	0.47991	.	.	ENSG00000137877	ENST00000320955	T	0.30182	1.54	4.22	3.28	0.37604	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.220258	0.27886	N	0.017458	T	0.28797	0.0714	L	0.38175	1.15	0.09310	N	1	D	0.60160	0.987	P	0.47102	0.537	T	0.08534	-1.0717	10	0.48119	T	0.1	.	11.7679	0.51941	0.0:0.8225:0.1775:0.0	.	3584	Q9NRC6	SPTN5_HUMAN	T	3584	ENSP00000317790:A3584T	ENSP00000317790:A3584T	A	-	1	0	SPTBN5	39930634	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	-0.280000	0.08468	1.106000	0.41623	0.561000	0.74099	GCT		0.617	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42143342	C	T	42143342	3	4	33	1	0	0	0	0	1	0	0	0	15121	797	28	4	290	4	SPTBN5	15	42143342	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	951455	42143342	60388050	40	2455											
CYP1A2	1544	ucsc.edu	37	chr15	75047426	75047426	+	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	cggctgcgcttctccatcaaCtgaagaagacaccaccattc	11	8	7	15	2	2	3	1	1	1	2	4	3	2	3	3	1	2	2	3	1	3	2	rs2470890	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:75047426C>T	ENST00000343932.4	+	7	1611	c.1548C>T	c.(1546-1548)aaC>aaT	p.N516N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	515					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	TCTCCATCAACTGAAGAAGAC	0.577													C|||	1183	0.236222	0.028	0.3271	5008	,	,		14798	0.1637		0.5964	False		,,,				2504	0.1575					.											0								C		547,3847	238.0+/-249.6	40,467,1690	30	28	28		1548	0.6	0.3	15	dbSNP_100	28	5619,2973	631.2+/-398.5	1863,1893,540	no	coding-synonymous	CYP1A2	NM_000761.3		1903,2360,2230	TT,TC,CC		34.602,12.4488,47.4819		516/517	75047426	6166,6820	2197	4296	6493	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1548C>T	15.37:g.75047426C>T			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		T	75047426	C	T	75047426	2	4	33	1	0	0	0	0	0	0	0	1	4150	564	20	4		4	CYP1A2	15	75047426	Silent	SNP	C	TCGA-KM-8639-01A-11D-2397-10	32904084	75047426	27483966	41	2456											
AMDHD2	51005	broad.mit.edu	37	chr16	2570776	2570776	+	Frame_Shift_Del	DEL	T	T	-																															cactgcgtccccagggaggaTctgtgggtgcgcggaggccg																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:2570776delT	ENST00000293971.6	+	2	184	c.90delT	c.(88-90)gatfs	p.D30fs	AMDHD2_ENST00000302956.4_Frame_Shift_Del_p.D30fs|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Frame_Shift_Del_p.D30fs	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	30					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						CCAGGGAGGATCTGTGGGTGC	0.746																																						.											0													11	13	12					16																	2570776		2178	4266	6444	SO:0001589	frameshift_variant	51005			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.90delT	16.37:g.2570776delT	ENSP00000293971:p.Asp30fs		B4DL77|Q8WV54	Frame_Shift_Del	DEL	ENST00000293971.6	37																																																																																					0.746	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		-	2570776	T	-	2570776	7	5	33	1	0	1	0	1	0	0	0	0	568	1432	50	0	96	0	AMDHD2	16	2570776	Frame_Shift_Del	DEL	T	TCGA-KM-8639-01A-11D-2397-10		2570776	87783977	42	2457	69	2									
AMDHD2	51005	broad.mit.edu	37	chr16	2570778	2570778	+	Frame_Shift_Del	DEL	T	T	-																															ctgcgtccccagggaggatcTgtgggtgcgcggaggccgca																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:2570778delT	ENST00000293971.6	+	2	186	c.92delT	c.(91-93)ctgfs	p.L31fs	AMDHD2_ENST00000302956.4_Frame_Shift_Del_p.L31fs|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Frame_Shift_Del_p.L31fs	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	31					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						AGGGAGGATCTGTGGGTGCGC	0.741																																						.											0													11	13	12					16																	2570778		2182	4272	6454	SO:0001589	frameshift_variant	51005			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.92delT	16.37:g.2570778delT	ENSP00000293971:p.Leu31fs		B4DL77|Q8WV54	Frame_Shift_Del	DEL	ENST00000293971.6	37																																																																																					0.741	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		-	2570778	T	-	2570778	7	5	33	1	0	1	0	1	0	0	0	0	568	1580	55	0	98	0	AMDHD2	16	2570778	Frame_Shift_Del	DEL	T	TCGA-KM-8639-01A-11D-2397-10	2	2570778	87783975	43	2458	69	2									
DNAJA2	10294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	46991077	46991077	+	Missense_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	cctgaagctctacctcctctGtttctccaattatgttagga	8	15	6	12	0	3	1	0	1	3	0	5	2	4	2	4	1	2	3	4	1	5	4			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:46991077G>A	ENST00000317089.5	-	9	1318	c.1103C>T	c.(1102-1104)aCa>aTa	p.T368I		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	368					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TACCTCCTCTGTTTCTCCAAT	0.418																																						.											0													232	232	232					16																	46991077		2203	4300	6503	SO:0001583	missense	10294			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.1103C>T	16.37:g.46991077G>A	ENSP00000314030:p.Thr368Ile		B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554228	0.27739	.	.	ENSG00000069345	ENST00000317089	T	0.37584	1.19	5.57	5.57	0.84162	.	0.049770	0.85682	D	0.000000	T	0.34919	0.0914	L	0.43923	1.385	0.49915	D	0.999831	B	0.16802	0.019	B	0.15484	0.013	T	0.06180	-1.0841	10	0.27785	T	0.31	-6.023	19.5403	0.95271	0.0:0.0:1.0:0.0	.	368	O60884	DNJA2_HUMAN	I	368	ENSP00000314030:T368I	ENSP00000314030:T368I	T	-	2	0	DNAJA2	45548578	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	5.020000	0.64066	2.623000	0.88846	0.561000	0.74099	ACA		0.418	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			A	46991077	G	A	46991077	3	1	33	1	0	0	0	0	1	0	0	0	4612	1377	48	4	139	4	DNAJA2	16	46991077	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10	44420299	46991077	43363676	44	2459											
TMCO7	79613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	68961835	68961835	+	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	cactactacaagtcagaaatCtggaagcgtaaccacagaac	17	6	7	11	1	2	2	1	0	1	2	2	3	2	3	1	1	5	1	1	1	7	3			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:68961835C>G	ENST00000261778.1	+	13	2504	c.2492C>G	c.(2491-2493)tCt>tGt	p.S831C	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	831						integral component of membrane (GO:0016021)											AGTCAGAAATCTGGAAGCGTA	0.522																																						.											0													57	59	58					16																	68961835		1957	4157	6114	SO:0001583	missense	79613				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.2492C>G	16.37:g.68961835C>G	ENSP00000261778:p.Ser831Cys		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	8.651	0.898148	0.17686	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.37	4.42	0.53409	Armadillo-type fold (1);	1.039830	0.07516	N	0.909757	T	0.25531	0.0621	N	0.19112	0.55	0.09310	N	1	D	0.55800	0.973	P	0.46975	0.533	T	0.10314	-1.0635	9	0.48119	T	0.1	-0.0017	6.1402	0.20255	0.136:0.6561:0.1319:0.076	.	831	Q9C0B7	TMCO7_HUMAN	C	831	.	ENSP00000261778:S831C	S	+	2	0	TMCO7	67519336	0.003000	0.15002	0.002000	0.10522	0.156000	0.22039	1.705000	0.37867	1.269000	0.44280	0.655000	0.94253	TCT		0.522	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		G	68961835	C	G	68961835	3	3	33	1	0	0	0	0	1	0	0	0	15998	913	32	5	2542	5	TMCO7	16	68961835	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	21970758	68961835	21392918	45	2460											
BCAR1	9564	broad.mit.edu	37	chr16	75263529	75263530	+	Frame_Shift_Del	DEL	CT	CT	-																															gggtactgcaaggcagcggcCttggtggtggccacgatgcc																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:75263529_75263530delCT	ENST00000162330.5	-	7	2618_2619	c.2492_2493delAG	c.(2491-2493)aagfs	p.K831fs	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.K849fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.K877fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.K831fs|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.K849fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.K849fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.K829fs|BCAR1_ENST00000546196.1_Frame_Shift_Del_p.K802fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.K683fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	831					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)		AGGCAGCGGCCTTGGTGGTGGC	0.668																																						.											0																																										SO:0001589	frameshift_variant	9564			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.2492_2493delAG	16.37:g.75263529_75263530delCT	ENSP00000162330:p.Lys831fs		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	CCDS10915.1																																																																																				0.668	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		-	75263530	CT	-	75263529	7	5	33	1	0	1	0	1	0	0	0	0	1348	680	24	0	123	0	BCAR1	16	75263529	Frame_Shift_Del	DEL	CT	TCGA-KM-8639-01A-11D-2397-10	6301694	75263529	15091224	46	2461	70	2									
BCAR1	9564	broad.mit.edu	37	chr16	75263533	75263534	+	Frame_Shift_Ins	INS	-	-	T																															ctgcaaggcagcggccttggINStggtggccacgatgccgcgc																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:75263533_75263534insT	ENST00000162330.5	-	7	2614_2615	c.2488_2489insA	c.(2488-2490)accfs	p.T830fs	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Ins_p.T848fs|BCAR1_ENST00000418647.3_Frame_Shift_Ins_p.T876fs|BCAR1_ENST00000538440.2_Frame_Shift_Ins_p.T830fs|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393422.2_Frame_Shift_Ins_p.T848fs|BCAR1_ENST00000393420.6_Frame_Shift_Ins_p.T848fs|BCAR1_ENST00000542031.2_Frame_Shift_Ins_p.T828fs|BCAR1_ENST00000546196.1_Frame_Shift_Ins_p.T801fs|BCAR1_ENST00000535626.2_Frame_Shift_Ins_p.T682fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	830					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)		AGCGGCCTTGGTGGTGGCCACG	0.673																																						.											0																																										SO:0001589	frameshift_variant	9564			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.2489dupA	16.37:g.75263534_75263534dupT	ENSP00000162330:p.Thr830fs		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Ins	INS	ENST00000162330.5	37	CCDS10915.1																																																																																				0.673	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		T	75263534	-	T	75263533	7	5	33	1	0	1	1	0	0	0	0	0	1348	1261	44	0	127	0	BCAR1	16	75263533	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	4	75263533	15091220	47	2462	70	2									
USP10	9100	mdanderson.org	37	chr16	84797726	84797726	+	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	aacggccccaaaaaccactcGgtcaatgaagaagagcagga	17	3	10	11	2	1	3	1	1	0	2	2	4	1	4	3	3	3	1	3	3	6	0	rs117002428	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:84797726G>A	ENST00000219473.7	+	10	1802	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	USP10_ENST00000570191.1_Silent_p.S567S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	563	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						AAAACCACTCGGTCAATGAAG	0.478																																						.											0													45	47	46					16																	84797726		1883	4099	5982	SO:0001819	synonymous_variant	9100			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.1689G>A	16.37:g.84797726G>A			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																				0.478	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			A	84797726	G	A	84797726	2	1	33	1	0	0	0	0	0	0	0	1	17038	1103	39	1		1	USP10	16	84797726	Silent	SNP	G	TCGA-KM-8639-01A-11D-2397-10	9534193	84797726	5557027	48	2463											
LMNB2	84823	broad.mit.edu	37	chr19	2434856	2434857	+	Frame_Shift_Ins	INS	-	-	A																															ggcctccttcagctcctcgcINSgagccgcactggccgccttg																								rs140495297|rs567796688		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:2434856_2434857insA	ENST00000582871.1	-	6	936_937	c.850_851insT	c.(850-852)cgcfs	p.R284fs	LMNB2_ENST00000325327.3_Frame_Shift_Ins_p.R304fs	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	284	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)		CAGCTCCTCGCGAGCCGCACTG	0.708																																						.											0																																										SO:0001589	frameshift_variant	84823			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.850_851insT	19.37:g.2434856_2434857insA	ENSP00000462730:p.Arg284fs		O75292|Q14734|Q96DF6	Frame_Shift_Ins	INS	ENST00000582871.1	37																																																																																					0.708	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		A	2434857	-	A	2434856	7	5	33	1	0	1	1	0	0	0	0	0	8850	768	27	0	979	0	LMNB2	19	2434856	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10		2434856	56694127	49	2464											
TMED1	11018	broad.mit.edu;hgsc.bcm.edu	37	chr19	10943859	10943865	+	Frame_Shift_Del	DEL	CCAGCCG	CCAGCCG	-																															gagcatctggatgctgcgctCcagccgggtccgcatggtct																								rs140257821		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CCAGCCG	CCAGCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:10943859_10943865delCCAGCCG	ENST00000214869.2	-	4	588_594	c.490_496delCGGCTGG	c.(490-498)cggctggagfs	p.RLE164fs	TMED1_ENST00000588289.1_Frame_Shift_Del_p.RLE19fs|TMED1_ENST00000591695.1_Frame_Shift_Del_p.PGW102fs	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	164					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						ATGCTGCGCTCCAGCCGGGTCCGCATG	0.623																																						.											0																																										SO:0001589	frameshift_variant	11018			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.490_496delCGGCTGG	19.37:g.10943859_10943865delCCAGCCG	ENSP00000214869:p.Arg164fs			Frame_Shift_Del	DEL	ENST00000214869.2	37	CCDS12249.1																																																																																				0.623	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		-	10943865	CCAGCCG	-	10943859	7	5	33	1	0	1	0	1	0	0	0	0	15999	864	30	0	191	0	TMED1	19	10943859	Frame_Shift_Del	DEL	CCAGCCG	TCGA-KM-8639-01A-11D-2397-10	8509003	10943859	48185124	50	2465	71	2									
TMED1	11018	bcgsc.ca	37	chr19	10943860	10943866	+	Frame_Shift_Del	DEL	CCAGCCG	CCAGCCG	-																															agcatctggatgctgcgctcCagccgggtccgcatggtctc																								rs140257821		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CCAGCCG	CCAGCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:10943860_10943866delCCAGCCG	ENST00000214869.2	-	4	587_593	c.489_495delCGGCTGG	c.(487-495)accggctggfs	p.TGW163fs	TMED1_ENST00000588289.1_Frame_Shift_Del_p.TGW18fs|TMED1_ENST00000591695.1_Frame_Shift_Del_p.PAG102fs	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	163					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						TGCTGCGCTCCAGCCGGGTCCGCATGG	0.623																																						.											0																																										SO:0001589	frameshift_variant	11018			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.489_495delCGGCTGG	19.37:g.10943860_10943866delCCAGCCG	ENSP00000214869:p.Thr163fs			Frame_Shift_Del	DEL	ENST00000214869.2	37	CCDS12249.1																																																																																				0.623	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		-	10943866	CCAGCCG	-	10943860	7	5	33	1	0	1	0	1	0	0	0	0	15999	581	21	0	192	0	TMED1	19	10943860	Frame_Shift_Del	DEL	CCAGCCG	TCGA-KM-8639-01A-11D-2397-10	1	10943860	48185123	51	2466	71	2									
ZNF799	90576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	12501695	12501695	+	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	aggctttcttacatgtgttaCactcataaggtttctctcct	8	17	6	10	0	3	0	1	0	2	0	5	0	4	0	1	2	2	3	1	2	3	5	rs201843472		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:12501695C>A	ENST00000430385.3	-	4	1717	c.1517G>T	c.(1516-1518)tGt>tTt	p.C506F	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.C474F	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	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)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACATGTGTTACACTCATAAGG	0.388													C|||	1	0.000199681	0	0.0014	5008	,	,		21476	0		0	False		,,,				2504	0					.											0													96	100	99					19																	12501695		2202	4300	6502	SO:0001583	missense	90576			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.1517G>T	19.37:g.12501695C>A	ENSP00000411084:p.Cys506Phe			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.76	2.928813	0.52759	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	D;D	0.85088	-1.94;-1.94	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94238	0.8150	H	0.98295	4.195	0.37708	D	0.924487	D	0.76494	0.999	D	0.69479	0.964	D	0.94528	0.7733	9	0.87932	D	0	.	9.8115	0.40826	0.0:1.0:0.0:0.0	.	506	Q96GE5	ZN799_HUMAN	F	474;506	ENSP00000415278:C474F;ENSP00000411084:C506F	ENSP00000415278:C474F	C	-	2	0	ZNF799	12362695	0.984000	0.35163	0.023000	0.16930	0.370000	0.29829	3.155000	0.50700	0.922000	0.37019	0.195000	0.17529	TGT		0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		A	12501695	C	A	12501695	3	1	33	1	0	0	0	0	1	0	0	0	18163	478	17	5	418	5	ZNF799	19	12501695	Missense_Mutation	SNP	C	TCGA-KM-8639-01A-11D-2397-10	1557835	12501695	46627288	52	2467											
GIPC1	10755	broad.mit.edu	37	chr19	14593617	14593618	+	Frame_Shift_Ins	INS	-	-	A																															agctgggtgtggaacacgagINSgcggggccgcagggctgggg																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:14593617_14593618insA	ENST00000393033.4	-	4	440_441	c.171_172insT	c.(169-174)cgcctcfs	p.L58fs	GIPC1_ENST00000586027.1_Frame_Shift_Ins_p.L58fs|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000345425.2_Frame_Shift_Ins_p.L58fs|GIPC1_ENST00000393028.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	58					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGGAACACGAGGCGGGGCCGCA	0.718																																					Pancreas(33;78 923 2910 41023 52850)	.											0																																										SO:0001589	frameshift_variant	10755			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.171_172insT	19.37:g.14593617_14593618insA	ENSP00000376753:p.Leu58fs		A8K4I3|A8MZG3|Q9BTC9	Frame_Shift_Ins	INS	ENST00000393033.4	37	CCDS12310.1																																																																																				0.718	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			A	14593618	-	A	14593617	7	5	33	1	0	1	1	0	0	0	0	0	6392	1000	35	0	853	0	GIPC1	19	14593617	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	2091922	14593617	44535366	53	2468											
ZNF101	94039	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	19790063	19790063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagccagattcctgatTgtcacctgaacaagaaaagt	13	11	7	10	0	2	4	2	2	0	2	3	4	3	4	3	0	2	0	3	0	4	3			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:19790063T>C	ENST00000592502.1	+	4	375	c.265T>C	c.(265-267)Tgt>Cgt	p.C89R	ZNF101_ENST00000415784.2_5'UTR|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GATTCCTGATTGTCACCTGAA	0.443																																						.											0													93	84	87					19																	19790063		2203	4300	6503	SO:0001583	missense	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.265T>C	19.37:g.19790063T>C	ENSP00000468049:p.Cys89Arg		C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	T	0.221	-1.028890	0.02045	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	T	0.14516	2.5	0.235	0.235	0.15431	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	0.999991	B	0.30914	0.3	B	0.22753	0.041	T	0.33954	-0.9848	9	0.51188	T	0.08	.	2.6085	0.04884	0.0:0.4385:0.0:0.5614	.	89	Q8IZC7	ZN101_HUMAN	R	89	ENSP00000319716:C89R	ENSP00000319716:C89R	C	+	1	0	ZNF101	19651063	0.000000	0.05858	0.256000	0.24389	0.257000	0.26127	-0.506000	0.06359	0.263000	0.21812	0.260000	0.18958	TGT		0.443	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		C	19790063	T	C	19790063	3	2	33	1	0	0	0	0	1	0	0	0	17711	1812	63	4	279	4	ZNF101	19	19790063	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	5196446	19790063	39338920	54	2469											
CEACAM5	1048	mdanderson.org	37	chr19	42213772	42213772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggatggcaaccgtcaaattAtaggatatgtaataggaact	15	11	10	5	1	1	0	1	0	0	0	1	3	1	3	1	4	2	2	1	4	8	5	rs12971352	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:42213772A>G	ENST00000221992.6	+	2	352	c.238A>G	c.(238-240)Ata>Gta	p.I80V	CEACAM5_ENST00000398599.4_Missense_Mutation_p.I80V|CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I80V|CEA_ENST00000598976.1_Missense_Mutation_p.I80V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	80	Ig-like 1.		I -> V (in dbSNP:rs12971352).		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)		CCGTCAAATTATAGGATATGT	0.478													a|||	818	0.163339	0.3986	0.1037	5008	,	,		18246	0		0.1958	False		,,,				2504	0.0225					.											0								A	VAL/ILE	1325,3081		310,705,1188	154	163	160		238	-1.3	0	19	dbSNP_121	160	1069,7531		115,839,3346	no	missense	CEACAM5	NM_004363.2	29	425,1544,4534	GG,GA,AA		12.4302,30.0726,18.4069	benign	80/703	42213772	2394,10612	2203	4300	6503	SO:0001583	missense	1048			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.238A>G	19.37:g.42213772A>G	ENSP00000221992:p.Ile80Val		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	303|303	0.13873626373626374|0.13873626373626374	131|131	0.266260162601626|0.266260162601626	40|40	0.11049723756906077|0.11049723756906077	0|0	0.0|0.0	132|132	0.1741424802110818|0.1741424802110818	-|-	0.004|0.004	-2.303796|-2.303796	0.00240|0.00240	0.300726|0.300726	0.124302|0.124302	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.66099|.	-0.19;-0.19|.	2.56|2.56	-1.31|-1.31	0.09230|0.09230	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.11724|0.11724	0.165|0.165	0.80722|0.80722	P|P	0.0|0.0	B;B;B|.	0.12013|.	0.005;0.0;0.0|.	B;B;B|.	0.26517|.	0.07;0.005;0.016|.	T|T	0.44697|0.44697	-0.9311|-0.9311	8|4	0.05721|.	T|.	0.95|.	.|.	4.8298|4.8298	0.13434|0.13434	0.1374:0.4321:0.4306:0.0|0.1374:0.4321:0.4306:0.0	rs12971352|rs12971352	80;80;80|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	V|C	80|76	ENSP00000221992:I80V;ENSP00000385072:I80V|.	ENSP00000221992:I80V|.	I|Y	+|+	1|2	0|0	CEACAM5|CEACAM5	46905612|46905612	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	-0.284000|-0.284000	0.08422|0.08422	-0.113000|-0.113000	0.11958|0.11958	-2.226000|-2.226000	0.00293|0.00293	ATA|TAT		0.478	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		G	42213772	A	G	42213772	3	3	33	1	0	0	0	0	1	0	0	0	3195	449	16	4	244	4	CEACAM5	19	42213772	Missense_Mutation	SNP	A	TCGA-KM-8639-01A-11D-2397-10	22423709	42213772	16915211	55	2470											
MYH7B	57644	broad.mit.edu;bcgsc.ca	37	chr20	33577581	33577581	+	Missense_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	atcctggaggaggaatgcatGttccccaaggcctcagacgc	10	7	12	12	1	1	1	1	0	0	1	3	4	3	4	4	4	1	2	4	4	2	1			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:33577581G>A	ENST00000262873.7	+	18	1844	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	542	Myosin motor.					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)			AGGAATGCATGTTCCCCAAGG	0.587																																						.											0													56	61	59					20																	33577581		2200	4300	6500	SO:0001583	missense	57644			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.1752G>A	20.37:g.33577581G>A	ENSP00000262873:p.Met584Ile		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994859	0.93167	.	.	ENSG00000078814	ENST00000262873	T	0.71341	-0.56	4.5	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.45867	D	0.000321	T	0.81351	0.4804	L	0.54863	1.705	0.58432	D	0.999999	D	0.53885	0.963	D	0.76575	0.988	T	0.81892	-0.0724	10	0.51188	T	0.08	.	17.7562	0.88450	0.0:0.0:1.0:0.0	.	542	A7E2Y1	MYH7B_HUMAN	I	584	ENSP00000262873:M584I	ENSP00000262873:M584I	M	+	3	0	MYH7B	33041242	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.503000	0.84419	0.561000	0.74099	ATG		0.587	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		A	33577581	G	A	33577581	3	1	33	1	0	0	0	0	1	0	0	0	10040	1377	48	4	1822	4	MYH7B	20	33577581	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		33577581	29447939	56	2471											
C20orf111	51526	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	42825743	42825743	+	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	attttcttgggaatatacaaGtaatactccatgtagcctga	13	14	7	7	0	1	1	0	1	1	0	2	2	2	2	2	1	3	2	2	1	7	8			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:42825743G>C	ENST00000372970.2	-	6	1008	c.828C>G	c.(826-828)taC>taG	p.Y276*	OSER1_ENST00000255174.2_Nonsense_Mutation_p.Y276*			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	276					cellular response to hydrogen peroxide (GO:0070301)												GAATATACAAGTAATACTCCA	0.448																																						.											0													106	104	105					20																	42825743		2203	4300	6503	SO:0001587	stop_gained	51526			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.828C>G	20.37:g.42825743G>C	ENSP00000362061:p.Tyr276*		B2RCK4|O95912|Q9NZ84|Q9P0R8	Nonsense_Mutation	SNP	ENST00000372970.2	37	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646283	0.96704	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	.	.	.	6.03	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.52099	D	0.999946	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4897	12.2023	0.54333	0.1364:0.0:0.8636:0.0	.	.	.	.	X	276	.	ENSP00000255174:Y276X	Y	-	3	2	C20orf111	42259157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.336000	0.43938	1.547000	0.49401	0.655000	0.94253	TAC		0.448	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		C	42825743	G	C	42825743	4	2	33	1	0	0	0	0	0	1	0	0	2080	1024	36	5	54	5	C20orf111	20	42825743	Nonsense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10	9248162	42825743	20199777	57	2472											
NCOA3	8202	hgsc.bcm.edu	37	chr20	46279839	46279839	+	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	cagcagcagcagcagcaacaGcagcagcagcagcagcagca	15	0	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0	rs147879509|rs2664555|rs397778717|rs3830809		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:46279839G>A	ENST00000371998.3	+	20	3956	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	NCOA3_ENST00000372004.3_Silent_p.Q1251Q|NCOA3_ENST00000341724.6_Silent_p.Q1181Q|NCOA3_ENST00000371997.3_Silent_p.Q1246Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1255	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)	p.Q1255delQ(1)		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						agcagcaacagcagcagcagc	0.557																																						.											1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											41	44	43					20																	46279839		2202	4300	6502	SO:0001819	synonymous_variant	8202			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.3765G>A	20.37:g.46279839G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.557	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279839	G	A	46279839	2	1	33	1	0	0	0	0	0	0	0	1	10230	962	34	4		4	NCOA3	20	46279839	Silent	SNP	G	TCGA-KM-8639-01A-11D-2397-10	3454096	46279839	16745681	58	2473											
MYO18B	84700	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	26351240	26351240	+	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	cagcagcgggagagcagccaGtactaccagcggcgcctgga	10	3	15	13	3	0	1	0	0	0	1	0	3	0	2	3	3	7	3	3	3	2	2			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr22:26351240G>C	ENST00000407587.2	+	39	6238	c.6069G>C	c.(6067-6069)caG>caC	p.Q2023H	MYO18B_ENST00000335473.7_Missense_Mutation_p.Q2022H|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q2022H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2022	Tail.					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						AGAGCAGCCAGTACTACCAGC	0.662																																						.											0													22	29	26					22																	26351240		1967	4148	6115	SO:0001583	missense	84700			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.6069G>C	22.37:g.26351240G>C	ENSP00000386096:p.Gln2023His		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	13.81	2.347182	0.41599	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.22;-2.22;-2.25	4.86	-3.03	0.05429	.	0.165305	0.42172	D	0.000742	T	0.80834	0.4699	L	0.36672	1.1	0.32480	N	0.541574	P;P;P;P;P	0.47604	0.898;0.836;0.836;0.874;0.898	P;B;B;P;P	0.49752	0.526;0.326;0.326;0.621;0.526	T	0.78617	-0.2134	10	0.72032	D	0.01	.	5.1107	0.14808	0.3885:0.2584:0.3531:0.0	.	1535;2024;2022;2023;2022	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	H	2022;2022;2023	ENSP00000441229:Q2022H;ENSP00000334563:Q2022H;ENSP00000386096:Q2023H	ENSP00000334563:Q2022H	Q	+	3	2	MYO18B	24681240	0.005000	0.15991	0.939000	0.37840	0.335000	0.28730	-0.611000	0.05622	-0.278000	0.09180	-0.226000	0.12346	CAG		0.662	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		C	26351240	G	C	26351240	3	2	33	1	0	0	0	0	1	0	0	0	10066	1020	36	5	6216	5	MYO18B	22	26351240	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10		26351240	24953326	59	2474											
APOL5	80831	mdanderson.org	37	chr22	36122931	36122931	+	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	agacacatccctttctggacGgctagaggggtgcagagagc	10	7	14	10	1	1	3	0	0	1	3	2	5	2	4	1	4	2	2	1	4	1	2	rs370593513		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr22:36122931G>A	ENST00000249044.2	+	3	816	c.816G>A	c.(814-816)acG>acA	p.T272T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	272			T -> M (in dbSNP:rs2076671).		lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTTTCTGGACGGCTAGAGGGG	0.527													G|||	1	0.000199681	8e-04	0	5008	,	,		18487	0		0	False		,,,				2504	0					.											0								G		3,4403	4.2+/-10.8	0,3,2200	138	145	143		816	-4.8	0	22		143	0,8600		0,0,4300	no	coding-synonymous	APOL5	NM_030642.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		272/434	36122931	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80831			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.816G>A	22.37:g.36122931G>A			Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	CCDS13920.1																																																																																				0.527	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		A	36122931	G	A	36122931	2	1	33	1	0	0	0	0	0	0	0	1	809	1103	39	1		1	APOL5	22	36122931	Silent	SNP	G	TCGA-KM-8639-01A-11D-2397-10	9771691	36122931	15181635	60	2475											
NLGN4X	57502	mdanderson.org;bcgsc.ca	37	chrX	6069116	6069116	+	Missense_Mutation	SNP	T	T	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	aggtcatcaaagtatccaaaTtggcggtaaaccagatgggc	14	8	11	8	1	2	1	2	0	0	1	3	1	3	1	2	4	1	2	2	4	5	3	rs145307351		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:6069116T>C	ENST00000381095.3	-	2	1019	c.392A>G	c.(391-393)aAt>aGt	p.N131S	NLGN4X_ENST00000381093.2_Missense_Mutation_p.N131S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.N131S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.N131S|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000538097.1_Missense_Mutation_p.N131S	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	131					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGTATCCAAATTGGCGGTAAA	0.468																																						.											0								T	SER/ASN,SER/ASN	0,3835		0,0,0,1632,571	157	133	141		392,392	4.1	0.2	X	dbSNP_134	141	5,6723		0,4,1,2424,1871	yes	missense,missense	NLGN4X	NM_020742.2,NM_181332.1	46,46	0,4,1,4056,2442	CC,CT,C,TT,T		0.0743,0.0,0.0473	benign,benign	131/817,131/817	6069116	5,10558	2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.392A>G	X.37:g.6069116T>C	ENSP00000370485:p.Asn131Ser		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326202	0.24080	0.0	7.43E-4	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	4.08	4.08	0.47627	Carboxylesterase, type B (1);	.	.	.	.	T	0.58680	0.2139	L	0.48935	1.535	0.58432	D	0.999998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.56920	-0.7899	9	0.46703	T	0.11	.	11.7027	0.51579	0.0:0.0:0.0:1.0	.	131;131	Q8N0W4;Q8N0W4-2	NLGNX_HUMAN;.	S	131	ENSP00000370485:N131S;ENSP00000370483:N131S;ENSP00000275857:N131S;ENSP00000370482:N131S;ENSP00000439203:N131S	ENSP00000275857:N131S	N	-	2	0	NLGN4X	6079116	1.000000	0.71417	0.208000	0.23602	0.214000	0.24535	6.568000	0.73987	1.338000	0.45544	0.481000	0.45027	AAT		0.468	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		C	6069116	T	C	6069116	3	2	33	1	0	0	0	0	1	0	0	0	10464	1493	52	4	2078	4	NLGN4X	23	6069116	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10		6069116	149201444	61	2476											
WWC3	55841	broad.mit.edu	37	chrX	10085451	10085452	+	Frame_Shift_Ins	INS	-	-	A																															acgccccagtccctggcatcINSgctgtcctcccgctcctcgc																										TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:10085451_10085452insA	ENST00000380861.4	+	11	1743_1744	c.1352_1353insA	c.(1351-1356)tcgctgfs	p.L452fs	WWC3_ENST00000454666.1_Frame_Shift_Ins_p.L452fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	452	Ser-rich.				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						TCCCTGGCATCGCTGTCCTCCC	0.698																																						.											0																																										SO:0001589	frameshift_variant	55841			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	Exception_encountered	X.37:g.10085451_10085452insA	ENSP00000370242:p.Leu452fs		A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Ins	INS	ENST00000380861.4	37	CCDS14136.1																																																																																				0.698	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		A	10085452	-	A	10085451	7	5	33	1	0	1	1	0	0	0	0	0	17410	893	31	0	1390	0	WWC3	23	10085451	Frame_Shift_Ins	INS	-	TCGA-KM-8639-01A-11D-2397-10	4016335	10085451	145185109	62	2477											
TBC1D25	4943	bcgsc.ca	37	chrX	48418659	48418659	+	Missense_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	cccccagccaagtggcagacGctggttttggtggccacagg	7	7	14	13	1	0	1	0	0	0	1	0	1	0	1	4	5	1	3	4	5	1	2	rs235836	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:48418659G>A	ENST00000376771.4	+	6	1704	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	TBC1D25_ENST00000537536.1_Missense_Mutation_p.A201T|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	455				A -> T (in Ref. 2; AAI01818/AAI01820/ AAI25089). {ECO:0000305}.	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						AGTGGCAGACGCTGGTTTTGG	0.607													A|||	2101	0.556556	0.6089	0.3285	3775	,	,		14249	0.4127		0.3082	False		,,,				2504	0.3497					.											0								A	THR/ALA	2926,909		957,587,425,88,146	28	23	25		1363	-7.3	0	X	dbSNP_79	25	2876,3852		481,1133,781,814,1091	yes	missense	TBC1D25	NM_002536.2	58	1438,1720,1206,902,1237	AA,AG,A,GG,G		42.7467,23.7027,45.0724	benign	455/689	48418659	5802,4761	2203	4300	6503	SO:0001583	missense	4943			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.1363G>A	X.37:g.48418659G>A	ENSP00000365962:p.Ala455Thr		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	892	0.5376732971669681	208	0.6459627329192547	80	0.28169014084507044	157	0.3866995073891626	162	0.2691029900332226	A	0.018	-1.479371	0.01035	0.762973	0.427467	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.21543	2.0;2.0	4.05	-7.34	0.01427	Rab-GAP/TBC domain (2);	2.072600	0.01690	N	0.026624	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34825	-0.9813	9	0.02654	T	1	2.5694	3.1069	0.06345	0.2791:0.2206:0.3908:0.1095	rs235836	459;397;455	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	T	455;201	ENSP00000365962:A455T;ENSP00000444091:A201T	ENSP00000365962:A455T	A	+	1	0	TBC1D25	48303603	0.000000	0.05858	0.015000	0.15790	0.736000	0.42039	-1.130000	0.03241	-2.436000	0.00553	-0.573000	0.04149	GCT		0.607	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		A	48418659	G	A	48418659	3	1	33	1	0	0	0	0	1	0	0	0	15612	1087	38	1	1385	1	TBC1D25	23	48418659	Missense_Mutation	SNP	G	TCGA-KM-8639-01A-11D-2397-10	38333208	48418659	106851901	63	2478											
SATL1	340562	mdanderson.org	37	chrX	84363716	84363716	+	5'UTR	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	ttcttgttgcagcatgcctgGttggctcctacctaattgcc	5	15	9	12	0	1	0	0	0	1	0	2	0	2	0	4	2	5	5	4	2	2	7	rs141330942		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:84363716G>C	ENST00000395409.3	-	0	258				SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000509231.1_Missense_Mutation_p.P87A			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGCATGCCTGGTTGGCTCCTA	0.527											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-|||	6	0.0015894	0	0.0029	3775	,	,		17578	0		0.002	False		,,,				2504	0.002					.											0									ALA/PRO	0,1209		0,0,0,517,175	415	264	310		259	-5	0	X	dbSNP_134	310	17,2374		0,12,5,788,786	yes	missense	SATL1	NM_001012980.2	27	0,12,5,1305,961	CC,CG,C,GG,G		0.711,0.0,0.4722	possibly-damaging	87/633	84363716	17,3583	692	1591	2283	SO:0001623	5_prime_UTR_variant	340562			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.-303C>G	X.37:g.84363716G>C		1228	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	3.720	-0.057793	0.07317	0.0	0.00711	ENSG00000184788	ENST00000509231	T	0.39592	1.07	2.81	-5.03	0.02973	.	.	.	.	.	T	0.16128	0.0388	L	0.43152	1.355	0.20403	N	0.999904	P	0.40332	0.713	B	0.33339	0.162	T	0.11717	-1.0576	8	.	.	.	.	1.0108	0.01497	0.3:0.1614:0.3765:0.1621	.	87	E9PB72	.	A	87	ENSP00000425421:P87A	.	P	-	1	0	SATL1	84250372	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.952000	0.29149	-0.781000	0.04548	0.431000	0.28591	CCA		0.527	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		C	84363716	G	C	84363716	1	2	33	0	1	0	0	0	0	0	0	0	13855	1261	44	5		5	SATL1	23	84363716	5'UTR	SNP	G	TCGA-KM-8639-01A-11D-2397-10	35945057	84363716	70906844	64	2479											
HCFC1	3054	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	153220585	153220585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcggtggtggcggtgtTggtggtgcccgtctcgtggg	0	11	23	7	4	1	0	0	0	1	0	2	0	1	0	1	9	1	1	1	9	0	1			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:153220585T>C	ENST00000310441.7	-	17	4231	c.3265A>G	c.(3265-3267)Aac>Gac	p.N1089D	HCFC1_ENST00000354233.3_Missense_Mutation_p.N1020D|HCFC1_ENST00000369984.4_Missense_Mutation_p.N1089D	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1089					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)					gtggcggtgttggtggtgCCC	0.642																																						.											0													35	43	41					X																	153220585		2173	4254	6427	SO:0001583	missense	3054				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.3265A>G	X.37:g.153220585T>C	ENSP00000309555:p.Asn1089Asp		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	t	13.39	2.221672	0.39300	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04551	3.65;3.64;3.6	4.9	0.883	0.19177	.	0.576812	0.19428	N	0.114508	T	0.06096	0.0158	L	0.49126	1.545	0.42729	D	0.993701	B	0.15141	0.012	B	0.16289	0.015	T	0.26430	-1.0103	10	0.39692	T	0.17	.	12.6669	0.56848	0.0:0.0:0.6157:0.3843	.	1089	P51610	HCFC1_HUMAN	D	1089;1089;1020	ENSP00000309555:N1089D;ENSP00000359001:N1089D;ENSP00000346174:N1020D	ENSP00000309555:N1089D	N	-	1	0	HCFC1	152873779	1.000000	0.71417	0.632000	0.29296	0.666000	0.39218	1.816000	0.38992	-0.194000	0.10399	0.427000	0.28365	AAC		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		C	153220585	T	C	153220585	3	2	33	1	0	0	0	0	1	0	0	0	6991	1812	63	4	2882	4	HCFC1	23	153220585	Missense_Mutation	SNP	T	TCGA-KM-8639-01A-11D-2397-10	68856869	153220585	2049975	65	2480											
ESPN	83715	ucsc.edu;bcgsc.ca	37	chr1	6512010	6512010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttcccgtgccgcccactActcctgcgccgggagtgcag	4	8	13	16	4	0	0	0	0	0	0	2	1	2	1	5	2	4	2	5	2	1	2			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:6512010A>G	ENST00000377828.1	+	10	2347	c.2179A>G	c.(2179-2181)Act>Gct	p.T727A	ESPN_ENST00000461727.1_Missense_Mutation_p.T161A|ESPN_ENST00000416731.1_Missense_Mutation_p.T161A|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	727	Pro-rich.				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)		GCCGCCCACTACTCCTGCGCC	0.667																																						.											0													22	24	23					1																	6512010		2200	4298	6498	SO:0001583	missense	83715			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.2179A>G	1.37:g.6512010A>G	ENSP00000367059:p.Thr727Ala		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.577|4.577	0.107208|0.107208	0.08780|0.08780	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000377828;ENST00000416731|ENST00000434576	T;D|.	0.82803|.	-0.1;-1.65|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.745694|.	0.13365|.	N|.	0.393397|.	T|T	0.38746|0.38746	0.1052|0.1052	L|L	0.31294|0.31294	0.92|0.92	0.31964|0.31964	N|N	0.608001|0.608001	P;B|.	0.44241|.	0.829;0.004|.	B;B|.	0.40864|.	0.342;0.006|.	T|T	0.45891|0.45891	-0.9230|-0.9230	10|5	0.13108|.	T|.	0.6|.	-25.3007|-25.3007	7.7898|7.7898	0.29114|0.29114	0.9056:0.0:0.0944:0.0|0.9056:0.0:0.0944:0.0	.|.	161;727|.	B1AK53-2;B1AK53|.	.;ESPN_HUMAN|.	A|C	727;161|70	ENSP00000367059:T727A;ENSP00000399239:T161A|.	ENSP00000367059:T727A|.	T|Y	+|+	1|2	0|0	ESPN|ESPN	6434597|6434597	0.938000|0.938000	0.31826|0.31826	1.000000|1.000000	0.80357|0.80357	0.183000|0.183000	0.23260|0.23260	3.684000|3.684000	0.54671|0.54671	1.943000|1.943000	0.56356|0.56356	0.402000|0.402000	0.26972|0.26972	ACT|TAC		0.667	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		G	6512010	A	G	6512010	3	3	34	1	0	0	0	0	1	0	0	0	5254	391	14	2	2217	2	ESPN	1	6512010	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10		6512010	242738611	1	2481											
PARS2	25973	ucsc.edu	37	chr1	55224826	55224826	+	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	gctctgcatcttgtcagcagCccttccatgacaccctggca	7	10	8	16	0	3	1	1	1	2	0	4	1	4	1	3	1	3	4	3	1	0	2			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:55224826C>T	ENST00000371279.3	-	2	91	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	3					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)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TTGTCAGCAGCCCTTCCATGA	0.572																																						.											0													18	17	17					1																	55224826		2201	4299	6500	SO:0001819	synonymous_variant	25973			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.9G>A	1.37:g.55224826C>T			A8K0W4|Q9H6S5|Q9UFT1	Silent	SNP	ENST00000371279.3	37	CCDS597.1																																																																																				0.572	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		T	55224826	C	T	55224826	2	4	34	1	0	0	0	0	0	0	0	1	11467	726	26	3		3	PARS2	1	55224826	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	48712816	55224826	194025795	2	2482											
AMPD2	271	broad.mit.edu	37	chr1	110169839	110169839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcagcacccgtatgAgcactgtgagccaagcacca	11	5	12	13	1	0	2	0	2	0	0	0	3	0	3	3	1	5	6	3	1	2	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:110169839A>G	ENST00000256578.3	+	7	1283	c.923A>G	c.(922-924)gAg>gGg	p.E308G	AMPD2_ENST00000528454.1_Missense_Mutation_p.E190G|AMPD2_ENST00000393688.3_Missense_Mutation_p.E189G|AMPD2_ENST00000342115.4_Missense_Mutation_p.E227G|AMPD2_ENST00000358729.4_Missense_Mutation_p.E233G|AMPD2_ENST00000528667.1_Missense_Mutation_p.E308G|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	308					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CACCCGTATGAGCACTGTGAG	0.662																																						.											0													81	88	86					1																	110169839		2203	4300	6503	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.923A>G	1.37:g.110169839A>G	ENSP00000256578:p.Glu308Gly		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.18|16.18	3.048861|3.048861	0.55110|0.55110	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.129125|.	0.51477|.	D|.	0.000096|.	T|.	0.45677|.	0.1354|.	L|L	0.40543|0.40543	1.245|1.245	0.49915|0.49915	D|D	0.999834|0.999834	P;B;B;B|.	0.35908|.	0.527;0.001;0.001;0.31|.	B;B;B;B|.	0.32624|.	0.149;0.003;0.002;0.084|.	T|.	0.43180|.	-0.9407|.	10|.	0.36615|.	T|.	0.2|.	-32.0982|-32.0982	13.3042|13.3042	0.60342|0.60342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	233;189;308;227|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	G|W	227;308;308;233;190;189|278	ENSP00000345498:E227G;ENSP00000436541:E308G;ENSP00000256578:E308G;ENSP00000351573:E233G;ENSP00000437164:E190G;ENSP00000377292:E189G|.	ENSP00000256578:E308G|.	E|X	+|+	2|3	0|0	AMPD2|AMPD2	109971362|109971362	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.910000|0.910000	0.53928|0.53928	5.672000|5.672000	0.68102|0.68102	1.974000|1.974000	0.57490|0.57490	0.379000|0.379000	0.24179|0.24179	GAG|TGA		0.662	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			G	110169839	A	G	110169839	3	3	34	1	0	0	0	0	1	0	0	0	586	304	11	2	990	2	AMPD2	1	110169839	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	54945013	110169839	139080782	3	2483											
PRG4	10216	bcgsc.ca	37	chr1	186276175	186276175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacccaccacccccaagAagcctgccccaactaccccc	10	3	4	24	0	0	1	0	0	0	1	0	1	0	1	9	0	5	1	9	0	4	1	rs140988757	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:186276175A>G	ENST00000445192.2	+	7	1369	c.1324A>G	c.(1324-1326)Aag>Gag	p.K442E	PRG4_ENST00000367486.3_Missense_Mutation_p.K399E|PRG4_ENST00000367485.4_Missense_Mutation_p.K349E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K401E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	442	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						CACCCCCAAGAAGCCTGCCCC	0.657													-|||	20	0.00399361	0.0144	0.0014	5008	,	,		8466	0		0	False		,,,				2504	0					.											0													75	83	80					1																	186276175		2203	4296	6499	SO:0001583	missense	10216			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.1324A>G	1.37:g.186276175A>G	ENSP00000399679:p.Lys442Glu		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.561	0.471796	0.12461	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04809	3.55;3.66;3.57;3.67	3.62	-0.972	0.10300	.	428.404000	0.00941	N	0.002827	T	0.01421	0.0046	N	0.00332	-1.63	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.42548	-0.9445	9	.	.	.	.	5.2924	0.15735	0.3354:0.2617:0.403:0.0	.	308;349;442;401	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	399;308;401;349;442	ENSP00000356456:K399E;ENSP00000356453:K401E;ENSP00000356455:K349E;ENSP00000399679:K442E	.	K	+	1	0	PRG4	184542798	.	.	0.001000	0.08648	0.010000	0.07245	.	.	-0.119000	0.11830	-0.386000	0.06593	AAG		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		G	186276175	A	G	186276175	3	3	34	1	0	0	0	0	1	0	0	0	12481	247	9	4	1346	4	PRG4	1	186276175	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	76106336	186276175	62974446	4	2484											
FBXO41	150726	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	73493739	73493739	+	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	ggagctcctcaatgaactgcTgcagccgcagcttggcgctg	7	8	13	13	2	1	1	1	1	0	0	2	2	2	2	2	2	6	6	2	2	2	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:73493739T>G	ENST00000521871.1	-	3	1392	c.977A>C	c.(976-978)cAg>cCg	p.Q326P	FBXO41_ENST00000295133.5_Missense_Mutation_p.Q387P|FBXO41_ENST00000520530.2_Missense_Mutation_p.Q326P			Q8TF61	FBX41_HUMAN	F-box protein 41	326										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AATGAACTGCTGCAGCCGCAG	0.677																																						.											0													26	30	29					2																	73493739		2012	4173	6185	SO:0001583	missense	150726			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.977A>C	2.37:g.73493739T>G	ENSP00000428646:p.Gln326Pro		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525616	0.64860	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	T;T	0.39997	1.05;1.05	5.17	5.17	0.71159	.	0.198803	0.44902	D	0.000409	T	0.60676	0.2287	L	0.61218	1.895	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.63024	-0.6729	10	0.56958	D	0.05	.	13.8113	0.63266	0.0:0.0:0.0:1.0	.	326	Q8TF61	FBX41_HUMAN	P	387;326;387	ENSP00000295133:Q387P;ENSP00000428646:Q326P	ENSP00000295133:Q387P	Q	-	2	0	FBXO41	73347247	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.001000	0.70685	1.948000	0.56530	0.372000	0.22366	CAG		0.677	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			G	73493739	T	G	73493739	3	3	34	1	0	0	0	0	1	0	0	0	5750	1580	55	5	1694	5	FBXO41	2	73493739	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10		73493739	169705634	5	2485											
TMEM127	55654	broad.mit.edu	37	chr2	96920609	96920609	+	Missense_Mutation	SNP	T	T	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	aggcatagcgacgagtgatcTtcagagcaggatgcttcggc	10	8	14	9	3	2	2	1	1	1	1	3	5	2	3	0	3	3	3	0	3	1	3	rs377430566		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:96920609T>C	ENST00000258439.3	-	3	627	c.371A>G	c.(370-372)aAg>aGg	p.K124R	TMEM127_ENST00000435268.1_Missense_Mutation_p.K40R|TMEM127_ENST00000432959.1_Missense_Mutation_p.K124R	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	124					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						ACGAGTGATCTTCAGAGCAGG	0.582																																						.											0								T	ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	158	152	154		371,371	5.9	1	2		154	0,8600		0,0,4300	no	missense,missense	TMEM127	NM_001193304.2,NM_017849.3	26,26	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	124/239,124/239	96920609	1,13005	2203	4300	6503	SO:0001583	missense	55654			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.371A>G	2.37:g.96920609T>C	ENSP00000258439:p.Lys124Arg		D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619625	0.66787	2.27E-4	0.0	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	D;D;D	0.83506	-1.73;-1.73;-1.73	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	N	0.03608	-0.345	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.78028	-0.2364	10	0.16420	T	0.52	-27.9347	15.3262	0.74164	0.0:0.0:0.0:1.0	.	124	O75204	TM127_HUMAN	R	124;124;40	ENSP00000258439:K124R;ENSP00000416660:K124R;ENSP00000411810:K40R	ENSP00000258439:K124R	K	-	2	0	TMEM127	96284336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.589000	0.82641	2.269000	0.75478	0.533000	0.62120	AAG		0.582	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		C	96920609	T	C	96920609	3	2	34	1	0	0	0	0	1	0	0	0	16037	1609	56	2	353	2	TMEM127	2	96920609	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10	23426870	96920609	146278764	6	2486											
INPP4A	3631	broad.mit.edu;mdanderson.org	37	chr2	99163146	99163146	+	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	aagctgcacaaatttgaagaGaccaagaaacagtaagtagc	19	6	9	7	0	0	3	0	1	0	2	0	4	0	3	1	0	4	4	1	0	7	3			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:99163146G>A	ENST00000523221.1	+	11	1152	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	INPP4A_ENST00000074304.5_Silent_p.E384E|INPP4A_ENST00000545415.1_Silent_p.E384E|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.E384E|INPP4A_ENST00000409540.3_Silent_p.E384E|INPP4A_ENST00000409016.4_Silent_p.E384E			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	384					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						AATTTGAAGAGACCAAGAAAC	0.438																																						.											0													55	56	56					2																	99163146		1874	4115	5989	SO:0001819	synonymous_variant	3631			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.1152G>A	2.37:g.99163146G>A			O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	CCDS46369.1																																																																																				0.438	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		A	99163146	G	A	99163146	2	1	34	1	0	0	0	0	0	0	0	1	7752	933	33	4		4	INPP4A	2	99163146	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	2242537	99163146	144036227	7	2487											
FOXD4L1	200350	mdanderson.org	37	chr2	114257162	114257162	+	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	gcagccggcaaagcccccctActcgtacatcgcgctcatca	9	6	8	18	4	2	0	2	0	0	0	4	0	2	0	4	1	4	4	4	1	3	2	rs201655302		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:114257162A>C	ENST00000306507.5	+	1	502	c.329A>C	c.(328-330)tAc>tCc	p.Y110S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	110					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AAGCCCCCCTACTCGTACATC	0.662																																						.											0													33	45	41					2																	114257162		2197	4271	6468	SO:0001583	missense	200350			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.329A>C	2.37:g.114257162A>C	ENSP00000302756:p.Tyr110Ser		B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	16.46	3.128625	0.56721	.	.	ENSG00000184492	ENST00000306507	D	0.95980	-3.87	2.85	2.85	0.33270	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.31404	U	0.007714	D	0.96222	0.8768	H	0.96048	3.76	0.58432	D	0.999999	B	0.27068	0.167	B	0.30716	0.119	D	0.95549	0.8619	10	0.62326	D	0.03	.	9.1315	0.36848	1.0:0.0:0.0:0.0	.	110	Q9NU39	FX4L1_HUMAN	S	110	ENSP00000302756:Y110S	ENSP00000302756:Y110S	Y	+	2	0	FOXD4L1	113973632	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.507000	0.66999	1.309000	0.44985	0.155000	0.16302	TAC		0.662	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		C	114257162	A	C	114257162	3	2	34	1	0	0	0	0	1	0	0	0	6000	391	14	5	331	5	FOXD4L1	2	114257162	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	15094016	114257162	128942211	8	2488											
SCN3A	6328	ucsc.edu	37	chr2	166032778	166032778	+	Missense_Mutation	SNP	T	T	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	tggtttgttctcatcatcatTatcttgttcctttttgggct	4	22	7	8	0	4	0	3	0	2	0	6	0	5	0	1	2	0	4	1	2	1	7	rs34236036|rs72471101	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:166032778T>C	ENST00000360093.3	-	3	618	c.127A>G	c.(127-129)Aat>Gat	p.N43D	SCN3A_ENST00000409101.3_Missense_Mutation_p.N43D|SCN3A_ENST00000283254.7_Missense_Mutation_p.N43D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	43			Missing. {ECO:0000269|PubMed:12610651}.		membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATCATCATTATCTTGTTCC	0.428																																						.											0													217	198	204					2																	166032778		2201	4280	6481	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.127A>G	2.37:g.166032778T>C	ENSP00000353206:p.Asn43Asp		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	2.695	-0.272189	0.05716	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;T	0.95656	-3.77;-3.77;-3.72;-3.6;8.06	4.68	3.34	0.38264	.	0.615244	0.15295	N	0.269958	T	0.73345	0.3575	N	0.00122	-2.065	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.73770	-0.3878	10	0.06236	T	0.91	.	3.2823	0.06920	0.0:0.3988:0.0:0.6012	.	43;43;43	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	D	43	ENSP00000353206:N43D;ENSP00000283254:N43D;ENSP00000386726:N43D;ENSP00000403348:N43D;ENSP00000391569:N43D	ENSP00000283254:N43D	N	-	1	0	SCN3A	165741024	0.797000	0.28877	0.992000	0.48379	0.893000	0.52053	1.361000	0.34136	1.873000	0.54277	0.260000	0.18958	AAT		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	166032778	T	C	166032778	3	2	34	1	0	0	0	0	1	0	0	0	13918	1754	61	4	6075	4	SCN3A	2	166032778	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10	51775616	166032778	77166595	9	2489											
TUBA4A	7277	broad.mit.edu	37	chr2	220115802	220115802	+	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	gcagatgtcatagattgcttCgttgtccaccatgaaggcac	10	11	10	10	1	1	3	1	1	0	2	3	3	2	3	2	1	1	4	2	1	2	4			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:220115802C>T	ENST00000248437.4	-	4	792	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	TUBA4A_ENST00000392088.2_Missense_Mutation_p.E192K|TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	207					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TAGATTGCTTCGTTGTCCACC	0.562																																						.											0													117	115	116					2																	220115802		2203	4300	6503	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.619G>A	2.37:g.220115802C>T	ENSP00000248437:p.Glu207Lys		A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323188	0.60634	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	T;T;T	0.70631	-0.5;-0.5;-0.5	5.44	5.44	0.79542	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	H	0.94847	3.59	0.80722	D	1	P	0.43477	0.808	P	0.44946	0.465	D	0.87852	0.2658	10	0.87932	D	0	.	19.4628	0.94924	0.0:1.0:0.0:0.0	.	207	P68366	TBA4A_HUMAN	K	207;192;54	ENSP00000248437:E207K;ENSP00000375938:E192K;ENSP00000396212:E54K	ENSP00000248437:E207K	E	-	1	0	TUBA4A	219824046	1.000000	0.71417	0.982000	0.44146	0.712000	0.41017	7.538000	0.82048	2.837000	0.97791	0.655000	0.94253	GAA		0.562	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		T	220115802	C	T	220115802	3	4	34	1	0	0	0	0	1	0	0	0	16746	893	31	1	731	1	TUBA4A	2	220115802	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	54083024	220115802	23083571	10	2490											
SPEG	10290	hgsc.bcm.edu;ucsc.edu	37	chr2	220354242	220354242	+	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	cctagccaggccttgtcctcGctcaaggctgtgggtccacc	5	9	11	16	1	1	0	1	0	0	0	4	0	3	0	6	3	1	2	6	3	2	2	rs148685205	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:220354242G>A	ENST00000312358.7	+	36	8634	c.8502G>A	c.(8500-8502)tcG>tcA	p.S2834S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2834	Pro-rich.				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)		CCTTGTCCTCGCTCAAGGCTG	0.682													G|||	11	0.00219649	8e-04	0	5008	,	,		9136	0.0079		0.001	False		,,,				2504	0.001					.											0								G		1,3893		0,1,1946	43	48	46		8502	-10.1	0.8	2	dbSNP_134	46	0,8246		0,0,4123	no	coding-synonymous	SPEG	NM_005876.4		0,1,6069	AA,AG,GG		0.0,0.0257,0.0082		2834/3268	220354242	1,12139	1947	4123	6070	SO:0001819	synonymous_variant	10290			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.8502G>A	2.37:g.220354242G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220354242	G	A	220354242	2	1	34	1	0	0	0	0	0	0	0	1	15035	1074	38	1		1	SPEG	2	220354242	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	238440	220354242	22845131	11	2491											
SEPT2	4735	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	242283310	242283310	+	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	ctgaagctgagaaccatgctCatgtaagacatttggtgtgt	11	12	11	7	0	1	3	1	2	0	2	1	4	1	3	1	1	3	3	1	1	3	2			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:242283310C>A	ENST00000391973.2	+	9	1368	c.840C>A	c.(838-840)ctC>ctA	p.L280L	SEPT2_ENST00000360051.3_Silent_p.L280L|SEPT2_ENST00000407971.1_Silent_p.L240L|SEPT2_ENST00000391971.2_Silent_p.L280L|SEPT2_ENST00000402092.2_Silent_p.L280L|SEPT2_ENST00000401990.1_Silent_p.L290L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	280	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GAACCATGCTCATGTAAGACA	0.507																																						.											0													168	160	163					2																	242283310		2203	4300	6503	SO:0001819	synonymous_variant	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.840C>A	2.37:g.242283310C>A			B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	37	CCDS2548.1																																																																																				0.507	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		A	242283310	C	A	242283310	2	1	34	1	0	0	0	0	0	0	0	1	14064	813	29	5		5	SEPT2	2	242283310	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	21929068	242283310	916063	12	2492											
RFT1	91869	broad.mit.edu	37	chr3	53139767	53139767	+	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	aaactttcctctattggctgGaaaattaatctggccacaag	13	12	7	9	0	2	0	0	0	2	0	3	1	3	1	2	3	1	1	2	3	6	4			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:53139767G>A	ENST00000296292.3	-	9	940	c.879C>T	c.(877-879)ttC>ttT	p.F293F	RFT1_ENST00000394738.3_Silent_p.F254F	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	293					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTATTGGCTGGAAAATTAATC	0.358																																						.											0													54	60	58					3																	53139767		2203	4300	6503	SO:0001819	synonymous_variant	91869			AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"congenital disorder of glycosylation 1N"	611908	"RFT1, requiring fifty three 1 homolog (S. cerevisiae)"			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.879C>T	3.37:g.53139767G>A			Q96J03	Silent	SNP	ENST00000296292.3	37	CCDS2869.1																																																																																				0.358	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		A	53139767	G	A	53139767	2	1	34	1	0	0	0	0	0	0	0	1	13257	1165	41	3		3	RFT1	3	53139767	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10		53139767	144882663	13	2493											
ALCAM	214	broad.mit.edu	37	chr3	105269023	105269023	+	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	ttatagtaaaattatcatttCccctgaagagaatgttacat	15	15	5	6	0	1	2	1	1	0	1	2	3	2	2	2	0	1	2	2	0	8	6			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:105269023C>T	ENST00000306107.5	+	12	1927	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	ALCAM_ENST00000486979.2_Missense_Mutation_p.S425F|ALCAM_ENST00000472644.2_Missense_Mutation_p.S476F|ALCAM_ENST00000389927.4_Missense_Mutation_p.S198F	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	476	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATTATCATTTCCCCTGAAGAG	0.343																																						.											0													91	110	104					3																	105269023		2201	4294	6495	SO:0001583	missense	214			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1427C>T	3.37:g.105269023C>T	ENSP00000305988:p.Ser476Phe		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187352	0.78789	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.16324	3.78;3.78;3.78;2.35	5.92	5.92	0.95590	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.362066	0.33005	N	0.005388	T	0.31104	0.0786	N	0.24115	0.695	0.48288	D	0.999628	D;D;D	0.71674	0.998;0.995;0.995	D;P;D	0.68483	0.958;0.876;0.913	T	0.02958	-1.1089	10	0.66056	D	0.02	-9.5915	20.3343	0.98733	0.0:1.0:0.0:0.0	.	198;476;476	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	F	476;476;425;198	ENSP00000305988:S476F;ENSP00000419236:S476F;ENSP00000418213:S425F;ENSP00000374577:S198F	ENSP00000305988:S476F	S	+	2	0	ALCAM	106751713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.059000	0.64306	2.822000	0.97130	0.650000	0.86243	TCC		0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		T	105269023	C	T	105269023	3	4	34	1	0	0	0	0	1	0	0	0	487	855	30	3	1473	3	ALCAM	3	105269023	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	52129256	105269023	92753407	14	2494											
PARP14	54625	broad.mit.edu	37	chr3	122433231	122433231	+	Frame_Shift_Del	DEL	G	G	-																															cctctgttttgcaggagtgtGaaaaaaaaaattactcatcc																										TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:122433231delG	ENST00000474629.2	+	12	4221	c.3955delG	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {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)		GCAGGAGTGTGAAAAAAAAAA	0.423																																						.											0													58	56	57					3																	122433231		1887	4111	5998	SO:0001589	frameshift_variant	54625			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.3955delG	3.37:g.122433231delG	ENSP00000418194:p.Glu1319fs		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Del	DEL	ENST00000474629.2	37	CCDS46894.1																																																																																				0.423	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		-	122433231	G	-	122433231	7	5	34	1	0	1	0	1	0	0	0	0	11458	1291	45	0	4001	0	PARP14	3	122433231	Frame_Shift_Del	DEL	G	TCGA-KN-8418-01A-11D-2310-10	17164208	122433231	75589199	15	2495											
C3orf34	84984	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	196434505	196434505	+	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	ttcaacctcaatgtcataaaCaaaatttggatcatccttct	14	14	3	10	0	5	0	4	0	1	0	6	1	6	1	2	1	2	0	2	1	6	4			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:196434505C>A	ENST00000399942.4	-	2	598	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	CEP19_ENST00000409690.3_Missense_Mutation_p.V141F|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	137						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGTCATAAACAAAATTTGGA	0.408																																						.											0													154	143	147					3																	196434505		1913	4132	6045	SO:0001583	missense	84984			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"chromosome 3 open reading frame 34"	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.304G>T	3.37:g.196434505C>A	ENSP00000382823:p.Val102Phe		B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.932672	0.73442	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.66	5.66	0.87406	.	0.112186	0.64402	D	0.000011	T	0.69753	0.3146	M	0.73962	2.25	0.48395	D	0.999649	D	0.56746	0.977	P	0.56648	0.803	T	0.70981	-0.4724	9	0.51188	T	0.08	-19.7616	12.9512	0.58401	0.0:0.8851:0.0:0.1149	.	137	Q96LK0	CEP19_HUMAN	F	141;102	.	ENSP00000382823:V102F	V	-	1	0	CEP19	197918902	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.777000	0.47717	2.832000	0.97577	0.655000	0.94253	GTT		0.408	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		A	196434505	C	A	196434505	3	1	34	1	0	0	0	0	1	0	0	0	2224	478	17	5	86	5	C3orf34	3	196434505	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	74001274	196434505	1587925	16	2496											
PRKAA1	5562	broad.mit.edu	37	chr5	40775606	40775606	+	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	gtgtactgatgacctggtacCtggtgagagaaaacattgtc	11	11	12	7	0	0	4	0	3	0	1	1	5	0	4	2	2	3	2	2	2	4	3			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:40775606C>T	ENST00000397128.2	-	3	278		c.e3-1		PRKAA1_ENST00000354209.3_Splice_Site|PRKAA1_ENST00000296800.4_Splice_Site	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit						activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[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)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GACCTGGTACCTGGTGAGAGA	0.353																																						.											0													105	92	96					5																	40775606		1836	4079	5915	SO:0001630	splice_region_variant	5562				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.270-1G>A	5.37:g.40775606C>T			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Splice_Site	SNP	ENST00000397128.2	37	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477067	0.84640	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2799	0.90096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC008810.1	40811363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.391000	0.81399	0.585000	0.79938	.		0.353	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251	Intron	T	40775606	C	T	40775606	5	4	34	1	0	0	0	0	0	0	1	0	12493	695	24	4	1487	4	PRKAA1	5	40775606	Splice_Site	SNP	C	TCGA-KN-8418-01A-11D-2310-10		40775606	140139654	17	2497											
HEATR7B2	133558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr5	41045851	41045851	+	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	tcagctgaaaaaccaaccttCtcagtggagttattgctgta	12	12	8	9	0	2	1	2	1	1	0	3	2	2	2	2	1	4	4	2	1	5	4			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:41045851C>T	ENST00000399564.4	-	18	2283	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	MROH2B_ENST00000506092.2_Silent_p.E166E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	611								p.E611E(1)									AACCAACCTTCTCAGTGGAGT	0.443																																						.											1	Substitution - coding silent(1)	kidney(1)											170	162	164					5																	41045851		1949	4152	6101	SO:0001819	synonymous_variant	133558				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.1833G>A	5.37:g.41045851C>T			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41045851	C	T	41045851	2	4	34	1	0	0	0	0	0	0	0	1	7035	912	32	4		4	HEATR7B2	5	41045851	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	270245	41045851	139869409	18	2498											
DHFR	1719	broad.mit.edu;mdanderson.org	37	chr5	79945302	79945302	+	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	cttcttacccataatcaccaGattctgtttacctataaaat	13	15	2	11	0	3	1	1	0	2	1	3	1	3	1	3	0	2	1	3	0	6	8			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:79945302G>A	ENST00000439211.2	-	3	641	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	DHFR_ENST00000505337.1_Silent_p.L50L|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_5'UTR|DHFR_ENST00000511032.1_Silent_p.L50L	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	50	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)	ATAATCACCAGATTCTGTTTA	0.323																																						.											0													74	71	72					5																	79945302		2010	4199	6209	SO:0001819	synonymous_variant	1719				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.148C>T	5.37:g.79945302G>A			B4DDD2|Q14130|Q6IRW8	Silent	SNP	ENST00000439211.2	37	CCDS47240.1																																																																																				0.323	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		A	79945302	G	A	79945302	2	1	34	1	0	0	0	0	0	0	0	1	4481	933	33	4		4	DHFR	5	79945302	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	38899451	79945302	100969958	19	2499											
ATXN1	6310	broad.mit.edu	37	chr6	16326646	16326646	+	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	tgggctcggtgctccccgacGgcgaactgtatcacggccac	6	7	13	15	5	1	0	1	0	0	0	3	2	2	0	3	4	2	3	3	4	2	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr6:16326646G>A	ENST00000244769.4	-	8	2832	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	ATXN1_ENST00000436367.1_Silent_p.A632A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	632	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				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)				GCTCCCCGACGGCGAACTGTA	0.577																																						.											0													64	67	66					6																	16326646		2203	4300	6503	SO:0001819	synonymous_variant	6310			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.1896C>T	6.37:g.16326646G>A			Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																				0.577	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16326646	G	A	16326646	2	1	34	1	0	0	0	0	0	0	0	1	1209	1103	39	1		1	ATXN1	6	16326646	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10		16326646	154788421	20	2500											
HEATR2	54919	mdanderson.org	37	chr7	814788	814788	+	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	ggatccagagaaactcatcaGgatttatcctggtaggacat	13	10	10	8	0	2	1	2	0	0	1	4	5	4	4	2	4	1	1	2	4	3	3	rs3922641	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:814788G>A	ENST00000297440.6	+	11	2248	c.2228G>A	c.(2227-2229)aGg>aAg	p.R743K	HEATR2_ENST00000313147.5_Missense_Mutation_p.R743K|HEATR2_ENST00000403952.3_Missense_Mutation_p.R168K	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	743			R -> K (in dbSNP:rs3922641). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACTCATCAGGATTTATCCT	0.498											OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	3349	0.66873	0.7413	0.6744	5008	,	,		19595	0.62		0.6054	False		,,,				2504	0.682					.											0									LYS/ARG	3053,1353	448.3+/-348.6	1066,921,216	78	78	78		2228	2.8	0.8	7	dbSNP_108	78	5101,3499	509.6+/-377.3	1531,2039,730	yes	missense	HEATR2	NM_017802.3	26	2597,2960,946	AA,AG,GG		40.686,30.7081,37.3059	benign	743/856	814788	8154,4852	2203	4300	6503	SO:0001583	missense	54919			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2228G>A	7.37:g.814788G>A	ENSP00000297440:p.Arg743Lys	591	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	CCDS34580.1	1426	0.6529304029304029	382	0.7764227642276422	238	0.6574585635359116	362	0.6328671328671329	444	0.5857519788918206	A	3.916	-0.019136	0.07634	0.692919	0.59314	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862;ENST00000403952	T;T;T	0.65916	-0.18;-0.18;-0.18	5.15	2.76	0.32466	Armadillo-like helical (1);Armadillo-type fold (1);	0.158601	0.56097	N	0.000039	T	0.00012	0.0000	N	0.00419	-1.52	0.54753	P	1.0999999999983245E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44997	-0.9291	9	0.02654	T	1	-37.6408	8.382	0.32477	0.7649:0.0:0.2351:0.0	rs3922641;rs4333481;rs17135871;rs17355743;rs35235720;rs3922641	743;168;489	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	K	743;743;489;168	ENSP00000297440:R743K;ENSP00000321451:R743K;ENSP00000384884:R168K	ENSP00000297440:R743K	R	+	2	0	HEATR2	781314	1.000000	0.71417	0.786000	0.31890	0.907000	0.53573	0.903000	0.28475	0.009000	0.14813	-0.361000	0.07541	AGG		0.498	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		A	814788	G	A	814788	3	1	34	1	0	0	0	0	1	0	0	0	7028	1000	35	4	2270	4	HEATR2	7	814788	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10		814788	158323875	21	2501											
SRRM3	222183	broad.mit.edu	37	chr7	75914932	75914933	+	Splice_Site	INS	-	-	C																															cagctttttcttcccggcagINScgccgcaagcgtcctattcc																										TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:75914932_75914933insC	ENST00000326382.8	+	15	1940_1941		c.e15-1		SRRM3_ENST00000388802.4_Splice_Site	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CTTCCCGGCAGCGCCGCAAGCG	0.658																																						.											0																																										SO:0001630	splice_region_variant	222183			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.1734-1->C	7.37:g.75914933_75914933dupC			A6ND75	Splice_Site	INS	ENST00000326382.8	37																																																																																					0.658	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199	Intron	C	75914933	-	C	75914932	8	5	34	1	0	1	1	0	0	0	1	0	15169	985	34	0	1787	0	SRRM3	7	75914932	Splice_Site	INS	-	TCGA-KN-8418-01A-11D-2310-10	75100144	75914932	83223731	22	2502											
MLL3	58508	mdanderson.org	37	chr7	151932990	151932990	+	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	gtcctgcacctcgaggtctcCgctttcctggaaatccagac	7	10	9	15	2	1	1	0	0	1	1	6	3	4	2	5	2	1	2	5	2	1	1	rs76844681		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:151932990C>T	ENST00000262189.6	-	16	2899	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R894Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	894					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)										TCGAGGTCTCCGCTTTCCTGG	0.502																																						.											0													33	34	33					7																	151932990		2202	4295	6497	SO:0001583	missense	58508			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.2681G>A	7.37:g.151932990C>T	ENSP00000262189:p.Arg894Gln		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710284	0.89018	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89485	-2.5;-2.52	5.1	5.1	0.69264	.	0.000000	0.42294	D	0.000721	D	0.93314	0.7869	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.93742	0.7051	10	0.66056	D	0.02	.	17.0444	0.86498	0.0:1.0:0.0:0.0	.	894	Q8NEZ4	MLL3_HUMAN	Q	894	ENSP00000262189:R894Q;ENSP00000347325:R894Q	ENSP00000262189:R894Q	R	-	2	0	MLL3	151563923	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.268000	0.78473	2.530000	0.85305	0.650000	0.86243	CGG		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151932990	C	T	151932990	3	4	34	1	0	0	0	0	1	0	0	0	9622	652	23	1	12230	1	MLL3	7	151932990	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	76018058	151932990	7205673	23	2503											
FAM86B1	85002	mdanderson.org	37	chr8	12042969	12042969	+	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	aggagcccgcttgtgctcccGgcaggcagccagcctctgca	6	6	13	16	2	1	0	0	0	1	0	2	1	2	1	4	3	5	5	4	3	0	1	rs201172089	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr8:12042969G>A	ENST00000448228.2	-	6	755	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	FAM86B1_ENST00000321602.8_Missense_Mutation_p.R42W|FAM86B1_ENST00000533852.2_Missense_Mutation_p.R270W|FAM86B1_ENST00000534520.1_Missense_Mutation_p.P147L	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	236										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TTGTGCTCCCGGCAGGCAGCC	0.612																																						.											0													7	9	8					8																	12042969		1359	2492	3851	SO:0001583	missense	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.706C>T	8.37:g.12042969G>A	ENSP00000407067:p.Arg236Trp			Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.982|7.982	0.751471|0.751471	0.15778|0.15778	.|.	.|.	ENSG00000186523|ENSG00000186523	ENST00000340537;ENST00000534520|ENST00000431227;ENST00000448228;ENST00000321602;ENST00000526708	T;T|T;T	0.19806|0.26810	2.12;2.12|3.26;1.71	1.17|1.17	1.17|1.17	0.20885|0.20885	.|.	35.965900|.	0.00520|.	U|.	0.000195|.	T|T	0.20536|0.20536	0.0494|0.0494	M|M	0.66378|0.66378	2.025|2.025	0.09310|0.09310	N|N	1|1	.|B;B;P;B	.|0.35481	.|0.001;0.013;0.504;0.127	.|B;B;B;B	.|0.20955	.|0.01;0.016;0.032;0.009	T|T	0.18903|0.18903	-1.0322|-1.0322	8|9	0.87932|0.56958	D|D	0|0.05	.|.	5.7595|5.7595	0.18192|0.18192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;270;42;79	.|Q8N7N1;E9PN63;F6QN85;Q4KMP3	.|F86B1_HUMAN;.;.;.	L|W	147|270;236;42;270	ENSP00000342610:P147L;ENSP00000431362:P147L|ENSP00000407067:R236W;ENSP00000439686:R42W	ENSP00000342610:P147L|ENSP00000439686:R42W	P|R	-|-	2|1	0|2	FAM86B1|FAM86B1	12080378|12080378	0.886000|0.886000	0.30341|0.30341	0.007000|0.007000	0.13788|0.13788	0.004000|0.004000	0.04260|0.04260	0.669000|0.669000	0.25142|0.25142	0.950000|0.950000	0.37743|0.37743	0.173000|0.173000	0.16961|0.16961	CCG|CGG		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		A	12042969	G	A	12042969	3	1	34	1	0	0	0	0	1	0	0	0	5644	1115	39	1	192	1	FAM86B1	8	12042969	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10		12042969	134321053	24	2504											
FAM86B2	653333	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr8	12287958	12287958	+	Missense_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	ggctccgtgtggacagcctcGtgctgggggcagacagagtg	6	7	18	10	2	0	2	0	0	0	2	2	3	1	3	2	4	2	3	2	4	0	0	rs567088130	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr8:12287958G>T	ENST00000262365.4	-	4	242	c.243C>A	c.(241-243)caC>caA	p.H81Q	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	81										endometrium(1)|kidney(2)	3						GGACAGCCTCGTGCTGGGGGC	0.537																																						.											0													8	13	11					8																	12287958		680	1574	2254	SO:0001583	missense	653333				CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.243C>A	8.37:g.12287958G>T	ENSP00000262365:p.His81Gln			Missense_Mutation	SNP	ENST00000262365.4	37	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	-	4.395	0.072989	0.08485	.	.	ENSG00000145002	ENST00000262365	T	0.24538	1.85	1.16	0.223	0.15292	.	.	.	.	.	T	0.20495	0.0493	L	0.56769	1.78	0.80722	D	1	B	0.17852	0.024	B	0.14578	0.011	T	0.08166	-1.0735	9	0.51188	T	0.08	.	3.3083	0.07007	0.2978:0.0:0.7022:0.0	.	81	P0C5J1	F86B2_HUMAN	Q	81	ENSP00000262365:H81Q	ENSP00000262365:H81Q	H	-	3	2	FAM86B2	12332329	0.305000	0.24481	0.987000	0.45799	0.116000	0.19942	-0.569000	0.05902	0.061000	0.16311	0.162000	0.16502	CAC		0.537	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		T	12287958	G	T	12287958	3	4	34	1	0	0	0	0	1	0	0	0	5645	1136	40	5	769	5	FAM86B2	8	12287958	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10	244989	12287958	134076064	25	2505											
NOTCH1	4851	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	139395222	139395222	+	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	gtcggagatgacggccggcgCgtcctcctcttcctcgctgt	3	10	13	15	6	1	2	0	1	1	1	6	3	4	2	4	3	0	1	4	3	0	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr9:139395222C>T	ENST00000277541.6	-	31	5791	c.5716G>A	c.(5716-5718)Gcg>Acg	p.A1906T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1906					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)		ACGGCCGGCGCGTCCTCCTCT	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													37	46	43					9																	139395222		2113	4229	6342	SO:0001583	missense	4851			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.5716G>A	9.37:g.139395222C>T	ENSP00000277541:p.Ala1906Thr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261608	0.59431	.	.	ENSG00000148400	ENST00000277541	D	0.82255	-1.59	4.6	3.7	0.42460	Ankyrin repeat-containing domain (3);	0.168956	0.51477	D	0.000085	T	0.78761	0.4334	L	0.27053	0.805	0.58432	D	0.999992	P	0.40332	0.713	P	0.48840	0.592	T	0.74420	-0.3671	10	0.27082	T	0.32	.	11.9893	0.53166	0.0:0.9143:0.0:0.0857	.	1906	P46531	NOTC1_HUMAN	T	1906	ENSP00000277541:A1906T	ENSP00000277541:A1906T	A	-	1	0	NOTCH1	138515043	1.000000	0.71417	0.828000	0.32881	0.220000	0.24768	3.737000	0.55060	1.084000	0.41184	0.536000	0.68110	GCG		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139395222	C	T	139395222	3	4	34	1	0	0	0	0	1	0	0	0	10547	768	27	1	1967	1	NOTCH1	9	139395222	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10		139395222	1818209	26	2506											
PITRM1	10531	mdanderson.org	37	chr10	3208557	3208557	+	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	ccagtactgtccatgggagtAgtacggaactgcacgctagg	10	8	13	10	2	0	0	0	0	0	0	1	2	1	2	2	3	4	5	2	3	5	4	rs12359035	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:3208557A>G	ENST00000224949.4	-	4	316	c.282T>C	c.(280-282)acT>acC	p.T94T	PITRM1_ENST00000451104.2_Silent_p.T62T|PITRM1_ENST00000380989.2_Silent_p.T94T|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	94					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						CCATGGGAGTAGTACGGAACT	0.493													G|||	3203	0.639577	0.5915	0.5807	5008	,	,		19010	0.6042		0.7018	False		,,,				2504	0.7188					.											0								G	,,	2671,1411		877,917,247	107	107	107		282,186,282	-5.1	0.2	10	dbSNP_120	107	6043,2313		2165,1713,300	no	coding-synonymous,coding-synonymous,coding-synonymous	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	3042,2630,547	GG,GA,AA		27.6807,34.5664,29.9405	,,	94/1039,62/940,94/1038	3208557	8714,3724	2041	4178	6219	SO:0001819	synonymous_variant	10531			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.282T>C	10.37:g.3208557A>G			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	CCDS59208.1																																																																																				0.493	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			G	3208557	A	G	3208557	2	3	34	1	0	0	0	0	0	0	0	1	11953	407	15	2		2	PITRM1	10	3208557	Silent	SNP	A	TCGA-KN-8418-01A-11D-2310-10		3208557	132326190	27	2507											
MSRB2	22921	broad.mit.edu	37	chr10	23399207	23399207	+	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	acctgaataacaaggaagcaGgaatgtatcattgcgtgtgc	14	9	11	7	1	1	1	1	1	0	0	1	3	1	3	1	2	4	2	1	2	6	3			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:23399207G>A	ENST00000376510.3	+	3	359	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	86					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CAAGGAAGCAGGAATGTATCA	0.433																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	.											0													101	97	99					10																	23399207		1932	4138	6070	SO:0001583	missense	22921			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"methionine sulfoxide reductase B"	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.256G>A	10.37:g.23399207G>A	ENSP00000365693:p.Gly86Arg		Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420404	0.83559	.	.	ENSG00000148450	ENST00000376510	D	0.93247	-3.19	5.83	5.83	0.93111	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99215	1.0877	10	0.87932	D	0	-21.1633	18.8761	0.92337	0.0:0.0:1.0:0.0	.	86	Q9Y3D2	MSRB2_HUMAN	R	86	ENSP00000365693:G86R	ENSP00000365693:G86R	G	+	1	0	MSRB2	23439213	1.000000	0.71417	0.289000	0.24876	0.741000	0.42261	7.676000	0.84012	2.762000	0.94881	0.655000	0.94253	GGA		0.433	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		A	23399207	G	A	23399207	3	1	34	1	0	0	0	0	1	0	0	0	9888	1001	35	4	266	4	MSRB2	10	23399207	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10	20190650	23399207	112135540	28	2508											
EIF5AL1	143244	mdanderson.org	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-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	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																																						.											0													30	32	32					10																	81272627		2202	4289	6491	SO:0001819	synonymous_variant	143244				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				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	34	1	0	0	0	0	0	0	0	1	5043	1132	40	1		1	EIF5AL1	10	81272627	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	57873420	81272627	54262120	29	2509											
INPP5F	79892	ucsc.edu	37	chr10	121587065	121587065	+	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	cagggcttcatgtaactcctTctccttcagagagcagtagc	9	11	9	12	0	3	1	2	0	1	1	5	2	4	1	2	1	3	4	2	1	2	5	rs201053908|rs148162878	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:121587065T>C	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.S448P|INPP5F_ENST00000361976.2_Missense_Mutation_p.S1058P	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TGTAACTCCTTCTCCTTCAGA	0.493																																						.											0								T	PRO/SER	1,4405	2.1+/-5.4	0,1,2202	106	104	105		3172	4.5	1	10	dbSNP_134	105	0,8600		0,0,4300	yes	missense	INPP5F	NM_014937.3	74	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	1058/1133	121587065	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587065T>C			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757919	0.69648	2.27E-4	0.0	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.59906	0.65;0.23	5.63	4.5	0.54988	.	0.296722	0.37483	N	0.002064	T	0.70718	0.3256	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.72337	-0.4324	10	0.87932	D	0	-18.4272	11.441	0.50096	0.0:0.0707:0.0:0.9293	.	448;1058	Q5W135;Q9Y2H2	.;SAC2_HUMAN	P	1058;448	ENSP00000354519:S1058P;ENSP00000358076:S448P	ENSP00000354519:S1058P	S	+	1	0	INPP5F	121577055	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.090000	0.71397	0.983000	0.38602	0.358000	0.22013	TCT		0.493	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		C	121587065	T	C	121587065	1	2	34	0	1	0	0	0	0	0	0	0	7758	1783	62	4		4	INPP5F	10	121587065	IGR	SNP	T	TCGA-KN-8418-01A-11D-2310-10	40314438	121587065	13947682	30	2510											
BDNF	627	mdanderson.org;bcgsc.ca	37	chr11	27679447	27679447	+	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	gccagccaattctctttttgCtatccatggtaagggcccgc	7	12	9	13	1	1	0	0	0	1	0	3	0	2	0	4	2	2	2	4	2	3	5			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:27679447C>T	ENST00000525528.1	-	1	1758	c.665G>A	c.(664-666)aGc>aAc	p.S222N	BDNF_ENST00000533246.1_Missense_Mutation_p.S222N|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395978.3_Missense_Mutation_p.S222N|BDNF_ENST00000395983.3_Missense_Mutation_p.S222N|BDNF_ENST00000395980.2_Missense_Mutation_p.S222N|BDNF_ENST00000525950.1_Missense_Mutation_p.S222N|BDNF_ENST00000420794.1_Missense_Mutation_p.S222N|BDNF_ENST00000395981.3_Missense_Mutation_p.S222N|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.S222N|BDNF_ENST00000533131.1_Missense_Mutation_p.S222N|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.S222N|BDNF_ENST00000532997.1_Missense_Mutation_p.S222N|BDNF_ENST00000418212.1_Missense_Mutation_p.S222N|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.S230N|BDNF_ENST00000356660.4_Missense_Mutation_p.S222N|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.S237N|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.S304N	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	222					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TCTCTTTTTGCTATCCATGGT	0.443																																						.											0													113	116	115					11																	27679447		2202	4299	6501	SO:0001583	missense	627			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.665G>A	11.37:g.27679447C>T	ENSP00000437138:p.Ser222Asn		A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231555	0.22626	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	6.08	4.01	0.46588	Nerve growth factor-related (4);	0.121472	0.85682	N	0.000000	T	0.43986	0.1272	N	0.10972	0.075	0.50467	D	0.999871	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0	T	0.42241	-0.9463	10	0.87932	D	0	-9.2797	6.7291	0.23373	0.0:0.699:0.0:0.301	.	251;304;230;222;237	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	N	222;222;237;222;222;222;222;222;222;304;222;222;222;222;222;230;222;174	ENSP00000389345:S222N;ENSP00000437138:S222N;ENSP00000379309:S237N;ENSP00000432727:S222N;ENSP00000349084:S222N;ENSP00000400502:S222N;ENSP00000432376:S222N;ENSP00000435564:S222N;ENSP00000379307:S222N;ENSP00000414303:S304N;ENSP00000379304:S222N;ENSP00000435805:S222N;ENSP00000379305:S222N;ENSP00000379302:S222N;ENSP00000432035:S222N;ENSP00000320002:S230N;ENSP00000389564:S222N	ENSP00000320002:S230N	S	-	2	0	BDNF	27636023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.053000	0.49901	1.575000	0.49775	0.591000	0.81541	AGC		0.443	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		T	27679447	C	T	27679447	3	4	34	1	0	0	0	0	1	0	0	0	1394	797	28	4	82	4	BDNF	11	27679447	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10		27679447	107327069	31	2511											
MTA2	9219	broad.mit.edu	37	chr11	62367694	62367694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtccctgcgccggaaaAgacagacaacctttgcctcc	12	7	8	14	2	0	2	0	0	0	2	2	3	2	3	5	1	3	0	5	1	4	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:62367694A>G	ENST00000278823.2	-	3	523	c.134T>C	c.(133-135)cTt>cCt	p.L45P	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	45	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						gcgccggaaaagacagacaac	0.443																																						.											0													125	125	125					11																	62367694		2202	4299	6501	SO:0001583	missense	9219			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.134T>C	11.37:g.62367694A>G	ENSP00000278823:p.Leu45Pro		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589262	0.86851	.	.	ENSG00000149480	ENST00000278823	D	0.86432	-2.12	5.56	5.56	0.83823	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.87777	0.2609	10	0.56958	D	0.05	-13.1504	12.1235	0.53905	1.0:0.0:0.0:0.0	.	45	O94776	MTA2_HUMAN	P	45	ENSP00000278823:L45P	ENSP00000278823:L45P	L	-	2	0	MTA2	62124270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.461000	0.66699	2.125000	0.65367	0.533000	0.62120	CTT		0.443	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		G	62367694	A	G	62367694	3	3	34	1	0	0	0	0	1	0	0	0	9909	72	3	2	1936	2	MTA2	11	62367694	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	34688247	62367694	72638822	32	2512											
BACE1	23621	broad.mit.edu;hgsc.bcm.edu	37	chr11	117163878	117163880	+	In_Frame_Del	DEL	CAG	CAG	-																															taccagagactgcctgtgtaCagcgagtggtcgatacctcc																										TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:117163878_117163880delCAG	ENST00000313005.6	-	5	1190_1192	c.730_732delCTG	c.(730-732)ctgdel	p.L244del	BACE1_ENST00000428381.2_In_Frame_Del_p.L175del|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_In_Frame_Del_p.L244del|BACE1_ENST00000392937.6_In_Frame_Del_p.L144del|BACE1_ENST00000445823.2_In_Frame_Del_p.L200del|BACE1_ENST00000513780.1_In_Frame_Del_p.L219del|BACE1_ENST00000510630.1_In_Frame_Del_p.L119del	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	244					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	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;0.000563)|all cancers(92;0.0032)		TGCCTGTGTACAGCGAGTGGTCG	0.512																																						.											0																																										SO:0001651	inframe_deletion	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.730_732delCTG	11.37:g.117163878_117163880delCAG	ENSP00000318585:p.Leu244del		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	In_Frame_Del	DEL	ENST00000313005.6	37	CCDS8383.1																																																																																				0.512	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			-	117163880	CAG	-	117163878	7	5	34	1	0	1	0	1	0	0	0	0	1281	465	17	0	793	0	BACE1	11	117163878	In_Frame_Del	DEL	CAG	TCGA-KN-8418-01A-11D-2310-10	54796184	117163878	17842638	33	2513	72	2									
BACE1	23621	bcgsc.ca	37	chr11	117163879	117163881	+	In_Frame_Del	DEL	CAG	CAG	-																															accagagactgcctgtgtacAgcgagtggtcgatacctcca																										TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:117163879_117163881delCAG	ENST00000313005.6	-	5	1189_1191	c.729_731delCTG	c.(727-732)tcctgg>tcg	p.W244del	BACE1_ENST00000428381.2_In_Frame_Del_p.W175del|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_In_Frame_Del_p.W244del|BACE1_ENST00000392937.6_In_Frame_Del_p.W144del|BACE1_ENST00000445823.2_In_Frame_Del_p.W200del|BACE1_ENST00000513780.1_In_Frame_Del_p.W219del|BACE1_ENST00000510630.1_In_Frame_Del_p.W119del	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	244					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	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;0.000563)|all cancers(92;0.0032)		GCCTGTGTACAGCGAGTGGTCGA	0.512																																						.											0																																										SO:0001651	inframe_deletion	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.729_731delCTG	11.37:g.117163879_117163881delCAG	ENSP00000318585:p.Trp244del		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	In_Frame_Del	DEL	ENST00000313005.6	37	CCDS8383.1																																																																																				0.512	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			-	117163881	CAG	-	117163879	7	5	34	1	0	1	0	1	0	0	0	0	1281	188	7	0	794	0	BACE1	11	117163879	In_Frame_Del	DEL	CAG	TCGA-KN-8418-01A-11D-2310-10	1	117163879	17842637	34	2514	72	2									
VWF	7450	ucsc.edu	37	chr12	6181608	6181608	+	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	cttcatccaggagctgtcccTctggggtcaagggcatcaag	8	9	12	12	0	4	0	3	0	1	0	6	1	6	1	2	4	1	2	2	4	2	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr12:6181608T>C	ENST00000261405.5	-	9	1252	c.998A>G	c.(997-999)gAg>gGg	p.E333G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	333	TIL 1.				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)	GAGCTGTCCCTCTGGGGTCAA	0.572																																						.											0													74	58	63					12																	6181608		2203	4300	6503	SO:0001630	splice_region_variant	7450				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.998-1A>G	12.37:g.6181608T>C			Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868610	0.72065	.	.	ENSG00000110799	ENST00000261405	D	0.91577	-2.87	5.55	5.55	0.83447	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.43919	D	0.000511	D	0.95847	0.8648	M	0.88450	2.955	0.80722	D	1	P;D	0.71674	0.775;0.998	B;D	0.83275	0.438;0.996	D	0.96404	0.9299	10	0.66056	D	0.02	.	14.5333	0.67942	0.0:0.0:0.0:1.0	.	333;333	B4DNX0;P04275	.;VWF_HUMAN	G	333	ENSP00000261405:E333G	ENSP00000261405:E333G	E	-	2	0	VWF	6051869	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.258000	0.32944	2.112000	0.64535	0.459000	0.35465	GAG		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation	C	6181608	T	C	6181608	5	2	34	1	0	0	0	0	0	0	1	0	17243	1565	54	2	7619	2	VWF	12	6181608	Splice_Site	SNP	T	TCGA-KN-8418-01A-11D-2310-10		6181608	127670287	35	2515											
SPERT	220082	mdanderson.org	37	chr13	46288145	46288145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgcgcgccctgcggAagatggtcagcaacatgtcc	9	6	14	12	3	1	1	1	0	0	1	2	3	2	3	2	3	5	2	2	3	2	0	rs7317245	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr13:46288145A>G	ENST00000310521.1	+	3	1065	c.985A>G	c.(985-987)Aag>Gag	p.K329E	SPERT_ENST00000378966.3_Missense_Mutation_p.K293E	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	329			K -> E (in dbSNP:rs7317245).			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)		CGCCCTGCGGAAGATGGTCAG	0.716													g|||	2477	0.494609	0.3003	0.4914	5008	,	,		15278	0.5		0.6869	False		,,,				2504	0.5562					.											0									GLU/LYS	1638,2406		401,836,785	4	4	4		985	3.2	0.9	13	dbSNP_116	4	5608,2244		2132,1344,450	yes	missense	SPERT	NM_152719.1	56	2533,2180,1235	GG,GA,AA		28.5787,40.5045,39.0888	benign	329/449	46288145	7246,4650	2022	3926	5948	SO:0001583	missense	220082			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.985A>G	13.37:g.46288145A>G	ENSP00000309189:p.Lys329Glu		A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	1169	0.5352564102564102	163	0.3313008130081301	196	0.5414364640883977	285	0.4982517482517482	525	0.6926121372031663	G	0.009	-1.812861	0.00600	0.405045	0.714213	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.39056	1.1;1.19	4.9	3.16	0.36331	.	0.382628	0.22713	N	0.056559	T	0.00012	0.0000	N	0.01352	-0.895	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44050	-0.9353	9	0.02654	T	1	.	5.0269	0.14389	0.19:0.1856:0.6243:0.0	rs7317245;rs61188622;rs7317245	293;329	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	E	329;293	ENSP00000309189:K329E;ENSP00000368249:K293E	ENSP00000309189:K329E	K	+	1	0	SPERT	45186146	0.996000	0.38824	0.890000	0.34922	0.030000	0.12068	1.217000	0.32455	0.277000	0.22141	-0.119000	0.15052	AAG		0.716	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		G	46288145	A	G	46288145	3	3	34	1	0	0	0	0	1	0	0	0	15038	247	9	4	995	4	SPERT	13	46288145	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10		46288145	68881733	36	2516											
DMXL2	23312	broad.mit.edu	37	chr15	51787229	51787229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtgaattaccttgatgaAgtagctgcactcggtataaa	13	12	10	6	1	0	4	0	4	0	0	1	4	0	4	1	1	3	4	1	1	7	5			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr15:51787229A>G	ENST00000251076.5	-	19	5062	c.4775T>C	c.(4774-4776)cTt>cCt	p.L1592P	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1592P|DMXL2_ENST00000449909.3_Missense_Mutation_p.L956P|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1592						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCTTGATGAAGTAGCTGCAC	0.403																																						.											0													106	95	99					15																	51787229		2195	4293	6488	SO:0001583	missense	23312			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.4775T>C	15.37:g.51787229A>G	ENSP00000251076:p.Leu1592Pro		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602697	0.87157	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.41758	0.99;0.99;0.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.965;0.998;0.999	T	0.62950	-0.6745	10	0.56958	D	0.05	.	15.7131	0.77646	1.0:0.0:0.0:0.0	.	1592;956;1592	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	P	1592;1592;956	ENSP00000251076:L1592P;ENSP00000441858:L1592P;ENSP00000400855:L956P	ENSP00000251076:L1592P	L	-	2	0	DMXL2	49574521	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.930000	0.92872	2.194000	0.70268	0.482000	0.46254	CTT		0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51787229	A	G	51787229	3	3	34	1	0	0	0	0	1	0	0	0	4595	72	3	2	4438	2	DMXL2	15	51787229	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10		51787229	50744163	37	2517											
HEXA	3073	broad.mit.edu	37	chr15	72640036	72640037	+	Frame_Shift_Ins	INS	-	-	T																															cccggctcacctttactttaINSttatcaaacacctcctgcca																										TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr15:72640036_72640037insT	ENST00000268097.5	-	10	1639_1640	c.1136_1137insA	c.(1135-1137)aatfs	p.N379fs	HEXA_ENST00000567159.1_Frame_Shift_Ins_p.N379fs|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Frame_Shift_Ins_p.N390fs|HEXA_ENST00000429918.2_Frame_Shift_Ins_p.N206fs|HEXA_ENST00000457859.2_Intron|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	379					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						CCTTTACTTTATTATCAAACAC	0.545																																						.											0																																										SO:0001589	frameshift_variant	3073			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.1137dupA	15.37:g.72640038_72640038dupT	ENSP00000268097:p.Asn379fs		B4DKE7|E7ENH7|Q53HS8|Q6AI32	Frame_Shift_Ins	INS	ENST00000268097.5	37	CCDS10243.1																																																																																				0.545	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		T	72640037	-	T	72640036	7	5	34	1	0	1	1	0	0	0	0	0	7073	446	16	0	472	0	HEXA	15	72640036	Frame_Shift_Ins	INS	-	TCGA-KN-8418-01A-11D-2310-10	20852807	72640036	29891356	38	2518											
CHTF18	63922	broad.mit.edu	37	chr16	840180	840180	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccttccccacagggcTctctcctccacgtcccatgg	4	10	6	21	1	1	0	0	0	1	0	8	0	7	0	7	2	0	1	7	2	0	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr16:840180T>C	ENST00000262315.9	+	5	673	c.610T>C	c.(610-612)Tct>Cct	p.S204P	RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.S401P|CHTF18_ENST00000455171.2_Missense_Mutation_p.S232P|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000567114.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	204					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)				CCCACAGGGCTCTCTCCTCCA	0.657																																						.											0													32	36	35					16																	840180		2047	4196	6243	SO:0001583	missense	63922			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.610T>C	16.37:g.840180T>C	ENSP00000262315:p.Ser204Pro		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.836|8.836	0.941125|0.941125	0.18281|0.18281	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000426047|ENST00000317063;ENST00000455171;ENST00000262315	.|T;T;T	.|0.11169	.|2.8;2.86;2.86	4.9|4.9	0.411|0.411	0.16392|0.16392	.|.	.|1.230480	.|0.05417	.|N	.|0.543613	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.0;0.002;0.0	T|T	0.37361|0.37361	-0.9709|-0.9709	5|10	.|0.26408	.|T	.|0.33	-3.3244|-3.3244	4.3262|4.3262	0.11041|0.11041	0.0:0.6021:0.185:0.2129|0.0:0.6021:0.185:0.2129	.|.	.|204;232;204	.|B4DEY3;Q8WVB6-2;Q8WVB6	.|.;.;CTF18_HUMAN	P|P	99|401;232;204	.|ENSP00000313029:S401P;ENSP00000406252:S232P;ENSP00000262315:S204P	.|ENSP00000262315:S204P	L|S	+|+	2|1	0|0	CHTF18|CHTF18	780181|780181	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	0.161000|0.161000	0.16481|0.16481	1.123000|1.123000	0.41961|0.41961	-0.876000|-0.876000	0.02978|0.02978	CTC|TCT		0.657	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		C	840180	T	C	840180	3	2	34	1	0	0	0	0	1	0	0	0	3414	1551	54	2	628	2	CHTF18	16	840180	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10		840180	89514573	39	2519											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7578396	7578396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatctgagcagcgctcatgGtgggggcagcgcctcacaac	8	7	13	13	2	3	1	2	1	1	0	3	1	3	1	1	3	4	3	1	3	2	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:7578396G>T	ENST00000269305.4	-	5	723	c.534C>A	c.(532-534)caC>caA	p.H178Q	TP53_ENST00000359597.4_Missense_Mutation_p.H178Q|TP53_ENST00000420246.2_Missense_Mutation_p.H178Q|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H178Q|TP53_ENST00000445888.2_Missense_Mutation_p.H178Q|TP53_ENST00000413465.2_Missense_Mutation_p.H178Q	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	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (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.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178fs*3(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)	AGCGCTCATGGTGGGGGCAGC	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	71	Deletion - In frame(26)|Deletion - Frameshift(18)|Substitution - Missense(13)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(2)|Insertion - Frameshift(1)|Complex - compound substitution(1)	large_intestine(17)|upper_aerodigestive_tract(12)|skin(8)|breast(8)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|ovary(3)|lung(2)|pancreas(2)|stomach(1)|thymus(1)|liver(1)											47	48	47					17																	7578396		2203	4300	6503	SO:0001583	missense	7157	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;	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.534C>A	17.37:g.7578396G>T	ENSP00000269305:p.His178Gln		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	21.4	4.143016	0.77888	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.59	1.36	0.22044	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050213	0.85682	D	0.000000	D	0.99504	0.9823	M	0.69248	2.105	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.975;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.973;0.999;0.808;0.997;1.0;1.0;0.999	D	0.99425	1.0934	10	0.87932	D	0	-32.3354	5.932	0.19144	0.2114:0.0:0.6512:0.1374	.	139;178;178;85;178;178;178	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	178;178;178;178;178;178;167;85;46;85;46	ENSP00000410739:H178Q;ENSP00000352610:H178Q;ENSP00000269305:H178Q;ENSP00000398846:H178Q;ENSP00000391127:H178Q;ENSP00000391478:H178Q;ENSP00000425104:H46Q;ENSP00000423862:H85Q	ENSP00000269305:H178Q	H	-	3	2	TP53	7519121	1.000000	0.71417	0.990000	0.47175	0.866000	0.49608	4.023000	0.57211	0.113000	0.18004	-0.140000	0.14226	CAC		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578396	G	T	7578396	3	4	34	1	0	0	0	0	1	0	0	0	16378	1252	44	5	764	5	TP53	17	7578396	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10		7578396	73616814	40	2520											
ATAD5	79915	broad.mit.edu	37	chr17	29161986	29161986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttccttctgaaactgTcgacgaaatagtcaaaagtg	12	13	9	7	2	2	1	1	1	1	0	4	3	3	1	1	0	1	1	1	0	5	4			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:29161986T>C	ENST00000321990.4	+	2	1265	c.887T>C	c.(886-888)gTc>gCc	p.V296A	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	296					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)				TCTGAAACTGTCGACGAAATA	0.363																																						.											0													43	45	45					17																	29161986		2203	4299	6502	SO:0001583	missense	79915				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.887T>C	17.37:g.29161986T>C	ENSP00000313171:p.Val296Ala		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	5.654	0.305365	0.10678	.	.	ENSG00000176208	ENST00000321990	T	0.14266	2.52	5.91	-0.71	0.11234	.	1.819450	0.02672	N	0.108661	T	0.07728	0.0194	N	0.21448	0.665	0.09310	N	1	B;B	0.16603	0.018;0.003	B;B	0.12156	0.007;0.001	T	0.21075	-1.0256	10	0.08837	T	0.75	.	1.8808	0.03227	0.1166:0.3259:0.2497:0.3077	.	296;296	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	A	296	ENSP00000313171:V296A	ENSP00000313171:V296A	V	+	2	0	ATAD5	26186112	0.010000	0.17322	0.001000	0.08648	0.567000	0.35839	-0.188000	0.09642	-0.091000	0.12440	0.533000	0.62120	GTC		0.363	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		C	29161986	T	C	29161986	3	2	34	1	0	0	0	0	1	0	0	0	1076	1667	58	2	893	2	ATAD5	17	29161986	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10	21583590	29161986	52033224	41	2521											
GRB7	2886	ucsc.edu	37	chr17	37901742	37901742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgggcgtgtcattgagaAcccccgggaggctctgagtg	6	9	16	10	2	2	2	1	2	1	1	2	4	2	3	2	3	2	2	2	3	1	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:37901742A>G	ENST00000309156.4	+	11	1417	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	GRB7_ENST00000445327.2_Missense_Mutation_p.N410S|GRB7_ENST00000309185.3_Missense_Mutation_p.N387S|GRB7_ENST00000394204.1_Missense_Mutation_p.N387S|GRB7_ENST00000394211.3_Missense_Mutation_p.N387S|GRB7_ENST00000394209.2_Missense_Mutation_p.N387S	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	387					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)			GTCATTGAGAACCCCCGGGAG	0.607																																						.											0													63	67	66					17																	37901742		2203	4300	6503	SO:0001583	missense	2886			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.1160A>G	17.37:g.37901742A>G	ENSP00000310771:p.Asn387Ser		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394536	0.62066	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.63255	-0.03;1.29;1.29;1.29;1.26;-0.03	5.97	5.97	0.96955	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.994;0.991	T	0.81111	-0.1081	10	0.56958	D	0.05	-35.7628	15.433	0.75116	1.0:0.0:0.0:0.0	.	387;387	Q14451-2;Q14451	.;GRB7_HUMAN	S	387;387;387;387;410;387	ENSP00000311752:N387S;ENSP00000310771:N387S;ENSP00000377761:N387S;ENSP00000377759:N387S;ENSP00000403459:N410S;ENSP00000377754:N387S	ENSP00000310771:N387S	N	+	2	0	GRB7	35155268	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.419000	0.80179	2.288000	0.76882	0.533000	0.62120	AAC		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		G	37901742	A	G	37901742	3	3	34	1	0	0	0	0	1	0	0	0	6759	43	2	2	1198	2	GRB7	17	37901742	Missense_Mutation	SNP	A	TCGA-KN-8418-01A-11D-2310-10	8739756	37901742	43293468	42	2522											
BPTF	2186	broad.mit.edu;mdanderson.org	37	chr17	65889530	65889530	+	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	gaaatttcacggttgagcacCaaaaaggaagtgatcatgaa	17	8	10	6	1	2	3	2	3	0	0	2	5	2	4	1	2	1	2	1	2	5	2			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:65889530C>T	ENST00000321892.4	+	8	2539	c.2478C>T	c.(2476-2478)acC>acT	p.T826T	BPTF_ENST00000424123.3_Silent_p.T687T|BPTF_ENST00000306378.6_Silent_p.T700T|BPTF_ENST00000335221.5_Silent_p.T826T			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	826					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGTTGAGCACCAAAAAGGAAG	0.343																																						.											0													55	53	53					17																	65889530		2202	4300	6502	SO:0001819	synonymous_variant	2186			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.2478C>T	17.37:g.65889530C>T			Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																					0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65889530	C	T	65889530	2	4	34	1	0	0	0	0	0	0	0	1	1495	581	21	4		4	BPTF	17	65889530	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	27987788	65889530	15305680	43	2523											
MUC16	94025	mdanderson.org	37	chr19	8999395	8999395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcacaactactcaccatTgacatagagactgtccctgt	13	10	5	13	0	2	2	2	1	0	1	3	3	3	2	2	0	2	0	2	0	3	3	rs200813849		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:8999395T>C	ENST00000397910.4	-	56	40983	c.40780A>G	c.(40780-40782)Aat>Gat	p.N13594D	MUC16_ENST00000380951.5_Missense_Mutation_p.N235D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13596	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACTCACCATTGACATAGAGA	0.562																																						.											0													231	193	205					19																	8999395		2076	4217	6293	SO:0001583	missense	94025			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.40780A>G	19.37:g.8999395T>C	ENSP00000381008:p.Asn13594Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	13.42	2.232301	0.39498	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.37584	1.19;1.19	3.48	2.46	0.29980	SEA (1);	.	.	.	.	T	0.56891	0.2016	M	0.86343	2.81	.	.	.	B;P	0.48911	0.235;0.917	B;D	0.63488	0.029;0.915	T	0.63659	-0.6587	8	0.52906	T	0.07	.	5.163	0.15071	0.0:0.1391:0.0:0.8609	.	21239;13594	Q8WXI7;B5ME49	MUC16_HUMAN;.	D	13594;235	ENSP00000381008:N13594D;ENSP00000370338:N235D	ENSP00000370338:N235D	N	-	1	0	MUC16	8860395	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	1.033000	0.30191	0.554000	0.29061	0.454000	0.30748	AAT		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8999395	T	C	8999395	3	2	34	1	0	0	0	0	1	0	0	0	9973	1812	63	4	2859	4	MUC16	19	8999395	Missense_Mutation	SNP	T	TCGA-KN-8418-01A-11D-2310-10		8999395	50129588	44	2524											
MUC16	94025	mdanderson.org	37	chr19	9002587	9002587	+	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	ggctcagcttccagtacagcCgctctctgtccagtccaggg	6	9	11	15	1	2	0	1	0	1	0	6	0	5	0	4	2	3	4	4	2	1	2	rs201053591		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:9002587C>T	ENST00000397910.4	-	51	40432	c.40229G>A	c.(40228-40230)cGg>cAg	p.R13410Q	MUC16_ENST00000380951.5_Missense_Mutation_p.R51Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13412	SEA 9. {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						CCAGTACAGCCGCTCTCTGTC	0.597																																						.											0													133	121	125					19																	9002587		2098	4222	6320	SO:0001583	missense	94025			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.40229G>A	19.37:g.9002587C>T	ENSP00000381008:p.Arg13410Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.604|6.604	0.479880|0.479880	0.12581|0.12581	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.28666	.|1.6;1.6	2.75|2.75	-5.21|-5.21	0.02815|0.02815	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.24236|0.24236	0.0587|0.0587	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.50528	.|0.007;0.936	.|B;P	.|0.48089	.|0.003;0.566	T|T	0.32693|0.32693	-0.9897|-0.9897	3|7	.|0.08381	.|T	.|0.77	1.1855|1.1855	14.8189|14.8189	0.70055|0.70055	0.0:0.774:0.0:0.226|0.0:0.774:0.0:0.226	.|.	.|21055;13410	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|Q	250|13410;51	.|ENSP00000381008:R13410Q;ENSP00000370338:R51Q	.|ENSP00000370338:R51Q	G|R	-|-	1|2	0|0	MUC16|MUC16	8863587|8863587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.436000|-2.436000	0.01019|0.01019	-2.287000|-2.287000	0.00669|0.00669	-2.545000|-2.545000	0.00179|0.00179	GGC|CGG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9002587	C	T	9002587	3	4	34	1	0	0	0	0	1	0	0	0	9973	652	23	1	3430	1	MUC16	19	9002587	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	3192	9002587	50126396	45	2525											
MUC16	94025	mdanderson.org	37	chr19	9018539	9018539	+	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	atggtgaagttgagggtgaaCagcaccaggagagggccagc	12	5	17	7	0	0	4	0	3	0	1	0	5	0	4	2	4	3	2	2	4	2	1			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:9018539C>T	ENST00000397910.4	-	24	37838	c.37635G>A	c.(37633-37635)ctG>ctA	p.L12545L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12547	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGGGTGAACAGCACCAGGA	0.468																																						.											0													214	183	193					19																	9018539		1952	4160	6112	SO:0001819	synonymous_variant	94025			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.37635G>A	19.37:g.9018539C>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9018539	C	T	9018539	2	4	34	1	0	0	0	0	0	0	0	1	9973	465	17	4		4	MUC16	19	9018539	Silent	SNP	C	TCGA-KN-8418-01A-11D-2310-10	15952	9018539	50110444	46	2526											
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	13340907	13340907	+	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	acttcttaccaagctgcgggGtcatactcggcccagacacg	9	8	10	14	3	2	1	1	0	1	1	3	1	2	1	2	3	4	1	2	3	3	3	rs372083869		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:13340907G>A	ENST00000360228.5	-	36	5516	c.5517C>T	c.(5515-5517)gaC>gaT	p.D1839D	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.D1840D	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	1840					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)	AAGCTGCGGGGTCATACTCGG	0.597																																						.											0													63	69	67					19																	13340907		2063	4228	6291	SO:0001819	synonymous_variant	773			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.5517C>T	19.37:g.13340907G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13340907	G	A	13340907	2	1	34	1	0	0	0	0	0	0	0	1	2538	1252	44	3		3	CACNA1A	19	13340907	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	4322368	13340907	45788076	47	2527											
SPINT2	10653	broad.mit.edu;mdanderson.org	37	chr19	38782514	38782514	+	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	gggctgttcgtgatggtgttGatcctcttcctgggagcctc	3	14	14	10	1	1	2	0	2	1	0	5	3	3	3	3	3	1	3	3	3	0	3			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:38782514G>A	ENST00000301244.7	+	7	1062	c.627G>A	c.(625-627)ttG>ttA	p.L209L	CTB-102L5.4_ENST00000591889.1_Intron|Y_RNA_ENST00000363339.1_RNA|SPINT2_ENST00000454580.3_Silent_p.L152L|SPINT2_ENST00000587090.1_Silent_p.L159L	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	209					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)			TGATGGTGTTGATCCTCTTCC	0.647																																						.											0													89	71	77					19																	38782514		2203	4300	6503	SO:0001819	synonymous_variant	10653			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.627G>A	19.37:g.38782514G>A			A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Silent	SNP	ENST00000301244.7	37	CCDS12510.1																																																																																				0.647	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			A	38782514	G	A	38782514	2	1	34	1	0	0	0	0	0	0	0	1	15068	1281	45	4		4	SPINT2	19	38782514	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10	25441607	38782514	20346469	48	2528											
ZNF28	7576	mdanderson.org	37	chr19	53303332	53303332	+	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	gtgccaggtgtgaatccctcCggaaagccttgtcacaaacc	10	8	10	13	1	1	1	1	1	0	0	3	2	3	2	5	2	3	0	5	2	3	1	rs142442328		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:53303332C>T	ENST00000457749.2	-	4	1885	c.1766G>A	c.(1765-1767)cGg>cAg	p.R589Q	ZNF28_ENST00000414252.2_Missense_Mutation_p.R536Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.R536Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.R536Q	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	589					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)		TGAATCCCTCCGGAAAGCCTT	0.443																																						.											0													161	161	161					19																	53303332		2203	4300	6503	SO:0001583	missense	7576			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.1766G>A	19.37:g.53303332C>T	ENSP00000397693:p.Arg589Gln		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.725	-0.782048	0.02907	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	1.61	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	9	0.46703	T	0.11	.	3.1903	0.06615	0.1094:0.4603:0.1859:0.2444	.	589	P17035	ZNF28_HUMAN	Q	536;589;536;536;536	ENSP00000412143:R536Q;ENSP00000397693:R589Q;ENSP00000353410:R536Q;ENSP00000444965:R536Q;ENSP00000375661:R536Q	ENSP00000353410:R536Q	R	-	2	0	ZNF28	57995144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.783000	0.00054	-4.045000	0.00079	-2.453000	0.00207	CGG		0.443	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		T	53303332	C	T	53303332	3	4	34	1	0	0	0	0	1	0	0	0	17810	652	23	1	394	1	ZNF28	19	53303332	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	14520818	53303332	5825651	49	2529											
USP29	57663	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	57641826	57641826	+	Missense_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	gtgattccctggttctacccGttgaaccagacaagaatgcc	10	10	9	12	1	1	4	0	2	1	2	2	4	2	4	4	1	3	2	4	1	4	4	rs141050797		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:57641826G>A	ENST00000254181.4	+	4	2237	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I	USP29_ENST00000598197.1_Missense_Mutation_p.V595I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	595	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)		GGTTCTACCCGTTGAACCAGA	0.488													A|||	1	0.000199681	8e-04	0	5008	,	,		19382	0		0	False		,,,				2504	0					.											0								A	ILE/VAL	3,4403	824.5+/-416.5	0,3,2200	69	68	68		1783	-4.2	0	19	dbSNP_134	68	0,8600		0,0,4300	yes	missense	USP29	NM_020903.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	595/923	57641826	3,13003	2203	4300	6503	SO:0001583	missense	57663				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.1783G>A	19.37:g.57641826G>A	ENSP00000254181:p.Val595Ile			Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	0.004	-2.321542	0.00232	6.81E-4	0.0	ENSG00000131864	ENST00000254181	T	0.48522	0.81	2.09	-4.19	0.03835	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.14356	0.0347	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23762	-1.0179	9	0.06236	T	0.91	-0.3075	10.5526	0.45099	0.4498:0.0:0.5502:0.0	.	595	Q9HBJ7	UBP29_HUMAN	I	595	ENSP00000254181:V595I	ENSP00000254181:V595I	V	+	1	0	USP29	62333638	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.795000	0.04580	-2.562000	0.00473	-2.832000	0.00106	GTT		0.488	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			A	57641826	G	A	57641826	3	1	34	1	0	0	0	0	1	0	0	0	17056	1145	40	1	1785	1	USP29	19	57641826	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10	4338494	57641826	1487157	50	2530											
TIAM1	7074	broad.mit.edu;hgsc.bcm.edu	37	chr21	32624307	32624307	+	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	gctcatctccagctcccgccGgaagttctcgtacaccccct	6	9	7	19	3	3	0	1	0	2	0	6	1	4	1	5	1	2	4	5	1	2	2			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:32624307G>A	ENST00000286827.3	-	6	1633	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R388W	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	388					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						AGCTCCCGCCGGAAGTTCTCG	0.687																																						.											0													44	51	49					21																	32624307		2203	4299	6502	SO:0001583	missense	7074				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.1162C>T	21.37:g.32624307G>A	ENSP00000286827:p.Arg388Trp		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915919	0.73098	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.48836	0.84;0.8	4.86	0.664	0.17890	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	L	0.55481	1.735	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.61978	-0.6951	10	0.66056	D	0.02	.	14.2083	0.65748	0.0:0.0:0.4736:0.5264	.	388;388;388	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	W	388;229;388	ENSP00000286827:R388W;ENSP00000441570:R388W	ENSP00000286827:R388W	R	-	1	2	TIAM1	31546178	1.000000	0.71417	0.056000	0.19401	0.957000	0.61999	2.596000	0.46205	-0.066000	0.12998	0.655000	0.94253	CGG		0.687	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32624307	G	A	32624307	3	1	34	1	0	0	0	0	1	0	0	0	15887	1115	39	1	3709	1	TIAM1	21	32624307	Missense_Mutation	SNP	G	TCGA-KN-8418-01A-11D-2310-10		32624307	15505588	51	2531											
IFNAR1	3454	broad.mit.edu	37	chr21	34727798	34727798	+	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	caagattcaggaaattattcTaatgaagatgaaagcgaaag	19	9	9	4	1	2	4	1	2	1	2	2	6	2	5	0	1	1	0	0	1	7	4			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:34727798T>C	ENST00000270139.3	+	11	1769	c.1617T>C	c.(1615-1617)tcT>tcC	p.S539S	IFNAR1_ENST00000442357.2_Silent_p.S478S|IFNAR1_ENST00000416947.2_Silent_p.S470S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	539					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)"	GAAATTATTCTAATGAAGATG	0.333																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	.											0													86	94	91					21																	34727798		2203	4300	6503	SO:0001819	synonymous_variant	3454				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.1617T>C	21.37:g.34727798T>C			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																				0.333	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			C	34727798	T	C	34727798	2	2	34	1	0	0	0	0	0	0	0	1	7544	1509	53	2		2	IFNAR1	21	34727798	Silent	SNP	T	TCGA-KN-8418-01A-11D-2310-10	2103491	34727798	13402097	52	2532											
DIP2A	23181	broad.mit.edu	37	chr21	47970588	47970588	+	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	ttctggaagggacgctgcacCcgtgtaatgtgctgatgtgc	7	11	14	9	2	1	1	0	1	1	0	1	3	1	3	1	2	3	4	1	2	2	2			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:47970588C>T	ENST00000417564.2	+	23	2791	c.2770C>T	c.(2770-2772)Ccg>Tcg	p.P924S	DIP2A_ENST00000427143.2_Missense_Mutation_p.P860S|DIP2A_ENST00000400274.1_Missense_Mutation_p.P920S|DIP2A_ENST00000318711.7_Missense_Mutation_p.P925S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	924					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)		GACGCTGCACCCGTGTAATGT	0.532																																						.											0													77	76	76					21																	47970588		2048	4208	6256	SO:0001583	missense	23181			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.2770C>T	21.37:g.47970588C>T	ENSP00000392066:p.Pro924Ser		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900007	0.92035	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.994	T	0.58476	-0.7630	10	0.19590	T	0.45	-30.2615	18.2448	0.89981	0.0:1.0:0.0:0.0	.	925;860;924	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	S	920;860;925;924	ENSP00000383133:P920S;ENSP00000400528:P860S;ENSP00000323633:P925S;ENSP00000392066:P924S	ENSP00000323633:P925S	P	+	1	0	DIP2A	46795016	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	7.680000	0.84062	2.639000	0.89480	0.655000	0.94253	CCG		0.532	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47970588	C	T	47970588	3	4	34	1	0	0	0	0	1	0	0	0	4527	623	22	3	2942	3	DIP2A	21	47970588	Missense_Mutation	SNP	C	TCGA-KN-8418-01A-11D-2310-10	13242790	47970588	159307	53	2533											
NAGA	4668	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr22	42456379	42456379	+	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	gtgaagttggtttcatctcgGaggccactgatgatgtcacc	8	12	12	9	1	3	3	2	3	1	0	4	4	3	4	2	3	0	2	2	3	1	2			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr22:42456379G>A	ENST00000396398.3	-	9	1672	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	NAGA_ENST00000402937.1_Silent_p.L380L|NAGA_ENST00000403363.1_Silent_p.L380L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	380					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTTCATCTCGGAGGCCACTGA	0.567																																						.											0													179	158	165					22																	42456379		2203	4300	6503	SO:0001819	synonymous_variant	4668				CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.1140C>T	22.37:g.42456379G>A				Silent	SNP	ENST00000396398.3	37	CCDS14030.1																																																																																				0.567	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			A	42456379	G	A	42456379	2	1	34	1	0	0	0	0	0	0	0	1	10141	1161	41	3		3	NAGA	22	42456379	Silent	SNP	G	TCGA-KN-8418-01A-11D-2310-10		42456379	8848187	54	2534											
CTH	1491	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	70897872	70897872	+	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	aaaaacggaatggcagttgcCcagttcctggaatctaatcc	13	9	9	10	1	1	0	0	0	1	0	3	2	3	2	3	3	2	3	3	3	5	3			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:70897872C>A	ENST00000370938.3	+	8	975	c.831C>A	c.(829-831)gcC>gcA	p.A277A	CTH_ENST00000411986.2_Silent_p.A245A|CTH_ENST00000346806.2_Silent_p.A233A	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						TGGCAGTTGCCCAGTTCCTGG	0.403																																						.											0													112	107	109					1																	70897872		2203	4300	6503	SO:0001819	synonymous_variant	1491			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.831C>A	1.37:g.70897872C>A			O95791|Q9NX42	Silent	SNP	ENST00000370938.3	37	CCDS650.1																																																																																				0.403	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		A	70897872	C	A	70897872	2	1	35	1	0	0	0	0	0	0	0	1	4009	610	22	5		5	CTH	1	70897872	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10		70897872	178352749	1	2535											
RPRD2	23248	broad.mit.edu	37	chr1	150445701	150445701	+	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	agactttcggcctagggaacCttttctcagcagagacccat	10	10	9	12	1	1	2	1	0	1	2	3	4	1	3	3	2	2	1	3	2	2	4	rs377477495		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:150445701C>T	ENST00000369068.4	+	11	4281	c.4277C>T	c.(4276-4278)cCt>cTt	p.P1426L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.P1400L	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1426	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTAGGGAACCTTTTCTCAGC	0.567																																						.											0								C	LEU/PRO	1,3791		0,1,1895	78	79	79		4277	4.6	1	1		79	0,8218		0,0,4109	no	missense	RPRD2	NM_015203.3	98	0,1,6004	TT,TC,CC		0.0,0.0264,0.0083	benign	1426/1462	150445701	1,12009	1896	4109	6005	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4277C>T	1.37:g.150445701C>T	ENSP00000358064:p.Pro1426Leu		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365145	0.41902	2.64E-4	0.0	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.43294	0.95;0.95	4.57	4.57	0.56435	.	0.301676	0.28977	N	0.013525	T	0.16300	0.0392	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.08554	-1.0716	10	0.87932	D	0	-1.5661	10.3448	0.43899	0.0:0.9097:0.0:0.0903	.	1426;1400	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	L	1400;1426	ENSP00000383785:P1400L;ENSP00000358064:P1426L	ENSP00000358064:P1426L	P	+	2	0	RPRD2	148712325	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.717000	0.54911	2.351000	0.79841	0.655000	0.94253	CCT		0.567	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		T	150445701	C	T	150445701	3	4	35	1	0	0	0	0	1	0	0	0	13617	681	24	4	4319	4	RPRD2	1	150445701	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	79547829	150445701	98804920	2	2536											
NAV1	89796	mdanderson.org	37	chr1	201618543	201618543	+	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	ctggagcagctgctcttcagCcagatgctgggtaagtcctg	7	10	13	11	0	2	1	1	0	1	1	3	2	3	2	2	2	5	5	2	2	1	2	rs6665525	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:201618543C>T	ENST00000367296.4	+	1	1167	c.747C>T	c.(745-747)agC>agT	p.S249S	NAV1_ENST00000295624.6_Silent_p.S249S|NAV1_ENST00000367300.3_Silent_p.S249S|NAV1_ENST00000367297.4_Silent_p.S249S|NAV1_ENST00000367302.1_Silent_p.S262S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	249					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						TGCTCTTCAGCCAGATGCTGG	0.682													C|||	13	0.00259585	0.0098	0	5008	,	,		12043	0		0	False		,,,				2504	0					.											0								C		40,4282		1,38,2122	9	11	10		747	1.8	1	1	dbSNP_116	10	0,8510		0,0,4255	no	coding-synonymous	NAV1	NM_020443.4		1,38,6377	TT,TC,CC		0.0,0.9255,0.3117		249/1878	201618543	40,12792	2161	4255	6416	SO:0001819	synonymous_variant	89796			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.747C>T	1.37:g.201618543C>T			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	CCDS1414.2																																																																																				0.682	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		T	201618543	C	T	201618543	2	4	35	1	0	0	0	0	0	0	0	1	10183	738	26	3		3	NAV1	1	201618543	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	51172842	201618543	47632078	3	2537											
FLVCR1	28982	mdanderson.org	37	chr1	213031948	213031948	+	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	gcaccttcccggtgaatgggGccccccgggacagcctcgct	5	6	13	17	3	0	1	0	1	0	0	2	2	1	2	6	4	1	2	6	4	1	1	rs11120047	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:213031948G>C	ENST00000366971.4	+	1	352	c.154G>C	c.(154-156)Gcc>Ccc	p.A52P	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	52			A -> P (in dbSNP:rs11120047). {ECO:0000269|PubMed:15489334}.		blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GGTGAATGGGGCCCCCCGGGA	0.716													G|||	2226	0.444489	0.2269	0.3084	5008	,	,		12077	0.5476		0.5646	False		,,,				2504	0.6053				Esophageal Squamous(199;2235 2952 19233 26256)	.											0								G	PRO/ALA	992,2868		199,594,1137	3	6	5		154	3.2	0	1	dbSNP_120	5	3551,4103		951,1649,1227	yes	missense	FLVCR1	NM_014053.3	27	1150,2243,2364	CC,CG,GG		46.394,25.6995,39.4563	benign	52/556	213031948	4543,6971	1930	3827	5757	SO:0001583	missense	28982			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.154G>C	1.37:g.213031948G>C	ENSP00000355938:p.Ala52Pro		Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	CCDS1510.1	986	0.45146520146520147	129	0.2621951219512195	129	0.356353591160221	315	0.5506993006993007	413	0.5448548812664907	G	13.29	2.193274	0.38707	0.256995	0.46394	ENSG00000162769	ENST00000366971	D	0.83250	-1.7	5.04	3.17	0.36434	.	1.238010	0.05829	N	0.617282	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.22604	0.072	B	0.23018	0.043	T	0.38845	-0.9642	9	0.30078	T	0.28	-10.6878	10.1458	0.42762	0.1646:0.0:0.8354:0.0	rs11120047;rs17846435;rs17859484;rs56728027;rs11120047	52	Q9Y5Y0	FLVC1_HUMAN	P	52	ENSP00000355938:A52P	ENSP00000355938:A52P	A	+	1	0	FLVCR1	211098571	1.000000	0.71417	0.002000	0.10522	0.010000	0.07245	5.238000	0.65366	0.534000	0.28695	-0.253000	0.11424	GCC		0.716	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		C	213031948	G	C	213031948	3	2	35	1	0	0	0	0	1	0	0	0	5945	1203	42	5	156	5	FLVCR1	1	213031948	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	11413405	213031948	36218673	4	2538											
HHIPL2	79802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	222721242	222721242	+	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	agggggctggaaagggggccCgtaatccaggcactgggggt	8	5	20	8	1	0	0	0	0	0	0	1	1	1	1	2	8	0	3	2	8	2	1			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr1:222721242C>T	ENST00000343410.6	-	1	203	c.145G>A	c.(145-147)Ggg>Agg	p.G49R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	49					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AAAGGGGGCCCGTAATCCAGG	0.617																																						.											0													29	33	32					1																	222721242		1911	4126	6037	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.145G>A	1.37:g.222721242C>T	ENSP00000342118:p.Gly49Arg		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.332411	0.01298	.	.	ENSG00000143512	ENST00000343410	T	0.70282	-0.47	4.93	-0.274	0.12910	Folate receptor-like (1);	0.414878	0.26321	N	0.025047	T	0.48390	0.1497	L	0.28400	0.85	0.21220	N	0.999754	B	0.10296	0.003	B	0.18263	0.021	T	0.29150	-1.0021	10	0.08599	T	0.76	-2.0086	6.0319	0.19684	0.0:0.5884:0.1257:0.2859	.	49	Q6UWX4	HIPL2_HUMAN	R	49	ENSP00000342118:G49R	ENSP00000342118:G49R	G	-	1	0	HHIPL2	220787865	0.006000	0.16342	0.193000	0.23327	0.352000	0.29268	0.347000	0.20014	-0.366000	0.08064	-0.136000	0.14681	GGG		0.617	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222721242	C	T	222721242	3	4	35	1	0	0	0	0	1	0	0	0	7094	652	23	1	2065	1	HHIPL2	1	222721242	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	9689294	222721242	26529379	5	2539											
MERTK	10461	mdanderson.org	37	chr2	112656372	112656372	+	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	ctccccgcgctctggcgtagAggtgagtgcgcccggctggg	3	7	17	14	5	1	2	0	1	1	1	2	2	2	2	3	4	1	3	3	4	1	1	rs35898499	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr2:112656372A>T	ENST00000295408.4	+	1	317	c.60A>T	c.(58-60)agA>agT	p.R20S	MERTK_ENST00000409780.1_5'UTR|MERTK_ENST00000421804.2_Splice_Site_p.R20S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	20			R -> S (in dbSNP:rs35898499). {ECO:0000269|PubMed:11062461, ECO:0000269|PubMed:17344846}.		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						TCTGGCGTAGAGGTGAGTGCG	0.741													A|||	87	0.0173722	0.0038	0.0259	5008	,	,		9832	0		0.0497	False		,,,				2504	0.0143					.											0								A	SER/ARG	29,4105		1,27,2039	5	7	6	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	60	2.3	0.7	2	dbSNP_126	6	408,7922		8,392,3765	no	missense-near-splice	MERTK	NM_006343.2	110	9,419,5804	TT,TA,AA		4.898,0.7015,3.5061	benign	20/1000	112656372	437,12027	2067	4165	6232	SO:0001630	splice_region_variant	10461			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.61+1A>T	2.37:g.112656372A>T			Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	48	0.02197802197802198	1	0.0020325203252032522	12	0.03314917127071823	2	0.0034965034965034965	33	0.04353562005277045	A	4.634	0.117901	0.08881	0.007015	0.04898	ENSG00000153208	ENST00000295408;ENST00000421804	T;T	0.74421	-0.84;-0.84	3.57	2.34	0.29019	.	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	0.20196	N	0.999922	B	0.14012	0.009	B	0.08055	0.003	T	0.11227	-1.0596	9	0.41790	T	0.15	.	4.9993	0.14257	0.8402:0.0:0.1598:0.0	rs35898499	20	Q12866	MERTK_HUMAN	S	20	ENSP00000295408:R20S;ENSP00000389152:R20S	ENSP00000295408:R20S	R	+	3	2	MERTK	112372843	0.688000	0.27680	0.700000	0.30305	0.009000	0.06853	0.673000	0.25203	0.694000	0.31654	0.482000	0.46254	AGA		0.741	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		Missense_Mutation	T	112656372	A	T	112656372	5	4	35	1	0	0	0	0	0	0	1	0	9479	318	11	5	62	5	MERTK	2	112656372	Splice_Site	SNP	A	TCGA-KN-8419-01A-11D-2310-10		112656372	130543001	6	2540											
RBPJ	3516	broad.mit.edu	37	chr4	26432510	26432511	+	Frame_Shift_Ins	INS	-	-	G																															tgcagcaggagcaatccttcINSgagccaattcaagccaggtg																								rs1064403|rs202024680		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr4:26432510_26432511insG	ENST00000361572.6	+	11	1578_1579	c.1384_1385insG	c.(1384-1386)cgafs	p.R462fs	RBPJ_ENST00000342320.4_Frame_Shift_Ins_p.R448fs|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.R447fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.R427fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.R449fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.R462fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.R448fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	462				R -> P (in Ref. 1; AAA60258). {ECO:0000305}.	angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AGCAATCCTTCGAGCCAATTCA	0.5																																						.											0																																										SO:0001589	frameshift_variant	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1385dupG	4.37:g.26432511_26432511dupG	ENSP00000354528:p.Arg462fs		B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Ins	INS	ENST00000361572.6	37	CCDS3437.1																																																																																				0.5	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		G	26432511	-	G	26432510	7	5	35	1	0	1	1	0	0	0	0	0	13161	876	31	0	1489	0	RBPJ	4	26432510	Frame_Shift_Ins	INS	-	TCGA-KN-8419-01A-11D-2310-10		26432510	164721766	7	2541											
KIAA1211	57482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	57182677	57182677	+	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	gacccagagccaagtgagccGtccaaggaggaccaggagag	13	2	15	11	1	0	3	0	1	0	2	1	7	1	5	5	3	2	0	5	3	2	0	rs369933689		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr4:57182677G>A	ENST00000504228.1	+	6	3114	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P	KIAA1211_ENST00000541073.1_Silent_p.P996P|KIAA1211_ENST00000264229.6_Silent_p.P1003P			Q6ZU35	K1211_HUMAN	KIAA1211	1003	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAGTGAGCCGTCCAAGGAGG	0.657																																						.											0								G		0,4048		0,0,2024	30	38	35		3009	-4.3	0	4		35	1,8335		0,1,4167	no	coding-synonymous	KIAA1211	NM_020722.1		0,1,6191	AA,AG,GG		0.012,0.0,0.0081		1003/1234	57182677	1,12383	2024	4168	6192	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3009G>A	4.37:g.57182677G>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																				0.657	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57182677	G	A	57182677	2	1	35	1	0	0	0	0	0	0	0	1	8215	1132	40	1		1	KIAA1211	4	57182677	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	30750167	57182677	133971599	8	2542											
DSPP	1834	broad.mit.edu	37	chr4	88536259	88536264	+	In_Frame_Del	DEL	CAGTGA	CAGTGA	-																															agcagtgatagcagtgacagCagtgatagcgacagcagcaa																										TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	CAGTGA	CAGTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr4:88536259_88536264delCAGTGA	ENST00000282478.7	+	4	2478_2483	c.2445_2450delCAGTGA	c.(2443-2451)agcagtgat>agt	p.SD818del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.SD818del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	818	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)		gcagtgacagcagtgatagcgacagc	0.515																																						.											0																																										SO:0001651	inframe_deletion	1834			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.2445_2450delCAGTGA	4.37:g.88536259_88536264delCAGTGA	ENSP00000282478:p.Ser818_Asp819del		A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																				0.515	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88536264	CAGTGA	-	88536259	7	5	35	1	0	1	0	1	0	0	0	0	4782	709	25	0	2459	0	DSPP	4	88536259	In_Frame_Del	DEL	CAGTGA	TCGA-KN-8419-01A-11D-2310-10	31353582	88536259	102618017	9	2543											
FRG1	2483	mdanderson.org	37	chr4	190876268	190876268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttgggcgttcagatgcaAttggaccaagagaacaatgg	12	10	13	6	1	1	2	1	0	0	2	1	4	1	3	1	3	2	3	1	3	4	4	rs528665769		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr4:190876268A>G	ENST00000226798.4	+	5	616	c.394A>G	c.(394-396)Att>Gtt	p.I132V	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	132					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTCAGATGCAATTGGACCAAG	0.358																																						.											0													91	91	91					4																	190876268		2203	4300	6503	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.394A>G	4.37:g.190876268A>G	ENSP00000226798:p.Ile132Val		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.749824	0.30955	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.0;0.93	4.04	4.04	0.47022	Actin cross-linking (1);	0.133249	0.64402	D	0.000004	T	0.31918	0.0812	L	0.42686	1.345	0.80722	D	1	B	0.18741	0.03	B	0.26693	0.072	T	0.07009	-1.0795	10	0.06891	T	0.86	2.1537	11.3071	0.49342	1.0:0.0:0.0:0.0	.	132	Q14331	FRG1_HUMAN	V	132;69	ENSP00000226798:I132V;ENSP00000435943:I69V	ENSP00000226798:I132V	I	+	1	0	FRG1	191113262	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.941000	0.75922	1.599000	0.50093	0.462000	0.41574	ATT		0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190876268	A	G	190876268	3	3	35	1	0	0	0	0	1	0	0	0	6046	101	4	4	412	4	FRG1	4	190876268	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	102340009	190876268	278008	10	2544											
KIF4B	285643	broad.mit.edu	37	chr5	154394949	154394949	+	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	acaagcaggtcttctgacgcTtttaccactcagcatgctct	9	12	7	13	1	4	1	1	1	3	0	4	1	4	1	1	1	4	4	1	1	2	3			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr5:154394949T>C	ENST00000435029.4	+	1	1690	c.1530T>C	c.(1528-1530)gcT>gcC	p.A510A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	510					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCTGACGCTTTTACCACTC	0.488																																						.											0													95	100	99					5																	154394949		2203	4300	6503	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1530T>C	5.37:g.154394949T>C				Silent	SNP	ENST00000435029.4	37	CCDS47324.1																																																																																				0.488	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			C	154394949	T	C	154394949	2	2	35	1	0	0	0	0	0	0	0	1	8304	1596	56	2		2	KIF4B	5	154394949	Silent	SNP	T	TCGA-KN-8419-01A-11D-2310-10		154394949	26520311	11	2545											
F12	2161	mdanderson.org	37	chr5	176831544	176831544	+	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	ccccagttccgcgcttgctcGgcagtcacgttccggtaggt	4	10	12	15	5	1	0	1	0	0	0	4	0	3	0	4	3	1	6	4	3	1	4	rs41309752	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr5:176831544G>A	ENST00000253496.3	-	8	804	c.756C>T	c.(754-756)gcC>gcT	p.A252A	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	252	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GCGCTTGCTCGGCAGTCACGT	0.761									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	138	0.0275559	0.0567	0.0101	5008	,	,		13984	0		0.007	False		,,,				2504	0.0501					.											0								G		211,4127		1,209,1959	10	13	12		756	-10.1	0	5	dbSNP_127	12	32,8508		0,32,4238	no	coding-synonymous	F12	NM_000505.3		1,241,6197	AA,AG,GG		0.3747,4.864,1.8869		252/616	176831544	243,12635	2169	4270	6439	SO:0001819	synonymous_variant	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	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.756C>T	5.37:g.176831544G>A		1934	P78339	Silent	SNP	ENST00000253496.3	37	CCDS34302.1																																																																																				0.761	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			A	176831544	G	A	176831544	2	1	35	1	0	0	0	0	0	0	0	1	5339	1103	39	1		1	F12	5	176831544	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	22436595	176831544	4083716	12	2546											
FLT4	2324	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	180057729	180057729	+	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	tcgcaccacccccgtgtcctCgctgtccttgtctccggtgg	2	11	10	18	4	1	0	0	0	1	0	6	0	3	0	6	2	0	2	6	2	0	1	rs202015753	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr5:180057729C>T	ENST00000261937.6	-	3	304	c.226G>A	c.(226-228)Gag>Aag	p.E76K	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E76K|FLT4_ENST00000393347.3_Missense_Mutation_p.E76K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	76	Ig-like C2-type 1.				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)	CCCGTGTCCTCGCTGTCCTTG	0.662													c|||	10	0.00199681	0	0.0014	5008	,	,		17527	0		0	False		,,,				2504	0.0092				Colon(97;1075 1466 27033 27547 35871)	.											0													129	111	117					5																	180057729		2202	4299	6501	SO:0001583	missense	2324			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.226G>A	5.37:g.180057729C>T	ENSP00000261937:p.Glu76Lys		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.214	-0.380086	0.05000	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.29397	1.57;1.57;1.57	4.94	1.91	0.25777	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17789	0.0427	L	0.41573	1.285	0.09310	N	1	B;B;B;B;B	0.33940	0.433;0.311;0.112;0.004;0.002	B;B;B;B;B	0.25884	0.064;0.03;0.01;0.004;0.005	T	0.12243	-1.0555	9	0.23891	T	0.37	.	3.6906	0.08344	0.1438:0.5735:0.1397:0.143	.	76;76;76;76;76	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	K	76	ENSP00000261937:E76K;ENSP00000377016:E76K;ENSP00000426057:E76K	ENSP00000261937:E76K	E	-	1	0	FLT4	179990335	0.065000	0.20965	0.238000	0.24106	0.056000	0.15407	1.126000	0.31344	1.212000	0.43366	0.456000	0.33151	GAG		0.662	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180057729	C	T	180057729	3	4	35	1	0	0	0	0	1	0	0	0	5944	893	31	1	3985	1	FLT4	5	180057729	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	3226185	180057729	857531	13	2547											
HLA-A	3105	mdanderson.org	37	chr6	29911119	29911119	+	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	tcctccgcgggtaccggcagGacgcctacgacggcaaggat	8	5	14	14	6	0	0	0	0	0	0	2	3	2	2	4	5	2	3	4	5	3	2	rs3173419	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr6:29911119G>C	ENST00000396634.1	+	5	759	c.418G>C	c.(418-420)Gac>Cac	p.D140H	HLA-A_ENST00000376809.5_Missense_Mutation_p.D140H|HLA-A_ENST00000376806.5_Missense_Mutation_p.D140H|HLA-A_ENST00000376802.2_Missense_Mutation_p.D140H			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	140	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)	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						GTACCGGCAGGACGCCTACGA	0.662									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)			N|||	273	0.0545128	0.1399	0.0461	5008	,	,		11816	0.0159		0.0308	False		,,,				2504	0.0092					.											0													36	27	30					6																	29911119		1496	2698	4194	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	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.418G>C	6.37:g.29911119G>C	ENSP00000379873:p.Asp140His		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.580111	0.00879	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00009	9.49;9.49;9.49;9.49	3.78	-7.56	0.01322	MHC class I, alpha chain, alpha1/alpha2 (6);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	79.907900	0.01339	U	0.011517	T	0.00039	0.0001	L	0.47190	1.495	0.09310	N	1	B;B;B;B;B;B	0.16603	0.018;0.001;0.001;0.003;0.003;0.001	B;B;B;B;B;B	0.26969	0.064;0.051;0.061;0.075;0.075;0.051	T	0.10706	-1.0618	10	0.23302	T	0.38	.	5.3314	0.15934	0.102:0.2286:0.5197:0.1496	rs3173419;rs3175999;rs16896879;rs28749152;rs41549418	19;140;140;140;140;140	B4DVB9;P13746;Q5SRN7;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;.;1A36_HUMAN;1A03_HUMAN	H	140	ENSP00000379873:D140H;ENSP00000366002:D140H;ENSP00000366005:D140H;ENSP00000365998:D140H	ENSP00000365998:D140H	D	+	1	0	HLA-A	30019098	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.138000	0.00013	-2.332000	0.00632	-4.658000	0.00004	GAC		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		C	29911119	G	C	29911119	3	2	35	1	0	0	0	0	1	0	0	0	7195	1174	41	5	428	5	HLA-A	6	29911119	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		29911119	141203948	14	2548											
RSPH10B	728194	mdanderson.org	37	chr7	6836259	6836259	+	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	caacacgtgggtcaataataCgtacgtcttctttgtgaaca	12	12	8	9	3	3	1	1	1	2	0	3	1	3	1	0	1	4	1	0	1	6	5	rs2528353	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:6836259C>T	ENST00000403107.1	+	19	2681	c.2294C>T	c.(2293-2295)aCg>aTg	p.T765M	CCZ1B_ENST00000597208.1_Intron|RSPH10B2_ENST00000463354.2_3'UTR|RSPH10B2_ENST00000359718.3_3'UTR|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.T765M|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.T765M|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.T765M			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	765				T -> M (in Ref. 1; BAG37482 and 3; AAH34495/AAI57865/AAI57872). {ECO:0000305}.						breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GTCAATAATACGTACGTCTTC	0.433													.|||	1201	0.239816	0.18	0.2233	5008	,	,		10379	0.2639		0.1332	False		,,,				2504	0.4172					.											0													195	196	196					7																	6836259		1823	3749	5572	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.2294C>T	7.37:g.6836259C>T	ENSP00000384766:p.Thr765Met		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	T	0.830	-0.745624	0.03065	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	2.94	1.75	0.24633	.	1.687920	0.03443	N	0.209514	T	0.20292	0.0488	N	0.01576	-0.805	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.19353	-1.0308	9	0.13108	T	0.6	.	5.0327	0.14419	0.0:0.2814:0.0:0.7186	.	765	B2RC85	R10B2_HUMAN	M	765	ENSP00000384766:T765M;ENSP00000386102:T765M;ENSP00000297186:T765M;ENSP00000416710:T765M	ENSP00000297186:T765M	T	+	2	0	RSPH10B2	6802784	0.257000	0.24022	0.001000	0.08648	0.058000	0.15608	1.923000	0.40055	-0.033000	0.13736	-1.381000	0.01174	ACG		0.433	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		T	6836259	C	T	6836259	3	4	35	1	0	0	0	0	1	0	0	0	13703	536	19	1	5053	1	RSPH10B	7	6836259	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10		6836259	152302404	15	2549											
DDC	1644	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr7	50596997	50596997	+	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	gccgatggatcactttggtcCgagcggccagcagggccacc	7	6	14	14	3	1	0	1	0	0	0	2	3	2	1	5	4	2	1	5	4	0	1			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:50596997C>T	ENST00000444124.2	-	5	679	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.R160Q|DDC_ENST00000426377.1_Missense_Mutation_p.R82Q|DDC_ENST00000357936.5_Missense_Mutation_p.R160Q|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	160	2 X approximate tandem repeats.				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)	CACTTTGGTCCGAGCGGCCAG	0.557																																						.											0													53	53	53					7																	50596997		2203	4300	6503	SO:0001583	missense	1644				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.479G>A	7.37:g.50596997C>T	ENSP00000403644:p.Arg160Gln		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194391	0.94960	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.15	5.15	0.70609	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.101870	0.64402	D	0.000005	T	0.80460	0.4627	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87383	0.2358	10	0.87932	D	0	-1.2889	17.5599	0.87903	0.0:1.0:0.0:0.0	.	160	P20711	DDC_HUMAN	Q	160;82;160;160	ENSP00000350616:R160Q;ENSP00000395069:R82Q;ENSP00000403644:R160Q;ENSP00000370371:R160Q	ENSP00000350616:R160Q	R	-	2	0	DDC	50564491	1.000000	0.71417	0.997000	0.53966	0.688000	0.40055	6.680000	0.74518	2.673000	0.90976	0.655000	0.94253	CGG		0.557	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			T	50596997	C	T	50596997	3	4	35	1	0	0	0	0	1	0	0	0	4325	652	23	1	1003	1	DDC	7	50596997	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	43760738	50596997	108541666	16	2550											
MUC17	140453	mdanderson.org	37	chr7	100680117	100680117	+	Missense_Mutation	SNP	T	T	C																															ctcgactcttagtgaaggaaTgactccattaacaagcacac																								rs147353603	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	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					.											0													250	253	252					7																	100680117		2203	4300	6503	SO:0001583	missense	140453			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		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	35	1	0	0	0	0	1	0	0	0	9974	1464	51	4	5430	4	MUC17	7	100680117	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10	50083120	100680117	58458546	17	2551	73	2									
MUC17	140453	mdanderson.org	37	chr7	100680120	100680120	+	Missense_Mutation	SNP	C	C	A																															gactcttagtgaaggaatgaCtccattaacaagcacacctg																								rs147991653	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:100680120C>A	ENST00000306151.4	+	3	5487	c.5423C>A	c.(5422-5424)aCt>aAt	p.T1808N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1808	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.T1808N(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)					GAAGGAATGACTCCATTAACA	0.512													-|||	4	0.000798722	8e-04	0	5008	,	,		25905	0.003		0	False		,,,				2504	0					.											1	Substitution - Missense(1)	skin(1)											246	249	248					7																	100680120		2203	4300	6503	SO:0001583	missense	140453			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.5423C>A	7.37:g.100680120C>A	ENSP00000302716:p.Thr1808Asn		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	76	0.0347985347985348	28	0.056910569105691054	21	0.058011049723756904	12	0.02097902097902098	15	0.01978891820580475	c	0.142	-1.100945	0.01843	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	0.471	-0.615	0.11587	.	.	.	.	.	T	0.00210	0.0006	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	B	0.40677	0.337	T	0.51988	-0.8635	8	0.32370	T	0.25	.	.	.	.	.	1808	Q685J3	MUC17_HUMAN	N	1808	ENSP00000302716:T1808N	ENSP00000302716:T1808N	T	+	2	0	MUC17	100466840	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.305000	0.19254	-0.243000	0.09653	-1.404000	0.01136	ACT		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680120	C	A	100680120	3	1	35	1	0	0	0	0	1	0	0	0	9974	565	20	5	5433	5	MUC17	7	100680120	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	3	100680120	58458543	18	2552	73	2									
GIMAP8	155038	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	150171183	150171183	+	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	cagtcctccttgtggggaaaCgcggtgctggaaaaagtgca	10	8	14	9	2	0	0	0	0	0	0	2	2	2	2	2	4	3	2	2	4	3	1	rs576578780		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:150171183C>T	ENST00000307271.3	+	4	1340	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTGGGGAAACGCGGTGCTGG	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		17518	0		0	False		,,,				2504	0					.											0													89	89	89					7																	150171183		2203	4300	6503	SO:0001583	missense	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.766C>T	7.37:g.150171183C>T	ENSP00000305107:p.Arg256Cys			Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040312	0.35989	.	.	ENSG00000171115	ENST00000307271	T	0.61392	0.11	4.47	3.56	0.40772	AIG1 (1);	0.309039	0.23636	N	0.046066	T	0.74574	0.3734	M	0.82630	2.6	0.19300	N	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.65162	-0.6235	10	0.72032	D	0.01	.	9.4363	0.38641	0.2119:0.7881:0.0:0.0	.	256	Q8ND71	GIMA8_HUMAN	C	256	ENSP00000305107:R256C	ENSP00000305107:R256C	R	+	1	0	GIMAP8	149802116	0.005000	0.15991	0.231000	0.23993	0.139000	0.21198	0.617000	0.24359	1.074000	0.40909	0.650000	0.86243	CGC		0.557	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		T	150171183	C	T	150171183	3	4	35	1	0	0	0	0	1	0	0	0	6385	536	19	1	776	1	GIMAP8	7	150171183	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	49491063	150171183	8967480	19	2553											
EN2	2020	hgsc.bcm.edu	37	chr7	155251201	155251201	+	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	ccgggcgaagcggacaccggGcgccggcgggctctgatgct	5	4	18	14	7	1	1	0	1	1	0	1	3	1	2	3	5	2	2	3	5	1	0			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr7:155251201G>A	ENST00000297375.4	+	1	378	c.129G>A	c.(127-129)ggG>ggA	p.G43G	AC008060.8_ENST00000419225.1_lincRNA	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	43					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)		CGGACACCGGGCGCCGGCGGG	0.746																																						.											0													3	3	3					7																	155251201		1605	3163	4768	SO:0001819	synonymous_variant	2020				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.129G>A	7.37:g.155251201G>A			A4D252|Q549U3|Q9UD58	Silent	SNP	ENST00000297375.4	37	CCDS5940.1																																																																																				0.746	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		A	155251201	G	A	155251201	2	1	35	1	0	0	0	0	0	0	0	1	5110	1190	42	3		3	EN2	7	155251201	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	5080018	155251201	3887462	20	2554											
AMAC1L2	83650	mdanderson.org	37	chr8	11189604	11189604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcccggaacctcagctGtgagaggacagggaaggtgg	11	5	16	9	1	1	1	1	1	0	1	1	5	1	4	2	5	4	1	2	5	3	1			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:11189604G>T	ENST00000382435.4	+	1	1208	c.989G>T	c.(988-990)tGt>tTt	p.C330F		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	330						integral component of membrane (GO:0016021)											AACCTCAGCTGTGAGAGGACA	0.507																																						.											0													65	66	66					8																	11189604		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.989G>T	8.37:g.11189604G>T	ENSP00000371872:p.Cys330Phe		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	1.779	-0.482469	0.04383	.	.	ENSG00000177710	ENST00000382435	T	0.26957	1.7	.	.	.	.	0.000000	0.48767	D	0.000176	T	0.14787	0.0357	L	0.44542	1.39	0.32802	D	0.500314	B	0.06786	0.001	B	0.04013	0.001	T	0.41963	-0.9479	8	0.02654	T	1	-4.1531	.	.	.	.	330	Q96KT7	S35G5_HUMAN	F	330	ENSP00000371872:C330F	ENSP00000371872:C330F	C	+	2	0	SLC35G5	11227014	0.285000	0.24296	0.299000	0.25016	0.299000	0.27559	1.275000	0.33144	0.064000	0.16427	0.064000	0.15345	TGT		0.507	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189604	G	T	11189604	3	4	35	1	0	0	0	0	1	0	0	0	560	1377	48	5	991	5	AMAC1L2	8	11189604	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		11189604	135174418	21	2555			1	21		2	2	13	G		2.48085e-05
AMAC1L2	83650	mdanderson.org	37	chr8	11189616	11189616	+	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	cctcagctgtgagaggacagGgaaggtggaggagtgagata	12	6	18	5	0	1	2	1	2	0	2	1	8	1	6	1	5	1	1	1	5	2	1	rs200495954		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:11189616G>A	ENST00000382435.4	+	1	1220	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	334						integral component of membrane (GO:0016021)											GAGAGGACAGGGAAGGTGGAG	0.498																																						.											0													55	58	57					8																	11189616		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.1001G>A	8.37:g.11189616G>A	ENSP00000371872:p.Gly334Glu		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	5.777	0.327688	0.10956	.	.	ENSG00000177710	ENST00000382435	T	0.38560	1.13	.	.	.	.	0.350088	0.20838	N	0.084754	T	0.26484	0.0647	L	0.50333	1.59	0.28172	N	0.928524	B	0.06786	0.001	B	0.04013	0.001	T	0.35574	-0.9783	8	0.02654	T	1	-1.4658	.	.	.	.	334	Q96KT7	S35G5_HUMAN	E	334	ENSP00000371872:G334E	ENSP00000371872:G334E	G	+	2	0	SLC35G5	11227026	0.086000	0.21541	0.277000	0.24703	0.278000	0.26855	-0.233000	0.09041	0.064000	0.16427	0.064000	0.15345	GGG		0.498	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11189616	G	A	11189616	3	1	35	1	0	0	0	0	1	0	0	0	560	1232	43	3	1003	3	AMAC1L2	8	11189616	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	12	11189616	135174406	22	2556			1	21		2	2	13	G		2.48085e-05
TNFRSF10C	8794	broad.mit.edu	37	chr8	22974315	22974315	+	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	agctgctgaagagacaatgaAcaccagcccggggactcctg	12	5	12	12	1	0	3	0	2	0	1	1	5	1	4	3	2	4	2	3	2	3	0	rs61736405		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:22974315A>C	ENST00000356864.3	+	5	1083	c.551A>C	c.(550-552)aAc>aCc	p.N184T	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.N82T	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	184					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.N184T(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAGACAATGAACACCAGCCCG	0.602																																						.											1	Substitution - Missense(1)	skin(1)											68	80	76					8																	22974315		2203	4297	6500	SO:0001583	missense	8794			AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.551A>C	8.37:g.22974315A>C	ENSP00000349324:p.Asn184Thr		O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	A	1.881	-0.457883	0.04508	.	.	ENSG00000173535	ENST00000356864;ENST00000540813;ENST00000544885	T;T	0.62788	0.0;1.25	.	.	.	.	0.568776	0.17737	U	0.163718	T	0.28400	0.0702	N	0.03608	-0.345	0.22213	N	0.999289	P	0.38110	0.618	B	0.33690	0.168	T	0.14924	-1.0455	9	0.37606	T	0.19	.	2.8413	0.05530	0.5024:0.497:2.0E-4:3.0E-4	rs61736405	184	O14798	TR10C_HUMAN	T	184;82;184	ENSP00000349324:N184T;ENSP00000437612:N82T	ENSP00000349324:N184T	N	+	2	0	TNFRSF10C	23030260	0.001000	0.12720	0.054000	0.19295	0.104000	0.19210	0.918000	0.28678	0.077000	0.16863	0.076000	0.15429	AAC		0.602	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			C	22974315	A	C	22974315	3	2	35	1	0	0	0	0	1	0	0	0	16279	43	2	5	569	5	TNFRSF10C	8	22974315	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	11784699	22974315	123389707	23	2557											
DENND3	22898	broad.mit.edu	37	chr8	142175380	142175380	+	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	gacctcgacacccagtcggaGgaggacaggtgcttcactgt	9	7	13	12	2	1	0	1	0	0	0	3	5	1	3	2	4	1	1	2	4	0	1			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:142175380G>A	ENST00000262585.2	+	11	1583	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	DENND3_ENST00000424248.1_Silent_p.E383E|DENND3_ENST00000519811.1_Silent_p.E515E	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	435					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)			CCCAGTCGGAGGAGGACAGGT	0.468																																						.											0													137	136	136					8																	142175380		2203	4300	6503	SO:0001819	synonymous_variant	22898			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.1305G>A	8.37:g.142175380G>A			B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	2.980	-0.210423	0.06140	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.42	-6.03	0.02185	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.44702	D	0.997698	.	.	.	.	.	.	T	0.58086	-0.7698	4	.	.	.	-28.1093	12.2339	0.54503	0.7261:0.0996:0.1743:0.0	.	.	.	.	R	440	.	.	G	+	1	0	DENND3	142244562	0.927000	0.31430	0.025000	0.17156	0.514000	0.34195	0.069000	0.14552	-1.210000	0.02627	-0.258000	0.10820	GGA		0.468	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		A	142175380	G	A	142175380	2	1	35	1	0	0	0	0	0	0	0	1	4432	991	35	4		4	DENND3	8	142175380	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	119201065	142175380	4188642	24	2558											
SLC45A4	57210	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	142221657	142221657	+	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	caactcgctgaggaaaagaaGatacgtcattcttctaagag	15	9	9	8	2	3	4	1	1	2	3	4	5	3	5	0	1	2	1	0	1	6	4			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr8:142221657G>A	ENST00000024061.3	-	8	2588	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F	SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000433583.2_3'UTR|SLC45A4_ENST00000517878.1_3'UTR	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGAAAAGAAGATACGTCATT	0.493																																						.											0													83	95	91					8																	142221657		2203	4300	6503	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2281C>T	8.37:g.142221657G>A	ENSP00000024061:p.Leu761Phe		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758385	0.15846	.	.	ENSG00000022567	ENST00000024061	T	0.18338	2.22	3.9	0.867	0.19085	.	.	.	.	.	T	0.10380	0.0254	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34825	-0.9813	8	0.87932	D	0	.	1.1891	0.01861	0.2061:0.2557:0.3799:0.1582	.	761	Q5BKX6-3	.	F	761	ENSP00000024061:L761F	ENSP00000024061:L761F	L	-	1	0	SLC45A4	142290839	0.007000	0.16637	0.001000	0.08648	0.070000	0.16714	0.710000	0.25748	0.435000	0.26365	0.655000	0.94253	CTT		0.493	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		A	142221657	G	A	142221657	3	1	35	1	0	0	0	0	1	0	0	0	14643	942	33	4	119	4	SLC45A4	8	142221657	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	46277	142221657	4142365	25	2559											
AQP7	364	mdanderson.org	37	chr9	33385786	33385786	+	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	gatgcctatcaccagcgcctCtgttcctggcagtgctgggt	5	11	12	13	1	2	0	1	0	1	0	3	1	3	0	4	2	3	3	4	2	1	2	rs76908057		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr9:33385786C>G	ENST00000537089.1	-	6	646	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	AQP7_ENST00000377425.4_Missense_Mutation_p.E145Q|AQP7_ENST00000539936.1_Missense_Mutation_p.E202Q|AQP7_ENST00000541274.1_Missense_Mutation_p.R70T			O14520	AQP7_HUMAN	aquaporin 7	202					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)		ACCAGCGCCTCTGTTCCTGGC	0.617																																						.											0													112	100	104					9																	33385786		2203	4300	6503	SO:0001583	missense	364			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.328G>C	9.37:g.33385786C>G	ENSP00000441619:p.Glu110Gln		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	3.965|3.965	-0.009525|-0.009525	0.07727|0.07727	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	D;D;D;D;D;D;D;D;D|T	0.85171|0.51325	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95|0.71	5.02|5.02	3.11|3.11	0.35812|0.35812	Aquaporin-like (2);|.	0.285780|.	0.38326|.	N|.	0.001735|.	T|T	0.23688|0.23688	0.0573|0.0573	N|N	0.01817|0.01817	-0.705|-0.705	0.40946|0.40946	P|P	0.015494000000000008|0.015494000000000008	B;B;B;B|B	0.06786|0.02656	0.0;0.0;0.001;0.001|0.0	B;B;B;B|B	0.12837|0.01281	0.001;0.001;0.004;0.008|0.0	T|T	0.10109|0.10109	-1.0644|-1.0644	9|8	0.26408|0.32370	T|T	0.33|0.25	-2.4877|-2.4877	14.8905|14.8905	0.70606|0.70606	0.0:0.6125:0.3875:0.0|0.0:0.6125:0.3875:0.0	.|.	201;202;145;202|70	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	Q|T	110;201;70;202;145;110;201;202;138|70	ENSP00000441619:E110Q;ENSP00000368821:E201Q;ENSP00000412868:E70Q;ENSP00000297988:E202Q;ENSP00000396111:E145Q;ENSP00000410138:E110Q;ENSP00000368820:E201Q;ENSP00000439534:E202Q;ENSP00000368817:E138Q|ENSP00000438860:R70T	ENSP00000297988:E202Q|ENSP00000438860:R70T	E|R	-|-	1|2	0|0	AQP7|AQP7	33375786|33375786	0.056000|0.056000	0.20664|0.20664	0.962000|0.962000	0.40283|0.40283	0.164000|0.164000	0.22412|0.22412	0.682000|0.682000	0.25335|0.25335	0.263000|0.263000	0.21812|0.21812	-0.139000|-0.139000	0.14373|0.14373	GAG|AGA		0.617	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		G	33385786	C	G	33385786	3	3	35	1	0	0	0	0	1	0	0	0	831	922	32	5	432	5	AQP7	9	33385786	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10		33385786	107827645	26	2560											
TMEM2	23670	ucsc.edu;bcgsc.ca	37	chr9	74300250	74300250	+	Missense_Mutation	SNP	T	T	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	gccctgtccagcaggactggTaaatagcttagtccatgatg	10	10	11	10	0	0	1	0	1	0	0	2	2	2	2	3	2	2	3	3	2	4	3			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr9:74300250T>C	ENST00000377044.4	-	24	4554	c.4015A>G	c.(4015-4017)Acc>Gcc	p.T1339A	TMEM2_ENST00000377066.5_Missense_Mutation_p.T1276A|TMEM2_ENST00000396272.3_Missense_Mutation_p.T332A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1339					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCAGGACTGGTAAATAGCTTA	0.398																																						.											0													83	77	79					9																	74300250		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.4015A>G	9.37:g.74300250T>C	ENSP00000366243:p.Thr1339Ala		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950605	0.34377	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.74632	-0.86;-0.78;2.32	5.53	4.38	0.52667	.	0.226336	0.43919	D	0.000502	T	0.64204	0.2577	L	0.33485	1.01	0.48632	D	0.999688	B;B	0.18968	0.019;0.032	B;B	0.23275	0.02;0.045	T	0.64007	-0.6508	10	0.56958	D	0.05	.	11.5812	0.50891	0.0:0.071:0.0:0.929	.	1339;1276	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	A	1339;1276;332	ENSP00000366243:T1339A;ENSP00000366266:T1276A;ENSP00000379569:T332A	ENSP00000366243:T1339A	T	-	1	0	TMEM2	73490070	1.000000	0.71417	0.953000	0.39169	0.996000	0.88848	4.180000	0.58296	2.103000	0.63969	0.454000	0.30748	ACC		0.398	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74300250	T	C	74300250	3	2	35	1	0	0	0	0	1	0	0	0	16118	1638	57	2	140	2	TMEM2	9	74300250	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10	40914464	74300250	66913181	27	2561											
SLC46A2	57864	bcgsc.ca	37	chr9	115652859	115652859	+	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	gagtagccccgcatcgtagaGggaggcagccacctgggacg	9	4	16	12	3	0	1	0	0	0	1	1	4	0	3	4	3	2	4	4	3	2	2			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr9:115652859G>A	ENST00000374228.4	-	1	334	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	35					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GCATCGTAGAGGGAGGCAGCC	0.701																																						.											0													45	47	46					9																	115652859		2203	4300	6503	SO:0001583	missense	57864			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.103C>T	9.37:g.115652859G>A	ENSP00000363345:p.Leu35Phe		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	G	7.339	0.620583	0.14193	.	.	ENSG00000119457	ENST00000374228	T	0.52754	0.65	5.11	3.0	0.34707	.	0.224065	0.45606	D	0.000352	T	0.23330	0.0564	N	0.12182	0.205	0.32707	N	0.512117	B	0.14012	0.009	B	0.10450	0.005	T	0.12682	-1.0538	10	0.23302	T	0.38	-16.569	4.2995	0.10918	0.4949:0.0:0.5051:0.0	.	35	Q9BY10	TSCOT_HUMAN	F	35	ENSP00000363345:L35F	ENSP00000363345:L35F	L	-	1	0	SLC46A2	114692680	1.000000	0.71417	0.983000	0.44433	0.892000	0.51952	3.606000	0.54095	1.145000	0.42336	0.650000	0.86243	CTC		0.701	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		A	115652859	G	A	115652859	3	1	35	1	0	0	0	0	1	0	0	0	14645	1000	35	4	1340	4	SLC46A2	9	115652859	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	41352609	115652859	25560572	28	2562											
ZBTB34	403341	ucsc.edu	37	chr9	129642226	129642226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccaccgcaagcagtgAcctccggatggagacgaccc	10	3	12	16	3	0	2	0	1	0	1	1	5	1	3	5	2	2	3	5	2	1	0			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr9:129642226A>G	ENST00000373452.2	+	1	600	c.536A>G	c.(535-537)gAc>gGc	p.D179G	ZBTB34_ENST00000319119.4_Missense_Mutation_p.D183G			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GCAAGCAGTGACCTCCGGATG	0.587																																						.											0													48	53	52					9																	129642226		1979	4155	6134	SO:0001583	missense	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.536A>G	9.37:g.129642226A>G	ENSP00000362551:p.Asp179Gly		Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.728981	0.69074	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.13420	2.59;2.61	5.54	5.54	0.83059	.	0.105167	0.64402	D	0.000006	T	0.10680	0.0261	N	0.24115	0.695	0.58432	D	0.999997	B	0.20780	0.048	B	0.20384	0.029	T	0.19224	-1.0312	10	0.16896	T	0.51	.	15.9596	0.79918	1.0:0.0:0.0:0.0	.	179	Q8NCN2	ZBT34_HUMAN	G	183;179	ENSP00000317534:D183G;ENSP00000362551:D179G	ENSP00000317534:D183G	D	+	2	0	ZBTB34	128682047	1.000000	0.71417	0.258000	0.24420	0.704000	0.40688	8.601000	0.90864	2.220000	0.72140	0.533000	0.62120	GAC		0.587	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		G	129642226	A	G	129642226	3	3	35	1	0	0	0	0	1	0	0	0	17534	275	10	2	538	2	ZBTB34	9	129642226	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	13989367	129642226	11571205	29	2563											
TUBB8	347688	mdanderson.org	37	chr10	93778	93778	+	Missense_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	gctggtggactgagagggtgGcgttgtagggctccaccacg	6	8	18	9	2	0	1	0	1	0	1	1	3	1	2	2	5	0	4	2	5	1	2			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr10:93778G>A	ENST00000309812.4	-	4	616	c.554C>T	c.(553-555)gCc>gTc	p.A185V	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.A113V	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	185					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)		TGAGAGGGTGGCGTTGTAGGG	0.517																																					Pancreas(192;2041 3010 9013 18103)	.											0													109	99	102					10																	93778		2203	4296	6499	SO:0001583	missense	347688			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.554C>T	10.37:g.93778G>A	ENSP00000311042:p.Ala185Val		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641506	0.47153	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.77358	-1.09	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.56097	U	0.000022	D	0.87470	0.6185	M	0.92459	3.31	0.36968	D	0.893686	D;D	0.76494	0.997;0.999	D;D	0.75020	0.983;0.985	D	0.86042	0.1520	9	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	148;185	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	V	113;151;148;185	ENSP00000403895:A113V	ENSP00000272035:A151V	A	-	2	0	RP11-631M21.2	83778	1.000000	0.71417	0.341000	0.25589	0.344000	0.29017	6.543000	0.73874	0.119000	0.18210	0.121000	0.15741	GCC		0.517	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	93778	G	A	93778	3	1	35	1	0	0	0	0	1	0	0	0	16758	1203	42	3	784	3	TUBB8	10	93778	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		93778	135440969	30	2564											
FRG2B	441581	mdanderson.org	37	chr10	135439077	135439077	+	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	gatcttgattttttattcaaTgacaagctgcactccttttc	9	18	5	9	0	2	2	1	2	1	0	4	3	3	2	1	0	2	2	1	0	3	7	rs201483744		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr10:135439077T>C	ENST00000425520.1	-	4	415	c.363A>G	c.(361-363)tcA>tcG	p.S121S	FRG2B_ENST00000443774.1_Silent_p.S122S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	121						nucleus (GO:0005634)		p.S122S(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		TTTTATTCAATGACAAGCTGC	0.517																																						.											1	Substitution - coding silent(1)	kidney(1)											33	40	37					10																	135439077		2128	4248	6376	SO:0001819	synonymous_variant	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.363A>G	10.37:g.135439077T>C			Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																				0.517	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		C	135439077	T	C	135439077	2	2	35	1	0	0	0	0	0	0	0	1	6047	1451	51	4		4	FRG2B	10	135439077	Silent	SNP	T	TCGA-KN-8419-01A-11D-2310-10	135345299	135439077	95670	31	2565											
TRIM48	79097	mdanderson.org	37	chr11	55032663	55032663	+	Missense_Mutation	SNP	T	T	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	tgaggagcaaatgtgtggcaTtcacagggagacaaagaaga	16	6	14	5	0	1	4	1	1	0	3	1	6	1	5	0	3	1	2	0	3	3	1	rs200778682	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr11:55032663T>C	ENST00000417545.2	+	2	418	c.332T>C	c.(331-333)aTt>aCt	p.I111T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	95						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGTGTGGCATTCACAGGGAG	0.498																																						.											0													98	90	93					11																	55032663		2188	4256	6444	SO:0001583	missense	79097			AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.332T>C	11.37:g.55032663T>C	ENSP00000402414:p.Ile111Thr		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.612529	0.00120	.	.	ENSG00000150244	ENST00000417545	T	0.40476	1.03	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.13114	0.0318	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	9	0.02654	T	1	.	1.7225	0.02915	0.3221:0.4182:0.0:0.2597	.	95	Q8IWZ4	TRI48_HUMAN	T	111	ENSP00000402414:I111T	ENSP00000402414:I111T	I	+	2	0	TRIM48	54789239	0.000000	0.05858	0.154000	0.22540	0.130000	0.20726	-4.117000	0.00292	-0.174000	0.10743	-1.141000	0.01876	ATT		0.498	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			C	55032663	T	C	55032663	3	2	35	1	0	0	0	0	1	0	0	0	16520	1493	52	4	338	4	TRIM48	11	55032663	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10		55032663	79973853	32	2566											
NAA40	79829	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	63719920	63719920	+	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	ctggaaggaccgagagaaacGggaggaaatgacagatgacc	16	3	15	7	2	0	4	0	2	0	2	0	10	0	8	2	4	1	0	2	4	3	0			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr11:63719920G>A	ENST00000377793.4	+	5	394	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	NAA40_ENST00000456907.2_Missense_Mutation_p.R58Q|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.R77Q	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	98	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						CGAGAGAAACGGGAGGAAATG	0.577																																						.											0													178	164	169					11																	63719920		2201	4297	6498	SO:0001583	missense	79829			AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.293G>A	11.37:g.63719920G>A	ENSP00000367024:p.Arg98Gln		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491315	0.84962	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.44482	0.92;0.92;0.92	5.72	4.8	0.61643	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.051476	0.64402	D	0.000001	T	0.40645	0.1125	N	0.26092	0.79	0.80722	D	1	B;D	0.69078	0.019;0.997	B;P	0.53062	0.003;0.717	T	0.05818	-1.0862	10	0.26408	T	0.33	-0.0172	13.9782	0.64285	0.0754:0.0:0.9245:0.0	.	58;98	B4DU10;Q86UY6	.;NAA40_HUMAN	Q	98;58;77	ENSP00000367024:R98Q;ENSP00000407578:R58Q;ENSP00000442055:R77Q	ENSP00000367024:R98Q	R	+	2	0	NAA40	63476496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.585000	0.67497	2.692000	0.91855	0.555000	0.69702	CGG		0.577	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		A	63719920	G	A	63719920	3	1	35	1	0	0	0	0	1	0	0	0	10125	1116	39	1	311	1	NAA40	11	63719920	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	8687257	63719920	71286596	33	2567											
KRT84	3890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	52777475	52777475	+	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	aactgcctccgcaggttggtGatgtagctctcgaagagtgg	8	10	14	9	2	1	2	0	1	1	1	3	3	2	2	2	3	3	4	2	3	3	2			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr12:52777475G>A	ENST00000257951.3	-	2	720	c.654C>T	c.(652-654)atC>atT	p.I218I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	218	Coil 1B.|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)		GCAGGTTGGTGATGTAGCTCT	0.547																																						.											0													77	73	74					12																	52777475		2203	4300	6503	SO:0001819	synonymous_variant	3890			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.654C>T	12.37:g.52777475G>A			B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	CCDS8825.1																																																																																				0.547	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		A	52777475	G	A	52777475	2	1	35	1	0	0	0	0	0	0	0	1	8498	1280	45	4		4	KRT84	12	52777475	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10		52777475	81074420	34	2568											
IRAK3	11213	bcgsc.ca	37	chr12	66597673	66597673	+	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	ttcatttaattacaaactatGgtaaatgctgattcttataa	15	17	4	5	0	2	1	1	1	1	0	2	1	2	1	0	1	3	2	0	1	8	9			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr12:66597673G>T	ENST00000261233.4	+	2	737	c.316G>T	c.(316-318)Gga>Tga	p.G106*	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TACAAACTATGGTAAATGCTG	0.378																																						.											0													104	104	104					12																	66597673		2203	4300	6503	SO:0001630	splice_region_variant	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.316+1G>T	12.37:g.66597673G>T				Nonsense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	37	6.621589	0.97714	.	.	ENSG00000090376	ENST00000261233	.	.	.	5.93	5.93	0.95920	.	0.067824	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.5857	15.8335	0.78778	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	.	G	+	1	0	IRAK3	64883940	1.000000	0.71417	0.969000	0.41365	0.031000	0.12232	4.823000	0.62694	2.818000	0.97014	0.591000	0.81541	GGA		0.378	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		Nonsense_Mutation	T	66597673	G	T	66597673	5	4	35	1	0	0	0	0	0	0	1	0	7824	1362	47	5	322	5	IRAK3	12	66597673	Splice_Site	SNP	G	TCGA-KN-8419-01A-11D-2310-10	13820198	66597673	67254222	35	2569											
SELPLG	6404	hgsc.bcm.edu	37	chr12	109017489	109017489	+	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	tgcagtggtctgtgcctccaTggctgctggtgcagtggtct	3	13	15	10	0	2	0	0	0	2	0	3	0	3	0	2	4	4	4	2	4	0	0	rs559346809	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr12:109017489T>G	ENST00000550948.1	-	2	819	c.595A>C	c.(595-597)Atg>Ctg	p.M199L	SELPLG_ENST00000228463.6_Missense_Mutation_p.M215L|SELPLG_ENST00000388962.3_Missense_Mutation_p.M189L			Q14242	SELPL_HUMAN	selectin P ligand	199	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						TGTGCCTCCATGGCTGCTGGT	0.617													T|||	11	0.00219649	0.0076	0	5008	,	,		18945	0		0	False		,,,				2504	0.001					.											0													163	141	148					12																	109017489		2203	4300	6503	SO:0001583	missense	6404				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.595A>C	12.37:g.109017489T>G	ENSP00000447752:p.Met199Leu		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	T	6.805	0.517561	0.13005	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.13538	2.58;2.58;2.58	3.31	2.09	0.27110	.	0.862879	0.09676	N	0.770477	T	0.11281	0.0275	L	0.38175	1.15	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	0.29761	-1.0001	10	0.66056	D	0.02	-6.6031	5.9197	0.19076	0.2255:0.0:0.1387:0.6358	.	215;199;159	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	L	189;199;215	ENSP00000373614:M189L;ENSP00000447752:M199L;ENSP00000228463:M215L	ENSP00000228463:M215L	M	-	1	0	SELPLG	107541618	0.002000	0.14202	0.004000	0.12327	0.004000	0.04260	0.391000	0.20784	0.599000	0.29845	0.402000	0.26972	ATG		0.617	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			G	109017489	T	G	109017489	3	3	35	1	0	0	0	0	1	0	0	0	14020	1464	51	5	647	5	SELPLG	12	109017489	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10	42419816	109017489	24834406	36	2570											
OASL	8638	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	121471492	121471492	+	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	gaaacagctcagaaacgccaCcagctccacctctctggtgc	11	6	8	16	1	2	1	1	0	1	1	4	2	3	1	4	1	5	2	4	1	2	0			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr12:121471492C>A	ENST00000257570.5	-	2	523	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L	OASL_ENST00000339275.5_Missense_Mutation_p.V85L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	85					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)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAAACGCCACCAGCTCCACC	0.577																																					Colon(192;517 2041 31392 31913 39966)	.											0													108	108	108					12																	121471492		2203	4300	6503	SO:0001583	missense	8638			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.253G>T	12.37:g.121471492C>A	ENSP00000257570:p.Val85Leu		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231115	0.79688	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.11821	2.74;2.74	4.52	4.52	0.55395	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	0.000000	0.47852	D	0.000203	T	0.29458	0.0734	M	0.74647	2.275	0.26569	N	0.973596	P;B	0.48089	0.905;0.423	P;B	0.54460	0.753;0.063	T	0.05178	-1.0901	10	0.52906	T	0.07	-1.1453	12.9391	0.58333	0.0:1.0:0.0:0.0	.	85;85	Q15646-2;Q15646	.;OASL_HUMAN	L	85	ENSP00000257570:V85L;ENSP00000341125:V85L	ENSP00000257570:V85L	V	-	1	0	OASL	119955875	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.113000	0.57851	2.496000	0.84212	0.555000	0.69702	GTG		0.577	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		A	121471492	C	A	121471492	3	1	35	1	0	0	0	0	1	0	0	0	10802	507	18	5	1311	5	OASL	12	121471492	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	12454003	121471492	12380403	37	2571											
SPTB	6710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	65245965	65245965	+	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	agcctctcctccacccaaagCtgcagagaccaggaggcagg	11	4	11	15	0	1	1	0	0	1	1	3	3	2	2	5	3	3	3	5	3	1	0			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:65245965C>T	ENST00000389721.5	-	21	4506		c.e21-1		SPTB_ENST00000542895.1_Splice_Site|SPTB_ENST00000389720.3_Splice_Site|SPTB_ENST00000389722.3_Splice_Site|SPTB_ENST00000556626.1_Splice_Site	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						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)		CCACCCAAAGCTGCAGAGACC	0.572																																						.											0													56	61	59					14																	65245965		2203	4300	6503	SO:0001630	splice_region_variant	6710				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.4474-1G>A	14.37:g.65245965C>T			Q15510|Q15519	Splice_Site	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445979	0.84101	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9238	0.88976	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTB	64315718	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.781000	0.85668	2.579000	0.87056	0.561000	0.74099	.		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		Intron	T	65245965	C	T	65245965	5	4	35	1	0	0	0	0	0	0	1	0	15117	811	28	4	2642	4	SPTB	14	65245965	Splice_Site	SNP	C	TCGA-KN-8419-01A-11D-2310-10		65245965	42103575	38	2572											
KIAA0284	283638	ucsc.edu;mdanderson.org	37	chr14	105349472	105349472	+	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	cggcgggagcccagctacttCgagatccccacgaaggagac	10	4	13	14	4	0	2	0	0	0	2	2	6	1	3	3	3	3	1	3	3	2	2	rs12101026	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:105349472C>T	ENST00000414716.3	+	8	906	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CEP170B_ENST00000453495.1_Silent_p.F227F|CEP170B_ENST00000556508.1_Silent_p.F156F|CEP170B_ENST00000418279.1_Silent_p.F156F	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	226						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCAGCTACTTCGAGATCCCCA	0.716													c|||	432	0.086262	0.3116	0.0187	5008	,	,		12202	0		0.005	False		,,,				2504	0.002					.											0									,	835,3005		84,667,1169	11	16	14		678,468	-3.9	1	14	dbSNP_120	14	29,8183		0,29,4077	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	84,696,5246	TT,TC,CC		0.3531,21.7448,7.1689	,	226/1555,156/1520	105349472	864,11188	1920	4106	6026	SO:0001819	synonymous_variant	283638			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.678C>T	14.37:g.105349472C>T			Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																				0.716	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		T	105349472	C	T	105349472	2	4	35	1	0	0	0	0	0	0	0	1	8166	883	31	1		1	KIAA0284	14	105349472	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	40103507	105349472	2000068	39	2573											
AHNAK2	113146	mdanderson.org	37	chr14	105410417	105410417	+	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	agtcacatccttgtcggccaGggacaggtccccctccagct	7	8	10	16	1	1	0	1	0	0	0	5	1	4	1	5	3	1	1	5	3	0	1	rs200284292	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:105410417G>A	ENST00000333244.5	-	7	11490	c.11371C>T	c.(11371-11373)Ctg>Ttg	p.L3791L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3791						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)			TTGTCGGCCAGGGACAGGTCC	0.582													.|||	177	0.0353435	0.053	0.0231	5008	,	,		20409	0.0417		0.004	False		,,,				2504	0.046					.											0													216	217	217					14																	105410417		1998	4162	6160	SO:0001819	synonymous_variant	113146			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.11371C>T	14.37:g.105410417G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105410417	G	A	105410417	2	1	35	1	0	0	0	0	0	0	0	1	415	991	35	4		4	AHNAK2	14	105410417	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	60945	105410417	1939123	40	2574			2	22		3	3	2727	G		1.581542e-05
AHNAK2	113146	mdanderson.org	37	chr14	105410435	105410435	+	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	cagggacaggtccccctccaGctgtgcactatccagtttgg	7	9	11	14	0	0	0	0	0	0	0	3	1	3	1	4	3	2	3	4	3	1	2	rs201237638	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:105410435G>A	ENST00000333244.5	-	7	11472	c.11353C>T	c.(11353-11355)Ctg>Ttg	p.L3785L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3785						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)			TCCCCCTCCAGCTGTGCACTA	0.582													.|||	181	0.0361422	0.0545	0.0245	5008	,	,		20290	0.0437		0.004	False		,,,				2504	0.045					.											0													195	197	196					14																	105410435		1999	4161	6160	SO:0001819	synonymous_variant	113146			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.11353C>T	14.37:g.105410435G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105410435	G	A	105410435	2	1	35	1	0	0	0	0	0	0	0	1	415	962	34	4		4	AHNAK2	14	105410435	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	18	105410435	1939105	41	2575			2	22		3	3	2727	G		1.581542e-05
AHNAK2	113146	mdanderson.org	37	chr14	105413143	105413143	+	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	cctcgggaacgtggccctctGggagtttcacgtccacctgg	5	9	13	14	3	2	0	1	0	1	0	4	2	3	2	4	4	1	1	4	4	1	1	rs201434975	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr14:105413143G>A	ENST00000333244.5	-	7	8764	c.8645C>T	c.(8644-8646)cCa>cTa	p.P2882L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2882						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)			GTGGCCCTCTGGGAGTTTCAC	0.622																																						.											0													121	131	128					14																	105413143		1909	4115	6024	SO:0001583	missense	113146			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.8645C>T	14.37:g.105413143G>A	ENSP00000353114:p.Pro2882Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	8.332	0.826661	0.16749	.	.	ENSG00000185567	ENST00000333244	T	0.03272	3.99	3.27	1.39	0.22231	.	.	.	.	.	T	0.07728	0.0194	M	0.83384	2.64	0.09310	N	1	B	0.15473	0.013	B	0.17979	0.02	T	0.18178	-1.0345	9	0.72032	D	0.01	.	8.7413	0.34558	0.0941:0.0:0.7578:0.1481	.	2882	Q8IVF2	AHNK2_HUMAN	L	2882	ENSP00000353114:P2882L	ENSP00000353114:P2882L	P	-	2	0	AHNAK2	104484188	0.015000	0.18098	0.000000	0.03702	0.000000	0.00434	1.021000	0.30040	-0.178000	0.10672	-4.235000	0.00009	CCA		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105413143	G	A	105413143	3	1	35	1	0	0	0	0	1	0	0	0	415	1348	47	4	8746	4	AHNAK2	14	105413143	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	2708	105413143	1936397	42	2576			2	22		3	3	2727	G		1.581542e-05
OR4N4	283694	mdanderson.org	37	chr15	22383138	22383138	+	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	gcttcctatgcagtcatcctCtgccatgttcgtagggcagc	6	12	10	13	1	2	0	1	0	1	0	5	0	4	0	3	1	3	5	3	1	2	4			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr15:22383138C>G	ENST00000328795.4	+	1	757	c.666C>G	c.(664-666)ctC>ctG	p.L222L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAGTCATCCTCTGCCATGTTC	0.498																																						.											0													163	135	145					15																	22383138		2192	4261	6453	SO:0001819	synonymous_variant	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.666C>G	15.37:g.22383138C>G			Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																				0.498	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			G	22383138	C	G	22383138	2	3	35	1	0	0	0	0	0	0	0	1	11078	900	32	5		5	OR4N4	15	22383138	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10		22383138	80148254	43	2577											
CHTF18	63922	mdanderson.org	37	chr16	840607	840607	+	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	acggtcaagacgcctccagtCactgcctctgggtggatgag	8	8	13	12	2	3	2	2	1	1	1	4	3	4	3	3	3	1	0	3	3	1	0	rs149274107	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr16:840607C>G	ENST00000262315.9	+	7	898	c.835C>G	c.(835-837)Cac>Gac	p.H279D	RPUSD1_ENST00000567114.1_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000455171.2_Missense_Mutation_p.H307D|CHTF18_ENST00000317063.6_Missense_Mutation_p.H474D|RPUSD1_ENST00000565809.1_5'Flank|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000491530.1_3'UTR	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	279					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)				CGCCTCCAGTCACTGCCTCTG	0.632													C|||	39	0.00778754	0.0295	0	5008	,	,		13649	0		0	False		,,,				2504	0					.											0								C	ASP/HIS	97,4023		1,95,1964	34	39	38		835	4.2	0.9	16	dbSNP_134	38	0,8378		0,0,4189	yes	missense	CHTF18	NM_022092.2	81	1,95,6153	GG,GC,CC		0.0,2.3544,0.7761	benign	279/976	840607	97,12401	2060	4189	6249	SO:0001583	missense	63922			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.835C>G	16.37:g.840607C>G	ENSP00000262315:p.His279Asp		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	18|18	0.008241758241758242|0.008241758241758242	18|18	0.036585365853658534|0.036585365853658534	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	10.75|10.75	1.439532|1.439532	0.25900|0.25900	0.023544|0.023544	0.0|0.0	ENSG00000127586|ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315|ENST00000426047	T;T;T|.	0.09723|.	2.95;3.0;2.99|.	5.2|5.2	4.18|4.18	0.49190|0.49190	.|.	0.215873|.	0.48767|.	D|.	0.000165|.	T|.	0.22244|.	0.0536|.	L|L	0.34521|0.34521	1.04|1.04	0.49582|0.49582	D|D	0.999803|0.999803	P;P|.	0.44006|.	0.824;0.73|.	B;B|.	0.38020|.	0.263;0.135|.	T|.	0.17137|.	-1.0379|.	10|.	0.12103|0.30854	T|T	0.63|0.27	-28.5535|-28.5535	12.2151|12.2151	0.54402|0.54402	0.1711:0.8288:0.0:0.0|0.1711:0.8288:0.0:0.0	.|.	307;279|.	Q8WVB6-2;Q8WVB6|.	.;CTF18_HUMAN|.	D|X	474;307;279|174	ENSP00000313029:H474D;ENSP00000406252:H307D;ENSP00000262315:H279D|.	ENSP00000262315:H279D|ENSP00000412015:S174X	H|S	+|+	1|2	0|0	CHTF18|CHTF18	780608|780608	0.929000|0.929000	0.31497|0.31497	0.872000|0.872000	0.34217|0.34217	0.050000|0.050000	0.14768|0.14768	3.112000|3.112000	0.50368|0.50368	2.436000|2.436000	0.82500|0.82500	0.478000|0.478000	0.44815|0.44815	CAC|TCA		0.632	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	840607	C	G	840607	3	3	35	1	0	0	0	0	1	0	0	0	3414	826	29	5	861	5	CHTF18	16	840607	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10		840607	89514146	44	2578											
CHTF18	63922	mdanderson.org	37	chr16	845819	845819	+	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	ctgctcctggacattcttgcAcccaagctccgccccgtgag	6	9	9	17	2	1	1	0	1	1	0	3	2	3	2	5	1	3	3	5	1	1	2	rs2294446	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr16:845819A>G	ENST00000262315.9	+	17	2373	c.2310A>G	c.(2308-2310)gcA>gcG	p.A770A	CHTF18_ENST00000455171.2_Silent_p.A798A|CHTF18_ENST00000317063.6_Silent_p.A979A	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	770					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)				ACATTCTTGCACCCAAGCTCC	0.687													N|||	988	0.197284	0.357	0.0865	5008	,	,		11945	0.1012		0.0169	False		,,,				2504	0.3446					.											0										1164,3060		143,878,1091	18	26	24		2310	-8.4	0	16	dbSNP_100	24	179,8245		1,177,4034	yes	coding-synonymous	CHTF18	NM_022092.2		144,1055,5125	GG,GA,AA		2.1249,27.5568,10.6183		770/976	845819	1343,11305	2112	4212	6324	SO:0001819	synonymous_variant	63922			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.2310A>G	16.37:g.845819A>G			B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	CCDS45371.1																																																																																				0.687	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		G	845819	A	G	845819	2	3	35	1	0	0	0	0	0	0	0	1	3414	146	6	2		2	CHTF18	16	845819	Silent	SNP	A	TCGA-KN-8419-01A-11D-2310-10	5212	845819	89508934	45	2579											
TAOK2	9344	mdanderson.org	37	chr16	29999225	29999225	+	Missense_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	gctagggccccctgcctcccGccagccactgccagggactc	5	5	11	20	1	0	0	0	0	0	0	2	1	1	1	7	2	3	1	7	2	1	1	rs11864149	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr16:29999225G>A	ENST00000308893.4	+	16	4675	c.3632G>A	c.(3631-3633)cGc>cAc	p.R1211H	TAOK2_ENST00000543033.1_Missense_Mutation_p.R1098H|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.R1038H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1211				R -> H (in Ref. 1; AAD45616). {ECO:0000305}.	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						CCTGCCTCCCGCCAGCCACTG	0.721													G|||	368	0.0734824	0.1604	0.0706	5008	,	,		11363	0.003		0.0835	False		,,,				2504	0.0204					.											0								G	,HIS/ARG	479,3449		22,435,1507	6	7	6		,3632	0.6	0.1	16	dbSNP_120	6	507,7365		18,471,3447	no	intron,missense	TAOK2	NM_004783.2,NM_016151.2	,29	40,906,4954	AA,AG,GG		6.4405,12.1945,8.3559	,possibly-damaging	,1211/1236	29999225	986,10814	1964	3936	5900	SO:0001583	missense	9344			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.3632G>A	16.37:g.29999225G>A	ENSP00000310094:p.Arg1211His		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	174	0.07967032967032966	79	0.16056910569105692	33	0.09116022099447514	1	0.0017482517482517483	61	0.08047493403693931	G	0.054	-1.241336	0.01493	0.121945	0.064405	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.71222	-0.52;-0.55	4.04	0.591	0.17465	.	1.515130	0.04227	N	0.334654	T	0.00271	0.0008	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.02625	-1.1132	8	.	.	.	.	7.7362	0.28815	0.2033:0.1469:0.6498:0.0	rs11864149	1402;1038;1211	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	H	1211;1098	ENSP00000310094:R1211H;ENSP00000440336:R1098H	.	R	+	2	0	TAOK2	29906726	0.000000	0.05858	0.100000	0.21137	0.027000	0.11550	0.386000	0.20702	0.037000	0.15575	-1.119000	0.02030	CGC		0.721	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		A	29999225	G	A	29999225	3	1	35	1	0	0	0	0	1	0	0	0	15545	1087	38	1	3690	1	TAOK2	16	29999225	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	29153406	29999225	60355528	46	2580											
HSF5	124535	broad.mit.edu	37	chr17	56565433	56565434	+	In_Frame_Ins	INS	-	-	CGGCCC																															ggttttgaagagctcgggctINScggccccggcccccgcagtc																								rs550036152	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr17:56565433_56565434insCGGCCC	ENST00000323777.3	-	1	311_312	c.202_203insGGGCCG	c.(202-204)gag>gGGGCCGag	p.67_68insGA		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	67					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGCTCGGGCTcggccccggcc	0.723														23	0.00459265	0.0106	0.0058	5008	,	,		9066	0		0.004	False		,,,				2504	0.001					.											0										14,3682		1,12,1835						3.7	1			10	32,7446		5,22,3712	no	coding	HSF5	NM_001080439.1		6,34,5547	A1A1,A1R,RR		0.4279,0.3788,0.4117				46,11128				SO:0001652	inframe_insertion	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.197_202dupGGGCCG	17.37:g.56565434_56565439dupCGGCCC	ENSP00000313243:p.Gly66_Ala67dup		Q08EH7|Q8N7V2	In_Frame_Ins	INS	ENST00000323777.3	37	CCDS32690.1																																																																																				0.723	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		CGGCCC	56565434	-	CGGCCC	56565433	7	5	35	1	0	1	1	0	0	0	0	0	7399	1551	54	0	1611	0	HSF5	17	56565433	In_Frame_Ins	INS	-	TCGA-KN-8419-01A-11D-2310-10		56565433	24629777	47	2581											
MED13	9969	ucsc.edu;bcgsc.ca	37	chr17	60030379	60030379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagaatgtacaggagAaccagttggagaagcaggaa	15	6	14	6	0	0	3	0	0	0	3	1	7	1	4	2	4	3	3	2	4	5	2			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr17:60030379A>G	ENST00000397786.2	-	27	6140	c.6064T>C	c.(6064-6066)Tct>Cct	p.S2022P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2022					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTACAGGAGAACCAGTTGGA	0.458																																						.											0													125	123	124					17																	60030379		1884	4116	6000	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6064T>C	17.37:g.60030379A>G	ENSP00000380888:p.Ser2022Pro		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373983	0.82573	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83673	-1.75	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.66439	2.03	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.89487	0.3754	10	0.44086	T	0.13	-15.3752	15.4442	0.75216	1.0:0.0:0.0:0.0	.	2022	Q9UHV7	MED13_HUMAN	P	2022;2021	ENSP00000380888:S2022P	ENSP00000262436:S2021P	S	-	1	0	MED13	57385161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.957000	0.93082	2.045000	0.60652	0.460000	0.39030	TCT		0.458	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60030379	A	G	60030379	3	3	35	1	0	0	0	0	1	0	0	0	9430	246	9	4	476	4	MED13	17	60030379	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	3464946	60030379	21164831	48	2582											
DSG1	1828	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	28926018	28926018	+	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	gaggaggagagagaatgacaGgatttgaactaacagaggga	17	5	16	3	0	0	5	0	2	0	3	0	11	0	8	0	4	2	0	0	4	3	2			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr18:28926018G>A	ENST00000257192.4	+	14	2169	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G12R|RP11-534N16.1_ENST00000581856.1_RNA|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	653					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)			GAGAATGACAGGATTTGAACT	0.353																																						.											0													86	85	85					18																	28926018		2203	4300	6503	SO:0001583	missense	1828			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.1957G>A	18.37:g.28926018G>A	ENSP00000257192:p.Gly653Arg		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331856	0.24167	.	.	ENSG00000134760	ENST00000257192	T	0.76186	-1.0	5.95	4.15	0.48705	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000002	T	0.80396	0.4615	L	0.52573	1.65	0.34238	D	0.677296	D	0.76494	0.999	D	0.74348	0.983	D	0.85203	0.1016	10	0.56958	D	0.05	.	10.1071	0.42539	0.073:0.135:0.7921:0.0	.	653	Q02413	DSG1_HUMAN	R	653	ENSP00000257192:G653R	ENSP00000257192:G653R	G	+	1	0	DSG1	27180016	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	2.890000	0.48609	1.521000	0.48983	0.609000	0.83330	GGA		0.353	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28926018	G	A	28926018	3	1	35	1	0	0	0	0	1	0	0	0	4776	1001	35	4	2011	4	DSG1	18	28926018	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		28926018	49151230	49	2583											
ZCCHC2	54877	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	60242420	60242420	+	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	taaatagttactattatcctAatccaatgcctggaccaatg	14	13	5	9	0	0	0	0	0	0	0	2	1	2	1	4	1	2	1	4	1	9	6			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr18:60242420A>T	ENST00000269499.5	+	13	3524	c.3106A>T	c.(3106-3108)Aat>Tat	p.N1036Y	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.N715Y	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1036						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						CTATTATCCTAATCCAATGCC	0.493																																						.											0													74	83	80					18																	60242420		2074	4203	6277	SO:0001583	missense	54877			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.3106A>T	18.37:g.60242420A>T	ENSP00000269499:p.Asn1036Tyr		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581891	0.46006	.	.	ENSG00000141664	ENST00000269499	T	0.25579	1.79	5.29	4.13	0.48395	.	0.292895	0.34200	N	0.004174	T	0.35711	0.0941	L	0.51422	1.61	0.31721	N	0.638306	D	0.53885	0.963	P	0.54401	0.751	T	0.46091	-0.9216	10	0.66056	D	0.02	-7.6496	11.3077	0.49345	0.9282:0.0:0.0718:0.0	.	1036	Q9C0B9	ZCHC2_HUMAN	Y	1036	ENSP00000269499:N1036Y	ENSP00000269499:N1036Y	N	+	1	0	ZCCHC2	58393400	0.015000	0.18098	0.031000	0.17742	0.926000	0.56050	2.296000	0.43584	0.944000	0.37579	0.528000	0.53228	AAT		0.493	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		T	60242420	A	T	60242420	3	4	35	1	0	0	0	0	1	0	0	0	17584	362	13	5	3156	5	ZCCHC2	18	60242420	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	31316402	60242420	17834828	50	2584											
MED16	10025	mdanderson.org	37	chr19	871135	871135	+	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	tgcttgggctgcaggcggctAaccaggccgtcgctggctgg	4	8	17	12	3	0	0	0	0	0	0	1	0	0	0	2	6	3	6	2	6	1	2	rs1683569	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:871135A>G	ENST00000589119.1	-	12	2216	c.2217T>C	c.(2215-2217)gtT>gtC	p.V739V	MED16_ENST00000325464.1_Silent_p.V739V|MED16_ENST00000312090.6_Silent_p.V758V|MED16_ENST00000395808.3_Silent_p.V739V|MED16_ENST00000606828.1_5'Flank|MED16_ENST00000269814.4_Missense_Mutation_p.L675S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	739					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)		GCAGGCGGCTAACCAGGCCGT	0.701													g|||	1326	0.264776	0.5008	0.2205	5008	,	,		12505	0.0317		0.2873	False		,,,				2504	0.1943					.											0										1482,2440		291,900,770	9	11	10		2217	3.1	1	19	dbSNP_89	10	1843,5871		223,1397,2237	no	coding-synonymous	MED16	NM_005481.2		514,2297,3007	GG,GA,AA		23.8916,37.7868,28.5751		739/878	871135	3325,8311	1961	3857	5818	SO:0001819	synonymous_variant	10025			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.2217T>C	19.37:g.871135A>G			Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	CCDS12047.1	567	0.25961538461538464	240	0.4878048780487805	89	0.24585635359116023	20	0.03496503496503497	218	0.287598944591029	g	18.38	3.611665	0.66558	0.377868	0.238916	ENSG00000175221	ENST00000269814	.	.	.	4.13	3.06	0.35304	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.47065	P	6.960000000000299E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.44711	-0.9310	6	0.09590	T	0.72	-40.3568	9.783	0.40660	0.177:0.0:0.823:0.0	rs1683569;rs59662712;rs1683569	675	Q9Y2X0-4	.	S	675	.	ENSP00000269814:L675S	L	-	2	0	MED16	822135	1.000000	0.71417	0.984000	0.44739	0.793000	0.44817	2.176000	0.42500	0.718000	0.32166	-0.258000	0.10820	TTA		0.701	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		G	871135	A	G	871135	2	3	35	1	0	0	0	0	0	0	0	1	9434	349	13	4		4	MED16	19	871135	Silent	SNP	A	TCGA-KN-8419-01A-11D-2310-10		871135	58257848	51	2585											
WDR18	57418	mdanderson.org	37	chr19	984533	984533	+	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	gcggcgcagctgggcaagaaTtacatcagcgcctgggagct	9	6	15	11	3	1	1	1	0	0	1	1	2	1	2	1	3	4	4	1	3	3	1	rs2301810	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:984533T>C	ENST00000251289.5	+	1	203	c.180T>C	c.(178-180)aaT>aaC	p.N60N	WDR18_ENST00000587001.2_Silent_p.N60N|WDR18_ENST00000591997.1_Intron	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	60					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		TGGGCAAGAATTACATCAGCG	0.711													.|||	2246	0.448482	0.4667	0.438	5008	,	,		11366	0.3899		0.5577	False		,,,				2504	0.3793					.											0								C		1857,2351		456,945,703	7	9	9		180	3.3	1	19	dbSNP_100	9	4066,4176		1101,1864,1156	no	coding-synonymous	WDR18	NM_024100.3		1557,2809,1859	CC,CT,TT		49.3327,44.1302,47.5743		60/433	984533	5923,6527	2104	4121	6225	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.180T>C	19.37:g.984533T>C			O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																				0.711	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			C	984533	T	C	984533	2	2	35	1	0	0	0	0	0	0	0	1	17275	1490	52	4		4	WDR18	19	984533	Silent	SNP	T	TCGA-KN-8419-01A-11D-2310-10	113398	984533	58144450	52	2586											
HMHA1	23526	broad.mit.edu;bcgsc.ca	37	chr19	1073206	1073206	+	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	ctgggtgaggctctgcgtgtCatgcatcagatcatctccaa	8	11	11	11	1	5	2	3	1	2	1	6	2	5	2	1	2	2	2	1	2	1	0			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:1073206C>A	ENST00000313093.2	+	3	711	c.480C>A	c.(478-480)gtC>gtA	p.V160V	HMHA1_ENST00000543365.1_Silent_p.V43V|HMHA1_ENST00000536472.1_De_novo_Start_InFrame|HMHA1_ENST00000592335.1_Nonsense_Mutation_p.S41*|HMHA1_ENST00000586866.1_Silent_p.V164V|HMHA1_ENST00000590214.1_Silent_p.V187V|HMHA1_ENST00000539243.2_Silent_p.V176V	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	160					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)		CTCTGCGTGTCATGCATCAGA	0.647																																						.											0													66	64	64					19																	1073206		2203	4300	6503	SO:0001819	synonymous_variant	23526			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.480C>A	19.37:g.1073206C>A			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																				0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1073206	C	A	1073206	2	1	35	1	0	0	0	0	0	0	0	1	7240	813	29	5		5	HMHA1	19	1073206	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	88673	1073206	58055777	53	2587											
PRAM1	84106	mdanderson.org	37	chr19	8564469	8564469	+	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	cttggggaggtcagtgacctCaggcggcgggggcttcaagg	6	7	19	9	2	3	1	3	1	0	0	3	2	3	2	1	8	0	1	1	8	1	2	rs371461475|rs4990821	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:8564469C>G	ENST00000423345.4	-	2	743	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.E75Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	123	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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						TCAGTGACCTCAGGCGGCGGG	0.642													C|||	1814	0.36222	0.6346	0.2968	5008	,	,		12296	0.1587		0.3062	False		,,,				2504	0.3078					.											0													41	53	49					19																	8564469		1849	4082	5931	SO:0001583	missense	84106			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.223G>C	19.37:g.8564469C>G	ENSP00000408342:p.Glu75Gln		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	824	0.3772893772893773	382	0.7764227642276422	110	0.30386740331491713	82	0.14335664335664336	250	0.32981530343007914	c	8.200	0.797994	0.16327	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14144	2.53;2.53	3.74	-1.55	0.08558	.	2.531360	0.02280	N	0.069320	T	0.00012	0.0000	L	0.41824	1.3	0.80722	P	0.0	B;B	0.33940	0.433;0.433	B;B	0.27887	0.084;0.084	T	0.36065	-0.9763	9	0.24483	T	0.36	.	6.2323	0.20742	0.0:0.3333:0.4737:0.193	rs4990821	75;123	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	Q	75	ENSP00000255612:E75Q;ENSP00000408342:E75Q	ENSP00000255612:E75Q	E	-	1	0	PRAM1	8470469	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.203000	0.09438	-0.252000	0.09528	-0.187000	0.12897	GAG		0.642	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		G	8564469	C	G	8564469	3	3	35	1	0	0	0	0	1	0	0	0	12423	835	29	5	1822	5	PRAM1	19	8564469	Missense_Mutation	SNP	C	TCGA-KN-8419-01A-11D-2310-10	7491263	8564469	50564514	54	2588											
MUC16	94025	mdanderson.org	37	chr19	8999449	8999449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctcagtgatgctgtGggtcagctggctcagctccc	5	9	13	14	0	3	1	3	1	0	0	4	1	4	1	2	2	4	5	2	2	0	0	rs76798407	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:8999449G>T	ENST00000397910.4	-	56	40929	c.40726C>A	c.(40726-40728)Cac>Aac	p.H13576N	MUC16_ENST00000380951.5_Missense_Mutation_p.H217N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13578	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCTGTGGGTCAGCTGG	0.572																																						.											0													227	190	202					19																	8999449		2053	4200	6253	SO:0001583	missense	94025			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.40726C>A	19.37:g.8999449G>T	ENSP00000381008:p.His13576Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.590	-0.295337	0.05532	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.35605	1.3;1.3	2.95	1.87	0.25490	SEA (2);	.	.	.	.	T	0.35158	0.0922	L	0.31752	0.955	.	.	.	P;P	0.44281	0.458;0.831	B;P	0.54664	0.192;0.758	T	0.39482	-0.9612	8	0.23891	T	0.37	.	7.1711	0.25719	0.0:0.0:0.7333:0.2667	.	21221;13576	Q8WXI7;B5ME49	MUC16_HUMAN;.	N	13576;217	ENSP00000381008:H13576N;ENSP00000370338:H217N	ENSP00000370338:H217N	H	-	1	0	MUC16	8860449	0.000000	0.05858	0.319000	0.25293	0.150000	0.21749	-0.331000	0.07914	0.784000	0.33661	0.555000	0.69702	CAC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8999449	G	T	8999449	3	4	35	1	0	0	0	0	1	0	0	0	9973	1348	47	5	2913	5	MUC16	19	8999449	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10	434980	8999449	50129534	55	2589			3	23		3	3	6157	N	T_G_A	8.029039e-05
MUC16	94025	mdanderson.org	37	chr19	8999478	8999478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctcccagtatagcTgctctctgtccagtccaggg	6	10	11	14	0	2	0	1	0	1	0	6	0	5	0	3	2	3	5	3	2	2	2	rs73493659	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:8999478T>C	ENST00000397910.4	-	56	40900	c.40697A>G	c.(40696-40698)cAg>cGg	p.Q13566R	MUC16_ENST00000380951.5_Missense_Mutation_p.Q207R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13568	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTATAGCTGCTCTCTGTC	0.587																																						.											0													176	148	157					19																	8999478		2001	4182	6183	SO:0001583	missense	94025			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.40697A>G	19.37:g.8999478T>C	ENSP00000381008:p.Gln13566Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.200|0.200	-1.045174|-1.045174	0.01997|0.01997	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.29397|.	1.57;1.57|.	3.48|3.48	-4.27|-4.27	0.03744|0.03744	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.46464|0.46464	0.1394|0.1394	L|L	0.42245|0.42245	1.32|1.32	.|.	.|.	.|.	B;P|.	0.39576|.	0.001;0.679|.	B;P|.	0.51101|.	0.002;0.659|.	T|T	0.52290|0.52290	-0.8595|-0.8595	8|4	0.11485|.	T|.	0.65|.	-0.0012|-0.0012	11.6309|11.6309	0.51173|0.51173	0.0:0.6859:0.0:0.3141|0.0:0.6859:0.0:0.3141	.|.	21211;13566|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|G	13566;207|406	ENSP00000381008:Q13566R;ENSP00000370338:Q207R|.	ENSP00000370338:Q207R|.	Q|S	-|-	2|1	0|0	MUC16|MUC16	8860478|8860478	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.063000|0.063000	0.16089|0.16089	-2.569000|-2.569000	0.00915|0.00915	-1.289000|-1.289000	0.02375|0.02375	0.454000|0.454000	0.30748|0.30748	CAG|AGC		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8999478	T	C	8999478	3	2	35	1	0	0	0	0	1	0	0	0	9973	1580	55	2	2942	2	MUC16	19	8999478	Missense_Mutation	SNP	T	TCGA-KN-8419-01A-11D-2310-10	29	8999478	50129505	56	2590			3	23		3	3	6157	N	T_G_A	8.029039e-05
MUC16	94025	mdanderson.org	37	chr19	9005605	9005605	+	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	agggtgtagggtcccagctcAgtgatgctgtgggtcagctg	6	10	17	8	0	2	1	2	1	0	0	3	1	3	1	1	3	3	4	1	3	1	1	rs74835716		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:9005605A>T	ENST00000397910.4	-	46	40004	c.39801T>A	c.(39799-39801)acT>acA	p.T13267T	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13269	SEA 8. {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						GTCCCAGCTCAGTGATGCTGT	0.567																																						.											0													175	158	164					19																	9005605		2043	4185	6228	SO:0001819	synonymous_variant	94025			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.39801T>A	19.37:g.9005605A>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.366	-0.129417	0.06753	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.51	-5.81	0.02340	.	.	.	.	.	T	0.11965	0.0291	.	.	.	.	.	.	.	.	.	.	.	.	T	0.27297	-1.0078	3	.	.	.	-11.8867	0.269	0.00229	0.2614:0.1578:0.3056:0.2752	.	.	.	.	Q	107	.	.	L	-	2	0	MUC16	8866605	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.577000	0.05847	-1.052000	0.03222	-2.889000	0.00095	CTG		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9005605	A	T	9005605	2	4	35	1	0	0	0	0	0	0	0	1	9973	175	7	5		5	MUC16	19	9005605	Silent	SNP	A	TCGA-KN-8419-01A-11D-2310-10	6127	9005605	50123378	57	2591			3	23		3	3	6157	N	T_G_A	8.029039e-05
NLRP9	338321	ucsc.edu;bcgsc.ca	37	chr19	56241255	56241255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaaagaatcgccagggAgggatcatcaaggctggtat	12	9	13	7	1	2	1	2	0	0	1	3	3	2	3	1	4	1	3	1	4	4	2			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr19:56241255A>G	ENST00000332836.2	-	3	1963	c.1936T>C	c.(1936-1938)Tcc>Ccc	p.S646P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	646						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)		ATCGCCAGGGAGGGATCATCA	0.438																																						.											0													96	95	96					19																	56241255		2203	4300	6503	SO:0001583	missense	338321			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.1936T>C	19.37:g.56241255A>G	ENSP00000331857:p.Ser646Pro		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	a	13.31	2.199816	0.38905	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.54675	0.56	3.4	1.22	0.21188	.	.	.	.	.	T	0.59595	0.2205	M	0.75264	2.295	0.09310	N	1	P	0.52692	0.955	P	0.55871	0.786	T	0.48222	-0.9054	9	0.42905	T	0.14	.	3.3706	0.07219	0.6306:0.2404:0.129:0.0	.	646	Q7RTR0	NALP9_HUMAN	P	646	ENSP00000331857:S646P	ENSP00000331857:S646P	S	-	1	0	NLRP9	60933067	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.706000	0.25690	0.205000	0.20568	0.514000	0.50259	TCC		0.438	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		G	56241255	A	G	56241255	3	3	35	1	0	0	0	0	1	0	0	0	10484	304	11	2	1067	2	NLRP9	19	56241255	Missense_Mutation	SNP	A	TCGA-KN-8419-01A-11D-2310-10	47235650	56241255	2887728	58	2592											
ZNF831	128611	mdanderson.org	37	chr20	57767041	57767041	+	Missense_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	agcggcagcaggcgacggcaGcggagaagccctgggatgcc	9	2	18	12	4	0	1	0	0	0	1	0	4	0	2	2	5	5	3	2	5	1	0	rs564350771		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr20:57767041G>A	ENST00000371030.2	+	1	967	c.967G>A	c.(967-969)Gcg>Acg	p.A323T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	323							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)					GGCGACGGCAGCGGAGAAGCC	0.716													.|||	1	0.000199681	8e-04	0	5008	,	,		11993	0		0	False		,,,				2504	0					.											0													11	14	13					20																	57767041		1658	3888	5546	SO:0001583	missense	128611			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.967G>A	20.37:g.57767041G>A	ENSP00000360069:p.Ala323Thr		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	5.466	0.271092	0.10349	.	.	ENSG00000124203	ENST00000371030	T	0.04234	3.67	5.19	-3.85	0.04243	.	.	.	.	.	T	0.03390	0.0098	L	0.36672	1.1	0.09310	N	1	B	0.18863	0.031	B	0.09377	0.004	T	0.43718	-0.9374	9	0.30078	T	0.28	0.0026	4.3551	0.11174	0.1062:0.1416:0.505:0.2472	.	323	Q5JPB2	ZN831_HUMAN	T	323	ENSP00000360069:A323T	ENSP00000360069:A323T	A	+	1	0	ZNF831	57200436	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.627000	0.05589	-0.293000	0.09583	GCG		0.716	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57767041	G	A	57767041	3	1	35	1	0	0	0	0	1	0	0	0	18182	971	34	4	969	4	ZNF831	20	57767041	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		57767041	5258479	59	2593											
KRTAP10-1	386677	mdanderson.org	37	chr21	45959195	45959195	+	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	agcagaggcctcagcaggccGggcgggagcacgcggggcgg	7	1	21	12	5	1	1	1	0	0	1	1	2	1	2	2	7	3	3	2	7	0	0	rs233316	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr21:45959195G>A	ENST00000400375.1	-	1	883	c.839C>T	c.(838-840)cCg>cTg	p.P280L	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	280			P -> L (in dbSNP:rs233316). {ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						TCAGCAGGCCGGGCGGGAGCA	0.721													G|||	3114	0.621805	0.7519	0.6081	5008	,	,		14955	0.4861		0.6531	False		,,,				2504	0.5634					.											0								G	LEU/PRO,	3137,1143		1169,799,172	16	21	19		839,	-1.1	0	21	dbSNP_79	19	5643,2789		1911,1821,484	no	missense,intron	TSPEAR,KRTAP10-1	NM_198691.2,NM_144991.2	98,	3080,2620,656	AA,AG,GG		33.0764,26.7056,30.9314	probably-damaging,	280/283,	45959195	8780,3932	2140	4216	6356	SO:0001583	missense	386677			AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.839C>T	21.37:g.45959195G>A	ENSP00000383226:p.Pro280Leu		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	CCDS42954.1	1309	0.5993589743589743	333	0.676829268292683	238	0.6574585635359116	276	0.4825174825174825	462	0.6094986807387863	a	0.384	-0.927214	0.02377	0.732944	0.669236	ENSG00000215455	ENST00000400375	T	0.00816	5.66	3.28	-1.15	0.09709	.	.	.	.	.	T	0.00012	0.0000	L	0.42581	1.335	0.80722	P	0.0	D	0.54047	0.964	B	0.42522	0.39	T	0.02901	-1.1096	8	0.33141	T	0.24	.	4.1151	0.10077	0.2988:0.0:0.5346:0.1666	rs233316	280	P60331	KR101_HUMAN	L	280	ENSP00000383226:P280L	ENSP00000383226:P280L	P	-	2	0	KRTAP10-1	44783623	0.001000	0.12720	0.000000	0.03702	0.056000	0.15407	-0.233000	0.09041	-0.403000	0.07622	-0.186000	0.12905	CCG		0.721	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			A	45959195	G	A	45959195	3	1	35	1	0	0	0	0	1	0	0	0	8505	1116	39	1	13	1	KRTAP10-1	21	45959195	Missense_Mutation	SNP	G	TCGA-KN-8419-01A-11D-2310-10		45959195	2170700	60	2594											
PI4KA	5297	mdanderson.org	37	chr22	21088357	21088357	+	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	cggggcccgatggccgccacGtgccggttcatgctcccctt	3	8	13	17	5	1	0	1	0	0	0	2	1	2	0	6	4	2	2	6	4	0	2			TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr22:21088357G>A	ENST00000572273.1	-	34	4082	c.3852C>T	c.(3850-3852)caC>caT	p.H1284H	PI4KA_ENST00000255882.6_Silent_p.H1342H|PI4KA_ENST00000414196.3_Silent_p.H94H			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1284					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGCCGCCACGTGCCGGTTCA	0.637																																					GBM(136;1332 1831 3115 23601 50806)	.											0													21	19	19					22																	21088357		2198	4289	6487	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3852C>T	22.37:g.21088357G>A			Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.637	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21088357	G	A	21088357	2	1	35	1	0	0	0	0	0	0	0	1	11873	1136	40	1		1	PI4KA	22	21088357	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10		21088357	30216209	61	2595											
OSBP2	23762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	31266429	31266429	+	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	tccacagatgactctggggaCgacgacgaggctaccacccc	10	5	11	15	3	1	2	0	1	1	1	2	6	2	3	4	3	1	1	4	3	1	1	rs376288614		TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr22:31266429C>T	ENST00000332585.6	+	3	971	c.867C>T	c.(865-867)gaC>gaT	p.D289D	OSBP2_ENST00000437268.2_Silent_p.D31D|OSBP2_ENST00000403222.3_Silent_p.D124D|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.D289D|OSBP2_ENST00000382310.3_Silent_p.D289D|OSBP2_ENST00000407373.1_Silent_p.D116D	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	289					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						ACTCTGGGGACGACGACGAGG	0.557																																						.											0								C		1,4199		0,1,2099	63	65	65		867	-0.7	1	22		65	1,8441		0,1,4220	no	coding-synonymous	OSBP2	NM_030758.3		0,2,6319	TT,TC,CC		0.0118,0.0238,0.0158		289/917	31266429	2,12640	2100	4221	6321	SO:0001819	synonymous_variant	23762				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.867C>T	22.37:g.31266429C>T			B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	CCDS43002.1																																																																																				0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		T	31266429	C	T	31266429	2	4	35	1	0	0	0	0	0	0	0	1	11274	535	19	1		1	OSBP2	22	31266429	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	10178072	31266429	20038137	62	2596											
SSTR3	6753	hgsc.bcm.edu	37	chr22	37603327	37603327	+	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	accacgggcagcaccaccacGgctgaggccacccacacagc	11	1	10	19	2	0	1	0	1	0	0	0	1	0	1	5	3	2	3	5	3	0	0	rs141903633	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr22:37603327G>A	ENST00000328544.3	-	2	1049	c.516C>T	c.(514-516)gcC>gcT	p.A172A	SSTR3_ENST00000402501.1_Silent_p.A172A	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	172					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)	GCACCACCACGGCTGAGGCCA	0.741													G|||	15	0.00299521	0.0106	0	5008	,	,		13508	0.001		0	False		,,,				2504	0					.											0								G		33,4367		0,33,2167	24	26	25		516	-11.3	0.1	22	dbSNP_134	25	1,8571		0,1,4285	no	coding-synonymous	SSTR3	NM_001051.2		0,34,6452	AA,AG,GG		0.0117,0.75,0.2621		172/419	37603327	34,12938	2200	4286	6486	SO:0001819	synonymous_variant	6753				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.516C>T	22.37:g.37603327G>A			A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	CCDS13944.1																																																																																				0.741	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			A	37603327	G	A	37603327	2	1	35	1	0	0	0	0	0	0	0	1	15198	1103	39	1		1	SSTR3	22	37603327	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10	6336898	37603327	13701239	63	2597											
TYMP	1890	mdanderson.org	37	chr22	50965102	50965102	+	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	gcgtggcccacgcagcgaccCaggggcttgtccatggcggt	5	6	16	14	4	0	0	0	0	0	0	1	1	1	0	3	5	1	2	3	5	0	1	rs8141558	byFrequency	TCGA-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	g.chr22:50965102C>T	ENST00000252029.3	-	7	993	c.831G>A	c.(829-831)ctG>ctA	p.L277L	TYMP_ENST00000395678.3_Silent_p.L277L|SCO2_ENST00000252785.3_5'Flank|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395680.1_Silent_p.L277L|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_5'Flank|TYMP_ENST00000395681.1_Silent_p.L277L|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	277					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)	CGCAGCGACCCAGGGGCTTGT	0.711													C|||	177	0.0353435	0.1256	0.0159	5008	,	,		12653	0		0	False		,,,				2504	0					.											0								C	,,	381,3875		17,347,1764	8	8	8		831,831,831	4.6	0.7	22	dbSNP_116	8	10,8426		0,10,4208	no	coding-synonymous,coding-synonymous,coding-synonymous	TYMP	NM_001113755.1,NM_001113756.1,NM_001953.3	,,	17,357,5972	TT,TC,CC		0.1185,8.9521,3.0807	,,	277/483,277/483,277/483	50965102	391,12301	2128	4218	6346	SO:0001819	synonymous_variant	1890			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.831G>A	22.37:g.50965102C>T			A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	CCDS14096.1																																																																																				0.711	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		T	50965102	C	T	50965102	2	4	35	1	0	0	0	0	0	0	0	1	16808	581	21	4		4	TYMP	22	50965102	Silent	SNP	C	TCGA-KN-8419-01A-11D-2310-10	13361775	50965102	339464	64	2598											
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-KN-8419-01A-11D-2310-10	TCGA-KN-8419-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a592e80a-3b1a-46aa-be30-bcd87d6bca6f	04adced3-96c5-4ec2-8e06-293544f0c3d7	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																																					NSCLC(90;1817 2035 37909 38249)	.											8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)											52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685			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			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	35	1	0	0	0	0	0	0	0	1	10726	991	35	4		4	NUDT10	23	51076024	Silent	SNP	G	TCGA-KN-8419-01A-11D-2310-10		51076024	104194536	65	2599											
HCRTR1	3061	ucsc.edu	37	chr1	32085198	32085198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacttcattgtcaacctgTccctggctgacgttctggtg	6	14	9	12	1	3	1	2	1	1	0	4	1	4	1	2	2	2	2	2	2	2	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr1:32085198T>C	ENST00000373706.5	+	2	418	c.265T>C	c.(265-267)Tcc>Ccc	p.S89P	HCRTR1_ENST00000373705.1_Missense_Mutation_p.S89P|HCRTR1_ENST00000403528.2_Missense_Mutation_p.S89P|HCRTR1_ENST00000468521.1_Intron			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	89					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGTCAACCTGTCCCTGGCTGA	0.602																																						.											0													140	99	113					1																	32085198		2203	4299	6502	SO:0001583	missense	3061			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.265T>C	1.37:g.32085198T>C	ENSP00000362810:p.Ser89Pro		A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	CCDS344.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124151	0.77436	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.12255	2.7;2.7;2.7	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.89840	3.065	0.45129	D	0.998146	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.98	T	0.52786	-0.8529	10	0.87932	D	0	.	12.31	0.54924	0.0:0.0:0.0:1.0	.	89;89	A6NMV7;O43613	.;OX1R_HUMAN	P	89	ENSP00000384387:S89P;ENSP00000362810:S89P;ENSP00000362809:S89P	ENSP00000362809:S89P	S	+	1	0	HCRTR1	31857785	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.645000	0.83430	1.931000	0.55961	0.533000	0.62120	TCC		0.602	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		C	32085198	T	C	32085198	3	2	36	1	0	0	0	0	1	0	0	0	7001	1667	58	2	271	2	HCRTR1	1	32085198	Missense_Mutation	SNP	T	TCGA-KN-8421-01A-11D-2310-10		32085198	217165423	1	2600											
ZC3H12A	80149	ucsc.edu;bcgsc.ca	37	chr1	37947246	37947246	+	Missense_Mutation	SNP	T	T	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	agaagaagaagatcctggtgTtcacaccatcacgacgcgtg	13	7	11	10	3	2	4	2	0	0	4	3	5	3	4	2	1	0	1	2	1	3	1			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr1:37947246T>C	ENST00000373087.6	+	4	744	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCCTGGTGTTCACACCATC	0.592																																						.											0													236	213	221					1																	37947246		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.628T>C	1.37:g.37947246T>C	ENSP00000362179:p.Phe210Leu			Missense_Mutation	SNP	ENST00000373087.6	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	T	35	5.467320	0.96257	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.39787	1.06	5.42	5.42	0.78866	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.61703	1.905	0.80722	D	1	P	0.49447	0.924	P	0.61397	0.888	T	0.60005	-0.7347	10	0.48119	T	0.1	-30.0237	15.4665	0.75406	0.0:0.0:0.0:1.0	.	210	Q5D1E8	ZC12A_HUMAN	L	210	ENSP00000362179:F210L	ENSP00000362174:F210L	F	+	1	0	ZC3H12A	37719833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.991000	0.88244	2.054000	0.61138	0.459000	0.35465	TTC		0.592	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		C	37947246	T	C	37947246	3	2	36	1	0	0	0	0	1	0	0	0	17558	1725	60	2	638	2	ZC3H12A	1	37947246	Missense_Mutation	SNP	T	TCGA-KN-8421-01A-11D-2310-10	5862048	37947246	211303375	2	2601											
DNASE2B	58511	broad.mit.edu;mdanderson.org	37	chr1	84876612	84876612	+	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	gaagaaggctatgattatccAcccacagggagacgaaatgg	15	6	12	8	1	0	3	0	1	0	2	1	6	1	3	2	3	0	1	2	3	5	2			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr1:84876612A>T	ENST00000370665.3	+	4	510	c.477A>T	c.(475-477)ccA>ccT	p.P159P	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	159					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)		ATGATTATCCACCCACAGGGA	0.428																																					Pancreas(54;788 1175 11852 16034 30034)	.											0													89	83	85					1																	84876612		1904	4127	6031	SO:0001819	synonymous_variant	58511			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.477A>T	1.37:g.84876612A>T			Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	CCDS44167.1																																																																																				0.428	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		T	84876612	A	T	84876612	2	4	36	1	0	0	0	0	0	0	0	1	4665	146	6	5		5	DNASE2B	1	84876612	Silent	SNP	A	TCGA-KN-8421-01A-11D-2310-10	46929366	84876612	164374009	3	2602											
STX6	10228	hgsc.bcm.edu;ucsc.edu	37	chr1	180945772	180945772	+	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	aggatggctatggcacaccaTtggcgccgatctggaaggca	10	7	14	10	2	1	0	0	0	1	0	1	3	1	2	2	6	0	3	2	6	2	2			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr1:180945772T>C	ENST00000258301.5	-	8	939	c.702A>G	c.(700-702)caA>caG	p.Q234Q	RP11-46A10.5_ENST00000358073.2_RNA|STX6_ENST00000542060.1_Silent_p.Q133Q|STX6_ENST00000469135.1_5'UTR|AL162431.1_ENST00000457152.2_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	234					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TGGCACACCATTGGCGCCGAT	0.532																																						.											0													149	119	129					1																	180945772		2203	4300	6503	SO:0001819	synonymous_variant	10228			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.702A>G	1.37:g.180945772T>C			B2R652|B4DR17|Q5VY08|Q6FH83	Silent	SNP	ENST00000258301.5	37	CCDS1341.1																																																																																				0.532	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085143.1	NM_005819		C	180945772	T	C	180945772	2	2	36	1	0	0	0	0	0	0	0	1	15348	1490	52	4		4	STX6	1	180945772	Silent	SNP	T	TCGA-KN-8421-01A-11D-2310-10	96069160	180945772	68304849	4	2603											
PRKD3	23683	broad.mit.edu	37	chr2	37483813	37483813	+	Frame_Shift_Del	DEL	G	G	-																															ttttttttttaccttcaccaGaaatttctctccatggattt																										TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:37483813delG	ENST00000379066.1	-	17	3167	c.2405delC	c.(2404-2406)tctfs	p.S802fs	PRKD3_ENST00000234179.2_Frame_Shift_Del_p.S802fs			O94806	KPCD3_HUMAN	protein kinase D3	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACCTTCACCAGAAATTTCTCT	0.323																																					Melanoma(80;621 1355 8613 11814 51767)	.											0													56	54	54					2																	37483813		2203	4300	6503	SO:0001589	frameshift_variant	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2405delC	2.37:g.37483813delG	ENSP00000368356:p.Ser802fs		D6W587|Q53TR7|Q8NEL8	Frame_Shift_Del	DEL	ENST00000379066.1	37	CCDS1789.1																																																																																				0.323	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		-	37483813	G	-	37483813	7	5	36	1	0	1	0	1	0	0	0	0	12520	942	33	0	279	0	PRKD3	2	37483813	Frame_Shift_Del	DEL	G	TCGA-KN-8421-01A-11D-2310-10		37483813	205715560	5	2604											
CCDC85A	114800	broad.mit.edu;mdanderson.org	37	chr2	56420144	56420144	+	Missense_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	agcctgtggaaccccagatcGccccaaagcactcaaaggac	13	4	9	15	1	1	1	1	0	0	1	2	3	1	3	5	2	3	1	5	2	3	0			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:56420144G>A	ENST00000407595.2	+	2	1311	c.809G>A	c.(808-810)cGc>cAc	p.R270H	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	270	His-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)			ACCCCAGATCGCCCCAAAGCA	0.652																																						.											0													42	56	52					2																	56420144		1996	4190	6186	SO:0001583	missense	114800			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.809G>A	2.37:g.56420144G>A	ENSP00000384040:p.Arg270His			Missense_Mutation	SNP	ENST00000407595.2	37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	2.918	-0.223868	0.06061	.	.	ENSG00000055813	ENST00000407595	T	0.45668	0.89	5.35	3.0	0.34707	.	0.137823	0.64402	N	0.000003	T	0.13329	0.0323	N	0.01209	-0.955	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09335	-1.0679	10	0.08599	T	0.76	-6.8881	9.1145	0.36748	0.8509:0.0:0.1491:0.0	.	270	Q96PX6	CC85A_HUMAN	H	270	ENSP00000384040:R270H	ENSP00000384040:R270H	R	+	2	0	CCDC85A	56273648	0.999000	0.42202	0.998000	0.56505	0.944000	0.59088	1.851000	0.39338	0.881000	0.35993	-0.312000	0.09012	CGC		0.652	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			A	56420144	G	A	56420144	3	1	36	1	0	0	0	0	1	0	0	0	2859	1087	38	1	815	1	CCDC85A	2	56420144	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	18936331	56420144	186779229	6	2605											
RAB11FIP5	26056	mdanderson.org	37	chr2	73316240	73316240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctatggcgctgcttgggAggatggcagaggcagattcc	7	9	15	10	1	1	2	0	0	1	2	2	4	2	4	2	5	1	4	2	5	1	3			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:73316240A>G	ENST00000258098.6	-	2	875	c.635T>C	c.(634-636)cTc>cCc	p.L212P	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	212					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCTGCTTGGGAGGATGGCAGA	0.557																																						.											0													176	166	170					2																	73316240		2203	4300	6503	SO:0001583	missense	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.635T>C	2.37:g.73316240A>G	ENSP00000258098:p.Leu212Pro		O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551239	0.65311	.	.	ENSG00000135631	ENST00000258098	T	0.33865	1.39	4.77	3.62	0.41486	.	0.190105	0.37304	N	0.002149	T	0.42063	0.1186	L	0.39898	1.24	0.58432	D	0.999999	D;D	0.63880	0.989;0.993	P;P	0.59288	0.726;0.855	T	0.14952	-1.0454	10	0.38643	T	0.18	-20.2281	9.4493	0.38717	0.9148:0.0:0.0852:0.0	.	212;212	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	P	212	ENSP00000258098:L212P	ENSP00000258098:L212P	L	-	2	0	RAB11FIP5	73169748	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.139000	0.94554	0.976000	0.38417	0.459000	0.35465	CTC		0.557	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		G	73316240	A	G	73316240	3	3	36	1	0	0	0	0	1	0	0	0	12897	304	11	2	1342	2	RAB11FIP5	2	73316240	Missense_Mutation	SNP	A	TCGA-KN-8421-01A-11D-2310-10	16896096	73316240	169883133	7	2606											
R3HDM1	23518	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	136473266	136473266	+	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	ccttttgtccccgggcaaggTaagtgcacatgaaactagtc	10	10	10	11	1	0	1	0	1	0	0	2	1	1	1	3	2	2	3	3	2	4	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:136473266T>A	ENST00000264160.4	+	23	3146		c.e23+2		R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGGCAAGGTAAGTGCACAT	0.443																																						.											0													138	120	126					2																	136473266		2203	4300	6503	SO:0001630	splice_region_variant	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2776+2T>A	2.37:g.136473266T>A			A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Splice_Site	SNP	ENST00000264160.4	37	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355569	0.61293	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606;ENST00000429703	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.352	0.74396	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	R3HDM1	136189736	1.000000	0.71417	0.998000	0.56505	0.483000	0.33249	7.603000	0.82811	2.026000	0.59711	0.379000	0.24179	.		0.443	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361	Intron	A	136473266	T	A	136473266	5	1	36	1	0	0	0	0	0	0	1	0	12887	1652	57	5	2860	5	R3HDM1	2	136473266	Splice_Site	SNP	T	TCGA-KN-8421-01A-11D-2310-10	63157026	136473266	106726107	8	2607											
PRPF40A	151188	hgsc.bcm.edu;ucsc.edu	37	chr2	153573942	153573942	+	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	ctgctccgccggcggccactGccgctacacataccaacaag	9	5	9	18	4	0	0	0	0	0	0	1	0	1	0	5	2	5	2	5	2	4	2			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:153573942G>A	ENST00000326446.5	+	0	0				PRPF40A_ENST00000486100.1_5'UTR|PRPF40A_ENST00000410080.1_Silent_p.G4G	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						GGCGGCCACTGCCGCTACACA	0.652																																						.											0													33	40	38					2																	153573942		1956	4148	6104	SO:0001631	upstream_gene_variant	55660			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.153573942G>A	Exception_encountered		B2RDS6|Q7Z4G7	Silent	SNP	ENST00000326446.5	37	CCDS2197.1																																																																																				0.652	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		A	153573942	G	A	153573942	1	1	36	0	1	0	0	0	0	0	0	0	12571	1306	46	4		4	PRPF40A	2	153573942	5'Flank	SNP	G	TCGA-KN-8421-01A-11D-2310-10	17100676	153573942	89625431	9	2608											
SCN3A	6328	broad.mit.edu;mdanderson.org	37	chr2	165987817	165987817	+	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	agaccaagctccattaaactGaggctgacaataattccatc	15	9	6	11	0	0	3	0	2	0	1	3	3	2	3	3	1	2	2	3	1	5	3			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:165987817G>T	ENST00000360093.3	-	16	2993	c.2502C>A	c.(2500-2502)ctC>ctA	p.L834L	SCN3A_ENST00000283254.7_Silent_p.L834L|SCN3A_ENST00000409101.3_Silent_p.L785L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	834					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATTAAACTGAGGCTGACAA	0.403																																						.											0													115	113	114					2																	165987817		2203	4300	6503	SO:0001819	synonymous_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2502C>A	2.37:g.165987817G>T			Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		T	165987817	G	T	165987817	2	4	36	1	0	0	0	0	0	0	0	1	13918	1277	45	5		5	SCN3A	2	165987817	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	12413875	165987817	77211556	10	2609											
FASTKD1	79675	bcgsc.ca	37	chr2	170393737	170393737	+	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	taacctacccaataacttacCtactttgtggtaataaggcg	13	12	6	10	1	0	0	0	0	0	0	0	0	0	0	3	2	5	1	3	2	8	8	rs139576803		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:170393737C>T	ENST00000453153.2	-	12	2534	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N	FASTKD1_ENST00000453929.2_Splice_Site_p.D687N|FASTKD1_ENST00000495505.1_Intron	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	730					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						AATAACTTACCTACTTTGTGG	0.313																																						.											0																																										SO:0001630	splice_region_variant	79675			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.2188+1G>A	2.37:g.170393737C>T			Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349299	0.82132	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.78126	-1.15;-1.15	5.63	3.78	0.43462	FAST kinase-like protein, subdomain 2 (1);	0.177498	0.64402	D	0.000013	D	0.87111	0.6096	M	0.82716	2.605	0.58432	D	0.99999	D;D	0.71674	0.997;0.998	D;D	0.68353	0.928;0.957	D	0.87499	0.2432	10	0.72032	D	0.01	-0.4604	11.836	0.52323	0.1385:0.7284:0.133:0.0	.	687;730	Q53R41-2;Q53R41	.;FAKD1_HUMAN	N	730;687	ENSP00000400513:D730N;ENSP00000403229:D687N	ENSP00000400513:D730N	D	-	1	0	FASTKD1	170101983	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	4.060000	0.57477	0.697000	0.31718	0.491000	0.48974	GAT		0.313	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	Missense_Mutation	T	170393737	C	T	170393737	5	4	36	1	0	0	0	0	0	0	1	0	5685	695	24	4	371	4	FASTKD1	2	170393737	Splice_Site	SNP	C	TCGA-KN-8421-01A-11D-2310-10	4405920	170393737	72805636	11	2610											
TTN	7273	broad.mit.edu	37	chr2	179401232	179401232	+	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	cctccatcactggcaggtggCttccaggccacaacacaaga	11	6	9	15	0	1	1	1	0	0	1	3	1	3	1	4	4	1	2	4	4	2	1			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr2:179401232C>T	ENST00000591111.1	-	307	95543	c.95319G>A	c.(95317-95319)aaG>aaA	p.K31773K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.K24541K|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Silent_p.K30846K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Silent_p.K33414K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K24474K|TTN_ENST00000460472.2_Silent_p.K24349K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31773	Fibronectin type-III 131. {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)			TGGCAGGTGGCTTCCAGGCCA	0.403																																						.											0													68	67	67					2																	179401232		1840	4101	5941	SO:0001819	synonymous_variant	7273			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.95319G>A	2.37:g.179401232C>T			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																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179401232	C	T	179401232	2	4	36	1	0	0	0	0	0	0	0	1	16732	796	28	4		4	TTN	2	179401232	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	9007495	179401232	63798141	12	2611											
WDR52	55779	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	113114596	113114596	+	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	agacaaataataatgacttaCatgagacatgggagaccaca	19	7	8	7	0	0	4	0	2	0	3	0	6	0	4	1	1	1	0	1	1	4	3			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr3:113114596C>T	ENST00000295868.2	-	15	2053		c.e15+1		WDR52_ENST00000393845.2_Splice_Site|WDR52_ENST00000475568.1_Splice_Site	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						TAATGACTTACATGAGACATG	0.358																																						.											0													116	110	112					3																	113114596		2203	4300	6503	SO:0001630	splice_region_variant	55779																														ENST00000295868.2:c.1890+1G>A	3.37:g.113114596C>T				Splice_Site	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988779	0.53934	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5256	0.90971	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR52	114597286	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.419000	0.73345	2.719000	0.93026	0.650000	0.86243	.		0.358	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		Intron	T	113114596	C	T	113114596	5	4	36	1	0	0	0	0	0	0	1	0	17301	492	17	4	3772	4	WDR52	3	113114596	Splice_Site	SNP	C	TCGA-KN-8421-01A-11D-2310-10		113114596	84907834	13	2612											
TLR1	7096	hgsc.bcm.edu	37	chr4	38798159	38798159	+	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	agttagcccaaaaaaggccaCgtttgctcttttccttgggc	9	12	9	11	1	1	0	0	0	1	0	2	0	2	0	3	2	2	3	3	2	4	5			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr4:38798159C>T	ENST00000502213.2	-	3	2523	c.2294G>A	c.(2293-2295)cGt>cAt	p.R765H	TLR1_ENST00000308979.2_Missense_Mutation_p.R765H|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	765	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)	p.R765H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAAAGGCCACGTTTGCTCTT	0.423																																					GBM(5;216 373 40795 46382)	.											1	Substitution - Missense(1)	lung(1)											93	87	89					4																	38798159		2203	4300	6503	SO:0001583	missense	7096			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.2294G>A	4.37:g.38798159C>T	ENSP00000421259:p.Arg765His		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.890829	0.00527	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	D;D	0.83419	-1.72;-1.72	5.1	1.3	0.21679	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.370723	0.25369	N	0.031163	T	0.61362	0.2341	N	0.12831	0.26	0.31308	N	0.687515	B	0.02656	0.0	B	0.01281	0.0	T	0.53129	-0.8482	10	0.02654	T	1	.	9.444	0.38686	0.0:0.2814:0.0:0.7186	.	765	Q15399	TLR1_HUMAN	H	765	ENSP00000354932:R765H;ENSP00000421259:R765H	ENSP00000354932:R765H	R	-	2	0	TLR1	38474554	0.768000	0.28519	0.998000	0.56505	0.163000	0.22366	1.128000	0.31369	0.073000	0.16731	-1.166000	0.01754	CGT		0.423	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			T	38798159	C	T	38798159	3	4	36	1	0	0	0	0	1	0	0	0	15946	536	19	1	70	1	TLR1	4	38798159	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10		38798159	152356117	14	2613											
DSPP	1834	mdanderson.org	37	chr4	88537088	88537088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatagcagtgacagcagcAatagcagtgacagcagcgat	14	6	13	8	1	0	3	0	3	0	0	0	4	0	3	0	0	6	5	0	0	3	2	rs201754564	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr4:88537088A>G	ENST00000282478.7	+	4	3307	c.3274A>G	c.(3274-3276)Aat>Gat	p.N1092D	DSPP_ENST00000399271.1_Missense_Mutation_p.N1092D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1092	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)		tgacagcagcaatagcagtga	0.542													G|||	3443	0.6875	0.8207	0.7291	5008	,	,		11661	0.6498		0.671	False		,,,				2504	0.5337					.											0													20	29	26					4																	88537088		783	1640	2423	SO:0001583	missense	1834			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.3274A>G	4.37:g.88537088A>G	ENSP00000282478:p.Asn1092Asp		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	2.684	-0.274594	0.05679	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87887	-2.31;-2.31	1.51	-0.39	0.12450	.	.	.	.	.	T	0.62466	0.2430	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.54456	-0.8291	8	0.07644	T	0.81	.	5.2031	0.15275	0.5656:0.0:0.4344:0.0	.	1092	Q9NZW4	DSPP_HUMAN	D	1092	ENSP00000382213:N1092D;ENSP00000282478:N1092D	ENSP00000282478:N1092D	N	+	1	0	DSPP	88756112	0.033000	0.19621	0.000000	0.03702	0.001000	0.01503	-0.014000	0.12656	-0.601000	0.05783	-2.064000	0.00396	AAT		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		G	88537088	A	G	88537088	3	3	36	1	0	0	0	0	1	0	0	0	4782	130	5	4	3288	4	DSPP	4	88537088	Missense_Mutation	SNP	A	TCGA-KN-8421-01A-11D-2310-10	49738929	88537088	102617188	15	2614											
POMZP3	22932	mdanderson.org	37	chr7	76255328	76255328	+	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	aatactcacatcgcagaacgCgaaaatcttctgtcaggagg	14	8	9	10	3	4	1	2	0	2	1	5	3	4	2	0	2	2	1	0	2	5	2	rs199608185		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr7:76255328C>T	ENST00000310842.4	-	2	738	c.54G>A	c.(52-54)tcG>tcA	p.S18S	UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Silent_p.S18S|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	18										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				TCGCAGAACGCGAAAATCTTC	0.483																																						.											0													106	78	87					7																	76255328		2202	4300	6502	SO:0001819	synonymous_variant	22932			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.54G>A	7.37:g.76255328C>T			F6STJ3|Q12903|Q9BWB4	Silent	SNP	ENST00000310842.4	37	CCDS43606.1																																																																																				0.483	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		T	76255328	C	T	76255328	2	4	36	1	0	0	0	0	0	0	0	1	12247	755	27	1		1	POMZP3	7	76255328	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10		76255328	82883335	16	2615											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	82579951	82579951	+	Missense_Mutation	SNP	T	T	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	ttccagaagggtcatagttaTactggtagatctgccgaatc	11	12	10	8	1	2	2	1	0	1	2	4	3	3	2	2	2	2	2	2	2	6	5	rs376865880		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr7:82579951T>C	ENST00000333891.9	-	6	10290	c.9953A>G	c.(9952-9954)tAt>tGt	p.Y3318C	PCLO_ENST00000423517.2_Missense_Mutation_p.Y3318C|PCLO_ENST00000437081.1_Missense_Mutation_p.Y38C	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						GTCATAGTTATACTGGTAGAT	0.483																																						.											0								T	CYS/TYR,CYS/TYR	1,3899		0,1,1949	136	126	129		9953,9953	5.3	1	7		129	0,8304		0,0,4152	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	194,194	0,1,6101	CC,CT,TT		0.0,0.0256,0.0082	probably-damaging,probably-damaging	3318/4936,3318/5143	82579951	1,12203	1950	4152	6102	SO:0001583	missense	27445			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.9953A>G	7.37:g.82579951T>C	ENSP00000334319:p.Tyr3318Cys			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253482	0.39797	2.56E-4	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35236	2.26;2.26;1.32	5.29	5.29	0.74685	.	.	.	.	.	T	0.56499	0.1989	L	0.59436	1.845	0.40882	D	0.984007	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.73380	0.887;0.98;0.98	T	0.61397	-0.7071	9	0.87932	D	0	.	15.5102	0.75776	0.0:0.0:0.0:1.0	.	3249;3318;3318	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3249;3318;3318;38	ENSP00000334319:Y3318C;ENSP00000388393:Y3318C;ENSP00000393760:Y38C	ENSP00000334319:Y3318C	Y	-	2	0	PCLO	82417887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.672000	0.74477	2.128000	0.65567	0.460000	0.39030	TAT		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82579951	T	C	82579951	3	2	36	1	0	0	0	0	1	0	0	0	11583	1406	49	4	5572	4	PCLO	7	82579951	Missense_Mutation	SNP	T	TCGA-KN-8421-01A-11D-2310-10	6324623	82579951	76558712	17	2616											
C7orf51	222950	broad.mit.edu	37	chr7	100087171	100087171	+	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	atctcctgtgcccacgtcatCgccagcgcagggacaccaga	9	6	10	16	3	2	1	1	0	1	1	4	2	2	2	4	1	2	1	4	1	0	0	rs141655359	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr7:100087171C>A	ENST00000300179.2	+	4	1986	c.1827C>A	c.(1825-1827)atC>atA	p.I609I	NYAP1_ENST00000423930.1_Silent_p.I609I|NYAP1_ENST00000454988.1_Silent_p.I552I	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	609					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.I609I(1)									CCCACGTCATCGCCAGCGCAG	0.642																																						.											1	Substitution - coding silent(1)	lung(1)											44	47	46					7																	100087171		2203	4299	6502	SO:0001819	synonymous_variant	222950			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.1827C>A	7.37:g.100087171C>A			Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	CCDS5696.1																																																																																				0.642	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		A	100087171	C	A	100087171	2	1	36	1	0	0	0	0	0	0	0	1	2400	874	31	5		5	C7orf51	7	100087171	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	17507220	100087171	59051492	18	2617											
FAM86B1	85002	mdanderson.org	37	chr8	12044010	12044010	+	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	cattgagaaggacattccctCggagctgctcgaggacccgg	9	7	13	12	3	0	1	0	1	0	1	3	6	1	4	2	4	2	2	2	4	1	2	rs201876260	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr8:12044010C>T	ENST00000448228.2	-	5	540	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000534520.1_Intron|FAM86B1_ENST00000533513.1_3'UTR|FAM86B1_ENST00000533852.2_Missense_Mutation_p.R198Q	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	164										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GACATTCCCTCGGAGCTGCTC	0.617																																						.											0													39	43	42					8																	12044010		1489	2646	4135	SO:0001583	missense	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.491G>A	8.37:g.12044010C>T	ENSP00000407067:p.Arg164Gln			Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.	.	.	.	.	.	.	.	.	.	-	11.09	1.537041	0.27475	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	T	0.20881	2.04	1.17	1.17	0.20885	.	.	.	.	.	T	0.12689	0.0308	L	0.33624	1.015	0.80722	D	1	B;B	0.32573	0.376;0.123	B;B	0.28385	0.089;0.046	T	0.13124	-1.0521	9	0.24483	T	0.36	.	8.2654	0.31810	0.0:1.0:0.0:0.0	.	164;198	Q8N7N1;E9PN63	F86B1_HUMAN;.	Q	198;164;198	ENSP00000407067:R164Q	ENSP00000444227:R198Q	R	-	2	0	FAM86B1	12081419	0.000000	0.05858	0.202000	0.23494	0.276000	0.26787	-0.432000	0.06956	0.950000	0.37743	0.173000	0.16961	CGA		0.617	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		T	12044010	C	T	12044010	3	4	36	1	0	0	0	0	1	0	0	0	5644	884	31	1	411	1	FAM86B1	8	12044010	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10		12044010	134320012	19	2618											
MYC	4609	broad.mit.edu	37	chr8	128752827	128752827	+	Frame_Shift_Del	DEL	A	A	-																															actacgcagcgcctccctccActcggaaggactatcctgct																										TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr8:128752827delA	ENST00000377970.2	+	3	1498	c.988delA	c.(988-990)actfs	p.T330fs	MYC_ENST00000524013.1_Frame_Shift_Del_p.T329fs	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	315					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GCCTCCCTCCACTCGGAAGGA	0.577		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																	.		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0													81	63	69					8																	128752827		2203	4300	6503	SO:0001589	frameshift_variant	4609				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.988delA	8.37:g.128752827delA	ENSP00000367207:p.Thr330fs		A8WFE7|P01107|Q14026	Frame_Shift_Del	DEL	ENST00000377970.2	37	CCDS6359.2																																																																																				0.577	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			-	128752827	A	-	128752827	7	5	36	1	0	1	0	1	0	0	0	0	10016	159	6	0	998	0	MYC	8	128752827	Frame_Shift_Del	DEL	A	TCGA-KN-8421-01A-11D-2310-10	116708817	128752827	17611195	20	2619											
ARC	23237	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr8	143694490	143694490	+	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	acggactcgctgttgggggcGggcgtgagggtctccgcctc	3	8	18	12	5	1	1	0	1	1	0	4	2	1	2	2	5	0	2	2	5	0	1			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr8:143694490G>A	ENST00000356613.2	-	1	2343	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGTTGGGGGCGGGCGTGAGGG	0.706																																						.											0													7	9	8					8																	143694490		2150	4240	6390	SO:0001819	synonymous_variant	23237			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.1143C>T	8.37:g.143694490G>A			B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	CCDS34950.1																																																																																				0.706	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			A	143694490	G	A	143694490	2	1	36	1	0	0	0	0	0	0	0	1	841	1103	39	1		1	ARC	8	143694490	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	14941663	143694490	2669532	21	2620											
PLEC	5339	mdanderson.org	37	chr8	144996111	144996111	+	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	agtgcatcccggccattgggCagggtctttgtggcagccac	6	9	14	12	1	1	0	0	0	1	0	2	0	2	0	3	4	2	3	3	4	0	2	rs34803322	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr8:144996111C>T	ENST00000322810.4	-	32	8458	c.8289G>A	c.(8287-8289)ctG>ctA	p.L2763L	PLEC_ENST00000357649.2_Silent_p.L2630L|PLEC_ENST00000436759.2_Silent_p.L2653L|PLEC_ENST00000356346.3_Silent_p.L2612L|PLEC_ENST00000527096.1_Silent_p.L2649L|PLEC_ENST00000354958.2_Silent_p.L2604L|PLEC_ENST00000354589.3_Silent_p.L2626L|PLEC_ENST00000345136.3_Silent_p.L2626L|PLEC_ENST00000398774.2_Silent_p.L2594L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2763	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						GGCCATTGGGCAGGGTCTTTG	0.687													C|||	373	0.0744808	0.0121	0.147	5008	,	,		17788	0.0456		0.0626	False		,,,				2504	0.1493					.											0								C	,,,,,,,	66,4038		1,64,1987	15	19	17		7959,7836,7812,8289,7782,7878,7890,7878	2.1	1	8	dbSNP_126	17	487,7773		10,467,3653	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	11,531,5640	TT,TC,CC		5.8959,1.6082,4.4727	,,,,,,,	2653/4575,2612/4534,2604/4526,2763/4685,2594/4516,2626/4548,2630/4552,2626/4548	144996111	553,11811	2052	4130	6182	SO:0001819	synonymous_variant	5339			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.8289G>A	8.37:g.144996111C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1	118	0.05402930402930403	3	0.006097560975609756	45	0.12430939226519337	19	0.033216783216783216	51	0.06728232189973615	C	0.062	-1.222671	0.01530	0.016082	0.058959	ENSG00000178209	ENST00000527303	.	.	.	3.95	2.09	0.27110	.	.	.	.	.	T	0.00845	0.0028	.	.	.	0.09310	P	0.9999999999999596	.	.	.	.	.	.	T	0.13469	-1.0508	3	.	.	.	.	8.6493	0.34025	0.0:0.7593:0.1535:0.0873	rs34803322;rs34803322	.	.	.	Y	196	.	.	C	-	2	0	PLEC	145068099	0.994000	0.37717	0.997000	0.53966	0.022000	0.10575	0.364000	0.20325	0.427000	0.26145	0.448000	0.29417	TGC		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144996111	C	T	144996111	2	4	36	1	0	0	0	0	0	0	0	1	12052	697	25	4		4	PLEC	8	144996111	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	1301621	144996111	1367911	22	2621											
PTPRD	5789	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	8521528	8521528	+	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	tagtgggtgggatagagaatCttggtgggacacggcgaact	10	9	17	5	2	1	1	0	0	1	1	1	5	1	3	0	5	1	0	0	5	4	3			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr9:8521528C>G	ENST00000381196.4	-	17	1253	c.710G>C	c.(709-711)aGa>aCa	p.R237T	PTPRD_ENST00000397617.3_Missense_Mutation_p.R227T|PTPRD_ENST00000355233.5_Missense_Mutation_p.R237T|PTPRD_ENST00000486161.1_Missense_Mutation_p.R237T|PTPRD_ENST00000537002.1_Missense_Mutation_p.R234T|PTPRD_ENST00000356435.5_Missense_Mutation_p.R237T|PTPRD_ENST00000397611.3_Missense_Mutation_p.R234T|PTPRD_ENST00000358503.5_Missense_Mutation_p.R224T|PTPRD_ENST00000540109.1_Missense_Mutation_p.R237T|PTPRD_ENST00000360074.4_Missense_Mutation_p.R224T|PTPRD_ENST00000397606.3_Missense_Mutation_p.R227T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	237	Ig-like C2-type 3.				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)		GATAGAGAATCTTGGTGGGAC	0.448										TSP Lung(15;0.13)																												.											0													102	87	92					9																	8521528		2203	4300	6503	SO:0001583	missense	5789			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.710G>C	9.37:g.8521528C>G	ENSP00000370593:p.Arg237Thr		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463524	0.84425	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	N	0.21142	0.635	0.80722	D	1	D;D;D;D;D;D;P;D;P	0.89917	1.0;1.0;0.999;1.0;0.994;1.0;0.764;1.0;0.802	D;D;D;D;P;D;B;D;P	0.81914	0.995;0.995;0.986;0.995;0.859;0.995;0.225;0.972;0.459	T	0.70037	-0.4982	9	.	.	.	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	227;231;237;237;234;234;224;237;237	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	237;237;224;224;237;227;234;234;237;237;237;227	ENSP00000370593:R237T;ENSP00000348812:R237T;ENSP00000353187:R224T;ENSP00000351293:R224T;ENSP00000347373:R237T;ENSP00000380741:R227T;ENSP00000380735:R234T;ENSP00000440515:R234T;ENSP00000438164:R237T;ENSP00000417093:R237T;ENSP00000380731:R227T	.	R	-	2	0	PTPRD	8511528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.688000	0.91661	0.563000	0.77884	AGA		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			G	8521528	C	G	8521528	3	3	36	1	0	0	0	0	1	0	0	0	12799	913	32	5	5204	5	PTPRD	9	8521528	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10		8521528	132691903	23	2622											
PRSS3	5646	mdanderson.org	37	chr9	33798016	33798016	+	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	tccaccatctctctgcccacCacccctccagctgctggcac	6	8	5	22	0	2	0	0	0	2	0	5	0	4	0	7	1	3	3	7	1	0	0			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr9:33798016C>T	ENST00000361005.5	+	3	561	c.561C>T	c.(559-561)acC>acT	p.T187T	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.T130T|PRSS3_ENST00000429677.3_Silent_p.T123T|PRSS3_ENST00000342836.4_Silent_p.T144T	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	187	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)			CTCTGCCCACCACCCCTCCAG	0.562																																						.											0													177	135	149					9																	33798016		2203	4300	6503	SO:0001819	synonymous_variant	5646				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.561C>T	9.37:g.33798016C>T			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	NM_002771		T	33798016	C	T	33798016	2	4	36	1	0	0	0	0	0	0	0	1	12622	581	21	4		4	PRSS3	9	33798016	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	25276488	33798016	107415415	24	2623											
FAM120AOS	158293	mdanderson.org	37	chr9	96214928	96214928	+	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	gacacttgagggctgggagaGagccccggaccagaattcgg	10	5	16	10	2	0	3	0	1	0	2	1	7	0	5	3	4	1	1	3	4	1	2	rs1055710	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr9:96214928G>A	ENST00000375412.5	-	1	946	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	FAM120A_ENST00000333936.5_Intron|FAM120AOS_ENST00000479094.1_5'Flank|FAM120AOS_ENST00000423591.1_5'Flank|FAM120A_ENST00000277165.6_Intron|FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000375389.3_Intron	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	22			L -> F (in dbSNP:rs1055710). {ECO:0000269|PubMed:14702039}.							kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						GGCTGGGAGAGAGCCCCGGAC	0.627													G|||	1451	0.289736	0.2247	0.33	5008	,	,		14673	0.4187		0.3509	False		,,,				2504	0.1534					.											0								G	,PHE/LEU	862,3084		96,670,1207	22	25	24		,64	-6.6	0	9	dbSNP_86	24	2380,5512		372,1636,1938	yes	intron,missense	FAM120A,FAM120AOS	NM_014612.3,NM_198841.2	,22	468,2306,3145	AA,AG,GG		30.1571,21.8449,27.3864	,benign	,22/257	96214928	3242,8596	1973	3946	5919	SO:0001583	missense	158293			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 10 opposite strand"	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.64C>T	9.37:g.96214928G>A	ENSP00000364561:p.Leu22Phe		A6NN20	Missense_Mutation	SNP	ENST00000375412.5	37	CCDS6705.1	781	0.3576007326007326	114	0.23170731707317074	137	0.3784530386740331	258	0.45104895104895104	272	0.35883905013192613	G	13.52	2.262325	0.39995	0.218449	0.301571	ENSG00000188938	ENST00000375412	T	0.55588	0.51	3.32	-6.63	0.01807	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B	0.20780	0.048	B	0.16289	0.015	T	0.41052	-0.9530	8	0.32370	T	0.25	.	2.1198	0.03723	0.1008:0.2486:0.2257:0.4248	rs1055710;rs3196205;rs58279967;rs1055710	22	Q5T036	F120S_HUMAN	F	22	ENSP00000364561:L22F	ENSP00000364561:L22F	L	-	1	0	FAM120AOS	95254749	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.624000	0.02038	-1.502000	0.01814	0.591000	0.81541	CTC		0.627	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			A	96214928	G	A	96214928	3	1	36	1	0	0	0	0	1	0	0	0	5416	942	33	4	718	4	FAM120AOS	9	96214928	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	62416912	96214928	44998503	25	2624											
MUC6	4588	mdanderson.org	37	chr11	1017684	1017684	+	Missense_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	tggtggtagaagttgaggtgGcttcagcatggtgtgtggag	7	12	19	3	0	1	2	1	1	0	1	1	3	1	3	0	6	1	4	0	6	2	3	rs112886536	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:1017684G>A	ENST00000421673.2	-	31	5167	c.5117C>T	c.(5116-5118)gCc>gTc	p.A1706V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1706	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)		AGTTGAGGTGGCTTCAGCATG	0.552																																						.											0								A	VAL/ALA	52,4350	752.1+/-412.3	0,52,2149	681	675	677		5117	-2.6	0	11	dbSNP_132	677	13,8559	797.0+/-407.5	0,13,4273	no	missense	MUC6	NM_005961.2	64	0,65,6422	AA,AG,GG		0.1517,1.1813,0.501	benign	1706/2440	1017684	65,12909	2201	4286	6487	SO:0001583	missense	4588			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.5117C>T	11.37:g.1017684G>A	ENSP00000406861:p.Ala1706Val		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	4.055	0.007944	0.07866	0.011813	0.001517	ENSG00000184956	ENST00000421673	T	0.19669	2.13	1.69	-2.64	0.06114	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30268	-0.9984	9	0.34782	T	0.22	.	3.8045	0.08771	0.1451:0.0:0.4591:0.3957	.	1706	Q6W4X9	MUC6_HUMAN	V	1706	ENSP00000406861:A1706V	ENSP00000406861:A1706V	A	-	2	0	MUC6	1007684	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.275000	0.08525	-0.637000	0.05516	-0.850000	0.03035	GCC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017684	G	A	1017684	3	1	36	1	0	0	0	0	1	0	0	0	9980	1203	42	3	2214	3	MUC6	11	1017684	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10		1017684	133988832	26	2625											
MUC2	4583	mdanderson.org	37	chr11	1093575	1093575	+	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	cccatcaccaccacaactacGgtgaccgcaaccccaacacc	13	3	4	21	2	1	1	1	1	0	0	1	1	1	1	7	1	4	1	7	1	4	1	rs201450769		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:1093575G>T	ENST00000441003.2	+	30	5421	c.5394G>T	c.(5392-5394)acG>acT	p.T1798T	MUC2_ENST00000359061.5_Silent_p.T1754T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T86T	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.T1798T(1)|p.T1754T(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)	ccacaactacGGTGACCGCAA	0.582																																						.											2	Substitution - coding silent(2)	lung(2)											92	124	113					11																	1093575		2192	4266	6458	SO:0001819	synonymous_variant	4583			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.5394G>T	11.37:g.1093575G>T			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.582	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093575	G	T	1093575	2	4	36	1	0	0	0	0	0	0	0	1	9975	1103	39	5		5	MUC2	11	1093575	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	75891	1093575	133912941	27	2626											
OR9G1	390174	mdanderson.org	37	chr11	56468440	56468440	+	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	tggcctgtggcgagaagggcGgctataaaattatgatgtac	11	10	14	6	2	0	2	0	1	0	1	0	3	0	2	1	4	1	2	1	4	6	4	rs397849038|rs12421330		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:56468440G>T	ENST00000312153.1	+	1	577	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CGAGAAGGGCGGCTATAAAAT	0.478																																						.											0													117	118	118					11																	56468440		2201	4296	6497	SO:0001583	missense	390174			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.577G>T	11.37:g.56468440G>T	ENSP00000309012:p.Gly193Cys		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	5.488	0.275107	0.10403	.	.	ENSG00000174914	ENST00000312153	T	0.00091	8.74	4.52	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.649761	0.14366	N	0.324095	T	0.00241	0.0007	L	0.28400	0.85	0.09310	N	1	P	0.46859	0.885	P	0.62184	0.899	T	0.56208	-0.8017	10	0.72032	D	0.01	-12.3577	8.9994	0.36072	0.2548:0.0:0.7452:0.0	rs12421330	193	Q8NH87	OR9G1_HUMAN	C	193	ENSP00000309012:G193C	ENSP00000309012:G193C	G	+	1	0	OR9G1	56225016	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.080000	0.03407	0.630000	0.30394	-1.202000	0.01658	GGC		0.478	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		T	56468440	G	T	56468440	3	4	36	1	0	0	0	0	1	0	0	0	11250	1116	39	5	579	5	OR9G1	11	56468440	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	55374865	56468440	78538076	28	2627											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	64664265	64664265	+	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	gcccacgcctcccagcaggcCgggcagctggttcttgcgga	5	6	14	16	3	1	0	0	0	1	0	2	1	2	1	4	4	3	4	4	4	0	2			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:64664265C>T	ENST00000377264.3	-	38	5339	c.5227G>A	c.(5227-5229)Ggc>Agc	p.G1743S	ATG2A_ENST00000421419.2_Missense_Mutation_p.G1745S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1743					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						CCCAGCAGGCCGGGCAGCTGG	0.622											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											0													58	60	59					11																	64664265		2201	4297	6498	SO:0001583	missense	23130				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.5227G>A	11.37:g.64664265C>T	ENSP00000366475:p.Gly1743Ser	1078	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.331934|4.331934	0.81801|0.81801	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264|ENST00000418259	T;T|.	0.08370|.	3.1;3.1|.	4.05|4.05	3.13|3.13	0.36017|0.36017	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.43255|0.43255	0.1239|0.1239	N|N	0.26130|0.26130	0.795|0.795	0.54753|0.54753	D|D	0.999981|0.999981	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.18935|0.18935	-1.0321|-1.0321	10|5	0.35671|.	T|.	0.21|.	.|.	9.7877|9.7877	0.40686|0.40686	0.0:0.8963:0.0:0.1037|0.0:0.8963:0.0:0.1037	.|.	1743;1745|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	S|Q	1745;136;1743|1546	ENSP00000410522:G1745S;ENSP00000366475:G1743S|.	ENSP00000366473:G136S|.	G|R	-|-	1|2	0|0	ATG2A|ATG2A	64420841|64420841	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.971000|0.971000	0.66376|0.66376	5.233000|5.233000	0.65337|0.65337	1.067000|1.067000	0.40740|0.40740	-0.258000|-0.258000	0.10820|0.10820	GGC|CGG		0.622	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64664265	C	T	64664265	3	4	36	1	0	0	0	0	1	0	0	0	1093	652	23	1	605	1	ATG2A	11	64664265	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	8195825	64664265	70342251	29	2628											
KRTAP5-10	387273	mdanderson.org	37	chr11	71276702	71276702	+	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	tgtggctccggctgtgggggCtgtggctccggctgtggggg	0	10	22	9	2	0	0	0	0	0	0	2	0	2	0	2	8	0	5	2	8	0	0	rs113977776		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:71276702C>T	ENST00000398531.1	+	1	94	c.69C>T	c.(67-69)ggC>ggT	p.G23G	KRTAP5-10_ENST00000376536.4_Silent_p.G23G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	23						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGTGGGGGCTGTGGCTCCG	0.662																																						.											0													29	40	37					11																	71276702		2178	4275	6453	SO:0001819	synonymous_variant	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.69C>T	11.37:g.71276702C>T			B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																				0.662	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			T	71276702	C	T	71276702	2	4	36	1	0	0	0	0	0	0	0	1	8559	784	28	4		4	KRTAP5-10	11	71276702	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	6612437	71276702	63729814	30	2629											
DLG2	1740	mdanderson.org	37	chr11	84245725	84245725	+	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	ctcttacttcgtgggttagtCgaggtaaggaatgatcatgt	9	14	12	6	2	2	1	1	1	1	0	4	3	2	2	0	3	1	2	0	3	4	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:84245725C>T	ENST00000532653.1	-	2	394	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DLG2_ENST00000543673.1_Missense_Mutation_p.R136Q|DLG2_ENST00000398309.2_Missense_Mutation_p.R31Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R136Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R31Q			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)				GTGGGTTAGTCGAGGTAAGGA	0.388																																						.											0													194	180	184					11																	84245725		1876	4115	5991	SO:0001583	missense	1740			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.92G>A	11.37:g.84245725C>T	ENSP00000435849:p.Arg31Gln		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.113970	0.77210	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.50627	D	0.000107	T	0.31071	0.0785	N	0.03948	-0.315	0.80722	D	1	D;B;D;B	0.63046	0.982;0.051;0.992;0.083	P;B;P;B	0.48901	0.59;0.01;0.594;0.025	T	0.22277	-1.0221	9	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	31;31;136;31	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	Q	31;136;136;31;31;136;52	ENSP00000381355:R31Q;ENSP00000365272:R136Q;ENSP00000441994:R136Q;ENSP00000432894:R31Q;ENSP00000435849:R31Q;ENSP00000435809:R52Q	.	R	-	2	0	DLG2	83923373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.624000	0.67764	2.778000	0.95560	0.655000	0.94253	CGA		0.388	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		T	84245725	C	T	84245725	3	4	36	1	0	0	0	0	1	0	0	0	4555	884	31	1	2767	1	DLG2	11	84245725	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	12969023	84245725	50760791	31	2630											
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr11	123886665	123886665	+	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	tacttggccatcagttacccGctcaggtacaccagcatgat	10	10	8	13	1	2	1	2	1	0	0	2	1	2	1	3	2	4	4	3	2	3	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr11:123886665G>A	ENST00000320891.4	+	1	384	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCAGTTACCCGCTCAGGTACA	0.557																																						.											0																																										SO:0001819	synonymous_variant	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.384G>A	11.37:g.123886665G>A			Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																				0.557	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		A	123886665	G	A	123886665	2	1	36	1	0	0	0	0	0	0	0	1	10901	1074	38	1		1	OR10G4	11	123886665	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	39640940	123886665	11119851	32	2631											
PRB2	653247	mdanderson.org	37	chr12	11546006	11546006	+	Missense_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	tggaggtgggggaccttgagGtttgttgcctccttgtgggg	3	13	19	6	0	0	1	0	1	0	0	1	3	1	3	3	7	1	2	3	7	0	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr12:11546006G>A	ENST00000389362.4	-	3	1041	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	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)			GGACCTTGAGGTTTGTTGCCT	0.612																																						.											0													64	77	72					12																	11546006		2154	4213	6367	SO:0001583	missense	653247			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.1006C>T	12.37:g.11546006G>A	ENSP00000374013:p.Pro336Ser		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.910201	0.00508	.	.	ENSG00000121335	ENST00000389362	T	0.05382	3.45	1.28	1.28	0.21552	.	.	.	.	.	T	0.02267	0.0070	N	0.04090	-0.28	0.09310	N	1	B	0.23540	0.087	B	0.15870	0.014	T	0.47586	-0.9106	9	0.10111	T	0.7	.	4.2319	0.10608	0.2535:0.0:0.7465:0.0	.	336	P02812	PRB2_HUMAN	S	336	ENSP00000374013:P336S	ENSP00000374013:P336S	P	-	1	0	PRB2	11437273	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.293000	0.33353	0.634000	0.30469	0.492000	0.49549	CCT		0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		A	11546006	G	A	11546006	3	1	36	1	0	0	0	0	1	0	0	0	12443	1261	44	3	248	3	PRB2	12	11546006	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10		11546006	122305889	33	2632											
GALNT6	11226	broad.mit.edu	37	chr12	51757967	51757967	+	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	ggaggaagtgtttcccagccGaaggtcaggctccagtcaaa	11	7	13	10	1	2	0	2	0	0	0	4	3	4	2	3	4	1	2	3	4	3	1			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr12:51757967G>A	ENST00000543196.2	-	5	1192	c.987C>T	c.(985-987)ttC>ttT	p.F329F	GALNT6_ENST00000356317.3_Silent_p.F329F			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	329					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTTCCCAGCCGAAGGTCAGGC	0.572																																						.											0													119	111	114					12																	51757967		2203	4300	6503	SO:0001819	synonymous_variant	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.987C>T	12.37:g.51757967G>A			Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	CCDS8813.1																																																																																				0.572	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		A	51757967	G	A	51757967	2	1	36	1	0	0	0	0	0	0	0	1	6217	1049	37	1		1	GALNT6	12	51757967	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10	40211961	51757967	82093928	34	2633											
C13orf26	122046	ucsc.edu	37	chr13	31531011	31531011	+	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	attatgtttgctttgataggAcattttcctgtggacactac	9	17	8	7	0	0	1	0	1	0	0	1	3	1	3	1	2	2	2	1	2	3	7			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr13:31531011A>G	ENST00000380473.3	+	4	327	c.314A>G	c.(313-315)gAc>gGc	p.D105G		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	105																	CTTTGATAGGACATTTTCCTG	0.403																																						.											0													93	85	87					13																	31531011		2203	4300	6503	SO:0001630	splice_region_variant	122046			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 26"	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.313-1A>G	13.37:g.31531011A>G				Missense_Mutation	SNP	ENST00000380473.3	37	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	A	2.912	-0.225094	0.06022	.	.	ENSG00000175664	ENST00000380473	T	0.46451	0.87	4.81	-2.77	0.05877	.	0.976673	0.08367	N	0.956788	T	0.28234	0.0697	L	0.31294	0.92	0.23681	N	0.997123	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	10	0.20519	T	0.43	0.4607	10.9049	0.47073	0.5433:0.0:0.4567:0.0	.	105	Q8N6G2	CM026_HUMAN	G	105	ENSP00000369840:D105G	ENSP00000369840:D105G	D	+	2	0	C13orf26	30429011	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.149000	0.16243	-1.433000	0.01977	-1.676000	0.00740	GAC		0.403	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325	Missense_Mutation	G	31531011	A	G	31531011	5	3	36	1	0	0	0	0	0	0	1	0	1722	289	10	2	328	2	C13orf26	13	31531011	Splice_Site	SNP	A	TCGA-KN-8421-01A-11D-2310-10		31531011	83638867	35	2634											
KBTBD6	89890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	41704863	41704863	+	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	aatgtggtacctatattaatCcattggtctcccctaatatc	11	15	5	10	0	1	0	0	0	1	0	4	0	2	0	4	2	1	1	4	2	7	7			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr13:41704863C>A	ENST00000379485.1	-	1	2019	c.1785G>T	c.(1783-1785)tgG>tgT	p.W595C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.W529C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	595										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)		CTATATTAATCCATTGGTCTC	0.438																																						.											0													180	178	178					13																	41704863		2203	4300	6503	SO:0001583	missense	89890			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.1785G>T	13.37:g.41704863C>A	ENSP00000368799:p.Trp595Cys		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.165208	0.57476	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.75589	-0.95;-0.95	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81938	-0.0704	10	0.87932	D	0	.	13.5205	0.61566	0.0:1.0:0.0:0.0	.	529;595	F5GZN7;Q86V97	.;KBTB6_HUMAN	C	595;529	ENSP00000368799:W595C;ENSP00000444326:W529C	ENSP00000368799:W595C	W	-	3	0	KBTBD6	40602863	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.462000	0.60121	2.132000	0.65825	0.462000	0.41574	TGG		0.438	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		A	41704863	C	A	41704863	3	1	36	1	0	0	0	0	1	0	0	0	7997	856	30	5	243	5	KBTBD6	13	41704863	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	10173852	41704863	73465015	36	2635											
POTEG	404785	mdanderson.org	37	chr14	19558994	19558994	+	Missense_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	tggtgtaatactgacaggccGtacaatgccgggaagatgaa	13	8	13	7	2	0	3	0	2	0	1	0	4	0	4	2	3	3	2	2	3	6	3	rs138773680		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr14:19558994G>A	ENST00000409832.3	+	3	692	c.640G>A	c.(640-642)Gta>Ata	p.V214I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	214										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGACAGGCCGTACAATGCCG	0.383																																						.											0													161	182	175					14																	19558994		1924	3884	5808	SO:0001583	missense	404785				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.640G>A	14.37:g.19558994G>A	ENSP00000386971:p.Val214Ile		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	7.950	0.744672	0.15710	.	.	ENSG00000222036	ENST00000409832	T	0.66638	-0.22	1.87	0.387	0.16259	Ankyrin repeat-containing domain (4);	0.710225	0.12028	N	0.506284	T	0.47710	0.1460	L	0.28694	0.88	0.20926	N	0.999823	B	0.18968	0.032	B	0.16289	0.015	T	0.29488	-1.0010	10	0.35671	T	0.21	.	4.2876	0.10862	0.3015:0.0:0.6985:0.0	.	214	Q6S5H5	POTEG_HUMAN	I	214	ENSP00000386971:V214I	ENSP00000386971:V214I	V	+	1	0	POTEG	18628994	0.882000	0.30256	0.041000	0.18516	0.038000	0.13279	1.019000	0.30014	0.095000	0.17434	0.184000	0.17185	GTA		0.383	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19558994	G	A	19558994	3	1	36	1	0	0	0	0	1	0	0	0	12266	1145	40	1	650	1	POTEG	14	19558994	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10		19558994	87790546	37	2636											
OR4N2	390429	broad.mit.edu	37	chr14	20296067	20296067	+	Frame_Shift_Del	DEL	G	G	-																															ctctgtggcttgggggttttGtccactccattatccaggtg																										TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr14:20296067delG	ENST00000315947.1	+	1	460	c.460delG	c.(460-462)gtcfs	p.V154fs	OR4N2_ENST00000568211.1_Frame_Shift_Del_p.V154fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	154						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGGGTTTTGTCCACTCCAT	0.527																																						.											0													126	138	134					14																	20296067		2203	4298	6501	SO:0001589	frameshift_variant	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.460delG	14.37:g.20296067delG	ENSP00000319601:p.Val154fs		Q6IEY9|Q6IFA2	Frame_Shift_Del	DEL	ENST00000315947.1	37	CCDS32022.1																																																																																				0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			-	20296067	G	-	20296067	7	5	36	1	0	1	0	1	0	0	0	0	11077	1377	48	0	462	0	OR4N2	14	20296067	Frame_Shift_Del	DEL	G	TCGA-KN-8421-01A-11D-2310-10	737073	20296067	87053473	38	2637											
RFX7	64864	ucsc.edu	37	chr15	56388708	56388708	+	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	tggggagtctttggtgcctgTttcacagactgcatgtgctg	5	14	14	8	0	2	1	1	0	1	1	2	2	2	2	1	3	3	3	1	3	0	2			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr15:56388708T>C	ENST00000559447.2	-	9	1198	c.927A>G	c.(925-927)aaA>aaG	p.K309K	RFX7_ENST00000422057.1_Silent_p.K309K|RFX7_ENST00000317318.6_Silent_p.K406K|RFX7_ENST00000423270.1_Silent_p.K406K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	309					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						TTGGTGCCTGTTTCACAGACT	0.532																																						.											0													99	101	100					15																	56388708		2024	4188	6212	SO:0001819	synonymous_variant	64864					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.927A>G	15.37:g.56388708T>C			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																					0.532	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		C	56388708	T	C	56388708	2	2	36	1	0	0	0	0	0	0	0	1	13268	1722	60	2		2	RFX7	15	56388708	Silent	SNP	T	TCGA-KN-8421-01A-11D-2310-10		56388708	46142684	39	2638											
ELMO3	1874	ucsc.edu	37	chr16	67233116	67233116	+	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	gcgagtgcgggacaccgaggTcaggtctcggaaagggagga	10	4	19	8	4	2	0	1	0	1	0	3	6	2	4	1	6	1	0	1	6	1	0			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr16:67233116T>C	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Missense_Mutation_p.S16P|ELMO3_ENST00000360833.1_Missense_Mutation_p.S16P	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)		GACACCGAGGTCAGGTCTCGG	0.692																																						.											0													21	30	27					16																	67233116		2087	4209	6296	SO:0001628	intergenic_variant	79767			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.67233116T>C			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352548	0.61293	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.15952	2.39;2.38	4.18	-5.95	0.02241	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36915	-0.9728	9	0.87932	D	0	5.329	0.5961	0.00736	0.2758:0.1806:0.1364:0.4072	.	16;16	F8W9E7;Q96BJ8-3	.;.	P	16	ENSP00000354077:S16P;ENSP00000377566:S16P	ENSP00000354077:S16P	S	+	1	0	ELMO3	65790617	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.328000	0.02680	-0.679000	0.05217	-0.468000	0.05107	TCA		0.692	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		C	67233116	T	C	67233116	1	2	36	0	1	0	0	0	0	0	0	0	5067	1667	58	2		2	ELMO3	16	67233116	IGR	SNP	T	TCGA-KN-8421-01A-11D-2310-10		67233116	23121637	40	2639											
KIAA0753	9851	hgsc.bcm.edu	37	chr17	6510586	6510586	+	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	agtttcagcatcaagccaagCgagcctagcagacagtcaaa	15	6	9	11	1	3	1	3	0	0	1	3	2	3	1	2	0	5	3	2	0	4	2			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr17:6510586C>T	ENST00000361413.3	-	11	2192	c.1834G>A	c.(1834-1836)Gct>Act	p.A612T	KIAA0753_ENST00000542606.1_Missense_Mutation_p.A313T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A68T|KIAA0753_ENST00000575027.1_5'Flank|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A313T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	612						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCAAGCCAAGCGAGCCTAGCA	0.438																																						.											0													107	105	106					17																	6510586		1944	4143	6087	SO:0001583	missense	9851				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1834G>A	17.37:g.6510586C>T	ENSP00000355250:p.Ala612Thr		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458604	0.43634	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	D;D	0.86562	-2.14;-2.14	5.31	3.28	0.37604	.	0.225713	0.46145	D	0.000313	T	0.79839	0.4515	L	0.59436	1.845	0.27718	N	0.945211	P	0.39964	0.697	B	0.30029	0.11	T	0.74861	-0.3520	10	0.72032	D	0.01	-8.8009	6.7333	0.23395	0.1801:0.7305:0.0:0.0894	.	612	Q2KHM9	K0753_HUMAN	T	612;313;68	ENSP00000355250:A612T;ENSP00000444634:A313T	ENSP00000355250:A612T	A	-	1	0	KIAA0753	6451310	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.501000	0.22578	0.890000	0.36211	0.650000	0.86243	GCT		0.438	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		T	6510586	C	T	6510586	3	4	36	1	0	0	0	0	1	0	0	0	8191	768	27	1	1105	1	KIAA0753	17	6510586	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10		6510586	74684624	41	2640											
BCAS3	54828	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	59118255	59118255	+	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	1	0	0	0	0	0	0	cagttcctgcttgctggccgTaagtagttcagatttttttt	6	18	9	8	1	1	1	1	0	0	1	2	1	2	1	2	1	2	6	2	1	2	9			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr17:59118255T>G	ENST00000390652.5	+	20	2105		c.e20+2		BCAS3_ENST00000589222.1_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site	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)			TTGCTGGCCGTAAGTAGTTCA	0.428																																						.											0													114	110	111					17																	59118255		1919	4140	6059	SO:0001630	splice_region_variant	54828			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.2074+2T>G	17.37:g.59118255T>G				Splice_Site	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476995	0.84640	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905;ENST00000360207	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2267	0.73357	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCAS3	56473037	1.000000	0.71417	0.988000	0.46212	0.910000	0.53928	7.194000	0.77789	2.007000	0.58848	0.528000	0.53228	.		0.428	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	Intron	G	59118255	T	G	59118255	5	3	36	1	0	0	0	0	0	0	1	0	1352	1652	57	5	2150	5	BCAS3	17	59118255	Splice_Site	SNP	T	TCGA-KN-8421-01A-11D-2310-10	52607669	59118255	22076955	42	2641											
XAB2	56949	mdanderson.org	37	chr19	7694393	7694393	+	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	tccggccgctcgggccgcgaGagtcgcgccatcaccaccat	6	5	12	18	7	1	1	1	0	0	1	4	2	2	1	6	2	0	1	6	2	0	0	rs4134809	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr19:7694393G>A	ENST00000358368.4	-	1	58	c.21C>T	c.(19-21)ctC>ctT	p.L7L	PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.L4L|PET100_ENST00000601406.1_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000456958.3_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	7					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGGGCCGCGAGAGTCGCGCCA	0.667								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	1320	0.263578	0.2103	0.2219	5008	,	,		14881	0.2083		0.3777	False		,,,				2504	0.3047					.											0								G		915,3483		96,723,1380	25	27	26		21	-8.9	0	19	dbSNP_108	26	3162,5430		573,2016,1707	no	coding-synonymous	XAB2	NM_020196.2		669,2739,3087	AA,AG,GG		36.8017,20.8049,31.3857		7/856	7694393	4077,8913	2199	4296	6495	SO:0001819	synonymous_variant	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.21C>T	19.37:g.7694393G>A			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	CCDS32892.1																																																																																				0.667	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		A	7694393	G	A	7694393	2	1	36	1	0	0	0	0	0	0	0	1	17415	929	33	4		4	XAB2	19	7694393	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10		7694393	51434590	43	2642											
VSTM1	284415	hgsc.bcm.edu;mdanderson.org	37	chr19	54561798	54561798	+	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	gtcacattgctctcggcttcAaccaccgagctgggccaggc	7	8	11	15	2	3	0	2	0	1	0	4	1	3	0	3	3	3	3	3	3	1	2			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr19:54561798A>T	ENST00000338372.2	-	3	292	c.117T>A	c.(115-117)gtT>gtA	p.V39V	VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Silent_p.V39V|VSTM1_ENST00000425006.2_Silent_p.V39V	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	39	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCTCGGCTTCAACCACCGAGC	0.502																																						.											0													90	92	91					19																	54561798		2203	4300	6503	SO:0001819	synonymous_variant	284415			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.117T>A	19.37:g.54561798A>T			B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Silent	SNP	ENST00000338372.2	37	CCDS12872.1																																																																																				0.502	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		T	54561798	A	T	54561798	2	4	36	1	0	0	0	0	0	0	0	1	17225	117	5	5		5	VSTM1	19	54561798	Silent	SNP	A	TCGA-KN-8421-01A-11D-2310-10	46867405	54561798	4567185	44	2643											
NLRP7	199713	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	55447692	55447692	+	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	acagcatcagcatcatcgtgCgttcccactcgatgtgccct	8	10	8	15	3	2	0	2	0	0	0	5	1	3	0	2	0	4	3	2	0	0	1			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr19:55447692C>T	ENST00000590030.1	-	5	2277	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	NLRP7_ENST00000446217.1_Missense_Mutation_p.R774H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R746H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R746H|NLRP7_ENST00000588756.1_Missense_Mutation_p.R746H|NLRP7_ENST00000448121.2_Missense_Mutation_p.R718H|NLRP7_ENST00000328092.5_Missense_Mutation_p.R718H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	746							ATP binding (GO:0005524)	p.R746H(1)|p.R718H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATCATCGTGCGTTCCCACTC	0.572																																						.											2	Substitution - Missense(2)	lung(2)											127	95	106					19																	55447692		2203	4300	6503	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2237G>A	19.37:g.55447692C>T	ENSP00000465520:p.Arg746His		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710327	0.30322	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.53206	0.63;0.63;0.63	1.95	0.909	0.19332	.	.	.	.	.	T	0.43986	0.1272	L	0.33485	1.01	0.09310	N	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.997	P;P;P;P	0.57468	0.813;0.743;0.743;0.821	T	0.22487	-1.0215	9	0.34782	T	0.22	.	3.3391	0.07111	0.0:0.24:0.0:0.76	.	774;746;746;718	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	H	746;718;746;774;513	ENSP00000409137:R718H;ENSP00000339491:R746H;ENSP00000414273:R774H	ENSP00000329568:R746H	R	-	2	0	NLRP7	60139504	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.980000	0.03770	0.240000	0.21263	-0.367000	0.07326	CGC		0.572	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55447692	C	T	55447692	3	4	36	1	0	0	0	0	1	0	0	0	10482	768	27	1	900	1	NLRP7	19	55447692	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	885894	55447692	3681291	45	2644											
SNRPB2	6629	mdanderson.org;bcgsc.ca	37	chr20	16717906	16717906	+	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	ttttcaaataattaaaacagCgaatacagtatgcaaaaaca	21	10	4	6	1	1	0	1	0	0	0	1	1	1	0	0	0	5	2	0	0	9	6			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr20:16717906C>T	ENST00000246071.6	+	4	454	c.238C>T	c.(238-240)Cga>Tga	p.R80*	SNRPB2_ENST00000377943.5_Splice_Site_p.R80*	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	80	RRM 1. {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						ATTAAAACAGCGAATACAGTA	0.299																																						.											0													48	47	47					20																	16717906		2202	4300	6502	SO:0001630	splice_region_variant	6629				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.238-1C>T	20.37:g.16717906C>T			B2R7J3|D3DW21|Q9UJD4	Nonsense_Mutation	SNP	ENST00000246071.6	37	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	C	37	6.507542	0.97624	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	.	.	.	5.76	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9868	13.6047	0.62039	0.4197:0.5803:0.0:0.0	.	.	.	.	X	80	.	.	R	+	1	2	SNRPB2	16665906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.811000	0.27198	0.710000	0.31997	0.655000	0.94253	CGA		0.299	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092	Nonsense_Mutation	T	16717906	C	T	16717906	5	4	36	1	0	0	0	0	0	0	1	0	14862	782	27	1	248	1	SNRPB2	20	16717906	Splice_Site	SNP	C	TCGA-KN-8421-01A-11D-2310-10		16717906	46307614	46	2645											
SFRS6	6431	broad.mit.edu	37	chr20	42089576	42089576	+	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	gagccagtcccgttccaattCgccgctacctgttccaccct	6	10	7	18	3	0	0	0	0	0	0	4	1	3	0	7	0	2	3	7	0	2	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr20:42089576C>T	ENST00000244020.3	+	6	1014	c.908C>T	c.(907-909)tCg>tTg	p.S303L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	303	Arg/Ser-rich (RS domain).				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						CGTTCCAATTCGCCGCTACCT	0.493																																						.											0													83	81	82					20																	42089576		2203	4300	6503	SO:0001583	missense	6431			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.908C>T	20.37:g.42089576C>T	ENSP00000244020:p.Ser303Leu		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589874	0.46214	.	.	ENSG00000124193	ENST00000244020	T	0.39997	1.05	5.93	5.93	0.95920	.	0.115021	0.64402	D	0.000012	T	0.50667	0.1629	M	0.79693	2.465	0.42950	D	0.994375	B	0.15473	0.013	B	0.06405	0.002	T	0.48714	-0.9011	10	0.52906	T	0.07	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	303	Q13247	SRSF6_HUMAN	L	303	ENSP00000244020:S303L	ENSP00000244020:S303L	S	+	2	0	SRSF6	41522990	.	.	0.998000	0.56505	0.906000	0.53458	.	.	2.803000	0.96430	0.585000	0.79938	TCG		0.493	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		T	42089576	C	T	42089576	3	4	36	1	0	0	0	0	1	0	0	0	14181	893	31	1	930	1	SFRS6	20	42089576	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	25371670	42089576	20935944	47	2646											
WFDC5	149708	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	43739299	43739299	+	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	agaccctggggacacactggCggaagcaagctctgtagcag	11	5	14	11	1	1	1	0	0	1	1	1	3	1	3	1	4	3	4	1	4	3	1	rs370436377		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr20:43739299C>T	ENST00000307971.4	-	2	281	c.203G>A	c.(202-204)cGc>cAc	p.R68H	WFDC5_ENST00000372789.4_Missense_Mutation_p.R68H			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	68	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GACACACTGGCGGAAGCAAGC	0.622																																					NSCLC(199;98 2227 9943 13455 41914)	.											0								C	HIS/ARG	0,4406		0,0,2203	73	59	64		203	-1.9	1	20		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	WFDC5	NM_145652.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	68/124	43739299	1,13005	2203	4300	6503	SO:0001583	missense	149708			AY038181	CCDS33475.1	20q13.11	2013-01-21			ENSG00000175121	ENSG00000175121		"WAP four-disulfide core domain containing"	20477	protein-coding gene	gene with protein product		605161				12206714, 10680116	Standard	NM_145652		Approved	WAP1, dJ211D12.5	uc002xne.2	Q8TCV5	OTTHUMG00000046411	ENST00000307971.4:c.203G>A	20.37:g.43739299C>T	ENSP00000312381:p.Arg68His		Q5H981|Q6UWE4	Missense_Mutation	SNP	ENST00000307971.4	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.148427	0.78001	0.0	1.16E-4	ENSG00000175121	ENST00000372789;ENST00000307971	T;T	0.74002	-0.8;-0.8	5.24	-1.92	0.07618	Whey acidic protein, 4-disulphide core (5);	0.707661	0.12732	N	0.443738	T	0.77336	0.4115	L	0.41961	1.31	0.24345	N	0.994946	D	0.89917	1.0	D	0.78314	0.991	T	0.69323	-0.5175	10	0.14252	T	0.57	-35.335	14.0095	0.64486	0.6716:0.3284:0.0:0.0	.	68	Q8TCV5	WFDC5_HUMAN	H	68	ENSP00000361875:R68H;ENSP00000312381:R68H	ENSP00000312381:R68H	R	-	2	0	WFDC5	43172713	0.994000	0.37717	0.997000	0.53966	0.920000	0.55202	-0.019000	0.12546	-0.117000	0.11872	0.585000	0.79938	CGC		0.622	WFDC5-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000107192.1			T	43739299	C	T	43739299	3	4	36	1	0	0	0	0	1	0	0	0	17351	768	27	1	180	1	WFDC5	20	43739299	Missense_Mutation	SNP	C	TCGA-KN-8421-01A-11D-2310-10	1649723	43739299	19286221	48	2647											
TMPRSS15	5651	broad.mit.edu;mdanderson.org	37	chr21	19744529	19744529	+	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	ccacacattttattgtcttcGtcagaaccatctggacagtt	10	14	6	11	1	3	1	1	0	2	1	4	2	3	2	2	1	1	1	2	1	2	5			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr21:19744529G>A	ENST00000284885.3	-	6	678	c.645C>T	c.(643-645)gaC>gaT	p.D215D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	215	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					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						TATTGTCTTCGTCAGAACCAT	0.443																																						.											0													139	117	124					21																	19744529		2203	4300	6503	SO:0001819	synonymous_variant	5651				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.645C>T	21.37:g.19744529G>A			Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.443	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19744529	G	A	19744529	2	1	36	1	0	0	0	0	0	0	0	1	16243	1136	40	1		1	TMPRSS15	21	19744529	Silent	SNP	G	TCGA-KN-8421-01A-11D-2310-10		19744529	28385366	49	2648											
B3GALT5	10317	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr21	41033159	41033159	+	Missense_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	gctacgtgttttctggcgacGtggcgagtcaggtgtacaat	7	12	14	8	4	2	0	1	0	1	0	2	2	2	0	0	3	2	3	0	3	3	4	rs144752439		TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr21:41033159G>A	ENST00000380620.4	+	5	1265	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	B3GALT5_ENST00000343118.4_Missense_Mutation_p.V225M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V225M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V225M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	225					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)				TTCTGGCGACGTGGCGAGTCA	0.522																																						.											0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86	85	86		673,673,673,673,673	3.3	0.1	21	dbSNP_134	86	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	B3GALT5	NM_006057.1,NM_033170.1,NM_033171.1,NM_033172.1,NM_033173.1	21,21,21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	225/311,225/311,225/311,225/311,225/311	41033159	1,13005	2203	4300	6503	SO:0001583	missense	10317			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.673G>A	21.37:g.41033159G>A	ENSP00000369994:p.Val225Met		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947287	0.34377	2.27E-4	0.0	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.49	3.35	0.38373	.	0.114937	0.36555	N	0.002538	T	0.61073	0.2318	M	0.72576	2.205	0.42482	D	0.992867	D	0.89917	1.0	D	0.76071	0.987	T	0.65639	-0.6119	10	0.59425	D	0.04	.	12.7459	0.57281	0.1557:0.0:0.8443:0.0	.	225	Q9Y2C3	B3GT5_HUMAN	M	225	ENSP00000369994:V225M;ENSP00000369992:V225M;ENSP00000343318:V225M;ENSP00000381699:V225M	ENSP00000343318:V225M	V	+	1	0	B3GALT5	39955029	0.643000	0.27269	0.114000	0.21550	0.059000	0.15707	0.976000	0.29462	1.324000	0.45282	0.655000	0.94253	GTG		0.522	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		A	41033159	G	A	41033159	3	1	36	1	0	0	0	0	1	0	0	0	1250	1145	40	1	675	1	B3GALT5	21	41033159	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	21288630	41033159	7096736	50	2649											
KRTAP10-2	386679	mdanderson.org	37	chr21	45971081	45971081	+	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	ggggaggaggtgcagcaagcCggctggcagctagactgctg	8	5	19	9	1	0	1	0	0	0	1	0	3	0	3	1	6	5	6	1	6	2	1			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr21:45971081C>T	ENST00000391621.1	-	1	307	c.261G>A	c.(259-261)ccG>ccA	p.P87P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	87	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGCAGCAAGCCGGCTGGCAGC	0.687																																						.											0													57	61	60					21																	45971081		2202	4292	6494	SO:0001819	synonymous_variant	386679			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.261G>A	21.37:g.45971081C>T			Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																				0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45971081	C	T	45971081	2	4	36	1	0	0	0	0	0	0	0	1	8509	639	23	1		1	KRTAP10-2	21	45971081	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10	4937922	45971081	2158814	51	2650											
GAS2L1	10634	ucsc.edu;mdanderson.org	37	chr22	29704662	29704662	+	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	gacaccactgaaaccgccccCgcaccagggactcctgcccg	9	3	9	20	3	0	1	0	1	0	0	1	3	1	2	7	1	2	1	7	1	1	0	rs56037813	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr22:29704662C>G	ENST00000406549.3	+	2	717	c.567C>G	c.(565-567)ccC>ccG	p.P189P	GAS2L1_ENST00000360113.2_Silent_p.P189P|GAS2L1_ENST00000407647.2_Silent_p.P189P|GAS2L1_ENST00000403764.1_Silent_p.P189P|GAS2L1_ENST00000471961.1_Silent_p.P189P|GAS2L1_ENST00000341313.6_Silent_p.P189P|GAS2L1_ENST00000407854.1_Silent_p.P189P	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	189					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						AAACCGCCCCCGCACCAGGGA	0.706													C|||	99	0.0197684	0.0023	0.0274	5008	,	,		13609	0		0.0706	False		,,,				2504	0.0061					.											0								C	,,	51,4287		0,51,2118	8	12	11		567,567,567	-9.1	0	22	dbSNP_129	11	506,8000		17,472,3764	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS2L1	NM_006478.3,NM_152236.1,NM_152237.1	,,	17,523,5882	GG,GC,CC		5.9487,1.1757,4.3367	,,	189/682,189/682,189/338	29704662	557,12287	2169	4253	6422	SO:0001819	synonymous_variant	10634			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.567C>G	22.37:g.29704662C>G			B5MCR7|Q53EN7|Q92640|Q9BUY9	Silent	SNP	ENST00000406549.3	37																																																																																					0.706	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321365.1	NM_006478		G	29704662	C	G	29704662	2	3	36	1	0	0	0	0	0	0	0	1	6246	639	23	5		5	GAS2L1	22	29704662	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10		29704662	21599904	52	2651											
ELFN2	114794	bcgsc.ca	37	chr22	37770611	37770611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgcacgaggatgtacaTcttgctgtaggggtgtggga	8	11	16	6	1	1	0	0	0	1	0	1	3	1	2	0	4	4	5	0	4	3	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chr22:37770611T>C	ENST00000402918.2	-	3	1749	c.964A>G	c.(964-966)Atg>Gtg	p.M322V	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	322	Fibronectin type-III.				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)					AGGATGTACATCTTGCTGTAG	0.582																																						.											0													355	319	331					22																	37770611		2203	4300	6503	SO:0001583	missense	114794			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.964A>G	22.37:g.37770611T>C	ENSP00000385277:p.Met322Val		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406807	0.25378	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.04194	3.68;3.68	5.24	4.12	0.48240	.	0.045384	0.85682	D	0.000000	T	0.08223	0.0205	M	0.64997	1.995	0.45594	D	0.998538	P	0.36412	0.552	B	0.37731	0.257	T	0.07347	-1.0777	10	0.62326	D	0.03	-38.7595	12.568	0.56320	0.0:0.0:0.2406:0.7594	.	322	Q5R3F8	PPR29_HUMAN	V	322	ENSP00000300147:M322V;ENSP00000385277:M322V	ENSP00000300147:M322V	M	-	1	0	ELFN2	36100557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.084000	0.57650	1.979000	0.57680	0.496000	0.49642	ATG		0.582	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		C	37770611	T	C	37770611	3	2	36	1	0	0	0	0	1	0	0	0	5058	1435	50	4	1502	4	ELFN2	22	37770611	Missense_Mutation	SNP	T	TCGA-KN-8421-01A-11D-2310-10	8065949	37770611	13533955	53	2652											
ZRSR2	8233	mdanderson.org	37	chrX	15838366	15838366	+	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	gcagccctttctctgtttaaCggacgatggtatgcaggacg	8	11	12	10	3	1	0	0	0	1	0	2	3	1	2	1	3	3	4	1	3	2	4	rs2301724	byFrequency	TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chrX:15838366C>T	ENST00000307771.7	+	10	888	c.864C>T	c.(862-864)aaC>aaT	p.N288N		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	288	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CTCTGTTTAACGGACGATGGT	0.413			"F, S, Mis"		"MDS, CLL"								C|||	2105	0.557616	0.4191	0.4035	3775	,	,		15276	0.4504		0.3976	False		,,,				2504	0.4264				NSCLC(197;1631 3042 5741 31152)	.		Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	0								C		2087,1748		475,822,315,335,256	162	153	156		864	-3.4	0.7	X	dbSNP_100	156	3278,3450		555,1233,935,640,937	no	coding-synonymous	ZRSR2	NM_005089.3		1030,2055,1250,975,1193	TT,TC,T,CC,C		48.7218,45.5802,49.2095		288/483	15838366	5365,5198	2203	4300	6503	SO:0001819	synonymous_variant	8233			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.864C>T	X.37:g.15838366C>T			Q14D69	Silent	SNP	ENST00000307771.7	37	CCDS14172.1																																																																																				0.413	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		T	15838366	C	T	15838366	2	4	36	1	0	0	0	0	0	0	0	1	18222	535	19	1		1	ZRSR2	23	15838366	Silent	SNP	C	TCGA-KN-8421-01A-11D-2310-10		15838366	139432194	54	2653											
NKAP	79576	broad.mit.edu	37	chrX	119072773	119072773	+	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	ctctctctctcacttaatctCctagcagataaagacatgta	12	13	4	12	0	4	2	1	0	3	2	7	2	4	2	1	0	1	2	1	0	5	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chrX:119072773C>T	ENST00000371410.3	-	2	553	c.387G>A	c.(385-387)aaG>aaA	p.K129K	NKAP_ENST00000477789.1_5'Flank	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	129					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|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 alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CACTTAATCTCCTAGCAGATA	0.348																																						.											0													70	71	70					X																	119072773		2203	4297	6500	SO:0001630	splice_region_variant	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.387-1G>A	X.37:g.119072773C>T			Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	CCDS14592.1																																																																																				0.348	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	Silent	T	119072773	C	T	119072773	5	4	36	1	0	0	0	0	0	0	1	0	10439	869	30	3	892	3	NKAP	23	119072773	Splice_Site	SNP	C	TCGA-KN-8421-01A-11D-2310-10	103234407	119072773	36197787	55	2654											
ZBTB33	10009	broad.mit.edu	37	chrX	119389135	119389135	+	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	tgggtataaggttgacactgGaaaagaacctccagtaggga	14	8	13	6	0	0	2	0	1	0	1	1	4	1	4	2	4	1	3	2	4	6	4			TCGA-KN-8421-01A-11D-2310-10	TCGA-KN-8421-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ba686386-8113-4885-b20f-6ad09a295604	9d5ee3f8-490f-4865-bb90-fe0a1bbf3643	g.chrX:119389135G>A	ENST00000326624.2	+	2	2093	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G622E	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	622	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTTGACACTGGAAAAGAACCT	0.378																																						.											0													108	102	104					X																	119389135		2202	4300	6502	SO:0001583	missense	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1865G>A	X.37:g.119389135G>A	ENSP00000314153:p.Gly622Glu		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	7.271	0.607135	0.14002	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.09255	3.0;3.0	5.88	5.88	0.94601	.	0.436525	0.22660	N	0.057216	T	0.06371	0.0164	N	0.14661	0.345	0.36328	D	0.85869	P	0.37500	0.597	B	0.33799	0.17	T	0.35076	-0.9803	10	0.45353	T	0.12	-4.2508	8.8319	0.35089	0.0812:0.1475:0.7713:0.0	.	622	Q86T24	KAISO_HUMAN	E	622	ENSP00000314153:G622E;ENSP00000450969:G622E	ENSP00000314153:G622E	G	+	2	0	ZBTB33;AC002086.1	119273163	0.999000	0.42202	0.994000	0.49952	0.986000	0.74619	3.660000	0.54496	2.474000	0.83562	0.600000	0.82982	GGA		0.378	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		A	119389135	G	A	119389135	3	1	36	1	0	0	0	0	1	0	0	0	17533	1174	41	3	1867	3	ZBTB33	23	119389135	Missense_Mutation	SNP	G	TCGA-KN-8421-01A-11D-2310-10	316362	119389135	35881425	56	2655											
PRAMEF1	65121	mdanderson.org	37	chr1	12854401	12854401	+	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	tatacctgaatagtattcaaGagctggaaattcgcaacatg	15	11	8	7	1	1	2	1	1	0	1	2	3	1	3	1	1	3	3	1	1	8	6	rs201717831		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:12854401G>T	ENST00000332296.7	+	3	728	c.625G>T	c.(625-627)Gag>Tag	p.E209*	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	209					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)		TAGTATTCAAGAGCTGGAAAT	0.398																																						.											0													363	333	343					1																	12854401		2203	4300	6503	SO:0001587	stop_gained	65121			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.625G>T	1.37:g.12854401G>T	ENSP00000332134:p.Glu209*		Q9UQP2	Nonsense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023241	0.54683	.	.	ENSG00000116721	ENST00000332296	.	.	.	1.74	0.76	0.18442	.	0.742629	0.12834	N	0.435382	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.5875	0.07977	0.2694:0.0:0.7306:0.0	.	.	.	.	X	209	.	ENSP00000332134:E209X	E	+	1	0	PRAMEF1	12776988	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.426000	0.21363	0.256000	0.21614	0.543000	0.68304	GAG		0.398	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12854401	G	T	12854401	4	4	37	1	0	0	0	0	0	1	0	0	12425	943	33	5	631	5	PRAMEF1	1	12854401	Nonsense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10		12854401	236396220	1	2656											
PRAMEF4	400735	mdanderson.org	37	chr1	12939548	12939548	+	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	1	0	0	0	0	0	0	0	0	tcagcaccataactctcccgGggggcaggatacagctccac	10	6	10	15	1	2	0	1	0	1	0	4	1	3	1	3	4	4	3	3	4	2	2	rs28599804	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:12939548G>C	ENST00000235349.5	-	4	1324	c.1254C>G	c.(1252-1254)ccC>ccG	p.P418P		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	418					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)		AACTCTCCCGGGGGGCAGGAT	0.517																																						.											0													93	104	100					1																	12939548		1503	2686	4189	SO:0001819	synonymous_variant	400735				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.1254C>G	1.37:g.12939548G>C			Q5LJB5	Silent	SNP	ENST00000235349.5	37	CCDS30592.1																																																																																				0.517	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		C	12939548	G	C	12939548	2	2	37	1	0	0	0	0	0	0	0	1	12437	1219	43	5		5	PRAMEF4	1	12939548	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10	85147	12939548	236311073	2	2657											
CPT2	1376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	53676357	53676357	+	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	cccattaaggaccttgtccaCttgtcccacaatatgctgca	10	11	6	14	0	0	0	0	0	0	0	2	1	2	1	4	1	2	2	4	1	3	4			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:53676357C>G	ENST00000371486.3	+	4	1526	c.1011C>G	c.(1009-1011)caC>caG	p.H337Q	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	337					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)	ACCTTGTCCACTTGTCCCACA	0.498																																						.											0													81	75	77					1																	53676357		2203	4300	6503	SO:0001583	missense	1376			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.1011C>G	1.37:g.53676357C>G	ENSP00000360541:p.His337Gln		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	7.566	0.665649	0.14710	.	.	ENSG00000157184	ENST00000371486	D	0.88741	-2.42	5.72	-1.81	0.07882	.	0.086182	0.85682	D	0.000000	D	0.86184	0.5872	L	0.42008	1.315	0.31634	N	0.648631	D	0.55800	0.973	P	0.52514	0.701	D	0.84180	0.0439	10	0.28530	T	0.3	-10.899	11.4141	0.49941	0.0:0.5086:0.0:0.4914	.	337	P23786	CPT2_HUMAN	Q	337	ENSP00000360541:H337Q	ENSP00000360541:H337Q	H	+	3	2	CPT2	53448945	0.998000	0.40836	0.416000	0.26546	0.686000	0.39977	1.073000	0.30691	-0.338000	0.08413	-0.767000	0.03436	CAC		0.498	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		G	53676357	C	G	53676357	3	3	37	1	0	0	0	0	1	0	0	0	3834	564	20	5	1025	5	CPT2	1	53676357	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	40736809	53676357	195574264	3	2658											
RBMXL1	494115	mdanderson.org	37	chr1	89448841	89448841	+	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	tcacgagaacttgggtaatcTctgcttgaatagctgtcttt	9	15	9	8	1	3	2	1	1	2	1	4	3	3	2	0	1	3	3	0	1	4	5	rs150045246		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:89448841T>C	ENST00000321792.5	-	2	1096	c.669A>G	c.(667-669)agA>agG	p.R223R	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Silent_p.R223R|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	223					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TTGGGTAATCTCTGCTTGAAT	0.448																																						.											0													185	168	174					1																	89448841		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.669A>G	1.37:g.89448841T>C				Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.448	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		C	89448841	T	C	89448841	2	2	37	1	0	0	0	0	0	0	0	1	13153	1548	54	2		2	RBMXL1	1	89448841	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	35772484	89448841	159801780	4	2659			1	24		2	2	28	N	T_A	5.930681e-05
RBMXL1	494115	mdanderson.org	37	chr1	89448868	89448868	+	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	gaatagctgtctttagtagaAtacccatcatctcttgggga	11	13	9	8	0	3	1	1	0	2	1	4	3	3	2	1	2	2	2	1	2	6	6	rs200907077		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:89448868A>T	ENST00000321792.5	-	2	1069	c.642T>A	c.(640-642)taT>taA	p.Y214*	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Nonsense_Mutation_p.Y214*|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	214					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTTTAGTAGAATACCCATCAT	0.453																																						.											0													158	152	154					1																	89448868		2203	4298	6501	SO:0001587	stop_gained	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.642T>A	1.37:g.89448868A>T	ENSP00000318415:p.Tyr214*			Nonsense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	A	38	7.031767	0.98013	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	.	.	.	1.53	-0.998	0.10212	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4608	5.5401	0.17033	0.3541:0.0:0.6459:0.0	.	.	.	.	X	214	.	ENSP00000318415:Y214X	Y	-	3	2	RBMXL1	89221456	0.964000	0.33143	0.990000	0.47175	0.840000	0.47671	-0.198000	0.09505	-0.074000	0.12820	0.254000	0.18369	TAT		0.453	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		T	89448868	A	T	89448868	4	4	37	1	0	0	0	0	0	1	0	0	13153	108	4	5	534	5	RBMXL1	1	89448868	Nonsense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	27	89448868	159801753	5	2660			1	24		2	2	28	N	T_A	5.930681e-05
RPRD2	23248	broad.mit.edu	37	chr1	150432553	150432553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtcgaggacaggaaggaaAaacctgcagagaagtcagct	16	4	13	8	1	1	1	1	0	0	1	2	6	1	4	1	3	3	2	1	3	4	0			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:150432553A>G	ENST00000369068.4	+	9	1175	c.1171A>G	c.(1171-1173)Aaa>Gaa	p.K391E	RPRD2_ENST00000401000.4_Missense_Mutation_p.K365E|RPRD2_ENST00000539519.1_Missense_Mutation_p.K365E|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	391						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGGAAGGAAAAACCTGCAGA	0.403																																						.											0													90	88	89					1																	150432553		1895	4123	6018	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1171A>G	1.37:g.150432553A>G	ENSP00000358064:p.Lys391Glu		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889132	0.52014	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.46451	0.87;0.87;0.87	5.02	5.02	0.67125	.	0.323100	0.33980	N	0.004380	T	0.37679	0.1012	L	0.50333	1.59	0.36784	D	0.884518	P;D;D	0.58268	0.941;0.97;0.982	P;P;P	0.58013	0.453;0.681;0.831	T	0.27226	-1.0080	10	0.33940	T	0.23	-12.9847	9.3946	0.38394	0.9192:0.0:0.0808:0.0	.	365;391;365	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	E	365;365;391	ENSP00000383785:K365E;ENSP00000445482:K365E;ENSP00000358064:K391E	ENSP00000358064:K391E	K	+	1	0	RPRD2	148699177	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.345000	0.65987	2.235000	0.73313	0.459000	0.35465	AAA		0.403	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		G	150432553	A	G	150432553	3	3	37	1	0	0	0	0	1	0	0	0	13617	15	1	4	1205	4	RPRD2	1	150432553	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	60983685	150432553	98818068	6	2661											
FLG	2312	mdanderson.org	37	chr1	152276282	152276282	+	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	tgaccggccacgtgtggactCttggtggctctgctgatggg	4	11	16	10	2	2	2	0	2	2	0	2	3	2	3	2	5	1	2	2	5	0	1	rs55707024	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:152276282C>G	ENST00000368799.1	-	3	11115	c.11080G>C	c.(11080-11082)Gag>Cag	p.E3694Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3694	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)	p.E3694Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTGGACTCTTGGTGGCTC	0.587									Ichthyosis				C|||	911	0.181909	0.0772	0.232	5008	,	,		20697	0.3452		0.1004	False		,,,				2504	0.2035					.											1	Substitution - Missense(1)	skin(1)											50	56	54					1																	152276282		2202	4278	6480	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.11080G>C	1.37:g.152276282C>G	ENSP00000357789:p.Glu3694Gln		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909632	0.17833	.	.	ENSG00000143631	ENST00000368799	T	0.01787	4.64	2.52	-3.46	0.04767	.	.	.	.	.	T	0.01454	0.0047	M	0.75447	2.3	0.09310	N	1	D	0.65815	0.995	P	0.61070	0.883	T	0.34254	-0.9836	9	0.20519	T	0.43	.	0.3502	0.00348	0.1921:0.291:0.2301:0.2868	rs55707024;rs58436539	3694	P20930	FILA_HUMAN	Q	3694	ENSP00000357789:E3694Q	ENSP00000357789:E3694Q	E	-	1	0	FLG	150542906	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.189000	0.03061	-0.738000	0.04817	0.552000	0.68991	GAG		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276282	C	G	152276282	3	3	37	1	0	0	0	0	1	0	0	0	5922	922	32	5	1109	5	FLG	1	152276282	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	1843729	152276282	96974339	7	2662											
PEAR1	375033	broad.mit.edu	37	chr1	156877478	156877478	+	Missense_Mutation	SNP	T	T	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	cttgccaaaatggaggtgtcTtccaaaccccacagggctcc	10	8	9	14	0	1	0	0	0	1	0	3	1	3	1	5	3	2	1	5	3	3	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:156877478T>C	ENST00000338302.3	+	8	946	c.721T>C	c.(721-723)Ttc>Ctc	p.F241L	PEAR1_ENST00000292357.7_Missense_Mutation_p.F241L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	241	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)					TGGAGGTGTCTTCCAAACCCC	0.617																																						.											0													126	129	128					1																	156877478		2203	4300	6503	SO:0001583	missense	375033			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.721T>C	1.37:g.156877478T>C	ENSP00000344465:p.Phe241Leu		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470186	0.63625	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.33216	1.42;1.42	5.04	3.91	0.45181	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.873050	0.09701	N	0.766941	T	0.10852	0.0265	L	0.36672	1.1	0.23063	N	0.998359	B;B	0.17465	0.022;0.002	B;B	0.06405	0.002;0.001	T	0.34625	-0.9821	10	0.87932	D	0	.	8.4374	0.32795	0.0:0.0967:0.0:0.9033	.	42;241	Q8N780;Q5VY43	.;PEAR1_HUMAN	L	241	ENSP00000344465:F241L;ENSP00000292357:F241L	ENSP00000292357:F241L	F	+	1	0	PEAR1	155144102	0.994000	0.37717	0.778000	0.31720	0.882000	0.50991	5.023000	0.64084	0.887000	0.36136	0.459000	0.35465	TTC		0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		C	156877478	T	C	156877478	3	2	37	1	0	0	0	0	1	0	0	0	11712	1609	56	2	743	2	PEAR1	1	156877478	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	4601196	156877478	92373143	8	2663											
OR10Z1	128368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	158576392	158576392	+	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	catcaggctggatagccatcTgcacacccccatgtacctct	9	9	7	16	0	3	0	1	0	2	0	3	1	3	1	4	2	3	3	4	2	2	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:158576392T>A	ENST00000361284.1	+	1	164	c.164T>A	c.(163-165)cTg>cAg	p.L55Q		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GATAGCCATCTGCACACCCCC	0.512																																						.											0													257	247	250					1																	158576392		2203	4300	6503	SO:0001583	missense	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.164T>A	1.37:g.158576392T>A	ENSP00000354707:p.Leu55Gln		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.465083	0.63513	.	.	ENSG00000198967	ENST00000361284	T	0.14893	2.47	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32244	N	0.006371	T	0.55000	0.1893	H	0.99689	4.705	0.28824	N	0.897528	D	0.89917	1.0	D	0.87578	0.998	T	0.71417	-0.4599	10	0.87932	D	0	.	14.4836	0.67599	0.0:0.0:0.0:1.0	.	55	Q8NGY1	O10Z1_HUMAN	Q	55	ENSP00000354707:L55Q	ENSP00000354707:L55Q	L	+	2	0	OR10Z1	156843016	1.000000	0.71417	0.142000	0.22268	0.716000	0.41182	7.809000	0.86057	2.246000	0.74042	0.533000	0.62120	CTG		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		A	158576392	T	A	158576392	3	1	37	1	0	0	0	0	1	0	0	0	10923	1580	55	5	166	5	OR10Z1	1	158576392	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	1698914	158576392	90674229	9	2664											
ACBD3	64746	broad.mit.edu;hgsc.bcm.edu	37	chr1	226349254	226349255	+	In_Frame_Ins	INS	-	-	TTC																															tgctgctccaaccgaagcctINSttcttcttctatccgtctcc																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:226349254_226349255insTTC	ENST00000366812.5	-	4	759_760	c.705_706insGAA	c.(703-708)gaaagg>gaaGAAagg	p.235_236insE	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	235	Arg-rich.|Glu-rich.				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)		AACCGAAGcctttcttcttcta	0.396																																						.											0																																										SO:0001652	inframe_insertion	64746			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.703_705dupGAA	1.37:g.226349261_226349263dupTTC	ENSP00000355777:p.Glu235_Glu235dup		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	In_Frame_Ins	INS	ENST00000366812.5	37	CCDS1551.1																																																																																				0.396	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		TTC	226349255	-	TTC	226349254	7	5	37	1	0	1	1	0	0	0	0	0	123	1608	56	0	900	0	ACBD3	1	226349254	In_Frame_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10	67772862	226349254	22901367	10	2665	74	2									
ACBD3	64746	bcgsc.ca	37	chr1	226349255	226349256	+	In_Frame_Ins	INS	-	-	TTC																															gctgctccaaccgaagccttINStcttcttctatccgtctcct																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr1:226349255_226349256insTTC	ENST00000366812.5	-	4	758_759	c.704_705insGAA	c.(703-705)gaa>gaGAAa	p.235_236insK	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	235	Arg-rich.|Glu-rich.				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)		ACCGAAGcctttcttcttctat	0.401																																						.											0																																										SO:0001652	inframe_insertion	64746			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.704_705insGAA	1.37:g.226349255_226349256insTTC	ENSP00000355777:p.Glu235_Arg236insLys		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	In_Frame_Ins	INS	ENST00000366812.5	37	CCDS1551.1																																																																																				0.401	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		TTC	226349256	-	TTC	226349255	7	5	37	1	0	1	1	0	0	0	0	0	123	1838	64	0	901	0	ACBD3	1	226349255	In_Frame_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10	1	226349255	22901366	11	2666	74	2									
MARCO	8685	hgsc.bcm.edu	37	chr2	119750740	119750740	+	Frame_Shift_Del	DEL	C	C	-																															aggattgtcggcagtagtaaCcgaggccgggctgaagttta																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr2:119750740delC	ENST00000327097.4	+	16	1428	c.1293delC	c.(1291-1293)aacfs	p.N431fs	MARCO_ENST00000541757.1_Frame_Shift_Del_p.N353fs	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	431	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.N431K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCAGTAGTAACCGAGGCCGGG	0.532																																					GBM(8;18 374 7467 11269 32796)	.											1	Substitution - Missense(1)	large_intestine(1)											132	124	126					2																	119750740		2203	4300	6503	SO:0001589	frameshift_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1293delC	2.37:g.119750740delC	ENSP00000318916:p.Asn431fs		B4DW79|Q9Y5S3	Frame_Shift_Del	DEL	ENST00000327097.4	37	CCDS2124.1																																																																																				0.532	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		-	119750740	C	-	119750740	7	5	37	1	0	1	0	1	0	0	0	0	9311	506	18	0	1355	0	MARCO	2	119750740	Frame_Shift_Del	DEL	C	TCGA-KN-8422-01A-11D-2310-10		119750740	123448633	12	2667	75	2									
MARCO	8685	bcgsc.ca	37	chr2	119750741	119750741	+	Frame_Shift_Del	DEL	C	C	-																															ggattgtcggcagtagtaacCgaggccgggctgaagtttac																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr2:119750741delC	ENST00000327097.4	+	16	1429	c.1294delC	c.(1294-1296)cgafs	p.R432fs	MARCO_ENST00000541757.1_Frame_Shift_Del_p.R354fs	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	432	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGTAGTAACCGAGGCCGGGC	0.527																																					GBM(8;18 374 7467 11269 32796)	.											0													132	124	127					2																	119750741		2203	4300	6503	SO:0001589	frameshift_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1294delC	2.37:g.119750741delC	ENSP00000318916:p.Arg432fs		B4DW79|Q9Y5S3	Frame_Shift_Del	DEL	ENST00000327097.4	37	CCDS2124.1																																																																																				0.527	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		-	119750741	C	-	119750741	7	5	37	1	0	1	0	1	0	0	0	0	9311	644	23	0	1356	0	MARCO	2	119750741	Frame_Shift_Del	DEL	C	TCGA-KN-8422-01A-11D-2310-10	1	119750741	123448632	13	2668	75	2									
MFSD6	54842	broad.mit.edu	37	chr2	191364759	191364759	+	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	aggggaccaatgagaataggGaaaattctcctgctggtaga	14	8	13	6	0	1	2	0	1	1	2	2	5	1	4	2	4	1	2	2	4	6	3			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr2:191364759G>A	ENST00000392328.1	+	8	2515	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	MFSD6_ENST00000281416.7_Missense_Mutation_p.E731K|MFSD6_ENST00000535751.1_Missense_Mutation_p.E193K	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	731					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGAGAATAGGGAAAATTCTCC	0.468																																						.											0													65	60	62					2																	191364759		2203	4300	6503	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.2191G>A	2.37:g.191364759G>A	ENSP00000376141:p.Glu731Lys		D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	5.451	0.268328	0.10349	.	.	ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000542423;ENST00000535751	T;T	0.32515	1.45;1.45	5.13	2.36	0.29203	.	1.482540	0.03781	N	0.261270	T	0.16642	0.0400	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	10	0.10636	T	0.68	-0.2343	4.8252	0.13412	0.2523:0.1555:0.5922:0.0	.	731	Q6ZSS7	MFSD6_HUMAN	K	731;731;171;193	ENSP00000376141:E731K;ENSP00000281416:E731K	ENSP00000281416:E731K	E	+	1	0	MFSD6	191073004	0.006000	0.16342	0.006000	0.13384	0.472000	0.32918	0.495000	0.22483	0.328000	0.23435	-0.122000	0.15005	GAA		0.468	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			A	191364759	G	A	191364759	3	1	37	1	0	0	0	0	1	0	0	0	9535	1175	41	3	2213	3	MFSD6	2	191364759	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10	71614018	191364759	51834614	14	2669											
BHLHE40	8553	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	5025274	5025274	+	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	ggctcccttgctcatgccccAgagactcccttctcccttgc	4	11	7	19	0	2	1	1	0	1	1	5	2	4	1	5	1	3	2	5	1	0	3			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr3:5025274A>C	ENST00000256495.3	+	5	1739	c.1136A>C	c.(1135-1137)cAg>cCg	p.Q379P		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	379					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CTCATGCCCCAGAGACTCCCT	0.557																																						.											0													145	142	143					3																	5025274		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1136A>C	3.37:g.5025274A>C	ENSP00000256495:p.Gln379Pro		Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.676777	0.29783	.	.	ENSG00000134107	ENST00000256495	T	0.37411	1.2	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000024	T	0.26085	0.0636	N	0.25144	0.715	0.53688	D	0.999975	B	0.09022	0.002	B	0.09377	0.004	T	0.06320	-1.0833	10	0.18710	T	0.47	.	15.6247	0.76845	1.0:0.0:0.0:0.0	.	379	O14503	BHE40_HUMAN	P	379	ENSP00000256495:Q379P	ENSP00000256495:Q379P	Q	+	2	0	BHLHE40	5000274	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.403000	0.73264	2.093000	0.63338	0.533000	0.62120	CAG		0.557	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		C	5025274	A	C	5025274	3	2	37	1	0	0	0	0	1	0	0	0	1423	188	7	5	1154	5	BHLHE40	3	5025274	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10		5025274	192997156	15	2670											
CLASP2	23122	ucsc.edu;mdanderson.org	37	chr3	33586217	33586217	+	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	ccattgccagtgtttcgaagGtgattatgaagaagcttggt	10	13	12	6	1	0	3	0	2	0	1	1	4	0	3	2	2	2	2	2	2	4	4			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr3:33586217G>A	ENST00000468888.2	-	31	3340	c.3294C>T	c.(3292-3294)caC>caT	p.H1098H	CLASP2_ENST00000539981.1_Silent_p.H867H|CLASP2_ENST00000399362.4_Silent_p.H1097H|CLASP2_ENST00000461133.3_Silent_p.H857H|CLASP2_ENST00000480013.1_Silent_p.H877H|CLASP2_ENST00000359576.5_Silent_p.H1089H|CLASP2_ENST00000307312.7_Silent_p.H579H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	878	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				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						TGTTTCGAAGGTGATTATGAA	0.328																																						.											0													97	93	94					3																	33586217		1840	4082	5922	SO:0001819	synonymous_variant	23122			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.3294C>T	3.37:g.33586217G>A			Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	G	8.326	0.825430	0.16749	.	.	ENSG00000163539	ENST00000480385	.	.	.	5.62	4.74	0.60224	.	.	.	.	.	T	0.62073	0.2398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58836	-0.7566	4	.	.	.	-10.8157	11.1819	0.48633	0.1383:0.0:0.8617:0.0	.	.	.	.	S	154	.	.	P	-	1	0	CLASP2	33561221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.305000	0.51873	2.631000	0.89168	0.650000	0.86243	CCT		0.328	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		A	33586217	G	A	33586217	2	1	37	1	0	0	0	0	0	0	0	1	3455	1252	44	3		3	CLASP2	3	33586217	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10	28560943	33586217	164436213	16	2671											
KBTBD5	131377	hgsc.bcm.edu	37	chr3	42730128	42730128	+	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	caaatggggtgaatcggaccCgctgccttacgtggtgtatg	8	10	14	9	3	0	1	0	1	0	0	1	2	0	2	2	4	2	2	2	4	4	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr3:42730128C>T	ENST00000287777.4	+	3	1440	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	447					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GAATCGGACCCGCTGCCTTAC	0.612																																						.											0													82	67	72					3																	42730128		2203	4300	6503	SO:0001583	missense	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1340C>T	3.37:g.42730128C>T	ENSP00000287777:p.Pro447Leu		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	c	15.52	2.857538	0.51376	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.69806	-0.43	4.55	4.55	0.56014	Kelch-type beta propeller (1);	0.359095	0.32093	N	0.006600	T	0.81716	0.4881	H	0.94345	3.525	0.58432	D	0.999996	P	0.49696	0.927	P	0.49387	0.609	D	0.88197	0.2881	10	0.72032	D	0.01	.	17.3734	0.87384	0.0:1.0:0.0:0.0	.	447	Q2TBA0	KBTB5_HUMAN	L	447;192	ENSP00000287777:P447L	ENSP00000287777:P447L	P	+	2	0	KBTBD5	42705132	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.884000	0.69729	2.107000	0.64212	0.444000	0.29173	CCG		0.612	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		T	42730128	C	T	42730128	3	4	37	1	0	0	0	0	1	0	0	0	7996	652	23	1	1350	1	KBTBD5	3	42730128	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	9143911	42730128	155292302	17	2672											
C3orf38	285237	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	88205252	88205252	+	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	gtcattggttctttggacttCttaattctcagaatcctttt	7	20	6	8	0	4	1	2	0	3	1	6	2	5	2	1	2	0	1	1	2	2	8			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr3:88205252C>A	ENST00000318887.3	+	3	767	c.457C>A	c.(457-459)Ctt>Att	p.L153I	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	153					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CTTTGGACTTCTTAATTCTCA	0.378																																						.											0													69	67	68					3																	88205252		2203	4300	6503	SO:0001583	missense	285237			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.457C>A	3.37:g.88205252C>A	ENSP00000322469:p.Leu153Ile		B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051753	0.75960	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79412	-0.1814	9	0.87932	D	0	-21.3008	12.4168	0.55498	0.0:0.9238:0.0:0.0762	.	153	Q5JPI3	CC038_HUMAN	I	153	.	ENSP00000322469:L153I	L	+	1	0	C3orf38	88287942	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.365000	0.52335	2.745000	0.94114	0.563000	0.77884	CTT		0.378	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		A	88205252	C	A	88205252	3	1	37	1	0	0	0	0	1	0	0	0	2228	913	32	5	467	5	C3orf38	3	88205252	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	45475124	88205252	109817178	18	2673											
SDAD1	55153	broad.mit.edu	37	chr4	76896979	76896979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctatctcttaacatggtgtAcatgaaattttgcaatacct	12	15	6	8	0	1	1	0	1	1	0	2	1	1	1	1	1	4	3	1	1	6	6			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:76896979A>G	ENST00000356260.5	-	6	614	c.496T>C	c.(496-498)Tac>Cac	p.Y166H	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Missense_Mutation_p.Y129H	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	166					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)			AACATGGTGTACATGAAATTT	0.378																																						.											0													151	142	145					4																	76896979		2203	4300	6503	SO:0001583	missense	55153			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.496T>C	4.37:g.76896979A>G	ENSP00000348596:p.Tyr166His		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333274	0.81801	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.74002	-0.8;2.65	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.84275	0.0491	10	0.48119	T	0.1	-14.0096	13.4856	0.61364	1.0:0.0:0.0:0.0	.	129;166	E7EW05;Q9NVU7	.;SDA1_HUMAN	H	166;129	ENSP00000348596:Y166H;ENSP00000379061:Y129H	ENSP00000348596:Y166H	Y	-	1	0	SDAD1	77116003	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.923000	0.92808	2.128000	0.65567	0.533000	0.62120	TAC		0.378	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		G	76896979	A	G	76896979	3	3	37	1	0	0	0	0	1	0	0	0	13950	391	14	2	1635	2	SDAD1	4	76896979	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10		76896979	114257297	19	2674											
AGPAT9	84803	mdanderson.org	37	chr4	84502873	84502873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcagaggagctagtgTcatggaatctcctcacaaga	11	11	9	10	0	4	2	3	0	1	2	6	4	5	4	2	2	1	1	2	2	3	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:84502873T>C	ENST00000395226.2	+	4	585	c.367T>C	c.(367-369)Tca>Cca	p.S123P	AGPAT9_ENST00000264409.4_Missense_Mutation_p.S123P	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	123					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)				GGAGCTAGTGTCATGGAATCT	0.473																																						.											0													204	189	194					4																	84502873		2203	4300	6503	SO:0001583	missense	84803			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.367T>C	4.37:g.84502873T>C	ENSP00000378651:p.Ser123Pro		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.970641	0.92919	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.50001	0.76;0.76	5.66	5.66	0.87406	.	0.063176	0.64402	D	0.000002	T	0.64821	0.2633	L	0.58969	1.84	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62987	-0.6737	10	0.37606	T	0.19	-8.3228	15.9352	0.79698	0.0:0.0:0.0:1.0	.	123	Q53EU6	GPAT3_HUMAN	P	123	ENSP00000378651:S123P;ENSP00000264409:S123P	ENSP00000264409:S123P	S	+	1	0	AGPAT9	84721897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.174000	0.68829	0.524000	0.50904	TCA		0.473	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		C	84502873	T	C	84502873	3	2	37	1	0	0	0	0	1	0	0	0	392	1667	58	2	377	2	AGPAT9	4	84502873	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	7605894	84502873	106651403	20	2675											
NDST4	64579	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	115767025	115767025	+	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	aggggtcaatgaggatggtgAtgatcttggctttggggaca	9	11	17	4	0	2	3	1	3	1	0	2	5	2	5	0	7	0	1	0	7	1	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:115767025A>T	ENST00000264363.2	-	10	2747	c.2069T>A	c.(2068-2070)aTc>aAc	p.I690N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	690	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)		GAGGATGGTGATGATCTTGGC	0.428																																						.											0													134	125	128					4																	115767025		2203	4300	6503	SO:0001583	missense	64579			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.2069T>A	4.37:g.115767025A>T	ENSP00000264363:p.Ile690Asn		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573228	0.86542	.	.	ENSG00000138653	ENST00000264363	T	0.72167	-0.63	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.93898	3.47	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.91197	0.4988	10	0.87932	D	0	.	15.8104	0.78557	1.0:0.0:0.0:0.0	.	690	Q9H3R1	NDST4_HUMAN	N	690	ENSP00000264363:I690N	ENSP00000264363:I690N	I	-	2	0	NDST4	115986474	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.851000	0.92205	2.125000	0.65367	0.533000	0.62120	ATC		0.428	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		T	115767025	A	T	115767025	3	4	37	1	0	0	0	0	1	0	0	0	10258	333	12	5	569	5	NDST4	4	115767025	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	31264152	115767025	75387251	21	2676											
ABCE1	6059	broad.mit.edu	37	chr4	146041093	146041093	+	Frame_Shift_Del	DEL	T	T	-																															cttcccaacaggcataaacaTttttttggatggctatgttc																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:146041093delT	ENST00000296577.4	+	11	1447	c.932delT	c.(931-933)attfs	p.I311fs	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	311	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGCATAAACATTTTTTTGGAT	0.358																																						.											0													37	37	37					4																	146041093		2203	4299	6502	SO:0001589	frameshift_variant	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.932delT	4.37:g.146041093delT	ENSP00000296577:p.Ile311fs		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Frame_Shift_Del	DEL	ENST00000296577.4	37	CCDS34071.1																																																																																				0.358	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		-	146041093	T	-	146041093	7	5	37	1	0	1	0	1	0	0	0	0	64	1493	52	0	970	0	ABCE1	4	146041093	Frame_Shift_Del	DEL	T	TCGA-KN-8422-01A-11D-2310-10	30274068	146041093	45113183	22	2677											
ADAM29	11086	mdanderson.org	37	chr4	175899075	175899076	+	Missense_Mutation	DNP	CA	CA	TG																															ccagagtcaacctcctgtgaCaccctcccagaggcaacctc																								rs140568401|rs61744599	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr4:175899075_175899076CA>TG	ENST00000359240.3	+	5	3069_3070	c.2399_2400CA>TG	c.(2398-2400)aCA>aTG	p.T800M	ADAM29_ENST00000404450.4_Missense_Mutation_p.T800M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T800M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T800M|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	800	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACACCCTCCCAGA	0.564																																					Ovarian(140;1727 1835 21805 25838 41440)	.											0																																										SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	Exception_encountered	4.37:g.175899075_175899076delinsTG	ENSP00000352177:p.Thr800Met		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	DNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.564	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				TG	175899076	CA	TG	175899075	3	4	37	1	0	0	0	0	1	0	0	0	247	478	17	4	2401	4	ADAM29	4	175899075	Missense_Mutation	DNP	CA	TCGA-KN-8422-01A-11D-2310-10	29857982	175899075	15255201	23	2678											
PRDM9	56979	mdanderson.org	37	chr5	23527323	23527323	+	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	ctggcagtcagtcctcctcaCtcaccagaggacacacacag	11	6	8	16	0	3	1	3	0	0	1	5	2	5	2	3	2	0	1	3	2	0	0	rs200539936	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr5:23527323C>G	ENST00000296682.3	+	11	2308	c.2126C>G	c.(2125-2127)aCt>aGt	p.T709S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	709					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						GTCCTCCTCACTCACCAGAGG	0.587										HNSCC(3;0.000094)			c|||	492	0.0982428	0.2398	0.0893	5008	,	,		21450	0.0387		0.0298	False		,,,				2504	0.045					.											0													16	15	15					5																	23527323		1825	3640	5465	SO:0001583	missense	56979			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.2126C>G	5.37:g.23527323C>G	ENSP00000296682:p.Thr709Ser		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-4.409211	0.00000	.	.	ENSG00000164256	ENST00000296682	T	0.17370	2.28	2.57	-5.13	0.02884	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.203060	0.01089	N	0.005146	T	0.07999	0.0200	N	0.12920	0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32771	-0.9894	10	0.10111	T	0.7	.	1.0864	0.01654	0.2843:0.3342:0.1048:0.2768	.	709	Q9NQV7	PRDM9_HUMAN	S	709	ENSP00000296682:T709S	ENSP00000296682:T709S	T	+	2	0	PRDM9	23563080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-20.000000	0.00000	-6.649000	0.00003	-6.748000	0.00000	ACT		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		G	23527323	C	G	23527323	3	3	37	1	0	0	0	0	1	0	0	0	12463	565	20	5	2164	5	PRDM9	5	23527323	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10		23527323	157387937	24	2679											
CDC23	8697	broad.mit.edu	37	chr5	137524673	137524673	+	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	ttgagagtagccaactatggCgtgacagaagacaagttgag	14	8	13	6	1	0	5	0	3	0	3	0	6	0	5	1	1	2	2	1	1	5	4			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr5:137524673C>T	ENST00000394886.2	-	16	1818	c.1788G>A	c.(1786-1788)acG>acA	p.T596T		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	596					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)			CCAACTATGGCGTGACAGAAG	0.493																																						.											0													122	115	117					5																	137524673		2203	4300	6503	SO:0001819	synonymous_variant	8697			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.1788G>A	5.37:g.137524673C>T			A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	CCDS4200.2																																																																																				0.493	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			T	137524673	C	T	137524673	2	4	37	1	0	0	0	0	0	0	0	1	3061	755	27	1		1	CDC23	5	137524673	Silent	SNP	C	TCGA-KN-8422-01A-11D-2310-10	113997350	137524673	43390587	25	2680											
FAM184A	79632	ucsc.edu	37	chr6	119332586	119332586	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatctttgttatgttgtTcttccaaatccttagaaaaa	11	19	5	6	0	2	1	0	0	2	1	4	1	4	1	2	0	0	4	2	0	6	8			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr6:119332586T>C	ENST00000338891.7	-	6	1984	c.1541A>G	c.(1540-1542)gAa>gGa	p.E514G	FAM184A_ENST00000521531.1_Missense_Mutation_p.E514G|FAM184A_ENST00000368475.4_Missense_Mutation_p.E394G|FAM184A_ENST00000522284.1_Missense_Mutation_p.E394G|FAM184A_ENST00000352896.5_Missense_Mutation_p.E394G|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	514						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTATGTTGTTCTTCCAAATC	0.279																																						.											0													85	73	77					6																	119332586		1791	4055	5846	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1541A>G	6.37:g.119332586T>C	ENSP00000342604:p.Glu514Gly		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.33|15.33	2.801527|2.801527	0.50315|0.50315	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00362|.	7.84;7.84;7.84;7.84;7.84|.	4.9|4.9	3.73|3.73	0.42828|0.42828	.|.	0.185306|.	0.47455|.	D|.	0.000234|.	T|T	0.42787|0.42787	0.1218|0.1218	L|L	0.44542|0.44542	1.39|1.39	0.36858|0.36858	D|D	0.888276|0.888276	P;P;P|.	0.49559|.	0.925;0.634;0.897|.	P;B;B|.	0.46758|.	0.526;0.234;0.371|.	T|T	0.35101|0.35101	-0.9802|-0.9802	10|5	0.41790|.	T|.	0.15|.	-5.3679|-5.3679	11.9853|11.9853	0.53145|0.53145	0.0:0.0:0.1449:0.855|0.0:0.0:0.1449:0.855	.|.	514;394;514|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	G|D	514;394;394;514;394|100	ENSP00000342604:E514G;ENSP00000326608:E394G;ENSP00000357460:E394G;ENSP00000430442:E514G;ENSP00000429826:E394G|.	ENSP00000342604:E514G|.	E|N	-|-	2|1	0|0	FAM184A|FAM184A	119374285|119374285	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.394000|0.394000	0.30568|0.30568	4.388000|4.388000	0.59633|0.59633	0.886000|0.886000	0.36113|0.36113	0.397000|0.397000	0.26171|0.26171	GAA|AAC		0.279	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		C	119332586	T	C	119332586	3	2	37	1	0	0	0	0	1	0	0	0	5511	1783	62	4	1933	4	FAM184A	6	119332586	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10		119332586	51782481	26	2681											
COL28A1	340267	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	7477054	7477054	+	Missense_Mutation	SNP	T	T	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	aggtggtccaggaattgatgTtccaggcattccaaaagggc	11	9	13	8	0	0	1	0	1	0	0	3	2	3	2	3	5	0	2	3	5	3	3			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr7:7477054T>C	ENST00000399429.3	-	22	1902	c.1762A>G	c.(1762-1764)Aca>Gca	p.T588A		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	588					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGAATTGATGTTCCAGGCATT	0.398																																						.											0													64	60	61					7																	7477054		1815	4076	5891	SO:0001583	missense	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1762A>G	7.37:g.7477054T>C	ENSP00000382356:p.Thr588Ala		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	1.279	-0.610799	0.03690	.	.	ENSG00000215018	ENST00000399429;ENST00000435823;ENST00000399419	D;D	0.94092	-3.35;-2.19	4.68	0.111	0.14619	.	1.291790	0.06060	N	0.658230	T	0.80308	0.4599	N	0.03029	-0.43	0.09310	N	0.99999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.68930	-0.5279	10	0.13853	T	0.58	-0.0421	4.3873	0.11323	0.0:0.3617:0.3764:0.2619	.	588;588;588	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	A	588;5;588	ENSP00000382356:T588A;ENSP00000410557:T5A	ENSP00000382347:T588A	T	-	1	0	COL28A1	7443579	0.948000	0.32251	0.978000	0.43139	0.977000	0.68977	-0.431000	0.06965	-0.077000	0.12752	-0.408000	0.06270	ACA		0.398	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		C	7477054	T	C	7477054	3	2	37	1	0	0	0	0	1	0	0	0	3686	1725	60	2	1671	2	COL28A1	7	7477054	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10		7477054	151661609	27	2682											
AMAC1L2	83650	mdanderson.org	37	chr8	11189601	11189601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattacagcccggaacctcaGctgtgagaggacagggaagg	12	5	14	10	1	1	1	1	1	0	1	1	5	1	4	2	4	4	1	2	4	3	1			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr8:11189601G>T	ENST00000382435.4	+	1	1205	c.986G>T	c.(985-987)aGc>aTc	p.S329I		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	329						integral component of membrane (GO:0016021)											CGGAACCTCAGCTGTGAGAGG	0.517																																						.											0													67	68	68					8																	11189601		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.986G>T	8.37:g.11189601G>T	ENSP00000371872:p.Ser329Ile		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	0.299	-0.974907	0.02215	.	.	ENSG00000177710	ENST00000382435	T	0.28666	1.6	.	.	.	.	0.000000	0.52532	D	0.000061	T	0.22244	0.0536	L	0.54323	1.7	0.26188	N	0.979621	B	0.02656	0.0	B	0.06405	0.002	T	0.18241	-1.0343	8	0.22706	T	0.39	-1.3917	.	.	.	.	329	Q96KT7	S35G5_HUMAN	I	329	ENSP00000371872:S329I	ENSP00000371872:S329I	S	+	2	0	SLC35G5	11227011	0.173000	0.23056	0.298000	0.25002	0.299000	0.27559	0.335000	0.19806	0.064000	0.16427	0.064000	0.15345	AGC		0.517	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189601	G	T	11189601	3	4	37	1	0	0	0	0	1	0	0	0	560	971	34	5	988	5	AMAC1L2	8	11189601	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10		11189601	135174421	28	2683											
DOCK5	80005	broad.mit.edu	37	chr8	25203089	25203089	+	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	acgaggcaagctcgcagcttCtgagcaacatcctggaggtg	10	7	13	11	2	1	1	0	1	1	0	3	3	2	2	1	3	4	5	1	3	2	1			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr8:25203089C>T	ENST00000276440.7	+	26	2760	c.2716C>T	c.(2716-2718)Ctg>Ttg	p.L906L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	906					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)		CTCGCAGCTTCTGAGCAACAT	0.552																																					Pancreas(145;34 1887 3271 10937 30165)	.											0													162	140	148					8																	25203089		2203	4300	6503	SO:0001819	synonymous_variant	80005				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.2716C>T	8.37:g.25203089C>T			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	9.928	1.213958	0.22289	.	.	ENSG00000147459	ENST00000444569	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.70842	0.3270	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67845	-0.5565	4	.	.	.	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	F	677	.	.	S	+	2	0	DOCK5	25259006	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.643000	0.61390	2.941000	0.99782	0.655000	0.94253	TCT		0.552	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25203089	C	T	25203089	2	4	37	1	0	0	0	0	0	0	0	1	4690	912	32	4		4	DOCK5	8	25203089	Silent	SNP	C	TCGA-KN-8422-01A-11D-2310-10	14013488	25203089	121160933	29	2684											
CNGB3	54714	bcgsc.ca	37	chr8	87660049	87660049	+	Missense_Mutation	SNP	T	T	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	ctttaacatcctatttgctcTaaacattggattaaacccaa	14	14	3	10	0	1	0	0	0	1	0	2	1	2	1	2	1	4	1	2	1	7	7			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr8:87660049T>C	ENST00000320005.5	-	8	1017	c.970A>G	c.(970-972)Aga>Gga	p.R324G		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	324					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTATTTGCTCTAAACATTGGA	0.294																																						.											0													99	97	98					8																	87660049		2203	4298	6501	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.970A>G	8.37:g.87660049T>C	ENSP00000316605:p.Arg324Gly		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506625	0.64410	.	.	ENSG00000170289	ENST00000320005	D	0.98792	-5.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98737	1.0715	10	0.87932	D	0	.	13.385	0.60791	0.0:0.0:0.1308:0.8692	.	324;324	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	G	324	ENSP00000316605:R324G	ENSP00000316605:R324G	R	-	1	2	CNGB3	87729165	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.316000	0.51960	2.270000	0.75569	0.482000	0.46254	AGA		0.294	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		C	87660049	T	C	87660049	3	2	37	1	0	0	0	0	1	0	0	0	3601	1530	53	2	1503	2	CNGB3	8	87660049	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	62456960	87660049	58703973	30	2685											
ORM1	5004	broad.mit.edu	37	chr9	117088629	117088629	+	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	agaggaaacaggaggaggggGaatcctagcaggacacagcc	15	2	16	8	0	0	1	0	0	0	1	1	6	1	6	2	6	3	1	2	6	3	1			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr9:117088629G>A	ENST00000259396.8	+	6	676	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	200					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	GGAGGAGGGGGAATCCTAGCA	0.567																																						.											0													10	14	13					9																	117088629		2135	4212	6347	SO:0001583	missense	5004				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"Lipocalins"	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.598G>A	9.37:g.117088629G>A	ENSP00000259396:p.Glu200Lys		B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	ENST00000259396.8	37	CCDS6803.1	.	.	.	.	.	.	.	.	.	.	-	8.126	0.781943	0.16189	.	.	ENSG00000229314	ENST00000259396	T	0.09538	2.97	2.31	1.4	0.22301	.	4.185410	0.00481	N	0.000130	T	0.10423	0.0255	L	0.37630	1.12	0.09310	N	0.999999	B	0.21821	0.061	B	0.11329	0.006	T	0.27938	-1.0059	10	0.45353	T	0.12	3.0E-4	5.045	0.14479	0.1769:0.0:0.8231:0.0	.	200	P02763	A1AG1_HUMAN	K	200	ENSP00000259396:E200K	ENSP00000259396:E200K	E	+	1	0	ORM1	116128450	0.007000	0.16637	0.000000	0.03702	0.263000	0.26337	1.175000	0.31944	0.539000	0.28788	0.164000	0.16699	GAA		0.567	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			A	117088629	G	A	117088629	3	1	37	1	0	0	0	0	1	0	0	0	11267	1175	41	3	620	3	ORM1	9	117088629	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10		117088629	24124802	31	2686											
TFAM	7019	ucsc.edu	37	chr10	60148464	60148464	+	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	ttatagggcggagtggcaggTatataaagaagagataagca	16	8	14	3	1	0	2	0	0	0	2	0	4	0	3	0	4	1	3	0	4	8	6	rs77418790		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr10:60148464T>G	ENST00000487519.1	+	4	852	c.326T>G	c.(325-327)gTa>gGa	p.V109G	TFAM_ENST00000373895.3_Missense_Mutation_p.V109G|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	109					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GAGTGGCAGGTATATAAAGAA	0.348																																						.											0																																										SO:0001583	missense	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.326T>G	10.37:g.60148464T>G	ENSP00000420588:p.Val109Gly		A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	ENST00000487519.1	37	CCDS7253.1	.	.	.	.	.	.	.	.	.	.	T	9.686	1.150562	0.21371	.	.	ENSG00000108064	ENST00000487519;ENST00000373895	D;D	0.97941	-4.62;-4.62	5.93	-1.14	0.09741	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.851711	0.10843	N	0.627976	D	0.95815	0.8638	M	0.66939	2.045	0.26014	N	0.981958	P;P	0.48694	0.811;0.914	B;P	0.45167	0.433;0.472	D	0.90352	0.4367	10	0.33940	T	0.23	.	6.2978	0.21095	0.0:0.4583:0.1274:0.4143	.	109;109	A8MRB2;Q00059	.;TFAM_HUMAN	G	109	ENSP00000420588:V109G;ENSP00000363002:V109G	ENSP00000363002:V109G	V	+	2	0	TFAM	59818470	0.014000	0.17966	0.565000	0.28409	0.047000	0.14425	-0.297000	0.08276	-0.097000	0.12307	-0.242000	0.12053	GTA		0.348	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		G	60148464	T	G	60148464	3	3	37	1	0	0	0	0	1	0	0	0	15783	1638	57	5	340	5	TFAM	10	60148464	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10		60148464	75386283	32	2687											
TYSND1	219743	mdanderson.org	37	chr10	71905695	71905695	+	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	ccgcagaccagcaatggcgcAcccttgggcacggccccgag	8	3	13	17	4	0	1	0	0	0	1	0	2	0	1	5	3	1	4	5	3	1	1	rs35587847|rs10999158	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr10:71905695A>G	ENST00000287078.6	-	1	647	c.648T>C	c.(646-648)ggT>ggC	p.G216G	TYSND1_ENST00000335494.5_Silent_p.G216G|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	216					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						GCAATGGCGCACCCTTGGGCA	0.701													G|||	1634	0.326278	0.3775	0.2911	5008	,	,		12458	0.0615		0.4791	False		,,,				2504	0.3978					.											0								G	,	1632,2678		358,916,881	11	13	12		648,648	0.9	1	10	dbSNP_120	12	3557,4851		845,1867,1492	no	coding-synonymous,coding-synonymous	TYSND1	NM_001040273.1,NM_173555.2	,	1203,2783,2373	GG,GA,AA		42.3049,37.8654,40.8004	,	216/399,216/567	71905695	5189,7529	2155	4204	6359	SO:0001819	synonymous_variant	219743			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.648T>C	10.37:g.71905695A>G			Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Silent	SNP	ENST00000287078.6	37	CCDS31213.1																																																																																				0.701	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		G	71905695	A	G	71905695	2	3	37	1	0	0	0	0	0	0	0	1	16814	146	6	2		2	TYSND1	10	71905695	Silent	SNP	A	TCGA-KN-8422-01A-11D-2310-10	11757231	71905695	63629052	33	2688											
TBC1D12	23232	ucsc.edu	37	chr10	96163181	96163181	+	Missense_Mutation	SNP	T	T	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	tgggcttttctgacattcacTtcaactctcgcaacacgttc	8	14	6	13	2	4	1	2	1	2	0	6	1	4	1	0	1	2	3	0	1	2	5			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr10:96163181T>C	ENST00000225235.4	+	1	921	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	271							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TGACATTCACTTCAACTCTCG	0.731																																						.											0													8	11	10					10																	96163181		1754	3895	5649	SO:0001583	missense	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.811T>C	10.37:g.96163181T>C	ENSP00000225235:p.Phe271Leu		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	T	9.097	1.003103	0.19121	.	.	ENSG00000108239	ENST00000225235	T	0.03468	3.92	3.63	2.44	0.29823	.	2.556960	0.02013	N	0.047196	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40997	-0.9533	10	0.02654	T	1	1.4128	6.9045	0.24301	0.0:0.0:0.2373:0.7627	.	271	O60347	TBC12_HUMAN	L	271	ENSP00000225235:F271L	ENSP00000225235:F271L	F	+	1	0	TBC1D12	96153171	0.048000	0.20356	0.002000	0.10522	0.197000	0.23852	0.095000	0.15127	0.540000	0.28808	0.379000	0.24179	TTC		0.731	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			C	96163181	T	C	96163181	3	2	37	1	0	0	0	0	1	0	0	0	15598	1609	56	2	813	2	TBC1D12	10	96163181	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	24257486	96163181	39371566	34	2689											
MUC6	4588	mdanderson.org	37	chr11	1017530	1017530	+	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	gttgaggtgacttcaggatgGtgtgtggaggaagtgtgtga	8	12	19	2	0	1	3	1	3	0	0	1	6	1	6	0	5	0	1	0	5	1	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:1017530G>A	ENST00000421673.2	-	31	5321	c.5271C>T	c.(5269-5271)caC>caT	p.H1757H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1757	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)		CTTCAGGATGGTGTGTGGAGG	0.562																																						.											0													794	752	766					11																	1017530		2201	4294	6495	SO:0001819	synonymous_variant	4588			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.5271C>T	11.37:g.1017530G>A			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		A	1017530	G	A	1017530	2	1	37	1	0	0	0	0	0	0	0	1	9980	1252	44	3		3	MUC6	11	1017530	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10		1017530	133988986	35	2690											
MUC6	4588	mdanderson.org	37	chr11	1018394	1018394	+	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	ttggaggcagatgtggccatCtgtgcgtgggtaggggtgat	6	11	19	5	1	1	2	0	1	1	1	1	3	1	3	1	6	1	2	1	6	1	2	rs111444881		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:1018394C>T	ENST00000421673.2	-	31	4457	c.4407G>A	c.(4405-4407)caG>caA	p.Q1469Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1469	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)		ATGTGGCCATCTGTGCGTGGG	0.567																																						.											0													271	265	267					11																	1018394		2190	4284	6474	SO:0001819	synonymous_variant	4588			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.4407G>A	11.37:g.1018394C>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1018394	C	T	1018394	2	4	37	1	0	0	0	0	0	0	0	1	9980	912	32	4		4	MUC6	11	1018394	Silent	SNP	C	TCGA-KN-8422-01A-11D-2310-10	864	1018394	133988122	36	2691											
EML3	256364	mdanderson.org	37	chr11	62378660	62378660	+	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	cctccttcagattgggtcccGctaggctcttcgctggcccc	3	11	10	17	2	2	1	1	0	1	1	5	1	4	1	5	3	0	3	5	3	1	4	rs12808829	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:62378660G>A	ENST00000394773.2	-	3	658	c.351C>T	c.(349-351)agC>agT	p.S117S	EML3_ENST00000278845.4_Silent_p.S118S|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000494176.2_Silent_p.S89S|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000529309.1_Silent_p.S117S|EML3_ENST00000531557.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	117						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATTGGGTCCCGCTAGGCTCTT	0.687													A|||	972	0.194089	0.1936	0.2032	5008	,	,		15245	0.0506		0.3161	False		,,,				2504	0.2106					.											0								A		926,3418		102,722,1348	11	14	13		351	-5.5	0.1	11	dbSNP_121	13	2990,5538		549,1892,1823	no	coding-synonymous	EML3	NM_153265.2		651,2614,3171	AA,AG,GG		35.061,21.3168,30.4226		117/897	62378660	3916,8956	2172	4264	6436	SO:0001819	synonymous_variant	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.351C>T	11.37:g.62378660G>A			Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	CCDS8023.2	472	0.21611721611721613	112	0.22764227642276422	91	0.2513812154696133	32	0.055944055944055944	237	0.31266490765171506	A	4.052	0.007268	0.07866	0.213168	0.35061	ENSG00000149499	ENST00000394776	.	.	.	5.05	-5.49	0.02584	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999872094	.	.	.	.	.	.	T	0.37865	-0.9687	3	.	.	.	-0.0522	7.3335	0.26596	0.2996:0.2839:0.4165:0.0	rs12808829	.	.	.	W	112	.	.	R	-	1	2	EML3	62135236	0.008000	0.16893	0.095000	0.20976	0.334000	0.28698	-0.688000	0.05150	-1.005000	0.03417	-0.521000	0.04368	CGG		0.687	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		A	62378660	G	A	62378660	2	1	37	1	0	0	0	0	0	0	0	1	5098	1078	38	1		1	EML3	11	62378660	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10	61360266	62378660	72627856	37	2692											
EFEMP2	30008	ucsc.edu	37	chr11	65635766	65635766	+	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	ctggcatcgaattgactcacTtctcagagacctggatgtag	10	11	10	10	1	2	2	2	1	1	1	4	5	2	3	1	2	0	2	1	2	2	3			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:65635766T>C	ENST00000307998.6	-	9	1204	c.974A>G	c.(973-975)aAc>aGc	p.N325S	EFEMP2_ENST00000528176.1_Splice_Site_p.N325S|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	325	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		ATTGACTCACTTCTCAGAGAC	0.602																																						.											0													37	36	36					11																	65635766		2201	4296	6497	SO:0001630	splice_region_variant	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.974+1A>G	11.37:g.65635766T>C			A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	T	9.495	1.101722	0.20632	.	.	ENSG00000172638	ENST00000531645;ENST00000528176;ENST00000307998	D;D;D	0.91740	-2.9;-2.9;-2.9	4.82	4.82	0.62117	Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.53938	D	0.000051	D	0.89842	0.6832	L	0.48877	1.53	0.58432	D	0.999998	P;P	0.40731	0.63;0.728	B;B	0.43728	0.191;0.429	D	0.88380	0.3001	9	.	.	.	.	12.3479	0.55132	0.0:0.0:0.0:1.0	.	325;325	E9PRU1;O95967	.;FBLN4_HUMAN	S	41;325;325	ENSP00000436521:N41S;ENSP00000434151:N325S;ENSP00000309953:N325S	.	N	-	2	0	EFEMP2	65392342	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	5.764000	0.68826	1.814000	0.52955	0.374000	0.22700	AAC		0.602	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938	Missense_Mutation	C	65635766	T	C	65635766	5	2	37	1	0	0	0	0	0	0	1	0	4942	1623	56	2	369	2	EFEMP2	11	65635766	Splice_Site	SNP	T	TCGA-KN-8422-01A-11D-2310-10	3257106	65635766	69370750	38	2693											
PPFIA1	8500	ucsc.edu	37	chr11	70178163	70178163	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacgctcccggaggtggAggcggagctggcccagaggg	8	3	20	10	3	0	2	0	0	0	2	1	6	1	5	2	7	1	2	2	7	0	0			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:70178163A>G	ENST00000253925.7	+	9	1390	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E392G|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	392					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)			CCGGAGGTGGAGGCGGAGCTG	0.572																																						.											0													107	103	105					11																	70178163		2200	4294	6494	SO:0001583	missense	8500			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.1175A>G	11.37:g.70178163A>G	ENSP00000253925:p.Glu392Gly		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	A	31	5.069588	0.93950	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.37915	1.17;1.17	5.13	5.13	0.70059	.	0.000000	0.85682	U	0.000000	T	0.66781	0.2824	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.75365	-0.3343	10	0.87932	D	0	.	14.9748	0.71264	1.0:0.0:0.0:0.0	.	392;392	Q13136;Q13136-2	LIPA1_HUMAN;.	G	392	ENSP00000253925:E392G;ENSP00000374198:E392G	ENSP00000253925:E392G	E	+	2	0	PPFIA1	69855811	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.116000	0.94341	1.931000	0.55961	0.533000	0.62120	GAG		0.572	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		G	70178163	A	G	70178163	3	3	37	1	0	0	0	0	1	0	0	0	12309	304	11	2	1205	2	PPFIA1	11	70178163	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	4542397	70178163	64828353	39	2694											
FOLH1B	219595	broad.mit.edu;mdanderson.org	37	chr11	89421805	89421805	+	RNA	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	ggtgttcttccaacgacttgGaattgcttcaggcagagcac	9	11	11	10	1	2	1	1	0	1	1	3	3	3	2	1	3	3	4	1	3	2	5			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:89421805G>C	ENST00000532352.1	+	0	1475							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAACGACTTGGAATTGCTTCA	0.299																																						.											0													61	69	66					11																	89421805		2196	4294	6490			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89421805G>C				Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.299	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		C	89421805	G	C	89421805	1	2	37	0	1	0	0	0	0	0	0	0	5980	1174	41	5		5	FOLH1B	11	89421805	RNA	SNP	G	TCGA-KN-8422-01A-11D-2310-10	19243642	89421805	45584711	40	2695											
PGR	5241	broad.mit.edu	37	chr11	100999089	100999089	+	Frame_Shift_Del	DEL	T	T	-																															ccagagcccgaggtttgcccTtcagaagcggacccgcagac																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:100999089delT	ENST00000325455.5	-	1	2166	c.713delA	c.(712-714)aagfs	p.K238fs	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Frame_Shift_Del_p.K238fs	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	238	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)	AGGTTTGCCCTTCAGAAGCGG	0.721																																					Pancreas(124;2271 2354 21954 22882)	.											0													9	11	11					11																	100999089		2129	4263	6392	SO:0001589	frameshift_variant	5241			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.713delA	11.37:g.100999089delT	ENSP00000325120:p.Lys238fs		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Frame_Shift_Del	DEL	ENST00000325455.5	37	CCDS8310.1																																																																																				0.721	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			-	100999089	T	-	100999089	7	5	37	1	0	1	0	1	0	0	0	0	11805	1609	56	0	2120	0	PGR	11	100999089	Frame_Shift_Del	DEL	T	TCGA-KN-8422-01A-11D-2310-10	11577284	100999089	34007427	41	2696											
CEP164	22897	hgsc.bcm.edu;mdanderson.org	37	chr11	117214946	117214946	+	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	gaaccagaactgatgtggctGgcgcgagagggcatcgtggc	9	6	17	9	3	0	3	0	1	0	2	1	5	0	3	1	4	2	2	1	4	2	0			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr11:117214946G>T	ENST00000278935.3	+	4	294	c.147G>T	c.(145-147)ctG>ctT	p.L49L		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	49	Interaction with ATRIP.				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)		TGATGTGGCTGGCGCGAGAGG	0.557																																						.											0													41	38	39					11																	117214946		2201	4296	6497	SO:0001819	synonymous_variant	22897			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.147G>T	11.37:g.117214946G>T			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	CCDS31683.1																																																																																				0.557	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		T	117214946	G	T	117214946	2	4	37	1	0	0	0	0	0	0	0	1	3249	1335	47	5		5	CEP164	11	117214946	Silent	SNP	G	TCGA-KN-8422-01A-11D-2310-10	16215857	117214946	17791570	42	2697											
TAS2R31	259290	mdanderson.org	37	chr12	11183066	11183066	+	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	cttgccgcaaaactgaaagaAaagtctgctttagcttcttg	12	12	8	9	1	2	2	0	1	2	1	2	2	2	2	1	0	4	3	1	0	6	5	rs138895028		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr12:11183066A>T	ENST00000390675.2	-	1	940	c.869T>A	c.(868-870)tTt>tAt	p.F290Y	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	290					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)|lung(6)	7						AACTGAAAGAAAAGTCTGCTT	0.428																																						.											0													205	208	207					12																	11183066		1976	4186	6162	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.869T>A	12.37:g.11183066A>T	ENSP00000375093:p.Phe290Tyr		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	11.50	1.657910	0.29425	.	.	ENSG00000256436	ENST00000390675	T	0.42131	0.98	2.41	2.41	0.29592	.	.	.	.	.	T	0.43787	0.1263	M	0.81614	2.55	0.09310	N	1	P	0.35944	0.529	B	0.37451	0.25	T	0.36866	-0.9730	9	0.42905	T	0.14	.	6.6503	0.22959	1.0:0.0:0.0:0.0	.	290	P59538	T2R31_HUMAN	Y	290	ENSP00000375093:F290Y	ENSP00000375093:F290Y	F	-	2	0	TAS2R31	11074333	0.000000	0.05858	0.003000	0.11579	0.127000	0.20565	0.972000	0.29409	1.128000	0.42052	0.155000	0.16302	TTT		0.428	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		T	11183066	A	T	11183066	3	4	37	1	0	0	0	0	1	0	0	0	15571	14	1	5	64	5	TAS2R31	12	11183066	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10		11183066	122668829	43	2698											
TAS2R31	259290	mdanderson.org	37	chr12	11183496	11183496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatctctttcatgtttaTcacaaaaagttgacaagcca	15	13	4	9	0	3	1	2	1	1	0	4	1	3	1	1	0	2	2	1	0	6	5	rs199736450		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr12:11183496T>C	ENST00000390675.2	-	1	510	c.439A>G	c.(439-441)Ata>Gta	p.I147V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	147					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)|lung(6)	7						TTCATGTTTATCACAAAAAGT	0.383																																						.											0													78	80	79					12																	11183496		2077	4242	6319	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.439A>G	12.37:g.11183496T>C	ENSP00000375093:p.Ile147Val		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	0.060	-1.225300	0.01530	.	.	ENSG00000256436	ENST00000390675	T	0.00792	5.69	2.45	-4.89	0.03103	.	.	.	.	.	T	0.00468	0.0015	N	0.11818	0.18	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.43114	-0.9411	9	0.17832	T	0.49	.	4.2721	0.10792	0.1787:0.2132:0.0:0.6081	.	147	P59538	T2R31_HUMAN	V	147	ENSP00000375093:I147V	ENSP00000375093:I147V	I	-	1	0	TAS2R31	11074763	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.931000	0.01556	-1.115000	0.02973	-1.140000	0.01884	ATA		0.383	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		C	11183496	T	C	11183496	3	2	37	1	0	0	0	0	1	0	0	0	15571	1435	50	4	494	4	TAS2R31	12	11183496	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10	430	11183496	122668399	44	2699											
MLL2	8085	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	49432249	49432249	+	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	gctcgacgggggccggttgaCcagctccaaaccagttggca	8	6	14	13	3	0	1	0	1	0	0	2	2	1	1	4	4	2	5	4	4	1	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr12:49432249C>A	ENST00000301067.7	-	34	8889	c.8890G>T	c.(8890-8892)Gtc>Ttc	p.V2964F	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2964	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)										GGCCGGTTGACCAGCTCCAAA	0.607																																						.											0													69	75	73					12																	49432249		1922	4121	6043	SO:0001583	missense	8085			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.8890G>T	12.37:g.49432249C>A	ENSP00000301067:p.Val2964Phe		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.138	1.013049	0.19277	.	.	ENSG00000167548	ENST00000301067	T	0.79454	-1.27	5.73	5.73	0.89815	.	0.000000	0.34906	N	0.003589	T	0.60064	0.2240	N	0.08118	0	0.25068	N	0.991018	P	0.44195	0.828	B	0.38880	0.284	T	0.62770	-0.6784	10	0.87932	D	0	.	13.4164	0.60972	0.0:0.8427:0.1573:0.0	.	2964	O14686	MLL2_HUMAN	F	2964	ENSP00000301067:V2964F	ENSP00000301067:V2964F	V	-	1	0	MLL2	47718516	0.444000	0.25649	1.000000	0.80357	0.865000	0.49528	1.100000	0.31025	2.882000	0.98803	0.655000	0.94253	GTC		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49432249	C	A	49432249	3	1	37	1	0	0	0	0	1	0	0	0	9621	507	18	5	7807	5	MLL2	12	49432249	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	38248753	49432249	84419646	45	2700											
SMARCC2	6601	hgsc.bcm.edu	37	chr12	56565715	56565715	+	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	ccagtcatctttgtacatttCcagtgcctggtggtagtggt	6	15	11	9	0	2	0	1	0	1	0	3	0	3	0	3	3	2	2	3	3	2	4			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr12:56565715C>T	ENST00000267064.4	-	20	1926	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	SMARCC2_ENST00000394023.3_Missense_Mutation_p.E645K|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E645K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E645K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	614	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E614K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGTACATTTCCAGTGCCTGG	0.507																																						.											1	Substitution - Missense(1)	skin(1)											77	65	69					12																	56565715		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1840G>A	12.37:g.56565715C>T	ENSP00000267064:p.Glu614Lys		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798517	0.90538	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	3.89	3.0	0.34707	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.122444	0.52532	D	0.000069	T	0.38134	0.1029	L	0.61387	1.9	0.58432	D	0.999994	B;B;B;B;B	0.33345	0.409;0.356;0.409;0.409;0.356	B;B;B;B;B	0.30572	0.117;0.071;0.117;0.117;0.115	T	0.40308	-0.9570	10	0.56958	D	0.05	-11.0784	11.0341	0.47791	0.0:0.9047:0.0:0.0953	.	534;645;649;614;645	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	645;645;645;614	ENSP00000377591:E645K;ENSP00000449396:E645K;ENSP00000302919:E645K;ENSP00000267064:E614K	ENSP00000267064:E614K	E	-	1	0	SMARCC2	54851982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	1.211000	0.43351	0.655000	0.94253	GAA		0.507	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			T	56565715	C	T	56565715	3	4	37	1	0	0	0	0	1	0	0	0	14776	864	30	3	1840	3	SMARCC2	12	56565715	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	7133466	56565715	77286180	46	2701											
MPHOSPH8	54737	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr13	20220943	20220943	+	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	atttaaagacgaaaacaagaGaagatcccaaagaaaataga	24	5	7	5	1	0	5	0	0	0	5	1	7	1	5	1	0	1	0	1	0	10	3			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr13:20220943G>C	ENST00000361479.5	+	3	798	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E244Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	244	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		gaaaacaagagaagatcccaa	0.313																																						.											0													24	28	27					13																	20220943		2135	4255	6390	SO:0001583	missense	54737			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.730G>C	13.37:g.20220943G>C	ENSP00000355388:p.Glu244Gln		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186009	0.78789	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.38887	1.11;1.11	6.02	6.02	0.97574	.	0.778438	0.12648	N	0.450698	T	0.62380	0.2423	L	0.56769	1.78	0.58432	D	0.999996	D;D;D	0.67145	0.987;0.996;0.993	P;P;P	0.61658	0.638;0.892;0.782	T	0.58103	-0.7695	10	0.56958	D	0.05	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	244;244;244	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	Q	244	ENSP00000414663:E244Q;ENSP00000355388:E244Q	ENSP00000355388:E244Q	E	+	1	0	MPHOSPH8	19118943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.921000	0.70028	2.857000	0.98124	0.650000	0.86243	GAA		0.313	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		C	20220943	G	C	20220943	3	2	37	1	0	0	0	0	1	0	0	0	9727	943	33	5	740	5	MPHOSPH8	13	20220943	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10		20220943	94948935	47	2702											
SRP14	6727	broad.mit.edu	37	chr15	40328594	40328595	+	In_Frame_Ins	INS	-	-	GGG																															gtgctgttgctgctgcggcaINSggtgctgctgctgctgctgc																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr15:40328594_40328595insGGG	ENST00000267884.6	-	5	421_422	c.350_351insCCC	c.(349-351)cct>ccCCCt	p.117_117P>PP	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Ins_p.37_37P>PP|SRP14_ENST00000558720.1_In_Frame_Ins_p.37_37P>PP|SRP14-AS1_ENST00000504245.1_lincRNA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	117	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|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)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgctgcggcaggtgctgctgc	0.48																																						.											0																																										SO:0001652	inframe_insertion	6727				CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.350_351insCCC	15.37:g.40328594_40328595insGGG	ENSP00000267884:p.Pro117dup		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Ins	INS	ENST00000267884.6	37	CCDS42017.1																																																																																				0.48	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		GGG	40328595	-	GGG	40328594	7	5	37	1	0	1	1	0	0	0	0	0	15152	175	7	0	63	0	SRP14	15	40328594	In_Frame_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10		40328594	62202798	48	2703											
GOLGA6A	342096	mdanderson.org	37	chr15	74363307	74363307	+	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	ctgctgtacagtggggttgtCatggggagaaccctccctgg	6	10	15	10	0	1	1	1	0	0	1	2	2	2	1	2	5	3	3	2	5	2	2	rs201661955		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr15:74363307C>T	ENST00000290438.3	-	18	2066	c.2026G>A	c.(2026-2028)Gac>Aac	p.D676N	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	676						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GTGGGGTTGTCATGGGGAGAA	0.587																																						.											0													29	30	29					15																	74363307		1471	3135	4606	SO:0001583	missense	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.2026G>A	15.37:g.74363307C>T	ENSP00000290438:p.Asp676Asn		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983824	0.35036	.	.	ENSG00000159289	ENST00000290438	T	0.23754	1.89	0.856	0.856	0.19019	.	.	.	.	.	T	0.42449	0.1203	M	0.66506	2.035	0.22081	N	0.999372	D	0.69078	0.997	D	0.73380	0.98	T	0.14254	-1.0479	9	0.38643	T	0.18	.	7.6108	0.28129	0.0:0.9999:0.0:1.0E-4	.	676	Q9NYA3	GOG6A_HUMAN	N	676	ENSP00000290438:D676N	ENSP00000290438:D676N	D	-	1	0	GOLGA6A	72150360	0.983000	0.35010	0.319000	0.25293	0.013000	0.08279	2.223000	0.42936	0.770000	0.33336	0.162000	0.16502	GAC		0.587	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		T	74363307	C	T	74363307	3	4	37	1	0	0	0	0	1	0	0	0	6557	826	29	4	59	4	GOLGA6A	15	74363307	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	34034713	74363307	28168085	49	2704											
RGMA	56963	broad.mit.edu	37	chr15	93588500	93588500	+	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	cttctccttgcacttggccaCggctgtctcgtatgggaagg	5	12	12	12	2	2	0	0	0	2	0	4	1	2	1	2	4	1	3	2	4	2	4			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr15:93588500C>T	ENST00000329082.7	-	4	1352	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.V369M|RGMA_ENST00000425933.2_Missense_Mutation_p.V345M|RGMA_ENST00000556658.1_Missense_Mutation_p.V252M|RGMA_ENST00000542321.2_Missense_Mutation_p.V345M|RGMA_ENST00000543599.1_Missense_Mutation_p.V345M|RGMA_ENST00000538818.1_Missense_Mutation_p.V252M	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	361					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CACTTGGCCACGGCTGTCTCG	0.667																																						.											0																																										SO:0001583	missense	56963			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1081G>A	15.37:g.93588500C>T	ENSP00000330005:p.Val361Met		B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378059	0.24944	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	4.87	2.7	0.31948	Repulsive guidance molecule, C-terminal (1);	0.698695	0.14162	N	0.337299	T	0.67850	0.2937	N	0.08118	0	0.09310	N	1	B;B	0.18741	0.03;0.021	B;B	0.20184	0.016;0.028	T	0.55970	-0.8056	10	0.32370	T	0.25	-14.2297	6.0953	0.20017	0.0:0.6333:0.0:0.3667	.	369;361	G3V518;Q96B86	.;RGMA_HUMAN	M	345;345;361;345;252;369	ENSP00000442498:V345M;ENSP00000404442:V345M;ENSP00000330005:V361M;ENSP00000440025:V345M;ENSP00000442546:V252M;ENSP00000452126:V369M	ENSP00000330005:V361M	V	-	1	0	RGMA	91389504	0.013000	0.17824	0.916000	0.36221	0.692000	0.40212	2.102000	0.41796	1.033000	0.39918	0.491000	0.48974	GTG		0.667	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		T	93588500	C	T	93588500	3	4	37	1	0	0	0	0	1	0	0	0	13280	536	19	1	275	1	RGMA	15	93588500	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	19225193	93588500	8942892	50	2705											
SRRM2	23524	broad.mit.edu	37	chr16	2818052	2818053	+	Frame_Shift_Ins	INS	-	-	C																															ccccactctgatgtgggggaINSgccacctgcctctactgggg																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:2818052_2818053insC	ENST00000301740.8	+	11	8072_8073	c.7523_7524insC	c.(7522-7527)gagccafs	p.EP2508fs	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2508	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						GATGTGGGGGAGCCACCTGCCT	0.639																																						.											0																																										SO:0001589	frameshift_variant	23524			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	Exception_encountered	16.37:g.2818052_2818053insC	ENSP00000301740:p.Glu2508fs		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	CCDS32373.1																																																																																				0.639	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			C	2818053	-	C	2818052	7	5	37	1	0	1	1	0	0	0	0	0	15168	304	11	0	7561	0	SRRM2	16	2818052	Frame_Shift_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10		2818052	87536701	51	2706											
MEFV	4210	mdanderson.org	37	chr16	3304654	3304654	+	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	ctgcaccgcaggctggcagcTccgcccccgtacggccgagg	5	4	14	18	5	0	0	0	0	0	0	1	1	1	0	5	4	3	6	5	4	1	1	rs224224	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:3304654T>C	ENST00000219596.1	-	2	453	c.414A>G	c.(412-414)ggA>ggG	p.G138G	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	138			G -> A (association with renal amyloidosis). {ECO:0000269|PubMed:11139244}.		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						GGCTGGCAGCTCCGCCCCCGT	0.716													C|||	1936	0.386581	0.5257	0.5937	5008	,	,		11024	0.1587		0.4742	False		,,,				2504	0.1963					.											0								C	,	2119,2193		569,981,606	13	15	14		414,	-2.9	0	16	dbSNP_79	14	3830,4614		944,1942,1336	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1513,2923,1942	CC,CT,TT		45.3577,49.1419,46.6369	,	138/782,	3304654	5949,6807	2156	4222	6378	SO:0001819	synonymous_variant	4210			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.414A>G	16.37:g.3304654T>C			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																				0.716	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		C	3304654	T	C	3304654	2	2	37	1	0	0	0	0	0	0	0	1	9459	1538	54	2		2	MEFV	16	3304654	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	486602	3304654	87050099	52	2707											
FAM86A	196483	mdanderson.org	37	chr16	5141852	5141852	+	Silent	SNP	C	C	T																															gccatcagggtctccgccagCgcttcatacagctcgtccaa																								rs540885158	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	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					.											0													45	43	44					16																	5141852		2197	4300	6497	SO:0001819	synonymous_variant	196483			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			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	37	1	0	0	0	0	0	0	0	1	5643	755	27	1		1	FAM86A	16	5141852	Silent	SNP	C	TCGA-KN-8422-01A-11D-2310-10	1837198	5141852	85212901	53	2708	76	2									
FAM86A	196483	mdanderson.org	37	chr16	5141855	5141855	+	Silent	SNP	T	T	C																															atcagggtctccgccagcgcTtcatacagctcgtccaaagg																								rs529631996	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:5141855T>C	ENST00000427587.4	-	4	350	c.282A>G	c.(280-282)gaA>gaG	p.E94E	FAM86A_ENST00000458008.4_Intron|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	94						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CCGCCAGCGCTTCATACAGCT	0.572													t|||	30	0.00599042	0.0219	0.0014	5008	,	,		18725	0		0	False		,,,				2504	0					.											0													46	44	45					16																	5141855		2197	4300	6497	SO:0001819	synonymous_variant	196483			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.282A>G	16.37:g.5141855T>C			D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	CCDS10529.1																																																																																				0.572	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		C	5141855	T	C	5141855	2	2	37	1	0	0	0	0	0	0	0	1	5643	1606	56	2		2	FAM86A	16	5141855	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	3	5141855	85212898	54	2709	76	2									
CLEC18B	497190	mdanderson.org	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-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	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																																						.											6	Substitution - Missense(6)	kidney(6)											61	70	67					16																	74444923		2189	4246	6435	SO:0001583	missense	497190			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		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	37	1	0	0	0	0	1	0	0	0	3503	652	23	1	393	1	CLEC18B	16	74444923	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	69303068	74444923	15909830	55	2710											
WDR59	79726	mdanderson.org	37	chr16	74942828	74942828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtaggctctgtgggagAcaccgcccgatgcattgtca	8	8	14	11	3	2	1	1	0	1	1	2	4	2	2	2	3	1	3	2	3	1	2	rs201965155	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:74942828A>G	ENST00000262144.6	-	17	1820	c.1690T>C	c.(1690-1692)Tct>Cct	p.S564P		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	564										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCTGTGGGAGACACCGCCCGA	0.567																																						.											0								A	PRO/SER	1,4395	2.1+/-5.4	0,1,2197	84	72	76		1690	5.4	1	16		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WDR59	NM_030581.3	74	0,2,6496	GG,GA,AA		0.0116,0.0227,0.0154	benign	564/975	74942828	2,12994	2198	4300	6498	SO:0001583	missense	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1690T>C	16.37:g.74942828A>G	ENSP00000262144:p.Ser564Pro		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595306	0.46318	2.27E-4	1.16E-4	ENSG00000103091	ENST00000262144	T	0.69435	-0.4	5.45	5.45	0.79879	.	0.052446	0.85682	D	0.000000	T	0.50582	0.1624	N	0.14661	0.345	0.50632	D	0.99988	B	0.02656	0.0	B	0.04013	0.001	T	0.43829	-0.9367	10	0.29301	T	0.29	-21.7048	15.8122	0.78573	1.0:0.0:0.0:0.0	.	564	Q6PJI9	WDR59_HUMAN	P	564	ENSP00000262144:S564P	ENSP00000262144:S564P	S	-	1	0	WDR59	73500329	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.070000	0.71220	2.200000	0.70718	0.477000	0.44152	TCT		0.567	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		G	74942828	A	G	74942828	3	3	37	1	0	0	0	0	1	0	0	0	17305	275	10	2	1274	2	WDR59	16	74942828	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	497905	74942828	15411925	56	2711			2	25		3	3	38	N	T_A	3.213353e-09
WDR59	79726	mdanderson.org	37	chr16	74942844	74942844	+	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	ggagacaccgcccgatgcatTgtcatgggccttgtgaaata	10	9	12	10	2	1	2	1	1	0	1	1	4	1	2	3	2	1	1	3	2	2	3	rs147993698	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:74942844T>C	ENST00000262144.6	-	17	1804	c.1674A>G	c.(1672-1674)acA>acG	p.T558T		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	558										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCGATGCATTGTCATGGGCC	0.567													C|||	77	0.0153754	0.0325	0.0086	5008	,	,		17777	0.0079		0.0099	False		,,,				2504	0.0102					.											0													91	80	84					16																	74942844		2198	4300	6498	SO:0001819	synonymous_variant	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1674A>G	16.37:g.74942844T>C			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.567	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74942844	T	C	74942844	2	2	37	1	0	0	0	0	0	0	0	1	17305	1799	63	4		4	WDR59	16	74942844	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	16	74942844	15411909	57	2712			2	25		3	3	38	N	T_A	3.213353e-09
WDR59	79726	mdanderson.org	37	chr16	74942865	74942865	+	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	gtcatgggccttgtgaaataTaccaggtaacctaaaggagg	13	9	12	7	0	1	1	1	1	0	0	1	2	1	2	3	4	2	1	3	4	6	5	rs141093453	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:74942865T>C	ENST00000262144.6	-	17	1783	c.1653A>G	c.(1651-1653)gtA>gtG	p.V551V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	551										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTGAAATATACCAGGTAAC	0.547																																						.											0													90	79	83					16																	74942865		2198	4300	6498	SO:0001819	synonymous_variant	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1653A>G	16.37:g.74942865T>C			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.547	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74942865	T	C	74942865	2	2	37	1	0	0	0	0	0	0	0	1	17305	1393	49	4		4	WDR59	16	74942865	Silent	SNP	T	TCGA-KN-8422-01A-11D-2310-10	21	74942865	15411888	58	2713			2	25		3	3	38	N	T_A	3.213353e-09
CDH13	1012	broad.mit.edu	37	chr16	83636109	83636110	+	Frame_Shift_Ins	INS	-	-	G																															tcgaggctcaagatatggctINSggactggatgttggattaac																										TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr16:83636109_83636110insG	ENST00000566620.1	+	8	1301_1302	c.1011_1012insG	c.(1012-1014)ggafs	p.G338fs	CDH13_ENST00000268613.10_Frame_Shift_Ins_p.G385fs|CDH13_ENST00000428848.3_Frame_Shift_Ins_p.G299fs	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	338	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGATATGGCTGGACTGGATGT	0.421																																						.											0																																										SO:0001589	frameshift_variant	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1013dupG	16.37:g.83636111_83636111dupG	ENSP00000454435:p.Gly338fs		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Frame_Shift_Ins	INS	ENST00000566620.1	37	CCDS58486.1																																																																																				0.421	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		G	83636110	-	G	83636109	7	5	37	1	0	1	1	0	0	0	0	0	3099	1567	55	0	1041	0	CDH13	16	83636109	Frame_Shift_Ins	INS	-	TCGA-KN-8422-01A-11D-2310-10	8693244	83636109	6718644	59	2714											
SPAG5	10615	broad.mit.edu	37	chr17	26919762	26919762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctctcaccagatcgTctgttctcaaaggtccattt	7	14	5	15	1	4	1	2	0	3	1	9	1	6	1	4	1	0	1	4	1	1	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr17:26919762T>C	ENST00000321765.5	-	3	832	c.500A>G	c.(499-501)gAc>gGc	p.D167G		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	167					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)					CACCAGATCGTCTGTTCTCAA	0.478																																						.											0													149	146	147					17																	26919762		2203	4300	6503	SO:0001583	missense	10615			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.500A>G	17.37:g.26919762T>C	ENSP00000323300:p.Asp167Gly		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	T	2.541	-0.306243	0.05458	.	.	ENSG00000076382	ENST00000321765	T	0.18810	2.19	5.94	-1.78	0.07957	.	0.956671	0.08687	N	0.908487	T	0.03739	0.0106	N	0.00162	-1.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	10	0.17369	T	0.5	0.0	6.4053	0.21660	0.0:0.4283:0.1351:0.4366	.	167	Q96R06	SPAG5_HUMAN	G	167	ENSP00000323300:D167G	ENSP00000323300:D167G	D	-	2	0	SPAG5	23943889	0.001000	0.12720	0.068000	0.19968	0.132000	0.20833	-1.047000	0.03521	-0.106000	0.12110	-0.132000	0.14878	GAC		0.478	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		C	26919762	T	C	26919762	3	2	37	1	0	0	0	0	1	0	0	0	14981	1667	58	2	3169	2	SPAG5	17	26919762	Missense_Mutation	SNP	T	TCGA-KN-8422-01A-11D-2310-10		26919762	54275448	60	2715											
ADCYAP1	116	mdanderson.org	37	chr18	907710	907710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccgctgccagacttcgAtggctcggagccgccgggcg	7	5	14	15	6	0	1	0	0	0	1	2	3	0	2	4	3	3	2	4	3	1	1	rs2856966	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr18:907710A>G	ENST00000579794.1	+	2	439	c.161A>G	c.(160-162)gAt>gGt	p.D54G	RP11-672L10.2_ENST00000581719.2_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.D54G|RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	54			D -> G (in dbSNP:rs2856966). {ECO:0000269|PubMed:11968092, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1730060, ECO:0000269|PubMed:1739432}.		activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCAGACTTCGATGGCTCGGAg	0.736													A|||	721	0.14397	0.0953	0.1527	5008	,	,		7649	0.0565		0.2495	False		,,,				2504	0.1851					.											0								A	GLY/ASP,GLY/ASP	372,3918		17,338,1790	6	8	7		161,161	4	0.2	18	dbSNP_100	7	1799,6595		196,1407,2594	yes	missense,missense	ADCYAP1	NM_001099733.1,NM_001117.3	94,94	213,1745,4384	GG,GA,AA		21.432,8.6713,17.1161	benign,benign	54/177,54/177	907710	2171,10513	2145	4197	6342	SO:0001583	missense	116			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"Endogenous ligands"	241	protein-coding gene	gene with protein product	"prepro-PACAP"	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.161A>G	18.37:g.907710A>G	ENSP00000462647:p.Asp54Gly		B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	CCDS11825.1	321	0.14697802197802198	55	0.11178861788617886	62	0.1712707182320442	34	0.05944055944055944	170	0.22427440633245382	A	1.915	-0.449794	0.04572	0.086713	0.21432	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	3.95	3.95	0.45737	.	0.459988	0.24710	N	0.036227	T	0.00012	0.0000	N	0.08118	0	0.52501	P	4.099999999995774E-5	B	0.09022	0.002	B	0.01281	0.0	T	0.13980	-1.0489	8	0.21014	T	0.42	.	7.8153	0.29256	0.9042:0.0:0.0958:0.0	rs2856966;rs58369534;rs2856966	54	P18509	PACA_HUMAN	G	193;54;54	.	ENSP00000269200:D54G	D	+	2	0	ADCYAP1	897710	0.778000	0.28640	0.216000	0.23742	0.004000	0.04260	1.322000	0.33689	2.019000	0.59389	0.379000	0.24179	GAT		0.736	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		G	907710	A	G	907710	3	3	37	1	0	0	0	0	1	0	0	0	302	333	12	4	167	4	ADCYAP1	18	907710	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10		907710	77169538	61	2716											
MAST1	1777	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	12985463	12985463	+	IGR	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	tgagcggtcctcgctccaagCccgcctccccaaagctctcc	6	7	8	20	3	1	1	0	1	1	0	6	1	4	1	7	1	3	2	7	1	2	0			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:12985463C>A	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Missense_Mutation_p.P1498T	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						TCGCTCCAAGCCCGCCTCCCC	0.721																																						.											0													21	19	20					19																	12985463		2195	4294	6489	SO:0001628	intergenic_variant	22983			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12985463C>A			B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033777	0.35893	.	.	ENSG00000105613	ENST00000251472	T	0.66995	-0.24	5.49	5.49	0.81192	.	0.520555	0.17475	N	0.172942	T	0.67107	0.2858	N	0.14661	0.345	0.44927	D	0.997947	D	0.89917	1.0	D	0.79108	0.992	T	0.61128	-0.7125	10	0.16896	T	0.51	-17.0268	14.8889	0.70590	0.0:1.0:0.0:0.0	.	1498	Q9Y2H9	MAST1_HUMAN	T	1498	ENSP00000251472:P1498T	ENSP00000251472:P1498T	P	+	1	0	MAST1	12846463	0.998000	0.40836	0.994000	0.49952	0.383000	0.30230	2.684000	0.46951	2.589000	0.87451	0.650000	0.86243	CCC		0.721	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			A	12985463	C	A	12985463	1	1	37	0	1	0	0	0	0	0	0	0	9324	739	26	5		5	MAST1	19	12985463	IGR	SNP	C	TCGA-KN-8422-01A-11D-2310-10		12985463	46143520	62	2717											
MYO9B	4650	broad.mit.edu	37	chr19	17321179	17321179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttttcgtctccctatgAgggggtcctggtatgtacgc	4	13	15	9	2	1	1	0	1	1	0	4	1	2	1	2	5	1	3	2	5	3	5			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:17321179A>G	ENST00000594824.1	+	37	5933	c.5786A>G	c.(5785-5787)gAg>gGg	p.E1929G	MYO9B_ENST00000397274.2_Missense_Mutation_p.E1929G|MYO9B_ENST00000595618.1_Missense_Mutation_p.E1929G|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1929	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						TCTCCCTATGAGGGGGTCCTG	0.632																																						.											0													79	78	78					19																	17321179		2027	4190	6217	SO:0001583	missense	4650				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.5786A>G	19.37:g.17321179A>G	ENSP00000471367:p.Glu1929Gly		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	A	23.8	4.457778	0.84317	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.85339	-1.97	4.86	4.86	0.63082	.	0.000000	0.49305	D	0.000144	D	0.89884	0.6844	L	0.56769	1.78	0.44668	D	0.997659	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.89121	0.3503	10	0.38643	T	0.18	.	13.6066	0.62050	1.0:0.0:0.0:0.0	.	1929;1935	Q13459;Q4LE74	MYO9B_HUMAN;.	G	1929;274	ENSP00000380444:E1929G	ENSP00000314032:E274G	E	+	2	0	MYO9B	17182179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.366000	0.79548	1.818000	0.53035	0.459000	0.35465	GAG		0.632	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			G	17321179	A	G	17321179	3	3	37	1	0	0	0	0	1	0	0	0	10085	304	11	2	5928	2	MYO9B	19	17321179	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	4335716	17321179	41807804	63	2718											
PSG9	5678	mdanderson.org	37	chr19	43763023	43763023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacagaggacatttaggAtgactgggttactgcggagg	11	9	14	7	1	1	2	1	1	0	1	1	5	1	5	0	5	2	1	0	5	2	3	rs1135905	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:43763023A>G	ENST00000270077.3	-	4	1070	c.974T>C	c.(973-975)aTc>aCc	p.I325T	PSG9_ENST00000443718.3_Missense_Mutation_p.I232T|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Missense_Mutation_p.I232T|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	325	Ig-like C2-type 2.		I -> T (in dbSNP:rs1135905).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GACATTTAGGATGACTGGGTT	0.502													A|||	285	0.0569089	0.0567	0.0403	5008	,	,		15899	0.0685		0.0487	False		,,,				2504	0.0654					.											0								A	THR/ILE	171,4097		36,99,1999	98	101	100		974	0.2	0	19	dbSNP_86	100	278,8278		25,228,4025	no	missense	PSG9	NM_002784.3	89	61,327,6024	GG,GA,AA		3.2492,4.0066,3.5012	benign	325/427	43763023	449,12375	2134	4278	6412	SO:0001583	missense	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.974T>C	19.37:g.43763023A>G	ENSP00000270077:p.Ile325Thr		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	106	0.048534798534798536	19	0.03861788617886179	19	0.052486187845303865	37	0.06468531468531469	31	0.040897097625329816	N	0	-2.853274	0.00066	0.040066	0.032492	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.11063	2.81;2.81	1.39	0.2	0.15181	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00210	0.0006	N	0.00101	-2.135	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.41610	-0.9499	9	0.02654	T	1	.	4.0401	0.09748	0.2545:0.0:0.7455:0.0	rs1135905;rs3179039;rs3198901;rs17420337	232;325	E7EW65;Q00887	.;PSG9_HUMAN	T	325;232;286	ENSP00000270077:I325T;ENSP00000396753:I232T	ENSP00000270077:I325T	I	-	2	0	PSG9	48454863	0.008000	0.16893	0.013000	0.15412	0.002000	0.02628	0.050000	0.14120	-0.070000	0.12908	-1.355000	0.01225	ATC		0.502	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		G	43763023	A	G	43763023	3	3	37	1	0	0	0	0	1	0	0	0	12662	333	12	4	318	4	PSG9	19	43763023	Missense_Mutation	SNP	A	TCGA-KN-8422-01A-11D-2310-10	26441844	43763023	15365960	64	2719											
TPRX1	284355	mdanderson.org	37	chr19	48305555	48305555	+	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	ctgagattgggcctgggatcGggcctgggttcgggcctgag	4	9	19	9	2	0	2	0	2	0	1	2	4	0	3	3	5	0	1	3	5	0	2	rs147380237		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:48305555G>A	ENST00000322175.3	-	2	868	c.713C>T	c.(712-714)cCg>cTg	p.P238L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P228L|TPRX1_ENST00000535759.1_Missense_Mutation_p.P335L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	238	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)		gcctgggatcgggcctgggtt	0.662																																					Esophageal Squamous(123;175 2281 3051 32395)	.											0													10	8	9					19																	48305555		2095	4129	6224	SO:0001583	missense	284355				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.713C>T	19.37:g.48305555G>A	ENSP00000323455:p.Pro238Leu		A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	24	0.01098901098901099	0	0.0	3	0.008287292817679558	0	0.0	21	0.027704485488126648	g	8.014	0.758252	0.15846	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.93659	-2.01;-3.26	0.495	0.495	0.16890	.	.	.	.	.	T	0.79936	0.4532	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.60286	0.872	T	0.76977	-0.2759	8	0.45353	T	0.12	.	.	.	.	.	238	Q8N7U7	TPRX1_HUMAN	L	238;335;228	ENSP00000323455:P238L;ENSP00000438832:P335L	ENSP00000323455:P238L	P	-	2	0	TPRX1	52997367	0.000000	0.05858	0.020000	0.16555	0.015000	0.08874	-2.180000	0.01258	0.561000	0.29186	0.420000	0.28162	CCG		0.662	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		A	48305555	G	A	48305555	3	1	37	1	0	0	0	0	1	0	0	0	16419	1116	39	1	526	1	TPRX1	19	48305555	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10	4542532	48305555	10823428	65	2720											
SIGLEC14	100049587	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	52149193	52149193	+	Missense_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	gggggctgagggcattccccGtccaggagaatgtgagaggt	8	7	18	8	1	0	3	0	2	0	2	2	5	2	3	3	5	0	2	3	5	1	1			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:52149193G>A	ENST00000360844.6	-	3	583	c.542C>T	c.(541-543)aCg>aTg	p.T181M	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_5'Flank	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	181	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T181M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGCATTCCCCGTCCAGGAGAA	0.657																																						.											2	Substitution - Missense(2)	ovary(2)																																								SO:0001583	missense	100049587			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.542C>T	19.37:g.52149193G>A	ENSP00000354090:p.Thr181Met		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	G	4.638	0.118691	0.08881	.	.	ENSG00000254415	ENST00000360844	D	0.86432	-2.12	3.09	-6.18	0.02085	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.183180	0.02203	N	0.062409	T	0.73401	0.3582	N	0.16266	0.395	0.09310	N	1	D	0.55172	0.97	P	0.45232	0.474	T	0.68712	-0.5336	10	0.07990	T	0.79	.	4.391	0.11341	0.5534:0.0:0.1647:0.2819	.	181	Q08ET2	SIG14_HUMAN	M	181	ENSP00000354090:T181M	ENSP00000354090:T181M	T	-	2	0	SIGLEC14	56841005	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-5.926000	0.00090	-1.582000	0.01640	0.508000	0.49915	ACG		0.657	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		A	52149193	G	A	52149193	3	1	37	1	0	0	0	0	1	0	0	0	14309	1145	40	1	668	1	SIGLEC14	19	52149193	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10	3843638	52149193	6979790	66	2721											
ZNF528	84436	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	52909852	52909852	+	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	gcagagtgaagagaaaatagCaaacgatccagacggcaggg	17	3	14	7	2	0	4	0	1	0	3	1	6	1	4	1	2	2	3	1	2	5	1			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:52909852C>T	ENST00000360465.3	+	6	653	c.227C>T	c.(226-228)gCa>gTa	p.A76V	ZNF528_ENST00000598192.1_Missense_Mutation_p.A76V|ZNF528_ENST00000391788.2_Missense_Mutation_p.A66V|ZNF528_ENST00000594530.1_Missense_Mutation_p.A76V	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAGAAAATAGCAAACGATCCA	0.463																																						.											0													103	99	100					19																	52909852		2203	4300	6503	SO:0001583	missense	84436			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.227C>T	19.37:g.52909852C>T	ENSP00000353652:p.Ala76Val		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818786	0.16607	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465	T;T;T	0.05199	5.56;5.63;3.48	1.47	-1.01	0.10169	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.47078	1.49	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.44832	-0.9302	9	0.22109	T	0.4	.	2.7793	0.05356	0.0:0.487:0.3032:0.2098	.	76	Q3MIS6	ZN528_HUMAN	V	66;76;76	ENSP00000375665:A66V;ENSP00000375664:A76V;ENSP00000353652:A76V	ENSP00000353652:A76V	A	+	2	0	ZNF528	57601664	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.449000	0.02392	-0.197000	0.10350	-0.373000	0.07131	GCA		0.463	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		T	52909852	C	T	52909852	3	4	37	1	0	0	0	0	1	0	0	0	17966	710	25	4	237	4	ZNF528	19	52909852	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10	760659	52909852	6219131	67	2722											
NLRP7	199713	hgsc.bcm.edu;mdanderson.org	37	chr19	55450827	55450827	+	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	ggagactctgtcctggcggaGgatgtctccgtccaggaaca	8	8	14	11	2	2	1	0	0	2	1	5	5	4	4	3	5	1	0	3	5	1	0			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr19:55450827G>A	ENST00000590030.1	-	3	1400	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F	NLRP7_ENST00000446217.1_Missense_Mutation_p.L482F|NLRP7_ENST00000340844.2_Missense_Mutation_p.L454F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L454F|NLRP7_ENST00000592784.1_Missense_Mutation_p.L454F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L454F|NLRP7_ENST00000588756.1_Missense_Mutation_p.L454F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	454	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCTGGCGGAGGATGTCTCCG	0.617																																						.											0													35	33	34					19																	55450827		2203	4296	6499	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1360C>T	19.37:g.55450827G>A	ENSP00000465520:p.Leu454Phe		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153871	0.38021	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.72615	-0.64;-0.64;-0.67;-0.62	1.92	0.761	0.18448	.	0.000000	0.30134	N	0.010329	T	0.68100	0.2964	L	0.52905	1.665	0.09310	N	1	P;P;P;P	0.52842	0.927;0.927;0.927;0.956	P;P;P;P	0.53593	0.685;0.542;0.542;0.73	T	0.57260	-0.7842	10	0.33940	T	0.23	.	5.2422	0.15477	0.0:0.0:0.6591:0.3409	.	482;454;454;454	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	F	454;454;454;482;221	ENSP00000329568:L454F;ENSP00000409137:L454F;ENSP00000339491:L454F;ENSP00000414273:L482F	ENSP00000329568:L454F	L	-	1	0	NLRP7	60142639	0.042000	0.20092	0.010000	0.14722	0.052000	0.14988	1.187000	0.32090	0.313000	0.23062	0.462000	0.41574	CTC		0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55450827	G	A	55450827	3	1	37	1	0	0	0	0	1	0	0	0	10482	1000	35	4	1785	4	NLRP7	19	55450827	Missense_Mutation	SNP	G	TCGA-KN-8422-01A-11D-2310-10	2540975	55450827	3678156	68	2723											
GART	2618	mdanderson.org	37	chr21	34903861	34903861	+	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	ccagctgccccaaaggctttCtcctgattgtaagatttttt	8	15	7	11	0	1	2	0	1	1	1	2	2	1	2	4	1	2	3	4	1	2	6	rs142038738		TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr21:34903861C>A	ENST00000381831.3	-	6	794	c.531G>T	c.(529-531)gaG>gaT	p.E177D	GART_ENST00000381815.4_Missense_Mutation_p.E177D|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Missense_Mutation_p.E177D|GART_ENST00000381839.3_Missense_Mutation_p.E177D	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	177	ATP-grasp.				'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)	CAAAGGCTTTCTCCTGATTGT	0.328													C|||	1	0.000199681	0	0.0014	5008	,	,		13906	0		0	False		,,,				2504	0					.											0								C	ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU	2,4404	4.2+/-10.8	0,2,2201	100	101	101		531,531,531,531	-3.2	0.9	21	dbSNP_134	101	16,8584	11.9+/-42.8	0,16,4284	yes	missense,missense,missense,missense	GART	NM_000819.4,NM_001136005.1,NM_001136006.1,NM_175085.2	45,45,45,45	0,18,6485	AA,AC,CC		0.186,0.0454,0.1384	benign,benign,benign,benign	177/1011,177/1011,177/1011,177/434	34903861	18,12988	2203	4300	6503	SO:0001583	missense	2618			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.531G>T	21.37:g.34903861C>A	ENSP00000371253:p.Glu177Asp		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	5.450	0.268162	0.10349	4.54E-4	0.00186	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.44482	1.53;1.53;1.53;1.54;0.94;0.92	6.07	-3.18	0.05186	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.172604	0.64402	N	0.000009	T	0.09818	0.0241	N	0.01003	-1.06	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09618	-1.0666	10	0.33141	T	0.24	-6.3852	0.8613	0.01194	0.4025:0.2436:0.1422:0.2117	.	177	P22102	PUR2_HUMAN	D	177	ENSP00000371236:E177D;ENSP00000371253:E177D;ENSP00000371261:E177D;ENSP00000354388:E177D;ENSP00000413040:E177D;ENSP00000398631:E177D	ENSP00000354388:E177D	E	-	3	2	GART	33825731	0.902000	0.30710	0.936000	0.37596	0.897000	0.52465	0.030000	0.13688	-0.809000	0.04381	0.650000	0.86243	GAG		0.328	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		A	34903861	C	A	34903861	3	1	37	1	0	0	0	0	1	0	0	0	6243	912	32	5	2573	5	GART	21	34903861	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10		34903861	13226034	69	2724											
SLC19A1	6573	mdanderson.org	37	chr21	46951556	46951556	+	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	cccagcttcccgcctgggccAggattcatgcgctccagctc	5	8	10	18	2	1	0	1	0	0	0	4	1	3	1	5	2	3	3	5	2	0	2	rs12659	byFrequency	TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chr21:46951556A>G	ENST00000311124.4	-	3	848	c.696T>C	c.(694-696)ccT>ccC	p.P232P	SLC19A1_ENST00000380010.4_Silent_p.P232P|SLC19A1_ENST00000485649.2_Silent_p.P192P|SLC19A1_ENST00000567670.1_Silent_p.P232P	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	232					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)	CGCCTGGGCCAGGATTCATGC	0.711													G|||	2770	0.553115	0.5189	0.5908	5008	,	,		12778	0.4752		0.5557	False		,,,				2504	0.6503					.											0								G	,,	2461,1943		713,1035,454	31	37	35		696,576,696	-6.6	0	21	dbSNP_52	35	4985,3615		1473,2039,788	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC19A1	NM_001205206.1,NM_001205207.1,NM_194255.2	,,	2186,3074,1242	GG,GA,AA		42.0349,44.119,42.7407	,,	232/490,192/552,232/592	46951556	7446,5558	2202	4300	6502	SO:0001819	synonymous_variant	6573			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.696T>C	21.37:g.46951556A>G			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	CCDS13725.1																																																																																				0.711	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			G	46951556	A	G	46951556	2	3	37	1	0	0	0	0	0	0	0	1	14428	175	7	2		2	SLC19A1	21	46951556	Silent	SNP	A	TCGA-KN-8422-01A-11D-2310-10	12047695	46951556	1178339	70	2725											
FAM9A	171482	broad.mit.edu	37	chrX	8767124	8767124	+	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	ctgtcctgggaagttagaggCgatccctgaacctggttgag	8	10	14	9	1	0	3	0	2	0	1	2	5	2	4	3	3	1	2	3	3	3	2			TCGA-KN-8422-01A-11D-2310-10	TCGA-KN-8422-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d648c804-4eaf-4252-8b6f-13378158a07d	e13915df-0ba2-4242-b4f7-27733b6a01c1	g.chrX:8767124C>T	ENST00000543214.1	-	3	238	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	FAM9A_ENST00000381003.3_Missense_Mutation_p.A35T	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	35						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				AAGTTAGAGGCGATCCCTGAA	0.542																																						.											0													55	42	46					X																	8767124		2202	4277	6479	SO:0001583	missense	171482				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.103G>A	X.37:g.8767124C>T	ENSP00000440163:p.Ala35Thr		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	4.889	0.165142	0.09339	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.439	-0.879	0.10613	.	.	.	.	.	T	0.20577	0.0495	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.45971	0.499	T	0.12243	-1.0555	7	0.48119	T	0.1	.	.	.	.	.	35	Q8IZU1	FAM9A_HUMAN	T	35	.	ENSP00000370391:A35T	A	-	1	0	FAM9A	8727124	0.184000	0.23200	0.002000	0.10522	0.002000	0.02628	0.759000	0.26461	-0.536000	0.06298	-0.544000	0.04233	GCC		0.542	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		T	8767124	C	T	8767124	3	4	37	1	0	0	0	0	1	0	0	0	5659	768	27	1	923	1	FAM9A	23	8767124	Missense_Mutation	SNP	C	TCGA-KN-8422-01A-11D-2310-10		8767124	146503436	71	2726											
NRD1	4898	mdanderson.org	37	chr1	52306079	52306079	+	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	catcatcttcttcttcttccTccacctcctcttcttcttca	4	19	0	18	0	9	0	2	0	7	0	12	0	12	0	4	0	0	0	4	0	0	7	rs62648104		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:52306079T>A	ENST00000354831.7	-	2	638	c.449A>T	c.(448-450)gAg>gTg	p.E150V	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.E18V|NRD1_ENST00000539524.1_Missense_Mutation_p.E18V|NRD1_ENST00000352171.7_Missense_Mutation_p.E150V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ttcttcttcctccacctcctc	0.378																																						.											0													163	138	146					1																	52306079		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.449A>T	1.37:g.52306079T>A	ENSP00000346890:p.Glu150Val		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	3.056	-0.194350	0.06259	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.38240	1.31;3.15;1.15;1.22	5.25	2.92	0.33932	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.525899	0.19688	N	0.108344	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23650	0.062;0.089;0.01	B;B;B	0.17098	0.017;0.007;0.007	T	0.14755	-1.0461	10	0.38643	T	0.18	-0.0317	5.1939	0.15225	0.0:0.1704:0.2022:0.6274	rs62648104	150;150;150	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	V	150;150;18;150;18	ENSP00000262679:E150V;ENSP00000346890:E150V;ENSP00000444416:E18V;ENSP00000442262:E18V	ENSP00000262679:E150V	E	-	2	0	NRD1	52078667	0.129000	0.22400	0.012000	0.15200	0.145000	0.21501	0.870000	0.28010	0.317000	0.23160	0.454000	0.30748	GAG		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		A	52306079	T	A	52306079	3	1	38	1	0	0	0	0	1	0	0	0	10645	1551	54	5	3338	5	NRD1	1	52306079	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10		52306079	196944542	1	2727											
MTX1	4580	mdanderson.org	37	chr1	155178782	155178782	+	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	cttggacgaggcgccgtgacActccgaggcgcgccgggccg	5	4	17	15	8	0	1	0	1	0	0	1	4	1	2	4	4	0	0	4	4	0	1	rs760077	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:155178782A>T	ENST00000368376.3	+	1	293	c.187A>T	c.(187-189)Act>Tct	p.T63S	MTX1_ENST00000609421.1_5'Flank|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000368378.3_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.T63S|THBS3_ENST00000457183.2_5'Flank|THBS3_ENST00000541990.1_5'Flank|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	63			T -> S (in dbSNP:rs760077). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	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)			GCGCCGTGACACTCCGAGGCG	0.761													T|||	3339	0.666733	0.6331	0.7608	5008	,	,		8727	0.7738		0.6054	False		,,,				2504	0.5982					.											0								T	SER/THR,SER/THR	2914,1394		1026,862,266	7	11	10		187,187	-2.4	0	1	dbSNP_86	10	5140,3348		1612,1916,716	yes	missense,missense	MTX1	NM_002455.3,NM_198883.2	58,58	2638,2778,982	TT,TA,AA		39.4439,32.3584,37.0585	benign,benign	63/467,63/436	155178782	8054,4742	2154	4244	6398	SO:0001583	missense	4580				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.187A>T	1.37:g.155178782A>T	ENSP00000357360:p.Thr63Ser		B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	CCDS1100.1	1515	0.6936813186813187	314	0.6382113821138211	252	0.6961325966850829	474	0.8286713286713286	475	0.6266490765171504	T	10.85	1.466570	0.26335	0.676416	0.605561	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.27890	1.64;1.64	4.25	-2.39	0.06602	.	0.398228	0.18519	N	0.138831	T	0.01320	0.0043	N	0.01168	-0.975	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22591	-1.0212	9	0.02654	T	1	-7.2218	0.3438	0.00338	0.2917:0.2744:0.1499:0.2841	rs760077;rs57404131	63;63	Q13505-2;Q13505	.;MTX1_HUMAN	S	63	ENSP00000357360:T63S;ENSP00000317106:T63S	ENSP00000317106:T63S	T	+	1	0	MTX1	153445406	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.293000	0.08320	-0.656000	0.05380	-0.257000	0.10917	ACT		0.761	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		T	155178782	A	T	155178782	3	4	38	1	0	0	0	0	1	0	0	0	9967	159	6	5	189	5	MTX1	1	155178782	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	102872703	155178782	94071839	2	2728											
HNRNPU	3192	broad.mit.edu	37	chr1	245022136	245022136	+	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	gaatacccataagaaaattcTtcttcacctaagaaaataat	19	11	3	8	0	3	2	1	0	2	2	3	3	3	2	2	0	1	0	2	0	9	7			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:245022136T>C	ENST00000283179.9	-	6	1288	c.1125A>G	c.(1123-1125)gaA>gaG	p.E375E	HNRNPU_ENST00000444376.2_Silent_p.E356E			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	375	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AAGAAAATTCTTCTTCACCTA	0.289																																					NSCLC(33;911 1010 3329 23631 49995)	.											0													69	69	69					1																	245022136		2202	4292	6494	SO:0001819	synonymous_variant	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1125A>G	1.37:g.245022136T>C			O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	CCDS41479.1																																																																																				0.289	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		C	245022136	T	C	245022136	2	2	38	1	0	0	0	0	0	0	0	1	7273	1606	56	2		2	HNRNPU	1	245022136	Silent	SNP	T	TCGA-KN-8423-01A-11D-2310-10	89843354	245022136	4228485	3	2729											
KYNU	8942	broad.mit.edu	37	chr2	143718278	143718278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatcctgttcagtggggTgcatttttacactggacagc	8	13	12	8	0	1	1	1	1	0	0	2	2	2	2	1	3	3	2	1	3	1	4			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr2:143718278T>C	ENST00000264170.4	+	8	926	c.668T>C	c.(667-669)gTg>gCg	p.V223A	KYNU_ENST00000409512.1_Missense_Mutation_p.V223A|KYNU_ENST00000375773.2_Missense_Mutation_p.V223A	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTCAGTGGGGTGCATTTTTAC	0.428																																						.											0													143	139	140					2																	143718278		2203	4300	6503	SO:0001583	missense	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.668T>C	2.37:g.143718278T>C	ENSP00000264170:p.Val223Ala			Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906706	0.72868	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.56776	0.44;0.44;0.44	5.35	5.35	0.76521	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.467479	0.21519	N	0.073244	T	0.77425	0.4128	M	0.90019	3.08	0.80722	D	1	D;P	0.55800	0.973;0.785	D;P	0.69824	0.966;0.852	T	0.82341	-0.0505	10	0.87932	D	0	.	15.3368	0.74263	0.0:0.0:0.0:1.0	.	223;223	Q16719;Q9BVW3	KYNU_HUMAN;.	A	223	ENSP00000264170:V223A;ENSP00000364928:V223A;ENSP00000386731:V223A	ENSP00000264170:V223A	V	+	2	0	KYNU	143434748	1.000000	0.71417	0.907000	0.35723	0.507000	0.33981	7.639000	0.83342	2.156000	0.67533	0.524000	0.50904	GTG		0.428	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		C	143718278	T	C	143718278	3	2	38	1	0	0	0	0	1	0	0	0	8587	1696	59	2	694	2	KYNU	2	143718278	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10		143718278	99481095	4	2730											
DNAJB2	3300	hgsc.bcm.edu	37	chr2	220149586	220149586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcacagcaccgacggcaGgggcggcccaaggcccagca	10	0	16	15	3	0	0	0	0	0	0	0	2	0	0	3	6	2	4	3	6	1	0			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr2:220149586G>T	ENST00000336576.5	+	9	1140	c.852G>T	c.(850-852)caG>caT	p.Q284H	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	284					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGACGGCAGGGGCGGCCCA	0.662																																						.											0													17	19	18					2																	220149586		2199	4297	6496	SO:0001583	missense	3300				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.852G>T	2.37:g.220149586G>T	ENSP00000338019:p.Gln284His		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708121	0.30322	.	.	ENSG00000135924	ENST00000336576	T	0.61627	0.09	4.79	2.83	0.33086	.	7739.210000	0.00166	N	0.000000	T	0.46367	0.1389	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	10	0.34782	T	0.22	.	9.4716	0.38847	0.0:0.1193:0.5069:0.3738	.	284	P25686	DNJB2_HUMAN	H	284	ENSP00000338019:Q284H	ENSP00000338019:Q284H	Q	+	3	2	DNAJB2	219857830	0.994000	0.37717	0.999000	0.59377	0.654000	0.38779	1.245000	0.32790	1.195000	0.43115	0.456000	0.33151	CAG		0.662	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			T	220149586	G	T	220149586	3	4	38	1	0	0	0	0	1	0	0	0	4620	991	35	5	882	5	DNAJB2	2	220149586	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10	76431308	220149586	23049787	5	2731											
DAZL	1618	broad.mit.edu	37	chr3	16638275	16638275	+	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	acctgaacatactgagttatAggattcatcgtggttgtggg	10	13	12	6	1	1	2	1	2	0	0	2	3	1	3	1	3	2	2	1	3	4	5			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr3:16638275A>G	ENST00000399444.2	-	6	773	c.480T>C	c.(478-480)ccT>ccC	p.P160P	DAZL_ENST00000250863.8_Silent_p.P180P	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	160					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ACTGAGTTATAGGATTCATCG	0.383																																						.											0													189	184	186					3																	16638275		2052	4207	6259	SO:0001819	synonymous_variant	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.480T>C	3.37:g.16638275A>G			O15396|Q5HYB4|Q92909	Silent	SNP	ENST00000399444.2	37	CCDS43059.1																																																																																				0.383	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		G	16638275	A	G	16638275	2	3	38	1	0	0	0	0	0	0	0	1	4246	407	15	2		2	DAZL	3	16638275	Silent	SNP	A	TCGA-KN-8423-01A-11D-2310-10		16638275	181384155	6	2732											
LEKR1	389170	broad.mit.edu	37	chr3	156745919	156745919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaatcacaggcgctacaAgagatctaaggcaggaagtg	15	7	11	8	1	2	1	1	0	1	1	2	3	2	2	0	3	1	2	0	3	5	3			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr3:156745919A>G	ENST00000470811.1	+	13	1819	c.484A>G	c.(484-486)Aga>Gga	p.R162G	LEKR1_ENST00000356539.4_Missense_Mutation_p.R466G			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	162										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGGCGCTACAAGAGATCTAAG	0.343																																						.											0													55	58	57					3																	156745919		2203	4300	6503	SO:0001583	missense	389170			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.484A>G	3.37:g.156745919A>G	ENSP00000418214:p.Arg162Gly			Missense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	A	11.02	1.515270	0.27123	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.44881	0.91;0.91	5.48	2.93	0.34026	.	0.575833	0.16682	N	0.203903	T	0.31575	0.0801	L	0.51422	1.61	0.22819	N	0.998697	B	0.34015	0.435	B	0.30495	0.116	T	0.11941	-1.0567	10	0.27785	T	0.31	-5.3815	7.0189	0.24902	0.5714:0.2895:0.0:0.1392	.	162	Q6ZMV7	LEKR1_HUMAN	G	162;466	ENSP00000418214:R162G;ENSP00000348936:R466G	ENSP00000348936:R466G	R	+	1	2	LEKR1	158228613	0.055000	0.20627	0.992000	0.48379	0.984000	0.73092	0.717000	0.25851	0.883000	0.36040	0.533000	0.62120	AGA		0.343	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		G	156745919	A	G	156745919	3	3	38	1	0	0	0	0	1	0	0	0	8717	64	3	2	1438	2	LEKR1	3	156745919	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	140107644	156745919	41276511	7	2733											
HTT	3064	broad.mit.edu	37	chr4	3234985	3234985	+	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	ggagccctgcacggcgtcctCtatgtgctggagtgcgacct	5	9	14	13	3	1	0	0	0	1	0	2	3	2	2	3	3	4	2	3	3	1	1			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:3234985C>G	ENST00000355072.5	+	61	8506	c.8361C>G	c.(8359-8361)ctC>ctG	p.L2787L	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2787					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)		ACGGCGTCCTCTATGTGCTGG	0.642																																						.											0													99	111	107					4																	3234985		2121	4228	6349	SO:0001819	synonymous_variant	3064			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.8361C>G	4.37:g.3234985C>G			Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		G	3234985	C	G	3234985	2	3	38	1	0	0	0	0	0	0	0	1	7457	900	32	5		5	HTT	4	3234985	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10		3234985	187919291	8	2734											
DSPP	1834	mdanderson.org	37	chr4	88536448	88536448	+	Silent	SNP	C	C	T																															gacagcagcaacagcagtgaCagcagtgatagcagtgacag																								rs111205175		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536448C>T	ENST00000282478.7	+	4	2667	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	DSPP_ENST00000399271.1_Silent_p.D878D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	878	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)		acagcagtgacagcagtgata	0.498																																						.											0													70	84	79					4																	88536448		1633	2930	4563	SO:0001819	synonymous_variant	1834			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.2634C>T	4.37:g.88536448C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536448	C	T	88536448	2	4	38	1	0	0	0	0	0	0	0	1	4782	477	17	4		4	DSPP	4	88536448	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	85301463	88536448	102617828	9	2735	77	4									
DSPP	1834	mdanderson.org	37	chr4	88536451	88536451	+	Silent	SNP	C	C	T																															agcagcaacagcagtgacagCagtgatagcagtgacagcaa																								rs111205176|rs149201255		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536451C>T	ENST00000282478.7	+	4	2670	c.2637C>T	c.(2635-2637)agC>agT	p.S879S	DSPP_ENST00000399271.1_Silent_p.S879S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	879	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)		gcagtgacagcagtgatagca	0.493																																						.											0													71	84	80					4																	88536451		1629	2928	4557	SO:0001819	synonymous_variant	1834			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.2637C>T	4.37:g.88536451C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536451	C	T	88536451	2	4	38	1	0	0	0	0	0	0	0	1	4782	709	25	4		4	DSPP	4	88536451	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	3	88536451	102617825	10	2736	77	4									
DSPP	1834	mdanderson.org	37	chr4	88536457	88536457	+	Silent	SNP	T	T	C																															aacagcagtgacagcagtgaTagcagtgacagcaacgaaag																								rs141186173|rs111205177|rs199994008	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536457T>C	ENST00000282478.7	+	4	2676	c.2643T>C	c.(2641-2643)gaT>gaC	p.D881D	DSPP_ENST00000399271.1_Silent_p.D881D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	881	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)	p.D881_S882insSSD(1)		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)		acagcagtgatagcagtgaca	0.498																																						.											1	Insertion - In frame(1)	ovary(1)											73	87	82					4																	88536457		1618	2922	4540	SO:0001819	synonymous_variant	1834			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.2643T>C	4.37:g.88536457T>C			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88536457	T	C	88536457	2	2	38	1	0	0	0	0	0	0	0	1	4782	1403	49	4		4	DSPP	4	88536457	Silent	SNP	T	TCGA-KN-8423-01A-11D-2310-10	6	88536457	102617819	11	2737	77	4									
DSPP	1834	mdanderson.org	37	chr4	88536460	88536460	+	Silent	SNP	C	C	T																															agcagtgacagcagtgatagCagtgacagcaacgaaagcag																								rs199691318		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536460C>T	ENST00000282478.7	+	4	2679	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	DSPP_ENST00000399271.1_Silent_p.S882S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	882	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)		gcagtgatagcagtgacagca	0.498																																						.											0													73	87	82					4																	88536460		1617	2929	4546	SO:0001819	synonymous_variant	1834			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.2646C>T	4.37:g.88536460C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536460	C	T	88536460	2	4	38	1	0	0	0	0	0	0	0	1	4782	709	25	4		4	DSPP	4	88536460	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	3	88536460	102617816	12	2738	77	4									
UGT3A1	133688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	35957478	35957478	+	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	tggagccaaaggccacaaggAcaaaccctgcatccccaaag	15	3	9	14	0	0	0	0	0	0	0	1	2	1	2	5	3	3	1	5	3	4	0			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:35957478A>T	ENST00000274278.3	-	5	1244	c.887T>A	c.(886-888)gTc>gAc	p.V296D	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.V262D|UGT3A1_ENST00000503189.1_Missense_Mutation_p.V296D	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	296						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCCACAAGGACAAACCCTGC	0.493																																						.											0													95	83	87					5																	35957478		2203	4300	6503	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.887T>A	5.37:g.35957478A>T	ENSP00000274278:p.Val296Asp		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.360365	0.41801	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.72725	-0.68;-0.68;-0.68	3.28	3.28	0.37604	.	0.632758	0.14275	N	0.329919	D	0.87621	0.6223	H	0.95402	3.665	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.76071	0.981;0.98;0.987	D	0.88995	0.3417	10	0.87932	D	0	.	11.2924	0.49258	1.0:0.0:0.0:0.0	.	262;296;296	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	D	296;296;262	ENSP00000274278:V296D;ENSP00000427079:V296D;ENSP00000426100:V262D	ENSP00000274278:V296D	V	-	2	0	UGT3A1	35993235	0.878000	0.30173	0.994000	0.49952	0.137000	0.21094	4.441000	0.59981	1.431000	0.47355	0.383000	0.25322	GTC		0.493	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		T	35957478	A	T	35957478	3	4	38	1	0	0	0	0	1	0	0	0	16960	275	10	5	696	5	UGT3A1	5	35957478	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		35957478	144957782	13	2739											
RASGRF2	5924	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	80504195	80504195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcttgggcaggggtggAtgaagctggataaaaacgaa	13	9	15	4	1	1	1	0	1	1	0	1	4	1	3	0	5	2	3	0	5	5	3			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:80504195A>G	ENST00000265080.4	+	22	3161	c.3094A>G	c.(3094-3096)Atg>Gtg	p.M1032V	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1032	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCAGGGGTGGATGAAGCTGGA	0.413																																						.											0													72	69	70					5																	80504195		2203	4300	6503	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3094A>G	5.37:g.80504195A>G	ENSP00000265080:p.Met1032Val		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131835	0.77662	.	.	ENSG00000113319	ENST00000265080	T	0.29397	1.57	5.67	5.67	0.87782	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.102022	0.85682	D	0.000000	T	0.49081	0.1536	L	0.50919	1.6	0.58432	D	0.999999	P	0.50369	0.934	D	0.63488	0.915	T	0.44862	-0.9300	10	0.56958	D	0.05	.	15.5751	0.76373	1.0:0.0:0.0:0.0	.	1032	O14827	RGRF2_HUMAN	V	1032	ENSP00000265080:M1032V	ENSP00000265080:M1032V	M	+	1	0	RASGRF2	80539951	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.233000	0.95337	2.161000	0.67846	0.528000	0.53228	ATG		0.413	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		G	80504195	A	G	80504195	3	3	38	1	0	0	0	0	1	0	0	0	13073	333	12	4	3180	4	RASGRF2	5	80504195	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	44546717	80504195	100411065	14	2740											
HNRNPA0	10949	ucsc.edu;bcgsc.ca	37	chr5	137089608	137089608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtaggtcacgaagccaaAgcaacgggagcgcttggtct	11	6	15	9	3	2	0	1	0	1	0	2	3	2	2	1	4	4	3	1	4	4	2			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:137089608A>G	ENST00000314940.4	-	1	431	c.148T>C	c.(148-150)Ttt>Ctt	p.F50L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	50	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGAAGCCAAAGCAACGGGAG	0.657																																						.											0													51	52	52					5																	137089608		2203	4300	6503	SO:0001583	missense	10949			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"RNA binding motif (RRM) containing"	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.148T>C	5.37:g.137089608A>G	ENSP00000316042:p.Phe50Leu		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	A	35	5.486893	0.96323	.	.	ENSG00000177733	ENST00000314940	T	0.09350	2.99	4.93	4.93	0.64822	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.41373	0.1156	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.54132	-0.8339	10	0.87932	D	0	.	14.5742	0.68235	1.0:0.0:0.0:0.0	.	50	Q13151	ROA0_HUMAN	L	50	ENSP00000316042:F50L	ENSP00000316042:F50L	F	-	1	0	HNRNPA0	137117507	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.261000	0.95576	1.853000	0.53794	0.374000	0.22700	TTT		0.657	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		G	137089608	A	G	137089608	3	3	38	1	0	0	0	0	1	0	0	0	7256	72	3	2	773	2	HNRNPA0	5	137089608	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	56585413	137089608	43825652	15	2741											
HAVCR1	26762	ucsc.edu	37	chr5	156479568	156479568	+	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	acagttgtcgttggaacagtCgtcattggaacagtcgttgt	9	13	12	7	3	1	0	1	0	0	0	4	2	1	2	0	2	2	3	0	2	2	4	rs386693994|rs139041445|rs6149307|rs10068551|rs141023871|rs77147640	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:156479568C>T	ENST00000339252.3	-	3	1009	c.477G>A	c.(475-477)acG>acA	p.T159T	HAVCR1_ENST00000522693.1_Silent_p.T159T|HAVCR1_ENST00000425854.1_Silent_p.T159T|HAVCR1_ENST00000544197.1_Silent_p.T159T|HAVCR1_ENST00000523175.1_Silent_p.T159T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.T160_V161insT(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACAGTCGTCATTGGAA	0.488														70	0.0139776	0.0499	0.0058	5008	,	,		22483	0		0	False		,,,				2504	0					.											1	Insertion - In frame(1)	ovary(1)											463	356	392					5																	156479568		2125	4230	6355	SO:0001819	synonymous_variant	26762			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.477G>A	5.37:g.156479568C>T			O43656	Silent	SNP	ENST00000339252.3	37	CCDS43392.1																																																																																				0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			T	156479568	C	T	156479568	2	4	38	1	0	0	0	0	0	0	0	1	6973	871	31	1		1	HAVCR1	5	156479568	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	19389960	156479568	24435692	16	2742											
HLA-DRB1	3123	mdanderson.org	37	chr6	32549587	32549587	+	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	tgctgcaggggctgggtcttTgaaggatatacagtcacctt	8	12	13	8	0	2	1	1	1	1	0	2	2	2	2	1	4	3	3	1	4	3	4	rs2308761	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr6:32549587T>G	ENST00000360004.5	-	3	504	c.399A>C	c.(397-399)tcA>tcC	p.S133S		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	133	Beta-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)|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)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCTGGGTCTTTGAAGGATATA	0.512										Multiple Myeloma(14;0.17)																												.											0													59	74	69					6																	32549587		1510	2709	4219	SO:0001819	synonymous_variant	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.399A>C	6.37:g.32549587T>G			P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																				0.512	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32549587	T	G	32549587	2	3	38	1	0	0	0	0	0	0	0	1	7208	1799	63	5		5	HLA-DRB1	6	32549587	Silent	SNP	T	TCGA-KN-8423-01A-11D-2310-10		32549587	138565480	17	2743											
HERPUD2	64224	ucsc.edu	37	chr7	35678074	35678074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccaggaaattggttgTctacatttctgcaagaaata	12	13	8	8	0	2	1	0	0	2	1	2	2	2	2	1	2	3	2	1	2	5	6			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:35678074T>C	ENST00000396081.1	-	5	1307	c.503A>G	c.(502-504)gAc>gGc	p.D168G	HERPUD2_ENST00000311350.3_Missense_Mutation_p.D168G|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	168					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						AAATTGGTTGTCTACATTTCT	0.418																																						.											0													63	61	61					7																	35678074		2203	4300	6503	SO:0001583	missense	64224			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.503A>G	7.37:g.35678074T>C	ENSP00000379390:p.Asp168Gly		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	8.314	0.822852	0.16678	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517	T;T;T;T	0.28666	2.79;2.79;1.6;1.98	5.04	3.71	0.42584	.	0.554792	0.20697	N	0.087357	T	0.07007	0.0178	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	10	0.19147	T	0.46	-10.5907	1.6233	0.02718	0.2894:0.2009:0.0:0.5097	.	168	Q9BSE4	HERP2_HUMAN	G	168;168;104;142	ENSP00000379390:D168G;ENSP00000310729:D168G;ENSP00000415475:D104G;ENSP00000391015:D142G	ENSP00000310729:D168G	D	-	2	0	HERPUD2	35644599	0.563000	0.26594	0.709000	0.30452	0.988000	0.76386	2.230000	0.42999	2.008000	0.58898	0.533000	0.62120	GAC		0.418	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		C	35678074	T	C	35678074	3	2	38	1	0	0	0	0	1	0	0	0	7064	1667	58	2	733	2	HERPUD2	7	35678074	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10		35678074	123460589	18	2744											
UPP1	7378	broad.mit.edu;hgsc.bcm.edu	37	chr7	48147910	48147911	+	Frame_Shift_Ins	INS	-	-	GGCT																															gtaccagcagaggccgcagcINSggctggtgagctacttcatc																										TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:48147910_48147911insGGCT	ENST00000331803.4	+	10	1512_1513	c.889_890insGGCT	c.(889-891)cggfs	p.-298fs	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Frame_Shift_Ins_p.-298fs|UPP1_ENST00000429491.2_Frame_Shift_Ins_p.-161fs|UPP1_ENST00000395564.4_Frame_Shift_Ins_p.-298fs			Q16831	UPP1_HUMAN	uridine phosphorylase 1						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)	p.R297Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GAGGCCGCAGCGGCTGGTGAGC	0.594																																						.											1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	7378			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.890_893dupGGCT	7.37:g.48147911_48147914dupGGCT	ENSP00000330032:p.Leu298fs		D3DVM4|Q15362	Frame_Shift_Ins	INS	ENST00000331803.4	37	CCDS5507.1																																																																																				0.594	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		GGCT	48147911	-	GGCT	48147910	7	5	38	1	0	1	1	0	0	0	0	0	17009	759	27	0	915	0	UPP1	7	48147910	Frame_Shift_Ins	INS	-	TCGA-KN-8423-01A-11D-2310-10	12469836	48147910	110990753	19	2745	78	2									
UPP1	7378	bcgsc.ca	37	chr7	48147911	48147912	+	Frame_Shift_Ins	INS	-	-	GGCT																															taccagcagaggccgcagcgINSgctggtgagctacttcatca																										TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:48147911_48147912insGGCT	ENST00000331803.4	+	10	1513_1514	c.890_891insGGCT	c.(889-894)cggctgfs	p.L298fs	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Frame_Shift_Ins_p.L298fs|UPP1_ENST00000429491.2_Frame_Shift_Ins_p.L161fs|UPP1_ENST00000395564.4_Frame_Shift_Ins_p.L298fs			Q16831	UPP1_HUMAN	uridine phosphorylase 1	298					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)	p.R297Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGGCCGCAGCGGCTGGTGAGCT	0.599																																						.											1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	7378			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	Exception_encountered	7.37:g.48147911_48147912insGGCT	ENSP00000330032:p.Leu298fs		D3DVM4|Q15362	Frame_Shift_Ins	INS	ENST00000331803.4	37	CCDS5507.1																																																																																				0.599	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		GGCT	48147912	-	GGCT	48147911	7	5	38	1	0	1	1	0	0	0	0	0	17009	1116	39	0	916	0	UPP1	7	48147911	Frame_Shift_Ins	INS	-	TCGA-KN-8423-01A-11D-2310-10	1	48147911	110990752	20	2746	78	2									
IQUB	154865	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	123119977	123119977	+	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	cagagcagctttcctttcagCtccagtaaaagattggttaa	12	12	8	9	0	1	2	1	0	0	2	3	2	3	2	2	1	3	5	2	1	3	5			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:123119977C>G	ENST00000466202.1	-	8	1858	c.1282G>C	c.(1282-1284)Gct>Cct	p.A428P	IQUB_ENST00000324698.6_Missense_Mutation_p.A428P|IQUB_ENST00000434450.1_Missense_Mutation_p.A428P	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	428					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCCTTTCAGCTCCAGTAAAA	0.383																																						.											0													111	101	104					7																	123119977		2203	4299	6502	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1282G>C	7.37:g.123119977C>G	ENSP00000417769:p.Ala428Pro		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301776	0.81136	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.50548	1.75;1.75;0.74	5.73	5.73	0.89815	.	0.048468	0.85682	D	0.000000	T	0.46908	0.1417	L	0.31752	0.955	0.53688	D	0.99997	P;P	0.47762	0.9;0.84	P;B	0.46940	0.532;0.405	T	0.38499	-0.9658	10	0.45353	T	0.12	.	19.4877	0.95037	0.0:1.0:0.0:0.0	.	428;428	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	P	428	ENSP00000417769:A428P;ENSP00000324882:A428P;ENSP00000388498:A428P	ENSP00000324882:A428P	A	-	1	0	IQUB	122907213	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.219000	0.51200	2.709000	0.92574	0.563000	0.77884	GCT		0.383	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		G	123119977	C	G	123119977	3	3	38	1	0	0	0	0	1	0	0	0	7820	797	28	5	1117	5	IQUB	7	123119977	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	74972066	123119977	36018686	21	2747											
NOBOX	135935	bcgsc.ca	37	chr7	144096937	144096937	+	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	ccatttttcgccacttggccCggcgattctggaaccacacc	7	10	8	16	3	1	0	0	0	1	0	2	2	1	1	5	3	1	0	5	3	1	4			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:144096937C>T	ENST00000467773.1	-	6	1066	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.R324Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.R239Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					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)			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)					CCACTTGGCCCGGCGATTCTG	0.542																																						.											0													78	82	80					7																	144096937		1955	4150	6105	SO:0001583	missense	135935					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.1067G>A	7.37:g.144096937C>T	ENSP00000419457:p.Arg356Gln		A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544899	0.86022	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.99298	-5.48;-5.71;-5.48	5.55	4.67	0.58626	Homeodomain-related (1);Homeobox (2);	0.324668	0.29987	N	0.010695	D	0.99510	0.9825	M	0.93241	3.395	0.32825	D	0.503226	D	0.89917	1.0	D	0.91635	0.999	D	0.98597	1.0657	10	0.87932	D	0	-35.0972	12.3015	0.54876	0.0:0.918:0.0:0.082	.	356	O60393	NOBOX_HUMAN	Q	324;356;239;113	ENSP00000419565:R324Q;ENSP00000419457:R356Q;ENSP00000223140:R239Q	ENSP00000223140:R239Q	R	-	2	0	NOBOX	143727870	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	5.277000	0.65586	1.352000	0.45808	0.650000	0.86243	CGG		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		T	144096937	C	T	144096937	3	4	38	1	0	0	0	0	1	0	0	0	10512	652	23	1	1028	1	NOBOX	7	144096937	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	20976960	144096937	15041726	22	2748											
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-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	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																																						.											0													172	174	174					8																	52733143		2203	4300	6503	SO:0001583	missense	115294				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		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	38	1	0	0	0	0	1	0	0	0	11586	43	2	2	235	2	PCMTD1	8	52733143	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		52733143	93630879	23	2749											
EYA1	2138	broad.mit.edu	37	chr8	72129213	72129213	+	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	tgctcaccttaggtcctgtcCgttatcatctgaagaaacat	10	13	7	11	1	3	2	2	1	1	1	5	2	5	2	3	1	2	2	3	1	4	2			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr8:72129213C>T	ENST00000340726.3	-	13	1825	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	EYA1_ENST00000388740.3_Missense_Mutation_p.G363R|EYA1_ENST00000388742.4_Missense_Mutation_p.G396R|EYA1_ENST00000303824.7_Missense_Mutation_p.G390R|EYA1_ENST00000419131.1_Missense_Mutation_p.G361R|EYA1_ENST00000388741.2_Missense_Mutation_p.G362R|EYA1_ENST00000388743.2_Missense_Mutation_p.G395R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	396					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)			AGGTCCTGTCCGTTATCATCT	0.338																																						.											0													137	129	132					8																	72129213		2203	4300	6503	SO:0001583	missense	2138			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.1186G>A	8.37:g.72129213C>T	ENSP00000342626:p.Gly396Arg		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418716	0.83559	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.91351	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-2.83	5.34	5.34	0.76211	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.95114	0.8417	M	0.72118	2.19	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	0.91635	0.999;0.985;0.989;0.998;0.998	D	0.95168	0.8287	10	0.87932	D	0	-13.6874	19.2408	0.93881	0.0:1.0:0.0:0.0	.	390;323;363;396;361	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	R	396;396;364;363;390;362;395;361	ENSP00000373394:G396R;ENSP00000342626:G396R;ENSP00000373392:G363R;ENSP00000303221:G390R;ENSP00000373393:G362R;ENSP00000373395:G395R;ENSP00000410176:G361R	ENSP00000303221:G390R	G	-	1	0	EYA1	72291767	1.000000	0.71417	0.951000	0.38953	0.912000	0.54170	7.516000	0.81772	2.785000	0.95823	0.655000	0.94253	GGA		0.338	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		T	72129213	C	T	72129213	3	4	38	1	0	0	0	0	1	0	0	0	5328	661	23	1	616	1	EYA1	8	72129213	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	19396070	72129213	74234809	24	2750											
C9orf150	286343	mdanderson.org	37	chr9	12775889	12775889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggctgcagtagcAgcagcagctactgcagcttc	7	6	15	13	3	0	0	0	0	0	0	1	0	0	0	0	3	8	9	0	3	2	3	rs3750501	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:12775889A>G	ENST00000319264.3	+	1	870	c.175A>G	c.(175-177)Agc>Ggc	p.S59G	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	62	Gly-rich.																ctgcagtagcagcagcagcTA	0.697													A|||	3412	0.68131	0.4947	0.8372	5008	,	,		10003	0.7679		0.8241	False		,,,				2504	0.5869					.											0													6	5	5					9																	12775889		1946	3629	5575	SO:0001583	missense	286343			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.175A>G	9.37:g.12775889A>G	ENSP00000321026:p.Ser59Gly		Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	CCDS6473.1	1604	0.7344322344322345	244	0.4959349593495935	298	0.8232044198895028	440	0.7692307692307693	622	0.820580474934037	A	10.39	1.336728	0.24253	.	.	ENSG00000153714	ENST00000319264	T	0.48522	0.81	5.19	1.22	0.21188	.	1.487020	0.03885	N	0.277674	T	0.00012	0.0000	N	0.22421	0.69	0.44117	P	0.003106000000000053	B	0.09022	0.002	B	0.09377	0.004	T	0.38156	-0.9674	9	0.12430	T	0.62	.	4.2654	0.10761	0.5757:0.1693:0.255:0.0	rs3750501	62	Q8IV03	CI150_HUMAN	G	59	ENSP00000321026:S59G	ENSP00000321026:S59G	S	+	1	0	C9orf150	12765889	0.840000	0.29493	0.997000	0.53966	0.601000	0.36947	1.087000	0.30865	0.824000	0.34613	-0.381000	0.06696	AGC		0.697	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		G	12775889	A	G	12775889	3	3	38	1	0	0	0	0	1	0	0	0	2462	188	7	2	177	2	C9orf150	9	12775889	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		12775889	128437542	25	2751											
SYK	6850	bcgsc.ca	37	chr9	93650875	93650875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggtgtccaagagagAtgtacgatctcatgaatctg	11	10	12	8	1	2	3	1	1	2	2	4	5	3	3	1	1	2	2	1	1	3	1			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:93650875A>G	ENST00000375754.4	+	13	1949	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	SYK_ENST00000375751.4_Missense_Mutation_p.M578V|SYK_ENST00000375747.1_Missense_Mutation_p.M578V|SYK_ENST00000375746.1_Missense_Mutation_p.M601V	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	601	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						TCCAAGAGAGATGTACGATCT	0.488			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																	.		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													126	102	110					9																	93650875		2203	4300	6503	SO:0001583	missense	6850			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.1801A>G	9.37:g.93650875A>G	ENSP00000364907:p.Met601Val			Missense_Mutation	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	9.236	1.037182	0.19669	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.22	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.084773	0.85682	D	0.000000	T	0.49490	0.1560	N	0.01473	-0.845	0.58432	D	0.999994	B;B	0.13594	0.004;0.008	B;B	0.15870	0.008;0.014	T	0.49476	-0.8936	10	0.10111	T	0.7	.	6.6524	0.22969	0.8219:0.0:0.1781:0.0	.	578;601	P43405-2;P43405	.;KSYK_HUMAN	V	601;578;578;601	ENSP00000364907:M601V;ENSP00000364904:M578V;ENSP00000364899:M578V;ENSP00000364898:M601V	ENSP00000364898:M601V	M	+	1	0	SYK	92690696	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.699000	0.47077	2.082000	0.62665	0.455000	0.32223	ATG		0.488	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			G	93650875	A	G	93650875	3	3	38	1	0	0	0	0	1	0	0	0	15435	333	12	4	1847	4	SYK	9	93650875	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	80874986	93650875	47562556	26	2752											
RC3H2	54542	broad.mit.edu	37	chr9	125620200	125620200	+	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	aagtaattaaaacctttcttAcatccgcacgaaagtctaca	16	11	4	10	2	2	0	0	0	2	0	3	1	3	0	2	0	3	2	2	0	7	5			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:125620200A>G	ENST00000373670.1	-	12	3055		c.e12+1		RC3H2_ENST00000357244.2_Splice_Site|RC3H2_ENST00000423239.2_Splice_Site			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						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						AACCTTTCTTACATCCGCACG	0.423																																						.											0													114	115	115					9																	125620200		1979	4148	6127	SO:0001630	splice_region_variant	54542			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.2454+1T>C	9.37:g.125620200A>G			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Splice_Site	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.301389	0.60195	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8629	0.63571	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RC3H2	124660021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.339000	0.72969	2.206000	0.71126	0.533000	0.62120	.		0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	Intron	G	125620200	A	G	125620200	5	3	38	1	0	0	0	0	0	0	1	0	13167	405	14	2	1233	2	RC3H2	9	125620200	Splice_Site	SNP	A	TCGA-KN-8423-01A-11D-2310-10	31969325	125620200	15593231	27	2753											
NMT2	9397	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr10	15172216	15172216	+	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	agatcccttccaggttcactCttctagtgatctctcggatt	7	15	7	12	1	4	2	1	1	3	1	8	3	6	3	2	2	0	1	2	2	1	5			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:15172216C>T	ENST00000378165.4	-	7	895	c.815G>A	c.(814-816)aGa>aAa	p.R272K	NMT2_ENST00000540259.1_Missense_Mutation_p.R84K|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R259K|NMT2_ENST00000535341.1_Missense_Mutation_p.R259K	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	272					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						CAGGTTCACTCTTCTAGTGAT	0.468																																					Melanoma(117;1345 1645 4130 12688 30625)	.											0													119	111	114					10																	15172216		2203	4300	6503	SO:0001583	missense	9397			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.815G>A	10.37:g.15172216C>T	ENSP00000367407:p.Arg272Lys		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193219	0.78902	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.56611	0.45	5.57	5.57	0.84162	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.94142	3.5	0.80722	D	1	B;B;B	0.22211	0.066;0.021;0.066	B;B;B	0.32090	0.14;0.063;0.14	T	0.74160	-0.3755	10	0.87932	D	0	-25.6325	19.98	0.97322	0.0:1.0:0.0:0.0	.	272;259;272	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	K	272;259;303;84;259	ENSP00000367407:R272K	ENSP00000367385:R303K	R	-	2	0	NMT2	15212222	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	AGA		0.468	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		T	15172216	C	T	15172216	3	4	38	1	0	0	0	0	1	0	0	0	10504	913	32	4	705	4	NMT2	10	15172216	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10		15172216	120362531	28	2754											
FAM171A1	221061	bcgsc.ca	37	chr10	15254967	15254967	+	Missense_Mutation	SNP	T	T	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	ctcccgtttctgccaggggcTtttcttgtcttctccttggt	1	18	9	13	1	4	0	0	0	4	0	6	0	5	0	3	3	1	2	3	3	0	6			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:15254967T>C	ENST00000378116.4	-	8	2626	c.2620A>G	c.(2620-2622)Agc>Ggc	p.S874G	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	874						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCCAGGGGCTTTTCTTGTCT	0.527																																						.											0													145	143	144					10																	15254967		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2620A>G	10.37:g.15254967T>C	ENSP00000367356:p.Ser874Gly		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045416	0.75846	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.40225	1.04	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69221	-0.5202	10	0.72032	D	0.01	-27.741	15.0682	0.72014	0.0:0.0:0.0:1.0	.	874	Q5VUB5	F1711_HUMAN	G	874;873	ENSP00000367356:S874G	ENSP00000367356:S874G	S	-	1	0	FAM171A1	15294973	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.843000	0.86859	2.137000	0.66172	0.460000	0.39030	AGC		0.527	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		C	15254967	T	C	15254967	3	2	38	1	0	0	0	0	1	0	0	0	5490	1609	56	2	56	2	FAM171A1	10	15254967	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	82751	15254967	120279780	29	2755											
GPRIN2	9721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	46998903	46998903	+	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	gagctccagccgccccgagcCgggtccctgggcacccctga	5	4	13	19	3	0	1	0	1	0	0	2	3	2	1	8	2	3	2	8	2	0	0	rs201821942		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:46998903C>T	ENST00000374317.1	+	3	296	c.23C>T	c.(22-24)cCg>cTg	p.P8L	GPRIN2_ENST00000374314.4_Missense_Mutation_p.P8L	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	8										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CGCCCCGAGCCGGGTCCCTGG	0.642													C|||	1	0.000199681	0	0	5008	,	,		32033	0		0.001	False		,,,				2504	0					.											0													52	71	65					10																	46998903		2183	4269	6452	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.23C>T	10.37:g.46998903C>T	ENSP00000363436:p.Pro8Leu		Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	1.482	-0.557032	0.03967	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03745	3.82;3.82	5.33	2.39	0.29439	.	0.314820	0.23345	N	0.049188	T	0.02688	0.0081	L	0.38838	1.175	0.28702	N	0.904026	P	0.41420	0.749	B	0.35770	0.21	T	0.39035	-0.9633	10	0.11182	T	0.66	-6.6511	8.5351	0.33357	0.3107:0.5393:0.15:0.0	.	8	O60269	GRIN2_HUMAN	L	8	ENSP00000363436:P8L;ENSP00000363433:P8L	ENSP00000363433:P8L	P	+	2	0	GPRIN2	46418909	0.016000	0.18221	0.062000	0.19696	0.207000	0.24258	0.730000	0.26043	0.303000	0.22785	-0.181000	0.13052	CCG		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		T	46998903	C	T	46998903	3	4	38	1	0	0	0	0	1	0	0	0	6730	652	23	1	25	1	GPRIN2	10	46998903	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	31743936	46998903	88535844	30	2756											
PRLHR	2834	mdanderson.org	37	chr10	120353899	120353899	+	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	ggcagccagcagacggcgaaCaccaccacgatcaccaccag	13	1	10	17	3	1	1	1	0	0	1	1	3	1	1	5	2	3	2	5	2	1	0	rs116062593	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:120353899C>A	ENST00000369169.1	-	1	857	c.858G>T	c.(856-858)gtG>gtT	p.V286V	PRLHR_ENST00000239032.2_Silent_p.V286V			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	286					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGACGGCGAACACCACCACGA	0.692													C|||	71	0.0141773	0.0144	0.0058	5008	,	,		15832	0		0.0139	False		,,,				2504	0.0348					.											0								C		41,4361		0,41,2160	30	33	32		858	2.4	1	10	dbSNP_132	32	115,8467		0,115,4176	no	coding-synonymous	PRLHR	NM_004248.2		0,156,6336	AA,AC,CC		1.34,0.9314,1.2015		286/371	120353899	156,12828	2201	4291	6492	SO:0001819	synonymous_variant	2834			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.858G>T	10.37:g.120353899C>A			O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	CCDS7606.1																																																																																				0.692	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		A	120353899	C	A	120353899	2	1	38	1	0	0	0	0	0	0	0	1	12530	465	17	5		5	PRLHR	10	120353899	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	73354996	120353899	15180848	31	2757											
PAOX	196743	ucsc.edu;bcgsc.ca	37	chr10	135193598	135193598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacgggctgctgggggagAaggagctgtcccaggagaac	10	5	18	8	1	0	2	0	0	0	2	1	5	1	3	1	5	4	4	1	5	3	1			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:135193598A>G	ENST00000278060.5	+	2	360	c.277A>G	c.(277-279)Aag>Gag	p.K93E	PAOX_ENST00000480071.2_Missense_Mutation_p.K93E|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000357296.3_Missense_Mutation_p.K93E|PAOX_ENST00000368535.2_3'UTR|AL360181.1_ENST00000597657.1_5'Flank	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	231					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GCTGGGGGAGAAGGAGCTGTC	0.701																																						.											0													30	33	32					10																	135193598		2192	4298	6490	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.277A>G	10.37:g.135193598A>G	ENSP00000278060:p.Lys93Glu		D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	A	7.816	0.716827	0.15306	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92149	-2.98;-2.98;-2.98	4.88	3.7	0.42460	.	0.308493	0.34088	N	0.004266	D	0.82917	0.5141	N	0.25094	0.71	0.80722	D	1	B;B;B	0.22683	0.017;0.073;0.003	B;B;B	0.31390	0.021;0.129;0.007	T	0.69209	-0.5205	10	0.08179	T	0.78	-25.1848	4.8478	0.13523	0.7108:0.1921:0.0971:0.0	.	93;93;93	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	E	93	ENSP00000278060:K93E;ENSP00000349847:K93E;ENSP00000435514:K93E	ENSP00000278060:K93E	K	+	1	0	PAOX	135043588	0.026000	0.19158	0.952000	0.39060	0.536000	0.34869	1.138000	0.31491	0.675000	0.31264	0.460000	0.39030	AAG		0.701	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		G	135193598	A	G	135193598	3	3	38	1	0	0	0	0	1	0	0	0	11423	247	9	4	283	4	PAOX	10	135193598	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	14839699	135193598	341149	32	2758											
MUC6	4588	mdanderson.org	37	chr11	1016606	1016606	+	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	ctggtcccactggtggtcacTgtcattggtggggctgtgtg	3	13	16	9	0	2	0	2	0	0	0	3	0	3	0	1	6	0	1	1	6	0	1	rs148905794		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:1016606T>C	ENST00000421673.2	-	31	6245	c.6195A>G	c.(6193-6195)acA>acG	p.T2065T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2065	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)		TGGTGGTCACTGTCATTGGTG	0.572																																						.											0													242	260	254					11																	1016606		2181	4269	6450	SO:0001819	synonymous_variant	4588			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.6195A>G	11.37:g.1016606T>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016606	T	C	1016606	2	2	38	1	0	0	0	0	0	0	0	1	9980	1567	55	2		2	MUC6	11	1016606	Silent	SNP	T	TCGA-KN-8423-01A-11D-2310-10		1016606	133989910	33	2759											
MUC2	4583	broad.mit.edu	37	chr11	1092849	1092849	+	Frame_Shift_Del	DEL	G	G	-																															ccaacacccaccggcacacaGaccccaacaacgacacccat																										TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:1092849delG	ENST00000441003.2	+	30	4695	c.4668delG	c.(4666-4668)cagfs	p.Q1556fs	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Frame_Shift_Del_p.Q1557fs|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)	CCGGCACACAGACCCCAACAA	0.632																																						.											0													102	135	123					11																	1092849		1891	3510	5401	SO:0001589	frameshift_variant	4583			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.4668delG	11.37:g.1092849delG	ENSP00000415183:p.Gln1556fs		Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37																																																																																					0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		-	1092849	G	-	1092849	7	5	38	1	0	1	0	1	0	0	0	0	9975	933	33	0	4786	0	MUC2	11	1092849	Frame_Shift_Del	DEL	G	TCGA-KN-8423-01A-11D-2310-10	76243	1092849	133913667	34	2760											
KRTAP5-8	57830	mdanderson.org	37	chr11	71249605	71249605	+	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	tgctgccagtccagctgctgCaagccctgctgttcccagtc	5	10	10	16	0	0	0	0	0	0	0	3	0	2	0	4	0	7	6	4	0	1	1			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:71249605C>T	ENST00000398534.3	+	1	535	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	168	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						CCAGCTGCTGCAAGCCCTGCT	0.592																																						.											0													134	144	141					11																	71249605		2200	4294	6494	SO:0001819	synonymous_variant	57830			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.504C>T	11.37:g.71249605C>T			Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																				0.592	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		T	71249605	C	T	71249605	2	4	38	1	0	0	0	0	0	0	0	1	8567	718	25	4		4	KRTAP5-8	11	71249605	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	70156756	71249605	63756911	35	2761											
KIRREL3	84623	broad.mit.edu	37	chr11	126396466	126396466	+	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	gcccacacccagagccaagcCgtccttgatccacagaacga	12	4	8	17	2	0	3	0	1	0	2	2	4	2	3	6	0	3	0	6	0	2	1			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:126396466C>T	ENST00000525144.2	-	3	499	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	KIRREL3_ENST00000529097.2_Missense_Mutation_p.G84S|KIRREL3_ENST00000525704.2_Missense_Mutation_p.G84S	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	84	Ig-like C2-type 1.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGAGCCAAGCCGTCCTTGATC	0.617																																						.											0													58	65	63					11																	126396466		2055	4185	6240	SO:0001583	missense	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.250G>A	11.37:g.126396466C>T	ENSP00000435466:p.Gly84Ser		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216205	0.95104	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.37235	1.21;1.21;1.21	4.57	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.76558	-0.2915	10	0.72032	D	0.01	-14.5136	17.5449	0.87858	0.0:1.0:0.0:0.0	.	84;84;84	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	S	84	ENSP00000435466:G84S;ENSP00000434081:G84S;ENSP00000435094:G84S	ENSP00000435466:G84S	G	-	1	0	KIRREL3	125901676	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	7.289000	0.78701	2.343000	0.79666	0.655000	0.94253	GGC		0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		T	126396466	C	T	126396466	3	4	38	1	0	0	0	0	1	0	0	0	8326	652	23	1	2253	1	KIRREL3	11	126396466	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	55146861	126396466	8610050	36	2762											
RNF10	9921	hgsc.bcm.edu	37	chr12	120972755	120972755	+	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	tcggcggggccagccggcgaGtctaaacccaagagcggtaa	10	4	15	12	5	1	1	0	0	1	1	2	2	1	1	3	5	3	1	3	5	4	2	rs374593114		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr12:120972755G>A	ENST00000325954.4	+	1	602	c.141G>A	c.(139-141)gaG>gaA	p.E47E	RNF10_ENST00000413266.2_Silent_p.E47E	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	47	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)					CAGCCGGCGAGTCTAAACCCA	0.682																																						.											0								G		0,4224		0,0,2112	10	15	13		141	5.1	1	12		13	1,8351		0,1,4175	no	coding-synonymous	RNF10	NM_014868.4		0,1,6287	AA,AG,GG		0.012,0.0,0.0080		47/812	120972755	1,12575	2112	4176	6288	SO:0001819	synonymous_variant	9921			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.141G>A	12.37:g.120972755G>A			Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	CCDS9201.1																																																																																				0.682	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			A	120972755	G	A	120972755	2	1	38	1	0	0	0	0	0	0	0	1	13422	1020	36	4		4	RNF10	12	120972755	Silent	SNP	G	TCGA-KN-8423-01A-11D-2310-10		120972755	12879140	37	2763											
EP400	57634	mdanderson.org	37	chr12	132547141	132547141	+	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	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	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)	p.Q2742Q(2)		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)		agcagcaacagcagcagcagc	0.597																																						.											2	Substitution - coding silent(2)	kidney(2)											52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634			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.8337G>A	12.37:g.132547141G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547141	G	A	132547141	2	1	38	1	0	0	0	0	0	0	0	1	5149	962	34	4		4	EP400	12	132547141	Silent	SNP	G	TCGA-KN-8423-01A-11D-2310-10	11574386	132547141	1304754	38	2764											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678605	37678605	+	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	tcctcaaagcgcagcccacgAcagtagttcaagtacatggc	12	7	9	13	2	2	0	2	0	0	0	3	1	3	0	2	1	3	4	2	1	4	3			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:37678605A>G	ENST00000379800.3	-	1	1198	c.789T>C	c.(787-789)tgT>tgC	p.C263C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCAGCCCACGACAGTAGTTCA	0.428																																						.											0													144	136	139					13																	37678605		2203	4300	6503	SO:0001819	synonymous_variant	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.789T>C	13.37:g.37678605A>G			Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.428	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		G	37678605	A	G	37678605	2	3	38	1	0	0	0	0	0	0	0	1	3951	273	10	2		2	CSNK1A1L	13	37678605	Silent	SNP	A	TCGA-KN-8423-01A-11D-2310-10		37678605	77491273	39	2765											
MYCBP2	23077	hgsc.bcm.edu;bcgsc.ca	37	chr13	77714270	77714270	+	Missense_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	ggctacggatgcgaagccccGcactgtccttggccacaaat	9	7	11	14	3	0	0	0	0	0	0	1	2	1	1	4	3	3	2	4	3	3	2			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:77714270G>A	ENST00000544440.2	-	51	7333	c.7316C>T	c.(7315-7317)gCg>gTg	p.A2439V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A2439V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A2477V					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)		GCGAAGCCCCGCACTGTCCTT	0.418																																						.											0													69	67	68					13																	77714270		2203	4300	6503	SO:0001583	missense	23077			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.7316C>T	13.37:g.77714270G>A	ENSP00000444596:p.Ala2439Val			Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.222024	0.95139	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34667	1.35;1.35;1.35	5.68	5.68	0.88126	.	0.057680	0.64402	N	0.000002	T	0.56529	0.1991	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.55704	-0.8099	10	0.66056	D	0.02	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	2439	O75592	MYCB2_HUMAN	V	2439;2477;2439	ENSP00000349892:A2439V;ENSP00000384288:A2477V;ENSP00000444596:A2439V	ENSP00000349892:A2439V	A	-	2	0	MYCBP2	76612271	1.000000	0.71417	0.989000	0.46669	0.839000	0.47603	9.476000	0.97823	2.673000	0.90976	0.650000	0.86243	GCG		0.418	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		A	77714270	G	A	77714270	3	1	38	1	0	0	0	0	1	0	0	0	10018	1087	38	1	6738	1	MYCBP2	13	77714270	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10	40035665	77714270	37455608	40	2766											
TPP2	7174	ucsc.edu	37	chr13	103288039	103288039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtatttgctcaaggacAtggtattattcaggtattgt	12	15	10	4	0	2	1	2	0	0	1	2	2	2	2	0	3	1	4	0	3	6	7			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:103288039A>G	ENST00000376065.4	+	12	1532	c.1496A>G	c.(1495-1497)cAt>cGt	p.H499R	TPP2_ENST00000376052.3_Missense_Mutation_p.H499R	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	499	Peptidase S8.				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)					GCTCAAGGACATGGTATTATT	0.323																																						.											0													95	97	96					13																	103288039		2203	4300	6503	SO:0001583	missense	7174			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.1496A>G	13.37:g.103288039A>G	ENSP00000365233:p.His499Arg		Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352501	0.61293	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.87809	-2.3;-2.3	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.140126	0.64402	D	0.000004	D	0.82337	0.5015	L	0.39020	1.185	0.80722	D	1	P	0.38677	0.642	B	0.37550	0.253	T	0.81152	-0.1063	10	0.30078	T	0.28	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	499	P29144	TPP2_HUMAN	R	499	ENSP00000365233:H499R;ENSP00000365220:H499R	ENSP00000365220:H499R	H	+	2	0	TPP2	102086040	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.211000	0.89754	2.231000	0.72958	0.460000	0.39030	CAT		0.323	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			G	103288039	A	G	103288039	3	3	38	1	0	0	0	0	1	0	0	0	16409	217	8	4	1542	4	TPP2	13	103288039	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	25573769	103288039	11881839	41	2767											
ACIN1	22985	mdanderson.org	37	chr14	23548793	23548793	+	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	atgctgaacgagaacgtgaaCgtgaccttgatctggactct	11	10	11	9	3	2	5	0	4	2	1	2	7	2	6	1	1	4	1	1	1	3	1	rs80007670	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:23548793C>T	ENST00000262710.1	-	6	2252	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	ACIN1_ENST00000457657.1_Missense_Mutation_p.R602H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R584H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R642H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	642	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)			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)		AGAACGTGAACGTGACCTTGA	0.478																																						.											0								C	HIS/ARG,HIS/ARG,HIS/ARG	6,4400	6.2+/-15.9	0,6,2197	258	226	237		1925,1805,1925	3.2	0.8	14	dbSNP_131	237	24,8576	11.9+/-42.8	0,24,4276	yes	missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_014977.3	29,29,29	0,30,6473	TT,TC,CC		0.2791,0.1362,0.2307	probably-damaging,probably-damaging,probably-damaging	642/1329,602/1302,642/1342	23548793	30,12976	2203	4300	6503	SO:0001583	missense	22985			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.1925G>A	14.37:g.23548793C>T	ENSP00000262710:p.Arg642His		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	9	0.004120879120879121	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	4	0.005277044854881266	C	14.59	2.580077	0.46006	0.001362	0.002791	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29917	2.39;1.55;2.39	5.05	3.18	0.36537	.	0.000000	0.40144	N	0.001165	T	0.20170	0.0485	L	0.27053	0.805	0.26413	N	0.976231	D;D;D	0.67145	0.992;0.986;0.996	P;P;P	0.51582	0.674;0.475;0.572	T	0.04440	-1.0951	10	0.59425	D	0.04	-4.3727	7.238	0.26079	0.0:0.7908:0.0:0.2092	.	642;642;602	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	642;602;642	ENSP00000262710:R642H;ENSP00000405677:R602H;ENSP00000451328:R642H	ENSP00000262710:R642H	R	-	2	0	ACIN1	22618633	0.984000	0.35163	0.847000	0.33407	0.542000	0.35054	0.703000	0.25646	0.669000	0.31146	-0.216000	0.12614	CGT		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23548793	C	T	23548793	3	4	38	1	0	0	0	0	1	0	0	0	142	536	19	1	2303	1	ACIN1	14	23548793	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10		23548793	83800747	42	2768											
MLH3	27030	broad.mit.edu	37	chr14	75513814	75513814	+	Missense_Mutation	SNP	T	T	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	ctccttcagggtcataggacTttctctcaaactaggcatct	9	13	7	12	0	5	0	3	0	2	0	7	1	6	1	1	3	1	1	1	3	3	4			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:75513814T>C	ENST00000556740.1	-	1	2580	c.2545A>G	c.(2545-2547)Agt>Ggt	p.S849G	MLH3_ENST00000355774.2_Missense_Mutation_p.S849G|MLH3_ENST00000238662.7_Missense_Mutation_p.S849G|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.S849G			Q9UHC1	MLH3_HUMAN	mutL homolog 3	849					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)		GTCATAGGACTTTCTCTCAAA	0.403								Mismatch excision repair (MMR)																														.											0													83	88	86					14																	75513814		2203	4300	6503	SO:0001583	missense	27030			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.2545A>G	14.37:g.75513814T>C	ENSP00000452316:p.Ser849Gly		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	9.918	1.211294	0.22289	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.88431	-2.13;-2.26;-2.38;-2.13	5.93	5.93	0.95920	.	0.106980	0.64402	D	0.000004	D	0.88411	0.6429	M	0.68952	2.095	0.80722	D	1	B;B	0.30851	0.231;0.297	B;B	0.34452	0.183;0.129	D	0.87668	0.2539	10	0.72032	D	0.01	-17.858	12.7684	0.57405	0.0:0.0:0.0:1.0	.	849;849	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	G	849	ENSP00000348020:S849G;ENSP00000238662:S849G;ENSP00000451540:S849G;ENSP00000452316:S849G	ENSP00000238662:S849G	S	-	1	0	MLH3	74583567	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.687000	0.46976	2.263000	0.75096	0.533000	0.62120	AGT		0.403	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		C	75513814	T	C	75513814	3	2	38	1	0	0	0	0	1	0	0	0	9618	1609	56	2	1864	2	MLH3	14	75513814	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	51965021	75513814	31835726	43	2769											
FLVCR2	55640	mdanderson.org	37	chr14	76045417	76045418	+	Missense_Mutation	DNP	GG	GG	CA																															tcggtccatcccagcgtctcGgtccatcccagcgtctccat																								rs143304751	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:76045417_76045418GG>CA	ENST00000238667.4	+	1	458_459	c.102_103GG>CA	c.(100-105)tcGGtc>tcCAtc	p.V35I	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	35	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				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)		CCAGCGTCTCGGTCCATCCCAG	0.644																																						.											0																																										SO:0001583	missense	55640			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	Exception_encountered	14.37:g.76045417_76045418delinsCA	ENSP00000238667:p.Val35Ile		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	DNP	ENST00000238667.4	37	CCDS9844.1																																																																																				0.644	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		CA	76045418	GG	CA	76045417	3	2	38	1	0	0	0	0	1	0	0	0	5946	1103	39	5	104	5	FLVCR2	14	76045417	Missense_Mutation	DNP	GG	TCGA-KN-8423-01A-11D-2310-10	531603	76045417	31304123	44	2770											
HSP90AA1	3320	mdanderson.org	37	chr14	102551272	102551272	+	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	ctcttctttttctttttcttCttctttgtcttccttttctt	0	29	1	11	0	8	0	0	0	8	0	9	0	9	0	1	0	0	0	1	0	0	12			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:102551272C>T	ENST00000216281.8	-	5	932	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E365K|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E64K	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	243					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	tctttttcttcttctttgtct	0.388																																						.											0													53	50	51					14																	102551272		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.727G>A	14.37:g.102551272C>T	ENSP00000216281:p.Glu243Lys		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	11.94	1.788323	0.31593	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	3.73	3.73	0.42828	.	0.841759	0.10114	N	0.714232	T	0.42854	0.1221	L	0.37466	1.105	0.42720	D	0.993678	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.13407	0.004;0.009;0.004	T	0.17806	-1.0357	10	0.21014	T	0.42	-20.443	11.761	0.51903	0.0:1.0:0.0:0.0	.	64;365;243	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	K	243;365;64;174	ENSP00000216281:E243K;ENSP00000335153:E365K;ENSP00000396189:E64K;ENSP00000450712:E174K	ENSP00000216281:E243K	E	-	1	0	HSP90AA1	101621025	0.901000	0.30685	0.981000	0.43875	0.591000	0.36615	2.204000	0.42761	2.040000	0.60383	0.591000	0.81541	GAA		0.388	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		T	102551272	C	T	102551272	3	4	38	1	0	0	0	0	1	0	0	0	7401	922	32	4	1499	4	HSP90AA1	14	102551272	Missense_Mutation	SNP	C	TCGA-KN-8423-01A-11D-2310-10	26505855	102551272	4798268	45	2771											
AHNAK2	113146	mdanderson.org	37	chr14	105411957	105411957	+	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	ttggctcctggggcctcgacGtccacctccatgctgggctg	3	10	13	15	2	0	0	0	0	0	0	4	1	3	0	5	4	1	3	5	4	0	1	rs373797895		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105411957G>A	ENST00000333244.5	-	7	9950	c.9831C>T	c.(9829-9831)gaC>gaT	p.D3277D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3277						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.612																																						.											0													110	81	90					14																	105411957		1923	4091	6014	SO:0001819	synonymous_variant	113146			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.9831C>T	14.37:g.105411957G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105411957	G	A	105411957	2	1	38	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105411957	Silent	SNP	G	TCGA-KN-8423-01A-11D-2310-10	2860685	105411957	1937583	46	2772			1	26		2	2	15	N	T_G	2.713427e-05
AHNAK2	113146	mdanderson.org	37	chr14	105411971	105411971	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacgtccacctccatgcTgggctgagacacctccacgt	7	8	9	17	3	0	1	0	1	0	1	4	3	3	1	5	1	1	2	5	1	0	0	rs28737397	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105411971T>C	ENST00000333244.5	-	7	9936	c.9817A>G	c.(9817-9819)Agc>Ggc	p.S3273G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3273						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)			ACCTCCATGCTGGGCTGAGAC	0.632													.|||	1310	0.261581	0.1369	0.3069	5008	,	,		15097	0.0843		0.4851	False		,,,				2504	0.3507					.											0								C	GLY/SER	34,3684		2,30,1827	104	79	87		9817	1.5	0.1	14	dbSNP_125	87	457,6761		37,383,3189	no	missense	AHNAK2	NM_138420.2	56	39,413,5016	CC,CT,TT		6.3314,0.9145,4.4898	benign	3273/5796	105411971	491,10445	1859	3609	5468	SO:0001583	missense	113146			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.9817A>G	14.37:g.105411971T>C	ENSP00000353114:p.Ser3273Gly		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	222	0.10164835164835165	21	0.042682926829268296	49	0.13535911602209943	8	0.013986013986013986	144	0.18997361477572558	N	2.209	-0.381113	0.05000	0.009145	0.063314	ENSG00000185567	ENST00000333244	T	0.00682	5.86	3.87	1.45	0.22620	.	.	.	.	.	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.20261	0.043	B	0.20184	0.028	T	0.33497	-0.9866	8	0.22706	T	0.39	.	6.2963	0.21087	0.0:0.2172:0.0:0.7828	rs28737397	3273	Q8IVF2	AHNK2_HUMAN	G	3273	ENSP00000353114:S3273G	ENSP00000353114:S3273G	S	-	1	0	AHNAK2	104483016	0.007000	0.16637	0.102000	0.21198	0.005000	0.04900	0.903000	0.28475	0.023000	0.15187	-0.502000	0.04539	AGC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105411971	T	C	105411971	3	2	38	1	0	0	0	0	1	0	0	0	415	1580	55	2	7574	2	AHNAK2	14	105411971	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	14	105411971	1937569	47	2773			1	26		2	2	15	N	T_G	2.713427e-05
MTA1	9112	bcgsc.ca	37	chr14	105932850	105932850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccaaggtggcccccgTcatcaacaacggctccccca	8	4	9	20	3	2	0	2	0	0	0	3	0	3	0	6	3	2	1	6	3	3	0			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105932850T>C	ENST00000331320.7	+	17	1926	c.1712T>C	c.(1711-1713)gTc>gCc	p.V571A	MTA1_ENST00000435036.2_Missense_Mutation_p.V107A|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000405646.1_Missense_Mutation_p.V554A|MTA1_ENST00000406191.1_Missense_Mutation_p.V571A	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	571					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTGGCCCCCGTCATCAACAAC	0.697																																						.											0													17	19	18					14																	105932850		2178	4275	6453	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1712T>C	14.37:g.105932850T>C	ENSP00000333633:p.Val571Ala		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735576	0.30774	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036	T;T;T;T;T	0.44881	1.5;1.57;1.49;1.49;0.91	5.12	5.12	0.69794	.	0.152498	0.45361	D	0.000378	T	0.29914	0.0748	L	0.29908	0.895	0.49389	D	0.999785	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.09122	-1.0689	10	0.15952	T	0.53	-42.1318	12.8585	0.57899	0.0:0.0:0.0:1.0	.	363;571	Q59FW1;Q13330	.;MTA1_HUMAN	A	480;571;571;554;363;107	ENSP00000333633:V571A;ENSP00000385702:V571A;ENSP00000384180:V554A;ENSP00000394106:V363A;ENSP00000389425:V107A	ENSP00000333633:V571A	V	+	2	0	MTA1	105003895	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	4.901000	0.63259	1.930000	0.55929	0.459000	0.35465	GTC		0.697	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			C	105932850	T	C	105932850	3	2	38	1	0	0	0	0	1	0	0	0	9908	1667	58	2	1778	2	MTA1	14	105932850	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	520879	105932850	1416690	48	2774											
MGA	23269	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr15	42052530	42052530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttggacaggctccaccaAttcctctaaaactgaagcct	11	11	7	12	0	1	1	0	1	1	0	3	2	3	2	4	2	2	2	4	2	4	3			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr15:42052530A>G	ENST00000570161.1	+	19	7201	c.7201A>G	c.(7201-7203)Att>Gtt	p.I2401V	MGA_ENST00000545763.1_Missense_Mutation_p.I2192V|MGA_ENST00000219905.7_Missense_Mutation_p.I2401V|MGA_ENST00000566586.1_Missense_Mutation_p.I2192V|MGA_ENST00000389936.4_Missense_Mutation_p.I2362V			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)	GGCTCCACCAATTCCTCTAAA	0.463																																						.											0													87	87	87					15																	42052530		1913	4128	6041	SO:0001583	missense	23269			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.7201A>G	15.37:g.42052530A>G	ENSP00000457035:p.Ile2401Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	a	5.324	0.245095	0.10077	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83591	-1.72;-1.73;-1.74	5.53	-11.1	0.00147	.	1.465370	0.04622	N	0.402182	T	0.58524	0.2128	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49370	-0.8947	10	0.32370	T	0.25	.	4.9521	0.14019	0.5099:0.0734:0.2689:0.1478	.	1017;2192;2401	B4DVS1;F5H7K2;E7ENI0	.;.;.	V	2401;2362;2192	ENSP00000219905:I2401V;ENSP00000374586:I2362V;ENSP00000442467:I2192V	ENSP00000219905:I2401V	I	+	1	0	MGA	39839822	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.442000	0.01014	-2.453000	0.00541	-1.779000	0.00650	ATT		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		G	42052530	A	G	42052530	3	3	38	1	0	0	0	0	1	0	0	0	9540	101	4	4	7275	4	MGA	15	42052530	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		42052530	60478862	49	2775											
METTL9	51108	hgsc.bcm.edu	37	chr16	21611112	21611112	+	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	cgtccgtgtggctggcgcggAggatgtggacgctgcggagc	4	7	20	10	6	0	0	0	0	0	0	1	4	1	4	1	6	2	2	1	6	0	0	rs200797380		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:21611112A>T	ENST00000358154.3	+	1	316	c.58A>T	c.(58-60)Agg>Tgg	p.R20W	METTL9_ENST00000396014.4_Missense_Mutation_p.R20W	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	20										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GCTGGCGCGGAGGATGTGGAC	0.756																																						.											0								A	TRP/ARG,TRP/ARG	0,3834		0,0,1917	6	8	8		58,58	4.4	1	16		8	11,7793		0,11,3891	yes	missense,missense	METTL9	NM_001077180.1,NM_016025.3	101,101	0,11,5808	TT,TA,AA		0.141,0.0,0.0945	probably-damaging,probably-damaging	20/318,20/319	21611112	11,11627	1917	3902	5819	SO:0001583	missense	51108			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.58A>T	16.37:g.21611112A>T	ENSP00000350874:p.Arg20Trp		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	A	17.97	3.519579	0.64634	0.0	0.00141	ENSG00000197006	ENST00000358154;ENST00000396014	.	.	.	4.43	4.43	0.53597	.	0.187364	0.45867	U	0.000328	T	0.50154	0.1599	N	0.24115	0.695	0.37282	D	0.907887	P;D	0.63046	0.939;0.992	B;P	0.55545	0.427;0.778	T	0.60372	-0.7276	9	0.87932	D	0	-4.0636	10.3188	0.43753	1.0:0.0:0.0:0.0	.	20;20	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	W	20	.	ENSP00000350874:R20W	R	+	1	2	METTL9	21518613	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.133000	0.31430	1.742000	0.51746	0.391000	0.25812	AGG		0.756	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		T	21611112	A	T	21611112	3	4	38	1	0	0	0	0	1	0	0	0	9508	295	11	5	60	5	METTL9	16	21611112	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		21611112	68743641	50	2776											
FHOD1	29109	bcgsc.ca	37	chr16	67271285	67271285	+	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	gtccgggagcgccgccagcgTctggagggcggggataagaa	8	4	19	10	5	1	1	0	0	1	1	2	4	2	4	3	5	2	0	3	5	2	1			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:67271285T>C	ENST00000258201.4	-	9	1097	c.850A>G	c.(850-852)Acg>Gcg	p.T284A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	284	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCCGCCAGCGTCTGGAGGGCG	0.647																																						.											0													53	55	54					16																	67271285		2198	4300	6498	SO:0001630	splice_region_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.850-1A>G	16.37:g.67271285T>C			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315632	0.60524	.	.	ENSG00000135723	ENST00000258201	T	0.24908	1.83	5.36	5.36	0.76844	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.111140	0.64402	D	0.000014	T	0.45736	0.1357	L	0.52905	1.665	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.37244	-0.9714	10	0.54805	T	0.06	.	14.4938	0.67670	0.0:0.0:0.0:1.0	.	284	Q9Y613	FHOD1_HUMAN	A	284	ENSP00000258201:T284A	ENSP00000258201:T284A	T	-	1	0	FHOD1	65828786	1.000000	0.71417	0.985000	0.45067	0.224000	0.24922	6.173000	0.71937	2.154000	0.67381	0.533000	0.62120	ACG		0.647	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2		Missense_Mutation	C	67271285	T	C	67271285	5	2	38	1	0	0	0	0	0	0	1	0	5882	1681	58	2	2700	2	FHOD1	16	67271285	Splice_Site	SNP	T	TCGA-KN-8423-01A-11D-2310-10	45660173	67271285	23083468	51	2777											
TMCO7	79613	bcgsc.ca	37	chr16	68961955	68961955	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatagagcagagagaagcaaAagcccttgagatgcaagaga	18	4	13	6	0	0	5	0	1	0	5	0	9	0	5	1	0	4	3	1	0	5	2			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:68961955A>G	ENST00000261778.1	+	13	2624	c.2612A>G	c.(2611-2613)aAa>aGa	p.K871R	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	871						integral component of membrane (GO:0016021)											AGAGAAGCAAAAGCCCTTGAG	0.483																																						.											0													31	29	30					16																	68961955		1898	4138	6036	SO:0001583	missense	79613				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.2612A>G	16.37:g.68961955A>G	ENSP00000261778:p.Lys871Arg		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475124	0.26511	.	.	ENSG00000103047	ENST00000261778	T	0.64991	-0.13	5.37	3.02	0.34903	Armadillo-like helical (1);Armadillo-type fold (1);	0.443179	0.27433	N	0.019385	T	0.30854	0.0778	N	0.04508	-0.205	0.23336	N	0.997886	B	0.02656	0.0	B	0.04013	0.001	T	0.14504	-1.0470	10	0.13853	T	0.58	-3.9361	3.9605	0.09409	0.6643:0.0:0.1851:0.1506	.	871	Q9C0B7	TMCO7_HUMAN	R	871	ENSP00000261778:K871R	ENSP00000261778:K871R	K	+	2	0	TMCO7	67519456	0.127000	0.22367	0.584000	0.28653	0.998000	0.95712	1.029000	0.30140	0.317000	0.23160	0.533000	0.62120	AAA		0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		G	68961955	A	G	68961955	3	3	38	1	0	0	0	0	1	0	0	0	15998	14	1	4	2662	4	TMCO7	16	68961955	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	1690670	68961955	21392798	52	2778											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	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	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	10	10	12	9	1	0	0	0	0	0	0	0	2	0	2	2	2	3	5	2	2	4	4			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)	CAGGAACTGTTACACATGTAG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)											133	104	114					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	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;	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.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp		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	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	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	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577566	T	C	7577566	3	2	38	1	0	0	0	0	1	0	0	0	16378	1754	61	4	575	4	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10		7577566	73617644	53	2779											
ZNF555	148254	broad.mit.edu;hgsc.bcm.edu	37	chr19	2853382	2853382	+	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	caattggcccatatctttacGaaaacatatgagaacacata	17	10	5	9	1	1	1	0	1	1	1	1	3	1	1	1	1	3	0	1	1	8	6	rs557630264		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:2853382G>A	ENST00000334241.4	+	4	1457	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	ZNF555_ENST00000591539.1_Missense_Mutation_p.R439Q|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	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(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)		ATATCTTTACGAAAACATATG	0.453													G|||	1	0.000199681	0	0	5008	,	,		24089	0.001		0	False		,,,				2504	0					.											0													60	52	54					19																	2853382		2203	4300	6503	SO:0001583	missense	148254			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.1319G>A	19.37:g.2853382G>A	ENSP00000334853:p.Arg440Gln		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572211	0.28092	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.04275	3.66	3.22	-0.334	0.12666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.13168	0.305	0.09310	N	1	P;P	0.39157	0.662;0.638	B;B	0.24394	0.039;0.053	T	0.46775	-0.9167	9	0.21540	T	0.41	.	3.8104	0.08795	0.2611:0.4116:0.3272:0.0	.	440;439	Q8NEP9;A8KA89	ZN555_HUMAN;.	Q	440;439	ENSP00000334853:R440Q	ENSP00000334853:R440Q	R	+	2	0	ZNF555	2804382	0.000000	0.05858	0.001000	0.08648	0.814000	0.46013	-1.600000	0.02083	0.158000	0.19367	0.561000	0.74099	CGA		0.453	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		A	2853382	G	A	2853382	3	1	38	1	0	0	0	0	1	0	0	0	17983	1058	37	1	1333	1	ZNF555	19	2853382	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10		2853382	56275601	54	2780											
MUC16	94025	mdanderson.org	37	chr19	9005616	9005616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctcagtgatgctgtGggtcagctggctcagctccc	5	10	12	14	0	3	1	3	1	0	0	5	1	5	1	2	2	4	5	2	2	0	0	rs78831402		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:9005616G>T	ENST00000397910.4	-	46	39993	c.39790C>A	c.(39790-39792)Cac>Aac	p.H13264N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13266	SEA 8. {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						GTGATGCTGTGGGTCAGCTGG	0.562																																						.											0													168	152	157					19																	9005616		2047	4181	6228	SO:0001583	missense	94025			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.39790C>A	19.37:g.9005616G>T	ENSP00000381008:p.His13264Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.713	-0.268436	0.05716	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.35605	1.3	3.14	0.596	0.17496	SEA (1);	.	.	.	.	T	0.40645	0.1125	.	.	.	.	.	.	B;P	0.39044	0.001;0.656	B;P	0.48627	0.005;0.584	T	0.53837	-0.8382	7	0.87932	D	0	-0.3413	7.148	0.25593	0.0:0.0:0.5152:0.4848	.	20909;13264	Q8WXI7;B5ME49	MUC16_HUMAN;.	N	13264;395	ENSP00000381008:H13264N	ENSP00000381008:H13264N	H	-	1	0	MUC16	8866616	0.001000	0.12720	0.028000	0.17463	0.040000	0.13550	0.565000	0.23578	0.601000	0.29879	-0.373000	0.07131	CAC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9005616	G	T	9005616	3	4	38	1	0	0	0	0	1	0	0	0	9973	1348	47	5	3889	5	MUC16	19	9005616	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10	6152234	9005616	50123367	55	2781											
MUC16	94025	mdanderson.org	37	chr19	9018508	9018508	+	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	atgcatgtcctcctcatactTcaggttggtgatggtgaagt	8	14	11	8	0	2	2	2	2	0	0	4	2	4	2	2	3	2	2	2	3	2	3	rs74488264		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:9018508T>G	ENST00000397910.4	-	24	37869	c.37666A>C	c.(37666-37668)Aag>Cag	p.K12556Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12558	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTCATACTTCAGGTTGGTG	0.512																																						.											0													234	198	209					19																	9018508		1978	4180	6158	SO:0001583	missense	94025			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.37666A>C	19.37:g.9018508T>G	ENSP00000381008:p.Lys12556Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.033	0.762173	0.15914	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	2.01	-4.02	0.04034	.	.	.	.	.	T	0.05547	0.0146	N	0.00138	-2.015	.	.	.	B	0.20052	0.041	B	0.09377	0.004	T	0.32534	-0.9903	8	0.87932	D	0	.	2.4995	0.04630	0.3117:0.0:0.2615:0.4268	.	12556	B5ME49	.	Q	12556	ENSP00000381008:K12556Q	ENSP00000381008:K12556Q	K	-	1	0	MUC16	8879508	0.000000	0.05858	0.008000	0.14137	0.336000	0.28762	-1.612000	0.02061	-0.971000	0.03564	0.164000	0.16699	AAG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9018508	T	G	9018508	3	3	38	1	0	0	0	0	1	0	0	0	9973	1792	62	5	6101	5	MUC16	19	9018508	Missense_Mutation	SNP	T	TCGA-KN-8423-01A-11D-2310-10	12892	9018508	50110475	56	2782											
ZNF20	7568	broad.mit.edu	37	chr19	12244276	12244276	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttctttcatgtactggaAgggtagtggaacgagtaaag	12	11	14	4	1	2	0	1	0	1	0	2	4	2	2	0	3	2	4	0	3	6	5			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:12244276A>G	ENST00000334213.5	-	4	949	c.725T>C	c.(724-726)cTt>cCt	p.L242P	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						ATGTACTGGAAGGGTAGTGGA	0.378																																						.											0													89	93	91					19																	12244276		2153	4270	6423	SO:0001583	missense	7568			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.725T>C	19.37:g.12244276A>G	ENSP00000335437:p.Leu242Pro		Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.987020	0.35036	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.26660	1.72	0.94	0.94	0.19513	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46328	0.1387	M	0.89534	3.04	0.09310	N	0.999996	D	0.65815	0.995	P	0.56514	0.8	T	0.30446	-0.9978	9	0.87932	D	0	.	6.0337	0.19694	1.0:0.0:0.0:0.0	.	242	P17024	ZNF20_HUMAN	P	242	ENSP00000335437:L242P	ENSP00000292241:L242P	L	-	2	0	ZNF20	12105276	0.023000	0.18921	0.001000	0.08648	0.153000	0.21895	3.031000	0.49728	0.654000	0.30846	0.260000	0.18958	CTT		0.378	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		G	12244276	A	G	12244276	3	3	38	1	0	0	0	0	1	0	0	0	17758	72	3	2	877	2	ZNF20	19	12244276	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	3225768	12244276	46884707	57	2783											
CRTC1	23373	broad.mit.edu	37	chr19	18879483	18879483	+	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	cctggtggccccctgttgccCagcgccagcctgactcgtgg	3	8	13	17	2	0	1	0	1	0	0	1	1	0	1	6	3	3	1	6	3	0	1			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:18879483C>T	ENST00000321949.8	+	10	1226	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	CRTC1_ENST00000594658.1_Silent_p.P359P|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000338797.6_Silent_p.P416P	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						CCCTGTTGCCCAGCGCCAGCC	0.756																																						.											0													9	9	9					19																	18879483		2174	4238	6412	SO:0001819	synonymous_variant	23373			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.1200C>T	19.37:g.18879483C>T				Silent	SNP	ENST00000321949.8	37	CCDS32963.1																																																																																				0.756	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		T	18879483	C	T	18879483	2	4	38	1	0	0	0	0	0	0	0	1	3899	581	21	4		4	CRTC1	19	18879483	Silent	SNP	C	TCGA-KN-8423-01A-11D-2310-10	6635207	18879483	40249500	58	2784											
GAPDHS	26330	hgsc.bcm.edu	37	chr19	36033313	36033313	+	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	ctccatacaggcagcttcggTaagctggggagaggtgccca	9	7	14	11	1	0	1	0	0	0	1	2	2	1	1	2	5	4	4	2	5	2	3	rs558746420	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:36033313T>C	ENST00000222286.4	+	5	656		c.e5+2		AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic						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)			GCAGCTTCGGTAAGCTGGGGA	0.637																																						.											0													43	42	42					19																	36033313		2203	4300	6503	SO:0001630	splice_region_variant	26330			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.540+2T>C	19.37:g.36033313T>C			B2RC82|O60823|Q6JTT9|Q9HCU6	Splice_Site	SNP	ENST00000222286.4	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031348	0.75504	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8058	0.52155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPDHS	40725153	1.000000	0.71417	0.798000	0.32154	0.842000	0.47809	7.479000	0.81095	2.115000	0.64714	0.379000	0.24179	.		0.637	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364	Intron	C	36033313	T	C	36033313	5	2	38	1	0	0	0	0	0	0	1	0	6237	1652	57	2	560	2	GAPDHS	19	36033313	Splice_Site	SNP	T	TCGA-KN-8423-01A-11D-2310-10	17153830	36033313	23095670	59	2785											
PTPRA	5786	broad.mit.edu;bcgsc.ca	37	chr20	2998555	2998555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccaacctgaaggagagaaAggaggtaagtggaaaaattg	18	6	13	4	0	0	2	0	1	0	1	0	6	0	5	2	4	2	1	2	4	7	3			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:2998555A>G	ENST00000216877.6	+	12	1410	c.1010A>G	c.(1009-1011)aAg>aGg	p.K337R	PTPRA_ENST00000356147.3_Missense_Mutation_p.K337R|PTPRA_ENST00000358719.4_Missense_Mutation_p.K202R|PTPRA_ENST00000318266.5_Missense_Mutation_p.K337R|PTPRA_ENST00000380393.3_Missense_Mutation_p.K346R|PTPRA_ENST00000425918.2_Missense_Mutation_p.K357R|PTPRA_ENST00000399903.2_Missense_Mutation_p.K346R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	346	Tyrosine-protein phosphatase 1. {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						AAGGAGAGAAAGGAGGTAAGT	0.453																																						.											0													99	90	93					20																	2998555		2203	4300	6503	SO:0001583	missense	5786				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.1010A>G	20.37:g.2998555A>G	ENSP00000216877:p.Lys337Arg		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.895360	0.91962	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.93	5.93	0.95920	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.28566	0.0707	L	0.49455	1.56	0.80722	D	1	P;D;P	0.61697	0.834;0.99;0.85	P;D;P	0.71870	0.512;0.975;0.51	T	0.00473	-1.1718	10	0.72032	D	0.01	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	357;346;337	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	R	346;337;346;202;357;337;337	ENSP00000369756:K346R;ENSP00000216877:K337R;ENSP00000382787:K346R;ENSP00000351559:K202R;ENSP00000393553:K357R;ENSP00000314568:K337R;ENSP00000348468:K337R	ENSP00000216877:K337R	K	+	2	0	PTPRA	2946555	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.204000	0.77872	2.281000	0.76405	0.533000	0.62120	AAG		0.453	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			G	2998555	A	G	2998555	3	3	38	1	0	0	0	0	1	0	0	0	12795	72	3	2	1075	2	PTPRA	20	2998555	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10		2998555	60026965	60	2786											
NCOA3	8202	mdanderson.org	37	chr20	46279863	46279863	+	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	cagcagcagcagcagcagcaGcaacagcaacagcaacagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs578139784|rs112826888|rs573532891	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:46279863G>A	ENST00000371998.3	+	20	3980	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q	NCOA3_ENST00000372004.3_Silent_p.Q1259Q|NCOA3_ENST00000371997.3_Silent_p.Q1254Q|NCOA3_ENST00000341724.6_Silent_p.Q1189Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1263	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						agcagcagcagcaacagcaac	0.567													G|||	14	0.00279553	0.0076	0.0014	5008	,	,		14322	0.003		0	False		,,,				2504	0					.											0													58	62	60					20																	46279863		2203	4300	6503	SO:0001819	synonymous_variant	8202			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.3789G>A	20.37:g.46279863G>A			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	46279863	G	A	46279863	2	1	38	1	0	0	0	0	0	0	0	1	10230	962	34	4		4	NCOA3	20	46279863	Silent	SNP	G	TCGA-KN-8423-01A-11D-2310-10	43281308	46279863	16745657	61	2787											
KRTAP10-2	386679	mdanderson.org	37	chr21	45970772	45970772	+	Silent	SNP	A	A	G																															cagatggacttgcagcagacAggcttgcagcagacggacac																								rs76021731|rs67692969|rs71199610	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr21:45970772A>G	ENST00000391621.1	-	1	616	c.570T>C	c.(568-570)ccT>ccC	p.P190P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGCAGCAGACAGGCTTGCAGC	0.607																																						.											0													111	112	112					21																	45970772		2192	4282	6474	SO:0001819	synonymous_variant	386679			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.570T>C	21.37:g.45970772A>G			Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																				0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			G	45970772	A	G	45970772	2	3	38	1	0	0	0	0	0	0	0	1	8509	175	7	2		2	KRTAP10-2	21	45970772	Silent	SNP	A	TCGA-KN-8423-01A-11D-2310-10		45970772	2159123	62	2788	79	2									
KRTAP10-2	386679	mdanderson.org	37	chr21	45970774	45970774	+	Missense_Mutation	SNP	G	G	A																															gatggacttgcagcagacagGcttgcagcagacggacacac																								rs76536096|rs67692969|rs71199610	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr21:45970774G>A	ENST00000391621.1	-	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCAGACAGGCTTGCAGCAG	0.607																																						.											0													110	112	111					21																	45970774		2192	4279	6471	SO:0001583	missense	386679			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.568C>T	21.37:g.45970774G>A	ENSP00000375479:p.Pro190Ser		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	9.523	1.108901	0.20714	.	.	ENSG00000205445	ENST00000391621	T	0.01705	4.68	3.28	0.222	0.15288	.	.	.	.	.	T	0.02083	0.0065	L	0.49455	1.56	0.09310	N	1	B	0.26672	0.156	B	0.24394	0.053	T	0.42310	-0.9459	9	0.62326	D	0.03	.	4.9369	0.13944	0.2108:0.1755:0.6137:0.0	.	190	P60368	KR102_HUMAN	S	190	ENSP00000375479:P190S	ENSP00000375479:P190S	P	-	1	0	KRTAP10-2	44795202	0.105000	0.21958	0.000000	0.03702	0.002000	0.02628	1.284000	0.33249	-0.177000	0.10690	0.462000	0.41574	CCT		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			A	45970774	G	A	45970774	3	1	38	1	0	0	0	0	1	0	0	0	8509	1203	42	3	203	3	KRTAP10-2	21	45970774	Missense_Mutation	SNP	G	TCGA-KN-8423-01A-11D-2310-10	2	45970774	2159121	63	2789	79	2									
NEFH	4744	ucsc.edu;mdanderson.org	37	chr22	29885594	29885594	+	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	cctgagaaggccaagtccccAgagaaggaagaggccaagtc	14	3	13	11	0	0	3	0	1	0	3	2	6	1	4	5	3	0	0	5	3	5	0	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:29885594A>T	ENST00000310624.6	+	4	1998	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	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						CCAAGTCCCCAGAGAAGGAAG	0.552																																						.											0													83	92	89					22																	29885594		2203	4300	6503	SO:0001819	synonymous_variant	4744				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.1965A>T	22.37:g.29885594A>T			B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																				0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885594	A	T	29885594	2	4	38	1	0	0	0	0	0	0	0	1	10314	175	7	5		5	NEFH	22	29885594	Silent	SNP	A	TCGA-KN-8423-01A-11D-2310-10		29885594	21418972	64	2790											
ENTHD1	150350	broad.mit.edu	37	chr22	40161248	40161248	+	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	cccgtgtggttgtcttgaggAttttatcatccatctgaatg	7	16	10	8	1	3	2	1	2	2	0	4	3	4	3	2	2	0	1	2	2	2	4			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:40161248A>T	ENST00000325157.6	-	6	1449	c.1199T>A	c.(1198-1200)aTc>aAc	p.I400N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	400								p.I400N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTCTTGAGGATTTTATCATC	0.418																																						.											1	Substitution - Missense(1)	kidney(1)											89	87	88					22																	40161248		2203	4300	6503	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1199T>A	22.37:g.40161248A>T	ENSP00000317431:p.Ile400Asn		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	1.041	-0.678824	0.03378	.	.	ENSG00000176177	ENST00000325157	T	0.42900	0.96	5.91	-1.79	0.07932	.	4.854570	0.00397	N	0.000047	T	0.17662	0.0424	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09378	-1.0677	10	0.23302	T	0.38	0.181	4.1611	0.10284	0.2446:0.291:0.0:0.4644	.	400	Q8IYW4	ENTD1_HUMAN	N	400	ENSP00000317431:I400N	ENSP00000317431:I400N	I	-	2	0	ENTHD1	38491194	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-1.009000	0.03660	-0.427000	0.07350	-0.339000	0.08088	ATC		0.418	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		T	40161248	A	T	40161248	3	4	38	1	0	0	0	0	1	0	0	0	5137	333	12	5	632	5	ENTHD1	22	40161248	Missense_Mutation	SNP	A	TCGA-KN-8423-01A-11D-2310-10	10275654	40161248	11143318	65	2791											
LOC440563	0	mdanderson.org	37	chr1	13183530	13183530	+	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	atcataataatcccgttgaaAgccatagtccaagtcaaaag	17	9	6	9	1	2	1	2	1	0	0	4	1	4	1	3	0	1	1	3	0	7	4	rs200046163		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:13183530A>G								RP13-221M14.3 (19062 upstream) : PRAMEF26 (32825 downstream)																							TCCCGTTGAAAGCCATAGTCC	0.517																																						.											0													91	72	78					1																	13183530		692	1591	2283	SO:0001628	intergenic_variant	0																															1.37:g.13183530A>G				Missense_Mutation	SNP		37																																																																																				0	0.517									G	13183530	A	G	13183530	1	3	39	0	1	0	0	0	0	0	0	0	8879	72	3	2		2	LOC440563	1	13183530	IGR	SNP	A	TCGA-KN-8424-01A-11D-2310-10		13183530	236067091	1	2792											
ZSCAN20	7579	bcgsc.ca	37	chr1	33958892	33958892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccagaacagccaggtgtAccgggccattgcagagcggc	10	5	13	13	2	1	2	1	0	0	2	1	2	1	2	4	3	5	2	4	3	2	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:33958892A>G	ENST00000361328.3	+	7	1703	c.1550A>G	c.(1549-1551)tAc>tGc	p.Y517C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	517					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCCAGGTGTACCGGGCCATT	0.567																																						.											0													45	48	47					1																	33958892		2024	4195	6219	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1550A>G	1.37:g.33958892A>G	ENSP00000355053:p.Tyr517Cys		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005441	0.74932	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.7	5.7	0.88788	SANT domain, DNA binding (1);	0.000000	0.53938	D	0.000043	T	0.81964	0.4934	M	0.90082	3.085	0.42241	D	0.991931	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85761	0.1349	9	0.87932	D	0	-26.9717	12.6654	0.56840	1.0:0.0:0.0:0.0	.	516;517	P17040-3;P17040	.;ZSC20_HUMAN	C	517;451;451	.	ENSP00000324450:Y517C	Y	+	2	0	ZSCAN20	33731479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.791000	0.62460	2.308000	0.77769	0.533000	0.62120	TAC		0.567	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		G	33958892	A	G	33958892	3	3	39	1	0	0	0	0	1	0	0	0	18229	391	14	2	1572	2	ZSCAN20	1	33958892	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	20775362	33958892	215291729	2	2793											
CLCA1	1179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	86954776	86954776	+	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	gtgctttaacgaggtcaaacAaagtggtgccatcatccaca	13	9	9	10	1	2	0	2	0	0	0	3	1	3	0	2	2	4	1	2	2	3	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:86954776A>T	ENST00000234701.3	+	9	1631	c.1280A>T	c.(1279-1281)cAa>cTa	p.Q427L	CLCA1_ENST00000394711.1_Missense_Mutation_p.Q427L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	427	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		GAGGTCAAACAAAGTGGTGCC	0.478																																						.											0													112	105	107					1																	86954776		2203	4300	6503	SO:0001583	missense	1179				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.1280A>T	1.37:g.86954776A>T	ENSP00000234701:p.Gln427Leu		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613034	0.28712	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.15017	2.46;2.46	5.68	5.68	0.88126	von Willebrand factor, type A (3);	0.627114	0.16134	N	0.228078	T	0.16769	0.0403	M	0.73217	2.22	0.09310	N	1	B;B	0.34399	0.452;0.452	P;B	0.45913	0.497;0.428	T	0.21280	-1.0250	10	0.56958	D	0.05	-0.6591	9.4357	0.38637	0.9193:0.0:0.0807:0.0	.	427;190	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	L	427;427;140	ENSP00000234701:Q427L;ENSP00000378200:Q427L	ENSP00000234701:Q427L	Q	+	2	0	CLCA1	86727364	0.002000	0.14202	0.086000	0.20670	0.092000	0.18411	1.751000	0.38339	2.152000	0.67230	0.533000	0.62120	CAA		0.478	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		T	86954776	A	T	86954776	3	4	39	1	0	0	0	0	1	0	0	0	3457	130	5	5	1310	5	CLCA1	1	86954776	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	52995884	86954776	162295845	3	2794											
WNT2B	7482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	113062943	113062943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtctgcagcaagacatcaAaaggaacagacggttgtgaa	15	7	12	7	1	2	3	1	1	1	2	2	4	2	4	0	2	3	3	0	2	5	1			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:113062943A>G	ENST00000369684.4	+	5	1473	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	WNT2B_ENST00000256640.5_Missense_Mutation_p.K238E|WNT2B_ENST00000369686.5_Missense_Mutation_p.K311E|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	330					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGACATCAAAAGGAACAGA	0.537																																						.											0													137	105	116					1																	113062943		2203	4300	6503	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.988A>G	1.37:g.113062943A>G	ENSP00000358698:p.Lys330Glu		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	A	9.252	1.041024	0.19669	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.75477	-0.94;-0.94;-0.94	5.57	4.47	0.54385	.	0.054833	0.64402	D	0.000001	T	0.33990	0.0882	L	0.31804	0.96	0.30339	N	0.785926	B;P	0.39940	0.066;0.696	B;B	0.32624	0.099;0.149	T	0.39418	-0.9615	10	0.05620	T	0.96	.	11.4493	0.50142	0.7642:0.2358:0.0:0.0	.	330;311	Q93097;Q93097-2	WNT2B_HUMAN;.	E	238;311;330	ENSP00000256640:K238E;ENSP00000358700:K311E;ENSP00000358698:K330E	ENSP00000256640:K238E	K	+	1	0	WNT2B	112864466	0.981000	0.34729	0.999000	0.59377	0.995000	0.86356	2.699000	0.47077	2.102000	0.63906	0.533000	0.62120	AAA		0.537	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		G	113062943	A	G	113062943	3	3	39	1	0	0	0	0	1	0	0	0	17384	15	1	4	1139	4	WNT2B	1	113062943	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	26108167	113062943	136187678	4	2795											
RPTN	126638	broad.mit.edu	37	chr1	152127952	152127952	+	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	ccatagtgggaactctggccTtgtctgtccatctgactgta	7	13	10	11	0	3	1	0	1	3	0	4	2	4	2	3	2	1	1	3	2	3	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:152127952T>C	ENST00000316073.3	-	3	1687	c.1623A>G	c.(1621-1623)caA>caG	p.Q541Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	541	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AACTCTGGCCTTGTCTGTCCA	0.522																																						.											0													778	685	713					1																	152127952		1568	3582	5150	SO:0001819	synonymous_variant	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1623A>G	1.37:g.152127952T>C			B7ZBZ3	Silent	SNP	ENST00000316073.3	37	CCDS41397.1																																																																																				0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		C	152127952	T	C	152127952	2	2	39	1	0	0	0	0	0	0	0	1	13664	1606	56	2		2	RPTN	1	152127952	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	39065009	152127952	97122669	5	2796											
KIRREL	55243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	158056511	158056511	+	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	gccatccctagtggcaaggaGacttccatcgagctggatgt	9	9	12	11	1	0	1	0	0	0	1	3	4	2	2	3	3	1	2	3	3	2	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:158056511G>A	ENST00000359209.6	+	5	703	c.636G>A	c.(634-636)gaG>gaA	p.E212E	KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000368172.1_Silent_p.E10E|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000368173.3_Silent_p.E212E|KIRREL_ENST00000416935.2_Silent_p.E112E			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	212	Ig-like C2-type 2.				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)					GTGGCAAGGAGACTTCCATCG	0.567																																						.											0													116	93	100					1																	158056511		692	1591	2283	SO:0001819	synonymous_variant	55243			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.636G>A	1.37:g.158056511G>A			Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	CCDS1172.2																																																																																				0.567	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		A	158056511	G	A	158056511	2	1	39	1	0	0	0	0	0	0	0	1	8324	933	33	4		4	KIRREL	1	158056511	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	5928559	158056511	91194110	6	2797											
OR6N2	81442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	158746533	158746533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcctcttgatagctttaAtgatttccttgttacgaaga	9	17	8	7	1	1	3	0	2	1	1	3	4	3	3	2	1	2	2	2	1	4	7			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:158746533A>G	ENST00000339258.1	-	1	892	c.893T>C	c.(892-894)aTt>aCt	p.I298T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, 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)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GATAGCTTTAATGATTTCCTT	0.408																																						.											0													169	161	164					1																	158746533		2203	4300	6503	SO:0001583	missense	81442			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.893T>C	1.37:g.158746533A>G	ENSP00000344101:p.Ile298Thr		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	A	4.818	0.152112	0.09185	.	.	ENSG00000188340	ENST00000339258	T	0.37058	1.22	4.64	4.64	0.57946	.	.	.	.	.	T	0.08670	0.0215	N	0.10916	0.065	0.27967	N	0.936542	B	0.25007	0.116	B	0.21546	0.035	T	0.14227	-1.0480	9	0.72032	D	0.01	-8.8046	7.5695	0.27898	0.8098:0.0:0.0:0.1902	.	298	Q8NGY6	OR6N2_HUMAN	T	298	ENSP00000344101:I298T	ENSP00000344101:I298T	I	-	2	0	OR6N2	157013157	0.942000	0.31987	1.000000	0.80357	0.176000	0.22953	1.575000	0.36493	1.928000	0.55862	0.528000	0.53228	ATT		0.408	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			G	158746533	A	G	158746533	3	3	39	1	0	0	0	0	1	0	0	0	11207	101	4	4	63	4	OR6N2	1	158746533	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	690022	158746533	90504088	7	2798											
C1orf27	54953	ucsc.edu	37	chr1	186388183	186388183	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtccttgctgcgggtaTctcctttcattacttcagtg	5	16	9	11	1	3	0	2	0	1	0	5	0	4	0	2	1	4	3	2	1	2	5			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:186388183T>C	ENST00000287859.6	+	14	1465	c.1340T>C	c.(1339-1341)aTc>aCc	p.I447T	C1orf27_ENST00000419367.3_Missense_Mutation_p.I415T|C1orf27_ENST00000461662.1_3'UTR|C1orf27_ENST00000432021.3_Missense_Mutation_p.I424T|C1orf27_ENST00000367470.3_Missense_Mutation_p.I424T	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	447						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GCTGCGGGTATCTCCTTTCAT	0.363																																						.											0													146	126	133					1																	186388183		1914	4127	6041	SO:0001583	missense	54953			BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.1340T>C	1.37:g.186388183T>C	ENSP00000287859:p.Ile447Thr		B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	CCDS53448.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356748	0.41801	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000287859	T;T	0.51325	0.71;0.71	5.39	5.39	0.77823	.	0.553136	0.17798	N	0.161668	T	0.35970	0.0950	L	0.29908	0.895	0.34646	D	0.721136	P;B;B	0.36282	0.546;0.404;0.404	B;B;B	0.32980	0.156;0.109;0.156	T	0.54807	-0.8238	10	0.72032	D	0.01	-1.0242	11.7953	0.52096	0.0:0.0:0.0:1.0	.	415;424;447	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	T	424;415;447	ENSP00000395084:I415T;ENSP00000287859:I447T	ENSP00000287859:I447T	I	+	2	0	C1orf27	184654806	0.998000	0.40836	0.881000	0.34555	0.682000	0.39822	3.937000	0.56575	2.046000	0.60703	0.477000	0.44152	ATC		0.363	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		C	186388183	T	C	186388183	3	2	39	1	0	0	0	0	1	0	0	0	2036	1435	50	4	1390	4	C1orf27	1	186388183	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	27641650	186388183	62862438	8	2799											
KLHL12	59349	bcgsc.ca	37	chr1	202888918	202888918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggctgcaggaagcagtTcttgtacattctccactgtc	9	11	10	11	0	2	0	0	0	2	0	4	2	2	1	1	2	3	5	1	2	2	4			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:202888918T>C	ENST00000367261.3	-	3	532	c.314A>G	c.(313-315)gAa>gGa	p.E105G	KLHL12_ENST00000435533.3_Missense_Mutation_p.E143G	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	105					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGAAGCAGTTCTTGTACATT	0.388																																						.											0													97	84	89					1																	202888918		2203	4300	6503	SO:0001583	missense	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.314A>G	1.37:g.202888918T>C	ENSP00000356230:p.Glu105Gly		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690626	0.68271	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.71341	-0.56;-0.56;-0.56	5.55	5.55	0.83447	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	N	0.14661	0.345	0.80722	D	1	B;D;D	0.62365	0.026;0.991;0.991	B;D;D	0.74023	0.036;0.982;0.982	T	0.70579	-0.4833	10	0.25106	T	0.35	.	15.9826	0.80125	0.0:0.0:0.0:1.0	.	143;143;105	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	G	105;143;143	ENSP00000356230:E105G;ENSP00000416886:E143G;ENSP00000356227:E143G	ENSP00000356227:E143G	E	-	2	0	KLHL12	201155541	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	8.040000	0.89188	2.235000	0.73313	0.460000	0.39030	GAA		0.388	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		C	202888918	T	C	202888918	3	2	39	1	0	0	0	0	1	0	0	0	8368	1783	62	4	1432	4	KLHL12	1	202888918	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	16500735	202888918	46361703	9	2800											
MARCO	8685	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	119731958	119731958	+	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	atgcctggtgcccctggcccGccgggaccacctgctgagaa	6	6	13	16	2	0	1	0	1	0	1	0	3	0	2	7	3	3	1	7	3	1	0	rs140866852	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:119731958G>A	ENST00000327097.4	+	5	645	c.510G>A	c.(508-510)ccG>ccA	p.P170P	MARCO_ENST00000541757.1_Silent_p.P92P	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	170	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCCTGGCCCGCCGGGACCAC	0.567													G|||	2	0.000399361	0	0	5008	,	,		18864	0.001		0.001	False		,,,				2504	0				GBM(8;18 374 7467 11269 32796)	.											0								G		1,4401	2.1+/-5.4	0,1,2200	63	67	66		510	-1.4	0	2	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MARCO	NM_006770.3		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		170/521	119731958	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.510G>A	2.37:g.119731958G>A			B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	CCDS2124.1																																																																																				0.567	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		A	119731958	G	A	119731958	2	1	39	1	0	0	0	0	0	0	0	1	9311	1074	38	1		1	MARCO	2	119731958	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10		119731958	123467415	10	2801											
LRP2	4036	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	170060758	170060758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacgatccacgcccgtcAgagtgctgcgttcaatcctc	7	10	8	16	4	3	1	3	0	0	1	6	2	5	1	3	0	2	2	3	0	1	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:170060758A>G	ENST00000263816.3	-	42	8024	c.7739T>C	c.(7738-7740)cTg>cCg	p.L2580P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2580					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)"	CACGCCCGTCAGAGTGCTGCG	0.428																																						.											0													135	143	140					2																	170060758		2203	4300	6503	SO:0001583	missense	4036				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.7739T>C	2.37:g.170060758A>G	ENSP00000263816:p.Leu2580Pro		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642492	0.67244	.	.	ENSG00000081479	ENST00000263816	D	0.97598	-4.45	5.78	4.62	0.57501	Six-bladed beta-propeller, TolB-like (1);	0.139853	0.48767	N	0.000164	D	0.98495	0.9498	M	0.91196	3.185	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.98688	1.0695	10	0.72032	D	0.01	.	11.4806	0.50322	0.93:0.0:0.07:0.0	.	2580	P98164	LRP2_HUMAN	P	2580	ENSP00000263816:L2580P	ENSP00000263816:L2580P	L	-	2	0	LRP2	169769004	1.000000	0.71417	0.164000	0.22755	0.683000	0.39861	6.331000	0.72929	1.019000	0.39547	0.533000	0.62120	CTG		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170060758	A	G	170060758	3	3	39	1	0	0	0	0	1	0	0	0	8956	188	7	2	6380	2	LRP2	2	170060758	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	50328800	170060758	73138615	11	2802											
TTN	7273	broad.mit.edu	37	chr2	179497287	179497287	+	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	ttgccacttgtgtgcttatcTtcagcttcaaacatgtattt	8	18	6	9	0	3	0	2	0	1	0	3	0	3	0	1	0	4	3	1	0	3	7			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:179497287T>C	ENST00000591111.1	-	185	38747	c.38523A>G	c.(38521-38523)gaA>gaG	p.E12841E	TTN_ENST00000589042.1_Silent_p.E14482E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.E5542E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.E5609E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E5417E|TTN_ENST00000342992.6_Silent_p.E11914E|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12841	Ig-like 85.				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)			TGTGCTTATCTTCAGCTTCAA	0.343																																						.											0													112	109	110					2																	179497287		1915	4116	6031	SO:0001819	synonymous_variant	7273			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.38523A>G	2.37:g.179497287T>C			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																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179497287	T	C	179497287	2	2	39	1	0	0	0	0	0	0	0	1	16732	1606	56	2		2	TTN	2	179497287	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	9436529	179497287	63702086	12	2803											
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	212578299	212578299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggtttacacattttaaTcccattttcttctacttcca	10	17	3	11	0	2	0	0	0	2	0	4	0	4	0	2	1	2	2	2	1	4	9			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:212578299T>C	ENST00000342788.4	-	8	1268	c.958A>G	c.(958-960)Att>Gtt	p.I320V	ERBB4_ENST00000402597.1_Missense_Mutation_p.I320V|ERBB4_ENST00000436443.1_Missense_Mutation_p.I320V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	320	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I320F(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CACATTTTAATCCCATTTTCT	0.358										TSP Lung(8;0.080)																												.											1	Substitution - Missense(1)	endometrium(1)											135	131	132					2																	212578299		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.958A>G	2.37:g.212578299T>C	ENSP00000342235:p.Ile320Val		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	4.757	0.140806	0.09083	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.27890	1.64;1.64;1.64	5.57	5.57	0.84162	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.092812	0.64402	D	0.000001	T	0.15998	0.0385	N	0.11000	0.08	0.52099	D	0.999942	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001	T	0.08166	-1.0735	10	0.02654	T	1	.	15.7821	0.78269	0.0:0.0:0.0:1.0	.	320;320;179;320;320	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	V	320	ENSP00000342235:I320V;ENSP00000403204:I320V;ENSP00000385565:I320V	ENSP00000342235:I320V	I	-	1	0	ERBB4	212286544	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	6.285000	0.72658	2.129000	0.65627	0.529000	0.55759	ATT		0.358	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		C	212578299	T	C	212578299	3	2	39	1	0	0	0	0	1	0	0	0	5209	1435	50	4	3052	4	ERBB4	2	212578299	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	33081012	212578299	30621074	13	2804											
ALPPL2	251	mdanderson.org	37	chr2	233271799	233271799	+	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	acccggacttctggaaccgcCaggcagccgaggccctgggt	7	5	14	15	3	1	0	0	0	1	0	1	3	1	2	5	5	2	1	5	5	1	1	rs146369944	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:233271799C>G	ENST00000295453.3	+	2	152	c.100C>G	c.(100-102)Cag>Gag	p.Q34E		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	34			Q -> E (in dbSNP:rs1048983).		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)	CTGGAACCGCCAGGCAGCCGA	0.642																																						.											0													63	78	73					2																	233271799		2203	4300	6503	SO:0001583	missense	251			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.100C>G	2.37:g.233271799C>G	ENSP00000295453:p.Gln34Glu		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848184	0.00563	.	.	ENSG00000163286	ENST00000295453	T	0.37411	1.2	2.19	-0.276	0.12902	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.518247	0.21905	N	0.067388	T	0.33585	0.0868	M	0.84846	2.72	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.30119	-0.9989	10	0.36615	T	0.2	.	2.4239	0.04455	0.2975:0.4607:0.1215:0.1203	rs1048983;rs3189046	34	P10696	PPBN_HUMAN	E	34	ENSP00000295453:Q34E	ENSP00000295453:Q34E	Q	+	1	0	ALPPL2	232980043	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-0.050000	0.11904	-0.074000	0.12820	0.205000	0.17691	CAG		0.642	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		G	233271799	C	G	233271799	3	3	39	1	0	0	0	0	1	0	0	0	549	595	21	5	106	5	ALPPL2	2	233271799	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	20693500	233271799	9927574	14	2805											
CAPN10	11132	mdanderson.org	37	chr2	241526428	241526428	+	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	tctgcgacttgtctacgccgCtggcccagttccgcgaggac	5	9	12	15	5	2	0	0	0	2	0	3	3	3	1	3	2	2	2	3	2	1	3	rs138005500	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:241526428C>G	ENST00000391984.2	+	1	296	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V	CAPN10_ENST00000354082.4_Missense_Mutation_p.L34V|CAPN10_ENST00000404753.3_Missense_Mutation_p.L34V|CAPN10_ENST00000391982.2_Missense_Mutation_p.L34V|CAPN10-AS1_ENST00000567819.1_RNA|CAPN10_ENST00000270364.7_Missense_Mutation_p.L34V|CAPN10_ENST00000352879.4_Missense_Mutation_p.L34V	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	34	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-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;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTCTACGCCGCTGGCCCAGTT	0.726													C|||	18	0.00359425	0	0.0014	5008	,	,		11190	0		0.0169	False		,,,				2504	0					.											0								C	VAL/LEU,VAL/LEU	4,4070		0,4,2033	5	5	5		100,100	2.5	1	2	dbSNP_134	5	46,8054		0,46,4004	yes	missense,missense	CAPN10	NM_023083.3,NM_023085.3	32,32	0,50,6037	GG,GC,CC		0.5679,0.0982,0.4107	probably-damaging,probably-damaging	34/673,34/518	241526428	50,12124	2037	4050	6087	SO:0001583	missense	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.100C>G	2.37:g.241526428C>G	ENSP00000375844:p.Leu34Val		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	CCDS42838.1	20	0.009157509157509158	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	17	0.022427440633245383	C	14.30	2.493770	0.44352	9.82E-4	0.005679	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000270364;ENST00000352879;ENST00000354082	T;T;T;T;T;T	0.42513	2.39;2.39;2.39;0.97;0.97;2.39	3.44	2.55	0.30701	Peptidase C2, calpain, catalytic domain (3);	0.273086	0.30704	N	0.009053	T	0.29491	0.0735	L	0.42581	1.335	0.41081	D	0.985527	D;P;D;D;P	0.69078	0.997;0.909;0.987;0.994;0.955	D;P;P;P;P	0.66196	0.942;0.455;0.735;0.904;0.843	T	0.24012	-1.0172	10	0.17369	T	0.5	.	6.6983	0.23211	0.0:0.8657:0.0:0.1343	.	34;34;34;34;34	B7Z6G3;Q9HC96-7;Q9HC96-8;Q9HC96-3;Q9HC96	.;.;.;.;CAN10_HUMAN	V	34	ENSP00000375844:L34V;ENSP00000375842:L34V;ENSP00000384422:L34V;ENSP00000270364:L34V;ENSP00000289381:L34V;ENSP00000270362:L34V	ENSP00000270361:L34V	L	+	1	2	CAPN10	241175101	0.818000	0.29161	1.000000	0.80357	0.952000	0.60782	1.288000	0.33296	0.655000	0.30866	0.655000	0.94253	CTG		0.726	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		G	241526428	C	G	241526428	3	3	39	1	0	0	0	0	1	0	0	0	2623	796	28	5	102	5	CAPN10	2	241526428	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	8254629	241526428	1672945	15	2806											
ZNF385D	79750	bcgsc.ca	37	chr3	21462711	21462711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcctatttggaatttagtAaggagcaaacagcacaggag	15	9	10	7	0	0	0	0	0	0	0	1	3	1	3	1	3	3	3	1	3	5	5			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:21462711A>G	ENST00000281523.2	-	8	1701	c.1183T>C	c.(1183-1185)Tac>Cac	p.Y395H		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	395						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAATTTAGTAAGGAGCAAAC	0.428																																						.											0													32	31	31					3																	21462711		2203	4300	6503	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1183T>C	3.37:g.21462711A>G	ENSP00000281523:p.Tyr395His			Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117711	0.77323	.	.	ENSG00000151789	ENST00000281523	T	0.63913	-0.07	5.95	5.95	0.96441	.	0.060077	0.64402	D	0.000002	T	0.75140	0.3809	L	0.59436	1.845	0.58432	D	0.99999	D	0.76494	0.999	D	0.63597	0.916	T	0.77539	-0.2550	10	0.87932	D	0	-40.5365	16.4044	0.83654	1.0:0.0:0.0:0.0	.	395	Q9H6B1	Z385D_HUMAN	H	395	ENSP00000281523:Y395H	ENSP00000281523:Y395H	Y	-	1	0	ZNF385D	21437715	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.284000	0.95882	2.273000	0.75805	0.455000	0.32223	TAC		0.428	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		G	21462711	A	G	21462711	3	3	39	1	0	0	0	0	1	0	0	0	17875	362	13	4	8	4	ZNF385D	3	21462711	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		21462711	176559719	16	2807											
XYLB	9942	hgsc.bcm.edu;mdanderson.org	37	chr3	38388378	38388378	+	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	ccatggcggagcacgcccctCgccgctgctgcctgggctgg	3	6	15	17	4	0	0	0	0	0	0	1	1	0	1	5	4	3	4	5	4	0	0			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:38388378C>T	ENST00000207870.3	+	1	109	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	XYLB_ENST00000427323.1_Missense_Mutation_p.R7C|XYLB_ENST00000542835.1_5'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	7					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)		GCACGCCCCTCGCCGCTGCTG	0.736																																						.											0													8	10	10					3																	38388378		2105	4150	6255	SO:0001583	missense	9942			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.19C>T	3.37:g.38388378C>T	ENSP00000207870:p.Arg7Cys		B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446699	0.63178	.	.	ENSG00000093217	ENST00000427323;ENST00000207870	T	0.14893	2.47	3.55	1.66	0.24008	.	1.030270	0.07717	N	0.942921	T	0.18087	0.0434	L	0.38175	1.15	0.20873	N	0.999831	D	0.69078	0.997	P	0.49502	0.613	T	0.18618	-1.0331	10	0.59425	D	0.04	.	4.5237	0.11971	0.0:0.641:0.2321:0.1269	.	7	O75191	XYLB_HUMAN	C	7	ENSP00000207870:R7C	ENSP00000207870:R7C	R	+	1	0	XYLB	38363382	0.091000	0.21658	0.003000	0.11579	0.185000	0.23345	1.371000	0.34250	0.450000	0.26774	0.650000	0.86243	CGC		0.736	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		T	38388378	C	T	38388378	3	4	39	1	0	0	0	0	1	0	0	0	17459	884	31	1	21	1	XYLB	3	38388378	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	16925667	38388378	159634052	17	2808											
VPRBP	9730	broad.mit.edu;mdanderson.org	37	chr3	51475088	51475088	+	Intron	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	tgcatgaatatgggaagtagCtgaaatgaacaccaaataca	18	8	9	6	0	0	3	0	3	0	0	0	4	0	4	1	1	4	3	1	1	8	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:51475088C>T	ENST00000335891.5	-	6	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						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)		TGGGAAGTAGCTGAAATGAAC	0.378																																						.											0													55	52	53					3																	51475088		1907	4116	6023	SO:0001627	intron_variant	9730			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.672+666G>A	3.37:g.51475088C>T			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Splice_Site	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.874099	0.91664	.	.	ENSG00000145041	ENST00000504652	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPRBP	51450128	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.270000	0.78493	2.941000	0.99782	0.655000	0.94253	.		0.378	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		T	51475088	C	T	51475088	1	4	39	0	1	0	0	0	0	0	0	0	17182	811	28	4		4	VPRBP	3	51475088	Intron	SNP	C	TCGA-KN-8424-01A-11D-2310-10	13086710	51475088	146547342	18	2809											
ALAS1	211	broad.mit.edu	37	chr3	52233380	52233380	+	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	aagatgatggaagttggggcCaagccagcccctcgggcatt	10	7	14	10	1	0	2	0	1	0	1	1	3	0	3	4	4	2	2	4	4	3	2	rs182395582		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:52233380C>A	ENST00000394965.2	+	3	483	c.123C>A	c.(121-123)gcC>gcA	p.A41A	ALAS1_ENST00000310271.2_Silent_p.A41A|ALAS1_ENST00000469224.1_Silent_p.A41A|ALAS1_ENST00000484952.1_Silent_p.A41A	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	41					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AAGTTGGGGCCAAGCCAGCCC	0.527																																						.											0													59	56	57					3																	52233380		2203	4300	6503	SO:0001819	synonymous_variant	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.123C>A	3.37:g.52233380C>A				Silent	SNP	ENST00000394965.2	37	CCDS2847.1																																																																																				0.527	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			A	52233380	C	A	52233380	2	1	39	1	0	0	0	0	0	0	0	1	484	581	21	5		5	ALAS1	3	52233380	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10	758292	52233380	145789050	19	2810											
FAM194A	131831	broad.mit.edu	37	chr3	150421569	150421569	+	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	tcctcctcctcctccacctcTtcctcctcctcctccacctc	2	13	0	26	0	1	0	0	0	1	0	12	0	11	0	12	0	0	0	12	0	0	1			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:150421569T>C	ENST00000295910.6	-	1	169	c.117A>G	c.(115-117)gaA>gaG	p.E39E	FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA	NM_152394.3	NP_689607.2												p.E39E(1)		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						cctccacctcttcctcctcct	0.627																																						.											1	Substitution - coding silent(1)	prostate(1)											92	78	83					3																	150421569		2203	4298	6501	SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.117A>G	3.37:g.150421569T>C				Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				0.627	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			C	150421569	T	C	150421569	2	2	39	1	0	0	0	0	0	0	0	1	5526	1606	56	2		2	FAM194A	3	150421569	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	98188189	150421569	47600861	20	2811											
EIF4G1	1981	broad.mit.edu	37	chr3	184035256	184035256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagatctcctacccagccTcccagggggcctactacatc	8	7	7	19	0	1	1	0	0	1	1	4	1	2	1	6	2	4	0	6	2	3	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:184035256T>C	ENST00000346169.2	+	5	566	c.295T>C	c.(295-297)Tcc>Ccc	p.S99P	EIF4G1_ENST00000441154.1_5'Flank|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S12P|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S99P|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S106P|EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S59P|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S106P|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S106P|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S99P|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S12P|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S59P|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	99					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)			CTACCCAGCCTCCCAGGGGGC	0.612																																						.											0													48	54	52					3																	184035256		2203	4300	6503	SO:0001583	missense	1981			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.295T>C	3.37:g.184035256T>C	ENSP00000316879:p.Ser99Pro		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542841	0.27563	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37411	2.09;2.09;1.2;2.09;2.09;2.09;1.2;1.2;2.09;1.2;1.2;2.09;2.09;2.09;1.2;2.09	5.08	5.08	0.68730	.	0.514295	0.20823	N	0.085028	T	0.19087	0.0458	N	0.11673	0.155	0.50632	D	0.99988	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.09377	0.004;0.004;0.004	T	0.06481	-1.0824	10	0.06099	T	0.92	-13.2414	15.0055	0.71510	0.0:0.0:0.0:1.0	.	106;99;99	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	P	99;59;12;99;106;106;59;99;106;66;12;99;99;106;59;59	ENSP00000316879:S99P;ENSP00000391935:S59P;ENSP00000376320:S12P;ENSP00000391412:S99P;ENSP00000413159:S106P;ENSP00000371767:S106P;ENSP00000415842:S59P;ENSP00000407240:S99P;ENSP00000338020:S106P;ENSP00000411214:S66P;ENSP00000407682:S12P;ENSP00000343450:S99P;ENSP00000323737:S99P;ENSP00000416255:S106P;ENSP00000415943:S59P;ENSP00000395974:S59P	ENSP00000323737:S99P	S	+	1	0	EIF4G1	185517950	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.037000	0.64170	2.133000	0.65898	0.533000	0.62120	TCC		0.612	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		C	184035256	T	C	184035256	3	2	39	1	0	0	0	0	1	0	0	0	5036	1551	54	2	305	2	EIF4G1	3	184035256	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	33613687	184035256	13987174	21	2812											
SHROOM3	57619	mdanderson.org	37	chr4	77662125	77662125	+	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	agcatcaaggacgcacagtcCcgtgtcttgggggccacctc	8	7	12	14	2	2	0	1	0	1	0	4	1	3	1	3	3	1	2	3	3	1	1	rs36036308	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr4:77662125C>T	ENST00000296043.6	+	5	3752	c.2799C>T	c.(2797-2799)tcC>tcT	p.S933S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	933	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				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)			ACGCACAGTCCCGTGTCTTGG	0.721													C|||	187	0.0373403	0.031	0.0375	5008	,	,		11231	0.004		0.0895	False		,,,				2504	0.0266					.											0								C		133,4161		2,129,2016	9	10	10		2799	2.3	1	4	dbSNP_126	10	719,7635		31,657,3489	no	coding-synonymous	SHROOM3	NM_020859.3		33,786,5505	TT,TC,CC		8.6067,3.0973,6.7362		933/1997	77662125	852,11796	2147	4177	6324	SO:0001819	synonymous_variant	57619			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.2799C>T	4.37:g.77662125C>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																				0.721	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77662125	C	T	77662125	2	4	39	1	0	0	0	0	0	0	0	1	14295	610	22	3		3	SHROOM3	4	77662125	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10		77662125	113492151	22	2813											
GZMK	3003	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	54329718	54329718	+	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	accaagaaataccagacttgGatcaaaagcaaccttgtccc	16	7	6	12	0	1	2	1	0	0	2	2	3	2	3	4	1	3	1	4	1	6	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:54329718G>A	ENST00000231009.2	+	5	829	c.759G>A	c.(757-759)tgG>tgA	p.W253*	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	253	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			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)				ACCAGACTTGGATCAAAAGCA	0.408																																						.											0													105	98	100					5																	54329718		2203	4300	6503	SO:0001587	stop_gained	3003			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.759G>A	5.37:g.54329718G>A	ENSP00000231009:p.Trp253*		B2R563	Nonsense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378106	0.82682	.	.	ENSG00000113088	ENST00000231009	.	.	.	4.84	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1296	0.53936	0.0:0.0:0.8272:0.1728	.	.	.	.	X	253	.	ENSP00000231009:W253X	W	+	3	0	GZMK	54365475	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	4.997000	0.63921	1.302000	0.44855	0.655000	0.94253	TGG		0.408	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		A	54329718	G	A	54329718	4	1	39	1	0	0	0	0	0	1	0	0	6918	1183	41	3	777	3	GZMK	5	54329718	Nonsense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10		54329718	126585542	23	2814											
PCDHA8	56140	mdanderson.org	37	chr5	140222641	140222641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggtggcgcagcgagcAagctggtgccgcggtctgtg	5	7	18	11	4	1	0	0	0	1	0	1	1	1	0	1	4	4	4	1	4	1	0	rs6580012	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:140222641A>G	ENST00000531613.1	+	1	1735	c.1735A>G	c.(1735-1737)Aag>Gag	p.K579E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.K579E|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	579			K -> E (in dbSNP:rs6580012).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCGAGCAAGCTGGTGCC	0.677													.|||	2882	0.575479	0.7345	0.562	5008	,	,		14758	0.5268		0.4911	False		,,,				2504	0.5072					.											0								G	,,,,,,,GLU/LYS,,,GLU/LYS	3133,1257		1169,795,231	52	57	55		,,,,,,,1735,,,1735	0.4	0	5	dbSNP_116	55	4023,4497		1149,1725,1386	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,56,,,56	2318,2520,1617	GG,GA,AA		47.2183,28.6333,44.5701	,,,,,,,,,,	,,,,,,,579/951,,,579/815	140222641	7156,5754	2195	4260	6455	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1735A>G	5.37:g.140222641A>G	ENSP00000434655:p.Lys579Glu		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	1207	0.5526556776556777	350	0.7113821138211383	184	0.5082872928176796	302	0.527972027972028	371	0.4894459102902375	G	1.084	-0.665977	0.03428	0.713667	0.472183	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.19806	2.12;2.12	3.49	0.381	0.16228	Cadherin-like (1);	0.000000	0.36932	N	0.002335	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34750	-0.9816	9	0.02654	T	1	.	6.1288	0.20194	0.2432:0.4246:0.3322:0.0	rs6580012;rs17844319	579;579	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	E	579	ENSP00000434655:K579E;ENSP00000367363:K579E	ENSP00000367363:K579E	K	+	1	0	PCDHA8	140202825	0.192000	0.23301	0.000000	0.03702	0.029000	0.11900	1.550000	0.36223	-0.581000	0.05937	-0.665000	0.03846	AAG		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		G	140222641	A	G	140222641	3	3	39	1	0	0	0	0	1	0	0	0	11530	131	5	4	1737	4	PCDHA8	5	140222641	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	85892923	140222641	40692619	24	2815											
PCDHA10	56139	bcgsc.ca	37	chr5	140236871	140236871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggacagcgctctggAccgcgagagggtgtcggcct	5	7	18	11	4	1	1	0	0	1	1	2	4	1	3	2	5	2	2	2	5	0	0			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:140236871A>G	ENST00000307360.5	+	1	1238	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D413G|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCTCTGGACCGCGAGAGG	0.647																																						.											0													139	126	130					5																	140236871		2197	4274	6471	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1238A>G	5.37:g.140236871A>G	ENSP00000304234:p.Asp413Gly		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708210	0.48412	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.65178	-0.14;-0.14	3.96	3.96	0.45880	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87144	0.6104	H	0.99117	4.435	0.44234	D	0.997076	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.993;0.975;1.0	D	0.91942	0.5564	9	0.87932	D	0	.	13.3507	0.60601	1.0:0.0:0.0:0.0	.	413;413;413	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	G	413	ENSP00000421030:D413G;ENSP00000304234:D413G	ENSP00000304234:D413G	D	+	2	0	PCDHA10	140217055	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	8.817000	0.91985	1.790000	0.52503	0.454000	0.30748	GAC		0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		G	140236871	A	G	140236871	3	3	39	1	0	0	0	0	1	0	0	0	11520	275	10	2	1240	2	PCDHA10	5	140236871	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	14230	140236871	40678389	25	2816											
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-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	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																																						.											0													37	33	34					5																	172750382		2203	4300	6503	SO:0001583	missense	8614			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			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	39	1	0	0	0	0	1	0	0	0	15275	1319	46	5	570	5	STC2	5	172750382	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	32513511	172750382	8164878	26	2817											
DSP	1832	ucsc.edu	37	chr6	7572208	7572208	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagattcgcaggcagatAgagcactgcgagggcaggat	13	5	15	8	2	0	4	0	0	0	4	1	6	0	5	0	3	2	4	0	3	2	2	rs151049942	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:7572208A>G	ENST00000379802.3	+	15	2378	c.2037A>G	c.(2035-2037)atA>atG	p.I679M	DSP_ENST00000418664.2_Missense_Mutation_p.I679M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	679	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGCAGATAGAGCACTGCG	0.448													A|||	2	0.000399361	0.0015	0	5008	,	,		18185	0		0	False		,,,				2504	0					.											0								A	MET/ILE,MET/ILE	3,4403	6.2+/-15.9	0,3,2200	87	82	84		2037,2037	0.6	1	6	dbSNP_134	84	0,8600		0,0,4300	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	10,10	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign,benign	679/2273,679/2872	7572208	3,13003	2203	4300	6503	SO:0001583	missense	1832			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.2037A>G	6.37:g.7572208A>G	ENSP00000369129:p.Ile679Met		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784966	0.31593	6.81E-4	0.0	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74632	-0.52;-0.86	5.58	0.632	0.17705	.	0.298544	0.33712	N	0.004626	T	0.32071	0.0817	N	0.14661	0.345	0.30376	N	0.782447	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10941	-1.0608	10	0.52906	T	0.07	.	5.9683	0.19338	0.3601:0.0:0.5018:0.1381	.	726;679	Q4LE79;P15924	.;DESP_HUMAN	M	679;679;484	ENSP00000369129:I679M;ENSP00000396591:I679M	ENSP00000369129:I679M	I	+	3	3	DSP	7517207	0.987000	0.35691	0.998000	0.56505	0.962000	0.63368	-0.028000	0.12350	0.042000	0.15717	-0.472000	0.04984	ATA		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		G	7572208	A	G	7572208	3	3	39	1	0	0	0	0	1	0	0	0	4781	410	15	2	2095	2	DSP	6	7572208	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		7572208	163542859	27	2818											
MDC1	9656	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	30672144	30672144	+	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	aactggctcaggggtcttgaCagaggacctatttgtcctgc	8	11	12	10	0	2	2	1	1	1	1	3	3	3	3	2	4	2	1	2	4	2	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:30672144C>A	ENST00000376406.3	-	10	5463	c.4816G>T	c.(4816-4818)Gtc>Ttc	p.V1606F	MDC1_ENST00000376405.2_Missense_Mutation_p.V1342F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1606	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGGTCTTGACAGAGGACCTA	0.602								Other conserved DNA damage response genes																														.											0													118	130	126					6																	30672144		2203	4300	6503	SO:0001583	missense	9656			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.4816G>T	6.37:g.30672144C>A	ENSP00000365588:p.Val1606Phe		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490343	0.44249	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.11821	2.74;2.74	3.4	1.48	0.22813	.	1.326470	0.05791	N	0.610382	T	0.16085	0.0387	M	0.64997	1.995	0.09310	N	1	D;D	0.71674	0.998;0.983	D;P	0.70487	0.969;0.68	T	0.09271	-1.0682	10	0.56958	D	0.05	0.0372	4.9637	0.14080	0.0:0.6897:0.0:0.3103	.	1342;1606	Q14676-2;Q14676	.;MDC1_HUMAN	F	1606;1342;1319;1172	ENSP00000365588:V1606F;ENSP00000365587:V1342F	ENSP00000365587:V1342F	V	-	1	0	MDC1	30780123	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.379000	0.07437	0.391000	0.25143	0.449000	0.29647	GTC		0.602	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30672144	C	A	30672144	3	1	39	1	0	0	0	0	1	0	0	0	9403	478	17	5	1477	5	MDC1	6	30672144	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	23099936	30672144	140442923	28	2819											
HLA-C	3107	mdanderson.org	37	chr6	31239049	31239049	+	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	taatccttgccgtcgtaggcGgactggtcatacccgcggag	7	9	13	12	5	1	0	1	0	0	0	3	2	2	2	3	4	2	1	3	4	3	4	rs1065406	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:31239049G>T	ENST00000376228.5	-	3	434	c.420C>A	c.(418-420)tcC>tcA	p.S140S	HLA-C_ENST00000383329.3_Silent_p.S140S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	140	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)			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						CGTCGTAGGCGGACTGGTCAT	0.706													g|||	270	0.0539137	0.0439	0.049	5008	,	,		13032	0.0377		0.0398	False		,,,				2504	0.1022					.											0													34	26	29					6																	31239049		2177	4252	6429	SO:0001819	synonymous_variant	3107			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.420C>A	6.37:g.31239049G>T			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	150	0.06868131868131869	32	0.06504065040650407	18	0.049723756906077346	57	0.09965034965034965	43	0.05672823218997362	.	5.915	0.352896	0.11182	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.59	-3.28	0.05033	.	.	.	.	.	T	0.07188	0.0182	.	.	.	0.24072	N	0.995975	.	.	.	.	.	.	T	0.34800	-0.9814	4	.	.	.	.	3.1816	0.06587	0.3131:0.0:0.2669:0.42	rs1065406;rs2308578;rs3176001;rs3180085;rs16868251;rs17840081	.	.	.	S	140	.	.	R	-	1	0	HLA-C	31347028	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.910000	0.00699	-0.884000	0.03976	-1.236000	0.01555	CGC		0.706	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239049	G	T	31239049	2	4	39	1	0	0	0	0	0	0	0	1	7197	1103	39	5		5	HLA-C	6	31239049	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	566905	31239049	139876018	29	2820			1	27		2	2	12	N	G_A	3.197961e-05
HLA-C	3107	mdanderson.org	37	chr6	31239060	31239060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgtaggcggactggtcatAcccgcggaggaggcgcccgt	6	6	17	12	6	1	0	1	0	0	0	2	3	1	3	2	6	1	1	2	6	2	2	rs2308574	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:31239060A>G	ENST00000376228.5	-	3	423	c.409T>C	c.(409-411)Tat>Cat	p.Y137H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Y137H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	137	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)			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						GACTGGTCATACCCGCGGAGG	0.706													a|||	737	0.147165	0.2042	0.1124	5008	,	,		12690	0.119		0.0984	False		,,,				2504	0.1738					.											0													32	25	27					6																	31239060		2170	4230	6400	SO:0001583	missense	3107			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.409T>C	6.37:g.31239060A>G	ENSP00000365402:p.Tyr137His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	449|449	0.20558608058608058|0.20558608058608058	107|107	0.21747967479674796|0.21747967479674796	75|75	0.20718232044198895|0.20718232044198895	137|137	0.2395104895104895|0.2395104895104895	130|130	0.17150395778364116|0.17150395778364116	.|.	8.863|8.863	0.947475|0.947475	0.18356|0.18356	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.01051	.|5.4;5.4	2.81|2.81	1.59|1.59	0.23543|0.23543	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.528899	.|0.13774	.|U	.|0.363708	T|T	0.01287|0.01287	0.0042|0.0042	M|M	0.92923|0.92923	3.36|3.36	0.49299|0.49299	P|P	2.2599999999994846E-4|2.2599999999994846E-4	.|B;B;B;B	.|0.16396	.|0.017;0.002;0.002;0.004	.|B;B;B;B	.|0.31101	.|0.124;0.034;0.055;0.099	T|T	0.05683|0.05683	-1.0870|-1.0870	5|9	0.87932|0.56958	D|D	0|0.05	.|.	6.6067|6.6067	0.22729|0.22729	0.7862:0.0:0.0:0.2138|0.7862:0.0:0.0:0.2138	rs2308574;rs12721948;rs17839983|rs2308574;rs12721948;rs17839983	.|137;137;137;137	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	A|H	136|137;137;137;174	.|ENSP00000365402:Y137H;ENSP00000372819:Y137H	ENSP00000365412:V131A|ENSP00000365402:Y137H	V|Y	-|-	2|1	0|0	HLA-C|HLA-C	31347039|31347039	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.006000|0.006000	0.05464|0.05464	0.709000|0.709000	0.25734|0.25734	0.458000|0.458000	0.26988|0.26988	0.254000|0.254000	0.18369|0.18369	GTA|TAT		0.706	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31239060	A	G	31239060	3	3	39	1	0	0	0	0	1	0	0	0	7197	391	14	2	715	2	HLA-C	6	31239060	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	11	31239060	139876007	30	2821			1	27		2	2	12	N	G_A	3.197961e-05
HSP90AB1	3326	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	44218791	44218791	+	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	ttggtttctttcagcactttTctgtagaaggtcagttggaa	8	17	10	6	0	4	1	2	0	2	1	4	2	4	2	0	3	1	4	0	3	3	7			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:44218791T>G	ENST00000371554.1	+	7	1178	c.964T>G	c.(964-966)Tct>Gct	p.S322A	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S322A|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S322A			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	322					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)			TCAGCACTTTTCTGTAGAAGG	0.383																																						.											0													114	113	113					6																	44218791		2203	4300	6503	SO:0001583	missense	3326			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.964T>G	6.37:g.44218791T>G	ENSP00000360609:p.Ser322Ala		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641533	0.67244	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.12569	2.67;2.67;2.67	4.76	4.76	0.60689	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000004	T	0.23054	0.0557	H	0.94385	3.53	0.80722	D	1	B;B;B	0.24882	0.002;0.113;0.001	B;B;B	0.36186	0.014;0.219;0.035	T	0.15093	-1.0449	10	0.66056	D	0.02	-10.7397	14.2648	0.66110	0.0:0.0:0.0:1.0	.	284;312;322	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	A	322	ENSP00000360709:S322A;ENSP00000325875:S322A;ENSP00000360609:S322A	ENSP00000325875:S322A	S	+	1	0	HSP90AB1	44326769	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.017000	0.88712	1.794000	0.52575	0.397000	0.26171	TCT		0.383	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		G	44218791	T	G	44218791	3	3	39	1	0	0	0	0	1	0	0	0	7402	1783	62	5	986	5	HSP90AB1	6	44218791	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	12979731	44218791	126896276	31	2822											
MAP3K4	4216	bcgsc.ca	37	chr6	161527702	161527702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgcacgttggcttgaggaAggtgaccttcaaatggcaaa	12	10	12	7	1	1	2	1	2	0	0	1	3	1	3	1	4	1	4	1	4	4	4			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:161527702A>G	ENST00000392142.4	+	20	4161	c.4013A>G	c.(4012-4014)aAg>aGg	p.K1338R	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1334R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1284R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1288R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1338					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)		GGCTTGAGGAAGGTGACCTTC	0.383																																						.											0													153	142	146					6																	161527702		2203	4300	6503	SO:0001583	missense	4216			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.4013A>G	6.37:g.161527702A>G	ENSP00000375986:p.Lys1338Arg		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.956002	0.53293	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72167	-0.58;-0.62;-0.63;-0.58	4.61	4.61	0.57282	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	N	0.24115	0.695	0.58432	D	0.999999	B;B;D;D	0.56746	0.342;0.014;0.971;0.977	P;B;P;P	0.61477	0.565;0.026;0.889;0.844	T	0.58691	-0.7592	10	0.16420	T	0.52	-31.0922	14.0342	0.64636	1.0:0.0:0.0:0.0	.	1334;274;1288;1338	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	R	1288;1338;1288;1334;1284	ENSP00000355886:K1288R;ENSP00000375986:K1338R;ENSP00000355887:K1334R;ENSP00000297332:K1284R	ENSP00000297332:K1284R	K	+	2	0	MAP3K4	161447692	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.962000	0.93254	1.711000	0.51337	0.477000	0.44152	AAG		0.383	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			G	161527702	A	G	161527702	3	3	39	1	0	0	0	0	1	0	0	0	9252	72	3	2	4091	2	MAP3K4	6	161527702	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	117308911	161527702	9587365	32	2823											
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu	37	chr7	21904162	21904165	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															ctactctcaagattttgttgAgaaagaaagagatagaccct																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	AGAA	AGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:21904162_21904165delAGAA	ENST00000409508.3	+	70	11414_11417	c.11383_11386delAGAA	c.(11383-11388)agaaagfs	p.RK3795fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.RK3802fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3802					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						GATTTTGTTGAGAAAGAAAGAGAT	0.387									Kartagener syndrome																													.											0																																										SO:0001589	frameshift_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	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.11383_11386delAGAA	7.37:g.21904166_21904169delAGAA	ENSP00000475939:p.Arg3795fs		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37																																																																																					0.387	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		-	21904165	AGAA	-	21904162	7	5	39	1	0	1	0	1	0	0	0	0	4599	296	11	0	11683	0	DNAH11	7	21904162	Frame_Shift_Del	DEL	AGAA	TCGA-KN-8424-01A-11D-2310-10		21904162	137234501	33	2824	80	2									
DNAH11	8701	bcgsc.ca	37	chr7	21904163	21904166	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															tactctcaagattttgttgaGaaagaaagagatagaccctc																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	AGAA	AGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:21904163_21904166delAGAA	ENST00000409508.3	+	70	11415_11418	c.11384_11387delAGAA	c.(11383-11388)aagaagfs	p.KK3795fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.KK3802fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3802					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						ATTTTGTTGAGAAAGAAAGAGATA	0.382									Kartagener syndrome																													.											0																																										SO:0001589	frameshift_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	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.11384_11387delAGAA	7.37:g.21904163_21904166delAGAA	ENSP00000475939:p.Lys3795fs		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37																																																																																					0.382	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		-	21904166	AGAA	-	21904163	7	5	39	1	0	1	0	1	0	0	0	0	4599	942	33	0	11684	0	DNAH11	7	21904163	Frame_Shift_Del	DEL	AGAA	TCGA-KN-8424-01A-11D-2310-10	1	21904163	137234500	34	2825	80	2									
NPSR1	387129	broad.mit.edu	37	chr7	34724247	34724247	+	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	cttttttccacatggaggagAaagaagaagtcaagaatgac	16	9	10	6	0	1	5	1	1	0	4	2	7	2	6	1	2	0	0	1	2	5	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:34724247A>G	ENST00000360581.1	+	2	359	c.231A>G	c.(229-231)agA>agG	p.R77R	NPSR1_ENST00000381542.1_Silent_p.R77R|NPSR1_ENST00000381539.3_Silent_p.R77R|NPSR1_ENST00000381553.3_Silent_p.R77R|NPSR1_ENST00000531252.1_Silent_p.R77R|NPSR1_ENST00000359791.1_Silent_p.R77R|NPSR1_ENST00000465305.1_Silent_p.R77R|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	77						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CATGGAGGAGAAAGAAGAAGT	0.428																																						.											0													157	150	152					7																	34724247		2203	4300	6503	SO:0001819	synonymous_variant	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.231A>G	7.37:g.34724247A>G			A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	CCDS5444.1																																																																																				0.428	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		G	34724247	A	G	34724247	2	3	39	1	0	0	0	0	0	0	0	1	10600	243	9	4		4	NPSR1	7	34724247	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	12820084	34724247	124414416	35	2826											
TNS3	64759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	47451335	47451335	+	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	gggcactcaccatgacatctCccttcagaagctgggccggc	8	7	11	15	1	3	2	2	1	1	1	4	2	3	2	3	3	1	2	3	3	1	1			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:47451335C>G	ENST00000398879.1	-	13	1079	c.713G>C	c.(712-714)gGa>gCa	p.G238A	TNS3_ENST00000442536.2_Missense_Mutation_p.G238A|TNS3_ENST00000311160.9_Missense_Mutation_p.G238A|TNS3_ENST00000355730.3_Missense_Mutation_p.G238A|TNS3_ENST00000458317.2_Missense_Mutation_p.G238A			Q68CZ2	TENS3_HUMAN	tensin 3	238	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATGACATCTCCCTTCAGAAG	0.512																																						.											0													56	63	61					7																	47451335		2072	4190	6262	SO:0001583	missense	64759			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.713G>C	7.37:g.47451335C>G	ENSP00000381854:p.Gly238Ala		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465360	0.84425	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	D;D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	5.17	5.17	0.71159	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.112469	0.64402	D	0.000011	D	0.98438	0.9480	M	0.92833	3.35	0.51233	D	0.999911	D;P	0.89917	1.0;0.775	D;P	0.91635	0.999;0.649	D	0.99376	1.0921	10	0.87932	D	0	-28.4514	14.219	0.65812	0.0:1.0:0.0:0.0	.	238;238	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	A	238;348;238;238;341;327;238;238	ENSP00000312143:G238A;ENSP00000381854:G238A;ENSP00000347968:G238A;ENSP00000414358:G341A;ENSP00000396914:G327A;ENSP00000389285:G238A;ENSP00000388318:G238A	ENSP00000312143:G238A	G	-	2	0	TNS3	47417860	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.176000	0.71955	2.416000	0.81992	0.555000	0.69702	GGA		0.512	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		G	47451335	C	G	47451335	3	3	39	1	0	0	0	0	1	0	0	0	16341	855	30	5	3700	5	TNS3	7	47451335	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	12727088	47451335	111687328	36	2827											
FGL2	10875	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr7	76828559	76828559	+	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	catttgccatccaaactattGacaacaaatgttagatttgc	14	13	5	9	0	0	2	0	1	0	1	1	2	1	2	2	0	4	1	2	0	5	5			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:76828559G>A	ENST00000248598.5	-	1	584	c.552C>T	c.(550-552)gtC>gtT	p.V184V	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	184						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						CCAAACTATTGACAACAAATG	0.343																																						.											0													131	124	126					7																	76828559		2203	4300	6503	SO:0001819	synonymous_variant	10875			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.552C>T	7.37:g.76828559G>A				Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.343	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		A	76828559	G	A	76828559	2	1	39	1	0	0	0	0	0	0	0	1	5873	1277	45	4		4	FGL2	7	76828559	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	29377224	76828559	82310104	37	2828											
KLHDC10	23008	hgsc.bcm.edu	37	chr7	129710524	129710524	+	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	ggacaggaaccgccggagggGaggaggcgccgccggcgctg	7	1	21	12	6	0	0	0	0	0	0	0	5	0	5	4	8	1	1	4	8	1	0	rs1062154	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:129710524G>C	ENST00000335420.5	+	1	175	c.41G>C	c.(40-42)gGa>gCa	p.G14A		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	14	Gly-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						cgccggaggggaggaggcgcc	0.756													G|||	31	0.0061901	0.0015	0.0058	5008	,	,		6862	0		0.0209	False		,,,				2504	0.0041					.											0								G	ALA/GLY	8,2858		0,8,1425	2	3	3		41	4.5	1	7	dbSNP_86	3	119,6077		0,119,2979	no	missense	KLHDC10	NM_014997.3	60	0,127,4404	CC,CG,GG		1.9206,0.2791,1.4015	probably-damaging	14/443	129710524	127,8935	1433	3098	4531	SO:0001583	missense	23008				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.41G>C	7.37:g.129710524G>C	ENSP00000334140:p.Gly14Ala		Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	CCDS5815.1	16	0.007326007326007326	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	14	0.018469656992084433	G	25.9	4.681437	0.88542	0.002791	0.019206	ENSG00000128607	ENST00000335420;ENST00000463413	T;T	0.36340	2.37;1.26	5.36	4.47	0.54385	.	0.279987	0.25380	N	0.031096	T	0.18800	0.0451	N	0.08118	0	0.29092	N	0.88205	D	0.76494	0.999	D	0.73708	0.981	T	0.08785	-1.0705	10	0.09338	T	0.73	-11.428	11.5366	0.50641	0.0:0.0:0.8214:0.1786	rs1062154;rs3173906	14	Q6PID8	KLD10_HUMAN	A	14	ENSP00000334140:G14A;ENSP00000420083:G14A	ENSP00000334140:G14A	G	+	2	0	KLHDC10	129497760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.758000	0.47565	1.243000	0.43853	0.591000	0.81541	GGA		0.756	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			C	129710524	G	C	129710524	3	2	39	1	0	0	0	0	1	0	0	0	8355	1174	41	5	43	5	KLHDC10	7	129710524	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	52881965	129710524	29428139	38	2829											
OR2A5	393046	broad.mit.edu	37	chr7	143748124	143748124	+	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	gtgttcatcctggtggggccGctctgcctggtgctggtctc	1	13	15	12	1	3	0	1	0	2	0	5	0	4	0	3	5	2	3	3	5	0	1	rs372854651		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:143748124G>A	ENST00000408906.2	+	1	664	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	210						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(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTGGGGCCGCTCTGCCTGG	0.597																																						.											0								G		0,4028		0,0,2014	126	129	128		630	-2.7	1	7		128	3,8343		0,3,4170	no	coding-synonymous	OR2A5	NM_012365.1		0,3,6184	AA,AG,GG		0.0359,0.0,0.0242		210/312	143748124	3,12371	2014	4173	6187	SO:0001819	synonymous_variant	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.630G>A	7.37:g.143748124G>A			B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	CCDS43668.1																																																																																				0.597	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			A	143748124	G	A	143748124	2	1	39	1	0	0	0	0	0	0	0	1	10981	1074	38	1		1	OR2A5	7	143748124	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	14037600	143748124	15390539	39	2830											
MLL3	58508	hgsc.bcm.edu;mdanderson.org	37	chr7	152132844	152132845	+	Missense_Mutation	DNP	CC	CC	TT																															tggcggcggctgcggctgctCcacgctcttgtcctcctccg																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:152132844_152132845CC>TT	ENST00000262189.6	-	1	245_246	c.27_28GG>AA	c.(25-30)gtGGag>gtAAag	p.E10K	FABP5P3_ENST00000477993.1_RNA|KMT2C_ENST00000355193.2_Missense_Mutation_p.E10K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	10					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)										TGCGGCTGCTCCACGCTCTTGT	0.733																																						.											0																																										SO:0001583	missense	58508			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.27_28delinsTT	7.37:g.152132844_152132845delinsTT	ENSP00000262189:p.Glu10Lys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	DNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.733	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			TT	152132845	CC	TT	152132844	3	4	39	1	0	0	0	0	1	0	0	0	9622	864	30	3	14943	3	MLL3	7	152132844	Missense_Mutation	DNP	CC	TCGA-KN-8424-01A-11D-2310-10	8384720	152132844	7005819	40	2831											
RNF32	140545	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	156437191	156437191	+	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	tgacttttttcctactttttAgggtcactcatctaagaaag	10	17	6	8	0	3	2	2	1	1	1	4	2	4	2	1	1	1	0	1	1	4	8			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:156437191A>G	ENST00000405335.1	+	4	424		c.e4-1		RNF32_ENST00000311822.8_Splice_Site|RNF32_ENST00000392741.2_Splice_Site|RNF32_ENST00000317955.5_Splice_Site|RNF32_ENST00000392740.1_Splice_Site|RNF32_ENST00000432459.2_Splice_Site|RNF32_ENST00000392743.2_Splice_Site|RNF32_ENST00000343665.4_Splice_Site			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCTACTTTTTAGGGTCACTCA	0.343																																						.											0													50	54	53					7																	156437191		2203	4299	6502	SO:0001630	splice_region_variant	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.16-1A>G	7.37:g.156437191A>G			Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Splice_Site	SNP	ENST00000405335.1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594126	0.28445	.	.	ENSG00000105982	ENST00000404282;ENST00000439609;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	.	.	.	5.08	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0183	0.53329	0.8559:0.1441:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF32	156129952	1.000000	0.71417	0.994000	0.49952	0.553000	0.35397	3.274000	0.51631	1.910000	0.55303	0.482000	0.46254	.		0.343	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936	Intron	G	156437191	A	G	156437191	5	3	39	1	0	0	0	0	0	0	1	0	13488	434	15	2	20	2	RNF32	7	156437191	Splice_Site	SNP	A	TCGA-KN-8424-01A-11D-2310-10	4304347	156437191	2701472	41	2832											
TG	7038	hgsc.bcm.edu	37	chr8	134128949	134128949	+	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	taccatgctcctgaaaactaCggccatggcaggtaagacgc	12	7	10	12	2	0	2	0	1	0	1	1	2	1	2	3	3	4	3	3	3	5	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:134128949C>T	ENST00000220616.4	+	45	7891	c.7851C>T	c.(7849-7851)taC>taT	p.Y2617Y	TG_ENST00000377869.1_Silent_p.Y2560Y|TG_ENST00000519543.1_Silent_p.Y750Y|TG_ENST00000542445.1_Silent_p.Y987Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2617					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAAAACTACGGCCATGGCA	0.517																																						.											0													94	76	82					8																	134128949		2203	4300	6503	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7851C>T	8.37:g.134128949C>T			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.627610	0.00813	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.53	-8.73	0.00841	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.44832	-0.9302	4	.	.	.	.	18.2325	0.89938	0.0:0.8626:0.0:0.1374	.	.	.	.	W	1073	.	.	R	+	1	2	TG	134198131	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.654000	0.01984	-1.842000	0.01181	-2.404000	0.00223	CGG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134128949	C	T	134128949	2	4	39	1	0	0	0	0	0	0	0	1	15810	547	19	1		1	TG	8	134128949	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10		134128949	12235073	42	2833											
PSCA	8000	mdanderson.org	37	chr8	143763547	143763547	+	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	ctctggggacccggccagctCtaggctctggggggccccgc	3	6	16	16	2	3	0	0	0	3	0	3	1	3	1	4	7	1	2	4	7	1	1	rs1045531	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:143763547C>A	ENST00000301258.4	+	3	425	c.342C>A	c.(340-342)ctC>ctA	p.L114L		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	123						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)					CCGGCCAGCTCTAGGCTCTGG	0.706													A|||	2013	0.401957	0.354	0.5072	5008	,	,		13713	0.3423		0.4473	False		,,,				2504	0.407					.											0								A		1450,2534		293,864,835	13	15	14		342	1.4	0.3	8	dbSNP_86	14	3740,4612		857,2026,1293	no	coding-synonymous	PSCA	NM_005672.4		1150,2890,2128	AA,AC,CC		44.7797,36.3956,42.072		114/115	143763547	5190,7146	1992	4176	6168	SO:0001819	synonymous_variant	8000			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.342C>A	8.37:g.143763547C>A			Q6UW92	Silent	SNP	ENST00000301258.4	37	CCDS47925.2																																																																																				0.706	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		A	143763547	C	A	143763547	2	1	39	1	0	0	0	0	0	0	0	1	12645	900	32	5		5	PSCA	8	143763547	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10	9634598	143763547	2600475	43	2834											
SCRIB	23513	hgsc.bcm.edu	37	chr8	144874055	144874055	+	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	cggctcctcaccaggcgtccCggggaggtgctggtctgggg	3	7	18	13	3	2	0	1	0	1	0	4	1	4	1	3	8	1	2	3	8	0	0			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:144874055C>T	ENST00000320476.3	-	34	4692	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000356994.2_Silent_p.P1562P|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P1481P|RP11-429J17.8_ENST00000534089.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1562					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)			CCAGGCGTCCCGGGGAGGTGC	0.726																																					Pancreas(51;966 1133 10533 14576 29674)	.											0													6	8	7					8																	144874055		2073	4137	6210	SO:0001819	synonymous_variant	23513			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.4686G>A	8.37:g.144874055C>T			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018831	0.19355	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.46	-8.93	0.00771	.	.	.	.	.	T	0.44850	0.1313	.	.	.	0.51482	D	0.999928	.	.	.	.	.	.	T	0.51196	-0.8736	4	.	.	.	.	6.53	0.22322	0.1245:0.4597:0.3309:0.0849	.	.	.	.	R	582	.	.	G	-	1	0	SCRIB	144946043	0.000000	0.05858	0.727000	0.30756	0.989000	0.77384	-3.492000	0.00453	-2.365000	0.00606	-0.408000	0.06270	GGG		0.726	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		T	144874055	C	T	144874055	2	4	39	1	0	0	0	0	0	0	0	1	13937	639	23	1		1	SCRIB	8	144874055	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10	1110508	144874055	1489967	44	2835											
ADCK5	203054	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr8	145617189	145617189	+	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	ctgagcagatattttacaccGgcttcatccactcggaccca	10	10	7	14	2	1	2	1	1	0	1	3	3	2	3	3	2	2	2	3	2	2	4			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:145617189G>A	ENST00000308860.6	+	10	1107	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	355	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)			ATTTTACACCGGCTTCATCCA	0.592																																						.											0													78	79	79					8																	145617189		2202	4300	6502	SO:0001583	missense	203054			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.1063G>A	8.37:g.145617189G>A	ENSP00000310547:p.Gly355Ser		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140720	0.77775	.	.	ENSG00000173137	ENST00000308860	T	0.28454	1.61	5.54	5.54	0.83059	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71293	-0.4636	10	0.72032	D	0.01	-44.657	16.9685	0.86293	0.0:0.0:1.0:0.0	.	355	Q3MIX3	ADCK5_HUMAN	S	355	ENSP00000310547:G355S	ENSP00000310547:G355S	G	+	1	0	ADCK5	145587997	1.000000	0.71417	0.949000	0.38748	0.225000	0.24961	5.708000	0.68377	2.617000	0.88574	0.555000	0.69702	GGC		0.592	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		A	145617189	G	A	145617189	3	1	39	1	0	0	0	0	1	0	0	0	291	1116	39	1	1101	1	ADCK5	8	145617189	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	743134	145617189	746833	45	2836											
GLIS3	169792	broad.mit.edu	37	chr9	3856040	3856040	+	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	ataccatttggttgaaaagaAgagtttgtttctggctgata	12	15	10	4	0	1	4	0	2	1	2	1	4	1	4	1	2	1	4	1	2	5	6			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:3856040A>G	ENST00000324333.10	-	8	2170	c.1977T>C	c.(1975-1977)tcT>tcC	p.S659S	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.S814S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	659					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTTGAAAAGAAGAGTTTGTTT	0.443																																						.											0													150	145	146					9																	3856040		2203	4300	6503	SO:0001819	synonymous_variant	169792			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.1977T>C	9.37:g.3856040A>G			B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	CCDS6451.1																																																																																				0.443	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		G	3856040	A	G	3856040	2	3	39	1	0	0	0	0	0	0	0	1	6447	59	3	2		2	GLIS3	9	3856040	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10		3856040	137357391	46	2837											
HABP4	22927	broad.mit.edu	37	chr9	99227725	99227725	+	Missense_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	ctgggaacagagtttttgacGcttttgaccagagaggaaag	12	10	13	6	1	0	4	0	2	0	2	0	7	0	6	1	2	1	2	1	2	2	4	rs375474752		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:99227725G>T	ENST00000375249.4	+	3	694	c.619G>T	c.(619-621)Gct>Tct	p.A207S	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGTTTTTGACGCTTTTGACCA	0.473																																						.											0													116	126	122					9																	99227725		2203	4300	6503	SO:0001583	missense	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.619G>T	9.37:g.99227725G>T	ENSP00000364398:p.Ala207Ser			Missense_Mutation	SNP	ENST00000375249.4	37	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	7.251	0.603304	0.14002	.	.	ENSG00000130956	ENST00000375249	T	0.28255	1.62	4.86	-0.806	0.10875	.	0.826723	0.11648	N	0.543070	T	0.08714	0.0216	N	0.01352	-0.895	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.27773	-1.0064	10	0.31617	T	0.26	-0.1667	3.8665	0.09018	0.2946:0.0:0.436:0.2694	.	207	Q5JVS0	HABP4_HUMAN	S	207	ENSP00000364398:A207S	ENSP00000364398:A207S	A	+	1	0	HABP4	98267546	0.912000	0.30974	0.001000	0.08648	0.160000	0.22226	0.612000	0.24283	-0.228000	0.09869	-0.365000	0.07479	GCT		0.473	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		T	99227725	G	T	99227725	3	4	39	1	0	0	0	0	1	0	0	0	6939	1087	38	5	629	5	HABP4	9	99227725	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	95371685	99227725	41985706	47	2838											
NUP188	23511	broad.mit.edu	37	chr9	131730829	131730829	+	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	tttgttcagtgccttcgggaAcagtccatgctgctagaaat	9	13	10	9	1	1	1	1	0	0	1	3	2	2	2	2	1	4	3	2	1	3	4			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:131730829A>G	ENST00000372577.2	+	9	651	c.630A>G	c.(628-630)gaA>gaG	p.E210E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	210					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						GCCTTCGGGAACAGTCCATGC	0.388																																						.											0													110	108	109					9																	131730829		2203	4300	6503	SO:0001819	synonymous_variant	23511			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.630A>G	9.37:g.131730829A>G			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	CCDS35156.1																																																																																				0.388	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			G	131730829	A	G	131730829	2	3	39	1	0	0	0	0	0	0	0	1	10758	40	2	2		2	NUP188	9	131730829	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	32503104	131730829	9482602	48	2839											
SNAPC4	6621	mdanderson.org	37	chr9	139272502	139272502	+	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	ttctcaggcccaggctggggTaggggcggcttctccaggtc	4	9	16	12	1	2	0	1	0	2	0	5	0	2	0	2	8	0	3	2	8	1	3	rs3812565	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:139272502T>C	ENST00000298532.2	-	21	4145	c.3777A>G	c.(3775-3777)ctA>ctG	p.L1259L		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)		CAGGCTGGGGTAGGGGCGGCT	0.746													N|||	1642	0.327875	0.2935	0.5648	5008	,	,		12956	0.1885		0.3549	False		,,,				2504	0.3221					.											0										899,2601		168,563,1019	4	5	4		3777	-2.4	0	9	dbSNP_107	4	2448,4658		514,1420,1619	no	coding-synonymous	SNAPC4	NM_003086.2		682,1983,2638	CC,CT,TT		34.4498,25.6857,31.5576		1259/1470	139272502	3347,7259	1750	3553	5303	SO:0001819	synonymous_variant	6621			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.3777A>G	9.37:g.139272502T>C				Silent	SNP	ENST00000298532.2	37	CCDS6998.1																																																																																				0.746	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		C	139272502	T	C	139272502	2	2	39	1	0	0	0	0	0	0	0	1	14837	1625	57	2		2	SNAPC4	9	139272502	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	7541673	139272502	1940929	49	2840											
ZNF438	220929	broad.mit.edu	37	chr10	31138701	31138701	+	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	gcaggagggttcagactgccAtgggtgttggtcactggtgg	6	10	18	7	0	2	1	2	0	0	1	2	2	2	2	1	6	1	3	1	6	0	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:31138701A>G	ENST00000361310.3	-	6	962	c.633T>C	c.(631-633)caT>caC	p.H211H	ZNF438_ENST00000442986.1_Silent_p.H211H|ZNF438_ENST00000331737.6_Silent_p.H201H|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000538351.2_Silent_p.H162H|ZNF438_ENST00000436087.2_Silent_p.H211H|ZNF438_ENST00000413025.1_Silent_p.H211H|ZNF438_ENST00000452305.1_Silent_p.H201H|ZNF438_ENST00000444692.2_Silent_p.H201H			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	211					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)				TCAGACTGCCATGGGTGTTGG	0.552																																						.											0													133	120	124					10																	31138701		2203	4300	6503	SO:0001819	synonymous_variant	220929			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.633T>C	10.37:g.31138701A>G			A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	CCDS7168.1																																																																																				0.552	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31138701	A	G	31138701	2	3	39	1	0	0	0	0	0	0	0	1	17907	214	8	4		4	ZNF438	10	31138701	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10		31138701	104396046	50	2841											
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu	37	chr10	64957252	64957253	+	Frame_Shift_Ins	INS	-	-	A																															tggcagacccagtgaatgttINSaaacaatgttgcttcacatg																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:64957252_64957253insA	ENST00000399262.2	-	13	5780_5781	c.5562_5563insT	c.(5560-5565)tttaacfs	p.N1855fs	JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.N1673fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.N1636fs|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1855					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)					CAGTGAATGTTAAACAATGTTG	0.381																																						.											0																																										SO:0001589	frameshift_variant	221037			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.5563dupT	10.37:g.64957255_64957255dupA	ENSP00000382204:p.Asn1855fs		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	INS	ENST00000399262.2	37	CCDS41532.1																																																																																				0.381	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64957253	-	A	64957252	7	5	39	1	0	1	1	0	0	0	0	0	7950	1754	61	0	2115	0	JMJD1C	10	64957252	Frame_Shift_Ins	INS	-	TCGA-KN-8424-01A-11D-2310-10	33818551	64957252	70577495	51	2842	81	2									
JMJD1C	221037	bcgsc.ca	37	chr10	64957253	64957254	+	Frame_Shift_Ins	INS	-	-	A																															ggcagacccagtgaatgttaINSaacaatgttgcttcacatgc																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:64957253_64957254insA	ENST00000399262.2	-	13	5779_5780	c.5561_5562insT	c.(5560-5562)tttfs	p.F1854fs	JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.F1672fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.F1635fs|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1854					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)					AGTGAATGTTAAACAATGTTGC	0.386																																						.											0																																										SO:0001589	frameshift_variant	221037			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.5563dupT	10.37:g.64957255_64957255dupA	ENSP00000382204:p.Phe1854fs		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Ins	INS	ENST00000399262.2	37	CCDS41532.1																																																																																				0.386	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64957254	-	A	64957253	7	5	39	1	0	1	1	0	0	0	0	0	7950	359	13	0	2116	0	JMJD1C	10	64957253	Frame_Shift_Ins	INS	-	TCGA-KN-8424-01A-11D-2310-10	1	64957253	70577494	52	2843	81	2									
HPSE2	60495	ucsc.edu	37	chr10	100401630	100401630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttcctaatctggtcagAgagtgtgtctaacaggcgag	11	12	11	7	1	3	1	1	0	2	1	4	3	4	1	1	2	1	0	1	2	3	4			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:100401630A>G	ENST00000370552.3	-	7	1131	c.1072T>C	c.(1072-1074)Tct>Cct	p.S358P	HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P|HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	358					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATCTGGTCAGAGAGTGTGTCT	0.413																																						.											0													199	212	207					10																	100401630		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1072T>C	10.37:g.100401630A>G	ENSP00000359583:p.Ser358Pro		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.194608	0.58017	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.063185	0.64402	D	0.000003	T	0.28863	0.0716	N	0.12182	0.205	0.58432	D	0.999991	P;P;P;P	0.47191	0.879;0.744;0.867;0.891	P;B;B;P	0.51193	0.662;0.341;0.439;0.575	T	0.06789	-1.0807	10	0.30078	T	0.28	-6.6273	16.3979	0.83621	1.0:0.0:0.0:0.0	.	246;358;300;358	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	P	358;300;358;246	ENSP00000359583:S358P;ENSP00000359580:S300P;ENSP00000359577:S358P;ENSP00000384384:S246P	ENSP00000359577:S358P	S	-	1	0	HPSE2	100391620	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.613000	0.46351	2.333000	0.79357	0.533000	0.62120	TCT		0.413	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		G	100401630	A	G	100401630	3	3	39	1	0	0	0	0	1	0	0	0	7345	304	11	2	768	2	HPSE2	10	100401630	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	35444377	100401630	35133117	53	2844											
CYP2E1	1571	hgsc.bcm.edu	37	chr10	135346309	135346309	+	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	gaaagggtgaaggagcaccaTcaatctctggaccccaactg	13	6	11	11	0	2	1	1	1	1	0	3	4	2	3	3	3	2	1	3	3	4	0			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:135346309T>C	ENST00000463117.2	+	7	1034	c.762T>C	c.(760-762)caT>caC	p.H254H	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.H254H			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	254					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGGAGCACCATCAATCTCTGG	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													.											0													88	87	87					10																	135346309		2203	4300	6503	SO:0001819	synonymous_variant	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.762T>C	10.37:g.135346309T>C			Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	CCDS7686.1																																																																																				0.532	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		C	135346309	T	C	135346309	2	2	39	1	0	0	0	0	0	0	0	1	4170	1432	50	4		4	CYP2E1	10	135346309	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	34944679	135346309	188438	54	2845											
PKP3	11187	mdanderson.org	37	chr11	397063	397063	+	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	tgcgctcgctgcggctggggCccgggggcctggacgaccgc	2	5	19	15	6	0	0	0	0	0	0	1	2	0	1	3	6	2	3	3	6	0	0	rs113852684	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:397063C>A	ENST00000331563.2	+	3	638	c.562C>A	c.(562-564)Ccc>Acc	p.P188T		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	188					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGCTGGGGCCCGGGGGCCT	0.711													g|||	50	0.00998403	8e-04	0.0187	5008	,	,		13907	0		0.0318	False		,,,				2504	0.0041					.											0									THR/PRO	23,4305		0,23,2141	21	26	24		562	-7.3	0	11	dbSNP_132	24	178,8328		2,174,4077	no	missense	PKP3	NM_007183.2	38	2,197,6218	AA,AC,CC		2.0926,0.5314,1.5662	benign	188/798	397063	201,12633	2164	4253	6417	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.562C>A	11.37:g.397063C>A	ENSP00000331678:p.Pro188Thr		F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	CCDS7695.1	32	0.014652014652014652	0	0.0	12	0.03314917127071823	1	0.0017482517482517483	19	0.025065963060686015	g	0.001	-3.381430	0.00015	0.005314	0.020926	ENSG00000184363	ENST00000534401;ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80214	-1.35	3.66	-7.32	0.01436	.	2.113190	0.02807	N	0.123819	T	0.45915	0.1366	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.63804	-0.6554	10	0.17369	T	0.5	-0.6299	15.2	0.73130	0.0:0.3915:0.5262:0.0823	.	188	Q9Y446	PKP3_HUMAN	T	32;32;32;32;188;130	ENSP00000331678:P188T	ENSP00000331678:P188T	P	+	1	0	PKP3	387063	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	-1.689000	0.01923	-5.013000	0.00024	-4.230000	0.00009	CCC		0.711	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		A	397063	C	A	397063	3	1	39	1	0	0	0	0	1	0	0	0	11986	739	26	5	572	5	PKP3	11	397063	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10		397063	134609453	55	2846											
DNHD1	144132	bcgsc.ca	37	chr11	6592054	6592054	+	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	gcgcccagcttgcggaaaggCgactgcggcaacgcctagtg	8	5	15	13	5	0	0	0	0	0	0	0	2	0	1	2	3	4	2	2	3	3	2	rs80197979	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:6592054C>T	ENST00000527990.2	+	40	13312	c.13312C>T	c.(13312-13314)Cga>Tga	p.R4438*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.R4438*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4438					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)		TGCGGAAAGGCGACTGCGGCA	0.637													C|||	14	0.00279553	0.0091	0.0029	5008	,	,		19165	0		0	False		,,,				2504	0					.											0								C	stop/ARG	15,4247		0,15,2116	32	38	36		13312	3.8	1	11	dbSNP_132	36	0,8474		0,0,4237	yes	stop-gained	DNHD1	NM_144666.2		0,15,6353	TT,TC,CC		0.0,0.3519,0.1178		4438/4754	6592054	15,12721	2131	4237	6368	SO:0001587	stop_gained	144132			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.13312C>T	11.37:g.6592054C>T	ENSP00000436180:p.Arg4438*		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	56	25.341051	0.99964	0.003519	0.0	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	.	.	.	4.78	3.85	0.44370	.	0.363985	0.24105	N	0.041505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.986	10.3266	0.43796	0.1952:0.8047:0.0:0.0	.	.	.	.	X	4438;4438;706	.	ENSP00000254579:R4438X	R	+	1	2	DNHD1	6548630	0.705000	0.27846	0.996000	0.52242	0.324000	0.28378	0.828000	0.27435	1.199000	0.43173	0.563000	0.77884	CGA		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6592054	C	T	6592054	4	4	39	1	0	0	0	0	0	1	0	0	4668	760	27	1	13479	1	DNHD1	11	6592054	Nonsense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	6194991	6592054	128414462	56	2847											
USP28	57646	bcgsc.ca	37	chr11	113685956	113685956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcttaacaaaatttaTctcctcatctgtgactgttc	11	15	5	10	0	4	1	1	1	3	0	6	1	4	1	1	1	1	1	1	1	4	4	rs141617594		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:113685956T>C	ENST00000003302.4	-	14	1680	c.1612A>G	c.(1612-1614)Ata>Gta	p.I538V	USP28_ENST00000545540.1_Missense_Mutation_p.I413V|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000260188.5_Missense_Mutation_p.I538V|USP28_ENST00000537706.1_Missense_Mutation_p.I538V|USP28_ENST00000544967.1_Missense_Mutation_p.I246V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	538	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAAAATTTATCTCCTCATCT	0.403																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	.											0								T	VAL/ILE	1,4401	2.1+/-5.4	0,1,2200	141	134	136		1612	6	1	11	dbSNP_134	136	0,8592		0,0,4296	no	missense	USP28	NM_020886.2	29	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign	538/1078	113685956	1,12993	2201	4296	6497	SO:0001583	missense	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1612A>G	11.37:g.113685956T>C	ENSP00000003302:p.Ile538Val		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700283	0.48307	2.27E-4	0.0	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;T	0.42900	1.61;1.61;1.02;1.61;0.96;1.99	5.97	5.97	0.96955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.357783	0.35739	N	0.003003	T	0.29355	0.0731	L	0.28192	0.835	0.27353	N	0.956183	B;B;B;B	0.10296	0.001;0.001;0.001;0.003	B;B;B;B	0.09377	0.003;0.004;0.002;0.003	T	0.15178	-1.0446	10	0.49607	T	0.09	-3.0629	8.5621	0.33516	0.0:0.068:0.1317:0.8002	.	413;538;538;246	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	V	538;538;246;413;242;538	ENSP00000003302:I538V;ENSP00000260188:I538V;ENSP00000442431:I246V;ENSP00000444991:I413V;ENSP00000442257:I242V;ENSP00000445743:I538V	ENSP00000003302:I538V	I	-	1	0	USP28	113191166	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	3.302000	0.51849	2.285000	0.76669	0.477000	0.44152	ATA		0.403	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			C	113685956	T	C	113685956	3	2	39	1	0	0	0	0	1	0	0	0	17055	1435	50	4	1669	4	USP28	11	113685956	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	107093902	113685956	21320560	57	2848											
SLC4A8	9498	broad.mit.edu	37	chr12	51868953	51868954	+	Frame_Shift_Ins	INS	-	-	A																															ttcatcctctcaagcaccttINSaaagacgtttaagacgagcc																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:51868953_51868954insA	ENST00000453097.2	+	16	2352_2353	c.2135_2136insA	c.(2134-2139)ttaaagfs	p.LK712fs	SLC4A8_ENST00000358657.3_Frame_Shift_Ins_p.LK739fs|SLC4A8_ENST00000514353.3_Frame_Shift_Ins_p.LK659fs|SLC4A8_ENST00000394856.1_Frame_Shift_Ins_p.LK659fs	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)		TCAAGCACCTTAAAGACGTTTA	0.441																																						.											0																																										SO:0001589	frameshift_variant	9498			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.2138dupA	12.37:g.51868956_51868956dupA	ENSP00000405812:p.Leu712fs			Frame_Shift_Ins	INS	ENST00000453097.2	37	CCDS44890.1																																																																																				0.441	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		A	51868954	-	A	51868953	7	5	39	1	0	1	1	0	0	0	0	0	14659	1764	61	0	2197	0	SLC4A8	12	51868953	Frame_Shift_Ins	INS	-	TCGA-KN-8424-01A-11D-2310-10		51868953	81982942	58	2849											
ACVRL1	94	ucsc.edu	37	chr12	52306933	52306933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacctgcacgtgtgagAgcccacattgcaaggggcct	8	8	14	11	1	0	2	0	2	0	1	0	3	0	2	3	3	3	2	3	3	1	1			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:52306933A>G	ENST00000388922.4	+	3	395	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	ACVRL1_ENST00000550683.1_Missense_Mutation_p.S52G|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	38			S -> C. {ECO:0000269|PubMed:20414677}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CACGTGTGAGAGCCCACATTG	0.682																																						.											0													16	19	18					12																	52306933		2202	4299	6501	SO:0001583	missense	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.112A>G	12.37:g.52306933A>G	ENSP00000373574:p.Ser38Gly		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	A	1.615	-0.523057	0.04141	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683	D;D;D	0.97620	-4.46;-4.46;-4.46	5.76	0.823	0.18812	.	1.165910	0.06270	N	0.695557	D	0.87779	0.6263	N	0.01109	-1.01	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.80355	-0.1417	10	0.21014	T	0.42	.	7.4721	0.27355	0.6494:0.0:0.3506:0.0	.	38	P37023	ACVL1_HUMAN	G	38;38;52;52	ENSP00000373574:S38G;ENSP00000446724:S52G;ENSP00000447884:S52G	ENSP00000267008:S38G	S	+	1	0	ACVRL1	50593200	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.042000	0.13949	0.112000	0.17975	0.533000	0.62120	AGC		0.682	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			G	52306933	A	G	52306933	3	3	39	1	0	0	0	0	1	0	0	0	225	304	11	2	118	2	ACVRL1	12	52306933	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	437980	52306933	81544962	59	2850											
MON2	23041	hgsc.bcm.edu;mdanderson.org	37	chr12	62954344	62954344	+	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	ctcagcaaaaacaatgaagtAtctctggctgctctgaaaag	15	9	8	9	0	3	2	1	2	2	0	4	2	3	2	0	1	3	4	0	1	7	1			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:62954344A>T	ENST00000393632.2	+	26	3874	c.3483A>T	c.(3481-3483)gtA>gtT	p.V1161V	MON2_ENST00000393630.3_Silent_p.V1162V|MON2_ENST00000552738.1_Silent_p.V1138V|MON2_ENST00000393629.2_Silent_p.V1161V|MON2_ENST00000546600.1_Silent_p.V1161V|MON2_ENST00000280379.6_Silent_p.V1162V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1161					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAATGAAGTATCTCTGGCTG	0.403																																						.											0													75	78	77					12																	62954344		2203	4300	6503	SO:0001819	synonymous_variant	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3483A>T	12.37:g.62954344A>T			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	CCDS31849.1																																																																																				0.403	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		T	62954344	A	T	62954344	2	4	39	1	0	0	0	0	0	0	0	1	9700	436	16	5		5	MON2	12	62954344	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	10647411	62954344	70897551	60	2851											
KRR1	11103	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr12	75895756	75895756	+	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	atttgccttcaaaaagtattCaccactagccaattctttat	13	15	3	10	0	3	0	2	0	1	0	3	0	3	0	3	0	2	1	3	0	6	8			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:75895756C>T	ENST00000229214.4	-	8	879	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	KRR1_ENST00000438169.2_Missense_Mutation_p.E229K|GLIPR1_ENST00000266659.3_3'UTR	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	286	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AAAAAGTATTCACCACTAGCC	0.368																																						.											0													172	162	165					12																	75895756		2203	4300	6503	SO:0001583	missense	11103			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.856G>A	12.37:g.75895756C>T	ENSP00000229214:p.Glu286Lys		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566254	0.96540	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.59364	0.27;1.58	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.81128	0.4758	M	0.88640	2.97	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.77557	0.99;0.987	D	0.84343	0.0528	10	0.87932	D	0	-0.1297	19.5833	0.95478	0.0:1.0:0.0:0.0	.	229;286	E7EUQ0;Q13601	.;KRR1_HUMAN	K	286;229	ENSP00000229214:E286K;ENSP00000411740:E229K	ENSP00000229214:E286K	E	-	1	0	KRR1	74182023	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.517000	0.73759	2.612000	0.88384	0.655000	0.94253	GAA		0.368	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		T	75895756	C	T	75895756	3	4	39	1	0	0	0	0	1	0	0	0	8446	835	29	4	301	4	KRR1	12	75895756	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	12941412	75895756	57956139	61	2852											
CCDC62	84660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	123282632	123282632	+	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	tttgtcaatatctatgacagAtttatgtaaaacaacagagt	16	14	6	5	0	2	3	1	1	1	2	2	3	2	3	0	0	2	1	0	0	7	6			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:123282632A>T	ENST00000253079.6	+	8	1206	c.862A>T	c.(862-864)Att>Ttt	p.I288F	CCDC62_ENST00000392441.4_Splice_Site_p.I288F|CCDC62_ENST00000392440.2_Splice_Site_p.I49F|CCDC62_ENST00000537566.1_Splice_Site_p.I49F	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	288					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TCTATGACAGATTTATGTAAA	0.313																																						.											0													51	49	50					12																	123282632		2203	4299	6502	SO:0001630	splice_region_variant	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.862-1A>T	12.37:g.123282632A>T			A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636671	0.67130	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.56103	1.11;1.11;0.48;0.48	5.46	4.11	0.48088	.	0.098893	0.42682	D	0.000680	T	0.64670	0.2619	M	0.65498	2.005	0.80722	D	1	P;P;D	0.71674	0.741;0.928;0.998	P;P;D	0.69654	0.448;0.603;0.965	T	0.64918	-0.6294	9	.	.	.	-18.2933	7.848	0.29437	0.8933:0.0:0.1067:0.0	.	288;49;288	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	F	288;288;49;49	ENSP00000253079:I288F;ENSP00000376236:I288F;ENSP00000445045:I49F;ENSP00000376235:I49F	.	I	+	1	0	CCDC62	121848585	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	2.487000	0.45268	2.073000	0.62155	0.467000	0.42956	ATT		0.313	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573	Missense_Mutation	T	123282632	A	T	123282632	5	4	39	1	0	0	0	0	0	0	1	0	2833	347	12	5	892	5	CCDC62	12	123282632	Splice_Site	SNP	A	TCGA-KN-8424-01A-11D-2310-10	47386876	123282632	10569263	62	2853											
SCFD1	23256	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr14	31107412	31107412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaactggaagatattgcaAatgcagcgttagcagctagt	14	10	11	6	1	0	1	0	0	0	1	0	2	0	2	0	1	6	6	0	1	7	5			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr14:31107412A>G	ENST00000458591.2	+	5	621	c.394A>G	c.(394-396)Aat>Gat	p.N132D	SCFD1_ENST00000544052.2_Missense_Mutation_p.N65D|SCFD1_ENST00000421551.3_Missense_Mutation_p.N73D|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000396629.2_Missense_Mutation_p.N40D	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	132					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGATATTGCAAATGCAGCGTT	0.323																																						.											0													67	61	63					14																	31107412		2203	4300	6503	SO:0001583	missense	23256			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.394A>G	14.37:g.31107412A>G	ENSP00000390783:p.Asn132Asp		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964404	0.74131	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000557076;ENST00000396629	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.75	5.75	0.90469	.	0.048137	0.85682	D	0.000000	T	0.68988	0.3061	L	0.36672	1.1	0.80722	D	1	B;B;B	0.23806	0.091;0.019;0.001	B;B;B	0.29440	0.102;0.05;0.027	T	0.67825	-0.5570	10	0.72032	D	0.01	-19.7473	15.2403	0.73465	1.0:0.0:0.0:0.0	.	73;65;132	B7Z738;B7Z4U7;Q8WVM8	.;.;SCFD1_HUMAN	D	132;65;73;107;40	ENSP00000390783:N132D;ENSP00000443010:N65D;ENSP00000388078:N73D;ENSP00000450755:N107D;ENSP00000379870:N40D	ENSP00000309417:N140D	N	+	1	0	SCFD1	30177163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.796000	0.69080	2.185000	0.69588	0.533000	0.62120	AAT		0.323	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		G	31107412	A	G	31107412	3	3	39	1	0	0	0	0	1	0	0	0	13889	14	1	4	412	4	SCFD1	14	31107412	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		31107412	76242128	63	2854											
JAG2	3714	mdanderson.org	37	chr14	105609335	105609335	+	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	ttgtggccccccggccgctcAatggggttgcggatggggtt	3	10	17	11	3	1	0	1	0	0	0	1	1	1	1	4	7	1	3	4	7	1	3	rs10149229	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr14:105609335A>G	ENST00000331782.3	-	26	3817	c.3414T>C	c.(3412-3414)atT>atC	p.I1138I	JAG2_ENST00000347004.2_Silent_p.I1100I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1138					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)		CCGGCCGCTCAATGGGGTTGC	0.726													G|||	3455	0.689896	0.8941	0.6571	5008	,	,		10693	0.5337		0.66	False		,,,				2504	0.6288					.											0								G	,	3661,665		1557,547,59	17	20	19		3414,3300	-1.2	1	14	dbSNP_119	19	5713,2733		1963,1787,473	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	3520,2334,532	GG,GA,AA		32.3585,15.3722,26.6051	,	1138/1239,1100/1201	105609335	9374,3398	2163	4223	6386	SO:0001819	synonymous_variant	3714			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.3414T>C	14.37:g.105609335A>G			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	CCDS9998.1																																																																																				0.726	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			G	105609335	A	G	105609335	2	3	39	1	0	0	0	0	0	0	0	1	7935	126	5	4		4	JAG2	14	105609335	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	74501923	105609335	1740205	64	2855											
CACNA1H	8912	broad.mit.edu	37	chr16	1265531	1265531	+	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	tcccggccctagtgctgaagCtgctgaagatggctacgggc	7	8	14	12	2	0	3	0	2	0	1	1	3	1	3	2	3	4	4	2	3	4	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:1265531C>T	ENST00000348261.5	+	30	5430	c.5182C>T	c.(5182-5184)Ctg>Ttg	p.L1728L	CACNA1H_ENST00000358590.4_Silent_p.L1722L|CACNA1H_ENST00000565831.1_Silent_p.L1722L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1728					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)	AGTGCTGAAGCTGCTGAAGAT	0.721																																						.											0													28	32	31					16																	1265531		2042	4180	6222	SO:0001819	synonymous_variant	8912			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.5182C>T	16.37:g.1265531C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1265531	C	T	1265531	2	4	39	1	0	0	0	0	0	0	0	1	2545	796	28	4		4	CACNA1H	16	1265531	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10		1265531	89089222	65	2856											
CACNA1H	8912	mdanderson.org	37	chr16	1268485	1268485	+	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	ttgccccaggagagtccgggCgccagggacgccccaaacct	8	4	13	16	3	0	1	0	0	0	1	1	3	1	2	7	3	2	0	7	3	1	1	rs2738891	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:1268485C>T	ENST00000348261.5	+	33	5969	c.5721C>T	c.(5719-5721)ggC>ggT	p.G1907G	CACNA1H_ENST00000358590.4_Silent_p.G1901G|CACNA1H_ENST00000565831.1_Silent_p.G1901G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1907					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)	AGAGTCCGGGCGCCAGGGACG	0.692													C|||	449	0.0896565	0.0113	0.0605	5008	,	,		14302	0.0317		0.1133	False		,,,				2504	0.2515					.											0								C	,	94,3926		0,94,1916	22	29	27		5703,5721	-3	0	16	dbSNP_100	27	969,7165		49,871,3147	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	49,965,5063	TT,TC,CC		11.913,2.3383,8.7461	,	1901/2348,1907/2354	1268485	1063,11091	2010	4067	6077	SO:0001819	synonymous_variant	8912			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.5721C>T	16.37:g.1268485C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1268485	C	T	1268485	2	4	39	1	0	0	0	0	0	0	0	1	2545	755	27	1		1	CACNA1H	16	1268485	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10	2954	1268485	89086268	66	2857											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7574017	7574017	+	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	gctctcggaacatctcgaagCgctcacgcccacggatctgc	8	7	10	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0	rs121912664		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:7574017C>T	ENST00000269305.4	-	10	1199	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337H|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337L(15)|p.0?(8)|p.R337H(4)|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)	CATCTCGAAGCGCTCACGCCC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	GRCh37	CM012663	TP53	M	rs121912664						57	45	49					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	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;	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.1010G>A	17.37:g.7574017C>T	ENSP00000269305:p.Arg337His		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	14.54	2.565214	0.45694	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95171	-3.63;-3.63	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.73598	2.24	0.40311	D	0.97871	D	0.53462	0.96	P	0.53146	0.719	D	0.94086	0.7348	10	0.62326	D	0.03	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	H	337;337;326	ENSP00000269305:R337H;ENSP00000391478:R337H	ENSP00000269305:R337H	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7574017	C	T	7574017	3	4	39	1	0	0	0	0	1	0	0	0	16378	768	27	1	179	1	TP53	17	7574017	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10		7574017	73621193	67	2858											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7578403	7578403	+	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	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49	49	49					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	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;	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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		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	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	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	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578403	C	A	7578403	3	1	39	1	0	0	0	0	1	0	0	0	16378	710	25	5	771	5	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	4386	7578403	73616807	68	2859											
LLGL2	3993	broad.mit.edu;hgsc.bcm.edu	37	chr17	73566231	73566231	+	Frame_Shift_Del	DEL	T	T	-																															gcagtgtcagcccccggctgTggtcacctccttggccctgc																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73566231delT	ENST00000392550.3	+	15	1886	c.1769delT	c.(1768-1770)gtgfs	p.V591fs	LLGL2_ENST00000577200.1_Frame_Shift_Del_p.V591fs|LLGL2_ENST00000167462.5_Frame_Shift_Del_p.V591fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	591					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)			CCCCCGGCTGTGGTCACCTCC	0.672																																						.											0													32	26	28					17																	73566231		2188	4295	6483	SO:0001589	frameshift_variant	3993			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.1769delT	17.37:g.73566231delT	ENSP00000376333:p.Val591fs		Q14521|Q9BR62	Frame_Shift_Del	DEL	ENST00000392550.3	37	CCDS32733.1																																																																																				0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		-	73566231	T	-	73566231	7	5	39	1	0	1	0	1	0	0	0	0	8834	1696	59	0	1858	0	LLGL2	17	73566231	Frame_Shift_Del	DEL	T	TCGA-KN-8424-01A-11D-2310-10	65987828	73566231	7628979	69	2860	82	2									
LLGL2	3993	bcgsc.ca	37	chr17	73566232	73566232	+	Frame_Shift_Del	DEL	T	T	-																															cagtgtcagcccccggctgtGgtcacctccttggccctgca																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73566232delT	ENST00000392550.3	+	15	1887	c.1770delT	c.(1768-1770)gttfs	p.V591fs	LLGL2_ENST00000577200.1_Frame_Shift_Del_p.V591fs|LLGL2_ENST00000167462.5_Frame_Shift_Del_p.V591fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	591					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)			CCCCGGCTGTGGTCACCTCCT	0.672																																						.											0													32	26	28					17																	73566232		2189	4295	6484	SO:0001589	frameshift_variant	3993			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.1770delT	17.37:g.73566232delT	ENSP00000376333:p.Val591fs		Q14521|Q9BR62	Frame_Shift_Del	DEL	ENST00000392550.3	37	CCDS32733.1																																																																																				0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		-	73566232	T	-	73566232	7	5	39	1	0	1	0	1	0	0	0	0	8834	1335	47	0	1859	0	LLGL2	17	73566232	Frame_Shift_Del	DEL	T	TCGA-KN-8424-01A-11D-2310-10	1	73566232	7628978	70	2861	82	2									
UNC13D	201294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	73826730	73826730	+	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	ggccgcctgcagctccaggtCcctctgcagagcctgggaac	6	6	13	16	1	1	1	0	0	1	1	3	2	3	2	5	3	5	3	5	3	1	0			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73826730C>T	ENST00000207549.4	-	28	3017	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	UNC13D_ENST00000412096.2_Missense_Mutation_p.D880N	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	880	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				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)			AGCTCCAGGTCCCTCTGCAGA	0.647									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													22	21	22					17																	73826730		2174	4254	6428	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	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.2638G>A	17.37:g.73826730C>T	ENSP00000207549:p.Asp880Asn	1148	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087391	0.36855	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	T;T	0.73469	-0.75;-0.75	4.71	2.59	0.31030	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.544272	0.19149	N	0.121481	T	0.57548	0.2061	N	0.25647	0.755	0.28887	N	0.894087	B	0.15930	0.015	B	0.13407	0.009	T	0.46133	-0.9213	10	0.18276	T	0.48	-0.9902	10.0074	0.41965	0.0:0.815:0.0:0.185	.	880	Q70J99	UN13D_HUMAN	N	880	ENSP00000207549:D880N;ENSP00000388093:D880N	ENSP00000207549:D880N	D	-	1	0	UNC13D	71338325	0.533000	0.26354	0.986000	0.45419	0.880000	0.50808	0.864000	0.27926	1.208000	0.43306	-0.448000	0.05591	GAC		0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		T	73826730	C	T	73826730	3	4	39	1	0	0	0	0	1	0	0	0	16984	855	30	3	654	3	UNC13D	17	73826730	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	260498	73826730	7368480	71	2862											
SFRS2	6427	ucsc.edu	37	chr17	74733037	74733037	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcatccatagcgtccTcagcgtcgcgcttgtcgtga	6	10	11	14	5	1	1	1	1	0	0	5	1	3	1	3	1	2	2	3	1	1	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:74733037T>C	ENST00000392485.2	-	1	378	c.206A>G	c.(205-207)gAg>gGg	p.E69G	MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.E69G|SRSF2_ENST00000359995.5_Missense_Mutation_p.E69G|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	69	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CATAGCGTCCTCAGCGTCGCG	0.692			Mis		"MDS, CLL"																																	.		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													31	36	34					17																	74733037		2201	4297	6498	SO:0001583	missense	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.206A>G	17.37:g.74733037T>C	ENSP00000376276:p.Glu69Gly		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088353	0.55968	.	.	ENSG00000161547	ENST00000452355;ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T	0.19250	2.16;2.16;2.16	4.18	4.18	0.49190	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.060490	0.64402	D	0.000006	T	0.45657	0.1353	M	0.87827	2.91	0.80722	D	1	P;P	0.42692	0.787;0.787	P;P	0.54889	0.636;0.763	T	0.53165	-0.8477	10	0.72032	D	0.01	.	12.9011	0.58125	0.0:0.0:0.0:1.0	.	69;69	B4DN89;Q01130	.;SRSF2_HUMAN	G	69;69;96;57;69	ENSP00000391278:E69G;ENSP00000376276:E69G;ENSP00000353089:E69G	ENSP00000350877:E57G	E	-	2	0	SRSF2	72244632	1.000000	0.71417	0.965000	0.40720	0.703000	0.40648	7.527000	0.81931	1.530000	0.49136	0.379000	0.24179	GAG		0.692	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		C	74733037	T	C	74733037	3	2	39	1	0	0	0	0	1	0	0	0	14175	1551	54	2	467	2	SFRS2	17	74733037	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	906307	74733037	6462173	72	2863											
ZBTB7C	201501	mdanderson.org	37	chr18	45555829	45555829	+	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	cgcccgaacagcttcatctgTgtctcctcgaactgccgctc	6	10	8	17	4	3	0	1	0	2	0	6	2	3	0	3	0	4	2	3	0	2	1	rs7231151	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:45555829T>C	ENST00000588982.1	-	4	2163	c.1662A>G	c.(1660-1662)acA>acG	p.T554T	ZBTB7C_ENST00000535628.2_Silent_p.T554T|ZBTB7C_ENST00000332053.2_Silent_p.T554T|ZBTB7C_ENST00000586438.1_Silent_p.T554T|ZBTB7C_ENST00000590800.1_Silent_p.T554T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	554							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						GCTTCATCTGTGTCTCCTCGA	0.721													C|||	2061	0.411542	0.562	0.366	5008	,	,		9999	0.4673		0.2594	False		,,,				2504	0.3395					.											0								C		2040,2344		497,1046,649	12	12	12		1662	0.5	1	18	dbSNP_116	12	2358,6186		325,1708,2239	no	coding-synonymous	ZBTB7C	NM_001039360.2		822,2754,2888	CC,CT,TT		27.5983,46.5328,34.0192		554/620	45555829	4398,8530	2192	4272	6464	SO:0001819	synonymous_variant	201501			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.1662A>G	18.37:g.45555829T>C			O73453	Silent	SNP	ENST00000588982.1	37	CCDS32830.1																																																																																				0.721	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		C	45555829	T	C	45555829	2	2	39	1	0	0	0	0	0	0	0	1	17552	1683	59	2		2	ZBTB7C	18	45555829	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10		45555829	32521419	73	2864											
NEDD4L	23327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	56063457	56063457	+	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	aagatttacgagagaaacttCtcatggccgtggaaaatgct	14	10	10	7	2	1	2	1	0	1	2	2	5	1	3	1	2	3	1	1	2	5	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:56063457C>T	ENST00000400345.3	+	31	3167	c.2884C>T	c.(2884-2886)Ctc>Ttc	p.L962F	NEDD4L_ENST00000256832.7_Missense_Mutation_p.L822F|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L821F|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L821F|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L942F|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L934F|NEDD4L_ENST00000456986.1_Missense_Mutation_p.L841F|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L841F|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L954F|RP11-845C23.3_ENST00000590318.1_RNA|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L898F|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L858F|NEDD4L_ENST00000589054.1_Missense_Mutation_p.L93F	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	962	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						AGAGAAACTTCTCATGGCCGT	0.453																																						.											0													103	88	93					18																	56063457		1868	4113	5981	SO:0001583	missense	23327			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.2884C>T	18.37:g.56063457C>T	ENSP00000383199:p.Leu962Phe		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.080156	0.55753	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.77	5.77	0.91146	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.86097	2.795	0.80722	D	1	D;P;D;D;D;D	0.71674	0.965;0.943;0.996;0.998;0.972;0.965	P;P;P;D;P;P	0.72075	0.522;0.522;0.798;0.976;0.653;0.522	T	0.80372	-0.1410	10	0.54805	T	0.06	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	934;954;821;898;962;942	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	F	962;942;898;858;822;841;954;821;821;841	ENSP00000383199:L962F;ENSP00000372301:L942F;ENSP00000348847:L898F;ENSP00000256830:L858F;ENSP00000256832:L822F;ENSP00000411947:L841F;ENSP00000350569:L954F;ENSP00000393395:L821F;ENSP00000405440:L821F;ENSP00000389406:L841F	ENSP00000256830:L858F	L	+	1	0	NEDD4L	54214437	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.880000	0.69698	2.890000	0.99128	0.650000	0.86243	CTC		0.453	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			T	56063457	C	T	56063457	3	4	39	1	0	0	0	0	1	0	0	0	10311	913	32	4	3034	4	NEDD4L	18	56063457	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	10507628	56063457	22013791	74	2865											
NFATC1	4772	mdanderson.org	37	chr18	77171061	77171061	+	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	tcctccagacccgcgtccccTtgcaacaagaggaagtacag	11	6	9	15	2	0	2	0	0	0	2	3	3	3	3	5	1	3	2	5	1	4	2	rs2230112	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:77171061T>G	ENST00000427363.2	+	2	786	c.786T>G	c.(784-786)ccT>ccG	p.P262P	NFATC1_ENST00000318065.5_Silent_p.P249P|NFATC1_ENST00000592223.1_Silent_p.P249P|NFATC1_ENST00000586434.1_Silent_p.P249P|NFATC1_ENST00000587635.1_Silent_p.P262P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Silent_p.P262P|NFATC1_ENST00000591814.1_Silent_p.P262P|NFATC1_ENST00000329101.4_Silent_p.P249P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Silent_p.P262P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	262	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCGCGTCCCCTTGCAACAAGA	0.721													G|||	2958	0.590655	0.1483	0.768	5008	,	,		13414	0.8562		0.7018	False		,,,				2504	0.6748				GBM(151;1210 2593 28719 45011)	.											0								G	,,,,	1124,3252		179,766,1243	14	16	15		786,747,,747,786	-1.8	0.1	18	dbSNP_98	15	5959,2571		2120,1719,426	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	2299,2485,1669	GG,GT,TT		30.1407,25.6856,45.1185	,,,,	262/826,249/931,,249/813,262/717	77171061	7083,5823	2188	4265	6453	SO:0001819	synonymous_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.786T>G	18.37:g.77171061T>G			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37																																																																																					0.721	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		G	77171061	T	G	77171061	2	3	39	1	0	0	0	0	0	0	0	1	10361	1596	56	5		5	NFATC1	18	77171061	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	21107604	77171061	906187	75	2866											
C19orf26	255057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	1236022	1236022	+	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	cgtccagtggcattgtcccaCgacgtcgtcagggctactgt	6	10	12	13	4	1	0	1	0	0	0	4	1	3	0	2	2	1	2	2	2	1	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:1236022C>T	ENST00000382477.2	-	2	334	c.60G>A	c.(58-60)tcG>tcA	p.S20S	C19orf26_ENST00000215376.6_Silent_p.S20S|C19orf26_ENST00000590083.1_Silent_p.S26S|AC004221.2_ENST00000592843.1_lincRNA			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	20	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)		CATTGTCCCACGACGTCGTCA	0.687										HNSCC(14;0.022)																												.											0													50	38	42					19																	1236022		2201	4297	6498	SO:0001819	synonymous_variant	255057			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.60G>A	19.37:g.1236022C>T			O43385	Silent	SNP	ENST00000382477.2	37																																																																																					0.687	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		T	1236022	C	T	1236022	2	4	39	1	0	0	0	0	0	0	0	1	1916	523	19	1		1	C19orf26	19	1236022	Silent	SNP	C	TCGA-KN-8424-01A-11D-2310-10		1236022	57892961	76	2867											
ARHGEF18	23370	broad.mit.edu	37	chr19	7504944	7504944	+	Missense_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	cgaggcataaaaacggcgcaGcccagcctggcgccgcgccg	9	2	14	16	7	0	0	0	0	0	0	0	1	0	0	4	3	3	2	4	3	3	1			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:7504944G>A	ENST00000359920.6	+	1	371	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	40					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)				AAACGGCGCAGCCCAGCCTGG	0.662																																						.											0													24	24	24					19																	7504944		692	1591	2283	SO:0001583	missense	23370			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.118G>A	19.37:g.7504944G>A	ENSP00000352995:p.Ala40Thr		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704937	0.30232	.	.	ENSG00000104880	ENST00000359920	T	0.34072	1.38	5.23	2.92	0.33932	.	1.322080	0.05826	U	0.616753	T	0.24812	0.0602	N	0.24115	0.695	0.09310	N	0.999999	B	0.30068	0.267	B	0.22386	0.039	T	0.24083	-1.0170	10	0.87932	D	0	-3.5629	6.1624	0.20372	0.0:0.2002:0.5654:0.2344	.	40	Q6ZSZ5	ARHGI_HUMAN	T	40	ENSP00000352995:A40T	ENSP00000352995:A40T	A	+	1	0	ARHGEF18	7410944	0.005000	0.15991	0.006000	0.13384	0.435000	0.31806	1.277000	0.33167	1.172000	0.42781	0.561000	0.74099	GCC		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		A	7504944	G	A	7504944	3	1	39	1	0	0	0	0	1	0	0	0	901	971	34	4	120	4	ARHGEF18	19	7504944	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	6268922	7504944	51624039	77	2868											
MUC16	94025	mdanderson.org	37	chr19	9018476	9018476	+	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	tcagtggtgttgaacttcctGgagccagggcgatgcatgtc	7	11	14	9	1	1	1	1	1	0	0	3	3	2	2	2	3	3	2	2	3	1	2	rs112059772		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:9018476G>A	ENST00000397910.4	-	24	37901	c.37698C>T	c.(37696-37698)tcC>tcT	p.S12566S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12568	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAACTTCCTGGAGCCAGGGC	0.557																																						.											0																																										SO:0001819	synonymous_variant	94025			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.37698C>T	19.37:g.9018476G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9018476	G	A	9018476	2	1	39	1	0	0	0	0	0	0	0	1	9973	1335	47	4		4	MUC16	19	9018476	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	1513532	9018476	50110507	78	2869											
COL5A3	50509	mdanderson.org	37	chr19	10077419	10077419	+	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	cccatgcagctcggcaggggCaccctgggcgtaggggatgg	6	5	18	12	2	0	0	0	0	0	0	1	1	0	1	2	7	2	5	2	7	1	1	rs3745584	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:10077419C>G	ENST00000264828.3	-	63	4547	c.4462G>C	c.(4462-4464)Gcc>Ccc	p.A1488P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1488	Collagen-like 6.|Triple-helical region.		A -> P (in dbSNP:rs3745584).		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)			TCGGCAGGGGCACCCTGGGCG	0.672													G|||	1834	0.366214	0.1392	0.3329	5008	,	,		12299	0.5337		0.3509	False		,,,				2504	0.5399					.											0								G	PRO/ALA	480,3178		43,394,1392	3	3	3		4462	2	0.4	19	dbSNP_107	3	2011,5393		291,1429,1982	yes	missense	COL5A3	NM_015719.3	27	334,1823,3374	GG,GC,CC		27.161,13.1219,22.5185	benign	1488/1746	10077419	2491,8571	1829	3702	5531	SO:0001583	missense	50509			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.4462G>C	19.37:g.10077419C>G	ENSP00000264828:p.Ala1488Pro		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	769	0.35210622710622713	68	0.13821138211382114	124	0.3425414364640884	313	0.5472027972027972	264	0.3482849604221636	G	0.046	-1.264850	0.01433	0.131219	0.27161	ENSG00000080573	ENST00000264828	D	0.88046	-2.33	4.18	2.01	0.26516	.	0.342020	0.26627	N	0.023334	T	0.00012	0.0000	N	0.02403	-0.565	0.45676	P	0.0014079999999999648	B	0.02656	0.0	B	0.01281	0.0	T	0.37454	-0.9705	9	0.02654	T	1	.	4.0727	0.09889	0.2249:0.1938:0.5813:0.0	rs3745584;rs61076096;rs3745584	1488	P25940	CO5A3_HUMAN	P	1488	ENSP00000264828:A1488P	ENSP00000264828:A1488P	A	-	1	0	COL5A3	9938419	0.322000	0.24634	0.402000	0.26371	0.167000	0.22549	0.127000	0.15790	0.080000	0.16959	-0.368000	0.07277	GCC		0.672	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		G	10077419	C	G	10077419	3	3	39	1	0	0	0	0	1	0	0	0	3698	710	25	5	795	5	COL5A3	19	10077419	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	1058943	10077419	49051564	79	2870											
KANK2	25959	mdanderson.org	37	chr19	11303943	11303943	+	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	atgcccaagtcccgttctcgAacccaggtgcccacactccg	8	7	8	18	3	1	0	0	0	1	0	4	1	3	0	5	1	3	1	5	1	2	1	rs3745681	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:11303943A>G	ENST00000586659.1	-	4	1127	c.813T>C	c.(811-813)gtT>gtC	p.V271V	KANK2_ENST00000355150.5_Silent_p.V271V|KANK2_ENST00000432929.2_Silent_p.V271V|KANK2_ENST00000589894.1_Silent_p.V271V|KANK2_ENST00000589359.1_Silent_p.V271V			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	271					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						CCCGTTCTCGAACCCAGGTGC	0.692													G|||	2531	0.505391	0.6483	0.4265	5008	,	,		15958	0.4514		0.3787	False		,,,				2504	0.5542					.											0								G	,	2625,1773		791,1043,365	26	28	27		813,813	-2.5	0.9	19	dbSNP_107	27	3333,5259		652,2029,1615	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	1443,3072,1980	GG,GA,AA		38.7919,40.3138,45.8661	,	271/852,271/860	11303943	5958,7032	2199	4296	6495	SO:0001819	synonymous_variant	25959			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.813T>C	19.37:g.11303943A>G			B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																				0.692	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		G	11303943	A	G	11303943	2	3	39	1	0	0	0	0	0	0	0	1	7977	233	9	4		4	KANK2	19	11303943	Silent	SNP	A	TCGA-KN-8424-01A-11D-2310-10	1226524	11303943	47825040	80	2871											
GDF15	9518	mdanderson.org	37	chr19	18499238	18499238	+	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	tcgtgggacgtgacacgaccGctgcggcgtcagctcagcct	6	7	14	14	6	2	1	2	1	0	0	3	3	2	2	2	2	3	2	2	2	0	0	rs1804826	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:18499238G>T	ENST00000252809.3	+	2	452	c.420G>T	c.(418-420)ccG>ccT	p.P140P	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	140					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TGACACGACCGCTGCGGCGTC	0.716											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1323	0.264177	0.1611	0.3573	5008	,	,		13438	0.4276		0.2475	False		,,,				2504	0.1861					.											0								G		677,3579		70,537,1521	10	12	12		420	-0.5	0	19	dbSNP_89	12	1879,6511		245,1389,2561	no	coding-synonymous	GDF15	NM_004864.2		315,1926,4082	TT,TG,GG		22.3957,15.907,20.2119		140/309	18499238	2556,10090	2128	4195	6323	SO:0001819	synonymous_variant	9518			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"prostate differentiation factor"	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.420G>T	19.37:g.18499238G>T		726	O14629|P78360|Q9BWA0|Q9NRT0	Silent	SNP	ENST00000252809.3	37	CCDS12376.1																																																																																				0.716	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		T	18499238	G	T	18499238	2	4	39	1	0	0	0	0	0	0	0	1	6313	1074	38	5		5	GDF15	19	18499238	Silent	SNP	G	TCGA-KN-8424-01A-11D-2310-10	7195295	18499238	40629745	81	2872											
CIC	23152	ucsc.edu	37	chr19	42791707	42791707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgcagcgggagaaggAccacatccggcggcccatga	11	6	13	11	3	0	2	0	1	0	1	1	4	1	3	3	4	2	1	3	4	2	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:42791707A>G	ENST00000575354.2	+	5	633	c.593A>G	c.(592-594)gAc>gGc	p.D198G	CIC_ENST00000572681.2_Missense_Mutation_p.D1107G|CIC_ENST00000160740.3_Missense_Mutation_p.D198G	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	198					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)				CGGGAGAAGGACCACATCCGG	0.622			"Mis, F, S"		oligodendroglioma																																	.		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													68	73	71					19																	42791707		2203	4300	6503	SO:0001583	missense	23152			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.593A>G	19.37:g.42791707A>G	ENSP00000458663:p.Asp198Gly		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333647	0.60853	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);	.	.	.	.	T	0.61451	0.2348	N	0.26130	0.795	0.52099	D	0.999944	D	0.67145	0.996	D	0.68039	0.955	T	0.65586	-0.6132	8	0.87932	D	0	-18.5985	11.626	0.51145	1.0:0.0:0.0:0.0	.	198	Q96RK0	CIC_HUMAN	G	198	.	ENSP00000160740:D198G	D	+	2	0	CIC	47483547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.740000	0.74832	1.853000	0.53794	0.454000	0.30748	GAC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			G	42791707	A	G	42791707	3	3	39	1	0	0	0	0	1	0	0	0	3424	275	10	2	611	2	CIC	19	42791707	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	24292469	42791707	16337276	82	2873											
SIGLEC1	6614	broad.mit.edu;bcgsc.ca	37	chr20	3669873	3669873	+	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	ctgcttacaaacacgcctccTtctgcaaggcccggagtgga	9	8	10	14	2	1	0	0	0	1	0	2	2	2	2	3	3	4	2	3	3	3	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr20:3669873T>C	ENST00000344754.4	-	20	4998	c.4999A>G	c.(4999-5001)Agg>Ggg	p.R1667G	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1667					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						ACACGCCTCCTTCTGCAAGGC	0.587																																						.											0													179	158	165					20																	3669873		2203	4300	6503	SO:0001630	splice_region_variant	6614			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.4998-1A>G	20.37:g.3669873T>C			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363971	0.41902	.	.	ENSG00000088827	ENST00000344754	T	0.33216	1.42	5.13	4.02	0.46733	.	0.364252	0.20218	N	0.096755	T	0.21590	0.0520	L	0.29908	0.895	0.52501	D	0.999954	B	0.23058	0.079	B	0.19391	0.025	T	0.04767	-1.0928	10	0.62326	D	0.03	.	7.7455	0.28866	0.0:0.0965:0.0:0.9035	.	1667	Q9BZZ2	SN_HUMAN	G	1667	ENSP00000341141:R1667G	ENSP00000341141:R1667G	R	-	1	2	SIGLEC1	3617873	0.158000	0.22850	0.548000	0.28192	0.080000	0.17528	1.044000	0.30329	0.895000	0.36342	0.533000	0.62120	AGG		0.587	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	Missense_Mutation	C	3669873	T	C	3669873	5	2	39	1	0	0	0	0	0	0	1	0	14305	1623	56	2	138	2	SIGLEC1	20	3669873	Splice_Site	SNP	T	TCGA-KN-8424-01A-11D-2310-10		3669873	59355647	83	2874											
SGK2	10110	bcgsc.ca	37	chr20	42199308	42199308	+	Missense_Mutation	SNP	T	T	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	tcctggagccccgggccaggTtctacgctgctgaggtggcc	4	8	15	14	2	1	1	0	1	1	0	2	2	2	2	5	5	3	3	5	5	1	2			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr20:42199308T>C	ENST00000341458.4	+	6	811	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	SGK2_ENST00000426287.1_Missense_Mutation_p.F164L|SGK2_ENST00000373092.3_Missense_Mutation_p.F138L|SGK2_ENST00000373100.1_Missense_Mutation_p.F138L|SGK2_ENST00000423407.3_Missense_Mutation_p.F138L|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000373077.1_Missense_Mutation_p.F137L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGGGCCAGGTTCTACGCTGC	0.627																																						.											0													57	60	59					20																	42199308		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.592T>C	20.37:g.42199308T>C	ENSP00000340608:p.Phe198Leu		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	T	34	5.328708	0.95733	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.92	4.92	0.64577	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	0.75243	0.3823	L	0.59912	1.85	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	0.77448	-0.2584	10	0.62326	D	0.03	.	14.235	0.65919	0.0:0.0:0.0:1.0	.	164;198;138	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	L	138;138;137;137;138;198;164	ENSP00000362192:F138L;ENSP00000362184:F138L;ENSP00000362168:F137L;ENSP00000396222:F137L;ENSP00000392795:F138L;ENSP00000340608:F198L;ENSP00000412214:F164L	ENSP00000340608:F198L	F	+	1	0	SGK2	41632722	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.860000	0.86993	2.148000	0.66965	0.533000	0.62120	TTC		0.627	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			C	42199308	T	C	42199308	3	2	39	1	0	0	0	0	1	0	0	0	14209	1725	60	2	614	2	SGK2	20	42199308	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	38529435	42199308	20826212	84	2875											
TMPRSS15	5651	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr21	19770214	19770214	+	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	actcaaattgtaaaactcttGagttcttatattcattcttc	12	18	3	8	0	5	1	2	1	3	0	6	1	5	1	0	0	1	2	0	0	5	9			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr21:19770214G>T	ENST00000284885.3	-	3	359	c.326C>A	c.(325-327)tCa>tAa	p.S109*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	109	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAAAACTCTTGAGTTCTTATA	0.244																																						.											0													16	17	17					21																	19770214		2136	4209	6345	SO:0001587	stop_gained	5651				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.326C>A	21.37:g.19770214G>T	ENSP00000284885:p.Ser109*		Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729406	0.96856	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	.	.	.	4.78	4.78	0.61160	.	0.078927	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4889	0.61382	0.0:0.0:1.0:0.0	.	.	.	.	X	109;64	.	.	S	-	2	0	TMPRSS15	18692085	1.000000	0.71417	0.914000	0.36105	0.985000	0.73830	2.024000	0.41049	2.625000	0.88918	0.643000	0.83706	TCA		0.244	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19770214	G	T	19770214	4	4	39	1	0	0	0	0	0	1	0	0	16243	1294	45	5	2825	5	TMPRSS15	21	19770214	Nonsense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10		19770214	28359681	85	2876											
OSM	5008	broad.mit.edu	37	chr22	30661055	30661055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctggagctggccaaggAgcacgcggtactctttcgag	7	9	14	11	3	2	0	0	0	2	0	3	3	2	2	1	4	3	4	1	4	2	3			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr22:30661055A>G	ENST00000215781.2	-	2	153	c.113T>C	c.(112-114)cTc>cCc	p.L38P	OSM_ENST00000403389.1_Missense_Mutation_p.L17P|OSM_ENST00000403463.1_Intron	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	38					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CTGGCCAAGGAGCACGCGGTA	0.577																																						.											0													143	132	136					22																	30661055		2203	4300	6503	SO:0001583	missense	5008			AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.113T>C	22.37:g.30661055A>G	ENSP00000215781:p.Leu38Pro		Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286191	0.59867	.	.	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.62941	-0.01	3.69	3.69	0.42338	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.33496	N	0.004844	T	0.66636	0.2809	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68800	-0.5313	10	0.87932	D	0	-31.3671	9.04	0.36311	1.0:0.0:0.0:0.0	.	38	P13725	ONCM_HUMAN	P	38;17	ENSP00000215781:L38P	ENSP00000215781:L38P	L	-	2	0	OSM	28991055	0.980000	0.34600	0.641000	0.29422	0.074000	0.17049	2.556000	0.45862	1.922000	0.55676	0.459000	0.35465	CTC		0.577	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530		G	30661055	A	G	30661055	3	3	39	1	0	0	0	0	1	0	0	0	11291	304	11	2	653	2	OSM	22	30661055	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		30661055	20643511	86	2877											
BRD1	23774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	50187922	50187922	+	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	gcccaggtgggctctgttggCggggtccagcaacctgtcca	5	8	15	13	1	1	0	0	0	1	0	3	0	3	0	4	5	2	3	4	5	1	1			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr22:50187922C>T	ENST00000216267.8	-	6	2605	c.2119G>A	c.(2119-2121)Gcc>Acc	p.A707T	BRD1_ENST00000342989.5_Missense_Mutation_p.A302T|BRD1_ENST00000542442.1_Missense_Mutation_p.A395T|BRD1_ENST00000404760.1_Missense_Mutation_p.A707T|BRD1_ENST00000457780.2_Missense_Mutation_p.A707T|BRD1_ENST00000404034.1_Missense_Mutation_p.A707T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	707					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)		GCTCTGTTGGCGGGGTCCAGC	0.602																																						.											0													59	64	62					22																	50187922		2203	4300	6503	SO:0001583	missense	23774			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.2119G>A	22.37:g.50187922C>T	ENSP00000216267:p.Ala707Thr		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002749	0.74932	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.27557	2.6;2.6;2.58;2.42;1.66;2.02	5.4	5.4	0.78164	.	0.098489	0.64402	D	0.000001	T	0.28699	0.0711	M	0.73598	2.24	0.58432	D	0.999998	P;P;P;P	0.46656	0.812;0.597;0.456;0.882	B;B;B;B	0.33799	0.082;0.048;0.082;0.17	T	0.13495	-1.0507	10	0.22706	T	0.39	.	12.5109	0.56005	0.0:0.9236:0.0:0.0764	.	707;302;707;707	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	707;707;707;707;395;302;167	ENSP00000216267:A707T;ENSP00000384076:A707T;ENSP00000385858:A707T;ENSP00000410042:A707T;ENSP00000437514:A395T;ENSP00000345886:A302T	ENSP00000216267:A707T	A	-	1	0	BRD1	48573926	1.000000	0.71417	0.988000	0.46212	0.981000	0.71138	5.876000	0.69667	2.524000	0.85096	0.655000	0.94253	GCC		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		T	50187922	C	T	50187922	3	4	39	1	0	0	0	0	1	0	0	0	1501	768	27	1	1085	1	BRD1	22	50187922	Missense_Mutation	SNP	C	TCGA-KN-8424-01A-11D-2310-10	19526867	50187922	1116644	87	2878											
SHROOM2	357	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	9905226	9905226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatggtgcccatcaagAtcgtgcactcggagagccag	11	7	13	10	2	1	4	1	1	0	3	3	5	1	4	2	2	3	1	2	2	2	0			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:9905226A>G	ENST00000380913.3	+	7	3730	c.3640A>G	c.(3640-3642)Atc>Gtc	p.I1214V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.I49V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1214					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)				GCCCATCAAGATCGTGCACTC	0.592																																						.											0													46	32	37					X																	9905226		2202	4298	6500	SO:0001583	missense	357			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.3640A>G	X.37:g.9905226A>G	ENSP00000370299:p.Ile1214Val		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075380	0.76415	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.58210	1.95;1.03;0.35	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	L	0.61218	1.895	0.49483	D	0.99979	D;D	0.67145	0.996;0.985	P;D	0.67548	0.878;0.952	T	0.65940	-0.6046	10	0.33940	T	0.23	-14.2064	14.0878	0.64971	1.0:0.0:0.0:0.0	.	49;1214	Q68DU3;Q13796	.;SHRM2_HUMAN	V	1214;49;49;49	ENSP00000370299:I1214V;ENSP00000415229:I49V;ENSP00000406724:I49V	ENSP00000370299:I1214V	I	+	1	0	SHROOM2	9865226	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	8.769000	0.91742	1.704000	0.51252	0.481000	0.45027	ATC		0.592	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		G	9905226	A	G	9905226	3	3	39	1	0	0	0	0	1	0	0	0	14294	333	12	4	3666	4	SHROOM2	23	9905226	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10		9905226	145365334	88	2879											
WWC3	55841	mdanderson.org	37	chrX	10085674	10085674	+	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	ccacacggggtccccggggaTggggaagggccgcacgagcg	7	2	19	13	5	0	0	0	0	0	0	1	3	1	2	4	7	1	1	4	7	1	0	rs6530368	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:10085674T>C	ENST00000380861.4	+	11	1966	c.1575T>C	c.(1573-1575)gaT>gaC	p.D525D	WWC3_ENST00000454666.1_Silent_p.D525D	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	525					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						TCCCCGGGGATGGGGAAGGGC	0.701													C|||	3621	0.959205	0.7572	0.7089	3775	,	,		10616	0.7579		0.663	False		,,,				2504	0.7127					.											0								C		3391,72		1436,59,460,0,13	6	6	6		1575	-8.5	0	X	dbSNP_116	6	5349,820		1737,497,1378,39,245	no	coding-synonymous	WWC3	NM_015691.3		3173,556,1838,39,258	CC,CT,C,TT,T		13.2923,2.0791,9.2608		525/1093	10085674	8740,892	1968	3896	5864	SO:0001819	synonymous_variant	55841			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.1575T>C	X.37:g.10085674T>C			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																				0.701	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		C	10085674	T	C	10085674	2	2	39	1	0	0	0	0	0	0	0	1	17410	1461	51	4		4	WWC3	23	10085674	Silent	SNP	T	TCGA-KN-8424-01A-11D-2310-10	180448	10085674	145184886	89	2880											
RPGR	6103	broad.mit.edu	37	chrX	38145385	38145385	+	Intron	DEL	T	T	-																															ctccttcctcctcttcccccTcccattctccttcctcctct																										TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:38145385delT	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Frame_Shift_Del_p.E956fs|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_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						ctcttccccctcccattctcc	0.617																																						.											0			GRCh37	CD070508	orf15	D							5	3	4					X																	38145385		1668	3072	4740	SO:0001627	intron_variant	6103			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+961A>-	X.37:g.38145385delT			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Del	DEL	ENST00000339363.3	37																																																																																					0.617	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		-	38145385	T	-	38145385	6	5	39	0	1	1	0	1	0	0	0	0	13548	1551	54	0		0	RPGR	23	38145385	Intron	DEL	T	TCGA-KN-8424-01A-11D-2310-10	28059711	38145385	117125175	90	2881											
SLC16A2	6567	mdanderson.org	37	chrX	73641569	73641569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtagcccagagccggagTctgagccggagcctgagccc	7	5	16	13	2	1	3	0	2	1	1	1	5	1	5	5	3	5	1	5	3	1	1	rs6647476		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:73641569T>C	ENST00000587091.1	+	1	274	c.97T>C	c.(97-99)Tct>Cct	p.S33P	SLC16A2_ENST00000276033.5_Missense_Mutation_p.S107P	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	33					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	Agagccggagtctgagccgga	0.741													C|||	2506	0.663841	0.531	0.3084	3775	,	,		5534	0.7361		0.333	False		,,,				2504	0.5245					.											0								-	PRO/SER	2247,1352		641,640,325,282,148	6	6	6	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	319		0.1	X	dbSNP_116	6	2383,4050		356,1012,659,1004,1030	yes	missense	SLC16A2	NM_006517.3	74	997,1652,984,1286,1178	CC,CT,C,TT,T		37.0434,37.566,46.1523	possibly-damaging	107/614	73641569	4630,5402	2036	4061	6097	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.97T>C	X.37:g.73641569T>C	ENSP00000465734:p.Ser33Pro		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	1048	0.6317058468957203	190	0.5828220858895705	71	0.2305194805194805	278	0.9586206896551724	182	0.3063973063973064	C	0.001	-3.547578	0.00009	0.62434	0.370434	ENSG00000147100	ENST00000276033	T	0.69306	-0.39	.	.	.	.	0.660363	0.13427	N	0.388737	T	0.00012	0.0000	N	0.00419	-1.52	0.80722	P	0.0	P	0.47604	0.898	B	0.42959	0.403	T	0.50651	-0.8803	7	0.18710	T	0.47	.	.	.	.	rs6647476	33	P36021	MOT8_HUMAN	P	107	ENSP00000276033:S107P	ENSP00000276033:S107P	S	+	1	0	SLC16A2	73558294	0.057000	0.20700	0.097000	0.21041	0.047000	0.14425	-0.390000	0.07332	-0.420000	0.07427	0.000000	0.15137	TCT		0.741	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			C	73641569	T	C	73641569	3	2	39	1	0	0	0	0	1	0	0	0	14408	1667	58	2	321	2	SLC16A2	23	73641569	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	35496184	73641569	81628991	91	2882											
BRS3	680	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	135570529	135570529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagttccaaatattttcAtcaccagcctggcttttgga	12	13	6	10	0	2	0	2	0	0	0	3	1	3	1	3	2	2	2	3	2	3	6			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:135570529A>G	ENST00000370648.3	+	1	484	c.256A>G	c.(256-258)Atc>Gtc	p.I86V	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	86					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)					AAATATTTTCATCACCAGCCT	0.418																																						.											0													151	134	139					X																	135570529		2203	4300	6503	SO:0001583	missense	680				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.256A>G	X.37:g.135570529A>G	ENSP00000359682:p.Ile86Val			Missense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935780	0.52972	.	.	ENSG00000102239	ENST00000370648	T	0.40225	1.04	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.60560	0.2278	M	0.67953	2.075	0.46564	D	0.999101	D	0.58620	0.983	P	0.62014	0.897	T	0.63795	-0.6556	10	0.62326	D	0.03	-16.6344	14.8936	0.70627	1.0:0.0:0.0:0.0	.	86	P32247	BRS3_HUMAN	V	86	ENSP00000359682:I86V	ENSP00000359682:I86V	I	+	1	0	BRS3	135398195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.040000	0.64191	1.899000	0.54978	0.486000	0.48141	ATC		0.418	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		G	135570529	A	G	135570529	3	3	39	1	0	0	0	0	1	0	0	0	1522	217	8	4	258	4	BRS3	23	135570529	Missense_Mutation	SNP	A	TCGA-KN-8424-01A-11D-2310-10	61928960	135570529	19700031	92	2883											
ABCD1	215	mdanderson.org	37	chrX	153008476	153008476	+	Missense_Mutation	SNP	T	T	C																															gtgactggaaggacgtcctgTcgggtggcgagaagcagaga																								rs201774661		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:153008476T>C	ENST00000218104.3	+	8	2215	c.1816T>C	c.(1816-1818)Tcg>Ccg	p.S606P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	606	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> L (in ALD; decreased ATP-binding affinity). {ECO:0000269|PubMed:8040304}.|S -> P (in ALD; CALD, AMN and ALMD- types). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498}.		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)	p.S606P(1)		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)					GGACGTCCTGTCGGGTGGCGA	0.657																																						.											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM960043	ABCD1	M																																				SO:0001583	missense	215			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.1816T>C	X.37:g.153008476T>C	ENSP00000218104:p.Ser606Pro		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307005	0.81247	.	.	ENSG00000101986	ENST00000218104	D	0.99957	-8.99	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000009	D	0.99964	0.9986	H	0.99357	4.53	0.80722	D	1	D	0.56521	0.976	P	0.59546	0.859	D	0.96145	0.9103	10	0.87932	D	0	-5.1669	13.4857	0.61364	0.0:0.0:0.0:1.0	.	606	P33897	ABCD1_HUMAN	P	606	ENSP00000218104:S606P	ENSP00000218104:S606P	S	+	1	0	ABCD1	152661670	1.000000	0.71417	0.058000	0.19502	0.765000	0.43378	5.967000	0.70403	1.827000	0.53221	0.350000	0.21858	TCG		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		C	153008476	T	C	153008476	3	2	39	1	0	0	0	0	1	0	0	0	60	1667	58	2	1846	2	ABCD1	23	153008476	Missense_Mutation	SNP	T	TCGA-KN-8424-01A-11D-2310-10	17437947	153008476	2262084	93	2884	83	2									
ABCD1	215	mdanderson.org	37	chrX	153008483	153008483	+	Missense_Mutation	SNP	G	G	A																															gaaggacgtcctgtcgggtgGcgagaagcagagaatcggca																								rs78993751		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:153008483G>A	ENST00000218104.3	+	8	2222	c.1823G>A	c.(1822-1824)gGc>gAc	p.G608D	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	608	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		G -> D (in ALD; CALD-type). {ECO:0000269|PubMed:11438993}.		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)					CTGTCGGGTGGCGAGAAGCAG	0.652																																						.											0			GRCh37	CM012040	ABCD1	M	rs78993751																																			SO:0001583	missense	215			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.1823G>A	X.37:g.153008483G>A	ENSP00000218104:p.Gly608Asp		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864716	0.91511	.	.	ENSG00000101986	ENST00000218104	D	0.99981	-10.31	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.99984	0.9995	H	0.98178	4.165	0.09310	P	1.0	D	0.89917	1.0	D	0.91635	0.999	D	0.99264	1.0891	9	0.87932	D	0	-31.6285	17.0243	0.86441	0.0:0.0:1.0:0.0	.	608	P33897	ABCD1_HUMAN	D	608	ENSP00000218104:G608D	ENSP00000218104:G608D	G	+	2	0	ABCD1	152661677	1.000000	0.71417	0.632000	0.29296	0.808000	0.45660	9.405000	0.97313	2.283000	0.76528	0.429000	0.28392	GGC		0.652	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		A	153008483	G	A	153008483	3	1	39	1	0	0	0	0	1	0	0	0	60	1203	42	3	1853	3	ABCD1	23	153008483	Missense_Mutation	SNP	G	TCGA-KN-8424-01A-11D-2310-10	7	153008483	2262077	94	2885	83	2									
RPL11	6135	hgsc.bcm.edu	37	chr1	24021261	24021261	+	Frame_Shift_Del	DEL	T	T	-																															atgacccaagcattggtatcTacggcctggacttctatgtg																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:24021261delT	ENST00000374550.3	+	4	421	c.376delT	c.(376-378)tacfs	p.Y126fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	126					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATTGGTATCTACGGCCTGGA	0.408																																						.											0													151	144	147					1																	24021261		2203	4300	6503	SO:0001589	frameshift_variant	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.376delT	1.37:g.24021261delT	ENSP00000363676:p.Tyr126fs		P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL	ENST00000374550.3	37	CCDS238.1																																																																																				0.408	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		-	24021261	T	-	24021261	7	5	40	1	0	1	0	1	0	0	0	0	13557	1522	53	0	390	0	RPL11	1	24021261	Frame_Shift_Del	DEL	T	TCGA-KN-8425-01A-11D-2310-10		24021261	225229360	1	2886	84	2									
RPL11	6135	bcgsc.ca	37	chr1	24021262	24021262	+	Frame_Shift_Del	DEL	T	T	-																															tgacccaagcattggtatctAcggcctggacttctatgtgg																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:24021262delT	ENST00000374550.3	+	4	422	c.377delT	c.(376-378)ttcfs	p.F126fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	126					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		ATTGGTATCTACGGCCTGGAC	0.408																																						.											0													149	142	145					1																	24021262		2203	4300	6503	SO:0001589	frameshift_variant	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.377delT	1.37:g.24021262delT	ENSP00000363676:p.Phe126fs		P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL	ENST00000374550.3	37	CCDS238.1																																																																																				0.408	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		-	24021262	T	-	24021262	7	5	40	1	0	1	0	1	0	0	0	0	13557	391	14	0	391	0	RPL11	1	24021262	Frame_Shift_Del	DEL	T	TCGA-KN-8425-01A-11D-2310-10	1	24021262	225229359	2	2887	84	2									
HRNR	388697	broad.mit.edu	37	chr1	152186038	152186038	+	Frame_Shift_Del	DEL	A	A	-																															tgaccaaagacagaagagtgAcccaagcgagactcatatgg																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:152186038delA	ENST00000368801.2	-	3	8142	c.8067delT	c.(8065-8067)ggtfs	p.G2689fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2689					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)			CAGAAGAGTGACCCAAGCGAG	0.577																																						.											0													29	26	27					1																	152186038		1971	3911	5882	SO:0001589	frameshift_variant	388697			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.8067delT	1.37:g.152186038delA	ENSP00000357791:p.Gly2689fs		Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	ENST00000368801.2	37	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		-	152186038	A	-	152186038	7	5	40	1	0	1	0	1	0	0	0	0	7359	262	10	0	489	0	HRNR	1	152186038	Frame_Shift_Del	DEL	A	TCGA-KN-8425-01A-11D-2310-10	128164776	152186038	97064583	3	2888	85	3									
HRNR	388697	broad.mit.edu	37	chr1	152186041	152186042	+	Frame_Shift_Ins	INS	-	-	GG																															caaagacagaagagtgacccINSaagcgagactcatatgggcc																								rs12751022|rs555234935	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:152186041_152186042insGG	ENST00000368801.2	-	3	8138_8139	c.8063_8064insCC	c.(8062-8064)ttgfs	p.L2688fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2688				L -> S (in Ref. 1; BAC57496). {ECO:0000305}.	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)	p.L2688S(1)|p.L2688F(1)		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)			AAGAGTGACCCAAGCGAGACTC	0.584																																						.											2	Substitution - Missense(2)	prostate(1)|lung(1)																																								SO:0001589	frameshift_variant	388697			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.8063_8064insCC	1.37:g.152186041_152186042insGG	ENSP00000357791:p.Leu2688fs		Q5DT20|Q5U1F4	Frame_Shift_Ins	INS	ENST00000368801.2	37	CCDS30859.1																																																																																				0.584	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		GG	152186042	-	GG	152186041	7	5	40	1	0	1	1	0	0	0	0	0	7359	593	21	0	492	0	HRNR	1	152186041	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	3	152186041	97064580	4	2889	85	3									
HRNR	388697	broad.mit.edu	37	chr1	152186047	152186047	+	Frame_Shift_Del	DEL	A	A	-																															acagaagagtgacccaagcgAgactcatatgggccacggct																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:152186047delA	ENST00000368801.2	-	3	8133	c.8058delT	c.(8056-8058)tctfs	p.S2686fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2686					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)			GACCCAAGCGAGACTCATATG	0.587																																						.											0													27	24	25					1																	152186047		1883	3790	5673	SO:0001589	frameshift_variant	388697			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.8058delT	1.37:g.152186047delA	ENSP00000357791:p.Ser2686fs		Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	ENST00000368801.2	37	CCDS30859.1																																																																																				0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		-	152186047	A	-	152186047	7	5	40	1	0	1	0	1	0	0	0	0	7359	291	11	0	498	0	HRNR	1	152186047	Frame_Shift_Del	DEL	A	TCGA-KN-8425-01A-11D-2310-10	6	152186047	97064574	5	2890	85	3									
TGFB2	7042	bcgsc.ca	37	chr1	218520179	218520179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatccgcgggcagatcctgAgcaagctgaagctcaccagt	10	6	12	13	3	1	3	1	2	0	1	3	4	3	3	3	1	3	4	3	1	2	0			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr1:218520179A>G	ENST00000366930.4	+	1	603	c.136A>G	c.(136-138)Agc>Ggc	p.S46G	RP11-224O19.2_ENST00000414452.1_RNA|TGFB2_ENST00000366929.4_Missense_Mutation_p.S46G	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	46					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCAGATCCTGAGCAAGCTGAA	0.592																																						.											0													79	81	80					1																	218520179		2203	4300	6503	SO:0001583	missense	7042			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.136A>G	1.37:g.218520179A>G	ENSP00000355897:p.Ser46Gly		B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	A	32	5.138115	0.94560	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.69806	-0.43;-0.43	5.98	5.98	0.97165	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	0.991;0.999;1.0	D;D;D	0.79108	0.951;0.986;0.992	D	0.86378	0.1727	10	0.87932	D	0	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	46;46;47	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	G	46	ENSP00000355897:S46G;ENSP00000355896:S46G	ENSP00000355896:S46G	S	+	1	0	TGFB2	216586802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.305000	0.96197	2.288000	0.76882	0.482000	0.46254	AGC		0.592	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		G	218520179	A	G	218520179	3	3	40	1	0	0	0	0	1	0	0	0	15815	304	11	2	138	2	TGFB2	1	218520179	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	66334132	218520179	30730442	6	2891											
PLB1	151056	bcgsc.ca	37	chr2	28812354	28812354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgagagtgggcgatatgAcacaagggaagattttactg	13	10	14	4	1	0	3	0	2	0	2	0	7	0	4	0	2	1	0	0	2	4	4			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr2:28812354A>G	ENST00000327757.5	+	27	1897	c.1853A>G	c.(1852-1854)gAc>gGc	p.D618G	PLB1_ENST00000329020.6_Missense_Mutation_p.D306G|PLB1_ENST00000422425.2_Missense_Mutation_p.D607G	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	618	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GGGCGATATGACACAAGGGAA	0.478																																						.											0													132	116	122					2																	28812354		2203	4300	6503	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1853A>G	2.37:g.28812354A>G	ENSP00000330442:p.Asp618Gly		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.33|17.33	3.363343|3.363343	0.61513|0.61513	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020|ENST00000404858	T;T;T;T|.	0.55930|.	0.49;0.49;0.49;0.49|.	5.99|5.99	5.99|5.99	0.97316|0.97316	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78521|0.78521	0.4296|0.4296	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.89917|.	0.997;1.0;0.963;0.745|.	D;D;P;P|.	0.91635|.	0.98;0.999;0.779;0.74|.	T|T	0.80881|0.80881	-0.1184|-0.1184	10|5	0.33141|.	T|.	0.24|.	-35.3349|-35.3349	14.0175|14.0175	0.64533|0.64533	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	607;618;306;618|.	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6|.	.;.;.;PLB1_HUMAN|.	G|A	618;607;328;306|606	ENSP00000330442:D618G;ENSP00000416440:D607G;ENSP00000392493:D328G;ENSP00000330729:D306G|.	ENSP00000330442:D618G|.	D|T	+|+	2|1	0|0	PLB1|PLB1	28665858|28665858	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.075000|0.075000	0.17131|0.17131	7.863000|7.863000	0.87023|0.87023	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.478	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			G	28812354	A	G	28812354	3	3	40	1	0	0	0	0	1	0	0	0	12024	275	10	2	1992	2	PLB1	2	28812354	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10		28812354	214387019	7	2892											
PSD4	23550	broad.mit.edu	37	chr2	113940985	113940985	+	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	ctatcagtgggcattgtaccCctccattccctgtgcccatc	6	12	7	16	0	1	0	1	0	0	0	4	0	3	0	5	1	2	2	5	1	2	4	rs148062987	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr2:113940985C>T	ENST00000245796.6	+	2	1147	c.952C>T	c.(952-954)Cct>Tct	p.P318S	PSD4_ENST00000441564.3_Missense_Mutation_p.P318S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	318					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						GCATTGTACCCCTCCATTCCC	0.617																																						.											0													61	52	55					2																	113940985		2203	4300	6503	SO:0001583	missense	23550			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.952C>T	2.37:g.113940985C>T	ENSP00000245796:p.Pro318Ser		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488476	0.84854	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.12465	2.78;2.68	5.83	5.83	0.93111	.	0.655300	0.14825	N	0.296217	T	0.27765	0.0683	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.984	T	0.00373	-1.1781	9	.	.	.	.	15.6209	0.76805	0.0:1.0:0.0:0.0	.	318;318	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	S	318	ENSP00000245796:P318S;ENSP00000413997:P318S	.	P	+	1	0	PSD4	113657456	0.253000	0.23982	0.287000	0.24848	0.340000	0.28889	2.065000	0.41442	2.758000	0.94735	0.655000	0.94253	CCT		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113940985	C	T	113940985	3	4	40	1	0	0	0	0	1	0	0	0	12649	623	22	3	954	3	PSD4	2	113940985	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	85128631	113940985	129258388	8	2893											
SLC16A14	151473	bcgsc.ca	37	chr2	230911292	230911292	+	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	attcctccagccgtactctgCgcacaggtacttcagcagca	9	9	8	15	2	2	0	1	0	1	0	4	0	4	0	3	1	6	5	3	1	2	4	rs62191755	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr2:230911292C>A	ENST00000295190.4	-	4	1008	c.550G>T	c.(550-552)Gca>Tca	p.A184S		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCGTACTCTGCGCACAGGTAC	0.572													C|||	45	0.00898562	0.003	0.0144	5008	,	,		19289	0		0.0258	False		,,,				2504	0.0051					.											0								C	SER/ALA	17,4389	24.3+/-50.5	0,17,2186	92	90	91		550	0.5	0.3	2	dbSNP_129	91	200,8400	87.1+/-149.5	1,198,4101	yes	missense	SLC16A14	NM_152527.4	99	1,215,6287	AA,AC,CC		2.3256,0.3858,1.6685	benign	184/511	230911292	217,12789	2203	4300	6503	SO:0001583	missense	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.550G>T	2.37:g.230911292C>A	ENSP00000295190:p.Ala184Ser		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	CCDS2473.1	29	0.013278388278388278	4	0.008130081300813009	5	0.013812154696132596	0	0.0	20	0.026385224274406333	C	5.596	0.294816	0.10567	0.003858	0.023256	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.55930	0.49;0.49;0.49	4.94	0.515	0.17013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.712084	0.13251	N	0.402103	T	0.09730	0.0239	N	0.12422	0.21	0.09310	N	1	B;B	0.18310	0.027;0.027	B;B	0.24394	0.026;0.053	T	0.09751	-1.0660	10	0.23891	T	0.37	.	0.7198	0.00938	0.4247:0.2031:0.1266:0.2456	rs62191755	184;184	E7EMG7;Q7RTX9	.;MOT14_HUMAN	S	184	ENSP00000295190:A184S;ENSP00000400352:A184S;ENSP00000395775:A184S	ENSP00000295190:A184S	A	-	1	0	SLC16A14	230619536	0.007000	0.16637	0.290000	0.24890	0.940000	0.58332	0.271000	0.18626	0.229000	0.21039	0.655000	0.94253	GCA		0.572	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		A	230911292	C	A	230911292	3	1	40	1	0	0	0	0	1	0	0	0	14407	768	27	5	990	5	SLC16A14	2	230911292	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	116970307	230911292	12288081	9	2894											
DOCK3	1795	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	51251628	51251628	+	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	aaatcccatgatatttaataGgggattggcaattacaagaa	17	11	8	5	0	0	2	0	1	0	1	1	3	1	3	1	3	1	1	1	3	8	6			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr3:51251628G>A	ENST00000266037.9	+	14	1225	c.1202G>A	c.(1201-1203)aGg>aAg	p.R401K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	401					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)		ATATTTAATAGGGGATTGGCA	0.413																																						.											0													80	77	78					3																	51251628		1864	4117	5981	SO:0001583	missense	1795			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.1202G>A	3.37:g.51251628G>A	ENSP00000266037:p.Arg401Lys		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633166	0.67015	.	.	ENSG00000088538	ENST00000266037	T	0.05382	3.45	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.47716	1.5	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.29366	-1.0014	10	0.11485	T	0.65	.	19.4352	0.94788	0.0:0.0:1.0:0.0	.	401	Q8IZD9	DOCK3_HUMAN	K	401	ENSP00000266037:R401K	ENSP00000266037:R401K	R	+	2	0	DOCK3	51226668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	2.668000	0.90789	0.655000	0.94253	AGG		0.413	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51251628	G	A	51251628	3	1	40	1	0	0	0	0	1	0	0	0	4688	1000	35	4	1256	4	DOCK3	3	51251628	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		51251628	146770802	10	2895											
CNTN3	5067	broad.mit.edu	37	chr3	74570232	74570232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaagcagccaatgaatgaaAgcaggatcaactgtttccat	15	9	8	9	0	1	2	1	2	0	0	2	3	2	3	2	1	4	3	2	1	5	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr3:74570232A>G	ENST00000263665.6	-	1	59	c.32T>C	c.(31-33)cTt>cCt	p.L11P		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	11					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)		AATGAATGAAAGCAGGATCAA	0.343																																						.											0													82	82	82					3																	74570232		2203	4299	6502	SO:0001583	missense	5067			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.32T>C	3.37:g.74570232A>G	ENSP00000263665:p.Leu11Pro		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	8.229	0.804189	0.16467	.	.	ENSG00000113805	ENST00000263665	T	0.61859	0.07	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000021	T	0.55000	0.1893	M	0.68317	2.08	0.50632	D	0.999886	B	0.22480	0.07	B	0.18871	0.023	T	0.56238	-0.8012	10	0.52906	T	0.07	.	11.4879	0.50365	1.0:0.0:0.0:0.0	.	11	Q9P232	CNTN3_HUMAN	P	11	ENSP00000263665:L11P	ENSP00000263665:L11P	L	-	2	0	CNTN3	74652922	1.000000	0.71417	0.963000	0.40424	0.310000	0.27922	5.285000	0.65633	1.969000	0.57287	0.477000	0.44152	CTT		0.343	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		G	74570232	A	G	74570232	3	3	40	1	0	0	0	0	1	0	0	0	3642	72	3	2	3142	2	CNTN3	3	74570232	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	23318604	74570232	123452198	11	2896											
ZBTB20	26137	broad.mit.edu	37	chr3	114070436	114070436	+	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	gcttccgactgcgagacccgTagcacgccgctgtacatgaa	9	7	11	14	5	0	2	0	1	0	1	1	4	1	2	3	0	3	5	3	0	3	3			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr3:114070436T>C	ENST00000474710.1	-	4	667	c.489A>G	c.(487-489)ctA>ctG	p.L163L	ZBTB20_ENST00000481632.1_Silent_p.L90L|ZBTB20_ENST00000464560.1_Silent_p.L90L|ZBTB20_ENST00000357258.3_Silent_p.L90L|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.L90L|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.L90L|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.L90L	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	163	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCGAGACCCGTAGCACGCCGC	0.567																																					NSCLC(69;748 1344 9802 11203 30933)	.											0													81	69	73					3																	114070436		2203	4300	6503	SO:0001819	synonymous_variant	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.489A>G	3.37:g.114070436T>C			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	CCDS54626.1																																																																																				0.567	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		C	114070436	T	C	114070436	2	2	40	1	0	0	0	0	0	0	0	1	17526	1625	57	2		2	ZBTB20	3	114070436	Silent	SNP	T	TCGA-KN-8425-01A-11D-2310-10	39500204	114070436	83951994	12	2897											
ARHGAP24	83478	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	86863259	86863259	+	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	gaggatactgttcgttatgaGaagagatatgggaaccgtct	12	11	13	5	2	1	2	0	1	1	2	2	7	1	4	1	2	2	2	1	2	5	4			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr4:86863259G>T	ENST00000395184.1	+	5	898	c.432G>T	c.(430-432)gaG>gaT	p.E144D	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E49D|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E51D|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.E144D	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	144	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)		TTCGTTATGAGAAGAGATATG	0.448																																						.											0													86	84	85					4																	86863259		2203	4300	6503	SO:0001583	missense	83478			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.432G>T	4.37:g.86863259G>T	ENSP00000378611:p.Glu144Asp		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229271	0.58777	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.98	4.24	0.50183	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.51853	1.615	0.54753	D	0.999982	D;P;P;P	0.69078	0.997;0.931;0.849;0.694	D;P;B;P	0.66497	0.944;0.857;0.271;0.683	T	0.51639	-0.8680	10	0.41790	T	0.15	.	12.9494	0.58391	0.1326:0.0:0.8674:0.0	.	49;51;144;144	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	D	144;144;49;49;18;59;51	ENSP00000378611:E144D;ENSP00000423206:E144D;ENSP00000426105:E49D;ENSP00000378610:E49D;ENSP00000424256:E18D;ENSP00000425589:E59D;ENSP00000264343:E51D	ENSP00000264343:E51D	E	+	3	2	ARHGAP24	87082283	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.880000	0.39628	0.841000	0.35020	0.650000	0.86243	GAG		0.448	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		T	86863259	G	T	86863259	3	4	40	1	0	0	0	0	1	0	0	0	873	933	33	5	562	5	ARHGAP24	4	86863259	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		86863259	104291017	13	2898											
AFF1	4299	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	87967367	87967367	+	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	gaattagagagaaggaaagaCgcaaccaggaagcccaccaa	19	2	11	9	1	0	3	0	0	0	3	0	7	0	5	3	2	2	1	3	2	7	1			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr4:87967367C>T	ENST00000307808.6	+	2	487	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.R30C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	23					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GAAGGAAAGACGCAACCAGGA	0.403																																						.											0													110	109	109					4																	87967367		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.67C>T	4.37:g.87967367C>T	ENSP00000305689:p.Arg23Cys		B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984267	0.74474	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.84683	2.71	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;0.999;0.999;0.999;0.999	D	0.90059	0.4155	10	0.87932	D	0	-27.6095	15.5699	0.76326	0.2016:0.7984:0.0:0.0	.	30;30;23;23;30	E9PBM3;B4DXZ8;Q14C88;P51825;B4DTU1	.;.;.;AFF1_HUMAN;.	C	30;30;30;30;23	ENSP00000378578:R30C;ENSP00000427593:R30C;ENSP00000424483:R30C;ENSP00000305689:R23C	ENSP00000305689:R23C	R	+	1	0	AFF1	88186391	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.919000	0.40015	2.854000	0.98071	0.655000	0.94253	CGC		0.403	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		T	87967367	C	T	87967367	3	4	40	1	0	0	0	0	1	0	0	0	356	536	19	1	115	1	AFF1	4	87967367	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	1104108	87967367	103186909	14	2899											
IRF2	3660	broad.mit.edu	37	chr4	185339717	185339717	+	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	ggccgttctgataggggcagCattcggtagaccctgaaggc	8	8	15	10	2	1	3	0	2	1	1	2	3	1	3	2	5	1	4	2	5	3	4			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr4:185339717C>A	ENST00000393593.3	-	4	540	c.333G>T	c.(331-333)atG>atT	p.M111I	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	111					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATAGGGGCAGCATTCGGTAGA	0.403																																						.											0													152	145	148					4																	185339717		2203	4300	6503	SO:0001583	missense	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.333G>T	4.37:g.185339717C>A	ENSP00000377218:p.Met111Ile		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.378734|4.378734	0.82682|0.82682	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000505067|ENST00000393593;ENST00000502750;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	.|D;D;D;D;D	.|0.97404	.|-4.37;-1.52;-4.37;-4.37;-4.37	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	.|0.073994	.|0.85682	.|D	.|0.000000	D|D	0.97096|0.97096	0.9051|0.9051	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.70487	.|0.969	D|D	0.97237|0.97237	0.9888|0.9888	5|10	.|0.48119	.|T	.|0.1	-13.3126|-13.3126	18.7969|18.7969	0.91997|0.91997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|111	.|P14316	.|IRF2_HUMAN	S|I	10|111;23;111;111;111;111	.|ENSP00000377218:M111I;ENSP00000423074:M23I;ENSP00000427204:M111I;ENSP00000424552:M111I;ENSP00000422860:M111I	.|ENSP00000377218:M111I	A|M	-|-	1|3	0|0	IRF2|IRF2	185576711|185576711	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.692000|0.692000	0.40212|0.40212	7.600000|7.600000	0.82769|0.82769	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GCT|ATG		0.403	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			A	185339717	C	A	185339717	3	1	40	1	0	0	0	0	1	0	0	0	7828	710	25	5	740	5	IRF2	4	185339717	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	97372350	185339717	5814559	15	2900											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881393	33881393	+	Missense_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	aaagaaatccttgattgaccGtcaagttaaaaaacaggtcc	17	9	7	8	1	1	3	1	2	0	1	3	3	3	3	3	1	1	1	3	1	6	3	rs201373627		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr5:33881393G>A	ENST00000504830.1	-	2	655	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.T107M|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T107M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	107					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						TTGATTGACCGTCAAGTTAAA	0.478										HNSCC(64;0.19)			G|||	1	0.000199681	0	0	5008	,	,		20736	0.001		0	False		,,,				2504	0					.											0								G	MET/THR	0,4406		0,0,2203	125	120	121		320	5.7	1	5		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS12	NM_030955.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	107/1595	33881393	1,13005	2203	4300	6503	SO:0001583	missense	81792			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.320C>T	5.37:g.33881393G>A	ENSP00000422554:p.Thr107Met		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556990	0.65425	0.0	1.16E-4	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.06608	3.28;3.28;3.28	5.65	5.65	0.86999	Peptidase M12B, propeptide (1);	0.059724	0.64402	D	0.000004	T	0.27967	0.0689	M	0.73598	2.24	0.35388	D	0.79053	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.963;0.991;0.982	T	0.11060	-1.0603	10	0.87932	D	0	.	19.734	0.96193	0.0:0.0:1.0:0.0	.	107;107;107	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	M	107	ENSP00000422554:T107M;ENSP00000344847:T107M;ENSP00000421638:T107M	ENSP00000344847:T107M	T	-	2	0	ADAMTS12	33917150	1.000000	0.71417	0.952000	0.39060	0.737000	0.42083	5.157000	0.64911	2.670000	0.90874	0.467000	0.42956	ACG		0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33881393	G	A	33881393	3	1	40	1	0	0	0	0	1	0	0	0	257	1145	40	1	4556	1	ADAMTS12	5	33881393	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		33881393	147033867	16	2901											
ZNF391	346157	broad.mit.edu	37	chr6	27368216	27368216	+	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	aagactataaaaacgaaggcCaattatcaaggcaaacaaaa	23	5	6	7	1	1	1	1	0	0	1	1	2	1	1	1	2	2	1	1	2	12	3			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:27368216C>T	ENST00000244576.4	+	3	612	c.67C>T	c.(67-69)Caa>Taa	p.Q23*		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	23					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						AAACGAAGGCCAATTATCAAG	0.413																																						.											0													110	101	104					6																	27368216		1852	4099	5951	SO:0001587	stop_gained	346157			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.67C>T	6.37:g.27368216C>T	ENSP00000244576:p.Gln23*		B4DH77	Nonsense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889974	0.33348	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	.	.	.	3.74	0.479	0.16796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	5.7265	0.18017	0.3487:0.5442:0.0:0.1071	.	.	.	.	X	23	.	ENSP00000244576:Q23X	Q	+	1	0	ZNF391	27476195	0.165000	0.22948	0.002000	0.10522	0.010000	0.07245	0.746000	0.26275	0.246000	0.21394	0.655000	0.94253	CAA		0.413	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		T	27368216	C	T	27368216	4	4	40	1	0	0	0	0	0	1	0	0	17876	595	21	4	69	4	ZNF391	6	27368216	Nonsense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10		27368216	143746851	17	2902											
HLA-A	3105	mdanderson.org	37	chr6	29912333	29912333	+	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	tcattgctggcctggttctcCttggagctgtgatcactgga	5	14	12	10	0	3	1	2	1	1	0	4	3	3	3	2	4	2	3	2	4	0	3	rs3179982	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:29912333C>T	ENST00000396634.1	+	7	1293	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	HLA-A_ENST00000376809.5_Missense_Mutation_p.L318F|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.L318F			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	318					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						CCTGGTTCTCCTTGGAGCTGT	0.592									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)			c|||	2681	0.535343	0.6044	0.6023	5008	,	,		19739	0.4881		0.5229	False		,,,				2504	0.456					.											0								C	PHE/LEU	1582,1436		428,726,355	109	103	105		952	-1	0	6	dbSNP_105	105	2518,2900		666,1186,857	no	missense	HLA-A	NM_002116.7	22	1094,1912,1212	TT,TC,CC		46.4747,47.5812,48.6012	probably-damaging	318/366	29912333	4100,4336	1509	2709	4218	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	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.952C>T	6.37:g.29912333C>T	ENSP00000379873:p.Leu318Phe		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	1165	0.5334249084249084	307	0.6239837398373984	196	0.5414364640883977	273	0.4772727272727273	389	0.5131926121372031	.	3.888	-0.024559	0.07589	0.524188	0.464747	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00995	5.49;5.46;5.49	3.13	-0.987	0.10249	.	0.308416	0.17061	U	0.188566	T	0.01353	0.0044	.	.	.	0.80722	P	0.0	B;B;D;B;B	0.71674	0.0;0.0;0.998;0.0;0.0	B;B;D;B;B	0.81914	0.001;0.004;0.995;0.004;0.001	T	0.47222	-0.9134	8	0.87932	D	0	.	6.4125	0.21698	0.0:0.4707:0.0:0.5293	rs3179982;rs3205680;rs17405339;rs17851725;rs41552629	197;318;318;318;318	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	F	318	ENSP00000379873:L318F;ENSP00000366002:L318F;ENSP00000366005:L318F	ENSP00000366002:L318F	L	+	1	0	HLA-A	30020312	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-2.297000	0.01141	-0.224000	0.09928	-0.330000	0.08379	CTT		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		T	29912333	C	T	29912333	3	4	40	1	0	0	0	0	1	0	0	0	7195	681	24	4	970	4	HLA-A	6	29912333	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	2544117	29912333	141202734	18	2903											
HLA-B	3106	mdanderson.org	37	chr6	31323262	31323262	+	Missense_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	agtttggtcctcgccatcccGctgccaggtcagtgtgatct	5	12	11	13	2	2	1	1	1	1	0	5	1	4	1	4	2	1	2	4	2	0	1	rs77665001	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:31323262G>A	ENST00000412585.2	-	4	755	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	243	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCGCCATCCCGCTGCCAGGTC	0.597									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0													95	88	90					6																	31323262		2203	4300	6503	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.727C>T	6.37:g.31323262G>A	ENSP00000399168:p.Arg243Trp		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	133	0.060897435897435896	29	0.05894308943089431	17	0.04696132596685083	44	0.07692307692307693	43	0.05672823218997362	N	11.80	1.747791	0.30955	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.03181	4.02	3.16	-0.095	0.13643	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.232653	0.21556	U	0.072641	T	0.01661	0.0053	M	0.80183	2.485	0.22989	N	0.998462	B	0.23540	0.087	B	0.14023	0.01	T	0.36504	-0.9745	10	0.72032	D	0.01	.	2.5362	0.04715	0.2793:0.0:0.3821:0.3386	.	243	P01889	1B07_HUMAN	W	243;122;122	ENSP00000399168:R243W	ENSP00000399168:R243W	R	-	1	2	HLA-B	31431241	0.022000	0.18835	0.712000	0.30502	0.703000	0.40648	0.052000	0.14163	0.183000	0.20059	0.442000	0.29010	CGG		0.597	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31323262	G	A	31323262	3	1	40	1	0	0	0	0	1	0	0	0	7196	1086	38	1	377	1	HLA-B	6	31323262	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	1410929	31323262	139791805	19	2904											
GLP1R	2740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	39040661	39040661	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcactgcaccaggaactAcatccacctgaacctgtttg	10	9	7	15	0	0	1	0	1	0	0	1	2	1	2	5	1	5	3	5	1	3	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:39040661A>G	ENST00000373256.4	+	6	576	c.533A>G	c.(532-534)tAc>tGc	p.Y178C		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	178					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	ACCAGGAACTACATCCACCTG	0.557																																						.											0													210	167	181					6																	39040661		2203	4300	6503	SO:0001583	missense	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.533A>G	6.37:g.39040661A>G	ENSP00000362353:p.Tyr178Cys		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804534	0.70682	.	.	ENSG00000112164	ENST00000373256	T	0.39406	1.08	5.56	3.08	0.35506	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000024	T	0.58481	0.2125	M	0.91717	3.235	0.52099	D	0.999945	D	0.89917	1.0	D	0.91635	0.999	T	0.64360	-0.6426	10	0.72032	D	0.01	.	8.7911	0.34852	0.7396:0.1333:0.0:0.127	.	178	P43220	GLP1R_HUMAN	C	178	ENSP00000362353:Y178C	ENSP00000362353:Y178C	Y	+	2	0	GLP1R	39148639	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.310000	0.96267	0.363000	0.24346	-0.333000	0.08304	TAC		0.557	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			G	39040661	A	G	39040661	3	3	40	1	0	0	0	0	1	0	0	0	6452	391	14	2	555	2	GLP1R	6	39040661	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	7717399	39040661	132074406	20	2905											
PHF3	23469	ucsc.edu;bcgsc.ca	37	chr6	64419126	64419126	+	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	tgtggaaaaaataaaagcatCaggaaccaaggtgaggaaaa	21	5	11	4	0	1	1	1	1	0	0	1	4	1	4	1	4	2	1	1	4	9	1			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:64419126C>T	ENST00000262043.3	+	14	4131	c.3791C>T	c.(3790-3792)tCa>tTa	p.S1264L	PHF3_ENST00000393387.1_Missense_Mutation_p.S1264L			Q92576	PHF3_HUMAN	PHD finger protein 3	1264					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)			ATAAAAGCATCAGGAACCAAG	0.358																																					GBM(135;136 1820 29512 34071 46235)	.											0													155	165	162					6																	64419126		2203	4300	6503	SO:0001583	missense	23469			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.3791C>T	6.37:g.64419126C>T	ENSP00000262043:p.Ser1264Leu		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.528384|5.528384	0.96446|0.96446	.|.	.|.	ENSG00000118482|ENSG00000118482	ENST00000505138|ENST00000515594;ENST00000262043;ENST00000393387	.|T;T;T	.|0.56103	.|0.48;1.79;1.79	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Spen paralogue and orthologue SPOC, C-terminal (1);	.|0.000000	.|0.32608	.|N	.|0.005877	.|T	.|0.70011	.|0.3175	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.66822	.|-0.5826	.|9	.|.	.|.	.|.	-14.8658|-14.8658	20.547|20.547	0.99278|0.99278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1264	.|Q92576	.|PHF3_HUMAN	X|L	53|533;1264;1264	.|ENSP00000425338:S533L;ENSP00000262043:S1264L;ENSP00000377048:S1264L	.|.	Q|S	+|+	1|2	0|0	PHF3|PHF3	64477085|64477085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.493000|7.493000	0.81493|0.81493	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			T	64419126	C	T	64419126	3	4	40	1	0	0	0	0	1	0	0	0	11836	838	29	4	3841	4	PHF3	6	64419126	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	25378465	64419126	106695941	21	2906											
GJA10	84694	hgsc.bcm.edu;bcgsc.ca	37	chr6	90605153	90605153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaatgggaaaaaggactgGtctgagaaggatcagcatag	15	7	13	6	0	2	1	1	1	1	1	3	5	3	4	1	4	1	1	1	4	5	1			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:90605153G>T	ENST00000369352.1	+	1	966	c.966G>T	c.(964-966)tgG>tgT	p.W322C	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	4					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AAAAGGACTGGTCTGAGAAGG	0.507																																						.											0													76	72	74					6																	90605153		2203	4300	6503	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.966G>T	6.37:g.90605153G>T	ENSP00000358358:p.Trp322Cys		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.205059	0.06180	.	.	ENSG00000135355	ENST00000369352	D	0.98901	-5.22	5.6	1.7	0.24286	.	0.962270	0.08562	N	0.927439	D	0.93706	0.7989	M	0.63843	1.955	0.19775	N	0.999951	B	0.15719	0.014	B	0.12156	0.007	D	0.87229	0.2259	10	0.37606	T	0.19	.	2.2376	0.04012	0.1489:0.1316:0.4486:0.2708	.	322	Q969M2	CXA10_HUMAN	C	322	ENSP00000358358:W322C	ENSP00000358358:W322C	W	+	3	0	GJA10	90661874	0.002000	0.14202	0.015000	0.15790	0.237000	0.25408	0.550000	0.23345	0.276000	0.22118	0.563000	0.77884	TGG		0.507	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		T	90605153	G	T	90605153	3	4	40	1	0	0	0	0	1	0	0	0	6401	1270	44	5	968	5	GJA10	6	90605153	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	26186027	90605153	80509914	22	2907											
CDC40	51362	broad.mit.edu	37	chr6	110528751	110528751	+	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	agataatcatcaagtgtctgCtaaatatattggttctgtag	13	15	8	5	0	4	1	2	0	2	1	4	1	4	1	0	1	1	3	0	1	7	7			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:110528751C>A	ENST00000368932.1	+	5	550	c.449C>A	c.(448-450)gCt>gAt	p.A150D	CDC40_ENST00000368930.1_Missense_Mutation_p.A150D|CDC40_ENST00000307731.1_Missense_Mutation_p.A150D			O60508	PRP17_HUMAN	cell division cycle 40	150					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.A150D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CAAGTGTCTGCTAAATATATT	0.269																																						.											1	Substitution - Missense(1)	kidney(1)											94	106	102					6																	110528751		2201	4290	6491	SO:0001583	missense	51362			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.449C>A	6.37:g.110528751C>A	ENSP00000357928:p.Ala150Asp		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	CCDS5081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.60|12.60	1.987752|1.987752	0.35036|0.35036	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165;ENST00000453107|ENST00000431461	T;T;T;T|.	0.60920|.	0.28;0.15;0.15;0.28|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.360512|.	0.35349|.	N|.	0.003280|.	T|.	0.30230|.	0.0758|.	N|N	0.03608|0.03608	-0.345|-0.345	0.45046|0.45046	D|D	0.998061|0.998061	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.35475|.	-0.9787|.	10|.	0.10636|.	T|.	0.68|.	-15.4556|-15.4556	20.1739|20.1739	0.98173|0.98173	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150|.	O60508|.	PRP17_HUMAN|.	D|X	150;150;150;150;150;47|42	ENSP00000357928:A150D;ENSP00000357929:A150D;ENSP00000357926:A150D;ENSP00000304370:A150D|.	ENSP00000304370:A150D|.	A|C	+|+	2|3	0|2	CDC40|CDC40	110635444|110635444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.478000|5.478000	0.66806|0.66806	2.774000|2.774000	0.95407|0.95407	0.585000|0.585000	0.79938|0.79938	GCT|TGC		0.269	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		A	110528751	C	A	110528751	3	1	40	1	0	0	0	0	1	0	0	0	3070	797	28	5	463	5	CDC40	6	110528751	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	19923598	110528751	60586316	23	2908											
FAM184A	79632	broad.mit.edu	37	chr6	119281278	119281278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaattctttcagaatgtgAagtaccgggcaaaccactcc	13	9	7	12	1	2	2	1	1	1	1	3	2	3	2	3	1	2	2	3	1	5	3			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:119281278A>G	ENST00000338891.7	-	18	3856	c.3413T>C	c.(3412-3414)tTc>tCc	p.F1138S	FAM184A_ENST00000368475.4_Missense_Mutation_p.F934S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.F1054S|FAM184A_ENST00000352896.5_Missense_Mutation_p.F969S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1138						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCAGAATGTGAAGTACCGGGC	0.428																																						.											0													61	64	63					6																	119281278		1879	4089	5968	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3413T>C	6.37:g.119281278A>G	ENSP00000342604:p.Phe1138Ser		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.275019|4.275019	0.80580|0.80580	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000368472;ENST00000521531|ENST00000481884	T;T;T;T;T|.	0.70164|.	0.23;0.32;-0.08;-0.46;-0.34|.	5.39|5.39	4.24|4.24	0.50183|0.50183	.|.	0.062472|.	0.64402|.	N|.	0.000003|.	T|T	0.60143|0.60143	0.2246|0.2246	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.83275|.	0.994;0.994;0.996|.	T|T	0.61715|0.61715	-0.7006|-0.7006	10|5	0.87932|.	D|.	0|.	-8.2841|-8.2841	11.3459|11.3459	0.49561|0.49561	0.9286:0.0:0.0714:0.0|0.9286:0.0:0.0714:0.0	.|.	1054;969;1138|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	S|P	266;1138;969;934;163;1054|72	ENSP00000342604:F1138S;ENSP00000326608:F969S;ENSP00000357460:F934S;ENSP00000357457:F163S;ENSP00000430442:F1054S|.	ENSP00000342604:F1138S|.	F|S	-|-	2|1	0|0	FAM184A|FAM184A	119322977|119322977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	9.029000|9.029000	0.93718|0.93718	0.989000|0.989000	0.38761|0.38761	0.455000|0.455000	0.32223|0.32223	TTC|TCA		0.428	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		G	119281278	A	G	119281278	3	3	40	1	0	0	0	0	1	0	0	0	5511	246	9	4	13	4	FAM184A	6	119281278	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	8752527	119281278	51833789	24	2909											
TCP10L2	401285	mdanderson.org	37	chr6	167592606	167592606	+	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	cagacggcagcagccggagtTgctggtgagcagggtagggg	8	5	20	8	2	0	2	0	1	0	1	0	3	0	3	1	6	4	6	1	6	1	2	rs201866116	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr6:167592606T>A	ENST00000366832.2	+	6	896	c.765T>A	c.(763-765)gtT>gtA	p.V255V		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						CAGCCGGAGTTGCTGGTGAGC	0.577																																						.											0																																										SO:0001819	synonymous_variant	401285				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.765T>A	6.37:g.167592606T>A				Silent	SNP	ENST00000366832.2	37	CCDS47514.1																																																																																				0.577	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		A	167592606	T	A	167592606	2	1	40	1	0	0	0	0	0	0	0	1	15709	1799	63	5		5	TCP10L2	6	167592606	Silent	SNP	T	TCGA-KN-8425-01A-11D-2310-10	48311328	167592606	3522461	25	2910											
URGCP	55665	broad.mit.edu	37	chr7	43917145	43917146	+	Frame_Shift_Ins	INS	-	-	C																															agtgggcaaaacgcctctggINScctgccggcagcctccctgc																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr7:43917145_43917146insC	ENST00000453200.1	-	6	2409_2410	c.1916_1917insG	c.(1915-1917)ggcfs	p.G639fs	URGCP_ENST00000443736.1_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000336086.6_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000223341.7_Frame_Shift_Ins_p.G596fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.G630fs|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	639					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						AACGCCTCTGGCCTGCCGGCAG	0.629																																						.											0																																										SO:0001589	frameshift_variant	55665				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.1917dupG	7.37:g.43917147_43917147dupC	ENSP00000396918:p.Gly639fs		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Ins	INS	ENST00000453200.1	37	CCDS47578.1																																																																																				0.629	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43917146	-	C	43917145	7	5	40	1	0	1	1	0	0	0	0	0	17023	1190	42	0	882	0	URGCP	7	43917145	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10		43917145	115221518	26	2911											
TRRAP	8295	broad.mit.edu	37	chr7	98522828	98522828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcaaatgcttcctggtgGccatgatgagcctggaggac	9	10	13	9	0	1	3	1	3	0	0	2	5	2	5	3	4	2	1	3	4	1	1			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr7:98522828G>T	ENST00000359863.4	+	22	3126	c.2917G>T	c.(2917-2919)Gcc>Tcc	p.A973S	TRRAP_ENST00000355540.3_Missense_Mutation_p.A973S|TRRAP_ENST00000446306.3_Missense_Mutation_p.A972S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	973					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)	p.A973S(2)		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)			CTTCCTGGTGGCCATGATGAG	0.562																																						.											2	Substitution - Missense(2)	endometrium(2)											173	138	149					7																	98522828		2203	4300	6503	SO:0001583	missense	8295			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.2917G>T	7.37:g.98522828G>T	ENSP00000352925:p.Ala973Ser		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.250101|4.250101	0.80024|0.80024	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.02812|.	4.15;4.15|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53578|0.53578	0.1805|0.1805	N|N	0.16066|0.16066	0.365|0.365	0.80722|0.80722	D|D	1|1	P;B;P|.	0.46784|.	0.884;0.297;0.461|.	B;B;B|.	0.43155|.	0.41;0.077;0.134|.	T|T	0.44143|0.44143	-0.9347|-0.9347	10|5	0.10377|.	T|.	0.69|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	973;687;973|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|C	973;973;971|687	ENSP00000352925:A973S;ENSP00000347733:A973S|.	ENSP00000347733:A973S|.	A|W	+|+	1|3	0|0	TRRAP|TRRAP	98360764|98360764	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.728000|9.728000	0.98792|0.98792	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98522828	G	T	98522828	3	4	40	1	0	0	0	0	1	0	0	0	16598	1203	42	5	2999	5	TRRAP	7	98522828	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	54605683	98522828	60615835	27	2912											
CLCN1	1180	broad.mit.edu	37	chr7	143047474	143047475	+	Frame_Shift_Ins	INS	-	-	G																															tggctgacagattgaggcctINSgggagcaggagcagctgagc																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr7:143047474_143047475insG	ENST00000343257.2	+	21	2500_2501	c.2413_2414insG	c.(2413-2415)tggfs	p.W805fs		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	805					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GATTGAGGCCTGGGAGCAGGAG	0.554																																						.											0																																										SO:0001589	frameshift_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2416dupG	7.37:g.143047477_143047477dupG	ENSP00000339867:p.Trp805fs		A4D2H5|Q2M202	Frame_Shift_Ins	INS	ENST00000343257.2	37	CCDS5881.1																																																																																				0.554	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		G	143047475	-	G	143047474	7	5	40	1	0	1	1	0	0	0	0	0	3462	1580	55	0	2495	0	CLCN1	7	143047474	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	44524646	143047474	16091189	28	2913											
AMAC1L2	83650	mdanderson.org	37	chr8	11189125	11189125	+	Silent	SNP	C	C	A																															ggcagcatcctaggactaatCatcattctgggacctggact																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:11189125C>A	ENST00000382435.4	+	1	729	c.510C>A	c.(508-510)atC>atA	p.I170I		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	170	EamA 1.					integral component of membrane (GO:0016021)											TAGGACTAATCATCATTCTGG	0.597																																						.											0													180	173	176					8																	11189125		2203	4300	6503	SO:0001819	synonymous_variant	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.510C>A	8.37:g.11189125C>A			A2RRL6	Silent	SNP	ENST00000382435.4	37	CCDS5980.1																																																																																				0.597	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11189125	C	A	11189125	2	1	40	1	0	0	0	0	0	0	0	1	560	816	29	5		5	AMAC1L2	8	11189125	Silent	SNP	C	TCGA-KN-8425-01A-11D-2310-10		11189125	135174897	29	2914	86	2									
AMAC1L2	83650	mdanderson.org	37	chr8	11189132	11189132	+	Missense_Mutation	SNP	C	C	G																															tcctaggactaatcatcattCtgggacctggactctggaca																								rs149105667		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:11189132C>G	ENST00000382435.4	+	1	736	c.517C>G	c.(517-519)Ctg>Gtg	p.L173V		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	173	EamA 1.					integral component of membrane (GO:0016021)											AATCATCATTCTGGGACCTGG	0.607																																						.											0													177	171	173					8																	11189132		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.517C>G	8.37:g.11189132C>G	ENSP00000371872:p.Leu173Val		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.426350	0.00186	.	.	ENSG00000177710	ENST00000382435	T	0.53857	0.6	0.34	0.34	0.15985	.	0.000000	0.42964	N	0.000622	T	0.14700	0.0355	N	0.01576	-0.805	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	9	0.02654	T	1	-1.8868	.	.	.	.	173	Q96KT7	S35G5_HUMAN	V	173	ENSP00000371872:L173V	ENSP00000371872:L173V	L	+	1	2	SLC35G5	11226542	0.961000	0.32948	0.861000	0.33841	0.133000	0.20885	-0.006000	0.12833	-1.354000	0.02188	-1.964000	0.00472	CTG		0.607	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		G	11189132	C	G	11189132	3	3	40	1	0	0	0	0	1	0	0	0	560	912	32	5	519	5	AMAC1L2	8	11189132	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	7	11189132	135174890	30	2915	86	2									
PCMTD1	115294	mdanderson.org	37	chr8	52732959	52732959	+	Silent	SNP	G	G	A																															gcttttaaagattcagggagGggcagcttcatgattttttc																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:52732959G>A	ENST00000360540.5	-	7	1432	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	PCMTD1_ENST00000522514.1_Silent_p.P342P|PCMTD1_ENST00000544451.1_Silent_p.P266P|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						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)				ATTCAGGGAGGGGCAGCTTCA	0.353																																						.											0													69	67	68					8																	52732959		2203	4300	6503	SO:0001819	synonymous_variant	115294				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.1026C>T	8.37:g.52732959G>A			Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1																																																																																				0.353	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52732959	G	A	52732959	2	1	40	1	0	0	0	0	0	0	0	1	11586	1219	43	3		3	PCMTD1	8	52732959	Silent	SNP	G	TCGA-KN-8425-01A-11D-2310-10	41543827	52732959	93631063	31	2916	87	2	1	28		3	2	23	N	G_C	4.76137e-05
PCMTD1	115294	mdanderson.org	37	chr8	52732961	52732961	+	Missense_Mutation	SNP	G	G	T																															ttttaaagattcagggagggGcagcttcatgattttttctc																								rs150537425		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:52732961G>T	ENST00000360540.5	-	7	1430	c.1024C>A	c.(1024-1026)Ccc>Acc	p.P342T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342T|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266T|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						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)				TCAGGGAGGGGCAGCTTCATG	0.358																																						.											0													71	69	70					8																	52732961		2203	4300	6503	SO:0001583	missense	115294				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.1024C>A	8.37:g.52732961G>T	ENSP00000353739:p.Pro342Thr		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365461	0.82463	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.71461	0.25;-0.57;0.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	P;D;D	0.91635	0.82;0.999;0.972	D	0.84761	0.0762	10	0.87932	D	0	-0.0352	20.6593	0.99626	0.0:0.0:1.0:0.0	.	212;266;342	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	T	342;266;342	ENSP00000353739:P342T;ENSP00000444026:P266T;ENSP00000428099:P342T	ENSP00000353739:P342T	P	-	1	0	PCMTD1	52895514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.885000	0.99019	0.655000	0.94253	CCC		0.358	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		T	52732961	G	T	52732961	3	4	40	1	0	0	0	0	1	0	0	0	11586	1203	42	5	53	5	PCMTD1	8	52732961	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	2	52732961	93631061	32	2917	87	2	1	28		3	2	23	N	G_C	4.76137e-05
PCMTD1	115294	mdanderson.org	37	chr8	52732981	52732981	+	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	gcagcttcatgattttttctCtcagtaaattttgaggtggc	8	17	9	7	0	3	2	2	2	1	0	4	2	3	2	0	2	1	3	0	2	2	7	rs201786115		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:52732981C>G	ENST00000360540.5	-	7	1410	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R335T|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R259T|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	335						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)				GATTTTTTCTCTCAGTAAATT	0.363																																						.											0													81	76	78					8																	52732981		2203	4300	6503	SO:0001583	missense	115294				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.1004G>C	8.37:g.52732981C>G	ENSP00000353739:p.Arg335Thr		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021524	0.54576	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.58060	1.08;0.36;1.08	5.97	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.71036	2.16	0.58432	D	0.999997	P;D;P	0.56746	0.473;0.977;0.853	B;P;P	0.55923	0.056;0.787;0.504	T	0.71839	-0.4471	10	0.87932	D	0	-19.9202	15.3016	0.73955	0.0:0.9329:0.0:0.0671	.	205;259;335	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	T	335;259;335	ENSP00000353739:R335T;ENSP00000444026:R259T;ENSP00000428099:R335T	ENSP00000353739:R335T	R	-	2	0	PCMTD1	52895534	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.046000	0.76592	1.532000	0.49169	0.655000	0.94253	AGA		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		G	52732981	C	G	52732981	3	3	40	1	0	0	0	0	1	0	0	0	11586	913	32	5	73	5	PCMTD1	8	52732981	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	20	52732981	93631041	33	2918			1	28		3	2	23	N	G_C	4.76137e-05
ARFGEF1	10565	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr8	68152453	68152453	+	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	tcttataccttccaggcaaaGagaggctacttcagtatcat	12	12	7	10	0	3	1	2	0	1	1	4	2	4	1	2	2	2	3	2	2	5	6			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:68152453G>A	ENST00000262215.3	-	20	3312	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L429F|ARFGEF1_ENST00000518230.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	975					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)			TCCAGGCAAAGAGAGGCTACT	0.368																																						.											0													119	109	112					8																	68152453		2203	4300	6503	SO:0001583	missense	10565			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.2923C>T	8.37:g.68152453G>A	ENSP00000262215:p.Leu975Phe		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302469	0.95601	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.52754	0.65;0.65	5.84	5.84	0.93424	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.964	T	0.80520	-0.1346	10	0.87932	D	0	.	20.1466	0.98079	0.0:0.0:1.0:0.0	.	975;429	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	F	429;975	ENSP00000428429:L429F;ENSP00000262215:L975F	ENSP00000262215:L975F	L	-	1	0	ARFGEF1	68315007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.734000	0.74801	2.779000	0.95612	0.591000	0.81541	CTT		0.368	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		A	68152453	G	A	68152453	3	1	40	1	0	0	0	0	1	0	0	0	852	942	33	4	2706	4	ARFGEF1	8	68152453	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	15419472	68152453	78211569	34	2919											
PABPC1	26986	mdanderson.org	37	chr8	101721899	101721899	+	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	tgtaactgctttagtggcttCttctggggaggagaaacata	10	13	12	6	0	2	1	0	0	2	1	2	3	2	2	0	4	3	3	0	4	4	6	rs142985461	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:101721899C>A	ENST00000318607.5	-	8	2161	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Nonsense_Mutation_p.E300*|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Nonsense_Mutation_p.E313*	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	345	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)			TTAGTGGCTTCTTCTGGGGAG	0.423																																						.											0													74	69	71					8																	101721899		2203	4298	6501	SO:0001587	stop_gained	26986			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.1033G>T	8.37:g.101721899C>A	ENSP00000313007:p.Glu345*		Q15097|Q93004	Nonsense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	41|41|41	8.575894|8.575894|8.575894	0.98870|0.98870|0.98870	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100|ENST00000519596	.|.|.	.|.|.	.|.|.	4.92|4.92|4.92	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000008|.|.	.|T|T	.|0.74412|0.74412	.|0.3713|0.3713	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.73987|0.73987	.|-0.3809|-0.3809	.|3|3	0.87932|.|.	D|.|.	0|.|.	.|.|.	18.4911|18.4911|18.4911	0.90848|0.90848|0.90848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	345;345;300;313|213|177	.|.|.	ENSP00000313007:E345X|.|.	E|K|R	-|-|-	1|3|2	0|2|0	PABPC1|PABPC1|PABPC1	101791075|101791075|101791075	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.748000|7.748000|7.748000	0.85085|0.85085|0.85085	2.426000|2.426000|2.426000	0.82243|0.82243|0.82243	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA		0.423	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101721899	C	A	101721899	4	1	40	1	0	0	0	0	0	1	0	0	11363	922	32	5	905	5	PABPC1	8	101721899	Nonsense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	33569446	101721899	44642123	35	2920											
BAI1	575	broad.mit.edu	37	chr8	143562971	143562971	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatctctcaggacgggAccagctacagtggggacctg	9	7	15	10	1	2	1	1	0	1	1	3	5	2	4	2	5	2	1	2	5	1	1			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr8:143562971A>G	ENST00000517894.1	+	11	2923	c.2029A>G	c.(2029-2031)Acc>Gcc	p.T677A	BAI1_ENST00000323289.5_Missense_Mutation_p.T677A			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	677					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)					TCAGGACGGGACCAGCTACAG	0.627																																						.											0													41	48	46					8																	143562971		2060	4186	6246	SO:0001583	missense	575			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.2029A>G	8.37:g.143562971A>G	ENSP00000430945:p.Thr677Ala			Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	A	11.04	1.521645	0.27211	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.09817	2.94;2.94	4.7	-0.423	0.12325	.	0.147583	0.44097	U	0.000497	T	0.06142	0.0159	N	0.21097	0.63	0.37769	D	0.926627	B	0.16802	0.019	B	0.24269	0.052	T	0.27806	-1.0063	10	0.44086	T	0.13	.	4.5373	0.12040	0.4542:0.0:0.3914:0.1544	.	677	E9PBK0	.	A	677	ENSP00000430945:T677A;ENSP00000313046:T677A	ENSP00000313046:T677A	T	+	1	0	BAI1	143559973	1.000000	0.71417	0.964000	0.40570	0.542000	0.35054	2.485000	0.45250	-0.064000	0.13043	0.260000	0.18958	ACC		0.627	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		G	143562971	A	G	143562971	3	3	40	1	0	0	0	0	1	0	0	0	1298	275	10	2	2067	2	BAI1	8	143562971	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	41841072	143562971	2801051	36	2921											
GTF3C5	9328	broad.mit.edu	37	chr9	135929828	135929828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacttgccggtcaaagcaaAgcgcagcacctacaactaca	14	6	8	13	2	1	1	1	1	0	0	1	1	1	1	2	1	7	3	2	1	5	3			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr9:135929828A>G	ENST00000372097.5	+	7	1345	c.1022A>G	c.(1021-1023)aAg>aGg	p.K341R	GTF3C5_ENST00000372095.5_Missense_Mutation_p.K216R|GTF3C5_ENST00000372108.5_Missense_Mutation_p.K341R|GTF3C5_ENST00000342018.8_Missense_Mutation_p.K272R|GTF3C5_ENST00000372099.6_Missense_Mutation_p.K332R	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	341					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GTCAAAGCAAAGCGCAGCACC	0.602																																						.											0													105	89	95					9																	135929828		2203	4300	6503	SO:0001583	missense	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1022A>G	9.37:g.135929828A>G	ENSP00000361169:p.Lys341Arg		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	CCDS6958.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.402263|5.402263	0.96030|0.96030	.|.	.|.	ENSG00000148308|ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697|ENST00000434175;ENST00000435745	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76877|0.76877	0.4049|0.4049	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.89917|.	1.0;0.998;1.0|.	D;D;D|.	0.87578|.	0.998;0.955;0.998|.	T|T	0.78605|0.78605	-0.2139|-0.2139	10|5	0.13108|.	T|.	0.6|.	-10.4115|-10.4115	15.072|15.072	0.72046|0.72046	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	216;341;341|.	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8|.	.;.;TF3C5_HUMAN|.	R|G	341;332;216;191;341;272;216|113;20	ENSP00000361169:K341R;ENSP00000361171:K332R;ENSP00000361167:K216R;ENSP00000361180:K341R;ENSP00000339530:K272R;ENSP00000393207:K216R|.	ENSP00000339530:K272R|.	K|S	+|+	2|1	0|0	GTF3C5|GTF3C5	134919649|134919649	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.981000|0.981000	0.71138|0.71138	8.913000|8.913000	0.92730|0.92730	2.146000|2.146000	0.66826|0.66826	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.602	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		G	135929828	A	G	135929828	3	3	40	1	0	0	0	0	1	0	0	0	6876	72	3	2	1048	2	GTF3C5	9	135929828	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10		135929828	5283603	37	2922											
NOTCH1	4851	broad.mit.edu	37	chr9	139417353	139417354	+	Frame_Shift_Ins	INS	-	-	GA																															cccgtggggcggcaggtgccINScccgttctggcagggcgagg																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr9:139417353_139417354insGA	ENST00000277541.6	-	4	765_766	c.690_691insTC	c.(688-693)gggggcfs	p.G231fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	231	EGF-like 6. {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)		CGGCAGGTGCCCCCGTTCTGGC	0.748			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0										3,3549		1,1,1774						4.8	1			8	11,7377		2,7,3685	no	frameshift	NOTCH1	NM_017617.3		3,8,5459	A1A1,A1R,RR		0.1489,0.0845,0.128				14,10926				SO:0001589	frameshift_variant	4851			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.690_691insTC	9.37:g.139417353_139417354insGA	ENSP00000277541:p.Gly231fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	CCDS43905.1																																																																																				0.748	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		GA	139417354	-	GA	139417353	7	5	40	1	0	1	1	0	0	0	0	0	10547	623	22	0	7100	0	NOTCH1	9	139417353	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	3487525	139417353	1796078	38	2923	88	2									
NOTCH1	4851	broad.mit.edu	37	chr9	139417355	139417356	+	Frame_Shift_Ins	INS	-	-	T																															cgtggggcggcaggtgccccINScgttctggcagggcgagggg																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr9:139417355_139417356insT	ENST00000277541.6	-	4	763_764	c.688_689insA	c.(688-690)gggfs	p.G230fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	230	EGF-like 6. {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)		GCAGGTGCCCCCGTTCTGGCAG	0.748			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0																																										SO:0001589	frameshift_variant	4851			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.688_689insA	9.37:g.139417355_139417356insT	ENSP00000277541:p.Gly230fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	CCDS43905.1																																																																																				0.748	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139417356	-	T	139417355	7	5	40	1	0	1	1	0	0	0	0	0	10547	623	22	0	7102	0	NOTCH1	9	139417355	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	2	139417355	1796076	39	2924	88	2									
OR10A5	144124	mdanderson.org	37	chr11	6867588	6867588	+	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	tatactcgcattgctgctgcTatcctcaagatcccatcagc	9	12	6	14	1	2	1	2	0	0	1	5	1	4	1	2	0	5	4	2	0	4	4			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr11:6867588T>C	ENST00000299454.4	+	1	706	c.675T>C	c.(673-675)gcT>gcC	p.A225A	OR10A5_ENST00000379831.2_Silent_p.A229A			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	225					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(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGCTGCTGCTATCCTCAAGA	0.473																																					Pancreas(44;21 1072 25662 28041 45559)	.											0													286	234	252					11																	6867588		2201	4296	6497	SO:0001819	synonymous_variant	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.675T>C	11.37:g.6867588T>C			O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	CCDS7773.1																																																																																				0.473	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		C	6867588	T	C	6867588	2	2	40	1	0	0	0	0	0	0	0	1	10893	1509	53	2		2	OR10A5	11	6867588	Silent	SNP	T	TCGA-KN-8425-01A-11D-2310-10		6867588	128138928	40	2925											
ABCC8	6833	broad.mit.edu	37	chr11	17483365	17483365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggtgtcttgaagaagAtgtatctctgtggggcacat	8	12	12	9	1	2	3	0	1	2	2	4	3	2	3	1	3	0	2	1	3	3	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr11:17483365A>G	ENST00000389817.3	-	5	655	c.587T>C	c.(586-588)aTc>aCc	p.I196T	ABCC8_ENST00000302539.4_Missense_Mutation_p.I196T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	196					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)	CTTGAAGAAGATGTATCTCTG	0.572																																						.											0													58	55	56					11																	17483365		2200	4293	6493	SO:0001583	missense	6833			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.587T>C	11.37:g.17483365A>G	ENSP00000374467:p.Ile196Thr		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087067	0.55861	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91180	-2.8;-2.8	5.49	5.49	0.81192	.	0.230857	0.36034	N	0.002829	D	0.83806	0.5334	N	0.14661	0.345	0.44439	D	0.997363	B;B	0.18968	0.032;0.009	B;B	0.19946	0.017;0.027	T	0.80056	-0.1542	10	0.51188	T	0.08	.	15.8929	0.79315	1.0:0.0:0.0:0.0	.	196;196	B7Z4N0;Q09428	.;ABCC8_HUMAN	T	196;196;210	ENSP00000374467:I196T;ENSP00000303960:I196T	ENSP00000303960:I196T	I	-	2	0	ABCC8	17439941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.057000	0.93889	2.205000	0.71048	0.528000	0.53228	ATC		0.572	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		G	17483365	A	G	17483365	3	3	40	1	0	0	0	0	1	0	0	0	58	333	12	4	4298	4	ABCC8	11	17483365	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	10615777	17483365	117523151	41	2926											
C2CD3	26005	broad.mit.edu	37	chr11	73820090	73820090	+	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	tcaaagtacctttttctgtgGagttttctttacataaattt	10	20	5	6	0	3	0	1	0	2	0	3	1	3	1	1	1	2	2	1	1	5	9			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr11:73820090G>T	ENST00000334126.7	-	12	2177	c.1951C>A	c.(1951-1953)Cca>Aca	p.P651T	C2CD3_ENST00000313663.7_Missense_Mutation_p.P651T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	651					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTTTTCTGTGGAGTTTTCTTT	0.398																																						.											0													112	110	111					11																	73820090		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1951C>A	11.37:g.73820090G>T	ENSP00000334379:p.Pro651Thr		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	G	0.210	-1.037313	0.02013	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.08546	3.08;3.08	5.46	2.38	0.29361	.	0.291255	0.34223	N	0.004144	T	0.04543	0.0124	L	0.36672	1.1	0.25691	N	0.985688	B	0.28350	0.208	B	0.22152	0.038	T	0.35276	-0.9795	10	0.09084	T	0.74	-1.4511	3.0945	0.06304	0.0926:0.1185:0.4536:0.3353	.	651	Q4AC94-1	.	T	651	ENSP00000334379:P651T;ENSP00000323339:P651T	ENSP00000323339:P651T	P	-	1	0	C2CD3	73497738	0.979000	0.34478	0.885000	0.34714	0.593000	0.36681	1.535000	0.36061	1.310000	0.45006	0.650000	0.86243	CCA		0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73820090	G	T	73820090	3	4	40	1	0	0	0	0	1	0	0	0	2154	1174	41	5	4020	5	C2CD3	11	73820090	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	56336725	73820090	61186426	42	2927											
KIAA1377	57562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	101793446	101793446	+	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	gcagcaacaaaaaatatgtcGaaatcgagcacgtaaatatt	19	8	7	7	3	0	0	0	0	0	0	2	2	0	0	0	0	3	4	0	0	9	4	rs142032267	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr11:101793446G>A	ENST00000263468.8	+	2	473	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	68								p.R68L(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303																																						.											1	Substitution - Missense(1)	lung(1)						G	GLN/ARG	0,4406		0,0,2203	67	70	69		203	5.8	1	11	dbSNP_134	69	1,8597	1.2+/-3.3	0,1,4298	no	missense	KIAA1377	NM_020802.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	68/1118	101793446	1,13003	2203	4299	6502	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.203G>A	11.37:g.101793446G>A	ENSP00000263468:p.Arg68Gln		Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945729	0.92593	0.0	1.16E-4	ENSG00000110318	ENST00000263468	T	0.12361	2.69	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000056	T	0.38241	0.1033	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03728	-1.1009	10	0.87932	D	0	-11.1498	17.6233	0.88088	0.0:0.0:1.0:0.0	.	68	Q9P2H0	K1377_HUMAN	Q	68	ENSP00000263468:R68Q	ENSP00000263468:R68Q	R	+	2	0	KIAA1377	101298656	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.645000	0.67909	2.758000	0.94735	0.591000	0.81541	CGA		0.303	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		A	101793446	G	A	101793446	3	1	40	1	0	0	0	0	1	0	0	0	8227	1058	37	1	209	1	KIAA1377	11	101793446	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	27973356	101793446	33213070	43	2928											
ITGA5	3678	broad.mit.edu	37	chr12	54812840	54812840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccgagagtactgctgggGcctccgcgtctaagttgaag	7	8	14	12	3	1	2	0	1	1	1	2	3	2	2	4	2	2	3	4	2	3	3			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr12:54812840G>T	ENST00000293379.4	-	1	404	c.143C>A	c.(142-144)gCc>gAc	p.A48D	RP11-753H16.3_ENST00000552053.1_RNA|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)	48					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						TACTGCTGGGGCCTCCGCGTC	0.706																																						.											0													13	19	17					12																	54812840		2110	4214	6324	SO:0001583	missense	3678				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.143C>A	12.37:g.54812840G>T	ENSP00000293379:p.Ala48Asp		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699146	0.30142	.	.	ENSG00000161638	ENST00000293379	T	0.69685	-0.42	4.54	3.64	0.41730	.	0.339088	0.30959	N	0.008525	T	0.50411	0.1614	L	0.28400	0.85	0.38871	D	0.956695	B	0.32781	0.384	B	0.28305	0.088	T	0.53078	-0.8489	10	0.39692	T	0.17	.	10.6553	0.45671	0.0:0.1943:0.8057:0.0	.	48	P08648	ITA5_HUMAN	D	48	ENSP00000293379:A48D	ENSP00000293379:A48D	A	-	2	0	ITGA5	53099107	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.524000	0.45589	1.254000	0.44035	0.462000	0.41574	GCC		0.706	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			T	54812840	G	T	54812840	3	4	40	1	0	0	0	0	1	0	0	0	7879	1203	42	5	3126	5	ITGA5	12	54812840	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		54812840	79039055	44	2929											
FBXO21	23014	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	117624289	117624289	+	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	agctatggcttaccttccttCcatatttaggatacacacca	11	13	5	12	0	0	0	0	0	0	0	2	1	2	1	4	2	3	2	4	2	5	8			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr12:117624289C>A	ENST00000330622.5	-	3	462	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Nonsense_Mutation_p.E155*			O94952	FBX21_HUMAN	F-box protein 21	155					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TACCTTCCTTCCATATTTAGG	0.388																																					GBM(168;452 2038 13535 17701 43680)	.											0													91	88	89					12																	117624289		2203	4300	6503	SO:0001587	stop_gained	23014			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.463G>T	12.37:g.117624289C>A	ENSP00000328187:p.Glu155*		B3KMF0|Q5BJG0|Q9H087	Nonsense_Mutation	SNP	ENST00000330622.5	37	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.478785|4.478785	0.84747|0.84747	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.058331|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76506	.|0.3997	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74680	.|-0.3584	.|3	0.14252|.	T|.	0.57|.	-14.5205|-14.5205	19.3563|19.3563	0.94416|0.94416	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	155;71;71;155|98	.|.	ENSP00000257563:E71X|.	E|G	-|-	1|2	0|0	FBXO21|FBXO21	116108672|116108672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.803000|4.803000	0.62546|0.62546	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.388	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		A	117624289	C	A	117624289	4	1	40	1	0	0	0	0	0	1	0	0	5733	864	30	5	1463	5	FBXO21	12	117624289	Nonsense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	62811449	117624289	16227606	45	2930											
TMEM30B	161291	mdanderson.org	37	chr14	61747644	61747644	+	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	gcggcgcacaccgagcagttAccggtgcccgggtcgcctgt	5	6	15	15	6	0	0	0	0	0	0	1	1	0	0	4	3	3	3	4	3	1	1	rs3196765	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr14:61747644A>G	ENST00000555868.1	-	1	914	c.222T>C	c.(220-222)ggT>ggC	p.G74G	TMEM30B_ENST00000355702.2_Silent_p.G74G|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	74					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)		CCGAGCAGTTACCGGTGCCCG	0.706													G|||	3905	0.779752	0.6528	0.7392	5008	,	,		11768	0.8591		0.8638	False		,,,				2504	0.8119					.											0								G		2664,1138		957,750,194	6	5	6		222	4.3	1	14	dbSNP_105	6	6522,954		2863,796,79	no	coding-synonymous	TMEM30B	NM_001017970.2		3820,1546,273	GG,GA,AA		12.7608,29.9316,18.5494		74/352	61747644	9186,2092	1901	3738	5639	SO:0001819	synonymous_variant	161291			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.222T>C	14.37:g.61747644A>G			B3KR84|Q14D00	Silent	SNP	ENST00000555868.1	37	CCDS32093.1																																																																																				0.706	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		G	61747644	A	G	61747644	2	3	40	1	0	0	0	0	0	0	0	1	16151	378	14	2		2	TMEM30B	14	61747644	Silent	SNP	A	TCGA-KN-8425-01A-11D-2310-10		61747644	45601896	46	2931											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209023	65209024	+	Frame_Shift_Ins	INS	-	-	C																															gaacaaggtctaccagctggINScccgccagtacagcctccgg																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr14:65209023_65209024insC	ENST00000394691.1	+	16	2935_2936	c.2788_2789insC	c.(2788-2790)gccfs	p.A930fs	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Frame_Shift_Ins_p.A874fs|PLEKHG3_ENST00000484731.2_Frame_Shift_Ins_p.A435fs|PLEKHG3_ENST00000471182.2_Frame_Shift_Ins_p.A463fs			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	930							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)		CTACCAGCTGGCCCGCCAGTAC	0.644																																						.											0																																										SO:0001589	frameshift_variant	26030			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.2791dupC	14.37:g.65209026_65209026dupC	ENSP00000378183:p.Ala930fs		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Frame_Shift_Ins	INS	ENST00000394691.1	37																																																																																					0.644	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		C	65209024	-	C	65209023	7	5	40	1	0	1	1	0	0	0	0	0	12070	1203	42	0	2670	0	PLEKHG3	14	65209023	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	3461379	65209023	42140517	47	2932											
BAG5	9529	bcgsc.ca	37	chr14	104026390	104026390	+	Missense_Mutation	SNP	T	T	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	cagacaagtttccaaggacgTtccagacggctttatgggat	11	10	11	9	2	0	2	0	0	0	2	2	4	2	4	2	3	0	3	2	3	3	4			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr14:104026390T>C	ENST00000445922.2	-	2	1358	c.1112A>G	c.(1111-1113)aAc>aGc	p.N371S	RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.N412S|BAG5_ENST00000299204.4_Missense_Mutation_p.N371S|APOPT1_ENST00000247618.4_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	371	BAG 5. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCCAAGGACGTTCCAGACGGC	0.468																																					NSCLC(171;1832 2055 18950 31566 41632)	.											0													108	118	114					14																	104026390		2203	4300	6503	SO:0001583	missense	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1112A>G	14.37:g.104026390T>C	ENSP00000391713:p.Asn371Ser		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.534118	0.00951	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.88124	-2.34;-2.34;-2.34	5.76	-4.14	0.03892	BAG domain (3);	1.814820	0.02770	N	0.119546	T	0.69735	0.3144	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	0.62220	-0.6900	10	0.13108	T	0.6	-0.4667	9.606	0.39634	0.0:0.3661:0.3681:0.2658	.	371;412	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	S	371;371;412	ENSP00000299204:N371S;ENSP00000391713:N371S;ENSP00000338814:N412S	ENSP00000299204:N371S	N	-	2	0	BAG5	103096143	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.686000	0.01929	-0.743000	0.04784	0.533000	0.62120	AAC		0.468	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			C	104026390	T	C	104026390	3	2	40	1	0	0	0	0	1	0	0	0	1290	1725	60	2	235	2	BAG5	14	104026390	Missense_Mutation	SNP	T	TCGA-KN-8425-01A-11D-2310-10	38817367	104026390	3323150	48	2933											
DNAJC17	55192	hgsc.bcm.edu	37	chr15	41060179	41060179	+	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	gtcttcctgctgcatccgtgCgatcagctgttgccgctcgg	3	12	12	14	4	2	0	1	0	1	0	5	1	4	0	3	1	5	5	3	1	0	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr15:41060179C>T	ENST00000220496.4	-	11	904	c.874G>A	c.(874-876)Gca>Aca	p.A292T	C15orf62_ENST00000344320.6_5'Flank|DNAJC17_ENST00000558727.1_5'UTR	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	292					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGCATCCGTGCGATCAGCTGT	0.607																																						.											0													76	68	70					15																	41060179		2203	4300	6503	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.874G>A	15.37:g.41060179C>T	ENSP00000220496:p.Ala292Thr			Missense_Mutation	SNP	ENST00000220496.4	37	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457642	0.43634	.	.	ENSG00000104129	ENST00000220496	T	0.17691	2.26	5.74	3.87	0.44632	.	0.103900	0.64402	D	0.000004	T	0.18425	0.0442	L	0.60455	1.87	0.36819	D	0.886305	B	0.10296	0.003	B	0.09377	0.004	T	0.06197	-1.0840	10	0.54805	T	0.06	.	10.9764	0.47469	0.0:0.8536:0.0:0.1464	.	292	Q9NVM6	DJC17_HUMAN	T	292	ENSP00000220496:A292T	ENSP00000220496:A292T	A	-	1	0	DNAJC17	38847471	0.919000	0.31177	0.767000	0.31495	0.282000	0.26991	1.831000	0.39141	0.900000	0.36469	0.561000	0.74099	GCA		0.607	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		T	41060179	C	T	41060179	3	4	40	1	0	0	0	0	1	0	0	0	4636	768	27	1	44	1	DNAJC17	15	41060179	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10		41060179	61471213	49	2934											
CEP152	22995	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr15	49081131	49081131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagtgattcagaatgaTgaaggtccaccagctgctgc	11	10	12	8	0	1	5	1	4	0	1	2	5	2	5	2	1	3	3	2	1	3	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr15:49081131T>C	ENST00000380950.2	-	9	1227	c.1040A>G	c.(1039-1041)cAt>cGt	p.H347R	CEP152_ENST00000399334.3_Missense_Mutation_p.H347R|CEP152_ENST00000325747.5_Missense_Mutation_p.H254R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	347					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCAGAATGATGAAGGTCCAC	0.408																																						.											0													175	160	165					15																	49081131		1938	4147	6085	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1040A>G	15.37:g.49081131T>C	ENSP00000370337:p.His347Arg		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	2.260	-0.369551	0.05069	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.75589	-0.95;-0.95;-0.95	5.79	-3.12	0.05282	.	0.430803	0.27932	N	0.017275	T	0.43722	0.1260	N	0.10664	0.02	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.002	T	0.42344	-0.9457	10	0.06625	T	0.88	-4.476	9.3157	0.37932	0.0:0.4731:0.1117:0.4153	.	254;347;347	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	R	347;254;347;347	ENSP00000370337:H347R;ENSP00000321000:H254R;ENSP00000382271:H347R	ENSP00000321000:H254R	H	-	2	0	CEP152	46868423	0.768000	0.28519	0.180000	0.23079	0.984000	0.73092	0.432000	0.21461	-0.336000	0.08438	0.533000	0.62120	CAT		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		C	49081131	T	C	49081131	3	2	40	1	0	0	0	0	1	0	0	0	3248	1464	51	4	3996	4	CEP152	15	49081131	Missense_Mutation	SNP	T	TCGA-KN-8425-01A-11D-2310-10	8020952	49081131	53450261	50	2935											
ACAN	176	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr15	89383275	89383275	+	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	attacagagccatctctacaCgctacaccctcgactttgac	11	10	5	15	2	1	2	0	1	1	1	3	3	1	2	2	0	4	1	2	0	3	4			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr15:89383275C>T	ENST00000561243.1	+	3	487	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ACAN_ENST00000558207.1_Missense_Mutation_p.R163C|ACAN_ENST00000559004.1_Missense_Mutation_p.R163C|ACAN_ENST00000439576.2_Missense_Mutation_p.R163C|ACAN_ENST00000352105.7_Missense_Mutation_p.R163C			P16112	PGCA_HUMAN	aggrecan	163	G1-B.|Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			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)			CATCTCTACACGCTACACCCT	0.597																																						.											0													47	43	44					15																	89383275		2126	4231	6357	SO:0001583	missense	176			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.487C>T	15.37:g.89383275C>T	ENSP00000453342:p.Arg163Cys		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331458	0.60853	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.15372	2.43;2.43	5.79	5.79	0.91817	.	0.000000	0.33075	N	0.005313	T	0.51550	0.1681	M	0.93854	3.465	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61926	-0.6962	10	0.87932	D	0	-18.174	12.6082	0.56535	0.2601:0.7399:0.0:0.0	.	163;163;163	E7ENV9;E7EX88;Q6PID9	.;.;.	C	163	ENSP00000387356:R163C;ENSP00000341615:R163C	ENSP00000268134:R163C	R	+	1	0	ACAN	87184279	1.000000	0.71417	0.982000	0.44146	0.756000	0.42949	4.786000	0.62425	2.733000	0.93635	0.655000	0.94253	CGC		0.597	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89383275	C	T	89383275	3	4	40	1	0	0	0	0	1	0	0	0	117	536	19	1	497	1	ACAN	15	89383275	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	40302144	89383275	13148117	51	2936											
CRAMP1L	57585	broad.mit.edu	37	chr16	1705979	1705979	+	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	ggcgagaactgtacactgacAccgctgccgggcgtggctcg	7	6	15	13	5	0	2	0	1	0	1	1	3	0	2	2	3	3	3	2	3	2	1			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr16:1705979A>G	ENST00000397412.3	+	10	1320	c.1221A>G	c.(1219-1221)acA>acG	p.T407T	CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Silent_p.T404T|CRAMP1L_ENST00000293925.5_Silent_p.T407T|LA16c-431H6.6_ENST00000454337.1_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	407						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						GTACACTGACACCGCTGCCGG	0.647																																						.											0													33	38	36					16																	1705979		2172	4272	6444	SO:0001819	synonymous_variant	57585			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.1221A>G	16.37:g.1705979A>G			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	CCDS10440.2																																																																																				0.647	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			G	1705979	A	G	1705979	2	3	40	1	0	0	0	0	0	0	0	1	3846	146	6	2		2	CRAMP1L	16	1705979	Silent	SNP	A	TCGA-KN-8425-01A-11D-2310-10		1705979	88648774	52	2937											
MAPK3	5595	hgsc.bcm.edu	37	chr16	30128095	30128095	+	Missense_Mutation	SNP	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	gctccatggcgaaggtgaagGgctcctcggccactggctgg	6	7	16	12	2	0	1	0	1	0	0	3	2	2	1	3	6	0	3	3	6	2	0			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr16:30128095G>T	ENST00000263025.4	-	8	1118	c.1034C>A	c.(1033-1035)cCc>cAc	p.P345H	MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000484663.1_Missense_Mutation_p.P231H|MAPK3_ENST00000322266.5_Missense_Mutation_p.P301H|MAPK3_ENST00000494643.1_5'Flank|GDPD3_ENST00000406256.3_5'Flank|MAPK3_ENST00000395200.1_Missense_Mutation_p.P277H|MAPK3_ENST00000395202.1_Missense_Mutation_p.P301H	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	345					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|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)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|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)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	GAAGGTGAAGGGCTCCTCGGC	0.662																																						.											0													43	46	45					16																	30128095		2197	4300	6497	SO:0001583	missense	5595			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.1034C>A	16.37:g.30128095G>T	ENSP00000263025:p.Pro345His		A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498895	0.85069	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000322266;ENST00000395200;ENST00000395202;ENST00000478356	T;T;T;T;T;T	0.77489	-1.1;-1.01;-1.07;0.61;-1.07;2.77	5.79	5.79	0.91817	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	M	0.92507	3.315	0.80722	D	1	D;B	0.76494	0.999;0.268	D;B	0.69479	0.964;0.067	D	0.92267	0.5822	10	0.66056	D	0.02	-0.0145	18.7978	0.92003	0.0:0.0:1.0:0.0	.	301;345	P27361-2;P27361	.;MK03_HUMAN	H	345;231;301;277;301;108	ENSP00000263025:P345H;ENSP00000432742:P231H;ENSP00000327293:P301H;ENSP00000378626:P277H;ENSP00000378628:P301H;ENSP00000432292:P108H	ENSP00000263025:P345H	P	-	2	0	MAPK3	30035596	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.635000	0.98437	2.735000	0.93741	0.655000	0.94253	CCC		0.662	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			T	30128095	G	T	30128095	3	4	40	1	0	0	0	0	1	0	0	0	9279	1232	43	5	109	5	MAPK3	16	30128095	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	28422116	30128095	60226658	53	2938											
RAP1GAP2	23108	bcgsc.ca	37	chr17	2901629	2901629	+	Missense_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	tcttacatgcctacatcgtcGtgcaggtcgagaccccaggc	8	9	10	14	3	1	1	0	0	1	1	4	2	1	1	3	2	4	1	3	2	2	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr17:2901629G>A	ENST00000254695.8	+	14	1249	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V372M|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V387M|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V368M	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						CTACATCGTCGTGCAGGTCGA	0.532																																						.											0													99	99	99					17																	2901629		2055	4186	6241	SO:0001583	missense	23108			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.1159G>A	17.37:g.2901629G>A	ENSP00000254695:p.Val387Met		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749844	0.69533	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11	5.66	5.66	0.87406	Rap/ran-GAP (2);	0.112822	0.64402	D	0.000010	D	0.98915	0.9632	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66979	0.92;0.948	D	0.99414	1.0931	10	0.87932	D	0	-1.3817	18.7291	0.91728	0.0:0.0:1.0:0.0	.	372;387	Q684P5-2;Q684P5	.;RPGP2_HUMAN	M	387;372;368;387	ENSP00000254695:V387M;ENSP00000389824:V372M;ENSP00000439688:V368M;ENSP00000444890:V387M	ENSP00000254695:V387M	V	+	1	0	RAP1GAP2	2848379	1.000000	0.71417	0.945000	0.38365	0.122000	0.20287	9.869000	0.99810	2.670000	0.90874	0.561000	0.74099	GTG		0.532	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			A	2901629	G	A	2901629	3	1	40	1	0	0	0	0	1	0	0	0	13038	1145	40	1	1213	1	RAP1GAP2	17	2901629	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10		2901629	78293581	54	2939											
CHD3	1107	broad.mit.edu;hgsc.bcm.edu	37	chr17	7793910	7793910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaggaggaatttggtTctgagcgagatgagtaccgg	11	9	16	5	2	1	4	0	3	1	1	1	7	1	6	1	4	2	2	1	4	2	3			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr17:7793910T>C	ENST00000330494.7	+	3	385	c.235T>C	c.(235-237)Tct>Cct	p.S79P	CHD3_ENST00000380358.4_Missense_Mutation_p.S138P|CHD3_ENST00000358181.4_Missense_Mutation_p.S79P|CHD3_ENST00000570758.1_3'UTR	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	79					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)				GGAATTTGGTTCTGAGCGAGA	0.448																																						.											0													39	42	41					17																	7793910		2203	4300	6503	SO:0001583	missense	1107			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.235T>C	17.37:g.7793910T>C	ENSP00000332628:p.Ser79Pro		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596618	0.46318	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;D;D	0.90261	1.47;-2.64;-2.64	4.76	4.76	0.60689	.	0.000000	0.38605	N	0.001630	D	0.92704	0.7681	L	0.43152	1.355	0.52501	D	0.999958	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.75484	0.986;0.969;0.979	D	0.92477	0.5990	10	0.44086	T	0.13	-10.0278	14.2672	0.66126	0.0:0.0:0.0:1.0	.	79;79;138	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	P	138;79;79	ENSP00000369716:S138P;ENSP00000350907:S79P;ENSP00000332628:S79P	ENSP00000332628:S79P	S	+	1	0	CHD3	7734635	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.390000	0.79816	1.765000	0.52091	0.383000	0.25322	TCT		0.448	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		C	7793910	T	C	7793910	3	2	40	1	0	0	0	0	1	0	0	0	3326	1783	62	4	526	4	CHD3	17	7793910	Missense_Mutation	SNP	T	TCGA-KN-8425-01A-11D-2310-10	4892281	7793910	73401300	55	2940											
ABCC3	8714	bcgsc.ca	37	chr17	48744970	48744970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgatgagtgagatcctgaAcggcatcaaggtgctgaagc	11	8	14	8	1	1	5	1	5	0	1	2	6	2	5	1	2	3	3	1	2	3	0			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr17:48744970A>G	ENST00000285238.8	+	12	1567	c.1487A>G	c.(1486-1488)aAc>aGc	p.N496S	ABCC3_ENST00000427699.1_Missense_Mutation_p.N496S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	496	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GAGATCCTGAACGGCATCAAG	0.592																																						.											0													85	71	75					17																	48744970		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1487A>G	17.37:g.48744970A>G	ENSP00000285238:p.Asn496Ser		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	A	1.000	-0.691101	0.03303	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.88431	-2.38;-2.38	3.92	0.653	0.17828	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.715086	0.13639	N	0.373093	T	0.76499	0.3996	N	0.21142	0.635	0.32001	N	0.603402	B;B	0.24823	0.008;0.112	B;B	0.30855	0.026;0.121	T	0.64947	-0.6287	10	0.07175	T	0.84	-0.0616	4.479	0.11757	0.2791:0.1635:0.5574:0.0	.	496;496	O15438;O15438-5	MRP3_HUMAN;.	S	496	ENSP00000395160:N496S;ENSP00000285238:N496S	ENSP00000285238:N496S	N	+	2	0	ABCC3	46099969	0.631000	0.27164	0.520000	0.27837	0.765000	0.43378	1.047000	0.30367	0.075000	0.16796	-0.427000	0.05922	AAC		0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		G	48744970	A	G	48744970	3	3	40	1	0	0	0	0	1	0	0	0	54	43	2	2	1533	2	ABCC3	17	48744970	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10	40951060	48744970	32450240	56	2941											
RPTOR	57521	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	78866565	78866565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgcgagacagcccgtGcacccccagacttcgttctg	7	7	10	17	3	1	2	0	0	1	2	2	3	1	2	4	0	3	2	4	0	0	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr17:78866565G>T	ENST00000306801.3	+	19	2500	c.2138G>T	c.(2137-2139)tGc>tTc	p.C713F	RPTOR_ENST00000544334.2_Missense_Mutation_p.C555F|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	713					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						GACAGCCCGTGCACCCCCAGA	0.542																																						.											0													130	133	132					17																	78866565		2203	4300	6503	SO:0001583	missense	57521				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.2138G>T	17.37:g.78866565G>T	ENSP00000307272:p.Cys713Phe		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133093	0.37630	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.42131	1.03;0.98	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.158118	0.42053	D	0.000768	T	0.25938	0.0632	N	0.08118	0	0.80722	D	1	P;B	0.36249	0.545;0.001	B;B	0.34931	0.192;0.004	T	0.11891	-1.0569	10	0.33940	T	0.23	.	17.5562	0.87890	0.0:0.0:1.0:0.0	.	555;713	F5H7J5;Q8N122	.;RPTOR_HUMAN	F	713;555	ENSP00000307272:C713F;ENSP00000442479:C555F	ENSP00000307272:C713F	C	+	2	0	RPTOR	76481160	1.000000	0.71417	0.998000	0.56505	0.386000	0.30323	6.441000	0.73439	2.143000	0.66587	0.655000	0.94253	TGC		0.542	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		T	78866565	G	T	78866565	3	4	40	1	0	0	0	0	1	0	0	0	13665	1319	46	5	2212	5	RPTOR	17	78866565	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	30121595	78866565	2328645	57	2942											
SLC39A3	29985	bcgsc.ca	37	chr19	2732787	2732787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcccggccaggacggtgtAgcccagcaccaggaagagga	11	3	14	13	2	0	1	0	0	0	1	1	4	1	4	4	5	2	2	4	5	2	1			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:2732787A>G	ENST00000269740.4	-	3	1236	c.907T>C	c.(907-909)Tac>Cac	p.Y303H	SLC39A3_ENST00000545664.1_Missense_Mutation_p.Y303H|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	303					transmembrane transport (GO:0055085)	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(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		AGGACGGTGTAGCCCAGCACC	0.672																																						.											0													48	38	41					19																	2732787		2203	4299	6502	SO:0001583	missense	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.907T>C	19.37:g.2732787A>G	ENSP00000269740:p.Tyr303His		B3KMJ3|Q8WUG1	Missense_Mutation	SNP	ENST00000269740.4	37	CCDS12093.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949013	0.73787	.	.	ENSG00000141873	ENST00000545664;ENST00000269740	T;T	0.48201	0.82;0.82	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.971;0.985	T	0.67956	-0.5536	10	0.87932	D	0	-19.2825	12.7846	0.57498	1.0:0.0:0.0:0.0	.	303;303	F5H385;Q9BRY0	.;S39A3_HUMAN	H	303	ENSP00000445345:Y303H;ENSP00000269740:Y303H	ENSP00000269740:Y303H	Y	-	1	0	SLC39A3	2683787	1.000000	0.71417	0.958000	0.39756	0.788000	0.44548	8.720000	0.91442	1.698000	0.51180	0.374000	0.22700	TAC		0.672	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			G	2732787	A	G	2732787	3	3	40	1	0	0	0	0	1	0	0	0	14619	420	15	2	41	2	SLC39A3	19	2732787	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10		2732787	56396196	58	2943											
EBI3	10148	mdanderson.org	37	chr19	4237067	4237067	+	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	agtctccccgccactgccacAatgagcctgggcaagtagca	10	6	10	15	1	1	1	0	1	1	0	2	1	1	1	5	1	3	3	5	1	3	1	rs4905	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:4237067A>G	ENST00000221847.5	+	5	725	c.672A>G	c.(670-672)acA>acG	p.T224T		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	224	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTGCCACAATGAGCCTGG	0.657													G|||	2308	0.460863	0.6679	0.2767	5008	,	,		15560	0.4435		0.3052	False		,,,				2504	0.4898					.											0								G		2725,1681	481.7+/-359.2	844,1037,322	40	40	40		672	-7.3	0	19	dbSNP_52	40	2457,6143	665.9+/-402.3	372,1713,2215	no	coding-synonymous	EBI3	NM_005755.2		1216,2750,2537	GG,GA,AA		28.5698,38.1525,39.8431		224/230	4237067	5182,7824	2203	4300	6503	SO:0001819	synonymous_variant	10148			L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.672A>G	19.37:g.4237067A>G			A0N0N2|O75269	Silent	SNP	ENST00000221847.5	37	CCDS12123.1																																																																																				0.657	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			G	4237067	A	G	4237067	2	3	40	1	0	0	0	0	0	0	0	1	4883	117	5	4		4	EBI3	19	4237067	Silent	SNP	A	TCGA-KN-8425-01A-11D-2310-10	1504280	4237067	54891916	59	2944											
MUC16	94025	mdanderson.org	37	chr19	8999445	8999445	+	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	aggggcccagctcagtgatgCtgtgggtcagctggctcagc	6	8	16	11	0	3	1	3	1	0	0	3	1	3	1	1	4	4	4	1	4	0	0	rs112439001	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:8999445C>T	ENST00000397910.4	-	56	40933	c.40730G>A	c.(40729-40731)aGc>aAc	p.S13577N	MUC16_ENST00000380951.5_Missense_Mutation_p.S218N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13579	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAGTGATGCTGTGGGTCAG	0.572													C|||	228	0.0455272	0.025	0.062	5008	,	,		20165	0.1012		0	False		,,,				2504	0.0511					.											0													231	193	206					19																	8999445		2056	4204	6260	SO:0001583	missense	94025			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.40730G>A	19.37:g.8999445C>T	ENSP00000381008:p.Ser13577Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.899|3.899	-0.022418|-0.022418	0.07634|0.07634	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.29142	.|1.58;1.58	2.95|2.95	1.9|1.9	0.25705|0.25705	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.44281	.|0.0;0.831	.|B;P	.|0.60541	.|0.003;0.876	T|T	0.49781|0.49781	-0.8903|-0.8903	3|7	.|0.41790	.|T	.|0.15	.|.	5.174|5.174	0.15126|0.15126	0.0:0.8277:0.0:0.1723|0.0:0.8277:0.0:0.1723	.|.	.|21222;13577	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	417|13577;218	.|ENSP00000381008:S13577N;ENSP00000370338:S218N	.|ENSP00000370338:S218N	A|S	-|-	1|2	0|0	MUC16|MUC16	8860445|8860445	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	0.554000|0.554000	0.23407|0.23407	0.786000|0.786000	0.33708|0.33708	0.555000|0.555000	0.69702|0.69702	GCA|AGC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8999445	C	T	8999445	3	4	40	1	0	0	0	0	1	0	0	0	9973	797	28	4	2909	4	MUC16	19	8999445	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	4762378	8999445	50129538	60	2945											
MUC16	94025	mdanderson.org	37	chr19	9012858	9012858	+	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	tcgtactgcaggttggtgatGgtgaagttgagggtgaatgg	8	12	18	3	1	0	4	0	4	0	0	1	4	0	4	0	5	2	4	0	5	3	3	rs111669353		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:9012858G>A	ENST00000397910.4	-	34	38789	c.38586C>T	c.(38584-38586)acC>acT	p.T12862T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12864	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGGTGATGGTGAAGTTGA	0.537																																						.											0													255	217	229					19																	9012858		2027	4189	6216	SO:0001819	synonymous_variant	94025			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.38586C>T	19.37:g.9012858G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9012858	G	A	9012858	2	1	40	1	0	0	0	0	0	0	0	1	9973	1335	47	4		4	MUC16	19	9012858	Silent	SNP	G	TCGA-KN-8425-01A-11D-2310-10	13413	9012858	50116125	61	2946											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	9058813	9058813	+	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	ggtgaccactggagatatcaCttttgttggctctgagaagc	9	12	12	8	0	2	3	1	2	1	2	2	5	2	3	1	3	1	2	1	3	2	4			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:9058813C>G	ENST00000397910.4	-	3	28836	c.28633G>C	c.(28633-28635)Gtg>Ctg	p.V9545L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9547	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						GGAGATATCACTTTTGTTGGC	0.453																																						.											0													104	100	101					19																	9058813		1917	4133	6050	SO:0001583	missense	94025			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.28633G>C	19.37:g.9058813C>G	ENSP00000381008:p.Val9545Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.100	0.204117	0.09704	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.27	-0.0985	0.13628	.	.	.	.	.	T	0.14960	0.0361	N	0.24115	0.695	.	.	.	B	0.19817	0.039	B	0.23574	0.047	T	0.25467	-1.0131	8	0.87932	D	0	.	3.2643	0.06859	0.0:0.5449:0.2801:0.175	.	9545	B5ME49	.	L	9545	ENSP00000381008:V9545L	ENSP00000381008:V9545L	V	-	1	0	MUC16	8919813	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.943000	0.03917	0.051000	0.15978	0.305000	0.20034	GTG		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9058813	C	G	9058813	3	3	40	1	0	0	0	0	1	0	0	0	9973	565	20	5	15218	5	MUC16	19	9058813	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10	45955	9058813	50070170	62	2947											
CEACAM1	634	mdanderson.org	37	chr19	43031318	43031318	+	Missense_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	gggatgcattggggtatattGtctctcgaccgctgtttgcg	5	14	14	8	3	1	0	0	0	1	0	3	2	1	1	1	3	2	4	1	3	2	5	rs199627333		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:43031318G>A	ENST00000161559.6	-	2	433	c.299C>T	c.(298-300)aCa>aTa	p.T100I	CEACAM1_ENST00000358394.3_Missense_Mutation_p.T100I|CEACAM1_ENST00000352591.5_Missense_Mutation_p.T100I|CEACAM1_ENST00000599389.1_Missense_Mutation_p.T100I|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.T100I|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.T100I|CEACAM1_ENST00000403444.3_Missense_Mutation_p.T100I|CEACAM1_ENST00000308072.4_Missense_Mutation_p.T60I|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	100	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGGGTATATTGTCTCTCGACC	0.473																																						.											0													358	304	322					19																	43031318		2203	4300	6503	SO:0001583	missense	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.299C>T	19.37:g.43031318G>A	ENSP00000161559:p.Thr100Ile		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	g	8.472	0.857824	0.17178	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.41	-0.431	0.12295	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46737	0.1408	L	0.33485	1.01	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.31989	0.35;0.005;0.001;0.003;0.001;0.005;0.197;0.012;0.022;0.054	B;B;B;B;B;B;B;B;B;B	0.30495	0.103;0.005;0.003;0.006;0.002;0.01;0.116;0.007;0.051;0.026	T	0.26710	-1.0095	9	0.24483	T	0.36	.	3.4213	0.07395	0.1214:0.1385:0.5979:0.1422	.	100;100;100;100;100;100;100;100;100;100	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	I	100;100;100;127;60;100;100;100;60;100;100;100	ENSP00000161559:T100I;ENSP00000351165:T100I;ENSP00000325946:T100I;ENSP00000244291:T100I;ENSP00000384709:T100I;ENSP00000384083:T100I;ENSP00000312184:T60I	ENSP00000161559:T100I	T	-	2	0	CEACAM1	47723158	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.426000	0.02443	-0.044000	0.13491	-2.357000	0.00240	ACA		0.473	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		A	43031318	G	A	43031318	3	1	40	1	0	0	0	0	1	0	0	0	3187	1377	48	4	1410	4	CEACAM1	19	43031318	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	33972505	43031318	16097665	63	2948			2	29		2	2	12	G		2.380713e-05
CEACAM1	634	mdanderson.org	37	chr19	43031329	43031329	+	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	gggtatattgtctctcgaccGctgtttgcgggccctggggt	3	13	15	10	3	1	0	0	0	1	0	3	1	1	0	2	4	1	3	2	4	2	4	rs143477834		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:43031329G>A	ENST00000161559.6	-	2	422	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM1_ENST00000358394.3_Silent_p.S96S|CEACAM1_ENST00000352591.5_Silent_p.S96S|CEACAM1_ENST00000599389.1_Silent_p.S96S|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Silent_p.S96S|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Silent_p.S96S|CEACAM1_ENST00000403444.3_Silent_p.S96S|CEACAM1_ENST00000308072.4_Silent_p.S56S|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	96	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TCTCTCGACCGCTGTTTGCGG	0.488																																						.											0													338	284	303					19																	43031329		2203	4300	6503	SO:0001819	synonymous_variant	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.288C>T	19.37:g.43031329G>A			A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	CCDS12609.1																																																																																				0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		A	43031329	G	A	43031329	2	1	40	1	0	0	0	0	0	0	0	1	3187	1078	38	1		1	CEACAM1	19	43031329	Silent	SNP	G	TCGA-KN-8425-01A-11D-2310-10	11	43031329	16097654	64	2949			2	29		2	2	12	G		2.380713e-05
MYH14	79784	broad.mit.edu	37	chr19	50805044	50805045	+	Frame_Shift_Ins	INS	-	-	C																															gggtgaggaggatgctggggINScccgtgcccgccacaagatg																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:50805044_50805045insC	ENST00000596571.1	+	37	5473_5474	c.5473_5474insC	c.(5473-5475)gccfs	p.A1825fs	MYH14_ENST00000440075.2_Frame_Shift_Ins_p.A1866fs|MYH14_ENST00000262269.8_Frame_Shift_Ins_p.A1866fs|MYH14_ENST00000598205.1_Frame_Shift_Ins_p.A1833fs|MYH14_ENST00000425460.1_Frame_Shift_Ins_p.A1833fs|MYH14_ENST00000376970.2_Frame_Shift_Ins_p.A1858fs|MYH14_ENST00000601313.1_Frame_Shift_Ins_p.A1866fs			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1825					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)		GGATGCTGGGGCCCGTGCCCGC	0.639																																						.											0																																										SO:0001589	frameshift_variant	79784			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.5476dupC	19.37:g.50805047_50805047dupC	ENSP00000472819:p.Ala1825fs		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Ins	INS	ENST00000596571.1	37	CCDS59411.1																																																																																				0.639	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		C	50805045	-	C	50805044	7	5	40	1	0	1	1	0	0	0	0	0	10033	1203	42	0	5750	0	MYH14	19	50805044	Frame_Shift_Ins	INS	-	TCGA-KN-8425-01A-11D-2310-10	7773715	50805044	8323939	65	2950											
NLRP9	338321	broad.mit.edu	37	chr19	56243852	56243852	+	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	catggcggcacaaaactcttGgatacacagatgcatgaagg	14	7	11	9	1	1	2	0	1	1	1	1	3	1	3	0	4	3	2	0	4	4	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr19:56243852G>A	ENST00000332836.2	-	2	1372	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	449	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Q449K(1)		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)		CAAAACTCTTGGATACACAGA	0.502																																						.											1	Substitution - Missense(1)	large_intestine(1)											121	121	121					19																	56243852		2203	4300	6503	SO:0001587	stop_gained	338321			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.1345C>T	19.37:g.56243852G>A	ENSP00000331857:p.Gln449*		B2RN12|Q86W27	Nonsense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950445	0.92660	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	.	.	.	2.56	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.3626	0.49653	0.0:0.0:1.0:0.0	.	.	.	.	X	449	.	ENSP00000331857:Q449X	Q	-	1	0	NLRP9	60935664	1.000000	0.71417	0.029000	0.17559	0.107000	0.19398	5.908000	0.69916	1.792000	0.52537	0.644000	0.83932	CAA		0.502	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56243852	G	A	56243852	4	1	40	1	0	0	0	0	0	1	0	0	10484	1357	47	4	1662	4	NLRP9	19	56243852	Nonsense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	5438808	56243852	2885131	66	2951											
SIRPA	140885	mdanderson.org	37	chr20	1895950	1895951	+	Missense_Mutation	DNP	CC	CC	GT																															cgggtaacaactgtttcagaCctcacaaagagaaacaacat																								rs138283486|rs149634649|rs386811661	byFrequency	TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr20:1895950_1895951CC>GT	ENST00000358771.4	+	2	437_438	c.285_286CC>GT	c.(283-288)gaCCtc>gaGTtc	p.95_96DL>EF	SIRPA_ENST00000400068.3_Missense_Mutation_p.95_96DL>EF|SIRPA_ENST00000356025.3_Missense_Mutation_p.95_96DL>EF	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	95	Ig-like V-type.		D -> E. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.|L -> S. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9062191, ECO:0000269|PubMed:9070220}.		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)		CTGTTTCAGACCTCACAAAGAG	0.53																																					GBM(155;1668 1920 5945 42733 48121)	.											0																																										SO:0001583	missense	140885			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	Exception_encountered	20.37:g.1895950_1895951delinsGT	ENSP00000351621:p.D95_L96delinsEF		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	DNP	ENST00000358771.4	37	CCDS13022.1																																																																																				0.53	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		GT	1895951	CC	GT	1895950	3	3	40	1	0	0	0	0	1	0	0	0	14332	506	18	5	291	5	SIRPA	20	1895950	Missense_Mutation	DNP	CC	TCGA-KN-8425-01A-11D-2310-10		1895950	61129570	67	2952											
EEF1A2	1917	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	62121830	62121830	+	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	tggacccagcgcagccccccAcctgggaggtgaactgagca	9	4	13	15	1	0	2	0	2	0	0	0	4	0	4	5	3	4	2	5	3	1	0			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr20:62121830A>C	ENST00000298049.7	-	5	1100		c.e5+1		EEF1A2_ENST00000217182.3_Splice_Site			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2						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)			GCAGCCCCCCACCTGGGAGGT	0.667																																						.											0													31	32	32					20																	62121830		2191	4286	6477	SO:0001630	splice_region_variant	1917			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.1029+1T>G	20.37:g.62121830A>C			B5BUF3|E1P5J1|P54266|Q0VGC7	Splice_Site	SNP	ENST00000298049.7	37	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.151031	0.38021	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.718	0.57125	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EEF1A2	61592274	1.000000	0.71417	0.805000	0.32314	0.308000	0.27856	9.102000	0.94226	1.467000	0.48044	0.398000	0.26397	.		0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958	Intron	C	62121830	A	C	62121830	5	2	40	1	0	0	0	0	0	0	1	0	4924	173	6	5	372	5	EEF1A2	20	62121830	Splice_Site	SNP	A	TCGA-KN-8425-01A-11D-2310-10	60225880	62121830	903690	68	2953											
CDC45	8318	broad.mit.edu	37	chr22	19496202	19496202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcatccaggctctggAcagcctctccaggtagcagg	8	9	10	14	0	4	0	2	0	2	0	6	1	5	1	3	4	2	3	3	4	1	2			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr22:19496202A>G	ENST00000407835.1	+	14	1461	c.1205A>G	c.(1204-1206)gAc>gGc	p.D402G	CDC45_ENST00000263201.1_Missense_Mutation_p.D402G|CDC45_ENST00000437685.2_Missense_Mutation_p.D434G|CDC45_ENST00000404724.3_Missense_Mutation_p.D356G			O75419	CDC45_HUMAN	cell division cycle 45	402					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						CAGGCTCTGGACAGCCTCTCC	0.602																																						.											0													75	61	66					22																	19496202		2203	4300	6503	SO:0001583	missense	8318			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.1205A>G	22.37:g.19496202A>G	ENSP00000385240:p.Asp402Gly		B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815394	0.90790	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	M	0.89287	3.02	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	0.996;0.999;0.996;0.996;0.996	T	0.70988	-0.4722	10	0.87932	D	0	-29.6376	16.3009	0.82811	1.0:0.0:0.0:0.0	.	434;397;356;434;402	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	G	402;434;402;356	ENSP00000385240:D402G;ENSP00000405726:D434G;ENSP00000263201:D402G;ENSP00000384978:D356G	ENSP00000263201:D402G	D	+	2	0	CDC45	17876202	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.850000	0.92190	2.246000	0.74042	0.533000	0.62120	GAC		0.602	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		G	19496202	A	G	19496202	3	3	40	1	0	0	0	0	1	0	0	0	3081	275	10	2	1355	2	CDC45	22	19496202	Missense_Mutation	SNP	A	TCGA-KN-8425-01A-11D-2310-10		19496202	31808364	69	2954											
CABIN1	23523	broad.mit.edu	37	chr22	24573681	24573681	+	Frame_Shift_Del	DEL	T	T	-																															tgccaaagctggtcatccccTccgccgccaccaagttcccc																										TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chr22:24573681delT	ENST00000398319.2	+	36	6800	c.6415delT	c.(6415-6417)tccfs	p.S2139fs	CABIN1_ENST00000337989.7_Frame_Shift_Del_p.S509fs|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.S2139fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.S2060fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2139	Required for interaction with calcineurin. {ECO:0000250}.				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						GGTCATCCCCTCCGCCGCCAC	0.662																																						.											0													72	59	63					22																	24573681		2203	4300	6503	SO:0001589	frameshift_variant	23523			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.6415delT	22.37:g.24573681delT	ENSP00000381364:p.Ser2139fs		G5E9F3|Q6PHY0|Q9Y460	Frame_Shift_Del	DEL	ENST00000398319.2	37	CCDS13823.1																																																																																				0.662	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		-	24573681	T	-	24573681	7	5	40	1	0	1	0	1	0	0	0	0	2528	1551	54	0	6553	0	CABIN1	22	24573681	Frame_Shift_Del	DEL	T	TCGA-KN-8425-01A-11D-2310-10	5077479	24573681	26730885	70	2955											
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-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	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																																					NSCLC(90;1817 2035 37909 38249)	.											2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|prostate(1)											41	35	37					X																	51075901		2203	4300	6503	SO:0001819	synonymous_variant	170685			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			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	40	1	0	0	0	0	0	0	0	1	10726	962	34	4		4	NUDT10	23	51075901	Silent	SNP	G	TCGA-KN-8425-01A-11D-2310-10		51075901	104194659	71	2956											
SLC25A5	292	mdanderson.org	37	chrX	118603729	118603729	+	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	gagttctgtccttctggcgcGgtaacctggccaatgtcatc	6	12	11	12	2	3	0	1	0	2	0	5	1	4	0	3	3	1	2	3	3	2	3	rs143413528		TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chrX:118603729G>A	ENST00000317881.8	+	2	333	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	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	73					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)	p.G73S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CTTCTGGCGCGGTAACCTGGC	0.502																																						.											1	Substitution - Missense(1)	breast(1)											150	142	145					X																	118603729		2203	4300	6503	SO:0001583	missense	292			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.217G>A	X.37:g.118603729G>A	ENSP00000360671:p.Gly73Ser		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569470	0.86439	.	.	ENSG00000005022	ENST00000317881	D	0.98164	-4.76	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.048889	0.85682	D	0.000000	D	0.99471	0.9812	H	0.99732	4.735	0.09310	P	0.999999126608	D	0.76494	0.999	D	0.74674	0.984	D	0.97692	1.0179	9	0.87932	D	0	.	15.4079	0.74893	0.0:0.0:1.0:0.0	.	73	P05141	ADT2_HUMAN	S	73	ENSP00000360671:G73S	ENSP00000360671:G73S	G	+	1	0	SLC25A5	118487757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.019000	0.59389	0.529000	0.55759	GGT		0.502	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		A	118603729	G	A	118603729	3	1	40	1	0	0	0	0	1	0	0	0	14512	1116	39	1	223	1	SLC25A5	23	118603729	Missense_Mutation	SNP	G	TCGA-KN-8425-01A-11D-2310-10	67527828	118603729	36666831	72	2957											
PCDH11Y	83259	broad.mit.edu	37	chrY	4967267	4967267	+	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	ctgaattcagcctggatcgtCgtacaggcatgctgactgta	9	11	11	10	2	1	2	1	2	0	0	3	3	1	3	1	2	3	4	1	2	3	3			TCGA-KN-8425-01A-11D-2310-10	TCGA-KN-8425-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	81bb13fc-f082-4c0b-8066-1729f11ef617	d0260f96-f7bd-41b1-b929-9451954cb3b4	g.chrY:4967267C>T	ENST00000333703.4	+	5	2128	c.1615C>T	c.(1615-1617)Cgt>Tgt	p.R539C	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R550C|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R550C	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	550	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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGGATCGTCGTACAGGCAT	0.438																																						.											0																																										SO:0001583	missense	83259			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1615C>T	Y.37:g.4967267C>T	ENSP00000330552:p.Arg539Cys		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	CCDS14776.1																																																																																				0.438	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		T	4967267	C	T	4967267	3	4	40	1	0	0	0	0	1	0	0	0	11509	884	31	1	1690	1	PCDH11Y	24	4967267	Missense_Mutation	SNP	C	TCGA-KN-8425-01A-11D-2310-10		4967267	54406299	73	2958											
LOC440563	0	broad.mit.edu	37	chr1	13183837	13183837	+	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	aacacacgggagttcacggaGtgaggatccatcttgttggt	10	10	13	8	2	2	1	1	1	1	0	3	4	3	4	1	4	1	2	1	4	1	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:13183837G>A								RP13-221M14.3 (19369 upstream) : PRAMEF26 (32518 downstream)																							AGTTCACGGAGTGAGGATCCA	0.463																																						.											0													64	48	53					1																	13183837		692	1591	2283	SO:0001628	intergenic_variant	0																															1.37:g.13183837G>A				Silent	SNP		37																																																																																				0	0.463									A	13183837	G	A	13183837	1	1	41	0	1	0	0	0	0	0	0	0	8879	1020	36	4		4	LOC440563	1	13183837	IGR	SNP	G	TCGA-KN-8426-01A-11D-2310-10		13183837	236066784	1	2959											
UBXN11	91544	mdanderson.org	37	chr1	26608849	26608849	+	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	gccgggaccgggaccgggacTggggccgggaccgggaccgg	5	1	22	13	6	0	0	0	0	0	0	0	5	0	5	6	8	0	0	6	8	0	0	rs199707978		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:26608849T>A	ENST00000374222.1	-	16	1968	c.1504A>T	c.(1504-1506)Agt>Tgt	p.S502C	UBXN11_ENST00000374217.2_Missense_Mutation_p.S469C|UBXN11_ENST00000314675.7_Missense_Mutation_p.S382C|UBXN11_ENST00000357089.4_Missense_Mutation_p.S469C|UBXN11_ENST00000374223.1_Missense_Mutation_p.S259C|UBXN11_ENST00000374221.3_Missense_Mutation_p.S502C			Q5T124	UBX11_HUMAN	UBX domain protein 11	502	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggactggggccggga	0.731																																						.											1	Deletion - In frame(1)	ovary(1)											19	22	21					1																	26608849		1706	3905	5611	SO:0001583	missense	91544			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.1504A>T	1.37:g.26608849T>A	ENSP00000363339:p.Ser502Cys		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	-	8.284	0.816212	0.16607	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.19105	2.17;2.18;2.44;2.43;2.43;2.44	.	.	.	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	0.999993	.	.	.	.	.	.	T	0.30446	-0.9978	5	0.66056	D	0.02	.	.	.	.	.	469;382;502	Q5T124-2;Q5T124-3;Q5T124	.;.;UBX11_HUMAN	C	382;259;469;502;502;469	ENSP00000324721:S382C;ENSP00000363340:S259C;ENSP00000349601:S469C;ENSP00000363338:S502C;ENSP00000363339:S502C;ENSP00000363334:S469C	ENSP00000324721:S382C	S	-	1	0	UBXN11	26481436	0.000000	0.05858	0.168000	0.22838	0.175000	0.22909	-0.694000	0.05115	0.000000	0.14550	0.000000	0.15137	AGT		0.731	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608849	T	A	26608849	3	1	41	1	0	0	0	0	1	0	0	0	16910	1580	55	5	62	5	UBXN11	1	26608849	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	13425012	26608849	222641772	2	2960											
MED8	112950	broad.mit.edu	37	chr1	43850194	43850194	+	3'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgcgccttagagggAtagccagaatgaaacccagg	12	7	11	11	1	1	3	1	1	0	2	1	4	1	4	4	2	3	0	4	2	4	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:43850194A>G	ENST00000372457.4	-	0	1369				RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000290663.6_Missense_Mutation_p.I278T	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)				CCTTAGAGGGATAGCCAGAAT	0.517																																						.											0													52	51	51					1																	43850194		2203	4300	6503	SO:0001624	3_prime_UTR_variant	112950			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	ENST00000372457.4:c.*519T>C	1.37:g.43850194A>G			A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	CCDS487.2	.	.	.	.	.	.	.	.	.	.	A	9.522	1.108487	0.20714	.	.	ENSG00000159479	ENST00000290663	.	.	.	3.85	-0.45	0.12223	.	4.155170	0.00866	N	0.001964	T	0.32645	0.0836	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.31943	-0.9925	8	0.87932	D	0	-12.3911	5.4248	0.16419	0.346:0.4871:0.0:0.1668	.	278	Q96G25-2	.	T	278	.	ENSP00000290663:I278T	I	-	2	0	MED8	43622781	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.012000	0.13287	-0.078000	0.12730	0.450000	0.29827	ATC		0.517	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		G	43850194	A	G	43850194	1	3	41	0	1	0	0	0	0	0	0	0	9453	333	12	4		4	MED8	1	43850194	3'UTR	SNP	A	TCGA-KN-8426-01A-11D-2310-10	17241345	43850194	205400427	3	2961											
SLC35D1	23169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	67486077	67486077	+	Missense_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	tacagccaactattgtagttGtaagagcagaattatactgc	14	12	8	7	0	0	2	0	0	0	2	0	2	0	2	1	0	6	4	1	0	8	8	rs143745141		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:67486077G>A	ENST00000235345.5	-	10	936	c.851C>T	c.(850-852)aCa>aTa	p.T284I	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T205I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	284					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						TATTGTAGTTGTAAGAGCAGA	0.333																																						.											0													107	106	106					1																	67486077		2203	4300	6503	SO:0001583	missense	23169			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.851C>T	1.37:g.67486077G>A	ENSP00000235345:p.Thr284Ile		A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	CCDS636.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618557	0.87460	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.71579	-0.58;-0.58	6.16	6.16	0.99307	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.87341	0.6153	M	0.93808	3.46	0.80722	D	1	D;D	0.59357	0.985;0.983	D;P	0.66716	0.946;0.873	D	0.88851	0.3319	10	0.72032	D	0.01	-12.8739	19.6313	0.95704	0.0:0.0:1.0:0.0	.	205;284	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	I	284;205	ENSP00000235345:T284I;ENSP00000445189:T205I	ENSP00000235345:T284I	T	-	2	0	SLC35D1	67258665	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.014000	0.88676	2.937000	0.99478	0.650000	0.86243	ACA		0.333	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		A	67486077	G	A	67486077	3	1	41	1	0	0	0	0	1	0	0	0	14581	1377	48	4	228	4	SLC35D1	1	67486077	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	23635883	67486077	181764544	4	2962											
CSDE1	7812	bcgsc.ca	37	chr1	115280678	115280683	+	In_Frame_Del	DEL	TTCAAA	TTCAAA	-																															tccgtcggtccgatgatactTcaaattcaacatcatctaaa																										TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	TTCAAA	TTCAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:115280678_115280683delTTCAAA	ENST00000358528.4	-	4	636_641	c.210_215delTTTGAA	c.(208-216)gatttgaaa>gaa	p.70_72DLK>E	CSDE1_ENST00000438362.2_In_Frame_Del_p.116_118DLK>E|CSDE1_ENST00000339438.6_In_Frame_Del_p.70_72DLK>E|CSDE1_ENST00000534699.1_In_Frame_Del_p.70_72DLK>E|CSDE1_ENST00000369530.1_In_Frame_Del_p.116_118DLK>E|CSDE1_ENST00000530886.1_5'UTR|CSDE1_ENST00000261443.5_In_Frame_Del_p.70_72DLK>E	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	70	CSD 1.				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)	p.F71C(1)		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)		CGATGATACTTCAAATTCAACATCAT	0.345																																						.											1	Substitution - Missense(1)	endometrium(1)																																								SO:0001651	inframe_deletion	7812				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.210_215delTTTGAA	1.37:g.115280678_115280683delTTCAAA	ENSP00000351329:p.Asp70_Lys72delinsGlu		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	In_Frame_Del	DEL	ENST00000358528.4	37	CCDS30812.1																																																																																				0.345	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		-	115280683	TTCAAA	-	115280678	7	5	41	1	0	1	0	1	0	0	0	0	3929	1783	62	0	2249	0	CSDE1	1	115280678	In_Frame_Del	DEL	TTCAAA	TCGA-KN-8426-01A-11D-2310-10	47794601	115280678	133969943	5	2963											
SHC1	6464	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	154938971	154938971	+	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	ttcctcctcctcatcccatgCtgagccatcaaagccagcca	9	9	5	18	0	2	1	2	1	0	0	6	1	6	1	7	0	4	1	7	0	1	1	rs150380146		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:154938971C>A	ENST00000368445.5	-	8	1220	c.1006G>T	c.(1006-1008)Gca>Tca	p.A336S	SHC1_ENST00000368450.1_Missense_Mutation_p.A226S|SHC1_ENST00000368449.4_Missense_Mutation_p.A107S|SHC1_ENST00000448116.2_Missense_Mutation_p.A336S|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368453.4_Missense_Mutation_p.A226S|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000606391.1_Missense_Mutation_p.A137S	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	336	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATCCCATGCTGAGCCATCA	0.567																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	.											0													19	18	18					1																	154938971		2201	4300	6501	SO:0001583	missense	6464			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1006G>T	1.37:g.154938971C>A	ENSP00000357430:p.Ala336Ser		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285670	0.59867	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000368441;ENST00000414115;ENST00000444179	T;T;T;T;T;T	0.47177	1.93;2.1;1.69;1.87;1.86;0.85	4.71	4.71	0.59529	Phosphotyrosine interaction domain (1);	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	N	0.12961	0.28	0.80722	D	1	B;P;B	0.36110	0.402;0.537;0.125	B;B;B	0.32928	0.109;0.155;0.119	T	0.10177	-1.0641	10	0.44086	T	0.13	.	17.4551	0.87605	0.0:1.0:0.0:0.0	.	115;336;336	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	S	336;336;137;226;226;272;8;89;107	ENSP00000357430:A336S;ENSP00000401303:A336S;ENSP00000357434:A137S;ENSP00000357438:A226S;ENSP00000357435:A226S;ENSP00000404908:A89S	ENSP00000357426:A8S	A	-	1	0	SHC1	153205595	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.198000	0.77823	2.442000	0.82660	0.557000	0.71058	GCA		0.567	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		A	154938971	C	A	154938971	3	1	41	1	0	0	0	0	1	0	0	0	14270	797	28	5	768	5	SHC1	1	154938971	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	39658293	154938971	94311650	6	2964											
FMO3	2328	broad.mit.edu	37	chr1	171073025	171073025	+	Missense_Mutation	SNP	T	T	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	acttcccatttcccgatgacTtccccaactttatgcacaac	10	12	3	16	1	0	1	0	1	0	0	3	2	3	1	4	0	3	1	4	0	3	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr1:171073025T>C	ENST00000367755.4	+	3	343	c.232T>C	c.(232-234)Ttc>Ctc	p.F78L	MIR1295A_ENST00000408463.1_RNA|FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Missense_Mutation_p.F58L|FMO3_ENST00000392085.2_Missense_Mutation_p.F78L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	78					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TCCCGATGACTTCCCCAACTT	0.418																																						.											0													143	131	135					1																	171073025		2203	4300	6503	SO:0001583	missense	2328			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.232T>C	1.37:g.171073025T>C	ENSP00000356729:p.Phe78Leu		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680637	0.68042	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847	T;T;T	0.57436	0.4;0.4;0.4	4.53	4.53	0.55603	.	0.226085	0.45126	D	0.000381	T	0.39253	0.1071	L	0.55103	1.725	0.46028	D	0.998824	B;B	0.22746	0.074;0.046	B;B	0.33690	0.139;0.168	T	0.43814	-0.9368	10	0.45353	T	0.12	-8.3909	13.84	0.63432	0.0:0.0:0.0:1.0	.	58;78	F5GZZ8;P31513	.;FMO3_HUMAN	L	78;78;58	ENSP00000356729:F78L;ENSP00000375935:F78L;ENSP00000444073:F58L	ENSP00000356729:F78L	F	+	1	0	FMO3	169339649	0.973000	0.33851	0.994000	0.49952	0.846000	0.48090	7.677000	0.84024	1.800000	0.52685	0.482000	0.46254	TTC		0.418	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		C	171073025	T	C	171073025	3	2	41	1	0	0	0	0	1	0	0	0	5956	1609	56	2	238	2	FMO3	1	171073025	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	16134054	171073025	78177596	7	2965											
TMEM214	54867	ucsc.edu;bcgsc.ca	37	chr2	27263695	27263695	+	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	ctgggcacttgccctgatatCccagcagtaggccctgcctt	6	10	10	15	0	0	1	0	1	0	0	1	1	1	1	4	2	3	3	4	2	2	4			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr2:27263695C>T	ENST00000238788.9	+	17	2122	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	TMEM214_ENST00000404032.3_Missense_Mutation_p.S642F	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	687					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCCCTGATATCCCAGCAGTAG	0.542																																						.											0													103	101	102					2																	27263695		2031	4193	6224	SO:0001583	missense	54867				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.2060C>T	2.37:g.27263695C>T	ENSP00000238788:p.Ser687Phe		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440509	0.83993	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397	T;T	0.54479	0.57;0.58	5.92	5.92	0.95590	.	0.138939	0.49916	D	0.000122	T	0.64994	0.2649	L	0.34521	1.04	0.43385	D	0.995492	D;P	0.89917	1.0;0.948	D;P	0.91635	0.999;0.733	T	0.66268	-0.5966	10	0.87932	D	0	-10.0855	18.0937	0.89481	0.0:1.0:0.0:0.0	.	642;687	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	F	687;642;427	ENSP00000238788:S687F;ENSP00000384417:S642F	ENSP00000238788:S687F	S	+	2	0	TMEM214	27117199	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.558000	0.60789	2.813000	0.96785	0.561000	0.74099	TCC		0.542	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		T	27263695	C	T	27263695	3	4	41	1	0	0	0	0	1	0	0	0	16134	855	30	3	2126	3	TMEM214	2	27263695	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		27263695	215935678	8	2966											
IRS1	3667	ucsc.edu	37	chr2	227659840	227659840	+	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	cccaggggttgatgagggggTgggggtgggggaggctgcgg	4	6	26	5	1	0	2	0	2	0	0	0	3	0	3	1	10	1	2	1	10	0	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr2:227659840T>G	ENST00000305123.5	-	1	4635	c.3615A>C	c.(3613-3615)ccA>ccC	p.P1205P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1205	Pro-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)		GATGAGGGGGTGGGGGTGGGG	0.577																																						.											0																																										SO:0001819	synonymous_variant	3667				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.3615A>C	2.37:g.227659840T>G				Silent	SNP	ENST00000305123.5	37	CCDS2463.1																																																																																				0.577	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		G	227659840	T	G	227659840	2	3	41	1	0	0	0	0	0	0	0	1	7840	1683	59	5		5	IRS1	2	227659840	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	200396145	227659840	15539533	9	2967											
IQCA1	79781	bcgsc.ca	37	chr2	237402454	237402454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccgctaatatttgagcaAgaattttctctcttcctttt	8	19	5	9	1	2	2	0	1	2	1	5	2	4	2	2	0	1	2	2	0	4	8			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr2:237402454A>G	ENST00000409907.3	-	3	687	c.413T>C	c.(412-414)cTt>cCt	p.L138P	IQCA1_ENST00000309507.5_Missense_Mutation_p.L134P|IQCA1_ENST00000431676.2_Missense_Mutation_p.L138P	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	138							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TATTTGAGCAAGAATTTTCTC	0.313																																						.											0													116	105	108					2																	237402454		1809	4078	5887	SO:0001583	missense	79781			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.413T>C	2.37:g.237402454A>G	ENSP00000387347:p.Leu138Pro		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835275	0.50951	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.95377	-3.57;-3.59;-3.69	5.05	5.05	0.67936	.	0.000000	0.50627	D	0.000103	D	0.97729	0.9255	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.99	D	0.98162	1.0447	10	0.54805	T	0.06	.	13.6585	0.62352	1.0:0.0:0.0:0.0	.	138;145;138	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	P	138;145;134;138;134	ENSP00000387347:L138P;ENSP00000311951:L134P;ENSP00000407213:L138P	ENSP00000254653:L138P	L	-	2	0	IQCA1	237067193	1.000000	0.71417	0.860000	0.33809	0.389000	0.30415	6.007000	0.70731	1.911000	0.55334	0.460000	0.39030	CTT		0.313	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		G	237402454	A	G	237402454	3	3	41	1	0	0	0	0	1	0	0	0	7802	72	3	2	2123	2	IQCA1	2	237402454	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	9742614	237402454	5796919	10	2968											
IGSF10	285313	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	151162874	151162874	+	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	agtcaaagggaaggagtttgGaagttgttgcttcttgaact	11	13	13	4	0	2	1	1	1	1	0	2	4	2	4	0	3	2	4	0	3	4	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:151162874G>T	ENST00000282466.3	-	4	4894	c.4895C>A	c.(4894-4896)tCc>tAc	p.S1632Y		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	1632					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)			AAGGAGTTTGGAAGTTGTTGC	0.423																																						.											0													263	233	243					3																	151162874		2203	4300	6503	SO:0001583	missense	285313			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.4895C>A	3.37:g.151162874G>T	ENSP00000282466:p.Ser1632Tyr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659181	0.67586	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.71341	-0.56	5.86	4.09	0.47781	.	0.299519	0.23924	N	0.043206	T	0.69522	0.3120	L	0.39898	1.24	0.09310	N	1	D	0.61080	0.989	P	0.55667	0.781	T	0.61362	-0.7078	10	0.72032	D	0.01	.	6.5333	0.22339	0.2142:0.1308:0.6549:0.0	.	1632	Q6WRI0	IGS10_HUMAN	Y	1632;259	ENSP00000282466:S1632Y	ENSP00000282466:S1632Y	S	-	2	0	IGSF10	152645564	0.216000	0.23585	0.008000	0.14137	0.637000	0.38172	3.111000	0.50360	0.842000	0.35045	-0.142000	0.14014	TCC		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151162874	G	T	151162874	3	4	41	1	0	0	0	0	1	0	0	0	7597	1174	41	5	3036	5	IGSF10	3	151162874	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10		151162874	46859556	11	2969											
IGSF10	285313	broad.mit.edu	37	chr3	151165623	151165623	+	Missense_Mutation	SNP	T	T	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	ccgatagttgtgcctcttacTtgtgcttgaggtgtgttttc	4	18	11	8	1	1	1	0	1	1	0	2	2	1	1	2	1	3	3	2	1	2	7			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:151165623T>C	ENST00000282466.3	-	4	2145	c.2146A>G	c.(2146-2148)Agt>Ggt	p.S716G		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	716					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)			TGCCTCTTACTTGTGCTTGAG	0.493																																						.											0													84	68	74					3																	151165623		2203	4300	6503	SO:0001583	missense	285313			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.2146A>G	3.37:g.151165623T>C	ENSP00000282466:p.Ser716Gly		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.363613	0.24684	.	.	ENSG00000152580	ENST00000282466	T	0.68765	-0.35	4.73	-0.335	0.12662	.	0.460607	0.18317	N	0.144904	T	0.46073	0.1374	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19321	-1.0309	10	0.19147	T	0.46	.	5.3033	0.15790	0.0:0.2302:0.1453:0.6245	.	716	Q6WRI0	IGS10_HUMAN	G	716	ENSP00000282466:S716G	ENSP00000282466:S716G	S	-	1	0	IGSF10	152648313	0.003000	0.15002	0.000000	0.03702	0.044000	0.14063	0.121000	0.15667	-0.197000	0.10350	-0.353000	0.07706	AGT		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151165623	T	C	151165623	3	2	41	1	0	0	0	0	1	0	0	0	7597	1609	56	2	5785	2	IGSF10	3	151165623	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	2749	151165623	46856807	12	2970											
GFM1	85476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	158363431	158363431	+	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	ttttcaggttaattggaaggCctgccgatggtcttcatcag	8	14	11	8	1	4	0	3	0	1	0	4	2	4	1	2	4	1	1	2	4	2	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:158363431C>T	ENST00000486715.1	+	2	452	c.95C>T	c.(94-96)gCc>gTc	p.A32V	GFM1_ENST00000264263.5_Missense_Mutation_p.A32V|GFM1_ENST00000478576.1_Missense_Mutation_p.A32V	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)			AATTGGAAGGCCTGCCGATGG	0.373																																						.											0													79	80	79					3																	158363431		2203	4300	6503	SO:0001583	missense	85476			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.95C>T	3.37:g.158363431C>T	ENSP00000419038:p.Ala32Val			Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144578	0.21288	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.72394	-0.07;-0.65;-0.07	5.43	-2.17	0.07059	.	1.214710	0.05439	N	0.547337	T	0.48205	0.1487	N	0.08118	0	0.36592	D	0.874181	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22487	-1.0215	10	0.30854	T	0.27	18.8337	8.1196	0.30963	0.0:0.4113:0.2638:0.3248	.	32;32	Q96RP9;C9IZ01	EFGM_HUMAN;.	V	32	ENSP00000419038:A32V;ENSP00000418755:A32V;ENSP00000264263:A32V	ENSP00000264263:A32V	A	+	2	0	GFM1	159846125	.	.	0.008000	0.14137	0.654000	0.38779	.	.	-0.366000	0.08064	0.655000	0.94253	GCC		0.373	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		T	158363431	C	T	158363431	3	4	41	1	0	0	0	0	1	0	0	0	6341	739	26	3	101	3	GFM1	3	158363431	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	7197808	158363431	39658999	13	2971											
HTR3E	285242	ucsc.edu	37	chr3	183818222	183818222	+	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	cttggggcccctctcatataGggagcacagggttgctctcc	6	10	12	13	0	2	0	1	0	2	0	4	1	2	1	3	4	2	3	3	4	2	4	rs5855015|rs397897677	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:183818222G>A	ENST00000415389.2	+	2	533				HTR3E_ENST00000440596.2_Missense_Mutation_p.R21K|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000436361.2_Missense_Mutation_p.R21K|HTR3E_ENST00000335304.2_Missense_Mutation_p.R21K|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTCTCATATAGGGAGCACAGG	0.527																																					Melanoma(7;227 727 6634 44770)	.											0													157	143	147					3																	183818222		2202	4293	6495	SO:0001627	intron_variant	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.68-51G>A	3.37:g.183818222G>A			A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	11.61	1.689815	0.29962	.	.	ENSG00000186038	ENST00000335304;ENST00000436361;ENST00000440596	T;T;T	0.78481	-1.11;-1.14;-1.18	3.73	0.45	0.16624	.	10.888600	0.00166	N	0.000004	T	0.62466	0.2430	L	0.29908	0.895	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.50583	-0.8811	10	0.02654	T	1	.	5.0949	0.14727	0.2343:0.1729:0.5928:0.0	.	21;21;21	E9PGF1;A5X5Y0-4;A5X5Y0-3	.;.;.	K	21	ENSP00000335511:R21K;ENSP00000395833:R21K;ENSP00000406050:R21K	ENSP00000335511:R21K	R	+	2	0	HTR3E	185300916	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.342000	0.19926	0.312000	0.23038	-0.150000	0.13652	AGG		0.527	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		A	183818222	G	A	183818222	1	1	41	0	1	0	0	0	0	0	0	0	7448	1000	35	4		4	HTR3E	3	183818222	Intron	SNP	G	TCGA-KN-8426-01A-11D-2310-10	25454791	183818222	14204208	14	2972											
PAK2	5062	mdanderson.org	37	chr3	196509522	196509522	+	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	ttcataattctgaatcatgtCtgataacggagaactggaag	14	12	9	6	1	4	3	2	2	2	1	4	5	4	4	0	2	2	0	0	2	5	4	rs67093638		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr3:196509522C>G	ENST00000327134.3	+	2	327	c.5C>G	c.(4-6)tCt>tGt	p.S2C	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.S2C(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		TGAATCATGTCTGATAACGGA	0.408																																						.											2	Substitution - Missense(2)	prostate(2)											81	87	85					3																	196509522		2203	4300	6503	SO:0001583	missense	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.5C>G	3.37:g.196509522C>G	ENSP00000314067:p.Ser2Cys		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	42	0.019230769230769232	6	0.012195121951219513	0	0.0	7	0.012237762237762238	29	0.03825857519788918	C	14.90	2.672409	0.47781	.	.	ENSG00000180370	ENST00000327134	T	0.70631	-0.5	5.21	5.21	0.72293	.	0.055816	0.64402	D	0.000001	T	0.30417	0.0764	N	0.25426	0.745	0.54753	D	0.999985	B	0.15141	0.012	B	0.20577	0.03	T	0.51284	-0.8725	10	0.62326	D	0.03	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	2	Q13177	PAK2_HUMAN	C	2	ENSP00000314067:S2C	ENSP00000314067:S2C	S	+	2	0	PAK2	197993919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.961000	0.49168	2.456000	0.83038	0.655000	0.94253	TCT		0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196509522	C	G	196509522	3	3	41	1	0	0	0	0	1	0	0	0	11401	913	32	5	7	5	PAK2	3	196509522	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	12691300	196509522	1512908	15	2973											
ANK2	287	broad.mit.edu	37	chr4	114278579	114278579	+	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	gaaaatgtcccttcccaatcTtttttctctagtgaagaaag	12	14	6	9	0	2	2	0	1	2	1	5	3	4	2	2	0	0	0	2	0	6	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr4:114278579T>C	ENST00000357077.4	+	38	8858	c.8805T>C	c.(8803-8805)tcT>tcC	p.S2935S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.S2902S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2935					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)		CTTCCCAATCTTTTTTCTCTA	0.398																																						.											0													170	178	175					4																	114278579		2203	4300	6503	SO:0001819	synonymous_variant	287			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.8805T>C	4.37:g.114278579T>C			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		C	114278579	T	C	114278579	2	2	41	1	0	0	0	0	0	0	0	1	621	1596	56	2		2	ANK2	4	114278579	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10		114278579	76875697	16	2974											
SPOCK3	50859	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	167656152	167656152	+	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	atcttcaatttcatcttcatCattcataatatcgtcttcat	11	19	1	10	1	9	0	6	0	3	0	10	0	9	0	0	0	0	0	0	0	3	7			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr4:167656152C>T	ENST00000357154.3	-	12	1368	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	SPOCK3_ENST00000510741.1_Missense_Mutation_p.D368N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D315N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D313N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D279N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D408N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D408N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D360N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D313N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D408N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D291N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	411	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)			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)		tcatcttcatcattcataata	0.358																																						.											0													186	176	179					4																	167656152		2203	4299	6502	SO:0001583	missense	50859			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.1231G>A	4.37:g.167656152C>T	ENSP00000349677:p.Asp411Asn		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804648	0.31961	.	.	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	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.05	5.05	0.67936	.	0.497022	0.20929	N	0.083132	T	0.70842	0.3270	L	0.27053	0.805	0.54753	D	0.999981	B;B;B;B;B;B;B	0.26635	0.155;0.081;0.155;0.155;0.048;0.081;0.048	B;B;B;B;B;B;B	0.28916	0.081;0.064;0.096;0.06;0.043;0.093;0.043	T	0.70189	-0.4940	10	0.66056	D	0.02	-34.0193	18.3629	0.90380	0.0:1.0:0.0:0.0	.	313;315;360;420;368;408;411	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	N	411;408;408;411;411;411;368;291;313;408;279;360;313;315	ENSP00000349677:D411N;ENSP00000350153:D408N;ENSP00000425570:D408N;ENSP00000420920:D411N;ENSP00000423421:D411N;ENSP00000423606:D411N;ENSP00000426716:D368N;ENSP00000444789:D291N;ENSP00000426318:D313N;ENSP00000425502:D408N;ENSP00000441396:D279N;ENSP00000411344:D360N;ENSP00000445430:D313N;ENSP00000438142:D315N	ENSP00000349677:D411N	D	-	1	0	SPOCK3	167892727	1.000000	0.71417	0.960000	0.40013	0.047000	0.14425	3.662000	0.54510	2.504000	0.84457	0.637000	0.83480	GAT		0.358	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			T	167656152	C	T	167656152	3	4	41	1	0	0	0	0	1	0	0	0	15080	826	29	4	83	4	SPOCK3	4	167656152	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	53377573	167656152	23498124	17	2975											
CBR4	84869	bcgsc.ca	37	chr4	169931136	169931136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggctttggccccttccagGtttctggcaatgaccgccag	5	10	12	14	2	1	1	0	1	1	0	2	1	2	1	5	4	0	3	5	4	1	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr4:169931136G>T	ENST00000306193.3	-	1	273	c.105C>A	c.(103-105)aaC>aaA	p.N35K	RP11-483A20.3_ENST00000506933.1_RNA|CBR4_ENST00000504480.1_Missense_Mutation_p.N35K	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	35					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		CCCCTTCCAGGTTTCTGGCAA	0.587											OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													22	26	25					4																	169931136		2203	4300	6503	SO:0001583	missense	84869			BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	25891	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 45C, member 1"					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.105C>A	4.37:g.169931136G>T	ENSP00000303525:p.Asn35Lys	1881	Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894508	0.33442	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	T;D;D	0.90385	1.82;-2.66;-2.66	5.22	-3.19	0.05171	NAD(P)-binding domain (1);	0.351943	0.31834	N	0.006988	D	0.82866	0.5130	N	0.25286	0.73	0.48135	D	0.999593	P	0.36027	0.533	B	0.41374	0.355	T	0.72047	-0.4408	9	.	.	.	.	13.5656	0.61815	0.4344:0.0:0.5656:0.0	.	35	Q8N4T8	CBR4_HUMAN	K	35;35;32	ENSP00000303525:N35K;ENSP00000427615:N35K;ENSP00000423128:N32K	.	N	-	3	2	CBR4	170167711	0.330000	0.24705	0.949000	0.38748	0.058000	0.15608	0.264000	0.18497	-0.445000	0.07159	0.491000	0.48974	AAC		0.587	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		T	169931136	G	T	169931136	3	4	41	1	0	0	0	0	1	0	0	0	2710	1252	44	5	628	5	CBR4	4	169931136	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	2274984	169931136	21223140	18	2976											
TRIO	7204	ucsc.edu	37	chr5	14369520	14369520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcctggaacaggagtacaAgagagaagaagactggtgtg	15	5	16	5	0	0	4	0	0	0	4	0	8	0	6	1	3	3	1	1	3	5	1	rs372172691		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:14369520A>G	ENST00000344204.4	+	18	3128	c.3104A>G	c.(3103-3105)aAg>aGg	p.K1035R	TRIO_ENST00000537187.1_Missense_Mutation_p.K1035R|TRIO_ENST00000509967.2_Missense_Mutation_p.K986R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1035					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)					CAGGAGTACAAGAGAGAAGAA	0.582																																						.											0								A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	81	86	84		3104	5.8	1	5		84	0,8600		0,0,4300	no	missense	TRIO	NM_007118.2	26	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	1035/3098	14369520	1,13005	2203	4300	6503	SO:0001583	missense	7204			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.3104A>G	5.37:g.14369520A>G	ENSP00000339299:p.Lys1035Arg		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508381	0.27036	2.27E-4	0.0	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.61980	0.06;0.08;0.65	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	N	0.02697	-0.525	0.58432	D	0.999999	B;B;D	0.69078	0.007;0.012;0.997	B;B;D	0.73380	0.005;0.028;0.98	T	0.55068	-0.8198	10	0.02654	T	1	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	986;1035;1035	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	R	1035;1035;986;722	ENSP00000339299:K1035R;ENSP00000446348:K1035R;ENSP00000445592:K986R	ENSP00000339299:K1035R	K	+	2	0	TRIO	14422520	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.348000	0.66004	2.231000	0.72958	0.460000	0.39030	AAG		0.582	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14369520	A	G	14369520	3	3	41	1	0	0	0	0	1	0	0	0	16549	72	3	2	3174	2	TRIO	5	14369520	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10		14369520	166545740	19	2977											
ADAMTS6	11174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	64468715	64468715	+	5'UTR	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	gcagcggcccaaactgcagcGgatgcggacaggaggtttgc	9	5	16	11	3	0	0	0	0	0	0	0	3	0	3	1	5	6	3	1	5	1	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:64468715G>A	ENST00000314351.5	-	0	690							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1011C(1)|p.R182C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAACTGCAGCGGATGCGGACA	0.552																																						.											2	Substitution - Missense(2)	breast(2)											135	119	124					5																	64468715		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-632C>T	5.37:g.64468715G>A			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000314351.5	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.828316	0.90955	.	.	ENSG00000049192	ENST00000381055	T	0.61158	0.13	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.80518	0.4638	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82018	-0.0665	10	0.54805	T	0.06	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	1011	Q9UKP5	ATS6_HUMAN	C	1011	ENSP00000370443:R1011C	ENSP00000370443:R1011C	R	-	1	0	ADAMTS6	64504471	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.692000	0.91855	0.650000	0.86243	CGC		0.552	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		A	64468715	G	A	64468715	1	1	41	0	1	0	0	0	0	0	0	0	270	1116	39	1		1	ADAMTS6	5	64468715	5'UTR	SNP	G	TCGA-KN-8426-01A-11D-2310-10	50099195	64468715	116446545	20	2978											
AGGF1	55109	hgsc.bcm.edu;ucsc.edu	37	chr5	76326664	76326664	+	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	ccgagcctgagctggcccagCtaaggcggaaggtggagaag	10	4	17	10	2	0	2	0	1	0	1	0	5	0	3	3	5	3	2	3	5	3	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:76326664C>T	ENST00000312916.7	+	1	455	c.73C>T	c.(73-75)Cta>Tta	p.L25L	AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Silent_p.L25L	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	25					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GCTGGCCCAGCTAAGGCGGAA	0.692																																						.											0													34	33	33					5																	76326664		2202	4298	6500	SO:0001819	synonymous_variant	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.73C>T	5.37:g.76326664C>T			O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	CCDS4035.1																																																																																				0.692	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		T	76326664	C	T	76326664	2	4	41	1	0	0	0	0	0	0	0	1	382	796	28	4		4	AGGF1	5	76326664	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10	11857949	76326664	104588596	21	2979											
DTWD2	285605	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	118324112	118324112	+	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	ccggcactgcgccgccctccCgccgctccttgtcgttcggc	1	8	11	21	7	0	0	0	0	0	0	4	0	2	0	6	2	1	3	6	2	0	2			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:118324112C>A	ENST00000510708.1	-	1	128	c.95G>T	c.(94-96)cGg>cTg	p.R32L	DTWD2_ENST00000304058.4_5'Flank|DTWD2_ENST00000515439.3_Missense_Mutation_p.R32L	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	32										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GCCGCCCTCCCGCCGCTCCTT	0.726											OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													9	12	11					5																	118324112		2120	4225	6345	SO:0001583	missense	285605				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.95G>T	5.37:g.118324112C>A	ENSP00000425048:p.Arg32Leu	1487		Missense_Mutation	SNP	ENST00000510708.1	37	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266785	0.40095	.	.	ENSG00000169570	ENST00000510708;ENST00000515439	.	.	.	5.56	-2.1	0.07210	.	1.581510	0.03198	N	0.174314	T	0.28333	0.0700	N	0.24115	0.695	0.09310	N	1	B	0.28636	0.218	B	0.23275	0.045	T	0.16748	-1.0392	9	0.54805	T	0.06	-9.157	6.7753	0.23617	0.0:0.4438:0.2112:0.345	.	32	Q8NBA8	DTWD2_HUMAN	L	32	.	ENSP00000425016:R32L	R	-	2	0	DTWD2	118352011	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.879000	0.01629	-1.251000	0.02494	-1.814000	0.00607	CGG		0.726	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		A	118324112	C	A	118324112	3	1	41	1	0	0	0	0	1	0	0	0	4792	652	23	5	825	5	DTWD2	5	118324112	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	41997448	118324112	62591148	22	2980											
MYOT	9499	broad.mit.edu	37	chr5	137221866	137221866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcttttctggaaaagaaAtaatgaaatggtacaattca	19	11	7	4	0	2	2	1	1	1	1	2	3	2	3	0	2	2	2	0	2	8	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:137221866A>G	ENST00000239926.4	+	8	1528	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	MYOT_ENST00000515645.1_Missense_Mutation_p.N270S|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.N201S|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	385	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGAAAAGAAATAATGAAATG	0.348																																						.											0													79	84	82					5																	137221866		2203	4300	6503	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1154A>G	5.37:g.137221866A>G	ENSP00000239926:p.Asn385Ser		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080318	0.76528	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.50548	0.74;0.74;0.74	5.18	3.99	0.46301	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.152498	0.43416	N	0.000575	T	0.52500	0.1738	M	0.69823	2.125	0.54753	D	0.999983	P	0.52170	0.951	P	0.47134	0.539	T	0.57476	-0.7805	10	0.72032	D	0.01	.	11.4831	0.50337	0.8651:0.0:0.0:0.1349	.	385	Q9UBF9	MYOTI_HUMAN	S	385;201;270	ENSP00000239926:N385S;ENSP00000391185:N201S;ENSP00000426281:N270S	ENSP00000239926:N385S	N	+	2	0	MYOT	137249765	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	8.873000	0.92357	0.886000	0.36113	0.482000	0.46254	AAT		0.348	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		G	137221866	A	G	137221866	3	3	41	1	0	0	0	0	1	0	0	0	10094	101	4	4	1180	4	MYOT	5	137221866	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	18897754	137221866	43693394	23	2981											
PSD2	84249	broad.mit.edu	37	chr5	139189307	139189307	+	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	aacattctggaagattcagcGgagtccaggccctggagggc	10	7	14	10	1	2	1	1	0	1	1	3	4	3	4	2	5	2	0	2	5	2	2	rs146390261	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:139189307G>A	ENST00000274710.3	+	2	487	c.282G>A	c.(280-282)gcG>gcA	p.A94A		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	94					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATTCAGCGGAGTCCAGGC	0.617																																						.											0								G		0,4406		0,0,2203	88	93	92		282	-2.4	0	5	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PSD2	NM_032289.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		94/772	139189307	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.282G>A	5.37:g.139189307G>A			D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																				0.617	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		A	139189307	G	A	139189307	2	1	41	1	0	0	0	0	0	0	0	1	12647	1103	39	1		1	PSD2	5	139189307	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	1967441	139189307	41725953	24	2982											
PCDHA11	56138	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	140250883	140250883	+	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	gcccactgagggcgcgtgcgCgccggggaagcccacgctgg	5	3	18	15	6	0	1	0	1	0	0	0	2	0	2	3	4	2	1	3	4	1	0			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:140250883C>T	ENST00000398640.2	+	1	2195	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	732					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCGCGCCGGGGAAG	0.677																																						.											0													30	32	31					5																	140250883		2202	4298	6500	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2195C>T	5.37:g.140250883C>T	ENSP00000381636:p.Ala732Val		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	T	6.697	0.497309	0.12762	.	.	ENSG00000249158	ENST00000398640	T	0.12672	2.66	4.6	-1.85	0.07784	.	.	.	.	.	T	0.09423	0.0232	L	0.43152	1.355	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.002	T	0.34229	-0.9837	9	0.37606	T	0.19	.	2.5779	0.04811	0.1352:0.3466:0.2825:0.2358	.	732;732	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	732	ENSP00000381636:A732V	ENSP00000381636:A732V	A	+	2	0	PCDHA11	140231067	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.005000	0.13129	-0.915000	0.03823	-1.968000	0.00466	GCG		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		T	140250883	C	T	140250883	3	4	41	1	0	0	0	0	1	0	0	0	11521	768	27	1	2197	1	PCDHA11	5	140250883	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	1061576	140250883	40664377	25	2983											
TCOF1	6949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	149773014	149773014	+	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	agccactcccaagctagactCcagcccctcagtttcctcta	9	9	5	18	0	2	1	1	0	1	1	5	1	5	1	6	0	3	2	6	0	3	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr5:149773014C>G	ENST00000504761.2	+	23	3680	c.3680C>G	c.(3679-3681)tCc>tGc	p.S1227C	TCOF1_ENST00000323668.7_Missense_Mutation_p.S1150C|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1228C|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1227C|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1190C|TCOF1_ENST00000445265.2_Missense_Mutation_p.S1151C|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1264C			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1227					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)			AAGCTAGACTCCAGCCCCTCA	0.542																																						.											0													85	81	83					5																	149773014		2203	4300	6503	SO:0001583	missense	6949				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.3680C>G	5.37:g.149773014C>G	ENSP00000421655:p.Ser1227Cys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414686	0.42817	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	4.08	2.22	0.28083	.	1.237860	0.05884	N	0.627080	T	0.52289	0.1725	N	0.19112	0.55	0.09310	N	1	P;P;P;D;P	0.56521	0.924;0.924;0.924;0.976;0.924	P;P;P;P;P	0.52856	0.634;0.634;0.634;0.711;0.634	T	0.43032	-0.9416	10	0.48119	T	0.1	0.3147	6.0194	0.19620	0.0:0.7543:0.0:0.2457	.	1190;1150;1189;1227;1151	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	C	1264;1228;1151;1150;1190;1189;1227;1227	ENSP00000400939:S1264C;ENSP00000367028:S1228C;ENSP00000409944:S1151C;ENSP00000325223:S1150C;ENSP00000406888:S1190C;ENSP00000390717:S1189C;ENSP00000421655:S1227C;ENSP00000427484:S1227C	ENSP00000325223:S1150C	S	+	2	0	TCOF1	149753207	0.000000	0.05858	0.003000	0.11579	0.181000	0.23173	0.195000	0.17155	0.631000	0.30412	0.561000	0.74099	TCC		0.542	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		G	149773014	C	G	149773014	3	3	41	1	0	0	0	0	1	0	0	0	15705	855	30	5	3795	5	TCOF1	5	149773014	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	9522131	149773014	31142246	26	2984											
RIPPLY2	134701	broad.mit.edu	37	chr6	84567032	84567032	+	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	agctcttctgaaaaattttcCaattcaagccacaatttcat	14	14	3	10	0	4	1	2	1	2	0	5	1	5	1	2	0	2	1	2	0	5	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr6:84567032C>A	ENST00000369689.1	+	4	462	c.311C>A	c.(310-312)cCa>cAa	p.P104Q	CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank|RIPPLY2_ENST00000369687.1_Missense_Mutation_p.P46Q	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	104	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						AAAAATTTTCCAATTCAAGCC	0.299																																						.											0													50	57	54					6																	84567032		2203	4291	6494	SO:0001583	missense	134701			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.311C>A	6.37:g.84567032C>A	ENSP00000358703:p.Pro104Gln		Q5TAB6	Missense_Mutation	SNP	ENST00000369689.1	37	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120432	0.77323	.	.	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.64	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.82056	2.57	0.80722	D	1	D	0.71674	0.998	P	0.56474	0.799	T	0.77472	-0.2575	9	0.87932	D	0	-17.6487	16.1544	0.81646	0.1343:0.8657:0.0:0.0	.	104	Q5TAB7	RIPP2_HUMAN	Q	104;46	.	ENSP00000358701:P46Q	P	+	2	0	RIPPLY2	84623751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.910000	0.75741	1.606000	0.50161	0.650000	0.86243	CCA		0.299	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		A	84567032	C	A	84567032	3	1	41	1	0	0	0	0	1	0	0	0	13385	594	21	5	325	5	RIPPLY2	6	84567032	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		84567032	86548035	27	2985											
PNRC1	10957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	89793802	89793802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagtgatccaccttctcctAgtgttcttccaaagcctcct	7	15	5	14	0	2	1	0	1	2	0	6	1	5	1	6	0	1	1	6	0	3	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr6:89793802A>G	ENST00000336032.3	+	2	988	c.871A>G	c.(871-873)Agt>Ggt	p.S291G	PNRC1_ENST00000354922.3_Missense_Mutation_p.S106G|PNRC1_ENST00000369472.1_Missense_Mutation_p.S106G	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		ACCTTCTCCTAGTGTTCTTCC	0.413										Multiple Myeloma(7;0.094)																												.											0													81	84	83					6																	89793802		2203	4300	6503	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.871A>G	6.37:g.89793802A>G	ENSP00000336931:p.Ser291Gly		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952621	0.73787	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.58358	0.52;0.34;0.52	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.75777	2.31	0.54753	D	0.999985	D	0.89917	1.0	D	0.85130	0.997	T	0.72616	-0.4239	10	0.87932	D	0	-8.9899	15.3712	0.74568	1.0:0.0:0.0:0.0	.	291	Q12796	PNRC1_HUMAN	G	106;291;106	ENSP00000358484:S106G;ENSP00000336931:S291G;ENSP00000347000:S106G	ENSP00000336931:S291G	S	+	1	0	PNRC1	89850521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.473000	0.73572	2.008000	0.58898	0.533000	0.62120	AGT		0.413	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		G	89793802	A	G	89793802	3	3	41	1	0	0	0	0	1	0	0	0	12174	420	15	2	877	2	PNRC1	6	89793802	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	5226770	89793802	81321265	28	2986											
SLC29A4	222962	mdanderson.org	37	chr7	5338714	5338714	+	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	ggggcctacatgcgctttgaTgtgccgcggccaagggtcca	6	8	15	12	3	0	1	0	1	0	0	1	1	1	1	4	4	3	1	4	4	2	2	rs6950111	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr7:5338714T>C	ENST00000396872.3	+	8	1139	c.978T>C	c.(976-978)gaT>gaC	p.D326D	SLC29A4_ENST00000406453.3_Silent_p.D312D|SLC29A4_ENST00000297195.4_Silent_p.D326D			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	326					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TGCGCTTTGATGTGCCGCGGC	0.716													C|||	1447	0.288938	0.5151	0.2795	5008	,	,		13632	0.12		0.3052	False		,,,				2504	0.1472					.											0								C	,	1951,2423		439,1073,675	12	17	15		978,978	-5.9	0	7	dbSNP_116	15	2915,5669		503,1909,1880	no	coding-synonymous,coding-synonymous	SLC29A4	NM_001040661.1,NM_153247.2	,	942,2982,2555	CC,CT,TT		33.9585,44.6045,37.5521	,	326/531,326/531	5338714	4866,8092	2187	4292	6479	SO:0001819	synonymous_variant	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.978T>C	7.37:g.5338714T>C			Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	CCDS5340.1																																																																																				0.716	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		C	5338714	T	C	5338714	2	2	41	1	0	0	0	0	0	0	0	1	14537	1461	51	4		4	SLC29A4	7	5338714	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10		5338714	153799949	29	2987											
OSBPL3	26031	broad.mit.edu	37	chr7	24931999	24931999	+	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	catgagttaaactttacctgTcgacttccttgcttggaaga	10	14	8	9	1	0	2	0	1	0	1	2	4	1	3	2	1	3	2	2	1	4	6			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr7:24931999T>C	ENST00000313367.2	-	2	544	c.93A>G	c.(91-93)cgA>cgG	p.R31R	OSBPL3_ENST00000353930.1_Silent_p.R31R|OSBPL3_ENST00000352860.1_Silent_p.R31R|OSBPL3_ENST00000409069.1_Silent_p.R31R|OSBPL3_ENST00000396429.1_Silent_p.R31R|OSBPL3_ENST00000396431.1_Silent_p.R31R|OSBPL3_ENST00000431825.2_Silent_p.R31R	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	31					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACTTTACCTGTCGACTTCCTT	0.408																																						.											0													109	92	98					7																	24931999		2203	4300	6503	SO:0001819	synonymous_variant	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.93A>G	7.37:g.24931999T>C			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	CCDS5390.1																																																																																				0.408	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			C	24931999	T	C	24931999	2	2	41	1	0	0	0	0	0	0	0	1	11279	1654	58	2		2	OSBPL3	7	24931999	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	19593285	24931999	134206664	30	2988											
MUC17	140453	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	100677675	100677675	+	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	aagcacacctgtcagccacaCgctggtggccaattctgagg	10	7	11	13	1	2	1	1	1	1	0	2	1	2	1	3	3	2	2	3	3	2	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr7:100677675C>T	ENST00000306151.4	+	3	3042	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	993	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)					GTCAGCCACACGCTGGTGGCC	0.512																																						.											0													355	318	331					7																	100677675		2203	4300	6503	SO:0001583	missense	140453			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.2978C>T	7.37:g.100677675C>T	ENSP00000302716:p.Thr993Met		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.825581	0.00071	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.373	-0.746	0.11095	.	.	.	.	.	T	0.01489	0.0048	L	0.29908	0.895	0.09310	N	1	D	0.54772	0.968	B	0.31812	0.136	T	0.40496	-0.9560	8	0.39692	T	0.17	.	.	.	.	.	993	Q685J3	MUC17_HUMAN	M	993	ENSP00000302716:T993M	ENSP00000302716:T993M	T	+	2	0	MUC17	100464395	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-3.214000	0.00213	-3.604000	0.00028	ACG		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677675	C	T	100677675	3	4	41	1	0	0	0	0	1	0	0	0	9974	536	19	1	2988	1	MUC17	7	100677675	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	75745676	100677675	58460988	31	2989											
HBP1	26959	broad.mit.edu	37	chr7	106827076	106827076	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgttgaagattttgctAgagctgaaggctgtgataat	13	13	12	3	0	0	6	0	3	0	3	0	6	0	6	0	1	2	4	0	1	5	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr7:106827076A>G	ENST00000222574.4	+	6	901	c.715A>G	c.(715-717)Aga>Gga	p.R239G	HBP1_ENST00000468410.1_Missense_Mutation_p.R239G|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.R239G	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	239	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AGATTTTGCTAGAGCTGAAGG	0.358																																						.											0													150	146	147					7																	106827076		2203	4300	6503	SO:0001583	missense	26959			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.715A>G	7.37:g.106827076A>G	ENSP00000222574:p.Arg239Gly		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.062021	0.55432	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99080	-5.4;-5.4;-5.4	5.95	3.5	0.40072	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.353809	0.39475	N	0.001345	D	0.97589	0.9210	L	0.46157	1.445	0.44652	D	0.997631	B;B;B	0.24092	0.097;0.053;0.066	B;B;B	0.32677	0.15;0.054;0.09	D	0.94990	0.8133	10	0.66056	D	0.02	-2.4346	12.8743	0.57982	0.7431:0.2569:0.0:0.0	.	249;239;239	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	G	239;239;239;231	ENSP00000420500:R239G;ENSP00000222574:R239G;ENSP00000418738:R239G	ENSP00000222574:R239G	R	+	1	2	HBP1	106614312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.231000	0.65327	0.462000	0.27095	0.528000	0.53228	AGA		0.358	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		G	106827076	A	G	106827076	3	3	41	1	0	0	0	0	1	0	0	0	6985	412	15	2	733	2	HBP1	7	106827076	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	6149401	106827076	52311587	32	2990											
RP1L1	94137	mdanderson.org	37	chr8	10465962	10465962	+	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	tcttctgactctggctgggcCtctccttctgcctctggggc	1	14	11	15	0	6	1	0	1	6	0	7	1	6	1	3	4	1	1	3	4	0	2	rs111646478	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:10465962C>A	ENST00000382483.3	-	4	5869	c.5646G>T	c.(5644-5646)gaG>gaT	p.E1882D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1962					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)		CTGGCTGGGCCTCTCCTTCTG	0.617													C|||	159	0.0317492	0.0061	0.0548	5008	,	,		16897	0.001		0.0805	False		,,,				2504	0.0317					.											0													156	173	168					8																	10465962		1942	4150	6092	SO:0001583	missense	94137			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.5646G>T	8.37:g.10465962C>A	ENSP00000371923:p.Glu1882Asp		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530264	0.13127	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	1.4	-2.79	0.05841	.	.	.	.	.	T	0.04861	0.0131	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.44267	-0.9339	9	0.23891	T	0.37	.	7.224	0.26005	0.6018:0.3982:0.0:0.0	.	1882	A6NKC6	.	D	1882	ENSP00000371923:E1882D	ENSP00000371923:E1882D	E	-	3	2	RP1L1	10503372	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-3.895000	0.00340	-0.232000	0.09811	-0.516000	0.04426	GAG		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10465962	C	A	10465962	3	1	41	1	0	0	0	0	1	0	0	0	13533	680	24	5	1560	5	RP1L1	8	10465962	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		10465962	135898060	33	2991			1	30		2	2	29	N	T_C	8.140064e-05
RP1L1	94137	mdanderson.org	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-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	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					.											0													162	175	171					8																	10465990		1917	4128	6045	SO:0001583	missense	94137			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		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	41	1	0	0	0	0	1	0	0	0	13533	1435	50	4	1588	4	RP1L1	8	10465990	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	28	10465990	135898032	34	2992			1	30		2	2	29	N	T_C	8.140064e-05
PREX2	80243	broad.mit.edu	37	chr8	68939495	68939495	+	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	ggacggaagaacacagatgtTcccttggaaggatatttagt	13	10	12	6	1	0	2	0	0	0	2	1	6	1	6	1	4	1	1	1	4	5	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:68939495T>C	ENST00000288368.4	+	5	757	c.480T>C	c.(478-480)gtT>gtC	p.V160V	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	160	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						ACACAGATGTTCCCTTGGAAG	0.358																																						.											0													144	136	139					8																	68939495		2203	4300	6503	SO:0001819	synonymous_variant	80243			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.480T>C	8.37:g.68939495T>C			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																				0.358	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		C	68939495	T	C	68939495	2	2	41	1	0	0	0	0	0	0	0	1	12477	1770	62	4		4	PREX2	8	68939495	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	58473505	68939495	77424527	35	2993											
FLJ43860	389690	broad.mit.edu	37	chr8	142500306	142500306	+	RNA	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	tctccagatgctgcgccaccAcccgccacgagtgcctgcag	7	6	10	18	3	1	1	0	0	1	1	2	2	1	1	6	0	4	2	6	0	0	0	rs199659351		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:142500306A>C	ENST00000430863.1	-	0	688					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTGCGCCACCACCCGCCACGA	0.662																																						.											0													24	31	29					8																	142500306		2050	4191	6241			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142500306A>C				Missense_Mutation	SNP	ENST00000430863.1	37																																																																																					0.662	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		C	142500306	A	C	142500306	1	2	41	0	1	0	0	0	0	0	0	0	5930	159	6	5		5	FLJ43860	8	142500306	RNA	SNP	A	TCGA-KN-8426-01A-11D-2310-10	73560811	142500306	3863716	36	2994											
CYP11B1	1584	mdanderson.org	37	chr8	143957661	143957661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgccggcctgaccgtgTccacgctccctgcagtgagt	4	10	13	14	3	0	2	0	2	0	0	2	2	2	2	5	2	2	3	5	2	0	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr8:143957661T>C	ENST00000292427.4	-	5	982	c.950A>G	c.(949-951)gAc>gGc	p.D317G	CYP11B1_ENST00000377675.3_Missense_Mutation_p.D388G|CYP11B1_ENST00000517471.1_Missense_Mutation_p.D317G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	317					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCTGACCGTGTCCACGCTCCC	0.622									Familial Hyperaldosteronism type I																													.											0													111	95	101					8																	143957661		2203	4300	6503	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.950A>G	8.37:g.143957661T>C	ENSP00000292427:p.Asp317Gly		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.291611	0.40494	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73258	-0.73;2.26;-0.73	4.1	4.1	0.47936	.	0.123831	0.35870	N	0.002927	D	0.84288	0.5439	M	0.87269	2.87	0.54753	D	0.99998	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.75484	0.986;0.974;0.965	D	0.86624	0.1881	10	0.87932	D	0	.	11.3146	0.49383	0.0:0.0:0.0:1.0	.	388;317;317	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	G	317;317;388	ENSP00000292427:D317G;ENSP00000428043:D317G;ENSP00000366903:D388G	ENSP00000292427:D317G	D	-	2	0	CYP11B1	143954663	1.000000	0.71417	0.945000	0.38365	0.040000	0.13550	1.884000	0.39668	1.608000	0.50180	0.528000	0.53228	GAC		0.622	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			C	143957661	T	C	143957661	3	2	41	1	0	0	0	0	1	0	0	0	4145	1667	58	2	581	2	CYP11B1	8	143957661	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	1457355	143957661	2406361	37	2995											
FBXO18	84893	bcgsc.ca	37	chr10	5978506	5978506	+	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	gacagtgcaacaatgccatcCctgttgacaccgtccttacc	10	9	7	15	1	0	1	0	1	0	0	2	2	2	1	5	0	4	2	5	0	3	2			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr10:5978506C>T	ENST00000362091.4	+	20	3032	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	FBXO18_ENST00000379999.5_Missense_Mutation_p.P1024S|FBXO18_ENST00000397269.3_Missense_Mutation_p.P477S|RP11-536K7.3_ENST00000397264.4_RNA	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	973					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						CAATGCCATCCCTGTTGACAC	0.488																																						.											0													209	126	154					10																	5978506		2203	4300	6503	SO:0001583	missense	84893			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.2917C>T	10.37:g.5978506C>T	ENSP00000355415:p.Pro973Ser		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	.	6.350	0.432713	0.12045	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	4.87	3.95	0.45737	.	0.489595	0.21027	N	0.081408	T	0.23014	0.0556	N	0.04508	-0.205	0.32363	N	0.556835	B;B;B	0.21147	0.052;0.031;0.013	B;B;B	0.21151	0.033;0.015;0.015	T	0.16778	-1.0391	9	0.10636	T	0.68	-7.8564	11.9015	0.52687	0.0:0.9126:0.0:0.0874	.	1024;973;899	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	S	477;973;1024	.	ENSP00000355415:P973S	P	+	1	0	FBXO18	6018512	0.999000	0.42202	0.997000	0.53966	0.717000	0.41224	2.003000	0.40844	2.403000	0.81681	0.454000	0.30748	CCT		0.488	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		T	5978506	C	T	5978506	3	4	41	1	0	0	0	0	1	0	0	0	5731	623	22	3	3157	3	FBXO18	10	5978506	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		5978506	129556241	38	2996											
SVIL	6840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	29759270	29759270	+	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	tgggcctgggctttgcatccGtgccacaggtagatgagggc	6	9	16	10	1	0	2	0	1	0	1	1	2	1	2	3	4	2	3	3	4	1	2	rs201300228		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr10:29759270G>A	ENST00000355867.4	-	32	6530	c.5778C>T	c.(5776-5778)caC>caT	p.H1926H	PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Silent_p.H840H|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.H1500H|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Silent_p.H1926H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1926					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)				CTTTGCATCCGTGCCACAGGT	0.567													G|||	1	0.000199681	0	0	5008	,	,		19719	0		0.001	False		,,,				2504	0					.											0													198	163	175					10																	29759270		2203	4300	6503	SO:0001819	synonymous_variant	6840			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.5778C>T	10.37:g.29759270G>A			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																				0.567	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29759270	G	A	29759270	2	1	41	1	0	0	0	0	0	0	0	1	15418	1136	40	1		1	SVIL	10	29759270	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	23780764	29759270	105775477	39	2997											
ITGB1	3688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	33218830	33218830	+	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	gcttctctgctgttcctttgCtacggttggttacattttta	4	20	8	9	1	1	0	0	0	1	0	3	0	2	0	1	2	4	6	1	2	3	9			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr10:33218830C>T	ENST00000396033.2	-	4	431	c.296G>A	c.(295-297)aGc>aAc	p.S99N	ITGB1_ENST00000302278.3_Missense_Mutation_p.S99N|ITGB1_ENST00000374956.4_Missense_Mutation_p.S99N|ITGB1_ENST00000423113.1_Missense_Mutation_p.S99N|ITGB1_ENST00000484088.1_5'UTR	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	99					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGTTCCTTTGCTACGGTTGGT	0.413																																						.											0													338	326	330					10																	33218830		2203	4300	6503	SO:0001583	missense	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.296G>A	10.37:g.33218830C>T	ENSP00000379350:p.Ser99Asn		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643371	0.29246	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956;ENST00000480226;ENST00000474568;ENST00000488494;ENST00000534049;ENST00000437302;ENST00000475184;ENST00000528877	D;D;D;D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.49	4.59	0.56863	Integrin beta subunit, N-terminal (2);	0.150804	0.64402	D	0.000008	T	0.80105	0.4562	N	0.11364	0.135	0.23506	N	0.997538	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.64888	-0.6301	10	0.27082	T	0.32	.	4.0811	0.09927	0.1704:0.5843:0.0:0.2452	.	99;99;99;99;99	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	N	99;99;99;99;99;42;102;99;99;99;99	ENSP00000379350:S99N;ENSP00000388694:S99N;ENSP00000303351:S99N;ENSP00000364094:S99N;ENSP00000417537:S99N;ENSP00000420282:S42N;ENSP00000418725:S102N;ENSP00000431326:S99N;ENSP00000398029:S99N;ENSP00000417243:S99N;ENSP00000436214:S99N	ENSP00000303351:S99N	S	-	2	0	ITGB1	33258836	0.475000	0.25894	0.981000	0.43875	0.993000	0.82548	0.396000	0.20867	1.318000	0.45170	0.591000	0.81541	AGC		0.413	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		T	33218830	C	T	33218830	3	4	41	1	0	0	0	0	1	0	0	0	7890	797	28	4	2390	4	ITGB1	10	33218830	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	3459560	33218830	102315917	40	2998											
MUC2	4583	mdanderson.org	37	chr11	1093569	1093569	+	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	gtgacacccatcaccaccacAactacggtgaccgcaacccc	12	4	6	19	2	1	2	1	2	0	0	1	2	1	2	6	1	3	1	6	1	3	1	rs72842460	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:1093569A>C	ENST00000441003.2	+	30	5415	c.5388A>C	c.(5386-5388)acA>acC	p.T1796T	MUC2_ENST00000333592.6_Silent_p.T84T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1752T	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)	tcaccaccacaactacGGTGA	0.587																																						.											0													87	116	106					11																	1093569		2190	4268	6458	SO:0001819	synonymous_variant	4583			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.5388A>C	11.37:g.1093569A>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.587	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093569	A	C	1093569	2	2	41	1	0	0	0	0	0	0	0	1	9975	117	5	5		5	MUC2	11	1093569	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10		1093569	133912947	41	2999											
TH	7054	bcgsc.ca	37	chr11	2190951	2190951	+	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	ggagaagagcaggtttagcaCggccttcccctccttctcct	7	10	10	14	1	1	2	0	0	1	2	4	3	3	2	5	3	2	3	5	3	2	4	rs6356	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:2190951C>T	ENST00000381178.1	-	3	352	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	TH_ENST00000352909.3_Missense_Mutation_p.V81M|TH_ENST00000333684.5_Missense_Mutation_p.V85M|TH_ENST00000381175.1_Missense_Mutation_p.V108M	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	112			V -> M (common polymorphism; dbSNP:rs6356). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21940685, ECO:0000269|PubMed:7789962, ECO:0000269|PubMed:9613851}.		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)	AGGTTTAGCACGGCCTTCCCC	0.697													C|||	2156	0.430511	0.1014	0.3919	5008	,	,		15378	0.7877		0.4026	False		,,,				2504	0.5634					.											0								C	MET/VAL,MET/VAL,MET/VAL	623,3779	265.6+/-266.7	36,551,1614	58	60	60	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	241,334,322	-1.8	0	11	dbSNP_52	60	3121,5477	472.4+/-368.3	569,1983,1747	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	21,21,21	605,2534,3361	TT,TC,CC		36.2991,14.1527,28.8	benign,benign,benign	81/498,112/529,108/525	2190951	3744,9256	2201	4299	6500	SO:0001583	missense	7054			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.334G>A	11.37:g.2190951C>T	ENSP00000370571:p.Val112Met		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	913	0.41804029304029305	52	0.10569105691056911	127	0.35082872928176795	443	0.7744755244755245	291	0.3839050131926121	C	13.68	2.310931	0.40895	0.141527	0.362991	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	3.59	-1.8	0.07907	.	0.577810	0.17552	N	0.170143	T	0.00012	0.0000	L	0.31664	0.95	0.80722	P	0.0	B;B;B;B;B	0.24576	0.037;0.037;0.044;0.016;0.106	B;B;B;B;B	0.21151	0.006;0.006;0.02;0.005;0.033	T	0.41662	-0.9496	9	0.33141	T	0.24	.	4.7289	0.12955	0.0:0.2915:0.2918:0.4167	rs6356;rs57599796;rs6356	85;81;81;112;108	Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;TY3H_HUMAN;.	M	112;108;81;85	ENSP00000370571:V112M;ENSP00000370567:V108M;ENSP00000325951:V81M;ENSP00000328814:V85M	ENSP00000328814:V85M	V	-	1	0	TH	2147527	0.000000	0.05858	0.000000	0.03702	0.948000	0.59901	-0.327000	0.07955	-0.189000	0.10482	0.491000	0.48974	GTG		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2190951	C	T	2190951	3	4	41	1	0	0	0	0	1	0	0	0	15835	536	19	1	1300	1	TH	11	2190951	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	1097382	2190951	132815565	42	3000											
OR51M1	390059	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	5411028	5411028	+	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	tcctcatgatgtcctttgacCgccttgtggccatctgccac	5	13	8	15	1	2	2	1	2	1	0	4	2	4	2	6	1	1	0	6	1	0	2	rs74683499	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:5411028C>T	ENST00000328611.3	+	1	422	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	134					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)	p.R134S(1)		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)		GTCCTTTGACCGCCTTGTGGC	0.517													c|||	97	0.019369	0.0673	0.0086	5008	,	,		22578	0.001		0	False		,,,				2504	0.001					.											1	Substitution - Missense(1)	lung(1)						T	CYS/ARG	211,3915		8,195,1860	220	211	214		400	2.2	1	11	dbSNP_131	214	9,8477		0,9,4234	yes	missense	OR51M1	NM_001004756.2	180	8,204,6094	TT,TC,CC		0.1061,5.1139,1.7444	probably-damaging	134/327	5411028	220,12392	2063	4243	6306	SO:0001583	missense	390059			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.400C>T	11.37:g.5411028C>T	ENSP00000333196:p.Arg134Cys		Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	35	0.016025641025641024	31	0.06300813008130081	3	0.008287292817679558	1	0.0017482517482517483	0	0.0	c	8.963	0.971057	0.18659	0.051139	0.001061	ENSG00000184698	ENST00000328611	T	0.77358	-1.09	5.06	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34200	U	0.004166	T	0.42562	0.1208	M	0.87097	2.86	0.39920	D	0.974145	P	0.52316	0.952	P	0.51453	0.67	T	0.70450	-0.4868	10	0.87932	D	0	.	9.3107	0.37903	0.0:0.7644:0.0:0.2356	.	123	Q9H341	O51M1_HUMAN	C	134	ENSP00000333196:R134C	ENSP00000333196:R134C	R	+	1	0	OR51M1	5367604	0.000000	0.05858	0.968000	0.41197	0.217000	0.24651	-0.832000	0.04400	0.330000	0.23485	-0.119000	0.15052	CGC		0.517	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		T	5411028	C	T	5411028	3	4	41	1	0	0	0	0	1	0	0	0	11103	652	23	1	402	1	OR51M1	11	5411028	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	3220077	5411028	129595488	43	3001											
CCDC73	493860	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	32636263	32636263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactacaaaatgattatttGgtgatttaaattctgtacat	15	16	5	5	0	1	2	0	2	1	0	1	2	1	2	0	1	2	1	0	1	7	7			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:32636263G>T	ENST00000335185.5	-	16	1644	c.1601C>A	c.(1600-1602)cCa>cAa	p.P534Q	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	534										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)					ATGATTATTTGGTGATTTAAA	0.318																																						.											0													131	118	122					11																	32636263		1819	4075	5894	SO:0001583	missense	493860			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.1601C>A	11.37:g.32636263G>T	ENSP00000335325:p.Pro534Gln		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770379	0.15983	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.42	2.1	0.27182	.	1.166390	0.06315	N	0.703327	T	0.21550	0.0519	L	0.40543	1.245	0.09310	N	1	P	0.34462	0.454	B	0.27380	0.079	T	0.20874	-1.0262	9	0.13853	T	0.58	.	0.2746	0.00236	0.33:0.1473:0.2777:0.245	.	534	Q6ZRK6	CCD73_HUMAN	Q	534	.	ENSP00000335325:P534Q	P	-	2	0	CCDC73	32592839	0.000000	0.05858	0.064000	0.19789	0.113000	0.19764	-0.315000	0.08081	0.631000	0.30412	0.591000	0.81541	CCA		0.318	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		T	32636263	G	T	32636263	3	4	41	1	0	0	0	0	1	0	0	0	2846	1348	47	5	1650	5	CCDC73	11	32636263	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	27225235	32636263	102370253	44	3002											
CDC42BPG	55561	mdanderson.org	37	chr11	64597205	64597205	+	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	gcgcccacacatagccggtcGcccagcagccccaggctctg	7	4	11	19	3	1	0	0	0	1	0	2	0	1	0	5	2	3	2	5	2	1	1	rs7936466	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:64597205G>T	ENST00000342711.5	-	30	3704	c.3705C>A	c.(3703-3705)ggC>ggA	p.G1235G	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATAGCCGGTCGCCCAGCAGCC	0.716													G|||	1371	0.273762	0.0439	0.2147	5008	,	,		14616	0.4931		0.2555	False		,,,				2504	0.4192					.											0								G		328,3866		16,296,1785	7	9	8		3705	-0.6	1	11	dbSNP_116	8	1926,6434		211,1504,2465	no	coding-synonymous	CDC42BPG	NM_017525.2		227,1800,4250	TT,TG,GG		23.0383,7.8207,17.9544		1235/1552	64597205	2254,10300	2097	4180	6277	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3705C>A	11.37:g.64597205G>T				Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																				0.716	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		T	64597205	G	T	64597205	2	4	41	1	0	0	0	0	0	0	0	1	3074	1074	38	5		5	CDC42BPG	11	64597205	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	31960942	64597205	70409311	45	3003											
ARAP1	116985	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	72438103	72438103	+	Missense_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	catgctgctcaaagagccccGtgtactgctccaggtgcaat	9	9	10	13	1	1	1	1	0	0	1	2	1	2	1	3	1	6	5	3	1	3	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:72438103G>A	ENST00000393609.3	-	3	273	c.71C>T	c.(70-72)aCg>aTg	p.T24M	ARAP1_ENST00000455638.2_Missense_Mutation_p.T24M|ARAP1_ENST00000359373.5_Missense_Mutation_p.T24M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	24	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						AAAGAGCCCCGTGTACTGCTC	0.657																																					Ovarian(102;1198 1520 13195 17913 37529)	.											0													16	21	20					11																	72438103		2084	4202	6286	SO:0001583	missense	116985			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.71C>T	11.37:g.72438103G>A	ENSP00000377233:p.Thr24Met		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830810	0.50845	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393609	T;T;T	0.50001	0.76;0.76;0.76	4.59	3.67	0.42095	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.356212	0.26190	N	0.025808	T	0.41673	0.1169	L	0.46157	1.445	0.26422	N	0.976081	D;D	0.54207	0.957;0.965	B;P	0.47102	0.402;0.537	T	0.36553	-0.9743	10	0.54805	T	0.06	.	4.6932	0.12791	0.1784:0.2125:0.609:0.0	.	24;24	Q96P48-3;Q96P48	.;ARAP1_HUMAN	M	24	ENSP00000352332:T24M;ENSP00000390461:T24M;ENSP00000377233:T24M	ENSP00000352332:T24M	T	-	2	0	ARAP1	72115751	0.170000	0.23016	0.821000	0.32701	0.955000	0.61496	1.164000	0.31810	1.130000	0.42092	0.555000	0.69702	ACG		0.657	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		A	72438103	G	A	72438103	3	1	41	1	0	0	0	0	1	0	0	0	838	1145	40	1	4413	1	ARAP1	11	72438103	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	7840898	72438103	62568413	46	3004											
TMPRSS13	84000	broad.mit.edu;bcgsc.ca	37	chr11	117784539	117784539	+	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	ttctctgagtaggagtcattCcagttgctgctacagatggg	8	13	12	8	0	2	2	1	1	1	1	4	3	3	3	1	2	3	4	1	2	2	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr11:117784539C>G	ENST00000430170.2	-	5	849	c.762G>C	c.(760-762)tgG>tgC	p.W254C	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.W254C|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.W254C|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.W254C|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.W219C	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	254	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					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)		AGGAGTCATTCCAGTTGCTGC	0.537																																						.											0													75	79	78					11																	117784539		1907	4112	6019	SO:0001583	missense	84000			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.762G>C	11.37:g.117784539C>G	ENSP00000387702:p.Trp254Cys		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365229	0.82463	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000015	D	0.88190	0.6370	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90128	0.4204	10	0.87932	D	0	.	19.4133	0.94685	0.0:1.0:0.0:0.0	.	249;254	Q9BYE2-4;E9PRA0	.;.	C	219;249;254;254;254;254	ENSP00000435813:W219C;ENSP00000434279:W254C;ENSP00000387702:W254C;ENSP00000394114:W254C;ENSP00000436502:W254C	ENSP00000337113:W249C	W	-	3	0	TMPRSS13	117289749	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.462000	0.73526	2.700000	0.92200	0.561000	0.74099	TGG		0.537	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		G	117784539	C	G	117784539	3	3	41	1	0	0	0	0	1	0	0	0	16242	856	30	5	977	5	TMPRSS13	11	117784539	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	45346436	117784539	17221977	47	3005											
CLEC6A	93978	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	8618083	8618083	+	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	atgtaacacaaaaatagcctGgggatgttgcccagcttctt	12	11	9	9	0	1	0	0	0	1	0	1	1	1	1	2	2	4	3	2	2	4	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr12:8618083G>A	ENST00000382073.3	+	4	413	c.227G>A	c.(226-228)tGg>tAg	p.W76*		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	76					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AAAATAGCCTGGGGATGTTGC	0.383																																						.											0													118	113	115					12																	8618083		2203	4300	6503	SO:0001587	stop_gained	93978			AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"C-type lectin domain containing"	14556	protein-coding gene	gene with protein product		613579	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.227G>A	12.37:g.8618083G>A	ENSP00000371505:p.Trp76*		A2RUK3	Nonsense_Mutation	SNP	ENST00000382073.3	37	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706150	0.89018	.	.	ENSG00000205846	ENST00000382073	.	.	.	4.09	3.19	0.36642	.	0.000000	0.35235	N	0.003345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6456	0.28318	0.1143:0.0:0.8857:0.0	.	.	.	.	X	76	.	ENSP00000371505:W76X	W	+	2	0	CLEC6A	8509350	1.000000	0.71417	0.925000	0.36789	0.631000	0.37964	3.314000	0.51943	1.292000	0.44672	0.650000	0.86243	TGG		0.383	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		A	8618083	G	A	8618083	4	1	41	1	0	0	0	0	0	1	0	0	3520	1357	47	4	241	4	CLEC6A	12	8618083	Nonsense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10		8618083	125233812	48	3006											
PRB2	653247	mdanderson.org	37	chr12	11546448	11546448	+	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	gggggaccttggggctggttGcctccttgtgggggtggtcc	1	11	20	9	0	0	0	0	0	0	0	2	1	2	1	4	8	1	2	4	8	0	3	rs11054278		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr12:11546448G>A	ENST00000389362.4	-	3	599	c.564C>T	c.(562-564)ggC>ggT	p.G188G	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	188	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)			GGGGCTGGTTGCCTCCTTGTG	0.602																																						.											0													148	148	148					12																	11546448		2166	4270	6436	SO:0001819	synonymous_variant	653247			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.564C>T	12.37:g.11546448G>A			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		A	11546448	G	A	11546448	2	1	41	1	0	0	0	0	0	0	0	1	12443	1306	46	4		4	PRB2	12	11546448	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	2928365	11546448	122305447	49	3007											
KIF5A	3798	broad.mit.edu	37	chr12	57957254	57957254	+	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	gtttttgaccgtgtattcccCccaaacacgactcaagagca	11	10	7	13	2	1	2	1	1	0	1	2	3	2	2	4	0	2	3	4	0	3	4			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr12:57957254C>T	ENST00000455537.2	+	2	436	c.162C>T	c.(160-162)ccC>ccT	p.P54P	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	54	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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						GTGTATTCCCCCCAAACACGA	0.413																																						.											0													99	89	92					12																	57957254		2203	4300	6503	SO:0001819	synonymous_variant	3798			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.162C>T	12.37:g.57957254C>T			A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	CCDS8945.1																																																																																				0.413	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		T	57957254	C	T	57957254	2	4	41	1	0	0	0	0	0	0	0	1	8305	610	22	3		3	KIF5A	12	57957254	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10	46410806	57957254	75894641	50	3008											
CCDC59	29080	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	82747061	82747061	+	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	tttgtactgcctttgggcttCttctctctcctgttttctcc	1	21	6	13	0	4	0	0	0	4	0	7	0	4	0	3	1	2	3	3	1	1	7			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr12:82747061C>A	ENST00000256151.7	-	4	1006	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CTTTGGGCTTCTTCTCTCTCC	0.328																																						.											0													124	115	118					12																	82747061		2203	4299	6502	SO:0001587	stop_gained	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.595G>T	12.37:g.82747061C>A	ENSP00000256151:p.Glu199*		Q9H2V5|Q9NW62	Nonsense_Mutation	SNP	ENST00000256151.7	37	CCDS9023.1	.	.	.	.	.	.	.	.	.	.	C	40	8.294946	0.98747	.	.	ENSG00000133773	ENST00000256151	.	.	.	5.87	5.87	0.94306	.	0.093803	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-30.2799	18.7629	0.91860	0.0:1.0:0.0:0.0	.	.	.	.	X	199	.	ENSP00000256151:E199X	E	-	1	0	CCDC59	81271192	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.974000	0.63771	2.775000	0.95449	0.650000	0.86243	GAA		0.328	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167		A	82747061	C	A	82747061	4	1	41	1	0	0	0	0	0	1	0	0	2829	922	32	5	134	5	CCDC59	12	82747061	Nonsense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	24789807	82747061	51104834	51	3009											
RNF17	56163	ucsc.edu	37	chr13	25439115	25439115	+	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	aaatactgtacttctgaacaTactgaggagatgttgaaaga	16	11	9	5	0	1	5	0	3	1	2	1	6	1	5	0	1	4	2	0	1	6	5	rs372000517		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr13:25439115T>C	ENST00000255324.5	+	29	4132	c.4080T>C	c.(4078-4080)caT>caC	p.H1360H	RNF17_ENST00000381921.1_Intron|RNF17_ENST00000339524.3_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1360					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTCTGAACATACTGAGGAGA	0.303																																						.											0								T	,	0,4398		0,0,2199	75	77	76		4068,4080	-1.4	0.9	13		76	1,8563	1.2+/-3.3	0,1,4281	no	coding-synonymous,coding-synonymous	RNF17	NM_001184993.1,NM_031277.2	,	0,1,6480	CC,CT,TT		0.0117,0.0,0.0077	,	1356/1620,1360/1624	25439115	1,12961	2199	4282	6481	SO:0001819	synonymous_variant	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4080T>C	13.37:g.25439115T>C			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																				0.303	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		C	25439115	T	C	25439115	2	2	41	1	0	0	0	0	0	0	0	1	13461	1403	49	4		4	RNF17	13	25439115	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10		25439115	89730763	52	3010											
DGKH	160851	ucsc.edu	37	chr13	42623046	42623046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcgaagcggagcaagAgggaccccagaaactgatcc	14	3	13	11	2	0	4	0	2	0	2	1	7	1	6	3	2	4	1	3	2	3	0			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr13:42623046A>G	ENST00000337343.4	+	1	158	c.137A>G	c.(136-138)gAg>gGg	p.E46G	DGKH_ENST00000261491.5_Missense_Mutation_p.E46G|DGKH_ENST00000540693.1_Missense_Mutation_p.E46G|DGKH_ENST00000379274.2_5'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	46					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCGGAGCAAGAGGGACCCCAG	0.716																																						.											0													18	17	18					13																	42623046		2196	4298	6494	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.137A>G	13.37:g.42623046A>G	ENSP00000337572:p.Glu46Gly		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.911329	0.72983	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491	T;T;T	0.81247	-1.47;-1.29;-1.47	4.26	4.26	0.50523	.	0.091905	0.39544	N	0.001327	T	0.74891	0.3776	L	0.29908	0.895	0.80722	D	1	P;B	0.44139	0.827;0.002	P;B	0.46758	0.526;0.003	T	0.72551	-0.4259	10	0.26408	T	0.33	.	13.6415	0.62253	1.0:0.0:0.0:0.0	.	46;46	Q86XP1-2;Q86XP1	.;DGKH_HUMAN	G	46	ENSP00000440823:E46G;ENSP00000337572:E46G;ENSP00000261491:E46G	ENSP00000261491:E46G	E	+	2	0	DGKH	41521046	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.038000	0.70964	1.684000	0.51022	0.254000	0.18369	GAG		0.716	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		G	42623046	A	G	42623046	3	3	41	1	0	0	0	0	1	0	0	0	4470	304	11	2	139	2	DGKH	13	42623046	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	17183931	42623046	72546832	53	3011											
PIBF1	10464	broad.mit.edu	37	chr13	73572977	73572977	+	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	caggaattggcagcaatgaaAcagattctcgttaagatgca	15	9	10	7	1	1	3	0	1	1	2	2	4	1	4	0	2	3	4	0	2	4	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr13:73572977A>G	ENST00000326291.6	+	17	2405	c.2067A>G	c.(2065-2067)aaA>aaG	p.K689K	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	689						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CAGCAATGAAACAGATTCTCG	0.303																																						.											0													61	55	57					13																	73572977		2203	4299	6502	SO:0001819	synonymous_variant	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.2067A>G	13.37:g.73572977A>G			O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	CCDS31991.1																																																																																				0.303	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		G	73572977	A	G	73572977	2	3	41	1	0	0	0	0	0	0	0	1	11879	40	2	2		2	PIBF1	13	73572977	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10	30949931	73572977	41596901	54	3012											
LRFN5	145581	broad.mit.edu	37	chr14	42355997	42355997	+	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	acagaagaactgtggaactgCggttggcagacaattttgtt	12	11	12	6	1	0	3	0	0	0	3	0	4	0	4	0	3	3	3	0	3	4	4			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr14:42355997C>T	ENST00000298119.4	+	3	1358	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	LRFN5_ENST00000554171.1_Missense_Mutation_p.R57W|LRFN5_ENST00000554120.1_Missense_Mutation_p.R57W	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	57						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTGGAACTGCGGTTGGCAGA	0.383										HNSCC(30;0.082)																												.											0													64	58	60					14																	42355997		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.169C>T	14.37:g.42355997C>T	ENSP00000298119:p.Arg57Trp		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905412	0.52333	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.52983	0.64;0.64;0.64	5.56	4.64	0.57946	.	0.000000	0.50627	D	0.000116	T	0.69214	0.3086	M	0.79805	2.47	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73751	-0.3884	10	0.72032	D	0.01	.	13.2597	0.60098	0.16:0.84:0.0:0.0	.	57;57	G3V364;Q96NI6	.;LRFN5_HUMAN	W	57	ENSP00000298119:R57W;ENSP00000451897:R57W;ENSP00000451067:R57W	ENSP00000298119:R57W	R	+	1	2	LRFN5	41425747	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.226000	0.51254	1.276000	0.44395	0.650000	0.86243	CGG		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42355997	C	T	42355997	3	4	41	1	0	0	0	0	1	0	0	0	8941	759	27	1	171	1	LRFN5	14	42355997	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		42355997	64993543	55	3013											
SYT16	83851	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	62462902	62462902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtgacaaactagatcaGgacttagataatattcagat	16	12	8	5	0	2	5	2	2	0	3	2	6	2	6	0	1	1	0	0	1	5	6			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr14:62462902G>T	ENST00000430451.2	+	1	362	c.165G>T	c.(163-165)caG>caT	p.Q55H	SYT16_ENST00000446982.2_Missense_Mutation_p.Q55H	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	55					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AACTAGATCAGGACTTAGATA	0.388																																						.											0													138	134	135					14																	62462902		1867	4116	5983	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.165G>T	14.37:g.62462902G>T	ENSP00000394700:p.Gln55His		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140061	0.37728	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.36520	1.25;3.57	5.34	4.37	0.52481	.	0.000000	0.46442	D	0.000297	T	0.49525	0.1562	L	0.51422	1.61	0.23287	N	0.997971	D;D	0.89917	1.0;0.99	D;P	0.70935	0.971;0.707	T	0.33007	-0.9885	10	0.72032	D	0.01	-14.5578	9.808	0.40805	0.1467:0.0:0.8533:0.0	.	55;55	B4DZH2;Q17RD7	.;SYT16_HUMAN	H	55	ENSP00000388023:Q55H;ENSP00000394700:Q55H	ENSP00000394700:Q55H	Q	+	3	2	SYT16	61532655	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	2.327000	0.43858	2.776000	0.95493	0.650000	0.86243	CAG		0.388	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		T	62462902	G	T	62462902	3	4	41	1	0	0	0	0	1	0	0	0	15469	991	35	5	167	5	SYT16	14	62462902	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	20106905	62462902	44886638	56	3014											
PLEKHG3	26030	broad.mit.edu	37	chr14	65194463	65194464	+	Frame_Shift_Ins	INS	-	-	C																															gtcgcagtgccatggaggagINScccagcagctccgaggctcc																										TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr14:65194463_65194464insC	ENST00000394691.1	+	2	261_262	c.114_115insC	c.(115-117)cccfs	p.P39fs	PLEKHG3_ENST00000247226.7_Frame_Shift_Ins_p.P39fs			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	39	Ser-rich.						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)		CCATGGAGGAGCCCAGCAGCTC	0.644																																						.											0																																										SO:0001589	frameshift_variant	26030			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.117dupC	14.37:g.65194466_65194466dupC	ENSP00000378183:p.Pro39fs		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Frame_Shift_Ins	INS	ENST00000394691.1	37																																																																																					0.644	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		C	65194464	-	C	65194463	7	5	41	1	0	1	1	0	0	0	0	0	12070	962	34	0	116	0	PLEKHG3	14	65194463	Frame_Shift_Ins	INS	-	TCGA-KN-8426-01A-11D-2310-10	2731561	65194463	42155077	57	3015											
TRIP11	9321	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	92471894	92471894	+	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	aaatttctttcttgtttataAgttgtgtcaactgcttctgc	8	20	6	7	0	4	0	1	0	3	0	4	0	4	0	0	0	3	3	0	0	4	8			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr14:92471894A>C	ENST00000267622.4	-	11	2799	c.2426T>G	c.(2425-2427)cTt>cGt	p.L809R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	809					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTGTTTATAAGTTGTGTCAA	0.318			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													87	93	91					14																	92471894		2203	4300	6503	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2426T>G	14.37:g.92471894A>C	ENSP00000267622:p.Leu809Arg		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	A	9.614	1.131949	0.21041	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.10005	2.92	5.77	4.6	0.57074	.	0.211258	0.41396	N	0.000885	T	0.26846	0.0657	M	0.66939	2.045	0.49687	D	0.999814	P;D	0.76494	0.565;0.999	B;D	0.70935	0.16;0.971	T	0.04870	-1.0921	10	0.16420	T	0.52	.	12.8783	0.58001	0.864:0.136:0.0:0.0	.	545;809	F5H1Z0;Q15643	.;TRIPB_HUMAN	R	809;545	ENSP00000267622:L809R	ENSP00000267622:L809R	L	-	2	0	TRIP11	91541647	0.998000	0.40836	0.004000	0.12327	0.073000	0.16967	5.005000	0.63972	0.970000	0.38263	0.254000	0.18369	CTT		0.318	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			C	92471894	A	C	92471894	3	2	41	1	0	0	0	0	1	0	0	0	16552	72	3	5	3557	5	TRIP11	14	92471894	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	27277431	92471894	14877646	58	3016											
NIPA2	81614	broad.mit.edu	37	chr15	23006232	23006232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctttcttaaaaagctgTcagatttccatttcttcggg	10	15	6	10	1	3	1	1	0	2	1	5	1	4	1	2	1	1	1	2	1	3	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr15:23006232T>C	ENST00000337451.3	-	8	1684	c.1072A>G	c.(1072-1074)Aca>Gca	p.T358A	NIPA2_ENST00000398013.3_Missense_Mutation_p.T358A|NIPA2_ENST00000539711.2_Missense_Mutation_p.T339A|NIPA2_ENST00000398014.2_Missense_Mutation_p.T358A|NIPA2_ENST00000359727.4_Missense_Mutation_p.T339A	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	358						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TAAAAAGCTGTCAGATTTCCA	0.318																																						.											0													56	58	57					15																	23006232		2203	4299	6502	SO:0001583	missense	81614			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.1072A>G	15.37:g.23006232T>C	ENSP00000337618:p.Thr358Ala		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258288	0.23051	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.76	-8.9	0.00782	.	0.726605	0.14377	N	0.323405	T	0.66297	0.2775	N	0.08118	0	0.20074	N	0.999935	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58814	-0.7570	10	0.19590	T	0.45	-5.4043	4.4746	0.11729	0.3697:0.4077:0.0876:0.135	.	339;358	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	A	358;358;339;358;339	ENSP00000337618:T358A;ENSP00000381096:T358A;ENSP00000352762:T339A;ENSP00000381095:T339A	ENSP00000337618:T358A	T	-	1	0	NIPA2	20557673	0.895000	0.30542	0.064000	0.19789	0.726000	0.41606	-0.125000	0.10579	-1.658000	0.01490	-1.100000	0.02121	ACA		0.318	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		C	23006232	T	C	23006232	3	2	41	1	0	0	0	0	1	0	0	0	10423	1667	58	2	14	2	NIPA2	15	23006232	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10		23006232	79525160	59	3017											
FMN1	342184	broad.mit.edu	37	chr15	33261112	33261113	+	Frame_Shift_Ins	INS	-	-	G																															gtggggcaggggagttaggaINSagtgggggtgggggtggggg																										TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr15:33261112_33261113insG	ENST00000559047.1	-	5	2788_2789	c.2789_2790insC	c.(2788-2790)cttfs	p.L930fs	FMN1_ENST00000334528.9_Frame_Shift_Ins_p.L707fs|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Frame_Shift_Ins_p.L832fs			Q68DA7	FMN1_HUMAN	formin 1	930	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)		GGGAGTTAGGAAgtgggggtgg	0.668																																						.											0																																										SO:0001589	frameshift_variant	342184			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.2789_2790insC	15.37:g.33261112_33261113insG	ENSP00000454047:p.Leu930fs		Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Ins	INS	ENST00000559047.1	37																																																																																					0.668	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		G	33261113	-	G	33261112	7	5	41	1	0	1	1	0	0	0	0	0	5949	233	9	0	1525	0	FMN1	15	33261112	Frame_Shift_Ins	INS	-	TCGA-KN-8426-01A-11D-2310-10	10254880	33261112	69270280	60	3018											
ZFP106	64397	broad.mit.edu	37	chr15	42734362	42734362	+	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	tgttcaggagacatgggctcTtgtttaatctgaactgatga	10	14	11	6	0	3	4	1	3	2	1	3	5	3	4	0	2	1	3	0	2	2	4			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr15:42734362T>C	ENST00000263805.4	-	7	3929	c.3603A>G	c.(3601-3603)caA>caG	p.Q1201Q	ZNF106_ENST00000565380.1_Silent_p.Q429Q|ZNF106_ENST00000565611.1_Silent_p.Q386Q	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1201					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACATGGGCTCTTGTTTAATCT	0.478																																						.											0													165	151	155					15																	42734362		2203	4299	6502	SO:0001819	synonymous_variant	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3603A>G	15.37:g.42734362T>C			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.478	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		C	42734362	T	C	42734362	2	2	41	1	0	0	0	0	0	0	0	1	17634	1606	56	2		2	ZFP106	15	42734362	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	9473250	42734362	59797030	61	3019											
TPSAB1	7177	mdanderson.org	37	chr16	1291269	1291269	+	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	ccatactggatgcacttctgCgggggctccctcatccaccc	6	9	9	17	1	2	0	1	0	1	0	4	1	4	1	4	3	3	2	4	3	1	2	rs200858385		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:1291269C>T	ENST00000338844.3	+	3	210	c.177C>T	c.(175-177)tgC>tgT	p.C59C	TPSAB1_ENST00000461509.2_Silent_p.C66C	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGCACTTCTGCGGGGGCTCCC	0.692																																						.											0																																										SO:0001819	synonymous_variant	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.177C>T	16.37:g.1291269C>T			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																				0.692	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		T	1291269	C	T	1291269	2	4	41	1	0	0	0	0	0	0	0	1	16420	776	27	1		1	TPSAB1	16	1291269	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10		1291269	89063484	62	3020											
TPSD1	23430	mdanderson.org	37	chr16	1306665	1306665	+	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	atccacccccagtgggtgctAaccgcggcgcactgcgtgga	7	6	13	15	4	0	0	0	0	0	0	1	1	1	1	4	3	3	2	4	3	1	1	rs3993988		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:1306665A>G	ENST00000211076.3	+	2	379	c.231A>G	c.(229-231)ctA>ctG	p.L77L	TPSD1_ENST00000397534.2_Silent_p.L70L|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	77	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AGTGGGTGCTAACCGCGGCGC	0.701																																						.											0													47	57	54					16																	1306665		2199	4299	6498	SO:0001819	synonymous_variant	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.231A>G	16.37:g.1306665A>G			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.701	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			G	1306665	A	G	1306665	2	3	41	1	0	0	0	0	0	0	0	1	16422	349	13	4		4	TPSD1	16	1306665	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10	15396	1306665	89048088	63	3021											
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	21049160	21049160	+	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	ccggagcagcaggacactttCattctcctctggatacttga	9	11	9	12	1	3	1	1	1	2	0	4	4	3	4	2	3	3	2	2	3	1	4			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:21049160C>A	ENST00000261383.3	-	34	4872	c.4873G>T	c.(4873-4875)Gaa>Taa	p.E1625*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.E1625*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1625					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)		AGGACACTTTCATTCTCCTCT	0.507																																						.											0													136	110	119					16																	21049160		2201	4300	6501	SO:0001587	stop_gained	55567			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.4873G>T	16.37:g.21049160C>A	ENSP00000261383:p.Glu1625*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	45	11.822684	0.99607	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9616	0.97254	0.0:1.0:0.0:0.0	.	.	.	.	X	1625	.	ENSP00000261383:E1625X	E	-	1	0	DNAH3	20956661	1.000000	0.71417	0.992000	0.48379	0.676000	0.39594	7.764000	0.85297	2.724000	0.93272	0.561000	0.74099	GAA		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21049160	C	A	21049160	4	1	41	1	0	0	0	0	0	1	0	0	4603	835	29	5	7592	5	DNAH3	16	21049160	Nonsense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	19742495	21049160	69305593	64	3022											
QPRT	23475	hgsc.bcm.edu	37	chr16	29706448	29706448	+	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	ctggtgggcggggccgcctcGcaccgctacgacctgggagg	4	5	18	14	5	0	0	0	0	0	0	1	2	0	1	4	6	1	2	4	6	1	1	rs569256152	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:29706448G>T	ENST00000395384.4	+	2	638	c.477G>T	c.(475-477)tcG>tcT	p.S159S	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	159					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)	GGGCCGCCTCGCACCGCTACG	0.687													g|||	3	0.000599042	0	0	5008	,	,		11932	0		0	False		,,,				2504	0.0031					.											0													25	38	34					16																	29706448		2150	4242	6392	SO:0001819	synonymous_variant	23475			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.477G>T	16.37:g.29706448G>T			Q53XW7|Q96G22|Q9BSG6	Silent	SNP	ENST00000395384.4	37	CCDS10651.1																																																																																				0.687	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		T	29706448	G	T	29706448	2	4	41	1	0	0	0	0	0	0	0	1	12876	1074	38	5		5	QPRT	16	29706448	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	8657288	29706448	60648305	65	3023											
ZFHX3	463	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr16	72992269	72992269	+	Missense_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	ttgtctttattggcactttcGtcagcgaagtccagcctcct	6	15	8	12	2	2	0	1	0	1	0	5	1	4	0	3	1	2	1	3	1	2	5	rs11075951	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:72992269G>T	ENST00000268489.5	-	2	2448	c.1776C>A	c.(1774-1776)gaC>gaA	p.D592E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	592					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)				TGGCACTTTCGTCAGCGAAGT	0.552																																						.											0													108	104	105					16																	72992269		2198	4300	6498	SO:0001583	missense	463			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.1776C>A	16.37:g.72992269G>T	ENSP00000268489:p.Asp592Glu		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	4.385	0.071015	0.08436	.	.	ENSG00000140836	ENST00000268489	T	0.75260	-0.92	5.04	-1.87	0.07737	.	0.000000	0.52532	D	0.000080	T	0.53578	0.1805	N	0.17474	0.49	0.80722	D	1	P	0.37573	0.6	B	0.38985	0.287	T	0.40683	-0.9550	10	0.17369	T	0.5	.	11.3231	0.49435	0.6672:0.0:0.3328:0.0	.	592	Q15911	ZFHX3_HUMAN	E	592	ENSP00000268489:D592E	ENSP00000268489:D592E	D	-	3	2	ZFHX3	71549770	0.935000	0.31712	0.992000	0.48379	0.925000	0.55904	0.137000	0.15995	-0.231000	0.09825	-0.827000	0.03088	GAC		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72992269	G	T	72992269	3	4	41	1	0	0	0	0	1	0	0	0	17631	1136	40	5	9371	5	ZFHX3	16	72992269	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	43285821	72992269	17362484	66	3024											
GALNS	2588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	88889069	88889069	+	Missense_Mutation	SNP	T	T	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	gcttcgtgtggtcttccagaTtgtgagttgtgacccctgaa	6	14	12	9	1	1	4	0	3	1	1	3	4	2	4	3	1	0	2	3	1	1	4			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr16:88889069T>C	ENST00000268695.5	-	12	1380	c.1292A>G	c.(1291-1293)aAt>aGt	p.N431S	GALNS_ENST00000542788.1_Missense_Mutation_p.N356S	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	431					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)		GTCTTCCAGATTGTGAGTTGT	0.617																																					GBM(129;1929 2344 25209 33204)	.											0													106	90	96					16																	88889069		2198	4299	6497	SO:0001583	missense	2588			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.1292A>G	16.37:g.88889069T>C	ENSP00000268695:p.Asn431Ser		Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.956637	0.00465	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.89415	-2.51;-2.51	4.89	1.67	0.24075	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.751136	0.13268	N	0.400708	T	0.67711	0.2922	N	0.03608	-0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.55952	-0.8059	10	0.08381	T	0.77	.	2.9126	0.05742	0.0864:0.2963:0.3381:0.2792	.	431;431	B2R6P1;P34059	.;GALNS_HUMAN	S	431;356	ENSP00000268695:N431S;ENSP00000438197:N356S	ENSP00000268695:N431S	N	-	2	0	GALNS	87416570	0.010000	0.17322	0.999000	0.59377	0.015000	0.08874	0.718000	0.25866	0.668000	0.31126	-0.795000	0.03280	AAT		0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			C	88889069	T	C	88889069	3	2	41	1	0	0	0	0	1	0	0	0	6206	1493	52	4	288	4	GALNS	16	88889069	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10	15896800	88889069	1465684	67	3025											
POLDIP2	26073	broad.mit.edu	37	chr17	26677558	26677558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtaccacatcactgTcaaggttctccaaacggata	12	9	9	11	1	3	0	2	0	1	0	4	2	3	2	2	3	3	3	2	3	4	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:26677558T>C	ENST00000540200.1	-	10	814	c.815A>G	c.(814-816)gAc>gGc	p.D272G	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	273	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CACATCACTGTCAAGGTTCTC	0.532																																						.											0													64	65	65					17																	26677558		1965	4169	6134	SO:0001583	missense	26073			AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.815A>G	17.37:g.26677558T>C	ENSP00000475924:p.Asp272Gly		B2R846|Q96JE4	Missense_Mutation	SNP	ENST00000540200.1	37																																																																																					0.532	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584		C	26677558	T	C	26677558	3	2	41	1	0	0	0	0	1	0	0	0	12194	1667	58	2	300	2	POLDIP2	17	26677558	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10		26677558	54517652	68	3026											
UTP6	55813	broad.mit.edu	37	chr17	30207665	30207665	+	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	ttccggccgacctccactgcTttggcttgtttcgttgtagg	3	15	11	12	3	0	0	0	0	0	0	3	1	2	0	4	3	1	5	4	3	1	6			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:30207665T>C	ENST00000261708.4	-	11	1031	c.894A>G	c.(892-894)aaA>aaG	p.K298K	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	298					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CCTCCACTGCTTTGGCTTGTT	0.502																																						.											0													196	174	181					17																	30207665		2203	4300	6503	SO:0001819	synonymous_variant	55813			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated antigen 66"		"chromosome 17 open reading frame 40"	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.894A>G	17.37:g.30207665T>C			Q8IX96|Q96BL2|Q9NQ91	Silent	SNP	ENST00000261708.4	37	CCDS11269.1																																																																																				0.502	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		C	30207665	T	C	30207665	2	2	41	1	0	0	0	0	0	0	0	1	17099	1606	56	2		2	UTP6	17	30207665	Silent	SNP	T	TCGA-KN-8426-01A-11D-2310-10	3530107	30207665	50987545	69	3027											
FAM134C	162427	ucsc.edu	37	chr17	40737279	40737279	+	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	ggccacatcatgacagtgacAactgtgaggaggcatgggaa	13	6	14	8	0	1	3	1	3	0	0	1	5	1	5	1	4	1	1	1	4	2	0			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:40737279A>G	ENST00000309428.5	-	6	650	c.591T>C	c.(589-591)ctT>ctC	p.L197L	FAM134C_ENST00000585894.1_Splice_Site_p.L100L|FAM134C_ENST00000543197.1_Splice_Site_p.L2L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	197						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TGACAGTGACAACTGTGAGGA	0.532																																						.											0													66	52	57					17																	40737279		2203	4300	6503	SO:0001630	splice_region_variant	162427			BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.590-1T>C	17.37:g.40737279A>G			B3KR75	Silent	SNP	ENST00000309428.5	37	CCDS11432.1																																																																																				0.532	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126	Silent	G	40737279	A	G	40737279	5	3	41	1	0	0	0	0	0	0	1	0	5447	144	5	4	825	4	FAM134C	17	40737279	Splice_Site	SNP	A	TCGA-KN-8426-01A-11D-2310-10	10529614	40737279	40457931	70	3028											
GJC1	10052	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr17	42882018	42882018	+	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	aatccagacggaggtcttccCatcccctgatttgctactgg	8	11	9	13	1	1	2	0	1	1	1	4	3	4	3	4	3	2	1	4	3	2	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:42882018C>A	ENST00000426548.1	-	3	1437	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	GJC1_ENST00000592524.1_Missense_Mutation_p.G390W|GJC1_ENST00000330514.4_Missense_Mutation_p.G390W|GJC1_ENST00000590758.1_Missense_Mutation_p.G390W	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	390					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GAGGTCTTCCCATCCCCTGAT	0.493																																						.											0													134	126	129					17																	42882018		2203	4300	6503	SO:0001583	missense	10052			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.1168G>T	17.37:g.42882018C>A	ENSP00000411528:p.Gly390Trp		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728356	0.69074	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.98455	-4.94;-4.94	5.48	5.48	0.80851	.	0.764469	0.12267	N	0.484156	D	0.98679	0.9557	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98871	1.0766	10	0.87932	D	0	.	18.3265	0.90256	0.0:1.0:0.0:0.0	.	390	P36383	CXG1_HUMAN	W	390	ENSP00000411528:G390W;ENSP00000333193:G390W	ENSP00000333193:G390W	G	-	1	0	GJC1	40237544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.569000	0.86673	0.655000	0.94253	GGG		0.493	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		A	42882018	C	A	42882018	3	1	41	1	0	0	0	0	1	0	0	0	6414	594	21	5	26	5	GJC1	17	42882018	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	2144739	42882018	38313192	71	3029											
SLC16A5	9121	bcgsc.ca	37	chr17	73102117	73102117	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacggctctgggctggaatAgccctacctgagtgccctgt	8	9	12	12	1	1	1	0	1	1	0	1	2	1	2	3	3	4	2	3	3	4	2			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr17:73102117A>G	ENST00000450736.2	+	6	1922	c.1507A>G	c.(1507-1509)Agc>Ggc	p.S503G	SLC16A5_ENST00000329783.4_Missense_Mutation_p.S503G|SLC16A5_ENST00000580123.1_Missense_Mutation_p.S503G			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	503					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	gggctggaatagccctacctg	0.542											OREG0024726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													38	30	33					17																	73102117		2203	4300	6503	SO:0001583	missense	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1507A>G	17.37:g.73102117A>G	ENSP00000390564:p.Ser503Gly	1142	B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032641	0.19590	.	.	ENSG00000170190	ENST00000329783;ENST00000450736	T;T	0.07444	3.19;3.19	2.82	-1.3	0.09259	.	.	.	.	.	T	0.04815	0.0130	N	0.08118	0	0.09310	N	0.999999	P	0.43392	0.805	P	0.45506	0.483	T	0.31806	-0.9930	9	0.87932	D	0	.	3.237	0.06768	0.3636:0.1957:0.0:0.4407	.	503	O15375	MOT6_HUMAN	G	503	ENSP00000330141:S503G;ENSP00000390564:S503G	ENSP00000330141:S503G	S	+	1	0	SLC16A5	70613712	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.341000	0.19909	-0.321000	0.08627	0.418000	0.28097	AGC		0.542	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		G	73102117	A	G	73102117	3	3	41	1	0	0	0	0	1	0	0	0	14411	420	15	2	1525	2	SLC16A5	17	73102117	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	30220099	73102117	8093093	72	3030											
LMAN1	3998	bcgsc.ca	37	chr18	57000391	57000391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgctctttgatgtcaatgaAgtgctgtgttgtctcataga	8	16	11	6	0	3	3	2	2	2	1	4	3	3	3	0	0	2	3	0	0	3	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr18:57000391A>G	ENST00000251047.5	-	11	2023	c.1306T>C	c.(1306-1308)Ttc>Ctc	p.F436L		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	436					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATGTCAATGAAGTGCTGTGTT	0.423																																						.											0													87	82	84					18																	57000391		2203	4300	6503	SO:0001583	missense	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1306T>C	18.37:g.57000391A>G	ENSP00000251047:p.Phe436Leu		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238027	0.39598	.	.	ENSG00000074695	ENST00000251047	T	0.55234	0.53	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.61703	1.905	0.80722	D	1	P	0.45634	0.863	P	0.46885	0.53	T	0.54622	-0.8266	10	0.25106	T	0.35	-12.9726	15.942	0.79763	1.0:0.0:0.0:0.0	.	436	P49257	LMAN1_HUMAN	L	436	ENSP00000251047:F436L	ENSP00000251047:F436L	F	-	1	0	LMAN1	55151371	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	8.923000	0.92808	2.248000	0.74166	0.533000	0.62120	TTC		0.423	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		G	57000391	A	G	57000391	3	3	41	1	0	0	0	0	1	0	0	0	8836	72	3	2	238	2	LMAN1	18	57000391	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10		57000391	21076857	73	3031											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	8966765	8966765	+	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	tctactctccgagccagtggCgagaagttacacagggagtc	10	8	12	11	2	2	1	0	0	2	1	4	4	2	2	2	2	3	1	2	2	3	2			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:8966765C>T	ENST00000397910.4	-	81	43391	c.43188G>A	c.(43186-43188)tcG>tcA	p.S14396S	MUC16_ENST00000380951.5_Silent_p.S1037S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14494				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGTGGCGAGAAGTTAC	0.527																																						.											0													27	31	29					19																	8966765		1958	4136	6094	SO:0001819	synonymous_variant	94025			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.43188G>A	19.37:g.8966765C>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.585	-0.530574	0.04112	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.22	-0.708	0.11241	.	1.029670	0.07728	N	0.944810	T	0.27663	0.0680	.	.	.	.	.	.	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	.	4.1107	0.10057	0.0:0.3062:0.1787:0.5151	.	.	.	.	H	1219	.	.	R	-	2	0	MUC16	8827765	0.000000	0.05858	0.017000	0.16124	0.013000	0.08279	-3.159000	0.00578	-0.283000	0.09115	-1.295000	0.01343	CGC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8966765	C	T	8966765	2	4	41	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	8966765	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10		8966765	50162218	74	3032											
SMARCA4	6597	broad.mit.edu	37	chr19	11096982	11096982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgctggatggtgctgAcccccaggccttggggcagc	4	7	15	15	1	0	1	0	1	0	0	0	2	0	2	5	5	3	3	5	5	0	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:11096982A>G	ENST00000429416.3	+	5	754	c.473A>G	c.(472-474)gAc>gGc	p.D158G	SMARCA4_ENST00000413806.3_Missense_Mutation_p.D158G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D158G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D158G|SMARCA4_ENST00000358026.2_Missense_Mutation_p.D158G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D158G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D158G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D158G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D158G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	158	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.?(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)				GATGGTGCTGACCCCCAGGCC	0.642			"F, N, Mis"		NSCLC																																	.		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)											28	28	28					19																	11096982		2203	4299	6502	SO:0001583	missense	6597			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.473A>G	19.37:g.11096982A>G	ENSP00000395654:p.Asp158Gly		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	8.408	0.843558	0.16963	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.87103	-2.21;-2.2;-2.21;-2.21;-2.2;-2.21;-2.21	4.46	4.46	0.54185	.	0.122556	0.52532	D	0.000066	T	0.81093	0.4751	L	0.43152	1.355	0.37701	D	0.924203	B;B;B;P;B;B;B	0.37466	0.007;0.007;0.007;0.596;0.007;0.007;0.007	B;B;B;B;B;B;B	0.32289	0.007;0.007;0.007;0.143;0.007;0.012;0.012	D	0.84683	0.0718	10	0.56958	D	0.05	-46.7299	12.871	0.57965	1.0:0.0:0.0:0.0	.	158;158;158;158;158;158;158	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	G	158	ENSP00000395654:D158G;ENSP00000350720:D158G;ENSP00000343896:D158G;ENSP00000445036:D158G;ENSP00000392837:D158G;ENSP00000397783:D158G;ENSP00000414727:D158G	ENSP00000343896:D158G	D	+	2	0	SMARCA4	10957982	1.000000	0.71417	0.917000	0.36280	0.019000	0.09904	7.120000	0.77153	1.877000	0.54381	0.460000	0.39030	GAC		0.642	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11096982	A	G	11096982	3	3	41	1	0	0	0	0	1	0	0	0	14770	275	10	2	483	2	SMARCA4	19	11096982	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	2130217	11096982	48032001	75	3033											
SPTBN4	57731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	41003434	41003434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaaactcaccaagtccaAtgccaactacaacctgcaga	16	5	5	15	0	1	1	1	0	0	1	2	1	2	1	4	0	7	2	4	0	6	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:41003434A>G	ENST00000352632.3	+	7	793	c.707A>G	c.(706-708)aAt>aGt	p.N236S	SPTBN4_ENST00000344104.3_Missense_Mutation_p.N236S|SPTBN4_ENST00000595535.1_Missense_Mutation_p.N236S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.N236S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.N236S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	236	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			ACCAAGTCCAATGCCAACTAC	0.662																																						.											0													109	90	96					19																	41003434		2203	4300	6503	SO:0001583	missense	57731			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.707A>G	19.37:g.41003434A>G	ENSP00000263373:p.Asn236Ser		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033515	0.54896	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.58358	0.34;0.34;0.34	3.92	3.92	0.45320	Calponin homology domain (5);	0.437819	0.18796	N	0.130913	T	0.60894	0.2304	L	0.43646	1.37	0.80722	D	1	B;P	0.51791	0.003;0.948	B;P	0.61940	0.007;0.896	T	0.60642	-0.7223	10	0.49607	T	0.09	.	11.9119	0.52743	1.0:0.0:0.0:0.0	.	236;236	Q9H254;Q71S06	SPTN4_HUMAN;.	S	236	ENSP00000263373:N236S;ENSP00000340345:N236S;ENSP00000340741:N236S	ENSP00000340345:N236S	N	+	2	0	SPTBN4	45695274	1.000000	0.71417	0.972000	0.41901	0.968000	0.65278	8.992000	0.93519	1.646000	0.50622	0.378000	0.23410	AAT		0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			G	41003434	A	G	41003434	3	3	41	1	0	0	0	0	1	0	0	0	15120	101	4	4	729	4	SPTBN4	19	41003434	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	29906452	41003434	18125549	76	3034											
CEACAM5	1048	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	42225041	42225041	+	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	gggacctatgcctgttttgtCtctaacttggctactggccg	5	14	11	11	1	1	0	0	0	1	0	2	1	1	1	3	3	3	2	3	3	3	6	rs149056934		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:42225041C>G	ENST00000221992.6	+	8	2085	c.1971C>G	c.(1969-1971)gtC>gtG	p.V657V	CEACAM5_ENST00000398599.4_Silent_p.V656V|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.V657V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	657	Ig-like 7.				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)		CCTGTTTTGTCTCTAACTTGG	0.463																																						.											0													155	128	137					19																	42225041		2203	4300	6503	SO:0001819	synonymous_variant	1048			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.1971C>G	19.37:g.42225041C>G			H9KVA7	Silent	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660214	0.03454	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.3	1.17	0.20885	.	.	.	.	.	T	0.31513	0.0799	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	6.6464	0.22936	0.0:0.6999:0.3001:0.0	.	.	.	.	V	653	.	.	L	+	1	0	CEACAM5	46916881	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.276000	0.18716	0.466000	0.27193	0.467000	0.42956	CTC		0.463	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		G	42225041	C	G	42225041	2	3	41	1	0	0	0	0	0	0	0	1	3195	900	32	5		5	CEACAM5	19	42225041	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10	1221607	42225041	16903942	77	3035											
ZNF155	7711	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	44500350	44500350	+	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	tgcaaaagacttaaccaggtCtcaggactctatcataaata	16	10	6	9	0	3	1	2	0	2	1	4	2	3	2	1	2	2	1	1	2	7	4			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:44500350C>T	ENST00000270014.2	+	5	469	c.341C>T	c.(340-342)tCt>tTt	p.S114F	RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.S114F|ZNF155_ENST00000407951.2_Missense_Mutation_p.S125F|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	114					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TTAACCAGGTCTCAGGACTCT	0.448																																					NSCLC(61;554 1277 20909 42067 42312)	.											0													77	78	77					19																	44500350		2203	4300	6503	SO:0001583	missense	7711			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.341C>T	19.37:g.44500350C>T	ENSP00000270014:p.Ser114Phe		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	C	0.352	-0.944372	0.02322	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.06218	3.36;3.33	2.23	-4.46	0.03536	.	.	.	.	.	T	0.02304	0.0071	N	0.11255	0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.45948	-0.9226	9	0.14252	T	0.57	.	1.8656	0.03198	0.1271:0.3627:0.2911:0.219	.	125;114	B4DM95;Q12901	.;ZN155_HUMAN	F	125;114	ENSP00000385163:S125F;ENSP00000270014:S114F	ENSP00000270014:S114F	S	+	2	0	ZNF155	49192190	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-1.034000	0.03567	-1.407000	0.02043	0.462000	0.41574	TCT		0.448	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		T	44500350	C	T	44500350	3	4	41	1	0	0	0	0	1	0	0	0	17733	913	32	4	355	4	ZNF155	19	44500350	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	2275309	44500350	14628633	78	3036											
LAIR1	3903	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	54875936	54875936	+	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	atggtctgggccaggcagagCactggaagagaagccccagt	11	5	15	10	0	1	2	0	0	1	2	1	4	1	3	3	4	2	2	3	4	2	0			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr19:54875936C>T	ENST00000391742.2	-	2	188	c.36G>A	c.(34-36)gtG>gtA	p.V12V	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000313038.6_Splice_Site_p.V6V|LAIR1_ENST00000348231.4_Splice_Site_p.V12V|LAIR1_ENST00000474878.1_Splice_Site_p.V12V|LAIR1_ENST00000434277.2_Splice_Site_p.V12V			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	12					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)		CCAGGCAGAGCACTGGAAGAG	0.612																																						.											0													76	70	72					19																	54875936		2203	4300	6503	SO:0001630	splice_region_variant	3903			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.35-1G>A	19.37:g.54875936C>T				Silent	SNP	ENST00000391742.2	37	CCDS12891.1																																																																																				0.612	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1		Silent	T	54875936	C	T	54875936	5	4	41	1	0	0	0	0	0	0	1	0	8602	724	25	4	863	4	LAIR1	19	54875936	Splice_Site	SNP	C	TCGA-KN-8426-01A-11D-2310-10	10375586	54875936	4253047	79	3037											
FAM83D	81610	ucsc.edu	37	chr20	37555032	37555032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattcaaaggttgcctataAagcgggactgcacgccggtt	10	10	12	9	3	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	4	5			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr20:37555032A>G	ENST00000217429.4	+	1	78	c.37A>G	c.(37-39)Aag>Gag	p.K13E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	0					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GTTGCCTATAAAGCGGGACTG	0.657											OREG0025936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													22	26	25					20																	37555032		1874	4097	5971	SO:0001583	missense	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.37A>G	20.37:g.37555032A>G	ENSP00000217429:p.Lys13Glu	871	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.773002	0.49680	.	.	ENSG00000101447	ENST00000217429	T	0.12774	2.65	4.54	4.54	0.55810	.	2.012680	0.03311	N	0.190501	T	0.15522	0.0374	.	.	.	0.21740	N	0.999564	.	.	.	.	.	.	T	0.23619	-1.0183	7	0.36615	T	0.2	.	8.6845	0.34229	0.8302:0.0:0.0:0.1698	.	.	.	.	E	13	ENSP00000217429:K13E	ENSP00000217429:K13E	K	+	1	0	FAM83D	36988446	.	.	0.944000	0.38274	0.040000	0.13550	.	.	1.907000	0.55213	0.379000	0.24179	AAG		0.657	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			G	37555032	A	G	37555032	3	3	41	1	0	0	0	0	1	0	0	0	5636	15	1	4	39	4	FAM83D	20	37555032	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10		37555032	25470488	80	3038											
MYH9	4627	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	36697638	36697638	+	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	ccgcagccagctgcttctctCtgaccttcaccagctcctcc	5	10	6	20	1	3	1	1	1	2	0	6	1	5	1	6	0	4	4	6	0	0	2			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr22:36697638C>T	ENST00000216181.5	-	21	2803	c.2573G>A	c.(2572-2574)aGa>aAa	p.R858K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	858					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						CTGCTTCTCTCTGACCTTCAC	0.617			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.		Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													162	113	130					22																	36697638		2202	4300	6502	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		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.2573G>A	22.37:g.36697638C>T	ENSP00000216181:p.Arg858Lys	864	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347139	0.24426	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.81499	-1.5	5.78	4.56	0.56223	.	0.176467	0.46442	D	0.000300	T	0.46210	0.1381	N	0.01624	-0.795	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55140	-0.8187	10	0.02654	T	1	.	4.3193	0.11009	0.0:0.701:0.0:0.299	.	858	P35579	MYH9_HUMAN	K	722;858	ENSP00000216181:R858K	ENSP00000216181:R858K	R	-	2	0	MYH9	35027584	0.984000	0.35163	0.958000	0.39756	0.962000	0.63368	2.570000	0.45981	2.894000	0.99253	0.655000	0.94253	AGA		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36697638	C	T	36697638	3	4	41	1	0	0	0	0	1	0	0	0	10042	913	32	4	3393	4	MYH9	22	36697638	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10		36697638	14606928	81	3039											
TNRC6B	23112	broad.mit.edu	37	chr22	40552184	40552184	+	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	cctcctggtgaagaaagcaaAcagtgagtcacagtttattt	13	11	9	8	0	1	3	1	2	0	1	2	3	2	3	2	1	2	2	2	1	4	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr22:40552184A>G	ENST00000301923.9	+	4	413	c.111A>G	c.(109-111)aaA>aaG	p.K37K	TNRC6B_ENST00000402203.1_Silent_p.K37K	NM_001024843.1	NP_001020014.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	0	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						AAGAAAGCAAACAGTGAGTCA	0.448																																						.											0													62	59	60					22																	40552184		1939	4160	6099	SO:0001819	synonymous_variant	23112			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	ENST00000301923.9:c.111A>G	22.37:g.40552184A>G			B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000301923.9	37	CCDS46712.1																																																																																				0.448	TNRC6B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321393.1			G	40552184	A	G	40552184	2	3	41	1	0	0	0	0	0	0	0	1	16338	40	2	2		2	TNRC6B	22	40552184	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10	3854546	40552184	10752382	82	3040											
DNAJB7	150353	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	41257713	41257713	+	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	atgaaaaatttctttaaaaaCatcatctggcttatggaatg	16	14	6	5	0	3	1	1	1	2	0	3	2	3	2	0	2	1	1	0	2	7	4			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chr22:41257713C>A	ENST00000307221.4	-	1	417	c.286G>T	c.(286-288)Gtt>Ttt	p.V96F	XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	96							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TCTTTAAAAACATCATCTGGC	0.378																																						.											0													100	101	100					22																	41257713		2203	4300	6503	SO:0001583	missense	150353			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.286G>T	22.37:g.41257713C>A	ENSP00000307197:p.Val96Phe		Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.880043	0.33162	.	.	ENSG00000172404	ENST00000307221	T	0.79554	-1.28	4.7	1.53	0.23141	.	0.000000	0.48767	D	0.000178	D	0.84297	0.5441	M	0.90483	3.12	0.80722	D	1	P	0.38420	0.63	P	0.44561	0.453	D	0.83658	0.0159	10	0.72032	D	0.01	.	8.6484	0.34020	0.0:0.7435:0.0:0.2565	.	96	Q7Z6W7	DNJB7_HUMAN	F	96	ENSP00000307197:V96F	ENSP00000307197:V96F	V	-	1	0	DNAJB7	39587659	0.310000	0.24527	0.958000	0.39756	0.006000	0.05464	0.405000	0.21015	0.478000	0.27488	-0.218000	0.12543	GTT		0.378	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		A	41257713	C	A	41257713	3	1	41	1	0	0	0	0	1	0	0	0	4625	478	17	5	647	5	DNAJB7	22	41257713	Missense_Mutation	SNP	C	TCGA-KN-8426-01A-11D-2310-10	705529	41257713	10046853	83	3041											
PHKA1	5255	broad.mit.edu	37	chrX	71925084	71925084	+	Missense_Mutation	SNP	T	T	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	gcagtagtcctctcatcagcTtcactacactctgcagaaat	11	11	6	13	0	4	1	3	0	2	1	6	1	5	1	1	0	3	4	1	0	3	3			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:71925084T>C	ENST00000373542.4	-	3	407	c.248A>G	c.(247-249)aAg>aGg	p.K83R	PHKA1_ENST00000339490.3_Missense_Mutation_p.K83R|PHKA1_ENST00000373539.3_Missense_Mutation_p.K83R|PHKA1_ENST00000541944.1_Missense_Mutation_p.K83R|PHKA1_ENST00000373545.3_Missense_Mutation_p.K83R|PHKA1-AS1_ENST00000420998.1_RNA	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	83					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)					TCTCATCAGCTTCACTACACT	0.393																																						.											0													148	119	129					X																	71925084		2203	4300	6503	SO:0001583	missense	5255				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.248A>G	X.37:g.71925084T>C	ENSP00000362643:p.Lys83Arg		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.047418	0.75846	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	3.85	3.85	0.44370	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.106591	0.64402	D	0.000006	D	0.95133	0.8423	M	0.88512	2.96	0.58432	D	0.999999	D;P;D	0.76494	0.999;0.918;0.997	D;P;D	0.79784	0.987;0.834;0.993	D	0.95033	0.8171	10	0.66056	D	0.02	-30.5936	9.9189	0.41453	0.0:0.0:0.0:1.0	.	83;83;83	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	R	83	ENSP00000362646:K83R;ENSP00000362643:K83R;ENSP00000441251:K83R;ENSP00000342469:K83R;ENSP00000362640:K83R	ENSP00000342469:K83R	K	-	2	0	PHKA1	71841809	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.689000	0.84165	1.531000	0.49152	0.433000	0.28618	AAG		0.393	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			C	71925084	T	C	71925084	3	2	41	1	0	0	0	0	1	0	0	0	11843	1609	56	2	3543	2	PHKA1	23	71925084	Missense_Mutation	SNP	T	TCGA-KN-8426-01A-11D-2310-10		71925084	83345476	84	3042											
RLIM	51132	mdanderson.org	37	chrX	73811695	73811695	+	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	aaatctgagctagtttctgaActttcaccaccggaactgga	12	11	8	10	1	3	2	1	2	2	0	3	4	3	4	2	2	3	2	2	2	4	3	rs374955178		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:73811695A>G	ENST00000332687.6	-	4	1673	c.1455T>C	c.(1453-1455)agT>agC	p.S485S	RLIM_ENST00000349225.2_Silent_p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	485	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						TAGTTTCTGAACTTTCACCAc	0.493																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	.											0													35	32	33					X																	73811695		2203	4300	6503	SO:0001819	synonymous_variant	51132			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.1455T>C	X.37:g.73811695A>G			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.493	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		G	73811695	A	G	73811695	2	3	41	1	0	0	0	0	0	0	0	1	13390	40	2	2		2	RLIM	23	73811695	Silent	SNP	A	TCGA-KN-8426-01A-11D-2310-10	1886611	73811695	81458865	85	3043			2	31		4	3	67	N	G_C_A	1.812788e-08
RLIM	51132	mdanderson.org	37	chrX	73811739	73811739	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactggaactggaacttgAactggaactggaactcgaac	14	7	12	8	1	0	1	0	1	0	0	1	7	0	6	0	5	6	0	0	5	6	1	rs201164156		TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:73811739A>G	ENST00000332687.6	-	4	1629	c.1411T>C	c.(1411-1413)Tca>Cca	p.S471P	RLIM_ENST00000349225.2_Missense_Mutation_p.S471P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	471	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						ctggaacttgaactggaactg	0.483																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	.											0																																										SO:0001583	missense	51132			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.1411T>C	X.37:g.73811739A>G	ENSP00000328059:p.Ser471Pro		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.619369	0.00118	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	D;D	0.85258	-1.96;-1.96	1.66	0.0881	0.14453	.	0.638142	0.11946	U	0.514165	T	0.59032	0.2164	N	0.08118	0	0.09310	N	1	P	0.44734	0.842	B	0.29267	0.1	T	0.56607	-0.7951	10	0.34782	T	0.22	-0.2213	3.7245	0.08469	0.5962:0.4038:0.0:0.0	.	471	Q9NVW2	RNF12_HUMAN	P	471	ENSP00000328059:S471P;ENSP00000253571:S471P	ENSP00000328059:S471P	S	-	1	0	RLIM	73728464	0.991000	0.36638	0.012000	0.15200	0.011000	0.07611	0.068000	0.14531	0.675000	0.31264	0.441000	0.28932	TCA		0.483	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		G	73811739	A	G	73811739	3	3	41	1	0	0	0	0	1	0	0	0	13390	246	9	4	467	4	RLIM	23	73811739	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	44	73811739	81458821	86	3044			2	31		4	3	67	N	G_C_A	1.812788e-08
RLIM	51132	mdanderson.org	37	chrX	73811755	73811755	+	Silent	SNP	C	C	G																															cttgaactggaactggaactCgaactggaactggaactcga																								rs7883332	byFrequency	TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:73811755C>G	ENST00000332687.6	-	4	1613	c.1395G>C	c.(1393-1395)tcG>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													t|||	47	0.0124503	0.0265	0.0029	3775	,	,		15935	0		0.006	False		,,,				2504	0.0041				Esophageal Squamous(169;1899 1923 14997 18818 32118)	.											0													43	43	43					X																	73811755		2203	4300	6503	SO:0001819	synonymous_variant	51132			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.1395G>C	X.37:g.73811755C>G			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	C	G	73811755	2	3	41	1	0	0	0	0	0	0	0	1	13390	871	31	5		5	RLIM	23	73811755	Silent	SNP	C	TCGA-KN-8426-01A-11D-2310-10	16	73811755	81458805	87	3045	89	2	2	31		4	3	67	N	G_C_A	1.812788e-08
RLIM	51132	mdanderson.org	37	chrX	73811761	73811761	+	Silent	SNP	G	G	T																															ctggaactggaactcgaactGgaactggaactcgaactgga																										TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:73811761G>T	ENST00000332687.6	-	4	1607	c.1389C>A	c.(1387-1389)tcC>tcA	p.S463S	RLIM_ENST00000349225.2_Silent_p.S463S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	463	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						aactcgaactggaactggaac	0.473																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	.											0													46	46	46					X																	73811761		2203	4300	6503	SO:0001819	synonymous_variant	51132			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.1389C>A	X.37:g.73811761G>T			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.473	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		T	73811761	G	T	73811761	2	4	41	1	0	0	0	0	0	0	0	1	13390	1335	47	5		5	RLIM	23	73811761	Silent	SNP	G	TCGA-KN-8426-01A-11D-2310-10	6	73811761	81458799	88	3046	89	2	2	31		4	3	67	N	G_C_A	1.812788e-08
RGAG1	57529	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	109696984	109696984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatgccactaccaagaGccacagcctctggatgtggc	9	7	10	15	0	1	1	0	0	1	1	1	2	1	2	5	2	5	0	5	2	2	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:109696984G>T	ENST00000465301.2	+	3	3385	c.3139G>T	c.(3139-3141)Gcc>Tcc	p.A1047S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A1047S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1047										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						ACTACCAAGAGCCACAGCCTC	0.547																																						.											0													84	80	82					X																	109696984		2203	4300	6503	SO:0001583	missense	57529			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.3139G>T	X.37:g.109696984G>T	ENSP00000419786:p.Ala1047Ser		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	7.001	0.554883	0.13436	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.55052	0.54;0.54	4.41	-0.846	0.10734	.	.	.	.	.	T	0.37100	0.0991	L	0.47716	1.5	0.09310	N	1	B	0.33171	0.4	B	0.33960	0.173	T	0.25537	-1.0129	8	.	.	.	-0.5503	0.8352	0.01138	0.3054:0.2935:0.2499:0.1512	.	1047	Q8NET4	RGAG1_HUMAN	S	1047;1047;608	ENSP00000419786:A1047S;ENSP00000441452:A1047S	.	A	+	1	0	RGAG1	109583640	0.000000	0.05858	0.017000	0.16124	0.821000	0.46438	0.204000	0.17335	-0.325000	0.08577	0.600000	0.82982	GCC		0.547	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		T	109696984	G	T	109696984	3	4	41	1	0	0	0	0	1	0	0	0	13274	971	34	5	3141	5	RGAG1	23	109696984	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	35885223	109696984	45573576	89	3047											
FLNA	2316	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	153588714	153588714	+	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	agggaaccacgtgggccttgAatggggagccagggatgtgg	9	6	19	7	1	0	1	0	1	0	0	0	4	0	4	3	6	2	0	3	6	2	1			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:153588714A>T	ENST00000369850.3	-	22	3685	c.3449T>A	c.(3448-3450)tTc>tAc	p.F1150Y	FLNA_ENST00000360319.4_Missense_Mutation_p.F1150Y|FLNA_ENST00000422373.1_Missense_Mutation_p.F1150Y|FLNA_ENST00000344736.4_Missense_Mutation_p.F1150Y|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1150					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)					GTGGGCCTTGAATGGGGAGCC	0.617											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											0													62	73	69					X																	153588714		2145	4213	6358	SO:0001583	missense	2316			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.3449T>A	X.37:g.153588714A>T	ENSP00000358866:p.Phe1150Tyr	1756	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958476	0.74016	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.92	4.92	0.64577	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.93135	0.7814	M	0.80422	2.495	0.80722	D	1	P;D	0.89917	0.7;1.0	D;D	0.87578	0.91;0.998	D	0.93663	0.6983	10	0.59425	D	0.04	.	13.8267	0.63354	1.0:0.0:0.0:0.0	.	1150;1150	P21333-2;P21333	.;FLNA_HUMAN	Y	1150;1123;1150;1150;1150	ENSP00000353467:F1150Y;ENSP00000416926:F1150Y;ENSP00000358866:F1150Y;ENSP00000358863:F1150Y	ENSP00000358863:F1150Y	F	-	2	0	FLNA	153241908	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	7.383000	0.79741	1.640000	0.50565	0.427000	0.28365	TTC		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			T	153588714	A	T	153588714	3	4	41	1	0	0	0	0	1	0	0	0	5933	246	9	5	4602	5	FLNA	23	153588714	Missense_Mutation	SNP	A	TCGA-KN-8426-01A-11D-2310-10	43891730	153588714	1681846	90	3048											
IL9R	3581	mdanderson.org	37	chrX	155239602	155239602	+	Missense_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	gctcacttgtggcccagcgcGtccttggaaatctgtggccc	5	10	12	14	2	2	0	1	0	1	0	3	1	3	1	3	3	1	1	3	3	1	2			TCGA-KN-8426-01A-11D-2310-10	TCGA-KN-8426-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a3deafcb-b54f-4b7e-89ac-c92c16fb919f	fb5c34ce-5b82-4bd7-a195-5f0c2dab07d4	g.chrX:155239602G>A	ENST00000244174.5	+	9	1273	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.R344H	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	365			R -> H (in dbSNP:rs2228650).		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)					GGCCCAGCGCGTCCTTGGAAA	0.662																																						.											0													42	70	62					X																	155239602		1941	4257	6198	SO:0001583	missense	3581			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.1094G>A	X.37:g.155239602G>A	ENSP00000244174:p.Arg365His		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	130	0.05952380952380952	42	0.08536585365853659	11	0.03038674033149171	50	0.08741258741258741	27	0.03562005277044855	N	0.057	-1.234707	0.01505	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10099	2.91;2.91	1.44	0.201	0.15186	.	5.140280	0.00520	N	0.000181	T	0.00241	0.0007	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	9	0.13470	T	0.59	-9.2578	3.2156	0.06697	0.7419:0.0:0.2581:0.0	.	365	Q01113	IL9R_HUMAN	H	365;344	ENSP00000244174:R365H;ENSP00000388918:R344H	ENSP00000244174:R365H	R	+	2	0	IL9R	154892796	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.579000	0.05834	-0.003000	0.14444	-1.144000	0.01866	CGT		0.662	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		A	155239602	G	A	155239602	3	1	41	1	0	0	0	0	1	0	0	0	7708	1145	40	1	1128	1	IL9R	23	155239602	Missense_Mutation	SNP	G	TCGA-KN-8426-01A-11D-2310-10	1650888	155239602	30958	91	3049											
EXOSC10	5394	bcgsc.ca	37	chr1	11151122	11151122	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaagattttaggaagaaAtggtgtgttggaattgtcaa	14	13	13	1	0	1	3	1	1	0	2	1	6	1	5	0	3	0	1	0	3	6	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:11151122A>G	ENST00000376936.4	-	5	641	c.592T>C	c.(592-594)Ttt>Ctt	p.F198L	EXOSC10_ENST00000304457.7_Missense_Mutation_p.F198L|EXOSC10_ENST00000544779.1_Missense_Mutation_p.F198L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	198					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTAGGAAGAAATGGTGTGTTG	0.393																																					Colon(179;105 1987 14326 27364 29542)	.											0													278	274	275					1																	11151122		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.592T>C	1.37:g.11151122A>G	ENSP00000366135:p.Phe198Leu		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	A	35	5.561878	0.96527	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.73	5.73	0.89815	Ribonuclease H-like (1);	0.045838	0.85682	D	0.000000	D	0.85835	0.5789	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.89086	0.3479	9	0.72032	D	0.01	-20.0071	15.4929	0.75624	1.0:0.0:0.0:0.0	.	198;198	Q01780-2;Q01780	.;EXOSX_HUMAN	L	198	.	ENSP00000307307:F198L	F	-	1	0	EXOSC10	11073709	1.000000	0.71417	0.916000	0.36221	0.994000	0.84299	9.062000	0.93920	2.308000	0.77769	0.533000	0.62120	TTT		0.393	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		G	11151122	A	G	11151122	3	3	42	1	0	0	0	0	1	0	0	0	5314	101	4	4	2149	4	EXOSC10	1	11151122	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10		11151122	238099499	1	3050											
SPEN	23013	hgsc.bcm.edu;ucsc.edu	37	chr1	16256119	16256119	+	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	caaggaccagagagagaagaCgttaggaaaaactattgcag	18	5	12	6	1	0	3	0	0	0	3	0	7	0	5	1	2	2	2	1	2	6	3	rs140864111	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:16256119C>T	ENST00000375759.3	+	11	3588	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1128					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)		AGAGAGAAGACGTTAGGAAAA	0.398													C|||	2	0.000399361	0.0015	0	5008	,	,		22161	0		0	False		,,,				2504	0					.											0								C		9,4397	15.5+/-35.6	0,9,2194	38	39	39		3384	-2.2	0.2	1	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	SPEN	NM_015001.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1128/3665	16256119	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	23013				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.3384C>T	1.37:g.16256119C>T			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16256119	C	T	16256119	2	4	42	1	0	0	0	0	0	0	0	1	15037	535	19	1		1	SPEN	1	16256119	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	5104997	16256119	232994502	2	3051											
CSMD2	114784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	34209065	34209065	+	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	tcaaactgaggctccacgtcAatgtcgttgaaggccaggtg	10	9	12	10	2	2	2	2	2	0	0	4	2	3	2	2	3	1	2	2	3	3	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:34209065A>G	ENST00000373381.4	-	14	2165	c.1989T>C	c.(1987-1989)atT>atC	p.I663I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	623	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)				GCTCCACGTCAATGTCGTTGA	0.602																																						.											0													84	85	85					1																	34209065		2203	4300	6503	SO:0001819	synonymous_variant	114784			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.1989T>C	1.37:g.34209065A>G			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		G	34209065	A	G	34209065	2	3	42	1	0	0	0	0	0	0	0	1	3945	126	5	4		4	CSMD2	1	34209065	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	17952946	34209065	215041556	3	3052											
CYP4X1	260293	bcgsc.ca	37	chr1	47498964	47498964	+	Missense_Mutation	SNP	T	T	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	gtggttccagcatcgtcgccTactaactcctggattccatt	7	13	8	13	2	0	0	0	0	0	0	5	1	3	1	4	2	3	2	4	2	2	5			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:47498964T>C	ENST00000371901.3	+	4	666	c.416T>C	c.(415-417)cTa>cCa	p.L139P	CYP4X1_ENST00000538609.1_Missense_Mutation_p.L138P	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	139						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATCGTCGCCTACTAACTCCT	0.428																																						.											0													129	109	116					1																	47498964		2203	4300	6503	SO:0001583	missense	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.416T>C	1.37:g.47498964T>C	ENSP00000360968:p.Leu139Pro		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	CCDS544.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117048	0.77323	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.71579	-0.58;-0.58	5.91	5.91	0.95273	.	0.072152	0.56097	D	0.000024	D	0.88273	0.6392	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.91184	0.4978	10	0.87932	D	0	.	16.0082	0.80377	0.0:0.0:0.0:1.0	.	139;138	Q8N118;G3V1U1	CP4X1_HUMAN;.	P	138;139	ENSP00000445965:L138P;ENSP00000360968:L139P	ENSP00000360968:L139P	L	+	2	0	CYP4X1	47271551	0.997000	0.39634	0.430000	0.26722	0.672000	0.39443	7.370000	0.79589	2.262000	0.75019	0.482000	0.46254	CTA		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		C	47498964	T	C	47498964	3	2	42	1	0	0	0	0	1	0	0	0	4193	1522	53	2	430	2	CYP4X1	1	47498964	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	13289899	47498964	201751657	4	3053											
SYT6	148281	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	114680520	114680520	+	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	agctcttggtggcctcagacTtggcatcctccccatccacc	6	10	8	17	0	2	1	1	0	1	1	5	1	5	1	6	3	1	2	6	3	0	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:114680520T>G	ENST00000610222.1	-	3	814	c.668A>C	c.(667-669)aAg>aCg	p.K223T	SYT6_ENST00000609117.1_Missense_Mutation_p.K138T|SYT6_ENST00000393296.1_Missense_Mutation_p.K223T|SYT6_ENST00000369547.1_Missense_Mutation_p.K138T|SYT6_ENST00000607941.1_Missense_Mutation_p.K138T			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	223					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		GGCCTCAGACTTGGCATCCTC	0.557																																						.											0													134	115	121					1																	114680520		2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.668A>C	1.37:g.114680520T>G	ENSP00000476396:p.Lys223Thr		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	T	15.72	2.917199	0.52546	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.56	5.56	0.83823	C2 calcium/lipid-binding domain, CaLB (1);	0.098347	0.64402	D	0.000002	T	0.04092	0.0114	L	0.39633	1.23	0.80722	D	1	B	0.13594	0.008	B	0.16289	0.015	T	0.30268	-0.9984	10	0.33940	T	0.23	.	15.72	0.77700	0.0:0.0:0.0:1.0	.	223	Q5T7P8	SYT6_HUMAN	T	138;223;138;223	ENSP00000358560:K138T;ENSP00000376974:K223T;ENSP00000358559:K138T;ENSP00000358558:K223T	ENSP00000358558:K223T	K	-	2	0	SYT6	114482043	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	8.017000	0.88712	2.117000	0.64856	0.533000	0.62120	AAG		0.557	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		G	114680520	T	G	114680520	3	3	42	1	0	0	0	0	1	0	0	0	15475	1609	56	5	884	5	SYT6	1	114680520	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	67181556	114680520	134570101	5	3054											
NRAS	4893	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	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-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	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)																												.		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	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)											180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	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		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	42	1	0	0	0	0	1	0	0	0	10640	1386	48	5	400	5	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	576010	115256530	133994091	6	3055											
FLG	2312	mdanderson.org	37	chr1	152284806	152284806	+	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	tgctcgtggtgggacccctgCcttcctcttctgcttgaccc	2	13	10	16	1	2	1	0	1	2	0	4	2	3	2	5	2	3	2	5	2	0	3	rs71625190		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:152284806C>T	ENST00000368799.1	-	3	2591	c.2556G>A	c.(2554-2556)agG>agA	p.R852R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	852	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)			GGGACCCCTGCCTTCCTCTTC	0.602									Ichthyosis																													.											0													334	330	331					1																	152284806		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.2556G>A	1.37:g.152284806C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152284806	C	T	152284806	2	4	42	1	0	0	0	0	0	0	0	1	5922	738	26	3		3	FLG	1	152284806	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	37028276	152284806	96965815	7	3056											
CRNN	49860	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	152382811	152382811	+	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	tgcttgctggttcttcctgtCtggtggctgctgtcctgctc	0	17	12	12	0	2	0	0	0	2	0	5	0	4	0	2	3	4	6	2	3	0	3	rs574082627		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:152382811C>A	ENST00000271835.3	-	3	809	c.747G>T	c.(745-747)caG>caT	p.Q249H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	249	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTCCTGTCTGGTGGCTGC	0.597																																						.											0													243	248	247					1																	152382811		2203	4300	6503	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.747G>T	1.37:g.152382811C>A	ENSP00000271835:p.Gln249His		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616492	0.28801	.	.	ENSG00000143536	ENST00000271835	T	0.05855	3.38	4.83	-2.35	0.06684	.	0.382752	0.22584	N	0.058163	T	0.01156	0.0038	L	0.43152	1.355	0.09310	N	1	P	0.36199	0.543	B	0.32533	0.147	T	0.47711	-0.9096	10	0.23302	T	0.38	.	2.9523	0.05866	0.1338:0.3258:0.386:0.1545	.	249	Q9UBG3	CRNN_HUMAN	H	249	ENSP00000271835:Q249H	ENSP00000271835:Q249H	Q	-	3	2	CRNN	150649435	0.138000	0.22547	0.000000	0.03702	0.229000	0.25112	-0.018000	0.12568	-0.673000	0.05259	0.585000	0.79938	CAG		0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		A	152382811	C	A	152382811	3	1	42	1	0	0	0	0	1	0	0	0	3892	912	32	5	744	5	CRNN	1	152382811	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	98005	152382811	96867810	8	3057											
EFNA4	1945	hgsc.bcm.edu;mdanderson.org	37	chr1	155036407	155036407	+	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	gtctactggaactccagtaaCcccaggtagccgggccgaac	10	6	11	14	2	1	0	0	0	1	0	2	2	2	1	5	3	5	2	5	3	5	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:155036407C>T	ENST00000368409.3	+	1	201	c.108C>T	c.(106-108)aaC>aaT	p.N36N	EFNA4_ENST00000427683.2_Silent_p.N36N|EFNA4_ENST00000359751.4_Silent_p.N36N|EFNA3_ENST00000505139.1_Silent_p.N36N|EFNA3_ENST00000556931.1_Silent_p.N36N	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	36	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACTCCAGTAACCCCAGGTAGC	0.726																																						.											0													6	8	7					1																	155036407		2152	4192	6344	SO:0001819	synonymous_variant	1945			AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"Ephrins"	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.108C>T	1.37:g.155036407C>T			C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Silent	SNP	ENST00000368409.3	37	CCDS1089.1																																																																																				0.726	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085421.2	NM_005227		T	155036407	C	T	155036407	2	4	42	1	0	0	0	0	0	0	0	1	4953	506	18	3		3	EFNA4	1	155036407	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	2653596	155036407	94214214	9	3058											
SPTA1	6708	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	158596633	158596633	+	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	acctgacacatcatacctatCcaagcctctaccacatcagc	13	8	3	17	0	3	1	2	1	1	0	4	1	4	1	5	0	4	0	5	0	4	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:158596633C>T	ENST00000368147.4	-	41	6009	c.5829G>A	c.(5827-5829)tgG>tgA	p.W1943*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1943					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)					TCATACCTATCCAAGCCTCTA	0.453																																						.											0													124	125	125					1																	158596633		1887	4111	5998	SO:0001587	stop_gained	6708			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.5829G>A	1.37:g.158596633C>T	ENSP00000357129:p.Trp1943*		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	47	13.469828	0.99744	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.41	5.41	0.78517	.	0.000000	0.30410	N	0.009696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9494	0.89047	0.0:1.0:0.0:0.0	.	.	.	.	X	1943;1940	.	ENSP00000357129:W1940X	W	-	3	0	SPTA1	156863257	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.089000	0.76909	2.816000	0.96949	0.563000	0.77884	TGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158596633	C	T	158596633	4	4	42	1	0	0	0	0	0	1	0	0	15115	856	30	3	1478	3	SPTA1	1	158596633	Nonsense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	3560226	158596633	90653988	10	3059											
COPA	1314	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr1	160275563	160275563	+	Splice_Site	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	atcttcacagatgccagagtCctgagatagatagagatgtg	13	10	11	7	0	2	5	1	1	1	5	3	7	3	5	2	0	1	0	2	0	2	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:160275563C>G	ENST00000241704.7	-	16	1672	c.1443G>C	c.(1441-1443)cgG>cgC	p.R481R	COPA_ENST00000368069.3_Splice_Site_p.R481R	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	481					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)			ATGCCAGAGTCCTGAGATAGA	0.398																																						.											0													113	108	110					1																	160275563		2203	4300	6503	SO:0001630	splice_region_variant	1314			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.1443-1G>C	1.37:g.160275563C>G			Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	CCDS1202.1																																																																																				0.398	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Silent	G	160275563	C	G	160275563	5	3	42	1	0	0	0	0	0	0	1	0	3727	869	30	5	2330	5	COPA	1	160275563	Splice_Site	SNP	C	TCGA-KN-8427-01A-11D-2310-10	1678930	160275563	88975058	11	3060											
GPR161	23432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	168066296	168066296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgtgtagccaggctcccgGtgccaagcagccacacacat	9	5	11	16	2	0	0	0	0	0	0	1	0	1	0	5	2	4	3	5	2	2	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:168066296G>T	ENST00000367838.1	-	5	862	c.549C>A	c.(547-549)caC>caA	p.H183Q	GPR161_ENST00000537209.1_Missense_Mutation_p.H203Q|GPR161_ENST00000546300.1_Missense_Mutation_p.H69Q|GPR161_ENST00000367836.1_Missense_Mutation_p.H51Q|GPR161_ENST00000361697.2_Missense_Mutation_p.H183Q|GPR161_ENST00000539777.1_Missense_Mutation_p.H105Q|GPR161_ENST00000367835.1_Missense_Mutation_p.H183Q|GPR161_ENST00000271357.5_Missense_Mutation_p.H183Q	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	183					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CAGGCTCCCGGTGCCAAGCAG	0.587																																						.											0													71	57	62					1																	168066296		2203	4300	6503	SO:0001583	missense	23432			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.549C>A	1.37:g.168066296G>T	ENSP00000356812:p.His183Gln		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426971	0.43122	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.07	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.47190	1.495	0.45129	D	0.998149	D;D;D;B;D;D	0.71674	0.976;0.996;0.998;0.356;0.962;0.996	P;P;D;B;B;P	0.64776	0.561;0.852;0.929;0.147;0.253;0.852	T	0.14282	-1.0478	9	0.29301	T	0.29	-32.4148	9.0699	0.36486	0.0784:0.0:0.7731:0.1485	.	203;69;105;203;183;183	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	Q	183;183;51;183;69;105;203;183	ENSP00000356812:H183Q;ENSP00000271357:H183Q;ENSP00000356810:H51Q;ENSP00000356809:H183Q;ENSP00000444348:H69Q;ENSP00000437576:H105Q;ENSP00000441039:H203Q;ENSP00000355194:H183Q	ENSP00000271357:H183Q	H	-	3	2	GPR161	166332920	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.356000	0.59430	1.207000	0.43291	0.561000	0.74099	CAC		0.587	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		T	168066296	G	T	168066296	3	4	42	1	0	0	0	0	1	0	0	0	6665	1252	44	5	1056	5	GPR161	1	168066296	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	7790733	168066296	81184325	12	3061											
FMO3	2328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	171072967	171072967	+	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	gctagcatttacaaatcagtCttttccaactcttccaaaga	13	13	4	11	0	3	1	1	0	2	1	5	1	5	1	2	0	3	2	2	0	5	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:171072967C>T	ENST00000367755.4	+	3	285	c.174C>T	c.(172-174)gtC>gtT	p.V58V	FMO3_ENST00000538429.1_Intron|FMO3_ENST00000392085.2_Silent_p.V58V|FMO3_ENST00000542847.1_Silent_p.V38V|MIR1295A_ENST00000408463.1_RNA	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	58					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ACAAATCAGTCTTTTCCAACT	0.423																																						.											0													169	164	166					1																	171072967		2203	4300	6503	SO:0001819	synonymous_variant	2328			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.174C>T	1.37:g.171072967C>T			B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	CCDS1292.1																																																																																				0.423	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		T	171072967	C	T	171072967	2	4	42	1	0	0	0	0	0	0	0	1	5956	900	32	4		4	FMO3	1	171072967	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	3006671	171072967	78177654	13	3062											
PAPPA2	60676	hgsc.bcm.edu;ucsc.edu	37	chr1	176709219	176709219	+	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	tcagtgctgctgaatttctcAtccccacgggtcggcatctc	6	12	9	14	2	3	1	2	1	2	0	7	1	4	1	2	2	2	3	2	2	1	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:176709219A>C	ENST00000367662.3	+	14	5202	c.4038A>C	c.(4036-4038)tcA>tcC	p.S1346S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1346					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						TGAATTTCTCATCCCCACGGG	0.522																																						.											0													188	184	185					1																	176709219		2032	4187	6219	SO:0001819	synonymous_variant	60676			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.4038A>C	1.37:g.176709219A>C			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			C	176709219	A	C	176709219	2	2	42	1	0	0	0	0	0	0	0	1	11433	204	8	5		5	PAPPA2	1	176709219	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	5636252	176709219	72541402	14	3063											
F13B	2165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	197026583	197026583	+	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	gcagaggtggaggaggacatCtgtttcttcttccttatgga	8	13	13	7	0	3	1	0	0	3	1	4	5	4	5	1	5	0	2	1	5	1	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:197026583C>T	ENST00000367412.1	-	6	861	c.818G>A	c.(817-819)aGa>aAa	p.R273K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	273	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGGAGGACATCTGTTTCTTCT	0.294																																						.											0													149	129	136					1																	197026583		2203	4300	6503	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.818G>A	1.37:g.197026583C>T	ENSP00000356382:p.Arg273Lys		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539171	0.27475	.	.	ENSG00000143278	ENST00000367412	T	0.70399	-0.48	5.65	5.65	0.86999	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.29692	N	0.011460	T	0.47875	0.1469	N	0.12920	0.275	0.32124	N	0.587586	B	0.23540	0.087	B	0.28011	0.085	T	0.50268	-0.8848	10	0.06236	T	0.91	.	7.3866	0.26886	0.0:0.801:0.0:0.199	.	273	P05160	F13B_HUMAN	K	273	ENSP00000356382:R273K	ENSP00000356382:R273K	R	-	2	0	F13B	195293206	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.294000	0.51787	2.655000	0.90218	0.655000	0.94253	AGA		0.294	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		T	197026583	C	T	197026583	3	4	42	1	0	0	0	0	1	0	0	0	5341	913	32	4	1195	4	F13B	1	197026583	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	20317364	197026583	52224038	15	3064											
TIMM17A	10440	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	201934576	201934576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatggaccagtggccaTggttgggtcagccgcaatgg	8	9	15	9	1	2	1	2	0	0	1	2	2	2	2	3	5	1	2	3	5	1	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:201934576T>C	ENST00000367287.4	+	5	371	c.335T>C	c.(334-336)aTg>aCg	p.M112T	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	112					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						CCAGTGGCCATGGTTGGGTCA	0.408																																						.											0													116	116	116					1																	201934576		2203	4300	6503	SO:0001583	missense	10440			AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.335T>C	1.37:g.201934576T>C	ENSP00000356256:p.Met112Thr		B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470423	0.63625	.	.	ENSG00000134375	ENST00000367287	T	0.32272	1.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	M	0.65677	2.01	0.80722	D	1	P	0.45634	0.863	P	0.49953	0.627	T	0.32241	-0.9914	10	0.44086	T	0.13	-0.0327	13.5811	0.61903	0.0:0.0:0.0:1.0	.	112	Q99595	TI17A_HUMAN	T	112	ENSP00000356256:M112T	ENSP00000356256:M112T	M	+	2	0	TIMM17A	200201199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.620000	0.83070	2.151000	0.67156	0.533000	0.62120	ATG		0.408	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335		C	201934576	T	C	201934576	3	2	42	1	0	0	0	0	1	0	0	0	15905	1464	51	4	353	4	TIMM17A	1	201934576	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	4907993	201934576	47316045	16	3065											
OBSCN	84033	mdanderson.org;bcgsc.ca	37	chr1	228433197	228433197	+	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	ccactgccatgctgagctgtGaggtggcccagccccagaca	8	6	12	15	0	0	3	0	2	0	1	0	3	0	3	5	2	4	2	5	2	0	0			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:228433197G>C	ENST00000422127.1	+	12	3609	c.3565G>C	c.(3565-3567)Gag>Cag	p.E1189Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.E1281Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1189Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1189	Ig-like 12.				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)				GCTGAGCTGTGAGGTGGCCCA	0.597																																						.											0													81	81	81					1																	228433197		2092	4205	6297	SO:0001583	missense	84033			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.3565G>C	1.37:g.228433197G>C	ENSP00000409493:p.Glu1189Gln		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	.	.	.	.	.	.	.	.	.	.	.	12.34	1.907297	0.33628	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66995	-0.24;-0.24	4.39	2.32	0.28847	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133963	0.49305	D	0.000157	T	0.74145	0.3678	L	0.45744	1.44	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.74348	0.963;0.983	T	0.74225	-0.3734	10	0.46703	T	0.11	.	13.6689	0.62412	0.0:0.2958:0.7042:0.0	.	1189;1189	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1189	ENSP00000284548:E1189Q;ENSP00000409493:E1189Q	ENSP00000284548:E1189Q	E	+	1	0	OBSCN	226499820	1.000000	0.71417	0.959000	0.39883	0.262000	0.26303	3.976000	0.56867	0.822000	0.34565	0.306000	0.20318	GAG		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228433197	G	C	228433197	3	2	42	1	0	0	0	0	1	0	0	0	10812	1291	45	5	3607	5	OBSCN	1	228433197	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	26498621	228433197	20817424	17	3066											
OR2T27	403239	mdanderson.org	37	chr1	248813271	248813271	+	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	cctgaggacacacacctcccCacaaccttctgtagggcccc	9	6	7	19	0	1	1	0	1	1	0	2	2	2	2	7	2	1	1	7	2	2	2	rs2802081	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:248813271C>A	ENST00000344889.3	-	1	914	c.915G>T	c.(913-915)gtG>gtT	p.V305V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACCTCCCCACAACCTTCT	0.443													c|||	332	0.0662939	0.025	0.0749	5008	,	,		20910	0.0615		0.1074	False		,,,				2504	0.0787					.											0													65	69	68					1																	248813271		2180	4274	6454	SO:0001819	synonymous_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.915G>T	1.37:g.248813271C>A				Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																				0.443	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		A	248813271	C	A	248813271	2	1	42	1	0	0	0	0	0	0	0	1	11021	581	21	5		5	OR2T27	1	248813271	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	20380074	248813271	437350	18	3067											
WDR35	57539	hgsc.bcm.edu;ucsc.edu	37	chr2	20189771	20189771	+	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	actttcttgctcaggtagaaGaacatcgtgggatccccgag	10	10	11	10	2	2	2	1	0	1	2	4	4	3	3	2	2	2	2	2	2	3	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:20189771G>A	ENST00000345530.3	-	1	121	c.6C>T	c.(4-6)ttC>ttT	p.F2F	AC079145.4_ENST00000416575.1_RNA|WDR35_ENST00000281405.4_Silent_p.F2F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	2					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)					TCAGGTAGAAGAACATCGTGG	0.617																																						.											0													81	69	73					2																	20189771		2203	4300	6503	SO:0001819	synonymous_variant	57539			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.6C>T	2.37:g.20189771G>A			B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																				0.617	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		A	20189771	G	A	20189771	2	1	42	1	0	0	0	0	0	0	0	1	17286	933	33	4		4	WDR35	2	20189771	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10		20189771	223009602	19	3068											
EPT1	85465	broad.mit.edu;mdanderson.org	37	chr2	26596325	26596325	+	Missense_Mutation	SNP	T	T	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	cctggatagttggtcatgtgTttactttgttgtgactgttt	5	20	11	5	0	1	1	1	1	0	0	1	2	1	2	1	2	1	4	1	2	2	7			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:26596325T>C	ENST00000260585.7	+	5	520	c.401T>C	c.(400-402)gTt>gCt	p.V134A		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	134					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)										TGGTCATGTGTTTACTTTGTT	0.423																																						.											0													154	147	149					2																	26596325		1919	4133	6052	SO:0001583	missense	85465				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.401T>C	2.37:g.26596325T>C	ENSP00000260585:p.Val134Ala		Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.416932	0.62511	.	.	ENSG00000138018	ENST00000442141;ENST00000260585	T;T	0.43294	0.95;0.95	5.97	5.97	0.96955	.	0.213778	0.49305	D	0.000152	T	0.35364	0.0929	L	0.38953	1.18	0.58432	D	0.999994	P	0.35684	0.515	B	0.37387	0.248	T	0.10497	-1.0627	10	0.15952	T	0.53	0.0353	15.2692	0.73686	0.0:0.0:0.0:1.0	.	134	Q9C0D9	EPT1_HUMAN	A	102;134	ENSP00000415280:V102A;ENSP00000260585:V134A	ENSP00000260585:V134A	V	+	2	0	EPT1	26449829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.790000	0.85794	2.281000	0.76405	0.528000	0.53228	GTT		0.423	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		C	26596325	T	C	26596325	3	2	42	1	0	0	0	0	1	0	0	0	5199	1725	60	2	419	2	EPT1	2	26596325	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	6406554	26596325	216603048	20	3069											
FOXN2	3344	broad.mit.edu	37	chr2	48602092	48602092	+	Frame_Shift_Del	DEL	A	A	-																															tcctcttaaaacagcattgcAaaaaaagaggagttacggca																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	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																																						.											0													60	56	57					2																	48602092		2203	4300	6503	SO:0001589	frameshift_variant	3344				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		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	42	1	0	1	0	1	0	0	0	0	6020	130	5	0	824	0	FOXN2	2	48602092	Frame_Shift_Del	DEL	A	TCGA-KN-8427-01A-11D-2310-10	22005767	48602092	194597281	21	3070											
AFTPH	54812	broad.mit.edu	37	chr2	64779179	64779179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggtttgcagtgttggaaActgtaaatcctcagggaaca	12	11	12	6	0	1	0	1	0	0	0	2	2	2	2	1	3	3	4	1	3	4	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:64779179A>G	ENST00000422803.1	+	2	885	c.571A>G	c.(571-573)Act>Gct	p.T191A	AFTPH_ENST00000409933.1_Missense_Mutation_p.T191A|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.T191A|AFTPH_ENST00000238856.4_Missense_Mutation_p.T191A			Q6ULP2	AFTIN_HUMAN	aftiphilin	191					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						AGTGTTGGAAACTGTAAATCC	0.408																																						.											0													98	92	94					2																	64779179		2203	4300	6503	SO:0001583	missense	54812			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.571A>G	2.37:g.64779179A>G	ENSP00000397726:p.Thr191Ala		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	A	13.97	2.395228	0.42512	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.78	5.78	0.91487	.	0.060058	0.64402	D	0.000006	T	0.44912	0.1316	L	0.50333	1.59	0.29016	N	0.886606	D;D;D;D	0.67145	0.972;0.972;0.972;0.996	P;P;P;D	0.76071	0.673;0.673;0.673;0.987	T	0.43065	-0.9414	10	0.34782	T	0.22	-12.7051	8.3488	0.32290	0.7333:0.1436:0.0:0.1231	.	191;191;191;191	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	A	191	ENSP00000238856:T191A;ENSP00000397726:T191A;ENSP00000238855:T191A;ENSP00000387071:T191A	ENSP00000238855:T191A	T	+	1	0	AFTPH	64632683	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.826000	0.39092	2.333000	0.79357	0.482000	0.46254	ACT		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		G	64779179	A	G	64779179	3	3	42	1	0	0	0	0	1	0	0	0	364	43	2	2	573	2	AFTPH	2	64779179	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	16177087	64779179	178420194	22	3071											
RMND5A	64795	bcgsc.ca	37	chr2	86993084	86993084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgggctgatatctgtgAcatctttacacgggatgctt	8	13	11	9	1	2	2	0	2	2	0	2	3	2	3	1	2	2	2	1	2	2	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:86993084A>G	ENST00000283632.4	+	6	1286	c.791A>G	c.(790-792)gAc>gGc	p.D264G	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	264										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GATATCTGTGACATCTTTACA	0.483																																						.											0													170	145	154					2																	86993084		2203	4300	6503	SO:0001583	missense	64795			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.791A>G	2.37:g.86993084A>G	ENSP00000283632:p.Asp264Gly		D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629806	0.67015	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.42	5.42	0.78866	Ran binding protein-like, CRA domain (1);	0.136762	0.49916	D	0.000125	T	0.68869	0.3048	M	0.76838	2.35	0.58432	D	0.999999	B	0.33940	0.433	B	0.41946	0.371	T	0.66995	-0.5782	9	0.25751	T	0.34	-14.9569	15.5303	0.75956	1.0:0.0:0.0:0.0	.	264	Q9H871	RMD5A_HUMAN	G	264	.	ENSP00000283632:D264G	D	+	2	0	RMND5A	86846595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.074000	0.62210	0.529000	0.55759	GAC		0.483	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		G	86993084	A	G	86993084	3	3	42	1	0	0	0	0	1	0	0	0	13397	275	10	2	813	2	RMND5A	2	86993084	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	22213905	86993084	156206289	23	3072											
PROM2	150696	broad.mit.edu	37	chr2	95944771	95944771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagccggaaggggtgAggacactggctgaagggttc	9	5	17	10	1	0	2	0	2	0	0	1	4	0	4	2	6	2	3	2	6	2	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:95944771A>G	ENST00000317620.9	+	10	1286	c.1153A>G	c.(1153-1155)Agg>Ggg	p.R385G	PROM2_ENST00000542147.1_Missense_Mutation_p.R385G|PROM2_ENST00000403131.2_Missense_Mutation_p.R385G|PROM2_ENST00000317668.4_Missense_Mutation_p.R385G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	385					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						GGAAGGGGTGAGGACACTGGC	0.657																																						.											0													37	40	39					2																	95944771		2201	4300	6501	SO:0001583	missense	150696			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.1153A>G	2.37:g.95944771A>G	ENSP00000318270:p.Arg385Gly		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	A	9.663	1.144612	0.21288	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.94	2.51	0.30379	.	0.521662	0.19916	N	0.103189	T	0.37293	0.0998	L	0.54323	1.7	0.33255	D	0.558947	B	0.27013	0.166	B	0.28916	0.096	T	0.39057	-0.9632	10	0.27785	T	0.31	-10.1149	4.6092	0.12392	0.7015:0.1981:0.1004:0.0	.	385	Q8N271	PROM2_HUMAN	G	385	ENSP00000385716:R385G;ENSP00000318520:R385G;ENSP00000318270:R385G;ENSP00000442542:R385G	ENSP00000318270:R385G	R	+	1	2	PROM2	95308498	0.109000	0.22037	0.893000	0.35052	0.262000	0.26303	1.777000	0.38604	0.811000	0.34303	0.496000	0.49642	AGG		0.657	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		G	95944771	A	G	95944771	3	3	42	1	0	0	0	0	1	0	0	0	12556	295	11	2	1191	2	PROM2	2	95944771	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	8951687	95944771	147254602	24	3073											
KYNU	8942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	143713785	143713785	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgcagttatcattttttaAgcctacgccaaaacgatata	14	14	5	8	2	1	0	1	0	0	0	1	1	1	0	2	0	4	2	2	0	7	8			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:143713785A>G	ENST00000264170.4	+	6	707	c.449A>G	c.(448-450)aAg>aGg	p.K150R	KYNU_ENST00000375773.2_Missense_Mutation_p.K150R|KYNU_ENST00000409512.1_Missense_Mutation_p.K150R	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TCATTTTTTAAGCCTACGCCA	0.289																																						.											0													85	85	85					2																	143713785		2203	4298	6501	SO:0001583	missense	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.449A>G	2.37:g.143713785A>G	ENSP00000264170:p.Lys150Arg			Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	A	3.590	-0.083860	0.07141	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.54479	0.57;0.57;0.57	4.76	4.76	0.60689	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.053541	0.64402	D	0.000001	T	0.27900	0.0687	N	0.12443	0.215	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.15870	0.012;0.014	T	0.14896	-1.0456	10	0.02654	T	1	.	9.1649	0.37046	0.9171:0.0:0.0829:0.0	.	150;150	Q16719;Q9BVW3	KYNU_HUMAN;.	R	150	ENSP00000264170:K150R;ENSP00000364928:K150R;ENSP00000386731:K150R	ENSP00000264170:K150R	K	+	2	0	KYNU	143430255	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.398000	0.66308	1.912000	0.55364	0.482000	0.46254	AAG		0.289	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		G	143713785	A	G	143713785	3	3	42	1	0	0	0	0	1	0	0	0	8587	72	3	2	467	2	KYNU	2	143713785	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	47769014	143713785	99485588	25	3074											
MBD5	55777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	149247532	149247532	+	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	aggggagcgaaacaggtggaAgtacgaggaatttttagatc	14	8	15	4	2	0	1	0	0	0	1	1	6	0	4	0	5	3	1	0	5	5	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:149247532A>C	ENST00000407073.1	+	12	4629	c.3632A>C	c.(3631-3633)aAg>aCg	p.K1211T	MBD5_ENST00000404807.1_Missense_Mutation_p.K1444T	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1211					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACAGGTGGAAGTACGAGGAA	0.488																																						.											0													116	109	112					2																	149247532		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3632A>C	2.37:g.149247532A>C	ENSP00000386049:p.Lys1211Thr		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905528	0.52333	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.73;0.72	6.01	4.87	0.63330	.	0.084798	0.50627	D	0.000113	T	0.35393	0.0930	N	0.24115	0.695	0.34601	D	0.716486	B;B	0.25312	0.123;0.123	B;B	0.24974	0.057;0.034	T	0.47032	-0.9148	10	0.87932	D	0	-4.5836	11.9889	0.53163	0.9328:0.0:0.0672:0.0	.	1444;1211	E9PHH0;Q9P267	.;MBD5_HUMAN	T	1211;1444	ENSP00000386049:K1211T;ENSP00000384672:K1444T	ENSP00000384672:K1444T	K	+	2	0	MBD5	148964002	1.000000	0.71417	0.899000	0.35326	0.989000	0.77384	4.135000	0.57997	1.107000	0.41642	0.533000	0.62120	AAG		0.488	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			C	149247532	A	C	149247532	3	2	42	1	0	0	0	0	1	0	0	0	9347	72	3	5	3658	5	MBD5	2	149247532	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	5533747	149247532	93951841	26	3075											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	179437087	179437087	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctgcgagaaccctgAaatagtagctacagccttct	11	12	7	11	1	2	2	0	1	2	1	2	3	2	2	2	0	5	2	2	0	5	6	rs371513695		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:179437087A>G	ENST00000591111.1	-	276	69073	c.68849T>C	c.(68848-68850)tTc>tCc	p.F22950S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F15651S|TTN_ENST00000460472.2_Missense_Mutation_p.F15526S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F24591S|TTN_ENST00000342175.6_Missense_Mutation_p.F15718S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F22023S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22950	Fibronectin type-III 66. {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)			GAGAACCCTGAAATAGTAGCT	0.448																																						.											0													80	75	77					2																	179437087		1888	4117	6005	SO:0001583	missense	7273			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.68849T>C	2.37:g.179437087A>G	ENSP00000465570:p.Phe22950Ser		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	13.65	2.301097	0.40694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89487	0.6729	H	0.99834	4.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94293	0.7530	9	0.87932	D	0	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	15526;15651;15718;22950	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	22023;15526;15718;15651;15524	ENSP00000343764:F22023S;ENSP00000434586:F15526S;ENSP00000340554:F15718S;ENSP00000352154:F15651S	ENSP00000340554:F15718S	F	-	2	0	TTN	179145333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.330000	0.79161	0.528000	0.53228	TTC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179437087	A	G	179437087	3	3	42	1	0	0	0	0	1	0	0	0	16732	246	9	4	34355	4	TTN	2	179437087	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	30189555	179437087	63762286	27	3076											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr2	179644742	179644742	+	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	ctcacctgatcttctacataAgttctgaccactacagtatc	11	13	4	13	0	4	2	1	2	3	0	5	2	4	2	2	0	2	2	2	0	4	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:179644742A>C	ENST00000591111.1	-	22	3938	c.3714T>G	c.(3712-3714)acT>acG	p.T1238T	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.T1192T|TTN_ENST00000460472.2_Silent_p.T1192T|TTN_ENST00000589042.1_Silent_p.T1238T|TTN_ENST00000342175.6_Silent_p.T1192T|TTN_ENST00000342992.6_Silent_p.T1238T|TTN_ENST00000360870.5_Silent_p.T1238T			Q8WZ42	TITIN_HUMAN	titin	33443					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)	p.T1192T(5)|p.T1238T(4)		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)			CTTCTACATAAGTTCTGACCA	0.308																																						.											9	Substitution - coding silent(9)	large_intestine(5)|stomach(4)											126	115	119					2																	179644742		2203	4300	6503	SO:0001819	synonymous_variant	7273			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.3714T>G	2.37:g.179644742A>C			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																																																																																					0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179644742	A	C	179644742	2	2	42	1	0	0	0	0	0	0	0	1	16732	59	3	5		5	TTN	2	179644742	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	207655	179644742	63554631	28	3077											
ARL4C	10123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	235404686	235404686	+	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	tctgcttgagggacttcctgCgtttcaggatcatctcatag	7	14	10	10	1	4	1	3	1	2	0	6	3	5	3	1	2	2	2	1	2	1	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:235404686C>T	ENST00000390645.2	-	1	1011	c.545G>A	c.(544-546)cGc>cAc	p.R182H	ARL4C_ENST00000339728.3_Missense_Mutation_p.R182H	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	182					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R182H(1)		endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGACTTCCTGCGTTTCAGGAT	0.587																																					Esophageal Squamous(157;1837 2534 13028 22831)	.											1	Substitution - Missense(1)	endometrium(1)											47	49	48					2																	235404686		1982	4166	6148	SO:0001583	missense	10123			AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	698	protein-coding gene	gene with protein product		604787	"ADP-ribosylation factor-like 7"	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.545G>A	2.37:g.235404686C>T	ENSP00000375057:p.Arg182His		Q4A519|Q53R10|Q9BVN1|Q9UQ34	Missense_Mutation	SNP	ENST00000390645.2	37	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243610	0.79912	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	D;D	0.82619	-1.63;-1.63	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	M	0.62016	1.91	0.51233	D	0.999917	D;D	0.71674	0.995;0.998	P;D	0.69479	0.84;0.964	D	0.90399	0.4401	10	0.72032	D	0.01	-13.4275	15.5234	0.75881	0.0:1.0:0.0:0.0	.	182;182	P56559;Q4A519	ARL4C_HUMAN;.	H	182	ENSP00000375057:R182H;ENSP00000339754:R182H	ENSP00000339754:R182H	R	-	2	0	ARL4C	235069425	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.544000	0.82117	2.066000	0.61787	0.557000	0.71058	CGC		0.587	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			T	235404686	C	T	235404686	3	4	42	1	0	0	0	0	1	0	0	0	937	768	27	1	37	1	ARL4C	2	235404686	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	55759944	235404686	7794687	29	3078											
GRM7	2917	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	7620544	7620544	+	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	tcctgatgattgccaaaccaGatgtggcagtgtgttctttc	8	14	10	9	0	1	3	0	2	1	1	3	3	2	3	3	1	2	2	3	1	1	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:7620544G>C	ENST00000357716.4	+	8	2225	c.1951G>C	c.(1951-1953)Gat>Cat	p.D651H	GRM7_ENST00000402647.2_Missense_Mutation_p.D651H|GRM7_ENST00000403881.1_Missense_Mutation_p.D651H|GRM7_ENST00000486284.1_Missense_Mutation_p.D651H|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.D651H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	651					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGCCAAACCAGATGTGGCAGT	0.478																																						.											0													136	128	131					3																	7620544		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1951G>C	3.37:g.7620544G>C	ENSP00000350348:p.Asp651His		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104349	0.37145	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.047392	0.85682	D	0.000000	D	0.87394	0.6166	N	0.21373	0.66	0.49483	D	0.999798	P;P;D;P;P	0.59357	0.46;0.527;0.985;0.582;0.483	P;P;P;P;P	0.54759	0.537;0.508;0.76;0.641;0.594	D	0.87304	0.2307	10	0.49607	T	0.09	.	13.197	0.59745	0.0762:0.0:0.9238:0.0	.	651;651;406;651;651	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	H	651	ENSP00000350348:D651H;ENSP00000417536:D651H;ENSP00000373987:D651H;ENSP00000385664:D651H;ENSP00000384585:D651H	ENSP00000350348:D651H	D	+	1	0	GRM7	7595544	1.000000	0.71417	0.292000	0.24919	0.286000	0.27126	4.229000	0.58625	2.826000	0.97356	0.655000	0.94253	GAT		0.478	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		C	7620544	G	C	7620544	3	2	42	1	0	0	0	0	1	0	0	0	6802	942	33	5	1981	5	GRM7	3	7620544	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10		7620544	190401886	30	3079											
ZNF445	353274	broad.mit.edu	37	chr3	44489837	44489837	+	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	ctctgatgtaggctgaagccCccaatcatgtgtctgagccc	8	10	10	13	0	3	3	1	3	2	0	3	3	3	3	3	1	2	2	3	1	3	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:44489837C>T	ENST00000396077.2	-	8	1673	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	ZNF445_ENST00000425708.2_Silent_p.G442G	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	442					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGCTGAAGCCCCCAATCATGT	0.463																																						.											0													135	137	136					3																	44489837		2203	4300	6503	SO:0001819	synonymous_variant	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1326G>A	3.37:g.44489837C>T			Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																				0.463	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		T	44489837	C	T	44489837	2	4	42	1	0	0	0	0	0	0	0	1	17915	610	22	3		3	ZNF445	3	44489837	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	36869293	44489837	153532593	31	3080											
SCAP	22937	broad.mit.edu	37	chr3	47462126	47462126	+	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	ggagccgcaggtttcggaagGaagacggctgcaacgtgatg	10	6	17	8	4	0	2	0	1	0	1	1	5	0	5	1	5	3	4	1	5	3	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:47462126G>A	ENST00000265565.5	-	12	1893	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	SCAP_ENST00000441517.2_Missense_Mutation_p.S239F|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000545718.1_Missense_Mutation_p.S102F	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	494					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)		GTTTCGGAAGGAAGACGGCTG	0.662											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)	.											0													61	60	60					3																	47462126		2203	4300	6503	SO:0001583	missense	22937			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.1481C>T	3.37:g.47462126G>A	ENSP00000265565:p.Ser494Phe	947	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290168	0.80914	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718;ENST00000383739	T;T;T	0.81415	-1.49;-1.47;0.66	5.03	5.03	0.67393	.	0.058967	0.64402	D	0.000002	T	0.72020	0.3409	L	0.47716	1.5	0.54753	D	0.999987	B;B	0.33583	0.418;0.06	B;B	0.26864	0.074;0.031	T	0.69942	-0.5008	10	0.08599	T	0.76	-33.3333	18.138	0.89627	0.0:0.0:1.0:0.0	.	239;494	F8W921;Q12770	.;SCAP_HUMAN	F	121;494;239;102;187	ENSP00000265565:S494F;ENSP00000416847:S239F;ENSP00000438956:S102F	ENSP00000265565:S494F	S	-	2	0	SCAP	47437130	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.349000	0.97066	2.629000	0.89072	0.462000	0.41574	TCC		0.662	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		A	47462126	G	A	47462126	3	1	42	1	0	0	0	0	1	0	0	0	13877	1174	41	3	2406	3	SCAP	3	47462126	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	2972289	47462126	150560304	32	3081											
ABI3BP	25890	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	100515270	100515270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaggttcgctctgagagAcctcagggtatggtttatga	9	12	12	8	1	2	3	1	2	1	1	3	4	2	3	2	3	1	4	2	3	3	5			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:100515270A>G	ENST00000284322.5	-	21	1899	c.1790T>C	c.(1789-1791)gTc>gCc	p.V597A	ABI3BP_ENST00000383691.4_Missense_Mutation_p.V551A|ABI3BP_ENST00000471714.1_Missense_Mutation_p.V1274A	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	597	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTCTGAGAGACCTCAGGGTA	0.328																																						.											0													71	67	68					3																	100515270		1799	4072	5871	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1790T>C	3.37:g.100515270A>G	ENSP00000284322:p.Val597Ala		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.55|14.55	2.569658|2.569658	0.45798|0.45798	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901;ENST00000527943|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000383691;ENST00000486770	.|T;T;T	.|0.56275	.|2.11;0.47;1.57	5.49|5.49	3.01|3.01	0.34805|0.34805	.|.	.|0.464387	.|0.21184	.|N	.|0.078775	T|T	0.44286|0.44286	0.1286|0.1286	L|L	0.58101|0.58101	1.795|1.795	0.23023|0.23023	N|N	0.99841|0.99841	.|P;B;P;P	.|0.47762	.|0.622;0.148;0.9;0.842	.|B;B;B;B	.|0.44224	.|0.152;0.089;0.444;0.366	T|T	0.29518|0.29518	-1.0009|-1.0009	5|10	.|0.11794	.|T	.|0.64	-0.6107|-0.6107	6.1652|6.1652	0.20386|0.20386	0.6701:0.1687:0.0:0.1612|0.6701:0.1687:0.0:0.1612	.|.	.|551;597;1274;281	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	P|A	653;177;103|1274;597;281;551;35	.|ENSP00000420524:V1274A;ENSP00000284322:V597A;ENSP00000373189:V551A	.|ENSP00000284322:V597A	S|V	-|-	1|2	0|0	ABI3BP|ABI3BP	101997960|101997960	0.434000|0.434000	0.25570|0.25570	0.924000|0.924000	0.36721|0.36721	0.935000|0.935000	0.57460|0.57460	0.985000|0.985000	0.29578|0.29578	0.336000|0.336000	0.23639|0.23639	0.477000|0.477000	0.44152|0.44152	TCT|GTC		0.328	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			G	100515270	A	G	100515270	3	3	42	1	0	0	0	0	1	0	0	0	91	275	10	2	1497	2	ABI3BP	3	100515270	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	53053144	100515270	97507160	33	3082											
WWTR1	25937	mdanderson.org	37	chr3	149374873	149374873	+	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	ccccagccagtcgaggccccGggtggccgcccgacgagtcg	5	3	15	18	6	0	0	0	0	0	0	2	3	0	0	7	3	1	0	7	3	0	0	rs1055153	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:149374873G>T	ENST00000465804.1	-	3	477	c.221C>A	c.(220-222)cCg>cAg	p.P74Q	WWTR1_ENST00000467467.1_Missense_Mutation_p.P74Q|WWTR1-AS1_ENST00000479752.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.P74Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	74					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)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCGAGGCCCCGGGTGGCCGCC	0.711			T	CAMTA1	epitheliod hemangioendothelioma								G|||	370	0.0738818	0.0582	0.0418	5008	,	,		12401	0.1478		0.0666	False		,,,				2504	0.0491					.		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0								G	GLN/PRO,GLN/PRO,GLN/PRO	230,4124		5,220,1952	7	8	8		221,221,221	5.1	1	3	dbSNP_86	8	553,7949		28,497,3726	no	missense,missense,missense	WWTR1	NM_001168278.1,NM_001168280.1,NM_015472.4	76,76,76	33,717,5678	TT,TG,GG		6.5044,5.2825,6.0905	probably-damaging,probably-damaging,probably-damaging	74/401,74/401,74/401	149374873	783,12073	2177	4251	6428	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.221C>A	3.37:g.149374873G>T	ENSP00000419465:p.Pro74Gln		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	159	0.07280219780219781	30	0.06097560975609756	14	0.03867403314917127	58	0.10139860139860139	57	0.07519788918205805	G	25.8	4.671276	0.88348	0.052825	0.065044	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352;ENST00000475579	T;T;T;T	0.45276	0.9;0.9;0.9;0.91	5.09	5.09	0.68999	.	0.076177	0.52532	D	0.000076	T	0.02380	0.0073	L	0.43152	1.355	0.09310	P	0.99999795331	D	0.76494	0.999	D	0.72625	0.978	T	0.02339	-1.1174	9	0.12103	T	0.63	-17.8884	18.1077	0.89525	0.0:0.0:1.0:0.0	rs1055153;rs3195644;rs1055153	74	Q9GZV5	WWTR1_HUMAN	Q	74	ENSP00000419465:P74Q;ENSP00000353847:P74Q;ENSP00000419234:P74Q;ENSP00000418580:P74Q	ENSP00000353847:P74Q	P	-	2	0	WWTR1	150857563	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.329000	0.65892	2.360000	0.80028	0.462000	0.41574	CCG		0.711	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		T	149374873	G	T	149374873	3	4	42	1	0	0	0	0	1	0	0	0	17414	1116	39	5	1005	5	WWTR1	3	149374873	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	48859603	149374873	48647557	34	3083											
GPR87	53836	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	151012813	151012813	+	Missense_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	tgagatagaatatgaagctgGttttattcctaatgtggaag	13	14	11	3	0	0	3	0	2	0	2	1	5	1	4	1	2	1	2	1	2	7	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:151012813G>A	ENST00000260843.4	-	3	685	c.221C>T	c.(220-222)aCc>aTc	p.T74I	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	74					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)			TATGAAGCTGGTTTTATTCCT	0.403																																						.											0													97	98	98					3																	151012813		2203	4300	6503	SO:0001583	missense	53836			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.221C>T	3.37:g.151012813G>A	ENSP00000260843:p.Thr74Ile		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662431	0.88251	.	.	ENSG00000138271	ENST00000260843	T	0.21361	2.01	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.066355	0.64402	D	0.000008	T	0.38295	0.1035	M	0.73430	2.235	0.58432	D	0.999991	P	0.47484	0.896	P	0.48598	0.583	T	0.32508	-0.9904	10	0.87932	D	0	-12.6765	19.3303	0.94283	0.0:0.0:1.0:0.0	.	74	Q9BY21	GPR87_HUMAN	I	74	ENSP00000260843:T74I	ENSP00000260843:T74I	T	-	2	0	GPR87	152495503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.248000	0.72418	2.632000	0.89209	0.655000	0.94253	ACC		0.403	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			A	151012813	G	A	151012813	3	1	42	1	0	0	0	0	1	0	0	0	6716	1261	44	3	859	3	GPR87	3	151012813	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	1637940	151012813	47009617	35	3084											
FGFBP2	83888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	15964500	15964500	+	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	gtaaggtttggggtcagcagCgaaagcctggcacatgctgg	9	8	16	8	1	1	0	1	0	0	0	1	1	1	0	1	5	4	5	1	5	2	2	rs111244757		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:15964500C>T	ENST00000259989.6	-	1	359	c.253G>A	c.(253-255)Gct>Act	p.A85T	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	85						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGTCAGCAGCGAAAGCCTGG	0.622																																						.											0													54	54	54					4																	15964500		2203	4300	6503	SO:0001583	missense	83888			AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.253G>A	4.37:g.15964500C>T	ENSP00000259989:p.Ala85Thr			Missense_Mutation	SNP	ENST00000259989.6	37	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.743909	0.00675	.	.	ENSG00000137441	ENST00000259989	T	0.13778	2.56	2.98	-1.37	0.09056	.	114.197000	0.00397	N	0.000044	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	10	0.10902	T	0.67	.	4.6434	0.12560	0.0:0.2269:0.3136:0.4596	.	85	Q9BYJ0	FGFP2_HUMAN	T	85	ENSP00000259989:A85T	ENSP00000259989:A85T	A	-	1	0	FGFBP2	15573598	0.223000	0.23663	0.000000	0.03702	0.007000	0.05969	0.337000	0.19841	-0.608000	0.05731	-0.127000	0.14921	GCT		0.622	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		T	15964500	C	T	15964500	3	4	42	1	0	0	0	0	1	0	0	0	5861	768	27	1	422	1	FGFBP2	4	15964500	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		15964500	175189776	36	3085											
NHEDC1	150159	mdanderson.org	37	chr4	103870578	103870578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaccatatcacaaacagtAtaactcctgaaatacaaaaa	21	8	2	10	0	1	1	1	1	0	0	2	1	2	1	2	0	4	1	2	0	9	5	rs79959710	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:103870578A>G	ENST00000296422.7	-	4	359	c.218T>C	c.(217-219)aTa>aCa	p.I73T	SLC9B1_ENST00000394789.3_Missense_Mutation_p.I73T	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	73					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)										CACAAACAGTATAACTCCTGA	0.323																																						.											0													51	49	49					4																	103870578		2151	4281	6432	SO:0001583	missense	150159			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.218T>C	4.37:g.103870578A>G	ENSP00000296422:p.Ile73Thr		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	A	8.103	0.777074	0.16120	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000452285	T;T	0.19532	2.14;2.14	3.85	-0.0813	0.13703	.	1.453490	0.04415	N	0.366611	T	0.24198	0.0586	L	0.58583	1.82	0.09310	N	1	B;B	0.17038	0.02;0.01	B;B	0.18263	0.021;0.012	T	0.36939	-0.9727	10	0.44086	T	0.13	0.0195	9.4384	0.38653	0.3713:0.0:0.6287:0.0	.	73;73	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	T	73	ENSP00000378269:I73T;ENSP00000296422:I73T	ENSP00000296422:I73T	I	-	2	0	SLC9B1	104090027	0.001000	0.12720	0.002000	0.10522	0.173000	0.22820	1.267000	0.33050	-0.082000	0.12640	-0.451000	0.05528	ATA		0.323	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		G	103870578	A	G	103870578	3	3	42	1	0	0	0	0	1	0	0	0	10400	449	16	4	1465	4	NHEDC1	4	103870578	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	87906078	103870578	87283698	37	3086											
LEF1	51176	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	109084842	109084842	+	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	gtcccttgttgtagaggcctCcatctggatgctttcctggg	4	14	12	11	0	1	1	0	0	1	1	4	2	4	2	4	3	1	3	4	3	1	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:109084842C>G	ENST00000265165.1	-	3	950	c.296G>C	c.(295-297)gGa>gCa	p.G99A	LEF1_ENST00000438313.2_Missense_Mutation_p.G99A|LEF1_ENST00000512172.1_Missense_Mutation_p.G31A|LEF1_ENST00000379951.2_Missense_Mutation_p.G99A|LEF1_ENST00000510624.1_Missense_Mutation_p.G31A	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	99	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|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 proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|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)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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 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 regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GTAGAGGCCTCCATCTGGATG	0.388																																						.											0													120	109	113					4																	109084842		2203	4300	6503	SO:0001583	missense	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.296G>C	4.37:g.109084842C>G	ENSP00000265165:p.Gly99Ala		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968790	0.53614	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99338	-5.63;-5.76;-5.75;-5.54	5.83	5.83	0.93111	CTNNB1 binding, N-teminal (1);	0.222920	0.47093	D	0.000246	D	0.97654	0.9231	L	0.33339	1.005	0.41780	D	0.989819	B;P;B;B	0.37864	0.351;0.61;0.243;0.221	B;B;B;B	0.39771	0.203;0.198;0.287;0.309	D	0.97727	1.0200	10	0.35671	T	0.21	-6.0885	15.2407	0.73468	0.0:0.9313:0.0:0.0687	.	31;99;99;99	E9PDK3;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;LEF1_HUMAN	A	99;99;99;31;31;31	ENSP00000265165:G99A;ENSP00000369284:G99A;ENSP00000406176:G99A;ENSP00000422840:G31A	ENSP00000265165:G99A	G	-	2	0	LEF1	109304291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.157000	0.58144	2.763000	0.94921	0.563000	0.77884	GGA		0.388	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			G	109084842	C	G	109084842	3	3	42	1	0	0	0	0	1	0	0	0	8714	855	30	5	1023	5	LEF1	4	109084842	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	5214264	109084842	82069434	38	3087											
MARCH1	55016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	164466780	164466780	+	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	cttgcttgatttcctccgctGtccggtctatcaatacatac	7	15	6	13	2	2	1	1	1	1	0	5	1	5	1	3	1	3	2	3	1	4	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:164466780G>C	ENST00000503008.1	-	7	1515	c.539C>G	c.(538-540)aCa>aGa	p.T180R	MARCH1_ENST00000339875.5_Missense_Mutation_p.T163R|MARCH1_ENST00000514618.1_Missense_Mutation_p.T436R|MARCH1_ENST00000274056.7_Missense_Mutation_p.T180R	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	180					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCCTCCGCTGTCCGGTCTAT	0.438																																						.											0													238	181	200					4																	164466780		2203	4300	6503	SO:0001583	missense	55016			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.539C>G	4.37:g.164466780G>C	ENSP00000427223:p.Thr180Arg		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296636	0.81025	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.35236	1.77;1.77;1.32;1.38	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.59998	0.2235	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.76071	0.987;0.835	T	0.62599	-0.6820	10	0.56958	D	0.05	.	18.346	0.90322	0.0:0.0:1.0:0.0	.	180;163	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	R	180;180;436;163	ENSP00000274056:T180R;ENSP00000427223:T180R;ENSP00000421322:T436R;ENSP00000345676:T163R	ENSP00000274056:T180R	T	-	2	0	MARCH1	164686230	1.000000	0.71417	0.412000	0.26496	0.600000	0.36913	9.476000	0.97823	2.331000	0.79229	0.655000	0.94253	ACA		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		C	164466780	G	C	164466780	3	2	42	1	0	0	0	0	1	0	0	0	9298	1377	48	5	338	5	MARCH1	4	164466780	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	55381938	164466780	26687496	39	3088											
FRG1	2483	mdanderson.org	37	chr4	190878571	190878571	+	Missense_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	aggggaaaatggctttgttgGcctcaaatagctgctttatt	10	14	11	6	0	1	0	1	0	0	0	1	1	1	1	1	4	2	4	1	4	5	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:190878571G>A	ENST00000226798.4	+	6	673	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	151					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTTTGTTGGCCTCAAATAG	0.353																																						.											0													13	18	16					4																	190878571		2149	4265	6414	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.451G>A	4.37:g.190878571G>A	ENSP00000226798:p.Ala151Thr		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.048689	0.75846	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.51071	1.88;0.72	4.19	4.19	0.49359	Actin cross-linking (1);	0.051971	0.85682	D	0.000000	T	0.59756	0.2217	M	0.82193	2.58	0.80722	D	1	P	0.43519	0.809	P	0.49226	0.603	T	0.61836	-0.6981	10	0.27785	T	0.31	-16.5099	14.4711	0.67517	0.0:0.0:1.0:0.0	.	151	Q14331	FRG1_HUMAN	T	151;23;88	ENSP00000226798:A151T;ENSP00000435943:A88T	ENSP00000226798:A151T	A	+	1	0	FRG1	191115565	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.545000	0.98095	2.063000	0.61619	0.454000	0.30748	GCC		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190878571	G	A	190878571	3	1	42	1	0	0	0	0	1	0	0	0	6046	1203	42	3	473	3	FRG1	4	190878571	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	26411791	190878571	275705	40	3089											
MAP1B	4131	bcgsc.ca	37	chr5	71493198	71493198	+	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	tcacacaccttactatcaatCtcctactgacgagaaatcca	14	10	3	14	1	3	2	2	1	1	1	5	3	4	2	3	0	2	0	3	0	5	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:71493198C>T	ENST00000296755.7	+	5	4314	c.4016C>T	c.(4015-4017)tCt>tTt	p.S1339F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1339					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)		TACTATCAATCTCCTACTGAC	0.458																																					Melanoma(17;367 822 11631 31730 47712)	.											0													68	67	68					5																	71493198		2203	4300	6503	SO:0001583	missense	4131			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.4016C>T	5.37:g.71493198C>T	ENSP00000296755:p.Ser1339Phe		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234964	0.58886	.	.	ENSG00000131711	ENST00000296755	T	0.04406	3.63	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000007	T	0.15046	0.0363	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.01065	-1.1463	10	0.87932	D	0	-14.8862	19.877	0.96880	0.0:1.0:0.0:0.0	.	1213;1339	A2BDK6;P46821	.;MAP1B_HUMAN	F	1339	ENSP00000296755:S1339F	ENSP00000296755:S1339F	S	+	2	0	MAP1B	71528954	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.487000	0.81328	2.709000	0.92574	0.561000	0.74099	TCT		0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71493198	C	T	71493198	3	4	42	1	0	0	0	0	1	0	0	0	9228	913	32	4	4034	4	MAP1B	5	71493198	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		71493198	109422062	41	3090											
MCTP1	79772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	94046552	94046552	+	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	ggacaatgtatctcagcggaAtgcagtacaggatggctgtg	11	9	14	7	1	1	0	1	0	1	0	2	3	1	3	0	4	3	4	0	4	4	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:94046552A>C	ENST00000515393.1	-	21	2800	c.2801T>G	c.(2800-2802)aTt>aGt	p.I934S	MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.I627S|MCTP1_ENST00000312216.8_Missense_Mutation_p.I713S|MCTP1_ENST00000505078.1_Missense_Mutation_p.I450S|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	934					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTCAGCGGAATGCAGTACAG	0.458																																						.											0													109	92	98					5																	94046552		2203	4300	6503	SO:0001583	missense	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2801T>G	5.37:g.94046552A>C	ENSP00000424126:p.Ile934Ser		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321033	0.81580	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.79247	-1.25;-1.17;-0.22;-1.14;-0.99	5.79	5.79	0.91817	Phosphoribosyltransferase C-terminal (1);	0.107337	0.64402	D	0.000007	D	0.87067	0.6085	M	0.79123	2.44	0.80722	D	1	D;D;D	0.67145	0.991;0.982;0.996	P;P;P	0.62298	0.898;0.802;0.9	D	0.88754	0.3252	10	0.87932	D	0	-8.2988	16.1376	0.81497	1.0:0.0:0.0:0.0	.	934;627;713	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	S	934;627;450;713;654	ENSP00000424126:I934S;ENSP00000391639:I627S;ENSP00000426417:I450S;ENSP00000308957:I713S;ENSP00000423410:I654S	ENSP00000308957:I713S	I	-	2	0	MCTP1	94072308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.212000	0.71576	0.533000	0.62120	ATT		0.458	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		C	94046552	A	C	94046552	3	2	42	1	0	0	0	0	1	0	0	0	9400	101	4	5	210	5	MCTP1	5	94046552	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	22553354	94046552	86868708	42	3091											
SEMA6A	57556	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	115840607	115840607	+	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	agccccagcaaagtgtagcaGtgtgaaatatagcagcaagg	15	6	12	8	0	0	1	0	1	0	0	0	1	0	1	2	1	5	5	2	1	6	3	rs36105994	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:115840607G>C	ENST00000343348.6	-	2	821	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.L12V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.L12V|SEMA6A_ENST00000503962.1_5'Flank	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	12					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)		AAGTGTAGCAGTGTGAAATAT	0.443																																						.											0													79	84	83					5																	115840607		1872	4106	5978	SO:0001583	missense	57556			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.34C>G	5.37:g.115840607G>C	ENSP00000345512:p.Leu12Val		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757680	0.31137	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T	0.46819	2.21;2.21;2.21;0.86	5.36	5.36	0.76844	.	0.079008	0.52532	D	0.000065	T	0.39572	0.1083	L	0.36672	1.1	0.80722	D	1	B;B	0.21688	0.016;0.059	B;B	0.23574	0.015;0.047	T	0.17653	-1.0362	10	0.35671	T	0.21	.	13.6262	0.62165	0.0:0.0:0.8449:0.1551	.	12;12	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	12	ENSP00000345512:L12V;ENSP00000257414:L12V;ENSP00000424388:L12V;ENSP00000421935:L12V	ENSP00000257414:L12V	L	-	1	2	SEMA6A	115868506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.512000	0.84698	0.563000	0.77884	CTG		0.443	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		C	115840607	G	C	115840607	3	2	42	1	0	0	0	0	1	0	0	0	14039	1020	36	5	3130	5	SEMA6A	5	115840607	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	21794055	115840607	65074653	43	3092											
CPLX2	10814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	175306003	175306003	+	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	aggagcggcaggaggcgctgCggcagcaggaggaggagcgt	9	2	22	8	4	0	0	0	0	0	0	0	5	0	5	0	8	4	4	0	8	0	0			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:175306003C>T	ENST00000359546.4	+	4	767	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	CPLX2_ENST00000512824.1_Missense_Mutation_p.R42W|CPLX2_ENST00000515094.1_Missense_Mutation_p.R42W|CPLX2_ENST00000393745.3_Missense_Mutation_p.R42W	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	42	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)			ggaggcgctgcggcagcagga	0.672																																						.											0													16	15	15					5																	175306003		2199	4293	6492	SO:0001583	missense	10814			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.124C>T	5.37:g.175306003C>T	ENSP00000352544:p.Arg42Trp		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.934879	0.73442	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000512824;ENST00000393746;ENST00000514150;ENST00000502265;ENST00000515094	.	.	.	4.32	1.29	0.21616	.	0.000000	0.85682	U	0.000000	T	0.78635	0.4314	M	0.86651	2.83	0.58432	D	0.999994	D	0.76494	0.999	D	0.79784	0.993	T	0.78981	-0.1989	9	0.87932	D	0	-19.8811	10.9358	0.47245	0.501:0.4989:0.0:0.0	.	42	Q6PUV4	CPLX2_HUMAN	W	42	.	ENSP00000352544:R42W	R	+	1	2	CPLX2	175238609	0.908000	0.30866	0.520000	0.27837	0.950000	0.60333	0.553000	0.23391	0.048000	0.15891	0.457000	0.33378	CGG		0.672	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			T	175306003	C	T	175306003	3	4	42	1	0	0	0	0	1	0	0	0	3805	759	27	1	130	1	CPLX2	5	175306003	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	59465396	175306003	5609257	44	3093											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158611	26158611	+	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	ccttcgtcaacgacatcttcGagcgcatcgcaggcgaggct	8	8	11	14	6	2	0	1	0	1	0	5	3	2	0	1	2	2	3	1	2	1	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:26158611G>C	ENST00000289316.2	+	1	238	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E72Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	72					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CGACATCTTCGAGCGCATCGC	0.587																																						.											0													158	151	153					6																	26158611		2203	4300	6503	SO:0001583	missense	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.214G>C	6.37:g.26158611G>C	ENSP00000289316:p.Glu72Gln			Missense_Mutation	SNP	ENST00000289316.2	37	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.979084	0.74360	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.28454	1.61;1.61	5.19	4.3	0.51218	Histone-fold (2);Histone core (1);	0.000000	0.42053	D	0.000772	T	0.36580	0.0972	H	0.96576	3.845	0.43512	D	0.995777	B	0.15719	0.014	B	0.17979	0.02	T	0.53078	-0.8489	10	0.59425	D	0.04	.	12.7759	0.57448	0.0815:0.0:0.9185:0.0	.	72	P58876	H2B1D_HUMAN	Q	72	ENSP00000367008:E72Q;ENSP00000289316:E72Q	ENSP00000289316:E72Q	E	+	1	0	HIST1H2BD	26266590	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.909000	0.63314	1.494000	0.48533	0.650000	0.86243	GAG		0.587	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		C	26158611	G	C	26158611	3	2	42	1	0	0	0	0	1	0	0	0	7143	1059	37	5	216	5	HIST1H2BD	6	26158611	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10		26158611	144956456	45	3094											
MUC21	394263	mdanderson.org	37	chr6	30954921	30954921	+	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	aactctgactccagcacaacCtccagtggggccagcacagc	11	5	9	16	0	1	1	0	1	1	0	3	1	3	1	4	2	5	2	4	2	2	0	rs548248760	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:30954921C>G	ENST00000376296.3	+	2	1210	c.969C>G	c.(967-969)acC>acG	p.T323T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	323	28 X 15 AA approximate tandem repeats.|Ser-rich.		T -> P (in dbSNP:rs41288679). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14574404}.		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						CCAGCACAACCTCCAGTGGGG	0.627													c|||	32	0.00638978	0.0083	0.0144	5008	,	,		22635	0.001		0.005	False		,,,				2504	0.0051					.											0																																										SO:0001819	synonymous_variant	394263			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.969C>G	6.37:g.30954921C>G			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		G	30954921	C	G	30954921	2	3	42	1	0	0	0	0	0	0	0	1	9977	668	24	5		5	MUC21	6	30954921	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	4796310	30954921	140160146	46	3095											
TTBK1	84630	mdanderson.org	37	chr6	43251912	43251912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagcggccttgcccaggaAgagcgggagggcagccgcca	8	2	18	13	3	0	1	0	0	0	1	0	3	0	3	4	5	4	2	4	5	1	1	rs3800297	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:43251912A>G	ENST00000259750.4	+	14	3517	c.3434A>G	c.(3433-3435)aAg>aGg	p.K1145R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1145			K -> R (in dbSNP:rs3800297). {ECO:0000269|PubMed:17344846}.		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)			TTGCCCAGGAAGAGCGGGAGG	0.701													A|||	1774	0.354233	0.5628	0.2176	5008	,	,		13619	0.3849		0.2247	False		,,,				2504	0.271					.											0								A	ARG/LYS	1190,1916		216,758,579	3	4	4		3434	4.1	0.2	6	dbSNP_107	4	1160,5396		106,948,2224	no	missense	TTBK1	NM_032538.1	26	322,1706,2803	GG,GA,AA		17.6937,38.3129,24.3221	possibly-damaging	1145/1322	43251912	2350,7312	1553	3278	4831	SO:0001583	missense	84630			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.3434A>G	6.37:g.43251912A>G	ENSP00000259750:p.Lys1145Arg		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	736	0.336996336996337	277	0.5630081300813008	84	0.23204419889502761	208	0.36363636363636365	167	0.22031662269129287	A	9.748	1.166668	0.21621	0.383129	0.176937	ENSG00000146216	ENST00000259750	T	0.53423	0.62	5.29	4.08	0.47627	.	0.172570	0.36778	N	0.002403	T	0.25306	0.0615	L	0.50333	1.59	0.09310	P	0.9999999999998821	B	0.14438	0.01	B	0.12156	0.007	T	0.11867	-1.0570	9	0.66056	D	0.02	.	11.146	0.48430	0.845:0.155:0.0:0.0	rs3800297;rs57009954	1145	Q5TCY1	TTBK1_HUMAN	R	1145	ENSP00000259750:K1145R	ENSP00000259750:K1145R	K	+	2	0	TTBK1	43359890	0.052000	0.20516	0.223000	0.23860	0.069000	0.16628	0.476000	0.22180	0.807000	0.34208	0.454000	0.30748	AAG		0.701	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			G	43251912	A	G	43251912	3	3	42	1	0	0	0	0	1	0	0	0	16673	72	3	2	3484	2	TTBK1	6	43251912	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	12296991	43251912	127863155	47	3096											
RFX6	222546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr6	117248566	117248566	+	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	ccatataactcccggccaccGtctagctatggcccatccct	8	9	6	18	2	1	0	0	0	1	0	3	0	3	0	6	2	2	1	6	2	4	4	rs374248308		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:117248566G>T	ENST00000332958.2	+	17	2278	c.2262G>T	c.(2260-2262)ccG>ccT	p.P754P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	754					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCGGCCACCGTCTAGCTATG	0.512																																						.											0													56	54	55					6																	117248566		2203	4300	6503	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2262G>T	6.37:g.117248566G>T			Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																				0.512	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117248566	G	T	117248566	2	4	42	1	0	0	0	0	0	0	0	1	13267	1132	40	5		5	RFX6	6	117248566	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10	73996654	117248566	53866501	48	3097											
C7orf57	136288	ucsc.edu	37	chr7	48080990	48080990	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggatgccccaccagcgTcccagatcccaggtctcagc	7	6	10	18	2	1	1	1	0	1	1	4	2	3	2	6	2	3	0	6	2	0	0			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:48080990T>C	ENST00000348904.3	+	3	327	c.115T>C	c.(115-117)Tcc>Ccc	p.S39P	C7orf57_ENST00000539619.1_Missense_Mutation_p.S39P|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.S84P|C7orf57_ENST00000420324.1_Missense_Mutation_p.S84P	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	39										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCACCAGCGTCCCAGATCCC	0.537																																						.											0													53	57	55					7																	48080990		1924	4144	6068	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.115T>C	7.37:g.48080990T>C	ENSP00000335500:p.Ser39Pro		C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292391	0.59976	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.84326	2.69	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	T	0.72544	-0.4261	10	0.87932	D	0	-19.8225	13.8893	0.63729	0.0:0.0:0.0:1.0	.	39	Q8NEG2	CG057_HUMAN	P	84;84;39;39	ENSP00000394648:S84P;ENSP00000410944:S84P;ENSP00000335500:S39P;ENSP00000442474:S39P	ENSP00000335500:S39P	S	+	1	0	C7orf57	48047515	0.999000	0.42202	0.905000	0.35620	0.156000	0.22039	4.996000	0.63914	2.156000	0.67533	0.460000	0.39030	TCC		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		C	48080990	T	C	48080990	3	2	42	1	0	0	0	0	1	0	0	0	2404	1667	58	2	121	2	C7orf57	7	48080990	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10		48080990	111057673	49	3098											
SRCRB4D	136853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	76021323	76021323	+	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	cacccgcgtggtctcagaacCatcctgctggacttgcagtc	7	9	10	15	2	1	1	1	0	1	1	4	2	2	2	3	2	3	2	3	2	1	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:76021323C>G	ENST00000275560.3	-	10	1716	c.1369G>C	c.(1369-1371)Ggt>Cgt	p.G457R	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCTCAGAACCATCCTGCTGG	0.592																																						.											0													50	37	41					7																	76021323		2202	4298	6500	SO:0001583	missense	136853																														ENST00000275560.3:c.1369G>C	7.37:g.76021323C>G	ENSP00000275560:p.Gly457Arg			Missense_Mutation	SNP	ENST00000275560.3	37	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096466	0.36952	.	.	ENSG00000146700	ENST00000275560	T	0.01240	5.12	4.81	4.81	0.61882	.	0.638678	0.16561	N	0.209050	T	0.01870	0.0059	L	0.27053	0.805	0.33951	D	0.644428	D	0.62365	0.991	P	0.47470	0.548	T	0.65582	-0.6133	10	0.17369	T	0.5	.	13.5728	0.61856	0.0:1.0:0.0:0.0	.	457	Q8WTU2	SRB4D_HUMAN	R	457	ENSP00000275560:G457R	ENSP00000275560:G457R	G	-	1	0	SRCRB4D	75859259	0.026000	0.19158	0.815000	0.32552	0.889000	0.51656	0.462000	0.21956	2.679000	0.91253	0.491000	0.48974	GGT		0.592	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			G	76021323	C	G	76021323	3	3	42	1	0	0	0	0	1	0	0	0	15136	594	21	5	366	5	SRCRB4D	7	76021323	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	27940333	76021323	83117340	50	3099											
SEMA3A	10371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	83590705	83590705	+	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	gctcagacactcctgggtgcCctctcaaattcgtgggtcct	6	11	10	14	1	2	1	2	0	1	1	6	1	4	1	3	2	1	1	3	2	1	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:83590705C>T	ENST00000265362.4	-	17	2612	c.2298G>A	c.(2296-2298)agG>agA	p.R766R	SEMA3A_ENST00000436949.1_Silent_p.R766R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	766	Arg/Lys-rich (basic).				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCCTGGGTGCCCTCTCAAATT	0.433																																						.											0													153	155	154					7																	83590705		2203	4300	6503	SO:0001819	synonymous_variant	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2298G>A	7.37:g.83590705C>T				Silent	SNP	ENST00000265362.4	37	CCDS5599.1																																																																																				0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		T	83590705	C	T	83590705	2	4	42	1	0	0	0	0	0	0	0	1	14024	622	22	3		3	SEMA3A	7	83590705	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	7569382	83590705	75547958	51	3100											
ANKRD7	56311	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	117876137	117876137	+	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	ttgccgttattaacaataatCcaaaaatggtaaaatttctt	16	15	4	6	1	1	0	0	0	1	0	2	0	2	0	2	1	2	2	2	1	8	7			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:117876137C>T	ENST00000265224.4	+	4	666	c.511C>T	c.(511-513)Cca>Tca	p.P171S	ANKRD7_ENST00000417525.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000357099.4_Missense_Mutation_p.P191S|ANKRD7_ENST00000433239.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	171					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TAACAATAATCCAAAAATGGT	0.279																																						.											0													77	79	79					7																	117876137		1797	4071	5868	SO:0001583	missense	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"Ankyrin repeat domain containing"	18588	protein-coding gene	gene with protein product	"testis-specific ankyrin motif containing protein"	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.511C>T	7.37:g.117876137C>T	ENSP00000265224:p.Pro171Ser		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	1.580	-0.531960	0.04112	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.52526	1.59;1.59;0.66;0.66	5.3	2.18	0.27775	Ankyrin repeat-containing domain (3);	0.727380	0.11614	N	0.546499	T	0.34571	0.0902	N	0.13299	0.325	0.09310	N	1	B	0.26975	0.165	B	0.34452	0.183	T	0.36915	-0.9728	10	0.42905	T	0.14	-0.2357	11.8021	0.52133	0.0777:0.3361:0.5862:0.0	.	171	Q92527	ANKR7_HUMAN	S	191;171;118;118	ENSP00000349612:P191S;ENSP00000265224:P171S;ENSP00000395595:P118S;ENSP00000388473:P118S	ENSP00000265224:P171S	P	+	1	0	ANKRD7	117663373	0.881000	0.30235	0.059000	0.19551	0.049000	0.14656	1.244000	0.32778	0.725000	0.32318	-0.479000	0.04858	CCA		0.279	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		T	117876137	C	T	117876137	3	4	42	1	0	0	0	0	1	0	0	0	686	855	30	3	525	3	ANKRD7	7	117876137	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	34285432	117876137	41262526	52	3101											
NOM1	64434	broad.mit.edu	37	chr7	156752565	156752567	+	In_Frame_Del	DEL	GGC	GGC	-																															gtcggtgcccactttctggaGgcagtggtgaggaagttcga																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752565_156752567delGGC	ENST00000275820.3	+	4	1344_1346	c.1329_1331delGGC	c.(1327-1332)gaggca>gaa	p.A444del	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	444	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					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)		ACTTTCTGGAGGCAGTGGTGAGG	0.448																																						.											0																																										SO:0001651	inframe_deletion	64434			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.1329_1331delGGC	7.37:g.156752565_156752567delGGC	ENSP00000275820:p.Ala444del		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.448	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752567	GGC	-	156752565	7	5	42	1	0	1	0	1	0	0	0	0	10530	991	35	0	1343	0	NOM1	7	156752565	In_Frame_Del	DEL	GGC	TCGA-KN-8427-01A-11D-2310-10	38876428	156752565	2386098	53	3102	90	4									
NOM1	64434	bcgsc.ca	37	chr7	156752566	156752568	+	In_Frame_Del	DEL	GGC	GGC	-																															tcggtgcccactttctggagGcagtggtgaggaagttcgat																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752566_156752568delGGC	ENST00000275820.3	+	4	1345_1347	c.1330_1332delGGC	c.(1330-1332)ggcdel	p.G444del	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	444	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					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)		CTTTCTGGAGGCAGTGGTGAGGA	0.453																																						.											0																																										SO:0001651	inframe_deletion	64434			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.1330_1332delGGC	7.37:g.156752566_156752568delGGC	ENSP00000275820:p.Gly444del		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.453	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752568	GGC	-	156752566	7	5	42	1	0	1	0	1	0	0	0	0	10530	1203	42	0	1344	0	NOM1	7	156752566	In_Frame_Del	DEL	GGC	TCGA-KN-8427-01A-11D-2310-10	1	156752566	2386097	54	3103	90	4									
NOM1	64434	broad.mit.edu	37	chr7	156752569	156752570	+	Frame_Shift_Del	DEL	GT	GT	-																															gtgcccactttctggaggcaGtggtgaggaagttcgatgcc																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752569_156752570delGT	ENST00000275820.3	+	4	1348_1349	c.1333_1334delGT	c.(1333-1335)gtgfs	p.V446fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	446	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					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)		TCTGGAGGCAGTGGTGAGGAAG	0.45																																						.											0																																										SO:0001589	frameshift_variant	64434			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.1333_1334delGT	7.37:g.156752569_156752570delGT	ENSP00000275820:p.Val446fs		Q96I08	Frame_Shift_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.45	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752570	GT	-	156752569	7	5	42	1	0	1	0	1	0	0	0	0	10530	1029	36	0	1347	0	NOM1	7	156752569	Frame_Shift_Del	DEL	GT	TCGA-KN-8427-01A-11D-2310-10	3	156752569	2386094	55	3104	90	4									
NOM1	64434	bcgsc.ca	37	chr7	156752570	156752571	+	Frame_Shift_Del	DEL	GT	GT	-																															tgcccactttctggaggcagTggtgaggaagttcgatgcca																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752570_156752571delGT	ENST00000275820.3	+	4	1349_1350	c.1334_1335delGT	c.(1333-1335)ggtfs	p.G445fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	445	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					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)		CTGGAGGCAGTGGTGAGGAAGT	0.455																																						.											0																																										SO:0001589	frameshift_variant	64434			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.1334_1335delGT	7.37:g.156752570_156752571delGT	ENSP00000275820:p.Gly445fs		Q96I08	Frame_Shift_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.455	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752571	GT	-	156752570	7	5	42	1	0	1	0	1	0	0	0	0	10530	1696	59	0	1348	0	NOM1	7	156752570	Frame_Shift_Del	DEL	GT	TCGA-KN-8427-01A-11D-2310-10	1	156752570	2386093	56	3105	90	4									
SCARA5	286133	mdanderson.org	37	chr8	27779545	27779545	+	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	gcctgcgcctgcagcccccaCagcgcgccctccagccgctg	4	4	11	22	4	0	0	0	0	0	0	1	0	1	0	7	0	5	2	7	0	0	0	rs10103504	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:27779545C>T	ENST00000354914.3	-	4	944	c.459G>A	c.(457-459)ctG>ctA	p.L153L	SCARA5_ENST00000524352.1_Silent_p.L153L|SCARA5_ENST00000518030.1_Silent_p.L110L|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.L110L	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	153					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)		GCAGCCCCCACAGCGCGCCCT	0.721													C|||	2857	0.570487	0.3631	0.696	5008	,	,		12321	0.5843		0.6024	False		,,,				2504	0.7147					.											0								C		1840,2254		503,834,710	4	5	5		459	2.7	1	8	dbSNP_119	5	5071,2913		1733,1605,654	no	coding-synonymous	SCARA5	NM_173833.5		2236,2439,1364	TT,TC,CC		36.4855,44.9438,42.7803		153/496	27779545	6911,5167	2047	3992	6039	SO:0001819	synonymous_variant	286133			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.459G>A	8.37:g.27779545C>T			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																				0.721	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		T	27779545	C	T	27779545	2	4	42	1	0	0	0	0	0	0	0	1	13880	465	17	4		4	SCARA5	8	27779545	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10		27779545	118584477	57	3106											
PABPC1	26986	broad.mit.edu	37	chr8	101724623	101724624	+	Frame_Shift_Ins	INS	-	-	A																															ttgtaccaaatggagaaaacINStctttccggagacgttcatc																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:101724623_101724624insA	ENST00000318607.5	-	7	2066_2067	c.938_939insT	c.(937-939)gagfs	p.E313fs	PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E281fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E268fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	313	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)			ATGGAGAAAACTCTTTCCGGAG	0.297																																						.											0																																										SO:0001589	frameshift_variant	26986			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.938_939insT	8.37:g.101724623_101724624insA	ENSP00000313007:p.Glu313fs		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	CCDS6289.1																																																																																				0.297	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724624	-	A	101724623	7	5	42	1	0	1	1	0	0	0	0	0	11363	564	20	0	1003	0	PABPC1	8	101724623	Frame_Shift_Ins	INS	-	TCGA-KN-8427-01A-11D-2310-10	73945078	101724623	44639399	58	3107	91	2									
PABPC1	26986	broad.mit.edu	37	chr8	101724626	101724627	+	Frame_Shift_Del	DEL	TT	TT	-																															gtaccaaatggagaaaactcTttccggagacgttcatcatc																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:101724626_101724627delTT	ENST00000318607.5	-	7	2063_2064	c.935_936delAA	c.(934-936)aaafs	p.K312fs	PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K280fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K267fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	312	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)			GAGAAAACTCTTTCCGGAGACG	0.307																																						.											0																																										SO:0001589	frameshift_variant	26986			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.935_936delAA	8.37:g.101724626_101724627delTT	ENSP00000313007:p.Lys312fs		Q15097|Q93004	Frame_Shift_Del	DEL	ENST00000318607.5	37	CCDS6289.1																																																																																				0.307	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		-	101724627	TT	-	101724626	7	5	42	1	0	1	0	1	0	0	0	0	11363	1606	56	0	1006	0	PABPC1	8	101724626	Frame_Shift_Del	DEL	TT	TCGA-KN-8427-01A-11D-2310-10	3	101724626	44639396	59	3108	91	2									
DCAF13	81034	hgsc.bcm.edu	37	chr8	104427572	104427572	+	5'Flank	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	cgctccgcgagtcacgtgacTggaagtagtctgggaaaagc	10	7	14	10	4	2	1	1	1	1	0	3	4	3	3	1	2	1	2	1	2	4	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:104427572T>A	ENST00000297578.4	-	0	0				DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|DCAF13_ENST00000519682.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Silent_p.T118T	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GTCACGTGACTGGAAGTAGTC	0.637																																						.											0													38	46	43					8																	104427572		2199	4297	6496	SO:0001631	upstream_gene_variant	25879			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427572T>A	Exception_encountered		Q96JZ6|Q96SU7	Silent	SNP	ENST00000297578.4	37	CCDS6300.1																																																																																				0.637	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		A	104427572	T	A	104427572	1	1	42	0	1	0	0	0	0	0	0	0	4266	1567	55	5		5	DCAF13	8	104427572	5'Flank	SNP	T	TCGA-KN-8427-01A-11D-2310-10	2702946	104427572	41936450	60	3109											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	110530424	110530424	+	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	cttcctaacctggattccacTgtccttggtgaaaactactt	9	14	6	12	0	0	1	0	1	0	0	3	2	3	2	4	2	3	0	4	2	4	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:110530424T>C	ENST00000378402.5	+	73	11822	c.11718T>C	c.(11716-11718)acT>acC	p.T3906T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3906					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)			TGGATTCCACTGTCCTTGGTG	0.363										HNSCC(38;0.096)																												.											0													84	76	79					8																	110530424		1866	4089	5955	SO:0001819	synonymous_variant	93035			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.11718T>C	8.37:g.110530424T>C			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110530424	T	C	110530424	2	2	42	1	0	0	0	0	0	0	0	1	11972	1567	55	2		2	PKHD1L1	8	110530424	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10	6102852	110530424	35833598	61	3110											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr8	113988244	113988244	+	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	cgctgttcctcggaaagtctAtggatggtgacagctgtaac	9	11	12	9	2	1	1	0	1	1	0	3	3	2	3	1	3	2	4	1	3	3	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:113988244A>G	ENST00000297405.5	-	7	1408	c.1164T>C	c.(1162-1164)caT>caC	p.H388H	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.H348H|CSMD3_ENST00000352409.3_Silent_p.H388H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	388						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						CGGAAAGTCTATGGATGGTGA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												.											0													198	175	183					8																	113988244		2203	4300	6503	SO:0001819	synonymous_variant	114788			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.1164T>C	8.37:g.113988244A>G			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113988244	A	G	113988244	2	3	42	1	0	0	0	0	0	0	0	1	3946	446	16	4		4	CSMD3	8	113988244	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	3457820	113988244	32375778	62	3111											
CYP11B1	1584	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	143958438	143958438	+	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	atcttcccacgtggcccacaCcttctatggtgtagtggaag	8	11	10	12	1	2	0	0	0	2	0	3	1	3	1	3	3	0	1	3	3	3	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:143958438C>T	ENST00000292427.4	-	3	628		c.e3+1		CYP11B1_ENST00000517471.1_Splice_Site|CYP11B1_ENST00000377675.3_Splice_Site	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTGGCCCACACCTTCTATGGT	0.652									Familial Hyperaldosteronism type I																													.											0													47	42	43					8																	143958438		2203	4300	6503	SO:0001630	splice_region_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.595+1G>A	8.37:g.143958438C>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Splice_Site	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	8.172	0.791801	0.16258	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	.	.	.	3.88	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9951	0.30263	0.0:0.8784:0.0:0.1216	.	.	.	.	.	-1	.	.	.	-	.	.	CYP11B1	143955440	1.000000	0.71417	0.709000	0.30452	0.058000	0.15608	5.368000	0.66133	0.917000	0.36895	-0.142000	0.14014	.		0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		Intron	T	143958438	C	T	143958438	5	4	42	1	0	0	0	0	0	0	1	0	4145	521	18	3	943	3	CYP11B1	8	143958438	Splice_Site	SNP	C	TCGA-KN-8427-01A-11D-2310-10	29970194	143958438	2405584	63	3112											
PLEC	5339	mdanderson.org	37	chr8	144996029	144996029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcagcctctgagctgAcaccttccgccgcaggccat	6	8	9	18	2	1	2	0	2	1	0	3	2	3	2	6	1	3	3	6	1	0	1	rs7833924	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:144996029A>G	ENST00000322810.4	-	32	8540	c.8371T>C	c.(8371-8373)Tca>Cca	p.S2791P	PLEC_ENST00000345136.3_Missense_Mutation_p.S2654P|PLEC_ENST00000354958.2_Missense_Mutation_p.S2632P|PLEC_ENST00000398774.2_Missense_Mutation_p.S2622P|PLEC_ENST00000436759.2_Missense_Mutation_p.S2681P|PLEC_ENST00000356346.3_Missense_Mutation_p.S2640P|PLEC_ENST00000527096.1_Missense_Mutation_p.S2677P|PLEC_ENST00000354589.3_Missense_Mutation_p.S2654P|PLEC_ENST00000357649.2_Missense_Mutation_p.S2658P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2791	Globular 2.		S -> P (in dbSNP:rs7833924).		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						CTCTGAGCTGACACCTTCCGC	0.687													G|||	2337	0.466653	0.8775	0.3674	5008	,	,		16760	0.1429		0.4354	False		,,,				2504	0.3476					.											0								G	PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER	3507,739		1479,549,95	13	16	15		8041,7918,7894,8371,7864,7960,7972,7960	1.3	0.6	8	dbSNP_116	15	3635,4801		854,1927,1437	yes	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	74,74,74,74,74,74,74,74	2333,2476,1532	GG,GA,AA		43.0891,17.4046,43.684	benign,benign,benign,benign,benign,benign,benign,benign	2681/4575,2640/4534,2632/4526,2791/4685,2622/4516,2654/4548,2658/4552,2654/4548	144996029	7142,5540	2123	4218	6341	SO:0001583	missense	5339			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.8371T>C	8.37:g.144996029A>G	ENSP00000323856:p.Ser2791Pro		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	978	0.4478021978021978	423	0.8597560975609756	137	0.3784530386740331	94	0.16433566433566432	324	0.42744063324538256	G	9.708	1.156295	0.21454	0.825954	0.430891	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.16	1.26	0.21427	.	0.000000	0.64402	N	0.000006	T	0.00012	0.0000	N	0.05441	-0.05	0.46678	P	8.430000000000382E-4	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	0.42766	-0.9432	9	0.02654	T	1	.	3.6953	0.08361	0.4852:0.1979:0.317:0.0	rs7833924	2681;2640;2632;2791;2622;2654;2658;2654	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	2654;2658;2654;2622;2791;2632;2640;2681;2677	ENSP00000344848:S2654P;ENSP00000350277:S2658P;ENSP00000346602:S2654P;ENSP00000381756:S2622P;ENSP00000323856:S2791P;ENSP00000347044:S2632P;ENSP00000348702:S2640P;ENSP00000388180:S2681P;ENSP00000434583:S2677P	ENSP00000323856:S2791P	S	-	1	0	PLEC	145068017	0.803000	0.28956	0.551000	0.28230	0.791000	0.44710	0.441000	0.21611	0.147000	0.19030	-0.380000	0.06706	TCA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144996029	A	G	144996029	3	3	42	1	0	0	0	0	1	0	0	0	12052	275	10	2	5687	2	PLEC	8	144996029	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	1037591	144996029	1367993	64	3113											
C9orf72	203228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	27556771	27556771	+	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	tacatgacttgccggaaaggCagcacaaagcttccagttga	13	8	10	10	1	0	2	0	2	0	0	1	3	1	3	2	2	4	4	2	2	3	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:27556771C>T	ENST00000380003.3	-	8	942	c.879G>A	c.(877-879)ctG>ctA	p.L293L	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	293					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCCGGAAAGGCAGCACAAAGC	0.363																																						.											0													127	120	122					9																	27556771		2203	4300	6503	SO:0001819	synonymous_variant	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.879G>A	9.37:g.27556771C>T			A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	CCDS6522.1																																																																																				0.363	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		T	27556771	C	T	27556771	2	4	42	1	0	0	0	0	0	0	0	1	2495	697	25	4		4	C9orf72	9	27556771	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10		27556771	113656660	65	3114											
C9orf23	138716	broad.mit.edu	37	chr9	34611014	34611014	+	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	tgaggctgggacccagctgtCctcagtctgaaggaaacgta	10	8	13	10	1	2	2	1	2	1	0	3	4	3	4	2	3	2	3	2	3	3	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:34611014C>T	ENST00000297613.4	-	2	560	c.280G>A	c.(280-282)Gac>Aac	p.D94N	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.D94N	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	94						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ACCCAGCTGTCCTCAGTCTGA	0.647																																						.											0													61	51	55					9																	34611014		2203	4300	6503	SO:0001583	missense	138716			BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 23"	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.280G>A	9.37:g.34611014C>T	ENSP00000297613:p.Asp94Asn		D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205854	0.95033	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.72	4.72	0.59763	.	0.105878	0.64402	D	0.000004	T	0.71921	0.3397	M	0.76938	2.355	0.52099	D	0.999945	D	0.55605	0.972	P	0.50136	0.632	T	0.78003	-0.2374	9	0.72032	D	0.01	-6.4208	16.8747	0.86048	0.0:1.0:0.0:0.0	.	94	Q8N5L8	CI023_HUMAN	N	94	.	ENSP00000297613:D94N	D	-	1	0	C9orf23	34601014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.004000	0.76317	2.448000	0.82819	0.643000	0.83706	GAC		0.647	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		T	34611014	C	T	34611014	3	4	42	1	0	0	0	0	1	0	0	0	2474	855	30	3	215	3	C9orf23	9	34611014	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	7054243	34611014	106602417	66	3115											
CNTNAP3	79937	mdanderson.org	37	chr9	39177438	39177438	+	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	acggaatgccagtgctggtcGtccagcaggctgcccagggt	7	7	15	12	2	0	0	0	0	0	0	2	1	1	1	3	4	4	3	3	4	1	0			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:39177438G>A	ENST00000297668.6	-	6	877	c.804C>T	c.(802-804)gaC>gaT	p.D268D	CNTNAP3_ENST00000323947.7_Silent_p.D268D|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Silent_p.D268D|CNTNAP3_ENST00000377659.1_Silent_p.D268D|CNTNAP3_ENST00000358144.2_Silent_p.D180D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	268	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGTGCTGGTCGTCCAGCAGGC	0.502																																						.											0													71	65	67					9																	39177438		2203	4300	6503	SO:0001819	synonymous_variant	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.804C>T	9.37:g.39177438G>A			B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	CCDS6616.1																																																																																				0.502	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		A	39177438	G	A	39177438	2	1	42	1	0	0	0	0	0	0	0	1	3648	1136	40	1		1	CNTNAP3	9	39177438	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10	4566424	39177438	102035993	67	3116											
ROR2	4920	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr9	94487339	94487339	+	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	ttcccaaaccggtcctctccCagctcctccatgaacctcac	8	9	4	20	1	2	1	1	1	1	0	7	1	6	1	7	1	3	1	7	1	2	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:94487339C>G	ENST00000375708.3	-	9	1635	c.1437G>C	c.(1435-1437)ctG>ctC	p.L479L	ROR2_ENST00000375715.1_Silent_p.L339L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						GGTCCTCTCCCAGCTCCTCCA	0.572																																						.											0													212	241	231					9																	94487339		2203	4300	6503	SO:0001819	synonymous_variant	4920			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.1437G>C	9.37:g.94487339C>G			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	CCDS6691.1																																																																																				0.572	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			G	94487339	C	G	94487339	2	3	42	1	0	0	0	0	0	0	0	1	13527	581	21	5		5	ROR2	9	94487339	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	55309901	94487339	46726092	68	3117											
GARNL3	84253	broad.mit.edu	37	chr9	130075815	130075815	+	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	atcaacgtgtccctcaatacCgtgcaattctttggagaaaa	13	11	7	10	2	3	1	2	0	1	1	4	2	4	1	2	1	3	1	2	1	6	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:130075815C>T	ENST00000373387.4	+	4	767	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	GARNL3_ENST00000314904.5_Missense_Mutation_p.R139C|GARNL3_ENST00000435213.2_Missense_Mutation_p.R117C	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	139					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CCCTCAATACCGTGCAATTCT	0.438																																						.											0													191	170	177					9																	130075815		2203	4300	6503	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.415C>T	9.37:g.130075815C>T	ENSP00000362485:p.Arg139Cys		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974827	0.74360	.	.	ENSG00000136895	ENST00000439286;ENST00000373399;ENST00000425970;ENST00000435213;ENST00000314904;ENST00000373387	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.76	4.82	0.62117	.	0.047395	0.85682	D	0.000000	D	0.96436	0.8837	M	0.77103	2.36	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.65874	0.939;0.912	D	0.95525	0.8598	9	.	.	.	.	12.6058	0.56523	0.2495:0.7504:0.0:0.0	.	139;117	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	C	162;162;117;117;139;139	ENSP00000400579:R162C;ENSP00000411329:R117C;ENSP00000396205:R117C;ENSP00000313970:R139C;ENSP00000362485:R139C	.	R	+	1	0	GARNL3	129115636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.574000	0.36482	2.871000	0.98454	0.655000	0.94253	CGT		0.438	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		T	130075815	C	T	130075815	3	4	42	1	0	0	0	0	1	0	0	0	6241	652	23	1	429	1	GARNL3	9	130075815	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	35588476	130075815	11137616	69	3118											
PPAPDC3	84814	mdanderson.org	37	chr9	134183379	134183379	+	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	gcggcgcggcccgtacgagaCgagccccagcctcctggact	6	4	14	17	6	0	1	0	0	0	1	1	4	1	2	5	3	3	1	5	3	1	1	rs2966332	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:134183379C>T	ENST00000372264.3	+	2	825	c.521C>T	c.(520-522)aCg>aTg	p.T174M		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	174			T -> M (in dbSNP:rs2966332). {ECO:0000269|PubMed:15489334}.		negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCGTACGAGACGAGCCCCAGC	0.677													C|||	3122	0.623403	0.4047	0.6499	5008	,	,		15990	0.7252		0.7416	False		,,,				2504	0.6738					.											0								C	MET/THR	2051,2355	561.2+/-380.7	478,1095,630	53	47	49		521	3.5	0.9	9	dbSNP_101	49	6480,2120	710.7+/-405.8	2455,1570,275	yes	missense	PPAPDC3	NM_032728.3	81	2933,2665,905	TT,TC,CC		24.6512,46.5502,34.4072	benign	174/272	134183379	8531,4475	2203	4300	6503	SO:0001583	missense	84814			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.521C>T	9.37:g.134183379C>T	ENSP00000361338:p.Thr174Met		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	CCDS6942.1	1420	0.6501831501831502	208	0.42276422764227645	243	0.6712707182320442	413	0.722027972027972	556	0.7335092348284961	C	9.934	1.215704	0.22373	0.465502	0.753488	ENSG00000160539	ENST00000372264	T	0.75050	-0.9	4.68	3.5	0.40072	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.293233	0.40144	N	0.001179	T	0.00012	0.0000	N	0.02854	-0.475	0.09310	P	1.0	B	0.06786	0.001	B	0.06405	0.002	T	0.45934	-0.9227	9	0.30854	T	0.27	-33.1479	3.8455	0.08933	0.0:0.6576:0.0:0.3424	rs2966332;rs17845091;rs17857876;rs58914852;rs2966332	174	Q8NBV4	PPAC3_HUMAN	M	174	ENSP00000361338:T174M	ENSP00000361338:T174M	T	+	2	0	PPAPDC3	133173200	1.000000	0.71417	0.918000	0.36340	0.293000	0.27360	3.020000	0.49643	2.296000	0.77279	0.505000	0.49811	ACG		0.677	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		T	134183379	C	T	134183379	3	4	42	1	0	0	0	0	1	0	0	0	12296	536	19	1	527	1	PPAPDC3	9	134183379	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	4107564	134183379	7030052	70	3119											
DCLRE1C	64421	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	14951197	14951197	+	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	tgcagcatcctggggtttgtCtcagtttttcaggctgcttt	4	17	11	9	0	2	0	2	0	1	0	4	0	3	0	1	3	3	6	1	3	0	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:14951197C>G	ENST00000378278.2	-	14	1326	c.1289G>C	c.(1288-1290)aGa>aCa	p.R430T	DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R310T|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R315T|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R315T|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.R310T|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R83T|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R310T|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R310T|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R315T|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R310T			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	430					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						TGGGGTTTGTCTCAGTTTTTC	0.428								Non-homologous end-joining																														.											0													88	90	90					10																	14951197		2203	4300	6503	SO:0001583	missense	64421			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.1289G>C	10.37:g.14951197C>G	ENSP00000367527:p.Arg430Thr		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	C	3.260	-0.151372	0.06585	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T	0.75589	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.95;-0.41	5.73	-0.364	0.12553	.	0.988959	0.08284	N	0.969455	T	0.60327	0.2260	L	0.33485	1.01	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.12156	0.007;0.002	T	0.50775	-0.8788	10	0.56958	D	0.05	.	4.8617	0.13587	0.2243:0.4756:0.2203:0.0798	.	315;430	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	T	310;315;315;315;310;310;310;430;310;83	ENSP00000400529:R310T;ENSP00000367492:R315T;ENSP00000350349:R315T;ENSP00000367496:R315T;ENSP00000380030:R310T;ENSP00000367503:R310T;ENSP00000367502:R310T;ENSP00000367527:R430T;ENSP00000367506:R310T	ENSP00000350349:R315T	R	-	2	0	DCLRE1C	14991203	0.000000	0.05858	0.004000	0.12327	0.092000	0.18411	-0.318000	0.08050	0.031000	0.15407	0.650000	0.86243	AGA		0.428	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		G	14951197	C	G	14951197	3	3	42	1	0	0	0	0	1	0	0	0	4296	913	32	5	793	5	DCLRE1C	10	14951197	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		14951197	120583550	71	3120											
C10orf114	399726	broad.mit.edu	37	chr10	21784654	21784655	+	Frame_Shift_Ins	INS	-	-	C																															ggccgttccggacggtcaggINScccgccgctacagggagaag																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:21784654_21784655insC	ENST00000377113.5	-	2	732_733	c.285_286insG	c.(283-288)gggcctfs	p.P96fs	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	96																	GGACGGTCAGGCCCGCCGCTAC	0.668											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001589	frameshift_variant	399726			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.286dupG	10.37:g.21784657_21784657dupC	ENSP00000366317:p.Pro96fs	751	A1L4M3	Frame_Shift_Ins	INS	ENST00000377113.5	37	CCDS31163.1																																																																																				0.668	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047130.2	NM_001010911		C	21784655	-	C	21784654	7	5	42	1	0	1	1	0	0	0	0	0	1585	1203	42	0	128	0	C10orf114	10	21784654	Frame_Shift_Ins	INS	-	TCGA-KN-8427-01A-11D-2310-10	6833457	21784654	113750093	72	3121											
KIAA1462	57608	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	30318485	30318485	+	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	cccatctccatcagacatctGcctccctaatttccttggct	7	13	4	17	0	3	1	1	0	2	1	6	1	5	1	5	1	1	1	5	1	1	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:30318485G>A	ENST00000375377.1	-	3	693	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	198					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGACATCTGCCTCCCTAAT	0.483																																						.											0													192	191	191					10																	30318485		2072	4201	6273	SO:0001587	stop_gained	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.592C>T	10.37:g.30318485G>A	ENSP00000364526:p.Gln198*		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	37	6.049493	0.97236	.	.	ENSG00000165757	ENST00000375377	.	.	.	5.17	5.17	0.71159	.	0.474213	0.22270	N	0.062271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.556	13.6056	0.62046	0.0:0.0:0.8448:0.1552	.	.	.	.	X	198	.	ENSP00000364526:Q198X	Q	-	1	0	KIAA1462	30358491	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.033000	0.76504	2.401000	0.81631	0.655000	0.94253	CAG		0.483	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30318485	G	A	30318485	4	1	42	1	0	0	0	0	0	1	0	0	8234	1328	46	4	3495	4	KIAA1462	10	30318485	Nonsense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	8533831	30318485	105216262	73	3122											
RTKN2	219790	hgsc.bcm.edu;mdanderson.org	37	chr10	63957976	63957976	+	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	aatggaagtttatcagaaggAggaaggggagcttgtctctt	12	11	14	4	0	2	1	1	0	1	1	3	5	2	5	0	5	1	2	0	5	5	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:63957976A>C	ENST00000373789.3	-	12	1617	c.1521T>G	c.(1519-1521)ccT>ccG	p.P507P	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	507					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)					TATCAGAAGGAGGAAGGGGAG	0.398																																						.											0													222	221	221					10																	63957976		2203	4300	6503	SO:0001819	synonymous_variant	219790			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.1521T>G	10.37:g.63957976A>C			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																				0.398	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		C	63957976	A	C	63957976	2	2	42	1	0	0	0	0	0	0	0	1	13723	291	11	5		5	RTKN2	10	63957976	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	33639491	63957976	71576771	74	3123											
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	70702984	70702984	+	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	tttagggtgtttgctttgatGttcctacaactgagtcagaa	9	16	10	6	0	1	3	1	2	0	1	2	3	2	3	1	1	3	3	1	1	4	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:70702984G>C	ENST00000373585.3	+	14	2013	c.1906G>C	c.(1906-1908)Gtt>Ctt	p.V636L	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	636						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTGCTTTGATGTTCCTACAAC	0.289																																						.											0													159	151	154					10																	70702984		2202	4298	6500	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1906G>C	10.37:g.70702984G>C	ENSP00000362687:p.Val636Leu		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078399	0.36662	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20881	2.04	5.46	4.54	0.55810	GUCT (1);	0.111139	0.64402	D	0.000011	T	0.17831	0.0428	L	0.32530	0.975	0.41726	D	0.989531	B	0.18863	0.031	B	0.33960	0.173	T	0.07046	-1.0793	10	0.27785	T	0.31	-13.3868	8.7587	0.34661	0.1485:0.0:0.8515:0.0	.	636	Q9BQ39	DDX50_HUMAN	L	636	ENSP00000362687:V636L	ENSP00000362687:V636L	V	+	1	0	DDX50	70372990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.695000	0.37763	2.715000	0.92844	0.563000	0.77884	GTT		0.289	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		C	70702984	G	C	70702984	3	2	42	1	0	0	0	0	1	0	0	0	4368	1377	48	5	1960	5	DDX50	10	70702984	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	6745008	70702984	64831763	75	3124											
TYSND1	219743	mdanderson.org	37	chr10	71906150	71906150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacggcgccggccgcggTcaggacttcgctgccagctc	6	5	15	15	6	1	1	1	0	0	1	3	3	1	2	3	4	2	2	3	4	1	1	rs4746970	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:71906150T>C	ENST00000287078.6	-	1	192	c.193A>G	c.(193-195)Acc>Gcc	p.T65A	TYSND1_ENST00000335494.5_Missense_Mutation_p.T65A|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	65			T -> A (in dbSNP:rs4746970). {ECO:0000269|PubMed:15489334}.		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						CCGGCCGCGGTCAGGACTTCG	0.726													T|||	1930	0.385383	0.1679	0.513	5008	,	,		13022	0.5327		0.4115	False		,,,				2504	0.41					.											0								T	ALA/THR,ALA/THR	733,3169		101,531,1319	7	8	8		193,193	2.6	0	10	dbSNP_111	8	2989,4601		673,1643,1479	yes	missense,missense	TYSND1	NM_001040273.1,NM_173555.2	58,58	774,2174,2798	CC,CT,TT		39.3808,18.7852,32.3877	benign,benign	65/399,65/567	71906150	3722,7770	1951	3795	5746	SO:0001583	missense	219743			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.193A>G	10.37:g.71906150T>C	ENSP00000287078:p.Thr65Ala		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	CCDS31213.1	903	0.41346153846153844	77	0.1565040650406504	179	0.494475138121547	330	0.5769230769230769	317	0.4182058047493404	T	3.128	-0.179013	0.06380	0.187852	0.393808	ENSG00000156521	ENST00000287078;ENST00000335494	T;T	0.47177	0.85;0.85	4.98	2.59	0.31030	.	0.704604	0.13805	N	0.361502	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.42068	-0.9473	9	0.44086	T	0.13	-20.2145	2.3036	0.04168	0.2184:0.3024:0.0:0.4792	rs4746970;rs17854223	65;65	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	A	65	ENSP00000287078:T65A;ENSP00000335673:T65A	ENSP00000287078:T65A	T	-	1	0	TYSND1	71576156	0.001000	0.12720	0.030000	0.17652	0.297000	0.27493	0.483000	0.22292	0.905000	0.36596	0.418000	0.28097	ACC		0.726	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		C	71906150	T	C	71906150	3	2	42	1	0	0	0	0	1	0	0	0	16814	1667	58	2	1523	2	TYSND1	10	71906150	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	1203166	71906150	63628597	76	3125											
CYP2C9	1559	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	96748762	96748762	+	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	cctctgtgccgcccttctacCagctgtgcttcattcctgtc	3	14	7	17	1	3	0	1	0	2	0	5	0	4	0	5	0	4	2	5	0	1	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:96748762C>T	ENST00000260682.6	+	9	1462	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	484					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCCTTCTACCAGCTGTGCTT	0.498																																					Ovarian(54;1266 1406 16072 35076)	.											0													142	132	136					10																	96748762		2203	4300	6503	SO:0001587	stop_gained	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1450C>T	10.37:g.96748762C>T	ENSP00000260682:p.Gln484*		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Nonsense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034558	0.19590	.	.	ENSG00000138109	ENST00000260682	.	.	.	3.42	-6.84	0.01687	.	0.591503	0.15177	U	0.276321	.	.	.	.	.	.	0.37381	D	0.912041	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	3.6305	0.08130	0.4706:0.2525:0.1957:0.0813	.	.	.	.	X	484	.	ENSP00000260682:Q484X	Q	+	1	0	CYP2C9	96738752	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.646000	0.01998	-2.310000	0.00650	0.453000	0.30009	CAG		0.498	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		T	96748762	C	T	96748762	4	4	42	1	0	0	0	0	0	1	0	0	4168	595	21	4	1484	4	CYP2C9	10	96748762	Nonsense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	24842612	96748762	38785985	77	3126											
UBTD1	80019	hgsc.bcm.edu	37	chr10	99329915	99329915	+	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	gcaccctctgtgaatgctacGatgagctgggcaatcgctac	9	9	11	12	2	1	2	0	2	1	0	2	3	1	2	1	1	4	5	1	1	4	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:99329915G>A	ENST00000370664.3	+	3	655	c.319G>A	c.(319-321)Gat>Aat	p.D107N	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	107										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)		TGAATGCTACGATGAGCTGGG	0.582																																					Pancreas(100;169 2668 32720)	.											0													91	103	99					10																	99329915		2203	4300	6503	SO:0001583	missense	80019			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.319G>A	10.37:g.99329915G>A	ENSP00000359698:p.Asp107Asn		D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174620	0.94807	.	.	ENSG00000165886	ENST00000370664	T	0.80738	-1.41	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93167	0.6563	10	0.87932	D	0	-20.3796	18.6768	0.91531	0.0:0.0:1.0:0.0	.	107	Q9HAC8	UBTD1_HUMAN	N	107	ENSP00000359698:D107N	ENSP00000359698:D107N	D	+	1	0	UBTD1	99319905	1.000000	0.71417	0.968000	0.41197	0.946000	0.59487	9.813000	0.99286	2.687000	0.91594	0.655000	0.94253	GAT		0.582	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		A	99329915	G	A	99329915	3	1	42	1	0	0	0	0	1	0	0	0	16904	1058	37	1	329	1	UBTD1	10	99329915	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	2581153	99329915	36204832	78	3127											
DCLRE1A	9937	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	115609249	115609249	+	Missense_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	attatacttaagaccagaagGcaatattttcaaatacttcg	16	13	5	7	1	1	2	1	0	0	2	2	2	1	2	1	1	2	1	1	1	8	8			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:115609249G>A	ENST00000361384.2	-	2	2532	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.P539S	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	539	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGACCAGAAGGCAATATTTTC	0.383								Other identified genes with known or suspected DNA repair function																														.											0													125	127	126					10																	115609249		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1615C>T	10.37:g.115609249G>A	ENSP00000355185:p.Pro539Ser		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275052	0.23307	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.64991	-0.13;-0.13	5.18	2.31	0.28768	.	0.913298	0.09546	N	0.787542	T	0.53367	0.1792	L	0.56769	1.78	0.09310	N	1	B	0.24721	0.11	B	0.17979	0.02	T	0.41752	-0.9491	10	0.33141	T	0.24	-0.4037	5.248	0.15508	0.2294:0.0:0.6271:0.1435	.	539	Q6PJP8	DCR1A_HUMAN	S	539	ENSP00000355185:P539S;ENSP00000358311:P539S	ENSP00000355185:P539S	P	-	1	0	DCLRE1A	115599239	0.014000	0.17966	0.007000	0.13788	0.322000	0.28314	0.058000	0.14301	0.339000	0.23719	-0.302000	0.09304	CCT		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		A	115609249	G	A	115609249	3	1	42	1	0	0	0	0	1	0	0	0	4294	1203	42	3	1539	3	DCLRE1A	10	115609249	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	16279334	115609249	19925498	79	3128											
MUC6	4588	mdanderson.org	37	chr11	1018262	1018262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtgctgaatgagctGtgggcttggctggtcccact	4	15	14	8	0	0	2	0	2	0	0	1	2	1	2	1	3	2	5	1	3	1	3	rs78003962		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1018262G>T	ENST00000421673.2	-	31	4589	c.4539C>A	c.(4537-4539)caC>caA	p.H1513Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1513	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)		TGAATGAGCTGTGGGCTTGGC	0.542																																						.											0													227	240	236					11																	1018262		2167	4262	6429	SO:0001583	missense	4588			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.4539C>A	11.37:g.1018262G>T	ENSP00000406861:p.His1513Gln		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.293037	0.00245	.	.	ENSG00000184956	ENST00000421673	T	0.16196	2.36	2.56	-5.11	0.02901	.	.	.	.	.	T	0.08758	0.0217	L	0.37630	1.12	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.38779	-0.9645	9	0.13108	T	0.6	.	2.1779	0.03866	0.2718:0.3724:0.2397:0.116	.	1513	Q6W4X9	MUC6_HUMAN	Q	1513	ENSP00000406861:H1513Q	ENSP00000406861:H1513Q	H	-	3	2	MUC6	1008262	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.824000	0.00747	-2.466000	0.00533	-4.769000	0.00003	CAC		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1018262	G	T	1018262	3	4	42	1	0	0	0	0	1	0	0	0	9980	1368	48	5	2792	5	MUC6	11	1018262	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10		1018262	133988254	80	3129											
MUC5B	727897	broad.mit.edu	37	chr11	1271712	1271713	+	Frame_Shift_Ins	INS	-	-	C																															cctccctgggcaccacctggINSacccgcctatcacagaccac																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1271712_1271713insC	ENST00000529681.1	+	31	13660_13661	c.13602_13603insC	c.(13603-13605)accfs	p.T4535fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.T4538fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4535	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)		GCACCACCTGGACCCGCCTATC	0.624																																						.											0																																										SO:0001589	frameshift_variant	727897			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		Exception_encountered	11.37:g.1271712_1271713insC	ENSP00000436812:p.Thr4535fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.624	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1271713	-	C	1271712	7	5	42	1	0	1	1	0	0	0	0	0	9979	1183	41	0	13733	0	MUC5B	11	1271712	Frame_Shift_Ins	INS	-	TCGA-KN-8427-01A-11D-2310-10	253450	1271712	133734804	81	3130											
BRSK2	9024	broad.mit.edu;hgsc.bcm.edu	37	chr11	1466625	1466625	+	Missense_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	cgaccccgacgtgctggacaGcatgcactcactgggctgct	7	7	12	15	3	1	0	1	0	0	0	1	3	1	1	2	2	4	5	2	2	0	0	rs200112243		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1466625G>A	ENST00000528841.1	+	10	1298	c.914G>A	c.(913-915)aGc>aAc	p.S305N	BRSK2_ENST00000382179.1_Missense_Mutation_p.S351N|BRSK2_ENST00000528710.1_Missense_Mutation_p.S245N|BRSK2_ENST00000308230.5_Missense_Mutation_p.S305N|BRSK2_ENST00000531197.1_Missense_Mutation_p.S305N|BRSK2_ENST00000526678.1_Missense_Mutation_p.S305N|BRSK2_ENST00000308219.9_Missense_Mutation_p.S305N|BRSK2_ENST00000544817.1_5'UTR			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	305	UBA.				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)		GTGCTGGACAGCATGCACTCA	0.672																																						.											0													33	41	39					11																	1466625		2133	4244	6377	SO:0001583	missense	9024			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.914G>A	11.37:g.1466625G>A	ENSP00000432000:p.Ser305Asn		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749752	0.69533	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.63;-0.66;-0.63;-0.47;-0.49	3.55	3.55	0.40652	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	D	0.82779	0.5111	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;0.999;0.998;0.997	D;D;D;D;D	0.91635	0.999;0.986;0.999;0.954;0.962	T	0.82589	-0.0382	10	0.31617	T	0.26	.	15.6596	0.77174	0.0:0.0:1.0:0.0	.	305;351;305;305;305	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	N	305;305;305;305;305;245;351	ENSP00000310697:S305N;ENSP00000431152:S305N;ENSP00000310805:S305N;ENSP00000432000:S305N;ENSP00000433370:S305N;ENSP00000433235:S245N;ENSP00000371614:S351N	ENSP00000310697:S305N	S	+	2	0	BRSK2	1423201	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.367000	0.79558	1.993000	0.58246	0.462000	0.41574	AGC		0.672	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		A	1466625	G	A	1466625	3	1	42	1	0	0	0	0	1	0	0	0	1524	971	34	4	952	4	BRSK2	11	1466625	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	194913	1466625	133539891	82	3131											
MS4A5	64232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	60198312	60198312	+	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	tatgaccttttcttttggagTtatcttccttttcaccttgt	5	22	5	9	0	3	1	1	1	2	0	4	2	4	2	3	1	0	1	3	1	2	10			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:60198312T>G	ENST00000300190.2	+	2	283	c.197T>G	c.(196-198)gTt>gGt	p.V66G	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	66						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TCTTTTGGAGTTATCTTCCTT	0.373																																						.											0													241	236	238					11																	60198312		2203	4300	6503	SO:0001583	missense	64232			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.197T>G	11.37:g.60198312T>G	ENSP00000300190:p.Val66Gly		Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.573|4.573	0.106380|0.106380	0.08780|0.08780	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905|ENST00000300190	.|T	.|0.02280	.|4.36	4.82|4.82	2.48|2.48	0.30137|0.30137	.|.	.|0.667620	.|0.14473	.|N	.|0.317428	T|T	0.02727|0.02727	0.0082|0.0082	L|L	0.46885|0.46885	1.475|1.475	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.20887	.|0.049	.|B	.|0.29716	.|0.106	T|T	0.43130|0.43130	-0.9410|-0.9410	5|10	.|0.29301	.|T	.|0.29	-0.5522|-0.5522	5.1697|5.1697	0.15103|0.15103	0.0:0.2396:0.0:0.7604|0.0:0.2396:0.0:0.7604	.|.	.|66	.|Q9H3V2	.|MS4A5_HUMAN	R|G	39|66	.|ENSP00000300190:V66G	.|ENSP00000300190:V66G	S|V	+|+	3|2	2|0	MS4A5|MS4A5	59954888|59954888	0.026000|0.026000	0.19158|0.19158	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	1.186000|1.186000	0.32078|0.32078	0.882000|0.882000	0.36016|0.36016	0.533000|0.533000	0.62120|0.62120	AGT|GTT		0.373	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			G	60198312	T	G	60198312	3	3	42	1	0	0	0	0	1	0	0	0	9863	1725	60	5	203	5	MS4A5	11	60198312	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	58731687	60198312	74808204	83	3132											
MACROD1	28992	mdanderson.org	37	chr11	63767186	63767186	+	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	ctgcggagctcggcagcctgActggcgctgggctccccgta	4	7	15	15	4	0	1	0	1	0	0	2	2	1	2	3	4	3	5	3	4	1	1	rs709594	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:63767186A>G	ENST00000255681.6	-	6	780	c.714T>C	c.(712-714)agT>agC	p.S238S	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	238	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				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						CGGCAGCCTGACTGGCGCTGG	0.726													G|||	2143	0.427915	0.736	0.2493	5008	,	,		10778	0.1379		0.4463	False		,,,				2504	0.4182					.											0								G		2959,1321		1069,821,250	10	13	12		714	3.8	1	11	dbSNP_86	12	3770,4672		906,1958,1357	no	coding-synonymous	MACROD1	NM_014067.3		1975,2779,1607	GG,GA,AA		44.6577,30.8645,47.1074		238/326	63767186	6729,5993	2140	4221	6361	SO:0001819	synonymous_variant	28992			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.714T>C	11.37:g.63767186A>G			Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																				0.726	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		G	63767186	A	G	63767186	2	3	42	1	0	0	0	0	0	0	0	1	9145	272	10	2		2	MACROD1	11	63767186	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	3568874	63767186	71239330	84	3133											
GAL3ST3	89792	hgsc.bcm.edu;mdanderson.org	37	chr11	65811123	65811124	+	Missense_Mutation	DNP	AG	AG	CT																															cgagttccgcagaggagggcAgctcaaggggaacagcttgg																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:65811123_65811124AG>CT	ENST00000312006.4	-	3	431_432	c.150_151CT>AG	c.(148-153)agCTgc>agAGgc	p.50_51SC>RG	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.50_51SC>RG	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	50					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGAGGAGGGCAGCTCAAGGGGA	0.644																																						.											0																																										SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.150_151delinsCT	11.37:g.65811123_65811124delinsCT	ENSP00000308591:p.S50_C51delinsRG		Q14D05	Missense_Mutation	DNP	ENST00000312006.4	37	CCDS8128.1																																																																																				0.644	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		CT	65811124	AG	CT	65811123	3	2	42	1	0	0	0	0	1	0	0	0	6199	188	7	5	1148	5	GAL3ST3	11	65811123	Missense_Mutation	DNP	AG	TCGA-KN-8427-01A-11D-2310-10	2043937	65811123	69195393	85	3134	92	2									
GAL3ST3	89792	broad.mit.edu;bcgsc.ca	37	chr11	65811124	65811124	+	Missense_Mutation	SNP	G	G	T																															gagttccgcagaggagggcaGctcaaggggaacagcttggg																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:65811124G>T	ENST00000312006.4	-	3	431	c.150C>A	c.(148-150)agC>agA	p.S50R	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.S50R	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	50					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAGGAGGGCAGCTCAAGGGGA	0.647																																						.											0													19	16	17					11																	65811124		2171	4254	6425	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.150C>A	11.37:g.65811124G>T	ENSP00000308591:p.Ser50Arg		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056628	0.19907	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.16457	2.34;2.34	4.11	3.19	0.36642	.	0.458205	0.21075	N	0.080594	T	0.10121	0.0248	N	0.14661	0.345	0.32681	N	0.515536	B	0.33413	0.411	B	0.37198	0.243	T	0.13872	-1.0493	10	0.21540	T	0.41	-32.6987	9.5646	0.39391	0.1062:0.0:0.8938:0.0	.	50	Q96A11	G3ST3_HUMAN	R	50	ENSP00000308591:S50R;ENSP00000434829:S50R	ENSP00000308591:S50R	S	-	3	2	GAL3ST3	65567700	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.565000	0.53798	2.295000	0.77249	0.462000	0.41574	AGC		0.647	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65811124	G	T	65811124	3	4	42	1	0	0	0	0	1	0	0	0	6199	962	34	5	1149	5	GAL3ST3	11	65811124	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	1	65811124	69195392	86	3135	92	2									
MMP12	4321	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	102737125	102737125	+	RNA	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	ggcaaggttggccataaggaAgaaattaaattaacactggt	16	9	11	5	0	0	1	0	0	0	1	0	2	0	2	1	5	1	2	1	5	7	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:102737125A>C	ENST00000532855.1	-	0	1061							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GCCATAAGGAAGAAATTAAAT	0.353																																						.											0													72	75	74					11																	102737125		1822	4080	5902			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102737125A>C			B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37																																																																																					0.353	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		C	102737125	A	C	102737125	1	2	42	0	1	0	0	0	0	0	0	0	9651	59	3	5		5	MMP12	11	102737125	RNA	SNP	A	TCGA-KN-8427-01A-11D-2310-10	36926001	102737125	32269391	87	3136											
GRIA4	2893	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	105776029	105776029	+	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	aagcacaggacctagaaaggTgagccacgatcaaactgaaa	18	4	10	9	1	1	3	1	2	0	1	1	5	1	4	2	2	3	1	2	2	5	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:105776029T>G	ENST00000530497.1	+	8	1158		c.e8+2		GRIA4_ENST00000393127.2_Splice_Site|GRIA4_ENST00000525187.1_Splice_Site|GRIA4_ENST00000393125.2_Splice_Site|GRIA4_ENST00000282499.5_Splice_Site|GRIA4_ENST00000428631.2_Splice_Site			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						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)		CCTAGAAAGGTGAGCCACGAT	0.383																																						.											0													105	96	99					11																	105776029		2202	4299	6501	SO:0001630	splice_region_variant	2893			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.1158+2T>G	11.37:g.105776029T>G			Q86XE8	Splice_Site	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.678395	0.88542	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3825	0.83473	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA4	105281239	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.624000	0.83124	2.323000	0.78572	0.529000	0.55759	.		0.383	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		Intron	G	105776029	T	G	105776029	5	3	42	1	0	0	0	0	0	0	1	0	6770	1710	59	5	1190	5	GRIA4	11	105776029	Splice_Site	SNP	T	TCGA-KN-8427-01A-11D-2310-10	3038904	105776029	29230487	88	3137											
NTM	50863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	132081945	132081945	+	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	aaattgtagagatttcttcaGatatctccattaatgaaggg	14	14	8	5	0	3	3	1	1	2	2	4	4	3	3	1	1	0	1	1	1	5	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:132081945G>T	ENST00000374786.1	+	3	909	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	NTM_ENST00000425719.2_Missense_Mutation_p.D144Y|NTM_ENST00000374784.1_Missense_Mutation_p.D144Y|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.D144Y|NTM_ENST00000427481.2_Missense_Mutation_p.D135Y|NTM_ENST00000539799.1_Missense_Mutation_p.D144Y	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	144	Ig-like C2-type 2.				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						GATTTCTTCAGATATCTCCAT	0.383																																						.											0													86	85	85					11																	132081945		2201	4297	6498	SO:0001583	missense	50863			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.430G>T	11.37:g.132081945G>T	ENSP00000363918:p.Asp144Tyr		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052330	0.75960	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.70045	1.5;1.5;-0.45;1.5;1.5;1.5;1.5	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141134	0.64402	D	0.000005	T	0.79947	0.4534	M	0.90252	3.1	0.58432	D	0.999999	P;P;P;P;P;P	0.52170	0.951;0.951;0.717;0.871;0.717;0.844	P;P;B;P;B;B	0.52189	0.692;0.562;0.349;0.562;0.349;0.426	D	0.83633	0.0146	10	0.87932	D	0	-20.5157	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	144;135;144;144;144;144	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	Y	144;144;135;135;144;144;144	ENSP00000363923:D144Y;ENSP00000437668:D144Y;ENSP00000448104:D135Y;ENSP00000416320:D135Y;ENSP00000363918:D144Y;ENSP00000396722:D144Y;ENSP00000363916:D144Y	ENSP00000363916:D144Y	D	+	1	0	NTM	131587155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.891000	0.69782	2.941000	0.99782	0.655000	0.94253	GAT		0.383	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		T	132081945	G	T	132081945	3	4	42	1	0	0	0	0	1	0	0	0	10699	942	33	5	526	5	NTM	11	132081945	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	26305916	132081945	2924571	89	3138											
A2M	2	bcgsc.ca	37	chr12	9253745	9253745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaaatactcactgtctTcctgcttcacaagcagtcca	11	11	7	12	0	3	0	2	0	1	0	5	2	5	1	2	1	3	2	2	1	3	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:9253745T>C	ENST00000318602.7	-	13	1860	c.1553A>G	c.(1552-1554)gAa>gGa	p.E518G		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	518					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)	CTCACTGTCTTCCTGCTTCAC	0.428																																						.											0													60	71	68					12																	9253745		1969	4151	6120	SO:0001583	missense	2			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.1553A>G	12.37:g.9253745T>C	ENSP00000323929:p.Glu518Gly		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.476010	0.00165	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.64803	-0.12	4.93	-0.411	0.12370	Alpha-2-macroglobulin, N-terminal 2 (1);	0.997527	0.08122	N	0.994535	T	0.18467	0.0443	N	0.00099	-2.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31641	-0.9936	10	0.02654	T	1	.	8.7772	0.34769	0.0:0.4879:0.0:0.5121	.	518	P01023	A2MG_HUMAN	G	518;533	ENSP00000323929:E518G	ENSP00000323929:E518G	E	-	2	0	A2M	9145012	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.127000	0.10547	-0.243000	0.09653	-1.145000	0.01858	GAA		0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		C	9253745	T	C	9253745	3	2	42	1	0	0	0	0	1	0	0	0	4	1783	62	4	2967	4	A2M	12	9253745	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10		9253745	124598150	90	3139											
PRB2	653247	mdanderson.org	37	chr12	11546378	11546378	+	Missense_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	tggaggtgggggaccttgagGtttgttgcctccttgtgggg	3	13	19	6	0	0	1	0	1	0	0	1	3	1	3	3	7	1	2	3	7	0	4	rs200759746	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:11546378G>A	ENST00000389362.4	-	3	669	c.634C>T	c.(634-636)Cct>Tct	p.P212S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	212	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)			GGACCTTGAGGTTTGTTGCCT	0.602													g|||	9	0.00179712	0	0.0014	5008	,	,		19017	0.004		0.001	False		,,,				2504	0.0031					.											0													68	88	82					12																	11546378		2052	4138	6190	SO:0001583	missense	653247			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.634C>T	12.37:g.11546378G>A	ENSP00000374013:p.Pro212Ser		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.147	-1.095485	0.01858	.	.	ENSG00000121335	ENST00000389362	T	0.04015	3.73	1.23	-0.356	0.12583	.	0.674464	0.11286	U	0.579821	T	0.02929	0.0087	N	0.20530	0.585	0.09310	N	1	P	0.52061	0.95	P	0.45577	0.486	T	0.25606	-1.0127	10	0.07482	T	0.82	.	3.6218	0.08099	0.0:0.0:0.563:0.437	.	212	P02812	PRB2_HUMAN	S	212	ENSP00000374013:P212S	ENSP00000374013:P212S	P	-	1	0	PRB2	11437645	0.005000	0.15991	0.048000	0.18961	0.632000	0.37999	0.049000	0.14099	0.566000	0.29273	0.175000	0.17021	CCT		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		A	11546378	G	A	11546378	3	1	42	1	0	0	0	0	1	0	0	0	12443	1261	44	3	620	3	PRB2	12	11546378	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	2292633	11546378	122305517	91	3140											
ALG10B	144245	broad.mit.edu	37	chr12	38714025	38714025	+	Frame_Shift_Del	DEL	T	T	-																															gcagtatttccaacactttaTttttttaacttcctttatta																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:38714025delT	ENST00000308742.4	+	3	748	c.432delT	c.(430-432)tatfs	p.Y144fs	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	144					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAACACTTTATTTTTTTAACT	0.318																																						.											0													68	74	72					12																	38714025		2203	4295	6498	SO:0001589	frameshift_variant	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.432delT	12.37:g.38714025delT	ENSP00000310120:p.Tyr144fs		B2RPF4	Frame_Shift_Del	DEL	ENST00000308742.4	37	CCDS31772.1																																																																																				0.318	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		-	38714025	T	-	38714025	7	5	42	1	0	1	0	1	0	0	0	0	512	1500	52	0	442	0	ALG10B	12	38714025	Frame_Shift_Del	DEL	T	TCGA-KN-8427-01A-11D-2310-10	27167647	38714025	95137870	92	3141											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	53670499	53670499	+	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	caaggcggtgcgggccgacaCtggacaggaacgcttcaaca	11	4	14	12	4	1	0	1	0	0	0	1	3	1	2	1	5	3	1	1	5	3	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:53670499C>G	ENST00000257934.4	+	8	1887	c.1796C>G	c.(1795-1797)aCt>aGt	p.T599S	ESPL1_ENST00000552462.1_Missense_Mutation_p.T599S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	599					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						CGGGCCGACACTGGACAGGAA	0.662																																					Colon(53;1069 1201 2587 5382)	.											0													45	45	45					12																	53670499		2203	4300	6503	SO:0001583	missense	9700			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.1796C>G	12.37:g.53670499C>G	ENSP00000257934:p.Thr599Ser			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438324	0.62955	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13538	2.58;2.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.62723	1.935	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.00593	-1.1654	10	0.36615	T	0.2	.	18.0804	0.89440	0.0:1.0:0.0:0.0	.	599	Q14674	ESPL1_HUMAN	S	599;274;599	ENSP00000257934:T599S;ENSP00000449831:T599S	ENSP00000257934:T599S	T	+	2	0	ESPL1	51956766	1.000000	0.71417	0.403000	0.26384	0.152000	0.21847	7.220000	0.78008	2.808000	0.96608	0.655000	0.94253	ACT		0.662	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		G	53670499	C	G	53670499	3	3	42	1	0	0	0	0	1	0	0	0	5253	565	20	5	1822	5	ESPL1	12	53670499	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	14956474	53670499	80181396	93	3142											
LATS2	26524	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr13	21557476	21557476	+	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	tgttatcaggcttgatgtctCggtggatgaagcccatcttg	7	14	12	8	1	3	2	1	2	2	0	4	3	3	3	1	3	1	2	1	3	2	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr13:21557476C>T	ENST00000382592.4	-	5	2774	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	LATS2_ENST00000542899.1_Missense_Mutation_p.R790Q	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)		CTTGATGTCTCGGTGGATGAA	0.502																																						.											0													107	95	99					13																	21557476		2203	4300	6503	SO:0001583	missense	26524			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.2369G>A	13.37:g.21557476C>T	ENSP00000372035:p.Arg790Gln			Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753970	0.89843	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.19250	2.16;2.16	5.05	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.61751	0.2372	H	0.97758	4.07	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.77661	-0.2504	10	0.87932	D	0	.	14.9578	0.71131	0.144:0.856:0.0:0.0	.	790	Q9NRM7	LATS2_HUMAN	Q	790	ENSP00000372035:R790Q;ENSP00000441817:R790Q	ENSP00000372035:R790Q	R	-	2	0	LATS2	20455476	1.000000	0.71417	0.951000	0.38953	0.998000	0.95712	7.568000	0.82369	1.338000	0.45544	0.555000	0.69702	CGA		0.502	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			T	21557476	C	T	21557476	3	4	42	1	0	0	0	0	1	0	0	0	8647	884	31	1	913	1	LATS2	13	21557476	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		21557476	93612402	94	3143											
KIF26A	26153	mdanderson.org	37	chr14	104642341	104642341	+	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	ctggcctcggggtcccggccAgtcagcatcatcagcagcat	7	7	12	15	2	3	0	3	0	0	0	5	0	4	0	3	4	3	3	3	4	0	0	rs2487304	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr14:104642341A>G	ENST00000423312.2	+	12	3216	c.3216A>G	c.(3214-3216)ccA>ccG	p.P1072P	KIF26A_ENST00000315264.7_Silent_p.P933P	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1072					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)		GGTCCCGGCCAGTCAGCATCA	0.697													G|||	3898	0.778355	0.8306	0.7205	5008	,	,		14332	0.7897		0.7097	False		,,,				2504	0.8078					.											0								G		3234,646		1359,516,65	7	9	8		3216	-8.6	0.3	14	dbSNP_100	8	5992,2234		2221,1550,342	no	coding-synonymous	KIF26A	NM_015656.1		3580,2066,407	GG,GA,AA		27.1578,16.6495,23.7899		1072/1883	104642341	9226,2880	1940	4113	6053	SO:0001819	synonymous_variant	26153			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.3216A>G	14.37:g.104642341A>G			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			G	104642341	A	G	104642341	2	3	42	1	0	0	0	0	0	0	0	1	8294	175	7	2		2	KIF26A	14	104642341	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10		104642341	2707199	95	3144											
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	86808034	86808034	+	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	cactgtccccctcccaccacCcagcctatgttggaacgaaa	10	7	6	18	1	0	0	0	0	0	0	2	2	2	1	6	1	2	1	6	1	3	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr15:86808034C>A	ENST00000441037.2	+	10	1589	c.1494C>A	c.(1492-1494)acC>acA	p.T498T	AGBL1_ENST00000389298.3_Silent_p.T229T|AGBL1_ENST00000421325.2_Silent_p.T498T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	498					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTCCCACCACCCAGCCTATGT	0.458																																						.											0													77	76	76					15																	86808034		1933	4133	6066	SO:0001819	synonymous_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1494C>A	15.37:g.86808034C>A			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.458	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86808034	C	A	86808034	2	1	42	1	0	0	0	0	0	0	0	1	375	610	22	5		5	AGBL1	15	86808034	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10		86808034	15723358	96	3145											
DNAH9	1770	hgsc.bcm.edu	37	chr17	11540080	11540080	+	Missense_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	ggatgatctacagtcagcacGtccaggaggaagcagaactt	13	7	12	9	1	2	2	1	1	1	1	3	5	3	5	1	3	4	2	1	3	3	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:11540080G>A	ENST00000262442.4	+	9	1833	c.1765G>A	c.(1765-1767)Gtc>Atc	p.V589I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V589I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	589	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)		CAGTCAGCACGTCCAGGAGGA	0.438																																						.											0													142	136	138					17																	11540080		2203	4300	6503	SO:0001583	missense	1770			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.1765G>A	17.37:g.11540080G>A	ENSP00000262442:p.Val589Ile		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	8.137	0.784355	0.16189	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55930	0.49;0.49	5.7	-2.02	0.07388	Dynein heavy chain, domain-1 (1);	0.744667	0.11942	N	0.514613	T	0.29882	0.0747	N	0.17723	0.515	0.40336	D	0.978987	B	0.11235	0.004	B	0.06405	0.002	T	0.09952	-1.0651	10	0.22109	T	0.4	.	6.3992	0.21628	0.4728:0.1275:0.3997:0.0	.	589	Q9NYC9	DYH9_HUMAN	I	589	ENSP00000262442:V589I;ENSP00000414874:V589I	ENSP00000262442:V589I	V	+	1	0	DNAH9	11480805	0.000000	0.05858	0.600000	0.28864	0.827000	0.46813	-0.478000	0.06575	-0.157000	0.11059	0.655000	0.94253	GTC		0.438	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11540080	G	A	11540080	3	1	42	1	0	0	0	0	1	0	0	0	4608	1145	40	1	1799	1	DNAH9	17	11540080	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10		11540080	69655130	97	3146											
TMUB2	79089	ucsc.edu;mdanderson.org	37	chr17	42268154	42268154	+	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	atcaattaccgccaattcttCacagcacctgccactgtctc	10	11	4	16	1	4	0	2	0	2	0	5	0	4	0	4	0	3	1	4	0	3	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:42268154C>T	ENST00000587989.1	+	4	1041	c.888C>T	c.(886-888)ttC>ttT	p.F296F	TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000319511.6_Silent_p.F276F|TMUB2_ENST00000538716.2_Silent_p.F296F|TMUB2_ENST00000589785.1_Silent_p.F276F|TMUB2_ENST00000357984.3_Silent_p.F276F|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000446571.3_Silent_p.F239F|TMUB2_ENST00000587172.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	296						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)		GCCAATTCTTCACAGCACCTG	0.507																																						.											0													126	111	116					17																	42268154		2203	4300	6503	SO:0001819	synonymous_variant	79089				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.888C>T	17.37:g.42268154C>T			B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	CCDS54134.1																																																																																				0.507	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		T	42268154	C	T	42268154	2	4	42	1	0	0	0	0	0	0	0	1	16262	825	29	4		4	TMUB2	17	42268154	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	30728074	42268154	38927056	98	3147											
SP2	6668	broad.mit.edu;mdanderson.org	37	chr17	46000417	46000417	+	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	gcagccacctctaacaccacCtgtagcagccctgcatcccg	9	6	7	19	1	1	0	0	0	1	0	2	0	2	0	6	0	5	4	6	0	2	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:46000417C>G	ENST00000376741.4	+	4	1286	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	383					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						CTAACACCACCTGTAGCAGCC	0.607																																						.											0													83	78	80					17																	46000417		2203	4300	6503	SO:0001819	synonymous_variant	6668				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.1149C>G	17.37:g.46000417C>G			A6NK74	Silent	SNP	ENST00000376741.4	37	CCDS11521.2																																																																																				0.607	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		G	46000417	C	G	46000417	2	3	42	1	0	0	0	0	0	0	0	1	14964	668	24	5		5	SP2	17	46000417	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	3732263	46000417	35194793	99	3148											
ITGA3	3675	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	48154412	48154412	+	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	cacccggacctcggagcgctCcggggaggacgcccacgagg	7	2	16	16	6	0	0	0	0	0	0	2	5	1	4	4	6	1	1	4	6	0	0			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:48154412C>G	ENST00000320031.8	+	15	2327	c.1997C>G	c.(1996-1998)tCc>tGc	p.S666C	ITGA3_ENST00000007722.7_Missense_Mutation_p.S666C	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)	666					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						TCGGAGCGCTCCGGGGAGGAC	0.687																																						.											0													18	18	18					17																	48154412		2202	4298	6500	SO:0001583	missense	3675			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.1997C>G	17.37:g.48154412C>G	ENSP00000315190:p.Ser666Cys		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687351	0.14973	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.48522	0.81;0.81	5.44	3.49	0.39957	Integrin alpha-2 (1);	0.576176	0.18753	N	0.132140	T	0.22244	0.0536	N	0.08118	0	0.09310	N	0.999999	B;B	0.29531	0.086;0.247	B;B	0.24394	0.015;0.053	T	0.12708	-1.0537	9	.	.	.	.	6.737	0.23415	0.1437:0.7021:0.0:0.1542	.	666;666	P26006-1;P26006	.;ITA3_HUMAN	C	666;652;666	ENSP00000007722:S666C;ENSP00000315190:S666C	.	S	+	2	0	ITGA3	45509411	0.034000	0.19679	0.146000	0.22360	0.008000	0.06430	2.241000	0.43097	0.877000	0.35895	-0.137000	0.14449	TCC		0.687	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		G	48154412	C	G	48154412	3	3	42	1	0	0	0	0	1	0	0	0	7877	855	30	5	2055	5	ITGA3	17	48154412	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	2153995	48154412	33040798	100	3149											
COL1A1	1277	broad.mit.edu;bcgsc.ca	37	chr17	48267232	48267232	+	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	atactcacagggggaccagcGctgccgcgagcacctttggc	8	6	13	14	3	1	0	1	0	0	0	1	2	1	1	3	3	4	2	3	3	1	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:48267232G>C	ENST00000225964.5	-	37	2719	c.2601C>G	c.(2599-2601)agC>agG	p.S867R		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	867	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGGGACCAGCGCTGCCGCGAG	0.652			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															.		Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0													31	30	30					17																	48267232		2202	4299	6501	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2601C>G	17.37:g.48267232G>C	ENSP00000225964:p.Ser867Arg		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513412	0.44660	.	.	ENSG00000108821	ENST00000225964	D	0.93307	-3.2	5.41	-6.02	0.02192	.	0.616511	0.16164	N	0.226603	D	0.87253	0.6131	L	0.28458	0.855	0.23943	N	0.996394	B	0.27286	0.174	B	0.31751	0.135	T	0.69548	-0.5116	10	0.27785	T	0.31	.	16.3739	0.83378	0.8239:0.0:0.1761:0.0	.	867	P02452	CO1A1_HUMAN	R	867	ENSP00000225964:S867R	ENSP00000225964:S867R	S	-	3	2	COL1A1	45622231	0.000000	0.05858	0.430000	0.26722	0.774000	0.43823	-0.597000	0.05713	-1.245000	0.02513	0.313000	0.20887	AGC		0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			C	48267232	G	C	48267232	3	2	42	1	0	0	0	0	1	0	0	0	3677	1078	38	5	1853	5	COL1A1	17	48267232	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	112820	48267232	32927978	101	3150											
ABCA6	23460	mdanderson.org	37	chr17	67092895	67092895	+	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	agtgcctgcccacaccagtaAgcagaagtgtagaggcctga	12	6	12	11	0	0	3	0	1	0	2	0	3	0	3	4	1	3	3	4	1	3	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:67092895A>C	ENST00000284425.2	-	24	3342	c.3168T>G	c.(3166-3168)gcT>gcG	p.A1056A	ABCA6_ENST00000446604.2_5'UTR|MIR4524B_ENST00000581569.1_RNA	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1056					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)					CACACCAGTAAGCAGAAGTGT	0.333																																						.											0													34	38	36					17																	67092895		2203	4298	6501	SO:0001819	synonymous_variant	23460			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.3168T>G	17.37:g.67092895A>C			Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																				0.333	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		C	67092895	A	C	67092895	2	2	42	1	0	0	0	0	0	0	0	1	36	59	3	5		5	ABCA6	17	67092895	Silent	SNP	A	TCGA-KN-8427-01A-11D-2310-10	18825663	67092895	14102315	102	3151											
KIF19	124602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	72348987	72348987	+	Missense_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	ccttgcccaaaattaccccaGcaggaacctcactgacccca	12	6	5	18	0	1	1	1	1	0	0	1	2	1	2	7	1	4	1	7	1	4	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:72348987G>A	ENST00000389916.4	+	15	2146	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	670					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						AATTACCCCAGCAGGAACCTC	0.567																																						.											0													124	132	129					17																	72348987		1976	4173	6149	SO:0001583	missense	124602			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.2008G>A	17.37:g.72348987G>A	ENSP00000374566:p.Ala670Thr		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031178	0.35797	.	.	ENSG00000196169	ENST00000389916	T	0.70986	-0.53	5.22	3.19	0.36642	.	.	.	.	.	T	0.56688	0.2002	L	0.47716	1.5	0.28564	N	0.91098	P	0.39391	0.671	B	0.32864	0.154	T	0.44112	-0.9349	9	0.13853	T	0.58	.	10.0998	0.42497	0.077:0.1383:0.7847:0.0	.	670	Q2TAC6	KIF19_HUMAN	T	670	ENSP00000374566:A670T	ENSP00000374566:A670T	A	+	1	0	KIF19	69860582	0.018000	0.18449	0.154000	0.22540	0.734000	0.41952	1.180000	0.32005	0.695000	0.31675	0.456000	0.33151	GCA		0.567	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72348987	G	A	72348987	3	1	42	1	0	0	0	0	1	0	0	0	8282	971	34	4	2066	4	KIF19	17	72348987	Missense_Mutation	SNP	G	TCGA-KN-8427-01A-11D-2310-10	5256092	72348987	8846223	103	3152											
BAIAP2	10458	broad.mit.edu	37	chr17	79080558	79080558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacagcctgcagcaagggAagagcagcagcacgggcaac	13	2	13	13	1	0	1	0	0	0	1	0	2	0	2	2	2	8	6	2	2	4	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:79080558A>G	ENST00000321300.6	+	12	1444	c.1351A>G	c.(1351-1353)Aag>Gag	p.K451E	BAIAP2_ENST00000392411.3_Missense_Mutation_p.K373E|BAIAP2_ENST00000321280.7_Missense_Mutation_p.K451E|BAIAP2_ENST00000575712.1_Missense_Mutation_p.K451E|BAIAP2_ENST00000435091.3_Missense_Mutation_p.K451E|BAIAP2_ENST00000416299.2_Missense_Mutation_p.K314E|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K484E|BAIAP2_ENST00000428708.2_Missense_Mutation_p.K451E	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	451					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCAGCAAGGGAAGAGCAGCAG	0.706																																						.											0													59	59	59					17																	79080558		2202	4298	6500	SO:0001583	missense	10458			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1351A>G	17.37:g.79080558A>G	ENSP00000316338:p.Lys451Glu		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741905	0.49151	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.33438	1.85;1.86;1.41;1.41;1.86;1.42	4.69	4.69	0.59074	.	0.167559	0.51477	D	0.000086	T	0.21962	0.0529	L	0.39898	1.24	0.50467	D	0.99987	B;P;P;B;B;B;B;B;B	0.44627	0.411;0.515;0.839;0.06;0.029;0.227;0.099;0.068;0.029	B;B;B;B;B;B;B;B;B	0.35312	0.11;0.093;0.2;0.07;0.064;0.093;0.147;0.093;0.093	T	0.03829	-1.1000	10	0.22706	T	0.39	-23.9754	13.1745	0.59617	1.0:0.0:0.0:0.0	.	314;373;452;451;451;451;451;452;451	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	E	451;451;451;451;373;314	ENSP00000316338:K451E;ENSP00000401022:K451E;ENSP00000413069:K451E;ENSP00000315685:K451E;ENSP00000376211:K373E;ENSP00000391837:K314E	ENSP00000315685:K451E	K	+	1	0	BAIAP2	76695153	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	8.497000	0.90488	1.769000	0.52152	0.248000	0.18094	AAG		0.706	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			G	79080558	A	G	79080558	3	3	42	1	0	0	0	0	1	0	0	0	1301	247	9	4	1397	4	BAIAP2	17	79080558	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	6731571	79080558	2114652	104	3153											
FSCN2	25794	mdanderson.org	37	chr17	79495969	79495969	+	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	ggaccgtgcacctggccatcCacccgcaggcccacctgctg	6	5	11	19	2	0	0	0	0	0	0	1	1	1	1	7	3	2	3	7	3	0	0	rs143796236	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:79495969C>T	ENST00000417245.2	+	1	548	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.H138Y	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	138					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)			CCTGGCCATCCACCCGCAGGC	0.716													C|||	8	0.00159744	0	0	5008	,	,		16925	0		0.007	False		,,,				2504	0.001					.											0								C	TYR/HIS,TYR/HIS	1,4181		0,1,2090	8	10	9		412,412	4.8	1	17	dbSNP_134	9	71,8275		0,71,4102	yes	missense,missense	FSCN2	NM_001077182.2,NM_012418.3	83,83	0,72,6192	TT,TC,CC		0.8507,0.0239,0.5747	probably-damaging,probably-damaging	138/517,138/493	79495969	72,12456	2091	4173	6264	SO:0001583	missense	25794			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.412C>T	17.37:g.79495969C>T	ENSP00000388716:p.His138Tyr		A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	CCDS45811.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	26.6	4.751103	0.89753	2.39E-4	0.008507	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.24151	1.87;1.87	4.78	4.78	0.61160	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.75484	0.978;0.986	T	0.62704	-0.6798	10	0.87932	D	0	-21.2088	16.5597	0.84537	0.0:1.0:0.0:0.0	.	138;138	O14926;A8MRA6	FSCN2_HUMAN;.	Y	138	ENSP00000388716:H138Y;ENSP00000334665:H138Y	ENSP00000334665:H138Y	H	+	1	0	FSCN2	77110564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.216000	0.77974	2.169000	0.68431	0.411000	0.27672	CAC		0.716	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		T	79495969	C	T	79495969	3	4	42	1	0	0	0	0	1	0	0	0	6068	594	21	4	414	4	FSCN2	17	79495969	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	415411	79495969	1699241	105	3154											
DSG2	1829	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr18	29122688	29122688	+	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	tacccagtttacaggggccaCaggcgctatcatgaccactg	10	8	10	13	1	1	1	1	1	0	0	1	1	1	1	3	3	2	2	3	3	3	4			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr18:29122688C>T	ENST00000261590.8	+	14	2416	c.2207C>T	c.(2206-2208)aCa>aTa	p.T736I	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	736					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)			ACAGGGGCCACAGGCGCTATC	0.552																																						.											0													102	108	106					18																	29122688		2011	4187	6198	SO:0001583	missense	1829			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.2207C>T	18.37:g.29122688C>T	ENSP00000261590:p.Thr736Ile		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258185	0.39896	.	.	ENSG00000046604	ENST00000261590	T	0.59772	0.24	5.97	5.1	0.69264	.	0.803958	0.11227	N	0.586116	T	0.42675	0.1213	N	0.14661	0.345	0.42832	D	0.994021	B	0.14805	0.011	B	0.09377	0.004	T	0.18053	-1.0349	10	0.38643	T	0.18	.	12.7234	0.57154	0.0:0.9209:0.0:0.0791	.	736	Q14126	DSG2_HUMAN	I	736	ENSP00000261590:T736I	ENSP00000261590:T736I	T	+	2	0	DSG2	27376686	0.002000	0.14202	0.047000	0.18901	0.003000	0.03518	0.773000	0.26661	1.522000	0.49001	0.655000	0.94253	ACA		0.552	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		T	29122688	C	T	29122688	3	4	42	1	0	0	0	0	1	0	0	0	4777	478	17	4	2261	4	DSG2	18	29122688	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		29122688	48954560	106	3155											
HCN2	610	mdanderson.org	37	chr19	613898	613898	+	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	cgcacggcgagcgtgcgggcTgacacctactgccgcctcta	6	6	13	16	6	1	1	0	1	1	0	1	2	1	1	3	2	4	2	3	2	2	2	rs1054786	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:613898T>C	ENST00000251287.2	+	7	1925	c.1872T>C	c.(1870-1872)gcT>gcC	p.A624A	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	624					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)		GCGTGCGGGCTGACACCTACT	0.706													c|||	4115	0.821685	0.9796	0.7349	5008	,	,		4851	0.8958		0.5865	False		,,,				2504	0.8354				Melanoma(145;1175 2427 8056 36306)	.											0								C		4024,366		1851,322,22	28	29	28		1872	-7.7	0.6	19	dbSNP_86	28	4945,3649		1422,2101,774	no	coding-synonymous	HCN2	NM_001194.3		3273,2423,796	CC,CT,TT		42.4599,8.3371,30.9227		624/890	613898	8969,4015	2195	4297	6492	SO:0001819	synonymous_variant	610			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.1872T>C	19.37:g.613898T>C			O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																				0.706	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		C	613898	T	C	613898	2	2	42	1	0	0	0	0	0	0	0	1	6997	1567	55	2		2	HCN2	19	613898	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10		613898	58515085	107	3156											
MUC16	94025	mdanderson.org	37	chr19	8999441	8999441	+	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	gtgtaggggcccagctcagtGatgctgtgggtcagctggct	5	10	17	9	0	2	1	2	1	0	0	2	1	2	1	1	4	3	5	1	4	1	1	rs80293661		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:8999441G>A	ENST00000397910.4	-	56	40937	c.40734C>T	c.(40732-40734)atC>atT	p.I13578I	MUC16_ENST00000380951.5_Silent_p.I219I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13580	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGCTCAGTGATGCTGTGGG	0.572																																						.											0													233	195	208					19																	8999441		2056	4205	6261	SO:0001819	synonymous_variant	94025			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.40734C>T	19.37:g.8999441G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.394273	0.01175	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.95	1.9	0.25705	.	.	.	.	.	T	0.37544	0.1007	.	.	.	.	.	.	.	.	.	.	.	.	T	0.42531	-0.9446	3	.	.	.	.	5.174	0.15126	0.1723:0.0:0.8277:0.0	.	.	.	.	L	418	.	.	S	-	2	0	MUC16	8860441	0.993000	0.37304	0.014000	0.15608	0.016000	0.09150	1.607000	0.36836	0.786000	0.33708	0.555000	0.69702	TCA		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8999441	G	A	8999441	2	1	42	1	0	0	0	0	0	0	0	1	9973	1280	45	4		4	MUC16	19	8999441	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10	8385543	8999441	50129542	108	3157											
ATG4D	84971	bcgsc.ca	37	chr19	10654987	10654987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagttcctgacagcctggaAcaacgtcaagtacggtgagg	12	7	12	10	2	1	2	1	2	0	0	2	3	2	3	2	3	4	2	2	3	5	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:10654987A>G	ENST00000309469.4	+	1	394	c.221A>G	c.(220-222)aAc>aGc	p.N74S	ATG4D_ENST00000540862.1_5'Flank	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	74	Cryptic mitochondrial signal peptide.				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)			ACAGCCTGGAACAACGTCAAG	0.652																																						.											0													9	7	8					19																	10654987		2016	3899	5915	SO:0001583	missense	84971			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	ENST00000309469.4:c.221A>G	19.37:g.10654987A>G	ENSP00000311318:p.Asn74Ser		Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	a	17.69	3.452721	0.63290	.	.	ENSG00000130734	ENST00000309469	T	0.41758	0.99	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	T	0.55955	0.1953	M	0.78049	2.395	0.80722	D	1	D;D	0.63880	0.993;0.967	P;P	0.56163	0.793;0.792	T	0.57923	-0.7727	10	0.36615	T	0.2	-16.6651	11.7064	0.51599	1.0:0.0:0.0:0.0	.	74;74	B7ZAY9;Q86TL0	.;ATG4D_HUMAN	S	74	ENSP00000311318:N74S	ENSP00000311318:N74S	N	+	2	0	ATG4D	10515987	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	8.697000	0.91307	1.406000	0.46857	0.387000	0.25754	AAC		0.652	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		G	10654987	A	G	10654987	3	3	42	1	0	0	0	0	1	0	0	0	1099	43	2	2	223	2	ATG4D	19	10654987	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	1655546	10654987	48473996	109	3158											
ZNF563	147837	broad.mit.edu	37	chr19	12433413	12433423	+	Frame_Shift_Del	DEL	TTCCTGATGGT	TTCCTGATGGT	-																															ccttacttatacagtccaggTtcctgatggtttcttgcatc																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TTCCTGATGGT	TTCCTGATGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12433413_12433423delTTCCTGATGGT	ENST00000293725.5	-	2	311_321	c.106_116delACCATCAGGAA	c.(106-117)accatcaggaacfs	p.TIRN36fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.TIRN36fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	36	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.R38R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACAGTCCAGGTTCCTGATGGTTTCTTGCATC	0.417																																					GBM(39;623 795 5132 29510 31476)	.											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.106_116delACCATCAGGAA	19.37:g.12433413_12433423delTTCCTGATGGT	ENSP00000293725:p.Thr36fs		B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	CCDS12270.1																																																																																				0.417	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		-	12433423	TTCCTGATGGT	-	12433413	7	5	42	1	0	1	0	1	0	0	0	0	17991	1725	60	0	1326	0	ZNF563	19	12433413	Frame_Shift_Del	DEL	TTCCTGATGGT	TCGA-KN-8427-01A-11D-2310-10	1778426	12433413	46695570	110	3159	93	2									
ZNF563	147837	bcgsc.ca	37	chr19	12433414	12433424	+	Frame_Shift_Del	DEL	TTCCTGATGGT	TTCCTGATGGT	-																															cttacttatacagtccaggtTcctgatggtttcttgcatca																										TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TTCCTGATGGT	TTCCTGATGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12433414_12433424delTTCCTGATGGT	ENST00000293725.5	-	2	310_320	c.105_115delACCATCAGGAA	c.(103-117)gaaccatcaggaaacfs	p.PSGN36fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.PSGN36fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	36	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.R38R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAGTCCAGGTTCCTGATGGTTTCTTGCATCA	0.417																																					GBM(39;623 795 5132 29510 31476)	.											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.105_115delACCATCAGGAA	19.37:g.12433414_12433424delTTCCTGATGGT	ENSP00000293725:p.Pro36fs		B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	CCDS12270.1																																																																																				0.417	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		-	12433424	TTCCTGATGGT	-	12433414	7	5	42	1	0	1	0	1	0	0	0	0	17991	1783	62	0	1327	0	ZNF563	19	12433414	Frame_Shift_Del	DEL	TTCCTGATGGT	TCGA-KN-8427-01A-11D-2310-10	1	12433414	46695569	111	3160	93	2									
ZNF799	90576	mdanderson.org	37	chr19	12502998	12502998	+	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	agttccatctttactttcaaCaaatctctctaacatacgac	13	14	2	12	1	4	0	1	0	3	0	6	1	5	0	1	0	4	1	1	0	5	6			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12502998C>T	ENST00000430385.3	-	4	414	c.214G>A	c.(214-216)Gtt>Att	p.V72I	ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.V72I|ZNF799_ENST00000419318.1_Missense_Mutation_p.V40I|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	72	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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTACTTTCAACAAATCTCTCT	0.333																																						.											0													63	58	60					19																	12502998		2202	4280	6482	SO:0001583	missense	90576			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.214G>A	19.37:g.12502998C>T	ENSP00000411084:p.Val72Ile			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	1.357	-0.589722	0.03799	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07800	3.16;3.27	0.92	-1.84	0.07809	Krueppel-associated box (1);	.	.	.	.	T	0.03871	0.0109	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.40001	-0.9586	9	0.42905	T	0.14	.	2.6031	0.04871	0.5009:0.2585:0.0:0.2406	.	72	Q96GE5	ZN799_HUMAN	I	40;72	ENSP00000415278:V40I;ENSP00000411084:V72I	ENSP00000415278:V40I	V	-	1	0	ZNF799	12363998	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.148000	0.16224	-1.109000	0.02996	-0.719000	0.03609	GTT		0.333	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12502998	C	T	12502998	3	4	42	1	0	0	0	0	1	0	0	0	18163	478	17	4	1721	4	ZNF799	19	12502998	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	69584	12502998	46625985	112	3161											
PRDX2	7001	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	12911998	12911998	+	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	tagtccgacagcttcacctcTttgaaggcgccatcaaccac	10	9	7	15	2	3	1	2	1	1	0	4	2	4	1	4	1	2	1	4	1	3	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12911998T>C	ENST00000301522.2	-	2	206	c.78A>G	c.(76-78)aaA>aaG	p.K26K	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Silent_p.K26K|PRDX2_ENST00000334482.5_Silent_p.K26K	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	26	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCTTCACCTCTTTGAAGGCGC	0.637																																						.											0													34	34	34					19																	12911998		2203	4300	6503	SO:0001819	synonymous_variant	7001				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.78A>G	19.37:g.12911998T>C			A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Silent	SNP	ENST00000301522.2	37	CCDS12281.1																																																																																				0.637	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		C	12911998	T	C	12911998	2	2	42	1	0	0	0	0	0	0	0	1	12465	1606	56	2		2	PRDX2	19	12911998	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10	409000	12911998	46216985	113	3162											
CYP4F11	57834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	16025181	16025181	+	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	tgatgttctcttggtcgaaaCggaaggggtcgtagacctgc	8	11	14	8	3	1	2	0	1	1	1	4	4	1	3	1	4	2	2	1	4	3	3	rs200410691		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:16025181C>T	ENST00000402119.4	-	11	1757	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	CYP4F11_ENST00000326742.8_Silent_p.P422P|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R119H|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R444H	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						TTGGTCGAAACGGAAGGGGTC	0.587																																						.											0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135	135	135		1331,1331	2.9	0.8	19		135	0,8600		0,0,4300	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	444/525,444/525	16025181	1,13005	2203	4300	6503	SO:0001583	missense	57834			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.1331G>A	19.37:g.16025181C>T	ENSP00000384588:p.Arg444His			Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.611014	0.46631	2.27E-4	0.0	ENSG00000171903	ENST00000402119;ENST00000248041	D;D	0.94000	-3.33;-3.33	2.93	2.93	0.34026	.	0.000000	0.64402	U	0.000003	D	0.96731	0.8933	M	0.90483	3.12	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96926	0.9677	10	0.87932	D	0	.	11.6202	0.51113	0.0:1.0:0.0:0.0	.	444	Q9HBI6	CP4FB_HUMAN	H	444	ENSP00000384588:R444H;ENSP00000248041:R444H	ENSP00000248041:R444H	R	-	2	0	CYP4F11	15886181	1.000000	0.71417	0.763000	0.31416	0.009000	0.06853	6.462000	0.73526	1.621000	0.50320	0.462000	0.41574	CGT		0.587	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		T	16025181	C	T	16025181	3	4	42	1	0	0	0	0	1	0	0	0	4186	536	19	1	251	1	CYP4F11	19	16025181	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	3113183	16025181	43103802	114	3163											
UNC13A	23025	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	17756839	17756839	+	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	agatggtttttgtccgtttcTtggtcttcccgacctggacg	4	16	11	10	3	2	1	0	0	2	1	4	3	4	2	3	3	0	2	3	3	0	5	rs543896701		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:17756839T>G	ENST00000519716.2	-	18	2125	c.2126A>C	c.(2125-2127)aAg>aCg	p.K709T	UNC13A_ENST00000550896.1_Missense_Mutation_p.K707T|UNC13A_ENST00000252773.7_Missense_Mutation_p.K709T|UNC13A_ENST00000552293.1_Missense_Mutation_p.K709T|UNC13A_ENST00000428389.2_Missense_Mutation_p.K797T|UNC13A_ENST00000551649.1_Missense_Mutation_p.K709T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	709	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGTCCGTTTCTTGGTCTTCCC	0.577																																						.											0													85	81	83					19																	17756839		1970	4183	6153	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2126A>C	19.37:g.17756839T>G	ENSP00000429562:p.Lys709Thr		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883115	0.72410	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	3.85	3.85	0.44370	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.72558	0.3475	N	0.25031	0.7	0.53688	D	0.999976	D	0.76494	0.999	D	0.83275	0.996	T	0.75528	-0.3286	10	0.87932	D	0	-25.0588	10.8835	0.46953	0.0:0.0:0.0:1.0	.	709	Q9UPW8	UN13A_HUMAN	T	709;797;709;709;709;707	ENSP00000429562:K709T;ENSP00000400409:K797T;ENSP00000252773:K709T;ENSP00000447236:K709T;ENSP00000447572:K709T;ENSP00000446831:K707T	ENSP00000252773:K709T	K	-	2	0	UNC13A	17617839	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.846000	0.86887	1.526000	0.49068	0.260000	0.18958	AAG		0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		G	17756839	T	G	17756839	3	3	42	1	0	0	0	0	1	0	0	0	16981	1609	56	5	3089	5	UNC13A	19	17756839	Missense_Mutation	SNP	T	TCGA-KN-8427-01A-11D-2310-10	1731658	17756839	41372144	115	3164											
ANKRD27	84079	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	33113433	33113433	+	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	atgacgccttggtagccccaGcgggcagcaatgtgtagagg	9	7	15	10	2	0	2	0	1	0	1	0	2	0	2	3	3	3	4	3	3	3	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:33113433G>T	ENST00000306065.4	-	18	1880	c.1722C>A	c.(1720-1722)cgC>cgA	p.R574R		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	574					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTAGCCCCAGCGGGCAGCAA	0.532																																						.											0													175	162	167					19																	33113433		2203	4300	6503	SO:0001819	synonymous_variant	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1722C>A	19.37:g.33113433G>T			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	CCDS32986.1																																																																																				0.532	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		T	33113433	G	T	33113433	2	4	42	1	0	0	0	0	0	0	0	1	655	958	34	5		5	ANKRD27	19	33113433	Silent	SNP	G	TCGA-KN-8427-01A-11D-2310-10	15356594	33113433	26015550	116	3165											
CADM4	199731	ucsc.edu	37	chr19	44130965	44130965	+	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	ccttgcggtcccggtaccagCgcagggtggcagccggacgg	5	5	17	14	5	0	0	0	0	0	0	1	1	1	1	4	6	4	3	4	6	1	2			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:44130965C>T	ENST00000222374.2	-	4	518	c.470G>A	c.(469-471)cGc>cAc	p.R157H	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	157	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCGGTACCAGCGCAGGGTGGC	0.647																																						.											0													58	67	63					19																	44130965		2202	4298	6500	SO:0001583	missense	199731			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.470G>A	19.37:g.44130965C>T	ENSP00000222374:p.Arg157His		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820780	0.71028	.	.	ENSG00000105767	ENST00000222374	T	0.76186	-1.0	5.48	5.48	0.80851	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	M	0.67625	2.065	0.52501	D	0.999958	D	0.89917	1.0	D	0.85130	0.997	D	0.84620	0.0683	10	0.46703	T	0.11	.	16.8373	0.85960	0.0:1.0:0.0:0.0	.	157	Q8NFZ8	CADM4_HUMAN	H	157	ENSP00000222374:R157H	ENSP00000222374:R157H	R	-	2	0	CADM4	48822805	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	6.171000	0.71926	2.560000	0.86352	0.591000	0.81541	CGC		0.647	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		T	44130965	C	T	44130965	3	4	42	1	0	0	0	0	1	0	0	0	2569	768	27	1	720	1	CADM4	19	44130965	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	11017532	44130965	14998018	117	3166											
NAPA	8775	ucsc.edu	37	chr19	47991552	47991552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggtggggcttagcgcAggtcctcctcatcgccctgg	3	9	16	13	2	1	0	1	0	0	0	4	0	3	0	3	6	1	3	3	6	1	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:47991552A>G	ENST00000263354.3	-	11	1180	c.881T>C	c.(880-882)cTg>cCg	p.L294P	NAPA_ENST00000595227.1_Missense_Mutation_p.L255P|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	294					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GGCTTAGCGCAGGTCCTCCTC	0.622																																					Ovarian(185;1135 2042 27703 31345 42493)	.											0													115	94	101					19																	47991552		2203	4300	6503	SO:0001583	missense	8775			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"alpha SNAP"	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.881T>C	19.37:g.47991552A>G	ENSP00000263354:p.Leu294Pro		A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	37	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103146	0.56183	.	.	ENSG00000105402	ENST00000263354	T	0.49139	0.79	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	T	0.74711	0.3752	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81645	-0.0839	10	0.87932	D	0	-14.239	13.486	0.61366	1.0:0.0:0.0:0.0	.	294	P54920	SNAA_HUMAN	P	294	ENSP00000263354:L294P	ENSP00000263354:L294P	L	-	2	0	NAPA	52683364	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	8.750000	0.91623	2.015000	0.59207	0.533000	0.62120	CTG		0.622	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		G	47991552	A	G	47991552	3	3	42	1	0	0	0	0	1	0	0	0	10161	188	7	2	10	2	NAPA	19	47991552	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	3860587	47991552	11137431	118	3167											
ZNF667	63934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	56952705	56952705	+	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	cattcattacattcatagggTttctctccagtatgacttct	9	17	5	10	0	4	1	2	1	2	0	6	1	5	1	1	1	1	2	1	1	3	7			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:56952705T>C	ENST00000504904.3	-	7	2378	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	ZNF667_ENST00000342634.3_Silent_p.K681K|ZNF667_ENST00000292069.6_Silent_p.K553K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTCATAGGGTTTCTCTCCAG	0.408																																						.											0													102	95	97					19																	56952705		2203	4300	6503	SO:0001819	synonymous_variant	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1659A>G	19.37:g.56952705T>C			B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	CCDS12944.1																																																																																				0.408	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		C	56952705	T	C	56952705	2	2	42	1	0	0	0	0	0	0	0	1	18071	1722	60	2		2	ZNF667	19	56952705	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10	8961153	56952705	2176278	119	3168											
DDRGK1	65992	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	3172425	3172425	+	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	gcttacctgagtgcgtaggcCcacctgggaagccaggtctt	7	9	13	12	1	1	1	0	1	1	0	1	2	1	2	4	3	3	2	4	3	3	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:3172425C>A	ENST00000354488.3	-	7	772	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	DDRGK1_ENST00000380201.2_Missense_Mutation_p.G239C|DDRGK1_ENST00000496781.1_5'Flank	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	239	PCI.					endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GTGCGTAGGCCCACCTGGGAA	0.547																																						.											0													56	43	48					20																	3172425		2202	4300	6502	SO:0001583	missense	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.715G>T	20.37:g.3172425C>A	ENSP00000346483:p.Gly239Cys		A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	ENST00000354488.3	37	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136183	0.77662	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.52754	0.65	4.99	4.99	0.66335	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77376	-0.2611	10	0.72032	D	0.01	-14.2679	15.7693	0.78152	0.0:1.0:0.0:0.0	.	239	Q96HY6	DDRGK_HUMAN	C	239	ENSP00000346483:G239C	ENSP00000346483:G239C	G	-	1	0	DDRGK1	3120425	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.054000	0.64275	2.332000	0.79248	0.591000	0.81541	GGC		0.547	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		A	3172425	C	A	3172425	3	1	42	1	0	0	0	0	1	0	0	0	4338	623	22	5	241	5	DDRGK1	20	3172425	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		3172425	59853095	120	3169											
WISP2	8839	mdanderson.org	37	chr20	43348735	43348735	+	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	cccggggcaggacccggtggCcggggggccctgtgcctctg	2	5	19	15	3	1	0	0	0	1	0	1	1	1	1	5	8	1	1	5	8	0	0	rs2296530	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	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)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119					.											0								C		1905,2317		492,921,698	5	5	5		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839			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.258C>A	20.37:g.43348735C>A			B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																				0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348735	C	A	43348735	2	1	42	1	0	0	0	0	0	0	0	1	17370	726	26	5		5	WISP2	20	43348735	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10	40176310	43348735	19676785	121	3170											
DIDO1	11083	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	61525220	61525220	+	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	gcttggagcggtcctggggtCccggccggacactgtgacgg	4	7	18	12	4	0	1	0	1	0	0	2	3	2	3	3	7	1	1	3	7	0	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:61525220C>A	ENST00000266070.4	-	12	3224	c.2899G>T	c.(2899-2901)Gac>Tac	p.D967Y	DIDO1_ENST00000395340.1_Missense_Mutation_p.D967Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.D967Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.D967Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	967					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)					GTCCTGGGGTCCCGGCCGGAC	0.677																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											0													63	61	62					20																	61525220		2203	4300	6503	SO:0001583	missense	11083			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.2899G>T	20.37:g.61525220C>A	ENSP00000266070:p.Asp967Tyr		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	28.5	4.923538	0.92319	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.45668	1.91;1.91;0.89;0.89	6.17	6.17	0.99709	.	0.000000	0.44902	D	0.000420	T	0.67487	0.2898	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66705	-0.5856	10	0.87932	D	0	-55.9966	20.8794	0.99867	0.0:1.0:0.0:0.0	.	967;967	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	967	ENSP00000266070:D967Y;ENSP00000378752:D967Y;ENSP00000378749:D967Y;ENSP00000378744:D967Y	ENSP00000266070:D967Y	D	-	1	0	DIDO1	60995665	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	6.112000	0.71547	2.941000	0.99782	0.655000	0.94253	GAC		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61525220	C	A	61525220	3	1	42	1	0	0	0	0	1	0	0	0	4522	855	30	5	3872	5	DIDO1	20	61525220	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10	18176485	61525220	1500300	122	3171											
PFKL	5211	hgsc.bcm.edu	37	chr21	45744402	45744402	+	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	ccgcatcaaacagtctgcctCggggaccaagcgccgtgtgt	8	7	12	14	4	2	0	1	0	1	0	3	1	2	1	4	2	3	1	4	2	2	0			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr21:45744402C>T	ENST00000349048.4	+	17	1734	c.1679C>T	c.(1678-1680)tCg>tTg	p.S560L	PFKL_ENST00000403390.1_Missense_Mutation_p.S607L	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	560	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.S607L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGTCTGCCTCGGGGACCAAG	0.667																																						.											1	Substitution - Missense(1)	skin(1)											69	64	66					21																	45744402		2202	4300	6502	SO:0001583	missense	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1679C>T	21.37:g.45744402C>T	ENSP00000269848:p.Ser560Leu		Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282805	0.40394	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.77750	-1.12;-1.12	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.79805	2.47	0.46823	D	0.999219	B;D	0.60575	0.034;0.988	B;P	0.59171	0.023;0.853	D	0.85581	0.1240	10	0.48119	T	0.1	-12.4209	11.2359	0.48940	0.0:0.8136:0.1864:0.0	.	560;607	P17858;P17858-2	K6PL_HUMAN;.	L	560;353;607	ENSP00000269848:S560L;ENSP00000384038:S607L	ENSP00000269848:S560L	S	+	2	0	PFKL	44568830	0.753000	0.28349	0.971000	0.41717	0.412000	0.31113	2.861000	0.48380	1.852000	0.53769	0.467000	0.42956	TCG		0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			T	45744402	C	T	45744402	3	4	42	1	0	0	0	0	1	0	0	0	11764	893	31	1	1745	1	PFKL	21	45744402	Missense_Mutation	SNP	C	TCGA-KN-8427-01A-11D-2310-10		45744402	2385493	123	3172											
TTLL12	23170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	43565506	43565506	+	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	gtgtgcaggacaggaattacCtggacgtccgtccagggaaa	11	7	14	9	2	0	0	0	0	0	0	2	4	2	4	3	4	2	1	3	4	3	1			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr22:43565506C>T	ENST00000216129.6	-	12	1707	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	TTLL12_ENST00000494035.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	548	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)				CAGGAATTACCTGGACGTCCG	0.622																																						.											0													50	43	45					22																	43565506		2202	4299	6501	SO:0001630	splice_region_variant	23170			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.1644+1G>A	22.37:g.43565506C>T			Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	CCDS14047.1																																																																																				0.622	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140	Silent	T	43565506	C	T	43565506	5	4	42	1	0	0	0	0	0	0	1	0	16722	695	24	4	302	4	TTLL12	22	43565506	Splice_Site	SNP	C	TCGA-KN-8427-01A-11D-2310-10		43565506	7739060	124	3173											
PRR5	55615	mdanderson.org	37	chr22	45132785	45132785	+	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	gagggcgcggcggccggcggTaccagcatccgcaggcactc	6	3	17	15	6	0	0	0	0	0	0	2	1	1	0	3	6	2	4	3	6	1	1	rs6006865	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr22:45132785T>C	ENST00000336985.6	+	8	1102	c.825T>C	c.(823-825)ggT>ggC	p.G275G	PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000006251.7_Silent_p.G266G|PRR5_ENST00000403581.1_Silent_p.G298G|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	275					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CGGCCGGCGGTACCAGCATCC	0.697													C|||	362	0.0722843	0.084	0.1167	5008	,	,		12728	0.0704		0.0308	False		,,,				2504	0.0695					.											0								C	,,,,,,	319,4049		6,307,1871	17	21	20		798,540,540,894,798,825,	4.4	0	22	dbSNP_114	20	249,8303		5,239,4032	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	PRR5,PRR5-ARHGAP8	NM_001017528.2,NM_001017529.2,NM_001017530.1,NM_001198721.1,NM_015366.3,NM_181333.3,NM_181334.4	,,,,,,	11,546,5903	CC,CT,TT		2.9116,7.3031,4.3963	,,,,,,	266/380,180/294,180/294,298/412,266/380,275/389,	45132785	568,12352	2184	4276	6460	SO:0001819	synonymous_variant	55615			AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"protein observed with Rictor-1"	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.825T>C	22.37:g.45132785T>C			B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	CCDS14058.1	121	0.0554029304029304	32	0.06504065040650407	33	0.09116022099447514	37	0.06468531468531469	19	0.025065963060686015	C	2.996	-0.207184	0.06180	0.073031	0.029116	ENSG00000186654	ENST00000455389	.	.	.	5.41	4.39	0.52855	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.27874	P	0.9399136	.	.	.	.	.	.	T	0.34850	-0.9812	3	.	.	.	.	10.4463	0.44497	0.0:0.6788:0.2508:0.0704	rs6006865	.	.	.	A	235	.	.	V	+	2	0	PRR5	43511449	0.001000	0.12720	0.003000	0.11579	0.090000	0.18270	-0.032000	0.12266	0.672000	0.31204	-0.642000	0.03964	GTA		0.697	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		C	45132785	T	C	45132785	2	2	42	1	0	0	0	0	0	0	0	1	12600	1625	57	2		2	PRR5	22	45132785	Silent	SNP	T	TCGA-KN-8427-01A-11D-2310-10	1567279	45132785	6171781	125	3174											
XPNPEP2	7512	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	128886303	128886303	+	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	agctataccatgtatgggatCtatgaaatgatacccaaggt	14	11	9	7	0	1	2	0	2	1	0	1	3	1	3	2	2	3	2	2	2	7	5			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:128886303C>T	ENST00000371106.3	+	10	1191	c.999C>T	c.(997-999)atC>atT	p.I333I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	333						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						TGTATGGGATCTATGAAATGA	0.512																																						.											0													121	100	107					X																	128886303		2203	4299	6502	SO:0001819	synonymous_variant	7512			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.999C>T	X.37:g.128886303C>T			A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																				0.512	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		T	128886303	C	T	128886303	2	4	42	1	0	0	0	0	0	0	0	1	17440	903	32	4		4	XPNPEP2	23	128886303	Silent	SNP	C	TCGA-KN-8427-01A-11D-2310-10		128886303	26384257	126	3175											
GPR101	83550	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	136112626	136112626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacataggagaaaatgatgAtgaagatcactttagcagct	16	9	10	6	0	1	5	1	3	0	2	1	6	1	5	0	1	2	3	0	1	5	3			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:136112626A>G	ENST00000298110.1	-	1	1207	c.1208T>C	c.(1207-1209)aTc>aCc	p.I403T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	403						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GAAAATGATGATGAAGATCAC	0.552																																						.											0													118	108	112					X																	136112626		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1208T>C	X.37:g.136112626A>G	ENSP00000298110:p.Ile403Thr		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189604	0.38707	.	.	ENSG00000165370	ENST00000298110	T	0.39406	1.08	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.916112	0.08872	N	0.881448	T	0.33789	0.0875	L	0.34521	1.04	0.29580	N	0.849237	B	0.32010	0.351	B	0.30943	0.122	T	0.32375	-0.9909	10	0.56958	D	0.05	-10.9714	7.6287	0.28226	0.9061:0.0:0.0939:0.0	.	403	Q96P66	GP101_HUMAN	T	403	ENSP00000298110:I403T	ENSP00000298110:I403T	I	-	2	0	GPR101	135940292	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.618000	0.54188	1.950000	0.56595	0.430000	0.28490	ATC		0.552	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			G	136112626	A	G	136112626	3	3	42	1	0	0	0	0	1	0	0	0	6622	333	12	4	321	4	GPR101	23	136112626	Missense_Mutation	SNP	A	TCGA-KN-8427-01A-11D-2310-10	7226323	136112626	19157934	127	3176											
ABCD1	215	mdanderson.org	37	chrX	153006092	153006093	+	Nonsense_Mutation	DNP	CA	CA	TG																															cggactcagtggaggacatgCaaaggaagggctactcggag																								rs201878013|rs201114595		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:153006092_153006093CA>TG	ENST00000218104.3	+	7	2098_2099	c.1699_1700CA>TG	c.(1699-1701)CAa>TGa	p.Q567*	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	567	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)					GGAGGACATGCAAAGGAAGGGC	0.644																																						.											0			GRCh37	CM050985	ABCD1	M																																				SO:0001587	stop_gained	215			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	Exception_encountered	X.37:g.153006092_153006093delinsTG	ENSP00000218104:p.Gln567*		Q6GTZ2	Missense_Mutation	DNP	ENST00000218104.3	37	CCDS14728.1																																																																																				0.644	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		TG	153006093	CA	TG	153006092	4	4	42	1	0	0	0	0	0	1	0	0	60	711	25	4	1725	4	ABCD1	23	153006092	Nonsense_Mutation	DNP	CA	TCGA-KN-8427-01A-11D-2310-10	16893466	153006092	2264468	128	3177											
HES4	57801	broad.mit.edu;mdanderson.org	37	chr1	934923	934923	+	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	cacccgtcacctgcacgcgaCgcaggctccgcaggtgtctc	6	6	11	18	5	2	0	1	0	1	0	4	1	3	0	3	2	1	4	3	2	0	0	rs372013830		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:934923C>T	ENST00000304952.6	-	3	412	c.275G>A	c.(274-276)cGt>cAt	p.R92H	HES4_ENST00000484667.2_Missense_Mutation_p.R60H|HES4_ENST00000428771.2_Missense_Mutation_p.R118H|RP11-54O7.17_ENST00000606034.1_lincRNA			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	92					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	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;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCACGCGACGCAGGCTCCG	0.736																																						.											0								C	HIS/ARG,HIS/ARG	1,4227		0,1,2113	9	11	11		353,275	-1.2	0.1	1		11	0,8430		0,0,4215	no	missense,missense	HES4	NM_001142467.1,NM_021170.3	29,29	0,1,6328	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging,probably-damaging	118/248,92/222	934923	1,12657	2114	4215	6329	SO:0001583	missense	57801			BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"Basic helix-loop-helix proteins"	24149	protein-coding gene	gene with protein product		608060	"hairy and enhancer of split 4 (Drosophila)"			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.275G>A	1.37:g.934923C>T	ENSP00000304595:p.Arg92His		Q5SVA5	Missense_Mutation	SNP	ENST00000304952.6	37	CCDS5.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811275	0.50527	2.37E-4	0.0	ENSG00000188290	ENST00000428771;ENST00000304952;ENST00000484667	D;D;T	0.97642	-4.47;-4.47;1.49	3.29	-1.18	0.09617	Helix-loop-helix DNA-binding (4);	0.530450	0.14196	U	0.335030	D	0.92047	0.7480	N	0.25485	0.75	0.33046	D	0.532084	B;P	0.34837	0.226;0.472	B;B	0.34824	0.058;0.19	D	0.88177	0.2868	10	0.48119	T	0.1	.	8.16	0.31194	0.0:0.2009:0.0:0.7991	.	118;92	E9PB28;Q9HCC6	.;HES4_HUMAN	H	118;92;60	ENSP00000393198:R118H;ENSP00000304595:R92H;ENSP00000425085:R60H	ENSP00000304595:R92H	R	-	2	0	HES4	924786	1.000000	0.71417	0.051000	0.19133	0.875000	0.50365	1.671000	0.37513	-0.096000	0.12329	0.407000	0.27541	CGT		0.736	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097944.1	NM_021170		T	934923	C	T	934923	3	4	43	1	0	0	0	0	1	0	0	0	7068	536	19	1	398	1	HES4	1	934923	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		934923	248315698	1	3178											
AGRN	375790	broad.mit.edu	37	chr1	978746	978746	+	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	tacgatcctgtgtgcggcagCgacggcgtcacatacggcag	8	7	14	12	6	1	0	1	0	0	0	2	2	2	0	1	3	4	2	1	3	2	2	rs527601442		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:978746C>T	ENST00000379370.2	+	8	1562	c.1512C>T	c.(1510-1512)agC>agT	p.S504S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	504	Kazal-like 5. {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)		TGTGCGGCAGCGACGGCGTCA	0.662													C|||	1	0.000199681	0	0	5008	,	,		14876	0		0	False		,,,				2504	0.001					.											0													62	51	54					1																	978746		2198	4296	6494	SO:0001819	synonymous_variant	375790			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.1512C>T	1.37:g.978746C>T			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	CCDS30551.1																																																																																				0.662	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	978746	C	T	978746	2	4	43	1	0	0	0	0	0	0	0	1	397	767	27	1		1	AGRN	1	978746	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	43823	978746	248271875	2	3179											
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	985016	985016	+	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	tgctggacgtcaacaaccagCgcctggagcttggcattggg	8	8	14	11	2	1	0	1	0	0	0	1	2	1	2	2	4	5	3	2	4	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:985016C>T	ENST00000379370.2	+	26	4635	c.4585C>T	c.(4585-4587)Cgc>Tgc	p.R1529C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1529	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)		CAACAACCAGCGCCTGGAGCT	0.731																																						.											0													12	16	14					1																	985016		2180	4279	6459	SO:0001583	missense	375790			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.4585C>T	1.37:g.985016C>T	ENSP00000368678:p.Arg1529Cys		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	c	11.61	1.689710	0.29962	.	.	ENSG00000188157	ENST00000379370	T	0.75938	-0.98	4.34	2.3	0.28687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, subdomain 1 (1);	1.296030	0.05695	U	0.593034	T	0.68320	0.2988	L	0.42245	1.32	0.09310	N	1	P	0.43431	0.807	B	0.41088	0.347	T	0.60910	-0.7169	10	0.51188	T	0.08	-6.052	8.2735	0.31857	0.2411:0.63:0.1289:0.0	.	1529	O00468	AGRIN_HUMAN	C	1529	ENSP00000368678:R1529C	ENSP00000368678:R1529C	R	+	1	0	AGRN	974879	0.006000	0.16342	0.917000	0.36280	0.023000	0.10783	0.566000	0.23593	2.145000	0.66743	0.298000	0.19748	CGC		0.731	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	985016	C	T	985016	3	4	43	1	0	0	0	0	1	0	0	0	397	768	27	1	4687	1	AGRN	1	985016	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6270	985016	248265605	3	3180											
ACAP3	116983	mdanderson.org	37	chr1	1229953	1229953	+	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	acgtccgccaggccccaggcCtcggcctcagtgtccccgtc	4	6	11	20	4	1	0	1	0	0	0	5	0	3	0	8	3	0	0	8	3	0	0	rs574689077		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:1229953C>T	ENST00000354700.5	-	21	2170	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Silent_p.E581E	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	656					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						GGCCCCAGGCCTCGGCCTCAG	0.761													C|||	1	0.000199681	0	0.0014	5008	,	,		10451	0		0	False		,,,				2504	0					.											0																																										SO:0001819	synonymous_variant	116983			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.1968G>A	1.37:g.1229953C>T			B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	CCDS19.2																																																																																				0.761	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		T	1229953	C	T	1229953	2	4	43	1	0	0	0	0	0	0	0	1	120	680	24	4		4	ACAP3	1	1229953	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	244937	1229953	248020668	4	3181											
GABRD	2563	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	1956478	1956478	+	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	ccggctacgcccgcaacttcCggcctggcatcggaggtgag	6	6	14	15	5	0	1	0	1	0	0	2	2	1	2	4	5	2	3	4	5	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:1956478C>T	ENST00000378585.4	+	2	249	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	56					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)	CCGCAACTTCCGGCCTGGCAT	0.682																																						.											0													29	31	30					1																	1956478		2203	4299	6502	SO:0001583	missense	2563			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.166C>T	1.37:g.1956478C>T	ENSP00000367848:p.Arg56Trp		Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997979	0.54147	.	.	ENSG00000187730	ENST00000378585	D	0.83591	-1.74	4.84	3.8	0.43715	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000002	D	0.89993	0.6876	M	0.82630	2.6	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.90344	0.4361	10	0.87932	D	0	-17.3036	9.5764	0.39461	0.3134:0.6866:0.0:0.0	.	56	O14764	GBRD_HUMAN	W	56	ENSP00000367848:R56W	ENSP00000367848:R56W	R	+	1	2	GABRD	1946338	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	1.696000	0.37773	2.425000	0.82216	0.555000	0.69702	CGG		0.682	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		T	1956478	C	T	1956478	3	4	43	1	0	0	0	0	1	0	0	0	6169	643	23	1	172	1	GABRD	1	1956478	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	726525	1956478	247294143	5	3182											
WDR8	49856	broad.mit.edu	37	chr1	3547644	3547644	+	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	aggagggccatcgagtctccGcttaaatgccagcacagaga	12	6	12	11	2	1	1	0	0	1	1	3	4	1	2	3	2	2	2	3	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3547644G>A	ENST00000270708.7	-	12	1351	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	WRAP73_ENST00000378322.3_3'UTR	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	426						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TCGAGTCTCCGCTTAAATGCC	0.602																																						.											0													65	63	64					1																	3547644		2203	4300	6503	SO:0001819	synonymous_variant	49856			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1278C>T	1.37:g.3547644G>A			Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	CCDS48.1																																																																																				0.602	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			A	3547644	G	A	3547644	2	1	43	1	0	0	0	0	0	0	0	1	17326	1078	38	1		1	WDR8	1	3547644	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1591166	3547644	245702977	6	3183											
TP73	7161	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	3599709	3599709	+	Missense_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	gaacggattccagcatggacGtcttccacctggagggcatg	9	8	13	11	2	1	0	0	0	1	0	3	4	3	3	3	4	2	2	3	4	1	2	rs146218192		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3599709G>A	ENST00000378295.4	+	3	306	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	TP73_ENST00000604074.1_Missense_Mutation_p.V51I|TP73_ENST00000354437.4_Missense_Mutation_p.V51I|TP73_ENST00000604479.1_Missense_Mutation_p.V51I|TP73_ENST00000603362.1_Missense_Mutation_p.V51I|TP73_ENST00000357733.3_Missense_Mutation_p.V51I|TP73_ENST00000346387.4_Missense_Mutation_p.V51I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	51	Asp/Glu-rich (acidic).				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)		CAGCATGGACGTCTTCCACCT	0.597													G|||	1	0.000199681	0	0	5008	,	,		19210	0		0.001	False		,,,				2504	0					.											0								G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	119	114	115		151,151,151,151,151,151	4.6	1	1	dbSNP_134	115	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	TP73	NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_005427.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	51/500,51/476,51/404,51/556,51/541,51/637	3599709	1,13005	2203	4300	6503	SO:0001583	missense	7161			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.151G>A	1.37:g.3599709G>A	ENSP00000367545:p.Val51Ile		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875023	0.33162	2.27E-4	0.0	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99422	-5.76;-5.88;-5.62;-5.72	4.6	4.6	0.57074	.	0.000000	0.64402	U	0.000002	D	0.99171	0.9713	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.72982	0.848;0.979	D	0.99379	1.0922	10	0.36615	T	0.2	-38.0352	16.7783	0.85557	0.0:0.0:1.0:0.0	.	51;51	O15350-2;O15350	.;P73_HUMAN	I	51	ENSP00000367545:V51I;ENSP00000346423:V51I;ENSP00000350366:V51I;ENSP00000340740:V51I	ENSP00000340740:V51I	V	+	1	0	TP73	3589569	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.352000	0.59404	2.250000	0.74265	0.563000	0.77884	GTC		0.597	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		A	3599709	G	A	3599709	3	1	43	1	0	0	0	0	1	0	0	0	16390	1145	40	1	157	1	TP73	1	3599709	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	52065	3599709	245650912	7	3184											
C1orf174	339448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	3807424	3807424	+	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	gccccctgctgcacagaaacGccagcctcgctgcctggaag	8	5	11	17	2	0	1	0	0	0	1	1	2	0	2	5	1	5	3	5	1	2	0	rs368113639		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3807424G>A	ENST00000361605.3	-	3	425	c.327C>T	c.(325-327)ggC>ggT	p.G109G	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	109						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACAGAAACGCCAGCCTCGC	0.542																																						.											0								G		0,4406		0,0,2203	58	56	57		327	-11.1	0	1		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf174	NM_207356.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		109/244	3807424	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339448			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.327C>T	1.37:g.3807424G>A			A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	CCDS53.1																																																																																				0.542	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		A	3807424	G	A	3807424	2	1	43	1	0	0	0	0	0	0	0	1	2015	1074	38	1		1	C1orf174	1	3807424	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	207715	3807424	245443197	8	3185											
NPHP4	261734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	5951002	5951002	+	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	gtcaatctgcagggtctgcaCggccaggtagcgggcaaagc	9	6	15	11	2	3	0	1	0	2	0	3	0	3	0	1	4	4	4	1	4	3	1	rs199712626		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:5951002C>T	ENST00000378156.4	-	17	2495	c.2230G>A	c.(2230-2232)Gtg>Atg	p.V744M	NPHP4_ENST00000478423.2_5'UTR|AL356261.1_ENST00000585151.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	744					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)		AGGGTCTGCACGGCCAGGTAG	0.622																																						.											0								C	MET/VAL	2,4004		0,2,2001	26	29	28		2230	-5.9	0	1		28	2,8314		0,2,4156	yes	missense	NPHP4	NM_015102.3	21	0,4,6157	TT,TC,CC		0.0241,0.0499,0.0325	benign	744/1427	5951002	4,12318	2003	4158	6161	SO:0001583	missense	261734			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.2230G>A	1.37:g.5951002C>T	ENSP00000367398:p.Val744Met		Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	5.218	0.225771	0.09916	4.99E-4	2.41E-4	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.87029	-2.2	5.61	-5.93	0.02254	.	1.385230	0.04696	N	0.415002	T	0.73401	0.3582	L	0.27053	0.805	0.09310	N	1	B	0.18610	0.029	B	0.15052	0.012	T	0.56697	-0.7936	10	0.46703	T	0.11	.	0.4116	0.00442	0.2859:0.1877:0.2805:0.246	.	744	O75161	NPHP4_HUMAN	M	744;147	ENSP00000367398:V744M	ENSP00000367398:V744M	V	-	1	0	NPHP4	5873589	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.832000	0.01696	-0.814000	0.04352	-2.328000	0.00250	GTG		0.622	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			T	5951002	C	T	5951002	3	4	43	1	0	0	0	0	1	0	0	0	10581	536	19	1	2106	1	NPHP4	1	5951002	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2143578	5951002	243299619	9	3186											
ZBTB48	3104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	6646763	6646763	+	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	tcacactgccaggtcttcacGtgctctgtgtgccaggagac	7	10	11	13	1	4	1	2	0	2	1	4	2	4	1	2	2	3	1	2	2	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:6646763G>A	ENST00000377674.4	+	5	1211	c.1053G>A	c.(1051-1053)acG>acA	p.T351T		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	351				FT -> LP (in Ref. 1; AAA65124). {ECO:0000305}.	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)		AGGTCTTCACGTGCTCTGTGT	0.637																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	.											0													79	57	64					1																	6646763		2203	4299	6502	SO:0001819	synonymous_variant	3104			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.1053G>A	1.37:g.6646763G>A			Q5SY19	Silent	SNP	ENST00000377674.4	37	CCDS84.1																																																																																				0.637	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		A	6646763	G	A	6646763	2	1	43	1	0	0	0	0	0	0	0	1	17546	1132	40	1		1	ZBTB48	1	6646763	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	695761	6646763	242603858	10	3187											
SLC45A1	50651	broad.mit.edu	37	chr1	8385423	8385423	+	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	cctcaaggtttggaaggagaCgccctttcattcttgtcctg	7	13	10	11	1	3	1	2	0	1	1	4	3	4	2	3	3	0	1	3	3	2	4	rs200531790	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:8385423C>T	ENST00000471889.1	+	3	848	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R189C|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R155C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	155					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)		TGGAAGGAGACGCCCTTTCAT	0.483													C|||	2	0.000399361	0.0015	0	5008	,	,		16918	0		0	False		,,,				2504	0					.											0													182	160	167					1																	8385423		2203	4300	6503	SO:0001583	missense	50651			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.463C>T	1.37:g.8385423C>T	ENSP00000418096:p.Arg155Cys		Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.52	3.842456	0.71488	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.96041	-3.89;-3.89;-3.89	5.55	4.58	0.56647	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98003	1.0361	10	0.87932	D	0	-37.0141	11.4331	0.50052	0.3221:0.6779:0.0:0.0	.	155	Q9Y2W3	S45A1_HUMAN	C	155;189;155	ENSP00000418096:R155C;ENSP00000366699:R189C;ENSP00000289877:R155C	ENSP00000289877:R155C	R	+	1	0	SLC45A1	8308010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	2.594000	0.87642	0.650000	0.86243	CGC		0.483	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			T	8385423	C	T	8385423	3	4	43	1	0	0	0	0	1	0	0	0	14640	536	19	1	469	1	SLC45A1	1	8385423	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1738660	8385423	240865198	11	3188											
RERE	473	mdanderson.org	37	chr1	8421203	8421203	+	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	acaggcgctgtgggagcctgTggctggttaggggcctggga	5	8	20	8	1	0	0	0	0	0	0	0	2	0	2	2	7	1	3	2	7	1	1	rs13596	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:8421203T>C	ENST00000337907.3	-	19	2998	c.2364A>G	c.(2362-2364)ccA>ccG	p.P788P	RERE_ENST00000377464.1_Silent_p.P520P|RERE_ENST00000476556.1_Silent_p.P234P|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.P788P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	788	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)		TGGGAGCCTGTGGCTGGTTAG	0.731													t|||	4006	0.79992	0.8411	0.7925	5008	,	,		12992	0.9206		0.6819	False		,,,				2504	0.7464					.											0								T	,,	3390,752		1409,572,90	6	7	7		2364,702,2364	-10	0	1	dbSNP_52	7	5605,2589		1942,1721,434	no	coding-synonymous,coding-synonymous,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	3351,2293,524	CC,CT,TT		31.5963,18.1555,27.0833	,,	788/1567,234/1013,788/1567	8421203	8995,3341	2071	4097	6168	SO:0001819	synonymous_variant	473			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.2364A>G	1.37:g.8421203T>C			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.731	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			C	8421203	T	C	8421203	2	2	43	1	0	0	0	0	0	0	0	1	13231	1683	59	2		2	RERE	1	8421203	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	35780	8421203	240829418	12	3189											
UBE4B	10277	broad.mit.edu;bcgsc.ca	37	chr1	10155570	10155570	+	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	agtcagttctctcagcagctCgccctctaatagccttgaaa	10	11	7	13	1	4	1	2	1	2	0	6	1	4	1	2	0	3	3	2	0	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10155570C>T	ENST00000253251.8	+	3	1102	c.263C>T	c.(262-264)tCg>tTg	p.S88L	UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.S88L					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)		CTCAGCAGCTCGCCCTCTAAT	0.468																																						.											0													154	124	134					1																	10155570		2203	4300	6503	SO:0001583	missense	10277			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.263C>T	1.37:g.10155570C>T	ENSP00000253251:p.Ser88Leu			Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	36	5.797910	0.96952	.	.	ENSG00000130939	ENST00000253251;ENST00000343090	T;T	0.57595	0.56;0.39	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	L	0.43923	1.385	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.947	T	0.63152	-0.6701	10	0.39692	T	0.17	-13.1798	19.3992	0.94621	0.0:1.0:0.0:0.0	.	88;88	O95155;O95155-2	UBE4B_HUMAN;.	L	88	ENSP00000253251:S88L;ENSP00000343001:S88L	ENSP00000253251:S88L	S	+	2	0	UBE4B	10078157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.659000	0.90383	0.650000	0.86243	TCG		0.468	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		T	10155570	C	T	10155570	3	4	43	1	0	0	0	0	1	0	0	0	16880	893	31	1	273	1	UBE4B	1	10155570	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1734367	10155570	239095051	13	3190											
CORT	1325	hgsc.bcm.edu;ucsc.edu	37	chr1	10510334	10510334	+	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	ctctccggggccacggccacCgctgccctgcccctggaggg	3	5	14	19	3	1	0	0	0	1	0	2	1	1	1	7	5	2	1	7	5	0	0	rs182159138	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10510334C>T	ENST00000377049.3	+	1	559	c.54C>T	c.(52-54)acC>acT	p.T18T	APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|CORT_ENST00000320498.4_Silent_p.T68T|APITD1_ENST00000602787.1_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	18					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	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;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CCACGGCCACCGCTGCCCTGC	0.677													C|||	2	0.000399361	0	0.0029	5008	,	,		15737	0		0	False		,,,				2504	0					.											0								C	,,	0,4404		0,0,2202	25	26	26		54,,	-7.2	0	1		26	3,8593		0,3,4295	no	coding-synonymous,intron,intron	CORT,APITD1-CORT	NM_001302.4,NM_198544.3,NM_199006.2	,,	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	,,	18/106,,	10510334	3,12997	2202	4298	6500	SO:0001819	synonymous_variant	1325			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"Endogenous ligands"	2257	protein-coding gene	gene with protein product	"prepro-cortistatin"	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.54C>T	1.37:g.10510334C>T			Q5T6G0|Q6UX11	Silent	SNP	ENST00000377049.3	37	CCDS117.2																																																																																				0.677	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		T	10510334	C	T	10510334	2	4	43	1	0	0	0	0	0	0	0	1	3760	639	23	1		1	CORT	1	10510334	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	354764	10510334	238740287	14	3191											
CASZ1	54897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	10713846	10713846	+	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	ctgggcccagcctcggtggcGgcagtggcggcagccaggga	5	4	19	13	3	0	0	0	0	0	0	1	1	0	1	3	7	2	2	3	7	0	0	rs372443290		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10713846G>A	ENST00000377022.3	-	11	2585	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.A756A	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	756					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)		CCTCGGTGGCGGCAGTGGCGG	0.682																																						.											0													32	42	39					1																	10713846		2203	4298	6501	SO:0001819	synonymous_variant	54897			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.2268C>T	1.37:g.10713846G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																				0.682	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		A	10713846	G	A	10713846	2	1	43	1	0	0	0	0	0	0	0	1	2685	1103	39	1		1	CASZ1	1	10713846	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	203512	10713846	238536775	15	3192											
PRDM2	7799	broad.mit.edu;mdanderson.org	37	chr1	14107224	14107224	+	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	tcccctccaccctgtcccccGgtattaactgttgccactcc	5	11	5	20	1	0	0	0	0	0	0	4	0	4	0	8	1	2	2	8	1	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:14107224G>A	ENST00000235372.7	+	8	3790	c.2934G>A	c.(2932-2934)ccG>ccA	p.P978P	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.P777P|PRDM2_ENST00000413440.1_Silent_p.P777P|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.P978P	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	978	Pro-rich.				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)		CCTGTCCCCCGGTATTAACTG	0.612																																						.											0													126	120	122					1																	14107224		2203	4300	6503	SO:0001819	synonymous_variant	7799			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.2934G>A	1.37:g.14107224G>A			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.612	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		A	14107224	G	A	14107224	2	1	43	1	0	0	0	0	0	0	0	1	12458	1103	39	1		1	PRDM2	1	14107224	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3393378	14107224	235143397	16	3193											
PLEKHM2	23207	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	16053893	16053893	+	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	tcctttcggaccggctctccCggggatgccccggagaggcc	4	7	14	16	4	1	1	0	0	1	1	4	4	2	3	6	6	1	1	6	6	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:16053893C>T	ENST00000375799.3	+	9	1553	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.P422P	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	442					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCGGCTCTCCCGGGGATGCCC	0.627																																						.											0													7	8	8					1																	16053893		1811	4039	5850	SO:0001819	synonymous_variant	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1326C>T	1.37:g.16053893C>T			O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	CCDS44063.1																																																																																				0.627	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		T	16053893	C	T	16053893	2	4	43	1	0	0	0	0	0	0	0	1	12081	639	23	1		1	PLEKHM2	1	16053893	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1946669	16053893	233196728	17	3194											
CROCC	9696	mdanderson.org	37	chr1	17270751	17270751	+	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	gacgcagtgcaggatggcgcGcgggtgcgccgggagcttga	6	5	20	10	6	0	1	0	1	0	0	0	4	0	3	1	4	3	3	1	4	0	1	rs12025984	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:17270751G>A	ENST00000375541.5	+	14	2034	c.1965G>A	c.(1963-1965)gcG>gcA	p.A655A	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)		AGGATGGCGCGCGGGTGCGCC	0.711													g|||	1190	0.23762	0.0182	0.3242	5008	,	,		21546	0.4643		0.2495	False		,,,				2504	0.227					.											0													8	6	7					1																	17270751		2084	4087	6171	SO:0001819	synonymous_variant	9696			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.1965G>A	1.37:g.17270751G>A				Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																				0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		A	17270751	G	A	17270751	2	1	43	1	0	0	0	0	0	0	0	1	3893	1074	38	1		1	CROCC	1	17270751	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1216858	17270751	231979870	18	3195											
PADI4	23569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	17664602	17664602	+	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	actgtgacagagacaatctcGaatcttctgccatggactgc	11	10	9	11	1	3	2	0	1	3	1	4	5	3	3	1	1	2	0	1	1	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	160					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)	AGACAATCTCGAATCTTCTGC	0.527																																						.											0													152	128	136					1																	17664602		2203	4300	6503	SO:0001583	missense	23569			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.478G>A	1.37:g.17664602G>A	ENSP00000364597:p.Glu160Lys		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	7.390	0.630670	0.14322	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	5.15	-10.3	0.00346	Protein-arginine deiminase (PAD), central domain (2);	1.431090	0.04168	N	0.324253	T	0.02455	0.0075	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.26538	-1.0100	10	0.09338	T	0.73	0.0019	3.264	0.06859	0.3132:0.3875:0.204:0.0953	.	160;160	A8K392;Q9UM07	.;PADI4_HUMAN	K	160	ENSP00000364597:E160K	ENSP00000364597:E160K	E	+	1	0	PADI4	17537189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.930000	0.01557	-2.431000	0.00556	-2.173000	0.00322	GAA		0.527	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		A	17664602	G	A	17664602	3	1	43	1	0	0	0	0	1	0	0	0	11380	1059	37	1	496	1	PADI4	1	17664602	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	393851	17664602	231586019	19	3196											
HTR6	3362	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	20005813	20005813	+	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	aatttcttcaacatcgacccCgcggagcccgagctgcggcc	8	7	10	16	5	2	0	1	0	1	0	3	3	2	1	4	2	4	1	4	2	2	2	rs201218739		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:20005813C>T	ENST00000289753.1	+	3	1742	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	TMCO4_ENST00000489814.1_5'Flank	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	425					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)	ACATCGACCCCGCGGAGCCCG	0.692																																					Esophageal Squamous(168;1879 2619 6848 21062)	.											0													9	10	9					1																	20005813		1870	3762	5632	SO:0001819	synonymous_variant	3362			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.1275C>T	1.37:g.20005813C>T			Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	CCDS197.1																																																																																				0.692	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		T	20005813	C	T	20005813	2	4	43	1	0	0	0	0	0	0	0	1	7451	639	23	1		1	HTR6	1	20005813	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2341211	20005813	229244808	20	3197											
TMCO4	255104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	20067419	20067419	+	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	tgtgggccagggcagcccacGgggcactgaaggtgcctggg	6	5	19	11	1	0	1	0	1	0	0	0	1	0	1	3	6	2	2	3	6	1	0	rs371982006		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:20067419G>A	ENST00000294543.6	-	11	1134	c.893C>T	c.(892-894)cCg>cTg	p.P298L	TMCO4_ENST00000489814.1_5'Flank|TMCO4_ENST00000375127.1_Missense_Mutation_p.P298L|TMCO4_ENST00000375122.2_Missense_Mutation_p.P258L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	298						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGCAGCCCACGGGGCACTGAA	0.617																																						.											0								G	LEU/PRO	0,4406		0,0,2203	39	35	36		893	5.3	1	1		36	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	298/635	20067419	1,13005	2203	4300	6503	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.893C>T	1.37:g.20067419G>A	ENSP00000294543:p.Pro298Leu		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100784	0.76983	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.46063	0.88;0.88;0.88	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.69873	-0.5027	10	0.72032	D	0.01	-13.9474	16.5542	0.84481	0.0:0.0:1.0:0.0	.	298	Q5TGY1	TMCO4_HUMAN	L	298;298;258	ENSP00000294543:P298L;ENSP00000364269:P298L;ENSP00000364264:P258L	ENSP00000294543:P298L	P	-	2	0	TMCO4	19940006	1.000000	0.71417	0.954000	0.39281	0.583000	0.36354	9.114000	0.94329	2.506000	0.84524	0.655000	0.94253	CCG		0.617	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		A	20067419	G	A	20067419	3	1	43	1	0	0	0	0	1	0	0	0	15995	1116	39	1	1035	1	TMCO4	1	20067419	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	61606	20067419	229183202	21	3198											
ALPL	249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	21887145	21887145	+	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	agaaagaccccaagtactggCgagaccaagcgcaagagaca	17	2	11	11	2	0	4	0	0	0	4	0	6	0	4	3	1	2	2	3	1	5	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:21887145C>T	ENST00000374840.3	+	3	338	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ALPL_ENST00000425315.2_Nonsense_Mutation_p.R30*|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000540617.1_5'UTR|ALPL_ENST00000374832.1_Nonsense_Mutation_p.R30*|ALPL_ENST00000539907.1_5'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	30					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CAAGTACTGGCGAGACCAAGC	0.517																																						.											0													92	90	91					1																	21887145		2203	4300	6503	SO:0001587	stop_gained	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.88C>T	1.37:g.21887145C>T	ENSP00000363973:p.Arg30*		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Nonsense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522219	0.85600	.	.	ENSG00000162551	ENST00000374840;ENST00000374832;ENST00000425315	.	.	.	5.71	0.99	0.19807	.	0.095596	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-7.7262	14.81	0.69989	0.4959:0.504:0.0:0.0	.	.	.	.	X	30	.	ENSP00000363965:R30X	R	+	1	2	ALPL	21759732	0.969000	0.33509	0.933000	0.37362	0.228000	0.25075	0.388000	0.20735	0.243000	0.21327	-0.314000	0.08810	CGA		0.517	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		T	21887145	C	T	21887145	4	4	43	1	0	0	0	0	0	1	0	0	547	760	27	1	94	1	ALPL	1	21887145	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1819726	21887145	227363476	22	3199											
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr1	22902937	22902937	+	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	aacctctactacctggagtcGgaccgcgacctgggggccag	8	6	13	14	3	1	0	0	0	1	0	2	3	1	2	5	4	3	0	5	4	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:22902937G>A	ENST00000166244.3	+	3	459	c.387G>A	c.(385-387)tcG>tcA	p.S129S	EPHA8_ENST00000538803.1_Silent_p.S129S|EPHA8_ENST00000374644.4_Silent_p.S129S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	129	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S129S(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTGGAGTCGGACCGCGACC	0.592																																						.											2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)											65	61	63					1																	22902937		2203	4300	6503	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.387G>A	1.37:g.22902937G>A			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.592	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22902937	G	A	22902937	2	1	43	1	0	0	0	0	0	0	0	1	5173	1103	39	1		1	EPHA8	1	22902937	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1015792	22902937	226347684	23	3200											
SEPN1	57190	broad.mit.edu;bcgsc.ca	37	chr1	26140634	26140634	+	Missense_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	tggagaagtacagcttccccGtggagatgatgatctgcctg	9	10	13	9	1	1	4	0	2	1	2	2	6	2	4	3	2	3	2	3	2	2	2	rs138259627		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:26140634G>A	ENST00000527604.1	+	2	88	c.88G>A	c.(88-90)Gtg>Atg	p.V30M	SEPN1_ENST00000374315.1_Missense_Mutation_p.V489M|SEPN1_ENST00000494537.1_3'UTR|RP1-317E23.3_ENST00000442055.1_RNA|SEPN1_ENST00000354177.4_Missense_Mutation_p.V489M|SEPN1_ENST00000361547.2_Missense_Mutation_p.V523M																							CAGCTTCCCCGTGGAGATGAT	0.647													G|||	1	0.000199681	0	0	5008	,	,		18421	0.001		0	False		,,,				2504	0					.											0													75	93	87					1																	26140634		2114	4213	6327	SO:0001583	missense	57190																														ENST00000527604.1:c.88G>A	1.37:g.26140634G>A	ENSP00000457066:p.Val30Met			Missense_Mutation	SNP	ENST00000527604.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.7	4.941056	0.92526	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.92699	-3.09;-3.07;-3.06	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95888	0.8904	10	0.87932	D	0	-32.1731	18.5754	0.91153	0.0:0.0:1.0:0.0	.	489;523	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	M	523;489;489	ENSP00000355141:V523M;ENSP00000346109:V489M;ENSP00000363434:V489M	ENSP00000432311:V30M	V	+	1	0	SEPN1	26013221	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	9.657000	0.98554	2.630000	0.89119	0.561000	0.74099	GTG		0.647	RP1-317E23.6-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000393345.1			A	26140634	G	A	26140634	3	1	43	1	0	0	0	0	1	0	0	0	14056	1145	40	1	1613	1	SEPN1	1	26140634	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3237697	26140634	223109987	24	3201											
SERINC2	347735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	31899552	31899552	+	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	gctgtcgatcgcggccgtggCgctgatgttcatgtactaca	6	11	13	11	5	1	1	1	1	0	0	3	2	1	1	1	2	2	4	1	2	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:31899552C>T	ENST00000373709.3	+	6	812	c.662C>T	c.(661-663)gCg>gTg	p.A221V	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.A225V|SERINC2_ENST00000373710.1_Missense_Mutation_p.A230V|SERINC2_ENST00000536384.1_Missense_Mutation_p.A225V	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	221					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)		GCGGCCGTGGCGCTGATGTTC	0.597																																						.											0													209	183	192					1																	31899552		2203	4300	6503	SO:0001583	missense	347735			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.662C>T	1.37:g.31899552C>T	ENSP00000362813:p.Ala221Val		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.741064	0.00675	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	4.99	-0.359	0.12571	.	0.733403	0.13725	N	0.367136	T	0.04182	0.0116	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.14012	0.0;0.004;0.009	B;B;B	0.09377	0.0;0.004;0.003	T	0.43376	-0.9395	10	0.02654	T	1	-1.0421	11.9824	0.53127	0.0:0.5352:0.0:0.4648	.	225;230;221	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	V	230;225;221;225	ENSP00000362814:A230V;ENSP00000444307:A225V;ENSP00000362813:A221V;ENSP00000439048:A225V	ENSP00000362813:A221V	A	+	2	0	SERINC2	31672139	0.009000	0.17119	0.000000	0.03702	0.247000	0.25773	0.477000	0.22196	-0.468000	0.06922	-1.267000	0.01435	GCG		0.597	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		T	31899552	C	T	31899552	3	4	43	1	0	0	0	0	1	0	0	0	14080	768	27	1	684	1	SERINC2	1	31899552	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5758918	31899552	217351069	25	3202											
BAI2	576	broad.mit.edu	37	chr1	32222290	32222290	+	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	gtcctgcagcgagaaggcccCgtagagcacacccgaggcca	10	3	13	15	3	0	2	0	0	0	2	1	4	1	2	5	2	3	3	5	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:32222290C>T	ENST00000373658.3	-	4	489	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	BAI2_ENST00000398542.1_Missense_Mutation_p.G38R|BAI2_ENST00000398556.3_Missense_Mutation_p.G53R|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Missense_Mutation_p.G38R|BAI2_ENST00000257070.4_Missense_Mutation_p.G50R|BAI2_ENST00000373655.2_Missense_Mutation_p.G50R|BAI2_ENST00000398538.1_Missense_Mutation_p.G38R|BAI2_ENST00000527361.1_Missense_Mutation_p.G50R	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	50					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)		GAGAAGGCCCCGTAGAGCACA	0.652																																						.											0													43	44	43					1																	32222290		2201	4298	6499	SO:0001583	missense	576			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.148G>A	1.37:g.32222290C>T	ENSP00000362762:p.Gly50Arg		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873768	0.91664	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.80033	-0.9;-0.65;-1.32;-1.33;-0.43;-1.32;-1.32;-1.19;-0.93;-0.79	5.22	5.22	0.72569	.	0.000000	0.43747	D	0.000525	D	0.88243	0.6384	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.996;0.958;0.999;0.994	D	0.89093	0.3484	10	0.87932	D	0	.	17.9359	0.89012	0.0:1.0:0.0:0.0	.	38;50;38;38;50;50	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	R	53;38;50;50;38;50;50;38;43;84	ENSP00000381564:G53R;ENSP00000381555:G38R;ENSP00000362762:G50R;ENSP00000362759:G50R;ENSP00000381550:G38R;ENSP00000257070:G50R;ENSP00000435397:G50R;ENSP00000381548:G38R;ENSP00000410921:G43R;ENSP00000437219:G84R	ENSP00000257070:G50R	G	-	1	0	BAI2	31994877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	2.608000	0.88229	0.462000	0.41574	GGG		0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		T	32222290	C	T	32222290	3	4	43	1	0	0	0	0	1	0	0	0	1299	652	23	1	4729	1	BAI2	1	32222290	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	322738	32222290	217028331	26	3203											
CCDC28B	79140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	32667610	32667610	+	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	ccaggccccaggcacactacGgagggtccctgtgcctacca	8	5	11	17	1	0	0	0	0	0	0	1	1	1	1	6	4	3	1	6	4	2	2	rs371310338		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:32667610G>A	ENST00000373602.5	+	2	421	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000483009.1_3'UTR|CCDC28B_ENST00000421922.2_Missense_Mutation_p.R25Q	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	25			R -> W (in dbSNP:rs1407134).		cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGCACACTACGGAGGGTCCCT	0.637																																						.											0								G	GLN/ARG	0,4406		0,0,2203	43	51	49		74	5.4	0.8	1		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC28B	NM_024296.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	25/201	32667610	1,13005	2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.74G>A	1.37:g.32667610G>A	ENSP00000362704:p.Arg25Gln		A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	34	5.322060	0.95708	0.0	1.16E-4	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.54866	0.64;0.55	5.39	5.39	0.77823	.	0.115026	0.64402	D	0.000020	T	0.58047	0.2095	L	0.55481	1.735	0.40176	D	0.97723	D;D	0.76494	0.96;0.999	B;P	0.56751	0.238;0.805	T	0.58411	-0.7641	10	0.40728	T	0.16	-1.0299	8.1332	0.31039	0.084:0.1605:0.7555:0.0	.	25;25	Q9BUN5;E9PM81	CC28B_HUMAN;.	Q	25	ENSP00000362704:R25Q;ENSP00000413017:R25Q	ENSP00000362704:R25Q	R	+	2	0	CCDC28B	32440197	1.000000	0.71417	0.838000	0.33150	0.981000	0.71138	6.802000	0.75175	2.704000	0.92352	0.655000	0.94253	CGG		0.637	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		A	32667610	G	A	32667610	3	1	43	1	0	0	0	0	1	0	0	0	2803	1116	39	1	76	1	CCDC28B	1	32667610	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	445320	32667610	216583011	27	3204											
AK2	204	mdanderson.org	37	chr1	33478959	33478959	+	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	tgcaggcggattttcaaggcCttttcattatcatctgatcg	8	15	9	9	2	4	1	3	1	1	0	5	2	4	2	1	3	1	1	1	3	2	5	rs72884305		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:33478959C>G	ENST00000373449.2	-	6	584	c.543G>C	c.(541-543)aaG>aaC	p.K181N	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000548033.1_Missense_Mutation_p.K139N|AK2_ENST00000467905.1_Missense_Mutation_p.K181N|AK2_ENST00000354858.6_Missense_Mutation_p.K181N|AK2_ENST00000480134.1_3'UTR	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)				TTTTCAAGGCCTTTTCATTAT	0.498																																						.											0													90	84	86					1																	33478959		2203	4300	6503	SO:0001583	missense	204			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.543G>C	1.37:g.33478959C>G	ENSP00000362548:p.Lys181Asn			Missense_Mutation	SNP	ENST00000373449.2	37	CCDS373.1	579	0.2651098901098901	166	0.33739837398373984	101	0.27900552486187846	109	0.19055944055944055	203	0.2678100263852243	C	13.25	2.182376	0.38511	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.17	1.5	0.22942	.	0.199168	0.50627	D	0.000117	T	0.00012	0.0000	N	0.03071	-0.42	0.80722	D	1	B;B;B;B	0.27416	0.026;0.178;0.108;0.026	B;B;B;B	0.25506	0.022;0.045;0.061;0.022	T	0.34875	-0.9811	10	0.87932	D	0	-26.0335	6.3424	0.21330	0.0:0.4499:0.1246:0.4255	.	173;139;181;181	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	N	181;139;181;181	ENSP00000362548:K181N;ENSP00000449003:K139N;ENSP00000447082:K181N;ENSP00000346921:K181N	ENSP00000346921:K181N	K	-	3	2	AK2	33251546	0.171000	0.23029	1.000000	0.80357	0.989000	0.77384	-0.404000	0.07205	0.148000	0.19059	0.563000	0.77884	AAG		0.498	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		G	33478959	C	G	33478959	3	3	43	1	0	0	0	0	1	0	0	0	440	680	24	5	189	5	AK2	1	33478959	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	811349	33478959	215771662	28	3205											
NCDN	23154	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr1	36028957	36028957	+	Missense_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	cctcggtgctgcctgacagcGtggagattggcctgcagacc	6	8	14	13	2	0	3	0	1	0	2	1	4	0	3	4	3	4	2	4	3	0	1	rs571289950		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:36028957G>A	ENST00000373243.2	+	5	1923	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	NCDN_ENST00000356090.4_Missense_Mutation_p.V514M|NCDN_ENST00000373253.3_Missense_Mutation_p.V497M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	514					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)				GCCTGACAGCGTGGAGATTGG	0.627																																						.											0													104	101	102					1																	36028957		2203	4300	6503	SO:0001583	missense	23154			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.1540G>A	1.37:g.36028957G>A	ENSP00000362340:p.Val514Met		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768116	0.69878	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.71	4.71	0.59529	.	0.301676	0.31922	N	0.006852	T	0.36413	0.0966	N	0.22421	0.69	0.30719	N	0.748488	D	0.67145	0.996	P	0.50082	0.63	T	0.41466	-0.9507	9	0.72032	D	0.01	.	10.2947	0.43616	0.1028:0.0:0.8972:0.0	.	514	Q9UBB6	NCDN_HUMAN	M	497;514;514	.	ENSP00000348394:V514M	V	+	1	0	NCDN	35801544	0.995000	0.38212	0.991000	0.47740	0.996000	0.88848	2.410000	0.44592	2.157000	0.67596	0.462000	0.41574	GTG		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		A	36028957	G	A	36028957	3	1	43	1	0	0	0	0	1	0	0	0	10214	1145	40	1	1558	1	NCDN	1	36028957	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2549998	36028957	213221664	29	3206											
EIF2C3	192669	broad.mit.edu;bcgsc.ca	37	chr1	36479606	36479606	+	Missense_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	aaatcaaaatgtgggctatcGcttgttttgccacacagagg	12	11	10	8	1	1	1	1	0	0	1	2	1	1	1	1	2	1	3	1	2	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:36479606G>A	ENST00000373191.4	+	11	1712	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.A221T|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	455					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)										GTGGGCTATCGCTTGTTTTGC	0.433																																						.											0													161	152	155					1																	36479606		2203	4300	6503	SO:0001583	missense	192669			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.1363G>A	1.37:g.36479606G>A	ENSP00000362287:p.Ala455Thr		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602398	0.87157	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05786	3.39;3.39	5.65	5.65	0.86999	.	0.048504	0.85682	D	0.000000	T	0.20007	0.0481	M	0.91354	3.2	0.80722	D	1	B	0.26258	0.145	B	0.29440	0.102	T	0.04708	-1.0932	10	0.87932	D	0	-17.7659	19.7916	0.96461	0.0:0.0:1.0:0.0	.	455	Q9H9G7	AGO3_HUMAN	T	455;221	ENSP00000362287:A455T;ENSP00000246314:A221T	ENSP00000246314:A221T	A	+	1	0	EIF2C3	36252193	1.000000	0.71417	0.987000	0.45799	0.859000	0.49053	9.858000	0.99539	2.685000	0.91497	0.650000	0.86243	GCT		0.433	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36479606	G	A	36479606	3	1	43	1	0	0	0	0	1	0	0	0	5007	1087	38	1	1405	1	EIF2C3	1	36479606	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	450649	36479606	212771015	30	3207											
EPHA10	284656	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	38227629	38227629	+	Missense_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	ctgcagttccacgaagatgcGctgcccgcggccacggctta	7	7	12	15	5	0	1	0	0	0	1	1	2	1	1	3	2	3	4	3	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:38227629G>A	ENST00000373048.4	-	3	297	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R100C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100	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)				ACGAAGATGCGCTGCCCGCGG	0.607																																						.											0													91	85	87					1																	38227629		2203	4300	6503	SO:0001583	missense	284656			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.298C>T	1.37:g.38227629G>A	ENSP00000362139:p.Arg100Cys		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863579	0.71949	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06768	3.26;3.26;3.26	4.47	3.47	0.39725	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.34919	0.0914	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43766	-0.9371	10	0.87932	D	0	.	13.4895	0.61386	0.0:0.0:0.7792:0.2208	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	C	100	ENSP00000397746:R100C;ENSP00000362139:R100C;ENSP00000316395:R100C	ENSP00000316395:R100C	R	-	1	0	EPHA10	38000216	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	0.937000	0.28951	2.448000	0.82819	0.549000	0.68633	CGC		0.607	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38227629	G	A	38227629	3	1	43	1	0	0	0	0	1	0	0	0	5166	1087	38	1	2826	1	EPHA10	1	38227629	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1748023	38227629	211022992	31	3208											
INPP5B	3633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	38345781	38345781	+	Missense_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	tatcccagtcgtcagagcccGtatcatacttgtaagtaggc	10	11	9	11	2	2	1	2	0	0	1	4	1	3	1	2	1	2	3	2	1	5	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:38345781G>A	ENST00000373026.1	-	14	1757	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	INPP5B_ENST00000373027.1_Missense_Mutation_p.T342M|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373023.2_Missense_Mutation_p.T586M|INPP5B_ENST00000373024.3_Missense_Mutation_p.T506M			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	586	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCAGAGCCCGTATCATACTT	0.483																																						.											0													109	105	106					1																	38345781		1855	4100	5955	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1757C>T	1.37:g.38345781G>A	ENSP00000362117:p.Thr586Met		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.019861	0.93462	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.83	5.83	0.93111	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.093070	0.85682	D	0.000000	D	0.86087	0.5849	L	0.41356	1.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.68353	0.957;0.842	D	0.84515	0.0624	10	0.41790	T	0.15	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	586;506	P32019;P32019-2	I5P2_HUMAN;.	M	342;586;586;586;506	ENSP00000362118:T342M;ENSP00000362114:T586M;ENSP00000362117:T586M;ENSP00000362115:T506M	ENSP00000362114:T586M	T	-	2	0	INPP5B	38118368	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	9.637000	0.98443	2.769000	0.95229	0.655000	0.94253	ACG		0.483	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		A	38345781	G	A	38345781	3	1	43	1	0	0	0	0	1	0	0	0	7755	1145	40	1	1264	1	INPP5B	1	38345781	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	118152	38345781	210904840	32	3209											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	39951259	39951259	+	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	agtcgggctgggagtcgagcCgggagtcgagccagcagccg	7	4	19	11	5	0	0	0	0	0	0	3	4	0	2	3	3	4	2	3	3	0	0	rs201356281		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:39951259C>T	ENST00000372915.3	+	97	22047	c.21960C>T	c.(21958-21960)gcC>gcT	p.A7320A	MACF1_ENST00000539005.1_Silent_p.A5232A|MACF1_ENST00000289893.4_Silent_p.A5870A|MACF1_ENST00000545844.1_Silent_p.A5362A|MACF1_ENST00000564288.1_Silent_p.A7487A|MACF1_ENST00000567887.1_Silent_p.A7524A|MACF1_ENST00000317713.7_Silent_p.A5362A|MACF1_ENST00000361689.2_Silent_p.A5362A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7320	4 X 4 AA tandem repeats of [GS]-S-R-[AR].|C-terminal tail. {ECO:0000250}.|Ser-rich.				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)			ggagtcgagccgggagtcgag	0.552																																						.											0													38	44	42					1																	39951259		2203	4300	6503	SO:0001819	synonymous_variant	23499			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.21960C>T	1.37:g.39951259C>T			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.254|4.254	0.046072|0.046072	0.08243|0.08243	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	5.28|5.28	-5.68|-5.68	0.02436|0.02436	.|.	.|.	.|.	.|.	.|.	T|T	0.38532|0.38532	0.1044|0.1044	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39643|0.39643	-0.9604|-0.9604	4|4	.|.	.|.	.|.	.|.	3.3677|3.3677	0.07210|0.07210	0.093:0.2728:0.1651:0.4691|0.093:0.2728:0.1651:0.4691	.|.	.|.	.|.	.|.	L|W	475;300|4366;387	.|.	.|.	P|R	+|+	2|1	0|2	MACF1|MACF1	39723846|39723846	0.000000|0.000000	0.05858|0.05858	0.842000|0.842000	0.33263|0.33263	0.980000|0.980000	0.70556|0.70556	-4.901000|-4.901000	0.00172|0.00172	-0.904000|-0.904000	0.03876|0.03876	-0.786000|-0.786000	0.03341|0.03341	CCG|CGG		0.552	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39951259	C	T	39951259	2	4	43	1	0	0	0	0	0	0	0	1	9144	639	23	1		1	MACF1	1	39951259	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1605478	39951259	209299362	33	3210											
NT5C1A	84618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	40125029	40125029	+	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	gcgcagggtcttgagagcccGggccccggaactggctgcac	6	5	16	14	3	1	1	0	1	1	1	1	3	1	2	3	4	3	3	3	4	1	1	rs539519081		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:40125029G>A	ENST00000235628.1	-	6	870	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	291					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGAGCCCGGGCCCCGGAA	0.612													G|||	1	0.000199681	0	0	5008	,	,		17606	0		0	False		,,,				2504	0.001					.											0													47	57	54					1																	40125029		2203	4300	6503	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.871C>T	1.37:g.40125029G>A	ENSP00000235628:p.Arg291Trp		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764523	0.89932	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.89750	0.6805	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92744	0.6210	9	0.87932	D	0	-0.3811	19.2474	0.93908	0.0:0.0:1.0:0.0	.	291	Q9BXI3	5NT1A_HUMAN	W	291	.	ENSP00000235628:R291W	R	-	1	2	NT5C1A	39897616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.641000	0.74324	2.624000	0.88883	0.655000	0.94253	CGG		0.612	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		A	40125029	G	A	40125029	3	1	43	1	0	0	0	0	1	0	0	0	10685	1115	39	1	239	1	NT5C1A	1	40125029	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	173770	40125029	209125592	34	3211											
HIVEP3	59269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	42047504	42047504	+	Missense_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	ctgctctgaggctgacctccGcatctctcgggcatgtgggt	4	11	13	13	2	2	2	0	2	2	0	5	2	3	2	2	3	1	4	2	3	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:42047504G>A	ENST00000372583.1	-	4	3850	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R989W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R989W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R989W|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	989	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)				GCTGACCTCCGCATCTCTCGG	0.602																																						.											0													77	79	79					1																	42047504		2203	4300	6503	SO:0001583	missense	59269			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.2965C>T	1.37:g.42047504G>A	ENSP00000361664:p.Arg989Trp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295201	0.60086	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.01	4.07	0.47477	.	0.000000	0.45361	D	0.000372	T	0.49457	0.1558	M	0.76727	2.345	0.47584	D	0.99946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53585	-0.8418	10	0.87932	D	0	-0.5425	12.1102	0.53836	0.0:0.0:0.6775:0.3224	.	989;989	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	989	ENSP00000361665:R989W;ENSP00000361664:R989W;ENSP00000247584:R989W;ENSP00000410828:R989W	ENSP00000247584:R989W	R	-	1	2	HIVEP3	41820091	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.834000	0.48167	1.271000	0.44313	0.462000	0.41574	CGG		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	42047504	G	A	42047504	3	1	43	1	0	0	0	0	1	0	0	0	7188	1086	38	1	4279	1	HIVEP3	1	42047504	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1922475	42047504	207203117	35	3212											
GUCA2B	2981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	42620453	42620453	+	Missense_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	aggcccagagcctcctgcccGccgtgtgccaccaccctgct	5	6	10	20	2	0	1	0	0	0	1	1	1	1	1	8	1	4	1	8	1	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:42620453G>A	ENST00000372581.1	+	2	223	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	65					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)				CCTCCTGCCCGCCGTGTGCCA	0.657																																						.											0													47	48	47					1																	42620453		2203	4300	6503	SO:0001583	missense	2981			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.193G>A	1.37:g.42620453G>A	ENSP00000361662:p.Ala65Thr		Q52LV0	Missense_Mutation	SNP	ENST00000372581.1	37	CCDS464.1	.	.	.	.	.	.	.	.	.	.	g	5.429	0.264302	0.10294	.	.	ENSG00000044012	ENST00000372581	T	0.42900	0.96	4.83	-9.66	0.00534	.	1.074620	0.07201	N	0.857413	T	0.18509	0.0444	L	0.36672	1.1	0.09310	N	1	B	0.34313	0.448	B	0.25987	0.065	T	0.06427	-1.0827	10	0.13470	T	0.59	-0.6155	2.8913	0.05677	0.208:0.0771:0.2167:0.4983	.	65	Q16661	GUC2B_HUMAN	T	65	ENSP00000361662:A65T	ENSP00000361662:A65T	A	+	1	0	GUCA2B	42393040	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-4.184000	0.00278	-2.211000	0.00737	-0.974000	0.02594	GCC		0.657	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018307.1	NM_007102		A	42620453	G	A	42620453	3	1	43	1	0	0	0	0	1	0	0	0	6892	1087	38	1	199	1	GUCA2B	1	42620453	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	572949	42620453	206630168	36	3213											
KIAA0467	23334	broad.mit.edu	37	chr1	43896377	43896377	+	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	cttccttcatgacctgccacCgctcttcctgcacctcacgt	5	12	5	19	2	3	1	2	1	1	0	5	1	5	1	6	0	2	2	6	0	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:43896377C>T	ENST00000562955.1	+	31	4520	c.4520C>T	c.(4519-4521)cCg>cTg	p.P1507L	SZT2_ENST00000372442.1_Missense_Mutation_p.P665L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1564					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						GACCTGCCACCGCTCTTCCTG	0.597																																						.											0													133	138	137					1																	43896377		2203	4300	6503	SO:0001583	missense	23334			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.4520C>T	1.37:g.43896377C>T	ENSP00000457168:p.Pro1507Leu		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227283	0.79576	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.78086	-0.2341	9	0.87932	D	0	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	1507	Q5T011-5	.	L	665	.	ENSP00000361519:P665L	P	+	2	0	SZT2	43668964	1.000000	0.71417	0.904000	0.35570	0.859000	0.49053	7.314000	0.78988	2.733000	0.93635	0.655000	0.94253	CCG		0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43896377	C	T	43896377	3	4	43	1	0	0	0	0	1	0	0	0	8178	652	23	1	2052	1	KIAA0467	1	43896377	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1275924	43896377	205354244	37	3214											
ST3GAL3	6487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	44303969	44303969	+	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	tatgcttcagccttgatgacGgccatcttcccccggtaagt	7	12	9	13	2	2	2	1	2	1	0	3	2	3	2	4	2	2	2	4	2	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:44303969G>A	ENST00000361392.4	+	5	465	c.288G>A	c.(286-288)acG>acA	p.T96T	ST3GAL3_ENST00000372366.1_Silent_p.T95T|ST3GAL3_ENST00000528371.1_Silent_p.T80T|ST3GAL3_ENST00000262915.3_Silent_p.T165T|ST3GAL3_ENST00000531993.1_Silent_p.T80T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361746.4_Silent_p.T165T|ST3GAL3_ENST00000361400.4_Silent_p.T80T|ST3GAL3_ENST00000531451.1_Silent_p.T80T|ST3GAL3_ENST00000372362.2_Silent_p.T96T|ST3GAL3_ENST00000330208.2_Silent_p.T96T|ST3GAL3_ENST00000372372.2_Silent_p.T134T|ST3GAL3_ENST00000372369.1_Silent_p.T96T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000531816.1_Silent_p.T80T|ST3GAL3_ENST00000545417.1_Silent_p.T111T|ST3GAL3_ENST00000372375.2_Silent_p.T150T|ST3GAL3_ENST00000361812.4_Silent_p.T111T|ST3GAL3_ENST00000372365.1_Silent_p.T96T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000533933.1_Silent_p.T96T|ST3GAL3_ENST00000335430.6_Silent_p.T80T|ST3GAL3_ENST00000372377.4_Silent_p.T96T|ST3GAL3_ENST00000372367.1_Silent_p.T95T|ST3GAL3_ENST00000353126.3_Silent_p.T96T|ST3GAL3_ENST00000351035.3_Silent_p.T134T|ST3GAL3_ENST00000372368.2_Silent_p.T150T|ST3GAL3_ENST00000347631.2_Silent_p.T111T	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	96					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)|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)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTTGATGACGGCCATCTTCC	0.542																																						.											0													184	168	173					1																	44303969		2203	4300	6503	SO:0001819	synonymous_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.288G>A	1.37:g.44303969G>A			A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	CCDS492.1																																																																																				0.542	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		A	44303969	G	A	44303969	2	1	43	1	0	0	0	0	0	0	0	1	15215	1103	39	1		1	ST3GAL3	1	44303969	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	407592	44303969	204946652	38	3215											
MAST2	23139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	46493480	46493480	+	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	tggcctcatgagtctgacaaCgaacttgtatgagggtcata	11	11	11	8	1	3	3	2	3	1	0	3	4	3	3	1	2	2	1	1	2	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:46493480C>T	ENST00000361297.2	+	17	2280	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	MAST2_ENST00000372009.2_Missense_Mutation_p.T596M	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGTCTGACAACGAACTTGTAT	0.458																																						.											0													115	113	113					1																	46493480		1908	4135	6043	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1997C>T	1.37:g.46493480C>T	ENSP00000354671:p.Thr666Met			Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134446	0.77662	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.68624	-0.3;-0.26;-0.34	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053664	0.64402	D	0.000001	T	0.78181	0.4243	L	0.43554	1.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.91635	0.996;0.906;0.999;0.999	T	0.79443	-0.1801	10	0.87932	D	0	-13.9027	19.5867	0.95492	0.0:1.0:0.0:0.0	.	596;340;596;666	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	M	666;596;340;551	ENSP00000354671:T666M;ENSP00000361079:T596M;ENSP00000361078:T551M	ENSP00000354671:T666M	T	+	2	0	MAST2	46266067	1.000000	0.71417	0.993000	0.49108	0.426000	0.31534	7.818000	0.86416	2.712000	0.92718	0.561000	0.74099	ACG		0.458	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46493480	C	T	46493480	3	4	43	1	0	0	0	0	1	0	0	0	9325	536	19	1	2063	1	MAST2	1	46493480	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2189511	46493480	202757141	39	3216											
MOBKL2C	148932	broad.mit.edu;hgsc.bcm.edu	37	chr1	47078805	47078805	+	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	cggttgaagaagtccaccacGtgcacggcgatccagtcgtc	9	7	12	13	5	0	2	0	1	0	1	4	3	2	2	3	2	1	2	3	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:47078805G>A	ENST00000319928.3	-	2	419	c.189C>T	c.(187-189)caC>caT	p.H63H	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_Silent_p.H86H|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Silent_p.H115H	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	63							metal ion binding (GO:0046872)										AGTCCACCACGTGCACGGCGA	0.637																																						.											0													113	80	91					1																	47078805		2203	4300	6503	SO:0001819	synonymous_variant	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.189C>T	1.37:g.47078805G>A			D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Silent	SNP	ENST00000319928.3	37	CCDS540.1																																																																																				0.637	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		A	47078805	G	A	47078805	2	1	43	1	0	0	0	0	0	0	0	1	9686	1136	40	1		1	MOBKL2C	1	47078805	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	585325	47078805	202171816	40	3217											
BEND5	79656	broad.mit.edu	37	chr1	49208391	49208391	+	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	ctgaaagtgctccgtaactcCggctcgggctcgagacattc	8	9	11	13	4	0	2	0	1	0	1	5	3	2	2	2	2	2	4	2	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:49208391C>A	ENST00000371833.3	-	4	884	c.798G>T	c.(796-798)ccG>ccT	p.P266P	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	266						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TCCGTAACTCCGGCTCGGGCT	0.468																																						.											0													104	98	100					1																	49208391		2203	4300	6503	SO:0001819	synonymous_variant	79656			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.798G>T	1.37:g.49208391C>A			D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	37	CCDS552.2																																																																																				0.468	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		A	49208391	C	A	49208391	2	1	43	1	0	0	0	0	0	0	0	1	1401	639	23	5		5	BEND5	1	49208391	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2129586	49208391	200042230	41	3218											
SLC1A7	6512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	53580601	53580601	+	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	ccacggtgaggacgcccaggCggctagaggtcttggcatcc	7	6	15	13	3	1	2	0	1	1	1	2	3	2	3	3	6	0	2	3	6	1	2	rs139757854	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:53580601C>T	ENST00000371494.4	-	3	387	c.260G>A	c.(259-261)cGc>cAc	p.R87H	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.R87H	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	87					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)		GACGCCCAGGCGGCTAGAGGT	0.662													C|||	7	0.00139776	0.0038	0.0014	5008	,	,		19321	0.001		0	False		,,,				2504	0				NSCLC(128;80 1811 21245 38490 51715)	.											0								C	HIS/ARG	13,4393	21.2+/-45.6	0,13,2190	81	66	71		260	5.7	1	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC1A7	NM_006671.4	29	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	probably-damaging	87/561	53580601	14,12992	2203	4300	6503	SO:0001583	missense	6512			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.260G>A	1.37:g.53580601C>T	ENSP00000360549:p.Arg87His		Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	CCDS574.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	36	5.643268	0.96704	0.002951	1.16E-4	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.62498	0.02;0.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	M	0.93462	3.42	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.955;0.982	D	0.88426	0.3032	10	0.87932	D	0	-19.1116	19.8154	0.96566	0.0:1.0:0.0:0.0	.	87;87	Q9BW45;O00341	.;EAA5_HUMAN	H	87	ENSP00000360549:R87H;ENSP00000360546:R87H	ENSP00000360546:R87H	R	-	2	0	SLC1A7	53353189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.699000	0.92147	0.655000	0.94253	CGC		0.662	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		T	53580601	C	T	53580601	3	4	43	1	0	0	0	0	1	0	0	0	14437	768	27	1	1458	1	SLC1A7	1	53580601	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4372210	53580601	195670020	42	3219											
C1orf168	199920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	57185885	57185885	+	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	acatatcactagattttgttCggtggtatcaatgacttcca	11	15	7	8	1	2	2	2	1	0	1	4	2	3	2	1	2	0	2	1	2	4	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:57185885C>T	ENST00000343433.6	-	18	2172	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	698										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGATTTTGTTCGGTGGTATCA	0.303																																						.											0													73	69	70					1																	57185885		2202	4299	6501	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.2092G>A	1.37:g.57185885C>T	ENSP00000345972:p.Glu698Lys		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573175	0.45902	.	.	ENSG00000187889	ENST00000343433	T	0.33865	1.39	4.85	1.8	0.24995	Src homology-3 domain (2);	0.106418	0.40385	N	0.001119	T	0.30510	0.0767	M	0.68317	2.08	0.37302	D	0.908737	B	0.31989	0.35	B	0.22880	0.042	T	0.33624	-0.9861	10	0.62326	D	0.03	-12.4878	8.1341	0.31043	0.0:0.7104:0.1321:0.1575	.	698	Q5VWT5	CA168_HUMAN	K	698	ENSP00000345972:E698K	ENSP00000345972:E698K	E	-	1	0	C1orf168	56958473	0.970000	0.33590	0.944000	0.38274	0.296000	0.27459	1.987000	0.40687	0.777000	0.33496	-0.727000	0.03589	GAA		0.303	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		T	57185885	C	T	57185885	3	4	43	1	0	0	0	0	1	0	0	0	2012	893	31	1	106	1	C1orf168	1	57185885	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3605284	57185885	192064736	43	3220											
NFIA	4774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	61818215	61818215	+	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	tccaggagcaatgaggaggtCtttacccagcacatcctcta	11	9	9	12	0	2	1	0	1	2	0	4	3	4	3	3	3	3	2	3	3	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:61818215C>T	ENST00000403491.3	+	5	1278	c.794C>T	c.(793-795)tCt>tTt	p.S265F	NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371185.2_Missense_Mutation_p.S243F|NFIA_ENST00000485903.2_Missense_Mutation_p.S265F|NFIA_ENST00000371187.3_Missense_Mutation_p.S265F|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Missense_Mutation_p.S257F|NFIA_ENST00000371191.1_Missense_Mutation_p.S288F|NFIA_ENST00000371189.4_Missense_Mutation_p.S310F	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	265					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						ATGAGGAGGTCTTTACCCAGC	0.433																																						.											0													99	97	97					1																	61818215		2203	4300	6503	SO:0001583	missense	4774			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.794C>T	1.37:g.61818215C>T	ENSP00000384523:p.Ser265Phe		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838354	0.91117	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.85	5.85	0.93711	.	0.055720	0.85682	D	0.000000	T	0.60157	0.2247	M	0.77820	2.39	0.54753	D	0.999984	P;P;P;P	0.47191	0.785;0.891;0.82;0.867	P;P;B;B	0.46026	0.466;0.501;0.378;0.367	T	0.65368	-0.6185	10	0.72032	D	0.01	-11.0848	20.1576	0.98120	0.0:1.0:0.0:0.0	.	310;288;265;265	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	F	288;257;310;265;265;243;265	ENSP00000360233:S288F;ENSP00000384680:S257F;ENSP00000360231:S310F;ENSP00000384523:S265F;ENSP00000419785:S265F;ENSP00000360227:S243F;ENSP00000360229:S265F	ENSP00000360227:S243F	S	+	2	0	NFIA	61590803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.212000	0.77941	2.773000	0.95371	0.650000	0.86243	TCT		0.433	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		T	61818215	C	T	61818215	3	4	43	1	0	0	0	0	1	0	0	0	10370	913	32	4	958	4	NFIA	1	61818215	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4632330	61818215	187432406	44	3221											
KANK4	163782	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	62739646	62739646	+	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	ttctttgctccctagctttgAtttcctcttcctgctgctgg	2	19	7	13	0	2	1	0	1	2	0	5	1	5	1	3	1	4	4	3	1	1	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:62739646A>T	ENST00000371153.4	-	3	1508	c.1130T>A	c.(1129-1131)aTc>aAc	p.I377N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	377						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTAGCTTTGATTTCCTCTTC	0.542																																						.											0													119	108	112					1																	62739646		2203	4300	6503	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1130T>A	1.37:g.62739646A>T	ENSP00000360195:p.Ile377Asn		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	A	3.082	-0.188865	0.06299	.	.	ENSG00000132854	ENST00000371153	T	0.44881	0.91	5.36	0.288	0.15719	.	1.022470	0.07836	N	0.962235	T	0.30916	0.0780	L	0.40543	1.245	0.09310	N	1	B	0.34181	0.44	B	0.31191	0.125	T	0.25813	-1.0121	10	0.87932	D	0	-1.2477	5.3376	0.15967	0.6232:0.1378:0.239:0.0	.	377	Q5T7N3	KANK4_HUMAN	N	377	ENSP00000360195:I377N	ENSP00000360195:I377N	I	-	2	0	KANK4	62512234	0.000000	0.05858	0.036000	0.18154	0.004000	0.04260	0.556000	0.23438	-0.194000	0.10399	-0.415000	0.06103	ATC		0.542	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		T	62739646	A	T	62739646	3	4	43	1	0	0	0	0	1	0	0	0	7979	333	12	5	1889	5	KANK4	1	62739646	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	921431	62739646	186510975	45	3222											
DOCK7	85440	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	62979274	62979274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcgttcaaacactttttTcccctaaaatgtaaacatta	14	15	2	10	1	1	0	1	0	0	0	3	0	2	0	2	0	2	2	2	0	6	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:62979274T>C	ENST00000340370.5	-	32	4047	c.4030A>G	c.(4030-4032)Aaa>Gaa	p.K1344E	DOCK7_ENST00000251157.5_Missense_Mutation_p.K1375E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1375					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						AACACTTTTTTCCCCTAAAAT	0.353																																						.											0													75	73	73					1																	62979274		2203	4300	6503	SO:0001583	missense	85440				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.4030A>G	1.37:g.62979274T>C	ENSP00000340742:p.Lys1344Glu		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.944363|3.944363	0.73672|0.73672	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.02216	.|4.39;4.39	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.10380|0.10380	0.0254|0.0254	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|B;P;P;P;P;P	.|0.52170	.|0.397;0.855;0.835;0.835;0.951;0.824	.|B;P;P;P;P;P	.|0.57548	.|0.269;0.64;0.574;0.574;0.823;0.767	T|T	0.00260|0.00260	-1.1869|-1.1869	5|10	.|0.72032	.|D	.|0.01	.|.	15.8506|15.8506	0.78927|0.78927	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1375;1375;1344;1344;1344;1375	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	G|E	546|1375;1375;1344;114	.|ENSP00000251157:K1375E;ENSP00000340742:K1344E	.|ENSP00000251157:K1375E	E|K	-|-	2|1	0|0	DOCK7|DOCK7	62751862|62751862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	8.037000|8.037000	0.88933|0.88933	2.137000|2.137000	0.66172|0.66172	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.353	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		C	62979274	T	C	62979274	3	2	43	1	0	0	0	0	1	0	0	0	4692	1792	62	4	2371	4	DOCK7	1	62979274	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	239628	62979274	186271347	46	3223											
CACHD1	57685	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	65146953	65146953	+	Missense_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	atgggtagaaatgtcagtgcGtatgtccaacctggagaatg	12	10	13	6	1	1	2	1	0	0	2	2	3	2	2	2	2	2	2	2	2	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:65146953G>A	ENST00000371073.2	+	25	3419	c.3419G>A	c.(3418-3420)cGt>cAt	p.R1140H	CACHD1_ENST00000290039.5_Missense_Mutation_p.R1089H|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1140					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						ATGTCAGTGCGTATGTCCAAC	0.443																																						.											0													177	167	170					1																	65146953		2203	4300	6503	SO:0001583	missense	57685			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.3419G>A	1.37:g.65146953G>A	ENSP00000360113:p.Arg1140His		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.895773	0.91962	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.28454	1.61;1.63	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.22243	-1.0222	10	0.56958	D	0.05	-17.9156	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1140	Q5VU97	CAHD1_HUMAN	H	1140;1089	ENSP00000360113:R1140H;ENSP00000290039:R1089H	ENSP00000290039:R1089H	R	+	2	0	CACHD1	64919541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.724000	0.93272	0.563000	0.77884	CGT		0.443	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		A	65146953	G	A	65146953	3	1	43	1	0	0	0	0	1	0	0	0	2537	1145	40	1	3364	1	CACHD1	1	65146953	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2167679	65146953	184103668	47	3224											
FUBP1	8880	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	78428480	78428480	+	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	tcttttcttctatgagttgcCgagcatagtctatctgttgt	6	19	8	8	1	5	1	0	1	5	0	5	2	5	1	1	0	2	3	1	0	3	8	rs569795654		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:78428480C>T	ENST00000370768.2	-	14	1400	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	FUBP1_ENST00000436586.2_Missense_Mutation_p.R461Q|FUBP1_ENST00000370767.1_Missense_Mutation_p.R440Q	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	440	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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						TATGAGTTGCCGAGCATAGTC	0.343			"F, N"		oligodendroglioma								C|||	1	0.000199681	0	0	5008	,	,		18337	0		0	False		,,,				2504	0.001					.		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													102	98	99					1																	78428480		2202	4300	6502	SO:0001583	missense	8880			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.1319G>A	1.37:g.78428480C>T	ENSP00000359804:p.Arg440Gln		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629104	0.67015	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.30981	1.51;1.51;1.51	5.63	4.72	0.59763	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	N	0.20685	0.6	0.58432	D	0.999999	P;P	0.51537	0.946;0.6	P;B	0.47430	0.547;0.144	T	0.02885	-1.1098	10	0.07990	T	0.79	-13.7264	14.6631	0.68888	0.0:0.9301:0.0:0.0699	.	461;440	B4DT31;Q96AE4	.;FUBP1_HUMAN	Q	439;440;440;439;461	ENSP00000359803:R440Q;ENSP00000359804:R440Q;ENSP00000389536:R461Q	ENSP00000294623:R439Q	R	-	2	0	FUBP1	78201068	1.000000	0.71417	0.997000	0.53966	0.014000	0.08584	7.773000	0.85462	1.531000	0.49152	0.650000	0.86243	CGG		0.343	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		T	78428480	C	T	78428480	3	4	43	1	0	0	0	0	1	0	0	0	6092	652	23	1	643	1	FUBP1	1	78428480	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	13281527	78428480	170822141	48	3225											
SH3GLB1	51100	mdanderson.org	37	chr1	87181510	87181510	+	Missense_Mutation	SNP	T	T	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	caaaatatggacagaaaaaaTaatgaaacaaactgaagtgt	23	7	7	4	0	0	3	0	2	0	1	0	4	0	4	0	1	2	0	0	1	10	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:87181510T>C	ENST00000370558.4	+	2	500	c.176T>C	c.(175-177)aTa>aCa	p.I59T	SH3GLB1_ENST00000535010.1_Intron|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.I59T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	59	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ACAGAAAAAATAATGAAACAA	0.358																																						.											0													72	69	70					1																	87181510		2203	4300	6503	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.176T>C	1.37:g.87181510T>C	ENSP00000473267:p.Ile59Thr		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	CCDS710.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522680	0.64747	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.36340	1.26	5.21	5.21	0.72293	BAR (3);	0.041759	0.85682	D	0.000000	T	0.55114	0.1900	M	0.87827	2.91	0.80722	D	1	P;D	0.55605	0.726;0.972	B;P	0.62491	0.261;0.903	T	0.65656	-0.6115	10	0.87932	D	0	-9.4644	15.0805	0.72110	0.0:0.0:0.0:1.0	.	59;59	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	T	59	ENSP00000418744:I59T	ENSP00000212369:I59T	I	+	2	0	SH3GLB1	86954098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.963000	0.57068	0.482000	0.46254	ATA		0.358	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		C	87181510	T	C	87181510	3	2	43	1	0	0	0	0	1	0	0	0	14253	1406	49	4	182	4	SH3GLB1	1	87181510	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	8753030	87181510	162069111	49	3226											
HFM1	164045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	91809065	91809065	+	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	attcagattcttcaaacataAttctgtttaattatagaaaa	17	16	3	5	0	4	2	2	0	2	2	4	2	4	2	0	0	1	1	0	0	7	9			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:91809065A>G	ENST00000370425.3	-	20	2355	c.2257T>C	c.(2257-2259)Tta>Cta	p.L753L	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.L432L	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	753					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCAAACATAATTCTGTTTAA	0.264																																						.											0													20	20	20					1																	91809065		2177	4229	6406	SO:0001819	synonymous_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2257T>C	1.37:g.91809065A>G			B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2																																																																																				0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		G	91809065	A	G	91809065	2	3	43	1	0	0	0	0	0	0	0	1	7083	98	4	4		4	HFM1	1	91809065	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	4627555	91809065	157441556	50	3227											
VCAM1	7412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	101186203	101186203	+	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	gaatgaggggaccacatctaCgctgacaatgaatcctgtta	13	9	10	9	1	1	3	0	3	1	0	2	5	2	4	2	2	1	2	2	2	5	2	rs142501320		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:101186203C>T	ENST00000294728.2	+	2	337	c.236C>T	c.(235-237)aCg>aTg	p.T79M	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.T79M|VCAM1_ENST00000347652.2_Missense_Mutation_p.T79M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	79	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)	ACCACATCTACGCTGACAATG	0.468																																						.											0								C	MET/THR,,MET/THR	0,4406		0,0,2203	108	92	98		236,,236	0.8	0.1	1	dbSNP_134	98	1,8599		0,1,4299	no	missense,intron,missense	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	81,,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging	79/740,,79/648	101186203	1,13005	2203	4300	6503	SO:0001583	missense	7412			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.236C>T	1.37:g.101186203C>T	ENSP00000294728:p.Thr79Met		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703656	0.30232	0.0	1.16E-4	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.70986	-0.53;-0.53;-0.53	5.82	0.799	0.18667	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.500140	0.25035	N	0.033655	T	0.65015	0.2651	M	0.87038	2.855	0.19945	N	0.999943	P;P	0.51653	0.915;0.947	B;P	0.49561	0.118;0.615	T	0.61681	-0.7013	9	.	.	.	-0.3281	8.3979	0.32568	0.0:0.6113:0.0:0.3887	.	79;79	P19320-2;P19320	.;VCAM1_HUMAN	M	79	ENSP00000304611:T79M;ENSP00000294728:T79M;ENSP00000359133:T79M	.	T	+	2	0	VCAM1	100958791	0.000000	0.05858	0.093000	0.20910	0.435000	0.31806	-0.230000	0.09083	0.097000	0.17492	-0.136000	0.14681	ACG		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		T	101186203	C	T	101186203	3	4	43	1	0	0	0	0	1	0	0	0	17134	536	19	1	242	1	VCAM1	1	101186203	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9377138	101186203	148064418	51	3228											
KIAA1324	57535	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	109735386	109735386	+	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	ctgctggttactatattgacCgagattcaggaacctgccac	10	11	9	11	1	1	2	1	1	0	1	1	4	1	3	3	2	4	2	3	2	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:109735386C>T	ENST00000369939.3	+	14	2020	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R526*	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	613					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.R613*(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTATATTGACCGAGATTCAGG	0.557																																						.											1	Substitution - Nonsense(1)	breast(1)											171	161	164					1																	109735386		2203	4300	6503	SO:0001587	stop_gained	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1837C>T	1.37:g.109735386C>T	ENSP00000358955:p.Arg613*		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Nonsense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	36	5.811795	0.96975	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	4.81	3.87	0.44632	.	0.296646	0.33732	N	0.004604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	0.3541	10.9302	0.47213	0.4598:0.5402:0.0:0.0	.	.	.	.	X	613;563;526	.	ENSP00000358955:R613X	R	+	1	2	KIAA1324	109536909	0.001000	0.12720	0.993000	0.49108	0.969000	0.65631	0.746000	0.26275	1.343000	0.45638	0.650000	0.86243	CGA		0.557	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		T	109735386	C	T	109735386	4	4	43	1	0	0	0	0	0	1	0	0	8223	644	23	1	1891	1	KIAA1324	1	109735386	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8549183	109735386	139515235	52	3229											
GSTM2	2946	broad.mit.edu	37	chr1	110211966	110211966	+	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	cccagagcaacgccatcctgCggtacattgcccgcaagcac	10	5	9	17	3	0	1	0	0	0	1	1	1	1	1	4	1	6	4	4	1	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:110211966C>T	ENST00000241337.4	+	4	282	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	GSTM2_ENST00000369831.2_Missense_Mutation_p.R78W|GSTM2_ENST00000460717.3_Missense_Mutation_p.R78W|GSTM2_ENST00000369827.3_Missense_Mutation_p.R76W|GSTM2_ENST00000369829.2_Missense_Mutation_p.R78W|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Missense_Mutation_p.R78W|GSTM2_ENST00000464206.1_3'UTR	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	78	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CGCCATCCTGCGGTACATTGC	0.592																																						.											0													236	197	210					1																	110211966		2203	4300	6503	SO:0001583	missense	2946			M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"Glutathione S-transferases / Soluble"	4634	protein-coding gene	gene with protein product		138380	"glutathione S-transferase M2 (muscle)"			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.232C>T	1.37:g.110211966C>T	ENSP00000241337:p.Arg78Trp		B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	CCDS808.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596233	0.66332	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97;2.97	3.12	3.12	0.35913	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.068387	0.56097	U	0.000040	T	0.45337	0.1337	H	0.99777	4.77	0.50313	D	0.999867	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.68044	-0.5513	10	0.87932	D	0	.	11.6039	0.51020	0.0:1.0:0.0:0.0	.	78;78;78	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	W	78;76;78;78;78;78;78	ENSP00000416883:R78W;ENSP00000358842:R76W;ENSP00000358846:R78W;ENSP00000435910:R78W;ENSP00000435157:R78W;ENSP00000358844:R78W;ENSP00000241337:R78W	ENSP00000241337:R78W	R	+	1	2	GSTM2	110013489	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	2.607000	0.46300	1.740000	0.51718	0.552000	0.68991	CGG		0.592	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		T	110211966	C	T	110211966	3	4	43	1	0	0	0	0	1	0	0	0	6838	759	27	1	246	1	GSTM2	1	110211966	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	476580	110211966	139038655	53	3230											
SLC6A17	388662	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	110709687	110709687	+	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	atgtggctggtgaggcaggcGgcaagcagaaggcggtggag	9	5	21	6	2	0	2	0	1	0	1	0	3	0	3	0	8	1	4	0	8	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:110709687G>A	ENST00000331565.4	+	2	621	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	46					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)		TGAGGCAGGCGGCAAGCAGAA	0.612																																						.											0													61	50	54					1																	110709687		2203	4300	6503	SO:0001583	missense	388662				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.136G>A	1.37:g.110709687G>A	ENSP00000330199:p.Gly46Ser		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487155	0.04352	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74106	-0.81	4.55	1.64	0.23874	.	1.365360	0.04314	N	0.349445	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22800	-1.0206	10	0.06757	T	0.87	.	8.1845	0.31330	0.3973:0.0:0.6027:0.0	.	46	Q9H1V8	S6A17_HUMAN	S	46	ENSP00000330199:G46S	ENSP00000330199:G46S	G	+	1	0	SLC6A17	110511210	0.445000	0.25657	0.441000	0.26858	0.138000	0.21146	0.667000	0.25112	0.168000	0.19655	-0.993000	0.02533	GGC		0.612	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		A	110709687	G	A	110709687	3	1	43	1	0	0	0	0	1	0	0	0	14680	1116	39	1	138	1	SLC6A17	1	110709687	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	497721	110709687	138540934	54	3231											
IGSF3	3321	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	117150686	117150686	+	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	atttcccgctatcttcctggCggaggtggtagatcttcagc	6	13	11	11	2	3	1	1	0	2	1	5	2	5	2	2	4	1	2	2	4	2	5	rs202203327	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:117150686C>T	ENST00000369486.3	-	5	1865	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	IGSF3_ENST00000369483.1_Missense_Mutation_p.R367H|IGSF3_ENST00000318837.6_Missense_Mutation_p.R367H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	367	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)		ATCTTCCTGGCGGAGGTGGTA	0.537																																						.											0													61	63	62					1																	117150686		2199	4295	6494	SO:0001583	missense	3321			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.1100G>A	1.37:g.117150686C>T	ENSP00000358498:p.Arg367His		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442537	0.63067	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.68479	-0.33;-0.33;-0.33	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.187265	0.47852	D	0.000220	T	0.59636	0.2208	N	0.12182	0.205	0.42261	D	0.992011	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.997	T	0.64622	-0.6364	10	0.39692	T	0.17	-35.2863	15.4322	0.75108	0.0:1.0:0.0:0.0	.	367;367;367	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	H	367	ENSP00000358498:R367H;ENSP00000358495:R367H;ENSP00000321184:R367H	ENSP00000321184:R367H	R	-	2	0	IGSF3	116952209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.622000	0.46427	2.571000	0.86741	0.557000	0.71058	CGC		0.537	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117150686	C	T	117150686	3	4	43	1	0	0	0	0	1	0	0	0	7601	768	27	1	2576	1	IGSF3	1	117150686	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6440999	117150686	132099935	55	3232											
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	144879218	144879218	+	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	cctcatcctcatcagggacaCtatgaggtgaagacccctcc	10	8	8	15	0	3	3	3	2	0	1	5	4	5	4	5	2	0	0	5	2	2	1	rs587744111	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:144879218C>T	ENST00000369354.3	-	27	4421	c.4232G>A	c.(4231-4233)aGt>aAt	p.S1411N	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1547N|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1547N|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1411N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1367N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1411					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)		ATCAGGGACACTATGAGGTGA	0.547			T	PDGFRB	MPD																																	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													94	98	97					1																	144879218		2203	4300	6503	SO:0001583	missense	9659			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.4232G>A	1.37:g.144879218C>T	ENSP00000358360:p.Ser1411Asn		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	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468890	0.63625	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02103	4.45;4.57;4.55;4.55;4.57	5.55	5.55	0.83447	.	.	.	.	.	T	0.03871	0.0109	M	0.66939	2.045	0.80722	D	1	D;P	0.55800	0.973;0.9	P;P	0.50490	0.642;0.576	T	0.48198	-0.9056	9	0.48119	T	0.1	.	17.002	0.86383	0.0:1.0:0.0:0.0	.	1367;1411	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1367;1411;1411;1547;1547	ENSP00000327209:S1367N;ENSP00000358360:S1411N;ENSP00000358363:S1411N;ENSP00000435654:S1547N;ENSP00000358366:S1547N	ENSP00000327209:S1367N	S	-	2	0	PDE4DIP	143590575	1.000000	0.71417	0.844000	0.33320	0.112000	0.19704	6.873000	0.75541	2.616000	0.88540	0.591000	0.81541	AGT		0.547	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144879218	C	T	144879218	3	4	43	1	0	0	0	0	1	0	0	0	11643	565	20	4	2880	4	PDE4DIP	1	144879218	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	27728532	144879218	104371403	56	3233											
NBPF10	100132406	mdanderson.org	37	chr1	145299824	145299824	+	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	gagatgaacattctagaaatCaatgagaaattgcgccccca	16	8	8	9	1	2	4	1	2	1	3	2	6	2	4	2	0	2	0	2	0	5	3	rs9424711		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:145299824C>G	ENST00000369338.1	+	2	250	c.60C>G	c.(58-60)atC>atG	p.I20M	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.I291M|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	291						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)		TTCTAGAAATCAATGAGAAAT	0.522																																						.											0													14	12	12					1																	145299824		691	1577	2268	SO:0001583	missense	100132406			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	ENST00000369338.1:c.60C>G	1.37:g.145299824C>G	ENSP00000358344:p.Ile20Met		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	8.435	0.849541	0.17034	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03272	3.99;4.04	1.05	1.05	0.20165	.	.	.	.	.	T	0.01835	0.0058	M	0.73962	2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	9	0.48119	T	0.1	.	5.4961	0.16804	0.0:1.0:0.0:0.0	rs9424711	20	Q86T75-2	.	M	216;20;20;291	ENSP00000358344:I20M;ENSP00000345684:I291M	ENSP00000345684:I291M	I	+	3	3	NBPF10	144011181	0.009000	0.17119	0.003000	0.11579	0.009000	0.06853	0.514000	0.22786	0.879000	0.35944	0.281000	0.19383	ATC		0.522	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		G	145299824	C	G	145299824	3	3	43	1	0	0	0	0	1	0	0	0	10193	816	29	5	895	5	NBPF10	1	145299824	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	420606	145299824	103950797	57	3234											
C1orf51	148523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	150259023	150259023	+	Missense_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	aatttgcaacccccctctcaGctccccaggtactatctcct	8	11	4	18	0	2	0	1	0	2	0	5	0	3	0	6	1	4	3	6	1	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150259023G>A	ENST00000290363.5	+	5	1264	c.815G>A	c.(814-816)aGc>aAc	p.S272N	C1orf51_ENST00000369094.1_Missense_Mutation_p.S184N|C1orf51_ENST00000369095.1_Missense_Mutation_p.S272N	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		272					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	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)			CCCCCTCTCAGCTCCCCAGGT	0.527																																						.											0													229	185	200					1																	150259023		2203	4300	6503	SO:0001583	missense	148523																														ENST00000290363.5:c.815G>A	1.37:g.150259023G>A	ENSP00000290363:p.Ser272Asn		B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099915	0.56183	.	.	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.65	5.65	0.86999	.	0.583933	0.18710	N	0.133303	T	0.45716	0.1356	L	0.60455	1.87	0.30762	N	0.743957	B	0.30584	0.286	B	0.38985	0.287	T	0.50608	-0.8808	9	0.59425	D	0.04	-3.4695	16.751	0.85485	0.0:0.0:1.0:0.0	.	272	Q8N365	CA051_HUMAN	N	184;272;184;184;272	.	ENSP00000290363:S272N	S	+	2	0	C1orf51	148525647	0.426000	0.25506	0.494000	0.27515	0.805000	0.45488	4.988000	0.63863	2.941000	0.99782	0.655000	0.94253	AGC		0.527	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			A	150259023	G	A	150259023	3	1	43	1	0	0	0	0	1	0	0	0	2043	971	34	4	833	4	C1orf51	1	150259023	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4959199	150259023	98991598	58	3235											
RPRD2	23248	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	150445515	150445515	+	Missense_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	caacggccctggccttagccGtgtacgagagagcctcaccc	8	6	11	16	3	1	1	1	0	0	1	1	3	1	1	5	2	4	1	5	2	3	2	rs372428982		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150445515G>A	ENST00000369068.4	+	11	4095	c.4091G>A	c.(4090-4092)cGt>cAt	p.R1364H	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1338H|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1364	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGCCTTAGCCGTGTACGAGAG	0.662													G|||	1	0.000199681	0	0	5008	,	,		15852	0		0	False		,,,				2504	0.001					.											0								G	HIS/ARG	0,3872		0,0,1936	33	36	35		4091	3.5	1	1		35	2,8246		0,2,4122	no	missense	RPRD2	NM_015203.3	29	0,2,6058	AA,AG,GG		0.0242,0.0,0.0165	probably-damaging	1364/1462	150445515	2,12118	1936	4124	6060	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4091G>A	1.37:g.150445515G>A	ENSP00000358064:p.Arg1364His		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504194	0.64410	0.0	2.42E-4	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.54866	0.55;0.56	4.43	3.52	0.40303	.	0.088754	0.45867	N	0.000333	T	0.43366	0.1244	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63033	0.816;0.91	T	0.50145	-0.8862	10	0.59425	D	0.04	-2.0436	12.1687	0.54146	0.0841:0.0:0.9159:0.0	.	1364;1338	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	H	1338;1364	ENSP00000383785:R1338H;ENSP00000358064:R1364H	ENSP00000358064:R1364H	R	+	2	0	RPRD2	148712139	0.995000	0.38212	0.993000	0.49108	0.997000	0.91878	2.455000	0.44988	1.086000	0.41228	0.650000	0.86243	CGT		0.662	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150445515	G	A	150445515	3	1	43	1	0	0	0	0	1	0	0	0	13617	1145	40	1	4133	1	RPRD2	1	150445515	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	186492	150445515	98805106	59	3236											
HORMAD1	84072	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	150679259	150679259	+	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	acaatcaccatccttaaaacCgggaggctggtaatctgggg	12	8	11	10	1	2	0	1	0	1	0	3	1	3	1	3	5	1	2	3	5	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150679259C>T	ENST00000361824.2	-	10	679	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	HORMAD1_ENST00000368993.2_Missense_Mutation_p.G192S|HORMAD1_ENST00000368995.4_Missense_Mutation_p.G112S|HORMAD1_ENST00000322343.7_Missense_Mutation_p.G185S	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	192	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)			TCCTTAAAACCGGGAGGCTGG	0.343																																						.											0													58	59	59					1																	150679259		2202	4298	6500	SO:0001583	missense	84072			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.574G>A	1.37:g.150679259C>T	ENSP00000355167:p.Gly192Ser		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253463	0.95336	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.54479	0.57;1.1;1.19;1.12	5.6	5.6	0.85130	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	M	0.90252	3.1	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	T	0.76748	-0.2845	10	0.45353	T	0.12	-18.6661	18.1798	0.89773	0.0:1.0:0.0:0.0	.	112;185;192	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	S	112;192;121;112;185;192;121;114	ENSP00000357991:G112S;ENSP00000357989:G192S;ENSP00000326489:G185S;ENSP00000355167:G192S	ENSP00000326489:G185S	G	-	1	0	HORMAD1	148945883	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.067000	0.76741	2.644000	0.89710	0.467000	0.42956	GGT		0.343	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		T	150679259	C	T	150679259	3	4	43	1	0	0	0	0	1	0	0	0	7286	652	23	1	634	1	HORMAD1	1	150679259	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	233744	150679259	98571362	60	3237											
SELENBP1	8991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	151339349	151339349	+	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	tcccatgtccccttcacctcGaacgtctccccatccagcag	7	9	5	20	2	2	0	1	0	1	0	7	1	5	0	7	0	2	1	7	0	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151339349G>A	ENST00000368868.5	-	6	604	c.513C>T	c.(511-513)ttC>ttT	p.F171F	SELENBP1_ENST00000426705.2_Silent_p.F213F|SELENBP1_ENST00000447402.3_Silent_p.F109F|SELENBP1_ENST00000435071.1_Silent_p.F107F|SELENBP1_ENST00000473693.1_5'Flank	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	171					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			CCTTCACCTCGAACGTCTCCC	0.582																																						.											0													180	155	163					1																	151339349		2203	4300	6503	SO:0001819	synonymous_variant	8991			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.513C>T	1.37:g.151339349G>A			A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	1.536	-0.542991	0.04053	.	.	ENSG00000143416	ENST00000424475	.	.	.	5.32	-4.56	0.03431	.	.	.	.	.	T	0.35682	0.0940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48725	-0.9010	4	.	.	.	-17.87	8.8363	0.35115	0.3795:0.1209:0.4996:0.0	.	.	.	.	L	132	.	.	S	-	2	0	SELENBP1	149605973	0.039000	0.19947	0.228000	0.23943	0.160000	0.22226	-0.624000	0.05540	-0.793000	0.04475	-0.367000	0.07326	TCG		0.582	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			A	151339349	G	A	151339349	2	1	43	1	0	0	0	0	0	0	0	1	14014	1049	37	1		1	SELENBP1	1	151339349	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	660090	151339349	97911272	61	3238											
POGZ	23126	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	151377515	151377515	+	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	ggtgagttaatgttgccatcGgggccaggcagaacactagc	10	8	14	9	1	0	2	0	1	0	1	1	2	0	2	2	4	3	3	2	4	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151377515G>A	ENST00000271715.2	-	19	4310	c.3996C>T	c.(3994-3996)ccC>ccT	p.P1332P	POGZ_ENST00000368863.2_Silent_p.P1237P|POGZ_ENST00000409503.1_Silent_p.P1323P|POGZ_ENST00000531094.1_Silent_p.P1270P|POGZ_ENST00000361398.3_Silent_p.P1279P|POGZ_ENST00000491586.1_Silent_p.P1288P|POGZ_ENST00000540984.1_Silent_p.P694P|POGZ_ENST00000392723.1_Silent_p.P1279P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1332					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)			TGTTGCCATCGGGGCCAGGCA	0.537											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											0													92	87	89					1																	151377515		2203	4300	6503	SO:0001819	synonymous_variant	23126			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.3996C>T	1.37:g.151377515G>A		1739	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	CCDS997.1																																																																																				0.537	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		A	151377515	G	A	151377515	2	1	43	1	0	0	0	0	0	0	0	1	12186	1103	39	1		1	POGZ	1	151377515	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	38166	151377515	97873106	62	3239											
SNX27	81609	broad.mit.edu	37	chr1	151641045	151641045	+	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	ttgaccattcgaaagtggctTtttacaacagaagaagaaat	16	11	8	6	1	0	4	0	1	0	3	1	5	0	4	1	1	2	1	1	1	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151641045T>C	ENST00000458013.2	+	7	1203	c.1083T>C	c.(1081-1083)ctT>ctC	p.L361L	SNX27_ENST00000368843.3_Silent_p.L361L|SNX27_ENST00000368838.1_Silent_p.L268L|SNX27_ENST00000482791.1_3'UTR			Q96L92	SNX27_HUMAN	sorting nexin family member 27	361	FERM-like region F1.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)			GAAAGTGGCTTTTTACAACAG	0.383																																					Colon(46;291 966 40145 41237 41888)	.											0													96	94	95					1																	151641045		2203	4300	6503	SO:0001819	synonymous_variant	81609			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.1083T>C	1.37:g.151641045T>C			Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37																																																																																					0.383	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		C	151641045	T	C	151641045	2	2	43	1	0	0	0	0	0	0	0	1	14897	1828	64	4		4	SNX27	1	151641045	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	263530	151641045	97609576	63	3240											
S100A4	6275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	153516294	153516294	+	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	gaattcgttacacatcatggCgatgcaggacaggaagacac	14	7	11	9	2	1	1	1	0	0	1	2	5	1	3	0	3	2	2	0	3	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:153516294C>T	ENST00000368716.4	-	3	394	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	S100A4_ENST00000481009.1_5'UTR|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000368715.1_Missense_Mutation_p.A83T|S100A4_ENST00000368714.1_Missense_Mutation_p.A83T|S100A4_ENST00000354332.4_Missense_Mutation_p.A83T|S100A5_ENST00000368718.1_5'Flank	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	CACATCATGGCGATGCAGGAC	0.517																																						.											0													227	207	214					1																	153516294		2203	4300	6503	SO:0001583	missense	6275			BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"S100 calcium binding proteins", "EF-hand domain containing"	10494	protein-coding gene	gene with protein product	"fibroblast-specific protein-1"	114210	"S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)", "S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.247G>A	1.37:g.153516294C>T	ENSP00000357705:p.Ala83Thr		A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	C	5.809	0.333474	0.11013	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.86	3.95	0.45737	EF-hand-like domain (1);	0.116893	0.64402	N	0.000018	T	0.01661	0.0053	N	0.05467	-0.045	0.37702	D	0.924244	B	0.30605	0.287	B	0.30401	0.115	T	0.31364	-0.9946	10	0.02654	T	1	.	9.0488	0.36363	0.0:0.8979:0.0:0.1021	.	83	P26447	S10A4_HUMAN	T	83;83;83;83;72	ENSP00000357704:A83T;ENSP00000346294:A83T;ENSP00000357705:A83T;ENSP00000357703:A83T	ENSP00000346294:A83T	A	-	1	0	S100A4	151782918	0.295000	0.24389	1.000000	0.80357	0.987000	0.75469	0.808000	0.27154	1.057000	0.40506	0.561000	0.74099	GCC		0.517	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		T	153516294	C	T	153516294	3	4	43	1	0	0	0	0	1	0	0	0	13780	768	27	1	62	1	S100A4	1	153516294	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1875249	153516294	95734327	64	3241											
UBAP2L	9898	broad.mit.edu	37	chr1	154209571	154209571	+	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	tggcaatagcagcggcaataCgtggaacaacactggccact	13	6	11	11	2	0	0	0	0	0	0	0	1	0	1	1	4	5	3	1	4	6	2	rs147740832		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:154209571C>T	ENST00000361546.2	+	7	704	c.662C>T	c.(661-663)aCg>aTg	p.T221M	UBAP2L_ENST00000271877.7_Missense_Mutation_p.T232M|UBAP2L_ENST00000343815.6_Missense_Mutation_p.T221M|UBAP2L_ENST00000428931.1_Missense_Mutation_p.T221M			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	221					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCGGCAATACGTGGAACAAC	0.408																																						.											0								C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	132	112	119		662,662	5.7	1	1	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	UBAP2L	NM_001127320.1,NM_014847.3	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	221/984,221/1088	154209571	1,13005	2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.662C>T	1.37:g.154209571C>T	ENSP00000355343:p.Thr221Met		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896345	0.91962	2.27E-4	0.0	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T	0.51817	2.56;2.53;2.55;0.78;0.75;0.78;0.69;2.53	5.68	5.68	0.88126	.	0.105567	0.64402	D	0.000004	T	0.54631	0.1870	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.965;0.996;0.996;0.994	T	0.56932	-0.7897	10	0.66056	D	0.02	-4.3154	18.7723	0.91898	0.0:1.0:0.0:0.0	.	135;232;214;221;221	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	M	221;221;232;221;232;214;221;221	ENSP00000345308:T221M;ENSP00000389445:T221M;ENSP00000271877:T232M;ENSP00000389052:T221M;ENSP00000357490:T232M;ENSP00000389717:T214M;ENSP00000415310:T221M;ENSP00000355343:T221M	ENSP00000271877:T232M	T	+	2	0	UBAP2L	152476195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	2.676000	0.91093	0.591000	0.81541	ACG		0.408	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		T	154209571	C	T	154209571	3	4	43	1	0	0	0	0	1	0	0	0	16835	536	19	1	688	1	UBAP2L	1	154209571	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	693277	154209571	95041050	65	3242											
YY1AP1	55249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	155629537	155629537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagagttgtttagagActcctggatgccctgaggga	10	9	16	6	0	0	3	0	1	0	2	1	7	1	6	2	4	1	2	2	4	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:155629537A>G	ENST00000295566.4	-	11	2325	c.2302T>C	c.(2302-2304)Tct>Cct	p.S768P	YY1AP1_ENST00000361831.5_Missense_Mutation_p.S711P|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S860P|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S568P|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S722P|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S722P|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S691P|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S722P|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.S840P|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S711P|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S691P|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S702P|MSTO1_ENST00000538143.1_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	768					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTGTTTAGAGACTCCTGGATG	0.498																																						.											0													110	111	111					1																	155629537		2203	4300	6503	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2302T>C	1.37:g.155629537A>G	ENSP00000295566:p.Ser768Pro		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	a	14.36	2.513648	0.44763	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.26660	1.77;1.77;1.79;1.77;1.77;1.75;1.77;1.77;1.79;1.79;1.72;1.8	2.42	-0.388	0.12459	.	0.999489	0.08099	N	0.998101	T	0.16642	0.0400	L	0.47716	1.5	0.09310	N	1	P;D;P;P;P	0.54964	0.539;0.969;0.914;0.919;0.898	B;P;P;B;B	0.58391	0.064;0.461;0.838;0.419;0.434	T	0.10337	-1.0634	10	0.62326	D	0.03	.	1.6973	0.02865	0.5284:0.0:0.1833:0.2883	.	860;702;768;722;840	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	P	711;722;691;722;711;840;768;722;691;702;860;568	ENSP00000352134:S711P;ENSP00000347686:S722P;ENSP00000311138:S691P;ENSP00000316079:S722P;ENSP00000355298:S711P;ENSP00000357324:S840P;ENSP00000295566:S768P;ENSP00000357314:S722P;ENSP00000385791:S691P;ENSP00000385390:S702P;ENSP00000357323:S860P;ENSP00000437926:S568P	ENSP00000295566:S768P	S	-	1	0	YY1AP1	153896161	0.001000	0.12720	0.018000	0.16275	0.378000	0.30076	0.223000	0.17719	0.181000	0.19994	0.260000	0.18958	TCT		0.498	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		G	155629537	A	G	155629537	3	3	43	1	0	0	0	0	1	0	0	0	17505	275	10	2	92	2	YY1AP1	1	155629537	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1419966	155629537	93621084	66	3243											
ARHGEF2	9181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	155921539	155921539	+	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	attcccatctcacctcttgcGgtgatctcagctgatttcca	7	14	6	14	1	3	2	2	2	3	0	7	2	5	2	3	1	2	1	3	1	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:155921539G>A	ENST00000361247.4	-	18	2300	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P779L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P706L|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P706L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P733L|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P735L|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	734					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P706Q(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACCTCTTGCGGTGATCTCAG	0.517																																					Melanoma(178;35 2768 6610 28839)	.											1	Substitution - Missense(1)	lung(1)											107	107	107					1																	155921539		2203	4300	6503	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2201C>T	1.37:g.155921539G>A	ENSP00000354837:p.Pro734Leu		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870583	0.33069	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.23	4.32	0.51571	.	0.000000	0.43110	D	0.000609	T	0.02888	0.0086	L	0.40543	1.245	0.49687	D	0.999811	B;B;B	0.29716	0.125;0.255;0.08	B;B;B	0.16722	0.008;0.016;0.016	T	0.36601	-0.9741	10	0.17832	T	0.49	-29.7262	9.7219	0.40308	0.0928:0.0:0.9072:0.0	.	778;734;733	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	L	706;734;735;706;733	ENSP00000315325:P706L;ENSP00000354837:P734L;ENSP00000357298:P735L;ENSP00000357299:P706L;ENSP00000314787:P733L	ENSP00000314787:P733L	P	-	2	0	ARHGEF2	154188163	1.000000	0.71417	0.990000	0.47175	0.727000	0.41649	4.930000	0.63462	1.435000	0.47434	0.655000	0.94253	CCG		0.517	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155921539	G	A	155921539	3	1	43	1	0	0	0	0	1	0	0	0	903	1116	39	1	779	1	ARHGEF2	1	155921539	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	292002	155921539	93329082	67	3244											
MRPL24	79590	hgsc.bcm.edu;bcgsc.ca	37	chr1	156708172	156708172	+	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	cgaccacccagtttcgctgcCggataacttgaaccactttg	9	10	8	14	3	0	1	0	1	0	0	1	3	0	2	4	1	3	2	4	1	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156708172C>T	ENST00000361531.2	-	3	378	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	MRPL24_ENST00000368211.4_Missense_Mutation_p.R81Q|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	81	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTTCGCTGCCGGATAACTTG	0.562																																						.											0													270	249	256					1																	156708172		2203	4300	6503	SO:0001583	missense	79590			AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"Mitochondrial ribosomal proteins / large subunits"	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.242G>A	1.37:g.156708172C>T	ENSP00000354525:p.Arg81Gln		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387886	0.61956	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	5.57	0.84162	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	P	0.58077	0.832	T	0.49254	-0.8959	9	0.20519	T	0.43	-21.3163	17.0489	0.86513	0.0:1.0:0.0:0.0	.	81	Q96A35	RM24_HUMAN	Q	81	.	ENSP00000354525:R81Q	R	-	2	0	MRPL24	154974796	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.069000	0.50026	2.633000	0.89246	0.650000	0.86243	CGG		0.562	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		T	156708172	C	T	156708172	3	4	43	1	0	0	0	0	1	0	0	0	9790	652	23	1	424	1	MRPL24	1	156708172	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	786633	156708172	92542449	68	3245											
SH2D2A	9047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	156785800	156785800	+	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	ccccaggtttccactcaccgCagtgtagcccaggttctggc	6	9	10	16	1	2	0	1	0	1	0	3	0	3	0	5	3	1	4	5	3	1	3	rs146718843	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156785800C>T	ENST00000368199.3	-	2	274	c.121G>A	c.(121-123)Gcg>Acg	p.A41T	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A41T|NTRK1_ENST00000392302.2_Intron|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A23T|SH2D2A_ENST00000495306.1_5'UTR	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	41					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)					CCACTCACCGCAGTGTAGCCC	0.602																																						.											0													68	66	66					1																	156785800		2203	4300	6503	SO:0001583	missense	9047			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.121G>A	1.37:g.156785800C>T	ENSP00000357182:p.Ala41Thr		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072670	0.20147	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.55413	0.54;0.52;0.95	4.81	0.587	0.17439	.	5.399390	0.00424	N	0.000064	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14805	0.011;0.002;0.003	B;B;B	0.09377	0.004;0.002;0.001	T	0.04885	-1.0920	10	0.20046	T	0.44	3.1443	2.9431	0.05837	0.317:0.4389:0.1541:0.0901	.	41;23;41	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	41;23;41	ENSP00000357182:A41T;ENSP00000357181:A23T;ENSP00000376123:A41T	ENSP00000357181:A23T	A	-	1	0	SH2D2A	155052424	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.397000	0.07269	0.024000	0.15214	0.655000	0.94253	GCG		0.602	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		T	156785800	C	T	156785800	3	4	43	1	0	0	0	0	1	0	0	0	14232	710	25	4	1106	4	SH2D2A	1	156785800	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	77628	156785800	92464821	69	3246											
INSRR	3645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	156814312	156814312	+	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	gagccattgccagccagtgaGgttgccctaaccctggcaga	9	7	12	13	0	0	2	0	1	0	1	0	3	0	2	5	2	5	2	5	2	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156814312G>T	ENST00000368195.3	-	14	3075	c.2679C>A	c.(2677-2679)acC>acA	p.T893T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	893	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCCAGTGAGGTTGCCCTAA	0.572																																						.											0													65	60	61					1																	156814312		2203	4300	6503	SO:0001819	synonymous_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2679C>A	1.37:g.156814312G>T			O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	CCDS1160.1																																																																																				0.572	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156814312	G	T	156814312	2	4	43	1	0	0	0	0	0	0	0	1	7774	987	35	5		5	INSRR	1	156814312	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	28512	156814312	92436309	70	3247											
IGSF9	57549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	159898623	159898623	+	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	cagtgggccccatcacaaagCgcccgtctgggccccggcaa	8	4	12	17	3	2	0	1	0	1	0	2	0	2	0	5	3	1	1	5	3	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:159898623C>T	ENST00000368094.1	-	19	2752	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H	IGSF9_ENST00000361509.3_Missense_Mutation_p.R836H|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	852	Pro-rich.				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)			CATCACAAAGCGCCCGTCTGG	0.692																																						.											0													5	6	6					1																	159898623		2125	4175	6300	SO:0001583	missense	57549			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.2555G>A	1.37:g.159898623C>T	ENSP00000357073:p.Arg852His			Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775958	0.90195	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.79033	-1.23;-1.17	5.15	5.15	0.70609	.	0.000000	0.38436	N	0.001699	D	0.83880	0.5350	M	0.66939	2.045	0.41370	D	0.987484	D	0.89917	1.0	D	0.83275	0.996	D	0.83801	0.0236	9	.	.	.	-16.8921	16.1159	0.81304	0.0:1.0:0.0:0.0	.	852	Q9P2J2	TUTLA_HUMAN	H	836;852	ENSP00000355049:R836H;ENSP00000357073:R852H	.	R	-	2	0	IGSF9	158165247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.908000	0.63307	2.378000	0.81104	0.655000	0.94253	CGC		0.692	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		T	159898623	C	T	159898623	3	4	43	1	0	0	0	0	1	0	0	0	7605	768	27	1	996	1	IGSF9	1	159898623	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3084311	159898623	89351998	71	3248											
PPOX	5498	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	161139815	161139815	+	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	gagcccatctgcctgtccagGtatgataaagggacggagag	11	7	14	9	1	1	2	0	1	1	1	2	5	2	3	3	3	2	1	3	3	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:161139815G>T	ENST00000367999.4	+	9	1253		c.e9+1		PPOX_ENST00000495483.1_Splice_Site|PPOX_ENST00000352210.5_Splice_Site|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTGTCCAGGTATGATAAAG	0.577																																						.											0													42	37	39					1																	161139815		2203	4300	6503	SO:0001630	splice_region_variant	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.987+1G>T	1.37:g.161139815G>T			D3DVG0|Q5VTW8	Splice_Site	SNP	ENST00000367999.4	37	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407846	0.42715	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935;ENST00000537829	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1667	0.48547	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPOX	159406439	1.000000	0.71417	0.993000	0.49108	0.633000	0.38033	6.684000	0.74538	2.005000	0.58758	0.305000	0.20034	.		0.577	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309	Intron	T	161139815	G	T	161139815	5	4	43	1	0	0	0	0	0	0	1	0	12348	1275	44	5	1018	5	PPOX	1	161139815	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1241192	161139815	88110806	72	3249											
DDR2	4921	hgsc.bcm.edu	37	chr1	162724541	162724541	+	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	ctctggtggggacccaggggCgccatgcaggaggtcatggc	6	6	18	11	1	2	0	1	0	1	0	2	2	2	2	2	8	1	1	2	8	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:162724541C>T	ENST00000367922.3	+	6	751	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	DDR2_ENST00000367921.3_Missense_Mutation_p.R105C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	105	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> S (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:16140923, ECO:0000269|PubMed:17344846}.		biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R105S(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GACCCAGGGGCGCCATGCAGG	0.547																																					NSCLC(161;314 2006 8283 19651 23192)	.											1	Substitution - Missense(1)	lung(1)											95	86	89					1																	162724541		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.313C>T	1.37:g.162724541C>T	ENSP00000356899:p.Arg105Cys		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770917	0.90108	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	5.78	4.87	0.63330	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	M	0.93375	3.41	0.42876	D	0.994153	D	0.89917	1.0	D	0.97110	1.0	D	0.99029	1.0820	9	0.87932	D	0	.	13.5351	0.61643	0.0:0.9249:0.0:0.0751	.	105	Q16832	DDR2_HUMAN	C	105	ENSP00000400309:R105C;ENSP00000391310:R105C;ENSP00000356899:R105C;ENSP00000356898:R105C	ENSP00000356898:R105C	R	+	1	0	DDR2	160991165	1.000000	0.71417	0.948000	0.38648	0.998000	0.95712	7.660000	0.83776	1.453000	0.47775	0.650000	0.86243	CGC		0.547	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		T	162724541	C	T	162724541	3	4	43	1	0	0	0	0	1	0	0	0	4337	768	27	1	323	1	DDR2	1	162724541	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1584726	162724541	86526080	73	3250											
DUSP27	92235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	167088687	167088687	+	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	tctgagttcctggatgaggcGctgctgacttacagaggtga	8	11	14	8	1	1	5	0	4	1	1	2	6	2	6	1	3	2	3	1	3	1	2	rs573463190		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:167088687G>A	ENST00000361200.2	+	5	805	c.639G>A	c.(637-639)gcG>gcA	p.A213A	DUSP27_ENST00000271385.5_Silent_p.A213A|DUSP27_ENST00000443333.1_Silent_p.A213A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	213	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A213A(1)		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						TGGATGAGGCGCTGCTGACTT	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		18581	0		0	False		,,,				2504	0					.											1	Substitution - coding silent(1)	lung(1)											81	69	73					1																	167088687		2203	4300	6503	SO:0001819	synonymous_variant	92235			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.639G>A	1.37:g.167088687G>A			A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.532	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167088687	G	A	167088687	2	1	43	1	0	0	0	0	0	0	0	1	4824	1074	38	1		1	DUSP27	1	167088687	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4364146	167088687	82161934	74	3251											
TBX19	9095	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	168282043	168282043	+	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	ccccaggagcatttctcctcGgaaacccagctgtgacttca	9	9	8	15	1	2	1	1	1	1	0	4	3	2	3	4	2	3	2	4	2	1	2	rs559696399		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:168282043G>A	ENST00000367821.3	+	8	1201	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	384					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ATTTCTCCTCGGAAACCCAGC	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		19641	0		0	False		,,,				2504	0					.											0													70	62	65					1																	168282043		2203	4300	6503	SO:0001583	missense	9095			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1150G>A	1.37:g.168282043G>A	ENSP00000356795:p.Gly384Arg		Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.256719|3.256719	0.59321|0.59321	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969;ENST00000441464	D|.	0.94537|.	-3.45|.	5.65|5.65	3.71|3.71	0.42584|0.42584	.|.	1.018940|.	0.07797|.	N|.	0.955850|.	T|T	0.43255|0.43255	0.1239|0.1239	M|M	0.70595|0.70595	2.14|2.14	.|.	.|.	.|.	P;P|.	0.51240|.	0.866;0.943|.	B;B|.	0.40982|.	0.239;0.345|.	T|T	0.47195|0.47195	-0.9136|-0.9136	9|4	0.26408|.	T|.	0.33|.	.|.	6.1328|6.1328	0.20215|0.20215	0.2943:0.0:0.7057:0.0|0.2943:0.0:0.7057:0.0	.|.	384;252|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	R|Q	384;261|253;216	ENSP00000356795:G384R|.	ENSP00000356795:G384R|.	G|R	+|+	1|2	0|0	TBX19|TBX19	166548667|166548667	0.998000|0.998000	0.40836|0.40836	0.421000|0.421000	0.26609|0.26609	0.467000|0.467000	0.32768|0.32768	1.330000|1.330000	0.33781|0.33781	1.299000|1.299000	0.44798|0.44798	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.652	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		A	168282043	G	A	168282043	3	1	43	1	0	0	0	0	1	0	0	0	15651	1117	39	1	1180	1	TBX19	1	168282043	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1193356	168282043	80968578	75	3252											
C1orf114	57821	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	169391220	169391220	+	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	ggtccttgaacttaagttttCgctcccttttatcattcacc	7	17	5	12	1	2	1	2	1	0	0	5	1	4	1	3	1	1	2	3	1	3	7	rs376964448		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:169391220C>T	ENST00000367806.3	-	3	601	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.R150Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.R150Q|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	150						nucleus (GO:0005634)											CTTAAGTTTTCGCTCCCTTTT	0.348																																						.											0								C	GLN/ARG	0,4406		0,0,2203	107	111	110		449	4.4	0.7	1		110	2,8598	2.2+/-6.3	0,2,4298	no	missense	C1orf114	NM_021179.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	150/509	169391220	2,13004	2203	4300	6503	SO:0001583	missense	57821			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.449G>A	1.37:g.169391220C>T	ENSP00000356780:p.Arg150Gln		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.365590	0.82463	0.0	2.33E-4	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.61040	0.14;0.14;0.14;0.29	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.76002	2.32	0.41703	D	0.989414	P;D;D	0.89917	0.931;1.0;1.0	B;D;D	0.91635	0.291;0.999;0.999	T	0.75476	-0.3304	9	0.87932	D	0	-9.2924	13.8307	0.63380	0.0:0.9263:0.0:0.0737	.	150;150;150	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	150	ENSP00000356779:R150Q;ENSP00000356780:R150Q;ENSP00000442297:R150Q;ENSP00000411000:R150Q	ENSP00000356779:R150Q	R	-	2	0	C1orf114	167657844	0.415000	0.25416	0.669000	0.29828	0.974000	0.67602	6.057000	0.71119	1.249000	0.43950	0.563000	0.77884	CGA		0.348	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		T	169391220	C	T	169391220	3	4	43	1	0	0	0	0	1	0	0	0	1987	884	31	1	1093	1	C1orf114	1	169391220	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1109177	169391220	79859401	76	3253											
TOR3A	64222	ucsc.edu;mdanderson.org	37	chr1	179057117	179057117	+	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	ctgttcatcttcgatgaagcGgagaagctgcacccagggct	9	9	12	11	2	2	2	1	1	1	1	3	4	2	2	1	2	3	4	1	2	2	2	rs12092348	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179057117G>A	ENST00000367627.3	+	4	1463	c.711G>A	c.(709-711)gcG>gcA	p.A237A	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.A237A	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	237					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCGATGAAGCGGAGAAGCTGC	0.612													G|||	79	0.0157748	0.0552	0.0058	5008	,	,		16403	0.002		0	False		,,,				2504	0					.											0								G		229,4177	137.3+/-173.1	6,217,1980	68	74	72		711	-10.7	0	1	dbSNP_120	72	0,8600		0,0,4300	no	coding-synonymous	TOR3A	NM_022371.3		6,217,6280	AA,AG,GG		0.0,5.1975,1.7607		237/398	179057117	229,12777	2203	4300	6503	SO:0001819	synonymous_variant	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.711G>A	1.37:g.179057117G>A			B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	ENST00000367627.3	37	CCDS1329.1																																																																																				0.612	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		A	179057117	G	A	179057117	2	1	43	1	0	0	0	0	0	0	0	1	16373	1103	39	1		1	TOR3A	1	179057117	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9665897	179057117	70193504	77	3254											
C1orf125	126859	hgsc.bcm.edu	37	chr1	179494565	179494568	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															ggaaacttcaggaggaaaatAaagagagagcagaagaagta																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179494565_179494568delAAAG	ENST00000367618.3	+	22	2980_2983	c.2593_2596delAAAG	c.(2593-2598)aaagagfs	p.KE865fs		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	865	Glu-rich.									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						GGAGGAAAATAAAGAGAGAGCAGA	0.358																																						.											0																																										SO:0001589	frameshift_variant	126859			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.2593_2596delAAAG	1.37:g.179494565_179494568delAAAG	ENSP00000356590:p.Lys865fs		Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		-	179494568	AAAG	-	179494565	7	5	43	1	0	1	0	1	0	0	0	0	1993	363	13	0	2675	0	C1orf125	1	179494565	Frame_Shift_Del	DEL	AAAG	TCGA-KN-8428-01A-11D-2310-10	437448	179494565	69756056	78	3255	94	2									
C1orf125	126859	bcgsc.ca	37	chr1	179494566	179494569	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															gaaacttcaggaggaaaataAagagagagcagaagaagtaa																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179494566_179494569delAAAG	ENST00000367618.3	+	22	2981_2984	c.2594_2597delAAAG	c.(2593-2598)aaaaggfs	p.KR865fs		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	865	Glu-rich.									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						GAGGAAAATAAAGAGAGAGCAGAA	0.358																																						.											0																																										SO:0001589	frameshift_variant	126859			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.2594_2597delAAAG	1.37:g.179494566_179494569delAAAG	ENSP00000356590:p.Lys865fs		Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		-	179494569	AAAG	-	179494566	7	5	43	1	0	1	0	1	0	0	0	0	1993	14	1	0	2676	0	C1orf125	1	179494566	Frame_Shift_Del	DEL	AAAG	TCGA-KN-8428-01A-11D-2310-10	1	179494566	69756055	79	3256	94	2									
QSOX1	5768	broad.mit.edu;hgsc.bcm.edu	37	chr1	180135639	180135639	+	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	ctttcagcctggaggccggcCctgtatctcgccgccctgga	4	9	12	16	3	2	0	1	0	1	0	3	2	2	2	5	4	1	1	5	4	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:180135639C>A	ENST00000367602.3	+	2	353	c.279C>A	c.(277-279)gcC>gcA	p.A93A	QSOX1_ENST00000367600.5_Silent_p.A93A			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	93	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGGCCGGCCCTGTATCTCG	0.592																																						.											0													76	72	73					1																	180135639		2203	4300	6503	SO:0001819	synonymous_variant	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.279C>A	1.37:g.180135639C>A			Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	CCDS1337.1																																																																																				0.592	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		A	180135639	C	A	180135639	2	1	43	1	0	0	0	0	0	0	0	1	12883	610	22	5		5	QSOX1	1	180135639	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	641073	180135639	69114982	80	3257											
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	186289518	186289518	+	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	tatcttcaggtggcccaaacCggaatctagggacaccagca	12	7	10	12	1	3	0	1	0	2	0	3	2	3	2	3	4	2	1	3	4	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:186289518C>T	ENST00000367478.4	-	46	6790	c.6494G>A	c.(6493-6495)cGg>cAg	p.R2165Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2165					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)		TGGCCCAAACCGGAATCTAGG	0.403			T	NTRK1	papillary thyroid																																	.		Dom	yes		1	1q25	7175	translocated promoter region		E	0													82	74	77					1																	186289518		1856	4088	5944	SO:0001583	missense	7175			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.6494G>A	1.37:g.186289518C>T	ENSP00000356448:p.Arg2165Gln		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541373	0.96474	.	.	ENSG00000047410	ENST00000367478	T	0.26067	1.76	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	M	0.71581	2.175	0.58432	D	0.999996	D	0.76494	0.999	P	0.56751	0.805	T	0.50268	-0.8848	10	0.87932	D	0	.	19.2507	0.93923	0.0:1.0:0.0:0.0	.	2165	P12270	TPR_HUMAN	Q	2165	ENSP00000356448:R2165Q	ENSP00000356448:R2165Q	R	-	2	0	TPR	184556141	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.924000	0.75823	2.538000	0.85594	0.563000	0.77884	CGG		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		T	186289518	C	T	186289518	3	4	43	1	0	0	0	0	1	0	0	0	16413	652	23	1	621	1	TPR	1	186289518	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6153879	186289518	62961103	81	3258											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	201029943	201029943	+	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	gggcatactgtacacattggCgctgtgacacatacaacagg	12	8	11	10	1	0	1	0	1	0	0	0	1	0	1	0	3	4	3	0	3	4	4	rs1800559		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:201029943C>T	ENST00000362061.3	-	26	3483	c.3257G>A	c.(3256-3258)cGc>cAc	p.R1086H	CACNA1S_ENST00000367338.3_Splice_Site_p.R1086H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1086			R -> H (in MHS5; dbSNP:rs1800559). {ECO:0000269|PubMed:9199552}.		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)	p.R1086H(1)		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)	TACACATTGGCGCTGTGACAC	0.562																																						.											1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM970210	CACNA1S	M	rs1800559						211	204	206					1																	201029943		2203	4300	6503	SO:0001630	splice_region_variant	779			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.3256-1G>A	1.37:g.201029943C>T			A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044776	0.55110	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96885	-4.16;-4.08	5.17	4.26	0.50523	.	0.152379	0.64402	D	0.000015	D	0.98460	0.9487	M	0.93638	3.44	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.87932	D	0	.	13.6178	0.62120	0.0:0.9234:0.0:0.0766	rs1800559;rs28931587	1086	Q13698	CAC1S_HUMAN	H	1086	ENSP00000355192:R1086H;ENSP00000356307:R1086H	ENSP00000355192:R1086H	R	-	2	0	CACNA1S	199296566	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	7.774000	0.85478	1.297000	0.44761	-0.136000	0.14681	CGC		0.562	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	Missense_Mutation	T	201029943	C	T	201029943	5	4	43	1	0	0	0	0	0	0	1	0	2547	782	27	1	2440	1	CACNA1S	1	201029943	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	14740425	201029943	48220678	82	3259											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr1	201060823	201060823	+	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	cccttgaagagctccagcccGatgatggcatagatgatgac	11	8	11	11	1	0	6	0	4	0	2	1	7	1	6	3	1	2	2	3	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:201060823G>A	ENST00000362061.3	-	5	865	c.639C>T	c.(637-639)atC>atT	p.I213I	CACNA1S_ENST00000367338.3_Silent_p.I213I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	213					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)	GCTCCAGCCCGATGATGGCAT	0.567																																						.											0													115	99	105					1																	201060823		2203	4300	6503	SO:0001819	synonymous_variant	779			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.639C>T	1.37:g.201060823G>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201060823	G	A	201060823	2	1	43	1	0	0	0	0	0	0	0	1	2547	1048	37	1		1	CACNA1S	1	201060823	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	30880	201060823	48189798	83	3260											
CNTN2	6900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	205041226	205041226	+	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	ccgggctggcactgggcctgCcagcccttctgccaacgcca	5	6	12	18	2	1	0	0	0	1	0	1	0	1	0	6	3	4	2	6	3	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:205041226C>T	ENST00000331830.4	+	20	2980	c.2696C>T	c.(2695-2697)gCc>gTc	p.A899V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	899	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTGGGCCTGCCAGCCCTTCT	0.627																																					Melanoma(183;2548 2817 37099 41192)	.											0													79	81	80					1																	205041226		2203	4300	6503	SO:0001583	missense	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2696C>T	1.37:g.205041226C>T	ENSP00000330633:p.Ala899Val		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	c	35	5.582083	0.96578	.	.	ENSG00000184144	ENST00000331830	T	0.17370	2.28	5.69	5.69	0.88448	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.292700	0.24087	U	0.041661	T	0.36663	0.0975	L	0.58583	1.82	0.40376	D	0.97939	B;D	0.54207	0.277;0.965	P;P	0.59221	0.474;0.854	T	0.01188	-1.1424	10	0.38643	T	0.18	.	19.4013	0.94630	0.0:1.0:0.0:0.0	.	899;790	Q02246;Q68DA2	CNTN2_HUMAN;.	V	899	ENSP00000330633:A899V	ENSP00000330633:A899V	A	+	2	0	CNTN2	203307849	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.768000	0.85345	2.683000	0.91414	0.651000	0.88453	GCC		0.627	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		T	205041226	C	T	205041226	3	4	43	1	0	0	0	0	1	0	0	0	3641	739	26	3	2770	3	CNTN2	1	205041226	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3980403	205041226	44209395	84	3261											
PLXNA2	5362	broad.mit.edu;bcgsc.ca	37	chr1	208383788	208383788	+	Missense_Mutation	SNP	T	T	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	tgatgtccagtccacagaagTtatcatcgatggggacaggc	11	9	12	9	1	1	2	1	1	0	1	4	4	3	3	2	3	0	1	2	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:208383788T>C	ENST00000367033.3	-	3	1965	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	403	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		TCCACAGAAGTTATCATCGAT	0.577																																						.											0													65	57	60					1																	208383788		2203	4300	6503	SO:0001583	missense	5362			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.1208A>G	1.37:g.208383788T>C	ENSP00000356000:p.Asn403Ser		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466119	0.43839	.	.	ENSG00000076356	ENST00000367033	T	0.10860	2.83	5.53	3.19	0.36642	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.341026	0.31909	N	0.006873	T	0.07728	0.0194	L	0.33485	1.01	0.36246	D	0.853606	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.002	T	0.15809	-1.0424	10	0.42905	T	0.14	.	5.3898	0.16237	0.0:0.1449:0.1517:0.7034	.	457;403	O75051-2;O75051	.;PLXA2_HUMAN	S	403	ENSP00000356000:N403S	ENSP00000356000:N403S	N	-	2	0	PLXNA2	206450411	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.567000	0.36407	0.903000	0.36546	0.533000	0.62120	AAC		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208383788	T	C	208383788	3	2	43	1	0	0	0	0	1	0	0	0	12120	1725	60	2	4596	2	PLXNA2	1	208383788	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3342562	208383788	40866833	85	3262											
CDC42BPA	8476	ucsc.edu;bcgsc.ca	37	chr1	227504801	227504801	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatccagtaatgtctccAcactgaagcactgcccattg	11	11	7	12	0	1	1	0	1	1	0	3	1	2	1	3	0	2	3	3	0	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:227504801A>G	ENST00000366769.3	-	1	1374	c.83T>C	c.(82-84)gTg>gCg	p.V28A	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.V28A|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.V28A	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)				TAATGTCTCCACACTGAAGCA	0.448																																						.											0													133	119	124					1																	227504801		2203	4300	6503	SO:0001583	missense	8476			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.83T>C	1.37:g.227504801A>G	ENSP00000355731:p.Val28Ala			Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659730	0.88154	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68025	-0.28;-0.22;-0.3;-0.29;-0.3;-0.26;-0.3	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	M	0.79475	2.455	0.58432	D	0.999993	P;P;P;P	0.46578	0.878;0.84;0.801;0.88	P;P;B;P	0.49301	0.584;0.538;0.428;0.606	T	0.77920	-0.2407	10	0.51188	T	0.08	.	14.6849	0.69042	1.0:0.0:0.0:0.0	.	28;28;28;28	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	A	28	ENSP00000355731:V28A;ENSP00000355729:V28A;ENSP00000335341:V28A;ENSP00000355728:V28A;ENSP00000355726:V28A;ENSP00000443275:V28A;ENSP00000355727:V28A	ENSP00000335341:V28A	V	-	2	0	CDC42BPA	225571424	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.880000	0.92407	1.932000	0.55993	0.460000	0.39030	GTG		0.448	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		G	227504801	A	G	227504801	3	3	43	1	0	0	0	0	1	0	0	0	3072	159	6	2	5220	2	CDC42BPA	1	227504801	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	19121013	227504801	21745820	86	3263											
JMJD4	65094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	227921193	227921193	+	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	tgcgtgatctccaagggtggGccagcaagctggttccgtgg	6	9	16	10	2	1	1	0	1	1	0	3	1	2	1	3	4	3	3	3	4	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:227921193G>A	ENST00000366758.3	-	4	881	c.882C>T	c.(880-882)ggC>ggT	p.G294G	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Silent_p.G294G|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	294	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CCAAGGGTGGGCCAGCAAGCT	0.642																																						.											0													69	55	60					1																	227921193		2201	4300	6501	SO:0001819	synonymous_variant	65094			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.882C>T	1.37:g.227921193G>A			Q5TBZ1|Q5TBZ6|Q9H970	Silent	SNP	ENST00000366758.3	37	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	.	1.828	-0.470611	0.04445	.	.	ENSG00000081692	ENST00000438896	.	.	.	4.5	1.43	0.22495	.	.	.	.	.	T	0.51193	0.1660	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39941	-0.9589	4	.	.	.	-14.187	4.7081	0.12860	0.2132:0.0:0.612:0.1748	.	.	.	.	V	287	.	.	A	-	2	0	JMJD4	225987816	1.000000	0.71417	0.031000	0.17742	0.214000	0.24535	0.895000	0.28363	0.554000	0.29061	0.655000	0.94253	GCC		0.642	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		A	227921193	G	A	227921193	2	1	43	1	0	0	0	0	0	0	0	1	7951	1190	42	3		3	JMJD4	1	227921193	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	416392	227921193	21329428	87	3264											
TARBP1	6894	broad.mit.edu	37	chr1	234527364	234527364	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagcagctgctgcctggTgtactcccagatcagcaggg	8	7	14	12	1	1	2	1	0	0	2	2	3	2	2	2	2	6	5	2	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:234527364T>C	ENST00000040877.1	-	30	4824	c.4825A>G	c.(4825-4827)Acc>Gcc	p.T1609A	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1609					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGCTGCCTGGTGTACTCCCAG	0.488																																						.											0													64	55	58					1																	234527364		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4825A>G	1.37:g.234527364T>C	ENSP00000040877:p.Thr1609Ala		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342560	0.24339	.	.	ENSG00000059588	ENST00000040877	T	0.28454	1.61	5.47	4.34	0.51931	.	0.056427	0.64402	N	0.000001	T	0.19446	0.0467	N	0.21448	0.665	0.58432	D	0.999999	B	0.30193	0.272	B	0.22386	0.039	T	0.03717	-1.1010	10	0.39692	T	0.17	-15.7136	11.2194	0.48846	0.0:0.0722:0.0:0.9278	.	1609	Q13395	TARB1_HUMAN	A	1609	ENSP00000040877:T1609A	ENSP00000040877:T1609A	T	-	1	0	TARBP1	232593987	1.000000	0.71417	0.352000	0.25734	0.253000	0.25986	5.114000	0.64648	0.916000	0.36871	0.482000	0.46254	ACC		0.488	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		C	234527364	T	C	234527364	3	2	43	1	0	0	0	0	1	0	0	0	15552	1696	59	2	44	2	TARBP1	1	234527364	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	6606171	234527364	14723257	88	3265											
HEATR1	55127	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	236762781	236762781	+	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	atatgtcattcagcaattatAccttaactggcaacaaccag	15	11	5	10	0	2	0	2	0	0	0	2	0	2	0	2	1	5	2	2	1	7	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:236762781A>G	ENST00000366582.3	-	4	616		c.e4+1		HEATR1_ENST00000483073.1_Splice_Site|HEATR1_ENST00000366581.2_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAGCAATTATACCTTAACTGG	0.353																																						.											0													83	80	81					1																	236762781		2203	4300	6503	SO:0001630	splice_region_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.501+1T>C	1.37:g.236762781A>G			Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658177	0.47467	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5903	0.76523	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR1	234829404	1.000000	0.71417	0.994000	0.49952	0.558000	0.35554	7.087000	0.76893	2.128000	0.65567	0.459000	0.35465	.		0.353	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	Intron	G	236762781	A	G	236762781	5	3	43	1	0	0	0	0	0	0	1	0	7027	405	14	2	6099	2	HEATR1	1	236762781	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2235417	236762781	12487840	89	3266											
NLRP3	114548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	247587215	247587215	+	Missense_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	cattgaagacaggaatgcccGtctgggtgagagtgtgagcc	10	8	15	8	1	1	4	0	3	1	2	1	6	1	5	2	2	2	0	2	2	2	1	rs533920557		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:247587215G>A	ENST00000336119.3	+	3	1216	c.470G>A	c.(469-471)cGt>cAt	p.R157H	NLRP3_ENST00000366497.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H|NLRP3_ENST00000474792.1_3'UTR	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	157					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)	p.R157H(2)		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)			AGGAATGCCCGTCTGGGTGAG	0.522													G|||	1	0.000199681	0	0	5008	,	,		21031	0.001		0	False		,,,				2504	0					.											2	Substitution - Missense(2)	prostate(1)|endometrium(1)											95	75	82					1																	247587215		2203	4300	6503	SO:0001583	missense	114548			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.470G>A	1.37:g.247587215G>A	ENSP00000337383:p.Arg157His		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359037	0.61403	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.27	4.27	0.50696	.	0.000000	0.51477	D	0.000081	D	0.92319	0.7563	M	0.71206	2.165	0.33532	D	0.593746	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.958	D;D;D;D;P	0.97110	0.917;0.975;1.0;0.924;0.585	D	0.90744	0.4652	10	0.15066	T	0.55	.	12.5127	0.56015	0.0:0.0:1.0:0.0	.	157;157;157;157;157	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	157	ENSP00000375704:R157H;ENSP00000355453:R157H;ENSP00000337383:R157H;ENSP00000294752:R157H;ENSP00000355452:R157H;ENSP00000375703:R157H	ENSP00000337383:R157H	R	+	2	0	NLRP3	245653838	0.043000	0.20138	0.997000	0.53966	0.916000	0.54674	2.089000	0.41672	2.669000	0.90835	0.655000	0.94253	CGT		0.522	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247587215	G	A	247587215	3	1	43	1	0	0	0	0	1	0	0	0	10478	1145	40	1	480	1	NLRP3	1	247587215	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	10824434	247587215	1663406	90	3267											
TRIM58	25893	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	248031300	248031300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctggaagcagagaacaTccccatggaactgaagacag	16	4	12	9	0	0	3	0	1	0	2	1	6	1	5	2	3	3	2	2	3	5	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248031300T>C	ENST00000366481.3	+	5	854	c.806T>C	c.(805-807)aTc>aCc	p.I269T	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	269						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGAACATCCCCATGGAA	0.532																																						.											0													103	94	97					1																	248031300		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.806T>C	1.37:g.248031300T>C	ENSP00000355437:p.Ile269Thr		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	T	3.105	-0.183845	0.06340	.	.	ENSG00000162722	ENST00000366481	T	0.05996	3.36	5.12	3.98	0.46160	.	0.359505	0.23849	N	0.043970	T	0.05640	0.0148	L	0.38692	1.165	0.22401	N	0.999132	B	0.14438	0.01	B	0.12156	0.007	T	0.34925	-0.9809	10	0.30078	T	0.28	.	7.9931	0.30252	0.0:0.0946:0.0:0.9054	.	269	Q8NG06	TRI58_HUMAN	T	269	ENSP00000355437:I269T	ENSP00000355437:I269T	I	+	2	0	TRIM58	246097923	0.005000	0.15991	0.006000	0.13384	0.059000	0.15707	1.574000	0.36482	1.039000	0.40074	0.533000	0.62120	ATC		0.532	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		C	248031300	T	C	248031300	3	2	43	1	0	0	0	0	1	0	0	0	16528	1435	50	4	824	4	TRIM58	1	248031300	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	444085	248031300	1219321	91	3268											
OR2M3	127062	broad.mit.edu;bcgsc.ca	37	chr1	248366613	248366613	+	Missense_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	gcaccaccgtacccaagatgGccttcaactacctgtctggc	9	8	8	16	1	2	1	1	0	1	1	2	1	2	1	5	2	3	2	5	2	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248366613G>A	ENST00000456743.1	+	1	282	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCCAAGATGGCCTTCAACTA	0.512																																						.											0													270	262	265					1																	248366613		2203	4297	6500	SO:0001583	missense	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.244G>A	1.37:g.248366613G>A	ENSP00000389625:p.Ala82Thr		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287757	0.23478	.	.	ENSG00000228198	ENST00000456743	T	0.00325	8.1	2.44	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31976	U	0.006763	T	0.00178	0.0005	M	0.64170	1.965	0.09310	N	1	B	0.19706	0.038	B	0.27715	0.082	T	0.50083	-0.8869	10	0.34782	T	0.22	.	0.0794	0.00030	0.296:0.166:0.2028:0.3352	.	82	Q8NG83	OR2M3_HUMAN	T	82	ENSP00000389625:A82T	ENSP00000389625:A82T	A	+	1	0	OR2M3	246433236	0.000000	0.05858	0.001000	0.08648	0.251000	0.25915	-2.471000	0.00990	-0.058000	0.13177	-0.491000	0.04670	GCC		0.512	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		A	248366613	G	A	248366613	3	1	43	1	0	0	0	0	1	0	0	0	11011	1203	42	3	246	3	OR2M3	1	248366613	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	335313	248366613	884008	92	3269											
PGBD2	267002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	249211775	249211775	+	Missense_Mutation	SNP	T	T	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	ggatctaggaggcagtatggTaataaaatttgtggatgcgc	12	11	14	4	1	1	0	0	0	1	0	1	3	1	3	0	5	1	3	0	5	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:249211775T>C	ENST00000329291.5	+	3	1139	c.992T>C	c.(991-993)gTa>gCa	p.V331A	PGBD2_ENST00000539153.1_Missense_Mutation_p.V328A|PGBD2_ENST00000355360.4_Missense_Mutation_p.V80A	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	331										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)			GGCAGTATGGTAATAAAATTT	0.458																																						.											0													126	129	128					1																	249211775		2203	4300	6503	SO:0001583	missense	267002			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.992T>C	1.37:g.249211775T>C	ENSP00000331643:p.Val331Ala		B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842924	0.51057	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.25085	1.82;1.82;1.82	3.91	3.91	0.45181	.	0.126959	0.32578	N	0.005910	T	0.48840	0.1522	M	0.80616	2.505	0.29977	N	0.818056	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.49943	-0.8885	10	0.49607	T	0.09	-17.4516	9.3396	0.38071	0.0:0.0:0.0:1.0	.	328;331	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	A	80;331;328	ENSP00000355424:V80A;ENSP00000331643:V331A;ENSP00000439950:V328A	ENSP00000331643:V331A	V	+	2	0	PGBD2	247178398	1.000000	0.71417	0.630000	0.29268	0.660000	0.38997	3.412000	0.52679	1.765000	0.52091	0.460000	0.39030	GTA		0.458	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			C	249211775	T	C	249211775	3	2	43	1	0	0	0	0	1	0	0	0	11781	1638	57	2	998	2	PGBD2	1	249211775	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	845162	249211775	38846	93	3270											
MYT1L	23040	hgsc.bcm.edu;mdanderson.org	37	chr2	1896005	1896005	+	Missense_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	ggttgctgctgctgctgggcGcgtagctgctggtgctgctg	1	12	18	10	2	0	0	0	0	0	0	0	0	0	0	0	3	8	10	0	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:1896005G>A	ENST00000399161.2	-	15	2834	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	MYT1L_ENST00000428368.2_Missense_Mutation_p.A694V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	696	Ser-rich.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		gctgctgggcgcgtagctgct	0.692																																						.											0													9	17	14					2																	1896005		1695	3114	4809	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2087C>T	2.37:g.1896005G>A	ENSP00000382114:p.Ala696Val		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	17.50	3.403971	0.62288	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.36878	1.23;1.23	4.93	4.93	0.64822	Myelin transcription factor 1 (1);	0.769532	0.12417	N	0.470758	T	0.38585	0.1046	M	0.62723	1.935	0.58432	D	0.999998	B;B	0.29115	0.233;0.098	B;B	0.15484	0.013;0.008	T	0.23619	-1.0183	10	0.32370	T	0.25	-8.1458	18.1375	0.89624	0.0:0.0:1.0:0.0	.	696;694	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	696;642;694	ENSP00000382114:A696V;ENSP00000396103:A694V	ENSP00000295067:A642V	A	-	2	0	MYT1L	1875012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.236000	0.78154	2.298000	0.77334	0.467000	0.42956	GCG		0.692	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1896005	G	A	1896005	3	1	43	1	0	0	0	0	1	0	0	0	10107	1087	38	1	1517	1	MYT1L	2	1896005	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		1896005	241303368	94	3271											
NT5C1B	93034	ucsc.edu;mdanderson.org	37	chr2	18745215	18745215	+	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	ccagcaaggaaaagagcttcGtctatctctagaccccagcg	12	7	9	13	2	2	2	0	0	2	2	4	3	2	3	3	1	3	2	3	1	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:18745215G>A	ENST00000359846.2	-	10	1757	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D	NT5C1B_ENST00000600945.1_Silent_p.D560D|NT5C1B_ENST00000304081.4_Silent_p.D500D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D560D	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	560					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)				AAAGAGCTTCGTCTATCTCTA	0.537																																						.											0													83	83	83					2																	18745215		2203	4300	6503	SO:0001819	synonymous_variant	93034			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.1680C>T	2.37:g.18745215G>A			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278623	0.23307	.	.	ENSG00000185013	ENST00000418427	.	.	.	6.16	-2.76	0.05896	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.4387	13.609	0.62065	0.6484:0.0:0.3516:0.0	.	.	.	.	X	215	.	.	R	-	1	2	NT5C1B	18608696	0.853000	0.29707	0.986000	0.45419	0.998000	0.95712	-0.017000	0.12590	-0.319000	0.08652	0.650000	0.86243	CGA		0.537	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			A	18745215	G	A	18745215	2	1	43	1	0	0	0	0	0	0	0	1	10686	1136	40	1		1	NT5C1B	2	18745215	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16849210	18745215	224454158	95	3272											
GDF7	151449	broad.mit.edu	37	chr2	20871061	20871061	+	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	ctccatggcaccagacgcggCgccggcctcctgctgtgtgc	4	7	13	17	4	0	1	0	0	0	1	2	1	2	1	5	3	2	2	5	3	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:20871061C>T	ENST00000272224.3	+	2	1805	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	410					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)					CCAGACGCGGCGCCGGCCTCC	0.612																																						.											0													65	58	60					2																	20871061		2203	4300	6503	SO:0001583	missense	151449			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.1229C>T	2.37:g.20871061C>T	ENSP00000272224:p.Ala410Val			Missense_Mutation	SNP	ENST00000272224.3	37	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827491	0.90955	.	.	ENSG00000143869	ENST00000272224	T	0.61742	0.08	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.105770	0.39341	U	0.001385	T	0.26810	0.0656	N	0.00424	-1.51	0.37148	D	0.902031	P	0.51147	0.942	B	0.41691	0.364	T	0.57323	-0.7831	10	0.51188	T	0.08	.	16.7259	0.85421	0.0:1.0:0.0:0.0	.	410	Q7Z4P5	GDF7_HUMAN	V	410	ENSP00000272224:A410V	ENSP00000272224:A410V	A	+	2	0	GDF7	20734542	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.781000	0.62389	2.187000	0.69744	0.561000	0.74099	GCG		0.612	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		T	20871061	C	T	20871061	3	4	43	1	0	0	0	0	1	0	0	0	6318	768	27	1	1235	1	GDF7	2	20871061	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2125846	20871061	222328312	96	3273											
DTNB	1838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	25799755	25799755	+	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	tggttgctgtgagggccgccGgcatggccacgccaaaagca	8	6	15	12	3	0	1	0	1	0	0	0	1	0	1	4	4	2	4	4	4	2	1	rs373794202		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:25799755G>A	ENST00000406818.3	-	8	1077	c.828C>T	c.(826-828)gcC>gcT	p.A276A	DTNB_ENST00000404103.3_Silent_p.A276A|DTNB_ENST00000407038.3_Silent_p.A276A|DTNB_ENST00000407186.1_Silent_p.A276A|DTNB_ENST00000407661.3_Silent_p.A276A|DTNB_ENST00000545439.1_Silent_p.A72A|DTNB_ENST00000288642.8_Silent_p.A276A|DTNB_ENST00000405222.1_Silent_p.A276A|DTNB_ENST00000496972.2_Silent_p.A219A|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	276						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)					GAGGGCCGCCGGCATGGCCAC	0.527																																						.											0								G	,,,,	0,4258		0,0,2129	46	51	49		828,828,828,828,828	4.9	1	2		49	2,8522		0,2,4260	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	,,,,	0,2,6389	AA,AG,GG		0.0235,0.0,0.0156	,,,,	276/628,276/598,276/568,276/610,276/561	25799755	2,12780	2129	4262	6391	SO:0001819	synonymous_variant	1838			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.828C>T	2.37:g.25799755G>A			B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	CCDS46237.1																																																																																				0.527	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		A	25799755	G	A	25799755	2	1	43	1	0	0	0	0	0	0	0	1	4789	1103	39	1		1	DTNB	2	25799755	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4928694	25799755	217399618	97	3274											
C2orf16	84226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	27802448	27802448	+	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	ataaagaagacaaactcaacGttcaatggtatatcccaaga	19	8	6	8	1	2	3	2	0	0	3	3	3	3	3	1	1	2	2	1	1	9	4	rs370553692		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:27802448G>A	ENST00000408964.2	+	1	3060	c.3009G>A	c.(3007-3009)acG>acA	p.T1003T	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1003						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)					CAAACTCAACGTTCAATGGTA	0.443													G|||	1	0.000199681	0	0	5008	,	,		20637	0.001		0	False		,,,				2504	0					.											0								G		0,4088		0,0,2044	102	100	101		3009	2.1	0	2		101	1,8401		0,1,4200	no	coding-synonymous	C2orf16	NM_032266.3		0,1,6244	AA,AG,GG		0.0119,0.0,0.0080		1003/1985	27802448	1,12489	2044	4201	6245	SO:0001819	synonymous_variant	84226			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.3009G>A	2.37:g.27802448G>A			B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																				0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		A	27802448	G	A	27802448	2	1	43	1	0	0	0	0	0	0	0	1	2157	1132	40	1		1	C2orf16	2	27802448	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2002693	27802448	215396925	98	3275											
EHD3	30845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	31484520	31484520	+	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	acctggccgagatctatggcCggatcgagcgggagcaccag	9	5	15	12	4	1	1	0	0	1	1	2	5	1	3	4	4	2	1	4	4	1	1	rs370790409		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:31484520C>T	ENST00000322054.5	+	5	1306	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	341					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GATCTATGGCCGGATCGAGCG	0.572																																						.											0								C	TRP/ARG	0,4406		0,0,2203	129	123	125		1021	4.1	0.7	2		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	EHD3	NM_014600.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	341/536	31484520	1,13005	2203	4300	6503	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1021C>T	2.37:g.31484520C>T	ENSP00000327116:p.Arg341Trp		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437362	0.62955	0.0	1.16E-4	ENSG00000013016	ENST00000322054	T	0.18174	2.23	6.04	4.08	0.47627	.	0.093728	0.64402	D	0.000001	T	0.24314	0.0589	M	0.65498	2.005	0.80722	D	1	D	0.57899	0.981	P	0.44860	0.462	T	0.06826	-1.0805	10	0.87932	D	0	-22.374	15.4034	0.74858	0.2293:0.7707:0.0:0.0	.	341	Q9NZN3	EHD3_HUMAN	W	341	ENSP00000327116:R341W	ENSP00000327116:R341W	R	+	1	2	EHD3	31338024	1.000000	0.71417	0.730000	0.30809	0.107000	0.19398	3.007000	0.49536	2.873000	0.98535	0.561000	0.74099	CGG		0.572	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		T	31484520	C	T	31484520	3	4	43	1	0	0	0	0	1	0	0	0	4979	643	23	1	1039	1	EHD3	2	31484520	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3682072	31484520	211714853	99	3276											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	32713733	32713733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaaaatggagcagacAtatttttatataatgctaat	19	12	6	4	0	0	2	0	0	0	2	0	3	0	3	0	1	2	2	0	1	8	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:32713733A>G	ENST00000421745.2	+	42	8181	c.8047A>G	c.(8047-8049)Ata>Gta	p.I2683V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2683					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)					TGGAGCAGACATATTTTTATA	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	.											0													19	18	18					2																	32713733		2126	4166	6292	SO:0001583	missense	57448			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.8047A>G	2.37:g.32713733A>G	ENSP00000393596:p.Ile2683Val		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753814	0.49362	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.67	5.67	0.87782	.	0.067092	0.64402	D	0.000012	T	0.57740	0.2074	N	0.19112	0.55	0.48087	D	0.999583	B	0.13594	0.008	B	0.17098	0.017	T	0.53718	-0.8399	10	0.13108	T	0.6	.	11.5764	0.50864	0.8509:0.149:0.0:0.0	.	2683	Q9NR09	BIRC6_HUMAN	V	2683	ENSP00000393596:I2683V	ENSP00000393596:I2683V	I	+	1	0	BIRC6	32567237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.015000	0.57152	2.170000	0.68504	0.533000	0.62120	ATA		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32713733	A	G	32713733	3	3	43	1	0	0	0	0	1	0	0	0	1438	217	8	4	8213	4	BIRC6	2	32713733	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1229213	32713733	210485640	100	3277											
CRIM1	51232	broad.mit.edu	37	chr2	36691711	36691711	+	Missense_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	ctggcttatgtggtttccccGtgtgtgaggtgggatccact	4	14	14	9	1	0	1	0	1	0	0	2	2	2	2	3	4	0	2	3	4	1	2	rs373577546		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:36691711G>A	ENST00000280527.2	+	5	1271	c.904G>A	c.(904-906)Gtg>Atg	p.V302M		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	302					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)				TGGTTTCCCCGTGTGTGAGGT	0.493																																						.											0								G	MET/VAL	0,4406		0,0,2203	261	236	244		904	2.8	1	2		244	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRIM1	NM_016441.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	302/1037	36691711	1,13005	2203	4300	6503	SO:0001583	missense	51232			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.904G>A	2.37:g.36691711G>A	ENSP00000280527:p.Val302Met		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030171	0.35797	0.0	1.16E-4	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04360	3.64	5.94	2.83	0.33086	.	0.346611	0.29172	N	0.012927	T	0.03305	0.0096	N	0.19112	0.55	0.29209	N	0.874718	B	0.13594	0.008	B	0.09377	0.004	T	0.24799	-1.0150	10	0.44086	T	0.13	-3.1507	7.1527	0.25620	0.3699:0.0:0.6301:0.0	.	302	Q9NZV1	CRIM1_HUMAN	M	302;194	ENSP00000280527:V302M	ENSP00000280527:V302M	V	+	1	0	CRIM1	36545215	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.549000	0.23329	0.861000	0.35504	0.650000	0.86243	GTG		0.493	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		A	36691711	G	A	36691711	3	1	43	1	0	0	0	0	1	0	0	0	3873	1145	40	1	922	1	CRIM1	2	36691711	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3977978	36691711	206507662	101	3278											
KCNG3	170850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	42720408	42720408	+	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	aagcgcagcttgccgtggccGcgcacgtagagcaggatgaa	10	5	15	11	5	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42720408G>A	ENST00000306078.1	-	1	829	c.234C>T	c.(232-234)cgC>cgT	p.R78R	MTA3_ENST00000405592.1_5'Flank|KCNG3_ENST00000394973.4_Silent_p.R78R	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	78					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGCCGTGGCCGCGCACGTAGA	0.647																																						.											0													30	29	30					2																	42720408		2198	4300	6498	SO:0001819	synonymous_variant	170850			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.234C>T	2.37:g.42720408G>A			Q53SC1	Silent	SNP	ENST00000306078.1	37	CCDS1809.1																																																																																				0.647	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		A	42720408	G	A	42720408	2	1	43	1	0	0	0	0	0	0	0	1	8029	1074	38	1		1	KCNG3	2	42720408	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6028697	42720408	200478965	102	3279											
OXER1	165140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	42990143	42990143	+	Missense_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	cctagaggcctcccggtagcGccactgcctggagggttggt	5	8	15	13	2	0	1	0	0	0	1	1	2	1	2	5	5	2	2	5	5	2	3	rs374132247		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42990143G>A	ENST00000378661.2	-	1	1258	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	393					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						TCCCGGTAGCGCCACTGCCTG	0.677													.|||	1	0.000199681	0	0	5008	,	,		18890	0		0	False		,,,				2504	0.001					.											0								G	CYS/ARG	0,4406		0,0,2203	44	47	46		1177	-0.1	0	2		46	2,8598	2.2+/-6.3	0,2,4298	no	missense	OXER1	NM_148962.4	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	393/424	42990143	2,13004	2203	4300	6503	SO:0001583	missense	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1177C>T	2.37:g.42990143G>A	ENSP00000367930:p.Arg393Cys		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	7.917	0.737792	0.15574	0.0	2.33E-4	ENSG00000162881	ENST00000378661	T	0.61510	0.1	1.59	-0.094	0.13646	.	2.639090	0.02716	U	0.113495	T	0.46678	0.1405	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.36962	-0.9726	10	0.59425	D	0.04	.	3.4552	0.07512	0.5217:0.0:0.4783:0.0	.	393	Q8TDS5	OXER1_HUMAN	C	393	ENSP00000367930:R393C	ENSP00000367930:R393C	R	-	1	0	OXER1	42843647	0.000000	0.05858	0.014000	0.15608	0.035000	0.12851	-0.284000	0.08422	-0.044000	0.13491	0.655000	0.94253	CGC		0.677	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		A	42990143	G	A	42990143	3	1	43	1	0	0	0	0	1	0	0	0	11331	1087	38	1	98	1	OXER1	2	42990143	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	269735	42990143	200209230	103	3280											
OXER1	165140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	42990181	42990181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggagctctcgtcgctcActgggccctgccggccccgc	3	7	14	17	4	2	0	1	0	1	0	4	1	2	1	4	4	2	3	4	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42990181A>G	ENST00000378661.2	-	1	1220	c.1139T>C	c.(1138-1140)gTg>gCg	p.V380A		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	380					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CTCGTCGCTCACTGGGCCCTG	0.662																																						.											0													40	45	44					2																	42990181		2203	4300	6503	SO:0001583	missense	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1139T>C	2.37:g.42990181A>G	ENSP00000367930:p.Val380Ala		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	A	0.200	-1.045308	0.01997	.	.	ENSG00000162881	ENST00000378661	T	0.37752	1.18	3.79	-4.65	0.03339	.	3.447910	0.02281	U	0.069387	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16129	-1.0413	10	0.06236	T	0.91	.	0.7743	0.01029	0.3082:0.1227:0.3231:0.246	.	380	Q8TDS5	OXER1_HUMAN	A	380	ENSP00000367930:V380A	ENSP00000367930:V380A	V	-	2	0	OXER1	42843685	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.262000	0.08682	-0.626000	0.05596	-0.250000	0.11733	GTG		0.662	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		G	42990181	A	G	42990181	3	3	43	1	0	0	0	0	1	0	0	0	11331	159	6	2	136	2	OXER1	2	42990181	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	38	42990181	200209192	104	3281											
PPM1B	5495	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	44428691	44428691	+	Missense_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	gaaaattgatgaatacatgcGtaacttttcagacctcagaa	16	11	7	7	1	2	4	2	2	0	2	2	5	2	4	1	0	3	1	1	0	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:44428691G>A	ENST00000282412.4	+	2	765	c.353G>A	c.(352-354)cGt>cAt	p.R118H	PPM1B_ENST00000378551.2_Missense_Mutation_p.R118H|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Missense_Mutation_p.R118H|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Missense_Mutation_p.R118H	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	118					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAATACATGCGTAACTTTTCA	0.398																																						.											0													121	121	121					2																	44428691		2203	4300	6503	SO:0001583	missense	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.353G>A	2.37:g.44428691G>A	ENSP00000282412:p.Arg118His		Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802576	0.70682	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.71	5.71	0.89125	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.83774	2.66	0.80722	D	1	P;P;D;P;B	0.89917	0.725;0.455;1.0;0.535;0.336	B;B;D;B;B	0.68192	0.162;0.043;0.956;0.179;0.298	T	0.43507	-0.9387	10	0.32370	T	0.25	-15.4016	19.8632	0.96793	0.0:0.0:1.0:0.0	.	118;118;118;118;118	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	H	118	ENSP00000390087:R118H;ENSP00000387341:R118H;ENSP00000387287:R118H;ENSP00000282412:R118H;ENSP00000367813:R118H;ENSP00000386982:R118H	ENSP00000282412:R118H	R	+	2	0	PPM1B	44282195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	CGT		0.398	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		A	44428691	G	A	44428691	3	1	43	1	0	0	0	0	1	0	0	0	12336	1145	40	1	355	1	PPM1B	2	44428691	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1438510	44428691	198770682	105	3282											
MSH6	2956	bcgsc.ca	37	chr2	48030692	48030693	+	Frame_Shift_Ins	INS	-	-	T																															atccttgcattacgaagactINSttttttggagatgattttat																								rs267608092|rs267608093|rs2020910	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:48030692_48030693insT	ENST00000234420.5	+	5	3458_3459	c.3306_3307insT	c.(3307-3309)tttfs	p.F1103fs	MSH6_ENST00000540021.1_Frame_Shift_Ins_p.F973fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.F801fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1103					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)			TTACGAAGACTTTTTTTGGAGA	0.45			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													.	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)																																								SO:0001589	frameshift_variant	2956	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	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.3312dupT	2.37:g.48030698_48030698dupT	ENSP00000234420:p.Phe1103fs		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Ins	INS	ENST00000234420.5	37	CCDS1836.1																																																																																				0.45	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		T	48030693	-	T	48030692	7	5	43	1	0	1	1	0	0	0	0	0	9874	1596	56	0	3324	0	MSH6	2	48030692	Frame_Shift_Ins	INS	-	TCGA-KN-8428-01A-11D-2310-10	3602001	48030692	195168681	106	3283											
SPTBN1	6711	broad.mit.edu	37	chr2	54876812	54876812	+	Missense_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	ggaacattgggcaggagcgcGtggacacggtcaatcacctg	10	6	15	10	3	2	0	2	0	0	0	2	3	2	3	1	5	2	1	1	5	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:54876812G>A	ENST00000356805.4	+	26	5544	c.5263G>A	c.(5263-5265)Gtg>Atg	p.V1755M	SPTBN1_ENST00000333896.5_Missense_Mutation_p.V1742M	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1755	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAGGAGCGCGTGGACACGGT	0.552																																						.											0													66	64	65					2																	54876812		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5263G>A	2.37:g.54876812G>A	ENSP00000349259:p.Val1755Met		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395228	0.83011	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.58210	0.35;0.35	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.79353	0.4431	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.932;0.998	T	0.83200	-0.0079	10	0.87932	D	0	.	19.632	0.95713	0.0:0.0:1.0:0.0	.	1742;1755	Q01082-3;Q01082	.;SPTB2_HUMAN	M	1755;1742	ENSP00000349259:V1755M;ENSP00000334156:V1742M	ENSP00000334156:V1742M	V	+	1	0	SPTBN1	54730316	1.000000	0.71417	0.965000	0.40720	0.463000	0.32649	9.747000	0.98863	2.647000	0.89833	0.555000	0.69702	GTG		0.552	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			A	54876812	G	A	54876812	3	1	43	1	0	0	0	0	1	0	0	0	15118	1145	40	1	5474	1	SPTBN1	2	54876812	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6846120	54876812	188322561	107	3284											
RTN4	57142	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	55254295	55254295	+	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	cctaggatttgctactattaCggcagattctgcttttggag	8	15	10	8	1	1	1	0	0	1	1	1	3	1	3	1	3	4	3	1	3	4	8	rs144622313		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:55254295C>T	ENST00000337526.6	-	3	1183	c.940G>A	c.(940-942)Gta>Ata	p.V314I	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.V108I|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.V108I|RTN4_ENST00000354474.6_Missense_Mutation_p.V82I|RTN4_ENST00000394611.2_Missense_Mutation_p.V108I|RTN4_ENST00000404909.1_Missense_Mutation_p.V108I	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	314					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCTACTATTACGGCAGATTCT	0.333													C|||	1	0.000199681	0	0.0014	5008	,	,		21464	0		0	False		,,,				2504	0					.											0								C	ILE/VAL,,,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	90	88	89		940,,,322	-12	0	2	dbSNP_134	89	10,8588	7.7+/-29.5	0,10,4289	yes	missense,intron,intron,missense	RTN4	NM_020532.4,NM_153828.2,NM_207520.1,NM_207521.1	29,,,29	0,14,6488	TT,TC,CC		0.1163,0.0908,0.1077	benign,,,benign	314/1193,,,108/987	55254295	14,12990	2203	4299	6502	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.940G>A	2.37:g.55254295C>T	ENSP00000337838:p.Val314Ile		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.003	-2.572382	0.00133	9.08E-4	0.001163	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.16897	2.32;2.32;2.31;2.32;2.32;2.31	6.02	-12.0	0.00017	.	1.724100	0.02202	N	0.062322	T	0.05318	0.0141	N	0.02391	-0.57	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43702	-0.9375	10	0.02654	T	1	2.7456	15.2947	0.73894	0.1131:0.6214:0.0:0.2655	.	314	Q9NQC3	RTN4_HUMAN	I	108;108;314;108;108;82	ENSP00000384471:V108I;ENSP00000349944:V108I;ENSP00000337838:V314I;ENSP00000378109:V108I;ENSP00000385650:V108I;ENSP00000346465:V82I	ENSP00000337838:V314I	V	-	1	0	RTN4	55107799	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.135000	0.03225	-1.910000	0.01083	-1.929000	0.00512	GTA		0.333	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			T	55254295	C	T	55254295	3	4	43	1	0	0	0	0	1	0	0	0	13728	536	19	1	2704	1	RTN4	2	55254295	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	377483	55254295	187945078	108	3285											
C2orf63	130162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	55408743	55408743	+	Missense_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	attggtaactaaatctaaccGtttttctgataatccacatt	13	16	4	8	1	2	1	0	1	2	0	3	1	3	1	2	1	2	2	2	1	5	8	rs368001227		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:55408743G>A	ENST00000401408.1	-	10	1489	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	CLHC1_ENST00000407122.1_Missense_Mutation_p.R382W|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.R260W|CLHC1_ENST00000406437.2_De_novo_Start_OutOfFrame	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	382																	AAATCTAACCGTTTTTCTGAT	0.343																																						.											0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	86	80	82		778,1144	5.8	1	2		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	C2orf63	NM_001135598.1,NM_152385.2	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	260/465,382/587	55408743	2,13004	2203	4300	6503	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1144C>T	2.37:g.55408743G>A	ENSP00000384869:p.Arg382Trp		B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391201	0.82902	0.0	2.33E-4	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.52526	0.66;0.66;0.66	5.78	5.78	0.91487	Clathrin, heavy chain, linker (1);Armadillo-type fold (1);	0.180442	0.38837	N	0.001557	T	0.69070	0.3070	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70321	-0.4904	10	0.87932	D	0	-14.0778	17.2896	0.87152	0.0:0.0:1.0:0.0	.	382	Q8NHS4	CB063_HUMAN	W	382;382;260	ENSP00000385778:R382W;ENSP00000384869:R382W;ENSP00000385512:R260W	ENSP00000384869:R382W	R	-	1	2	C2orf63	55262247	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.922000	0.56462	2.894000	0.99253	0.591000	0.81541	CGG		0.343	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		A	55408743	G	A	55408743	3	1	43	1	0	0	0	0	1	0	0	0	2182	1144	40	1	632	1	C2orf63	2	55408743	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	154448	55408743	187790630	109	3286											
ETAA1	54465	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	67637129	67637129	+	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	ttcggagaatggctaaagcaCgagcctcatctgtaaatgca	13	9	10	9	2	2	1	1	0	1	1	3	3	2	1	1	2	3	4	1	2	5	3	rs368100435		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:67637129C>T	ENST00000272342.5	+	6	2870	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	914						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						GGCTAAAGCACGAGCCTCATC	0.373																																						.											0													94	112	106					2																	67637129		2203	4300	6503	SO:0001587	stop_gained	54465			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.2740C>T	2.37:g.67637129C>T	ENSP00000272342:p.Arg914*		Q05BT7|Q53SC4	Nonsense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	41	8.572554	0.98868	.	.	ENSG00000143971	ENST00000272342	.	.	.	5.83	4.73	0.59995	.	0.322034	0.28135	N	0.016468	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-28.0792	11.0857	0.48086	0.0:0.8843:0.0:0.1157	.	.	.	.	X	914	.	ENSP00000272342:R914X	R	+	1	2	ETAA1	67490633	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.054000	0.49908	1.127000	0.42034	0.591000	0.81541	CGA		0.373	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		T	67637129	C	T	67637129	4	4	43	1	0	0	0	0	0	1	0	0	5267	528	19	1	2762	1	ETAA1	2	67637129	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12228386	67637129	175562244	110	3287											
GFPT1	2673	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	69583647	69583647	+	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	ccttgtgccaactgcttgccCgggaaaatgaacacttttaa	11	11	8	11	1	0	1	0	1	0	0	0	2	0	2	3	1	5	1	3	1	5	4	rs370171865		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:69583647C>T	ENST00000357308.4	-	7	764	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	GFPT1_ENST00000361060.5_Missense_Mutation_p.G196R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	196	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ACTGCTTGCCCGGGAAAATGA	0.358																																						.											0								C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	146	146	146		586	4.5	1	2		146	0,8600		0,0,4300	no	missense	GFPT1	NM_002056.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	196/682	69583647	1,13005	2203	4300	6503	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.586G>A	2.37:g.69583647C>T	ENSP00000349860:p.Gly196Arg		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316483	0.81469	2.27E-4	0.0	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76448	-1.02;-1.02	5.34	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.87609	0.2502	10	0.72032	D	0.01	-12.7973	12.7181	0.57127	0.0:0.9208:0.0:0.0792	.	196	Q06210-2	.	R	196	ENSP00000349860:G196R;ENSP00000354347:G196R	ENSP00000349860:G196R	G	-	1	0	GFPT1	69437151	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	5.785000	0.68998	1.491000	0.48482	0.655000	0.94253	GGG		0.358	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	69583647	C	T	69583647	3	4	43	1	0	0	0	0	1	0	0	0	6345	652	23	1	1511	1	GFPT1	2	69583647	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1946518	69583647	173615726	111	3288											
DYSF	8291	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	71887760	71887760	+	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	ggataactacatcccctgcaCgctggagcccgtatttggaa	10	9	10	12	2	0	0	0	0	0	0	1	3	1	3	3	3	4	3	3	3	4	4	rs144383140		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:71887760C>T	ENST00000258104.3	+	44	5142	c.4865C>T	c.(4864-4866)aCg>aTg	p.T1622M	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.T1640M|DYSF_ENST00000429174.2_Missense_Mutation_p.T1643M|DYSF_ENST00000409762.1_Missense_Mutation_p.T1639M|DYSF_ENST00000394120.2_Missense_Mutation_p.T1623M|DYSF_ENST00000409366.1_Missense_Mutation_p.T1644M|DYSF_ENST00000413539.2_Missense_Mutation_p.T1653M|DYSF_ENST00000410020.3_Missense_Mutation_p.T1661M|DYSF_ENST00000409582.3_Missense_Mutation_p.T1660M|DYSF_ENST00000409651.1_Missense_Mutation_p.T1654M|DYSF_ENST00000409744.1_Missense_Mutation_p.T1630M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1622	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCCCCTGCACGCTGGAGCCC	0.502																																						.											0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	145	128	134		4868,4823,4886,4928,4958,4916,4979,4961,4931,4889,4919,4826,4982,4865	5.8	1	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	81,81,81,81,81,81,81,81,81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1623/2082,1608/2067,1629/2088,1643/2102,1653/2112,1639/2098,1660/2119,1654/2113,1644/2103,1630/2089,1640/2099,1609/2068,1661/2120,1622/2081	71887760	1,13005	2203	4300	6503	SO:0001583	missense	8291			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.4865C>T	2.37:g.71887760C>T	ENSP00000258104:p.Thr1622Met		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	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677535	0.88445	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;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;0.68	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.245141	0.47455	D	0.000231	T	0.78027	0.4219	H	0.97186	3.955	0.58432	D	0.999996	D;P;P;D;D;D;D;D;D;P;P;P;D;D;D	0.69078	0.99;0.924;0.924;0.992;0.985;0.979;0.997;0.979;0.997;0.924;0.79;0.921;0.972;0.985;0.988	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.61722	0.893;0.525;0.65;0.809;0.809;0.657;0.888;0.657;0.888;0.525;0.65;0.496;0.809;0.809;0.88	D	0.85230	0.1032	10	0.72032	D	0.01	-23.1535	17.5763	0.87950	0.0:1.0:0.0:0.0	.	386;1654;1661;1644;1609;1640;1630;1639;1629;1653;1660;1643;1608;1623;1622	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	M	1653;1639;1660;1643;1622;1654;1623;1630;1644;1661;1640	ENSP00000407046:T1653M;ENSP00000387137:T1639M;ENSP00000386547:T1660M;ENSP00000398305:T1643M;ENSP00000258104:T1622M;ENSP00000386683:T1654M;ENSP00000377678:T1623M;ENSP00000386285:T1630M;ENSP00000386512:T1644M;ENSP00000386881:T1661M;ENSP00000386617:T1640M	ENSP00000258104:T1622M	T	+	2	0	DYSF	71741268	1.000000	0.71417	0.963000	0.40424	0.939000	0.58152	5.958000	0.70330	2.754000	0.94517	0.549000	0.68633	ACG		0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71887760	C	T	71887760	3	4	43	1	0	0	0	0	1	0	0	0	4859	536	19	1	5298	1	DYSF	2	71887760	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2304113	71887760	171311613	112	3289											
EGR4	1961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	73520376	73520376	+	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	gggcaattcagcgctgggttCggcgcaacagccttcagtgg	7	8	15	11	3	2	0	2	0	0	0	3	0	2	0	1	4	3	4	1	4	2	3	rs370512012		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:73520376C>T	ENST00000545030.1	-	1	453	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	EGR4_ENST00000436467.2_Missense_Mutation_p.E24K	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	127					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						GCGCTGGGTTCGGCGCAACAG	0.701																																						.											0													21	17	19					2																	73520376		2194	4292	6486	SO:0001583	missense	1961				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.379G>A	2.37:g.73520376C>T	ENSP00000445626:p.Glu127Lys		B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956665	0.34565	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.15372	2.43;2.83	4.06	2.19	0.27852	.	0.797021	0.10981	N	0.612656	T	0.10594	0.0259	N	0.24115	0.695	0.09310	N	1	B;B	0.22909	0.046;0.077	B;B	0.16722	0.007;0.016	T	0.31308	-0.9948	10	0.72032	D	0.01	-0.6171	3.9935	0.09548	0.0:0.5634:0.2109:0.2256	.	24;127	Q05215;G3V1T5	EGR4_HUMAN;.	K	127;24	ENSP00000445626:E127K;ENSP00000419687:E24K	ENSP00000419687:E24K	E	-	1	0	EGR4	73373884	0.000000	0.05858	0.080000	0.20451	0.537000	0.34900	0.041000	0.13927	0.345000	0.23873	0.561000	0.74099	GAA		0.701	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		T	73520376	C	T	73520376	3	4	43	1	0	0	0	0	1	0	0	0	4974	893	31	1	1398	1	EGR4	2	73520376	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1632616	73520376	169678997	113	3290											
TET3	200424	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	74327959	74327959	+	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	agccaggctgttcccacagaCgcccaccaccccactcctca	9	5	6	21	1	1	1	1	0	0	1	3	1	3	1	7	1	1	2	7	1	0	1	rs530077169	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:74327959C>T	ENST00000409262.3	+	9	3639	c.3639C>T	c.(3637-3639)gaC>gaT	p.D1213D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1213					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						TTCCCACAGACGCCCACCACC	0.642													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		17802	0		0	False		,,,				2504	0					.											0													19	23	22					2																	74327959		2078	4211	6289	SO:0001819	synonymous_variant	200424				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.3639C>T	2.37:g.74327959C>T			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	CCDS46339.1																																																																																				0.642	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74327959	C	T	74327959	2	4	43	1	0	0	0	0	0	0	0	1	15768	535	19	1		1	TET3	2	74327959	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	807583	74327959	168871414	114	3291											
TCF7L1	83439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	85533623	85533623	+	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	ccaagtactacgagctggccCggaaggagcggcagcttcac	10	5	13	13	3	1	0	1	0	0	0	1	3	1	2	2	4	5	4	2	4	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:85533623C>T	ENST00000282111.3	+	10	1473	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	400					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CGAGCTGGCCCGGAAGGAGCG	0.607																																						.											0													70	65	67					2																	85533623		2203	4300	6503	SO:0001583	missense	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1198C>T	2.37:g.85533623C>T	ENSP00000282111:p.Arg400Trp		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604526	0.66445	.	.	ENSG00000152284	ENST00000282111	D	0.98135	-4.74	4.74	2.88	0.33553	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.053873	0.64402	D	0.000001	D	0.98704	0.9565	M	0.92317	3.295	0.53005	D	0.999965	D	0.89917	1.0	D	0.80764	0.994	D	0.98574	1.0647	10	0.87932	D	0	.	9.2326	0.37446	0.1649:0.676:0.1591:0.0	.	400	Q9HCS4	TF7L1_HUMAN	W	400	ENSP00000282111:R400W	ENSP00000282111:R400W	R	+	1	2	TCF7L1	85387134	0.740000	0.28207	0.998000	0.56505	0.830000	0.47004	1.445000	0.35079	0.562000	0.29204	-0.293000	0.09583	CGG		0.607	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		T	85533623	C	T	85533623	3	4	43	1	0	0	0	0	1	0	0	0	15694	643	23	1	1236	1	TCF7L1	2	85533623	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11205664	85533623	157665750	115	3292											
POLR1A	25885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	86315989	86315989	+	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	tcttgctctcacacacgttcTttacctgtttttttaaaaaa	10	18	3	10	1	3	0	1	0	3	0	4	0	3	0	1	0	2	3	1	0	4	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:86315989T>G	ENST00000263857.6	-	5	923	c.545A>C	c.(544-546)aAg>aCg	p.K182T	POLR1A_ENST00000409681.1_Missense_Mutation_p.K182T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	182					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACACACGTTCTTTACCTGTTT	0.398																																						.											0													91	87	88					2																	86315989		1904	4113	6017	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.545A>C	2.37:g.86315989T>G	ENSP00000263857:p.Lys182Thr		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840075	0.71488	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69435	-0.4;-0.38	6.07	6.07	0.98685	RNA polymerase Rpb1, domain 1 (1);	0.230096	0.47455	D	0.000221	T	0.76849	0.4045	L	0.52266	1.64	0.80722	D	1	D;D	0.60575	0.977;0.988	D;P	0.63877	0.919;0.869	T	0.77902	-0.2414	10	0.59425	D	0.04	-29.6231	16.3021	0.82825	0.0:0.0:0.0:1.0	.	182;182	B9ZVN9;O95602	.;RPA1_HUMAN	T	182	ENSP00000263857:K182T;ENSP00000386300:K182T	ENSP00000263857:K182T	K	-	2	0	POLR1A	86169500	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	7.073000	0.76784	2.326000	0.78906	0.533000	0.62120	AAG		0.398	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		G	86315989	T	G	86315989	3	3	43	1	0	0	0	0	1	0	0	0	12209	1609	56	5	4737	5	POLR1A	2	86315989	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	782366	86315989	156883384	116	3293											
FAM178B	51252	bcgsc.ca	37	chr2	97568436	97568436	+	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	ccacaaggctgagctggcttCgaagccgcctgggggaaaag	10	5	15	11	2	0	1	0	1	0	0	1	3	0	2	3	4	2	3	3	4	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:97568436C>T	ENST00000417561.3	-	17	2014	c.2015G>A	c.(2014-2016)cGa>cAa	p.R672Q	FAM178B_ENST00000490605.2_Missense_Mutation_p.R524Q|FAM178B_ENST00000327896.3_Missense_Mutation_p.R492Q			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	672										large_intestine(1)|ovary(1)	2						GAGCTGGCTTCGAAGCCGCCT	0.617																																						.											0													37	38	38					2																	97568436		692	1591	2283	SO:0001583	missense	51252			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.2015G>A	2.37:g.97568436C>T	ENSP00000413245:p.Arg672Gln		A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	ENST00000417561.3	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.553217	0.86127	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000490605	T;T;T	0.57595	0.39;0.42;0.4	5.42	5.42	0.78866	.	.	.	.	.	T	0.63663	0.2530	M	0.64404	1.975	0.29515	N	0.853893	.	.	.	.	.	.	T	0.64249	-0.6452	7	0.72032	D	0.01	-5.6676	14.7261	0.69346	0.0:1.0:0.0:0.0	.	.	.	.	Q	672;492;524	ENSP00000413245:R672Q;ENSP00000333553:R492Q;ENSP00000429896:R524Q	ENSP00000333553:R492Q	R	-	2	0	FAM178B	96932163	1.000000	0.71417	0.988000	0.46212	0.865000	0.49528	3.512000	0.53407	2.547000	0.85894	0.561000	0.74099	CGA		0.617	FAM178B-202	KNOWN	basic	protein_coding	protein_coding		NM_016490		T	97568436	C	T	97568436	3	4	43	1	0	0	0	0	1	0	0	0	5504	884	31	1	519	1	FAM178B	2	97568436	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11252447	97568436	145630937	117	3294											
LYG2	254773	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	99860551	99860551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtagcctgtgaaaggTgctctttgctatcccaggca	8	11	10	12	0	1	1	0	1	1	0	3	1	3	1	3	2	3	4	3	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:99860551T>C	ENST00000409238.1	-	4	451	c.431A>G	c.(430-432)cAc>cGc	p.H144R	LYG2_ENST00000333017.2_Missense_Mutation_p.H144R|LYG2_ENST00000423800.1_Missense_Mutation_p.H144R|LYG2_ENST00000409679.1_Missense_Mutation_p.H144R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	144					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CTGTGAAAGGTGCTCTTTGCT	0.433																																						.											0													100	94	96					2																	99860551		2203	4300	6503	SO:0001583	missense	254773			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.431A>G	2.37:g.99860551T>C	ENSP00000386939:p.His144Arg		Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588887	0.46110	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.58	5.58	0.84498	Lytic transglycosylase-like, catalytic (1);Lysozyme-like domain (1);	0.000000	0.64402	D	0.000013	T	0.79399	0.4439	M	0.84326	2.69	0.49687	D	0.999816	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.81531	-0.0890	8	.	.	.	-3.0463	12.1331	0.53955	0.0:0.0:0.0:1.0	.	144;144;144	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	R	144	.	.	H	-	2	0	LYG2	99226983	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	5.205000	0.65186	2.121000	0.65114	0.454000	0.30748	CAC		0.433	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		C	99860551	T	C	99860551	3	2	43	1	0	0	0	0	1	0	0	0	9105	1696	59	2	215	2	LYG2	2	99860551	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	2292115	99860551	143338822	118	3295											
AFF3	3899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	100210166	100210166	+	Missense_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	gacgatcctgcttagcccccGcgtgcggcgcttctcgcagg	4	8	13	16	6	1	0	0	0	1	0	3	2	2	0	3	2	3	3	3	2	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:100210166G>A	ENST00000409236.2	-	13	2069	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	AFF3_ENST00000356421.2_Missense_Mutation_p.R678W|AFF3_ENST00000317233.4_Missense_Mutation_p.R653W|AFF3_ENST00000409579.1_Missense_Mutation_p.R678W			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	653					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTTAGCCCCCGCGTGCGGCGC	0.632																																						.											0													60	66	64					2																	100210166		2203	4299	6502	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1957C>T	2.37:g.100210166G>A	ENSP00000387207:p.Arg653Trp		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899400	0.52227	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.17	3.3	0.37823	.	0.086860	0.45867	D	0.000326	T	0.81384	0.4811	M	0.81497	2.545	0.34164	D	0.669057	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.989	D	0.87301	0.2305	10	0.72032	D	0.01	.	13.6734	0.62438	0.0:0.0:0.6001:0.3999	.	806;653;678	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	W	653;678;678;653;653;806;678	ENSP00000317421:R653W;ENSP00000348793:R678W;ENSP00000386834:R678W;ENSP00000387207:R653W	ENSP00000317421:R653W	R	-	1	2	AFF3	99576598	0.001000	0.12720	0.611000	0.29010	0.738000	0.42128	-0.157000	0.10085	0.523000	0.28482	0.561000	0.74099	CGG		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		A	100210166	G	A	100210166	3	1	43	1	0	0	0	0	1	0	0	0	358	1086	38	1	1767	1	AFF3	2	100210166	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	349615	100210166	142989207	119	3296											
IL1R1	3554	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr2	102789203	102789203	+	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	catcacagtgcttaatatatCggaaattgaaagtagatttt	15	14	7	5	1	1	2	1	1	0	1	2	3	1	3	0	1	1	2	0	1	6	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:102789203C>T	ENST00000410023.1	+	9	1214	c.896C>T	c.(895-897)tCg>tTg	p.S299L	IL1R1_ENST00000409929.1_Missense_Mutation_p.S299L|IL1R1_ENST00000409288.1_Missense_Mutation_p.S299L|IL1R1_ENST00000424272.1_Missense_Mutation_p.S299L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.S299L|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.S299L			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	299	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CTTAATATATCGGAAATTGAA	0.333																																						.											0													120	113	115					2																	102789203		2203	4300	6503	SO:0001583	missense	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.896C>T	2.37:g.102789203C>T	ENSP00000386380:p.Ser299Leu		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745632	0.15710	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73;3.73;3.73	4.87	3.05	0.35203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129319	0.56097	N	0.000040	T	0.05227	0.0139	L	0.42245	1.32	0.35207	D	0.774809	B;B;B	0.24186	0.044;0.099;0.058	B;B;B	0.22753	0.041;0.041;0.031	T	0.19063	-1.0317	10	0.49607	T	0.09	.	9.1313	0.36846	0.0:0.8255:0.0:0.1745	.	299;299;299	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	L	299;299;299;155;299;299;299	ENSP00000386776:S299L;ENSP00000415366:S299L;ENSP00000387131:S299L;ENSP00000410461:S155L;ENSP00000386478:S299L;ENSP00000386380:S299L;ENSP00000233946:S299L	ENSP00000233946:S299L	S	+	2	0	IL1R1	102155635	0.743000	0.28239	0.109000	0.21407	0.027000	0.11550	1.082000	0.30803	0.743000	0.32719	0.591000	0.81541	TCG		0.333	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			T	102789203	C	T	102789203	3	4	43	1	0	0	0	0	1	0	0	0	7658	893	31	1	922	1	IL1R1	2	102789203	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2579037	102789203	140410170	120	3297											
MALL	7851	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	110849317	110849317	+	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	gtatactatgtgggtggcggCtaccatggtccagaccaaga	10	9	13	9	1	0	2	0	0	0	2	1	2	1	2	3	4	2	2	3	4	5	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:110849317C>A	ENST00000272462.2	-	2	909	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	46	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)		TGGGTGGCGGCTACCATGGTC	0.463																																						.											0													90	79	83					2																	110849317		2201	4295	6496	SO:0001583	missense	7851			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.136G>T	2.37:g.110849317C>A	ENSP00000272462:p.Ala46Ser		B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	C	4.439	0.081328	0.08533	.	.	ENSG00000144063	ENST00000272462	T	0.30182	1.54	3.47	3.47	0.39725	Marvel (1);MARVEL-like domain (1);	0.000000	0.53938	D	0.000051	T	0.57184	0.2036	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.63373	-0.6652	10	0.49607	T	0.09	-14.0004	12.7991	0.57576	0.0:1.0:0.0:0.0	.	46	Q13021	MALL_HUMAN	S	46	ENSP00000272462:A46S	ENSP00000272462:A46S	A	-	1	0	MALL	110206606	0.996000	0.38824	0.802000	0.32245	0.092000	0.18411	4.652000	0.61454	1.664000	0.50801	0.313000	0.20887	GCC		0.463	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434		A	110849317	C	A	110849317	3	1	43	1	0	0	0	0	1	0	0	0	9201	797	28	5	337	5	MALL	2	110849317	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8060114	110849317	132350056	121	3298											
BUB1	699	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	111416221	111416221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgtgcacggtgggtgAtggctgcactttggatggcg	4	14	17	6	2	0	1	0	1	0	0	0	2	0	2	0	5	2	3	0	5	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:111416221A>G	ENST00000302759.6	-	12	1493	c.1375T>C	c.(1375-1377)Tca>Cca	p.S459P	BUB1_ENST00000535254.1_Missense_Mutation_p.S439P|BUB1_ENST00000409311.1_Missense_Mutation_p.S459P	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	459	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACGGTGGGTGATGGCTGCACT	0.433																																						.											0													225	192	203					2																	111416221		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1375T>C	2.37:g.111416221A>G	ENSP00000302530:p.Ser459Pro		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600316	0.87055	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.62639	0.87;0.01;1.15	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.65498	2.005	0.51012	D	0.999905	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79359	-0.1836	10	0.72032	D	0.01	-18.7989	14.5065	0.67755	1.0:0.0:0.0:0.0	.	439;459;459	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	P	439;459;459;459	ENSP00000441013:S439P;ENSP00000386701:S459P;ENSP00000302530:S459P	ENSP00000302530:S459P	S	-	1	0	BUB1	111132694	1.000000	0.71417	0.835000	0.33067	0.976000	0.68499	7.143000	0.77348	2.367000	0.80283	0.528000	0.53228	TCA		0.433	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		G	111416221	A	G	111416221	3	3	43	1	0	0	0	0	1	0	0	0	1570	333	12	4	1938	4	BUB1	2	111416221	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	566904	111416221	131783152	122	3299											
TMEM177	80775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	120438454	120438454	+	Missense_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	caggtcccctgtggcggaccGcagcatttgtgcagagacac	8	7	13	13	2	0	1	0	0	0	1	1	3	1	2	3	3	2	3	3	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:120438454G>A	ENST00000424086.1	+	2	498	c.25G>A	c.(25-27)Gca>Aca	p.A9T	TMEM177_ENST00000272521.6_Missense_Mutation_p.A9T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A9T|TMEM177_ENST00000409951.1_Missense_Mutation_p.A9T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	9						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GTGGCGGACCGCAGCATTTGT	0.577																																						.											0													31	32	32					2																	120438454		2203	4300	6503	SO:0001583	missense	80775			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.25G>A	2.37:g.120438454G>A	ENSP00000402661:p.Ala9Thr		Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	3.212	-0.161456	0.06502	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.05	-1.07	0.09968	.	0.587988	0.18617	N	0.135983	T	0.10380	0.0254	L	0.47716	1.5	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.10450	0.005;0.003	T	0.25257	-1.0137	10	0.26408	T	0.33	.	0.9877	0.01450	0.3926:0.1542:0.296:0.1572	.	9;9	B8ZZT5;Q53S58	.;TM177_HUMAN	T	9	ENSP00000385966:A9T;ENSP00000402661:A9T;ENSP00000272521:A9T;ENSP00000405898:A9T;ENSP00000386430:A9T	ENSP00000272521:A9T	A	+	1	0	TMEM177	120154924	0.001000	0.12720	0.000000	0.03702	0.267000	0.26476	-0.011000	0.12721	-0.221000	0.09973	0.549000	0.68633	GCA		0.577	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		A	120438454	G	A	120438454	3	1	43	1	0	0	0	0	1	0	0	0	16091	1087	38	1	27	1	TMEM177	2	120438454	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9022233	120438454	122760919	123	3300											
BIN1	274	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	127810999	127810999	+	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	gagcagacgtgcagcttaccTcccagaggtcccatggaatt	10	8	11	12	1	0	2	0	0	0	2	2	4	2	3	3	2	4	3	3	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:127810999T>C	ENST00000316724.5	-	14	1673	c.1262A>G	c.(1261-1263)gAg>gGg	p.E421G	BIN1_ENST00000393040.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000357970.3_Splice_Site_p.E378G|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000352848.3_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	421	Clathrin-binding.				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)		GCAGCTTACCTCCCAGAGGTC	0.602																																						.											0													106	87	93					2																	127810999		2203	4300	6503	SO:0001630	splice_region_variant	274			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.1263+1A>G	2.37:g.127810999T>C			O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187063	0.78789	.	.	ENSG00000136717	ENST00000357970;ENST00000316724	T;T	0.65916	-0.18;-0.18	5.39	5.39	0.77823	.	0.230194	0.34777	N	0.003693	T	0.71195	0.3311	L	0.43152	1.355	0.80722	D	1	P;D	0.71674	0.879;0.998	P;D	0.72982	0.5;0.979	T	0.72290	-0.4337	10	0.51188	T	0.08	-30.8542	12.9831	0.58575	0.0:0.0:0.0:1.0	.	378;421	O00499-5;O00499	.;BIN1_HUMAN	G	378;421	ENSP00000350654:E378G;ENSP00000316779:E421G	ENSP00000316779:E421G	E	-	2	0	BIN1	127527469	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.417000	0.44653	2.075000	0.62263	0.454000	0.30748	GAG		0.602	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343	Missense_Mutation	C	127810999	T	C	127810999	5	2	43	1	0	0	0	0	0	0	1	0	1432	1565	54	2	543	2	BIN1	2	127810999	Splice_Site	SNP	T	TCGA-KN-8428-01A-11D-2310-10	7372545	127810999	115388374	124	3301											
MYO7B	4648	broad.mit.edu;bcgsc.ca	37	chr2	128324245	128324245	+	Missense_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	caggctccatcctggtggccGtcaacccgttccaggtgctg	5	9	12	15	2	1	0	1	0	0	0	4	0	4	0	5	4	2	3	5	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:128324245G>A	ENST00000409816.2	+	4	345	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	MYO7B_ENST00000389524.4_Missense_Mutation_p.V105I|MYO7B_ENST00000428314.1_Missense_Mutation_p.V105I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	105	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTGGTGGCCGTCAACCCGTT	0.637																																						.											0													26	31	29					2																	128324245		2010	4165	6175	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.313G>A	2.37:g.128324245G>A	ENSP00000386461:p.Val105Ile		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154856	0.78114	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.89617	-2.54;-2.54;-2.54	5.55	5.55	0.83447	Myosin head, motor domain (3);	0.000000	0.64402	D	0.000002	D	0.91556	0.7333	L	0.60957	1.885	0.58432	D	0.999997	D	0.76494	0.999	P	0.62491	0.903	D	0.89338	0.3652	10	0.26408	T	0.33	.	13.7612	0.62968	0.0733:0.0:0.9266:0.0	.	105	Q6PIF6	MYO7B_HUMAN	I	105	ENSP00000374175:V105I;ENSP00000415090:V105I;ENSP00000386461:V105I	ENSP00000374175:V105I	V	+	1	0	MYO7B	128040715	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	4.885000	0.63142	2.595000	0.87683	0.561000	0.74099	GTC		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128324245	G	A	128324245	3	1	43	1	0	0	0	0	1	0	0	0	10083	1145	40	1	327	1	MYO7B	2	128324245	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	513246	128324245	114875128	125	3302											
RAB3GAP1	22930	ucsc.edu	37	chr2	135920123	135920123	+	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	gtgtgcgctgcacctccttcAggtgctgcactatctggcaa	6	11	11	13	1	2	0	1	0	1	0	3	0	3	0	2	2	4	5	2	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:135920123A>G	ENST00000264158.8	+	20	2332		c.e20-1		RAB3GAP1_ENST00000487003.1_Splice_Site|ZRANB3_ENST00000412849.1_5'UTR|RAB3GAP1_ENST00000442034.1_Splice_Site|RAB3GAP1_ENST00000539493.1_Splice_Site	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)						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)		CACCTCCTTCAGGTGCTGCAC	0.488																																						.											0													42	40	41					2																	135920123		2203	4300	6503	SO:0001630	splice_region_variant	22930			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.2290-1A>G	2.37:g.135920123A>G			A6H8Z3|C9J837|Q659F5|Q8TBB4	Splice_Site	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333142	0.81801	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB3GAP1	135636593	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.574000	0.90763	2.324000	0.78689	0.533000	0.62120	.		0.488	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	Intron	G	135920123	A	G	135920123	5	3	43	1	0	0	0	0	0	0	1	0	12935	202	7	2	2366	2	RAB3GAP1	2	135920123	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	7595878	135920123	107279250	126	3303											
LCT	3938	broad.mit.edu;bcgsc.ca	37	chr2	136547323	136547323	+	Missense_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	cccactcaaaattgtccatcGcactccaaactgtgtatcct	11	11	4	15	1	1	0	1	0	0	0	5	0	4	0	4	0	1	2	4	0	4	2	rs183725992		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:136547323G>A	ENST00000264162.2	-	16	5391	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1794	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)	ATTGTCCATCGCACTCCAAAC	0.483													G|||	1	0.000199681	0	0.0014	5008	,	,		21694	0		0	False		,,,				2504	0					.											0													143	136	138					2																	136547323		2203	4300	6503	SO:0001583	missense	3938			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.5381C>T	2.37:g.136547323G>A	ENSP00000264162:p.Ala1794Val		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.72	3.200915	0.58234	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.74	4.49	0.54785	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.758642	0.12190	N	0.491292	T	0.17492	0.0420	N	0.05012	-0.13	0.30009	N	0.81537	B	0.09022	0.002	B	0.12837	0.008	T	0.13818	-1.0495	10	0.52906	T	0.07	-0.198	10.5282	0.44960	0.9161:0.0:0.0839:0.0	.	1794	P09848	LPH_HUMAN	V	1794	ENSP00000264162:A1794V	ENSP00000264162:A1794V	A	-	2	0	LCT	136263793	1.000000	0.71417	0.709000	0.30452	0.987000	0.75469	5.364000	0.66110	0.885000	0.36088	-0.253000	0.11424	GCG		0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136547323	G	A	136547323	3	1	43	1	0	0	0	0	1	0	0	0	8693	1087	38	1	410	1	LCT	2	136547323	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	627200	136547323	106652050	127	3304											
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu	37	chr2	165578972	165578972	+	Frame_Shift_Del	DEL	A	A	-																															tactgcgttgaaaaaaactgAaaaaccctttattttctttc																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:165578972delA	ENST00000392717.2	-	6	840	c.836delT	c.(835-837)ttcfs	p.F279fs	COBLL1_ENST00000194871.6_Frame_Shift_Del_p.F307fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.F279fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	279						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						AAAAAAACTGAAAAACCCTTT	0.284																																						.											0													63	69	67					2																	165578972		2202	4299	6501	SO:0001589	frameshift_variant	22837			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.836delT	2.37:g.165578972delA	ENSP00000376478:p.Phe279fs		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37																																																																																					0.284	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		-	165578972	A	-	165578972	7	5	43	1	0	1	0	1	0	0	0	0	3654	246	9	0	2818	0	COBLL1	2	165578972	Frame_Shift_Del	DEL	A	TCGA-KN-8428-01A-11D-2310-10	29031649	165578972	77620401	128	3305	95	2									
COBLL1	22837	bcgsc.ca	37	chr2	165578973	165578973	+	Frame_Shift_Del	DEL	A	A	-																															actgcgttgaaaaaaactgaAaaaccctttattttctttct																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:165578973delA	ENST00000392717.2	-	6	839	c.835delT	c.(835-837)ttcfs	p.F279fs	COBLL1_ENST00000194871.6_Frame_Shift_Del_p.F307fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.F279fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	279						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						AAAAAACTGAAAAACCCTTTA	0.284																																						.											0													63	69	67					2																	165578973		2202	4299	6501	SO:0001589	frameshift_variant	22837			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.835delT	2.37:g.165578973delA	ENSP00000376478:p.Phe279fs		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37																																																																																					0.284	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		-	165578973	A	-	165578973	7	5	43	1	0	1	0	1	0	0	0	0	3654	14	1	0	2819	0	COBLL1	2	165578973	Frame_Shift_Del	DEL	A	TCGA-KN-8428-01A-11D-2310-10	1	165578973	77620400	129	3306	95	2									
XIRP2	129446	broad.mit.edu	37	chr2	168100185	168100185	+	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	aaaactgttcacagagaagaCgttgaaaagggagatgtaag	18	7	12	4	1	1	4	1	1	0	3	1	6	1	4	0	1	1	3	0	1	6	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:168100185C>T	ENST00000409195.1	+	9	2372	c.2283C>T	c.(2281-2283)gaC>gaT	p.D761D	XIRP2_ENST00000295237.9_Silent_p.D761D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.D539D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	586					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						ACAGAGAAGACGTTGAAAAGG	0.363																																						.											0													72	67	69					2																	168100185		1861	4088	5949	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2283C>T	2.37:g.168100185C>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168100185	C	T	168100185	2	4	43	1	0	0	0	0	0	0	0	1	17427	535	19	1		1	XIRP2	2	168100185	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2521212	168100185	75099188	130	3307											
METTL8	79828	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	172182369	172182369	+	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	accttttgtaaagaaatatgCtctggtaccatctcctcgaa	12	13	6	10	1	2	1	0	0	2	1	4	2	2	1	3	1	2	3	3	1	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:172182369C>G	ENST00000375258.4	-	9	1230	c.1015G>C	c.(1015-1017)Gca>Cca	p.A339P	METTL8_ENST00000463392.1_5'UTR	NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AAGAAATATGCTCTGGTACCA	0.289																																						.											0													45	45	45					2																	172182369		2199	4294	6493	SO:0001583	missense	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"tension-induced/inhibited protein"	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.1015G>C	2.37:g.172182369C>G	ENSP00000364407:p.Ala339Pro		Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.593825|4.593825	0.86953|0.86953	.|.	.|.	ENSG00000123600|ENSG00000123600	ENST00000375258|ENST00000438609	T|.	0.04049|.	3.72|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.187532|.	0.47455|.	D|.	0.000222|.	T|T	0.79787|0.79787	0.4506|0.4506	M|M	0.83223|0.83223	2.63|2.63	0.34421|0.34421	D|D	0.697469|0.697469	D;D|.	0.71674|.	0.998;0.995|.	D;P|.	0.64877|.	0.93;0.806|.	D|D	0.85163|0.85163	0.0993|0.0993	10|5	0.66056|.	D|.	0.02|.	-6.4851|-6.4851	19.597|19.597	0.95544|0.95544	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294;339|.	B4DLT0;B3KW44|.	.;.|.	P|T	339|174	ENSP00000364407:A339P|.	ENSP00000364407:A339P|.	A|S	-|-	1|2	0|0	METTL8|METTL8	171890615|171890615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.366000|5.366000	0.66122|0.66122	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.289	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		G	172182369	C	G	172182369	3	3	43	1	0	0	0	0	1	0	0	0	9507	797	28	5	216	5	METTL8	2	172182369	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4082184	172182369	71017004	131	3308											
TTN	7273	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	179460285	179460285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcaacaaatggacccaTgccaatactattttcagccg	12	11	6	12	1	2	0	2	0	1	0	3	1	2	1	3	1	4	0	3	1	5	4	rs372963343		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:179460285T>C	ENST00000591111.1	-	245	53097	c.52873A>G	c.(52873-52875)Atg>Gtg	p.M17625V	TTN_ENST00000342175.6_Missense_Mutation_p.M10393V|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M16698V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M10326V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M10201V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M19266V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17625	Fibronectin type-III 27. {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)			AATGGACCCATGCCAATACTA	0.373																																						.											0								T	VAL/MET,VAL/MET,VAL/MET,VAL/MET	0,3712		0,0,1856	41	39	39		31177,30976,50092,30601	4.9	1	2		39	1,8197		0,1,4098	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	21,21,21,21	0,1,5954	CC,CT,TT		0.0122,0.0,0.0084	benign,benign,benign,benign	10393/27119,10326/27052,16698/33424,10201/26927	179460285	1,11909	1856	4099	5955	SO:0001583	missense	7273			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.52873A>G	2.37:g.179460285T>C	ENSP00000465570:p.Met17625Val		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	14.31	2.496259	0.44352	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	6.07	4.9	0.64082	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23611	0.0571	N	0.01410	-0.885	0.33765	D	0.622356	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.14578	0.006;0.006;0.011;0.011	T	0.22591	-1.0212	9	0.87932	D	0	.	13.5887	0.61946	0.0:0.0:0.1296:0.8704	.	10201;10326;10393;17625	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	16698;10201;10393;10326;10199	ENSP00000343764:M16698V;ENSP00000434586:M10201V;ENSP00000340554:M10393V;ENSP00000352154:M10326V	ENSP00000340554:M10393V	M	-	1	0	TTN	179168531	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.991000	0.88244	1.099000	0.41499	0.477000	0.44152	ATG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179460285	T	C	179460285	3	2	43	1	0	0	0	0	1	0	0	0	16732	1464	51	4	50455	4	TTN	2	179460285	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	7277916	179460285	63739088	132	3309											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	179578856	179578856	+	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	tccaaggtacaggtgtctccCgtggtaacttttatggattc	8	14	10	9	1	1	0	0	0	1	0	4	1	2	1	2	4	2	2	2	4	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:179578856C>T	ENST00000591111.1	-	90	25802	c.25578G>A	c.(25576-25578)acG>acA	p.T8526T	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T7599T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.T8843T|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12691	Ig-like 68.				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)	p.T7599T(1)		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)			AGGTGTCTCCCGTGGTAACTT	0.378																																						.											1	Substitution - coding silent(1)	central_nervous_system(1)											69	63	65					2																	179578856		1834	4090	5924	SO:0001819	synonymous_variant	7273			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.25578G>A	2.37:g.179578856C>T			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																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179578856	C	T	179578856	2	4	43	1	0	0	0	0	0	0	0	1	16732	639	23	1		1	TTN	2	179578856	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	118571	179578856	63620517	133	3310											
STAT1	6772	ucsc.edu;bcgsc.ca	37	chr2	191848415	191848415	+	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	ccaaaggatggaggcccaacCgctcgggagctggctgacgt	9	5	15	12	3	0	1	0	1	0	0	1	4	0	4	3	5	2	3	3	5	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:191848415C>T	ENST00000361099.3	-	17	1786	c.1399G>A	c.(1399-1401)Ggt>Agt	p.G467S	STAT1_ENST00000392322.3_Missense_Mutation_p.G467S|STAT1_ENST00000392323.2_Missense_Mutation_p.G469S|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.G467S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	467					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)			GAGGCCCAACCGCTCGGGAGC	0.527																																						.											0													114	108	110					2																	191848415		2203	4300	6503	SO:0001583	missense	6772				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.1399G>A	2.37:g.191848415C>T	ENSP00000354394:p.Gly467Ser		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763457	0.89932	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.19	5.19	0.71726	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.044894	0.85682	D	0.000000	D	0.84352	0.5453	L	0.46614	1.455	0.80722	D	1	D;P	0.71674	0.998;0.581	D;B	0.66351	0.943;0.227	D	0.83613	0.0135	10	0.48119	T	0.1	-22.6387	19.2755	0.94030	0.0:1.0:0.0:0.0	.	467;467	P42224-2;P42224	.;STAT1_HUMAN	S	467;467;467;469	ENSP00000354394:G467S;ENSP00000386244:G467S;ENSP00000376136:G467S;ENSP00000376137:G469S	ENSP00000354394:G467S	G	-	1	0	STAT1	191556660	1.000000	0.71417	0.244000	0.24202	0.510000	0.34073	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GGT		0.527	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		T	191848415	C	T	191848415	3	4	43	1	0	0	0	0	1	0	0	0	15263	652	23	1	893	1	STAT1	2	191848415	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12269559	191848415	51350958	134	3311											
HSPD1	3329	broad.mit.edu;bcgsc.ca	37	chr2	198353083	198353083	+	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	tggagtcaatgagtccaaggCtggaatgcatcgaaggaggg	12	7	16	6	1	1	1	1	1	0	0	3	5	2	4	1	5	1	2	1	5	4	0	rs531108523		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:198353083C>T	ENST00000388968.3	-	10	1615	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	HSPD1_ENST00000345042.2_Missense_Mutation_p.A450T	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	450					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GAGTCCAAGGCTGGAATGCAT	0.393																																						.											0													52	50	51					2																	198353083		2203	4300	6503	SO:0001583	missense	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1348G>A	2.37:g.198353083C>T	ENSP00000373620:p.Ala450Thr		B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465020	0.63513	.	.	ENSG00000144381	ENST00000388968;ENST00000345042	T;T	0.79033	-1.23;-1.23	5.39	5.39	0.77823	.	0.148886	0.64402	D	0.000014	T	0.81550	0.4846	M	0.63428	1.95	0.80722	D	1	B;B;P	0.40000	0.026;0.026;0.698	B;B;P	0.45753	0.056;0.056;0.492	T	0.81627	-0.0847	10	0.49607	T	0.09	-3.9209	19.5044	0.95110	0.0:1.0:0.0:0.0	.	441;450;450	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	T	450	ENSP00000373620:A450T;ENSP00000340019:A450T	ENSP00000340019:A450T	A	-	1	0	HSPD1	198061328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.512000	0.53407	2.685000	0.91497	0.555000	0.69702	GCC		0.393	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		T	198353083	C	T	198353083	3	4	43	1	0	0	0	0	1	0	0	0	7428	797	28	4	385	4	HSPD1	2	198353083	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6504668	198353083	44846290	135	3312											
NBEAL1	65065	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	204002940	204002940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacagagaagcaaaaactAatccagtaactgctgaaaac	22	5	6	8	0	0	2	0	1	0	1	1	3	1	2	1	0	6	3	1	0	9	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:204002940A>G	ENST00000449802.1	+	29	4867	c.4534A>G	c.(4534-4536)Aat>Gat	p.N1512D		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1512										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						AGCAAAAACTAATCCAGTAAC	0.393																																						.											0													96	86	89					2																	204002940		1854	4093	5947	SO:0001583	missense	65065			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.4534A>G	2.37:g.204002940A>G	ENSP00000399903:p.Asn1512Asp		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	7.467	0.645890	0.14451	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.52295	0.67	5.61	5.61	0.85477	.	0.339152	0.26156	N	0.026006	T	0.35508	0.0934	L	0.40543	1.245	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.016	T	0.22208	-1.0223	10	0.09843	T	0.71	.	11.1297	0.48339	0.7252:0.2748:0.0:0.0	.	1512;1501	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	D	1512	ENSP00000399903:N1512D	ENSP00000344985:N1512D	N	+	1	0	NBEAL1	203711185	0.982000	0.34865	0.669000	0.29828	0.995000	0.86356	5.109000	0.64615	2.141000	0.66446	0.533000	0.62120	AAT		0.393	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			G	204002940	A	G	204002940	3	3	43	1	0	0	0	0	1	0	0	0	10188	362	13	4	4644	4	NBEAL1	2	204002940	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5649857	204002940	39196433	136	3313											
PIKFYVE	200576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	209214769	209214769	+	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	tgaagtagatggaggagataCacaaaagaagcaactcataa	20	6	10	5	0	1	4	1	1	0	3	1	6	1	5	0	2	3	2	0	2	8	3	rs147015179		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:209214769C>T	ENST00000264380.4	+	36	5554	c.5396C>T	c.(5395-5397)aCa>aTa	p.T1799I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1799	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.T1799I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGAGGAGATACACAAAAGAAG	0.348													C|||	1	0.000199681	0	0.0014	5008	,	,		13680	0		0	False		,,,				2504	0					.											1	Substitution - Missense(1)	large_intestine(1)						C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	115	117	116		5396	4.9	1	2	dbSNP_134	116	0,8598		0,0,4299	no	missense	PIKFYVE	NM_015040.3	89	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1799/2099	209214769	1,13003	2203	4299	6502	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5396C>T	2.37:g.209214769C>T	ENSP00000264380:p.Thr1799Ile		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.04	2.417161	0.42918	2.27E-4	0.0	ENSG00000115020	ENST00000264380	T	0.29397	1.57	5.75	4.87	0.63330	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.527367	0.21560	N	0.072593	T	0.16685	0.0401	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.15484	0.013	T	0.07195	-1.0785	10	0.37606	T	0.19	0.2043	6.1812	0.20472	0.1366:0.6582:0.1323:0.0728	.	1799	Q9Y2I7	FYV1_HUMAN	I	1799	ENSP00000264380:T1799I	ENSP00000264380:T1799I	T	+	2	0	PIKFYVE	208923014	0.996000	0.38824	0.959000	0.39883	0.981000	0.71138	2.550000	0.45811	1.436000	0.47453	0.655000	0.94253	ACA		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		T	209214769	C	T	209214769	3	4	43	1	0	0	0	0	1	0	0	0	11924	478	17	4	5545	4	PIKFYVE	2	209214769	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5211829	209214769	33984604	137	3314											
ACCN4	55515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	220379312	220379312	+	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	cctcgggcccccaccctgtcCctgtcctcttcccgcttgcc	1	10	7	23	2	1	0	0	0	1	0	5	0	4	0	8	1	1	1	8	1	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:220379312C>A	ENST00000347842.3	+	1	261	c.247C>A	c.(247-249)Cct>Act	p.P83T	ASIC4_ENST00000358078.4_Missense_Mutation_p.P83T|AC053503.11_ENST00000429882.1_RNA	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	83					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CCACCCTGTCCCTGTCCTCTT	0.687																																						.											0													12	13	13					2																	220379312		2190	4291	6481	SO:0001583	missense	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.247C>A	2.37:g.220379312C>A	ENSP00000326627:p.Pro83Thr		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922747	0.52653	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.67171	-0.24;-0.25	4.73	3.85	0.44370	.	.	.	.	.	T	0.45498	0.1345	N	0.08118	0	0.27326	N	0.956917	B;B;B	0.31174	0.063;0.103;0.311	B;B;B	0.30646	0.026;0.058;0.118	T	0.39722	-0.9600	9	0.49607	T	0.09	-2.4131	9.1116	0.36732	0.0:0.8966:0.0:0.1034	.	83;83;83	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	T	83	ENSP00000326627:P83T;ENSP00000350786:P83T	ENSP00000326627:P83T	P	+	1	0	ACCN4	220087556	0.582000	0.26749	0.526000	0.27913	0.817000	0.46193	2.772000	0.47678	1.103000	0.41568	0.561000	0.74099	CCT		0.687	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		A	220379312	C	A	220379312	3	1	43	1	0	0	0	0	1	0	0	0	131	623	22	5	249	5	ACCN4	2	220379312	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11164543	220379312	22820061	138	3315											
OBSL1	23363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	220435086	220435086	+	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	cgcggtacatgaggcggcggCggtccgggagcagcgggcgg	5	3	22	11	8	0	1	0	1	0	0	1	2	1	2	1	8	3	2	1	8	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:220435086C>T	ENST00000404537.1	-	1	925	c.869G>A	c.(868-870)cGc>cAc	p.R290H	OBSL1_ENST00000603926.1_Missense_Mutation_p.R290H|OBSL1_ENST00000491370.1_5'Flank|INHA_ENST00000243786.2_5'Flank|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.R290H|OBSL1_ENST00000265318.4_Missense_Mutation_p.R290H|OBSL1_ENST00000373873.4_Missense_Mutation_p.R290H|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	290	Ig-like 3.				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)		GAGGCGGCGGCGGTCCGGGAG	0.682																																						.											0													20	26	24					2																	220435086		2007	4140	6147	SO:0001583	missense	23363			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.869G>A	2.37:g.220435086C>T	ENSP00000385636:p.Arg290His		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526696	0.96431	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.39	4.39	0.52855	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81182	0.4769	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82246	-0.0552	9	0.52906	T	0.07	.	17.4831	0.87679	0.0:1.0:0.0:0.0	.	290;290	O75147;O75147-2	OBSL1_HUMAN;.	H	290	ENSP00000265318:R290H;ENSP00000385636:R290H;ENSP00000362983:R290H;ENSP00000362980:R290H	ENSP00000265318:R290H	R	-	2	0	OBSL1	220143330	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.751000	0.68720	2.434000	0.82447	0.407000	0.27541	CGC		0.682	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220435086	C	T	220435086	3	4	43	1	0	0	0	0	1	0	0	0	10813	768	27	1	5057	1	OBSL1	2	220435086	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	55774	220435086	22764287	139	3316											
DOCK10	55619	broad.mit.edu	37	chr2	225684245	225684245	+	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	ggtccataaatgtaaagcagCgctaaaatagataaaattct	18	10	7	6	1	1	1	0	0	1	1	2	1	2	1	1	1	2	3	1	1	9	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:225684245C>T	ENST00000258390.7	-	29	3252	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	DOCK10_ENST00000409592.3_Splice_Site_p.R1056H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1062					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTAAAGCAGCGCTAAAATAG	0.308																																						.											0													88	84	85					2																	225684245		1817	4072	5889	SO:0001630	splice_region_variant	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3184-1G>A	2.37:g.225684245C>T			B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944537	0.73672	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.24538	1.85;1.85	6.15	6.15	0.99193	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.60026	-0.7343	10	0.87932	D	0	.	20.8387	0.99724	0.0:1.0:0.0:0.0	.	1062;1056	Q96BY6;B3FL70	DOC10_HUMAN;.	H	1056;1062	ENSP00000386694:R1056H;ENSP00000258390:R1062H	ENSP00000258390:R1062H	R	-	2	0	DOCK10	225392489	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	4.856000	0.62932	2.932000	0.99384	0.643000	0.83706	CGC		0.308	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Missense_Mutation	T	225684245	C	T	225684245	5	4	43	1	0	0	0	0	0	0	1	0	4685	782	27	1	3487	1	DOCK10	2	225684245	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5249159	225684245	17515128	140	3317											
PID1	55022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	230127481	230127481	+	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	ctggagaagaacatgtcctcGactcttctaacatcaggtgg	11	10	10	10	1	3	2	1	0	2	2	5	4	4	2	1	3	2	0	1	3	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:230127481G>A	ENST00000392054.3	-	2	380	c.41C>T	c.(40-42)tCg>tTg	p.S14L	PID1_ENST00000392055.3_Intron|PID1_ENST00000409462.1_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	0					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		acatgtcctcgactcttctaa	0.468																																						.											0													211	207	208					2																	230127481		1327	2309	3636	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000392054.3:c.41C>T	2.37:g.230127481G>A	ENSP00000375907:p.Ser14Leu		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000392054.3	37	CCDS2471.1	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966064	0.18659	.	.	ENSG00000153823	ENST00000392054	.	.	.	2.98	-2.74	0.05932	.	.	.	.	.	T	0.21509	0.0518	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21895	-1.0232	6	.	.	.	.	5.5214	0.16936	0.2302:0.493:0.2769:0.0	.	14	Q7Z2X4-2	.	L	14	.	.	S	-	2	0	PID1	229835725	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.752000	0.04797	-0.680000	0.05211	-0.371000	0.07208	TCG		0.468	PID1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331809.1	NM_017933		A	230127481	G	A	230127481	3	1	43	1	0	0	0	0	1	0	0	0	11882	1059	37	1	717	1	PID1	2	230127481	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4443236	230127481	13071892	141	3318											
C2orf57	165100	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	232458786	232458786	+	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	cgtggagggcatccgctcagCcatgcgctacctgaccagcc	7	6	12	16	3	1	1	1	1	0	0	2	2	2	2	5	2	4	3	5	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:232458786C>T	ENST00000313965.2	+	1	1212	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	375										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)		ATCCGCTCAGCCATGCGCTAC	0.647																																						.											0													49	45	46					2																	232458786		2203	4300	6503	SO:0001583	missense	165100			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.1124C>T	2.37:g.232458786C>T	ENSP00000315557:p.Ala375Val		Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593729	0.46214	.	.	ENSG00000177673	ENST00000313965	T	0.30448	1.53	5.15	5.15	0.70609	.	0.249622	0.21052	N	0.080972	T	0.43344	0.1243	L	0.29908	0.895	0.09310	N	0.999999	D	0.76494	0.999	D	0.76071	0.987	T	0.26883	-1.0090	10	0.72032	D	0.01	.	13.9928	0.64378	0.0:1.0:0.0:0.0	.	375	Q53QW1	CB057_HUMAN	V	375	ENSP00000315557:A375V	ENSP00000315557:A375V	A	+	2	0	C2orf57	232167030	0.629000	0.27146	0.081000	0.20488	0.037000	0.13140	3.303000	0.51858	2.683000	0.91414	0.557000	0.71058	GCC		0.647	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		T	232458786	C	T	232458786	3	4	43	1	0	0	0	0	1	0	0	0	2178	739	26	3	1126	3	C2orf57	2	232458786	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2331305	232458786	10740587	142	3319											
ILKAP	80895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	239079272	239079272	+	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	gttgcaggctgcttcgtagcGggcgtcggctgcggacttcc	3	10	16	12	5	0	0	0	0	0	0	3	1	1	1	1	4	4	6	1	4	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:239079272G>A	ENST00000254654.3	-	12	1259	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	362	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GCTTCGTAGCGGGCGTCGGCT	0.607																																						.											0													43	43	43					2																	239079272		2203	4300	6503	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1084C>T	2.37:g.239079272G>A	ENSP00000254654:p.Arg362Cys		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464041	0.63513	.	.	ENSG00000132323	ENST00000254654	T	0.17691	2.26	5.69	4.74	0.60224	Protein phosphatase 2C-like (5);	0.112628	0.64402	D	0.000012	T	0.35422	0.0931	L	0.58101	1.795	0.54753	D	0.999988	D	0.76494	0.999	D	0.65443	0.935	T	0.01185	-1.1425	10	0.38643	T	0.18	-0.4038	15.2411	0.73471	0.0:0.0:0.8185:0.1815	.	362	Q9H0C8	ILKAP_HUMAN	C	362	ENSP00000254654:R362C	ENSP00000254654:R362C	R	-	1	0	ILKAP	238744011	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.097000	0.50251	2.688000	0.91661	0.563000	0.77884	CGC		0.607	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		A	239079272	G	A	239079272	3	1	43	1	0	0	0	0	1	0	0	0	7714	1116	39	1	98	1	ILKAP	2	239079272	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6620486	239079272	4120101	143	3320											
TRNT1	51095	broad.mit.edu	37	chr3	3179092	3179092	+	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	tttcagtcggctgggattcgGatgataaacaacagaggaga	13	9	13	6	2	1	3	1	1	0	2	3	6	1	5	0	4	2	1	0	4	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:3179092G>C	ENST00000251607.6	+	3	399	c.297G>C	c.(295-297)cgG>cgC	p.R99R	TRNT1_ENST00000280591.6_Silent_p.R99R	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	99					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CTGGGATTCGGATGATAAACA	0.393																																						.											0													78	81	80					3																	3179092		2203	4300	6503	SO:0001819	synonymous_variant	51095			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.297G>C	3.37:g.3179092G>C			A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	CCDS2561.2																																																																																				0.393	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			C	3179092	G	C	3179092	2	2	43	1	0	0	0	0	0	0	0	1	16570	1161	41	5		5	TRNT1	3	3179092	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10		3179092	194843338	144	3321											
CIDEC	63924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	9918797	9918797	+	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	agccatgatgcccttcctcaCgcttcgatccgccgtgctta	6	11	8	16	4	1	1	1	1	0	0	4	2	3	1	5	0	3	2	5	0	1	3	rs148744468		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:9918797C>T	ENST00000336832.2	-	3	299	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	CIDEC_ENST00000383817.1_Missense_Mutation_p.V54M|CIDEC_ENST00000430427.1_Missense_Mutation_p.V54M|CIDEC_ENST00000423850.1_Intron|CIDEC_ENST00000443115.1_Missense_Mutation_p.V54M|CIDEC_ENST00000455015.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	54	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CCCTTCCTCACGCTTCGATCC	0.647																																						.											0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4330		0,0,2165	54	42	46		160,160,199,160	1.5	0.1	3	dbSNP_134	46	1,8485		0,1,4242	no	missense,missense,missense,missense	CIDEC	NM_001199551.1,NM_001199552.1,NM_001199623.1,NM_022094.3	21,21,21,21	0,1,6407	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/249,54/239,67/252,54/239	9918797	1,12815	2165	4243	6408	SO:0001583	missense	63924				CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.160G>A	3.37:g.9918797C>T	ENSP00000338642:p.Val54Met		C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631938	0.29068	0.0	1.18E-4	ENSG00000187288	ENST00000336832;ENST00000383817;ENST00000430427;ENST00000443115	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.3	1.45	0.22620	Caspase-activated nuclease CIDE-N (3);	0.483231	0.22273	N	0.062225	T	0.32556	0.0833	M	0.76574	2.34	0.09310	N	1	P;P;B	0.47034	0.889;0.586;0.063	B;B;B	0.34138	0.154;0.176;0.044	T	0.29941	-0.9995	10	0.45353	T	0.12	-14.8423	5.16	0.15056	0.0:0.4801:0.2798:0.2401	.	54;54;54	Q96AQ7-3;Q96AQ7;C9JMN7	.;CIDEC_HUMAN;.	M	54	ENSP00000338642:V54M;ENSP00000373328:V54M;ENSP00000408631:V54M;ENSP00000411356:V54M	ENSP00000338642:V54M	V	-	1	0	CIDEC	9893797	0.000000	0.05858	0.055000	0.19348	0.047000	0.14425	-0.264000	0.08658	0.377000	0.24735	-0.133000	0.14855	GTG		0.647	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		T	9918797	C	T	9918797	3	4	43	1	0	0	0	0	1	0	0	0	3427	536	19	1	572	1	CIDEC	3	9918797	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6739705	9918797	188103633	145	3322											
SLC6A11	6538	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	10960101	10960101	+	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	gtcctgggttttatggcgtaCgagcagggggtacccattgc	6	11	15	9	2	0	0	0	0	0	0	1	1	1	0	2	4	4	4	2	4	3	5	rs144421280	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:10960101C>T	ENST00000254488.2	+	8	1149	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	361					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TTATGGCGTACGAGCAGGGGG	0.572													C|||	2	0.000399361	0	0	5008	,	,		20821	0.002		0	False		,,,				2504	0					.											0													124	102	110					3																	10960101		2203	4300	6503	SO:0001819	synonymous_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1083C>T	3.37:g.10960101C>T			B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																				0.572	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		T	10960101	C	T	10960101	2	4	43	1	0	0	0	0	0	0	0	1	14674	547	19	1		1	SLC6A11	3	10960101	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1041304	10960101	187062329	146	3323											
CAND2	23066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	12858741	12858741	+	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	ctggtagggacccgtcccccGtgtgtggactatgccaaact	7	9	12	13	2	0	0	0	0	0	0	1	2	1	2	4	3	2	1	4	3	3	2	rs371560476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:12858741G>A	ENST00000456430.2	+	10	2351	c.2310G>A	c.(2308-2310)ccG>ccA	p.P770P	CAND2_ENST00000295989.5_Silent_p.P677P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	770					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						CCCGTCCCCCGTGTGTGGACT	0.627																																					GBM(43;676 868 1633 6395 37496)	.											0								G	,	0,4074		0,0,2037	41	45	43		2310,2031	-8.3	0	3		43	1,8363		0,1,4181	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6218	AA,AG,GG		0.012,0.0,0.0080	,	770/1237,677/1120	12858741	1,12437	2037	4182	6219	SO:0001819	synonymous_variant	23066				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.2310G>A	3.37:g.12858741G>A			B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	CCDS54554.1																																																																																				0.627	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		A	12858741	G	A	12858741	2	1	43	1	0	0	0	0	0	0	0	1	2616	1132	40	1		1	CAND2	3	12858741	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1898640	12858741	185163689	147	3324											
C3orf20	84077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	14724594	14724594	+	Missense_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	cctctctcccaccatggcccGtcaggtgcgcacccaccagg	6	6	9	20	2	2	0	1	0	1	0	4	0	3	0	6	3	1	1	6	3	0	0	rs145497672		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:14724594G>A	ENST00000253697.3	+	3	826	c.374G>A	c.(373-375)cGt>cAt	p.R125H	C3orf20_ENST00000435614.1_Missense_Mutation_p.R3H|C3orf20_ENST00000412910.1_Missense_Mutation_p.R3H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	125						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACCATGGCCCGTCAGGTGCGC	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		18501	0		0	False		,,,				2504	0					.											0								G	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	48	47	48		8,8,374	-7.1	0	3	dbSNP_134	48	0,8600		0,0,4300	yes	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	29,29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	3/783,3/783,125/905	14724594	4,13002	2203	4300	6503	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.374G>A	3.37:g.14724594G>A	ENSP00000253697:p.Arg125His		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265751	0.23136	9.08E-4	0.0	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09350	3.37;2.99;2.99	4.51	-7.14	0.01527	.	1.704600	0.03351	N	0.196276	T	0.05914	0.0154	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31641	-0.9936	10	0.27082	T	0.32	1.064	10.1083	0.42546	0.6525:0.0982:0.2493:0.0	.	125	Q8ND61	CC020_HUMAN	H	125;3;3	ENSP00000253697:R125H;ENSP00000402933:R3H;ENSP00000396081:R3H	ENSP00000253697:R125H	R	+	2	0	C3orf20	14699598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.418000	0.02462	-1.708000	0.01401	-1.864000	0.00558	CGT		0.622	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14724594	G	A	14724594	3	1	43	1	0	0	0	0	1	0	0	0	2213	1145	40	1	376	1	C3orf20	3	14724594	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1865853	14724594	183297836	148	3325											
EFHB	151651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	19921161	19921161	+	Missense_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	cttgatccggtctgcatgccGtagctcatctagaacatttc	8	13	8	12	2	3	2	1	1	2	1	5	2	4	2	2	1	4	3	2	1	3	4	rs368362844		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:19921161G>A	ENST00000295824.9	-	13	2625	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	EFHB_ENST00000344838.4_Missense_Mutation_p.R692W	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	822							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTGCATGCCGTAGCTCATCT	0.343																																						.											0								G	TRP/ARG	0,4406		0,0,2203	226	207	214		2464	4.7	0	3		214	1,8599	1.2+/-3.3	0,1,4299	no	missense	EFHB	NM_144715.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	822/834	19921161	1,13005	2203	4300	6503	SO:0001583	missense	151651			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.2464C>T	3.37:g.19921161G>A	ENSP00000295824:p.Arg822Trp		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526148	0.27299	0.0	1.16E-4	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.24350	1.86;1.87	5.57	4.7	0.59300	.	0.302763	0.31167	N	0.008136	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	P;D	0.56968	0.923;0.978	B;B	0.43916	0.436;0.226	T	0.07290	-1.0780	9	.	.	.	-0.4946	10.3889	0.44156	0.0901:0.0:0.9099:0.0	.	692;822	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	W	822;692	ENSP00000295824:R822W;ENSP00000342263:R692W	.	R	-	1	2	EFHB	19896165	0.516000	0.26218	0.037000	0.18230	0.109000	0.19521	1.787000	0.38704	1.360000	0.45960	-0.136000	0.14681	CGG		0.343	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		A	19921161	G	A	19921161	3	1	43	1	0	0	0	0	1	0	0	0	4945	1144	40	1	41	1	EFHB	3	19921161	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5196567	19921161	178101269	149	3326											
GADL1	339896	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	30769804	30769804	+	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	cctcccggctcacttgagggCtgatcaccacctggcggaag	7	7	12	15	2	2	2	2	2	0	0	3	3	3	3	4	4	0	2	4	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:30769804C>T	ENST00000282538.5	-	15	1646	c.1496G>A	c.(1495-1497)aGc>aAc	p.S499N	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	499					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						CACTTGAGGGCTGATCACCAC	0.552																																						.											0													130	119	123					3																	30769804		2203	4300	6503	SO:0001583	missense	339896			AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1496G>A	3.37:g.30769804C>T	ENSP00000282538:p.Ser499Asn			Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	4.865	0.160842	0.09287	.	.	ENSG00000144644	ENST00000282538	T	0.32753	1.44	5.91	5.04	0.67666	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095913	0.64402	D	0.000002	T	0.11707	0.0285	N	0.02120	-0.675	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.16188	-1.0411	10	0.02654	T	1	-0.3994	14.9266	0.70884	0.0:0.9317:0.0:0.0683	.	499	Q6ZQY3	GADL1_HUMAN	N	499	ENSP00000282538:S499N	ENSP00000282538:S499N	S	-	2	0	GADL1	30744808	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.242000	0.32755	1.501000	0.48654	0.655000	0.94253	AGC		0.552	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		T	30769804	C	T	30769804	3	4	43	1	0	0	0	0	1	0	0	0	6185	797	28	4	73	4	GADL1	3	30769804	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	10848643	30769804	167252626	150	3327											
STT3B	201595	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	31617961	31617961	+	Missense_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	taaattggtttgatgaaagaGcatggtatccactaggaaga	15	11	11	4	0	0	4	0	2	0	2	1	5	1	5	1	3	1	3	1	3	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:31617961G>A	ENST00000295770.2	+	2	597	c.388G>A	c.(388-390)Gca>Aca	p.A130T	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	130					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						TGATGAAAGAGCATGGTATCC	0.289																																						.											0													104	109	107					3																	31617961		2203	4294	6497	SO:0001583	missense	201595			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.388G>A	3.37:g.31617961G>A	ENSP00000295770:p.Ala130Thr		Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942467	0.73672	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63510	-0.6621	9	0.10377	T	0.69	-13.3357	19.7278	0.96172	0.0:0.0:1.0:0.0	.	130	Q8TCJ2	STT3B_HUMAN	T	130	.	ENSP00000295770:A130T	A	+	1	0	STT3B	31592965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	GCA		0.289	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		A	31617961	G	A	31617961	3	1	43	1	0	0	0	0	1	0	0	0	15333	971	34	4	394	4	STT3B	3	31617961	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	848157	31617961	166404469	151	3328											
DCLK3	85443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	36759593	36759593	+	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	cctggtccctctcagggctgCggaatgggggaaagccacac	8	6	14	13	1	1	0	1	0	1	0	3	2	2	2	3	5	2	1	3	5	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:36759593C>T	ENST00000416516.2	-	4	2151	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	554	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			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						CTCAGGGCTGCGGAATGGGGG	0.552																																						.											0													153	166	162					3																	36759593		2066	4229	6295	SO:0001583	missense	85443			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.1661G>A	3.37:g.36759593C>T	ENSP00000394484:p.Arg554His			Missense_Mutation	SNP	ENST00000416516.2	37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921101	0.92249	.	.	ENSG00000163673	ENST00000416516	T	0.66280	-0.2	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32147	N	0.006510	T	0.74076	0.3669	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73688	-0.3904	10	0.52906	T	0.07	.	19.7913	0.96458	0.0:1.0:0.0:0.0	.	554	Q9C098	DCLK3_HUMAN	H	554	ENSP00000394484:R554H	ENSP00000394484:R554H	R	-	2	0	DCLK3	36734597	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.818000	0.86416	2.765000	0.95021	0.555000	0.69702	CGC		0.552	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		T	36759593	C	T	36759593	3	4	43	1	0	0	0	0	1	0	0	0	4293	768	27	1	293	1	DCLK3	3	36759593	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5141632	36759593	161262837	152	3329											
SLC22A13	9390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	38316965	38316965	+	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	caataggcggaaactctcccCggagctcatgaaccaggtac	12	6	10	13	2	2	1	1	1	1	0	3	3	2	3	3	4	4	2	3	4	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:38316965C>T	ENST00000311856.4	+	5	960	c.911C>T	c.(910-912)cCg>cTg	p.P304L	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	304					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)		AAACTCTCCCCGGAGCTCATG	0.602																																						.											0													58	58	58					3																	38316965		2203	4300	6503	SO:0001583	missense	9390			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.911C>T	3.37:g.38316965C>T	ENSP00000310241:p.Pro304Leu		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	C	4.118	0.020056	0.08006	.	.	ENSG00000172940	ENST00000311856	T	0.74315	-0.83	4.84	2.9	0.33743	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.289868	0.39146	N	0.001457	T	0.59266	0.2181	L	0.35542	1.07	0.19775	N	0.999958	B;B	0.17268	0.017;0.021	B;B	0.15484	0.008;0.013	T	0.44436	-0.9328	10	0.25751	T	0.34	.	8.7276	0.34478	0.1484:0.7713:0.0:0.0803	.	304;304	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	L	304	ENSP00000310241:P304L	ENSP00000310241:P304L	P	+	2	0	SLC22A13	38291969	0.000000	0.05858	0.002000	0.10522	0.169000	0.22640	0.837000	0.27558	1.174000	0.42811	0.655000	0.94253	CCG		0.602	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		T	38316965	C	T	38316965	3	4	43	1	0	0	0	0	1	0	0	0	14444	652	23	1	929	1	SLC22A13	3	38316965	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1557372	38316965	159705465	153	3330											
ZNF621	285268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	40573994	40573994	+	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	aagagtgtggaaaggctttcCgtaggagtgcggcatacctg	10	9	15	7	2	0	1	0	0	0	1	1	3	1	3	2	4	2	3	2	4	4	3	rs144763141		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:40573994C>T	ENST00000339296.5	+	5	1185	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.R134C|ZNF621_ENST00000403205.2_Missense_Mutation_p.R245C	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AAAGGCTTTCCGTAGGAGTGC	0.453																																						.											0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	85	90	89		733,733	3.1	1	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF621	NM_001098414.1,NM_198484.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	245/440,245/440	40573994	1,13005	2203	4300	6503	SO:0001583	missense	285268			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.733C>T	3.37:g.40573994C>T	ENSP00000340841:p.Arg245Cys		Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	5.829	0.337228	0.11013	0.0	1.16E-4	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.18502	2.21;2.21;2.21	3.94	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206892	0.24409	N	0.038765	T	0.26702	0.0653	L	0.43554	1.36	0.80722	D	1	B;D	0.76494	0.06;0.999	B;P	0.61658	0.013;0.892	T	0.01169	-1.1430	10	0.44086	T	0.13	.	9.8917	0.41294	0.0:0.8967:0.0:0.1033	.	134;245	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	C	245;245;134	ENSP00000386051:R245C;ENSP00000340841:R245C;ENSP00000413236:R134C	ENSP00000340841:R245C	R	+	1	0	ZNF621	40548998	0.000000	0.05858	0.955000	0.39395	0.054000	0.15201	-1.398000	0.02509	1.251000	0.43983	-0.253000	0.11424	CGT		0.453	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		T	40573994	C	T	40573994	3	4	43	1	0	0	0	0	1	0	0	0	18042	652	23	1	747	1	ZNF621	3	40573994	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2257029	40573994	157448436	154	3331											
CTNNB1	1499	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	41266964	41266964	+	Missense_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	aaatgatgtagaaacagctcGttgtaccgctgggaccttgc	11	10	11	9	2	0	2	0	1	0	1	1	3	0	3	2	1	4	5	2	1	4	4	rs200890083		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:41266964G>A	ENST00000349496.5	+	5	915	c.635G>A	c.(634-636)cGt>cAt	p.R212H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R212H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R212H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R205H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R212H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	212					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GAAACAGCTCGTTGTACCGCT	0.478		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				G|||	1	0.000199681	0	0	5008	,	,		21147	0		0.001	False		,,,				2504	0				Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0													102	98	99					3																	41266964		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.635G>A	3.37:g.41266964G>A	ENSP00000344456:p.Arg212His		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.27	3.794849	0.70452	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	M	0.74647	2.275	0.80722	D	1	P;P	0.36378	0.55;0.55	B;B	0.26094	0.044;0.066	T	0.69072	-0.5242	10	0.87932	D	0	-14.4568	19.8405	0.96681	0.0:0.0:1.0:0.0	.	140;212	B4DSW9;P35222	.;CTNB1_HUMAN	H	212;212;212;205;212	ENSP00000385604:R212H;ENSP00000379486:R212H;ENSP00000344456:R212H;ENSP00000411226:R205H;ENSP00000379488:R212H	ENSP00000344456:R212H	R	+	2	0	CTNNB1	41241968	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	CGT		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		A	41266964	G	A	41266964	3	1	43	1	0	0	0	0	1	0	0	0	4016	1145	40	1	649	1	CTNNB1	3	41266964	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	692970	41266964	156755466	155	3332											
ZNF197	10168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	44684294	44684294	+	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	cttatcttattgaccatcagCgactccacagtgcagagaac	12	10	7	12	1	2	2	1	1	1	1	3	4	3	2	2	0	3	1	2	0	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:44684294C>T	ENST00000396058.1	+	5	1839	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R558*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TGACCATCAGCGACTCCACAG	0.428																																						.											0													76	82	80					3																	44684294		2203	4299	6502	SO:0001587	stop_gained	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1672C>T	3.37:g.44684294C>T	ENSP00000379370:p.Arg558*		B2RAH8|Q86VG0	Nonsense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289130	0.95517	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	.	.	.	3.63	2.74	0.32292	.	0.000000	0.28465	U	0.015256	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6139	0.04899	0.1945:0.5128:0.1883:0.1044	.	.	.	.	X	558	.	ENSP00000345809:R558X	R	+	1	2	ZNF197	44659298	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.058000	0.14301	1.080000	0.41073	0.454000	0.30748	CGA		0.428	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		T	44684294	C	T	44684294	4	4	43	1	0	0	0	0	0	1	0	0	17756	760	27	1	1690	1	ZNF197	3	44684294	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3417330	44684294	153338136	156	3333											
PLXNB1	5364	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	48462160	48462160	+	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	acaccagttacacccccagcGgctgctcacacaggcctggc	9	5	9	18	1	1	0	1	0	0	0	1	0	1	0	4	3	3	3	4	3	1	1	rs555355943		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:48462160G>A	ENST00000358536.4	-	10	2211	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R648C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R648C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R648C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	648					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)		CACCCCCAGCGGCTGCTCACA	0.637													G|||	1	0.000199681	0	0	5008	,	,		17417	0		0	False		,,,				2504	0.001					.											0													47	43	44					3																	48462160		2203	4300	6503	SO:0001583	missense	5364			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.1942C>T	3.37:g.48462160G>A	ENSP00000351338:p.Arg648Cys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.610071	0.66558	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03580	3.88;3.9;3.88;3.9	5.24	3.35	0.38373	.	0.414294	0.24022	N	0.042266	T	0.08670	0.0215	M	0.71036	2.16	0.80722	D	1	P;P	0.52170	0.923;0.951	B;P	0.48901	0.232;0.594	T	0.02115	-1.1211	10	0.56958	D	0.05	.	10.9355	0.47243	0.0:0.2377:0.6355:0.1267	.	648;648	O43157;O43157-2	PLXB1_HUMAN;.	C	648	ENSP00000296440:R648C;ENSP00000351242:R648C;ENSP00000351338:R648C;ENSP00000414199:R648C	ENSP00000296440:R648C	R	-	1	0	PLXNB1	48437164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.903000	0.48711	2.468000	0.83385	0.561000	0.74099	CGC		0.637	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48462160	G	A	48462160	3	1	43	1	0	0	0	0	1	0	0	0	12123	1116	39	1	4581	1	PLXNB1	3	48462160	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3777866	48462160	149560270	157	3334											
COL7A1	1294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	48626075	48626075	+	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	ccagcgcatgctctgcctacGcgtagtgacaacaatggaga	11	7	11	12	3	1	2	0	1	1	1	1	3	1	2	2	1	5	3	2	1	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:48626075G>A	ENST00000328333.8	-	19	2694	c.2587C>T	c.(2587-2589)Ccg>Tcg	p.P863S	COL7A1_ENST00000454817.1_Splice_Site_p.P863S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	863	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGCCTACGCGTAGTGACA	0.582																																						.											0													68	71	70					3																	48626075		2203	4300	6503	SO:0001630	splice_region_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2587+1C>T	3.37:g.48626075G>A			Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466665	0.26335	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.54866	0.55;0.55	5.38	5.38	0.77491	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000330	T	0.52435	0.1734	L	0.54323	1.7	0.45366	D	0.998355	P	0.49862	0.929	B	0.42798	0.398	T	0.52845	-0.8521	9	.	.	.	.	18.2888	0.90122	0.0:0.0:1.0:0.0	.	863	Q02388	CO7A1_HUMAN	S	863	ENSP00000332371:P863S;ENSP00000412569:P863S	.	P	-	1	0	COL7A1	48601079	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	4.006000	0.57083	2.686000	0.91538	0.655000	0.94253	CCG		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation	A	48626075	G	A	48626075	5	1	43	1	0	0	0	0	0	0	1	0	3704	1101	38	1	6647	1	COL7A1	3	48626075	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	163915	48626075	149396355	158	3335											
NDUFAF3	25915	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr3	49059935	49059935	+	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	ggaaaccgcgtgctcggcccCtgcgctctgctcccgcactc	4	7	11	19	5	1	0	0	0	1	0	4	1	2	1	4	2	4	4	4	2	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49059935C>A	ENST00000326925.6	+	2	1368	c.234C>A	c.(232-234)ccC>ccA	p.P78P	NDUFAF3_ENST00000395458.2_Silent_p.P21P|DALRD3_ENST00000440857.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000451378.2_Silent_p.P21P|NDUFAF3_ENST00000326912.4_Silent_p.P21P|DALRD3_ENST00000496568.1_5'Flank|MIR191_ENST00000384873.1_RNA	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	78					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCTCGGCCCCTGCGCTCTGC	0.632																																						.											0													23	23	23					3																	49059935		2202	4300	6502	SO:0001819	synonymous_variant	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.234C>A	3.37:g.49059935C>A				Silent	SNP	ENST00000326925.6	37	CCDS2784.1																																																																																				0.632	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		A	49059935	C	A	49059935	2	1	43	1	0	0	0	0	0	0	0	1	10276	668	24	5		5	NDUFAF3	3	49059935	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	433860	49059935	148962495	159	3336											
IMPDH2	25915	broad.mit.edu	37	chr3	49061970	49061970	+	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	cttccacctgggctgaggacGttctcttctcaaacttaagc	8	12	8	13	1	2	1	1	1	2	0	5	2	3	2	2	2	2	2	2	2	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49061970G>A	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Missense_Mutation_p.T494M|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCTGAGGACGTTCTCTTCTC	0.567																																						.											0													123	113	116					3																	49061970		2203	4300	6503	SO:0001628	intergenic_variant	3615				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49061970G>A				Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761076	0.89932	.	.	ENSG00000178035	ENST00000326739	D	0.82893	-1.66	5.68	5.68	0.88126	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95373	0.8466	10	0.87932	D	0	-12.7463	19.7926	0.96466	0.0:0.0:1.0:0.0	.	494	P12268	IMDH2_HUMAN	M	494	ENSP00000321584:T494M	ENSP00000321584:T494M	T	-	2	0	IMPDH2	49036974	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.367000	0.97148	2.670000	0.90874	0.655000	0.94253	ACG		0.567	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		A	49061970	G	A	49061970	1	1	43	0	1	0	0	0	0	0	0	0	7727	1145	40	1		1	IMPDH2	3	49061970	IGR	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2035	49061970	148960460	160	3337											
BSN	8927	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	49694040	49694040	+	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	gtggcagtggggccctcagcCggccagggttcgagaaagag	8	5	18	10	2	1	2	1	0	0	2	2	3	1	2	3	5	1	2	3	5	1	1	rs370022838		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49694040C>T	ENST00000296452.4	+	5	7165	c.7051C>T	c.(7051-7053)Cgg>Tgg	p.R2351W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2351					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)		GGCCCTCAGCCGGCCAGGGTT	0.647																																						.											0								C	TRP/ARG	0,4384		0,0,2192	14	15	15		7051	4.6	1	3		15	1,8569		0,1,4284	no	missense	BSN	NM_003458.3	101	0,1,6476	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	2351/3927	49694040	1,12953	2192	4285	6477	SO:0001583	missense	8927			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.7051C>T	3.37:g.49694040C>T	ENSP00000296452:p.Arg2351Trp		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958563	0.18507	0.0	1.17E-4	ENSG00000164061	ENST00000296452	T	0.18657	2.2	5.45	4.55	0.56014	.	0.745176	0.12546	N	0.459461	T	0.31796	0.0808	N	0.19112	0.55	0.37687	D	0.923715	D	0.89917	1.0	D	0.87578	0.998	T	0.23476	-1.0187	10	0.72032	D	0.01	-20.9049	11.971	0.53063	0.1737:0.8263:0.0:0.0	.	2351	Q9UPA5	BSN_HUMAN	W	2351	ENSP00000296452:R2351W	ENSP00000296452:R2351W	R	+	1	2	BSN	49669044	0.651000	0.27340	0.995000	0.50966	0.880000	0.50808	1.645000	0.37238	1.561000	0.49584	0.655000	0.94253	CGG		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49694040	C	T	49694040	3	4	43	1	0	0	0	0	1	0	0	0	1530	643	23	1	7069	1	BSN	3	49694040	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	632070	49694040	148328390	161	3338											
MST1	327	hgsc.bcm.edu;mdanderson.org	37	chr3	49723817	49723817	+	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	tcccaacgctggcaaggtacGcccgcagtggtggtattggc	7	8	14	12	3	0	0	0	0	0	0	1	0	1	0	2	5	2	5	2	5	4	3	rs146923247	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49723817G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_Silent_p.G240G|MST1_ENST00000449682.2_Silent_p.G315G|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_3'UTR|MST1_ENST00000494828.2_5'Flank	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)			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)		GGCAAGGTACGCCCGCAGTGG	0.652																																						.											0													35	33	33					3																	49723817		2202	4297	6499	SO:0001628	intergenic_variant	4485			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.49723817G>A			Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																				0.652	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49723817	G	A	49723817	1	1	43	0	1	0	0	0	0	0	0	0	9890	1074	38	1		1	MST1	3	49723817	IGR	SNP	G	TCGA-KN-8428-01A-11D-2310-10	29777	49723817	148298613	162	3339											
MST1R	4486	broad.mit.edu;mdanderson.org	37	chr3	49940431	49940431	+	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	aagctggcagccacggctgcGtccagtgaggatgccacgta	9	6	14	12	3	0	1	0	1	0	0	1	2	1	2	3	3	4	4	3	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49940431G>A	ENST00000296474.3	-	1	639	c.612C>T	c.(610-612)gaC>gaT	p.D204D	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.D204D|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	204	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)		CCACGGCTGCGTCCAGTGAGG	0.622																																						.											0													24	26	25					3																	49940431		2202	4299	6501	SO:0001819	synonymous_variant	4486			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.612C>T	3.37:g.49940431G>A			B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	CCDS2807.1																																																																																				0.622	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			A	49940431	G	A	49940431	2	1	43	1	0	0	0	0	0	0	0	1	9891	1136	40	1		1	MST1R	3	49940431	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	216614	49940431	148081999	163	3340											
RBM6	10180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	50005642	50005642	+	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	cagatttcagaggtagacacCgatctaggactgatcaggat	13	9	11	8	1	3	4	2	1	1	3	3	7	3	6	1	3	0	1	1	3	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:50005642C>T	ENST00000266022.4	+	3	1043	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RBM6_ENST00000443081.1_Nonsense_Mutation_p.R130*|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	262					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGTAGACACCGATCTAGGAC	0.448																																						.											0													83	85	84					3																	50005642		2203	4300	6503	SO:0001587	stop_gained	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.784C>T	3.37:g.50005642C>T	ENSP00000266022:p.Arg262*		O60549|O75524|Q86SS3	Nonsense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576649	0.65878	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	.	.	.	6.04	5.16	0.70880	.	0.237148	0.34853	N	0.003622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8677	8.0479	0.30559	0.3512:0.5757:0.0:0.0731	.	.	.	.	X	262;130	.	.	R	+	1	2	RBM6	49980646	0.920000	0.31207	0.998000	0.56505	0.992000	0.81027	2.172000	0.42463	1.543000	0.49345	0.561000	0.74099	CGA		0.448	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50005642	C	T	50005642	4	4	43	1	0	0	0	0	0	1	0	0	13144	644	23	1	790	1	RBM6	3	50005642	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	65211	50005642	148016788	164	3341											
IFRD2	7866	mdanderson.org	37	chr3	50329826	50329826	+	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	gacgacgggagccacacgccAcgcgcgccaccatcttcgcg	8	3	12	18	8	1	0	0	0	1	0	2	3	1	1	4	1	1	0	4	1	0	1	rs1076872	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:50329826A>G	ENST00000429673.2	-	1	71	c.72T>C	c.(70-72)cgT>cgC	p.R24R	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Silent_p.R126R			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	24						nucleus (GO:0005634)		p.R126R(1)		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)		GCCACACGCCACGCGCGCCAC	0.711													g|||	3866	0.771965	0.9871	0.8329	5008	,	,		12532	0.7817		0.6809	False		,,,				2504	0.5215					.											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						G		1241,85		585,71,7	6	13	11		72	-2.6	0.9	3	dbSNP_86	11	2184,926		782,620,153	no	coding-synonymous	IFRD2	NM_006764.4		1367,691,160	GG,GA,AA		29.7749,6.4103,22.7908		24/507	50329826	3425,1011	663	1555	2218	SO:0001819	synonymous_variant	7866			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.72T>C	3.37:g.50329826A>G			Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	CCDS46831.1																																																																																				0.711	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		G	50329826	A	G	50329826	2	3	43	1	0	0	0	0	0	0	0	1	7554	146	6	2		2	IFRD2	3	50329826	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	324184	50329826	147692604	165	3342											
DOCK3	1795	hgsc.bcm.edu;mdanderson.org	37	chr3	51315164	51315164	+	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	gtaagagggcagcggtgcccGcagtgcacagccgagatcac	10	4	15	12	3	1	2	1	0	0	2	1	3	1	2	2	2	4	4	2	2	1	1	rs370843265		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:51315164G>A	ENST00000266037.9	+	26	2825	c.2802G>A	c.(2800-2802)ccG>ccA	p.P934P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	934					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)		AGCGGTGCCCGCAGTGCACAG	0.552																																						.											0								G		0,4060		0,0,2030	35	37	36		2802	2.5	1	3		36	1,8351		0,1,4175	no	coding-synonymous	DOCK3	NM_004947.4		0,1,6205	AA,AG,GG		0.012,0.0,0.0081		934/2031	51315164	1,12411	2030	4176	6206	SO:0001819	synonymous_variant	1795			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.2802G>A	3.37:g.51315164G>A			O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51315164	G	A	51315164	2	1	43	1	0	0	0	0	0	0	0	1	4688	1074	38	1		1	DOCK3	3	51315164	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	985338	51315164	146707266	166	3343											
DNAH1	25981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	52420183	52420183	+	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	ctcccatccccaggtggataCggccatcgccgaggagaccc	8	5	11	17	3	0	1	0	0	0	1	3	4	2	2	6	4	1	0	6	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:52420183C>T	ENST00000420323.2	+	55	8894	c.8633C>T	c.(8632-8634)aCg>aTg	p.T2878M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2878	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGTGGATACGGCCATCGCC	0.552																																						.											0													50	54	53					3																	52420183		2050	4200	6250	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8633C>T	3.37:g.52420183C>T	ENSP00000401514:p.Thr2878Met		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846980	0.71603	.	.	ENSG00000114841	ENST00000420323	T	0.77358	-1.09	4.86	4.86	0.63082	.	0.000000	0.49916	D	0.000136	D	0.90854	0.7127	M	0.93062	3.375	0.50467	D	0.999872	D	0.89917	1.0	D	0.79784	0.993	D	0.92965	0.6392	10	0.72032	D	0.01	.	18.1681	0.89734	0.0:1.0:0.0:0.0	.	2878	C9JXH6	.	M	2878	ENSP00000401514:T2878M	ENSP00000401514:T2878M	T	+	2	0	DNAH1	52395223	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	7.039000	0.76544	2.518000	0.84900	0.563000	0.77884	ACG		0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52420183	C	T	52420183	3	4	43	1	0	0	0	0	1	0	0	0	4597	536	19	1	8847	1	DNAH1	3	52420183	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1105019	52420183	145602247	167	3344											
STAB1	23166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	52552013	52552013	+	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	ctcacctgccgtgcccgagtCggcctggtaatgatgcccaa	7	8	11	15	3	1	1	1	1	0	0	2	2	1	1	5	2	3	1	5	2	2	1	rs185967985		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:52552013C>T	ENST00000321725.6	+	45	4831	c.4755C>T	c.(4753-4755)gtC>gtT	p.V1585V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1585	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)		GTGCCCGAGTCGGCCTGGTAA	0.602													C|||	1	0.000199681	0	0	5008	,	,		19871	0		0.001	False		,,,				2504	0					.											0													55	57	56					3																	52552013		2203	4300	6503	SO:0001819	synonymous_variant	23166			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.4755C>T	3.37:g.52552013C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																				0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52552013	C	T	52552013	2	4	43	1	0	0	0	0	0	0	0	1	15236	871	31	1		1	STAB1	3	52552013	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	131830	52552013	145470417	168	3345											
CACNA1D	776	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	53757945	53757945	+	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	cttgggatgcagctgtttggCggcaagtttaattttgatga	8	15	13	5	1	0	2	0	2	0	0	0	3	0	3	0	3	2	5	0	3	2	6	rs562114124		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:53757945C>T	ENST00000350061.5	+	14	2530	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	CACNA1D_ENST00000288139.4_Silent_p.G693G|CACNA1D_ENST00000422281.2_Silent_p.G673G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	673					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)	AGCTGTTTGGCGGCAAGTTTA	0.453													C|||	1	0.000199681	0	0	5008	,	,		21775	0.001		0	False		,,,				2504	0					.											0													144	132	136					3																	53757945		2203	4300	6503	SO:0001819	synonymous_variant	776			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.2019C>T	3.37:g.53757945C>T			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																				0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53757945	C	T	53757945	2	4	43	1	0	0	0	0	0	0	0	1	2541	755	27	1		1	CACNA1D	3	53757945	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1205932	53757945	144264485	169	3346											
SLMAP	7871	broad.mit.edu	37	chr3	57843846	57843846	+	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	tgaagatagactcttatcacGgttagaagttatgggaaacc	14	11	10	6	1	2	4	1	1	1	3	2	5	2	5	1	2	1	2	1	2	7	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:57843846G>A	ENST00000428312.1	+	7	741	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	SLMAP_ENST00000295952.3_Missense_Mutation_p.R216Q|SLMAP_ENST00000383718.3_Missense_Mutation_p.R216Q|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.R216Q|SLMAP_ENST00000449503.2_Missense_Mutation_p.R216Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	216					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)		CTCTTATCACGGTTAGAAGTT	0.294																																						.											0													117	123	121					3																	57843846		2203	4297	6500	SO:0001583	missense	7871			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.647G>A	3.37:g.57843846G>A	ENSP00000398661:p.Arg216Gln		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.602794	0.96614	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.983;0.997;0.997;0.991	T	0.70299	-0.4910	10	0.44086	T	0.13	-8.5479	20.6721	0.99693	0.0:0.0:1.0:0.0	.	216;216;216;216	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	Q	216	ENSP00000295951:R216Q;ENSP00000295952:R216Q;ENSP00000373224:R216Q;ENSP00000398661:R216Q;ENSP00000412945:R216Q	ENSP00000295951:R216Q	R	+	2	0	SLMAP	57818886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.781000	0.91805	2.894000	0.99253	0.591000	0.81541	CGG		0.294	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		A	57843846	G	A	57843846	3	1	43	1	0	0	0	0	1	0	0	0	14749	1116	39	1	673	1	SLMAP	3	57843846	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4085901	57843846	140178584	170	3347											
ATXN7	6314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	63981293	63981293	+	Missense_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	gctatctggcagcagccaccGtctctacatccccagtcctg	7	9	8	17	1	2	0	0	0	2	0	5	0	4	0	5	1	3	3	5	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:63981293G>A	ENST00000295900.6	+	12	2345	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I	ATXN7_ENST00000487717.1_Missense_Mutation_p.V599I|ATXN7_ENST00000398590.3_Missense_Mutation_p.V599I|ATXN7_ENST00000484332.1_Missense_Mutation_p.V454I|ATXN7_ENST00000538065.1_Missense_Mutation_p.V599I	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	599					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGCAGCCACCGTCTCTACATC	0.537																																						.											0													125	130	128					3																	63981293		2200	4299	6499	SO:0001583	missense	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1795G>A	3.37:g.63981293G>A	ENSP00000295900:p.Val599Ile		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	1.445	-0.566474	0.03910	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.14640	2.5;2.51;2.51;2.5;2.49	5.33	2.56	0.30785	.	0.430246	0.24381	N	0.039018	T	0.06142	0.0159	N	0.22421	0.69	0.09310	N	1	B;B;P	0.39737	0.396;0.017;0.685	B;B;B	0.28385	0.038;0.003;0.089	T	0.35798	-0.9774	10	0.07325	T	0.83	-0.3532	10.9505	0.47325	0.2054:0.0:0.7946:0.0	.	454;599;599	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	I	599;599;599;599;454	ENSP00000381590:V599I;ENSP00000295900:V599I;ENSP00000420234:V599I;ENSP00000439585:V599I;ENSP00000428277:V454I	ENSP00000295900:V599I	V	+	1	0	ATXN7	63956333	0.054000	0.20591	0.008000	0.14137	0.002000	0.02628	0.283000	0.18846	0.253000	0.21552	-0.156000	0.13503	GTC		0.537	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		A	63981293	G	A	63981293	3	1	43	1	0	0	0	0	1	0	0	0	1215	1145	40	1	1901	1	ATXN7	3	63981293	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6137447	63981293	134041137	171	3348											
LMOD3	56203	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	69168210	69168210	+	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	ggcttgggtcctcccaacagCtcccacatcccagggggcag	7	6	12	16	0	0	0	0	0	0	0	4	0	4	0	4	4	2	3	4	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:69168210C>A	ENST00000420581.2	-	2	1475	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	LMOD3_ENST00000475434.1_Missense_Mutation_p.E432D|LMOD3_ENST00000489031.1_Missense_Mutation_p.E432D	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	432						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTCCCAACAGCTCCCACATCC	0.542																																						.											0													73	77	76					3																	69168210		1947	4126	6073	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1296G>T	3.37:g.69168210C>A	ENSP00000414670:p.Glu432Asp		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320980	0.41096	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.13778	2.56;2.56;2.56	5.84	5.84	0.93424	.	0.090855	0.85682	D	0.000000	T	0.15478	0.0373	M	0.67953	2.075	0.48135	D	0.999595	P	0.45348	0.856	B	0.38842	0.283	T	0.03922	-1.0992	10	0.20046	T	0.44	-33.5411	12.8236	0.57707	0.0:0.8839:0.0:0.1161	.	432	Q0VAK6	LMOD3_HUMAN	D	432	ENSP00000414670:E432D;ENSP00000417210:E432D;ENSP00000418645:E432D	ENSP00000414670:E432D	E	-	3	2	LMOD3	69250900	1.000000	0.71417	0.984000	0.44739	0.879000	0.50718	1.401000	0.34589	2.779000	0.95612	0.591000	0.81541	GAG		0.542	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		A	69168210	C	A	69168210	3	1	43	1	0	0	0	0	1	0	0	0	8858	796	28	5	394	5	LMOD3	3	69168210	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5186917	69168210	128854220	172	3349											
GPR27	2850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	71804265	71804265	+	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	ttcagggcccagttcccctgCtgccagagcccccggaccac	6	6	10	19	1	1	1	1	0	0	1	2	2	2	2	7	2	3	2	7	2	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:71804265C>T	ENST00000304411.2	+	1	1065	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	355					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		AGTTCCCCTGCTGCCAGAGCC	0.647																																						.											0													14	14	14					3																	71804265		2160	4226	6386	SO:0001819	synonymous_variant	2850			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1065C>T	3.37:g.71804265C>T				Silent	SNP	ENST00000304411.2	37	CCDS2915.1																																																																																				0.647	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		T	71804265	C	T	71804265	2	4	43	1	0	0	0	0	0	0	0	1	6685	805	28	4		4	GPR27	3	71804265	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2636055	71804265	126218165	173	3350											
PPP4R2	151987	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	73096446	73096446	+	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	gtcctcccaaccctaatgtcGaatatattccctttgatgaa	11	13	5	12	1	0	2	0	2	0	0	4	3	3	2	4	0	1	0	4	0	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:73096446G>A	ENST00000356692.5	+	3	479	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Missense_Mutation_p.E20K			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	76					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CCCTAATGTCGAATATATTCC	0.348																																						.											0													51	56	54					3																	73096446		2203	4299	6502	SO:0001583	missense	151987			AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.226G>A	3.37:g.73096446G>A	ENSP00000349124:p.Glu76Lys		A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255741	0.80135	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000295862;ENST00000476505	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72308	-0.4332	10	0.72032	D	0.01	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	76	Q9NY27	PP4R2_HUMAN	K	76;76;20;38	ENSP00000349124:E76K;ENSP00000418750:E76K;ENSP00000295862:E20K;ENSP00000420098:E38K	ENSP00000295862:E20K	E	+	1	0	PPP4R2	73179136	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.700000	0.98707	2.576000	0.86940	0.557000	0.71058	GAA		0.348	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		A	73096446	G	A	73096446	3	1	43	1	0	0	0	0	1	0	0	0	12404	1059	37	1	236	1	PPP4R2	3	73096446	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1292181	73096446	124925984	174	3351											
ROBO1	6091	hgsc.bcm.edu;ucsc.edu	37	chr3	78666912	78666912	+	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	gaactaacactggagcgtccGctggaaatgttgtcctcctc	9	10	10	12	2	0	0	0	0	0	0	4	3	3	2	3	2	3	2	3	2	3	2	rs536505138		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:78666912G>A	ENST00000464233.1	-	27	4268	c.4155C>T	c.(4153-4155)agC>agT	p.S1385S	ROBO1_ENST00000436010.2_Silent_p.S1346S|ROBO1_ENST00000495273.1_Silent_p.S1340S|ROBO1_ENST00000467549.1_Silent_p.S1285S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1385					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)	p.S1362S(1)|p.S1340S(1)|p.S1385S(1)|p.S1389S(1)		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)		TGGAGCGTCCGCTGGAAATGT	0.577																																						.											4	Substitution - coding silent(4)	lung(4)											53	60	57					3																	78666912		1967	4136	6103	SO:0001819	synonymous_variant	6091			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.4155C>T	3.37:g.78666912G>A			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																				0.577	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78666912	G	A	78666912	2	1	43	1	0	0	0	0	0	0	0	1	13513	1078	38	1		1	ROBO1	3	78666912	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5570466	78666912	119355518	175	3352											
HTR1F	3355	broad.mit.edu;bcgsc.ca	37	chr3	88040986	88040986	+	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	aagcattccaaaagcttgtgCgatgtcgatgttagttttaa	12	14	9	6	2	0	0	0	0	0	0	2	2	1	0	1	0	3	4	1	0	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:88040986C>T	ENST00000319595.4	+	1	1141	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	363					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)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAAGCTTGTGCGATGTCGATG	0.338																																						.											0													44	47	46					3																	88040986		2200	4299	6499	SO:0001587	stop_gained	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.1087C>T	3.37:g.88040986C>T	ENSP00000322924:p.Arg363*			Nonsense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115192	0.94339	.	.	ENSG00000179097	ENST00000319595	.	.	.	5.54	4.59	0.56863	.	0.271359	0.32518	N	0.005996	.	.	.	.	.	.	0.31805	N	0.627955	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.5546	0.56246	0.1989:0.801:0.0:0.0	.	.	.	.	X	363	.	ENSP00000322924:R363X	R	+	1	2	HTR1F	88123676	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	2.287000	0.43505	2.607000	0.88179	0.557000	0.71058	CGA		0.338	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		T	88040986	C	T	88040986	4	4	43	1	0	0	0	0	0	1	0	0	7440	760	27	1	1089	1	HTR1F	3	88040986	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9374074	88040986	109981444	176	3353											
CGGBP1	8545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	88105046	88105046	+	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	agctcacctccaaactcagtGactcgatccaggggagtcac	11	7	9	14	1	3	1	3	1	0	0	6	3	5	2	3	2	2	1	3	2	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:88105046G>A	ENST00000398392.2	-	1	1413	c.81C>T	c.(79-81)gtC>gtT	p.V27V	CGGBP1_ENST00000309534.6_Silent_p.V27V|CGGBP1_ENST00000482016.1_Silent_p.V27V|CGGBP1_ENST00000462901.1_Silent_p.V27V|CGGBP1_ENST00000474441.1_5'Flank			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	27					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	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)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CAAACTCAGTGACTCGATCCA	0.453																																						.											0													103	103	103					3																	88105046		1990	4178	6168	SO:0001819	synonymous_variant	8545			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.81C>T	3.37:g.88105046G>A			D3DU38|O15183	Silent	SNP	ENST00000398392.2	37	CCDS43111.1																																																																																				0.453	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		A	88105046	G	A	88105046	2	1	43	1	0	0	0	0	0	0	0	1	3302	1277	45	4		4	CGGBP1	3	88105046	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	64060	88105046	109917384	177	3354											
EPHA3	2042	broad.mit.edu;bcgsc.ca	37	chr3	89498501	89498501	+	Missense_Mutation	SNP	T	T	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	tgtcttatggagagagaccaTactgggagatgtccaatcag	12	10	12	7	0	2	3	1	0	1	3	3	6	3	3	2	2	1	0	2	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:89498501T>C	ENST00000336596.2	+	14	2698	c.2473T>C	c.(2473-2475)Tac>Cac	p.Y825H	EPHA3_ENST00000494014.1_Missense_Mutation_p.Y825H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	825	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)		AGAGAGACCATACTGGGAGAT	0.438										TSP Lung(6;0.00050)																												.											0													250	228	235					3																	89498501		2203	4300	6503	SO:0001583	missense	2042			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.2473T>C	3.37:g.89498501T>C	ENSP00000337451:p.Tyr825His		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463042	0.84425	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.64438	-0.1;-0.1	5.34	5.34	0.76211	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	0.82604	0.5073	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86236	0.1640	9	.	.	.	.	15.3454	0.74334	0.0:0.0:0.0:1.0	.	825	P29320	EPHA3_HUMAN	H	825	ENSP00000337451:Y825H;ENSP00000419190:Y825H	.	Y	+	1	0	EPHA3	89581191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.030000	0.59900	0.533000	0.62120	TAC		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		C	89498501	T	C	89498501	3	2	43	1	0	0	0	0	1	0	0	0	5168	1406	49	4	2553	4	EPHA3	3	89498501	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1393455	89498501	108523929	178	3355											
CRYBG3	131544	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	97607247	97607247	+	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	agttctggaggaagaccatgGgctctttgagatttctacag	10	12	12	7	0	3	2	0	1	3	2	3	5	3	4	1	3	1	2	1	3	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:97607247G>A	ENST00000182096.4	+	6	1572	c.1508G>A	c.(1507-1509)gGg>gAg	p.G503E		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2451							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GAAGACCATGGGCTCTTTGAG	0.343																																						.											0													64	59	60					3																	97607247		1818	4070	5888	SO:0001583	missense	131544					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.1508G>A	3.37:g.97607247G>A	ENSP00000182096:p.Gly503Glu		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	G	11.15	1.555254	0.27739	.	.	ENSG00000080200	ENST00000182096	T	0.74421	-0.84	5.54	3.74	0.42951	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.404354	0.23782	N	0.044602	T	0.51058	0.1652	N	0.10874	0.06	0.54753	D	0.999988	B	0.19331	0.035	B	0.20767	0.031	T	0.42849	-0.9427	10	0.30854	T	0.27	.	5.8824	0.18862	0.1634:0.0:0.6808:0.1558	.	503	Q68DQ2	CRBG3_HUMAN	E	503	ENSP00000182096:G503E	ENSP00000182096:G503E	G	+	2	0	CRYBG3	99089937	0.487000	0.25988	0.998000	0.56505	0.987000	0.75469	1.347000	0.33975	1.345000	0.45676	0.655000	0.94253	GGG		0.343	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		A	97607247	G	A	97607247	3	1	43	1	0	0	0	0	1	0	0	0	3913	1232	43	3	1530	3	CRYBG3	3	97607247	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8108746	97607247	100415183	179	3356											
PARP14	54625	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	122420029	122420029	+	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	ggaaagctgccctaccaccaCgtgatccatgcagtggggcc	9	6	12	14	1	0	1	0	1	0	0	1	2	1	2	5	3	4	2	5	3	2	1	rs375197249		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:122420029C>T	ENST00000474629.2	+	6	2894	c.2628C>T	c.(2626-2628)caC>caT	p.H876H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	876	Macro 1. {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)		CCTACCACCACGTGATCCATG	0.582																																						.											0								C		1,4009		0,1,2004	29	30	30		2628	-12.1	0	3		30	0,8314		0,0,4157	no	coding-synonymous	PARP14	NM_017554.2		0,1,6161	TT,TC,CC		0.0,0.0249,0.0081		876/1802	122420029	1,12323	2005	4157	6162	SO:0001819	synonymous_variant	54625			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.2628C>T	3.37:g.122420029C>T			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																				0.582	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		T	122420029	C	T	122420029	2	4	43	1	0	0	0	0	0	0	0	1	11458	535	19	1		1	PARP14	3	122420029	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	24812782	122420029	75602401	180	3357											
CCDC14	64770	broad.mit.edu	37	chr3	123675252	123675252	+	Missense_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	gccagaatctgcattaaaacGtggtatttttcttaaatagg	13	14	8	6	1	2	1	0	0	2	1	2	1	2	1	1	2	2	2	1	2	7	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123675252G>A	ENST00000488653.2	-	3	343	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	CCDC14_ENST00000433542.2_Missense_Mutation_p.R85C|CCDC14_ENST00000485727.1_De_novo_Start_OutOfFrame|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_De_novo_Start_OutOfFrame			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	85					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)		GCATTAAAACGTGGTATTTTT	0.284																																						.											0													65	62	63					3																	123675252		692	1585	2277	SO:0001583	missense	64770			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.253C>T	3.37:g.123675252G>A	ENSP00000420180:p.Arg85Cys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.	.	.	.	.	.	.	.	.	.	G	3.595	-0.082774	0.07141	.	.	ENSG00000175455	ENST00000488653;ENST00000433542;ENST00000409697	T;T;T	0.50277	0.77;0.75;0.77	5.43	4.55	0.56014	.	.	.	.	.	T	0.32763	0.0840	N	0.21448	0.665	0.24462	N	0.99443	B;B	0.28082	0.2;0.2	B;B	0.21917	0.037;0.037	T	0.17715	-1.0360	9	0.44086	T	0.13	.	9.8274	0.40921	0.0914:0.0:0.9086:0.0	.	85;85	Q49A88;Q49A88-6	CCD14_HUMAN;.	C	85;85;66	ENSP00000420180:R85C;ENSP00000395706:R85C;ENSP00000386866:R66C	ENSP00000386866:R66C	R	-	1	0	CCDC14	125157942	0.953000	0.32496	0.096000	0.21009	0.182000	0.23217	3.213000	0.51153	1.527000	0.49086	0.655000	0.94253	CGT		0.284	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		A	123675252	G	A	123675252	3	1	43	1	0	0	0	0	1	0	0	0	2773	1145	40	1	2525	1	CCDC14	3	123675252	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1255223	123675252	74347178	181	3358											
ROPN1	54763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	123689003	123689003	+	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	tgctgaacgggatccggggcGacccaccattatggtcacat	9	8	12	12	3	1	1	1	1	0	0	2	3	2	2	3	4	2	1	3	4	2	1	rs140868038		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123689003G>A	ENST00000184183.4	-	6	798	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ROPN1_ENST00000405845.3_Missense_Mutation_p.S153L	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	153						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S153L(1)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GATCCGGGGCGACCCACCATT	0.433																																						.											1	Substitution - Missense(1)	skin(1)											144	128	133					3																	123689003		2203	4300	6503	SO:0001583	missense	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.458C>T	3.37:g.123689003G>A	ENSP00000184183:p.Ser153Leu		D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	G	7.115	0.576882	0.13686	.	.	ENSG00000065371	ENST00000184183;ENST00000405845	T;T	0.25749	1.78;1.78	4.84	3.06	0.35304	.	0.263021	0.28515	N	0.015079	T	0.18800	0.0451	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03641	-1.1017	10	0.44086	T	0.13	0.0093	11.6213	0.51119	0.0981:0.0:0.9019:0.0	.	153	Q9HAT0	ROP1A_HUMAN	L	153	ENSP00000184183:S153L;ENSP00000385919:S153L	ENSP00000184183:S153L	S	-	2	0	ROPN1	125171693	1.000000	0.71417	0.463000	0.27130	0.000000	0.00434	2.704000	0.47118	0.600000	0.29862	-0.921000	0.02739	TCG		0.433	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		A	123689003	G	A	123689003	3	1	43	1	0	0	0	0	1	0	0	0	13523	1059	37	1	188	1	ROPN1	3	123689003	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13751	123689003	74333427	182	3359											
KALRN	8997	broad.mit.edu;bcgsc.ca	37	chr3	123946899	123946899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatcctaaaggaaaaggtgGccttcgtgtctggtgagtat	10	12	12	7	1	1	1	0	1	1	0	3	2	2	2	2	4	0	1	2	4	6	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123946899G>T	ENST00000240874.3	+	2	287	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	KALRN_ENST00000460856.1_Missense_Mutation_p.A44S|KALRN_ENST00000360013.3_Missense_Mutation_p.A44S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	44	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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						GGAAAAGGTGGCCTTCGTGTC	0.448																																						.											0													258	247	250					3																	123946899		2203	4300	6503	SO:0001583	missense	8997			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.130G>T	3.37:g.123946899G>T	ENSP00000240874:p.Ala44Ser		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.057071|5.057071	0.93846|0.93846	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000448253;ENST00000354186	D;D;D|.	0.84298|.	-1.83;-1.83;-1.83|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Cellular retinaldehyde-binding/triple function, C-terminal (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.82416|0.82416	0.5032|0.5032	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	P;D;P|.	0.69078|.	0.946;0.997;0.933|.	P;D;P|.	0.80764|.	0.719;0.994;0.597|.	D|D	0.84731|0.84731	0.0745|0.0745	10|5	0.87932|.	D|.	0|.	.|.	18.0511|18.0511	0.89349|0.89349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;44;44|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	S|C	44|71;21	ENSP00000418611:A44S;ENSP00000240874:A44S;ENSP00000353109:A44S|.	ENSP00000240874:A44S|.	A|W	+|+	1|3	0|0	KALRN|KALRN	125429589|125429589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.262000|8.262000	0.89862|0.89862	2.485000|2.485000	0.83878|0.83878	0.650000|0.650000	0.86243|0.86243	GCC|TGG		0.448	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	123946899	G	T	123946899	3	4	43	1	0	0	0	0	1	0	0	0	7975	1203	42	5	136	5	KALRN	3	123946899	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	257896	123946899	74075531	183	3360											
ITGB5	3693	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	124515406	124515406	+	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	ccggcacaggttctggtacaCgctctggttctccccatcct	5	11	9	16	2	3	0	0	0	3	0	5	0	4	0	4	4	1	5	4	4	1	3	rs576577571		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:124515406C>T	ENST00000296181.4	-	10	1818	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	508	Cysteine-rich tandem repeats.				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)		TTCTGGTACACGCTCTGGTTC	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		17297	0		0	False		,,,				2504	0					.											0													48	47	47					3																	124515406		2203	4300	6503	SO:0001583	missense	3693			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.1522G>A	3.37:g.124515406C>T	ENSP00000296181:p.Val508Met		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330459	0.24167	.	.	ENSG00000082781	ENST00000296181	D	0.90732	-2.72	5.26	3.38	0.38709	.	1.165470	0.05915	N	0.632346	T	0.81927	0.4926	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.69285	-0.5185	10	0.46703	T	0.11	.	1.548	0.02569	0.2704:0.3406:0.2537:0.1353	.	508	P18084	ITB5_HUMAN	M	508	ENSP00000296181:V508M	ENSP00000296181:V508M	V	-	1	0	ITGB5	125998096	0.000000	0.05858	0.015000	0.15790	0.824000	0.46624	-0.244000	0.08903	1.426000	0.47256	0.563000	0.77884	GTG		0.657	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		T	124515406	C	T	124515406	3	4	43	1	0	0	0	0	1	0	0	0	7898	536	19	1	901	1	ITGB5	3	124515406	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	568507	124515406	73507024	184	3361											
PLXNA1	5361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	126723819	126723819	+	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	tgcagctgactgtgcagcccCgcaatgtgtctgtcaccatg	7	10	11	13	1	2	1	1	1	1	0	2	1	2	1	3	0	4	4	3	0	1	0	rs117043507	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:126723819C>T	ENST00000393409.2	+	5	1711	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R548C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	571					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)		TGTGCAGCCCCGCAATGTGTC	0.657													C|||	2	0.000399361	0	0	5008	,	,		17680	0.001		0.001	False		,,,				2504	0					.											0													47	44	45					3																	126723819		2203	4300	6503	SO:0001583	missense	5361			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.1711C>T	3.37:g.126723819C>T	ENSP00000377061:p.Arg571Cys			Missense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.096	0.386016	0.11524	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10005	2.92;2.92	3.4	2.43	0.29744	.	0.347098	0.20648	N	0.088262	T	0.09555	0.0235	L	0.44542	1.39	0.20403	N	0.9999	B	0.12013	0.005	B	0.09377	0.004	T	0.18272	-1.0342	10	0.72032	D	0.01	.	8.5712	0.33569	0.4609:0.5391:0.0:0.0	.	571	Q9UIW2	PLXA1_HUMAN	C	571;548	ENSP00000377061:R571C;ENSP00000251772:R548C	ENSP00000251772:R548C	R	+	1	0	PLXNA1	128206509	0.377000	0.25106	0.416000	0.26546	0.046000	0.14306	2.447000	0.44917	1.927000	0.55829	0.313000	0.20887	CGC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126723819	C	T	126723819	3	4	43	1	0	0	0	0	1	0	0	0	12119	652	23	1	1729	1	PLXNA1	3	126723819	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2208413	126723819	71298611	185	3362											
MCM2	4171	broad.mit.edu;bcgsc.ca	37	chr3	127339608	127339608	+	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	ccgcatggcggaggcccacgCgcgcatccatctgcgggact	6	5	14	16	6	1	0	0	0	1	0	2	2	2	2	3	4	1	2	3	4	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:127339608C>T	ENST00000265056.7	+	14	2577	c.2333C>T	c.(2332-2334)gCg>gTg	p.A778V	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	778					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						GAGGCCCACGCGCGCATCCAT	0.582																																						.											0													119	110	113					3																	127339608		2203	4300	6503	SO:0001583	missense	4171			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.2333C>T	3.37:g.127339608C>T	ENSP00000265056:p.Ala778Val		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.49|18.49	3.636410|3.636410	0.67130|0.67130	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.21031|.	2.03|.	5.7|5.7	4.82|4.82	0.62117|0.62117	.|.	0.047367|.	0.85682|.	D|.	0.000000|.	D|D	0.91157|0.91157	0.7215|0.7215	H|H	0.99143|0.99143	4.445|4.445	0.80722|0.80722	D|D	1|1	B;B;P|.	0.50443|.	0.214;0.287;0.935|.	B;B;P|.	0.48921|.	0.053;0.172;0.595|.	D|D	0.95135|0.95135	0.8258|0.8258	10|5	0.87932|.	D|.	0|.	-29.4073|-29.4073	16.8658|16.8658	0.86029|0.86029	0.0:0.8717:0.1283:0.0|0.0:0.8717:0.1283:0.0	.|.	828;648;778|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	V|C	778;682;828|710	ENSP00000265056:A778V|.	ENSP00000265056:A778V|.	A|R	+|+	2|1	0|0	MCM2|MCM2	128822298|128822298	1.000000|1.000000	0.71417|0.71417	0.823000|0.823000	0.32752|0.32752	0.005000|0.005000	0.04900|0.04900	7.344000|7.344000	0.79328|0.79328	1.408000|1.408000	0.46895|0.46895	-0.171000|-0.171000	0.13296|0.13296	GCG|CGC		0.582	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127339608	C	T	127339608	3	4	43	1	0	0	0	0	1	0	0	0	9386	768	27	1	2387	1	MCM2	3	127339608	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	615789	127339608	70682822	186	3363											
IFT122	55764	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	129233374	129233374	+	Missense_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	tgggtaccctgaccatccgcGccaagcccttccacgacagt	8	7	9	17	3	0	1	0	1	0	0	2	2	2	1	6	1	2	1	6	1	2	2	rs149245630		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:129233374G>A	ENST00000348417.2	+	25	3207	c.3130G>A	c.(3130-3132)Gcc>Acc	p.A1044T	IFT122_ENST00000507564.1_Missense_Mutation_p.A1037T|IFT122_ENST00000440957.2_Missense_Mutation_p.A835T|IFT122_ENST00000347300.2_Missense_Mutation_p.A985T|IFT122_ENST00000504021.1_Missense_Mutation_p.A921T|IFT122_ENST00000349441.2_Missense_Mutation_p.A934T|IFT122_ENST00000431818.2_Missense_Mutation_p.A894T|IFT122_ENST00000296266.3_Missense_Mutation_p.A1095T	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1044					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						GACCATCCGCGCCAAGCCCTT	0.612																																						.											0								G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	108	90	96		2953,3283,3130,2800	4	1	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	IFT122	NM_018262.2,NM_052985.2,NM_052989.1,NM_052990.1	58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	985/1183,1095/1293,1044/1242,934/1132	129233374	1,13005	2203	4300	6503	SO:0001583	missense	55764			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.3130G>A	3.37:g.129233374G>A	ENSP00000324005:p.Ala1044Thr		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	15.88	2.964504	0.53507	0.0	1.16E-4	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.65916	0.44;-0.18;-0.07;0.01;0.62;0.59;0.44;0.01	5.18	4.02	0.46733	.	0.113969	0.64402	D	0.000008	T	0.51210	0.1661	L	0.32530	0.975	0.35742	D	0.818777	B;B;B;B;P;P;B;B;B;B	0.34780	0.207;0.236;0.205;0.441;0.468;0.468;0.195;0.427;0.066;0.308	B;B;B;B;B;B;B;B;B;B	0.34991	0.07;0.079;0.038;0.066;0.065;0.053;0.065;0.193;0.015;0.057	T	0.61753	-0.6998	10	0.72032	D	0.01	-17.1118	12.0472	0.53487	0.0:0.0:0.1513:0.8487	.	835;370;1037;432;921;886;934;985;1044;1095	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	T	985;1095;1037;894;921;934;1044;886;835	ENSP00000323973:A985T;ENSP00000296266:A1095T;ENSP00000425536:A1037T;ENSP00000410946:A894T;ENSP00000422179:A921T;ENSP00000324165:A934T;ENSP00000324005:A1044T;ENSP00000401569:A835T	ENSP00000296266:A1095T	A	+	1	0	IFT122	130716064	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	4.037000	0.57311	0.822000	0.34565	-0.397000	0.06425	GCC		0.612	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		A	129233374	G	A	129233374	3	1	43	1	0	0	0	0	1	0	0	0	7555	1087	38	1	3388	1	IFT122	3	129233374	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1893766	129233374	68789056	187	3364											
DNAJC13	23317	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	132172979	132172979	+	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	aatttataaaagggcaagtaCggaaatattcttcaacagag	18	10	8	5	1	2	1	1	0	1	1	2	2	2	2	0	2	2	2	0	2	9	7	rs147315244	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:132172979C>T	ENST00000260818.6	+	9	1158	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	304					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						AGGGCAAGTACGGAAATATTC	0.318													C|||	2	0.000399361	0	0.0029	5008	,	,		12225	0		0	False		,,,				2504	0					.											0								C	TRP/ARG	0,4402		0,0,2201	75	88	83		910	4.7	1	3	dbSNP_134	83	1,8565	1.2+/-3.3	0,1,4282	yes	missense	DNAJC13	NM_015268.3	101	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	304/2244	132172979	1,12967	2201	4283	6484	SO:0001583	missense	23317			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.910C>T	3.37:g.132172979C>T	ENSP00000260818:p.Arg304Trp		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.2	4.116152	0.77323	0.0	1.17E-4	ENSG00000138246	ENST00000260818	T	0.47177	0.85	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;P	0.71184	0.972;0.813	T	0.75258	-0.3381	10	0.87932	D	0	.	13.9305	0.63991	0.161:0.839:0.0:0.0	.	304;304	A7E2Y5;O75165	.;DJC13_HUMAN	W	304	ENSP00000260818:R304W	ENSP00000260818:R304W	R	+	1	2	DNAJC13	133655669	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.165000	0.42396	1.315000	0.45114	0.650000	0.86243	CGG		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		T	132172979	C	T	132172979	3	4	43	1	0	0	0	0	1	0	0	0	4632	527	19	1	940	1	DNAJC13	3	132172979	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2939605	132172979	65849451	188	3365											
DNAJC13	23317	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	132221145	132221145	+	Missense_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	tctctcagagtattccccgcGtagctgctcttggggtagaa	7	12	11	11	2	3	2	1	0	2	2	5	2	4	2	2	2	2	5	2	2	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:132221145G>A	ENST00000260818.6	+	40	4797	c.4549G>A	c.(4549-4551)Gta>Ata	p.V1517I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1517					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						TATTCCCCGCGTAGCTGCTCT	0.403																																						.											0													131	126	127					3																	132221145		2203	4300	6503	SO:0001583	missense	23317			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.4549G>A	3.37:g.132221145G>A	ENSP00000260818:p.Val1517Ile		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856146	0.32791	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.56444	0.46	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.141484	0.49305	D	0.000159	T	0.26231	0.0640	N	0.01576	-0.805	0.33835	D	0.630672	B	0.24882	0.113	B	0.09377	0.004	T	0.33803	-0.9854	10	0.36615	T	0.2	.	15.0241	0.71653	0.0:0.1418:0.8581:0.0	.	1517	O75165	DJC13_HUMAN	I	1517;164	ENSP00000260818:V1517I	ENSP00000260818:V1517I	V	+	1	0	DNAJC13	133703835	1.000000	0.71417	0.748000	0.31131	0.341000	0.28922	4.145000	0.58065	2.585000	0.87301	0.650000	0.86243	GTA		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		A	132221145	G	A	132221145	3	1	43	1	0	0	0	0	1	0	0	0	4632	1145	40	1	4703	1	DNAJC13	3	132221145	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	48166	132221145	65801285	189	3366											
RAB6B	51560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	133553468	133553468	+	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	tccattccgggtagagccgaCgccacacgtcgaaaaagctg	11	6	11	13	5	0	1	0	0	0	1	3	3	2	1	4	1	2	2	4	1	3	2	rs370450177		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:133553468C>T	ENST00000285208.4	-	7	862	c.513G>A	c.(511-513)gcG>gcA	p.A171A	RAB6B_ENST00000486858.1_Silent_p.A158A|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.A171A	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	171					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GTAGAGCCGACGCCACACGTC	0.502																																						.											0								C		0,4406		0,0,2203	116	119	118		513	-10.3	0	3		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RAB6B	NM_016577.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		171/209	133553468	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51560			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"RAB, member RAS oncogene"	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.513G>A	3.37:g.133553468C>T			B2R5Z9|B7Z337|D3DND3|Q92929	Silent	SNP	ENST00000285208.4	37	CCDS3082.1																																																																																				0.502	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			T	133553468	C	T	133553468	2	4	43	1	0	0	0	0	0	0	0	1	12952	523	19	1		1	RAB6B	3	133553468	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1332323	133553468	64468962	190	3367											
ATR	545	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	142272665	142272665	+	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	gttaaaaacaaaaattatcaAcctcctttataaatccatct	18	13	1	9	0	2	0	1	0	1	0	4	0	4	0	3	0	2	1	3	0	10	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:142272665A>G	ENST00000350721.4	-	11	2654		c.e11+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAAATTATCAACCTCCTTTAT	0.308								Other conserved DNA damage response genes																														.											0													68	68	68					3																	142272665		2202	4299	6501	SO:0001630	splice_region_variant	545			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.2532+1T>C	3.37:g.142272665A>G			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199697	0.79015	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3122	0.74042	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143755355	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.323000	0.72891	2.027000	0.59764	0.477000	0.44152	.		0.308	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Intron	G	142272665	A	G	142272665	5	3	43	1	0	0	0	0	0	0	1	0	1204	57	2	2	5548	2	ATR	3	142272665	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	8719197	142272665	55749765	191	3368											
C3orf58	205428	broad.mit.edu	37	chr3	143691481	143691481	+	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	acggcgagccccgcgagggcGgccgccgccgagtggtgctc	4	3	18	16	8	0	0	0	0	0	0	1	3	0	0	5	4	2	1	5	4	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:143691481G>C	ENST00000315691.3	+	1	842	c.307G>C	c.(307-309)Ggc>Cgc	p.G103R	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	103					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						CCGCGAGGGCGGCCGCCGCCG	0.716																																						.											0													15	19	18					3																	143691481		1964	3965	5929	SO:0001583	missense	205428			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.307G>C	3.37:g.143691481G>C	ENSP00000320081:p.Gly103Arg		B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592068	0.46214	.	.	ENSG00000181744	ENST00000315691	T	0.33654	1.4	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	N	0.19112	0.55	0.80722	D	1	B	0.30914	0.3	B	0.29267	0.1	T	0.08785	-1.0705	10	0.32370	T	0.25	.	2.6503	0.04996	0.2473:0.0:0.5175:0.2351	.	103	Q8NDZ4	CC058_HUMAN	R	103	ENSP00000320081:G103R	ENSP00000320081:G103R	G	+	1	0	C3orf58	145174171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.147000	0.64851	1.981000	0.57761	0.561000	0.74099	GGC		0.716	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		C	143691481	G	C	143691481	3	2	43	1	0	0	0	0	1	0	0	0	2236	1116	39	5	309	5	C3orf58	3	143691481	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1418816	143691481	54330949	192	3369											
TM4SF1	4071	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	149093475	149093475	+	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	aggaggacctaccgcacatcGtttgccacagttttcatggc	9	10	10	12	2	1	0	1	0	0	0	2	2	1	2	3	3	2	3	3	3	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:149093475G>A	ENST00000305366.3	-	2	576	c.259C>T	c.(259-261)Cga>Tga	p.R87*	TM4SF1_ENST00000472441.1_De_novo_Start_OutOfFrame|TM4SF1-AS1_ENST00000496491.1_RNA|TM4SF1-AS1_ENST00000484046.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	87						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACCGCACATCGTTTGCCACAG	0.512																																						.											0													193	167	176					3																	149093475		2203	4300	6503	SO:0001587	stop_gained	4071			M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.259C>T	3.37:g.149093475G>A	ENSP00000304277:p.Arg87*		Q6IB51	Nonsense_Mutation	SNP	ENST00000305366.3	37	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	G	37	6.444988	0.97572	.	.	ENSG00000169908	ENST00000305366;ENST00000383054	.	.	.	5.77	0.387	0.16259	.	0.141035	0.47852	D	0.000210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6632	14.9699	0.71226	0.0:0.0:0.4858:0.5142	.	.	.	.	X	87	.	ENSP00000304277:R87X	R	-	1	2	TM4SF1	150576165	0.999000	0.42202	0.881000	0.34555	0.947000	0.59692	0.628000	0.24522	-0.156000	0.11079	-0.262000	0.10625	CGA		0.512	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			A	149093475	G	A	149093475	4	1	43	1	0	0	0	0	0	1	0	0	15963	1153	40	1	365	1	TM4SF1	3	149093475	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5401994	149093475	48928955	193	3370											
WDR49	151790	broad.mit.edu	37	chr3	167272531	167272531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatttgtgaaatatccacaGctccatcttgcccaacattt	11	13	6	11	0	1	1	0	1	1	0	3	2	3	2	3	1	3	1	3	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:167272531G>T	ENST00000308378.3	-	6	1012	c.707C>A	c.(706-708)gCt>gAt	p.A236D	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.A289D|WDR49_ENST00000476376.1_Missense_Mutation_p.A61D	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATATCCACAGCTCCATCTTG	0.363																																						.											0													148	139	142					3																	167272531		2203	4298	6501	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.707C>A	3.37:g.167272531G>T	ENSP00000311343:p.Ala236Asp		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.568457|1.568457	0.28003|0.28003	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.55930|.	0.49;1.26;0.89|.	5.36|5.36	1.22|1.22	0.21188|0.21188	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.703897|.	0.14640|.	N|.	0.307292|.	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.38531|0.38531	1.155|1.155	0.25661|0.25661	N|N	0.986003|0.986003	B;B|.	0.14805|.	0.011;0.009|.	B;B|.	0.13407|.	0.009;0.006|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.32370|.	T|.	0.25|.	.|.	5.3587|5.3587	0.16075|0.16075	0.1605:0.0:0.5575:0.2821|0.1605:0.0:0.5575:0.2821	.|.	289;236|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	D|M	236;61;289|301	ENSP00000311343:A236D;ENSP00000420508:A61D;ENSP00000410863:A289D|.	ENSP00000311343:A236D|.	A|L	-|-	2|1	0|2	WDR49|WDR49	168755225|168755225	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.632000|0.632000	0.37999|0.37999	1.040000|1.040000	0.30278|0.30278	0.230000|0.230000	0.21059|0.21059	0.585000|0.585000	0.79938|0.79938	GCT|CTG		0.363	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		T	167272531	G	T	167272531	3	4	43	1	0	0	0	0	1	0	0	0	17299	971	34	5	1426	5	WDR49	3	167272531	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	18179056	167272531	30749899	194	3371											
DCUN1D1	54165	broad.mit.edu	37	chr3	182681755	182681755	+	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	ttccacgcaataatcaacacActaatgctggctggatcgag	13	9	8	11	2	1	0	1	0	0	0	3	2	2	1	1	2	2	3	1	2	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:182681755A>G	ENST00000292782.4	-	3	456	c.303T>C	c.(301-303)agT>agC	p.S101S	DCUN1D1_ENST00000469954.1_Silent_p.S86S	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	101	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)		p.S101R(1)		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)			TAATCAACACACTAATGCTGG	0.418																																						.											1	Substitution - Missense(1)	ovary(1)											152	125	134					3																	182681755		2203	4300	6503	SO:0001819	synonymous_variant	54165			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.303T>C	3.37:g.182681755A>G			B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Silent	SNP	ENST00000292782.4	37	CCDS3240.1																																																																																				0.418	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		G	182681755	A	G	182681755	2	3	43	1	0	0	0	0	0	0	0	1	4313	156	6	2		2	DCUN1D1	3	182681755	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	15409224	182681755	15340675	195	3372											
EIF4G1	1981	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr3	184038753	184038753	+	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	cctcaagctaatggggagacGccccaggttgctgtcattgt	8	10	12	11	1	2	1	2	0	0	1	2	2	2	1	3	3	2	3	3	3	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:184038753G>A	ENST00000346169.2	+	9	940	c.669G>A	c.(667-669)acG>acA	p.T223T	EIF4G1_ENST00000414031.1_Silent_p.T183T|EIF4G1_ENST00000382330.3_Silent_p.T230T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.T27T|EIF4G1_ENST00000434061.2_Silent_p.T27T|EIF4G1_ENST00000441154.1_Silent_p.T59T|EIF4G1_ENST00000411531.1_Silent_p.T183T|EIF4G1_ENST00000350481.5_Silent_p.T59T|EIF4G1_ENST00000424196.1_Silent_p.T230T|EIF4G1_ENST00000427845.1_Silent_p.T136T|EIF4G1_ENST00000342981.4_Silent_p.T223T|EIF4G1_ENST00000392537.2_Silent_p.T136T|EIF4G1_ENST00000319274.6_Silent_p.T223T|EIF4G1_ENST00000352767.3_Silent_p.T230T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	223					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)			ATGGGGAGACGCCCCAGGTTG	0.532																																						.											0													48	46	47					3																	184038753		2203	4300	6503	SO:0001819	synonymous_variant	1981			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.669G>A	3.37:g.184038753G>A			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		A	184038753	G	A	184038753	2	1	43	1	0	0	0	0	0	0	0	1	5036	1074	38	1		1	EIF4G1	3	184038753	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1356998	184038753	13983677	196	3373											
CLCN2	1181	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	184073265	184073265	+	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	gctcctccaccaggccctggCggacccacgtccgattgtca	6	7	10	18	3	1	0	1	0	0	0	4	2	4	1	6	3	0	1	6	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:184073265C>T	ENST00000265593.4	-	12	1394	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	CLCN2_ENST00000344937.7_Missense_Mutation_p.R408H|CLCN2_ENST00000475279.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49H|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364H|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	408					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGCCCTGGCGGACCCACGT	0.587																																						.											0													129	115	120					3																	184073265		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1223G>A	3.37:g.184073265C>T	ENSP00000265593:p.Arg408His		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	13.81	2.349514	0.41599	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000423355;ENST00000434054;ENST00000457512	D;D;T;D;D	0.85013	-1.88;-1.83;-0.36;-1.93;-1.92	5.6	3.81	0.43845	Chloride channel, core (2);	0.322809	0.33732	N	0.004606	T	0.78572	0.4304	L	0.40543	1.245	0.33251	D	0.558472	B;B;B;B;B	0.18741	0.02;0.03;0.013;0.011;0.03	B;B;B;B;B	0.19391	0.013;0.025;0.01;0.004;0.015	T	0.75825	-0.3181	10	0.56958	D	0.05	-8.8308	9.476	0.38871	0.0:0.6653:0.0:0.3347	.	408;364;408;408;408	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	H	408;408;49;364;408	ENSP00000265593:R408H;ENSP00000345056:R408H;ENSP00000412226:R49H;ENSP00000400425:R364H;ENSP00000391928:R408H	ENSP00000265593:R408H	R	-	2	0	CLCN2	185555959	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.782000	0.38654	0.342000	0.23796	-1.119000	0.02030	CGC		0.587	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			T	184073265	C	T	184073265	3	4	43	1	0	0	0	0	1	0	0	0	3463	768	27	1	1525	1	CLCN2	3	184073265	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	34512	184073265	13949165	197	3374											
DGKG	1608	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	185993360	185993360	+	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	gcagcacaggccttgcttgcGgacgcccatgagcatgatat	9	8	12	12	2	0	2	0	2	0	0	0	3	0	3	2	2	4	4	2	2	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:185993360G>A	ENST00000265022.3	-	10	1425	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	DGKG_ENST00000382164.4_Missense_Mutation_p.R296C|DGKG_ENST00000544847.1_Missense_Mutation_p.R296C|DGKG_ENST00000344484.4_Missense_Mutation_p.R296C	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	296					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)	CCTTGCTTGCGGACGCCCATG	0.547																																						.											0													114	99	104					3																	185993360		2203	4300	6503	SO:0001583	missense	1608			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.886C>T	3.37:g.185993360G>A	ENSP00000265022:p.Arg296Cys		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079743	0.55753	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691;ENST00000437018	D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16	5.31	3.47	0.39725	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.140036	0.48767	D	0.000164	D	0.94195	0.8137	L	0.55990	1.75	0.58432	D	0.999994	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	P;P;P;P	0.61722	0.88;0.828;0.88;0.893	D	0.93299	0.6675	10	0.72032	D	0.01	.	10.2937	0.43612	0.0:0.2752:0.5826:0.1422	.	296;296;296;296	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	C	296;296;296;296;299;47	ENSP00000265022:R296C;ENSP00000339777:R296C;ENSP00000371599:R296C;ENSP00000440507:R296C;ENSP00000395526:R47C	ENSP00000265022:R296C	R	-	1	0	DGKG	187476054	0.792000	0.28813	0.643000	0.29450	0.945000	0.59286	1.063000	0.30567	0.680000	0.31366	0.655000	0.94253	CGC		0.547	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			A	185993360	G	A	185993360	3	1	43	1	0	0	0	0	1	0	0	0	4469	1116	39	1	1553	1	DGKG	3	185993360	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1920095	185993360	12029070	198	3375											
TP63	8626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	189526150	189526150	+	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	agtccctataacacagaccaCgcgcagaacagcgtcacggc	13	4	9	15	4	1	2	1	0	0	2	2	2	2	2	2	1	3	1	2	1	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:189526150C>T	ENST00000264731.3	+	4	503	c.414C>T	c.(412-414)caC>caT	p.H138H	TP63_ENST00000440651.2_Silent_p.H138H|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Silent_p.H138H|TP63_ENST00000392463.2_Silent_p.H44H|TP63_ENST00000354600.5_Silent_p.H44H|TP63_ENST00000437221.1_Silent_p.H44H|TP63_ENST00000382063.4_Intron|TP63_ENST00000392461.3_Silent_p.H44H|TP63_ENST00000392460.3_Silent_p.H138H|TP63_ENST00000418709.2_Silent_p.H138H|TP63_ENST00000456148.1_Silent_p.H44H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	138					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)		ACACAGACCACGCGCAGAACA	0.612										HNSCC(45;0.13)																												.											0													180	135	150					3																	189526150		2203	4300	6503	SO:0001819	synonymous_variant	8626			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.414C>T	3.37:g.189526150C>T			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	Silent	SNP	ENST00000264731.3	37	CCDS3293.1																																																																																				0.612	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		T	189526150	C	T	189526150	2	4	43	1	0	0	0	0	0	0	0	1	16389	535	19	1		1	TP63	3	189526150	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3532790	189526150	8496280	199	3376											
ATP13A3	79572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	194149621	194149621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcaatgaagagaaacTggaagtctcctaggttactt	14	10	9	8	0	2	3	1	1	1	2	3	5	2	4	2	2	2	1	2	2	6	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:194149621T>C	ENST00000439040.1	-	28	3691	c.2900A>G	c.(2899-2901)cAg>cGg	p.Q967R	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Q967R			Q9H7F0	AT133_HUMAN	ATPase type 13A3	967						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAAGAGAAACTGGAAGTCTCC	0.294																																						.											0													59	55	56					3																	194149621		1809	4065	5874	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2900A>G	3.37:g.194149621T>C	ENSP00000416508:p.Gln967Arg		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751223	0.89753	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.92249	-3.0;-3.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.94021	3.485	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.97978	1.0347	10	0.87932	D	0	0.0469	15.3339	0.74234	0.0:0.0:0.0:1.0	.	967	Q9H7F0	AT133_HUMAN	R	967	ENSP00000416508:Q967R;ENSP00000256031:Q967R	ENSP00000256031:Q967R	Q	-	2	0	ATP13A3	195630910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.279000	0.76181	0.533000	0.62120	CAG		0.294	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		C	194149621	T	C	194149621	3	2	43	1	0	0	0	0	1	0	0	0	1125	1580	55	2	804	2	ATP13A3	3	194149621	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	4623471	194149621	3872809	200	3377											
DLG1	1739	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	196792176	196792176	+	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	tacttctcgtacagactgaaCacttgttccatatagatgat	12	14	6	9	1	1	4	0	2	1	2	3	4	2	4	1	0	3	2	1	0	5	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:196792176C>T	ENST00000419354.1	-	23	2663	c.2377G>A	c.(2377-2379)Gtt>Att	p.V793I	DLG1_ENST00000448528.2_Missense_Mutation_p.V793I|DLG1_ENST00000357674.4_Missense_Mutation_p.V782I|DLG1_ENST00000443183.1_Missense_Mutation_p.V689I|DLG1_ENST00000346964.2_Missense_Mutation_p.V815I|DLG1_ENST00000452595.1_Missense_Mutation_p.V677I|DLG1_ENST00000314062.3_Missense_Mutation_p.V742I|DLG1_ENST00000450955.1_Missense_Mutation_p.V782I|DLG1_ENST00000392382.2_Missense_Mutation_p.V760I|DLG1_ENST00000422288.1_Missense_Mutation_p.V742I			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	793	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACAGACTGAACACTTGTTCCA	0.373																																						.											0													235	236	235					3																	196792176		2203	4300	6503	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2377G>A	3.37:g.196792176C>T	ENSP00000407531:p.Val793Ile		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268692	0.40095	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.32	5.32	0.75619	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	N	0.12663	0.25	0.49582	D	0.999805	B;P;B;P;B	0.40302	0.087;0.712;0.174;0.479;0.145	B;B;B;B;B	0.38225	0.025;0.252;0.075;0.268;0.045	T	0.24225	-1.0166	10	0.14252	T	0.57	.	17.9766	0.89129	0.0:1.0:0.0:0.0	.	782;677;689;793;815	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	I	815;806;782;780;742;793;677;742;793;689;760;782	ENSP00000345731:V815I;ENSP00000350303:V782I;ENSP00000321087:V742I;ENSP00000407531:V793I;ENSP00000398939:V677I;ENSP00000413238:V742I;ENSP00000391732:V793I;ENSP00000396658:V689I;ENSP00000376187:V760I;ENSP00000411278:V782I	ENSP00000321087:V742I	V	-	1	0	DLG1	198276573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.844000	0.48246	2.497000	0.84241	0.467000	0.42956	GTT		0.373	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		T	196792176	C	T	196792176	3	4	43	1	0	0	0	0	1	0	0	0	4554	478	17	4	353	4	DLG1	3	196792176	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2642555	196792176	1230254	201	3378											
SLC26A1	10861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	983647	983647	+	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	tgactgcgggcgaacatctcCgccagcgagatggagaaggc	10	5	15	11	4	1	3	0	1	1	2	2	6	1	3	2	3	3	0	2	3	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:983647C>T	ENST00000361661.2	-	4	1457	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	SLC26A1_ENST00000398516.2_Silent_p.A360A|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	360					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGAACATCTCCGCCAGCGAGA	0.662																																						.											0													14	12	13					4																	983647		2149	4239	6388	SO:0001819	synonymous_variant	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1080G>A	4.37:g.983647C>T			A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000361661.2	37	CCDS33934.1																																																																																				0.662	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		T	983647	C	T	983647	2	4	43	1	0	0	0	0	0	0	0	1	14514	639	23	1		1	SLC26A1	4	983647	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10		983647	190170629	202	3379											
FGFRL1	53834	ucsc.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-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	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																																						.											0													6	8	7					4																	1017489		2156	4227	6383	SO:0001583	missense	53834				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		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	43	1	0	0	0	0	1	0	0	0	5869	275	10	5	423	5	FGFRL1	4	1017489	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	33842	1017489	190136787	203	3380											
KIAA1530	57654	ucsc.edu	37	chr4	1377724	1377724	+	Missense_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	gcattgggagaaaagtcttcGccaagtaagagtggctgctg	11	9	14	7	1	1	2	0	0	1	2	2	3	1	2	1	2	1	4	1	2	4	3	rs139310992	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1377724G>A	ENST00000389851.4	+	13	2479	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	UVSSA_ENST00000511563.1_Missense_Mutation_p.A229T|UVSSA_ENST00000507531.1_Missense_Mutation_p.A678T|UVSSA_ENST00000511216.1_Missense_Mutation_p.A678T|UVSSA_ENST00000512728.1_Missense_Mutation_p.A229T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	678					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										AAAAGTCTTCGCCAAGTAAGA	0.627													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		16905	0		0	False		,,,				2504	0					.											0								G	THR/ALA	17,4385	24.3+/-50.5	1,15,2185	53	50	51		2032	2.2	1	4	dbSNP_134	51	0,8600		0,0,4300	yes	missense	KIAA1530	NM_020894.2	58	1,15,6485	AA,AG,GG		0.0,0.3862,0.1307	possibly-damaging	678/710	1377724	17,12985	2201	4300	6501	SO:0001583	missense	57654			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.2032G>A	4.37:g.1377724G>A	ENSP00000374501:p.Ala678Thr		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.25	1.881607	0.33255	0.003862	0.0	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.44083	1.53;1.53;1.53;0.93;0.93	4.99	2.15	0.27550	.	0.336647	0.31821	N	0.007019	T	0.27967	0.0689	L	0.60455	1.87	0.26539	N	0.974118	P	0.44946	0.846	B	0.34242	0.178	T	0.17349	-1.0372	10	0.30078	T	0.28	.	4.1502	0.10234	0.2149:0.4065:0.3786:0.0	.	678	Q2YD98	K1530_HUMAN	T	678;678;678;229;229	ENSP00000425130:A678T;ENSP00000374501:A678T;ENSP00000421741:A678T;ENSP00000423340:A229T;ENSP00000427701:A229T	ENSP00000374501:A678T	A	+	1	0	KIAA1530	1367724	1.000000	0.71417	0.988000	0.46212	0.389000	0.30415	3.855000	0.55957	0.566000	0.29273	0.505000	0.49811	GCC		0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		A	1377724	G	A	1377724	3	1	43	1	0	0	0	0	1	0	0	0	8241	1087	38	1	2078	1	KIAA1530	4	1377724	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	360235	1377724	189776552	204	3381											
TACC3	10460	broad.mit.edu	37	chr4	1746487	1746487	+	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	agcaaggcccaggcggaagcGttggccctccaggccagcct	8	4	14	15	2	0	0	0	0	0	0	1	1	1	1	5	5	3	2	5	5	2	1	rs148572882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1746487G>A	ENST00000313288.4	+	15	2485	c.2379G>A	c.(2377-2379)gcG>gcA	p.A793A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	793					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGGCGGAAGCGTTGGCCCTCC	0.672																																					Ovarian(120;482 2294 11894 35824)	.											0								G		1,4391	2.1+/-5.4	0,1,2195	27	28	28		2379	-10.4	0	4	dbSNP_134	28	1,8595		0,1,4297	no	coding-synonymous	TACC3	NM_006342.1		0,2,6492	AA,AG,GG		0.0116,0.0228,0.0154		793/839	1746487	2,12986	2196	4298	6494	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2379G>A	4.37:g.1746487G>A			Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																				0.672	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			A	1746487	G	A	1746487	2	1	43	1	0	0	0	0	0	0	0	1	15500	1132	40	1		1	TACC3	4	1746487	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	368763	1746487	189407789	205	3382											
NOP14	8602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	2950032	2950032	+	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	tttgctttgtttccttctgcGagactcgggtggttgcactt	3	18	11	9	2	1	1	0	0	1	1	3	2	2	1	1	2	3	4	1	2	0	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:2950032G>A	ENST00000314262.6	-	9	1434	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Silent_p.L462L|NOP14_ENST00000502735.1_Silent_p.L462L|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Silent_p.L462L	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	462					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						TTCCTTCTGCGAGACTCGGGT	0.473																																						.											0													258	204	222					4																	2950032		2203	4300	6503	SO:0001819	synonymous_variant	8602			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.1386C>T	4.37:g.2950032G>A			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.473	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		A	2950032	G	A	2950032	2	1	43	1	0	0	0	0	0	0	0	1	10536	1045	37	1		1	NOP14	4	2950032	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1203545	2950032	188204244	206	3383											
HTT	3064	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	3107131	3107131	+	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	gccctgtggaggtttgctgaGctggctcacctggttcggcc	3	11	15	12	1	1	1	1	1	0	0	2	2	1	2	3	5	2	5	3	5	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:3107131G>A	ENST00000355072.5	+	5	721	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	192					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)		GGTTTGCTGAGCTGGCTCACC	0.532																																						.											0													115	119	118					4																	3107131		2151	4272	6423	SO:0001819	synonymous_variant	3064			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.576G>A	4.37:g.3107131G>A			Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.532	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3107131	G	A	3107131	2	1	43	1	0	0	0	0	0	0	0	1	7457	962	34	4		4	HTT	4	3107131	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	157099	3107131	188047145	207	3384											
HGFAC	3083	hgsc.bcm.edu;mdanderson.org	37	chr4	3446155	3446155	+	Missense_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	gggccggacctggtgcgaagGcacccgacatacaggtgcgc	8	4	16	13	4	0	0	0	0	0	0	0	3	0	1	3	5	3	1	3	5	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:3446155G>A	ENST00000382774.3	+	6	831	c.716G>A	c.(715-717)gGc>gAc	p.G239D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G239D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	239	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGGTGCGAAGGCACCCGACAT	0.701																																						.											0													10	12	11					4																	3446155		2169	4276	6445	SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.716G>A	4.37:g.3446155G>A	ENSP00000372224:p.Gly239Asp		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	0.101	-1.152830	0.01700	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88201	-2.35;-2.32	3.74	-2.65	0.06095	Fibronectin, type I (2);	0.603497	0.17051	N	0.188911	T	0.73418	0.3584	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.58014	-0.7711	10	0.12103	T	0.63	.	4.4014	0.11388	0.6291:0.1705:0.2004:0.0	.	239;239	D6RAR4;Q04756	.;HGFA_HUMAN	D	239	ENSP00000372224:G239D;ENSP00000421801:G239D	ENSP00000372224:G239D	G	+	2	0	HGFAC	3415953	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.212000	0.09319	-0.124000	0.11724	0.462000	0.41574	GGC		0.701	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3446155	G	A	3446155	3	1	43	1	0	0	0	0	1	0	0	0	7086	1203	42	3	738	3	HGFAC	4	3446155	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	339024	3446155	187708121	208	3385											
ZBTB49	166793	ucsc.edu;mdanderson.org	37	chr4	4322722	4322722	+	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	tgtaagttacggtccatgatCcaacctcatggagttagtga	11	12	10	8	1	1	2	1	2	0	0	3	3	3	3	3	2	2	3	3	2	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:4322722C>T	ENST00000337872.4	+	8	2098	c.1977C>T	c.(1975-1977)atC>atT	p.I659I	ZBTB49_ENST00000355834.3_Silent_p.I537I|ZBTB49_ENST00000538529.1_Silent_p.I142I|RP11-265O12.1_ENST00000509015.1_lincRNA	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	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)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GGTCCATGATCCAACCTCATG	0.507																																						.											0													44	43	43					4																	4322722		2203	4300	6503	SO:0001819	synonymous_variant	166793			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.1977C>T	4.37:g.4322722C>T			Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	CCDS3375.1																																																																																				0.507	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		T	4322722	C	T	4322722	2	4	43	1	0	0	0	0	0	0	0	1	17547	845	30	3		3	ZBTB49	4	4322722	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	876567	4322722	186831554	209	3386											
SORCS2	57537	broad.mit.edu	37	chr4	7725501	7725501	+	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	tacgtgaaccttacactgacCggggagcccatccggcaccg	9	6	11	15	4	0	2	0	2	0	0	1	3	1	3	5	3	4	1	5	3	3	2	rs566460730	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:7725501C>T	ENST00000507866.2	+	19	2611	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	SORCS2_ENST00000329016.9_Silent_p.T662T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	834	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTACACTGACCGGGGAGCCCA	0.612													C|||	2	0.000399361	0	0	5008	,	,		17345	0.001		0.001	False		,,,				2504	0					.											0													129	131	130					4																	7725501		2078	4198	6276	SO:0001819	synonymous_variant	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2502C>T	4.37:g.7725501C>T			Q9P2L7	Silent	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																				0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		T	7725501	C	T	7725501	2	4	43	1	0	0	0	0	0	0	0	1	14931	639	23	1		1	SORCS2	4	7725501	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3402779	7725501	183428775	210	3387											
CPZ	8532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	8607769	8607769	+	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	atggcaacgaggtggcgggcCgggagatgctcatctaccta	9	7	15	10	3	2	1	1	0	1	1	2	3	2	1	2	5	3	2	2	5	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:8607769C>T	ENST00000360986.4	+	5	937	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	CPZ_ENST00000382480.2_Missense_Mutation_p.R118W|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R244W	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	255					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						GGTGGCGGGCCGGGAGATGCT	0.602																																						.											0													132	107	115					4																	8607769		2203	4300	6503	SO:0001583	missense	8532			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.763C>T	4.37:g.8607769C>T	ENSP00000354255:p.Arg255Trp		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.366907	0.61513	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.12465	2.68;2.68;2.68	3.41	1.33	0.21861	Peptidase M14, carboxypeptidase A (1);	0.260464	0.30201	U	0.010174	T	0.45397	0.1340	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57353	-0.7826	10	0.87932	D	0	-31.5712	10.5322	0.44983	0.4571:0.5429:0.0:0.0	.	244;255	Q66K79-2;Q66K79	.;CBPZ_HUMAN	W	255;118;244	ENSP00000354255:R255W;ENSP00000371920:R118W;ENSP00000315074:R244W	ENSP00000315074:R244W	R	+	1	2	CPZ	8658669	0.870000	0.30015	0.889000	0.34880	0.636000	0.38137	1.403000	0.34612	0.631000	0.30412	0.461000	0.40582	CGG		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8607769	C	T	8607769	3	4	43	1	0	0	0	0	1	0	0	0	3839	643	23	1	781	1	CPZ	4	8607769	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	882268	8607769	182546507	211	3388											
HS3ST1	9957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	11401504	11401504	+	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	ccgtttggggccacgccatcGcggacgtcatcctggagggt	5	8	15	13	5	1	0	1	0	0	0	3	2	2	2	4	5	0	1	4	5	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:11401504G>A	ENST00000002596.5	-	2	1300	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	42					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCACGCCATCGCGGACGTCAT	0.692																																						.											0													23	22	22					4																	11401504		2200	4294	6494	SO:0001819	synonymous_variant	9957			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.126C>T	4.37:g.11401504G>A			B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	CCDS3408.1																																																																																				0.692	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		A	11401504	G	A	11401504	2	1	43	1	0	0	0	0	0	0	0	1	7363	1074	38	1		1	HS3ST1	4	11401504	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2793735	11401504	179752772	212	3389											
BOD1L	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	13592029	13592029	+	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	cctcctttgttataagattcGctatgaatttcttcatttgt	8	20	5	8	1	2	2	1	1	1	1	4	2	3	2	2	0	0	2	2	0	4	8	rs555836394		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:13592029G>A	ENST00000040738.5	-	14	8325	c.8190C>T	c.(8188-8190)agC>agT	p.S2730S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2730						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2730S(1)									TATAAGATTCGCTATGAATTT	0.274													G|||	1	0.000199681	0	0.0014	5008	,	,		14939	0		0	False		,,,				2504	0					.											1	Substitution - coding silent(1)	large_intestine(1)											22	24	24					4																	13592029		2182	4267	6449	SO:0001819	synonymous_variant	259282			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.8190C>T	4.37:g.13592029G>A			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.274	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13592029	G	A	13592029	2	1	43	1	0	0	0	0	0	0	0	1	1483	1078	38	1		1	BOD1L	4	13592029	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2190525	13592029	177562247	213	3390											
SLIT2	9353	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	20533609	20533609	+	Missense_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	tccttcttttttcttcaggcGtctcaataataatgaattta	10	19	4	8	1	4	1	2	1	3	0	6	1	5	1	1	1	0	0	1	1	5	9			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:20533609G>A	ENST00000504154.1	+	17	1868	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	SLIT2_ENST00000273739.5_Missense_Mutation_p.R543H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R535H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R531H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	539					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						TTCTTCAGGCGTCTCAATAAT	0.279																																						.											0													45	44	44					4																	20533609		2203	4294	6497	SO:0001583	missense	9353			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.1616G>A	4.37:g.20533609G>A	ENSP00000422591:p.Arg539His		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757477	0.89843	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	N	0.20807	0.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.71870	0.975;0.9	T	0.05767	-1.0865	10	0.14252	T	0.57	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	531;539	O94813-3;O94813	.;SLIT2_HUMAN	H	531;539;543;535;535	ENSP00000427548:R531H;ENSP00000422591:R539H;ENSP00000273739:R543H;ENSP00000422261:R535H	ENSP00000273739:R543H	R	+	2	0	SLIT2	20142707	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.230000	0.95299	2.709000	0.92574	0.655000	0.94253	CGT		0.279	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20533609	G	A	20533609	3	1	43	1	0	0	0	0	1	0	0	0	14740	1145	40	1	1682	1	SLIT2	4	20533609	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6941580	20533609	170620667	214	3391											
CCKAR	886	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	26483646	26483646	+	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	ggccatcaggttggctgcggAgctgttactccggatgcggt	5	10	16	10	3	1	0	1	0	0	0	2	2	2	2	2	6	4	4	2	6	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:26483646A>C	ENST00000295589.3	-	5	1095	c.901T>G	c.(901-903)Tcc>Gcc	p.S301A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	301					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTGGCTGCGGAGCTGTTACTC	0.612																																						.											0													103	90	95					4																	26483646		2203	4300	6503	SO:0001583	missense	886			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.901T>G	4.37:g.26483646A>C	ENSP00000295589:p.Ser301Ala		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	9.149	1.015752	0.19355	.	.	ENSG00000163394	ENST00000295589	T	0.39056	1.1	5.16	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.112402	0.64402	D	0.000006	T	0.33206	0.0855	L	0.52206	1.635	0.39202	D	0.963159	B	0.11235	0.004	B	0.22152	0.038	T	0.12066	-1.0562	10	0.08599	T	0.76	.	9.7742	0.40609	0.9156:0.0:0.0844:0.0	.	301	P32238	CCKAR_HUMAN	A	301	ENSP00000295589:S301A	ENSP00000295589:S301A	S	-	1	0	CCKAR	26092744	1.000000	0.71417	0.977000	0.42913	0.331000	0.28603	5.896000	0.69822	0.824000	0.34613	0.379000	0.24179	TCC		0.612	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			C	26483646	A	C	26483646	3	2	43	1	0	0	0	0	1	0	0	0	2880	304	11	5	389	5	CCKAR	4	26483646	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5950037	26483646	164670630	215	3392											
PTTG2	23216	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	37962188	37962188	+	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	tatctcaagttttaacacgaCgttttggcaaaacatacgat	14	13	6	8	3	1	0	1	0	1	0	2	2	1	0	0	1	3	3	0	1	6	6	rs544810432		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:37962188C>T	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Missense_Mutation_p.R45C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTTAACACGACGTTTTGGCAA	0.463													C|||	1	0.000199681	0	0	5008	,	,		20063	0		0.001	False		,,,				2504	0					.											0													71	75	73					4																	37962188		2201	4300	6501	SO:0001627	intron_variant	10744			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53942C>T	4.37:g.37962188C>T			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040670	0.08196	.	.	ENSG00000250254	ENST00000504686	T	0.54071	0.59	1.89	-0.253	0.12996	.	.	.	.	.	T	0.31575	0.0801	N	0.17674	0.51	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.21008	-1.0258	9	0.66056	D	0.02	.	3.0078	0.06034	0.2579:0.5633:0.0:0.1789	.	45	Q9NZH5-2	.	C	45	ENSP00000424261:R45C	ENSP00000424261:R45C	R	+	1	0	PTTG2	37638583	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	-0.600000	0.05693	-0.316000	0.08690	-1.559000	0.00887	CGT		0.463	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		T	37962188	C	T	37962188	1	4	43	0	1	0	0	0	0	0	0	0	12821	536	19	1		1	PTTG2	4	37962188	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11478542	37962188	153192088	216	3393											
KIAA1211	57482	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	57182448	57182448	+	Missense_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	cgctgaaccttccagcagccGctctgttcctgtggcccacc	5	9	9	18	2	1	1	0	1	1	0	3	1	3	1	6	1	3	4	6	1	1	2	rs200653846	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57182448G>A	ENST00000504228.1	+	6	2885	c.2780G>A	c.(2779-2781)cGc>cAc	p.R927H	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R927H|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R920H			Q6ZU35	K1211_HUMAN	KIAA1211	927										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCCAGCAGCCGCTCTGTTCCT	0.647													G|||	4	0.000798722	0	0.0014	5008	,	,		15311	0		0.003	False		,,,				2504	0					.											0								G	HIS/ARG	6,4112		0,6,2053	26	36	33		2780	-7.1	0	4		33	40,8350		1,38,4156	yes	missense	KIAA1211	NM_020722.1	29	1,44,6209	AA,AG,GG		0.4768,0.1457,0.3678	benign	927/1234	57182448	46,12462	2059	4195	6254	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2780G>A	4.37:g.57182448G>A	ENSP00000423366:p.Arg927His		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	11	0.005036630036630037	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	G	5.871	0.344809	0.11126	0.001457	0.004768	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11604	2.77;2.77;2.76	3.53	-7.05	0.01573	.	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.41770	-0.9490	9	0.15066	T	0.55	-2.4439	0.2445	0.00197	0.3509:0.2295:0.1952:0.2244	.	920;920;927	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	927;927;920;837	ENSP00000264229:R927H;ENSP00000423366:R927H;ENSP00000444006:R920H	ENSP00000264229:R927H	R	+	2	0	KIAA1211	56877205	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.670000	0.05256	-1.491000	0.01840	-0.502000	0.04539	CGC		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57182448	G	A	57182448	3	1	43	1	0	0	0	0	1	0	0	0	8215	1087	38	1	2798	1	KIAA1211	4	57182448	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	19220260	57182448	133971828	217	3394											
KIAA1211	57482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	57189672	57189672	+	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	gtttcgggagcagcaggcgaCgcgggaggagagaaagcaag	12	3	19	7	4	0	1	0	0	0	1	1	6	0	4	0	4	3	4	0	4	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57189672C>T	ENST00000504228.1	+	7	3422	c.3317C>T	c.(3316-3318)aCg>aTg	p.T1106M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.T1106M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.T1099M			Q6ZU35	K1211_HUMAN	KIAA1211	1106										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGCAGGCGACGCGGGAGGAG	0.507																																						.											0													69	82	78					4																	57189672		1960	4139	6099	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3317C>T	4.37:g.57189672C>T	ENSP00000423366:p.Thr1106Met		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125700	0.37533	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.13538	2.59;2.59;2.58	5.5	5.5	0.81552	.	.	.	.	.	T	0.38639	0.1048	M	0.62723	1.935	0.22562	N	0.998984	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.13255	-1.0516	9	0.87932	D	0	-3.1528	19.4113	0.94673	0.0:1.0:0.0:0.0	.	1099;1106	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1106;1106;1099	ENSP00000264229:T1106M;ENSP00000423366:T1106M;ENSP00000444006:T1099M	ENSP00000264229:T1106M	T	+	2	0	KIAA1211	56884429	0.946000	0.32159	0.073000	0.20177	0.106000	0.19336	2.186000	0.42593	2.579000	0.87056	0.563000	0.77884	ACG		0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57189672	C	T	57189672	3	4	43	1	0	0	0	0	1	0	0	0	8215	536	19	1	3339	1	KIAA1211	4	57189672	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7224	57189672	133964604	218	3395											
PPAT	5471	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	57267640	57267640	+	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	ttctccaggcaagacttcacGgtaatatcttgggaaacaat	13	11	8	9	1	3	1	1	0	2	1	4	2	3	2	1	3	1	2	1	3	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57267640G>A	ENST00000264220.2	-	7	879	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	248	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	AAGACTTCACGGTAATATCTT	0.348																																						.											0													402	421	415					4																	57267640		2203	4300	6503	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.742C>T	4.37:g.57267640G>A	ENSP00000264220:p.Arg248Cys			Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359676	0.61403	.	.	ENSG00000128059	ENST00000264220	T	0.78707	-1.2	5.35	5.35	0.76521	Glutamine amidotransferase, type II (1);	0.045285	0.85682	D	0.000000	D	0.84875	0.5569	M	0.92367	3.3	0.80722	D	1	B	0.22983	0.078	B	0.25987	0.065	D	0.84585	0.0663	10	0.87932	D	0	-19.2629	19.4212	0.94721	0.0:0.0:1.0:0.0	.	248	Q06203	PUR1_HUMAN	C	248	ENSP00000264220:R248C	ENSP00000264220:R248C	R	-	1	0	PPAT	56962397	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.145000	0.71769	2.675000	0.91044	0.650000	0.86243	CGT		0.348	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		A	57267640	G	A	57267640	3	1	43	1	0	0	0	0	1	0	0	0	12302	1116	39	1	831	1	PPAT	4	57267640	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	77968	57267640	133886636	219	3396											
SRP72	6731	mdanderson.org;bcgsc.ca	37	chr4	57344581	57344581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacaggcagaactggccAtcattcatggtcagatggct	11	8	10	12	0	3	2	3	0	0	2	3	2	3	2	2	4	1	2	2	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57344581A>G	ENST00000342756.5	+	7	1400	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	227					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AGAACTGGCCATCATTCATGG	0.373																																						.											0													58	57	57					4																	57344581		2203	4300	6503	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.679A>G	4.37:g.57344581A>G	ENSP00000342181:p.Ile227Val		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	A	5.002	0.185997	0.09495	.	.	ENSG00000174780	ENST00000342756;ENST00000505314	D	0.93763	-3.28	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049028	0.85682	D	0.000000	T	0.82176	0.4980	N	0.03050	-0.425	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.14023	0.006;0.01	T	0.77520	-0.2557	10	0.14252	T	0.57	.	12.8538	0.57873	1.0:0.0:0.0:0.0	.	227;227	Q86X80;O76094	.;SRP72_HUMAN	V	227;32	ENSP00000342181:I227V	ENSP00000342181:I227V	I	+	1	0	SRP72	57039338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.095000	0.71439	1.913000	0.55393	0.528000	0.53228	ATC		0.373	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			G	57344581	A	G	57344581	3	3	43	1	0	0	0	0	1	0	0	0	15156	217	8	4	705	4	SRP72	4	57344581	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	76941	57344581	133809695	220	3397											
SHROOM3	57619	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	77691990	77691990	+	Missense_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	gctgctctccctctcggggcGtctagcccgtgttgagaatg	4	11	13	13	3	3	1	0	1	3	1	5	2	3	1	2	2	2	3	2	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:77691990G>A	ENST00000296043.6	+	10	6514	c.5561G>A	c.(5560-5562)cGt>cAt	p.R1854H	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1854	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)			CTCTCGGGGCGTCTAGCCCGT	0.517																																						.											0													132	132	132					4																	77691990		2203	4300	6503	SO:0001583	missense	57619			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.5561G>A	4.37:g.77691990G>A	ENSP00000296043:p.Arg1854His		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	31	5.096592	0.94197	.	.	ENSG00000138771	ENST00000296043	T	0.67171	-0.25	5.53	5.53	0.82687	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	D	0.85066	0.5612	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86671	0.1910	10	0.87932	D	0	-21.8478	19.6591	0.95857	0.0:0.0:1.0:0.0	.	1854	Q8TF72	SHRM3_HUMAN	H	1854	ENSP00000296043:R1854H	ENSP00000296043:R1854H	R	+	2	0	SHROOM3	77911014	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	9.657000	0.98554	2.879000	0.98667	0.650000	0.86243	CGT		0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77691990	G	A	77691990	3	1	43	1	0	0	0	0	1	0	0	0	14295	1145	40	1	5599	1	SHROOM3	4	77691990	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	20347409	77691990	113462286	221	3398											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	79236854	79236854	+	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	tgcatgtctgaatgccctggCgggtactatgctgatgccac	7	11	12	11	1	1	2	0	2	1	0	1	2	1	2	2	2	5	3	2	2	3	2	rs557214616		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:79236854C>T	ENST00000325942.6	+	16	2225	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	FRAS1_ENST00000264895.6_Silent_p.G595G|FRAS1_ENST00000264899.6_Silent_p.G595G	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	595					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						AATGCCCTGGCGGGTACTATG	0.483																																						.											0													109	106	107					4																	79236854		1986	4165	6151	SO:0001819	synonymous_variant	80144			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.1785C>T	4.37:g.79236854C>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.016|0.016	-1.531790|-1.531790	0.00951|0.00951	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.74|5.74	-5.79|-5.79	0.02354|0.02354	.|.	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	.|.	.|.	.|.	0.33376|0.33376	D|D	0.57422|0.57422	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53078|0.53078	-0.8489|-0.8489	4|4	.|.	.|.	.|.	.|.	9.0288|9.0288	0.36247|0.36247	0.0886:0.2912:0.0:0.6202|0.0886:0.2912:0.0:0.6202	.|.	.|.	.|.	.|.	V|W	524|438	.|.	.|.	A|R	+|+	2|1	0|2	FRAS1|FRAS1	79455878|79455878	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.001000|0.001000	0.01503|0.01503	-0.538000|-0.538000	0.06120|0.06120	-0.754000|-0.754000	0.04715|0.04715	-2.655000|-2.655000	0.00148|0.00148	GCG|CGG		0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79236854	C	T	79236854	2	4	43	1	0	0	0	0	0	0	0	1	6042	755	27	1		1	FRAS1	4	79236854	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1544864	79236854	111917422	222	3399											
RASGEF1B	153020	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	82366931	82366931	+	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	tagcaaccaagtagctgaggCgattaaaccattccacgtaa	15	8	8	10	2	0	1	0	1	0	0	1	2	1	1	3	1	4	4	3	1	7	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:82366931C>T	ENST00000264400.2	-	7	942	c.791G>A	c.(790-792)cGc>cAc	p.R264H	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.R263H|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R222H	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	264	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						GTAGCTGAGGCGATTAAACCA	0.353																																						.											0													95	92	93					4																	82366931		2203	4300	6503	SO:0001583	missense	153020			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.791G>A	4.37:g.82366931C>T	ENSP00000264400:p.Arg264His		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622406	0.87460	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.44	4.6	0.57074	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.41492	1.28	0.80722	D	1	P;P;P	0.51351	0.944;0.858;0.884	P;P;P	0.48627	0.567;0.448;0.584	T	0.14811	-1.0459	10	0.66056	D	0.02	.	14.0876	0.64968	0.0:0.9274:0.0:0.0726	.	222;263;264	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	H	263;264;222;109	ENSP00000425393:R263H;ENSP00000264400:R264H;ENSP00000338437:R222H;ENSP00000426929:R109H	ENSP00000264400:R264H	R	-	2	0	RASGEF1B	82585955	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.320000	0.79064	1.536000	0.49237	0.655000	0.94253	CGC		0.353	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		T	82366931	C	T	82366931	3	4	43	1	0	0	0	0	1	0	0	0	13070	768	27	1	662	1	RASGEF1B	4	82366931	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3130077	82366931	108787345	223	3400											
SCD5	79966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	83557759	83557759	+	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	ctcaccaatggcacccagagCgacgagtgggttctgccgag	9	6	13	13	3	2	1	1	0	1	1	2	4	2	1	3	2	2	2	3	2	1	1	rs371261082		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:83557759C>T	ENST00000319540.4	-	4	1106	c.787G>A	c.(787-789)Gct>Act	p.A263T		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	263					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GCACCCAGAGCGACGAGTGGG	0.552																																						.											0								C	THR/ALA	0,4406		0,0,2203	89	80	83		787	0.7	0.1	4		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCD5	NM_001037582.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	263/331	83557759	1,13005	2203	4300	6503	SO:0001583	missense	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.787G>A	4.37:g.83557759C>T	ENSP00000316329:p.Ala263Thr		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	3.842	-0.033678	0.07543	0.0	1.16E-4	ENSG00000145284	ENST00000319540	T	0.15718	2.4	5.08	0.695	0.18070	Fatty acid desaturase, type 1 (1);	0.251785	0.47455	N	0.000229	T	0.14527	0.0351	L	0.54323	1.7	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.08351	-1.0726	10	0.31617	T	0.26	-3.3454	8.4765	0.33016	0.0:0.3574:0.0:0.6426	.	263	Q86SK9	SCD5_HUMAN	T	263	ENSP00000316329:A263T	ENSP00000316329:A263T	A	-	1	0	SCD5	83776783	0.987000	0.35691	0.102000	0.21198	0.034000	0.12701	0.707000	0.25704	0.056000	0.16144	-0.982000	0.02568	GCT		0.552	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		T	83557759	C	T	83557759	3	4	43	1	0	0	0	0	1	0	0	0	13887	768	27	1	213	1	SCD5	4	83557759	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1190828	83557759	107596517	224	3401											
WDFY3	23001	broad.mit.edu	37	chr4	85758218	85758218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtggaaggcactgacAttgttgtcatgcagtccacg	9	9	13	10	1	1	1	1	1	0	0	2	2	2	2	2	3	1	3	2	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:85758218A>G	ENST00000295888.4	-	7	847	c.440T>C	c.(439-441)aTg>aCg	p.M147T	WDFY3_ENST00000322366.6_Missense_Mutation_p.M147T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	147					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGCACTGACATTGTTGTCAT	0.403																																						.											0													73	67	69					4																	85758218		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.440T>C	4.37:g.85758218A>G	ENSP00000295888:p.Met147Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264860	0.40095	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.15834	2.39;2.39	5.76	5.76	0.90799	.	0.111475	0.85682	D	0.000000	T	0.09598	0.0236	N	0.08118	0	0.80722	D	1	B;B	0.33103	0.397;0.019	B;B	0.30782	0.12;0.008	T	0.34900	-0.9810	10	0.17832	T	0.49	.	16.0697	0.80914	1.0:0.0:0.0:0.0	.	147;147	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	T	147	ENSP00000318466:M147T;ENSP00000295888:M147T	ENSP00000295888:M147T	M	-	2	0	WDFY3	85977242	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.157000	0.94714	2.190000	0.69967	0.374000	0.22700	ATG		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85758218	A	G	85758218	3	3	43	1	0	0	0	0	1	0	0	0	17267	217	8	4	10431	4	WDFY3	4	85758218	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2200459	85758218	105396058	225	3402											
PTPN13	5783	bcgsc.ca	37	chr4	87728796	87728796	+	Missense_Mutation	SNP	T	T	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	taccagttgggaaagaagagTtcgtttacattgcctgccaa	12	11	10	8	1	0	2	0	0	0	2	1	3	0	3	3	1	4	3	3	1	5	6	rs199502086		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:87728796T>C	ENST00000411767.2	+	45	6892	c.6829T>C	c.(6829-6831)Ttc>Ctc	p.F2277L	PTPN13_ENST00000427191.2_Missense_Mutation_p.F2258L|PTPN13_ENST00000436978.1_Missense_Mutation_p.F2282L|PTPN13_ENST00000316707.6_Missense_Mutation_p.F2086L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F2282L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2277	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		GAAAGAAGAGTTCGTTTACAT	0.448																																						.											0													185	176	179					4																	87728796		1916	4122	6038	SO:0001583	missense	5783				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.6829T>C	4.37:g.87728796T>C	ENSP00000407249:p.Phe2277Leu		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900210	0.52227	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000187	T	0.68742	0.3034	N	0.12182	0.205	0.44477	D	0.997416	B;B;B;B	0.30914	0.11;0.162;0.3;0.255	B;B;B;B	0.28465	0.026;0.054;0.09;0.054	T	0.66956	-0.5792	10	0.16896	T	0.51	.	15.5763	0.76392	0.0:0.0:0.0:1.0	.	2086;2258;2277;2282	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	2258;2282;2086;2277;2282;2226	ENSP00000408368:F2258L;ENSP00000394794:F2282L;ENSP00000322675:F2086L;ENSP00000407249:F2277L;ENSP00000426626:F2282L	ENSP00000322675:F2086L	F	+	1	0	PTPN13	87947820	1.000000	0.71417	0.831000	0.32960	0.978000	0.69477	6.141000	0.71744	2.075000	0.62263	0.528000	0.53228	TTC		0.448	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			C	87728796	T	C	87728796	3	2	43	1	0	0	0	0	1	0	0	0	12782	1725	60	2	7018	2	PTPN13	4	87728796	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1970578	87728796	103425480	226	3403											
ADH1C	126	broad.mit.edu	37	chr4	100268909	100268909	+	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	aaaagtatttcaccttaatgCgaacttcatgagccttagga	14	12	7	8	1	2	1	2	1	0	0	2	3	2	2	2	1	3	1	2	1	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:100268909C>T	ENST00000510055.1	-	0	287				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)	CACCTTAATGCGAACTTCATG	0.333																																						.											0													67	64	65					4																	100268909		2203	4300	6503			126			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.100268909C>T			Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																					0.333	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		T	100268909	C	T	100268909	1	4	43	0	1	0	0	0	0	0	0	0	309	768	27	1		1	ADH1C	4	100268909	RNA	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12540113	100268909	90885367	227	3404											
EMCN	51705	ucsc.edu;mdanderson.org	37	chr4	101386644	101386644	+	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	gtaacacttgttactgttacGtttgaaatgatggagtcatt	11	16	9	5	1	1	2	1	2	0	0	1	3	1	3	0	1	3	4	0	1	4	6	rs115243972	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:101386644G>A	ENST00000296420.4	-	4	490	c.312C>T	c.(310-312)aaC>aaT	p.N104N	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Silent_p.N104N|EMCN_ENST00000305864.3_Silent_p.N104N	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	104	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTACTGTTACGTTTGAAATGA	0.368													G|||	25	0.00499201	0.0166	0.0029	5008	,	,		18716	0		0	False		,,,				2504	0.001					.											0								G	,	101,4305	80.9+/-119.3	2,97,2104	191	168	176		312,312	-7.9	0	4	dbSNP_132	176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	EMCN	NM_001159694.1,NM_016242.3	,	2,99,6402	AA,AG,GG		0.0233,2.2923,0.7919	,	104/249,104/262	101386644	103,12903	2203	4300	6503	SO:0001819	synonymous_variant	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.312C>T	4.37:g.101386644G>A			A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Silent	SNP	ENST00000296420.4	37	CCDS3655.1																																																																																				0.368	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		A	101386644	G	A	101386644	2	1	43	1	0	0	0	0	0	0	0	1	5086	1136	40	1		1	EMCN	4	101386644	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1117735	101386644	89767632	228	3405											
SYNPO2	171024	hgsc.bcm.edu;ucsc.edu	37	chr4	119951253	119951253	+	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	gtagcatttcttggtgcaagCgaatcagaggtggatgaaga	12	10	14	5	1	2	3	1	1	1	2	2	5	2	4	0	3	3	3	0	3	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:119951253C>T	ENST00000429713.2	+	4	1505	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	SYNPO2_ENST00000307142.4_Silent_p.S441S|SYNPO2_ENST00000434046.2_Silent_p.S441S|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	441						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGGTGCAAGCGAATCAGAGG	0.483																																						.											0													194	187	189					4																	119951253		2203	4300	6503	SO:0001819	synonymous_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1323C>T	4.37:g.119951253C>T			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	1.222	-0.626610	0.03610	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.69	-1.15	0.09709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.3512	12.9267	0.58264	0.0:0.3209:0.0:0.6791	.	.	.	.	X	393	.	.	R	+	1	2	SYNPO2	120170701	0.011000	0.17503	0.197000	0.23402	0.042000	0.13812	-0.893000	0.04127	-0.674000	0.05253	-0.244000	0.11960	CGA		0.483	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			T	119951253	C	T	119951253	2	4	43	1	0	0	0	0	0	0	0	1	15454	767	27	1		1	SYNPO2	4	119951253	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	18564609	119951253	71203023	229	3406											
FAT4	79633	broad.mit.edu	37	chr4	126389786	126389786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaatttgccacgattaaaAgtcatgccttattgctttac	12	15	5	9	1	2	0	2	0	0	0	2	1	2	0	2	0	4	1	2	0	5	6	rs183593425		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:126389786A>G	ENST00000394329.3	+	11	12032	c.12019A>G	c.(12019-12021)Agt>Ggt	p.S4007G	FAT4_ENST00000335110.5_Missense_Mutation_p.S2270G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4007	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						CACGATTAAAAGTCATGCCTT	0.388													A|||	1	0.000199681	0	0	5008	,	,		15216	0.001		0	False		,,,				2504	0					.											0													78	77	77					4																	126389786		2203	4300	6503	SO:0001583	missense	79633			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.12019A>G	4.37:g.126389786A>G	ENSP00000377862:p.Ser4007Gly		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	15.46	2.840879	0.51057	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78707	-1.2;-1.2	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.176916	0.26262	U	0.025385	T	0.78181	0.4243	L	0.51914	1.62	0.37495	D	0.916531	B;B;B	0.29835	0.135;0.258;0.218	B;B;B	0.39738	0.082;0.308;0.082	T	0.80899	-0.1176	10	0.56958	D	0.05	.	15.0081	0.71527	1.0:0.0:0.0:0.0	.	2270;4007;4007	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	G	4007;2270	ENSP00000377862:S4007G;ENSP00000335169:S2270G	ENSP00000335169:S2270G	S	+	1	0	FAT4	126609236	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.922000	0.56462	1.943000	0.56356	0.473000	0.43528	AGT		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126389786	A	G	126389786	3	3	43	1	0	0	0	0	1	0	0	0	5692	72	3	2	12061	2	FAT4	4	126389786	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	6438533	126389786	64764490	230	3407											
UCP1	7350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	141481158	141481158	+	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	ccaagtcgcaagaaggaaggTaccaacctagaaaagtgcat	17	5	10	9	1	0	2	0	0	0	2	1	3	0	3	3	2	3	3	3	2	9	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:141481158T>C	ENST00000262999.3	-	6	891	c.816A>G	c.(814-816)gtA>gtG	p.V272V		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	272					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)					AGAAGGAAGGTACCAACCTAG	0.413																																						.											0													161	125	137					4																	141481158		2203	4300	6503	SO:0001819	synonymous_variant	7350			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.816A>G	4.37:g.141481158T>C			Q13218|Q4KMZ3|Q68G66	Silent	SNP	ENST00000262999.3	37	CCDS3753.1																																																																																				0.413	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			C	141481158	T	C	141481158	2	2	43	1	0	0	0	0	0	0	0	1	16927	1625	57	2		2	UCP1	4	141481158	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	15091372	141481158	49673118	231	3408											
DCHS2	54798	broad.mit.edu	37	chr4	155163876	155163876	+	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	acctgtaccttgattacagtCgtattagaaagcctgggcat	11	12	9	9	1	0	2	0	1	0	1	1	2	0	2	3	1	3	3	3	1	5	5	rs558078073		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155163876C>T	ENST00000357232.4	-	22	5624	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1875	Cadherin 16. {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)		TGATTACAGTCGTATTAGAAA	0.408																																						.											0													132	123	126					4																	155163876		2203	4300	6503	SO:0001819	synonymous_variant	54798			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		ENST00000357232.4:c.5625G>A	4.37:g.155163876C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155163876	C	T	155163876	2	4	43	1	0	0	0	0	0	0	0	1	4288	871	31	1		1	DCHS2	4	155163876	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	13682718	155163876	35990400	232	3409											
DCHS2	54798	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	155254036	155254036	+	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	cgctgggggccaagtgggtgCgcctgtgtttgcagcatttg	4	11	17	9	2	0	0	0	0	0	0	0	0	0	0	2	3	3	4	2	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155254036C>T	ENST00000357232.4	-	9	1826	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	DCHS2_ENST00000339452.1_Silent_p.A1108A|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	609	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(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)		CAAGTGGGTGCGCCTGTGTTT	0.552																																						.											0													67	66	66					4																	155254036		2203	4300	6503	SO:0001819	synonymous_variant	54798			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		ENST00000357232.4:c.1827G>A	4.37:g.155254036C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.552	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155254036	C	T	155254036	2	4	43	1	0	0	0	0	0	0	0	1	4288	755	27	1		1	DCHS2	4	155254036	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	90160	155254036	35900240	233	3410											
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr4	155254288	155254288	+	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	gctctgtcgatggcaaagacGcctggctgcgggctggcgat	6	8	16	11	4	1	1	0	0	1	1	2	3	1	1	1	4	1	4	1	4	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155254288G>A	ENST00000357232.4	-	9	1574	c.1575C>T	c.(1573-1575)ggC>ggT	p.G525G	DCHS2_ENST00000339452.1_Silent_p.G1024G|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	525	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|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)		TGGCAAAGACGCCTGGCTGCG	0.682																																						.											0													28	31	30					4																	155254288		2203	4300	6503	SO:0001819	synonymous_variant	54798			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		ENST00000357232.4:c.1575C>T	4.37:g.155254288G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.682	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155254288	G	A	155254288	2	1	43	1	0	0	0	0	0	0	0	1	4288	1074	38	1		1	DCHS2	4	155254288	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	252	155254288	35899988	234	3411											
FGB	2244	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	155487066	155487066	+	Missense_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	tggaggtggctatcgggctcGtccagccaaagcagctgcca	8	7	14	12	2	0	0	0	0	0	0	3	1	1	1	3	4	4	4	3	4	2	1	rs571624045		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155487066G>A	ENST00000302068.4	+	2	284	c.221G>A	c.(220-222)cGt>cAt	p.R74H	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	74			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.|R -> C (in Nijmegen). {ECO:0000269|PubMed:1565641}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATCGGGCTCGTCCAGCCAAA	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		14457	0		0	False		,,,				2504	0				NSCLC(106;1133 1613 21870 46110 52656)	.											0													33	36	35					4																	155487066		2202	4298	6500	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.221G>A	4.37:g.155487066G>A	ENSP00000306099:p.Arg74His		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420758	0.83559	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	T	0.69561	-0.41	5.21	5.21	0.72293	.	0.048577	0.85682	D	0.000000	T	0.80839	0.4700	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.82608	-0.0373	10	0.87932	D	0	.	19.1257	0.93382	0.0:0.0:1.0:0.0	.	74	P02675	FIBB_HUMAN	H	74;57	ENSP00000306099:R74H	ENSP00000306099:R74H	R	+	2	0	FGB	155706516	1.000000	0.71417	0.998000	0.56505	0.596000	0.36781	6.249000	0.72427	2.597000	0.87782	0.591000	0.81541	CGT		0.587	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		A	155487066	G	A	155487066	3	1	43	1	0	0	0	0	1	0	0	0	5831	1145	40	1	227	1	FGB	4	155487066	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	232778	155487066	35667210	235	3412											
FGB	2244	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	155487081	155487081	+	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	ggctcgtccagccaaagcagCtgccactcaaaagaaagtag	14	5	10	12	1	1	1	1	0	0	1	3	1	2	1	3	1	4	4	3	1	5	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155487081C>T	ENST00000302068.4	+	2	299	c.236C>T	c.(235-237)gCt>gTt	p.A79V	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	79			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCCAAAGCAGCTGCCACTCAA	0.577																																					NSCLC(106;1133 1613 21870 46110 52656)	.											0													37	39	38					4																	155487081		2198	4292	6490	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.236C>T	4.37:g.155487081C>T	ENSP00000306099:p.Ala79Val		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127748	0.06753	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	T	0.60171	0.21	5.21	-3.56	0.04626	.	1.841320	0.02642	N	0.105473	T	0.36963	0.0986	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08806	-1.0704	10	0.23891	T	0.37	.	4.9716	0.14119	0.396:0.2565:0.0:0.3475	.	79	P02675	FIBB_HUMAN	V	79;62	ENSP00000306099:A79V	ENSP00000306099:A79V	A	+	2	0	FGB	155706531	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-2.289000	0.01149	-1.135000	0.02895	-0.230000	0.12252	GCT		0.577	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		T	155487081	C	T	155487081	3	4	43	1	0	0	0	0	1	0	0	0	5831	797	28	4	242	4	FGB	4	155487081	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	15	155487081	35667195	236	3413											
FAM198B	51313	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	159076877	159076877	+	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	cagcatttctgtttcagcaaCtgctgataagttccccaggt	9	13	8	11	0	2	1	1	1	1	0	3	1	3	1	2	1	4	5	2	1	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:159076877C>T	ENST00000296530.8	-	3	1632	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	FAM198B_ENST00000585682.1_Silent_p.Q337Q|FAM198B_ENST00000393807.5_Silent_p.Q345Q|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	337						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						GTTTCAGCAACTGCTGATAAG	0.473																																						.											0													106	92	96					4																	159076877		2203	4299	6502	SO:0001819	synonymous_variant	51313				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.1011G>A	4.37:g.159076877C>T			Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																				0.473	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		T	159076877	C	T	159076877	2	4	43	1	0	0	0	0	0	0	0	1	5529	564	20	4		4	FAM198B	4	159076877	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3589796	159076877	32077399	237	3414											
GALNT7	51809	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	174169387	174169387	+	Missense_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	ctaccatgatcctgtgcttcGcccagggatcctcggtaact	7	11	9	14	2	0	1	0	1	0	0	4	2	2	2	4	2	3	2	4	2	2	3	rs201773910	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:174169387G>A	ENST00000265000.4	+	2	466	c.383G>A	c.(382-384)cGc>cAc	p.R128H	GALNT7_ENST00000512285.1_Missense_Mutation_p.R128H	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	128					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)		CCTGTGCTTCGCCCAGGGATC	0.512													G|||	2	0.000399361	8e-04	0	5008	,	,		18950	0		0	False		,,,				2504	0.001					.											0													83	82	83					4																	174169387		2203	4300	6503	SO:0001583	missense	51809			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.383G>A	4.37:g.174169387G>A	ENSP00000265000:p.Arg128His		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.60	1.687301	0.29962	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.57107	0.42;1.46	5.93	4.21	0.49690	.	0.898146	0.09841	N	0.748891	T	0.49795	0.1578	L	0.52573	1.65	0.48632	D	0.999687	B	0.11235	0.004	B	0.04013	0.001	T	0.45848	-0.9233	10	0.72032	D	0.01	.	12.1843	0.54229	0.1364:0.0:0.8636:0.0	.	128	Q86SF2	GALT7_HUMAN	H	128	ENSP00000265000:R128H;ENSP00000427050:R128H	ENSP00000265000:R128H	R	+	2	0	GALNT7	174405962	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	3.260000	0.51523	1.533000	0.49186	-0.140000	0.14226	CGC		0.512	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		A	174169387	G	A	174169387	3	1	43	1	0	0	0	0	1	0	0	0	6218	1087	38	1	389	1	GALNT7	4	174169387	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	15092510	174169387	16984889	238	3415											
HMGB2	3148	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	174254650	174254650	+	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	tccgtccctctcctgcctcaCcttccatctctccgaacact	5	12	3	21	2	3	0	1	0	2	0	9	1	7	0	7	0	2	0	7	0	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:174254650C>T	ENST00000296503.5	-	2	1024		c.e2+1		HMGB2_ENST00000438704.2_Splice_Site|HMGB2_ENST00000446922.2_Splice_Site			P26583	HMGB2_HUMAN	high mobility group box 2						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		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;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TCCTGCCTCACCTTCCATCTC	0.552																																						.											0													95	96	95					4																	174254650		2203	4300	6503	SO:0001630	splice_region_variant	3148				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.150+1G>A	4.37:g.174254650C>T			B2R4K8|D3DP37|Q5U072	Splice_Site	SNP	ENST00000296503.5	37	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027733	0.54790	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.232	0.82352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGB2	174491225	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	7.456000	0.80751	1.907000	0.55213	0.313000	0.20887	.		0.552	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688	Intron	T	174254650	C	T	174254650	5	4	43	1	0	0	0	0	0	0	1	0	7226	521	18	3	494	3	HMGB2	4	174254650	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	85263	174254650	16899626	239	3416											
SNX25	83891	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	186185677	186185677	+	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	gatttctacaaacgtgttctCgggttctggtgttttgtctc	5	18	10	8	2	4	0	0	0	4	0	6	1	4	0	0	2	2	3	0	2	2	6	rs140041413	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:186185677C>T	ENST00000504273.1	+	4	619	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	SNX25_ENST00000264694.8_Missense_Mutation_p.R109W			Q9H3E2	SNX25_HUMAN	sorting nexin 25	109	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				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)		AACGTGTTCTCGGGTTCTGGT	0.413																																						.											0								C	TRP/ARG	0,4406		0,0,2203	175	162	166		325	4.2	1	4	dbSNP_134	166	3,8591	3.0+/-9.4	0,3,4294	no	missense	SNX25	NM_031953.2	101	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	109/841	186185677	3,12997	2203	4297	6500	SO:0001583	missense	83891			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.325C>T	4.37:g.186185677C>T	ENSP00000426255:p.Arg109Trp		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169225	0.78339	0.0	3.49E-4	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.10763	2.84;2.84	5.04	4.17	0.49024	Phox-associated domain (2);	0.213930	0.38897	N	0.001529	T	0.17577	0.0422	L	0.36672	1.1	0.35902	D	0.830485	D	0.65815	0.995	P	0.54210	0.745	T	0.14227	-1.0480	10	0.87932	D	0	-4.6564	14.7072	0.69200	0.1461:0.8539:0.0:0.0	.	109	Q9H3E2	SNX25_HUMAN	W	109	ENSP00000426255:R109W;ENSP00000264694:R109W	ENSP00000264694:R109W	R	+	1	2	SNX25	186422671	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.564000	0.53791	1.306000	0.44926	0.491000	0.48974	CGG		0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		T	186185677	C	T	186185677	3	4	43	1	0	0	0	0	1	0	0	0	14896	875	31	1	335	1	SNX25	4	186185677	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11931027	186185677	4968599	240	3417											
F11	2160	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	187209727	187209727	+	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	gtgtttacaccaacgtggtcGagtacgtggactggattctg	8	12	13	8	3	1	0	0	0	1	0	2	3	1	2	1	3	3	2	1	3	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:187209727G>A	ENST00000403665.2	+	15	2189	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	F11_ENST00000264692.4_Missense_Mutation_p.E561K|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	613	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAACGTGGTCGAGTACGTGGA	0.567																																						.											0													120	116	117					4																	187209727		2203	4300	6503	SO:0001583	missense	2160			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1837G>A	4.37:g.187209727G>A	ENSP00000384957:p.Glu613Lys		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629525	0.46944	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.88201	-2.35;-2.35	5.49	2.56	0.30785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.144296	0.47455	N	0.000230	T	0.64702	0.2622	N	0.00788	-1.185	0.30559	N	0.764699	B	0.23377	0.084	B	0.17098	0.017	T	0.59611	-0.7422	10	0.17369	T	0.5	.	7.4289	0.27115	0.3207:0.0:0.6793:0.0	.	613	P03951	FA11_HUMAN	K	613;561	ENSP00000384957:E613K;ENSP00000264692:E561K	ENSP00000264692:E561K	E	+	1	0	F11	187446721	0.220000	0.23631	0.395000	0.26283	0.974000	0.67602	0.649000	0.24843	0.262000	0.21774	0.555000	0.69702	GAG		0.567	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			A	187209727	G	A	187209727	3	1	43	1	0	0	0	0	1	0	0	0	5337	1059	37	1	1891	1	F11	4	187209727	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1024050	187209727	3944549	241	3418											
FAT1	2195	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	187629557	187629557	+	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	acagtagtaccaatgggcacGttctcatcaaaagcagcttt	13	10	8	10	1	2	0	2	0	1	0	3	0	2	0	1	1	3	6	1	1	5	4	rs202036099		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:187629557G>A	ENST00000441802.2	-	2	1634	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	475	Cadherin 4. {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						CAATGGGCACGTTCTCATCAA	0.473										HNSCC(5;0.00058)			g|||	1	0.000199681	0	0.0014	5008	,	,		20713	0		0	False		,,,				2504	0				Colon(197;1040 2055 4143 4984 49344)	.											0													160	155	157					4																	187629557		2024	4187	6211	SO:0001819	synonymous_variant	2195			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.1425C>T	4.37:g.187629557G>A				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187629557	G	A	187629557	2	1	43	1	0	0	0	0	0	0	0	1	5689	1136	40	1		1	FAT1	4	187629557	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	419830	187629557	3524719	242	3419											
FRG1	2483	mdanderson.org	37	chr4	190876227	190876227	+	Missense_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	tggctatggaaaatatcttgGtataaattcagatggacttg	13	14	10	4	0	2	1	1	0	1	1	2	3	2	3	0	4	0	2	0	4	7	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:190876227G>A	ENST00000226798.4	+	5	575	c.353G>A	c.(352-354)gGt>gAt	p.G118D	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	118					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAATATCTTGGTATAAATTCA	0.343																																						.											0													63	63	63					4																	190876227		2203	4300	6503	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.353G>A	4.37:g.190876227G>A	ENSP00000226798:p.Gly118Asp		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.443643	0.83993	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.50548	1.91;0.74	4.04	4.04	0.47022	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.77016	-0.2744	10	0.72032	D	0.01	-10.9283	14.145	0.65344	0.0:0.0:1.0:0.0	.	118	Q14331	FRG1_HUMAN	D	118;55	ENSP00000226798:G118D;ENSP00000435943:G55D	ENSP00000226798:G118D	G	+	2	0	FRG1	191113221	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.218000	0.95166	1.964000	0.57103	0.567000	0.79289	GGT		0.343	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190876227	G	A	190876227	3	1	43	1	0	0	0	0	1	0	0	0	6046	1261	44	3	371	3	FRG1	4	190876227	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3246670	190876227	278049	243	3420											
C5orf55	116349	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	442635	442635	+	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	cattcattctccaagacctgCgctgctgggcctctgagggg	6	10	12	13	1	3	2	1	1	2	1	4	2	3	2	3	3	2	2	3	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:442635C>T	ENST00000408966.2	-	1	623	c.303G>A	c.(301-303)gcG>gcA	p.A101A	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	101						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CCAAGACCTGCGCTGCTGGGC	0.657																																						.											0													50	55	53					5																	442635		1883	4111	5994	SO:0001819	synonymous_variant	116349			BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.303G>A	5.37:g.442635C>T			Q96CR9	Silent	SNP	ENST00000408966.2	37	CCDS43298.1																																																																																				0.657	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		T	442635	C	T	442635	2	4	43	1	0	0	0	0	0	0	0	1	2311	755	27	1		1	C5orf55	5	442635	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10		442635	180472625	244	3421											
TERT	7015	broad.mit.edu	37	chr5	1293799	1293799	+	Missense_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	gcaccccgtaggggcactgcGcgtggttcccaagcagctcc	6	6	13	16	3	0	0	0	0	0	0	2	0	2	0	4	3	3	6	4	3	2	2	rs539667998		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:1293799G>A	ENST00000310581.5	-	2	1259	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000296820.5_Missense_Mutation_p.A401V|TERT_ENST00000334602.6_Missense_Mutation_p.A401V|TERT_ENST00000508104.2_Missense_Mutation_p.A401V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	401	CP motif.|QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGGGCACTGCGCGTGGTTCCC	0.697									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				G|||	1	0.000199681	0	0	5008	,	,		15406	0.001		0	False		,,,				2504	0					.											0													12	14	13					5																	1293799		2165	4273	6438	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1202C>T	5.37:g.1293799G>A	ENSP00000309572:p.Ala401Val		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547628	0.45383	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96885	-4.16;-4.13;-4.07;-4.13	4.38	1.41	0.22369	.	0.457119	0.24980	N	0.034069	D	0.95655	0.8587	M	0.71581	2.175	0.09310	N	1	B;D;B	0.76494	0.213;0.999;0.136	B;P;B	0.59012	0.034;0.85;0.015	D	0.88240	0.2909	10	0.30854	T	0.27	-30.7517	1.6145	0.02701	0.1842:0.2005:0.4091:0.2062	.	401;401;401	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	V	401	ENSP00000309572:A401V;ENSP00000296820:A401V;ENSP00000334346:A401V;ENSP00000426042:A401V	ENSP00000296820:A401V	A	-	2	0	TERT	1346799	0.000000	0.05858	0.506000	0.27664	0.801000	0.45260	0.165000	0.16564	0.305000	0.22832	0.549000	0.68633	GCG		0.697	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			A	1293799	G	A	1293799	3	1	43	1	0	0	0	0	1	0	0	0	15761	1087	38	1	2256	1	TERT	5	1293799	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	851164	1293799	179621461	245	3422											
ADAMTS16	170690	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	5239898	5239898	+	Missense_Mutation	SNP	T	T	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	tgcgcaatgccctcagaaggTactacctgaatgggcactgg	10	8	12	11	1	1	2	1	1	0	1	1	2	1	2	2	3	4	3	2	3	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:5239898T>C	ENST00000274181.7	+	16	2521	c.2383T>C	c.(2383-2385)Tac>Cac	p.Y795H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	795	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCTCAGAAGGTACTACCTGAA	0.512																																						.											0													118	112	114					5																	5239898		1895	4112	6007	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2383T>C	5.37:g.5239898T>C	ENSP00000274181:p.Tyr795His		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.924234	0.73213	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.57107	0.42	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	T	0.77356	0.4118	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.983	T	0.82293	-0.0529	10	0.66056	D	0.02	.	14.6848	0.69042	0.0:0.0:0.0:1.0	.	795;795	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	795	ENSP00000274181:Y795H	ENSP00000274181:Y795H	Y	+	1	0	ADAMTS16	5292898	1.000000	0.71417	0.910000	0.35882	0.429000	0.31625	7.310000	0.78947	2.113000	0.64589	0.533000	0.62120	TAC		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		C	5239898	T	C	5239898	3	2	43	1	0	0	0	0	1	0	0	0	261	1638	57	2	2445	2	ADAMTS16	5	5239898	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3946099	5239898	175675362	246	3423											
RAI14	26064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	34821933	34821933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccttaccttacacaataAggagttacaagataaattac	16	12	4	9	0	0	1	0	0	0	1	1	2	1	2	2	1	4	1	2	1	9	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:34821933A>G	ENST00000265109.3	+	14	1378	c.1091A>G	c.(1090-1092)aAg>aGg	p.K364R	RAI14_ENST00000503673.1_Missense_Mutation_p.K364R|RAI14_ENST00000512629.1_Missense_Mutation_p.K335R|RAI14_ENST00000515799.1_Missense_Mutation_p.K367R|RAI14_ENST00000506376.1_Missense_Mutation_p.K356R|RAI14_ENST00000397449.1_Missense_Mutation_p.K357R|RAI14_ENST00000428746.2_Missense_Mutation_p.K364R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	364						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)					TTACACAATAAGGAGTTACAA	0.358																																						.											0													85	83	84					5																	34821933		2203	4299	6502	SO:0001583	missense	26064			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.1091A>G	5.37:g.34821933A>G	ENSP00000265109:p.Lys364Arg		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351867	0.82132	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.2;1.19	5.81	5.81	0.92471	.	.	.	.	.	T	0.50599	0.1625	L	0.34521	1.04	0.45194	D	0.998203	D;D;D;D	0.89917	0.998;0.997;1.0;0.997	D;D;D;D	0.87578	0.994;0.985;0.998;0.985	T	0.51387	-0.8712	9	0.59425	D	0.04	-25.6914	16.1677	0.81782	1.0:0.0:0.0:0.0	.	356;335;367;364	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	364;335;364;364;367;356;357	ENSP00000265109:K364R;ENSP00000422377:K335R;ENSP00000388725:K364R;ENSP00000422942:K364R;ENSP00000427123:K367R;ENSP00000423854:K356R;ENSP00000380591:K357R	ENSP00000265109:K364R	K	+	2	0	RAI14	34857690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.881000	0.75584	2.218000	0.71995	0.528000	0.53228	AAG		0.358	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		G	34821933	A	G	34821933	3	3	43	1	0	0	0	0	1	0	0	0	13008	72	3	2	1206	2	RAI14	5	34821933	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	29582035	34821933	146093327	247	3424											
NIPBL	25836	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	37000622	37000622	+	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	tcgttatcgaaaccgaagtcCgtcagattctgacatggaag	12	10	10	9	4	2	2	1	1	1	1	5	5	3	3	2	1	1	1	2	1	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:37000622C>T	ENST00000282516.8	+	12	3951	c.3452C>T	c.(3451-3453)cCg>cTg	p.P1151L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1151L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1151					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)			AACCGAAGTCCGTCAGATTCT	0.448																																						.											0													162	155	157					5																	37000622		2203	4300	6503	SO:0001583	missense	25836			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.3452C>T	5.37:g.37000622C>T	ENSP00000282516:p.Pro1151Leu		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271463	0.80469	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93488	-3.23;-3.23	5.81	5.81	0.92471	.	0.093959	0.47852	D	0.000220	D	0.88306	0.6401	N	0.24115	0.695	0.58432	D	0.999997	P;P	0.43287	0.524;0.802	B;B	0.34180	0.043;0.177	D	0.89300	0.3625	10	0.59425	D	0.04	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	1151;1151	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	L	1151	ENSP00000282516:P1151L;ENSP00000406266:P1151L	ENSP00000282516:P1151L	P	+	2	0	NIPBL	37036379	0.999000	0.42202	0.992000	0.48379	0.957000	0.61999	4.629000	0.61290	2.759000	0.94783	0.591000	0.81541	CCG		0.448	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		T	37000622	C	T	37000622	3	4	43	1	0	0	0	0	1	0	0	0	10428	652	23	1	3494	1	NIPBL	5	37000622	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2178689	37000622	143914638	248	3425											
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	37036493	37036493	+	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	atatatagttgttgaagtccGaagaggattcctcatataaa	15	13	8	5	1	1	2	1	1	0	1	3	4	3	3	2	1	0	2	2	1	8	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:37036493G>A	ENST00000282516.8	+	33	6374	c.5875G>A	c.(5875-5877)Gaa>Aaa	p.E1959K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1959K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1959					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)			GTTGAAGTCCGAAGAGGATTC	0.279																																						.											0													17	16	16					5																	37036493		2166	4195	6361	SO:0001583	missense	25836			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.5875G>A	5.37:g.37036493G>A	ENSP00000282516:p.Glu1959Lys		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629682	0.67015	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.64260	-0.09;-0.09	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	N	0.03930	-0.32	0.80722	D	1	B;B	0.27416	0.112;0.178	B;B	0.32211	0.046;0.142	T	0.43702	-0.9375	10	0.02654	T	1	-16.5384	19.5724	0.95427	0.0:0.0:1.0:0.0	.	1959;1959	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	K	1959	ENSP00000282516:E1959K;ENSP00000406266:E1959K	ENSP00000282516:E1959K	E	+	1	0	NIPBL	37072250	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.438000	0.97539	2.624000	0.88883	0.650000	0.86243	GAA		0.279	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		A	37036493	G	A	37036493	3	1	43	1	0	0	0	0	1	0	0	0	10428	1059	37	1	6001	1	NIPBL	5	37036493	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	35871	37036493	143878767	249	3426											
LIFR	3977	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	38510729	38510729	+	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	ccaatcagtgctgataacacTttttcttgactcacacaaca	13	12	4	12	0	3	2	2	2	1	0	3	2	3	2	1	0	3	1	1	0	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:38510729T>C	ENST00000263409.4	-	7	990	c.828A>G	c.(826-828)aaA>aaG	p.K276K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.K276K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	276					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGATAACACTTTTTCTTGAC	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	.		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106	93	97					5																	38510729		2203	4300	6503	SO:0001819	synonymous_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.828A>G	5.37:g.38510729T>C			Q6LCD9	Silent	SNP	ENST00000263409.4	37	CCDS3927.1																																																																																				0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		C	38510729	T	C	38510729	2	2	43	1	0	0	0	0	0	0	0	1	8780	1606	56	2		2	LIFR	5	38510729	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1474236	38510729	142404531	250	3427											
DAB2	1601	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	39377146	39377146	+	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	cttgttgttgaccaagcattGggtgccacagatgcagaagg	10	10	13	8	0	0	3	0	1	0	2	0	3	0	3	2	2	3	4	2	2	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:39377146G>T	ENST00000320816.6	-	12	2210	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P	DAB2_ENST00000339788.6_Silent_p.P363P|DAB2_ENST00000545653.1_Silent_p.P560P|DAB2_ENST00000509337.1_Silent_p.P560P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	581					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)			ACCAAGCATTGGGTGCCACAG	0.547											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													76	86	82					5																	39377146		2203	4300	6503	SO:0001819	synonymous_variant	1601			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.1743C>A	5.37:g.39377146G>T		885	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.547	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		T	39377146	G	T	39377146	2	4	43	1	0	0	0	0	0	0	0	1	4218	1335	47	5		5	DAB2	5	39377146	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	866417	39377146	141538114	251	3428											
PTGER4	5734	hgsc.bcm.edu;mdanderson.org	37	chr5	40681716	40681716	+	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	ctctgcaacgtgcttgtgtgCggcgcgctgctccgcatgca	4	10	13	14	5	1	0	0	0	1	0	2	0	2	0	1	1	6	6	1	1	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:40681716C>T	ENST00000302472.3	+	2	1645	c.621C>T	c.(619-621)tgC>tgT	p.C207C	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	207					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGCTTGTGTGCGGCGCGCTGC	0.701																																						.											0													24	21	22					5																	40681716		2202	4295	6497	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.621C>T	5.37:g.40681716C>T			Q3MJ87	Silent	SNP	ENST00000302472.3	37	CCDS3930.1																																																																																				0.701	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		T	40681716	C	T	40681716	2	4	43	1	0	0	0	0	0	0	0	1	12745	776	27	1		1	PTGER4	5	40681716	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1304570	40681716	140233544	252	3429											
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr5	43613077	43613077	+	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	caaaatgagaagcgagtggcAttgtctcctgctggtgttca	10	11	12	8	1	2	1	1	1	1	1	3	3	2	1	1	2	2	3	1	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:43613077A>G	ENST00000264663.5	+	3	440	c.219A>G	c.(217-219)gcA>gcG	p.A73A	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.A73A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	73					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)					AGCGAGTGGCATTGTCTCCTG	0.423																																						.											0													155	158	157					5																	43613077		2203	4300	6503	SO:0001819	synonymous_variant	23530			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.219A>G	5.37:g.43613077A>G			Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		G	43613077	A	G	43613077	2	3	43	1	0	0	0	0	0	0	0	1	10510	204	8	4		4	NNT	5	43613077	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2931361	43613077	137302183	253	3430											
MRPS30	10884	mdanderson.org	37	chr5	44811198	44811198	+	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	aggtcgaattgatgacttgcGataccagatagatgataaac	15	10	10	6	2	0	5	0	3	0	2	1	7	0	5	1	1	3	0	1	1	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:44811198G>A	ENST00000507110.1	+	2	727	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	230					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GATGACTTGCGATACCAGATA	0.383																																						.											0													137	135	136					5																	44811198		2203	4300	6503	SO:0001583	missense	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.689G>A	5.37:g.44811198G>A	ENSP00000424328:p.Arg230Gln		Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080982	0.94050	.	.	ENSG00000112996	ENST00000507110	T	0.19669	2.13	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.48519	0.1504	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.37056	-0.9722	10	0.27785	T	0.31	-2.816	18.9329	0.92574	0.0:0.0:1.0:0.0	.	230	Q9NP92	RT30_HUMAN	Q	230	ENSP00000424328:R230Q	ENSP00000424328:R230Q	R	+	2	0	MRPS30	44846955	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	8.419000	0.90253	2.631000	0.89168	0.655000	0.94253	CGA		0.383	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		A	44811198	G	A	44811198	3	1	43	1	0	0	0	0	1	0	0	0	9840	1058	37	1	695	1	MRPS30	5	44811198	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1198121	44811198	136104062	254	3431											
MRPS30	10884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	44812095	44812095	+	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	acaaacttccattattcaaaCggcagtatgaaaaccacata	18	9	4	10	1	1	1	1	1	0	0	2	1	2	1	2	1	3	2	2	1	7	5	rs61753790		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:44812095C>T	ENST00000507110.1	+	3	864	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	276					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					ATTATTCAAACGGCAGTATGA	0.323																																						.											0													91	90	90					5																	44812095		2203	4299	6502	SO:0001583	missense	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.826C>T	5.37:g.44812095C>T	ENSP00000424328:p.Arg276Trp		Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834500	0.50951	.	.	ENSG00000112996	ENST00000507110	T	0.19250	2.16	5.81	4.93	0.64822	.	0.106321	0.64402	D	0.000009	T	0.45175	0.1329	M	0.77103	2.36	0.47094	D	0.999311	D	0.89917	1.0	D	0.87578	0.998	T	0.37619	-0.9698	10	0.28530	T	0.3	-0.2011	12.5333	0.56128	0.3696:0.6304:0.0:0.0	rs61753790	276	Q9NP92	RT30_HUMAN	W	276	ENSP00000424328:R276W	ENSP00000424328:R276W	R	+	1	2	MRPS30	44847852	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.829000	0.48128	1.432000	0.47375	-0.181000	0.13052	CGG		0.323	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		T	44812095	C	T	44812095	3	4	43	1	0	0	0	0	1	0	0	0	9840	527	19	1	836	1	MRPS30	5	44812095	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	897	44812095	136103165	255	3432											
ACTBL2	345651	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	56777945	56777945	+	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	tggtggtgaagttatagcctCgctctgtcaggatcttcatg	7	14	12	8	1	4	1	2	1	2	0	5	2	4	2	1	3	1	2	1	3	3	3	rs149395843	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:56777945C>T	ENST00000423391.1	-	1	691	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	197						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GTTATAGCCTCGCTCTGTCAG	0.532													C|||	19	0.00379393	0.0144	0	5008	,	,		22585	0		0	False		,,,				2504	0					.											0								C	GLN/ARG	41,4365	45.3+/-79.5	1,39,2163	101	82	88		590	3.9	0.9	5	dbSNP_134	88	0,8600		0,0,4300	yes	missense	ACTBL2	NM_001017992.2	43	1,39,6463	TT,TC,CC		0.0,0.9305,0.3152	probably-damaging	197/377	56777945	41,12965	2203	4300	6503	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.590G>A	5.37:g.56777945C>T	ENSP00000416706:p.Arg197Gln		B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.17	2.156197	0.38021	0.009305	0.0	ENSG00000169067	ENST00000423391	D	0.94576	-3.46	4.77	3.89	0.44902	.	0.094398	0.39083	N	0.001479	D	0.94142	0.8121	H	0.94771	3.58	0.39485	D	0.967951	B	0.27068	0.167	B	0.32211	0.142	D	0.93849	0.7143	10	0.87932	D	0	.	10.9769	0.47472	0.0:0.9077:0.0:0.0923	.	197	Q562R1	ACTBL_HUMAN	Q	197	ENSP00000416706:R197Q	ENSP00000416706:R197Q	R	-	2	0	ACTBL2	56813702	0.866000	0.29940	0.890000	0.34922	0.974000	0.67602	5.926000	0.70070	1.201000	0.43203	0.655000	0.94253	CGA		0.532	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		T	56777945	C	T	56777945	3	4	43	1	0	0	0	0	1	0	0	0	194	884	31	1	544	1	ACTBL2	5	56777945	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11965850	56777945	124137315	256	3433											
PIK3R1	5295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	67522808	67522808	+	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	tcctgttgcaccaggttcttCgaaaactgaagcagatgttg	10	12	10	9	1	1	2	0	1	1	1	3	3	2	2	2	1	3	5	2	1	3	4	rs368742778		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:67522808C>T	ENST00000521381.1	+	2	921	c.305C>T	c.(304-306)tCg>tTg	p.S102L	PIK3R1_ENST00000521657.1_Missense_Mutation_p.S102L|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S102L|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S102L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	102					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)		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)	CCAGGTTCTTCGAAAACTGAA	0.433			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												.		Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	1	Whole gene deletion(1)	large_intestine(1)						C	LEU/SER	0,4406		0,0,2203	49	59	55		305	5.8	0.9	5		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3R1	NM_181523.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	102/725	67522808	1,13005	2203	4300	6503	SO:0001583	missense	5295			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.305C>T	5.37:g.67522808C>T	ENSP00000428056:p.Ser102Leu		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475463	0.43942	0.0	1.16E-4	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335	T;T;T;T	0.69685	-0.42;-0.42;-0.3;-0.42	5.77	5.77	0.91146	.	0.462575	0.21847	N	0.068223	T	0.55924	0.1951	L	0.29908	0.895	0.33287	D	0.563063	B	0.13145	0.007	B	0.12837	0.008	T	0.58612	-0.7606	10	0.28530	T	0.3	-7.4193	15.789	0.78338	0.0:0.8646:0.1354:0.0	.	102	P27986	P85A_HUMAN	L	102	ENSP00000428056:S102L;ENSP00000429277:S102L;ENSP00000379855:S102L;ENSP00000274335:S102L	ENSP00000274335:S102L	S	+	2	0	PIK3R1	67558564	0.991000	0.36638	0.916000	0.36221	0.971000	0.66376	3.099000	0.50267	2.884000	0.98904	0.655000	0.94253	TCG		0.433	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67522808	C	T	67522808	3	4	43	1	0	0	0	0	1	0	0	0	11918	893	31	1	307	1	PIK3R1	5	67522808	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	10744863	67522808	113392452	257	3434											
PDE8B	8622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr5	76645327	76645327	+	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	ctcgctgatctgcccaaaagCgataagaaccgggcagacct	12	6	10	13	3	1	3	0	1	1	2	2	4	1	3	3	1	3	2	3	1	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:76645327C>T	ENST00000264917.5	+	8	1005	c.960C>T	c.(958-960)agC>agT	p.S320S	PDE8B_ENST00000333194.4_Silent_p.S320S|PDE8B_ENST00000342343.4_Silent_p.S300S|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	320	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TGCCCAAAAGCGATAAGAACC	0.502																																						.											0													133	114	121					5																	76645327		2203	4300	6503	SO:0001819	synonymous_variant	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.960C>T	5.37:g.76645327C>T			Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	CCDS4037.1																																																																																				0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		T	76645327	C	T	76645327	2	4	43	1	0	0	0	0	0	0	0	1	11654	767	27	1		1	PDE8B	5	76645327	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9122519	76645327	104269933	258	3435											
THBS4	7060	broad.mit.edu	37	chr5	79366537	79366537	+	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	ggcattggcgacgcttgtgaCgaggatgctgacggagatgg	8	8	18	7	4	0	3	0	2	0	1	0	7	0	4	0	5	1	3	0	5	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:79366537C>T	ENST00000350881.2	+	12	1714	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.D417D	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	508					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGCTTGTGACGAGGATGCTG	0.532																																						.											0													138	121	127					5																	79366537		2203	4300	6503	SO:0001819	synonymous_variant	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1524C>T	5.37:g.79366537C>T			B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.532	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			T	79366537	C	T	79366537	2	4	43	1	0	0	0	0	0	0	0	1	15853	535	19	1		1	THBS4	5	79366537	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2721210	79366537	101548723	259	3436											
ACOT12	134526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	80640001	80640001	+	Missense_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	gcctaggcgaattcgcttgcGtgcaatagctccccgatagc	8	9	11	13	4	0	0	0	0	0	0	2	2	1	0	3	1	4	3	3	1	5	5	rs149103852		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:80640001G>A	ENST00000307624.3	-	9	986	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	320					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATTCGCTTGCGTGCAATAGCT	0.358																																						.											0								G	CYS/ARG	0,4406		0,0,2203	68	70	70		958	5.4	1	5	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACOT12	NM_130767.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	320/556	80640001	1,13005	2203	4300	6503	SO:0001583	missense	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.958C>T	5.37:g.80640001G>A	ENSP00000303246:p.Arg320Cys		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543967	0.65198	0.0	1.16E-4	ENSG00000172497	ENST00000307624	T	0.38077	1.16	5.45	5.45	0.79879	.	0.124801	0.51477	D	0.000098	T	0.69178	0.3082	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76844	-0.2809	10	0.87932	D	0	-15.5955	16.5697	0.84608	0.0:0.0:1.0:0.0	.	320	Q8WYK0	ACO12_HUMAN	C	320	ENSP00000303246:R320C	ENSP00000303246:R320C	R	-	1	0	ACOT12	80675757	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	3.345000	0.52182	2.725000	0.93324	0.655000	0.94253	CGC		0.358	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		A	80640001	G	A	80640001	3	1	43	1	0	0	0	0	1	0	0	0	150	1145	40	1	737	1	ACOT12	5	80640001	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1273464	80640001	100275259	260	3437											
XRCC4	7518	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	82499423	82499423	+	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	tggagactgatctttataagCggtttattctggtgttgaat	9	17	11	4	1	2	3	0	2	2	1	2	4	2	3	0	3	1	2	0	3	4	7	rs140143447		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:82499423C>T	ENST00000511817.1	+	5	615	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Missense_Mutation_p.R179W|XRCC4_ENST00000282268.3_Missense_Mutation_p.R179W|XRCC4_ENST00000338635.6_Missense_Mutation_p.R179W			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.R179W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TCTTTATAAGCGGTTTATTCT	0.318								Non-homologous end-joining																														.											1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	89	97	94		535,535,535	4.9	0.1	5	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense	XRCC4	NM_003401.3,NM_022406.2,NM_022550.2	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	179/335,179/337,179/335	82499423	1,13005	2203	4300	6503	SO:0001583	missense	7518			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.535C>T	5.37:g.82499423C>T	ENSP00000421491:p.Arg179Trp		A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	ENST00000511817.1	37	CCDS4059.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409449	0.62399	2.27E-4	0.0	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.88	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	M	0.76328	2.33	0.34914	D	0.7478	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74077	-0.3781	10	0.87932	D	0	-12.6205	14.0478	0.64714	0.331:0.669:0.0:0.0	.	179;179;179	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	W	179	ENSP00000282268:R179W;ENSP00000342011:R179W;ENSP00000379344:R179W;ENSP00000421491:R179W	ENSP00000282268:R179W	R	+	1	2	XRCC4	82535179	0.789000	0.28775	0.134000	0.22075	0.967000	0.64934	1.155000	0.31700	1.263000	0.44181	0.555000	0.69702	CGG		0.318	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		T	82499423	C	T	82499423	3	4	43	1	0	0	0	0	1	0	0	0	17452	759	27	1	549	1	XRCC4	5	82499423	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1859422	82499423	98415837	261	3438											
TMEM161B	153396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	87494939	87494939	+	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	caggattattaaccagagtcGcagagtatcgaatgtggctt	12	11	11	7	2	0	2	0	0	0	2	2	4	0	3	1	2	1	3	1	2	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:87494939G>A	ENST00000296595.6	-	10	1067	c.943C>T	c.(943-945)Cga>Tga	p.R315*	TMEM161B_ENST00000514135.1_Nonsense_Mutation_p.R315*|TMEM161B_ENST00000515293.1_5'Flank|TMEM161B_ENST00000506536.1_Nonsense_Mutation_p.R133*|TMEM161B_ENST00000512429.1_Nonsense_Mutation_p.R304*|TMEM161B_ENST00000511218.1_Intron	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	315						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AACCAGAGTCGCAGAGTATCG	0.413																																						.											0													49	45	46					5																	87494939		2203	4299	6502	SO:0001587	stop_gained	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.943C>T	5.37:g.87494939G>A	ENSP00000296595:p.Arg315*		Q5CZH7|Q6UWQ6	Nonsense_Mutation	SNP	ENST00000296595.6	37	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	G	39	7.374376	0.98245	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000512429	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4847	14.9408	0.70992	0.0:0.0:0.8236:0.1764	.	.	.	.	X	315;315;133;304	.	ENSP00000296595:R315X	R	-	1	2	TMEM161B	87530695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.499000	0.66937	2.805000	0.96524	0.460000	0.39030	CGA		0.413	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		A	87494939	G	A	87494939	4	1	43	1	0	0	0	0	0	1	0	0	16074	1095	38	1	532	1	TMEM161B	5	87494939	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4995516	87494939	93420321	262	3439											
ANKRD32	84250	broad.mit.edu	37	chr5	94005883	94005883	+	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	cttttcaatgaaagcttttgTcatcaaatttcagaaaatat	15	16	4	6	0	4	2	4	1	0	1	4	2	4	2	0	0	1	1	0	0	6	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:94005883T>C	ENST00000265140.5	+	13	1979	c.1560T>C	c.(1558-1560)tgT>tgC	p.C520C		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	520						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)		AAAGCTTTTGTCATCAAATTT	0.323																																						.											0													83	70	74					5																	94005883		692	1589	2281	SO:0001819	synonymous_variant	84250			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.1560T>C	5.37:g.94005883T>C			B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	CCDS4071.2																																																																																				0.323	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		C	94005883	T	C	94005883	2	2	43	1	0	0	0	0	0	0	0	1	660	1673	58	2		2	ANKRD32	5	94005883	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	6510944	94005883	86909377	263	3440											
NUDT12	83594	mdanderson.org	37	chr5	102895830	102895830	+	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	cagccattttcagaagtttcAttgagaagagatggagaatg	14	11	11	5	0	2	4	2	1	0	4	2	7	2	4	1	1	1	1	1	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:102895830A>G	ENST00000230792.2	-	2	216	c.120T>C	c.(118-120)aaT>aaC	p.N40N	NUDT12_ENST00000507423.1_Silent_p.N40N	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	40					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)		CAGAAGTTTCATTGAGAAGAG	0.413																																						.											0													135	129	131					5																	102895830		2202	4300	6502	SO:0001819	synonymous_variant	83594			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.120T>C	5.37:g.102895830A>G			B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																				0.413	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		G	102895830	A	G	102895830	2	3	43	1	0	0	0	0	0	0	0	1	10728	214	8	4		4	NUDT12	5	102895830	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	8889947	102895830	78019430	264	3441											
PJA2	9867	ucsc.edu;mdanderson.org	37	chr5	108714549	108714549	+	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	ggaactggtggtgaaagaccAgtgtatgcctctgcctctct	8	11	12	10	0	2	2	0	1	2	1	3	3	2	3	3	3	3	1	3	3	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:108714549A>G	ENST00000361189.2	-	4	878	c.639T>C	c.(637-639)acT>acC	p.T213T	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Silent_p.T213T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	213					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GTGAAAGACCAGTGTATGCCT	0.408																																						.											0													143	129	134					5																	108714549		2202	4300	6502	SO:0001819	synonymous_variant	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.639T>C	5.37:g.108714549A>G			A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Silent	SNP	ENST00000361189.2	37	CCDS4099.1																																																																																				0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		G	108714549	A	G	108714549	2	3	43	1	0	0	0	0	0	0	0	1	11962	175	7	2		2	PJA2	5	108714549	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5818719	108714549	72200711	265	3442											
YTHDC2	64848	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	112902857	112902857	+	Missense_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	actctgagaattgggctgtcGttaaagctgcattggtggca	9	12	13	7	1	1	1	0	1	1	1	2	2	1	1	0	3	2	5	0	3	3	3	rs149048625		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:112902857G>A	ENST00000161863.4	+	22	3124	c.2911G>A	c.(2911-2913)Gtt>Att	p.V971I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	971					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGGGCTGTCGTTAAAGCTGC	0.443																																						.											0								G	ILE/VAL	0,4404		0,0,2202	153	134	141		2911	4.9	1	5	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	missense	YTHDC2	NM_022828.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	971/1431	112902857	1,13003	2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2911G>A	5.37:g.112902857G>A	ENSP00000161863:p.Val971Ile		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329351	0.81690	0.0	1.16E-4	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02763	4.17	4.86	4.86	0.63082	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	L	0.33093	0.98	0.80722	D	1	P	0.36944	0.574	B	0.40782	0.34	T	0.60500	-0.7251	10	0.22706	T	0.39	.	18.1593	0.89703	0.0:0.0:1.0:0.0	.	971	Q9H6S0	YTDC2_HUMAN	I	971;881	ENSP00000161863:V971I	ENSP00000161863:V971I	V	+	1	0	YTHDC2	112930756	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.612000	0.67681	2.513000	0.84729	0.563000	0.77884	GTT		0.443	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		A	112902857	G	A	112902857	3	1	43	1	0	0	0	0	1	0	0	0	17494	1145	40	1	2997	1	YTHDC2	5	112902857	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4188308	112902857	68012403	266	3443											
CCDC112	153733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	114607065	114607065	+	Missense_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	taattttaacttaaactggcGctggcgttctttctgatgtt	8	18	8	7	2	2	1	0	1	2	0	2	1	2	1	0	2	2	3	0	2	4	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:114607065G>A	ENST00000512261.1	-	8	1344	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	CCDC112_ENST00000379611.5_Missense_Mutation_p.R393C|CCDC112_ENST00000506442.1_Missense_Mutation_p.R310C|CCDC112_ENST00000395557.4_Missense_Mutation_p.R310C			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	310										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)		TTAAACTGGCGCTGGCGTTCT	0.358																																						.											0													136	144	142					5																	114607065		2202	4300	6502	SO:0001583	missense	153733			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.928C>T	5.37:g.114607065G>A	ENSP00000423712:p.Arg310Cys		Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255077	0.80135	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.25085	1.89;1.82;1.82;1.82	6.17	5.29	0.74685	.	0.211814	0.49305	D	0.000146	T	0.42921	0.1224	L	0.54323	1.7	0.47037	D	0.99929	D;D;D	0.76494	0.999;0.999;0.992	P;P;P	0.58130	0.833;0.833;0.752	T	0.39742	-0.9599	10	0.87932	D	0	-4.2486	16.4344	0.83871	0.0:0.0:0.8674:0.1326	.	310;393;310	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	C	393;310;310;310	ENSP00000368931:R393C;ENSP00000423712:R310C;ENSP00000424876:R310C;ENSP00000378925:R310C	ENSP00000368931:R393C	R	-	1	0	CCDC112	114634964	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.114000	0.50383	1.584000	0.49913	0.655000	0.94253	CGC		0.358	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		A	114607065	G	A	114607065	3	1	43	1	0	0	0	0	1	0	0	0	2749	1087	38	1	428	1	CCDC112	5	114607065	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1704208	114607065	66308195	267	3444											
DMXL1	1657	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	118500256	118500256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtagcagaagaagaacTgctgaacatgttgccagcca	14	7	10	10	0	1	4	1	1	0	3	1	4	1	4	2	0	6	4	2	0	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:118500256T>C	ENST00000311085.8	+	20	4837	c.4757T>C	c.(4756-4758)cTg>cCg	p.L1586P	DMXL1_ENST00000539542.1_Missense_Mutation_p.L1586P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1586										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)		GAAGAAGAACTGCTGAACATG	0.433																																						.											0													109	105	106					5																	118500256		2202	4300	6502	SO:0001583	missense	1657			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.4757T>C	5.37:g.118500256T>C	ENSP00000309690:p.Leu1586Pro			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576757	0.86645	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.70986	-0.53;-0.53	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90772	0.4673	10	0.87932	D	0	-5.389	15.7828	0.78275	0.0:0.0:0.0:1.0	.	1586;1586	F5H269;Q9Y485	.;DMXL1_HUMAN	P	1586	ENSP00000309690:L1586P;ENSP00000439479:L1586P	ENSP00000309690:L1586P	L	+	2	0	DMXL1	118528155	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.977000	0.88081	2.125000	0.65367	0.482000	0.46254	CTG		0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118500256	T	C	118500256	3	2	43	1	0	0	0	0	1	0	0	0	4594	1580	55	2	4835	2	DMXL1	5	118500256	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3893191	118500256	62415004	268	3445											
FTMT	94033	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	121188112	121188112	+	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	tcaagaagccggaacaggacGactgggaaagcgggctgcat	13	4	15	9	3	1	1	1	0	0	1	1	5	1	4	1	4	4	2	1	4	4	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:121188112G>A	ENST00000321339.1	+	1	463	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	152	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				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)		GGAACAGGACGACTGGGAAAG	0.587																																						.											0													90	88	89					5																	121188112		2203	4300	6503	SO:0001583	missense	94033			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.454G>A	5.37:g.121188112G>A	ENSP00000313691:p.Asp152Asn			Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793247	0.31685	.	.	ENSG00000181867	ENST00000321339	T	0.68181	-0.31	3.6	-0.168	0.13343	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.209784	0.38837	N	0.001553	T	0.59473	0.2196	M	0.70275	2.135	0.25718	N	0.985403	B	0.14805	0.011	B	0.18263	0.021	T	0.54430	-0.8295	10	0.52906	T	0.07	.	7.1071	0.25370	0.5427:0.0:0.4573:0.0	.	152	Q8N4E7	FTMT_HUMAN	N	152	ENSP00000313691:D152N	ENSP00000313691:D152N	D	+	1	0	FTMT	121216011	1.000000	0.71417	0.260000	0.24451	0.985000	0.73830	2.184000	0.42575	-0.062000	0.13088	0.655000	0.94253	GAC		0.587	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		A	121188112	G	A	121188112	3	1	43	1	0	0	0	0	1	0	0	0	6085	1058	37	1	456	1	FTMT	5	121188112	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2687856	121188112	59727148	269	3446											
SIL1	64374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	138287496	138287496	+	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	ccttcttctttgcagtgagcGgctgctccgtggccaggatg	4	12	13	12	2	2	1	0	1	2	0	3	2	3	2	3	3	3	3	3	3	0	3	rs201546394	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:138287496G>A	ENST00000394817.2	-	8	984	c.845C>T	c.(844-846)cCg>cTg	p.P282L	SIL1_ENST00000265195.5_Missense_Mutation_p.P282L|SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000509534.1_Missense_Mutation_p.P289L	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	282					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)			TGCAGTGAGCGGCTGCTCCGT	0.617									Marinesco-Sjgren syndrome				G|||	4	0.000798722	0	0	5008	,	,		19521	0.004		0	False		,,,				2504	0					.											0													132	113	119					5																	138287496		2203	4300	6503	SO:0001583	missense	64374	Familial Cancer Database	Marinesco-Sjogren syndrome	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.845C>T	5.37:g.138287496G>A	ENSP00000378294:p.Pro282Leu		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.21	3.332730	0.60853	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.51574	0.7;0.7;0.7	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.182869	0.48767	D	0.000174	T	0.55577	0.1929	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.53401	0.725;0.676	T	0.56050	-0.8043	10	0.42905	T	0.14	-6.8693	14.6129	0.68529	0.0:0.0:1.0:0.0	.	289;282	D6REA1;Q9H173	.;SIL1_HUMAN	L	282;282;289	ENSP00000378294:P282L;ENSP00000265195:P282L;ENSP00000426858:P289L	ENSP00000265195:P282L	P	-	2	0	SIL1	138315395	1.000000	0.71417	0.990000	0.47175	0.228000	0.25075	3.288000	0.51739	2.471000	0.83476	0.655000	0.94253	CCG		0.617	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		A	138287496	G	A	138287496	3	1	43	1	0	0	0	0	1	0	0	0	14321	1116	39	1	552	1	SIL1	5	138287496	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	17099384	138287496	42627764	270	3447											
NRG2	9542	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	139251392	139251392	+	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	gctgtctcgttgcacttccgGgcgtgccccgaccaggatga	5	9	13	14	4	1	1	0	1	1	0	3	3	2	2	4	2	2	3	4	2	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:139251392G>T	ENST00000361474.1	-	4	1250	c.1026C>A	c.(1024-1026)gcC>gcA	p.A342A	NRG2_ENST00000394770.1_Silent_p.A342A|NRG2_ENST00000340391.3_Silent_p.A139A|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000289422.7_Silent_p.A342A|NRG2_ENST00000545385.1_Silent_p.A342A|NRG2_ENST00000358522.3_Silent_p.A342A|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289409.4_Silent_p.A342A	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	342	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACTTCCGGGCGTGCCCCG	0.562																																						.											0													164	123	137					5																	139251392		2203	4300	6503	SO:0001819	synonymous_variant	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1026C>A	5.37:g.139251392G>T				Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																				0.562	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		T	139251392	G	T	139251392	2	4	43	1	0	0	0	0	0	0	0	1	10648	1219	43	5		5	NRG2	5	139251392	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	963896	139251392	41663868	271	3448											
ANKHD1	54882	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	139815782	139815782	+	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	caagtactgcagaaggagcaGacttacgcactgtggatcca	13	7	11	10	1	0	2	0	0	0	2	1	4	1	4	1	2	4	4	1	2	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:139815782G>A	ENST00000360839.2	+	2	554	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D134N|ANKHD1_ENST00000297183.6_Missense_Mutation_p.D134N|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D134N|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D134N	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	134						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)			AGAAGGAGCAGACTTACGCAC	0.368																																						.											0													90	92	91					5																	139815782		2203	4300	6503	SO:0001583	missense	54882			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.400G>A	5.37:g.139815782G>A	ENSP00000354085:p.Asp134Asn		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529525	0.85706	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.72835	-0.68;-0.69;-0.67;-0.32;-0.42;-0.2;-0.69	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	N	0.24115	0.695	0.80722	D	1	D;D;D;P;B	0.69078	0.968;0.997;0.997;0.936;0.314	P;D;D;P;B	0.77004	0.856;0.989;0.989;0.755;0.121	T	0.76141	-0.3068	10	0.39692	T	0.17	.	19.344	0.94356	0.0:0.0:1.0:0.0	.	134;134;134;134;134	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	N	134;148;134;134;134;134;134;134;134	ENSP00000354085:D134N;ENSP00000297183:D134N;ENSP00000394489:D134N;ENSP00000378212:D134N;ENSP00000421069:D134N;ENSP00000378211:D134N;ENSP00000432016:D134N	ENSP00000432016:D134N	D	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139795966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.534000	0.85438	0.655000	0.94253	GAC		0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		A	139815782	G	A	139815782	3	1	43	1	0	0	0	0	1	0	0	0	628	942	33	4	406	4	ANKHD1	5	139815782	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	564390	139815782	41099478	272	3449											
PCDHA6	56142	broad.mit.edu	37	chr5	140209042	140209042	+	Missense_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	atgacaatgctccggcgttcGcgcagcccgagtacacagtg	9	7	12	13	5	0	1	0	1	0	0	2	2	1	1	2	1	3	4	2	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140209042G>A	ENST00000529310.1	+	1	1480	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A456T|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_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	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCGA	0.657																																						.											0													52	59	56					5																	140209042		2203	4300	6503	SO:0001583	missense	56142			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.1366G>A	5.37:g.140209042G>A	ENSP00000433378:p.Ala456Thr		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	0.141	-1.101871	0.01828	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01359	4.98;4.98	3.55	1.67	0.24075	Cadherin (3);Cadherin-like (1);	0.220936	0.22040	U	0.065461	T	0.01029	0.0034	N	0.12569	0.235	0.09310	N	1	B;B;B	0.24823	0.018;0.091;0.112	B;B;B	0.28011	0.085;0.025;0.043	T	0.48822	-0.9001	10	0.42905	T	0.14	.	6.2726	0.20963	0.0816:0.1306:0.6539:0.1338	.	456;456;456	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	456	ENSP00000433378:A456T;ENSP00000434113:A456T	ENSP00000434113:A456T	A	+	1	0	PCDHA6	140189226	0.000000	0.05858	0.609000	0.28983	0.003000	0.03518	-1.403000	0.02497	-0.001000	0.14495	-1.786000	0.00637	GCG		0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		A	140209042	G	A	140209042	3	1	43	1	0	0	0	0	1	0	0	0	11528	1087	38	1	1368	1	PCDHA6	5	140209042	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	393260	140209042	40706218	273	3450											
PCDHA8	56140	hgsc.bcm.edu;mdanderson.org	37	chr5	140222343	140222343	+	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	cacatcttcacggtgtctgcGcgagacgcggacgcgcagga	8	6	14	13	7	3	1	1	0	2	1	3	4	3	3	0	3	1	1	0	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140222343G>A	ENST00000531613.1	+	1	1437	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A479A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTCTGCGCGAGACGCGG	0.657																																						.											0													44	49	47					5																	140222343		2195	4260	6455	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1437G>A	5.37:g.140222343G>A			B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																				0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140222343	G	A	140222343	2	1	43	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222343	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13301	140222343	40692917	274	3451											
PCDHA9	9752	hgsc.bcm.edu;mdanderson.org	37	chr5	140229541	140229541	+	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	gacgctgacgcgcaggagaaCgccctggtgtcctactcgct	7	7	13	14	5	0	2	0	1	0	1	2	4	1	2	2	2	2	3	2	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140229541C>T	ENST00000532602.1	+	1	2494	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.N487N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	487	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(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)			CGCAGGAGAACGCCCTGGTGT	0.667																																					Melanoma(55;1800 1972 14909)	.											0													55	63	60					5																	140229541		2194	4269	6463	SO:0001819	synonymous_variant	9752			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.1461C>T	5.37:g.140229541C>T			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140229541	C	T	140229541	2	4	43	1	0	0	0	0	0	0	0	1	11531	535	19	1		1	PCDHA9	5	140229541	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7198	140229541	40685719	275	3452											
PCDHA11	56138	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	140250128	140250128	+	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	ttcacagtgtcggcgcgggaCgcggacgcgcaggagaacgc	8	4	17	12	8	1	1	1	0	0	1	2	4	1	3	0	4	1	1	0	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140250128C>T	ENST00000398640.2	+	1	1440	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGGGACGCGGACGCGC	0.662																																						.											0													91	95	94					5																	140250128		2203	4300	6503	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1440C>T	5.37:g.140250128C>T			B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		T	140250128	C	T	140250128	2	4	43	1	0	0	0	0	0	0	0	1	11521	535	19	1		1	PCDHA11	5	140250128	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	20587	140250128	40665132	276	3453											
PCDHB8	56128	mdanderson.org	37	chr5	140559320	140559320	+	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	tgctgtacccgctgcagaatGgctccgcgccctgcaccgag	6	7	12	16	4	0	1	0	0	0	1	1	2	1	1	4	1	4	6	4	1	2	1	rs17844498	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140559320G>A	ENST00000239444.2	+	1	1950	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.			G -> S (in Ref. 4; AAG10031). {ECO:0000305}.	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)			GCTGCAGAATGGCTCCGCGCC	0.716													g|||	2327	0.464657	0.4826	0.5	5008	,	,		18920	0.5625		0.3857	False		,,,				2504	0.3957					.											0													15	26	22					5																	140559320		2189	4273	6462	SO:0001583	missense	56128			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.1705G>A	5.37:g.140559320G>A	ENSP00000239444:p.Gly569Ser		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	962	0.44047619047619047	215	0.4369918699186992	163	0.45027624309392267	320	0.5594405594405595	264	0.3482849604221636	G	6.532	0.466426	0.12402	.	.	ENSG00000120322	ENST00000239444	T	0.60797	0.16	4.22	2.36	0.29203	Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.21448	0.665	0.80722	P	0.0	B	0.11235	0.004	B	0.20767	0.031	T	0.45687	-0.9244	8	0.45353	T	0.12	.	8.2304	0.31595	0.2825:0.0:0.7175:0.0	rs17844498	569	Q9UN66	PCDB8_HUMAN	S	569	ENSP00000239444:G569S	ENSP00000239444:G569S	G	+	1	0	PCDHB8	140539504	0.000000	0.05858	0.335000	0.25508	0.491000	0.33493	0.188000	0.17018	0.235000	0.21160	-0.706000	0.03657	GGC		0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		A	140559320	G	A	140559320	3	1	43	1	0	0	0	0	1	0	0	0	11548	1348	47	4	1707	4	PCDHB8	5	140559320	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	309192	140559320	40355940	277	3454											
PCDHGA4	56111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	140735119	140735119	+	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	aagatacagtgaagattttgCgggtagaggtggaaataatc	15	10	13	3	1	0	4	0	1	0	3	1	5	0	5	0	3	2	1	0	3	6	5	rs182004159	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140735119C>T	ENST00000571252.1	+	1	352	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	118	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATTTTGCGGGTAGAGGT	0.458																																						.											0													52	55	54					5																	140735119		1938	4172	6110	SO:0001583	missense	56111			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.352C>T	5.37:g.140735119C>T	ENSP00000458570:p.Arg118Trp		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140735119	C	T	140735119	3	4	43	1	0	0	0	0	1	0	0	0	11556	759	27	1	354	1	PCDHGA4	5	140735119	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	175799	140735119	40180141	278	3455											
PCDHGB2	56103	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	140740942	140740942	+	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	acggcgctctggaccgggagGagatcccagaatacaatctc	11	6	12	12	3	2	2	0	0	2	2	4	5	3	4	2	4	1	1	2	4	3	1	rs267600451		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140740942G>A	ENST00000522605.1	+	1	1240	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GGACCGGGAGGAGATCCCAGA	0.502																																						.											0													73	82	79					5																	140740942		2010	4158	6168	SO:0001583	missense	56103			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.1240G>A	5.37:g.140740942G>A	ENSP00000429018:p.Glu414Lys		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.043203	0.00398	.	.	ENSG00000253910	ENST00000522605	T	0.01725	4.67	5.3	-0.3	0.12804	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01523	0.0049	N	0.21324	0.655	0.09310	N	1	B;B	0.14012	0.002;0.009	B;B	0.11329	0.003;0.006	T	0.46952	-0.9154	9	0.13108	T	0.6	.	12.16	0.54099	0.1306:0.6011:0.2683:0.0	.	414;414	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	K	414	ENSP00000429018:E414K	ENSP00000429018:E414K	E	+	1	0	PCDHGB2	140721126	0.000000	0.05858	0.664000	0.29753	0.035000	0.12851	-0.204000	0.09425	0.016000	0.14998	-0.176000	0.13171	GAG		0.502	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140740942	G	A	140740942	3	1	43	1	0	0	0	0	1	0	0	0	11563	1175	41	3	1242	3	PCDHGB2	5	140740942	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5823	140740942	40174318	279	3456											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750096	140750096	+	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	gaggagctggacaggggctcGctggtagggaacctcgccaa	9	5	17	10	2	0	0	0	0	0	0	2	4	0	3	2	6	2	4	2	6	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140750096G>A	ENST00000576222.1	+	1	266	c.135G>A	c.(133-135)tcG>tcA	p.S45S	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGGGCTCGCTGGTAGGGA	0.552																																						.											0													73	82	79					5																	140750096		1865	4098	5963	SO:0001819	synonymous_variant	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.135G>A	5.37:g.140750096G>A			A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.552	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140750096	G	A	140750096	2	1	43	1	0	0	0	0	0	0	0	1	11564	1074	38	1		1	PCDHGB3	5	140750096	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9154	140750096	40165164	280	3457											
PCDHGB5	56102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr5	140779700	140779700	+	Intron	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	cagcttgcaggaggtgctgcCggatatcactgaccgccctg	7	8	13	13	2	1	1	1	1	0	0	1	3	1	3	3	3	4	3	3	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140779700C>T	ENST00000576222.1	+	1	2546				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCTGCCGGATATCACT	0.622																																						.											0													146	157	154					5																	140779700		2180	4263	6443	SO:0001627	intron_variant	56101			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27324C>T	5.37:g.140779700C>T			A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.622	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140779700	C	T	140779700	1	4	43	0	1	0	0	0	0	0	0	0	11566	652	23	1		1	PCDHGB5	5	140779700	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	29604	140779700	40135560	281	3458											
RELL2	285613	broad.mit.edu	37	chr5	141019122	141019122	+	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	ccccttgcctccattgcagcCgcagcaagaggcctccactt	7	8	8	18	1	0	1	0	0	0	1	2	1	2	1	7	1	4	3	7	1	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:141019122C>T	ENST00000297164.3	+	4	1609	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	HDAC3_ENST00000305264.3_5'Flank|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.R71C|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Missense_Mutation_p.R137C|RELL2_ENST00000521367.1_Missense_Mutation_p.R71C	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	137					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGCAGCCGCAGCAAGAG	0.647																																						.											0													42	44	43					5																	141019122		2202	4300	6502	SO:0001583	missense	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.409C>T	5.37:g.141019122C>T	ENSP00000297164:p.Arg137Cys		D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	ENST00000297164.3	37	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833101	0.71258	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.7	5.7	0.88788	.	0.502118	0.19074	N	0.123434	T	0.49490	0.1560	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.63703	0.917;0.869	T	0.46247	-0.9205	10	0.87932	D	0	-12.8261	14.2977	0.66325	0.1858:0.8142:0.0:0.0	.	71;137	E5RHA7;Q8NC24	.;RELL2_HUMAN	C	137;71;137;71	ENSP00000409443:R137C;ENSP00000430948:R71C;ENSP00000297164:R137C;ENSP00000427992:R71C	ENSP00000297164:R137C	R	+	1	0	RELL2	140999306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.731000	0.55013	2.683000	0.91414	0.655000	0.94253	CGC		0.647	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		T	141019122	C	T	141019122	3	4	43	1	0	0	0	0	1	0	0	0	13219	652	23	1	423	1	RELL2	5	141019122	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	239422	141019122	39896138	282	3459											
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	141233894	141233894	+	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	ggcgctgctcttggtccggcGgctgggagatgactggccag	4	8	18	11	3	1	2	0	1	1	1	2	3	2	2	2	6	1	3	2	6	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:141233894G>A	ENST00000287008.3	-	5	3574	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTGGTCCGGCGGCTGGGAGAT	0.657																																					Ovarian(132;1609 1739 4190 14731 45037)	.											0													26	24	24					5																	141233894		2196	4287	6483	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3427C>T	5.37:g.141233894G>A	ENSP00000287008:p.Arg1143Cys		Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433086	0.62844	.	.	ENSG00000156453	ENST00000287008	T	0.54675	0.56	4.27	4.27	0.50696	.	0.000000	0.41500	U	0.000867	T	0.67924	0.2945	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72141	-0.4380	10	0.87932	D	0	.	14.5302	0.67920	0.0:0.0:1.0:0.0	.	1143	Q08174-2	.	C	1143	ENSP00000287008:R1143C	ENSP00000287008:R1143C	R	-	1	0	PCDH1	141214078	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.111000	0.71541	2.079000	0.62486	0.313000	0.20887	CGC		0.657	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		A	141233894	G	A	141233894	3	1	43	1	0	0	0	0	1	0	0	0	11506	1116	39	1	290	1	PCDH1	5	141233894	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	214772	141233894	39681366	283	3460											
NR3C1	2908	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	142661564	142661564	+	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	ttcaatactcatggtcttatCcaaaaatgtttggaagcaat	14	14	6	7	0	3	0	2	0	1	0	4	1	4	1	1	2	2	2	1	2	7	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:142661564C>T	ENST00000343796.2	-	9	3217	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	NR3C1_ENST00000394464.2_Missense_Mutation_p.D742N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D742N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D743N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D743N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D716N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D743N|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000416954.2_Missense_Mutation_p.D345N	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)	742	Interaction with CLOCK.|Steroid-binding.				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)	ATGGTCTTATCCAAAAATGTT	0.358																																						.											0													113	114	114					5																	142661564		2203	4300	6503	SO:0001583	missense	2908			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.2224G>A	5.37:g.142661564C>T	ENSP00000343205:p.Asp742Asn		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676170	0.14841	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	5.93	5.07	0.68467	Nuclear hormone receptor, ligand-binding (2);	0.136660	0.64402	D	0.000003	D	0.92057	0.7483	N	0.08118	0	0.48452	D	0.999652	B;D	0.89917	0.302;1.0	B;D	0.87578	0.101;0.998	D	0.88085	0.2809	10	0.02654	T	1	.	15.2886	0.73849	0.0:0.9331:0.0:0.0669	.	742;743	P04150;E5KQF6	GCR_HUMAN;.	N	742;742;558;716;743;743;743;345;742	ENSP00000377977:D742N;ENSP00000343205:D742N;ENSP00000405282:D716N;ENSP00000422518:D743N;ENSP00000377979:D743N;ENSP00000231509:D743N;ENSP00000404218:D345N;ENSP00000427672:D742N	ENSP00000231509:D743N	D	-	1	0	NR3C1	142641757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.991000	0.56973	1.528000	0.49103	0.655000	0.94253	GAT		0.358	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			T	142661564	C	T	142661564	3	4	43	1	0	0	0	0	1	0	0	0	10630	855	30	3	165	3	NR3C1	5	142661564	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1427670	142661564	38253696	284	3461											
SH3RF2	153769	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	145428792	145428792	+	Missense_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	gcatcttcccaaacaattacGtcatccccattttcaggtgt	10	13	5	13	1	3	0	2	0	1	0	5	0	5	0	3	1	2	1	3	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:145428792G>A	ENST00000511217.1	+	6	1358	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SH3RF2_ENST00000359120.4_Missense_Mutation_p.V436I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	436	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACAATTACGTCATCCCCAT	0.607											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													70	69	69					5																	145428792		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1306G>A	5.37:g.145428792G>A	ENSP00000424497:p.Val436Ile	1694	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452171	0.63290	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.51817	0.69;0.69	5.29	5.29	0.74685	Src homology-3 domain (4);	0.192109	0.34802	N	0.003667	T	0.45135	0.1327	M	0.67517	2.055	0.49389	D	0.999788	P	0.43938	0.822	B	0.32342	0.144	T	0.56257	-0.8009	10	0.59425	D	0.04	-18.2123	17.6888	0.88263	0.0:0.0:1.0:0.0	.	436	Q8TEC5	SH3R2_HUMAN	I	436	ENSP00000352028:V436I;ENSP00000424497:V436I	ENSP00000352028:V436I	V	+	1	0	SH3RF2	145408985	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.238000	0.65366	2.470000	0.83445	0.484000	0.47621	GTC		0.607	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		A	145428792	G	A	145428792	3	1	43	1	0	0	0	0	1	0	0	0	14259	1145	40	1	1328	1	SH3RF2	5	145428792	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2767228	145428792	35486468	285	3462											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212386	149212386	+	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	gccaaggaggacaaggagccGggtgaggactgcccgagccc	10	2	17	12	2	0	1	0	1	0	0	0	6	0	5	4	5	3	0	4	5	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:149212386G>A	ENST00000309241.5	+	5	782	c.750G>A	c.(748-750)ccG>ccA	p.P250P	PPARGC1B_ENST00000403750.1_Silent_p.P186P|PPARGC1B_ENST00000394320.3_Silent_p.P250P|PPARGC1B_ENST00000360453.4_Silent_p.P211P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	250					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACAAGGAGCCGGGTGAGGACT	0.682																																						.											0													34	42	39					5																	149212386		2202	4299	6501	SO:0001819	synonymous_variant	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.750G>A	5.37:g.149212386G>A			A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	CCDS4298.1																																																																																				0.682	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		A	149212386	G	A	149212386	2	1	43	1	0	0	0	0	0	0	0	1	12301	1103	39	1		1	PPARGC1B	5	149212386	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3783594	149212386	31702874	286	3463											
GALNT10	55568	broad.mit.edu;mdanderson.org	37	chr5	153795447	153795447	+	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	accagccctgtcacgctgtaCgactgccacagcatgaaggg	10	6	11	14	2	1	1	1	1	0	0	1	2	1	1	3	1	4	3	3	1	2	1	rs368630751		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:153795447C>T	ENST00000297107.6	+	11	1745	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	GALNT10_ENST00000377661.2_Silent_p.Y474Y|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Silent_p.Y209Y	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	536	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(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)			TCACGCTGTACGACTGCCACA	0.537																																						.											0								T		0,4406		0,0,2203	102	92	95		1608	-11.2	0.1	5		95	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	GALNT10	NM_198321.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		536/604	153795447	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55568			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.1608C>T	5.37:g.153795447C>T			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	CCDS4325.1																																																																																				0.537	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		T	153795447	C	T	153795447	2	4	43	1	0	0	0	0	0	0	0	1	6208	547	19	1		1	GALNT10	5	153795447	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4583061	153795447	27119813	287	3464											
ATP10B	23120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	160047389	160047389	+	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	ccagcaggtccatgatgaccGagtcagcacccttggtgtag	9	8	12	12	1	1	2	1	2	0	0	2	3	2	2	4	2	2	3	4	2	1	2	rs375049408		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:160047389G>A	ENST00000327245.5	-	15	3227	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	794					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)			CATGATGACCGAGTCAGCACC	0.537																																						.											0								G	LEU/SER	0,4102		0,0,2051	59	62	61		2381	4.6	0.8	5		61	1,8387		0,1,4193	no	missense	ATP10B	NM_025153.2	145	0,1,6244	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	794/1462	160047389	1,12489	2051	4194	6245	SO:0001583	missense	23120			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.2381C>T	5.37:g.160047389G>A	ENSP00000313600:p.Ser794Leu		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190491	0.78789	0.0	1.19E-4	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.70164	-0.46;-0.46	5.48	4.61	0.57282	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.236620	0.37012	N	0.002294	T	0.74786	0.3762	M	0.92923	3.36	0.45464	D	0.998431	P;P	0.49862	0.774;0.929	B;B	0.41374	0.284;0.355	T	0.82192	-0.0579	9	.	.	.	.	15.5072	0.75750	0.0:0.1472:0.8528:0.0	.	402;794	Q2YDW8;O94823	.;AT10B_HUMAN	L	794;402	ENSP00000313600:S794L;ENSP00000431081:S402L	.	S	-	2	0	ATP10B	159979967	0.950000	0.32346	0.812000	0.32479	0.948000	0.59901	1.469000	0.35343	1.307000	0.44944	0.644000	0.83932	TCG		0.537	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160047389	G	A	160047389	3	1	43	1	0	0	0	0	1	0	0	0	1117	1059	37	1	2052	1	ATP10B	5	160047389	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6251942	160047389	20867871	288	3465											
GABRA6	2559	bcgsc.ca	37	chr5	161119027	161119027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtcatatgccactgccAtggattggttcatagctgtt	9	14	10	8	0	2	0	2	0	0	0	2	1	2	1	2	2	3	3	2	2	3	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:161119027A>G	ENST00000274545.5	+	8	1340	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.M293V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	303					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGCCACTGCCATGGATTGGTT	0.438										TCGA Ovarian(5;0.080)																												.											0													161	137	145					5																	161119027		2203	4300	6503	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.907A>G	5.37:g.161119027A>G	ENSP00000274545:p.Met303Val		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627125	0.87560	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85955	-2.05;-2.05	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	L	0.38733	1.17	0.58432	D	0.999994	D	0.76494	0.999	D	0.85130	0.997	D	0.90200	0.4256	10	0.87932	D	0	.	15.2799	0.73773	1.0:0.0:0.0:0.0	.	303	Q16445	GBRA6_HUMAN	V	303;293	ENSP00000274545:M303V;ENSP00000430527:M293V	ENSP00000274545:M303V	M	+	1	0	GABRA6	161051605	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.228000	0.95250	1.997000	0.58415	0.528000	0.53228	ATG		0.438	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			G	161119027	A	G	161119027	3	3	43	1	0	0	0	0	1	0	0	0	6165	217	8	4	937	4	GABRA6	5	161119027	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1071638	161119027	19796233	289	3466											
GABRG2	2566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	161531032	161531032	+	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	aagtagtgaagacaacttccGgtaagatgcactggcaaaga	16	7	11	7	1	0	4	0	1	0	3	1	4	1	4	1	2	2	4	1	2	6	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:161531032G>A	ENST00000361925.4	+	6	989	c.769G>A	c.(769-771)Gga>Aga	p.G257R	GABRG2_ENST00000414552.2_Splice_Site_p.G297R|GABRG2_ENST00000356592.3_Splice_Site_p.G257R|GABRG2_ENST00000393933.4_Splice_Site_p.G162R			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	257					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)	GACAACTTCCGGTAAGATGCA	0.383																																						.											0													69	67	68					5																	161531032		2203	4300	6503	SO:0001630	splice_region_variant	2566				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.769+1G>A	5.37:g.161531032G>A			F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171779	0.78452	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.098346	0.64402	D	0.000001	D	0.91600	0.7346	M	0.89163	3.01	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	0.92927	0.6360	10	0.87932	D	0	.	18.7444	0.91787	0.0:0.0:1.0:0.0	.	297;257;257	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	R	257;297;257;162;162	ENSP00000349000:G257R;ENSP00000410732:G297R;ENSP00000354651:G257R;ENSP00000377510:G162R;ENSP00000430182:G162R	ENSP00000349000:G257R	G	+	1	0	GABRG2	161463610	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.751000	0.98889	2.533000	0.85409	0.655000	0.94253	GGA		0.383	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		Missense_Mutation	A	161531032	G	A	161531032	5	1	43	1	0	0	0	0	0	0	1	0	6172	1130	39	1	915	1	GABRG2	5	161531032	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	412005	161531032	19384228	290	3467											
SLIT3	6586	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	168096804	168096804	+	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	ccaccttgttggcagtgctcGccgctaaagccgggctggca	6	8	13	14	3	0	0	0	0	0	0	1	0	0	0	4	3	2	6	4	3	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:168096804G>A	ENST00000519560.1	-	35	4739	c.4320C>T	c.(4318-4320)ggC>ggT	p.G1440G	SLIT3_ENST00000332966.8_Silent_p.G1447G|SLIT3_ENST00000404867.3_Silent_p.G1440G|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1440	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			GGCAGTGCTCGCCGCTAAAGC	0.592																																					Ovarian(29;311 847 10864 17279 24903)	.											0													82	63	70					5																	168096804		2203	4300	6503	SO:0001819	synonymous_variant	6586			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.4320C>T	5.37:g.168096804G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																				0.592	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		A	168096804	G	A	168096804	2	1	43	1	0	0	0	0	0	0	0	1	14741	1074	38	1		1	SLIT3	5	168096804	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6565772	168096804	12818456	291	3468											
KCNIP1	30820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr5	169931585	169931585	+	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	gtcttcgctgccatgggggcCgtcatgggcaccttctcatc	4	11	12	14	2	3	0	2	0	2	0	6	0	3	0	3	3	1	2	3	3	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:169931585C>T	ENST00000411494.1	+	1	9	c.9C>T	c.(7-9)gcC>gcT	p.A3A	KCNIP1_ENST00000390656.4_Silent_p.A3A|KCNIP1_ENST00000328939.4_Silent_p.A3A|KCNIP1_ENST00000434108.1_Silent_p.A3A|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000520740.1_5'UTR			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	3					detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATGGGGGCCGTCATGGGCA	0.582																																						.											0													86	90	89					5																	169931585		2203	4300	6503	SO:0001819	synonymous_variant	30820			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"EF-hand domain containing"	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.9C>T	5.37:g.169931585C>T			B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Silent	SNP	ENST00000411494.1	37	CCDS34286.1																																																																																				0.582	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			T	169931585	C	T	169931585	2	4	43	1	0	0	0	0	0	0	0	1	8039	639	23	1		1	KCNIP1	5	169931585	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1834781	169931585	10983675	292	3469											
STK10	6793	broad.mit.edu	37	chr5	171482625	171482626	+	Frame_Shift_Ins	INS	-	-	C																															cacgctgctcagctgcgctgINScccccgccgttgatgtggag																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:171482625_171482626insC	ENST00000176763.5	-	16	2835_2836	c.2492_2493insG	c.(2491-2493)ggcfs	p.G831fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	831	Gln-rich.				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)			CAGCTGCGCTGCCCCCGCCGTT	0.653																																						.											0																																										SO:0001589	frameshift_variant	6793			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.2493dupG	5.37:g.171482630_171482630dupC	ENSP00000176763:p.Gly831fs		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	CCDS34290.1																																																																																				0.653	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		C	171482626	-	C	171482625	7	5	43	1	0	1	1	0	0	0	0	0	15285	1306	46	0	429	0	STK10	5	171482625	Frame_Shift_Ins	INS	-	TCGA-KN-8428-01A-11D-2310-10	1551040	171482625	9432635	293	3470											
COL23A1	91522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	177679589	177679589	+	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	ccctgggggcccctgtggtcCgggaggcccctgtgtgtgag	2	8	18	13	1	0	1	0	1	0	0	1	2	1	2	6	5	0	0	6	5	0	0	rs371777604		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:177679589C>T	ENST00000390654.3	-	17	1327	c.970G>A	c.(970-972)Gga>Aga	p.G324R		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	324	Collagen-like 3.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCTGTGGTCCGGGAGGCCCC	0.642																																						.											0								C	ARG/GLY	0,3884		0,0,1942	33	42	39		970	3.7	0.9	5		39	1,8237		0,1,4118	no	missense	COL23A1	NM_173465.3	125	0,1,6060	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	324/541	177679589	1,12121	1942	4119	6061	SO:0001583	missense	91522			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.970G>A	5.37:g.177679589C>T	ENSP00000375069:p.Gly324Arg		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218647	0.39201	0.0	1.21E-4	ENSG00000050767	ENST00000390654	D	0.99353	-5.77	3.73	3.73	0.42828	.	0.000000	0.64402	D	0.000004	D	0.99667	0.9876	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97270	0.9910	10	0.87932	D	0	-9.5659	11.2277	0.48892	0.0:1.0:0.0:0.0	.	324	Q86Y22	CONA1_HUMAN	R	324	ENSP00000375069:G324R	ENSP00000375069:G324R	G	-	1	0	COL23A1	177612195	0.988000	0.35896	0.873000	0.34254	0.785000	0.44390	4.157000	0.58144	2.092000	0.63282	0.563000	0.77884	GGA		0.642	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		T	177679589	C	T	177679589	3	4	43	1	0	0	0	0	1	0	0	0	3682	661	23	1	704	1	COL23A1	5	177679589	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6196964	177679589	3235671	294	3471											
MAML1	9794	broad.mit.edu;mdanderson.org	37	chr5	179192794	179192794	+	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	atcgaggagctgaacaggtcGgtgcccgatgaagacatgaa	13	6	14	8	3	0	4	0	3	0	1	2	7	0	5	1	3	3	1	1	3	3	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:179192794G>A	ENST00000292599.3	+	2	1046	c.783G>A	c.(781-783)tcG>tcA	p.S261S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACAGGTCGGTGCCCGATG	0.547																																						.											0													80	72	75					5																	179192794		2203	4300	6503	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.783G>A	5.37:g.179192794G>A				Silent	SNP	ENST00000292599.3	37	CCDS34315.1																																																																																				0.547	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		A	179192794	G	A	179192794	2	1	43	1	0	0	0	0	0	0	0	1	9205	1103	39	1		1	MAML1	5	179192794	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1513205	179192794	1722466	295	3472											
FLT4	2324	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	180052908	180052908	+	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	tcttgcagggtgtccagggcCgccagtgccactggatgctg	5	9	15	12	1	1	0	0	0	1	0	2	1	2	1	4	3	3	2	4	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:180052908C>T	ENST00000261937.6	-	10	1460	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R461Q|FLT4_ENST00000393347.3_Missense_Mutation_p.R461Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	461	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)	p.R461Q(2)		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)	TGTCCAGGGCCGCCAGTGCCA	0.667																																					Colon(97;1075 1466 27033 27547 35871)	.											2	Substitution - Missense(2)	lung(2)											38	45	42					5																	180052908		2201	4294	6495	SO:0001583	missense	2324			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.1382G>A	5.37:g.180052908C>T	ENSP00000261937:p.Arg461Gln		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192772	0.58017	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.93953	-3.32;-3.32;-3.32	4.26	4.26	0.50523	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94172	0.8130	L	0.45744	1.44	0.58432	D	0.999996	D;B;B	0.89917	1.0;0.037;0.064	D;B;B	0.72338	0.977;0.02;0.034	D	0.91303	0.5068	9	0.06891	T	0.86	.	17.0681	0.86564	0.0:1.0:0.0:0.0	.	461;461;461	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	Q	461;461;461;271	ENSP00000261937:R461Q;ENSP00000377016:R461Q;ENSP00000426057:R461Q	ENSP00000261937:R461Q	R	-	2	0	FLT4	179985514	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	5.593000	0.67550	2.117000	0.64856	0.561000	0.74099	CGG		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180052908	C	T	180052908	3	4	43	1	0	0	0	0	1	0	0	0	5944	652	23	1	2801	1	FLT4	5	180052908	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	860114	180052908	862352	296	3473											
FAM50B	26240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	3850118	3850118	+	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	tcaagaagcgcgaaaggcagCgggagcagatggaggtgctg	12	4	18	7	3	1	2	1	0	0	2	1	5	1	4	0	4	4	3	0	4	3	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:3850118C>T	ENST00000380274.1	+	1	499	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	FAM50B_ENST00000380272.3_Missense_Mutation_p.R25W			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	25						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGAAAGGCAGCGGGAGCAGAT	0.652																																						.											0													47	42	43					6																	3850118		2203	4300	6503	SO:0001583	missense	26240			Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.73C>T	6.37:g.3850118C>T	ENSP00000369627:p.Arg25Trp		Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804072	0.70682	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.16	-3.77	0.04346	.	0.614436	0.15622	N	0.252852	T	0.45796	0.1360	M	0.64404	1.975	0.32106	N	0.589936	D	0.65815	0.995	P	0.52343	0.696	T	0.62011	-0.6944	9	0.87932	D	0	-14.4722	16.4087	0.83699	0.2079:0.7921:0.0:0.0	.	25	Q9Y247	FA50B_HUMAN	W	25	.	ENSP00000369625:R25W	R	+	1	2	FAM50B	3795117	0.997000	0.39634	0.695000	0.30226	0.935000	0.57460	0.275000	0.18698	-0.356000	0.08187	-0.397000	0.06425	CGG		0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		T	3850118	C	T	3850118	3	4	43	1	0	0	0	0	1	0	0	0	5578	759	27	1	75	1	FAM50B	6	3850118	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		3850118	167264949	297	3474											
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	7231628	7231628	+	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	aagcactggcagtaacaccaCggcttcagacagcttaggag	13	6	11	11	1	1	1	1	0	0	1	1	2	1	2	1	3	3	5	1	3	3	3	rs376220493		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7231628C>T	ENST00000349384.6	+	10	3610	c.3296C>T	c.(3295-3297)aCg>aTg	p.T1099M	RREB1_ENST00000379933.3_Missense_Mutation_p.T1099M|RREB1_ENST00000379938.2_Missense_Mutation_p.T1099M|RREB1_ENST00000334984.6_Missense_Mutation_p.T1099M	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1099					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)				AGTAACACCACGGCTTCAGAC	0.627													C|||	1	0.000199681	0	0	5008	,	,		13398	0		0	False		,,,				2504	0.001					.											0								C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	35	40	38		3296,3296,3296,3296	1.1	0	6		38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1099/1688,1099/1743,1099/1477,1099/1688	7231628	1,13005	2203	4300	6503	SO:0001583	missense	6239			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.3296C>T	6.37:g.7231628C>T	ENSP00000305560:p.Thr1099Met		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	4.189	0.033643	0.08101	0.0	1.16E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11063	2.94;2.91;2.94;2.81	5.46	1.07	0.20283	.	2.026260	0.02349	N	0.075710	T	0.03348	0.0097	L	0.40543	1.245	0.09310	N	1	B;B;B	0.30482	0.07;0.185;0.281	B;B;B	0.18871	0.023;0.01;0.023	T	0.41431	-0.9509	10	0.34782	T	0.22	-0.0059	10.8935	0.47008	0.0:0.6928:0.0:0.3072	.	1099;1099;1099	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	1099	ENSP00000369265:T1099M;ENSP00000369270:T1099M;ENSP00000305560:T1099M;ENSP00000335574:T1099M	ENSP00000335574:T1099M	T	+	2	0	RREB1	7176627	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.435000	0.21510	0.258000	0.21686	-0.150000	0.13652	ACG		0.627	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7231628	C	T	7231628	3	4	43	1	0	0	0	0	1	0	0	0	13679	536	19	1	3322	1	RREB1	6	7231628	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3381510	7231628	163883439	298	3475											
RREB1	6239	hgsc.bcm.edu	37	chr6	7247005	7247005	+	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	cgaggcaggcgccgggggcgCggcctcgcaggagcagaagc	7	1	20	13	6	0	1	0	0	0	1	1	3	0	2	2	6	2	3	2	6	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7247005C>T	ENST00000349384.6	+	11	4471	c.4157C>T	c.(4156-4158)gCg>gTg	p.A1386V	RREB1_ENST00000379933.3_Missense_Mutation_p.A1386V|RREB1_ENST00000379938.2_Missense_Mutation_p.A1441V|RREB1_ENST00000334984.6_Intron	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1386					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)				GCCGGGGGCGCGGCCTCGCAG	0.697																																						.											0													8	10	9					6																	7247005		2067	4045	6112	SO:0001583	missense	6239			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.4157C>T	6.37:g.7247005C>T	ENSP00000305560:p.Ala1386Val		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	8.342	0.828815	0.16749	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.09538	2.99;2.97;2.99	5.69	2.95	0.34219	.	1.656210	0.03303	N	0.189369	T	0.02083	0.0065	N	0.16478	0.41	0.33650	D	0.608334	B;P	0.36378	0.414;0.55	B;B	0.25614	0.028;0.062	T	0.29366	-1.0014	10	0.28530	T	0.3	-0.0137	8.7629	0.34685	0.0:0.548:0.31:0.1419	.	1386;1441	Q92766;Q92766-2	RREB1_HUMAN;.	V	1386;1441;1386	ENSP00000369265:A1386V;ENSP00000369270:A1441V;ENSP00000305560:A1386V	ENSP00000305560:A1386V	A	+	2	0	RREB1	7192004	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.113000	0.15499	0.340000	0.23745	-0.122000	0.15005	GCG		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7247005	C	T	7247005	3	4	43	1	0	0	0	0	1	0	0	0	13679	768	27	1	4356	1	RREB1	6	7247005	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	15377	7247005	163868062	299	3476											
DSP	1832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	7580988	7580988	+	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	gaaagcaaacagtagtgcgaCggagacaataaacaaactga	20	4	10	7	2	0	2	0	1	0	1	0	5	0	2	0	1	5	2	0	1	7	2	rs375150075		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7580988C>T	ENST00000379802.3	+	23	4906	c.4565C>T	c.(4564-4566)aCg>aTg	p.T1522M	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1522	Central fibrous rod domain.				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)		AGTAGTGCGACGGAGACAATA	0.473																																						.											0								C	,MET/THR	1,4405	2.1+/-5.4	0,1,2202	119	118	118		,4565	4.1	0	6		118	0,8600		0,0,4300	no	intron,missense	DSP	NM_001008844.1,NM_004415.2	,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,1522/2872	7580988	1,13005	2203	4300	6503	SO:0001583	missense	1832			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.4565C>T	6.37:g.7580988C>T	ENSP00000369129:p.Thr1522Met		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	0.509	-0.867174	0.02590	2.27E-4	0.0	ENSG00000096696	ENST00000379802	T	0.71579	-0.58	5.85	4.09	0.47781	.	0.376063	0.25711	N	0.028804	T	0.44705	0.1306	L	0.43152	1.355	0.09310	N	0.999991	B	0.31968	0.349	B	0.28916	0.096	T	0.37596	-0.9699	10	0.54805	T	0.06	.	12.5287	0.56102	0.0:0.8653:0.0:0.1347	.	1522	P15924	DESP_HUMAN	M	1522	ENSP00000369129:T1522M	ENSP00000369129:T1522M	T	+	2	0	DSP	7525987	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	1.064000	0.30579	0.828000	0.34709	-0.137000	0.14449	ACG		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7580988	C	T	7580988	3	4	43	1	0	0	0	0	1	0	0	0	4781	536	19	1	4655	1	DSP	6	7580988	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	333983	7580988	163534079	300	3477											
TBC1D7	51256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	13321234	13321234	+	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	gtgtggcatcactaacaaagCgaacgactttcagggcatga	13	8	11	9	2	2	1	2	1	0	0	2	3	2	1	0	2	3	2	0	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:13321234C>T	ENST00000379300.3	-	4	530	c.287G>A	c.(286-288)cGc>cAc	p.R96H	TBC1D7_ENST00000356436.4_Missense_Mutation_p.R96H|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R69H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R69H|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R96H|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	96	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			ACTAACAAAGCGAACGACTTT	0.498																																						.											0													293	257	269					6																	13321234		2203	4300	6503	SO:0001583	missense	51256			AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.287G>A	6.37:g.13321234C>T	ENSP00000368602:p.Arg96His		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791100	0.50102	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	2.22;2.22;2.22;1.24;1.35;1.25;1.25;2.22;1.22;1.2;2.22;2.22;0.73	5.85	4.99	0.66335	Rab-GAP/TBC domain (1);	0.044377	0.85682	D	0.000000	T	0.26122	0.0637	M	0.64567	1.98	0.54753	D	0.999987	P;P;B;B;B	0.38642	0.501;0.641;0.066;0.32;0.092	B;B;B;B;B	0.29942	0.109;0.109;0.008;0.081;0.01	T	0.22941	-1.0202	10	0.56958	D	0.05	-10.901	10.0772	0.42368	0.0:0.8495:0.0:0.1505	.	96;69;69;69;96	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	H	37;96;96;96;69;96;69;69;96;69;69;96;96;96	ENSP00000401438:R96H;ENSP00000348813:R96H;ENSP00000368602:R96H;ENSP00000368609:R69H;ENSP00000343100:R96H;ENSP00000414292:R69H;ENSP00000404680:R69H;ENSP00000394425:R96H;ENSP00000417005:R69H;ENSP00000412102:R69H;ENSP00000414101:R96H;ENSP00000401339:R96H;ENSP00000368593:R96H	ENSP00000334212:R37H	R	-	2	0	TBC1D7	13429213	1.000000	0.71417	0.920000	0.36463	0.645000	0.38454	5.699000	0.68310	1.499000	0.48617	0.555000	0.69702	CGC		0.498	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		T	13321234	C	T	13321234	3	4	43	1	0	0	0	0	1	0	0	0	15621	768	27	1	614	1	TBC1D7	6	13321234	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5740246	13321234	157793833	301	3478											
HIST1H3C	8352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	26045706	26045706	+	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	tccgcgcaagcagcttgctaCtaaagcagcccgtaagagcg	11	6	11	13	4	0	1	0	0	0	1	1	1	1	1	2	0	7	6	2	0	5	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:26045706C>T	ENST00000540144.1	+	1	68	c.68C>T	c.(67-69)aCt>aTt	p.T23I	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	23					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						CAGCTTGCTACTAAAGCAGCC	0.587																																						.											0													38	42	41					6																	26045706		2203	4300	6503	SO:0001583	missense	8352			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.68C>T	6.37:g.26045706C>T	ENSP00000439493:p.Thr23Ile		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407551	0.25378	.	.	ENSG00000196532	ENST00000540144	T	0.48836	0.8	4.67	4.67	0.58626	.	.	.	.	.	T	0.59770	0.2218	.	.	.	0.43824	D	0.996397	.	.	.	.	.	.	T	0.65249	-0.6214	6	0.87932	D	0	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	I	23	ENSP00000439493:T23I	ENSP00000439493:T23I	T	+	2	0	HIST1H3C	26153685	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	7.682000	0.84083	2.529000	0.85273	0.591000	0.81541	ACT		0.587	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		T	26045706	C	T	26045706	3	4	43	1	0	0	0	0	1	0	0	0	7157	565	20	4	70	4	HIST1H3C	6	26045706	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12724472	26045706	145069361	302	3479											
HIST1H1T	3010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	26108074	26108074	+	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	tcttgagggacagtttgatgCggctgttattcttctctacg	6	16	11	8	2	3	2	0	2	3	0	4	3	3	3	0	2	2	3	0	2	2	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:26108074C>T	ENST00000338379.4	-	1	290	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	83	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CAGTTTGATGCGGCTGTTATT	0.502																																						.											0													119	118	118					6																	26108074		2203	4300	6503	SO:0001583	missense	3010			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.248G>A	6.37:g.26108074C>T	ENSP00000341214:p.Arg83His		Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	18.33	3.600291	0.66332	.	.	ENSG00000187475	ENST00000338379	T	0.10382	2.88	5.53	4.67	0.58626	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.55481	1.735	0.49051	D	0.999744	D	0.60160	0.987	D	0.65140	0.932	T	0.00773	-1.1572	10	0.59425	D	0.04	-14.1027	13.622	0.62143	0.0:0.9264:0.0:0.0736	.	83	P22492	H1T_HUMAN	H	83	ENSP00000341214:R83H	ENSP00000341214:R83H	R	-	2	0	HIST1H1T	26216053	1.000000	0.71417	0.995000	0.50966	0.018000	0.09664	2.499000	0.45372	1.583000	0.49898	0.655000	0.94253	CGC		0.502	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		T	26108074	C	T	26108074	3	4	43	1	0	0	0	0	1	0	0	0	7127	768	27	1	379	1	HIST1H1T	6	26108074	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	62368	26108074	145006993	303	3480											
UBD	10537	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	29524017	29524017	+	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	cccagcaaaagaacctggtcCtgcacaggaaccttggtctt	11	8	9	13	0	1	1	0	0	1	1	2	2	2	2	4	3	4	2	4	3	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:29524017C>A	ENST00000377050.4	-	2	361	c.138G>T	c.(136-138)caG>caT	p.Q46H	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	46	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						GAACCTGGTCCTGCACAGGAA	0.463																																						.											0													82	68	73					6																	29524017		1511	2709	4220	SO:0001583	missense	10537			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.138G>T	6.37:g.29524017C>A	ENSP00000366249:p.Gln46His		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173002	0.57584	.	.	ENSG00000213886	ENST00000377050	T	0.72725	-0.68	5.17	3.03	0.35002	Ubiquitin supergroup (1);Ubiquitin (2);	0.268702	0.18643	U	0.135240	T	0.48943	0.1528	L	0.36672	1.1	0.80722	D	1	P	0.47484	0.896	P	0.44673	0.457	T	0.55153	-0.8185	10	0.87932	D	0	-14.0263	7.8356	0.29368	0.0:0.7767:0.0:0.2233	.	46	O15205	UBD_HUMAN	H	46	ENSP00000366249:Q46H	ENSP00000366249:Q46H	Q	-	3	2	UBD	29631996	0.001000	0.12720	0.989000	0.46669	0.707000	0.40811	-0.805000	0.04530	1.162000	0.42619	0.609000	0.83330	CAG		0.463	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			A	29524017	C	A	29524017	3	1	43	1	0	0	0	0	1	0	0	0	16840	680	24	5	363	5	UBD	6	29524017	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3415943	29524017	141591050	304	3481											
DDR1	780	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr6	30864435	30864435	+	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	atggagcctgagaagccaggCgccccgcttctgcccccacc	7	5	11	18	2	1	1	0	1	1	1	1	3	1	2	7	2	3	1	7	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:30864435C>T	ENST00000324771.8	+	15	2210	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G	DDR1_ENST00000376567.2_Silent_p.G517G|DDR1_ENST00000452441.1_Silent_p.G554G|DDR1_ENST00000513240.1_Silent_p.G554G|DDR1_ENST00000376569.3_Silent_p.G517G|DDR1_ENST00000508312.1_Silent_p.G535G|DDR1_ENST00000376570.4_Silent_p.G517G|DDR1_ENST00000376575.3_Silent_p.G554G|DDR1_ENST00000376568.3_Silent_p.G554G|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Silent_p.G517G|DDR1_ENST00000418800.2_Silent_p.G517G|DDR1_ENST00000361741.4_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	554	Gly/Pro-rich.				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)	AGAAGCCAGGCGCCCCGCTTC	0.607																																						.											0													42	49	46					6																	30864435		2203	4300	6503	SO:0001819	synonymous_variant	780			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.1662C>T	6.37:g.30864435C>T			B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.907010	0.17833	.	.	ENSG00000204580	ENST00000514434	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.36146	D	0.847148	.	.	.	.	.	.	T	0.46414	-0.9193	4	.	.	.	.	8.6903	0.34262	0.0:0.4028:0.189:0.4082	.	.	.	.	C	46	.	.	R	+	1	0	DDR1	30972414	0.001000	0.12720	0.144000	0.22314	0.963000	0.63663	-2.977000	0.00664	-1.503000	0.01812	-1.384000	0.01168	CGC		0.607	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		T	30864435	C	T	30864435	2	4	43	1	0	0	0	0	0	0	0	1	4336	755	27	1		1	DDR1	6	30864435	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1340418	30864435	140250632	305	3482											
HLA-B	3106	mdanderson.org	37	chr6	31324176	31324176	+	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	ccgcggaggaggcgcccgtcCggccccacgtcgcagccgta	5	3	15	18	8	0	0	0	0	0	0	2	2	1	2	6	4	1	2	6	4	1	1	rs12721836	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:31324176C>G	ENST00000412585.2	-	3	415	c.387G>C	c.(385-387)ccG>ccC	p.P129P		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	129	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCGCCCGTCCGGCCCCACGT	0.731									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0													20	17	18					6																	31324176		1973	4106	6079	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.387G>C	6.37:g.31324176C>G			Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.731	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		G	31324176	C	G	31324176	2	3	43	1	0	0	0	0	0	0	0	1	7196	639	23	5		5	HLA-B	6	31324176	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	459741	31324176	139790891	306	3483											
MICB	4277	bcgsc.ca	37	chr6	31475183	31475183	+	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	tccctttttttcagggaaggCgctggtgcttcagagtcaac	7	13	11	10	1	3	1	3	0	0	1	4	2	4	2	1	3	2	2	1	3	2	4	rs45470602	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:31475183C>T	ENST00000252229.6	+	5	978	c.899C>T	c.(898-900)gCg>gTg	p.A300V	MICB_ENST00000538442.1_Missense_Mutation_p.A268V|MICB_ENST00000399150.3_Missense_Mutation_p.A257V	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						TCAGGGAAGGCGCTGGTGCTT	0.498													c|||	12	0.00239617	0.0083	0	5008	,	,		21752	0		0.001	False		,,,				2504	0					.											0								C	VAL/ALA	31,3891		0,31,1930	127	127	127		899	-0.7	0	6	dbSNP_127	127	0,8294		0,0,4147	yes	missense	MICB	NM_005931.3	64	0,31,6077	TT,TC,CC		0.0,0.7904,0.2538	benign	300/384	31475183	31,12185	1961	4147	6108	SO:0001583	missense	4277				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.899C>T	6.37:g.31475183C>T	ENSP00000252229:p.Ala300Val			Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	0	0.0	1	0.0013192612137203166	-	0.014	-1.587280	0.00872	0.007904	0.0	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00816	5.66;5.78;5.76	1.33	-0.662	0.11413	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.29336	-1.0015	8	0.28530	T	0.3	.	4.7187	0.12909	0.0:0.674:0.0:0.326	rs45470602	268;257	F5H7Q8;A2AC57	.;.	V	268;257;300	ENSP00000442345:A268V;ENSP00000382103:A257V;ENSP00000252229:A300V	ENSP00000252229:A300V	A	+	2	0	MICB	31583162	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.586000	0.05787	-0.269000	0.09298	-1.358000	0.01219	GCG		0.498	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		T	31475183	C	T	31475183	3	4	43	1	0	0	0	0	1	0	0	0	9575	768	27	1	917	1	MICB	6	31475183	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	151007	31475183	139639884	307	3484											
SLC39A7	7922	ucsc.edu;mdanderson.org	37	chr6	33169433	33169433	+	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	gctgtcactctctgggcttaTgtgagtctccaggggatggg	5	12	15	9	0	3	1	1	1	2	0	5	2	3	2	1	4	0	2	1	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:33169433T>C	ENST00000374677.3	+	1	784	c.411T>C	c.(409-411)taT>taC	p.Y137Y	HSD17B8_ENST00000374662.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Splice_Site_p.Y137Y|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	137					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTGGGCTTATGTGAGTCTCC	0.572																																						.											0													53	53	53					6																	33169433		2021	4191	6212	SO:0001630	splice_region_variant	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.411+1T>C	6.37:g.33169433T>C			B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	CCDS43453.1																																																																																				0.572	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	Silent	C	33169433	T	C	33169433	5	2	43	1	0	0	0	0	0	0	1	0	14623	1478	51	4	413	4	SLC39A7	6	33169433	Splice_Site	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1694250	33169433	137945634	308	3485											
MDGA1	266727	hgsc.bcm.edu	37	chr6	37618098	37618098	+	Missense_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	tggcggccgcggcttgccccGcacctcgcattgcagctcgg	3	7	14	17	6	0	0	0	0	0	0	2	0	0	0	4	4	3	5	4	4	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:37618098G>A	ENST00000434837.3	-	8	2574	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	MDGA1_ENST00000297153.7_Missense_Mutation_p.R466W|MDGA1_ENST00000505425.1_Missense_Mutation_p.R466W|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	466	Ig-like 5.				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						GGCTTGCCCCGCACCTCGCAT	0.706																																						.											0													7	10	9					6																	37618098		2028	4132	6160	SO:0001583	missense	266727			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.1396C>T	6.37:g.37618098G>A	ENSP00000402584:p.Arg466Trp		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056466	0.76074	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.68025	-0.3;-0.3;-0.3	3.69	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37012	N	0.002289	T	0.67183	0.2866	L	0.43757	1.38	0.38348	D	0.944243	D	0.89917	1.0	D	0.69824	0.966	T	0.72064	-0.4403	10	0.66056	D	0.02	.	12.7081	0.57073	0.0:0.0:1.0:0.0	.	466	Q8NFP4	MDGA1_HUMAN	W	466	ENSP00000402584:R466W;ENSP00000297153:R466W;ENSP00000422042:R466W	ENSP00000297153:R466W	R	-	1	2	MDGA1	37726076	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	4.821000	0.62679	1.893000	0.54813	0.407000	0.27541	CGG		0.706	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			A	37618098	G	A	37618098	3	1	43	1	0	0	0	0	1	0	0	0	9406	1086	38	1	1511	1	MDGA1	6	37618098	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4448665	37618098	133496969	309	3486											
DNAH8	1769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	38773263	38773263	+	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	tcttttgtctatagaacagcGgaaacacgttgtttttggaa	11	15	9	6	2	2	1	0	0	2	1	2	3	2	3	0	2	3	2	0	2	5	7	rs375687323		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:38773263G>A	ENST00000359357.3	+	21	2644	c.2390G>A	c.(2389-2391)cGg>cAg	p.R797Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1014Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R797Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	797					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						ATAGAACAGCGGAAACACGTT	0.328																																						.											0								G	GLN/ARG	0,4406		0,0,2203	100	95	97		3041	2.7	0.9	6		97	3,8597	3.0+/-9.4	0,3,4297	no	missense	DNAH8	NM_001206927.1	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1014/4708	38773263	3,13003	2203	4300	6503	SO:0001583	missense	1769			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.2390G>A	6.37:g.38773263G>A	ENSP00000352312:p.Arg797Gln		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	9.880	1.201280	0.22121	0.0	3.49E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24151	1.9;1.89;1.87	5.45	2.68	0.31781	.	0.435915	0.21628	N	0.071528	T	0.01976	0.0062	N	0.00926	-1.1	0.24700	N	0.993261	B	0.17667	0.023	B	0.09377	0.004	T	0.47983	-0.9074	10	0.12103	T	0.63	.	9.4369	0.38643	0.2346:0.0:0.7654:0.0	.	797	Q96JB1	DYH8_HUMAN	Q	1002;1002;797;797	ENSP00000333363:R1002Q;ENSP00000352312:R797Q;ENSP00000402294:R797Q	ENSP00000333363:R1002Q	R	+	2	0	DNAH8	38881241	0.994000	0.37717	0.925000	0.36789	0.902000	0.53008	0.766000	0.26560	0.797000	0.33971	0.655000	0.94253	CGG		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38773263	G	A	38773263	3	1	43	1	0	0	0	0	1	0	0	0	4607	1116	39	1	2464	1	DNAH8	6	38773263	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1155165	38773263	132341804	310	3487											
USP49	25862	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr6	41767668	41767668	+	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	gggtttgggattggattttcGtcgtttgcctatgtggtttg	3	19	15	4	2	0	0	0	0	0	0	2	2	0	2	1	4	1	3	1	4	1	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:41767668G>A	ENST00000394253.3	-	5	1899	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	USP49_ENST00000297229.2_Nonsense_Mutation_p.R524*|USP49_ENST00000373006.1_Nonsense_Mutation_p.R524*|USP49_ENST00000373009.3_Nonsense_Mutation_p.R524*|USP49_ENST00000373010.1_Nonsense_Mutation_p.R524*			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	524	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGGATTTTCGTCGTTTGCCT	0.433																																						.											0													196	182	187					6																	41767668		2203	4300	6503	SO:0001587	stop_gained	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1570C>T	6.37:g.41767668G>A	ENSP00000377797:p.Arg524*		Q5T3D9|Q5T3E0|Q96CK4	Nonsense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	G	40	8.030610	0.98619	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.67	4.81	0.61882	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1102	9.2025	0.37268	0.0736:0.0:0.7818:0.1446	.	.	.	.	X	524	.	ENSP00000297229:R524X	R	-	1	2	USP49	41875646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.391000	0.66266	1.416000	0.47057	0.655000	0.94253	CGA		0.433	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		A	41767668	G	A	41767668	4	1	43	1	0	0	0	0	0	1	0	0	17077	1153	40	1	360	1	USP49	6	41767668	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2994405	41767668	129347399	311	3488											
UBR2	23304	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	42641562	42641562	+	Missense_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	ggtcattgacgagatttgccGcagcacactggacagtggca	10	8	13	10	2	1	2	1	1	0	1	1	4	1	3	1	3	2	3	1	3	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:42641562G>A	ENST00000372899.1	+	37	4378	c.4120G>A	c.(4120-4122)Gca>Aca	p.A1374T	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.A1374T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1374					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)			GAGATTTGCCGCAGCACACTG	0.353																																						.											0													150	131	138					6																	42641562		2203	4300	6503	SO:0001583	missense	23304			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.4120G>A	6.37:g.42641562G>A	ENSP00000361990:p.Ala1374Thr		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254407	0.39896	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.57595	0.39;0.39	5.27	4.39	0.52855	.	0.231094	0.45126	D	0.000387	T	0.26340	0.0643	L	0.42245	1.32	0.80722	D	1	B;B	0.27951	0.06;0.195	B;B	0.24394	0.023;0.053	T	0.07654	-1.0761	10	0.22109	T	0.4	-30.9545	13.6138	0.62094	0.0:0.0:0.719:0.281	.	1374;1374	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	T	1374	ENSP00000361990:A1374T;ENSP00000361992:A1374T	ENSP00000361990:A1374T	A	+	1	0	UBR2	42749540	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	2.869000	0.48444	1.196000	0.43129	-0.314000	0.08810	GCA		0.353	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42641562	G	A	42641562	3	1	43	1	0	0	0	0	1	0	0	0	16899	1087	38	1	4412	1	UBR2	6	42641562	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	873894	42641562	128473505	312	3489											
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	43164505	43164505	+	Missense_Mutation	SNP	T	T	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	gttgtttaggcactcagggaTagcaccaagaacagaaccta	14	8	10	9	0	1	2	1	0	0	2	1	3	1	3	2	2	3	4	2	2	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43164505T>C	ENST00000252050.4	+	11	2792	c.2708T>C	c.(2707-2709)aTa>aCa	p.I903T	CUL9_ENST00000354495.3_Missense_Mutation_p.I793T|CUL9_ENST00000372647.2_Missense_Mutation_p.I903T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	903					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						CACTCAGGGATAGCACCAAGA	0.537																																						.											0													198	164	175					6																	43164505		2203	4300	6503	SO:0001583	missense	23113			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.2708T>C	6.37:g.43164505T>C	ENSP00000252050:p.Ile903Thr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898417	0.33535	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72394	-0.65;-0.65;-0.54	5.08	3.86	0.44501	Armadillo-type fold (1);	1.226840	0.05326	N	0.527436	T	0.34221	0.0890	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.33379	0.038;0.41;0.41	B;B;B	0.25614	0.006;0.062;0.062	T	0.11203	-1.0597	10	0.21014	T	0.42	-4.0112	9.0056	0.36109	0.0:0.0:0.1852:0.8148	.	793;903;903	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	903;793;903	ENSP00000252050:I903T;ENSP00000346490:I793T;ENSP00000361730:I903T	ENSP00000252050:I903T	I	+	2	0	CUL9	43272483	0.127000	0.22367	0.848000	0.33437	0.492000	0.33523	2.030000	0.41108	2.146000	0.66826	0.533000	0.62120	ATA		0.537	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		C	43164505	T	C	43164505	3	2	43	1	0	0	0	0	1	0	0	0	4061	1406	49	4	2746	4	CUL9	6	43164505	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	522943	43164505	127950562	313	3490											
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	43309889	43309889	+	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	cttgtcagtgcgctttatggCatcttgcttggcctcactct	4	16	9	12	1	4	0	2	0	2	0	4	0	4	0	1	2	2	3	1	2	1	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43309889C>T	ENST00000361428.2	-	8	3414	c.3337G>A	c.(3337-3339)Gcc>Acc	p.A1113T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1113					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CGCTTTATGGCATCTTGCTTG	0.468																																						.											0													229	182	198					6																	43309889		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3337G>A	6.37:g.43309889C>T	ENSP00000354964:p.Ala1113Thr		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097997	0.20552	.	.	ENSG00000171467	ENST00000361428	T	0.11495	2.77	5.9	-2.06	0.07298	.	0.784196	0.12292	N	0.481978	T	0.01800	0.0057	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47235	-0.9133	10	0.12103	T	0.63	-0.731	3.3182	0.07040	0.1321:0.2018:0.1162:0.5499	.	1113	Q5VUA4	ZN318_HUMAN	T	1113	ENSP00000354964:A1113T	ENSP00000354964:A1113T	A	-	1	0	ZNF318	43417867	0.015000	0.18098	0.354000	0.25760	0.924000	0.55760	0.041000	0.13927	-0.086000	0.12550	0.563000	0.77884	GCC		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43309889	C	T	43309889	3	4	43	1	0	0	0	0	1	0	0	0	17833	710	25	4	3514	4	ZNF318	6	43309889	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	145384	43309889	127805178	314	3491											
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	43323076	43323076	+	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	atctgaggaacgtcgatcagCtgagaagcagtggtcaactg	12	8	13	8	2	3	2	2	2	1	1	4	5	3	3	0	2	4	2	0	2	3	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43323076C>A	ENST00000361428.2	-	4	2073	c.1996G>T	c.(1996-1998)Gct>Tct	p.A666S	ZNF318_ENST00000318149.3_Missense_Mutation_p.A666S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	666					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CGTCGATCAGCTGAGAAGCAG	0.547																																						.											0													152	118	130					6																	43323076		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1996G>T	6.37:g.43323076C>A	ENSP00000354964:p.Ala666Ser		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	3.285	-0.146181	0.06627	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.30714	1.52;2.82	3.9	-0.753	0.11068	.	0.375070	0.21947	N	0.066800	T	0.02888	0.0086	N	0.04508	-0.205	0.28921	N	0.892149	B	0.18166	0.026	B	0.16289	0.015	T	0.44922	-0.9296	10	0.07644	T	0.81	-0.7498	8.3459	0.32272	0.3916:0.5317:0.0:0.0767	.	666	Q5VUA4	ZN318_HUMAN	S	666	ENSP00000323032:A666S;ENSP00000354964:A666S	ENSP00000323032:A666S	A	-	1	0	ZNF318	43431054	0.995000	0.38212	0.978000	0.43139	0.717000	0.41224	0.646000	0.24797	0.026000	0.15269	0.306000	0.20318	GCT		0.547	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		A	43323076	C	A	43323076	3	1	43	1	0	0	0	0	1	0	0	0	17833	797	28	5	4871	5	ZNF318	6	43323076	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	13187	43323076	127791991	315	3492											
ABCC10	89845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	43415467	43415467	+	Missense_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	ggggcgtggagttccaggacGtggtgttggcgtaccggcca	5	8	19	9	4	0	0	0	0	0	0	1	2	1	2	3	7	1	3	3	7	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43415467G>A	ENST00000372530.4	+	18	3966	c.3751G>A	c.(3751-3753)Gtg>Atg	p.V1251M	ABCC10_ENST00000244533.3_Missense_Mutation_p.V1223M	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1251	ABC transporter 2. {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)	GTTCCAGGACGTGGTGTTGGC	0.662																																						.											0													141	152	148					6																	43415467		2203	4300	6503	SO:0001583	missense	89845			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.3751G>A	6.37:g.43415467G>A	ENSP00000361608:p.Val1251Met		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204917	0.95033	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.92446	-3.04;-3.04	5.61	5.61	0.85477	ABC transporter-like (1);	0.065822	0.64402	D	0.000010	D	0.95906	0.8667	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.75020	0.985;0.866	D	0.95443	0.8527	10	0.56958	D	0.05	-37.1139	19.6398	0.95753	0.0:0.0:1.0:0.0	.	1223;1251	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	M	1251;1223;2	ENSP00000361608:V1251M;ENSP00000244533:V1223M	ENSP00000244533:V1223M	V	+	1	0	ABCC10	43523445	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	9.862000	0.99564	2.641000	0.89580	0.591000	0.81541	GTG		0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43415467	G	A	43415467	3	1	43	1	0	0	0	0	1	0	0	0	50	1145	40	1	3729	1	ABCC10	6	43415467	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	92391	43415467	127699600	316	3493											
SPATS1	221409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr6	44329698	44329698	+	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	aggtctctatcagagaggacGgtggacaagtgctttgggag	10	9	16	6	1	2	1	1	0	1	1	3	5	2	4	0	5	1	1	0	5	2	2	rs371949352		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:44329698G>A	ENST00000288390.2	+	4	890	c.543G>A	c.(541-543)acG>acA	p.T181T	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Silent_p.T181T			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	181										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGAGAGGACGGTGGACAAGT	0.498																																						.											0								G		2,4404	2.1+/-5.4	0,2,2201	188	181	183		543	-7.9	0.1	6		183	0,8600		0,0,4300	no	coding-synonymous	SPATS1	NM_145026.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		181/301	44329698	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221409			AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.543G>A	6.37:g.44329698G>A			Q496A2|Q496A5|Q96LJ0	Silent	SNP	ENST00000288390.2	37	CCDS4911.1																																																																																				0.498	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		A	44329698	G	A	44329698	2	1	43	1	0	0	0	0	0	0	0	1	15017	1103	39	1		1	SPATS1	6	44329698	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	914231	44329698	126785369	317	3494											
SUPT3H	8464	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	45290634	45290634	+	Missense_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	acctgtcaaagttgaagaacGttgttccaaagaccaccatg	14	9	8	10	1	1	3	1	1	0	2	2	3	2	3	4	0	1	3	4	0	4	3	rs9472463	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:45290634G>A	ENST00000371460.1	-	3	337	c.20C>T	c.(19-21)aCg>aTg	p.T7M	SUPT3H_ENST00000371461.2_Missense_Mutation_p.T7M|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000459689.1_Intron	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	0					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						GTTGAAGAACGTTGTTCCAAA	0.413													G|||	23	0.00459265	8e-04	0.0029	5008	,	,		16239	0		0.0179	False		,,,				2504	0.002					.											0								G	,MET/THR	16,4390	24.3+/-50.5	0,16,2187	108	95	99		,20	4.3	1	6	dbSNP_119	99	133,8467	67.0+/-129.4	1,131,4168	yes	intron,missense	SUPT3H	NM_003599.2,NM_181356.1	,81	1,147,6355	AA,AG,GG		1.5465,0.3631,1.1456	,	,7/329	45290634	149,12857	2203	4300	6503	SO:0001583	missense	8464			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	ENST00000371460.1:c.20C>T	6.37:g.45290634G>A	ENSP00000360515:p.Thr7Met		A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371460.1	37	CCDS34466.1	17	0.007783882783882784	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	14	0.018469656992084433	G	14.57	2.574496	0.45902	0.003631	0.015465	ENSG00000196284	ENST00000371460;ENST00000371461	T;T	0.48836	0.8;0.8	5.23	4.34	0.51931	.	1.633690	0.03317	N	0.191370	T	0.22044	0.0531	.	.	.	0.27760	N	0.94385	B	0.12013	0.005	B	0.14023	0.01	T	0.18398	-1.0338	9	0.87932	D	0	.	8.3299	0.32180	0.08:0.0:0.7657:0.1543	rs9472463;rs52806481;rs56415076;rs9472463	7	O75486-3	.	M	7	ENSP00000360515:T7M;ENSP00000360516:T7M	ENSP00000360515:T7M	T	-	2	0	SUPT3H	45398612	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	2.849000	0.48286	1.293000	0.44690	0.557000	0.71058	ACG		0.413	SUPT3H-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106910.3	NM_181356		A	45290634	G	A	45290634	3	1	43	1	0	0	0	0	1	0	0	0	15394	1145	40	1	1010	1	SUPT3H	6	45290634	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	960936	45290634	125824433	318	3495											
RUNX2	860	mdanderson.org	37	chr6	45459753	45459753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttagggcgcattcctcAtcccagtatgagagtaggtg	9	12	12	8	1	1	2	1	2	0	1	3	3	3	2	2	2	0	3	2	2	3	5	rs377128508		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:45459753A>G	ENST00000371438.1	+	5	1119	c.761A>G	c.(760-762)cAt>cGt	p.H254R	RUNX2_ENST00000541979.1_Missense_Mutation_p.H322R|RUNX2_ENST00000371432.3_Missense_Mutation_p.H240R|RUNX2_ENST00000465038.2_Missense_Mutation_p.H254R|RUNX2_ENST00000352853.5_Missense_Mutation_p.H322R|RUNX2_ENST00000371436.6_Missense_Mutation_p.H254R|RUNX2_ENST00000359524.5_Missense_Mutation_p.H240R|RUNX2_ENST00000576263.1_Missense_Mutation_p.H254R	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	254	Pro/Ser/Thr-rich.|Required for interaction with FOXO1. {ECO:0000250}.				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						CGCATTCCTCATCCCAGTATG	0.478																																						.											0								A	ARG/HIS,ARG/HIS,ARG/HIS	0,4406		0,0,2203	419	323	356		719,761,761	6	1	6		356	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RUNX2	NM_004348.3,NM_001024630.3,NM_001015051.3	29,29,29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	240/508,254/522,254/500	45459753	1,13005	2203	4300	6503	SO:0001583	missense	860			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.761A>G	6.37:g.45459753A>G	ENSP00000360493:p.His254Arg		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	8.548	0.874842	0.17395	0.0	1.16E-4	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.96745	-4.1;-4.11;-4.11;-4.1;-4.1;-4.09;-4.1	6.03	6.03	0.97812	.	0.054231	0.85682	D	0.000000	D	0.85414	0.5691	N	0.12182	0.205	0.49582	D	0.999807	B;B;B	0.19706	0.029;0.038;0.017	B;B;B	0.19946	0.027;0.01;0.009	T	0.82766	-0.0295	10	0.07644	T	0.81	-8.894	16.5655	0.84588	1.0:0.0:0.0:0.0	.	322;254;240	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	R	254;322;322;254;254;240;240	ENSP00000420707:H254R;ENSP00000319087:H322R;ENSP00000446290:H322R;ENSP00000360493:H254R;ENSP00000360491:H254R;ENSP00000352514:H240R;ENSP00000360486:H240R	ENSP00000319087:H322R	H	+	2	0	RUNX2	45567731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.414000	0.73318	2.302000	0.77476	0.533000	0.62120	CAT		0.478	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		G	45459753	A	G	45459753	3	3	43	1	0	0	0	0	1	0	0	0	13748	217	8	4	795	4	RUNX2	6	45459753	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	169119	45459753	125655314	319	3496											
PKHD1	5314	hgsc.bcm.edu;bcgsc.ca	37	chr6	51695719	51695719	+	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	attgttgtatcctccccagcCttcttcaacaccttgccatg	7	14	5	15	0	2	0	1	0	1	0	4	0	4	0	6	0	3	2	6	0	2	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:51695719C>A	ENST00000371117.3	-	52	8517	c.8242G>T	c.(8242-8244)Ggc>Tgc	p.G2748C	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2748C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2748	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				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)					CCTCCCCAGCCTTCTTCAACA	0.428																																						.											0													120	108	112					6																	51695719		2203	4300	6503	SO:0001583	missense	5314			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.8242G>T	6.37:g.51695719C>A	ENSP00000360158:p.Gly2748Cys		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850298	0.71719	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88431	-2.2;-2.38	5.32	4.45	0.53987	G8 domain (1);	0.000000	0.64402	D	0.000001	D	0.91938	0.7447	M	0.72118	2.19	0.41357	D	0.987406	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92929	0.6362	10	0.72032	D	0.01	.	13.2455	0.60020	0.0:0.9231:0.0:0.0769	.	2748;2748;2748	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	C	2748	ENSP00000360158:G2748C;ENSP00000341097:G2748C	ENSP00000341097:G2748C	G	-	1	0	PKHD1	51803678	1.000000	0.71417	0.853000	0.33588	0.989000	0.77384	5.161000	0.64935	1.220000	0.43490	0.655000	0.94253	GGC		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51695719	C	A	51695719	3	1	43	1	0	0	0	0	1	0	0	0	11971	681	24	5	4085	5	PKHD1	6	51695719	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6235966	51695719	119419348	320	3497											
TINAG	27283	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	54214609	54214609	+	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	gtctgatgggcgaggaaaacGgcatgccacgaagccatgtc	11	6	14	10	3	1	1	0	1	1	0	2	4	1	2	2	3	3	1	2	3	3	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:54214609G>A	ENST00000259782.4	+	7	1091	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	332					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CGAGGAAAACGGCATGCCACG	0.463																																						.											0													154	141	145					6																	54214609		2203	4300	6503	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.995G>A	6.37:g.54214609G>A	ENSP00000259782:p.Arg332Gln		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241226	0.95272	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.83992	-1.79	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.166795	0.41712	D	0.000836	D	0.85626	0.5740	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.80986	-0.1137	10	0.18710	T	0.47	.	17.7085	0.88315	0.0:0.0:1.0:0.0	.	332	Q9UJW2	TINAG_HUMAN	Q	191;332;11	ENSP00000259782:R332Q	ENSP00000259782:R332Q	R	+	2	0	TINAG	54322568	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.653000	0.61462	2.785000	0.95823	0.591000	0.81541	CGG		0.463	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		A	54214609	G	A	54214609	3	1	43	1	0	0	0	0	1	0	0	0	15918	1116	39	1	1021	1	TINAG	6	54214609	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2518890	54214609	116900458	321	3498											
COL21A1	81578	broad.mit.edu	37	chr6	56044473	56044473	+	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	gacgaaggcttgttggcaatAgctctaagttcggcatcttc	9	12	11	9	2	2	0	0	0	2	0	4	2	2	0	0	3	1	6	0	3	4	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:56044473A>G	ENST00000244728.5	-	3	940	c.543T>C	c.(541-543)gcT>gcC	p.A181A	COL21A1_ENST00000535941.1_Silent_p.A181A|COL21A1_ENST00000370819.1_Silent_p.A181A	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	181	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(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)			TGTTGGCAATAGCTCTAAGTT	0.383																																						.											0													88	82	84					6																	56044473		1907	4133	6040	SO:0001819	synonymous_variant	81578			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.543T>C	6.37:g.56044473A>G			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																				0.383	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			G	56044473	A	G	56044473	2	3	43	1	0	0	0	0	0	0	0	1	3680	407	15	2		2	COL21A1	6	56044473	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1829864	56044473	115070594	322	3499											
DST	667	broad.mit.edu	37	chr6	56335939	56335939	+	Missense_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	catcaataaattcctgccgcGttattttcccatcctggtct	8	15	5	13	2	2	0	1	0	1	0	5	0	5	0	4	1	1	1	4	1	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:56335939G>A	ENST00000361203.3	-	90	21333	c.21326C>T	c.(21325-21327)aCg>aTg	p.T7109M	DST_ENST00000446842.2_Missense_Mutation_p.T6894M|DST_ENST00000370769.4_Missense_Mutation_p.T7220M|DST_ENST00000421834.2_Missense_Mutation_p.T5105M|DST_ENST00000244364.6_Missense_Mutation_p.T4806M|DST_ENST00000370754.5_Missense_Mutation_p.T7398M|DST_ENST00000370788.2_Missense_Mutation_p.T5023M|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7218					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)			TTCCTGCCGCGTTATTTTCCC	0.363																																						.											0													64	62	63					6																	56335939		1859	4129	5988	SO:0001583	missense	667			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.21326C>T	6.37:g.56335939G>A	ENSP00000354508:p.Thr7109Met		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	21.7	4.191243	0.78902	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	6.02	6.02	0.97574	EF-hand-like domain (1);	0.000000	0.56097	D	0.000029	D	0.90431	0.7004	H	0.95294	3.65	0.32881	D	0.510558	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;0.999;1.0;0.998	D	0.91704	0.5376	9	0.66056	D	0.02	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	5105;7220;7398;7218;4806	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	M	4806;7398;7220;5105;6894;5023;7109	ENSP00000244364:T4806M;ENSP00000359790:T7398M;ENSP00000359805:T7220M;ENSP00000400883:T5105M;ENSP00000393645:T6894M;ENSP00000359824:T5023M;ENSP00000354508:T7109M	ENSP00000244364:T4806M	T	-	2	0	DST	56443898	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	ACG		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56335939	G	A	56335939	3	1	43	1	0	0	0	0	1	0	0	0	4783	1145	40	1	1134	1	DST	6	56335939	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	291466	56335939	114779128	323	3500											
PHIP	55023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	79711796	79711796	+	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	tacaaaattgttggcatcacGaataagtggccgataatcac	15	10	8	8	2	2	0	2	0	0	0	2	2	2	0	1	2	1	2	1	2	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:79711796G>A	ENST00000275034.4	-	17	1866	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	567					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTGGCATCACGAATAAGTGGC	0.373																																						.											0													118	109	112					6																	79711796		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1699C>T	6.37:g.79711796G>A	ENSP00000275034:p.Arg567Cys		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471484	0.43942	.	.	ENSG00000146247	ENST00000275034	T	0.51071	0.72	5.63	4.76	0.60689	.	0.147419	0.48286	D	0.000199	T	0.67581	0.2908	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.76454	-0.2953	9	.	.	.	-13.6584	13.1967	0.59743	0.0:0.0:0.7104:0.2896	.	567;567	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	567	ENSP00000275034:R567C	.	R	-	1	0	PHIP	79768515	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.358000	0.97109	1.492000	0.48499	-0.175000	0.13238	CGT		0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			A	79711796	G	A	79711796	3	1	43	1	0	0	0	0	1	0	0	0	11842	1058	37	1	3862	1	PHIP	6	79711796	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	23375857	79711796	91403271	324	3501											
TTK	7272	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	80749554	80749554	+	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	atcatgaaattgaatttcccGatattccagagaaagatctt	15	13	6	7	1	2	4	1	2	1	2	4	6	4	4	2	0	0	0	2	0	4	5	rs2230512	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:80749554G>A	ENST00000369798.2	+	19	2383	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	TTK_ENST00000509894.1_Missense_Mutation_p.D757N|TTK_ENST00000230510.3_Missense_Mutation_p.D757N	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	758	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in dbSNP:rs2230512).		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.D742N(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)		TGAATTTCCCGATATTCCAGA	0.269													G|||	11	0.00219649	0.0083	0	5008	,	,		12837	0		0	False		,,,				2504	0					.											1	Substitution - Missense(1)	large_intestine(1)						G	ASN/ASP,ASN/ASP	45,4357	46.7+/-81.2	0,45,2156	54	54	54		2269,2272	4.9	1	6	dbSNP_98	54	0,8578		0,0,4289	yes	missense,missense	TTK	NM_001166691.1,NM_003318.4	23,23	0,45,6445	AA,AG,GG		0.0,1.0223,0.3467	benign,benign	757/857,758/858	80749554	45,12935	2201	4289	6490	SO:0001583	missense	7272				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.2272G>A	6.37:g.80749554G>A	ENSP00000358813:p.Asp758Asn		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.12	1.261975	0.23051	0.010223	0.0	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.74209	-0.82;-0.82;-0.82	5.75	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132776	0.64402	D	0.000002	T	0.46776	0.1410	L	0.41824	1.3	0.49582	D	0.999806	B;P	0.34615	0.073;0.459	B;B	0.29716	0.023;0.106	T	0.50197	-0.8856	10	0.30078	T	0.28	.	9.9745	0.41774	0.153:0.0:0.847:0.0	rs2230512	758;757	P33981;A8K8U5	TTK_HUMAN;.	N	757;757;758	ENSP00000422936:D757N;ENSP00000230510:D757N;ENSP00000358813:D758N	ENSP00000230510:D757N	D	+	1	0	TTK	80806273	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.681000	0.84073	1.424000	0.47217	0.650000	0.86243	GAT		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			A	80749554	G	A	80749554	3	1	43	1	0	0	0	0	1	0	0	0	16717	1058	37	1	2342	1	TTK	6	80749554	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1037758	80749554	90365513	325	3502											
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	86248557	86248557	+	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	tcacatgctcaagacttaccGaaaatcatccaaacttaggc	15	9	5	12	1	3	1	3	0	0	1	4	2	4	1	2	1	3	1	2	1	6	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:86248557G>A	ENST00000314673.3	-	16	1650	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SNX14_ENST00000505648.1_Splice_Site_p.R440W|SNX14_ENST00000346348.3_Intron|SNX14_ENST00000508980.1_Intron|SNX14_ENST00000369627.2_Intron|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	492					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAGACTTACCGAAAATCATCC	0.303																																						.											0													75	74	74					6																	86248557		2203	4298	6501	SO:0001630	splice_region_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1475+1C>T	6.37:g.86248557G>A			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533886	0.85812	.	.	ENSG00000135317	ENST00000314673;ENST00000505648	T;T	0.26660	1.72;1.76	5.86	5.86	0.93980	.	0.416196	0.28790	N	0.014139	T	0.31606	0.0802	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03840	-1.0999	10	0.46703	T	0.11	-8.079	18.7712	0.91893	0.0:0.0:1.0:0.0	.	492;440	Q9Y5W7;Q9Y5W7-3	SNX14_HUMAN;.	W	492;440	ENSP00000313121:R492W;ENSP00000427380:R440W	ENSP00000313121:R492W	R	-	1	2	SNX14	86305276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.878000	0.69682	2.771000	0.95319	0.563000	0.77884	CGG		0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	Missense_Mutation	A	86248557	G	A	86248557	5	1	43	1	0	0	0	0	0	0	1	0	14885	1072	37	1	1422	1	SNX14	6	86248557	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5499003	86248557	84866510	326	3503											
C6orf165	154313	mdanderson.org;bcgsc.ca	37	chr6	88173817	88173817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaattgttcccaagtgtAccctccaaaggacactagca	15	8	7	11	0	0	1	0	0	0	1	2	2	2	2	3	1	2	3	3	1	6	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:88173817A>G	ENST00000507897.1	+	13	1801	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Y573C|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	573										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)		TCCCAAGTGTACCCTCCAAAG	0.473																																						.											0													66	60	62					6																	88173817		2203	4300	6503	SO:0001583	missense	154313			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.1718A>G	6.37:g.88173817A>G	ENSP00000426769:p.Tyr573Cys		A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030745	0.35797	.	.	ENSG00000213204	ENST00000369562	T	0.37752	1.18	5.68	4.5	0.54988	.	0.165538	0.56097	D	0.000028	T	0.47340	0.1440	M	0.75447	2.3	0.52501	D	0.999955	D	0.89917	1.0	D	0.76071	0.987	T	0.50415	-0.8831	10	0.46703	T	0.11	.	12.0793	0.53662	0.871:0.0:0.0:0.129	.	573	Q8IYR0	CF165_HUMAN	C	573	ENSP00000358575:Y573C	ENSP00000358575:Y573C	Y	+	2	0	C6orf165	88230536	1.000000	0.71417	0.298000	0.25002	0.165000	0.22458	4.968000	0.63728	0.955000	0.37878	0.460000	0.39030	TAC		0.473	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		G	88173817	A	G	88173817	3	3	43	1	0	0	0	0	1	0	0	0	2341	391	14	2	1764	2	C6orf165	6	88173817	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1925260	88173817	82941250	327	3504											
CNR1	1268	broad.mit.edu	37	chr6	88853689	88853689	+	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	acactggctgcattgtttgcGtgtttgtgcaggcagtccga	6	13	13	9	2	0	0	0	0	0	0	1	1	1	0	1	2	3	6	1	2	0	3	rs75641625	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:88853689G>A	ENST00000537554.1	-	2	4867	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	CNR1_ENST00000535130.1_Silent_p.H435H|CNR1_ENST00000369499.2_Silent_p.H435H|CNR1_ENST00000428600.2_Silent_p.H435H|CNR1_ENST00000549716.1_Silent_p.H374H|CNR1_ENST00000369501.2_Silent_p.H435H|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Silent_p.H402H|CNR1_ENST00000549890.1_Silent_p.H435H	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	435					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CATTGTTTGCGTGTTTGTGCA	0.557																																						.											0								G	,,,,	1,4405	2.1+/-5.4	0,1,2202	200	180	187		1305,1305,1305,1305,1206	-8.8	0.1	6	dbSNP_131	187	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNR1	NM_001160226.1,NM_001160258.1,NM_001160259.1,NM_016083.4,NM_033181.3	,,,,	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	,,,,	435/473,435/473,435/473,435/473,402/440	88853689	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1305C>T	6.37:g.88853689G>A			B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																				0.557	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			A	88853689	G	A	88853689	2	1	43	1	0	0	0	0	0	0	0	1	3631	1136	40	1		1	CNR1	6	88853689	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	679872	88853689	82261378	328	3505											
ANKRD6	22881	hgsc.bcm.edu;ucsc.edu	37	chr6	90333671	90333671	+	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	ctgcatgctcataatcacccTaaaaagaggaacaggcatcg	15	7	8	11	1	2	1	2	0	0	1	3	2	2	2	1	2	3	3	1	2	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:90333671T>C	ENST00000522441.1	+	12	1754	c.1113T>C	c.(1111-1113)ccT>ccC	p.P371P	LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000369408.5_Silent_p.P336P|ANKRD6_ENST00000447838.2_Silent_p.P371P|ANKRD6_ENST00000520793.1_Silent_p.P312P|ANKRD6_ENST00000339746.4_Silent_p.P371P	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	371					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)		ATAATCACCCTAAAAAGAGGA	0.537																																						.											0													101	106	105					6																	90333671		2078	4216	6294	SO:0001819	synonymous_variant	22881			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.1113T>C	6.37:g.90333671T>C			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	CCDS56441.1																																																																																				0.537	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			C	90333671	T	C	90333671	2	2	43	1	0	0	0	0	0	0	0	1	685	1509	53	2		2	ANKRD6	6	90333671	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1479982	90333671	80781396	329	3506											
BACH2	60468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr6	90661558	90661558	+	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	gtgtaggcaaactgtaacagCggcccaaagcccctggctgt	10	7	12	12	1	0	0	0	0	0	0	0	0	0	0	3	3	4	4	3	3	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:90661558C>T	ENST00000257749.4	-	7	974	c.267G>A	c.(265-267)ccG>ccA	p.P89P	BACH2_ENST00000343122.3_Silent_p.P89P|BACH2_ENST00000537989.1_Silent_p.P89P|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|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 negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGTAACAGCGGCCCAAAGC	0.527																																						.											0													46	46	46					6																	90661558		2202	4297	6499	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.267G>A	6.37:g.90661558C>T			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																				0.527	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		T	90661558	C	T	90661558	2	4	43	1	0	0	0	0	0	0	0	1	1284	755	27	1		1	BACH2	6	90661558	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	327887	90661558	80453509	330	3507											
MAP3K7	6885	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	91261815	91261815	+	Missense_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	aatttcctccattgaagggcGctgggaaggatctttagacc	10	11	11	9	1	1	2	0	1	1	1	3	4	3	4	3	3	0	1	3	3	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:91261815G>A	ENST00000369329.3	-	8	981	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R274C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R274C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R274C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	274	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)		ATTGAAGGGCGCTGGGAAGGA	0.413																																						.											0													125	121	122					6																	91261815		2203	4300	6503	SO:0001583	missense	6885			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.820C>T	6.37:g.91261815G>A	ENSP00000358335:p.Arg274Cys		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400848	0.83120	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.109878	0.64402	D	0.000005	D	0.93288	0.7861	H	0.99668	4.69	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	0.95357	0.8452	10	0.87932	D	0	.	15.1047	0.72312	0.0:0.0:0.8584:0.1416	.	274;274;274;274	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	C	274;274;274;274;201	ENSP00000358338:R274C;ENSP00000358335:R274C;ENSP00000358331:R274C;ENSP00000358333:R274C	ENSP00000358331:R274C	R	-	1	0	MAP3K7	91318536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	2.880000	0.98712	0.650000	0.86243	CGC		0.413	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		A	91261815	G	A	91261815	3	1	43	1	0	0	0	0	1	0	0	0	9255	1087	38	1	1040	1	MAP3K7	6	91261815	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	600257	91261815	79853252	331	3508											
PRDM1	639	broad.mit.edu;mdanderson.org	37	chr6	106553250	106553250	+	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	ccgccagctttcatcccctcGtacaacgctcactaccccaa	9	8	4	20	3	2	0	2	0	0	0	4	0	3	0	6	0	4	3	6	0	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:106553250G>A	ENST00000369096.4	+	5	1449	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	PRDM1_ENST00000369091.2_Silent_p.S369S|PRDM1_ENST00000369089.3_Silent_p.S271S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	405					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCATCCCCTCGTACAACGCTC	0.582			"D, N, Mis, F, S"		DLBCL																																	.		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	0													85	63	71					6																	106553250		2203	4300	6503	SO:0001819	synonymous_variant	639				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1215G>A	6.37:g.106553250G>A			B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	CCDS5054.2																																																																																				0.582	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			A	106553250	G	A	106553250	2	1	43	1	0	0	0	0	0	0	0	1	12450	1132	40	1		1	PRDM1	6	106553250	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	15291435	106553250	64561817	332	3509											
AIM1	202	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	107000090	107000090	+	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	tggcccaaggagacgaaatcAggtaactttaaaaatattct	16	10	8	7	1	2	1	1	0	1	1	2	3	2	1	1	3	1	1	1	3	7	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:107000090A>G	ENST00000369066.3	+	13	4734	c.4247A>G	c.(4246-4248)cAg>cGg	p.Q1416R	AIM1_ENST00000535438.1_Splice_Site_p.Q235R|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGACGAAATCAGGTAACttta	0.328																																						.											0													15	16	16					6																	107000090		2186	4259	6445	SO:0001630	splice_region_variant	202			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.4248+1A>G	6.37:g.107000090A>G			Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951320	0.53186	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.74842	-0.88;-0.88;-0.88	5.53	5.53	0.82687	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.482215	0.19530	N	0.112062	T	0.49064	0.1535	N	0.16790	0.44	0.41292	D	0.986988	B;B	0.22683	0.011;0.073	B;B	0.25987	0.024;0.065	T	0.55573	-0.8120	10	0.62326	D	0.03	.	13.6978	0.62591	1.0:0.0:0.0:0.0	.	235;1416	B4DU04;Q9Y4K1	.;AIM1_HUMAN	R	1416;235;235	ENSP00000358062:Q1416R;ENSP00000391419:Q235R;ENSP00000439183:Q235R	ENSP00000358062:Q1416R	Q	+	2	0	AIM1	107106783	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.853000	0.48317	2.226000	0.72624	0.460000	0.39030	CAG		0.328	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Missense_Mutation	G	107000090	A	G	107000090	5	3	43	1	0	0	0	0	0	0	1	0	430	202	7	2	4297	2	AIM1	6	107000090	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	446840	107000090	64114977	333	3510											
SCML4	256380	bcgsc.ca	37	chr6	108042039	108042039	+	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	agcggtggcagcaggaccacCcccaaggtggctgtctccag	8	5	14	14	1	1	0	0	0	1	0	2	1	1	1	4	5	2	3	4	5	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:108042039C>T	ENST00000369020.3	-	6	1086	c.841G>A	c.(841-843)Ggt>Agt	p.G281S	SCML4_ENST00000369022.2_Missense_Mutation_p.G223S|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.G252S|SCML4_ENST00000369025.2_Missense_Mutation_p.G39S	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCAGGACCACCCCCAAGGTGG	0.662																																						.											0													43	50	48					6																	108042039		2203	4300	6503	SO:0001583	missense	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.841G>A	6.37:g.108042039C>T	ENSP00000358016:p.Gly281Ser		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639946	0.29157	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.44881	0.98;0.97;0.91	5.19	2.27	0.28462	.	0.436668	0.25349	N	0.031310	T	0.36936	0.0985	L	0.56769	1.78	0.45464	D	0.99843	D;B;D	0.76494	0.993;0.027;0.999	P;B;D	0.68943	0.751;0.016;0.961	T	0.42207	-0.9465	10	0.07644	T	0.81	.	11.4501	0.50147	0.0:0.7746:0.0:0.2254	.	281;281;252	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	S	223;39;281;252	ENSP00000358018:G223S;ENSP00000358016:G281S;ENSP00000358017:G252S	ENSP00000358016:G281S	G	-	1	0	SCML4	108148732	0.909000	0.30893	0.119000	0.21687	0.410000	0.31052	1.673000	0.37534	0.785000	0.33685	-0.133000	0.14855	GGT		0.662	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		T	108042039	C	T	108042039	3	4	43	1	0	0	0	0	1	0	0	0	13911	623	22	3	415	3	SCML4	6	108042039	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1041949	108042039	63073028	334	3511											
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	109766433	109766433	+	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	caaggccagctccagcttcaCgccctcggcctctagctccc	6	7	8	20	2	2	0	1	0	1	0	5	0	4	0	5	2	3	3	5	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:109766433C>T	ENST00000358807.3	-	22	3159	c.2848G>A	c.(2848-2850)Gtg>Atg	p.V950M	MICAL1_ENST00000368952.4_Missense_Mutation_p.V969M|MICAL1_ENST00000358577.3_Missense_Mutation_p.V864M	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	950					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)		TCCAGCTTCACGCCCTCGGCC	0.572																																						.											0													59	58	58					6																	109766433		2203	4300	6503	SO:0001583	missense	64780			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.2848G>A	6.37:g.109766433C>T	ENSP00000351664:p.Val950Met		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	4.389	0.071791	0.08436	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.56444	0.46;0.46;0.46	5.4	-3.89	0.04193	Domain of unknown function DUF3585 (1);	0.908073	0.09419	N	0.804763	T	0.16214	0.0390	N	0.20328	0.56	0.09310	N	1	B;B;B	0.19817	0.039;0.014;0.015	B;B;B	0.16289	0.015;0.006;0.015	T	0.33727	-0.9857	10	0.54805	T	0.06	.	11.5325	0.50618	0.0:0.4014:0.0:0.5986	.	969;864;950	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	950;969;864;474;206	ENSP00000351664:V950M;ENSP00000357948:V969M;ENSP00000351385:V864M	ENSP00000335372:V206M	V	-	1	0	MICAL1	109873126	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.133000	0.10451	-0.701000	0.05063	-0.793000	0.03317	GTG		0.572	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		T	109766433	C	T	109766433	3	4	43	1	0	0	0	0	1	0	0	0	9569	536	19	1	371	1	MICAL1	6	109766433	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1724394	109766433	61348634	335	3512											
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	109769510	109769510	+	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	cggcctgtgcagacaccaccGgtgtgatgcccagctcattc	7	8	11	15	2	1	2	1	1	0	1	2	2	1	2	4	2	3	2	4	2	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:109769510G>A	ENST00000358807.3	-	13	2062	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MICAL1_ENST00000368952.4_Missense_Mutation_p.P603L|MICAL1_ENST00000358577.3_Missense_Mutation_p.P498L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	584	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGACACCACCGGTGTGATGCC	0.607																																						.											0													173	161	165					6																	109769510		2203	4300	6503	SO:0001583	missense	64780			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.1751C>T	6.37:g.109769510G>A	ENSP00000351664:p.Pro584Leu		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872109	0.91587	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.59638	0.25;0.25;0.25	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.75077	-0.3445	10	0.72032	D	0.01	.	16.6283	0.84992	0.0:0.0:1.0:0.0	.	603;498;584	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	L	584;603;498;108	ENSP00000351664:P584L;ENSP00000357948:P603L;ENSP00000351385:P498L	ENSP00000351385:P498L	P	-	2	0	MICAL1	109876203	1.000000	0.71417	0.689000	0.30133	0.870000	0.49936	6.142000	0.71750	2.529000	0.85273	0.561000	0.74099	CCG		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		A	109769510	G	A	109769510	3	1	43	1	0	0	0	0	1	0	0	0	9569	1116	39	1	1504	1	MICAL1	6	109769510	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3077	109769510	61345557	336	3513											
NCOA7	135112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr6	126210643	126210643	+	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	gatgttgaactgaagggggcGctagatttagaaacctgtga	12	10	14	5	1	0	5	0	3	0	2	0	6	0	5	1	2	2	2	1	2	5	4	rs375161871		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:126210643G>A	ENST00000368357.3	+	10	1795	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	NCOA7_ENST00000392477.2_Silent_p.A481A|NCOA7_ENST00000229634.9_Silent_p.A366A	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	481					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)		TGAAGGGGGCGCTAGATTTAG	0.453													G|||	1	0.000199681	0	0	5008	,	,		17339	0		0	False		,,,				2504	0.001					.											0								G	,,,,	1,4397	2.1+/-5.4	0,1,2198	54	57	56		1410,1443,1443,1098,1443	0.4	0.5	6		56	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA7	NM_001122842.2,NM_001199619.1,NM_001199620.1,NM_001199621.1,NM_181782.4	,,,,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,,,,	470/932,481/943,481/943,366/828,481/943	126210643	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	135112			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.1443G>A	6.37:g.126210643G>A			B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	CCDS5132.1																																																																																				0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		A	126210643	G	A	126210643	2	1	43	1	0	0	0	0	0	0	0	1	10234	1074	38	1		1	NCOA7	6	126210643	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16441133	126210643	44904424	337	3514											
KIAA1244	57221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	138655393	138655393	+	Missense_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	tgtctggcatcgggggcgccGccaacctctaccgccagtct	5	8	12	16	4	3	0	0	0	3	0	4	0	3	0	5	3	2	1	5	3	2	1	rs201470794		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:138655393G>A	ENST00000251691.4	+	33	5576	c.5410G>A	c.(5410-5412)Gcc>Acc	p.A1804T		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)		CGGGGGCGCCGCCAACCTCTA	0.557																																						.											0													25	25	25					6																	138655393		2203	4300	6503	SO:0001583	missense	57221			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.5410G>A	6.37:g.138655393G>A	ENSP00000251691:p.Ala1804Thr			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	32	5.179957	0.94846	.	.	ENSG00000112379	ENST00000251691	T	0.33216	1.42	5.23	5.23	0.72850	.	0.354096	0.32518	N	0.005989	T	0.43678	0.1258	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.25363	-1.0134	10	0.46703	T	0.11	-25.0529	18.8012	0.92018	0.0:0.0:1.0:0.0	.	1804	Q5TH69	BIG3_HUMAN	T	1804	ENSP00000251691:A1804T	ENSP00000251691:A1804T	A	+	1	0	KIAA1244	138697086	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.787000	0.99055	2.452000	0.82932	0.411000	0.27672	GCC		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138655393	G	A	138655393	3	1	43	1	0	0	0	0	1	0	0	0	8217	1087	38	1	5540	1	KIAA1244	6	138655393	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12444750	138655393	32459674	338	3515											
STXBP5	134957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	147527114	147527114	+	Missense_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	tgcccatccctagactgttcGccatggatttccctatcaac	8	12	6	15	1	1	1	1	0	0	1	4	2	3	2	4	1	2	1	4	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:147527114G>A	ENST00000321680.6	+	2	158	c.158G>A	c.(157-159)cGc>cAc	p.R53H	STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367481.3_Missense_Mutation_p.R53H|STXBP5_ENST00000546097.1_Missense_Mutation_p.R53H|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000367480.3_Missense_Mutation_p.R53H|STXBP5-AS1_ENST00000367477.3_RNA	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	53					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R53H(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAGACTGTTCGCCATGGATTT	0.463																																						.											2	Substitution - Missense(2)	endometrium(2)											172	154	160					6																	147527114		2203	4300	6503	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.158G>A	6.37:g.147527114G>A	ENSP00000321826:p.Arg53His		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	37	6.027106	0.97216	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.968	D	0.95799	0.8831	10	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	53;53	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	H	53	ENSP00000356451:R53H;ENSP00000441479:R53H;ENSP00000321826:R53H;ENSP00000356450:R53H	ENSP00000321826:R53H	R	+	2	0	STXBP5	147568807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.941000	0.99782	0.655000	0.94253	CGC		0.463	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			A	147527114	G	A	147527114	3	1	43	1	0	0	0	0	1	0	0	0	15355	1087	38	1	164	1	STXBP5	6	147527114	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8871721	147527114	23587953	339	3516											
TIAM2	26230	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr6	155450720	155450720	+	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	ggcttccactctgttggccaCgagctggcagataaccacat	9	9	10	13	1	1	1	0	0	1	1	2	2	2	1	3	3	2	4	3	3	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:155450720C>T	ENST00000461783.3	+	6	1636	c.363C>T	c.(361-363)caC>caT	p.H121H	TIAM2_ENST00000529824.2_Silent_p.H121H|TIAM2_ENST00000456144.1_Silent_p.H121H|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.H121H|TIAM2_ENST00000318981.5_Silent_p.H121H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	121					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)		CTGTTGGCCACGAGCTGGCAG	0.562																																						.											0													75	63	67					6																	155450720		2203	4300	6503	SO:0001819	synonymous_variant	26230				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.363C>T	6.37:g.155450720C>T			B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.562	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155450720	C	T	155450720	2	4	43	1	0	0	0	0	0	0	0	1	15888	535	19	1		1	TIAM2	6	155450720	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7923606	155450720	15664347	340	3517											
NOX3	50508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	155764489	155764489	+	Missense_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	gtgcggccagaagtccctggGcctcctcggactggctccag	5	7	14	15	2	0	1	0	0	0	1	4	2	3	2	5	4	1	1	5	4	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:155764489G>A	ENST00000159060.2	-	5	506	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	135	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAGTCCCTGGGCCTCCTCGGA	0.577																																						.											0													104	87	93					6																	155764489		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.404C>T	6.37:g.155764489G>A	ENSP00000159060:p.Ala135Val		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	2.828	-0.243237	0.05906	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.52	3.71	0.42584	Flavoprotein transmembrane component (1);	0.203527	0.34555	N	0.003879	D	0.84247	0.5430	L	0.43152	1.355	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.71849	-0.4468	10	0.15952	T	0.53	-6.1288	9.0805	0.36550	0.074:0.0:0.7802:0.1458	.	135	Q9HBY0	NOX3_HUMAN	V	135	ENSP00000159060:A135V	ENSP00000159060:A135V	A	-	2	0	NOX3	155806181	0.009000	0.17119	0.003000	0.11579	0.032000	0.12392	1.563000	0.36364	0.666000	0.31087	0.561000	0.74099	GCC		0.577	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			A	155764489	G	A	155764489	3	1	43	1	0	0	0	0	1	0	0	0	10557	1203	42	3	1338	3	NOX3	6	155764489	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	313769	155764489	15350578	341	3518											
PARK2	5071	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	162206903	162206903	+	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	gaaacagtctaagcaaatcaCgtggcgggagttgcactgga	13	7	13	8	2	2	0	1	0	1	0	2	3	2	2	0	3	3	3	0	3	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:162206903C>T	ENST00000366898.1	-	7	874	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	PARK2_ENST00000366896.1_Missense_Mutation_p.V109M|PARK2_ENST00000366894.1_Missense_Mutation_p.V67M|PARK2_ENST00000366897.1_Missense_Mutation_p.V230M|PARK2_ENST00000338468.3_Missense_Mutation_p.V67M|PARK2_ENST00000366892.1_Missense_Mutation_p.V258M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	258	SYT11 binding 2.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|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 phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AAGCAAATCACGTGGCGGGAG	0.512																																						.											0			GRCh37	CM056034	PARK2	M							88	76	80					6																	162206903		2203	4300	6503	SO:0001583	missense	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.772G>A	6.37:g.162206903C>T	ENSP00000355865:p.Val258Met		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767302	0.90020	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	D	0.95252	0.8460	M	0.83953	2.67	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	0.91635	0.999;0.994;0.988;0.988;0.971	D	0.95119	0.8245	10	0.62326	D	0.03	.	17.7106	0.88321	0.0:1.0:0.0:0.0	.	258;109;230;258;67	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	258;230;109;67;67;67;258;179	ENSP00000355865:V258M;ENSP00000355863:V230M;ENSP00000355862:V109M;ENSP00000355860:V67M;ENSP00000343589:V67M;ENSP00000355858:V258M	ENSP00000343589:V67M	V	-	1	0	PARK2	162126893	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.554000	0.73923	2.717000	0.92951	0.650000	0.86243	GTG		0.512	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			T	162206903	C	T	162206903	3	4	43	1	0	0	0	0	1	0	0	0	11449	536	19	1	649	1	PARK2	6	162206903	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6442414	162206903	8908164	342	3519											
TMEM184A	202915	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr7	1588279	1588279	+	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	gcgtagagggcgaggctgacGgaggcgttgtagatgagggt	8	7	21	5	4	0	4	0	2	0	2	0	6	0	5	0	5	0	4	0	5	2	3	rs368580121		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:1588279G>A	ENST00000297477.5	-	7	1006	c.690C>T	c.(688-690)tcC>tcT	p.S230S	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	230					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)		CGAGGCTGACGGAGGCGTTGT	0.637																																						.											0								G		3,4397	6.2+/-15.9	0,3,2197	119	150	139		690	-10.2	0	7		139	0,8598		0,0,4299	no	coding-synonymous	TMEM184A	NM_001097620.1		0,3,6496	AA,AG,GG		0.0,0.0682,0.0231		230/414	1588279	3,12995	2200	4299	6499	SO:0001819	synonymous_variant	202915				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.690C>T	7.37:g.1588279G>A			Q8TBQ6	Silent	SNP	ENST00000297477.5	37	CCDS43537.1																																																																																				0.637	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		A	1588279	G	A	1588279	2	1	43	1	0	0	0	0	0	0	0	1	16101	1103	39	1		1	TMEM184A	7	1588279	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10		1588279	157550384	343	3520											
KIAA0415	9907	broad.mit.edu	37	chr7	4830934	4830934	+	Missense_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	gtgcagcccccgctatcaccGcgatgccaacacggccctgc	7	5	10	19	4	1	0	1	0	0	0	1	1	1	0	5	1	5	2	5	1	2	1	rs375090264		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:4830934G>A	ENST00000348624.4	+	17	2436	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	781					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)											CGCTATCACCGCGATGCCAAC	0.687																																						.											0													23	29	27					7																	4830934		2136	4206	6342	SO:0001583	missense	9907			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.2342G>A	7.37:g.4830934G>A	ENSP00000297562:p.Arg781His		Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858165	0.51376	.	.	ENSG00000242802	ENST00000348624	T	0.51817	0.69	5.13	1.97	0.26223	.	.	.	.	.	T	0.57577	0.2063	M	0.72894	2.215	0.38297	D	0.942867	D;D	0.76494	0.999;0.999	P;P	0.60068	0.818;0.868	T	0.60900	-0.7171	9	0.49607	T	0.09	.	6.9415	0.24496	0.2252:0.0:0.6337:0.1411	.	1492;781	A4D1Z4;O43299	.;K0415_HUMAN	H	781	ENSP00000297562:R781H	ENSP00000297562:R781H	R	+	2	0	KIAA0415	4797460	1.000000	0.71417	0.676000	0.29932	0.005000	0.04900	3.440000	0.52886	1.104000	0.41587	0.655000	0.94253	CGC		0.687	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			A	4830934	G	A	4830934	3	1	43	1	0	0	0	0	1	0	0	0	8175	1087	38	1	2408	1	KIAA0415	7	4830934	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3242655	4830934	154307729	344	3521											
RADIL	55698	mdanderson.org	37	chr7	4876100	4876100	+	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	tgggcggcagcgggcagggcGttcactgggctcaggctggt	4	7	20	10	3	2	0	2	0	0	0	2	0	2	0	0	7	1	5	0	7	0	1	rs138811640	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:4876100G>A	ENST00000399583.3	-	3	859	c.672C>T	c.(670-672)aaC>aaT	p.N224N	RADIL_ENST00000538469.1_De_novo_Start_OutOfFrame|RADIL_ENST00000536091.1_Silent_p.N224N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	224					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.N224N(1)		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)		CGGGCAGGGCGTTCACTGGGC	0.721													G|||	60	0.0119808	0.0015	0.0173	5008	,	,		12942	0		0.0249	False		,,,				2504	0.0215					.											1	Substitution - coding silent(1)	lung(1)						G		16,4162		0,16,2073	11	18	16		672	0.3	0.1	7	dbSNP_134	16	205,8153		6,193,3980	no	coding-synonymous	RADIL	NM_018059.4		6,209,6053	AA,AG,GG		2.4527,0.383,1.7629		224/1076	4876100	221,12315	2089	4179	6268	SO:0001819	synonymous_variant	55698			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.672C>T	7.37:g.4876100G>A			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																				0.721	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		A	4876100	G	A	4876100	2	1	43	1	0	0	0	0	0	0	0	1	12997	1136	40	1		1	RADIL	7	4876100	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	45166	4876100	154262563	345	3522											
CYTH3	9265	broad.mit.edu;mdanderson.org	37	chr7	6217521	6217521	+	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	tttataaaggaactgggcgaCgtcttctggggaactctgta	10	12	12	7	2	3	0	0	0	3	0	3	3	3	2	0	4	2	1	0	4	6	5	rs555480535		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:6217521C>T	ENST00000350796.3	-	5	437	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	Y_RNA_ENST00000458975.1_RNA	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	101	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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						AACTGGGCGACGTCTTCTGGG	0.458													C|||	1	0.000199681	0	0	5008	,	,		19725	0		0	False		,,,				2504	0.001					.											0													127	120	122					7																	6217521		2203	4300	6503	SO:0001583	missense	9265			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.301G>A	7.37:g.6217521C>T	ENSP00000297044:p.Val101Ile		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	5.917	0.353326	0.11182	.	.	ENSG00000008256	ENST00000350796	T	0.56611	0.45	5.16	4.03	0.46877	.	0.098253	0.64402	N	0.000003	T	0.22044	0.0531	N	0.05351	-0.065	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30534	-0.9975	10	0.02654	T	1	.	3.7502	0.08563	0.0:0.651:0.0:0.349	.	101	O43739-2	.	I	101	ENSP00000297044:V101I	ENSP00000297044:V101I	V	-	1	0	CYTH3	6184046	1.000000	0.71417	0.145000	0.22337	0.748000	0.42578	4.901000	0.63259	2.559000	0.86315	0.655000	0.94253	GTC		0.458	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		T	6217521	C	T	6217521	3	4	43	1	0	0	0	0	1	0	0	0	4205	536	19	1	934	1	CYTH3	7	6217521	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1341421	6217521	152921142	346	3523											
COL28A1	340267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	7472278	7472278	+	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	cttacaggcacaccaggataGccatcacctttgagtcctgg	10	9	9	13	0	1	1	1	1	0	0	2	2	2	2	4	3	2	1	4	3	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:7472278G>A	ENST00000399429.3	-	24	2054	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	638					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CACCAGGATAGCCATCACCTT	0.488																																						.											0													109	113	112					7																	7472278		2006	4166	6172	SO:0001819	synonymous_variant	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1914C>T	7.37:g.7472278G>A			A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	CCDS43553.1																																																																																				0.488	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		A	7472278	G	A	7472278	2	1	43	1	0	0	0	0	0	0	0	1	3686	958	34	4		4	COL28A1	7	7472278	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1254757	7472278	151666385	347	3524											
DGKB	1607	broad.mit.edu	37	chr7	14620499	14620499	+	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	tgctttacctcctccccatcGcaggcatcttgctagatcat	7	13	6	15	1	2	1	1	0	1	1	5	1	4	1	4	1	3	4	4	1	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:14620499G>A	ENST00000403951.2	-	19	2019	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	DGKB_ENST00000402815.1_Nonsense_Mutation_p.R533*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R534*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R515*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R526*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	534	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CCTCCCCATCGCAGGCATCTT	0.428																																						.											0													81	76	78					7																	14620499		1957	4172	6129	SO:0001587	stop_gained	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1600C>T	7.37:g.14620499G>A	ENSP00000385780:p.Arg534*		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	38	7.162631	0.98107	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4202	0.49976	0.0:0.0:0.6084:0.3916	.	.	.	.	X	534;534;534;533;526;515;534	.	ENSP00000258767:R534X	R	-	1	2	DGKB	14587024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.030000	0.70903	2.718000	0.92993	0.591000	0.81541	CGA		0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		A	14620499	G	A	14620499	4	1	43	1	0	0	0	0	0	1	0	0	4466	1095	38	1	861	1	DGKB	7	14620499	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7148221	14620499	144518164	348	3525											
HDAC9	9734	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	18975462	18975462	+	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	tttgacgaagcaattgatgaCattggctgatggacgtgtgg	10	12	14	5	2	0	4	0	4	0	0	0	6	0	5	0	3	1	2	0	3	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:18975462C>T	ENST00000432645.2	+	22	2825	c.2825C>T	c.(2824-2826)aCa>aTa	p.T942I	HDAC9_ENST00000406451.4_Missense_Mutation_p.T942I|HDAC9_ENST00000401921.1_Missense_Mutation_p.T901I|HDAC9_ENST00000441542.2_Missense_Mutation_p.T945I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	942	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)	CAATTGATGACATTGGCTGAT	0.398																																						.											0													219	216	217					7																	18975462		1964	4149	6113	SO:0001583	missense	9734			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.2825C>T	7.37:g.18975462C>T	ENSP00000410337:p.Thr942Ile		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315918	0.40996	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.81	4.85	0.62838	Histone deacetylase domain (2);	0.304559	0.27951	N	0.017190	T	0.68293	0.2985	L	0.48642	1.525	0.45015	D	0.998035	B;B;B;B;B	0.31625	0.332;0.006;0.006;0.007;0.006	B;B;B;B;B	0.43889	0.435;0.003;0.003;0.005;0.003	T	0.68047	-0.5512	10	0.49607	T	0.09	-40.5538	6.7135	0.23290	0.2865:0.6219:0.0:0.0916	.	190;901;945;942;942	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	I	942;901;942;945;854	ENSP00000384657:T942I;ENSP00000383912:T901I;ENSP00000410337:T942I;ENSP00000408617:T945I	ENSP00000339165:T854I	T	+	2	0	HDAC9	18941987	0.996000	0.38824	0.981000	0.43875	0.984000	0.73092	3.150000	0.50662	2.739000	0.93911	0.563000	0.77884	ACA		0.398	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18975462	C	T	18975462	3	4	43	1	0	0	0	0	1	0	0	0	7014	478	17	4	3033	4	HDAC9	7	18975462	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4354963	18975462	140163201	349	3526											
ABCB5	340273	hgsc.bcm.edu;mdanderson.org	37	chr7	20778687	20778687	+	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	gaatattccaaagccaaatcGggggctgcgcatctgtttgc	10	10	11	10	2	1	0	0	0	1	0	3	1	2	0	2	2	3	3	2	2	4	3	rs369991802		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:20778687G>A	ENST00000404938.2	+	24	3601	c.2949G>A	c.(2947-2949)tcG>tcA	p.S983S	ABCB5_ENST00000258738.6_Silent_p.S538S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	983					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)	p.S538S(1)|p.S983S(1)		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						AAGCCAAATCGGGGGCTGCGC	0.428																																						.											2	Substitution - coding silent(2)	lung(2)						G	,	0,4406		0,0,2203	54	52	52		2949,1614	-3.3	1	7		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABCB5	NM_001163941.1,NM_178559.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	983/1258,538/813	20778687	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	340273			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.2949G>A	7.37:g.20778687G>A			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20778687	G	A	20778687	2	1	43	1	0	0	0	0	0	0	0	1	44	1103	39	1		1	ABCB5	7	20778687	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1803225	20778687	138359976	350	3527											
C7orf46	340277	hgsc.bcm.edu;ucsc.edu	37	chr7	23724139	23724139	+	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	attgttggtgaggatgatggAgggaaactttttactcctga	10	14	13	4	0	0	3	0	3	0	0	1	6	1	6	1	4	2	1	1	4	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:23724139A>T	ENST00000344962.4	+	2	176	c.87A>T	c.(85-87)ggA>ggT	p.G29G	FAM221A_ENST00000409653.1_Intron|FAM221A_ENST00000409994.3_Intron|FAM221A_ENST00000409192.3_Silent_p.G29G	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	29																	AGGATGATGGAGGGAAACTTT	0.363																																						.											0													58	60	59					7																	23724139		2203	4300	6503	SO:0001819	synonymous_variant	340277				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.87A>T	7.37:g.23724139A>T			Q05CG4|Q4G0Q7|Q6P519	Silent	SNP	ENST00000344962.4	37	CCDS5385.1																																																																																				0.363	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		T	23724139	A	T	23724139	2	4	43	1	0	0	0	0	0	0	0	1	2396	291	11	5		5	C7orf46	7	23724139	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2945452	23724139	135414524	351	3528											
GARS	2617	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	30662010	30662010	+	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	aagaaggatgcaaaactggtGatggagtatcttgccatttg	13	11	12	5	0	1	2	0	1	1	1	1	4	1	4	1	3	3	2	1	3	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:30662010G>A	ENST00000389266.3	+	12	1786	c.1545G>A	c.(1543-1545)gtG>gtA	p.V515V		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	515					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAACTGGTGATGGAGTATC	0.403																																						.											0													213	199	204					7																	30662010		1943	4157	6100	SO:0001819	synonymous_variant	2617			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1545G>A	7.37:g.30662010G>A			B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																				0.403	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		A	30662010	G	A	30662010	2	1	43	1	0	0	0	0	0	0	0	1	6242	1277	45	4		4	GARS	7	30662010	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6937871	30662010	128476653	352	3529											
AQP1	358	ucsc.edu;mdanderson.org	37	chr7	30951659	30951659	+	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	gtggggaacaaccagacggcGgtccaggacaacgtgaaggt	12	4	16	9	3	0	2	0	1	0	1	1	4	1	4	2	6	3	0	2	6	4	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:30951659G>A	ENST00000311813.4	+	1	190	c.135G>A	c.(133-135)gcG>gcA	p.A45A	AQP1_ENST00000509504.1_Silent_p.A222A|AQP1_ENST00000434909.2_Silent_p.A105A	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	45			A -> V (in Co(A-B+) antigen; dbSNP:rs28362692). {ECO:0000269|PubMed:7521882, ECO:0000269|Ref.6}.	A -> T (in Ref. 10; AAH22486). {ECO:0000305}.	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)	ACCAGACGGCGGTCCAGGACA	0.647																																						.											0													48	50	49					7																	30951659		2203	4300	6503	SO:0001819	synonymous_variant	358			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.135G>A	7.37:g.30951659G>A			B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Silent	SNP	ENST00000311813.4	37	CCDS5431.1																																																																																				0.647	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		A	30951659	G	A	30951659	2	1	43	1	0	0	0	0	0	0	0	1	821	1103	39	1		1	AQP1	7	30951659	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	289649	30951659	128187004	353	3530											
BMPER	168667	broad.mit.edu;bcgsc.ca	37	chr7	34006162	34006162	+	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	cggctgagccttgtgttctaCgccagtgccaggtaaagttc	7	11	12	11	2	1	1	0	1	1	0	2	1	1	1	3	2	3	4	3	2	3	5	rs374945016		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:34006162C>T	ENST00000297161.2	+	5	765	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	BMPER_ENST00000426693.1_Missense_Mutation_p.R131C	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	131	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTGTGTTCTACGCCAGTGCCA	0.448																																						.											0								C	CYS/ARG	0,4406		0,0,2203	71	72	72		391	5.9	1	7		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMPER	NM_133468.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	131/686	34006162	1,13005	2203	4300	6503	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.391C>T	7.37:g.34006162C>T	ENSP00000297161:p.Arg131Cys		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584504	0.46110	0.0	1.16E-4	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.32272	1.46;1.46	5.87	5.87	0.94306	von Willebrand factor, type C (1);	0.696787	0.15764	N	0.245769	T	0.10723	0.0262	N	0.00560	-1.38	0.38776	D	0.954666	B	0.24882	0.113	B	0.12156	0.007	T	0.29941	-0.9995	10	0.37606	T	0.19	.	13.8324	0.63389	0.0:0.9214:0.0:0.0786	.	131	Q8N8U9	BMPER_HUMAN	C	131	ENSP00000297161:R131C;ENSP00000393950:R131C	ENSP00000297161:R131C	R	+	1	0	BMPER	33972687	0.235000	0.23794	0.957000	0.39632	0.979000	0.70002	2.342000	0.43992	2.780000	0.95670	0.655000	0.94253	CGC		0.448	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		T	34006162	C	T	34006162	3	4	43	1	0	0	0	0	1	0	0	0	1468	536	19	1	405	1	BMPER	7	34006162	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3054503	34006162	125132501	354	3531											
URGCP	55665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	43917672	43917672	+	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	ctgacactcctcacagtcctCgtcgacctttaggcccagtt	7	11	7	16	2	1	1	1	1	0	0	5	2	3	1	4	1	0	1	4	1	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:43917672C>T	ENST00000453200.1	-	6	1883	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	URGCP_ENST00000443736.1_Missense_Mutation_p.E421K|URGCP_ENST00000447717.3_Missense_Mutation_p.E421K|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.E455K|URGCP_ENST00000336086.6_Missense_Mutation_p.E421K|URGCP_ENST00000223341.7_Missense_Mutation_p.E421K|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	464					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						TCACAGTCCTCGTCGACCTTT	0.587																																						.											0													128	135	133					7																	43917672		2041	4188	6229	SO:0001583	missense	55665				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.1390G>A	7.37:g.43917672C>T	ENSP00000396918:p.Glu464Lys		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170495	0.78452	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.14766	2.51;2.51;2.48;2.51;2.48;2.51	5.79	5.79	0.91817	.	0.100474	0.64402	D	0.000004	T	0.42381	0.1200	M	0.84082	2.675	0.39491	D	0.968051	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.42032	-0.9475	10	0.87932	D	0	-43.3797	17.5201	0.87784	0.0:1.0:0.0:0.0	.	455;464	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	K	421;421;455;421;464;421	ENSP00000223341:E421K;ENSP00000336872:E421K;ENSP00000384955:E455K;ENSP00000392136:E421K;ENSP00000396918:E464K;ENSP00000402803:E421K	ENSP00000223341:E421K	E	-	1	0	URGCP	43884197	0.999000	0.42202	0.967000	0.41034	0.729000	0.41735	4.298000	0.59067	2.735000	0.93741	0.655000	0.94253	GAG		0.587	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		T	43917672	C	T	43917672	3	4	43	1	0	0	0	0	1	0	0	0	17023	893	31	1	1409	1	URGCP	7	43917672	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9911510	43917672	115220991	355	3532											
POLM	27434	mdanderson.org	37	chr7	44121936	44121936	+	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	cgacccatgcgaggctcgacCaggtagatggcgactcccgg	8	5	14	14	5	0	1	0	0	0	1	2	5	1	1	3	4	1	2	3	4	1	1	rs3218655	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:44121936C>A	ENST00000242248.5	-	1	203	c.102G>T	c.(100-102)ctG>ctT	p.L34L	POLM_ENST00000395831.3_Silent_p.L34L|POLM_ENST00000335195.6_Silent_p.L34L	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	34	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAGGCTCGACCAGGTAGATGG	0.736								DNA polymerases (catalytic subunits)					C|||	853	0.170327	0.2163	0.1844	5008	,	,		9905	0.1111		0.1491	False		,,,				2504	0.181					.											0								C		772,3464		79,614,1425	7	8	8		102	4.4	1	7	dbSNP_106	8	995,7359		69,857,3251	no	coding-synonymous	POLM	NM_013284.2		148,1471,4676	AA,AC,CC		11.9105,18.2247,14.0349		34/495	44121936	1767,10823	2118	4177	6295	SO:0001819	synonymous_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.102G>T	7.37:g.44121936C>A			D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	CCDS34625.1																																																																																				0.736	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44121936	C	A	44121936	2	1	43	1	0	0	0	0	0	0	0	1	12206	581	21	5		5	POLM	7	44121936	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	204264	44121936	115016727	356	3533											
NPC1L1	29881	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	44579467	44579467	+	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	cagcgtggcagctgcagggaCgcgcacacggctgcaggagt	8	4	17	12	4	0	0	0	0	0	0	0	2	0	2	0	4	4	6	0	4	0	0	rs149017550	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:44579467C>T	ENST00000289547.4	-	2	584	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	NPC1L1_ENST00000381160.3_Missense_Mutation_p.V177I|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V177I|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V177I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	177					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)	GCTGCAGGGACGCGCACACGG	0.622													C|||	10	0.00199681	0	0	5008	,	,		20278	0		0.0099	False		,,,				2504	0					.											0								C	ILE/VAL,ILE/VAL	1,4405		0,1,2202	56	50	52		529,529	-0.2	0.9	7	dbSNP_134	52	51,8549		0,51,4249	yes	missense,missense	NPC1L1	NM_001101648.1,NM_013389.2	29,29	0,52,6451	TT,TC,CC		0.593,0.0227,0.3998	benign,benign	177/1333,177/1360	44579467	52,12954	2203	4300	6503	SO:0001583	missense	29881				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.529G>A	7.37:g.44579467C>T	ENSP00000289547:p.Val177Ile		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	N	0.005	-2.221995	0.00283	2.27E-4	0.00593	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.04	-0.208	0.13185	.	0.337134	0.29868	N	0.010994	T	0.57154	0.2034	N	0.00595	-1.35	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.60707	-0.7210	10	0.23891	T	0.37	-27.144	5.2314	0.15424	0.0:0.3359:0.1498:0.5143	.	177;177;177;177	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	I	177	ENSP00000289547:V177I;ENSP00000370552:V177I;ENSP00000438033:V177I;ENSP00000404670:V177I	ENSP00000289547:V177I	V	-	1	0	NPC1L1	44545992	0.285000	0.24296	0.873000	0.34254	0.021000	0.10359	0.124000	0.15728	-0.265000	0.09352	-0.505000	0.04504	GTC		0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		T	44579467	C	T	44579467	3	4	43	1	0	0	0	0	1	0	0	0	10571	536	19	1	3626	1	NPC1L1	7	44579467	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	457531	44579467	114559196	357	3534											
UPP1	7378	broad.mit.edu	37	chr7	48134391	48134391	+	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	agttggcggaatggcggccaCgggagccaatgcagagaaag	12	4	17	8	3	0	1	0	0	0	1	0	4	0	3	2	5	2	2	2	5	3	1	rs11971829	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:48134391C>T	ENST00000331803.4	+	4	634	c.11C>T	c.(10-12)aCg>aTg	p.T4M	UPP1_ENST00000429491.2_5'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.T4M|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Missense_Mutation_p.T4M			Q16831	UPP1_HUMAN	uridine phosphorylase 1	4					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)	ATGGCGGCCACGGGAGCCAAT	0.498													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		16453	0		0	False		,,,				2504	0					.											0								C	MET/THR,MET/THR	20,4386	26.2+/-53.5	0,20,2183	107	93	97		11,11	1.4	0	7	dbSNP_120	97	0,8600		0,0,4300	yes	missense,missense	UPP1	NM_003364.2,NM_181597.1	81,81	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	possibly-damaging,possibly-damaging	4/311,4/311	48134391	20,12986	2203	4300	6503	SO:0001583	missense	7378			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.11C>T	7.37:g.48134391C>T	ENSP00000330032:p.Thr4Met		D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	CCDS5507.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	3.804	-0.041115	0.07452	0.004539	0.0	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000432131;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.46451	0.87;0.89;0.89;0.89;0.87	3.23	1.37	0.22104	.	2.685510	0.01278	N	0.009653	T	0.15696	0.0378	N	0.04508	-0.205	0.23023	N	0.998416	B;B	0.26081	0.141;0.081	B;B	0.10450	0.005;0.003	T	0.15694	-1.0428	10	0.48119	T	0.1	0.0042	3.8331	0.08882	0.2382:0.6327:0.0:0.1291	rs11971829;rs11971829	4;4	B4DND0;Q16831	.;UPP1_HUMAN	M	4	ENSP00000405209:T4M;ENSP00000330032:T4M;ENSP00000342878:T4M;ENSP00000378931:T4M;ENSP00000390118:T4M	ENSP00000330032:T4M	T	+	2	0	UPP1	48100916	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.120000	0.10660	0.374000	0.24650	-0.181000	0.13052	ACG		0.498	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		T	48134391	C	T	48134391	3	4	43	1	0	0	0	0	1	0	0	0	17009	536	19	1	13	1	UPP1	7	48134391	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3554924	48134391	111004272	358	3535											
LAT2	7462	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	73630393	73630393	+	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	gtctgtgtgtgcgctgctcaCgcccaggtaagcgggggtct	4	10	16	11	3	3	0	1	0	2	0	3	0	3	0	1	3	3	3	1	3	1	1	rs369438020		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:73630393C>T	ENST00000460943.1	+	3	977	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	LAT2_ENST00000398475.1_Missense_Mutation_p.R30C|LAT2_ENST00000344995.5_Missense_Mutation_p.R30C|LAT2_ENST00000275635.7_Missense_Mutation_p.R30C	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCGCTGCTCACGCCCAGGTAA	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18325	0		0	False		,,,				2504	0					.											0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4308		0,0,2154	36	45	42		88,88,88	3.5	0.7	7		42	2,8488		0,2,4243	no	missense,missense,missense	LAT2	NM_014146.3,NM_032463.2,NM_032464.2	180,180,180	0,2,6397	TT,TC,CC		0.0236,0.0,0.0156	probably-damaging,probably-damaging,probably-damaging	30/244,30/244,30/244	73630393	2,12796	2154	4245	6399	SO:0001583	missense	7462			AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"linker for activation of B cells", "non-T cell activation linker", "linker for activation of T cells, transmembrane adaptor 2"	605719	"Williams-Beuren syndrome chromosome region 5"	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.88C>T	7.37:g.73630393C>T	ENSP00000420494:p.Arg30Cys		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036763	0.54896	0.0	2.36E-4	ENSG00000086730	ENST00000465116;ENST00000344995;ENST00000460943;ENST00000475494;ENST00000398475;ENST00000361082;ENST00000275635;ENST00000470709	T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	3.49	3.49	0.39957	.	0.403035	0.18670	N	0.134471	T	0.19565	0.0470	L	0.32530	0.975	0.40535	D	0.98096	D	0.89917	1.0	D	0.69654	0.965	T	0.01360	-1.1375	10	0.66056	D	0.02	-10.4302	10.7933	0.46445	0.0:1.0:0.0:0.0	.	30	Q9GZY6	NTAL_HUMAN	C	30	ENSP00000420549:R30C;ENSP00000344881:R30C;ENSP00000420494:R30C;ENSP00000417533:R30C;ENSP00000381492:R30C;ENSP00000354374:R30C;ENSP00000275635:R30C;ENSP00000419150:R30C	ENSP00000275635:R30C	R	+	1	0	LAT2	73268329	0.967000	0.33354	0.740000	0.30986	0.478000	0.33099	1.466000	0.35310	2.256000	0.74724	0.561000	0.74099	CGC		0.647	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			T	73630393	C	T	73630393	3	4	43	1	0	0	0	0	1	0	0	0	8645	536	19	1	90	1	LAT2	7	73630393	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	25496002	73630393	85508270	359	3536											
POR	5447	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	75608803	75608803	+	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	cgtgttctacggctcccagaCggggactgcagaggagtttg	7	9	15	10	3	1	2	0	0	1	2	2	4	2	4	1	4	2	4	1	4	1	3	rs562750402		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:75608803C>T	ENST00000461988.1	+	4	377	c.272C>T	c.(271-273)aCg>aTg	p.T91M	POR_ENST00000439269.1_5'Flank|POR_ENST00000419840.1_5'UTR|POR_ENST00000475509.1_3'UTR|POR_ENST00000450476.1_5'Flank|POR_ENST00000545601.1_5'Flank|POR_ENST00000394893.1_Missense_Mutation_p.T91M	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	88	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				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)	GGCTCCCAGACGGGGACTGCA	0.617																																						.											0													42	51	48					7																	75608803		2093	4208	6301	SO:0001583	missense	5447			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.272C>T	7.37:g.75608803C>T	ENSP00000419970:p.Thr91Met		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616300	0.87359	.	.	ENSG00000127948	ENST00000453773;ENST00000439963;ENST00000461988;ENST00000394893;ENST00000412521;ENST00000414186;ENST00000432753;ENST00000426184	T;T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93741	0.7050	10	0.87932	D	0	-35.3056	15.1594	0.72771	0.0:1.0:0.0:0.0	.	97	Q59ED7	.	M	91;91;91;91;91;91;91;44	ENSP00000395813:T91M;ENSP00000390540:T91M;ENSP00000419970:T91M;ENSP00000378355:T91M;ENSP00000409238:T91M;ENSP00000399327:T91M;ENSP00000389409:T91M;ENSP00000400964:T44M	ENSP00000378355:T91M	T	+	2	0	POR	75446739	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.209000	0.77916	2.118000	0.64928	0.655000	0.94253	ACG		0.617	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		T	75608803	C	T	75608803	3	4	43	1	0	0	0	0	1	0	0	0	12257	536	19	1	282	1	POR	7	75608803	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1978410	75608803	83529860	360	3537											
SRCRB4D	136853	broad.mit.edu;mdanderson.org	37	chr7	76024631	76024631	+	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	gaggatggcagtgctgtgagCgttgggggacccaggcctag	7	7	19	8	1	0	1	0	1	0	0	0	4	0	3	2	5	2	3	2	5	1	2	rs139627347		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:76024631C>T	ENST00000275560.3	-	7	1232	c.885G>A	c.(883-885)acG>acA	p.T295T	ZP3_ENST00000336517.4_5'Flank|SRCRB4D_ENST00000492979.2_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTGCTGTGAGCGTTGGGGGAC	0.622																																						.											0								C		0,4406		0,0,2203	56	53	54		885	1.6	0.2	7	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SRCRB4D	NM_080744.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		295/576	76024631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	136853																														ENST00000275560.3:c.885G>A	7.37:g.76024631C>T				Silent	SNP	ENST00000275560.3	37	CCDS5585.1																																																																																				0.622	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			T	76024631	C	T	76024631	2	4	43	1	0	0	0	0	0	0	0	1	15136	755	27	1		1	SRCRB4D	7	76024631	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	415828	76024631	83114032	361	3538											
SRCRB4D	136853	broad.mit.edu;bcgsc.ca	37	chr7	76030355	76030355	+	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	cagtggagtgggctgtagggCgctggctgaaacagagtgag	9	7	19	6	1	0	3	0	2	0	1	0	4	0	4	0	4	1	4	0	4	2	1	rs77067369	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:76030355C>T	ENST00000275560.3	-	3	486	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GGCTGTAGGGCGCTGGCTGAA	0.627													C|||	50	0.00998403	0	0	5008	,	,		16587	0.0496		0	False		,,,				2504	0					.											0								C	,THR/ALA	1,3991		0,1,1995	120	92	101		,139	1.3	0.5	7	dbSNP_131	101	0,7736		0,0,3868	yes	intron,missense	ZP3,SRCRB4D	NM_007155.5,NM_080744.1	,58	0,1,5863	TT,TC,CC		0.0,0.0251,0.0085	,benign	,47/576	76030355	1,11727	1996	3868	5864	SO:0001583	missense	136853																														ENST00000275560.3:c.139G>A	7.37:g.76030355C>T	ENSP00000275560:p.Ala47Thr			Missense_Mutation	SNP	ENST00000275560.3	37	CCDS5585.1	36	0.016483516483516484	0	0.0	0	0.0	36	0.06293706293706294	0	0.0	C	11.06	1.528752	0.27387	2.51E-4	0.0	ENSG00000146700	ENST00000275560	T	0.01209	5.17	4.78	1.3	0.21679	.	0.529873	0.15674	N	0.250223	T	0.00144	0.0004	L	0.36672	1.1	0.46028	D	0.998824	B	0.33739	0.422	B	0.25405	0.06	T	0.67699	-0.5603	10	0.22706	T	0.39	.	3.4369	0.07449	0.0:0.5166:0.2105:0.2729	.	47	Q8WTU2	SRB4D_HUMAN	T	47	ENSP00000275560:A47T	ENSP00000275560:A47T	A	-	1	0	SRCRB4D	75868291	0.062000	0.20869	0.473000	0.27253	0.876000	0.50452	0.135000	0.15952	0.519000	0.28406	-0.350000	0.07774	GCC		0.627	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			T	76030355	C	T	76030355	3	4	43	1	0	0	0	0	1	0	0	0	15136	768	27	1	1624	1	SRCRB4D	7	76030355	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5724	76030355	83108308	362	3539											
CACNA2D1	781	broad.mit.edu;bcgsc.ca	37	chr7	81620513	81620513	+	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	ttaattacctgtaatctgtgCcattgacaggtgtccatgtg	9	15	9	8	0	1	1	0	1	1	0	2	1	2	1	3	1	2	1	3	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:81620513C>T	ENST00000356253.5	-	22	2096	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G595D			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	614					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)	GTAATCTGTGCCATTGACAGG	0.303																																						.											0													147	126	133					7																	81620513		2202	4295	6497	SO:0001583	missense	781			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.1841G>A	7.37:g.81620513C>T	ENSP00000348589:p.Gly614Asp		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.41|13.41	2.227764|2.227764	0.39399|0.39399	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.75260	.|-0.92;-0.92	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.046899	.|0.85682	.|D	.|0.000000	T|T	0.69242|0.69242	0.3089|0.3089	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B	.|0.23735	.|0.09	.|B	.|0.29176	.|0.099	T|T	0.62039|0.62039	-0.6938|-0.6938	5|10	.|0.18710	.|T	.|0.47	-10.5042|-10.5042	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|595	.|P54289-2	.|.	T|D	113|595;614;614	.|ENSP00000349320:G595D;ENSP00000348589:G614D	.|ENSP00000284088:G614D	A|G	-|-	1|2	0|0	CACNA2D1|CACNA2D1	81458449|81458449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.548000|4.548000	0.60718|0.60718	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.303	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81620513	C	T	81620513	3	4	43	1	0	0	0	0	1	0	0	0	2548	739	26	3	1567	3	CACNA2D1	7	81620513	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5590158	81620513	77518150	363	3540											
STEAP2	261729	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	89854552	89854552	+	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	accattcgacttattagatgCggctatcatgtggtcatagg	10	13	10	8	2	2	1	2	0	0	1	3	2	2	1	1	3	1	1	1	3	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:89854552C>T	ENST00000287908.3	+	2	549	c.156C>T	c.(154-156)tgC>tgT	p.C52C	STEAP2_ENST00000394632.1_Silent_p.C52C|STEAP2_ENST00000394621.2_Silent_p.C52C|STEAP2_ENST00000394626.1_Silent_p.C52C|STEAP2_ENST00000402625.2_Silent_p.C52C|STEAP2_ENST00000394629.2_Silent_p.C52C|STEAP2_ENST00000394622.2_Silent_p.C52C	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	52					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTATTAGATGCGGCTATCATG	0.393																																						.											0													207	180	189					7																	89854552		2203	4300	6503	SO:0001819	synonymous_variant	261729			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.156C>T	7.37:g.89854552C>T			A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		T	89854552	C	T	89854552	2	4	43	1	0	0	0	0	0	0	0	1	15277	776	27	1		1	STEAP2	7	89854552	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8234039	89854552	69284111	364	3541											
AKAP9	10142	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr7	91631833	91631833	+	Missense_Mutation	SNP	T	T	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	atcaagagttacaagaggagTatgcttgccttctcaaagta	14	11	9	7	0	2	2	2	0	1	2	3	3	2	3	1	1	3	4	1	1	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:91631833T>C	ENST00000359028.2	+	9	2863	c.2638T>C	c.(2638-2640)Tat>Cat	p.Y880H	AKAP9_ENST00000358100.2_Missense_Mutation_p.Y880H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Y868H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	880	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)			ACAAGAGGAGTATGCTTGCCT	0.299			T	BRAF	papillary thyroid																																	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													51	56	55					7																	91631833		2200	4296	6496	SO:0001583	missense	10142			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.2638T>C	7.37:g.91631833T>C	ENSP00000351922:p.Tyr880His		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	T	11.98	1.801164	0.31869	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.05025	3.51;3.51;3.51	5.25	5.25	0.73442	.	0.000000	0.37809	N	0.001932	T	0.24470	0.0593	M	0.69823	2.125	0.41469	D	0.988096	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.78314	0.975;0.989;0.983;0.991	T	0.00536	-1.1683	10	0.72032	D	0.01	.	15.6084	0.76692	0.0:0.0:0.0:1.0	.	880;868;868;880	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	868;880;880;880;880	ENSP00000348573:Y868H;ENSP00000351922:Y880H;ENSP00000350813:Y880H	ENSP00000348573:Y868H	Y	+	1	0	AKAP9	91469769	1.000000	0.71417	0.950000	0.38849	0.938000	0.57974	4.127000	0.57944	2.326000	0.78906	0.533000	0.62120	TAT		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		C	91631833	T	C	91631833	3	2	43	1	0	0	0	0	1	0	0	0	459	1638	57	2	2632	2	AKAP9	7	91631833	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1777281	91631833	67506830	365	3542											
CDK6	1021	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	92252390	92252390	+	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	atcaacatctgaacttccacGaaaaagaggcctaaaagaat	19	7	6	9	1	2	3	1	1	1	2	3	4	3	3	2	1	2	0	2	1	7	2	rs373488172		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:92252390G>A	ENST00000265734.4	-	6	1069	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	CDK6_ENST00000424848.2_Missense_Mutation_p.R220C	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAACTTCCACGAAAAAGAGGC	0.294			T	MLLT10	ALL																																	.		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0								G	CYS/ARG,CYS/ARG	0,4398		0,0,2199	43	44	43		658,658	5.2	1	7		43	1,8591		0,1,4295	no	missense,missense	CDK6	NM_001259.6,NM_001145306.1	180,180	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	220/327,220/327	92252390	1,12989	2199	4296	6495	SO:0001583	missense	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.658C>T	7.37:g.92252390G>A	ENSP00000265734:p.Arg220Cys		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693066	0.48202	0.0	1.16E-4	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.66638	-0.22;-0.22	5.19	5.19	0.71726	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	0.61426	0.2346	L	0.43923	1.385	0.80722	D	1	B	0.24132	0.098	B	0.15870	0.014	T	0.58434	-0.7637	10	0.45353	T	0.12	-10.0515	19.094	0.93242	0.0:0.0:1.0:0.0	.	220	Q00534	CDK6_HUMAN	C	220	ENSP00000265734:R220C;ENSP00000397087:R220C	ENSP00000265734:R220C	R	-	1	0	CDK6	92090326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.245000	0.72398	2.595000	0.87683	0.650000	0.86243	CGT		0.294	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			A	92252390	G	A	92252390	3	1	43	1	0	0	0	0	1	0	0	0	3148	1058	37	1	334	1	CDK6	7	92252390	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	620557	92252390	66886273	366	3543											
LMTK2	22853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	97823453	97823453	+	Missense_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	acgatcgcccctgcaccctcGcttccacggggaccaacacg	8	5	9	19	5	0	0	0	0	0	0	3	2	1	1	5	2	2	2	5	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:97823453G>A	ENST00000297293.5	+	11	3969	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1226					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)					CTGCACCCTCGCTTCCACGGG	0.607																																						.											0													67	64	65					7																	97823453		2203	4300	6503	SO:0001583	missense	22853			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.3676G>A	7.37:g.97823453G>A	ENSP00000297293:p.Ala1226Thr		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	5.442	0.266728	0.10294	.	.	ENSG00000164715	ENST00000297293	T	0.77229	-1.08	5.84	0.0503	0.14293	.	0.727788	0.13285	N	0.399478	T	0.59142	0.2172	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.37384	-0.9708	10	0.12766	T	0.61	.	5.8759	0.18828	0.6301:0.0:0.2131:0.1568	.	1226	Q8IWU2	LMTK2_HUMAN	T	1226	ENSP00000297293:A1226T	ENSP00000297293:A1226T	A	+	1	0	LMTK2	97661389	0.085000	0.21516	0.033000	0.17914	0.382000	0.30200	0.427000	0.21379	-0.208000	0.10171	-0.345000	0.07892	GCT		0.607	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		A	97823453	G	A	97823453	3	1	43	1	0	0	0	0	1	0	0	0	8859	1087	38	1	3718	1	LMTK2	7	97823453	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5571063	97823453	61315210	367	3544											
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	98576517	98576517	+	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	ctggactgccatgaaggaggCgctggtgcaggtgagacgcc	8	6	17	10	2	0	2	0	2	0	1	0	5	0	4	2	5	2	2	2	5	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:98576517C>T	ENST00000359863.4	+	57	8812	c.8603C>T	c.(8602-8604)gCg>gTg	p.A2868V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A2850V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A2850V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2868	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)	p.A2850V(1)		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)			ATGAAGGAGGCGCTGGTGCAG	0.622																																						.											1	Substitution - Missense(1)	stomach(1)											45	47	46					7																	98576517		2203	4300	6503	SO:0001583	missense	8295			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.8603C>T	7.37:g.98576517C>T	ENSP00000352925:p.Ala2868Val		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.64|18.64	3.666500|3.666500	0.67814|0.67814	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.69040|.	-0.37;-0.37|.	6.03|6.03	6.03|6.03	0.97812|0.97812	PIK-related kinase (1);PIK-related kinase, FAT (1);|.	0.055526|.	0.64402|.	D|.	0.000001|.	T|T	0.71986|0.71986	0.3405|0.3405	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	P;B;P|.	0.38711|.	0.594;0.113;0.643|.	B;B;B|.	0.28709|.	0.067;0.056;0.093|.	T|T	0.65952|0.65952	-0.6043|-0.6043	10|5	0.31617|.	T|.	0.26|.	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2850;2589;2868|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	2868;2850;2849|2590	ENSP00000352925:A2868V;ENSP00000347733:A2850V|.	ENSP00000347733:A2850V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98414453|98414453	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.916000|0.916000	0.54674|0.54674	7.818000|7.818000	0.86416|0.86416	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98576517	C	T	98576517	3	4	43	1	0	0	0	0	1	0	0	0	16598	768	27	1	8767	1	TRRAP	7	98576517	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	753064	98576517	60562146	368	3545											
CYP3A5	1577	mdanderson.org;bcgsc.ca	37	chr7	99247772	99247772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcatgttcatgagagcaAacctcatgccaatgcagttt	11	13	8	9	0	3	1	3	1	0	1	3	2	3	1	2	0	4	5	2	0	2	3	rs41279854		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99247772A>G	ENST00000222982.4	-	12	1436	c.1337T>C	c.(1336-1338)tTt>tCt	p.F446S	CYP3A5_ENST00000343703.5_Missense_Mutation_p.F436S|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	446			F -> S (in dbSNP:rs41279854). {ECO:0000269|PubMed:12893984}.		alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|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)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CATGAGAGCAAACCTCATGCC	0.403													A|||	1	0.000199681	0	0	5008	,	,		18307	0		0.001	False		,,,				2504	0					.											0			GRCh37	CM033965	CYP3A5	M	rs41279854						279	241	254					7																	99247772		2203	4300	6503	SO:0001583	missense	1577			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1337T>C	7.37:g.99247772A>G	ENSP00000222982:p.Phe446Ser		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878797	0.72294	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.73258	-0.73;-0.73	4.73	3.58	0.41010	.	0.099610	0.64402	D	0.000001	D	0.88149	0.6359	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.991;0.995	D	0.87882	0.2678	10	0.87932	D	0	.	8.2279	0.31579	0.9032:0.0:0.0968:0.0	rs41279854	436;446;446	F5H4S0;B2R9K2;P20815	.;.;CP3A5_HUMAN	S	446;436	ENSP00000222982:F446S;ENSP00000342969:F436S	ENSP00000222982:F446S	F	-	2	0	CYP3A5	99085708	1.000000	0.71417	0.419000	0.26584	0.997000	0.91878	8.759000	0.91667	0.660000	0.30964	0.459000	0.35465	TTT		0.403	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			G	99247772	A	G	99247772	3	3	43	1	0	0	0	0	1	0	0	0	4180	14	1	4	179	4	CYP3A5	7	99247772	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	671255	99247772	59890891	369	3546											
ZNF3	7551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	99669271	99669271	+	Missense_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	attcatagggtttctcccccGtgtggatcctccgatgcaga	7	12	10	12	2	2	1	1	0	1	1	5	3	4	2	4	2	1	2	4	2	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99669271G>A	ENST00000424697.1	-	6	1142	c.836C>T	c.(835-837)aCg>aTg	p.T279M	ZNF3_ENST00000299667.4_Missense_Mutation_p.T279M|ZNF3_ENST00000303915.6_Missense_Mutation_p.T279M|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	279					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTTCTCCCCCGTGTGGATCCT	0.502																																						.											0													64	73	70					7																	99669271		2201	4299	6500	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.836C>T	7.37:g.99669271G>A	ENSP00000415358:p.Thr279Met		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241770	0.58995	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.26373	1.74;1.74;1.74	4.71	3.82	0.43975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.50718	0.1632	M	0.77486	2.375	0.42125	D	0.991445	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	T	0.57900	-0.7731	10	0.87932	D	0	-34.2278	12.9626	0.58466	0.0:0.1644:0.8356:0.0	.	262;279	B3KRP4;P17036	.;ZNF3_HUMAN	M	279	ENSP00000415358:T279M;ENSP00000306372:T279M;ENSP00000299667:T279M	ENSP00000299667:T279M	T	-	2	0	ZNF3	99507207	1.000000	0.71417	0.852000	0.33557	0.952000	0.60782	6.437000	0.73421	1.344000	0.45657	0.655000	0.94253	ACG		0.502	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		A	99669271	G	A	99669271	3	1	43	1	0	0	0	0	1	0	0	0	17826	1145	40	1	637	1	ZNF3	7	99669271	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	421499	99669271	59469392	370	3547											
COPS6	10980	broad.mit.edu	37	chr7	99688529	99688529	+	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	tccgtctccttcacagcttcCtgtcagcgtttttgagtctg	4	16	8	13	2	4	1	2	1	2	0	7	1	6	1	3	0	2	2	3	0	0	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99688529C>A	ENST00000303904.3	+	6	528	c.491C>A	c.(490-492)cCt>cAt	p.P164H	MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.P163H	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	164					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCACAGCTTCCTGTCAGCGTT	0.443																																						.											0													157	155	155					7																	99688529		2203	4300	6503	SO:0001583	missense	10980			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.491C>A	7.37:g.99688529C>A	ENSP00000304102:p.Pro164His		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571796	0.65765	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.58210	0.35;0.35	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83408	0.0026	10	0.87932	D	0	-20.2736	15.3999	0.74830	0.0:1.0:0.0:0.0	.	164	Q7L5N1	CSN6_HUMAN	H	164;163	ENSP00000304102:P164H;ENSP00000400617:P163H	ENSP00000304102:P164H	P	+	2	0	COPS6	99526465	1.000000	0.71417	0.982000	0.44146	0.713000	0.41058	6.368000	0.73104	2.484000	0.83849	0.655000	0.94253	CCT		0.443	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		A	99688529	C	A	99688529	3	1	43	1	0	0	0	0	1	0	0	0	3737	681	24	5	513	5	COPS6	7	99688529	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	19258	99688529	59450134	371	3548											
C7orf51	222950	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	100085892	100085892	+	Missense_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	cgatgagtcctgccccccagGcccctctcctcgagggggga	5	6	13	17	2	1	1	0	1	1	0	4	4	2	2	7	4	1	0	7	4	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100085892G>A	ENST00000300179.2	+	4	707	c.548G>A	c.(547-549)gGc>gAc	p.G183D	NYAP1_ENST00000423930.1_Missense_Mutation_p.G183D|NYAP1_ENST00000454988.1_Missense_Mutation_p.G126D	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	183	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGCCCCCCAGGCCCCTCTCCT	0.657																																						.											0													60	69	66					7																	100085892		2203	4300	6503	SO:0001583	missense	222950			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.548G>A	7.37:g.100085892G>A	ENSP00000300179:p.Gly183Asp		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	6.463	0.453518	0.12283	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.40756	1.02;1.02;1.02	5.14	3.28	0.37604	.	0.127824	0.35646	N	0.003064	T	0.20292	0.0488	N	0.03608	-0.345	0.25451	N	0.988001	B	0.16603	0.018	B	0.17433	0.018	T	0.14924	-1.0455	10	0.20046	T	0.44	-10.2403	13.2611	0.60106	0.0:0.6886:0.3114:0.0	.	183	Q6ZVC0	CG051_HUMAN	D	183;183;126	ENSP00000300179:G183D;ENSP00000411861:G183D;ENSP00000394424:G126D	ENSP00000300179:G183D	G	+	2	0	C7orf51	99923828	0.992000	0.36948	0.956000	0.39512	0.961000	0.63080	2.022000	0.41030	0.516000	0.28340	-0.693000	0.03709	GGC		0.657	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		A	100085892	G	A	100085892	3	1	43	1	0	0	0	0	1	0	0	0	2400	1203	42	3	558	3	C7orf51	7	100085892	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	397363	100085892	59052771	372	3549											
FBXO24	26261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	100198383	100198383	+	Missense_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	ttgccaaacgttgcaggaccGcacggagaagatgaaggaga	14	5	14	8	3	0	4	0	1	0	3	0	7	0	5	2	3	3	3	2	3	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100198383G>A	ENST00000241071.6	+	10	1926	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	FBXO24_ENST00000468962.1_Missense_Mutation_p.R523H|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.R573H|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000446022.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	535					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGCAGGACCGCACGGAGAAG	0.642																																						.											0													83	75	78					7																	100198383		2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1604G>A	7.37:g.100198383G>A	ENSP00000241071:p.Arg535His		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	g	12.40	1.927552	0.34002	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.16196	2.38;2.38;2.36	4.22	4.22	0.49857	.	0.116434	0.37348	N	0.002139	T	0.06554	0.0168	N	0.08118	0	0.80722	D	1	B;B;B;B	0.34329	0.449;0.449;0.449;0.449	B;B;B;B	0.19148	0.024;0.024;0.024;0.024	T	0.32134	-0.9918	10	0.35671	T	0.21	-8.1622	7.8933	0.29691	0.1108:0.0:0.8892:0.0	.	523;573;535;535	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	H	535;523;573	ENSP00000241071:R535H;ENSP00000420239:R523H;ENSP00000416558:R573H	ENSP00000241071:R535H	R	+	2	0	FBXO24	100036319	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.529000	0.53532	2.191000	0.70037	0.454000	0.30748	CGC		0.642	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			A	100198383	G	A	100198383	3	1	43	1	0	0	0	0	1	0	0	0	5735	1087	38	1	1799	1	FBXO24	7	100198383	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	112491	100198383	58940280	373	3550											
ZAN	7455	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	100334486	100334486	+	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	ccaccgtgggggagtggcccGcctgctcagccccgacctat	5	6	13	17	3	1	0	1	0	0	0	1	2	1	1	7	3	2	1	7	3	1	1	rs374155932		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100334486G>A	ENST00000348028.3	+	0	473				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_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)			GGAGTGGCCCGCCTGCTCAGC	0.647																																						.											0													7	10	9					7																	100334486		1878	3846	5724			7455			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.100334486G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	17.02	3.282921	0.59867	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02421	4.3;4.3;4.3	4.55	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.35677	N	0.003050	T	0.12774	0.0310	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.973;0.984	T	0.00035	-1.2263	10	0.62326	D	0.03	.	7.5698	0.27900	0.1123:0.0:0.8877:0.0	.	103;103	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	103	ENSP00000445943:R103H;ENSP00000445091:R103H;ENSP00000444427:R103H	ENSP00000423579:R103H	R	+	2	0	ZAN	100172422	0.706000	0.27856	1.000000	0.80357	0.508000	0.34012	1.727000	0.38095	2.473000	0.83533	0.561000	0.74099	CGC		0.647	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100334486	G	A	100334486	1	1	43	0	1	0	0	0	0	0	0	0	17510	1087	38	1		1	ZAN	7	100334486	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	136103	100334486	58804177	374	3551											
SLC12A9	56996	broad.mit.edu;bcgsc.ca	37	chr7	100453339	100453339	+	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	cactttcagtcatgatcagcCgcacactggggcccgaggtc	8	8	11	14	2	3	1	3	1	0	0	4	2	3	1	2	3	1	1	2	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100453339C>T	ENST00000354161.3	+	4	453	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R110C|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R110C|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	110					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)					CATGATCAGCCGCACACTGGG	0.572																																						.											0													137	136	136					7																	100453339		2203	4300	6503	SO:0001583	missense	56996			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.328C>T	7.37:g.100453339C>T	ENSP00000275730:p.Arg110Cys		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226635	0.58668	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000354161;ENST00000434158	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	4.08	1.94	0.25998	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98725	1.0710	10	0.87932	D	0	.	8.0469	0.30555	0.4741:0.5259:0.0:0.0	.	110	Q9BXP2	S12A9_HUMAN	C	110	ENSP00000443702:R110C;ENSP00000408301:R110C;ENSP00000275730:R110C;ENSP00000408571:R110C	ENSP00000275730:R110C	R	+	1	0	SLC12A9	100291275	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.846000	0.39289	0.857000	0.35407	0.462000	0.41574	CGC		0.572	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		T	100453339	C	T	100453339	3	4	43	1	0	0	0	0	1	0	0	0	14390	652	23	1	338	1	SLC12A9	7	100453339	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	118853	100453339	58685324	375	3552											
SLC12A9	56996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	100454700	100454700	+	Missense_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	tgtggggccgagggacatccGcttgactcctaggcctggcc	5	8	15	13	2	0	1	0	1	0	0	2	3	2	2	5	5	0	1	5	5	1	2	rs150811167	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100454700G>A	ENST00000354161.3	+	5	784	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R220H|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R131H|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R220H|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R131H	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	220					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)					AGGGACATCCGCTTGACTCCT	0.627																																						.											0													99	86	90					7																	100454700		2203	4300	6503	SO:0001583	missense	56996			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.659G>A	7.37:g.100454700G>A	ENSP00000275730:p.Arg220His		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	4.396	0.073139	0.08485	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161	D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17	4.62	-0.721	0.11189	Amino acid permease domain (1);	0.494253	0.19028	N	0.124638	D	0.92760	0.7698	N	0.14661	0.345	0.09310	N	1	B;B	0.31193	0.312;0.136	B;B	0.23275	0.027;0.045	D	0.87949	0.2722	10	0.45353	T	0.12	.	2.7391	0.05248	0.1331:0.4432:0.2635:0.1603	.	131;220	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	H	220;220;131;131;220	ENSP00000443702:R220H;ENSP00000408301:R220H;ENSP00000275729:R131H;ENSP00000413796:R131H;ENSP00000275730:R220H	ENSP00000275729:R131H	R	+	2	0	SLC12A9	100292636	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.710000	0.05024	-0.560000	0.06102	-0.384000	0.06662	CGC		0.627	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		A	100454700	G	A	100454700	3	1	43	1	0	0	0	0	1	0	0	0	14390	1087	38	1	673	1	SLC12A9	7	100454700	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1361	100454700	58683963	376	3553											
SRRT	51593	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	100484814	100484814	+	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	ccacccaaccgcatcagtcaCggggaaggtgagctccaggt	10	5	12	14	2	2	1	2	1	0	0	3	2	3	2	4	4	2	2	4	4	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100484814C>T	ENST00000347433.4	+	15	2126	c.1968C>T	c.(1966-1968)caC>caT	p.H656H	SRRT_ENST00000388793.4_Silent_p.H655H|SRRT_ENST00000432932.1_Silent_p.H655H|SRRT_ENST00000457580.2_Silent_p.H656H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	656					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						GCATCAGTCACGGGGAAGGTG	0.607																																						.											0													93	89	91					7																	100484814		2203	4300	6503	SO:0001819	synonymous_variant	51593				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.1968C>T	7.37:g.100484814C>T			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1																																																																																				0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		T	100484814	C	T	100484814	2	4	43	1	0	0	0	0	0	0	0	1	15171	535	19	1		1	SRRT	7	100484814	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	30114	100484814	58653849	377	3554											
MYL10	93408	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	101259535	101259535	+	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	aaacctttcccttcagtgtcGaacactttgaaggcgtggag	10	11	10	10	2	1	1	1	1	0	0	3	3	2	2	2	2	2	0	2	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:101259535G>A	ENST00000223167.4	-	6	675	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	166	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CTTCAGTGTCGAACACTTTGA	0.567																																					Esophageal Squamous(24;575 709 17516 40384 51639)	.											0													117	95	102					7																	101259535		2203	4300	6503	SO:0001819	synonymous_variant	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.498C>T	7.37:g.101259535G>A				Silent	SNP	ENST00000223167.4	37	CCDS34713.1																																																																																				0.567	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		A	101259535	G	A	101259535	2	1	43	1	0	0	0	0	0	0	0	1	10044	1049	37	1		1	MYL10	7	101259535	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	774721	101259535	57879128	378	3555											
FBXL13	222235	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	102566787	102566787	+	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	gattgagacacaggacccccGggcagccctcagaaatgtgt	11	6	12	12	1	1	2	1	1	0	2	1	5	1	3	3	2	1	1	3	2	1	1	rs150674888		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:102566787G>A	ENST00000313221.4	-	10	1238	c.812C>T	c.(811-813)cCg>cTg	p.P271L	FBXL13_ENST00000456695.1_Missense_Mutation_p.P271L|FBXL13_ENST00000379306.3_Missense_Mutation_p.P271L|FBXL13_ENST00000393772.2_Missense_Mutation_p.P271L|FBXL13_ENST00000379305.3_Missense_Mutation_p.P271L|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.P271L|FBXL13_ENST00000455112.2_Missense_Mutation_p.P271L|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.P271L	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	271										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGGACCCCCGGGCAGCCCTC	0.438													G|||	1	0.000199681	8e-04	0	5008	,	,		18726	0		0	False		,,,				2504	0					.											0								G	,LEU/PRO,,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	63	60	61		,812,,812	3.5	0.1	7	dbSNP_134	61	0,8600		0,0,4300	no	intron,missense,intron,missense	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	,98,,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign,,benign	,271/691,,271/736	102566787	1,13005	2203	4300	6503	SO:0001583	missense	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.812C>T	7.37:g.102566787G>A	ENSP00000321927:p.Pro271Leu		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849680	0.32699	2.27E-4	0.0	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.19669	2.28;2.28;2.13;2.28;2.28;2.28;2.13;2.28	5.42	3.47	0.39725	.	0.486738	0.18321	N	0.144803	T	0.19525	0.0469	L	0.58510	1.815	0.19300	N	0.999975	B;B;B;B	0.31040	0.002;0.305;0.049;0.003	B;B;B;B	0.26517	0.011;0.07;0.03;0.004	T	0.11299	-1.0593	10	0.39692	T	0.17	.	9.4317	0.38615	0.0:0.1368:0.5818:0.2814	.	271;271;271;271	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	L	271	ENSP00000377367:P271L;ENSP00000368610:P271L;ENSP00000368608:P271L;ENSP00000368607:P271L;ENSP00000388608:P271L;ENSP00000321927:P271L;ENSP00000409716:P271L;ENSP00000391550:P271L	ENSP00000321927:P271L	P	-	2	0	FBXL13	102354023	0.866000	0.29940	0.128000	0.21923	0.583000	0.36354	1.657000	0.37366	1.404000	0.46819	0.655000	0.94253	CCG		0.438	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		A	102566787	G	A	102566787	3	1	43	1	0	0	0	0	1	0	0	0	5709	1116	39	1	1439	1	FBXL13	7	102566787	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1307252	102566787	56571876	379	3556											
CDHR3	222256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	105669000	105669000	+	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	tgttctgttctctgcagaaaCgaagactgcagagagagacg	12	9	12	8	2	2	4	0	0	2	4	3	7	2	4	0	0	3	4	0	0	2	2	rs368556227		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:105669000C>T	ENST00000317716.9	+	17	2356	c.2276C>T	c.(2275-2277)aCg>aTg	p.T759M	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.T759M|CDHR3_ENST00000478080.1_Missense_Mutation_p.T671M|CDHR3_ENST00000343407.5_Silent_p.N261N	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	759					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						TCTGCAGAAACGAAGACTGCA	0.537																																						.											0								C	MET/THR	0,3892		0,0,1946	65	65	65		2276	-4	0.4	7		65	1,8293		0,1,4146	no	missense	CDHR3	NM_152750.4	81	0,1,6092	TT,TC,CC		0.0121,0.0,0.0082	benign	759/886	105669000	1,12185	1946	4147	6093	SO:0001583	missense	222256			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.2276C>T	7.37:g.105669000C>T	ENSP00000325954:p.Thr759Met		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	C	7.912	0.736668	0.15574	0.0	1.21E-4	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.56611	0.55;0.51;0.45	6.08	-3.95	0.04118	.	0.810325	0.11697	N	0.538287	T	0.22781	0.0550	N	0.04297	-0.235	0.25461	N	0.987917	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.17137	-1.0379	10	0.27785	T	0.31	-1.9056	6.6547	0.22981	0.1722:0.4538:0.0:0.3739	.	746;759	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	M	759;759;671	ENSP00000439766:T759M;ENSP00000325954:T759M;ENSP00000417771:T671M	ENSP00000325954:T759M	T	+	2	0	CDHR3	105456236	0.075000	0.21258	0.388000	0.26195	0.467000	0.32768	-0.976000	0.03786	-0.256000	0.09473	-0.982000	0.02568	ACG		0.537	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		T	105669000	C	T	105669000	3	4	43	1	0	0	0	0	1	0	0	0	3120	536	19	1	2342	1	CDHR3	7	105669000	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3102213	105669000	53469663	380	3557											
LAMB1	3912	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	107605032	107605032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctccgcttcatagaggtAgtgatccagggtggcaaagt	9	11	12	9	1	1	2	1	1	0	1	4	2	4	2	3	3	0	3	3	3	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:107605032A>G	ENST00000222399.6	-	14	1893	c.1663T>C	c.(1663-1665)Tac>Cac	p.Y555H	LAMB1_ENST00000393560.1_Missense_Mutation_p.Y555H|LAMB1_ENST00000393561.1_Missense_Mutation_p.Y579H	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	555	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				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						TCATAGAGGTAGTGATCCAGG	0.542																																						.											0													185	160	168					7																	107605032		2203	4300	6503	SO:0001583	missense	3912			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.1663T>C	7.37:g.107605032A>G	ENSP00000222399:p.Tyr555His		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.381108	0.82792	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39056	1.36;1.36;1.1	4.64	4.64	0.57946	Laminin IV (1);EGF-like, laminin (1);	.	.	.	.	T	0.68192	0.2974	M	0.90483	3.12	0.58432	D	0.999999	D;D;D	0.67145	0.992;0.996;0.996	D;D;D	0.70487	0.93;0.969;0.955	T	0.72743	-0.4201	9	0.35671	T	0.21	.	14.0581	0.64781	1.0:0.0:0.0:0.0	.	555;555;579	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	H	579;555;555	ENSP00000377191:Y579H;ENSP00000222399:Y555H;ENSP00000377190:Y555H	ENSP00000222399:Y555H	Y	-	1	0	LAMB1	107392268	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.957000	0.70323	1.730000	0.51580	0.460000	0.39030	TAC		0.542	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		G	107605032	A	G	107605032	3	3	43	1	0	0	0	0	1	0	0	0	8610	420	15	2	3781	2	LAMB1	7	107605032	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1936032	107605032	51533631	381	3558											
LAMB4	22798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	107717415	107717415	+	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	caccaggacatgtgaatgagCgtgggactctccttgcaaag	11	8	12	10	1	1	2	0	2	1	0	2	4	1	4	2	2	2	1	2	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:107717415C>T	ENST00000388781.3	-	17	2181	c.2098G>A	c.(2098-2100)Gct>Act	p.A700T	LAMB4_ENST00000418464.1_Missense_Mutation_p.A700T|LAMB4_ENST00000414450.2_Missense_Mutation_p.A700T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A700T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A700T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	700	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A700S(1)		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						TGTGAATGAGCGTGGGACTCT	0.418																																						.											1	Substitution - Missense(1)	lung(1)											111	113	113					7																	107717415		2203	4300	6503	SO:0001583	missense	22798			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.2098G>A	7.37:g.107717415C>T	ENSP00000373433:p.Ala700Thr		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	1.440	-0.567907	0.03910	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.32272	1.47;1.47;1.5;1.46;1.53	5.3	0.207	0.15214	Laminin IV (1);	0.387023	0.21811	N	0.068775	T	0.18257	0.0438	L	0.39020	1.185	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.29852	-0.9998	10	0.15066	T	0.55	.	7.1886	0.25813	0.1063:0.4809:0.0:0.4128	.	700	A4D0S4	LAMB4_HUMAN	T	700	ENSP00000205386:A700T;ENSP00000373433:A700T;ENSP00000373432:A700T;ENSP00000402353:A700T;ENSP00000402265:A700T	ENSP00000205386:A700T	A	-	1	0	LAMB4	107504651	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.572000	0.05881	-0.383000	0.07858	-1.851000	0.00568	GCT		0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107717415	C	T	107717415	3	4	43	1	0	0	0	0	1	0	0	0	8613	768	27	1	3259	1	LAMB4	7	107717415	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	112383	107717415	51421248	382	3559											
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	111368531	111368531	+	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	tcgtagacgctgtacgggggCggagtcttgctctccttgcg	4	11	15	11	5	2	1	0	0	2	1	4	2	2	2	1	3	3	4	1	3	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:111368531C>T	ENST00000437633.1	-	52	5956	c.5700G>A	c.(5698-5700)ccG>ccA	p.P1900P	DOCK4_ENST00000428084.1_Silent_p.P1909P|DOCK4_ENST00000494651.2_Silent_p.P783P	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1900	Pro-rich.				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)				TGTACGGGGGCGGAGTCTTGC	0.711																																						.											0													24	30	28					7																	111368531		2076	4191	6267	SO:0001819	synonymous_variant	9732				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.5700G>A	7.37:g.111368531C>T			O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	8.458	0.854645	0.17106	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.59	-7.72	0.01250	.	.	.	.	.	T	0.49012	0.1532	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54417	-0.8297	4	.	.	.	.	8.9441	0.35747	0.0:0.2168:0.447:0.3361	.	.	.	.	H	1323;1933	.	.	R	-	2	0	DOCK4	111155767	0.000000	0.05858	0.092000	0.20876	0.876000	0.50452	-2.142000	0.01298	-1.877000	0.01129	-0.878000	0.02970	CGC		0.711	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111368531	C	T	111368531	2	4	43	1	0	0	0	0	0	0	0	1	4689	755	27	1		1	DOCK4	7	111368531	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3651116	111368531	47770132	383	3560											
WNT2	7472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	116918232	116918232	+	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	tgtagcggttgtccagtcagCgttcttgggggccttgcatg	4	13	15	9	2	2	0	1	0	1	0	3	0	3	0	2	3	3	4	2	3	1	5	rs143749132		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:116918232C>T	ENST00000265441.3	-	5	1359	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	354					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GTCCAGTCAGCGTTCTTGGGG	0.567																																						.											0								C	THR/ALA	0,4406		0,0,2203	149	115	127		1060	4.1	1	7	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNT2	NM_003391.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	354/361	116918232	1,13005	2203	4300	6503	SO:0001583	missense	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.1060G>A	7.37:g.116918232C>T	ENSP00000265441:p.Ala354Thr		A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386759	0.61956	0.0	1.16E-4	ENSG00000105989	ENST00000265441	T	0.75367	-0.93	5.99	4.08	0.47627	.	0.297679	0.32147	N	0.006501	T	0.72692	0.3492	M	0.75447	2.3	0.27854	N	0.94063	P;P	0.40332	0.713;0.713	B;B	0.32864	0.154;0.154	T	0.71932	-0.4443	10	0.59425	D	0.04	.	17.7731	0.88499	0.0:0.7421:0.2579:0.0	.	354;354	A4D0V1;P09544	.;WNT2_HUMAN	T	354	ENSP00000265441:A354T	ENSP00000265441:A354T	A	-	1	0	WNT2	116705468	0.912000	0.30974	0.991000	0.47740	0.925000	0.55904	2.211000	0.42825	1.513000	0.48852	0.655000	0.94253	GCT		0.567	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		T	116918232	C	T	116918232	3	4	43	1	0	0	0	0	1	0	0	0	17383	768	27	1	26	1	WNT2	7	116918232	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5549701	116918232	42220431	384	3561											
CTTNBP2	83992	hgsc.bcm.edu;ucsc.edu	37	chr7	117407222	117407222	+	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	ccgtgcctacacaagatttcTaggcagttctataaagacaa	14	10	7	10	1	2	2	0	0	2	2	2	2	2	2	2	1	2	2	2	1	7	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:117407222T>C	ENST00000160373.3	-	9	2878	c.2787A>G	c.(2785-2787)ctA>ctG	p.L929L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	929					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)		ACAAGATTTCTAGGCAGTTCT	0.443																																						.											0													123	108	113					7																	117407222		2203	4300	6503	SO:0001819	synonymous_variant	83992				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.2787A>G	7.37:g.117407222T>C			O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	9.882	1.201776	0.22121	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.64	0.326	0.15908	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34030	-0.9845	4	.	.	.	-9.2463	4.8846	0.13697	0.1252:0.2842:0.0:0.5907	.	.	.	.	G	417	.	.	R	-	1	2	CTTNBP2	117194458	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	0.779000	0.26746	-0.099000	0.12263	-0.375000	0.07067	AGA		0.443	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		C	117407222	T	C	117407222	2	2	43	1	0	0	0	0	0	0	0	1	4045	1509	53	2		2	CTTNBP2	7	117407222	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	488990	117407222	41731441	385	3562											
WASL	8976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	123346348	123346348	+	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	taccagatttcctttgtcgaCggcccaaaaggtctgtaact	10	12	8	11	2	1	1	0	0	1	1	3	2	2	1	3	2	2	1	3	2	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:123346348C>T	ENST00000223023.4	-	4	751	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	140	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				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						CCTTTGTCGACGGCCCAAAAG	0.363																																						.											0													68	68	68					7																	123346348		2203	4300	6503	SO:0001583	missense	8976			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.419G>A	7.37:g.123346348C>T	ENSP00000223023:p.Arg140His		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962656	0.74016	.	.	ENSG00000106299	ENST00000223023	D	0.99511	-6.05	5.77	5.77	0.91146	EVH1 (1);Pleckstrin homology-type (1);	0.052002	0.85682	D	0.000000	D	0.99199	0.9722	L	0.38838	1.175	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	D	0.99904	1.1174	10	0.72032	D	0.01	-13.4183	20.3627	0.98863	0.0:1.0:0.0:0.0	.	140	O00401	WASL_HUMAN	H	140	ENSP00000223023:R140H	ENSP00000223023:R140H	R	-	2	0	WASL	123133584	0.993000	0.37304	0.925000	0.36789	0.964000	0.63967	3.476000	0.53143	2.885000	0.99019	0.655000	0.94253	CGT		0.363	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		T	123346348	C	T	123346348	3	4	43	1	0	0	0	0	1	0	0	0	17253	536	19	1	1130	1	WASL	7	123346348	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5939126	123346348	35792315	386	3563											
GRM8	2918	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	126173105	126173105	+	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	ccaataggtttggcttcattGaaagtctctgggacacctct	9	13	9	10	0	3	1	1	1	2	0	4	2	3	2	2	3	0	2	2	3	3	4	rs569979812		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:126173105G>T	ENST00000339582.2	-	9	3139	c.2331C>A	c.(2329-2331)ttC>ttA	p.F777L	GRM8_ENST00000444921.2_Missense_Mutation_p.F777L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.F777L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	777					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)				TGGCTTCATTGAAAGTCTCTG	0.413										HNSCC(24;0.065)																												.											0													140	122	128					7																	126173105		2203	4300	6503	SO:0001583	missense	2918				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.2331C>A	7.37:g.126173105G>T	ENSP00000344173:p.Phe777Leu		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161074	0.78226	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.93019	-3.15;-3.15;-3.15	5.72	5.72	0.89469	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	H	0.94886	3.595	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.72982	0.979;0.967	D	0.98483	1.0606	10	0.87932	D	0	.	18.8846	0.92370	0.0:0.0:1.0:0.0	.	777;777	O00222-2;O00222	.;GRM8_HUMAN	L	777	ENSP00000344173:F777L;ENSP00000409790:F777L;ENSP00000351142:F777L	ENSP00000344173:F777L	F	-	3	2	GRM8	125960341	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.879000	0.63100	2.717000	0.92951	0.655000	0.94253	TTC		0.413	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126173105	G	T	126173105	3	4	43	1	0	0	0	0	1	0	0	0	6803	1281	45	5	457	5	GRM8	7	126173105	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2826757	126173105	32965558	387	3564											
C7orf45	136263	mdanderson.org;bcgsc.ca	37	chr7	129855843	129855843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacttcctgtaagcggcaaAgcaaagacagtgcctgggat	13	7	12	9	1	0	2	0	0	0	2	1	3	1	3	2	2	3	3	2	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:129855843A>G	ENST00000297819.3	+	3	319	c.268A>G	c.(268-270)Agc>Ggc	p.S90G		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	90						integral component of membrane (GO:0016021)											TAAGCGGCAAAGCAAAGACAG	0.408																																						.											0													116	105	109					7																	129855843		2203	4300	6503	SO:0001583	missense	0			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.268A>G	7.37:g.129855843A>G	ENSP00000297819:p.Ser90Gly			Missense_Mutation	SNP	ENST00000297819.3	37	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	A	7.226	0.598261	0.13939	.	.	ENSG00000165120	ENST00000297819	T	0.49139	0.79	5.84	4.69	0.59074	.	0.722123	0.13772	N	0.363833	T	0.37571	0.1008	L	0.35723	1.085	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.23547	-1.0185	10	0.36615	T	0.2	0.0253	9.5225	0.39145	0.9201:0.0:0.0799:0.0	.	90	Q8WWF3	CG045_HUMAN	G	90	ENSP00000297819:S90G	ENSP00000297819:S90G	S	+	1	0	C7orf45	129643079	0.035000	0.19736	0.002000	0.10522	0.006000	0.05464	1.590000	0.36654	1.052000	0.40392	0.482000	0.46254	AGC		0.408	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		G	129855843	A	G	129855843	3	3	43	1	0	0	0	0	1	0	0	0	2395	72	3	2	278	2	C7orf45	7	129855843	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3682738	129855843	29282820	388	3565											
KLF14	136259	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	130417993	130417993	+	Missense_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	gatgcggggagttcgacgacGtccccggtactcgatcatat	8	9	13	11	6	1	0	1	0	0	0	4	5	2	1	2	3	2	2	2	3	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:130417993G>A	ENST00000310992.4	-	1	895	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GTTCGACGACGTCCCCGGTAC	0.672																																						.											0													51	48	49					7																	130417993		2196	4293	6489	SO:0001583	missense	136259			AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.868C>T	7.37:g.130417993G>A	ENSP00000310878:p.Arg290Cys		Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079248	0.76528	.	.	ENSG00000174595	ENST00000310992	T	0.09163	3.01	4.41	4.41	0.53225	.	0.000000	0.32055	U	0.006641	T	0.21881	0.0527	L	0.40543	1.245	0.42964	D	0.994416	D	0.89917	1.0	D	0.73708	0.981	T	0.00455	-1.1729	10	0.59425	D	0.04	.	11.2262	0.48886	0.0:0.1866:0.8134:0.0	.	290	Q8TD94	KLF14_HUMAN	C	290	ENSP00000310878:R290C	ENSP00000310878:R290C	R	-	1	0	KLF14	130068533	0.002000	0.14202	1.000000	0.80357	0.933000	0.57130	0.923000	0.28757	2.374000	0.81015	0.561000	0.74099	CGT		0.672	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		A	130417993	G	A	130417993	3	1	43	1	0	0	0	0	1	0	0	0	8342	1145	40	1	107	1	KLF14	7	130417993	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	562150	130417993	28720670	389	3566											
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	135292055	135292055	+	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	aaacatcttggagaaaggaaCggaagggagaacaggcccag	17	3	14	7	1	1	2	0	0	1	2	1	6	1	4	1	5	3	0	1	5	5	1	rs540996642	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1044					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						GAGAAAGGAACGGAAGGGAGA	0.463																																						.											0													99	94	96					7																	135292055		2203	4300	6503	SO:0001583	missense	23165			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.3131C>T	7.37:g.135292055C>T	ENSP00000285968:p.Thr1044Met		A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966911	0.74131	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.15	5.15	0.70609	.	0.047461	0.85682	D	0.000000	T	0.40423	0.1116	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.55545	0.778	T	0.14337	-1.0476	10	0.46703	T	0.11	-10.5056	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1044	Q92621	NU205_HUMAN	M	1044	ENSP00000285968:T1044M	ENSP00000285968:T1044M	T	+	2	0	NUP205	134942595	0.999000	0.42202	0.784000	0.31847	0.898000	0.52572	3.793000	0.55484	2.550000	0.86006	0.561000	0.74099	ACG		0.463	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			T	135292055	C	T	135292055	3	4	43	1	0	0	0	0	1	0	0	0	10759	536	19	1	3217	1	NUP205	7	135292055	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4874062	135292055	23846608	390	3567											
UBN2	254048	broad.mit.edu;hgsc.bcm.edu	37	chr7	138969008	138969010	+	In_Frame_Del	DEL	CAG	CAG	-																															cagcccagtggaatgaacatCagcagacagtctcccacctt																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:138969008_138969010delCAG	ENST00000473989.3	+	15	3357_3359	c.3357_3359delCAG	c.(3355-3360)atcagc>atc	p.S1120del	UBN2_ENST00000288561.8_In_Frame_Del_p.S1037del	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1120	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATGAACATCAGCAGACAGTCT	0.493																																						.											0																																										SO:0001651	inframe_deletion	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3357_3359delCAG	7.37:g.138969011_138969013delCAG	ENSP00000418648:p.Ser1120del		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	In_Frame_Del	DEL	ENST00000473989.3	37	CCDS43655.2																																																																																				0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		-	138969010	CAG	-	138969008	7	5	43	1	0	1	0	1	0	0	0	0	16890	816	29	0	3415	0	UBN2	7	138969008	In_Frame_Del	DEL	CAG	TCGA-KN-8428-01A-11D-2310-10	3676953	138969008	20169655	391	3568	96	2									
UBN2	254048	bcgsc.ca	37	chr7	138969009	138969011	+	In_Frame_Del	DEL	CAG	CAG	-																															agcccagtggaatgaacatcAgcagacagtctcccaccttg																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:138969009_138969011delCAG	ENST00000473989.3	+	15	3358_3360	c.3358_3360delCAG	c.(3358-3360)cagdel	p.Q1120del	UBN2_ENST00000288561.8_In_Frame_Del_p.Q1037del	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1120	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AATGAACATCAGCAGACAGTCTC	0.488																																						.											0																																										SO:0001651	inframe_deletion	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3358_3360delCAG	7.37:g.138969009_138969011delCAG	ENSP00000418648:p.Gln1120del		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	In_Frame_Del	DEL	ENST00000473989.3	37	CCDS43655.2																																																																																				0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		-	138969011	CAG	-	138969009	7	5	43	1	0	1	0	1	0	0	0	0	16890	188	7	0	3416	0	UBN2	7	138969009	In_Frame_Del	DEL	CAG	TCGA-KN-8428-01A-11D-2310-10	1	138969009	20169654	392	3569	96	2									
OR9A4	130075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	141619431	141619431	+	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	acctgtgttgtgattggctaCggcagctgcttgtttctcta	5	16	11	9	1	1	1	0	1	1	0	2	1	1	1	1	2	3	6	1	2	2	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:141619431C>T	ENST00000548136.1	+	1	815	c.756C>T	c.(754-756)taC>taT	p.Y252Y	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y252*(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGATTGGCTACGGCAGCTGCT	0.498																																						.											1	Substitution - Nonsense(1)	lung(1)											71	75	74					7																	141619431		2203	4300	6503	SO:0001819	synonymous_variant	130075				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.756C>T	7.37:g.141619431C>T			B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	CCDS43661.1																																																																																				0.498	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		T	141619431	C	T	141619431	2	4	43	1	0	0	0	0	0	0	0	1	11249	547	19	1		1	OR9A4	7	141619431	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2650422	141619431	17519232	393	3570											
TRYX3	136541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	141952190	141952190	+	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	tgccggggcagcagaaacttCctgccaggaaaacaataata	15	6	10	10	1	0	1	0	0	0	1	1	2	1	2	3	3	5	2	3	3	6	3	rs533423282	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:141952190C>T	ENST00000552471.1	-	5	896	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	PRSS58_ENST00000547058.2_Splice_Site_p.E193K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	193	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCAGAAACTTCCTGCCAGGAA	0.408													C|||	2	0.000399361	0	0	5008	,	,		18676	0		0	False		,,,				2504	0.002					.											0													53	54	54					7																	141952190		2203	4300	6503	SO:0001630	splice_region_variant	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.577-1G>A	7.37:g.141952190C>T			B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744598	0.89663	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88431	-2.38;-2.38	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93969	0.8069	M	0.77103	2.36	0.49798	D	0.999822	D	0.89917	1.0	D	0.85130	0.997	D	0.94161	0.7414	9	0.72032	D	0.01	.	14.1973	0.65679	0.0:1.0:0.0:0.0	.	193	Q8IYP2	PRS58_HUMAN	K	193	ENSP00000447588:E193K;ENSP00000446916:E193K	ENSP00000307206:E193K	E	-	1	0	PRSS58	141598668	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.896000	0.56266	2.723000	0.93209	0.655000	0.94253	GAA		0.408	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	Missense_Mutation	T	141952190	C	T	141952190	5	4	43	1	0	0	0	0	0	0	1	0	16601	869	30	3	152	3	TRYX3	7	141952190	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	332759	141952190	17186473	394	3571											
PRSS1	5644	mdanderson.org	37	chr7	142460764	142460764	+	Missense_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	gcaatggacagctccaaggaGttgtctcctggggtgatggc	8	9	15	9	0	1	1	0	1	1	0	3	3	2	3	2	5	1	3	2	5	2	1	rs200902389		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:142460764G>A	ENST00000311737.7	+	5	643	c.637G>A	c.(637-639)Gtt>Att	p.V213I	PRSS1_ENST00000486171.1_Missense_Mutation_p.V227I	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	213	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCTCCAAGGAGTTGTCTCCTG	0.507																																						.											0																																										SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.637G>A	7.37:g.142460764G>A	ENSP00000308720:p.Val213Ile		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.715405	0.00093	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92495	-3.05;-3.05	3.18	-2.69	0.06022	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.441828	0.26891	N	0.021970	T	0.73860	0.3641	N	0.04387	-0.21	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.65500	-0.6153	10	0.02654	T	1	.	8.608	0.33784	0.6977:0.0:0.3023:0.0	.	227;213	E7EQ64;P07477	.;TRY1_HUMAN	I	227;213;203	ENSP00000417854:V227I;ENSP00000308720:V213I	ENSP00000308720:V213I	V	+	1	0	PRSS1	142140338	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.180000	0.09754	-0.675000	0.05246	-1.152000	0.01820	GTT		0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142460764	G	A	142460764	3	1	43	1	0	0	0	0	1	0	0	0	12614	1029	36	4	655	4	PRSS1	7	142460764	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	508574	142460764	16677899	395	3572											
PRSS1	5644	mdanderson.org	37	chr7	142460778	142460778	+	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	caaggagttgtctcctggggTgatggctgtgcccagaagaa	9	9	15	8	0	1	3	0	1	1	2	2	4	1	4	2	4	1	2	2	4	3	1	rs562372415		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:142460778T>C	ENST00000311737.7	+	5	657	c.651T>C	c.(649-651)ggT>ggC	p.G217G	PRSS1_ENST00000486171.1_Silent_p.G231G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCTCCTGGGGTGATGGCTGTG	0.522													t|||	1	0.000199681	0	0	5008	,	,		16577	0.001		0	False		,,,				2504	0					.											0													81	82	81					7																	142460778		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.651T>C	7.37:g.142460778T>C			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.522	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			C	142460778	T	C	142460778	2	2	43	1	0	0	0	0	0	0	0	1	12614	1683	59	2		2	PRSS1	7	142460778	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	14	142460778	16677885	396	3573											
OR2A2	442361	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	143807471	143807471	+	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	tggtcccagactctaatcaaCgagaggagcaggagaaaatg	15	6	12	8	1	2	3	1	0	1	3	3	6	3	4	1	3	2	1	1	3	4	1	rs536132673		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:143807471C>T	ENST00000408979.2	+	1	865	c.796C>T	c.(796-798)Cga>Tga	p.R266*		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	266						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(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTCTAATCAACGAGAGGAGCA	0.512													-|||	1	0.000199681	0	0	5008	,	,		19383	0.001		0	False		,,,				2504	0					.											0													174	169	171					7																	143807471		2028	4204	6232	SO:0001587	stop_gained	442361				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.796C>T	7.37:g.143807471C>T	ENSP00000386209:p.Arg266*		B2RN85|Q8NGT6	Nonsense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417609	0.25552	.	.	ENSG00000221989	ENST00000408979	.	.	.	3.47	1.61	0.23674	.	1.769010	0.04226	U	0.334378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.2154	4.7794	0.13195	0.0:0.6092:0.0:0.3908	.	.	.	.	X	266	.	ENSP00000386209:R266X	R	+	1	2	OR2A2	143438404	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-2.818000	0.00751	0.795000	0.33922	0.511000	0.50034	CGA		0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			T	143807471	C	T	143807471	4	4	43	1	0	0	0	0	0	1	0	0	10977	528	19	1	798	1	OR2A2	7	143807471	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1346693	143807471	15331192	397	3574											
SSPO	23145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	149483252	149483252	+	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	ccctgggctgagcctgcgtcGtgctggcctcttcctgctgc	1	11	13	16	2	1	1	0	1	1	0	3	1	2	1	4	2	5	3	4	2	0	1	rs374088477		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:149483252G>A	ENST00000378016.2	+	0	3320							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.R357L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCTGCGTCGTGCTGGCCTC	0.652																																						.											1	Substitution - Missense(1)	lung(1)						G		1,4273		0,1,2136	34	41	39		3324	-8.3	0	7		39	0,8480		0,0,4240	no	coding-notMod3	SSPO	NM_198455.2		0,1,6376	AA,AG,GG		0.0,0.0234,0.0078			149483252	1,12753	2137	4240	6377			23145			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.149483252G>A			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149483252	G	A	149483252	1	1	43	0	1	0	0	0	0	0	0	0	15188	1145	40	1		1	SSPO	7	149483252	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5675781	149483252	9655411	398	3575											
TMEM176B	28959	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	150490188	150490188	+	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	ctgctcaccctcagcatctgCatgtaagctctacactcctc	8	11	5	17	0	4	0	2	0	2	0	6	0	5	0	2	0	5	5	2	0	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150490188C>T	ENST00000447204.2	-	5	960	c.588G>A	c.(586-588)atG>atA	p.M196I	TMEM176B_ENST00000429904.2_Missense_Mutation_p.M196I|TMEM176B_ENST00000450753.2_Missense_Mutation_p.M159I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.M196I|TMEM176B_ENST00000326442.5_Missense_Mutation_p.M196I|TMEM176B_ENST00000492607.1_Missense_Mutation_p.M196I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	196					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)		TCAGCATCTGCATGTAAGCTC	0.557																																						.											0													131	106	115					7																	150490188		2203	4300	6503	SO:0001583	missense	28959			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.588G>A	7.37:g.150490188C>T	ENSP00000410269:p.Met196Ile		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939542	0.52972	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	3.7	3.7	0.42460	.	0.436853	0.20880	U	0.084010	T	0.08537	0.0212	M	0.73598	2.24	0.09310	N	0.999992	P;D	0.56968	0.945;0.978	P;P	0.57620	0.76;0.824	T	0.02901	-1.1096	10	0.56958	D	0.05	-14.5952	11.6847	0.51479	0.0:1.0:0.0:0.0	.	159;196	E9PAV4;Q3YBM2	.;T176B_HUMAN	I	196;196;196;196;196;159;196	ENSP00000419258:M196I;ENSP00000318409:M196I;ENSP00000410269:M196I;ENSP00000413531:M196I;ENSP00000397810:M196I;ENSP00000404831:M159I	ENSP00000318409:M196I	M	-	3	0	TMEM176B	150121121	0.666000	0.27475	0.064000	0.19789	0.007000	0.05969	2.540000	0.45727	2.023000	0.59567	0.448000	0.29417	ATG		0.557	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		T	150490188	C	T	150490188	3	4	43	1	0	0	0	0	1	0	0	0	16090	710	25	4	236	4	TMEM176B	7	150490188	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1006936	150490188	8648475	399	3576											
KCNH2	3757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	150648045	150648045	+	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	ccgttggtgtaggaccaggcGtgctggaagtactcctcgag	7	9	15	10	3	0	0	0	0	0	0	2	3	1	2	3	4	2	4	3	4	3	3	rs202214833		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150648045G>A	ENST00000262186.5	-	8	2510	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	KCNH2_ENST00000392968.2_Silent_p.H607H|KCNH2_ENST00000430723.3_Silent_p.H703H|KCNH2_ENST00000330883.4_Silent_p.H363H	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	703					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)	AGGACCAGGCGTGCTGGAAGT	0.652													G|||	1	0.000199681	0	0	5008	,	,		17046	0.001		0	False		,,,				2504	0				GBM(137;110 1844 13671 20123 45161)	.											0													106	83	91					7																	150648045		2203	4300	6503	SO:0001819	synonymous_variant	3757			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.2109C>T	7.37:g.150648045G>A			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	CCDS5910.1																																																																																				0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		A	150648045	G	A	150648045	2	1	43	1	0	0	0	0	0	0	0	1	8032	1136	40	1		1	KCNH2	7	150648045	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	157857	150648045	8490618	400	3577											
ACCN3	9311	broad.mit.edu;mdanderson.org	37	chr7	150747623	150747623	+	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	atccacagccaggaggagccGcccatcatcgatcagctggg	10	5	12	14	2	2	0	2	0	0	0	4	3	3	2	4	3	3	1	4	3	0	0	rs149333074		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150747623G>A	ENST00000349064.5	+	3	939	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ASIC3_ENST00000357922.4_Silent_p.P247P|ASIC3_ENST00000297512.8_Silent_p.P247P	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	247					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)										AGGAGGAGCCGCCCATCATCG	0.627																																						.											0								G	,,	1,4405	2.1+/-5.4	0,1,2202	70	74	73		741,741,741	-8.7	0	7	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	247/532,247/550,247/544	150747623	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9311			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.741G>A	7.37:g.150747623G>A			B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1																																																																																				0.627	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		A	150747623	G	A	150747623	2	1	43	1	0	0	0	0	0	0	0	1	130	1074	38	1		1	ACCN3	7	150747623	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	99578	150747623	8391040	401	3578											
MYOM2	9172	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	2033488	2033488	+	Missense_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	ctgggagccacccactccccGtggcaaggacccgctcatgt	7	6	11	17	2	1	0	1	0	0	0	2	2	2	2	5	3	1	2	5	3	1	0	rs544544159	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:2033488G>A	ENST00000262113.4	+	14	1751	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	537	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCACTCCCCGTGGCAAGGAC	0.597													G|||	2	0.000399361	0	0	5008	,	,		17975	0.002		0	False		,,,				2504	0					.											0													64	57	59					8																	2033488		2203	4300	6503	SO:0001583	missense	9172				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.1610G>A	8.37:g.2033488G>A	ENSP00000262113:p.Arg537His		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637676	0.67130	.	.	ENSG00000036448	ENST00000262113	T	0.57595	0.39	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.130725	0.52532	D	0.000068	T	0.62270	0.2414	L	0.46157	1.445	0.80722	D	1	D	0.56746	0.977	P	0.53593	0.73	T	0.63743	-0.6568	10	0.72032	D	0.01	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	537	P54296	MYOM2_HUMAN	H	537	ENSP00000262113:R537H	ENSP00000262113:R537H	R	+	2	0	MYOM2	2020895	1.000000	0.71417	0.962000	0.40283	0.009000	0.06853	7.686000	0.84128	2.709000	0.92574	0.651000	0.88453	CGT		0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2033488	G	A	2033488	3	1	43	1	0	0	0	0	1	0	0	0	10092	1145	40	1	1660	1	MYOM2	8	2033488	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		2033488	144330534	402	3579											
AMAC1L2	83650	mdanderson.org	37	chr8	11189403	11189403	+	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	gggggcagaggggatcctcgCcttggtctccttcacatgtg	5	10	15	11	1	2	1	1	0	1	1	5	2	3	2	3	5	0	1	3	5	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:11189403C>A	ENST00000382435.4	+	1	1007	c.788C>A	c.(787-789)gCc>gAc	p.A263D		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	263						integral component of membrane (GO:0016021)											GGGATCCTCGCCTTGGTCTCC	0.627																																						.											0													118	114	115					8																	11189403		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.788C>A	8.37:g.11189403C>A	ENSP00000371872:p.Ala263Asp		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115895	0.37339	.	.	ENSG00000177710	ENST00000382435	T	0.69685	-0.42	.	.	.	.	0.000000	0.44285	D	0.000479	T	0.62380	0.2423	L	0.51422	1.61	0.37002	D	0.895315	P	0.38582	0.638	P	0.47015	0.534	T	0.61068	-0.7137	9	0.49607	T	0.09	-2.6207	5.8679	0.18786	0.0:0.9992:0.0:8.0E-4	.	263	Q96KT7	S35G5_HUMAN	D	263	ENSP00000371872:A263D	ENSP00000371872:A263D	A	+	2	0	SLC35G5	11226813	0.246000	0.23909	0.169000	0.22859	0.170000	0.22686	3.079000	0.50104	0.088000	0.17205	0.089000	0.15464	GCC		0.627	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11189403	C	A	11189403	3	1	43	1	0	0	0	0	1	0	0	0	560	739	26	5	790	5	AMAC1L2	8	11189403	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9155915	11189403	135174619	403	3580											
MTUS1	57509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	17503472	17503472	+	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	tggggctagggaaggagcccGaattccttggtgactgcaaa	10	8	15	8	1	0	1	0	1	0	0	1	4	1	3	2	5	2	2	2	5	4	3	rs148435996		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:17503472G>A	ENST00000262102.6	-	15	4000	c.3776C>T	c.(3775-3777)tCg>tTg	p.S1259L	MTUS1_ENST00000544260.1_Missense_Mutation_p.S404L|MTUS1_ENST00000297488.6_Missense_Mutation_p.S425L|MTUS1_ENST00000381869.3_Missense_Mutation_p.S1205L|MTUS1_ENST00000519263.1_Missense_Mutation_p.S1205L|MTUS1_ENST00000400046.1_Missense_Mutation_p.S331L|MTUS1_ENST00000381861.3_Missense_Mutation_p.S506L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1259					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GAAGGAGCCCGAATTCCTTGG	0.552													G|||	1	0.000199681	0	0	5008	,	,		14747	0		0.001	False		,,,				2504	0					.											0													60	64	63					8																	17503472		1928	4138	6066	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3776C>T	8.37:g.17503472G>A	ENSP00000262102:p.Ser1259Leu		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.90	3.502973	0.64298	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.25085	2.85;2.03;1.82;2.04;1.96;2.74;2.85	4.66	4.66	0.58398	.	0.106321	0.64402	D	0.000003	T	0.55114	0.1900	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.996	T	0.61811	-0.6986	10	0.87932	D	0	-5.5731	18.1297	0.89597	0.0:0.0:1.0:0.0	.	1205;1259;506;425	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	L	1205;404;331;425;506;1259;1205	ENSP00000371293:S1205L;ENSP00000445738:S404L;ENSP00000382921:S331L;ENSP00000297488:S425L;ENSP00000371285:S506L;ENSP00000262102:S1259L;ENSP00000430167:S1205L	ENSP00000262102:S1259L	S	-	2	0	MTUS1	17547752	1.000000	0.71417	0.089000	0.20774	0.011000	0.07611	9.104000	0.94239	2.583000	0.87209	0.655000	0.94253	TCG		0.552	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17503472	G	A	17503472	3	1	43	1	0	0	0	0	1	0	0	0	9965	1059	37	1	40	1	MTUS1	8	17503472	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6314069	17503472	128860550	404	3581											
CSGALNACT1	55790	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr8	19363316	19363316	+	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	accaccacccgggaaatccaCgcaagcagcccccggcgaac	12	1	9	19	4	0	0	0	0	0	0	1	2	1	1	6	2	3	2	6	2	3	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:19363316C>T	ENST00000454498.2	-	4	1043	c.30G>A	c.(28-30)gcG>gcA	p.A10A	CSGALNACT1_ENST00000522854.1_Silent_p.A10A|CSGALNACT1_ENST00000311540.4_Silent_p.A10A|CSGALNACT1_ENST00000544602.1_Silent_p.A10A|CSGALNACT1_ENST00000332246.6_Silent_p.A10A	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	10					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGGAAATCCACGCAAGCAGCC	0.607																																						.											0													101	106	104					8																	19363316		2203	4300	6503	SO:0001819	synonymous_variant	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.30G>A	8.37:g.19363316C>T			B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																				0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		T	19363316	C	T	19363316	2	4	43	1	0	0	0	0	0	0	0	1	3938	523	19	1		1	CSGALNACT1	8	19363316	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1859844	19363316	127000706	405	3582											
ATP6V1B2	526	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	20070346	20070346	+	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	aaccacagctgaatttctggCgtaccaatgtgagaaacatg	14	9	9	9	1	1	2	0	2	1	1	1	3	1	2	2	1	4	2	2	1	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:20070346C>T	ENST00000276390.2	+	9	897	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	286					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	GAATTTCTGGCGTACCAATGT	0.413																																					Pancreas(119;1230 1726 3901 4036 31644)	.											0													193	171	179					8																	20070346		2203	4300	6503	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.857C>T	8.37:g.20070346C>T	ENSP00000276390:p.Ala286Val		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454562	0.84209	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.79554	-1.28	4.9	4.9	0.64082	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.047194	0.85682	D	0.000000	D	0.86615	0.5975	M	0.91561	3.22	0.80722	D	1	D	0.63046	0.992	P	0.45753	0.492	D	0.90445	0.4434	10	0.87932	D	0	-20.994	17.1689	0.86824	0.0:1.0:0.0:0.0	.	286	P21281	VATB2_HUMAN	V	286;160	ENSP00000276390:A286V	ENSP00000276390:A286V	A	+	2	0	ATP6V1B2	20114626	1.000000	0.71417	0.977000	0.42913	0.482000	0.33219	7.651000	0.83577	2.699000	0.92147	0.655000	0.94253	GCG		0.413	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		T	20070346	C	T	20070346	3	4	43	1	0	0	0	0	1	0	0	0	1179	768	27	1	891	1	ATP6V1B2	8	20070346	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	707030	20070346	126293676	406	3583											
LZTS1	11178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	20110814	20110814	+	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	gccctgggtgatgttgtgggCggagcccccaaaacggcttg	6	8	16	11	2	0	1	0	1	0	0	0	2	0	2	3	4	2	2	3	4	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:20110814C>T	ENST00000381569.1	-	3	985	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	LZTS1_ENST00000265801.6_Missense_Mutation_p.A210T|LZTS1_ENST00000522290.1_Missense_Mutation_p.A210T			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	210					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)		ATGTTGTGGGCGGAGCCCCCA	0.622																																						.											0													52	56	54					8																	20110814		2203	4300	6503	SO:0001583	missense	11178			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.628G>A	8.37:g.20110814C>T	ENSP00000370981:p.Ala210Thr		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065170	0.76187	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25085	2.14;2.14;1.82	5.93	5.93	0.95920	.	0.209202	0.48767	D	0.000164	T	0.38134	0.1029	L	0.29908	0.895	0.50313	D	0.999866	D;D	0.76494	0.999;0.998	D;P	0.64506	0.926;0.825	T	0.01819	-1.1267	10	0.23891	T	0.37	-32.7352	18.9076	0.92469	0.0:1.0:0.0:0.0	.	210;210	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	T	210	ENSP00000370981:A210T;ENSP00000265801:A210T;ENSP00000429263:A210T	ENSP00000265801:A210T	A	-	1	0	LZTS1	20155094	1.000000	0.71417	0.978000	0.43139	0.906000	0.53458	5.335000	0.65929	2.815000	0.96918	0.561000	0.74099	GCC		0.622	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		T	20110814	C	T	20110814	3	4	43	1	0	0	0	0	1	0	0	0	9138	768	27	1	1170	1	LZTS1	8	20110814	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	40468	20110814	126253208	407	3584											
XPO7	23039	hgsc.bcm.edu	37	chr8	21827087	21827087	+	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	tggaacagcgaatagatattCgtaagtggagaattttctgt	13	13	11	4	2	1	2	0	0	1	2	2	5	1	3	0	2	2	1	0	2	6	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21827087C>T	ENST00000252512.9	+	3	359	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	XPO7_ENST00000433566.4_Splice_Site_p.R88W|XPO7_ENST00000434536.1_Splice_Site_p.R87W|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	87	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AATAGATATTCGTAAGTGGAG	0.398																																						.											0													79	75	76					8																	21827087		1856	4105	5961	SO:0001630	splice_region_variant	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.259+1C>T	8.37:g.21827087C>T			O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408153	0.96051	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.71341	-0.56;-0.56;-0.56	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.92833	3.35	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.903	D;P;P	0.87578	0.998;0.648;0.648	D	0.89589	0.3826	10	0.52906	T	0.07	-16.741	19.3771	0.94514	0.0:1.0:0.0:0.0	.	88;87;87	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	W	87;87;88	ENSP00000404853:R87W;ENSP00000252512:R87W;ENSP00000410249:R88W	ENSP00000252512:R87W	R	+	1	2	XPO7	21883033	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.347000	0.79356	2.753000	0.94483	0.591000	0.81541	CGG		0.398	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Missense_Mutation	T	21827087	C	T	21827087	5	4	43	1	0	0	0	0	0	0	1	0	17446	898	31	1	294	1	XPO7	8	21827087	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1716273	21827087	124536935	408	3585											
EPB49	2039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	21924625	21924625	+	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	acctcccccgggagcgtgagCccctcccgagattccagtgt	6	7	11	17	3	0	2	0	1	0	1	3	4	3	3	7	1	2	0	7	1	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21924625C>T	ENST00000523266.1	+	3	510	c.48C>T	c.(46-48)agC>agT	p.S16S	DMTN_ENST00000415253.1_Silent_p.S16S|DMTN_ENST00000519907.1_Silent_p.S16S|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000432128.1_Silent_p.S16S|DMTN_ENST00000265800.5_Silent_p.S16S|DMTN_ENST00000358242.3_Silent_p.S16S|DMTN_ENST00000381470.3_Silent_p.S16S|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000443491.2_Intron	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	16					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GGAGCGTGAGCCCCTCCCGAG	0.721																																						.											0													29	30	29					8																	21924625		2200	4299	6499	SO:0001819	synonymous_variant	2039			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.48C>T	8.37:g.21924625C>T			A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	CCDS6020.1																																																																																				0.721	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		T	21924625	C	T	21924625	2	4	43	1	0	0	0	0	0	0	0	1	5159	738	26	3		3	EPB49	8	21924625	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	97538	21924625	124439397	409	3586											
HR	55806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	21983099	21983099	+	Missense_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	aggggcaatggctcacctccGcacttgctgagagtggcagg	8	7	15	11	1	1	1	1	1	0	1	2	2	2	1	2	5	1	5	2	5	1	1	rs138624433		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21983099G>A	ENST00000381418.4	-	4	3032	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	HR_ENST00000312841.8_Missense_Mutation_p.R518W	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	518					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)		GCTCACCTCCGCACTTGCTGA	0.652																																						.											0								G	TRP/ARG,TRP/ARG	0,4398		0,0,2199	42	37	39		1552,1552	-0.2	0	8	dbSNP_134	39	2,8596	1.2+/-3.3	0,2,4297	yes	missense,missense	HR	NM_005144.4,NM_018411.4	101,101	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	518/1190,518/1135	21983099	2,12994	2199	4299	6498	SO:0001583	missense	55806			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.1552C>T	8.37:g.21983099G>A	ENSP00000370826:p.Arg518Trp		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458779	0.43634	0.0	2.33E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.75260	-0.92;-0.91	5.39	-0.245	0.13027	.	1.146510	0.06485	N	0.733587	T	0.63450	0.2512	L	0.42245	1.32	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.04013	0.001;0.001	T	0.53344	-0.8452	10	0.87932	D	0	.	3.3279	0.07074	0.2786:0.0:0.4001:0.3213	.	518;518	O43593-2;O43593	.;HAIR_HUMAN	W	518	ENSP00000370826:R518W;ENSP00000326765:R518W	ENSP00000326765:R518W	R	-	1	2	HR	22039044	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	0.061000	0.14366	0.045000	0.15804	0.561000	0.74099	CGG		0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			A	21983099	G	A	21983099	3	1	43	1	0	0	0	0	1	0	0	0	7347	1086	38	1	2081	1	HR	8	21983099	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	58474	21983099	124380923	410	3587											
LGI3	203190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	22012104	22012104	+	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	gtgcgacagtcctgtgaaggCgttgtctccaatcagtgtaa	9	11	12	9	2	2	1	1	1	1	0	4	2	3	1	2	1	1	2	2	1	3	2	rs375380959		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:22012104C>T	ENST00000306317.2	-	3	608	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LGI3_ENST00000424267.2_Missense_Mutation_p.A107T	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	107					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)		CCTGTGAAGGCGTTGTCTCCA	0.582																																						.											0								C	THR/ALA	0,4406		0,0,2203	161	147	152		319	5.5	1	8		152	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGI3	NM_139278.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	107/549	22012104	1,13005	2203	4300	6503	SO:0001583	missense	203190			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.319G>A	8.37:g.22012104C>T	ENSP00000302297:p.Ala107Thr		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729823	0.89390	0.0	1.16E-4	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;T;D	0.90620	0.2;0.32;-2.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	L	0.37697	1.125	0.47698	D	0.999499	D;D	0.71674	0.998;0.998	P;P	0.55749	0.783;0.783	D	0.91746	0.5408	10	0.87932	D	0	-25.6384	14.9559	0.71113	0.0:1.0:0.0:0.0	.	107;107	A5PLP2;Q8N145	.;LGI3_HUMAN	T	107;107;68	ENSP00000302297:A107T;ENSP00000399121:A107T;ENSP00000427817:A68T	ENSP00000302297:A107T	A	-	1	0	LGI3	22068049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.399000	0.66314	2.611000	0.88343	0.655000	0.94253	GCC		0.582	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			T	22012104	C	T	22012104	3	4	43	1	0	0	0	0	1	0	0	0	8753	768	27	1	1351	1	LGI3	8	22012104	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	29005	22012104	124351918	411	3588											
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	23174480	23174480	+	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	actttctgagcaggcaactcCggccccgtactgcactccgc	7	8	9	17	3	1	1	0	1	1	0	3	1	3	1	4	2	4	4	4	2	2	2	rs369018704		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23174480C>T	ENST00000389131.3	-	9	1987	c.1618G>A	c.(1618-1620)Gga>Aga	p.G540R		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	540	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.G540R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CAGGCAACTCCGGCCCCGTAC	0.662																																						.											1	Substitution - Missense(1)	lung(1)						C	ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	49	44	46		1618	5.2	1	8		46	0,8600		0,0,4300	no	missense	LOXL2	NM_002318.2	125	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	540/775	23174480	1,13003	2202	4300	6502	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1618G>A	8.37:g.23174480C>T	ENSP00000373783:p.Gly540Arg		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762976	0.89932	2.27E-4	0.0	ENSG00000134013	ENST00000389131	T	0.39406	1.08	5.15	5.15	0.70609	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86093	0.1551	10	0.87932	D	0	.	17.5716	0.87935	0.0:1.0:0.0:0.0	.	540;540	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	R	540	ENSP00000373783:G540R	ENSP00000373783:G540R	G	-	1	0	LOXL2	23230425	1.000000	0.71417	0.993000	0.49108	0.638000	0.38207	7.810000	0.86072	2.562000	0.86427	0.655000	0.94253	GGA		0.662	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			T	23174480	C	T	23174480	3	4	43	1	0	0	0	0	1	0	0	0	8900	661	23	1	730	1	LOXL2	8	23174480	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1162376	23174480	123189542	412	3589											
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr8	23174516	23174516	+	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	tccgccctgggggcaggccaCgtcctccccgtcgtggcggc	2	6	15	18	5	0	0	0	0	0	0	4	0	3	0	6	5	0	1	6	5	0	0	rs145002005		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23174516C>T	ENST00000389131.3	-	9	1951	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	528	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGGCAGGCCACGTCCTCCCCG	0.657																																						.											0								C	MET/VAL	0,4406		0,0,2203	65	56	59		1582	5.4	0.5	8	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL2	NM_002318.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	528/775	23174516	1,13005	2203	4300	6503	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1582G>A	8.37:g.23174516C>T	ENSP00000373783:p.Val528Met		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073941	0.76415	0.0	1.16E-4	ENSG00000134013	ENST00000389131	T	0.35605	1.3	5.39	5.39	0.77823	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.170904	0.52532	D	0.000069	T	0.56277	0.1974	M	0.81341	2.54	0.38341	D	0.944073	D;D	0.60575	0.988;0.975	P;P	0.59761	0.78;0.863	T	0.64287	-0.6443	10	0.66056	D	0.02	.	11.5723	0.50841	0.0:0.9175:0.0:0.0825	.	528;528	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	M	528	ENSP00000373783:V528M	ENSP00000373783:V528M	V	-	1	0	LOXL2	23230461	0.124000	0.22315	0.487000	0.27428	0.859000	0.49053	0.674000	0.25218	2.678000	0.91216	0.655000	0.94253	GTG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			T	23174516	C	T	23174516	3	4	43	1	0	0	0	0	1	0	0	0	8900	536	19	1	766	1	LOXL2	8	23174516	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	36	23174516	123189506	413	3590											
NEFL	4747	broad.mit.edu	37	chr8	24813771	24813771	+	RNA	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	ctgcgccttctcctgcgtgcGgatggacttgaggtcgttgc	3	12	14	12	4	1	1	0	1	1	0	3	3	1	3	2	3	4	1	2	3	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:24813771G>A	ENST00000221169.5	-	0	853				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)			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)		TCCTGCGTGCGGATGGACTTG	0.622																																						.											0													32	35	34					8																	24813771		2170	4271	6441			4747				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.24813771G>A			B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37																																																																																					0.622	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		A	24813771	G	A	24813771	1	1	43	0	1	0	0	0	0	0	0	0	10315	1116	39	1		1	NEFL	8	24813771	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1639255	24813771	121550251	414	3591											
KCTD9	54793	broad.mit.edu	37	chr8	25296836	25296836	+	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	ttacaatgagctgtccatgaCgcaagtagttcaaaatgggt	13	11	10	7	1	1	2	1	2	0	0	2	2	2	2	1	1	2	4	1	1	6	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:25296836C>T	ENST00000221200.4	-	6	678	c.458G>A	c.(457-459)cGt>cAt	p.R153H	KCTD9_ENST00000518067.1_5'Flank	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	153	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CTGTCCATGACGCAAGTAGTT	0.353																																						.											0													42	40	41					8																	25296836		2203	4300	6503	SO:0001583	missense	54793			BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"BTB/POZ domain containing"	22401	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 9"			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.458G>A	8.37:g.25296836C>T	ENSP00000221200:p.Arg153His		Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163457	0.78226	.	.	ENSG00000104756	ENST00000221200	T	0.55760	0.5	5.61	5.61	0.85477	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.85788	0.5778	H	0.99425	4.56	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.91610	0.5302	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	153	Q7L273	KCTD9_HUMAN	H	153	ENSP00000221200:R153H	ENSP00000221200:R153H	R	-	2	0	KCTD9	25352753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	CGT		0.353	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		T	25296836	C	T	25296836	3	4	43	1	0	0	0	0	1	0	0	0	8116	536	19	1	739	1	KCTD9	8	25296836	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	483065	25296836	121067186	415	3592											
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	25341585	25341585	+	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	gaagtgtttgatgaatctttGccagcaaatactccattgcg	11	13	9	8	1	1	2	0	2	1	0	2	3	2	2	2	0	4	2	2	0	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:25341585G>A	ENST00000330560.3	+	10	1701	c.1224G>A	c.(1222-1224)ttG>ttA	p.L408L	CDCA2_ENST00000380665.3_Silent_p.L393L|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	408					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)		ATGAATCTTTGCCAGCAAATA	0.433																																						.											0													90	88	88					8																	25341585		2203	4300	6503	SO:0001819	synonymous_variant	157313			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.1224G>A	8.37:g.25341585G>A			Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	CCDS6049.1																																																																																				0.433	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		A	25341585	G	A	25341585	2	1	43	1	0	0	0	0	0	0	0	1	3086	1310	46	4		4	CDCA2	8	25341585	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	44749	25341585	121022437	416	3593											
DPYSL2	1808	broad.mit.edu;hgsc.bcm.edu	37	chr8	26513189	26513189	+	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	cagcgtatcgtggcgcccccCggtggccgtgccaacatcac	6	6	12	17	5	1	0	1	0	0	0	2	0	1	0	5	3	3	1	5	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:26513189C>T	ENST00000311151.5	+	14	2098	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	DPYSL2_ENST00000521913.1_Silent_p.P526P|DPYSL2_ENST00000523027.1_Silent_p.P526P	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	562					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TGGCGCCCCCCGGTGGCCGTG	0.637											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													65	64	65					8																	26513189		2203	4299	6502	SO:0001819	synonymous_variant	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1686C>T	8.37:g.26513189C>T		787	A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	CCDS6051.1																																																																																				0.637	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		T	26513189	C	T	26513189	2	4	43	1	0	0	0	0	0	0	0	1	4747	639	23	1		1	DPYSL2	8	26513189	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1171604	26513189	119850833	417	3594											
PBK	55872	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr8	27679912	27679912	+	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	gatcttggctggctttatatCgttcttctattaagtcattt	7	20	7	7	1	4	0	1	0	3	0	5	1	4	0	0	2	0	3	0	2	4	9	rs371557868		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:27679912C>T	ENST00000301905.4	-	5	852	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	PBK_ENST00000522944.1_Missense_Mutation_p.R130Q	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GGCTTTATATCGTTCTTCTAT	0.353																																						.											0													81	77	78					8																	27679912		2202	4300	6502	SO:0001583	missense	55872			AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.389G>A	8.37:g.27679912C>T	ENSP00000301905:p.Arg130Gln		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	CCDS6063.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989672	0.74589	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	T;T	0.35236	1.32;1.32	5.22	5.22	0.72569	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	0.51176	0.1659	L	0.58669	1.825	0.80722	D	1	D;D	0.64830	0.994;0.985	P;P	0.58520	0.84;0.604	T	0.39272	-0.9622	10	0.30854	T	0.27	-3.5252	16.643	0.85134	0.0:1.0:0.0:0.0	.	130;130	B4DX68;Q96KB5	.;TOPK_HUMAN	Q	130	ENSP00000301905:R130Q;ENSP00000428489:R130Q	ENSP00000301905:R130Q	R	-	2	0	PBK	27735831	1.000000	0.71417	0.664000	0.29753	0.070000	0.16714	5.532000	0.67154	2.567000	0.86603	0.655000	0.94253	CGA		0.353	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		T	27679912	C	T	27679912	3	4	43	1	0	0	0	0	1	0	0	0	11488	884	31	1	595	1	PBK	8	27679912	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1166723	27679912	118684110	418	3595											
GTF2E2	2961	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	30436512	30436512	+	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	gttatgagtcttaaagcgtcGctttttctgtgaagcaggct	8	15	11	7	2	2	2	0	2	2	0	3	2	2	2	0	1	2	4	0	1	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:30436512G>A	ENST00000355904.4	-	8	1084	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	268	Arg/Lys-rich (basic).				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTAAAGCGTCGCTTTTTCTGT	0.453																																						.											0													163	156	159					8																	30436512		2203	4300	6503	SO:0001587	stop_gained	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.802C>T	8.37:g.30436512G>A	ENSP00000348168:p.Arg268*		D3DSV2|Q9H2B9	Nonsense_Mutation	SNP	ENST00000355904.4	37	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	G	37	6.199703	0.97371	.	.	ENSG00000197265	ENST00000355904	.	.	.	5.62	2.66	0.31614	.	0.154150	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1608	6.8209	0.23857	0.0815:0.0:0.4988:0.4197	.	.	.	.	X	268	.	ENSP00000348168:R268X	R	-	1	2	GTF2E2	30556054	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	4.482000	0.60257	0.834000	0.34852	-0.182000	0.12963	CGA		0.453	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		A	30436512	G	A	30436512	4	1	43	1	0	0	0	0	0	1	0	0	6857	1095	38	1	77	1	GTF2E2	8	30436512	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2756600	30436512	115927510	419	3596											
WRN	7486	broad.mit.edu	37	chr8	30924630	30924630	+	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	tcctgaaagacaagtctatcCgctgtagcaattggagtaaa	14	10	9	8	1	1	2	0	1	1	1	3	3	3	3	2	1	1	4	2	1	7	4	rs375762379		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:30924630C>T	ENST00000298139.5	+	6	835	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				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)		CAAGTCTATCCGCTGTAGCAA	0.413			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	.	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	81	85		586	5.8	1	8		85	0,8600		0,0,4300	no	missense	WRN	NM_000553.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	196/1433	30924630	1,13005	2203	4300	6503	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		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.586C>T	8.37:g.30924630C>T	ENSP00000298139:p.Arg196Cys		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886939	0.91814	2.27E-4	0.0	ENSG00000165392	ENST00000298139	T	0.63913	-0.07	5.82	5.82	0.92795	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.056461	0.64402	N	0.000001	D	0.85444	0.5698	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88398	0.3013	10	0.87932	D	0	-10.7416	19.6956	0.96023	0.0:1.0:0.0:0.0	.	196	Q14191	WRN_HUMAN	C	196	ENSP00000298139:R196C	ENSP00000298139:R196C	R	+	1	0	WRN	31044172	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	6.162000	0.71874	2.757000	0.94681	0.561000	0.74099	CGC		0.413	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			T	30924630	C	T	30924630	3	4	43	1	0	0	0	0	1	0	0	0	17399	652	23	1	604	1	WRN	8	30924630	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	488118	30924630	115439392	420	3597											
BRF2	55290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	37706116	37706116	+	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	taaaaggtcaattctcacctCgttgctggctgcgactaact	10	12	8	11	2	2	0	2	0	1	0	4	1	2	0	1	2	3	3	1	2	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:37706116C>T	ENST00000220659.6	-	2	332	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	BRF2_ENST00000521170.1_Missense_Mutation_p.R71Q|BRF2_ENST00000520601.1_Missense_Mutation_p.R71Q	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			ATTCTCACCTCGTTGCTGGCT	0.453																																						.											0													272	230	245					8																	37706116		2203	4300	6503	SO:0001583	missense	55290			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.212G>A	8.37:g.37706116C>T	ENSP00000220659:p.Arg71Gln		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380363	0.82682	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601;ENST00000521170	.	.	.	5.91	4.14	0.48551	Cyclin-like (2);	0.262213	0.33813	N	0.004522	T	0.64000	0.2559	L	0.56769	1.78	0.37519	D	0.917441	D	0.76494	0.999	P	0.57548	0.823	T	0.65055	-0.6261	9	0.31617	T	0.26	.	10.1671	0.42886	0.0:0.845:0.0:0.155	.	71	Q9HAW0	BRF2_HUMAN	Q	71;48;71;71	.	ENSP00000220659:R71Q	R	-	2	0	BRF2	37825274	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	2.576000	0.46033	0.855000	0.35359	-0.136000	0.14681	CGA		0.453	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		T	37706116	C	T	37706116	3	4	43	1	0	0	0	0	1	0	0	0	1511	884	31	1	1059	1	BRF2	8	37706116	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6781486	37706116	108657906	421	3598											
AP3M2	10947	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr8	42015607	42015607	+	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	aaagcctcctaccatccttcGaacggttgtcaacaccatca	12	9	5	15	2	2	0	2	0	0	0	5	1	4	0	5	1	4	1	5	1	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42015607G>A	ENST00000518421.1	+	4	713	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	AP3M2_ENST00000174653.3_Missense_Mutation_p.R141Q|AP3M2_ENST00000517922.1_Missense_Mutation_p.R141Q|AP3M2_ENST00000396926.3_Missense_Mutation_p.R141Q|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	141					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.R141Q(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCATCCTTCGAACGGTTGTC	0.468																																						.											1	Substitution - Missense(1)	large_intestine(1)											111	103	106					8																	42015607		2203	4300	6503	SO:0001583	missense	10947			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.422G>A	8.37:g.42015607G>A	ENSP00000428787:p.Arg141Gln		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535738	0.85812	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922;ENST00000517499	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-0.99;-1.01	4.79	4.79	0.61399	Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	L	0.52126	1.63	0.80722	D	1	B;P	0.48294	0.403;0.908	B;B	0.36378	0.042;0.223	T	0.76208	-0.3043	10	0.46703	T	0.11	-10.2754	18.2325	0.89938	0.0:0.0:1.0:0.0	.	141;141	E7ER80;P53677	.;AP3M2_HUMAN	Q	141;141;141;26;141;50	ENSP00000428787:R141Q;ENSP00000174653:R141Q;ENSP00000380132:R141Q;ENSP00000430616:R26Q;ENSP00000429435:R141Q	ENSP00000174653:R141Q	R	+	2	0	AP3M2	42134764	1.000000	0.71417	0.906000	0.35671	0.970000	0.65996	9.330000	0.96422	2.363000	0.80096	0.650000	0.86243	CGA		0.468	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			A	42015607	G	A	42015607	3	1	43	1	0	0	0	0	1	0	0	0	748	1058	37	1	428	1	AP3M2	8	42015607	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4309491	42015607	104348415	422	3599											
IKBKB	3551	broad.mit.edu;hgsc.bcm.edu	37	chr8	42179650	42179650	+	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	gagcttcgagaagaaagtgcGagtgatctatacgcagctca	13	8	12	8	3	2	3	1	1	1	2	3	6	2	3	0	0	4	3	0	0	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42179650G>A	ENST00000520810.1	+	18	2003	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	IKBKB_ENST00000379708.3_Missense_Mutation_p.R383Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R547Q|IKBKB_ENST00000520835.1_Missense_Mutation_p.R604Q|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	606					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic process (GO:0043066)|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 cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AAGAAAGTGCGAGTGATCTAT	0.552																																						.											0													96	96	96					8																	42179650		2203	4300	6503	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1817G>A	8.37:g.42179650G>A	ENSP00000430684:p.Arg606Gln		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795081	0.50208	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.61	4.74	0.60224	.	0.258863	0.31404	N	0.007712	T	0.29652	0.0740	L	0.53249	1.67	0.37206	D	0.90459	D;P;D;P	0.76494	0.998;0.723;0.999;0.602	P;B;P;B	0.55011	0.652;0.146;0.766;0.069	T	0.20240	-1.0281	10	0.26408	T	0.33	.	9.0543	0.36397	0.0747:0.0:0.779:0.1464	.	547;604;383;606	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	Q	606;547;604;383	ENSP00000430684:R606Q;ENSP00000404920:R547Q;ENSP00000430868:R604Q;ENSP00000369030:R383Q	ENSP00000369030:R383Q	R	+	2	0	IKBKB	42298807	0.977000	0.34250	0.988000	0.46212	0.987000	0.75469	3.596000	0.54024	1.370000	0.46153	0.655000	0.94253	CGA		0.552	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			A	42179650	G	A	42179650	3	1	43	1	0	0	0	0	1	0	0	0	7611	1058	37	1	1883	1	IKBKB	8	42179650	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	164043	42179650	104184372	423	3600											
SLC20A2	6575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	42296994	42296994	+	Missense_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	cagcccgagggtggctgcccGcagaagtgccttccgaggtc	6	6	15	14	3	0	1	0	0	0	1	2	3	1	1	4	3	3	2	4	3	1	1	rs200267443		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42296994G>A	ENST00000342228.3	-	7	1277	c.908C>T	c.(907-909)gCg>gTg	p.A303V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A303V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A303V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	303					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)			GTGGCTGCCCGCAGAAGTGCC	0.607																																						.											0													84	79	81					8																	42296994		2203	4300	6503	SO:0001583	missense	6575				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.908C>T	8.37:g.42296994G>A	ENSP00000340465:p.Ala303Val			Missense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863931	0.32884	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90385	-2.66;-2.66;-2.66	5.79	-7.61	0.01299	.	1.703850	0.02716	N	0.113497	T	0.77110	0.4082	N	0.12637	0.245	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.65487	-0.6156	10	0.28530	T	0.3	-0.0518	3.4171	0.07380	0.5448:0.0863:0.2283:0.1405	.	303	Q08357	S20A2_HUMAN	V	303	ENSP00000340465:A303V;ENSP00000429754:A303V;ENSP00000429712:A303V	ENSP00000340465:A303V	A	-	2	0	SLC20A2	42416151	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.032000	0.13732	-1.243000	0.02519	-0.781000	0.03364	GCG		0.607	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			A	42296994	G	A	42296994	3	1	43	1	0	0	0	0	1	0	0	0	14439	1087	38	1	1070	1	SLC20A2	8	42296994	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	117344	42296994	104067028	424	3601											
HOOK3	84376	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr8	42873507	42873507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatgttgcagggaatgAccctgcataaaaaggcagct	13	11	10	7	0	0	1	0	1	0	0	0	2	0	2	1	2	3	5	1	2	5	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42873507A>G	ENST00000307602.4	+	22	2223	c.2023A>G	c.(2023-2025)Acc>Gcc	p.T675A	RP11-598P20.5_ENST00000534420.1_5'Flank	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	675	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAGGGAATGACCCTGCATAA	0.413			T	RET	papillary thyroid																																	.		Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													65	64	64					8																	42873507		2203	4300	6503	SO:0001583	missense	84376			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.2023A>G	8.37:g.42873507A>G	ENSP00000305699:p.Thr675Ala		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	0.531	-0.857910	0.02610	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.16073	2.37;2.37	5.96	5.96	0.96718	.	0.183353	0.64402	D	0.000013	T	0.10723	0.0262	N	0.14661	0.345	0.43010	D	0.994546	B	0.12630	0.006	B	0.15052	0.012	T	0.12682	-1.0538	10	0.07644	T	0.81	-6.63	16.4484	0.83959	1.0:0.0:0.0:0.0	.	675	Q86VS8	HOOK3_HUMAN	A	675;153	ENSP00000305699:T675A;ENSP00000433953:T153A	ENSP00000305699:T675A	T	+	1	0	HOOK3	42992664	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.429000	0.59901	2.285000	0.76669	0.533000	0.62120	ACC		0.413	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		G	42873507	A	G	42873507	3	3	43	1	0	0	0	0	1	0	0	0	7284	275	10	2	2109	2	HOOK3	8	42873507	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	576513	42873507	103490515	425	3602											
HGSNAT	138050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	43052122	43052122	+	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	actattgtattacaaggctcGgaccaaagacatcctgattc	13	11	7	10	1	0	2	0	1	0	1	3	3	1	3	2	2	1	2	2	2	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:43052122G>A	ENST00000458501.2	+	15	1580	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	HGSNAT_ENST00000521576.1_Missense_Mutation_p.R216Q|HGSNAT_ENST00000379644.4_Missense_Mutation_p.R499Q|HGSNAT_ENST00000297798.7_Missense_Mutation_p.R231Q			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	527					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	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)			TACAAGGCTCGGACCAAAGAC	0.373																																						.											0													99	101	100					8																	43052122		1876	4112	5988	SO:0001583	missense	138050				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1580G>A	8.37:g.43052122G>A	ENSP00000389524:p.Arg527Gln		B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.751718	0.00663	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.26	1.18	0.20946	.	0.788509	0.11879	N	0.520667	T	0.59569	0.2203	N	0.00621	-1.32	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.51795	-0.8660	10	0.08381	T	0.77	-1.9362	7.8652	0.29533	0.6653:0.0:0.3347:0.0	.	527	Q68CP4	HGNAT_HUMAN	Q	527;499;216;231	ENSP00000389524:R527Q;ENSP00000368965:R499Q;ENSP00000429029:R216Q;ENSP00000297798:R231Q	ENSP00000297798:R231Q	R	+	2	0	HGSNAT	43171279	0.990000	0.36364	0.946000	0.38457	0.021000	0.10359	0.726000	0.25984	-0.117000	0.11872	-1.851000	0.00568	CGG		0.373	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		A	43052122	G	A	43052122	3	1	43	1	0	0	0	0	1	0	0	0	7088	1116	39	1	1554	1	HGSNAT	8	43052122	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	178615	43052122	103311900	426	3603											
OPRK1	4986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	54147439	54147439	+	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	gcggaagtccaaagccttcaCggggtggcacacggcaatgt	10	6	14	11	3	1	0	1	0	0	0	2	1	2	1	2	5	1	2	2	5	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:54147439C>T	ENST00000265572.3	-	3	787	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	OPRK1_ENST00000520287.1_Missense_Mutation_p.V164M|OPRK1_ENST00000524278.1_Missense_Mutation_p.V75M|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	164					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AAAGCCTTCACGGGGTGGCAC	0.488																																						.											0													116	95	102					8																	54147439		2203	4300	6503	SO:0001583	missense	4986				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.490G>A	8.37:g.54147439C>T	ENSP00000265572:p.Val164Met		E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559329	0.86335	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.20463	2.07;2.07;2.07	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.051660	0.85682	D	0.000000	T	0.49847	0.1581	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42430	-0.9452	10	0.66056	D	0.02	.	20.3732	0.98896	0.0:1.0:0.0:0.0	.	164	P41145	OPRK_HUMAN	M	164;75;164;150	ENSP00000265572:V164M;ENSP00000430923:V75M;ENSP00000429706:V164M	ENSP00000265572:V164M	V	-	1	0	OPRK1	54309992	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	5.936000	0.70153	2.809000	0.96659	0.650000	0.86243	GTG		0.488	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			T	54147439	C	T	54147439	3	4	43	1	0	0	0	0	1	0	0	0	10885	536	19	1	660	1	OPRK1	8	54147439	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11095317	54147439	92216583	427	3604											
NSMAF	8439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	59499082	59499082	+	Missense_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	tctggtgcattaaggtggccGttgtgaggtcccaaatattc	8	13	12	8	1	1	1	0	1	1	0	3	1	2	1	2	4	1	2	2	4	3	4	rs138530641		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:59499082G>A	ENST00000038176.3	-	28	2593	c.2381C>T	c.(2380-2382)aCg>aTg	p.T794M	NSMAF_ENST00000427130.2_Missense_Mutation_p.T825M	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	794					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)				TAAGGTGGCCGTTGTGAGGTC	0.408																																						.											0													207	179	188					8																	59499082		2203	4300	6503	SO:0001583	missense	8439			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.2381C>T	8.37:g.59499082G>A	ENSP00000038176:p.Thr794Met		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.95	3.920826	0.73213	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.34667	1.35;1.35	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.147538	0.64402	D	0.000007	T	0.55940	0.1952	M	0.88377	2.95	0.24266	N	0.99526	D;P	0.63046	0.992;0.916	P;B	0.47015	0.534;0.346	T	0.60464	-0.7258	9	.	.	.	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	825;794	Q92636-2;Q92636	.;FAN_HUMAN	M	794;825	ENSP00000038176:T794M;ENSP00000411012:T825M	.	T	-	2	0	NSMAF	59661636	0.998000	0.40836	0.011000	0.14972	0.610000	0.37248	8.862000	0.92283	2.823000	0.97156	0.650000	0.86243	ACG		0.408	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		A	59499082	G	A	59499082	3	1	43	1	0	0	0	0	1	0	0	0	10674	1145	40	1	388	1	NSMAF	8	59499082	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5351643	59499082	86864940	428	3605											
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	61766042	61766042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacgataagtcggaagAgtcttcccagcccgaaggta	12	7	13	9	3	1	2	0	1	1	1	3	6	2	4	2	3	1	1	2	3	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:61766042A>G	ENST00000423902.2	+	31	7237	c.6758A>G	c.(6757-6759)gAg>gGg	p.E2253G	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2253	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGTCGGAAGAGTCTTCCCAG	0.557																																						.											0													58	61	60					8																	61766042		2042	4164	6206	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6758A>G	8.37:g.61766042A>G	ENSP00000392028:p.Glu2253Gly		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562718	0.65538	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.74315	-0.83	5.41	5.41	0.78517	.	0.060626	0.64402	D	0.000003	T	0.66674	0.2813	L	0.40543	1.245	0.45806	D	0.998687	P	0.39480	0.675	B	0.37144	0.242	T	0.67201	-0.5730	10	0.35671	T	0.21	-23.5408	15.463	0.75373	1.0:0.0:0.0:0.0	.	2253	Q9P2D1	CHD7_HUMAN	G	2253	ENSP00000392028:E2253G	ENSP00000307304:E2253G	E	+	2	0	CHD7	61928596	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.393000	0.90182	2.055000	0.61198	0.533000	0.62120	GAG		0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61766042	A	G	61766042	3	3	43	1	0	0	0	0	1	0	0	0	3330	304	11	2	6876	2	CHD7	8	61766042	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2266960	61766042	84597980	429	3606											
C8orf34	116328	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	69380981	69380981	+	Missense_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	gaggactaaaccacaaagccGtgattttgatgaattgaatc	15	10	9	7	1	0	4	0	4	0	0	1	6	0	5	2	1	2	0	2	1	5	4	rs142064557		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:69380981G>A	ENST00000539993.1	+	4	953	c.404G>A	c.(403-405)cGt>cAt	p.R135H	C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000337103.4_Missense_Mutation_p.R110H|C8orf34_ENST00000348340.2_Missense_Mutation_p.R135H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R221H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	135										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCACAAAGCCGTGATTTTGAT	0.378													G|||	1	0.000199681	8e-04	0	5008	,	,		18960	0		0	False		,,,				2504	0					.											0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	97	101		662,662	3.5	1	8	dbSNP_134	101	12,8586	9.1+/-34.3	0,12,4287	yes	missense,missense	C8orf34	NM_001195639.1,NM_052958.2	29,29	0,13,6489	AA,AG,GG		0.1396,0.0227,0.1	benign,benign	221/374,221/539	69380981	13,12991	2203	4299	6502	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.404G>A	8.37:g.69380981G>A	ENSP00000438159:p.Arg135His		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	G	17.45	3.393332	0.62066	2.27E-4	0.001396	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.48836	0.8;0.84;0.83	5.51	3.45	0.39498	.	0.173617	0.52532	N	0.000061	T	0.26738	0.0654	N	0.16066	0.365	0.38916	D	0.957645	B;B	0.15473	0.013;0.001	B;B	0.13407	0.009;0.001	T	0.08743	-1.0707	9	.	.	.	-7.1312	9.0069	0.36117	0.2677:0.0:0.7323:0.0	.	135;135	Q49A92;Q49A92-3	CH034_HUMAN;.	H	221;135;135;110	ENSP00000427820:R221H;ENSP00000438159:R135H;ENSP00000337174:R110H	.	R	+	2	0	C8orf34	69543535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.461000	0.45040	1.315000	0.45114	0.591000	0.81541	CGT		0.378	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		A	69380981	G	A	69380981	3	1	43	1	0	0	0	0	1	0	0	0	2422	1145	40	1	339	1	C8orf34	8	69380981	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7614939	69380981	76983041	430	3607											
EYA1	2138	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	72129051	72129051	+	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	cataagttagcactggttgcTgcagcaggaaagccatctgt	11	10	11	9	0	1	0	0	0	1	0	1	1	1	1	1	2	5	6	1	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:72129051T>C	ENST00000340726.3	-	14	1875	c.1236A>G	c.(1234-1236)gcA>gcG	p.A412A	EYA1_ENST00000303824.7_Silent_p.A406A|EYA1_ENST00000388743.2_Silent_p.A411A|EYA1_ENST00000388741.2_Silent_p.A378A|EYA1_ENST00000388742.4_Silent_p.A412A|EYA1_ENST00000388740.3_Silent_p.A379A|EYA1_ENST00000419131.1_Silent_p.A377A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	412					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)			CACTGGTTGCTGCAGCAGGAA	0.443																																						.											0													129	118	122					8																	72129051		2203	4300	6503	SO:0001819	synonymous_variant	2138			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.1236A>G	8.37:g.72129051T>C			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	CCDS34906.1																																																																																				0.443	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		C	72129051	T	C	72129051	2	2	43	1	0	0	0	0	0	0	0	1	5328	1567	55	2		2	EYA1	8	72129051	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	2748070	72129051	74234971	431	3608											
ZFHX4	79776	broad.mit.edu	37	chr8	77763332	77763332	+	Missense_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	accgctctctgtttctgaccGtcatgtctacaagtatcgct	7	14	7	13	3	4	1	1	1	3	0	6	1	4	1	2	0	1	4	2	0	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:77763332G>A	ENST00000521891.2	+	10	4623	c.4175G>A	c.(4174-4176)cGt>cAt	p.R1392H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1347H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1366H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1347H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1347					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)	p.R1392H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTTTCTGACCGTCATGTCTAC	0.418										HNSCC(33;0.089)																												.											1	Substitution - Missense(1)	endometrium(1)											98	92	94					8																	77763332		1890	4115	6005	SO:0001583	missense	79776				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.4175G>A	8.37:g.77763332G>A	ENSP00000430497:p.Arg1392His		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316211	0.60524	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55588	0.51;0.58;0.55;0.53	4.65	4.65	0.58169	.	0.000000	0.45361	U	0.000366	T	0.72407	0.3456	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.75844	-0.3174	10	0.72032	D	0.01	.	18.1305	0.89599	0.0:0.0:1.0:0.0	.	1347;1347;1392	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1392;1392;1347;1347;1366	ENSP00000430497:R1392H;ENSP00000399605:R1347H;ENSP00000050961:R1347H;ENSP00000430848:R1366H	ENSP00000050961:R1347H	R	+	2	0	ZFHX4	77925887	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.601000	0.98297	2.593000	0.87608	0.555000	0.69702	CGT		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77763332	G	A	77763332	3	1	43	1	0	0	0	0	1	0	0	0	17632	1145	40	1	4209	1	ZFHX4	8	77763332	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5634281	77763332	68600690	432	3609											
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	77775707	77775707	+	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	tacagaatgcaattgctggtGacccagcttcctttataggc	10	12	9	10	0	0	2	0	1	0	1	1	2	1	2	2	2	4	3	2	2	5	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:77775707G>A	ENST00000521891.2	+	11	10205	c.9757G>A	c.(9757-9759)Gac>Aac	p.D3253N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3204N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3227N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3208N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3204					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)			AATTGCTGGTGACCCAGCTTC	0.458										HNSCC(33;0.089)																												.											0													163	155	157					8																	77775707		1899	4122	6021	SO:0001583	missense	79776				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.9757G>A	8.37:g.77775707G>A	ENSP00000430497:p.Asp3253Asn		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987704	0.53934	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58797	0.31;0.37;0.34;0.34	4.55	4.55	0.56014	.	0.000000	0.44688	U	0.000421	T	0.75339	0.3836	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.78443	-0.2202	10	0.66056	D	0.02	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	3208	Q86UP3-4	.	N	3253;3237;3208;3204;3227	ENSP00000430497:D3253N;ENSP00000399605:D3208N;ENSP00000050961:D3204N;ENSP00000430848:D3227N	ENSP00000050961:D3204N	D	+	1	0	ZFHX4	77938262	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.715000	0.84713	2.525000	0.85131	0.561000	0.74099	GAC		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77775707	G	A	77775707	3	1	43	1	0	0	0	0	1	0	0	0	17632	1290	45	4	9795	4	ZFHX4	8	77775707	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12375	77775707	68588315	433	3610											
IMPA1	3612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	82571603	82571603	+	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	taattaatcttcgtcgtctcGttgcaaaggtataacctgaa	12	14	7	8	3	2	1	0	1	2	0	5	1	2	1	1	1	2	3	1	1	6	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:82571603G>A	ENST00000256108.5	-	9	1282	c.817C>T	c.(817-819)Cga>Tga	p.R273*	IMPA1_ENST00000449740.2_Nonsense_Mutation_p.R332*|IMPA1_ENST00000523710.1_5'Flank|IMPA1_ENST00000311489.4_3'UTR	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	273					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCGTCGTCTCGTTGCAAAGGT	0.378																																						.											0													154	145	148					8																	82571603		2203	4300	6503	SO:0001587	stop_gained	3612				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.817C>T	8.37:g.82571603G>A	ENSP00000256108:p.Arg273*		B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Nonsense_Mutation	SNP	ENST00000256108.5	37	CCDS6231.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550978	0.45383	.	.	ENSG00000133731	ENST00000256108;ENST00000449740	.	.	.	5.03	1.01	0.19927	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.37532	D	0.91796	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1317	14.7679	0.69654	0.0:0.0:0.5226:0.4774	.	.	.	.	X	273;332	.	ENSP00000256108:R273X	R	-	1	2	IMPA1	82734158	0.424000	0.25490	0.965000	0.40720	0.445000	0.32107	0.749000	0.26320	0.270000	0.21984	0.643000	0.83706	CGA		0.378	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			A	82571603	G	A	82571603	4	1	43	1	0	0	0	0	0	1	0	0	7722	1153	40	1	20	1	IMPA1	8	82571603	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4795896	82571603	63792419	434	3611											
DECR1	1666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	91029431	91029431	+	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	cttttcacctcttcaaaaagCgatgctaccacctaatagtt	12	13	4	12	1	3	0	2	0	1	0	3	1	3	0	3	0	3	2	3	0	5	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:91029431C>T	ENST00000220764.2	+	2	237	c.149C>T	c.(148-150)gCg>gTg	p.A50V	DECR1_ENST00000522161.1_Missense_Mutation_p.A41V|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	50					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTCAAAAAGCGATGCTACCA	0.373																																						.											0													87	90	89					8																	91029431		2203	4300	6503	SO:0001583	missense	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.149C>T	8.37:g.91029431C>T	ENSP00000220764:p.Ala50Val		B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066121	0.55539	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761	D;D;D;D	0.85484	-1.78;-1.99;-1.89;-1.94	5.88	-1.48	0.08745	.	0.894138	0.09830	N	0.750295	T	0.61739	0.2371	N	0.02225	-0.63	0.20764	N	0.999859	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.49224	-0.8962	10	0.07813	T	0.8	.	11.1284	0.48333	0.0:0.3047:0.0:0.6953	.	41;50	B7Z6B8;Q16698	.;DECR_HUMAN	V	50;28;41;41	ENSP00000220764:A50V;ENSP00000430561:A28V;ENSP00000429779:A41V;ENSP00000427936:A41V	ENSP00000220764:A50V	A	+	2	0	DECR1	91098607	0.000000	0.05858	0.639000	0.29394	0.890000	0.51754	-0.171000	0.09883	-0.145000	0.11294	0.655000	0.94253	GCG		0.373	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			T	91029431	C	T	91029431	3	4	43	1	0	0	0	0	1	0	0	0	4382	768	27	1	155	1	DECR1	8	91029431	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8457828	91029431	55334591	435	3612											
KIAA1429	25962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	95541376	95541376	+	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	aatactgtctactgttcgtcGatcatcctcatcctcatcct	8	15	4	14	2	4	0	3	0	1	0	9	1	7	0	3	0	2	1	3	0	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:95541376G>A	ENST00000297591.5	-	7	877	c.802C>T	c.(802-804)Cga>Tga	p.R268*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.R268*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.R268*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	268	Glu-rich.				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)			ACTGTTCGTCGATCATCCTCA	0.438																																						.											0													481	365	404					8																	95541376		2203	4300	6503	SO:0001587	stop_gained	25962			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.802C>T	8.37:g.95541376G>A	ENSP00000297591:p.Arg268*		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274705	0.59649	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.23	2.08	0.27032	.	0.680837	0.15074	N	0.282015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.3219	3.9535	0.09379	0.0992:0.3855:0.3966:0.1187	.	.	.	.	X	268	.	ENSP00000297591:R268X	R	-	1	2	KIAA1429	95610552	0.997000	0.39634	0.986000	0.45419	0.463000	0.32649	3.068000	0.50018	0.674000	0.31244	-0.230000	0.12252	CGA		0.438	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		A	95541376	G	A	95541376	4	1	43	1	0	0	0	0	0	1	0	0	8231	1066	37	1	4762	1	KIAA1429	8	95541376	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4511945	95541376	50822646	436	3613											
MATN2	4147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	98943420	98943420	+	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	agcgtgctgtcaagaggatgCggcatctgtccacgggcacc	8	7	14	12	3	2	1	1	0	1	1	3	2	3	2	2	3	3	3	2	3	1	0	rs377009254		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:98943420C>T	ENST00000520016.1	+	2	506	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.R128W|MATN2_ENST00000521689.1_Missense_Mutation_p.R128W|MATN2_ENST00000524308.1_Missense_Mutation_p.R128W			O00339	MATN2_HUMAN	matrilin 2	128	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R128W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAAGAGGATGCGGCATCTGTC	0.587																																						.											1	Substitution - Missense(1)	large_intestine(1)						C	TRP/ARG,TRP/ARG	1,4261		0,1,2130	55	60	59		382,382	0.8	1	8		59	0,8508		0,0,4254	no	missense,missense	MATN2	NM_002380.3,NM_030583.2	101,101	0,1,6384	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	128/957,128/938	98943420	1,12769	2131	4254	6385	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.382C>T	8.37:g.98943420C>T	ENSP00000430487:p.Arg128Trp		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827179	0.71143	2.35E-4	0.0	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.97	0.813	0.18749	von Willebrand factor, type A (3);	0.081678	0.51477	D	0.000095	D	0.83594	0.5288	L	0.59436	1.845	0.31865	N	0.620505	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;P	0.64877	0.93;0.921;0.91;0.873	D	0.85514	0.1199	10	0.59425	D	0.04	-22.3411	15.5484	0.76126	0.4575:0.5425:0.0:0.0	.	128;128;128;128	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	W	128	ENSP00000429977:R128W;ENSP00000254898:R128W;ENSP00000430221:R128W;ENSP00000430487:R128W	ENSP00000254898:R128W	R	+	1	2	MATN2	99012596	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	0.484000	0.22308	-0.083000	0.12618	0.655000	0.94253	CGG		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	98943420	C	T	98943420	3	4	43	1	0	0	0	0	1	0	0	0	9334	759	27	1	388	1	MATN2	8	98943420	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3402044	98943420	47420602	437	3614											
AZIN1	51582	broad.mit.edu;mdanderson.org	37	chr8	103848546	103848546	+	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	aagagatgcctacagttcttCagggtagtgccaaacttcat	12	11	9	9	0	3	1	2	0	1	1	3	2	3	1	2	1	4	2	2	1	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:103848546C>T	ENST00000337198.5	-	6	1685	c.522G>A	c.(520-522)ctG>ctA	p.L174L	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Silent_p.L174L	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	174					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)			TACAGTTCTTCAGGGTAGTGC	0.393																																						.											0													212	195	201					8																	103848546		2203	4300	6503	SO:0001819	synonymous_variant	51582			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.522G>A	8.37:g.103848546C>T			A6NCD5|Q6IBQ7|Q96D20	Silent	SNP	ENST00000337198.5	37	CCDS6295.1																																																																																				0.393	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			T	103848546	C	T	103848546	2	4	43	1	0	0	0	0	0	0	0	1	1242	813	29	4		4	AZIN1	8	103848546	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4905126	103848546	42515476	438	3615											
SYBU	55638	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	110587782	110587782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccagattctgtggtggTggctgtcactatctcatcga	7	13	11	10	1	4	1	3	0	2	1	6	2	4	1	1	3	0	1	1	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:110587782T>C	ENST00000422135.1	-	8	1860	c.1345A>G	c.(1345-1347)Acc>Gcc	p.T449A	SYBU_ENST00000528647.1_Missense_Mutation_p.T448A|SYBU_ENST00000529690.1_Missense_Mutation_p.T319A|SYBU_ENST00000424158.2_Missense_Mutation_p.T454A|SYBU_ENST00000408908.2_Missense_Mutation_p.T449A|SYBU_ENST00000446070.2_Missense_Mutation_p.T448A|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000528331.1_Missense_Mutation_p.T330A|SYBU_ENST00000533171.1_Missense_Mutation_p.T449A|SYBU_ENST00000419099.1_Missense_Mutation_p.T448A|SYBU_ENST00000533895.1_Missense_Mutation_p.T448A|SYBU_ENST00000399066.3_Missense_Mutation_p.T446A|SYBU_ENST00000529175.1_Missense_Mutation_p.T243A|SYBU_ENST00000276646.9_Missense_Mutation_p.T449A|SYBU_ENST00000440310.1_Missense_Mutation_p.T449A|SYBU_ENST00000532779.1_Missense_Mutation_p.T381A|SYBU_ENST00000408889.3_Missense_Mutation_p.T330A|SYBU_ENST00000433638.1_Missense_Mutation_p.T449A|SYBU_ENST00000533065.1_Missense_Mutation_p.T330A	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	449					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						TCTGTGGTGGTGGCTGTCACT	0.567																																						.											0													141	145	144					8																	110587782		2092	4222	6314	SO:0001583	missense	55638			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.1345A>G	8.37:g.110587782T>C	ENSP00000407118:p.Thr449Ala		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	T	1.806	-0.475920	0.04414	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.74	-5.88	0.02290	.	0.372415	0.32593	N	0.005895	T	0.19127	0.0459	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.16166	0.016;0.009;0.004;0.009;0.005	B;B;B;B;B	0.17722	0.007;0.007;0.019;0.016;0.016	T	0.07809	-1.0753	9	0.33141	T	0.24	-0.0912	11.2815	0.49197	0.0:0.5089:0.1016:0.3895	.	319;381;448;449;446	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	A	448;454;381;446;448;330;243;449;448;449;448;449;449;449;330;330;319;449	.	ENSP00000276646:T449A	T	-	1	0	SYBU	110656958	0.683000	0.27633	0.000000	0.03702	0.009000	0.06853	0.142000	0.16096	-1.122000	0.02945	-0.326000	0.08463	ACC		0.567	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		C	110587782	T	C	110587782	3	2	43	1	0	0	0	0	1	0	0	0	15424	1696	59	2	650	2	SYBU	8	110587782	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	6739236	110587782	35776240	439	3616											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	113657336	113657336	+	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	attatttcatgaggcaaattAccttttccatgggttacatc	11	16	6	8	0	1	1	1	1	0	0	3	1	2	1	2	2	2	2	2	2	4	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:113657336A>G	ENST00000297405.5	-	20	3555		c.e20+1		CSMD3_ENST00000352409.3_Splice_Site|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						GAGGCAAATTACCTTTTCCAT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												.											0													85	85	85					8																	113657336		2203	4300	6503	SO:0001630	splice_region_variant	114788			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.3310+1T>C	8.37:g.113657336A>G			Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321813	0.41096	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4053	0.83662	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113726512	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	5.160000	0.64929	2.333000	0.79357	0.482000	0.46254	.		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	G	113657336	A	G	113657336	5	3	43	1	0	0	0	0	0	0	1	0	3946	405	14	2	8019	2	CSMD3	8	113657336	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3069554	113657336	32706686	440	3617											
TRPS1	7227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	116430676	116430676	+	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	aaaaaacaccggagcctctaCgcctctgaaacaggggaaaa	17	4	9	11	2	2	1	0	1	2	0	2	3	2	3	3	3	4	0	3	3	7	1	rs549374718		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:116430676C>T	ENST00000220888.5	-	5	2825	c.2666G>A	c.(2665-2667)cGt>cAt	p.R889H	TRPS1_ENST00000520276.1_Missense_Mutation_p.R893H|TRPS1_ENST00000395715.3_Missense_Mutation_p.R902H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R643H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					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)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome				C|||	1	0.000199681	0	0	5008	,	,		19725	0		0	False		,,,				2504	0.001					.											0													91	93	92					8																	116430676		1913	4124	6037	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	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.2666G>A	8.37:g.116430676C>T	ENSP00000220888:p.Arg889His		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	19.18	3.777453	0.70107	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.99683	-6.39;-6.39;-6.39;-6.39	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.99601	1.0978	10	0.72032	D	0.01	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	893;889;902	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	902;889;643;893	ENSP00000379065:R902H;ENSP00000220888:R889H;ENSP00000428910:R643H;ENSP00000428680:R893H	ENSP00000220888:R889H	R	-	2	0	TRPS1	116499852	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.899000	0.63245	2.755000	0.94549	0.650000	0.86243	CGT		0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116430676	C	T	116430676	3	4	43	1	0	0	0	0	1	0	0	0	16590	536	19	1	1187	1	TRPS1	8	116430676	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2773340	116430676	29933346	441	3618											
ENPP2	5168	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	120606001	120606001	+	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	caaagctttaccatggtctcCgacaaagatgacgttgacac	13	9	8	11	2	1	3	0	2	1	1	2	4	1	3	2	1	2	2	2	1	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:120606001C>T	ENST00000075322.6	-	12	1130	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	ENPP2_ENST00000427067.2_Missense_Mutation_p.G354R|ENPP2_ENST00000522826.1_Missense_Mutation_p.G358R|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000259486.6_Missense_Mutation_p.G410R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	358					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCATGGTCTCCGACAAAGATG	0.393																																					Melanoma(20;305 879 2501 4818 31020)	.											0													239	223	229					8																	120606001		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1072G>A	8.37:g.120606001C>T	ENSP00000075322:p.Gly358Arg		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261552	0.80358	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	M	0.92026	3.265	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	0.91579	0.5277	10	0.87932	D	0	.	19.2484	0.93912	0.0:1.0:0.0:0.0	.	358;358;410	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	R	410;354;358;358	ENSP00000259486:G410R;ENSP00000403315:G354R;ENSP00000428291:G358R;ENSP00000075322:G358R	ENSP00000075322:G358R	G	-	1	0	ENPP2	120675182	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	7.750000	0.85110	2.629000	0.89072	0.655000	0.94253	GGA		0.393	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120606001	C	T	120606001	3	4	43	1	0	0	0	0	1	0	0	0	5130	661	23	1	1654	1	ENPP2	8	120606001	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4175325	120606001	25758021	442	3619											
ENPP2	5168	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	120628543	120628543	+	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	tctatgattaaatttctctcGccctcgcagatgaaaagtgg	11	13	8	9	2	2	3	0	2	2	1	5	3	2	3	1	1	0	1	1	1	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:120628543G>A	ENST00000075322.6	-	8	797	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ENPP2_ENST00000427067.2_Nonsense_Mutation_p.R243*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.R247*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.R247*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	247	Substrate binding. {ECO:0000250}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTTCTCTCGCCCTCGCAGA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	.											0													132	117	122					8																	120628543		2203	4300	6503	SO:0001587	stop_gained	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.739C>T	8.37:g.120628543G>A	ENSP00000075322:p.Arg247*		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896837	0.72639	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	.	.	.	5.55	3.71	0.42584	.	0.124216	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.5977	0.62000	0.0:0.0:0.5932:0.4068	.	.	.	.	X	247;243;247;247;229	.	ENSP00000075322:R247X	R	-	1	2	ENPP2	120697724	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	2.426000	0.44731	0.662000	0.31006	0.563000	0.77884	CGA		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			A	120628543	G	A	120628543	4	1	43	1	0	0	0	0	0	1	0	0	5130	1095	38	1	2163	1	ENPP2	8	120628543	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	22542	120628543	25735479	443	3620											
ZHX2	22882	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	123964437	123964437	+	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	gctgagatcctctcgagactCggcggggtggagctcctcca	6	8	14	13	3	1	2	0	1	1	2	6	5	4	3	3	4	1	2	3	4	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:123964437C>T	ENST00000314393.4	+	3	1522	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	229	Required for homodimerization.				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)			TCTCGAGACTCGGCGGGGTGG	0.587																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	.											0													109	118	115					8																	123964437		2203	4300	6503	SO:0001819	synonymous_variant	22882			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.687C>T	8.37:g.123964437C>T				Silent	SNP	ENST00000314393.4	37	CCDS6336.1																																																																																				0.587	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		T	123964437	C	T	123964437	2	4	43	1	0	0	0	0	0	0	0	1	17673	871	31	1		1	ZHX2	8	123964437	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3335894	123964437	22399585	444	3621											
TG	7038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	133953625	133953625	+	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	ccaccacaacacttcagaaaCgctttgaacccactggtttc	12	9	5	15	1	1	2	1	1	0	1	2	2	1	2	3	1	3	2	3	1	3	3	rs375968742	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:133953625C>T	ENST00000220616.4	+	26	5111	c.5071C>T	c.(5071-5073)Cgc>Tgc	p.R1691C	TG_ENST00000377869.1_Missense_Mutation_p.R1634C|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1691					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCAGAAACGCTTTGAACC	0.463													A|||	7	0.00139776	0	0	5008	,	,		23317	0		0	False		,,,				2504	0.0072					.											0								A	CYS/ARG	1,4405		0,1,2202	150	133	139		5071	0.6	0.7	8		139	0,8600		0,0,4300	no	missense	TG	NM_003235.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1691/2769	133953625	1,13005	2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5071C>T	8.37:g.133953625C>T	ENSP00000220616:p.Arg1691Cys		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189246	0.57909	2.27E-4	0.0	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.64803	-0.12;-0.12	5.81	0.561	0.17285	.	0.450057	0.22625	N	0.057643	T	0.43055	0.1230	L	0.40543	1.245	0.24772	N	0.992862	P	0.40000	0.698	B	0.31547	0.132	T	0.33828	-0.9853	10	0.72032	D	0.01	.	5.9363	0.19167	0.4205:0.4254:0.1541:0.0	.	1691	P01266	THYG_HUMAN	C	1634;497;1691	ENSP00000367100:R1634C;ENSP00000220616:R1691C	ENSP00000220616:R1691C	R	+	1	0	TG	134022807	0.953000	0.32496	0.655000	0.29622	0.347000	0.29111	0.752000	0.26362	-0.381000	0.07882	-0.525000	0.04345	CGC		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133953625	C	T	133953625	3	4	43	1	0	0	0	0	1	0	0	0	15810	536	19	1	5173	1	TG	8	133953625	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9989188	133953625	12410397	445	3622											
ZFAT	57623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	135615108	135615108	+	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	tcctcaggtgggcctgcagcGagtgcttgaacttgaagacc	8	9	13	11	1	1	3	1	2	0	1	2	4	2	3	3	2	4	2	3	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:135615108G>A	ENST00000377838.3	-	6	1028	c.854C>T	c.(853-855)tCg>tTg	p.S285L	ZFAT_ENST00000520727.1_Missense_Mutation_p.S273L|ZFAT_ENST00000523399.1_Missense_Mutation_p.S223L|ZFAT_ENST00000520356.1_Missense_Mutation_p.S273L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.S273L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S273L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	285					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGCCTGCAGCGAGTGCTTGAA	0.507																																						.											0													99	101	100					8																	135615108		2001	4172	6173	SO:0001583	missense	57623			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.854C>T	8.37:g.135615108G>A	ENSP00000367069:p.Ser285Leu		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148713	0.94603	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	6.04	6.04	0.98038	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	0.18676	0.0448	N	0.21373	0.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.91635	0.999;0.999;0.996;0.908	T	0.03852	-1.0998	10	0.29301	T	0.29	-11.6166	19.583	0.95478	0.0:0.0:1.0:0.0	.	223;273;273;285	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	273;273;273;285;273;273;223;273	ENSP00000427879:S273L;ENSP00000427831:S273L;ENSP00000394501:S273L;ENSP00000367069:S285L;ENSP00000428483:S273L;ENSP00000429091:S223L	ENSP00000326997:S273L	S	-	2	0	ZFAT	135684290	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	8.004000	0.88535	2.873000	0.98535	0.563000	0.77884	TCG		0.507	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135615108	G	A	135615108	3	1	43	1	0	0	0	0	1	0	0	0	17629	1059	37	1	2921	1	ZFAT	8	135615108	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1661483	135615108	10748914	446	3623											
DENND3	22898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	142178160	142178160	+	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	gattcccgaaatccactttcCgctggagagcaagtgcgtgc	9	9	11	12	3	0	1	0	0	0	1	3	4	3	1	3	1	3	2	3	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:142178160C>T	ENST00000262585.2	+	13	1849	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	DENND3_ENST00000519811.1_Missense_Mutation_p.P604L|DENND3_ENST00000424248.1_Missense_Mutation_p.P472L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	524					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)			ATCCACTTTCCGCTGGAGAGC	0.527																																						.											0													119	114	116					8																	142178160		2203	4300	6503	SO:0001583	missense	22898			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.1571C>T	8.37:g.142178160C>T	ENSP00000262585:p.Pro524Leu		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854990	0.71719	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.18338	2.6;2.22;2.58	5.36	5.36	0.76844	.	0.270437	0.43110	D	0.000610	T	0.32376	0.0827	M	0.74881	2.28	0.80722	D	1	D;D;D	0.60160	0.979;0.987;0.979	P;P;P	0.48089	0.512;0.566;0.512	T	0.19192	-1.0313	10	0.87932	D	0	-7.7876	19.08	0.93178	0.0:1.0:0.0:0.0	.	604;472;524	E9PF32;A2RUS2-2;A2RUS2	.;.;DEND3_HUMAN	L	524;472;604	ENSP00000262585:P524L;ENSP00000410594:P472L;ENSP00000428714:P604L	ENSP00000262585:P524L	P	+	2	0	DENND3	142247342	1.000000	0.71417	0.895000	0.35142	0.237000	0.25408	6.606000	0.74159	2.513000	0.84729	0.462000	0.41574	CCG		0.527	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		T	142178160	C	T	142178160	3	4	43	1	0	0	0	0	1	0	0	0	4432	652	23	1	1617	1	DENND3	8	142178160	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6563052	142178160	4185862	447	3624											
FLJ43860	389690	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	142477562	142477562	+	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	atctcggaggctgcctgcacGcggaaggggctggtggagcc	6	6	18	11	3	1	0	0	0	1	0	2	3	1	3	2	7	3	3	2	7	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:142477562G>A	ENST00000430863.1	-	0	2339					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTGCCTGCACGCGGAAGGGGC	0.667																																						.											0													35	41	39					8																	142477562		2054	4193	6247			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477562G>A				Silent	SNP	ENST00000430863.1	37																																																																																					0.667	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		A	142477562	G	A	142477562	1	1	43	0	1	0	0	0	0	0	0	0	5930	1074	38	1		1	FLJ43860	8	142477562	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	299402	142477562	3886460	448	3625											
BAI1	575	broad.mit.edu	37	chr8	143566068	143566068	+	Missense_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	tggtggaggactttgtggacGtcatcggcttccgcatgaag	7	11	15	8	3	1	1	1	1	0	0	3	4	2	4	1	5	0	2	1	5	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:143566068G>A	ENST00000517894.1	+	13	3145	c.2251G>A	c.(2251-2253)Gtc>Atc	p.V751I	BAI1_ENST00000323289.5_Missense_Mutation_p.V751I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	751					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)					CTTTGTGGACGTCATCGGCTT	0.657																																						.											0													36	47	44					8																	143566068		2073	4196	6269	SO:0001583	missense	575			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.2251G>A	8.37:g.143566068G>A	ENSP00000430945:p.Val751Ile			Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	14.84	2.655014	0.47467	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.10573	2.86;2.86	4.8	4.8	0.61643	.	0.093782	0.42964	U	0.000624	T	0.14141	0.0342	L	0.32530	0.975	0.46396	D	0.999021	D	0.60160	0.987	P	0.52758	0.708	T	0.08432	-1.0722	10	0.08837	T	0.75	.	16.4232	0.83773	0.0:0.0:1.0:0.0	.	751	E9PBK0	.	I	751	ENSP00000430945:V751I;ENSP00000313046:V751I	ENSP00000313046:V751I	V	+	1	0	BAI1	143563070	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	5.244000	0.65400	2.211000	0.71520	0.313000	0.20887	GTC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		A	143566068	G	A	143566068	3	1	43	1	0	0	0	0	1	0	0	0	1298	1145	40	1	2297	1	BAI1	8	143566068	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1088506	143566068	2797954	449	3626											
JRK	8629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	143746611	143746611	+	RNA	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	agaacggctttgctgtcttcCggcaaacctatggttctgaa	9	12	10	10	2	2	2	0	1	2	1	3	2	3	2	2	3	3	4	2	3	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:143746611C>T	ENST00000507178.2	-	0	1199							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					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)	Acute lymphoblastic leukemia(644;2.31e-05)				tgctgtcttccggcaaaccta	0.557																																						.											0													19	23	22					8																	143746611		1479	2859	4338			8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746611C>T			O75565	Silent	SNP	ENST00000507178.2	37																																																																																					0.557	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		T	143746611	C	T	143746611	1	4	43	0	1	0	0	0	0	0	0	0	7964	639	23	1		1	JRK	8	143746611	RNA	SNP	C	TCGA-KN-8428-01A-11D-2310-10	180543	143746611	2617411	450	3627											
MAPK15	225689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	144800421	144800421	+	Missense_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	acatcatcagcctccttgacGtgatccgggcagagaacgac	11	7	10	13	3	2	3	2	2	0	1	4	5	4	3	3	1	2	1	3	1	1	1	rs140275267		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144800421G>A	ENST00000338033.4	+	4	354	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	MAPK15_ENST00000395107.4_Missense_Mutation_p.V79M|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.V79M	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CCTCCTTGACGTGATCCGGGC	0.617																																						.											0													71	59	63					8																	144800421		2203	4300	6503	SO:0001583	missense	225689			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.235G>A	8.37:g.144800421G>A	ENSP00000337691:p.Val79Met		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	17.45	3.391744	0.62066	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.67171	-0.25;-0.25;-0.25	5.31	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.75447	2.3	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.83512	0.0081	10	0.87932	D	0	-6.6704	14.54	0.67987	0.0:0.1599:0.8401:0.0	.	79	Q8TD08	MK15_HUMAN	M	79	ENSP00000337691:V79M;ENSP00000378539:V79M;ENSP00000378540:V79M	ENSP00000337691:V79M	V	+	1	0	MAPK15	144872409	1.000000	0.71417	0.967000	0.41034	0.077000	0.17291	6.539000	0.73856	1.228000	0.43614	-0.416000	0.06073	GTG		0.617	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		A	144800421	G	A	144800421	3	1	43	1	0	0	0	0	1	0	0	0	9277	1145	40	1	249	1	MAPK15	8	144800421	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1053810	144800421	1563601	451	3628											
EPPK1	83481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	144942815	144942815	+	Missense_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	tcttcctgctgatcagctgcGccctgaacaggtccctggct	5	11	10	15	1	2	2	1	2	1	0	4	2	4	2	3	2	4	3	3	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144942815G>A	ENST00000525985.1	-	2	4678	c.4607C>T	c.(4606-4608)gCg>gTg	p.A1536V				P58107	EPIPL_HUMAN	epiplakin 1	1536						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)			GATCAGCTGCGCCCTGAACAG	0.652																																						.											0													18	19	19					8																	144942815		2077	4207	6284	SO:0001583	missense	83481			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.4607C>T	8.37:g.144942815G>A	ENSP00000436337:p.Ala1536Val		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	G	14.69	2.611441	0.46631	.	.	ENSG00000227184	ENST00000525985	T	0.69435	-0.4	4.56	4.56	0.56223	.	.	.	.	.	T	0.54481	0.1861	L	0.36672	1.1	0.20074	N	0.999939	P	0.49862	0.929	B	0.35770	0.21	T	0.54248	-0.8322	9	0.49607	T	0.09	.	14.8833	0.70550	0.0:0.0:1.0:0.0	.	1536	E9PPU0	.	V	1536	ENSP00000436337:A1536V	ENSP00000436337:A1536V	A	-	2	0	EPPK1	145014803	0.229000	0.23729	0.010000	0.14722	0.547000	0.35210	2.624000	0.46444	2.361000	0.80049	0.591000	0.81541	GCG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144942815	G	A	144942815	3	1	43	1	0	0	0	0	1	0	0	0	5190	1087	38	1	2659	1	EPPK1	8	144942815	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	142394	144942815	1421207	452	3629											
PLEC	5339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	144995547	144995547	+	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	ctgtgcacggggtcgataacGccgcccgtggcgatctgggc	5	7	16	13	6	1	0	0	0	1	0	2	2	1	0	2	4	2	1	2	4	1	1	rs186703073	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144995547G>A	ENST00000322810.4	-	32	9022	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	PLEC_ENST00000357649.2_Silent_p.G2818G|PLEC_ENST00000356346.3_Silent_p.G2800G|PLEC_ENST00000398774.2_Silent_p.G2782G|PLEC_ENST00000354958.2_Silent_p.G2792G|PLEC_ENST00000527096.1_Silent_p.G2837G|PLEC_ENST00000345136.3_Silent_p.G2814G|PLEC_ENST00000436759.2_Silent_p.G2841G|PLEC_ENST00000354589.3_Silent_p.G2814G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2951	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						GGTCGATAACGCCGCCCGTGG	0.682													G|||	3	0.000599042	0	0.0014	5008	,	,		17217	0.001		0.001	False		,,,				2504	0					.											0								G	,,,,,,,	0,3998		0,0,1999	50	55	53		8523,8400,8376,8853,8346,8442,8454,8442	3.2	0.9	8		53	6,8288		0,6,4141	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	0,6,6140	AA,AG,GG		0.0723,0.0,0.0488	,,,,,,,	2841/4575,2800/4534,2792/4526,2951/4685,2782/4516,2814/4548,2818/4552,2814/4548	144995547	6,12286	1999	4147	6146	SO:0001819	synonymous_variant	5339			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.8853C>T	8.37:g.144995547G>A			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		A	144995547	G	A	144995547	2	1	43	1	0	0	0	0	0	0	0	1	12052	1074	38	1		1	PLEC	8	144995547	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	52732	144995547	1368475	453	3630											
SPATC1	375686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	145094825	145094825	+	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	cccaggtgtcttcctgccccCgtccccagcagtggcaaacg	6	7	10	18	2	1	0	0	0	1	0	3	0	3	0	6	2	3	2	6	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145094825C>T	ENST00000377470.3	+	2	329	c.227C>T	c.(226-228)cCg>cTg	p.P76L	SPATC1_ENST00000447830.2_Missense_Mutation_p.P76L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes. {ECO:0000250}.					centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCCTGCCCCCGTCCCCAGCA	0.627																																						.											0													68	74	72					8																	145094825		2203	4300	6503	SO:0001583	missense	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.227C>T	8.37:g.145094825C>T	ENSP00000366690:p.Pro76Leu		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658372	0.29425	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.51817	0.69;0.69	5.05	2.79	0.32731	.	0.577983	0.15653	N	0.251268	T	0.54415	0.1857	M	0.66939	2.045	0.09310	N	1	D;B	0.67145	0.996;0.354	P;B	0.57548	0.823;0.025	T	0.46205	-0.9208	10	0.66056	D	0.02	-14.049	3.7743	0.08654	0.2336:0.6174:0.0:0.149	.	76;76	B4DWW9;Q76KD6	.;SPERI_HUMAN	L	76	ENSP00000366690:P76L;ENSP00000387613:P76L	ENSP00000366690:P76L	P	+	2	0	SPATC1	145166813	0.000000	0.05858	0.006000	0.13384	0.561000	0.35649	0.087000	0.14958	1.218000	0.43458	0.650000	0.86243	CCG		0.627	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		T	145094825	C	T	145094825	3	4	43	1	0	0	0	0	1	0	0	0	15016	652	23	1	233	1	SPATC1	8	145094825	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	99278	145094825	1269197	454	3631											
GPAA1	8733	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	145138659	145138659	+	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	acggcatcctgcgggccccgCgtgctgccagcaccgagtcg	5	5	14	17	6	0	0	0	0	0	0	2	1	1	0	5	2	4	3	5	2	0	0	rs550126943		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145138659C>T	ENST00000355091.4	+	4	530	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	GPAA1_ENST00000361036.6_Missense_Mutation_p.R77C|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	137					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGGGCCCCGCGTGCTGCCAG	0.642													C|||	1	0.000199681	0	0	5008	,	,		17087	0.001		0	False		,,,				2504	0					.											0													24	28	27					8																	145138659		2135	4234	6369	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.409C>T	8.37:g.145138659C>T	ENSP00000347206:p.Arg137Cys		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152259	0.57259	.	.	ENSG00000197858	ENST00000355091;ENST00000361036;ENST00000524418	.	.	.	5.43	4.47	0.54385	.	0.056860	0.64402	D	0.000004	D	0.83529	0.5274	M	0.88979	2.995	0.49798	D	0.999822	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.978	D	0.86726	0.1945	9	0.87932	D	0	-14.242	14.4603	0.67445	0.1574:0.8426:0.0:0.0	.	137;77	O43292;O43292-2	GPAA1_HUMAN;.	C	137;77;137	.	ENSP00000347206:R137C	R	+	1	0	GPAA1	145210647	0.992000	0.36948	0.362000	0.25862	0.665000	0.39181	3.122000	0.50446	2.543000	0.85770	0.462000	0.41574	CGT		0.642	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		T	145138659	C	T	145138659	3	4	43	1	0	0	0	0	1	0	0	0	6587	768	27	1	423	1	GPAA1	8	145138659	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	43834	145138659	1225363	455	3632											
GPAA1	8733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	145139221	145139221	+	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	aaagggggcctgttgtgcacGcttcagggcaaggtggggct	7	8	18	8	1	1	0	1	0	0	0	1	0	1	0	1	6	1	5	1	6	2	2	rs189367473		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145139221G>A	ENST00000355091.4	+	6	922	c.801G>A	c.(799-801)acG>acA	p.T267T	GPAA1_ENST00000361036.6_Silent_p.T207T|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	267					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGTGCACGCTTCAGGGCA	0.627													G|||	1	0.000199681	0	0	5008	,	,		19669	0.001		0	False		,,,				2504	0					.											0													47	50	49					8																	145139221		2062	4196	6258	SO:0001819	synonymous_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.801G>A	8.37:g.145139221G>A			Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	CCDS43776.1																																																																																				0.627	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		A	145139221	G	A	145139221	2	1	43	1	0	0	0	0	0	0	0	1	6587	1074	38	1		1	GPAA1	8	145139221	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	562	145139221	1224801	456	3633											
NFKBIL2	4796	hgsc.bcm.edu;ucsc.edu	37	chr8	145668062	145668062	+	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	ggcggggcagggccttactcCgcaaggaagatgctcttcct	7	8	14	12	2	1	1	0	0	1	1	3	2	3	2	3	5	2	3	3	5	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145668062C>T	ENST00000409379.3	-	5	605	c.576G>A	c.(574-576)gcG>gcA	p.A192A	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	192					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCCTTACTCCGCAAGGAAGA	0.567																																						.											0													112	113	113					8																	145668062		2203	4300	6503	SO:0001819	synonymous_variant	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.576G>A	8.37:g.145668062C>T			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																				0.567	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		T	145668062	C	T	145668062	2	4	43	1	0	0	0	0	0	0	0	1	10382	639	23	1		1	NFKBIL2	8	145668062	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	528841	145668062	695960	457	3634											
LRRC14	9684	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr8	145746758	145746758	+	Missense_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	atgaggagaagtttgcccgcGtagaagctgagttgcaccag	11	8	14	8	2	0	4	0	2	0	2	0	5	0	4	2	1	3	5	2	1	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145746758G>A	ENST00000292524.1	+	4	1524	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	LRRC14_ENST00000529022.1_Missense_Mutation_p.V460I	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	460										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)			GTTTGCCCGCGTAGAAGCTGA	0.627																																						.											0													41	41	41					8																	145746758		2203	4299	6502	SO:0001583	missense	9684			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	ENST00000292524.1:c.1378G>A	8.37:g.145746758G>A	ENSP00000292524:p.Val460Ile		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523003	0.27211	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.01538	4.79;4.79	4.65	3.77	0.43336	.	0.223478	0.37906	N	0.001893	T	0.02494	0.0076	L	0.42632	1.34	0.09310	N	1	D	0.55605	0.972	P	0.46718	0.525	T	0.41910	-0.9482	10	0.09084	T	0.74	.	12.4806	0.55839	0.0:0.17:0.8299:0.0	.	460	Q15048	LRC14_HUMAN	I	460	ENSP00000434768:V460I;ENSP00000292524:V460I	ENSP00000292524:V460I	V	+	1	0	LRRC14	145717566	0.981000	0.34729	0.065000	0.19835	0.000000	0.00434	4.925000	0.63425	1.170000	0.42753	-0.175000	0.13238	GTA		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		A	145746758	G	A	145746758	3	1	43	1	0	0	0	0	1	0	0	0	8968	1145	40	1	1388	1	LRRC14	8	145746758	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	78696	145746758	617264	458	3635											
RPL8	6132	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	146015277	146015277	+	Missense_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	ccactttgcggccagcagggGcatctctgcggatggtggag	6	8	16	11	2	1	0	0	0	1	0	2	2	1	2	2	6	3	2	2	6	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:146015277G>A	ENST00000262584.3	-	6	918	c.686C>T	c.(685-687)gCc>gTc	p.A229V	RPL8_ENST00000529163.1_5'UTR|ZNF34_ENST00000343459.4_5'Flank|ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000394920.2_Missense_Mutation_p.A229V|RPL8_ENST00000527914.1_Missense_Mutation_p.A120V|RPL8_ENST00000528957.1_Missense_Mutation_p.A229V	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	229					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	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)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GCCAGCAGGGGCATCTCTGCG	0.592																																						.											0													108	109	109					8																	146015277		2203	4300	6503	SO:0001583	missense	6132			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.686C>T	8.37:g.146015277G>A	ENSP00000262584:p.Ala229Val		A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289544	0.95517	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000534813;ENST00000533397	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	4.85	4.85	0.62838	Translation protein SH3-like (1);Ribosomal protein L2, domain 3 (1);Ribosomal protein L2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.96239	3.79	0.80722	D	1	P;B	0.35714	0.517;0.026	P;B	0.48114	0.567;0.014	D	0.99552	1.0966	10	0.72032	D	0.01	-16.033	15.8928	0.79312	0.0:0.0:1.0:0.0	.	229;193	P62917;E9PIZ3	RL8_HUMAN;.	V	229;120;229;193;208	ENSP00000378378:A229V;ENSP00000436460:A120V;ENSP00000262584:A229V;ENSP00000435313:A208V	ENSP00000262584:A229V	A	-	2	0	RPL8	145986081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.425000	0.90270	2.422000	0.82143	0.555000	0.69702	GCC		0.592	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		A	146015277	G	A	146015277	3	1	43	1	0	0	0	0	1	0	0	0	13602	1203	42	3	91	3	RPL8	8	146015277	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	268519	146015277	348745	459	3636											
SMARCA2	6595	broad.mit.edu;mdanderson.org	37	chr9	2191375	2191375	+	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	aaagccaaacctgtagtgagCgattttgacagcgatgagga	14	8	12	7	2	0	3	0	3	0	0	0	6	0	4	2	1	4	1	2	1	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:2191375C>T	ENST00000382203.1	+	33	4913	c.4704C>T	c.(4702-4704)agC>agT	p.S1568S	SMARCA2_ENST00000357248.2_Silent_p.S1550S|SMARCA2_ENST00000382185.1_Silent_p.S214S|SMARCA2_ENST00000349721.2_Silent_p.S1568S|SMARCA2_ENST00000302401.3_Silent_p.S256S|SMARCA2_ENST00000324954.5_Silent_p.S214S|SMARCA2_ENST00000382194.1_Silent_p.S1550S|SMARCA2_ENST00000382186.1_Silent_p.S232S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1568					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)		CTGTAGTGAGCGATTTTGACA	0.493																																						.											0													176	140	152					9																	2191375		2203	4300	6503	SO:0001819	synonymous_variant	6595			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.4704C>T	9.37:g.2191375C>T			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.493	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		T	2191375	C	T	2191375	2	4	43	1	0	0	0	0	0	0	0	1	14769	767	27	1		1	SMARCA2	9	2191375	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10		2191375	139022056	460	3637											
PTPRD	5789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	8485823	8485823	+	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	tatggcccgggccctttgctCgtatgagcacgtacttttac	6	13	10	12	3	0	1	0	1	0	0	1	1	0	1	2	2	4	4	2	2	4	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:8485823C>T	ENST00000381196.4	-	25	3537	c.2994G>A	c.(2992-2994)acG>acA	p.T998T	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Silent_p.T976T|PTPRD_ENST00000360074.4_Silent_p.T985T|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Silent_p.T998T|PTPRD_ENST00000356435.5_Silent_p.T998T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	998	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCTTTGCTCGTATGAGCAC	0.493										TSP Lung(15;0.13)																												.											0													102	89	94					9																	8485823		2203	4300	6503	SO:0001819	synonymous_variant	5789			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.2994G>A	9.37:g.8485823C>T			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.493	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8485823	C	T	8485823	2	4	43	1	0	0	0	0	0	0	0	1	12799	871	31	1		1	PTPRD	9	8485823	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6294448	8485823	132727608	461	3638											
PTPRD	5789	broad.mit.edu	37	chr9	8507359	8507359	+	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	agttggcaatggtatctgaaCgtggaggtgtccaagagagc	11	9	15	6	1	1	2	0	1	1	1	2	4	2	3	1	4	2	3	1	4	4	2	rs371642520		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:8507359C>T	ENST00000381196.4	-	19	2162	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	PTPRD_ENST00000397611.3_Missense_Mutation_p.R537H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R540H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R527H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R527H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R540H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R530H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R530H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R537H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R540H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R540H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	540	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTATCTGAACGTGGAGGTGT	0.448										TSP Lung(15;0.13)																												.											0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	227	201	209		1610,1589,1619,1619,1619,1601	6.1	1	9		209	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	29,29,29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	537/1503,530/1506,540/1913,540/1506,540/1507,534/1497	8507359	2,13004	2203	4300	6503	SO:0001583	missense	5789			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.1619G>A	9.37:g.8507359C>T	ENSP00000370593:p.Arg540His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574809	0.86542	0.0	2.33E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053957	0.85682	D	0.000000	T	0.68641	0.3023	L	0.52266	1.64	0.50813	D	0.999898	D;D;D;P;D;D;B;D;D	0.76494	0.985;0.97;0.985;0.938;0.999;0.963;0.44;0.984;0.995	P;P;P;P;D;P;B;P;D	0.68353	0.666;0.666;0.666;0.666;0.955;0.536;0.069;0.767;0.957	T	0.62732	-0.6792	9	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	530;534;540;540;537;537;527;540;540	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	540;540;527;527;540;530;537;537;540;540;540;530	ENSP00000370593:R540H;ENSP00000348812:R540H;ENSP00000353187:R527H;ENSP00000351293:R527H;ENSP00000347373:R540H;ENSP00000380741:R530H;ENSP00000380735:R537H;ENSP00000440515:R537H;ENSP00000438164:R540H;ENSP00000417093:R540H;ENSP00000380731:R530H	.	R	-	2	0	PTPRD	8497359	0.999000	0.42202	0.998000	0.56505	0.958000	0.62258	1.867000	0.39499	2.880000	0.98712	0.650000	0.86243	CGT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8507359	C	T	8507359	3	4	43	1	0	0	0	0	1	0	0	0	12799	536	19	1	4287	1	PTPRD	9	8507359	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	21536	8507359	132706072	462	3639											
BNC2	54796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	16552695	16552695	+	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	caggctgctgatgtcaaacaCgacgttggactgcacaatct	11	9	10	11	2	2	1	1	1	1	0	2	3	2	2	0	2	3	4	0	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:16552695C>T	ENST00000380672.4	-	5	559	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	BNC2_ENST00000380666.2_Missense_Mutation_p.V168M|BNC2_ENST00000545497.1_Missense_Mutation_p.V73M|BNC2_ENST00000380667.2_Missense_Mutation_p.V101M	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)		ATGTCAAACACGACGTTGGAC	0.562																																						.											0													141	113	123					9																	16552695		2203	4300	6503	SO:0001583	missense	54796			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.502G>A	9.37:g.16552695C>T	ENSP00000370047:p.Val168Met			Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	34	5.384721	0.95967	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340;ENST00000451290	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.988;0.967	T	0.00018	-1.2373	10	0.87932	D	0	-19.1872	20.4366	0.99092	0.0:1.0:0.0:0.0	.	73;205;168;126;168	F5H586;Q06HC4;Q6ZN30-2;Q5H9S4;Q6ZN30	.;.;.;.;BNC2_HUMAN	M	168;125;205;196;101;73;168;168;91	ENSP00000370047:V168M;ENSP00000408370:V125M;ENSP00000370042:V101M;ENSP00000444640:V73M;ENSP00000370041:V168M	ENSP00000370041:V168M	V	-	1	0	BNC2	16542695	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.837000	0.97791	0.591000	0.81541	GTG		0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16552695	C	T	16552695	3	4	43	1	0	0	0	0	1	0	0	0	1475	536	19	1	2809	1	BNC2	9	16552695	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8045336	16552695	124660736	463	3640											
PLIN2	123	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	19121114	19121114	+	Missense_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	tggccccagtcacagtagtcGtcacagcatcttttgcccca	8	10	8	15	1	3	0	2	0	1	0	4	0	3	0	4	1	2	2	4	1	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:19121114G>A	ENST00000276914.2	-	5	538	c.359C>T	c.(358-360)aCg>aTg	p.T120M	PLIN2_ENST00000411567.1_Missense_Mutation_p.T120M	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	120					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CACAGTAGTCGTCACAGCATC	0.532																																						.											0													100	84	90					9																	19121114		2203	4300	6503	SO:0001583	missense	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.359C>T	9.37:g.19121114G>A	ENSP00000276914:p.Thr120Met		Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431934	0.62844	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144	T;T;T	0.06142	3.87;3.87;3.34	5.27	2.36	0.29203	.	0.901065	0.09834	N	0.749763	T	0.21427	0.0516	M	0.78637	2.42	0.21897	N	0.999485	P;D	0.89917	0.716;1.0	B;D	0.78314	0.207;0.991	T	0.10730	-1.0617	10	0.34782	T	0.22	.	6.7118	0.23282	0.1485:0.0:0.7089:0.1425	.	120;120	E9PG83;Q99541	.;PLIN2_HUMAN	M	120	ENSP00000415270:T120M;ENSP00000276914:T120M;ENSP00000403421:T120M	ENSP00000276914:T120M	T	-	2	0	PLIN2	19111114	1.000000	0.71417	0.457000	0.27056	0.879000	0.50718	5.870000	0.69620	0.297000	0.22615	0.555000	0.69702	ACG		0.532	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		A	19121114	G	A	19121114	3	1	43	1	0	0	0	0	1	0	0	0	12090	1145	40	1	970	1	PLIN2	9	19121114	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2568419	19121114	122092317	464	3641											
LINGO2	158038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	27949033	27949033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgtgaagcagcccataGctgtagacaccagtattgtt	12	10	11	8	0	0	2	0	1	0	1	0	3	0	3	2	1	3	5	2	1	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:27949033G>T	ENST00000379992.2	-	6	2086	c.1637C>A	c.(1636-1638)gCt>gAt	p.A546D	LINGO2_ENST00000308675.3_Missense_Mutation_p.A546D	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	546						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCAGCCCATAGCTGTAGACAC	0.448																																						.											0													125	114	118					9																	27949033		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1637C>A	9.37:g.27949033G>T	ENSP00000369328:p.Ala546Asp		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564630	0.65651	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58940	0.3;0.3	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.73962	-0.3817	9	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	546	Q7L985	LIGO2_HUMAN	D	546	ENSP00000369328:A546D;ENSP00000310126:A546D	.	A	-	2	0	LINGO2	27939033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GCT		0.448	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		T	27949033	G	T	27949033	3	4	43	1	0	0	0	0	1	0	0	0	8815	971	34	5	187	5	LINGO2	9	27949033	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8827919	27949033	113264398	465	3642											
CCL27	10850	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	34661943	34661943	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggctattgggggcttcAgcccattttccttagcatcc	6	15	9	11	0	1	0	1	0	0	0	3	0	3	0	3	3	2	3	3	3	2	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:34661943A>G	ENST00000259631.4	-	3	395	c.337T>C	c.(337-339)Tga>Cga	p.*113R	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	0					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TGGGGGCTTCAGCCCATTTTC	0.453																																						.											0													86	96	93					9																	34661943		2203	4300	6503	SO:0001578	stop_lost	10850			AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"Chemokine ligands", "Endogenous ligands"	10626	protein-coding gene	gene with protein product	"CC chemokine ILC", "IL-11 Ralpha-locus chemokine", "cutaneous T-cell attracting chemokine"	604833	"small inducible cytokine subfamily A (Cys-Cys), member 27"	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.337T>C	9.37:g.34661943A>G	ENSP00000259631:p.*113Glyext*4			Missense_Mutation	SNP	ENST00000259631.4	37	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	A	1.604	-0.525897	0.04141	.	.	ENSG00000213927	ENST00000259631	.	.	.	4.33	-7.15	0.01521	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5354	0.17007	0.3557:0.0:0.4179:0.2263	.	.	.	.	R	113	.	.	X	-	1	0	CCL27	34651943	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.630000	0.05502	-1.556000	0.01695	-0.256000	0.11100	TGA		0.453	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664		G	34661943	A	G	34661943	4	3	43	1	0	0	0	0	0	0	0	0	2899	201	7	2	5	2	CCL27	9	34661943	Nonstop_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	6712910	34661943	106551488	466	3643											
PIGO	84720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	35095327	35095327	+	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	ggggctgggcgaagtcaaatCgcagagcatctatcagcacc	11	6	13	11	2	3	1	2	0	1	1	4	2	3	1	1	3	2	4	1	3	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35095327C>T	ENST00000378617.3	-	2	630	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	PIGO_ENST00000361778.2_Missense_Mutation_p.R79Q|PIGO_ENST00000341666.3_Missense_Mutation_p.R79Q|PIGO_ENST00000298004.5_Missense_Mutation_p.R79Q|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'UTR	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	79					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)			GAAGTCAAATCGCAGAGCATC	0.602																																						.											0													102	102	102					9																	35095327		2203	4300	6503	SO:0001583	missense	84720			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.236G>A	9.37:g.35095327C>T	ENSP00000367880:p.Arg79Gln		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577399	0.86645	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.094005	0.48767	D	0.000164	T	0.59783	0.2219	M	0.91038	3.17	0.42183	D	0.991692	D;D	0.69078	0.981;0.997	B;P	0.57425	0.43;0.82	T	0.68481	-0.5397	10	0.72032	D	0.01	-37.321	9.3963	0.38404	0.0:0.8023:0.0:0.1977	.	79;79	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	Q	79	ENSP00000298004:R79Q;ENSP00000367880:R79Q;ENSP00000339382:R79Q;ENSP00000354678:R79Q	ENSP00000298004:R79Q	R	-	2	0	PIGO	35085327	0.991000	0.36638	1.000000	0.80357	0.914000	0.54420	1.499000	0.35671	2.628000	0.89032	0.563000	0.77884	CGA		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		T	35095327	C	T	35095327	3	4	43	1	0	0	0	0	1	0	0	0	11894	884	31	1	3073	1	PIGO	9	35095327	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	433384	35095327	106118104	467	3644											
UNC13B	10497	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	35396917	35396917	+	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	tcctgcgtggggccctggaaCgagataagaaggatggagta	11	7	16	7	2	0	2	0	0	0	2	1	6	1	5	2	5	2	1	2	5	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35396917C>T	ENST00000378495.3	+	27	3490	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.R1090*|UNC13B_ENST00000396787.1_Nonsense_Mutation_p.R1102*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1090	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)			GGCCCTGGAACGAGATAAGAA	0.552																																						.											0													156	154	155					9																	35396917		2203	4300	6503	SO:0001587	stop_gained	10497			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.3268C>T	9.37:g.35396917C>T	ENSP00000367756:p.Arg1090*		Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	44	10.552975	0.99426	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.7	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6976	13.3613	0.60657	0.2371:0.7629:0.0:0.0	.	.	.	.	X	1102;1090;1090;677	.	ENSP00000367756:R1090X	R	+	1	2	UNC13B	35386917	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.446000	0.35090	2.682000	0.91365	0.563000	0.77884	CGA		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		T	35396917	C	T	35396917	4	4	43	1	0	0	0	0	0	1	0	0	16982	528	19	1	3374	1	UNC13B	9	35396917	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	301590	35396917	105816514	468	3645											
C9orf100	84904	broad.mit.edu;hgsc.bcm.edu	37	chr9	35664388	35664389	+	Frame_Shift_Del	DEL	CT	CT	-																															cctgcagggtggtctgggacCtctctgagttggcagcaaat																								rs139646420	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35664388_35664389delCT	ENST00000378387.3	-	3	451_452	c.334_335delAG	c.(334-336)aggfs	p.R112fs	ARHGEF39_ENST00000343259.3_Frame_Shift_Del_p.R112fs|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.R76fs|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	112	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										GGTCTGGGACCTCTCTGAGTTG	0.545																																						.											0																																										SO:0001589	frameshift_variant	84904			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.334_335delAG	9.37:g.35664392_35664393delCT	ENSP00000367638:p.Arg112fs		Q49AG0|Q6TPQ2|Q96ST6	Frame_Shift_Del	DEL	ENST00000378387.3	37	CCDS6584.2																																																																																				0.545	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		-	35664389	CT	-	35664388	7	5	43	1	0	1	0	1	0	0	0	0	2444	681	24	0	700	0	C9orf100	9	35664388	Frame_Shift_Del	DEL	CT	TCGA-KN-8428-01A-11D-2310-10	267471	35664388	105549043	469	3646	97	2									
C9orf100	84904	bcgsc.ca	37	chr9	35664389	35664390	+	Frame_Shift_Del	DEL	CT	CT	-																															ctgcagggtggtctgggaccTctctgagttggcagcaaatt																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35664389_35664390delCT	ENST00000378387.3	-	3	450_451	c.333_334delAG	c.(331-336)gaagggfs	p.G112fs	ARHGEF39_ENST00000343259.3_Frame_Shift_Del_p.G112fs|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.G76fs|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	112	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										GTCTGGGACCTCTCTGAGTTGG	0.55																																						.											0																																										SO:0001589	frameshift_variant	84904			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.333_334delAG	9.37:g.35664389_35664390delCT	ENSP00000367638:p.Gly112fs		Q49AG0|Q6TPQ2|Q96ST6	Frame_Shift_Del	DEL	ENST00000378387.3	37	CCDS6584.2																																																																																				0.55	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		-	35664390	CT	-	35664389	7	5	43	1	0	1	0	1	0	0	0	0	2444	1550	54	0	701	0	C9orf100	9	35664389	Frame_Shift_Del	DEL	CT	TCGA-KN-8428-01A-11D-2310-10	1	35664389	105549042	470	3647	97	2									
CREB3	57704	broad.mit.edu	37	chr9	35736467	35736467	+	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	tgccctgcagtcagaagtgcCgaaagacagcacacaccagt	13	5	10	13	1	1	2	1	0	0	2	1	3	1	2	3	0	4	2	3	0	2	0	rs190901541		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35736467C>T	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Missense_Mutation_p.P287L	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						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)			TCAGAAGTGCCGAAAGACAGC	0.587											OREG0019176	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	,	,		19716	0.001		0	False		,,,				2504	0					.											0													95	88	91					9																	35736467		2203	4300	6503	SO:0001628	intergenic_variant	10488			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		9.37:g.35736467C>T		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.427	0.637911	0.14386	.	.	ENSG00000107175	ENST00000353704	T	0.64260	-0.09	5.38	2.5	0.30297	.	0.850382	0.10376	N	0.682185	T	0.47691	0.1459	L	0.31926	0.97	0.58432	D	0.999993	B;B	0.24768	0.111;0.054	B;B	0.14578	0.011;0.007	T	0.37079	-0.9721	10	0.41790	T	0.15	.	7.2495	0.26142	0.1394:0.7099:0.0:0.1506	.	311;287	O43889;O43889-2	CREB3_HUMAN;.	L	287	ENSP00000342136:P287L	ENSP00000342136:P287L	P	+	2	0	CREB3	35726467	0.000000	0.05858	0.995000	0.50966	0.182000	0.23217	-0.013000	0.12678	0.759000	0.33084	-0.137000	0.14449	CCG		0.587	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		T	35736467	C	T	35736467	1	4	43	0	1	0	0	0	0	0	0	0	3855	652	23	1		1	CREB3	9	35736467	IGR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	72078	35736467	105476964	471	3648											
CNTNAP3	79937	broad.mit.edu	37	chr9	39177437	39177437	+	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	gacggaatgccagtgctggtCgtccagcaggctgcccaggg	7	6	16	12	2	0	0	0	0	0	0	2	2	1	1	3	4	4	3	3	4	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:39177437C>T	ENST00000297668.6	-	6	878	c.805G>A	c.(805-807)Gac>Aac	p.D269N	CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D181N|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D269N|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.D269N|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.D269N	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	269	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGTGCTGGTCGTCCAGCAGG	0.507																																						.											0													70	64	66					9																	39177437		2203	4300	6503	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.805G>A	9.37:g.39177437C>T	ENSP00000297668:p.Asp269Asn		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337218	0.81911	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	3.12	3.12	0.35913	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.92919	0.7747	M	0.90425	3.115	0.38141	D	0.938449	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;0.997;0.932;0.999;0.976	D	0.94840	0.8004	9	0.66056	D	0.02	.	13.3498	0.60595	0.0:1.0:0.0:0.0	.	269;269;269;269;269	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	N	269;269;181;269;269;181	ENSP00000297668:D269N;ENSP00000366884:D269N;ENSP00000350863:D181N;ENSP00000320728:D269N;ENSP00000366887:D269N	ENSP00000297668:D269N	D	-	1	0	CNTNAP3	39167437	1.000000	0.71417	0.189000	0.23252	0.940000	0.58332	6.462000	0.73526	1.735000	0.51646	0.558000	0.71614	GAC		0.507	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		T	39177437	C	T	39177437	3	4	43	1	0	0	0	0	1	0	0	0	3648	884	31	1	3137	1	CNTNAP3	9	39177437	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3440970	39177437	102035994	472	3649											
FXN	2395	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	71668178	71668178	+	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	ctatgatgtctcctttggggTacctcttgacttcttttatt	5	20	7	9	0	3	2	0	2	3	0	4	2	3	2	2	2	1	1	2	2	3	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:71668178T>C	ENST00000377270.3	+	3	908		c.e3+2		FXN_ENST00000396364.3_Splice_Site|FXN_ENST00000498653.1_Splice_Site|FXN_ENST00000396366.2_Splice_Site	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin						adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)			large_intestine(1)|lung(1)	2						TCCTTTGGGGTACCTCTTGAC	0.413																																						.											0													174	185	182					9																	71668178		2203	4300	6503	SO:0001630	splice_region_variant	2395			U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"Friedreich ataxia"	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.384+2T>C	9.37:g.71668178T>C			A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Splice_Site	SNP	ENST00000377270.3	37	CCDS6626.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131134	0.56828	.	.	ENSG00000165060	ENST00000377270;ENST00000396364;ENST00000396366;ENST00000498653	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5414	0.67997	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FXN	70857998	1.000000	0.71417	0.993000	0.49108	0.685000	0.39939	5.378000	0.66190	2.076000	0.62316	0.523000	0.50628	.		0.413	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052568.2	NM_000144	Intron	C	71668178	T	C	71668178	5	2	43	1	0	0	0	0	0	0	1	0	6114	1652	57	2	396	2	FXN	9	71668178	Splice_Site	SNP	T	TCGA-KN-8428-01A-11D-2310-10	32490741	71668178	69545253	473	3650											
PCSK5	5125	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	78641898	78641898	+	Missense_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	atgctctggcaagttgcgacGtgaatgggaatgacttggac	10	10	14	7	2	1	2	0	2	1	0	1	5	1	4	0	3	2	3	0	3	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:78641898G>A	ENST00000545128.1	+	5	1115	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCSK5_ENST00000376767.3_Missense_Mutation_p.V193M|PCSK5_ENST00000376752.4_Missense_Mutation_p.V193M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	193	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAGTTGCGACGTGAATGGGAA	0.512																																						.											0													147	115	126					9																	78641898		2203	4300	6503	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.577G>A	9.37:g.78641898G>A	ENSP00000446280:p.Val193Met		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757070	0.89843	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.88046	-2.33;-2.33;-2.33	5.28	5.28	0.74379	.	.	.	.	.	D	0.87103	0.6094	L	0.45470	1.425	0.58432	D	0.999999	P;D	0.55800	0.946;0.973	P;P	0.46585	0.466;0.521	D	0.88798	0.3283	9	0.87932	D	0	.	19.2859	0.94069	0.0:0.0:1.0:0.0	.	193;193	Q92824-2;B1AMG5	.;.	M	193	ENSP00000446280:V193M;ENSP00000365958:V193M;ENSP00000365943:V193M	ENSP00000365943:V193M	V	+	1	0	PCSK5	77831718	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.569000	0.82380	2.624000	0.88883	0.655000	0.94253	GTG		0.512	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	78641898	G	A	78641898	3	1	43	1	0	0	0	0	1	0	0	0	11603	1145	40	1	595	1	PCSK5	9	78641898	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6973720	78641898	62571533	474	3651											
PRUNE2	158471	broad.mit.edu	37	chr9	79322501	79322501	+	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	tcttgatacccagaactgggTtgctggccccaggaggacag	9	8	13	11	0	1	2	0	1	1	1	1	4	1	4	3	4	3	2	3	4	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:79322501T>C	ENST00000376718.3	-	8	4812	c.4689A>G	c.(4687-4689)caA>caG	p.Q1563Q	PRUNE2_ENST00000428286.1_Silent_p.Q1204Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1563					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						CAGAACTGGGTTGCTGGCCCC	0.413																																						.											0													74	65	68					9																	79322501		1568	3582	5150	SO:0001819	synonymous_variant	158471			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.4689A>G	9.37:g.79322501T>C			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.816420	0.00595	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.8	2.31	0.28768	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18429	-1.0337	4	.	.	.	0.7131	3.6481	0.08192	0.1698:0.2838:0.0:0.5464	.	.	.	.	A	885	.	.	T	-	1	0	PRUNE2	78512321	0.003000	0.15002	0.006000	0.13384	0.029000	0.11900	-0.108000	0.10857	1.028000	0.39785	0.533000	0.62120	ACC		0.413	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79322501	T	C	79322501	2	2	43	1	0	0	0	0	0	0	0	1	12641	1722	60	2		2	PRUNE2	9	79322501	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	680603	79322501	61890930	475	3652											
C9orf64	84267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	86571236	86571236	+	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	cagttgaccgcggcctcgtcGgccgccctggggttcagctc	3	8	14	16	5	1	1	1	1	0	0	4	1	1	1	4	4	1	3	4	4	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:86571236G>A	ENST00000376344.3	-	1	396	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647																																						.											0													63	65	65					9																	86571236		1987	4159	6146	SO:0001819	synonymous_variant	84267			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.180C>T	9.37:g.86571236G>A			B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	ENST00000376344.3	37	CCDS6666.2																																																																																				0.647	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		A	86571236	G	A	86571236	2	1	43	1	0	0	0	0	0	0	0	1	2489	1103	39	1		1	C9orf64	9	86571236	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7248735	86571236	54642195	476	3653											
SLC28A3	64078	broad.mit.edu	37	chr9	86895780	86895780	+	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	ccacagagagcgtaagtggcGattatctcagaacgaatctg	13	8	11	9	3	2	2	1	0	2	2	3	5	2	2	1	1	2	1	1	1	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:86895780G>A	ENST00000376238.4	-	15	1714	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.I486I	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	555					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)	CGTAAGTGGCGATTATCTCAG	0.428																																					Ovarian(106;425 1539 34835 42413 43572)	.											0													160	134	143					9																	86895780		2203	4300	6503	SO:0001819	synonymous_variant	64078			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.1665C>T	9.37:g.86895780G>A			A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	CCDS6670.1																																																																																				0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		A	86895780	G	A	86895780	2	1	43	1	0	0	0	0	0	0	0	1	14533	1048	37	1		1	SLC28A3	9	86895780	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	324544	86895780	54317651	477	3654											
SHC3	53358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	91692802	91692802	+	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	accaggcacagcttcacagaCgcggctgatggcttccctta	9	8	10	14	2	1	2	1	1	0	1	2	2	2	2	2	3	1	4	2	3	1	3	rs539726812		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:91692802C>T	ENST00000375835.4	-	3	868	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	188	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GCTTCACAGACGCGGCTGATG	0.473																																						.											0													123	116	118					9																	91692802		2203	4300	6503	SO:0001583	missense	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.562G>A	9.37:g.91692802C>T	ENSP00000364995:p.Val188Ile		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186566	0.57909	.	.	ENSG00000148082	ENST00000375835	T	0.22336	1.96	5.64	4.61	0.57282	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061292	0.64402	N	0.000003	T	0.22166	0.0534	L	0.59436	1.845	0.80722	D	1	B	0.23128	0.08	B	0.26416	0.069	T	0.04178	-1.0971	10	0.54805	T	0.06	-34.1954	8.8237	0.35041	0.0:0.7953:0.0:0.2047	.	188	Q92529	SHC3_HUMAN	I	188	ENSP00000364995:V188I	ENSP00000364995:V188I	V	-	1	0	SHC3	90882622	1.000000	0.71417	0.833000	0.33012	0.900000	0.52787	2.887000	0.48586	1.364000	0.46038	0.650000	0.86243	GTC		0.473	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		T	91692802	C	T	91692802	3	4	43	1	0	0	0	0	1	0	0	0	14272	536	19	1	1262	1	SHC3	9	91692802	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4797022	91692802	49520629	478	3655											
FAM120A	23196	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr9	96326776	96326776	+	Missense_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	aagtacagacagcgcttgccGcagagaagctgctctggagg	11	6	14	10	2	1	2	0	0	1	2	1	4	1	3	1	2	5	5	1	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:96326776G>A	ENST00000277165.6	+	18	3505	c.3311G>A	c.(3310-3312)cGc>cAc	p.R1104H	AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000333936.5_Missense_Mutation_p.R1132H|FAM120A_ENST00000340893.4_Missense_Mutation_p.R1058H	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1104	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						AGCGCTTGCCGCAGAGAAGCT	0.433																																						.											0													62	67	65					9																	96326776		2203	4299	6502	SO:0001583	missense	23196			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.3311G>A	9.37:g.96326776G>A	ENSP00000277165:p.Arg1104His		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	0.412	-0.912889	0.02415	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.42131	1.57;1.57;1.57;0.98	5.54	1.27	0.21489	.	0.455677	0.22483	N	0.059479	T	0.15696	0.0378	N	0.02916	-0.46	0.30686	N	0.751839	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.14811	-1.0459	10	0.23302	T	0.38	-3.7237	6.753	0.23497	0.647:0.0:0.353:0.0	.	1058;1132;1104	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	H	1104;1132;1058;480	ENSP00000277165:R1104H;ENSP00000334918:R1132H;ENSP00000344698:R1058H;ENSP00000412440:R480H	ENSP00000277165:R1104H	R	+	2	0	FAM120A	95366597	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.318000	0.51975	0.312000	0.23038	-0.150000	0.13652	CGC		0.433	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		A	96326776	G	A	96326776	3	1	43	1	0	0	0	0	1	0	0	0	5415	1087	38	1	3381	1	FAM120A	9	96326776	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4633974	96326776	44886655	479	3656											
TEX10	54881	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr9	103064527	103064527	+	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	ggatgcccagtgatatacacGttgaagcagtaatgtaagtc	13	10	11	7	1	0	2	0	2	0	0	1	3	0	3	1	1	3	4	1	1	5	5	rs373037476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:103064527G>A	ENST00000374902.4	-	15	2912	c.2736C>T	c.(2734-2736)aaC>aaT	p.N912N	TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Silent_p.N896N	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	912						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGATATACACGTTGAAGCAGT	0.448																																						.											0								G	,	1,4405	2.1+/-5.4	0,1,2202	150	128	136		2688,2736	-5.6	0	9		136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TEX10	NM_001161584.1,NM_017746.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	896/914,912/930	103064527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2736C>T	9.37:g.103064527G>A			B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	CCDS6748.1																																																																																				0.448	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		A	103064527	G	A	103064527	2	1	43	1	0	0	0	0	0	0	0	1	15769	1136	40	1		1	TEX10	9	103064527	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6737751	103064527	38148904	480	3657											
MURC	347273	bcgsc.ca	37	chr9	103348063	103348063	+	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	tcaggagaagtttcggtgtcCgacatccctgtctgttgtta	7	14	11	9	2	2	1	1	0	1	1	5	3	4	1	2	2	0	3	2	2	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:103348063C>T	ENST00000307584.5	+	2	490	c.425C>T	c.(424-426)cCg>cTg	p.P142L		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	142					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)				TTTCGGTGTCCGACATCCCTG	0.423																																						.											0													54	51	52					9																	103348063		2203	4300	6503	SO:0001583	missense	347273			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.425C>T	9.37:g.103348063C>T	ENSP00000418668:p.Pro142Leu		B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401722	0.62288	.	.	ENSG00000170681	ENST00000307584	T	0.65732	-0.17	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.82155	-0.0597	10	0.87932	D	0	-6.8673	16.0689	0.80909	0.0:1.0:0.0:0.0	.	142	Q5BKX8	MURC_HUMAN	L	142	ENSP00000418668:P142L	ENSP00000418668:P142L	P	+	2	0	MURC	102387884	0.996000	0.38824	0.588000	0.28705	0.704000	0.40688	3.603000	0.54074	2.463000	0.83235	0.561000	0.74099	CCG		0.423	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		T	103348063	C	T	103348063	3	4	43	1	0	0	0	0	1	0	0	0	9987	652	23	1	431	1	MURC	9	103348063	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	283536	103348063	37865368	481	3658											
MRPL50	54534	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	104153053	104153053	+	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	ttcaggtggtgtgtatgctcGgcttcgtaaaggtggacaca	8	12	14	7	2	1	0	1	0	0	0	3	1	1	1	0	5	1	4	0	5	3	4	rs150313404		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:104153053G>A	ENST00000374865.4	-	2	193	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MRPL50_ENST00000539624.1_Nonsense_Mutation_p.R58*	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	58						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GTGTATGCTCGGCTTCGTAAA	0.418																																						.											0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	141	141	141		172	3.8	0.7	9	dbSNP_134	141	0,8600		0,0,4300	no	stop-gained	MRPL50	NM_019051.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		58/159	104153053	1,13005	2203	4300	6503	SO:0001587	stop_gained	54534			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"Mitochondrial ribosomal proteins / large subunits"	16654	protein-coding gene	gene with protein product	"mitochondrial 39S ribosomal protein L50"	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.172C>T	9.37:g.104153053G>A	ENSP00000363999:p.Arg58*		B7Z358|Q5T7E0|Q9NX15	Nonsense_Mutation	SNP	ENST00000374865.4	37	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114943	0.77210	2.27E-4	0.0	ENSG00000136897	ENST00000374865;ENST00000539624	.	.	.	5.62	3.75	0.43078	.	0.350015	0.23964	N	0.042831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.881	6.6634	0.23027	0.083:0.0:0.6018:0.3152	.	.	.	.	X	58	.	ENSP00000363999:R58X	R	-	1	2	MRPL50	103192874	0.926000	0.31397	0.712000	0.30502	0.791000	0.44710	1.265000	0.33027	0.702000	0.31825	0.557000	0.71058	CGA		0.418	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		A	104153053	G	A	104153053	4	1	43	1	0	0	0	0	0	1	0	0	9814	1124	39	1	308	1	MRPL50	9	104153053	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	804990	104153053	37060378	482	3659											
RGS3	5998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	116353631	116353631	+	Missense_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	agatgagcggggctgacaccGttggggatgatgacgaagcc	10	6	17	8	3	0	5	0	4	0	1	0	7	0	6	2	4	2	2	2	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:116353631G>A	ENST00000374140.2	+	22	3243	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I	RGS3_ENST00000462143.1_Missense_Mutation_p.V333I|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.V731I|RGS3_ENST00000394646.3_Missense_Mutation_p.V405I|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000350696.5_Missense_Mutation_p.V1012I|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.V333I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1012					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						GGCTGACACCGTTGGGGATGA	0.572																																						.											0													99	89	92					9																	116353631		2203	4300	6503	SO:0001583	missense	5998			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.3034G>A	9.37:g.116353631G>A	ENSP00000363255:p.Val1012Ile		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	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515463	0.12944	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T;T	0.76709	0.95;0.95;0.45;2.55;0.44;0.44;-1.04	4.53	2.27	0.28462	.	0.435553	0.19907	N	0.103365	T	0.54631	0.1870	N	0.22421	0.69	0.09310	N	1	P;B;B;P;B;B;B	0.35700	0.516;0.002;0.335;0.516;0.335;0.226;0.342	B;B;B;B;B;B;B	0.22386	0.039;0.0;0.038;0.039;0.014;0.028;0.028	T	0.45716	-0.9242	10	0.38643	T	0.18	.	5.2355	0.15445	0.1607:0.2259:0.6134:0.0	.	351;405;908;333;731;902;1012	B4DWF9;B3KUB2;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;.;RGS3_HUMAN	I	1012;1012;731;405;180;333;333;178	ENSP00000363255:V1012I;ENSP00000259406:V1012I;ENSP00000340284:V731I;ENSP00000378141:V405I;ENSP00000420356:V333I;ENSP00000363249:V333I;ENSP00000417994:V178I	ENSP00000340284:V731I	V	+	1	0	RGS3	115393452	0.601000	0.26907	0.009000	0.14445	0.046000	0.14306	1.485000	0.35519	0.865000	0.35603	0.555000	0.69702	GTT		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		A	116353631	G	A	116353631	3	1	43	1	0	0	0	0	1	0	0	0	13306	1145	40	1	3369	1	RGS3	9	116353631	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12200578	116353631	24859800	483	3660											
ZNF618	114991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	116812166	116812166	+	Missense_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	ctgctgccgtcgagaaccccGcagctcaggaagatgatcgg	9	6	13	13	4	1	3	1	1	0	2	3	5	1	4	3	2	4	3	3	2	2	0	rs372290471		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:116812166G>A	ENST00000374126.5	+	15	2683	c.2584G>A	c.(2584-2586)Gca>Aca	p.A862T	ZNF618_ENST00000288466.7_Missense_Mutation_p.A769T|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	862					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						CGAGAACCCCGCAGCTCAGGA	0.597																																						.											0								G	THR/ALA	1,3961		0,1,1980	74	81	79		2305	-8.4	0	9		79	0,8282		0,0,4141	no	missense	ZNF618	NM_133374.2	58	0,1,6121	AA,AG,GG		0.0,0.0252,0.0082	benign	769/862	116812166	1,12243	1981	4141	6122	SO:0001583	missense	114991			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.2584G>A	9.37:g.116812166G>A	ENSP00000363241:p.Ala862Thr		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	G	4.045	0.006041	0.07866	2.52E-4	0.0	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.22743	1.94;1.94	5.63	-8.45	0.00946	Ribonuclease H-like (1);	0.899482	0.09826	N	0.750823	T	0.06462	0.0166	.	.	.	0.09310	N	0.99999	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36335	-0.9752	9	0.11485	T	0.65	0.0314	4.7216	0.12920	0.4829:0.1097:0.3256:0.0818	.	829;862;769	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	T	862;769	ENSP00000363241:A862T;ENSP00000288466:A769T	ENSP00000288466:A769T	A	+	1	0	ZNF618	115851987	0.000000	0.05858	0.001000	0.08648	0.390000	0.30446	-1.955000	0.01523	-1.088000	0.03077	-0.997000	0.02515	GCA		0.597	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116812166	G	A	116812166	3	1	43	1	0	0	0	0	1	0	0	0	18039	1087	38	1	2359	1	ZNF618	9	116812166	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	458535	116812166	24401265	484	3661											
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	117797539	117797539	+	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	gtaaccggtgactgatgcccGggggggtcgccaggtaagga	8	6	18	9	3	0	2	0	2	0	0	1	3	0	3	3	6	2	2	3	6	2	2	rs148674204	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:117797539G>A	ENST00000350763.4	-	22	6142	c.5731C>T	c.(5731-5733)Cgg>Tgg	p.R1911W	TNC_ENST00000535648.1_Missense_Mutation_p.R1456W|TNC_ENST00000537320.1_Missense_Mutation_p.R1274W|TNC_ENST00000341037.4_Missense_Mutation_p.R1729W|TNC_ENST00000542877.1_Missense_Mutation_p.R1548W|TNC_ENST00000345230.3_Missense_Mutation_p.R1274W|TNC_ENST00000340094.3_Missense_Mutation_p.R1547W|TNC_ENST00000346706.3_Missense_Mutation_p.R1365W|TNC_ENST00000423613.2_Missense_Mutation_p.R1638W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {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						ACTGATGCCCGGGGGGGTCGC	0.478																																						.											0								G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	81	83	82		5731	4	0.7	9	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TNC	NM_002160.3	101	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	probably-damaging	1911/2202	117797539	6,13000	2203	4300	6503	SO:0001583	missense	3371				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.5731C>T	9.37:g.117797539G>A	ENSP00000265131:p.Arg1911Trp		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.283309|3.283309	0.59867|0.59867	4.54E-4|4.54E-4	4.65E-4|4.65E-4	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T|T;T;T;T;T;T;T;T;T	0.74315|0.57907	-0.83|0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.97|5.97	4.02|4.02	0.46733|0.46733	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.239042	.|0.41823	.|D	.|0.000804	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.84948|0.84948	2.725|2.725	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.995;0.997	T|T	0.69643|0.69643	-0.5090|-0.5090	7|10	0.72032|0.72032	D|D	0.01|0.01	.|.	14.1271|14.1271	0.65228|0.65228	0.0:0.0:0.5477:0.4523|0.0:0.0:0.5477:0.4523	.|.	.|1638;1911	.|E9PC84;P24821	.|.;TENA_HUMAN	L|W	473|1547;1456;1365;1274;1911;983;1729;1638;1274;1548	ENSP00000445380:P473L|ENSP00000344400:R1547W;ENSP00000438152:R1456W;ENSP00000344555:R1365W;ENSP00000345861:R1274W;ENSP00000265131:R1911W;ENSP00000339553:R1729W;ENSP00000411406:R1638W;ENSP00000443478:R1274W;ENSP00000442242:R1548W	ENSP00000445380:P473L|ENSP00000344400:R1547W	P|R	-|-	2|1	0|2	TNC|TNC	116837360|116837360	0.749000|0.749000	0.28305|0.28305	0.706000|0.706000	0.30403|0.30403	0.778000|0.778000	0.44026|0.44026	2.922000|2.922000	0.48860|0.48860	0.693000|0.693000	0.31634|0.31634	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117797539	G	A	117797539	3	1	43	1	0	0	0	0	1	0	0	0	16267	1115	39	1	902	1	TNC	9	117797539	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	985373	117797539	23415892	485	3662											
DBC1	1620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	122001025	122001025	+	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	tacagcccagaggcccagtgCgtgtctctgtgacctgcagt	7	9	12	13	1	1	2	0	1	1	1	2	2	1	2	3	1	4	1	3	1	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:122001025C>T	ENST00000265922.3	-	5	1054	c.593G>A	c.(592-594)cGc>cAc	p.R198H	BRINP1_ENST00000373964.2_Missense_Mutation_p.R198H	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	198	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											AGGCCCAGTGCGTGTCTCTGT	0.507																																						.											0													106	78	88					9																	122001025		2203	4300	6503	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.593G>A	9.37:g.122001025C>T	ENSP00000265922:p.Arg198His		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458407	0.96240	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.55930	2.14;0.49	5.91	5.91	0.95273	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	T	0.72629	-0.4235	10	0.87932	D	0	-21.6133	19.2777	0.94039	0.0:1.0:0.0:0.0	.	198;198	O60477-2;O60477	.;DBC1_HUMAN	H	198	ENSP00000265922:R198H;ENSP00000363075:R198H	ENSP00000265922:R198H	R	-	2	0	DBC1	121040846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.794000	0.96219	0.655000	0.94253	CGC		0.507	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		T	122001025	C	T	122001025	3	4	43	1	0	0	0	0	1	0	0	0	4247	768	27	1	1708	1	DBC1	9	122001025	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4203486	122001025	19212406	486	3663											
NEK6	10783	broad.mit.edu;ucsc.edu	37	chr9	127064218	127064218	+	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	gctgttttctgttgcagttcGtgccctcgtgaggctggcat	3	15	13	10	2	1	1	0	1	1	0	3	1	1	1	1	2	2	7	1	2	0	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:127064218G>A	ENST00000320246.5	+	0	120				NEK6_ENST00000539416.1_Missense_Mutation_p.R17H|NEK6_ENST00000373600.3_Missense_Mutation_p.R26H|NEK6_ENST00000373603.1_5'UTR|NEK6_ENST00000546191.1_5'UTR|NEK6_ENST00000540326.1_Missense_Mutation_p.R10H|NEK6_ENST00000394199.2_Missense_Mutation_p.R26H|NEK6_ENST00000545174.1_5'UTR	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6						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)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GTTGCAGTTCGTGCCCTCGTG	0.582																																					NSCLC(122;934 1785 18647 44295 45571)	.											0													37	32	34					9																	127064218		2195	4290	6485	SO:0001623	5_prime_UTR_variant	10783			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.-26G>A	9.37:g.127064218G>A			B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184141	0.38609	.	.	ENSG00000119408	ENST00000540326;ENST00000373600;ENST00000423785;ENST00000394199;ENST00000539416	T;T;T;T;T	0.71934	-0.61;-0.57;-0.42;-0.57;-0.57	4.85	2.97	0.34412	.	1.576480	0.04628	U	0.403160	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P;B	0.36733	0.567;0.265	B;B	0.32149	0.141;0.053	T	0.38394	-0.9663	10	0.51188	T	0.08	.	7.0487	0.25061	0.0961:0.1754:0.7285:0.0	.	26;10	Q9HC98-2;Q9HC98-3	.;.	H	10;26;26;26;17	ENSP00000441469:R10H;ENSP00000362702:R26H;ENSP00000399847:R26H;ENSP00000377749:R26H;ENSP00000439651:R17H	ENSP00000362702:R26H	R	+	2	0	NEK6	126104039	0.346000	0.24844	0.908000	0.35775	0.360000	0.29518	0.900000	0.28431	0.703000	0.31848	0.563000	0.77884	CGT		0.582	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		A	127064218	G	A	127064218	1	1	43	0	1	0	0	0	0	0	0	0	10328	1145	40	1		1	NEK6	9	127064218	5'UTR	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5063193	127064218	14149213	487	3664											
RABEPK	10244	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	127975736	127975736	+	Missense_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	tccctcctgcacacctgaccGtatctgggtatttggaggtg	6	12	11	12	1	1	1	0	1	1	0	3	2	3	2	4	3	1	3	4	3	2	3	rs147509125		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:127975736G>A	ENST00000373538.3	+	4	609	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000394125.4_Missense_Mutation_p.R100H|RABEPK_ENST00000373544.1_Missense_Mutation_p.R100H|RABEPK_ENST00000394124.4_Missense_Mutation_p.R100H	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	100					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						ACACCTGACCGTATCTGGGTA	0.448																																						.											0								G	HIS/ARG,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	131	119	123		299,,299	1.5	0.2	9	dbSNP_134	123	0,8600		0,0,4300	no	missense,intron,missense	RABEPK	NM_001174152.1,NM_001174153.1,NM_005833.3	29,,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,,benign	100/373,,100/373	127975736	2,13004	2203	4300	6503	SO:0001583	missense	10244			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.299G>A	9.37:g.127975736G>A	ENSP00000362639:p.Arg100His		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	4.987	0.183381	0.09495	4.54E-4	0.0	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.68181	0.84;-0.31;-0.31;0.84;0.84	5.47	1.49	0.22878	Galactose oxidase, beta-propeller (1);	0.429767	0.29403	N	0.012242	T	0.54532	0.1864	L	0.52206	1.635	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.43798	-0.9369	10	0.40728	T	0.16	-0.2788	6.7011	0.23225	0.2233:0.254:0.5227:0.0	.	100;100	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	H	100;100;100;100;183	ENSP00000377683:R100H;ENSP00000362645:R100H;ENSP00000377682:R100H;ENSP00000362639:R100H;ENSP00000402234:R183H	ENSP00000362639:R100H	R	+	2	0	RABEPK	127015557	1.000000	0.71417	0.195000	0.23364	0.047000	0.14425	1.514000	0.35834	-0.185000	0.10550	-2.511000	0.00188	CGT		0.448	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		A	127975736	G	A	127975736	3	1	43	1	0	0	0	0	1	0	0	0	12963	1145	40	1	309	1	RABEPK	9	127975736	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	911518	127975736	13237695	488	3665											
ZBTB34	403341	broad.mit.edu;mdanderson.org	37	chr9	129641862	129641862	+	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	ctgccagctccccatatttcCgggaccattcagcgttaagt	8	11	8	14	2	1	0	1	0	0	0	3	1	3	1	5	1	3	2	5	1	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129641862C>T	ENST00000373452.2	+	1	236	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	ZBTB34_ENST00000319119.4_Missense_Mutation_p.R62W			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	58	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCATATTTCCGGGACCATTC	0.468																																						.											0													118	127	124					9																	129641862		2033	4177	6210	SO:0001583	missense	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.172C>T	9.37:g.129641862C>T	ENSP00000362551:p.Arg58Trp		Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757294	0.89843	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.70164	-0.46;-0.46	5.53	5.53	0.82687	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84932	0.0860	10	0.72032	D	0.01	.	19.8241	0.96610	0.0:1.0:0.0:0.0	.	58	Q8NCN2	ZBT34_HUMAN	W	62;58	ENSP00000317534:R62W;ENSP00000362551:R58W	ENSP00000317534:R62W	R	+	1	2	ZBTB34	128681683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.758000	0.94735	0.655000	0.94253	CGG		0.468	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		T	129641862	C	T	129641862	3	4	43	1	0	0	0	0	1	0	0	0	17534	643	23	1	174	1	ZBTB34	9	129641862	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1666126	129641862	11571569	489	3666											
ZBTB34	403341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	129642636	129642636	+	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	ggtccatgctgagctgtttcCgaggagggcgtgcccgccag	5	8	16	12	3	0	1	0	1	0	0	2	3	2	2	4	3	3	3	4	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129642636C>T	ENST00000373452.2	+	1	1010	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZBTB34_ENST00000319119.4_Nonsense_Mutation_p.R320*			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	316					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(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GAGCTGTTTCCGAGGAGGGCG	0.547																																						.											0													35	37	37					9																	129642636		1968	4143	6111	SO:0001587	stop_gained	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.946C>T	9.37:g.129642636C>T	ENSP00000362551:p.Arg316*		Q38IA7|Q5VYE9	Nonsense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	36	5.867591	0.97043	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	.	.	.	5.78	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	14.1263	0.65222	0.2213:0.7787:0.0:0.0	.	.	.	.	X	320;316	.	ENSP00000317534:R320X	R	+	1	2	ZBTB34	128682457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.814000	0.48010	2.731000	0.93534	0.655000	0.94253	CGA		0.547	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		T	129642636	C	T	129642636	4	4	43	1	0	0	0	0	0	1	0	0	17534	644	23	1	948	1	ZBTB34	9	129642636	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	774	129642636	11570795	490	3667											
ANGPTL2	23452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	129870870	129870870	+	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	cacttgtcctgggactcgccCgcccgcttgtacctgtttag	4	12	10	15	3	0	0	0	0	0	0	2	1	1	1	4	1	1	3	4	1	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129870870C>T	ENST00000373425.3	-	2	758	c.141G>A	c.(139-141)gcG>gcA	p.A47A	RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	47					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGGACTCGCCCGCCCGCTTGT	0.602																																						.											0													76	61	66					9																	129870870		2203	4300	6503	SO:0001819	synonymous_variant	23452			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.141G>A	9.37:g.129870870C>T			Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	CCDS6868.1																																																																																				0.602	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		T	129870870	C	T	129870870	2	4	43	1	0	0	0	0	0	0	0	1	614	639	23	1		1	ANGPTL2	9	129870870	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	228234	129870870	11342561	491	3668											
SLC2A8	29988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	130167788	130167788	+	Missense_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	gcgtggcgacaggcatctgcGtcctcaccaactggctcatg	7	8	12	14	3	3	0	2	0	1	0	4	1	4	0	2	3	2	2	2	3	1	0	rs201045999	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130167788G>A	ENST00000373371.3	+	9	1329	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Missense_Mutation_p.V151I	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	414					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						AGGCATCTGCGTCCTCACCAA	0.632													G|||	18	0.00359425	0	0	5008	,	,		22112	0		0	False		,,,				2504	0.0184					.											0													123	91	101					9																	130167788		2202	4300	6502	SO:0001583	missense	29988			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.1240G>A	9.37:g.130167788G>A	ENSP00000362469:p.Val414Ile		Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399352	0.83120	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000430147	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056140	0.64402	D	0.000001	D	0.84406	0.5465	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84562	0.0650	10	0.54805	T	0.06	.	18.1845	0.89789	0.0:0.0:1.0:0.0	.	414	Q9NY64	GTR8_HUMAN	I	414;251;151;253	ENSP00000362469:V414I;ENSP00000392434:V251I;ENSP00000362450:V151I;ENSP00000391213:V253I	ENSP00000362450:V151I	V	+	1	0	SLC2A8	129207609	1.000000	0.71417	0.974000	0.42286	0.484000	0.33280	9.349000	0.97066	2.674000	0.91012	0.655000	0.94253	GTC		0.632	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		A	130167788	G	A	130167788	3	1	43	1	0	0	0	0	1	0	0	0	14551	1145	40	1	1274	1	SLC2A8	9	130167788	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	296918	130167788	11045643	492	3669											
FPGS	2356	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	130569287	130569287	+	Missense_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	gcaggttcgggagcggatccGcatcaatgggcagcccatca	9	6	14	12	3	2	0	2	0	0	0	4	2	3	2	2	4	2	4	2	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130569287G>A	ENST00000373247.2	+	5	472	c.422G>A	c.(421-423)cGc>cAc	p.R141H	FPGS_ENST00000373245.1_Missense_Mutation_p.R141H|FPGS_ENST00000373225.3_Missense_Mutation_p.R91H|FPGS_ENST00000393706.2_Missense_Mutation_p.R141H|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	141					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)	GAGCGGATCCGCATCAATGGG	0.652																																						.											0													90	87	88					9																	130569287		2203	4300	6503	SO:0001583	missense	2356				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.422G>A	9.37:g.130569287G>A	ENSP00000362344:p.Arg141His		B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	g	35	5.448987	0.96205	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.38077	2.5;1.16;2.47;1.16;2.1	5.45	5.45	0.79879	Mur ligase, central (2);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79313	-0.1855	10	0.87932	D	0	-0.0707	17.882	0.88843	0.0:0.0:1.0:0.0	.	141;141	Q05932-4;Q05932	.;FOLC_HUMAN	H	141;141;141;141;91;91;91	ENSP00000362344:R141H;ENSP00000362342:R141H;ENSP00000377309:R141H;ENSP00000362325:R141H;ENSP00000362322:R91H	ENSP00000362322:R91H	R	+	2	0	FPGS	129609108	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.637000	0.98443	2.582000	0.87167	0.450000	0.29827	CGC		0.652	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			A	130569287	G	A	130569287	3	1	43	1	0	0	0	0	1	0	0	0	6036	1087	38	1	440	1	FPGS	9	130569287	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	401499	130569287	10644144	493	3670											
PIP5KL1	138429	hgsc.bcm.edu;ucsc.edu	37	chr9	130684387	130684387	+	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	tccgggctctgtgccccttgCacagacctgggggccgacag	5	7	14	15	2	1	1	0	0	1	1	2	2	2	1	5	3	2	2	5	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130684387C>T	ENST00000388747.4	-	10	968	c.924G>A	c.(922-924)gtG>gtA	p.V308V	PIP5KL1_ENST00000300432.3_Silent_p.V105V	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	308	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						GTGCCCCTTGCACAGACCTGG	0.701																																						.											0													10	12	12					9																	130684387		2129	4201	6330	SO:0001819	synonymous_variant	138429			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.924G>A	9.37:g.130684387C>T			Q8IVS3	Silent	SNP	ENST00000388747.4	37	CCDS48030.1																																																																																				0.701	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		T	130684387	C	T	130684387	2	4	43	1	0	0	0	0	0	0	0	1	11942	697	25	4		4	PIP5KL1	9	130684387	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	115100	130684387	10529044	494	3671											
GOLGA2	2801	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	131023004	131023004	+	Missense_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	cagaccctccagctccttccGcaggtgctcagcctccgctt	5	9	8	19	2	1	1	1	0	0	1	5	1	5	1	6	1	3	4	6	1	0	2	rs376675493		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131023004G>A	ENST00000421699.2	-	17	1429	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R461W|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	473					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						AGCTCCTTCCGCAGGTGCTCA	0.637																																						.											0													21	24	23					9																	131023004		2203	4300	6503	SO:0001583	missense	2801			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.1417C>T	9.37:g.131023004G>A	ENSP00000416097:p.Arg473Trp		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	36	5.620943	0.96660	.	.	ENSG00000167110	ENST00000421699	T	0.24723	1.84	5.3	5.3	0.74995	.	0.303264	0.36815	N	0.002390	T	0.37073	0.0990	M	0.63843	1.955	0.33982	D	0.64812	D	0.56521	0.976	P	0.46975	0.533	T	0.55692	-0.8101	10	0.87932	D	0	.	18.9624	0.92681	0.0:0.0:1.0:0.0	.	473	Q08379	GOGA2_HUMAN	W	473	ENSP00000416097:R473W	ENSP00000416097:R473W	R	-	1	2	GOLGA2	130062825	0.990000	0.36364	0.028000	0.17463	0.807000	0.45602	6.781000	0.75068	2.482000	0.83794	0.305000	0.20034	CGG		0.637	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		A	131023004	G	A	131023004	3	1	43	1	0	0	0	0	1	0	0	0	6552	1086	38	1	1631	1	GOLGA2	9	131023004	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	338617	131023004	10190427	495	3672											
SPTAN1	6709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	131329101	131329101	+	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	aggtcctagaccgataccacCgcttcaaggaactctcaacc	12	7	7	15	2	2	1	2	0	1	1	4	3	3	2	5	2	3	1	5	2	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131329101C>T	ENST00000372731.4	+	2	192	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R28C|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R28C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	28					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						CCGATACCACCGCTTCAAGGA	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	.											0													106	105	105					9																	131329101		2203	4300	6503	SO:0001583	missense	6709			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.82C>T	9.37:g.131329101C>T	ENSP00000361816:p.Arg28Cys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625175	0.87560	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.36520	1.25;1.25;1.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.999	P;D;P;D;D	0.77004	0.898;0.989;0.88;0.978;0.922	T	0.60347	-0.7281	10	0.72032	D	0.01	.	14.5719	0.68218	0.1549:0.8451:0.0:0.0	.	28;28;28;28;28	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	28	ENSP00000350882:R28C;ENSP00000361816:R28C;ENSP00000361824:R28C	ENSP00000350882:R28C	R	+	1	0	SPTAN1	130368922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.801000	0.69115	2.829000	0.97493	0.655000	0.94253	CGC		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131329101	C	T	131329101	3	4	43	1	0	0	0	0	1	0	0	0	15116	652	23	1	84	1	SPTAN1	9	131329101	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	306097	131329101	9884330	496	3673											
DOLPP1	57171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	131849014	131849014	+	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	ctccgagttcttcctaatccGagacacaagcctcattccca	10	10	5	16	2	2	1	1	0	1	1	6	3	6	1	5	0	1	1	5	0	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131849014G>A	ENST00000372546.4	+	7	649	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	DOLPP1_ENST00000540102.1_Missense_Mutation_p.R65Q|DOLPP1_ENST00000406974.3_Missense_Mutation_p.R163Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	206					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						TTCCTAATCCGAGACACAAGC	0.577																																						.											0													139	116	124					9																	131849014		2203	4300	6503	SO:0001583	missense	57171			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.617G>A	9.37:g.131849014G>A	ENSP00000361625:p.Arg206Gln		A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	G	36	5.833991	0.97003	.	.	ENSG00000167130	ENST00000372546;ENST00000406974;ENST00000540102	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.73372	2.23	0.80722	D	1	D;D	0.63880	0.993;0.973	P;P	0.57720	0.826;0.467	T	0.76825	-0.2816	9	0.52906	T	0.07	-17.6525	18.4844	0.90823	0.0:0.0:1.0:0.0	.	163;206	B0QZG4;Q86YN1	.;DOPP1_HUMAN	Q	206;163;65	.	ENSP00000361625:R206Q	R	+	2	0	DOLPP1	130888835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.375000	0.97178	2.607000	0.88179	0.555000	0.69702	CGA		0.577	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		A	131849014	G	A	131849014	3	1	43	1	0	0	0	0	1	0	0	0	4704	1058	37	1	643	1	DOLPP1	9	131849014	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	519913	131849014	9364417	497	3674											
BAT2L1	84726	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr9	134334701	134334701	+	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	gcgccagaccctcagccaccGcccaggaagcttcatggctg	8	5	11	17	2	2	1	2	0	0	1	2	2	2	2	5	2	2	2	5	2	1	1	rs565217318	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:134334701G>A	ENST00000357304.4	+	10	1417	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Silent_p.P454P|PRRC2B_ENST00000458550.1_Silent_p.P454P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	454							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						CTCAGCCACCGCCCAGGAAGC	0.617													G|||	2	0.000399361	0	0	5008	,	,		15507	0		0	False		,,,				2504	0.002					.											0													39	47	44					9																	134334701		2077	4213	6290	SO:0001819	synonymous_variant	84726			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.1362G>A	9.37:g.134334701G>A			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1																																																																																				0.617	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134334701	G	A	134334701	2	1	43	1	0	0	0	0	0	0	0	1	1320	1074	38	1		1	BAT2L1	9	134334701	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2485687	134334701	6878730	498	3675											
NTNG2	84628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	135073709	135073709	+	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	gacatgtcatcctccagcgcGcaccgcgtgctctgcaccga	7	7	10	17	5	2	0	1	0	1	0	4	2	4	0	4	0	3	3	4	0	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135073709G>A	ENST00000393229.3	+	3	1346	c.570G>A	c.(568-570)gcG>gcA	p.A190A	NTNG2_ENST00000393228.4_Silent_p.A190A|NTNG2_ENST00000360670.3_Silent_p.A190A|NTNG2_ENST00000372179.3_Silent_p.A190A	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	190	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)		CCTCCAGCGCGCACCGCGTGC	0.677																																						.											0													33	27	29					9																	135073709		2203	4296	6499	SO:0001819	synonymous_variant	84628			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.570G>A	9.37:g.135073709G>A			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	CCDS6946.1																																																																																				0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		A	135073709	G	A	135073709	2	1	43	1	0	0	0	0	0	0	0	1	10705	1074	38	1		1	NTNG2	9	135073709	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	739008	135073709	6139722	499	3676											
GTF3C4	9329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	135553528	135553528	+	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	agctggtctcccatgggttgCgatgctaatggcaggtgcct	6	11	14	10	1	1	0	0	0	1	0	2	1	1	0	2	4	4	4	2	4	1	2	rs372437145		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					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)		CCATGGGTTGCGATGCTAATG	0.532																																					Pancreas(142;417 1875 11086 31973 47667)	.											0								C		0,4406		0,0,2203	114	111	112		522	-2.7	1	9		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GTF3C4	NM_012204.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		174/823	135553528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9329			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.522C>T	9.37:g.135553528C>T			Q5VZJ7	Silent	SNP	ENST00000372146.4	37	CCDS6953.1																																																																																				0.532	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			T	135553528	C	T	135553528	2	4	43	1	0	0	0	0	0	0	0	1	6875	776	27	1		1	GTF3C4	9	135553528	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	479819	135553528	5659903	500	3677											
GTF3C5	9328	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr9	135919149	135919149	+	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	cagtacttggctgtgcatacGgaagcaggcggcaagcatac	11	7	13	10	2	0	0	0	0	0	0	0	1	0	1	0	4	6	6	0	4	5	4	rs575422131		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135919149G>A	ENST00000372097.5	+	3	731	c.408G>A	c.(406-408)acG>acA	p.T136T	GTF3C5_ENST00000372095.5_Silent_p.T11T|GTF3C5_ENST00000372108.5_Silent_p.T136T|GTF3C5_ENST00000372099.6_Silent_p.T127T|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000342018.8_Silent_p.T136T	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	136					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CTGTGCATACGGAAGCAGGCG	0.567													G|||	1	0.000199681	0	0	5008	,	,		19894	0		0	False		,,,				2504	0.001					.											0													102	83	89					9																	135919149		2203	4300	6503	SO:0001819	synonymous_variant	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.408G>A	9.37:g.135919149G>A			A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	ENST00000372097.5	37	CCDS6958.1																																																																																				0.567	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		A	135919149	G	A	135919149	2	1	43	1	0	0	0	0	0	0	0	1	6876	1103	39	1		1	GTF3C5	9	135919149	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	365621	135919149	5294282	501	3678											
COL5A1	1289	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	137712006	137712006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggtcctccgggtgaacaGggtgagaagggcgaccgtgg	8	6	18	9	4	0	2	0	2	0	1	3	4	2	2	3	5	1	0	3	5	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:137712006G>T	ENST00000371817.3	+	58	4905	c.4491G>T	c.(4489-4491)caG>caT	p.Q1497H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1497	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)		CGGGTGAACAGGGTGAGAAGG	0.622																																						.											0													104	97	99					9																	137712006		2203	4300	6503	SO:0001583	missense	1289			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.4491G>T	9.37:g.137712006G>T	ENSP00000360882:p.Gln1497His		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790277	0.50102	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.92805	-3.11	4.69	3.77	0.43336	.	0.000000	0.85682	U	0.000000	D	0.89255	0.6663	M	0.65975	2.015	0.49483	D	0.999797	B	0.15719	0.014	B	0.17722	0.019	D	0.85085	0.0948	10	0.62326	D	0.03	.	6.8449	0.23982	0.1697:0.1461:0.6843:0.0	.	1497	P20908	CO5A1_HUMAN	H	1497;34	ENSP00000360882:Q1497H	ENSP00000347458:Q34H	Q	+	3	2	COL5A1	136851827	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	1.914000	0.39966	0.923000	0.37045	0.643000	0.83706	CAG		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137712006	G	T	137712006	3	4	43	1	0	0	0	0	1	0	0	0	3696	991	35	5	4721	5	COL5A1	9	137712006	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1792857	137712006	3501425	502	3679											
C9orf86	55684	broad.mit.edu;mdanderson.org	37	chr9	139730292	139730292	+	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	gagacggaggaccagaactaCggcatgtatgtggccggacc	11	5	15	10	3	0	2	0	0	0	2	0	6	0	5	3	5	2	2	3	5	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139730292C>T	ENST00000311502.7	+	8	1040	c.804C>T	c.(802-804)taC>taT	p.Y268Y	RABL6_ENST00000432842.2_Silent_p.Y230Y|RABL6_ENST00000371663.4_Silent_p.Y269Y|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371675.3_Silent_p.Y153Y|RABL6_ENST00000357466.2_Silent_p.Y268Y			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	268	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ACCAGAACTACGGCATGTATG	0.687																																						.											0													21	29	26					9																	139730292		2054	4098	6152	SO:0001819	synonymous_variant	55684			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.804C>T	9.37:g.139730292C>T			A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	CCDS48058.1																																																																																				0.687	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		T	139730292	C	T	139730292	2	4	43	1	0	0	0	0	0	0	0	1	2502	547	19	1		1	C9orf86	9	139730292	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2018286	139730292	1483139	503	3680											
ABCA2	20	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	139908708	139908708	+	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	gtgtagccagctccctcgtcGccacgggcagagcccacaga	8	5	12	16	3	0	2	0	0	0	2	3	2	1	2	4	1	3	3	4	1	1	1	rs567851206		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139908708G>A	ENST00000371605.3	-	26	4296	c.4149C>T	c.(4147-4149)ggC>ggT	p.G1383G	ABCA2_ENST00000341511.6_Silent_p.G1384G|ABCA2_ENST00000265662.5_Silent_p.G1384G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1383					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)		CTCCCTCGTCGCCACGGGCAG	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		15627	0		0	False		,,,				2504	0					.											0													17	21	20					9																	139908708		2184	4283	6467	SO:0001819	synonymous_variant	20			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.4149C>T	9.37:g.139908708G>A			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37																																																																																					0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		A	139908708	G	A	139908708	2	1	43	1	0	0	0	0	0	0	0	1	32	1074	38	1		1	ABCA2	9	139908708	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	178416	139908708	1304723	504	3681											
ABCA2	20	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	139915957	139915957	+	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	gacagcatcccggtagccctGcagggctcccttctgactct	6	9	10	16	1	2	1	0	1	2	0	4	2	4	1	3	2	3	4	3	2	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139915957G>A	ENST00000371605.3	-	7	928	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Nonsense_Mutation_p.Q262*|ABCA2_ENST00000265662.5_Nonsense_Mutation_p.Q262*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	261					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)		CGGTAGCCCTGCAGGGCTCCC	0.687																																						.											0													14	19	17					9																	139915957		2158	4267	6425	SO:0001587	stop_gained	20			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.781C>T	9.37:g.139915957G>A	ENSP00000360666:p.Gln261*		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Nonsense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	g	24.6	4.544433	0.86022	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.	.	.	4.03	3.04	0.35103	.	5.649370	0.01815	U	0.033717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	6.235	0.20758	0.0:0.2773:0.4324:0.2903	.	.	.	.	X	262;261;292;262	.	ENSP00000265662:Q262X	Q	-	1	0	ABCA2	139035778	0.060000	0.20803	0.973000	0.42090	0.347000	0.29111	0.572000	0.23684	1.784000	0.52394	0.197000	0.17608	CAG		0.687	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		A	139915957	G	A	139915957	4	1	43	1	0	0	0	0	0	1	0	0	32	1328	46	4	6694	4	ABCA2	9	139915957	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7249	139915957	1297474	505	3682											
UAP1L1	91373	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	139973538	139973538	+	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	gtgtggacaacatcctggtgCggctggcggaccctgtcttc	5	10	14	12	2	1	0	0	0	1	0	3	2	2	2	2	5	2	1	2	5	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139973538C>T	ENST00000409858.3	+	4	813	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Missense_Mutation_p.R138W	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	261							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CATCCTGGTGCGGCTGGCGGA	0.657																																						.											0													81	79	80					9																	139973538		2203	4300	6503	SO:0001583	missense	91373			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.781C>T	9.37:g.139973538C>T	ENSP00000386935:p.Arg261Trp		A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746443	0.69418	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.17854	2.25;2.25	5.27	4.29	0.51040	.	0.107189	0.64402	D	0.000008	T	0.42291	0.1196	M	0.86178	2.8	0.36084	D	0.842964	D;D	0.76494	0.999;0.999	D;P	0.70016	0.967;0.893	T	0.56667	-0.7941	10	0.87932	D	0	.	10.321	0.43767	0.3919:0.6081:0.0:0.0	.	261;138	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	W	261;138	ENSP00000386935:R261W;ENSP00000353409:R138W	ENSP00000353409:R138W	R	+	1	2	UAP1L1	139093359	1.000000	0.71417	0.991000	0.47740	0.399000	0.30720	4.453000	0.60061	2.470000	0.83445	0.561000	0.74099	CGG		0.657	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		T	139973538	C	T	139973538	3	4	43	1	0	0	0	0	1	0	0	0	16823	759	27	1	795	1	UAP1L1	9	139973538	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	57581	139973538	1239893	506	3683											
ANAPC2	29882	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr9	140074818	140074818	+	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	ccggatgttggcattgatgcGgcgggagtccgccatgtcct	5	10	15	11	4	0	1	0	1	0	0	2	3	2	3	4	4	1	2	4	4	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140074818G>A	ENST00000323927.2	-	10	1709	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	569					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)		GCATTGATGCGGCGGGAGTCC	0.677																																						.											0													37	38	38					9																	140074818		2203	4298	6501	SO:0001583	missense	29882			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.1705C>T	9.37:g.140074818G>A	ENSP00000314004:p.Arg569Cys		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363861	0.61513	.	.	ENSG00000176248	ENST00000323927	T	0.74947	-0.89	4.27	4.27	0.50696	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88706	0.3219	10	0.87932	D	0	-18.2855	9.4373	0.38646	0.0:0.0:0.7879:0.2121	.	569;566	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	C	569	ENSP00000314004:R569C	ENSP00000314004:R569C	R	-	1	0	ANAPC2	139194639	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.106000	0.57804	2.202000	0.70862	0.462000	0.41574	CGC		0.677	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		A	140074818	G	A	140074818	3	1	43	1	0	0	0	0	1	0	0	0	603	1116	39	1	779	1	ANAPC2	9	140074818	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	101280	140074818	1138613	507	3684											
RNF208	727800	broad.mit.edu;bcgsc.ca	37	chr9	140115390	140115390	+	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	ggggccgccgtggcagtggcGgggtatggggtgccccttcc	2	7	20	12	3	0	0	0	0	0	0	1	0	1	0	5	8	1	2	5	8	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140115390G>A	ENST00000392827.1	-	2	443	c.275C>T	c.(274-276)cCg>cTg	p.P92L	RNF208_ENST00000391553.1_Missense_Mutation_p.P92L			Q9H0X6	RN208_HUMAN	ring finger protein 208	92					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCAGTGGCGGGGTATGGGG	0.637																																						.											0													7	10	9					9																	140115390		1905	4068	5973	SO:0001583	missense	727800			AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"RING-type (C3HC4) zinc fingers"	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.275C>T	9.37:g.140115390G>A	ENSP00000376572:p.Pro92Leu		A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	G	7.445	0.641575	0.14451	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.37752	1.18;1.18	3.44	3.44	0.39384	.	1.210940	0.06361	N	0.711722	T	0.38558	0.1045	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.53146	0.719	T	0.17684	-1.0361	10	0.30854	T	0.27	-10.054	13.6115	0.62080	0.0:0.0:1.0:0.0	.	92	Q9H0X6	RN208_HUMAN	L	92	ENSP00000376572:P92L;ENSP00000375397:P92L	ENSP00000375397:P92L	P	-	2	0	RNF208	139235211	1.000000	0.71417	0.893000	0.35052	0.127000	0.20565	3.868000	0.56055	1.756000	0.51951	0.491000	0.48974	CCG		0.637	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		A	140115390	G	A	140115390	3	1	43	1	0	0	0	0	1	0	0	0	13475	1116	39	1	514	1	RNF208	9	140115390	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	40572	140115390	1098041	508	3685											
PNPLA7	375775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	140355132	140355132	+	Missense_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	tgctctggaagtctgcgtatGcatccctggggacgtccagc	6	10	13	12	2	2	0	0	0	2	0	4	2	4	2	2	3	4	3	2	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140355132G>A	ENST00000277531.4	-	33	4010	c.3824C>T	c.(3823-3825)gCa>gTa	p.A1275V	NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A881V|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A1300V|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000392812.4_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1275					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)		GTCTGCGTATGCATCCCTGGG	0.632																																						.											0													108	87	94					9																	140355132		2202	4300	6502	SO:0001583	missense	375775			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.3824C>T	9.37:g.140355132G>A	ENSP00000277531:p.Ala1275Val		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782611	0.31502	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.71222	-0.55;3.36;0.25;0.25;0.23	4.22	3.22	0.36961	.	0.433103	0.23604	N	0.046415	T	0.53174	0.1780	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.24368	0.049;0.102;0.027;0.003	B;B;B;B	0.28139	0.016;0.086;0.011;0.007	T	0.39921	-0.9590	10	0.31617	T	0.26	-1.2611	7.6817	0.28518	0.0:0.0:0.6711:0.3289	.	683;1300;1275;522	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	881;683;1275;1300;1212;1266	ENSP00000360512:A881V;ENSP00000360501:A683V;ENSP00000277531:A1275V;ENSP00000384610:A1300V;ENSP00000400582:A1266V	ENSP00000277531:A1275V	A	-	2	0	PNPLA7	139474953	0.934000	0.31675	0.002000	0.10522	0.123000	0.20343	0.082000	0.14847	1.888000	0.54679	0.563000	0.77884	GCA		0.632	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		A	140355132	G	A	140355132	3	1	43	1	0	0	0	0	1	0	0	0	12170	1319	46	4	137	4	PNPLA7	9	140355132	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	239742	140355132	858299	509	3686											
CACNA1B	774	ucsc.edu;mdanderson.org	37	chr9	140865971	140865971	+	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	ttctactgggtggtgctgtgCgtggtggccctgaacacact	5	12	14	10	1	1	1	0	1	1	0	1	1	1	1	1	4	4	1	1	4	2	2	rs78326958	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140865971C>T	ENST00000371372.1	+	11	1615	c.1470C>T	c.(1468-1470)tgC>tgT	p.C490C	CACNA1B_ENST00000371363.1_Silent_p.C490C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.C491C|CACNA1B_ENST00000277551.2_Silent_p.C490C|CACNA1B_ENST00000371357.1_Silent_p.C491C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	490					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGTGCTGTGCGTGGTGGCCC	0.577													C|||	56	0.0111821	0.0129	0.0101	5008	,	,		18426	0.006		0.0119	False		,,,				2504	0.0143					.											0								C		53,4309		0,53,2128	102	117	111		1470	-9.6	0.8	9	dbSNP_131	111	86,8452		0,86,4183	no	coding-synonymous	CACNA1B	NM_000718.3		0,139,6311	TT,TC,CC		1.0073,1.215,1.0775		490/2340	140865971	139,12761	2181	4269	6450	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1470C>T	9.37:g.140865971C>T			B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140865971	C	T	140865971	2	4	43	1	0	0	0	0	0	0	0	1	2539	776	27	1		1	CACNA1B	9	140865971	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	510839	140865971	347460	510	3687											
CACNA1B	774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	140941360	140941360	+	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	gtgccttccctcacaggctcCgccgcttctgccactacatc	5	10	7	19	2	2	0	1	0	1	0	5	0	4	0	5	1	3	2	5	1	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140941360C>T	ENST00000371372.1	+	22	3563	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1140C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R332C|CACNA1B_ENST00000545473.1_Missense_Mutation_p.R166C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1141C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1140C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1141C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1140					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACAGGCTCCGCCGCTTCTG	0.652																																						.											0													51	54	53					9																	140941360		2112	4216	6328	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3418C>T	9.37:g.140941360C>T	ENSP00000360423:p.Arg1140Cys		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553682	0.65425	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000545473	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.81920	-0.0712	10	0.87932	D	0	.	17.44	0.87562	0.0:1.0:0.0:0.0	.	1140;1141;1140	B1AQK4;B1AQK7;B1AQK6	.;.;.	C	1140;1140;332;1140;1141;1141;166	ENSP00000360423:R1140C;ENSP00000277551:R1140C;ENSP00000277549:R332C;ENSP00000360414:R1140C;ENSP00000360408:R1141C;ENSP00000360406:R1141C;ENSP00000441232:R166C	ENSP00000277549:R332C	R	+	1	0	CACNA1B	140061181	0.986000	0.35501	1.000000	0.80357	0.624000	0.37722	2.783000	0.47766	2.416000	0.81992	0.561000	0.74099	CGC		0.652	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140941360	C	T	140941360	3	4	43	1	0	0	0	0	1	0	0	0	2539	652	23	1	3504	1	CACNA1B	9	140941360	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	75389	140941360	272071	511	3688											
WDR37	22884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	1175232	1175232	+	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	gttcacctgtgggtttgaccGgcaagccattggttggaaca	8	11	13	9	1	1	1	1	1	0	0	1	2	1	2	3	4	2	4	3	4	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:1175232G>A	ENST00000358220.1	+	14	1577	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	WDR37_ENST00000263150.4_Missense_Mutation_p.R478Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GGGTTTGACCGGCAAGCCATT	0.502																																						.											0													122	96	105					10																	1175232		2203	4300	6503	SO:0001583	missense	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1433G>A	10.37:g.1175232G>A	ENSP00000350954:p.Arg478Gln		A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831306	0.97003	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01323	5.01;5.01	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.76575	0.988;0.849	T	0.04481	-1.0948	10	0.33141	T	0.24	.	19.8706	0.96849	0.0:0.0:1.0:0.0	.	479;478	A8K976;Q9Y2I8	.;WDR37_HUMAN	Q	478	ENSP00000350954:R478Q;ENSP00000263150:R478Q	ENSP00000263150:R478Q	R	+	2	0	WDR37	1165232	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.731000	0.98807	2.692000	0.91855	0.561000	0.74099	CGG		0.502	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		A	1175232	G	A	1175232	3	1	43	1	0	0	0	0	1	0	0	0	17288	1116	39	1	1483	1	WDR37	10	1175232	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		1175232	134359515	512	3689											
GDI2	2665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	5827121	5827121	+	Missense_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	ttaccttgcaaatccttgggGcagttctccaaggccataga	10	11	9	11	0	1	1	0	0	1	1	3	1	2	1	4	3	2	3	4	3	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:5827121G>A	ENST00000380191.4	-	6	993	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	GDI2_ENST00000380181.3_Missense_Mutation_p.P190S|GDI2_ENST00000380132.4_Missense_Mutation_p.P239S	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	235					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AATCCTTGGGGCAGTTCTCCA	0.363																																						.											0													113	115	114					10																	5827121		2203	4300	6503	SO:0001583	missense	2665			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.703C>T	10.37:g.5827121G>A	ENSP00000369538:p.Pro235Ser		O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665129	0.88251	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181;ENST00000456041	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.77103	2.36	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.74023	0.95;0.982;0.95	D	0.96498	0.9369	10	0.54805	T	0.06	-15.047	18.6982	0.91610	0.0:0.0:1.0:0.0	.	239;190;235	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	S	235;68;63;239;190;225	ENSP00000369538:P235S;ENSP00000387565:P63S;ENSP00000369475:P239S;ENSP00000369528:P190S;ENSP00000401733:P225S	ENSP00000369475:P239S	P	-	1	0	GDI2	5867127	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.721000	0.98766	2.594000	0.87642	0.655000	0.94253	CCC		0.363	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		A	5827121	G	A	5827121	3	1	43	1	0	0	0	0	1	0	0	0	6321	1203	42	3	658	3	GDI2	10	5827121	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4651889	5827121	129707626	513	3690											
IL2RA	3559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	6063568	6063568	+	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	agagccctgtatccctggacGcactgataataaaccatctg	12	9	8	12	1	1	2	0	1	1	1	2	3	2	3	3	1	2	2	3	1	4	3	rs377104035		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:6063568G>A	ENST00000379959.3	-	4	629	c.456C>T	c.(454-456)tgC>tgT	p.C152C	IL2RA_ENST00000256876.6_Silent_p.C152C|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	152	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATCCCTGGACGCACTGATAAT	0.527																																						.											0								G		0,4406		0,0,2203	178	157	164		456	-0.8	0.1	10		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL2RA	NM_000417.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/273	6063568	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.456C>T	10.37:g.6063568G>A			Q5W007	Silent	SNP	ENST00000379959.3	37	CCDS7076.1																																																																																				0.527	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		A	6063568	G	A	6063568	2	1	43	1	0	0	0	0	0	0	0	1	7686	1079	38	1		1	IL2RA	10	6063568	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	236447	6063568	129471179	514	3691											
RSU1	6251	broad.mit.edu	37	chr10	16858984	16858984	+	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	gaactcacagaggccgttgaCatccagcatgttggagatgc	11	8	12	10	1	1	3	1	1	0	2	2	5	2	3	2	2	3	3	2	2	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:16858984C>T	ENST00000377921.3	-	1	398	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	RSU1_ENST00000464074.2_Intron|RSU1_ENST00000602389.1_Intron|RSU1_ENST00000345264.5_Missense_Mutation_p.V33I			Q15404	RSU1_HUMAN	Ras suppressor protein 1	33					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		AGGCCGTTGACATCCAGCATG	0.562																																						.											0													118	100	106					10																	16858984		2203	4300	6503	SO:0001583	missense	6251			AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.97G>A	10.37:g.16858984C>T	ENSP00000367154:p.Val33Ile		A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	C	3.759	-0.050046	0.07407	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	T;T	0.37058	1.22;1.22	5.21	3.38	0.38709	.	.	.	.	.	T	0.16642	0.0400	N	0.04508	-0.205	0.36840	D	0.887341	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.10154	-1.0642	9	0.22109	T	0.4	.	9.6892	0.40118	0.0:0.7749:0.0:0.2251	.	33;33	B0YJ73;Q15404	.;RSU1_HUMAN	I	33	ENSP00000339521:V33I;ENSP00000367154:V33I	ENSP00000339521:V33I	V	-	1	0	RSU1	16898990	0.968000	0.33430	0.947000	0.38551	0.667000	0.39255	0.782000	0.26788	0.800000	0.34041	0.555000	0.69702	GTC		0.562	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		T	16858984	C	T	16858984	3	4	43	1	0	0	0	0	1	0	0	0	13716	478	17	4	768	4	RSU1	10	16858984	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	10795416	16858984	118675763	515	3692											
NEBL	10529	broad.mit.edu	37	chr10	21097515	21097515	+	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	tcggagatttctgacctgtcGtctccgagacctgtaccgaa	8	11	10	12	4	2	3	0	1	2	2	5	6	2	3	4	1	1	1	4	1	2	2	rs140245727	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:21097515G>A	ENST00000377122.4	-	26	3081	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	895	Linker.				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						CTGACCTGTCGTCTCCGAGAC	0.458													G|||	5	0.000998403	0.0038	0	5008	,	,		16098	0		0	False		,,,				2504	0					.											0								G	,,	16,4390	23.3+/-48.9	0,16,2187	135	126	129		,2685,	-2.4	1	10	dbSNP_134	129	0,8600		0,0,4300	no	intron,coding-synonymous,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,,	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	,,	,895/1015,	21097515	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	10529			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.2685C>T	10.37:g.21097515G>A			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																				0.458	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		A	21097515	G	A	21097515	2	1	43	1	0	0	0	0	0	0	0	1	10303	1136	40	1		1	NEBL	10	21097515	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4238531	21097515	114437232	516	3693											
RASSF4	83937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	45485141	45485141	+	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	gaagatggccccagtgagttCgcactctacatcgttcacga	10	9	10	12	3	2	2	1	1	1	1	4	4	2	2	2	1	1	3	2	1	2	3	rs192302639		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:45485141C>T	ENST00000340258.5	+	8	770	c.657C>T	c.(655-657)ttC>ttT	p.F219F	RASSF4_ENST00000334940.6_Silent_p.F228F|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	834					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						CCAGTGAGTTCGCACTCTACA	0.557													C|||	1	0.000199681	0	0.0014	5008	,	,		19556	0		0	False		,,,				2504	0					.											0													142	111	122					10																	45485141		2203	4300	6503	SO:0001819	synonymous_variant	83937			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.657C>T	10.37:g.45485141C>T			Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	CCDS7208.1																																																																																				0.557	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		T	45485141	C	T	45485141	2	4	43	1	0	0	0	0	0	0	0	1	13088	883	31	1		1	RASSF4	10	45485141	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	24387626	45485141	90049606	517	3694											
C10orf71	118461	hgsc.bcm.edu;mdanderson.org	37	chr10	50534403	50534403	+	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	acacccctgcccgcgtacccCgccacccagaaggtcctcca	8	4	7	22	3	0	1	0	0	0	1	2	1	2	1	9	1	2	1	9	1	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:50534403C>T	ENST00000374144.3	+	3	4101	c.3813C>T	c.(3811-3813)ccC>ccT	p.P1271P	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1271										endometrium(1)	1						CCGCGTACCCCGCCACCCAGA	0.667																																						.											0													3	6	5					10																	50534403		625	1488	2113	SO:0001819	synonymous_variant	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3813C>T	10.37:g.50534403C>T			A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																				0.667	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		T	50534403	C	T	50534403	2	4	43	1	0	0	0	0	0	0	0	1	1614	639	23	1		1	C10orf71	10	50534403	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5049262	50534403	85000344	518	3695											
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	70695777	70695777	+	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	ttcagggaattacttttaaaCgtgtaggtgttccttctaca	10	16	8	7	1	2	0	1	0	1	0	3	1	3	1	1	2	3	2	1	2	6	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:70695777C>T	ENST00000373585.3	+	11	1644	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	513	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TACTTTTAAACGTGTAGGTGT	0.279																																						.											0													63	61	62					10																	70695777		2202	4298	6500	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1537C>T	10.37:g.70695777C>T	ENSP00000362687:p.Arg513Cys		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531750	0.64972	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.21543	2.0	5.46	5.46	0.80206	Helicase, C-terminal (1);	0.046278	0.85682	D	0.000000	T	0.29223	0.0727	M	0.77406	2.37	0.80722	D	1	B	0.33238	0.403	B	0.26202	0.067	T	0.13361	-1.0512	10	0.66056	D	0.02	-8.0118	18.6472	0.91415	0.0:1.0:0.0:0.0	.	513	Q9BQ39	DDX50_HUMAN	C	513	ENSP00000362687:R513C	ENSP00000362687:R513C	R	+	1	0	DDX50	70365783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.308000	0.51896	2.725000	0.93324	0.591000	0.81541	CGT		0.279	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		T	70695777	C	T	70695777	3	4	43	1	0	0	0	0	1	0	0	0	4368	536	19	1	1579	1	DDX50	10	70695777	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	20161374	70695777	64838970	519	3696											
KIAA1274	27143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	72324139	72324139	+	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	ggcgaaggcagcgaaagaggCgcaagaaatgcggaggctgc	13	2	18	8	4	0	2	0	0	0	2	0	5	0	3	0	5	3	3	0	5	4	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:72324139C>T	ENST00000263563.6	+	19	2550	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	761						cytosol (GO:0005829)											GCGAAAGAGGCGCAAGAAATG	0.617																																						.											0													77	75	76					10																	72324139		2203	4300	6503	SO:0001583	missense	27143			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.2282C>T	10.37:g.72324139C>T	ENSP00000263563:p.Ala761Val		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	10.63	1.404595	0.25378	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29917	1.55	4.9	2.42	0.29668	.	0.426837	0.24803	N	0.035474	T	0.24547	0.0595	L	0.47716	1.5	0.26423	N	0.976068	B	0.18610	0.029	B	0.12156	0.007	T	0.16158	-1.0412	10	0.40728	T	0.16	-12.6907	8.4465	0.32845	0.3575:0.52:0.0:0.1225	.	761	Q9ULE6	PALD_HUMAN	V	761;737	ENSP00000263563:A761V	ENSP00000263563:A761V	A	+	2	0	KIAA1274	71994145	1.000000	0.71417	0.147000	0.22382	0.613000	0.37349	1.533000	0.36040	0.168000	0.19655	-0.410000	0.06199	GCG		0.617	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		T	72324139	C	T	72324139	3	4	43	1	0	0	0	0	1	0	0	0	8220	768	27	1	2352	1	KIAA1274	10	72324139	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1628362	72324139	63210608	520	3697											
CHST3	9469	hgsc.bcm.edu;mdanderson.org	37	chr10	73768163	73768163	+	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	ggctacaaactggcgcgggaCgccgccgccctcaccaaccg	8	3	12	18	6	1	0	1	0	0	0	1	1	1	1	5	3	3	1	5	3	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:73768163C>T	ENST00000373115.4	+	3	1811	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	458					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						TGGCGCGGGACGCCGCCGCCC	0.692																																						.											0													13	12	12					10																	73768163		2164	4246	6410	SO:0001819	synonymous_variant	9469			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.1374C>T	10.37:g.73768163C>T			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	73768163	C	T	73768163	2	4	43	1	0	0	0	0	0	0	0	1	3405	535	19	1		1	CHST3	10	73768163	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1444024	73768163	61766584	521	3698											
TSPAN14	81619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	82269147	82269147	+	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	actgggtgagggaccggttcCgggagttcttcgagagcaac	8	8	16	9	3	1	2	0	1	1	1	3	5	2	4	2	4	2	3	2	4	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:82269147C>T	ENST00000429989.3	+	5	593	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.R107W|TSPAN14_ENST00000372158.1_Missense_Mutation_p.R124W|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372156.1_Missense_Mutation_p.R124W	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	124					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGACCGGTTCCGGGAGTTCTT	0.582																																						.											0													111	95	100					10																	82269147		2203	4300	6503	SO:0001583	missense	81619			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"Tetraspanins"	23303	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 14"	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.370C>T	10.37:g.82269147C>T	ENSP00000396270:p.Arg124Trp		A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256647	0.59321	.	.	ENSG00000108219	ENST00000429989;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000372156	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.21	4.23	0.50019	Tetraspanin, EC2 domain (1);	0.293169	0.37437	N	0.002084	T	0.82033	0.4949	L	0.47716	1.5	0.44048	D	0.996787	B;B	0.09022	0.001;0.002	B;B	0.15870	0.014;0.005	T	0.79845	-0.1631	10	0.72032	D	0.01	-34.6436	9.7385	0.40404	0.3472:0.6528:0.0:0.0	.	124;107	Q8NG11;Q8NG11-2	TSN14_HUMAN;.	W	124;94;107;124;124	ENSP00000396270:R124W;ENSP00000361230:R94W;ENSP00000361237:R107W;ENSP00000361231:R124W;ENSP00000361229:R124W	ENSP00000361229:R124W	R	+	1	2	TSPAN14	82259127	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.438000	0.59961	2.435000	0.82474	0.655000	0.94253	CGG		0.582	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		T	82269147	C	T	82269147	3	4	43	1	0	0	0	0	1	0	0	0	16635	643	23	1	384	1	TSPAN14	10	82269147	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8500984	82269147	53265600	522	3699											
PANK1	53354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	91371798	91371798	+	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	ccgatgtccatgccaaaccaTgggaatgctaaaggacagaa	15	6	10	10	1	0	1	0	0	0	1	1	4	1	3	4	2	3	1	4	2	5	1	rs376656328		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:91371798T>C	ENST00000307534.4	-	2	866	c.711A>G	c.(709-711)ccA>ccG	p.P237P	PANK1_ENST00000371774.2_Silent_p.P39P|PANK1_ENST00000322191.6_Silent_p.P12P|PANK1_ENST00000342512.3_Silent_p.P12P	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	237					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TGCCAAACCATGGGAATGCTA	0.433																																						.											0								T	,,	0,4406		0,0,2203	64	60	61		36,711,36	-12.2	0.1	10		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PANK1	NM_138316.3,NM_148977.2,NM_148978.2	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	12/315,237/599,12/374	91371798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.711A>G	10.37:g.91371798T>C			A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	CCDS31244.1																																																																																				0.433	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	91371798	T	C	91371798	2	2	43	1	0	0	0	0	0	0	0	1	11416	1451	51	4		4	PANK1	10	91371798	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	9102651	91371798	44162949	523	3700											
CPEB3	22849	mdanderson.org	37	chr10	93999850	93999850	+	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	ggcggcggcggctgctgaggAggctgatggaaactcaagcc	8	5	18	10	3	1	2	1	2	0	0	1	4	1	4	1	7	3	3	1	7	2	0	rs3824734	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:93999850A>G	ENST00000265997.4	-	2	430	c.258T>C	c.(256-258)ccT>ccC	p.P86P	CPEB3_ENST00000412050.4_Silent_p.P86P	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	86	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCTGCTGAGGAGGCTGATGGA	0.721													G|||	3298	0.658546	0.9501	0.745	5008	,	,		9820	0.499		0.6173	False		,,,				2504	0.41					.											0								G	,	3896,456		1755,386,35	13	15	14		258,258	-0.1	1	10	dbSNP_107	14	5207,3285		1622,1963,661	no	coding-synonymous,coding-synonymous	CPEB3	NM_001178137.1,NM_014912.4	,	3377,2349,696	GG,GA,AA		38.6835,10.4779,29.1264	,	86/685,86/699	93999850	9103,3741	2176	4246	6422	SO:0001819	synonymous_variant	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.258T>C	10.37:g.93999850A>G			Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	ENST00000265997.4	37	CCDS31246.1																																																																																				0.721	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		G	93999850	A	G	93999850	2	3	43	1	0	0	0	0	0	0	0	1	3802	291	11	2		2	CPEB3	10	93999850	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2628052	93999850	41534897	524	3701											
MYOF	26509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	95168570	95168570	+	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	aaaaaaagggttgtttcctcTcttgattcttgttcggtgtg	8	17	10	6	1	2	1	0	1	2	0	5	1	3	1	1	2	0	3	1	2	3	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:95168570T>G	ENST00000359263.4	-	7	702	c.703A>C	c.(703-705)Aga>Cga	p.R235R	MYOF_ENST00000371502.4_Silent_p.R235R|MYOF_ENST00000371489.1_Silent_p.R235R|MYOF_ENST00000371501.4_Silent_p.R235R|MYOF_ENST00000358334.5_Silent_p.R235R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	235	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGTTTCCTCTCTTGATTCTT	0.517																																						.											0													129	121	124					10																	95168570		1940	4141	6081	SO:0001819	synonymous_variant	26509			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.703A>C	10.37:g.95168570T>G			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.517	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		G	95168570	T	G	95168570	2	3	43	1	0	0	0	0	0	0	0	1	10089	1559	54	5		5	MYOF	10	95168570	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1168720	95168570	40366177	525	3702											
PLCE1	51196	broad.mit.edu	37	chr10	96022395	96022395	+	Missense_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	gattgagagcacatctctggGcatttttggggtgggcatac	8	12	14	7	0	1	1	0	1	1	1	2	3	1	1	0	4	2	3	0	4	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:96022395G>A	ENST00000371380.3	+	13	4194	c.3959G>A	c.(3958-3960)gGc>gAc	p.G1320D	PLCE1_ENST00000371375.1_Missense_Mutation_p.G1012D|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1012D|PLCE1_ENST00000260766.3_Missense_Mutation_p.G1320D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1320					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)				ACATCTCTGGGCATTTTTGGG	0.473																																						.											0													213	206	208					10																	96022395		1988	4176	6164	SO:0001583	missense	51196				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.3959G>A	10.37:g.96022395G>A	ENSP00000360431:p.Gly1320Asp		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926955	0.92319	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24908	1.83;1.83;1.85;1.85	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.44542	1.39	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	T	0.28138	-1.0053	10	0.56958	D	0.05	.	19.9596	0.97236	0.0:0.0:1.0:0.0	.	1304;1012;1320	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	1320;1320;1012;1012	ENSP00000260766:G1320D;ENSP00000360431:G1320D;ENSP00000360438:G1012D;ENSP00000360426:G1012D	ENSP00000260766:G1320D	G	+	2	0	PLCE1	96012385	1.000000	0.71417	0.976000	0.42696	0.799000	0.45148	9.827000	0.99397	2.726000	0.93360	0.655000	0.94253	GGC		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		A	96022395	G	A	96022395	3	1	43	1	0	0	0	0	1	0	0	0	12034	1203	42	3	4295	3	PLCE1	10	96022395	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	853825	96022395	39512352	526	3703											
NOC3L	64318	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	96121511	96121511	+	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	ttagtttcctctgttcttttCggtacttcttgagagtgctt	4	21	8	8	1	3	1	0	1	3	1	5	2	4	1	1	1	2	4	1	1	2	9	rs77771649	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:96121511C>T	ENST00000371361.3	-	2	228	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.R43Q	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	43					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)				CTGTTCTTTTCGGTACTTCTT	0.373													C|||	18	0.00359425	0.0121	0.0029	5008	,	,		19349	0		0	False		,,,				2504	0					.											0								C	GLN/ARG	37,4369	41.6+/-74.8	0,37,2166	280	247	258		128	4.2	1	10	dbSNP_132	258	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NOC3L	NM_022451.9	43	0,38,6465	TT,TC,CC		0.0116,0.8398,0.2922	probably-damaging	43/801	96121511	38,12968	2203	4300	6503	SO:0001583	missense	64318			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.128G>A	10.37:g.96121511C>T	ENSP00000360412:p.Arg43Gln		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	8	0.003663003663003663	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	0	0.0	C	31	5.065118	0.93898	0.008398	1.16E-4	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.12672	2.66;2.66	5.09	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.16085	0.0387	N	0.19112	0.55	0.48185	D	0.999601	D	0.89917	1.0	D	0.79108	0.992	T	0.02417	-1.1162	10	0.62326	D	0.03	-4.2335	13.3566	0.60631	0.0:0.9238:0.0:0.0762	.	43	Q8WTT2	NOC3L_HUMAN	Q	43	ENSP00000360412:R43Q;ENSP00000360401:R43Q	ENSP00000360401:R43Q	R	-	2	0	NOC3L	96111501	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.461000	0.80834	1.145000	0.42336	0.561000	0.74099	CGA		0.373	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		T	96121511	C	T	96121511	3	4	43	1	0	0	0	0	1	0	0	0	10514	884	31	1	2354	1	NOC3L	10	96121511	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	99116	96121511	39413236	527	3704											
HPS1	3257	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr10	100177455	100177455	+	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	cctgacagcctcggttgggcGgttcttgctgtagtagcgca	5	11	14	11	3	1	1	0	1	1	0	2	1	1	1	2	3	3	6	2	3	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:100177455G>A	ENST00000325103.6	-	20	2202	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	HPS1_ENST00000467246.1_5'UTR|PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000361490.4_Missense_Mutation_p.R657C	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	657					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)	p.R657C(1)		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)		TCGGTTGGGCGGTTCTTGCTG	0.662									Hermansky-Pudlak syndrome																													.											1	Substitution - Missense(1)	prostate(1)											69	63	65					10																	100177455		2203	4300	6503	SO:0001583	missense	3257	Familial Cancer Database	HPS, HPS1-8	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.1969C>T	10.37:g.100177455G>A	ENSP00000326649:p.Arg657Cys		A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646100	0.67358	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.33438	1.41;1.41	5.5	4.59	0.56863	.	0.252703	0.46442	D	0.000298	T	0.36880	0.0983	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.52856	0.599;0.711	T	0.03524	-1.1028	10	0.38643	T	0.18	.	13.7676	0.63004	0.0735:0.0:0.9265:0.0	.	624;658	Q92902-2;D3DR62	.;.	C	657;657;624	ENSP00000326649:R657C;ENSP00000355310:R657C	ENSP00000326649:R657C	R	-	1	0	HPS1	100167445	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.607000	0.82883	2.593000	0.87608	0.456000	0.33151	CGC		0.662	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		A	100177455	G	A	100177455	3	1	43	1	0	0	0	0	1	0	0	0	7339	1116	39	1	137	1	HPS1	10	100177455	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4055944	100177455	35357292	528	3705											
COX15	1355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	101483798	101483798	+	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	atcccaggtgggcagcaaggCggtactgactgacccgaggg	9	5	16	11	2	0	2	0	2	0	0	1	3	1	2	2	5	2	3	2	5	2	1	rs377568460		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:101483798C>T	ENST00000016171.5	-	5	715	c.665G>A	c.(664-666)cGc>cAc	p.R222H	COX15_ENST00000370483.5_Missense_Mutation_p.R222H|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	222					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GGCAGCAAGGCGGTACTGACT	0.522																																						.											0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	131	129	130		665,665	4.6	1	10		130	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	COX15	NM_004376.5,NM_078470.4	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	222/389,222/411	101483798	2,13004	2203	4300	6503	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.665G>A	10.37:g.101483798C>T	ENSP00000016171:p.Arg222His		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018218	0.93404	0.0	2.33E-4	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.84442	-1.85;-1.85	4.61	4.61	0.57282	.	0.052347	0.85682	D	0.000000	D	0.95472	0.8529	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.99;0.995	D	0.97566	1.0101	10	0.87932	D	0	-6.6653	17.8123	0.88619	0.0:1.0:0.0:0.0	.	222;222	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	H	222	ENSP00000359514:R222H;ENSP00000016171:R222H	ENSP00000016171:R222H	R	-	2	0	COX15	101473788	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.211000	0.77933	2.269000	0.75478	0.462000	0.41574	CGC		0.522	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		T	101483798	C	T	101483798	3	4	43	1	0	0	0	0	1	0	0	0	3764	768	27	1	657	1	COX15	10	101483798	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1306343	101483798	34050949	529	3706											
DNMBP	23268	broad.mit.edu;ucsc.edu	37	chr10	101716912	101716912	+	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	ccgtgcgccccagcagcttcGgccctgcagccagcctgcag	5	5	12	19	3	0	0	0	0	0	0	1	0	0	0	6	1	7	4	6	1	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:101716912G>A	ENST00000324109.4	-	4	410	c.319C>T	c.(319-321)Cga>Tga	p.R107*	DNMBP_ENST00000342239.3_Nonsense_Mutation_p.R107*|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	107	SH3 2. {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)		CAGCAGCTTCGGCCCTGCAGC	0.602																																						.											0													21	22	22					10																	101716912		2203	4299	6502	SO:0001587	stop_gained	23268			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.319C>T	10.37:g.101716912G>A	ENSP00000315659:p.Arg107*		Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124634	0.94429	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	.	.	.	5.46	4.55	0.56014	.	0.000000	0.41712	D	0.000830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6987	15.8694	0.79101	0.0:0.0:0.8632:0.1368	.	.	.	.	X	107	.	ENSP00000315659:R107X	R	-	1	2	DNMBP	101706902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.754000	0.47532	1.412000	0.46977	0.555000	0.69702	CGA		0.602	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		A	101716912	G	A	101716912	4	1	43	1	0	0	0	0	0	1	0	0	4674	1124	39	1	4470	1	DNMBP	10	101716912	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	233114	101716912	33817835	530	3707											
SEMA4G	57715	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	102743469	102743469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctcctctatgtggccTgtctgcgggaaggcagacga	6	9	12	14	2	2	1	0	0	2	1	4	3	4	2	4	3	1	1	4	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:102743469T>C	ENST00000370250.4	+	14	2471	c.2098T>C	c.(2098-2100)Tgt>Cgt	p.C700R	MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|SEMA4G_ENST00000210633.3_Missense_Mutation_p.C705R	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	700					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)		CTATGTGGCCTGTCTGCGGGA	0.637																																						.											0													54	49	51					10																	102743469		2203	4300	6503	SO:0001583	missense	57715			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.2098T>C	10.37:g.102743469T>C	ENSP00000359270:p.Cys700Arg		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	t	19.60	3.857746	0.71834	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.19394	2.15;2.21	5.53	5.53	0.82687	.	0.913030	0.09543	N	0.788077	T	0.33235	0.0856	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.01545	-1.1328	10	0.06757	T	0.87	.	14.843	0.70240	0.0:0.0:0.0:1.0	.	705	Q9NTN9-2	.	R	700;705	ENSP00000359270:C700R;ENSP00000210633:C705R	ENSP00000210633:C705R	C	+	1	0	SEMA4G	102733459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.232000	0.78116	2.111000	0.64477	0.449000	0.29647	TGT		0.637	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			C	102743469	T	C	102743469	3	2	43	1	0	0	0	0	1	0	0	0	14036	1580	55	2	2167	2	SEMA4G	10	102743469	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1026557	102743469	32791278	531	3708											
CALHM1	255022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	105215188	105215188	+	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	tgccttgatccgtgatgccaCgcagcttctccctttcctcc	4	13	7	17	2	1	2	0	2	1	0	5	2	4	2	6	0	3	2	6	0	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:105215188C>T	ENST00000329905.5	-	2	1008	c.872G>A	c.(871-873)cGt>cAt	p.R291H	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	291					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CGTGATGCCACGCAGCTTCTC	0.667																																						.											0													72	54	60					10																	105215188		2203	4300	6503	SO:0001583	missense	255022			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.872G>A	10.37:g.105215188C>T	ENSP00000329926:p.Arg291His		Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	7.643	0.681194	0.14907	.	.	ENSG00000185933	ENST00000329905	T	0.18657	2.2	4.8	1.81	0.25067	.	0.301816	0.30752	N	0.008960	T	0.08935	0.0221	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35500	-0.9786	10	0.11182	T	0.66	-6.5134	5.7241	0.18002	0.2155:0.5563:0.0:0.2282	.	291	Q8IU99	CAHM1_HUMAN	H	291	ENSP00000329926:R291H	ENSP00000329926:R291H	R	-	2	0	CALHM1	105205178	0.209000	0.23505	0.671000	0.29857	0.688000	0.40055	1.658000	0.37376	0.543000	0.28864	0.462000	0.41574	CGT		0.667	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		T	105215188	C	T	105215188	3	4	43	1	0	0	0	0	1	0	0	0	2582	536	19	1	172	1	CALHM1	10	105215188	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2471719	105215188	30319559	532	3709											
BTBD16	118663	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr10	124057337	124057337	+	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	agcaccatcaagaaattctaCgaggccggctgcaaggtgag	13	6	12	10	2	2	2	1	1	1	1	2	3	2	2	2	3	3	3	2	3	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:124057337C>T	ENST00000260723.4	+	8	896	c.645C>T	c.(643-645)taC>taT	p.Y215Y	BTBD16_ENST00000368994.2_Silent_p.Y216Y	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	215										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGAAATTCTACGAGGCCGGCT	0.567																																						.											0													61	54	56					10																	124057337		2203	4300	6503	SO:0001819	synonymous_variant	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.645C>T	10.37:g.124057337C>T			A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	CCDS31301.1																																																																																				0.567	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		T	124057337	C	T	124057337	2	4	43	1	0	0	0	0	0	0	0	1	1541	547	19	1		1	BTBD16	10	124057337	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	18842149	124057337	11477410	533	3710											
PLEKHA1	59338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	124172505	124172505	+	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	atggtgaatgtgggaaaaagCaagtgtcttacagaactgat	15	10	12	4	0	1	3	0	2	1	1	1	4	1	4	0	2	3	1	0	2	6	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:124172505C>T	ENST00000368990.3	+	6	543	c.412C>T	c.(412-414)Caa>Taa	p.Q138*	PLEKHA1_ENST00000433307.1_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000368988.1_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000538022.1_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000368989.2_Nonsense_Mutation_p.Q138*	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	138					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGAAAAAGCAAGTGTCTTA	0.383																																						.											0													132	119	124					10																	124172505		2203	4300	6503	SO:0001587	stop_gained	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.412C>T	10.37:g.124172505C>T	ENSP00000357986:p.Gln138*		B3KQ55|D3DRE2|Q9BVK0	Nonsense_Mutation	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	38	6.990199	0.97987	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.5925	20.2314	0.98350	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000357984:Q138X	Q	+	1	0	PLEKHA1	124162495	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.126000	0.77201	2.789000	0.95967	0.591000	0.81541	CAA		0.383	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		T	124172505	C	T	124172505	4	4	43	1	0	0	0	0	0	1	0	0	12055	711	25	4	430	4	PLEKHA1	10	124172505	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	115168	124172505	11362242	534	3711											
DOCK1	1793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	129216676	129216676	+	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	attgagaccatgcagctgacGaacgacaagatcaacagcat	16	6	9	10	2	1	3	1	2	0	2	1	6	1	3	1	0	5	3	1	0	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:129216676G>A	ENST00000280333.6	+	45	4609	c.4500G>A	c.(4498-4500)acG>acA	p.T1500T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1500	DHR-2.				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)		TGCAGCTGACGAACGACAAGA	0.597																																						.											0													62	73	69					10																	129216676		2199	4300	6499	SO:0001819	synonymous_variant	1793			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.4500G>A	10.37:g.129216676G>A			A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		A	129216676	G	A	129216676	2	1	43	1	0	0	0	0	0	0	0	1	4684	1045	37	1		1	DOCK1	10	129216676	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5044171	129216676	6318071	535	3712											
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	129901498	129901498	+	Missense_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	ccggctctttgtcggtgtgcGtggtctcccctgaggtttgt	1	15	14	11	3	2	1	0	1	2	0	4	1	2	1	3	4	1	2	3	4	0	2	rs371728740		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:129901498G>A	ENST00000368654.3	-	13	8981	c.8606C>T	c.(8605-8607)aCg>aTg	p.T2869M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2509M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2869	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)				GTCGGTGTGCGTGGTCTCCCC	0.542																																						.											0													181	160	167					10																	129901498		2203	4300	6503	SO:0001583	missense	4288			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.8606C>T	10.37:g.129901498G>A	ENSP00000357643:p.Thr2869Met		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	8.274	0.813950	0.16537	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02121	4.44;4.44	4.16	-2.78	0.05859	.	.	.	.	.	T	0.02610	0.0079	L	0.56769	1.78	0.09310	N	1	B;B;B	0.21905	0.018;0.062;0.012	B;B;B	0.21708	0.005;0.036;0.01	T	0.40646	-0.9552	9	0.39692	T	0.17	.	4.8027	0.13305	0.4516:0.2774:0.271:0.0	.	2868;2509;2869	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	2869;2509;2868	ENSP00000357643:T2869M;ENSP00000357642:T2509M	ENSP00000357642:T2509M	T	-	2	0	MKI67	129791488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.745000	0.00796	-0.609000	0.05724	-0.126000	0.14955	ACG		0.542	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129901498	G	A	129901498	3	1	43	1	0	0	0	0	1	0	0	0	9598	1145	40	1	1176	1	MKI67	10	129901498	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	684822	129901498	5633249	536	3713											
KNDC1	85442	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	134996849	134996849	+	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	cagcctgtcgtgcccacaggCgcacatctactctctggggg	6	8	12	15	2	2	0	0	0	2	0	4	0	2	0	2	3	3	1	2	3	1	1	rs201644896		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:134996849C>T	ENST00000304613.3	+	4	383	c.362C>T	c.(361-363)gCg>gTg	p.A121V	KNDC1_ENST00000368571.2_Splice_Site_p.A56V|KNDC1_ENST00000368572.2_Splice_Site_p.A121V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	121	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				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)		TGCCCACAGGCGCACATCTAC	0.657																																						.											0									VAL/ALA	1,4391		0,1,2195	17	16	17		362	2.5	0.6	10		17	0,8580		0,0,4290	yes	missense-near-splice	KNDC1	NM_152643.6	64	0,1,6485	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	121/1750	134996849	1,12971	2196	4290	6486	SO:0001630	splice_region_variant	85442			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.361-1C>T	10.37:g.134996849C>T			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804390	0.50315	2.28E-4	0.0	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.30182	1.54;1.54;1.84	4.49	2.45	0.29901	KIND (2);	0.088104	0.46145	D	0.000304	T	0.24967	0.0606	M	0.67953	2.075	0.30336	N	0.786205	P;B	0.44195	0.828;0.213	B;B	0.35353	0.201;0.015	T	0.35773	-0.9775	10	0.87932	D	0	-13.4062	5.8947	0.18933	0.0:0.6975:0.1944:0.1081	.	56;121	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	V	121;121;56	ENSP00000304437:A121V;ENSP00000357561:A121V;ENSP00000357560:A56V	ENSP00000304437:A121V	A	+	2	0	KNDC1	134846839	0.657000	0.27393	0.616000	0.29078	0.224000	0.24922	1.027000	0.30115	1.032000	0.39892	0.450000	0.29827	GCG		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Missense_Mutation	T	134996849	C	T	134996849	5	4	43	1	0	0	0	0	0	0	1	0	8426	782	27	1	376	1	KNDC1	10	134996849	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5095351	134996849	537898	537	3714											
ANO9	338440	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	428582	428582	+	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	ggccgagctgctgaagagcgCggaggccaggacgcggtaga	9	3	19	10	5	0	3	0	1	0	2	0	6	0	5	2	5	3	3	2	5	2	1	rs199542627		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:428582C>T	ENST00000332826.6	-	13	1162	c.1078G>A	c.(1078-1080)Gcg>Acg	p.A360T		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	360					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						CTGAAGAGCGCGGAGGCCAGG	0.667																																						.											0									THR/ALA	0,4388		0,0,2194	32	35	34		1078	2.2	0	11		34	2,8568	2.2+/-6.3	0,2,4283	yes	missense	ANO9	NM_001012302.2	58	0,2,6477	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	360/783	428582	2,12956	2194	4285	6479	SO:0001583	missense	338440			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.1078G>A	11.37:g.428582C>T	ENSP00000332788:p.Ala360Thr		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	9.850	1.193288	0.22037	0.0	2.33E-4	ENSG00000185101	ENST00000332826	T	0.63744	-0.06	4.17	2.21	0.28008	.	1.993630	0.02753	U	0.117660	T	0.66277	0.2773	L	0.48877	1.53	0.09310	N	1	D;D	0.64830	0.981;0.994	P;P	0.53954	0.481;0.738	T	0.52646	-0.8548	10	0.17369	T	0.5	.	8.8995	0.35485	0.0:0.764:0.1515:0.0845	.	61;360	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	T	360	ENSP00000332788:A360T	ENSP00000332788:A360T	A	-	1	0	ANO9	418582	0.013000	0.17824	0.002000	0.10522	0.001000	0.01503	1.289000	0.33307	0.879000	0.35944	-0.532000	0.04303	GCG		0.667	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		T	428582	C	T	428582	3	4	43	1	0	0	0	0	1	0	0	0	704	768	27	1	1314	1	ANO9	11	428582	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		428582	134577934	538	3715											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	9	5	16	11	4	2	0	1	0	1	0	2	3	2	2	0	4	4	3	0	4	2	1	rs202127660		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					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)		CAGCTCAGCGACTGGAGGGAC	0.682																																						.											0													21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897			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.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	43	1	0	0	0	0	1	0	0	0	9979	275	10	2	2120	2	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	825398	1253980	133752536	539	3716											
TRIM68	55128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	4624492	4624492	+	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	tgccttccaggtggcagttcGtttcctttcaccaacttcaa	7	14	7	13	1	2	0	2	0	0	0	5	0	4	0	4	2	2	3	4	2	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:4624492G>A	ENST00000300747.5	-	3	794	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	169					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGGCAGTTCGTTTCCTTTCA	0.522																																						.											0													184	159	167					11																	4624492		2201	4298	6499	SO:0001587	stop_gained	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.505C>T	11.37:g.4624492G>A	ENSP00000300747:p.Arg169*		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Nonsense_Mutation	SNP	ENST00000300747.5	37	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079343	0.94050	.	.	ENSG00000167333	ENST00000300747	.	.	.	4.76	1.54	0.23209	.	0.808617	0.10194	N	0.704299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.9031	0.13784	0.1013:0.0:0.5219:0.3768	.	.	.	.	X	169	.	ENSP00000300747:R169X	R	-	1	2	TRIM68	4581068	0.009000	0.17119	0.530000	0.27963	0.775000	0.43874	1.533000	0.36040	0.674000	0.31244	0.561000	0.74099	CGA		0.522	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		A	4624492	G	A	4624492	4	1	43	1	0	0	0	0	0	1	0	0	16538	1153	40	1	972	1	TRIM68	11	4624492	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3370512	4624492	130382024	540	3717											
TRIM34	53840	ucsc.edu	37	chr11	5655127	5655127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagaaaacttcctggAaggcaagaggagattctgaa	17	6	13	5	0	1	5	0	1	1	4	2	9	2	6	1	3	1	1	1	3	6	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:5655127A>G	ENST00000514226.1	+	3	854	c.517A>G	c.(517-519)Aag>Gag	p.K173E	TRIM34_ENST00000429814.2_Missense_Mutation_p.K173E|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K173E|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K527E	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	173					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTTCCTGGAAGGCAAGAGG	0.473																																						.											0													63	65	64					11																	5655127		2201	4297	6498	SO:0001583	missense	53840			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.517A>G	11.37:g.5655127A>G	ENSP00000422947:p.Lys173Glu		D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394975	0.42512	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.27890	3.56;3.56;3.56;1.64	3.78	2.61	0.31194	.	0.000000	0.33610	N	0.004729	T	0.32971	0.0847	M	0.71871	2.18	0.20196	N	0.999922	P;P;B	0.39376	0.67;0.646;0.025	B;B;B	0.42319	0.351;0.383;0.023	T	0.15093	-1.0449	10	0.46703	T	0.11	.	7.0658	0.25151	0.7678:0.2322:0.0:0.0	.	173;173;527	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	E	527;173;173;173;527	ENSP00000422947:K173E;ENSP00000402595:K173E;ENSP00000395982:K173E;ENSP00000346916:K527E	ENSP00000402595:K173E	K	+	1	0	TRIM34;TRIM6-TRIM34	5611703	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.381000	0.34362	0.772000	0.33382	0.533000	0.62120	AAG		0.473	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		G	5655127	A	G	5655127	3	3	43	1	0	0	0	0	1	0	0	0	16505	247	9	4	523	4	TRIM34	11	5655127	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1030635	5655127	129351389	541	3718											
DNHD1	144132	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	6555328	6555328	+	Missense_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	ggagtactgagcaccagctcGtctccctagagcgtcagttc	8	9	11	13	2	2	2	1	1	1	1	5	3	2	3	2	1	4	4	2	1	2	3	rs372619391		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6555328G>A	ENST00000527990.2	+	12	2923	c.2923G>A	c.(2923-2925)Gtc>Atc	p.V975I	DNHD1_ENST00000254579.6_Missense_Mutation_p.V975I			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	975					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)		GCACCAGCTCGTCTCCCTAGA	0.582																																						.											0								G	ILE/VAL	2,1382		0,2,690	25	24	24		2923	-0.3	0	11		24	0,3182		0,0,1591	no	missense	DNHD1	NM_144666.2	29	0,2,2281	AA,AG,GG		0.0,0.1445,0.0438	benign	975/4754	6555328	2,4564	692	1591	2283	SO:0001583	missense	144132			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.2923G>A	11.37:g.6555328G>A	ENSP00000436180:p.Val975Ile		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.752282	0.00663	0.001445	0.0	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.25085	1.82;1.82	6.17	-0.271	0.12922	.	.	.	.	.	T	0.08626	0.0214	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	9	0.37606	T	0.19	.	5.3228	0.15891	0.5461:0.1439:0.3099:0.0	.	975	Q96M86	DNHD1_HUMAN	I	975	ENSP00000254579:V975I;ENSP00000436180:V975I	ENSP00000254579:V975I	V	+	1	0	DNHD1	6511904	0.002000	0.14202	0.045000	0.18777	0.024000	0.10985	-0.061000	0.11693	-0.266000	0.09339	-0.238000	0.12139	GTC		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6555328	G	A	6555328	3	1	43	1	0	0	0	0	1	0	0	0	4668	1145	40	1	2978	1	DNHD1	11	6555328	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	900201	6555328	128451188	542	3719											
TAF10	6881	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	6632970	6632970	+	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	accacgggcttcacgtctccGttggccgcgctcggcagtac	5	8	12	16	6	2	0	1	0	1	0	4	0	2	0	3	3	1	5	3	3	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6632970G>A	ENST00000299424.4	-	2	789	c.312C>T	c.(310-312)aaC>aaT	p.N104N	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	104					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)		TCACGTCTCCGTTGGCCGCGC	0.637																																						.											0													36	42	40					11																	6632970		2201	4296	6497	SO:0001819	synonymous_variant	6881			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.312C>T	11.37:g.6632970G>A			O00703|Q13175|Q6FH13	Silent	SNP	ENST00000299424.4	37	CCDS7769.1																																																																																				0.637	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		A	6632970	G	A	6632970	2	1	43	1	0	0	0	0	0	0	0	1	15511	1136	40	1		1	TAF10	11	6632970	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	77642	6632970	128373546	543	3720											
TPP1	1200	broad.mit.edu;bcgsc.ca	37	chr11	6638918	6638918	+	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	agaatggcacttctgggctcCggctgccaagagccattttt	8	11	11	11	1	1	2	0	0	1	2	2	2	2	2	3	3	2	3	3	3	2	3	rs201613668		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6638918C>T	ENST00000299427.6	-	4	379	c.319G>A	c.(319-321)Gga>Aga	p.G107R	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'UTR	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(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)	TTCTGGGCTCCGGCTGCCAAG	0.542																																						.											0													145	137	140					11																	6638918		2201	4296	6497	SO:0001583	missense	1200			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.319G>A	11.37:g.6638918C>T	ENSP00000299427:p.Gly107Arg		Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761740	0.69763	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	T;T	0.80304	-1.36;-1.36	5.7	5.7	0.88788	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.000000	0.85682	D	0.000000	D	0.92414	0.7592	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93911	0.7197	10	0.87932	D	0	-19.7212	17.0031	0.86385	0.0:1.0:0.0:0.0	.	107;107	B4DEQ3;O14773	.;TPP1_HUMAN	R	107	ENSP00000299427:G107R;ENSP00000398136:G107R	ENSP00000299427:G107R	G	-	1	0	TPP1	6595494	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	6.487000	0.73633	2.688000	0.91661	0.655000	0.94253	GGA		0.542	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			T	6638918	C	T	6638918	3	4	43	1	0	0	0	0	1	0	0	0	16408	661	23	1	1412	1	TPP1	11	6638918	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5948	6638918	128367598	544	3721											
DCHS1	8642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	6650025	6650025	+	Missense_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	ccactcgaacagtgacatgcGttaactgaggaggtgagccc	11	7	12	11	2	0	3	0	3	0	0	1	5	0	4	2	2	4	1	2	2	2	1	rs146184962		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6650025G>A	ENST00000299441.3	-	13	5609	c.5198C>T	c.(5197-5199)aCg>aTg	p.T1733M	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1733	Cadherin 16. {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)		AGTGACATGCGTTAACTGAGG	0.557													G|||	1	0.000199681	0	0	5008	,	,		24423	0		0.001	False		,,,				2504	0					.											0													84	74	77					11																	6650025		2201	4296	6497	SO:0001583	missense	8642			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.5198C>T	11.37:g.6650025G>A	ENSP00000299441:p.Thr1733Met		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.19	1.566660	0.28003	.	.	ENSG00000166341	ENST00000299441	T	0.01725	4.67	4.58	3.62	0.41486	Cadherin (4);Cadherin-like (1);	0.150272	0.31041	N	0.008375	T	0.04724	0.0128	L	0.58810	1.83	0.32005	N	0.602907	D	0.59767	0.986	P	0.55667	0.781	T	0.02202	-1.1196	10	0.59425	D	0.04	.	8.5943	0.33705	0.0916:0.1692:0.7392:0.0	.	1733	Q96JQ0	PCD16_HUMAN	M	1733	ENSP00000299441:T1733M	ENSP00000299441:T1733M	T	-	2	0	DCHS1	6606601	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	7.390000	0.79816	2.385000	0.81259	0.563000	0.77884	ACG		0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6650025	G	A	6650025	3	1	43	1	0	0	0	0	1	0	0	0	4287	1145	40	1	4734	1	DCHS1	11	6650025	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	11107	6650025	128356491	545	3722											
NLRP10	338322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	7982431	7982431	+	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	catccaggatgaacaggagcCgctctggctgcctcagaatc	10	7	11	13	1	2	2	1	1	1	1	4	4	3	4	3	3	3	2	3	3	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:7982431C>T	ENST00000328600.2	-	2	889	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	243	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAACAGGAGCCGCTCTGGCTG	0.552																																						.											0													42	43	43					11																	7982431		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.728G>A	11.37:g.7982431C>T	ENSP00000327763:p.Arg243Gln		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192945	0.58017	.	.	ENSG00000182261	ENST00000328600	D	0.83591	-1.74	4.85	2.94	0.34122	NACHT nucleoside triphosphatase (1);	0.000000	0.35207	N	0.003364	D	0.87795	0.6267	M	0.66439	2.03	0.24750	N	0.992983	D	0.89917	1.0	D	0.85130	0.997	T	0.77940	-0.2399	10	0.59425	D	0.04	.	8.135	0.31050	0.0:0.7994:0.0:0.2006	.	243	Q86W26	NAL10_HUMAN	Q	243	ENSP00000327763:R243Q	ENSP00000327763:R243Q	R	-	2	0	NLRP10	7939007	0.002000	0.14202	0.998000	0.56505	0.447000	0.32167	1.326000	0.33735	1.207000	0.43291	-0.140000	0.14226	CGG		0.552	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7982431	C	T	7982431	3	4	43	1	0	0	0	0	1	0	0	0	10472	652	23	1	1243	1	NLRP10	11	7982431	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1332406	7982431	127024085	546	3723											
SBF2	81846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	9802030	9802030	+	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	ggcactctgtccatcctgggCgcagaagttatacacacgtt	9	10	10	12	2	1	1	0	0	1	1	3	1	3	1	2	2	1	4	2	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:9802030C>T	ENST00000256190.8	-	40	5622	c.5485G>A	c.(5485-5487)Gcc>Acc	p.A1829T	SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1829	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)	p.A1829T(1)		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)		CCATCCTGGGCGCAGAAGTTA	0.488																																						.											1	Substitution - Missense(1)	large_intestine(1)											141	119	127					11																	9802030		2201	4294	6495	SO:0001583	missense	81846			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.5485G>A	11.37:g.9802030C>T	ENSP00000256190:p.Ala1829Thr		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743529	0.96873	.	.	ENSG00000133812	ENST00000256190	T	0.27557	1.66	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68599	-0.5366	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	1829	Q86WG5	MTMRD_HUMAN	T	1829	ENSP00000256190:A1829T	ENSP00000256190:A1829T	A	-	1	0	SBF2	9758606	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.918000	0.69996	2.814000	0.96858	0.655000	0.94253	GCC		0.488	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		T	9802030	C	T	9802030	3	4	43	1	0	0	0	0	1	0	0	0	13859	768	27	1	68	1	SBF2	11	9802030	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1819599	9802030	125204486	547	3724											
GALNTL4	374378	broad.mit.edu;mdanderson.org	37	chr11	11400665	11400665	+	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	cacgtgggcatcaaagagtgCcaccacaggggcagtggccg	10	4	15	12	2	1	1	1	0	0	1	1	1	1	1	3	4	1	2	3	4	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:11400665C>T	ENST00000227756.4	-	4	1153	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	248	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCAAAGAGTGCCACCACAGGG	0.607																																						.											0													68	59	62					11																	11400665		2201	4294	6495	SO:0001583	missense	374378			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.742G>A	11.37:g.11400665C>T	ENSP00000227756:p.Ala248Thr		O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941178	0.73557	.	.	ENSG00000110328	ENST00000227756	T	0.61274	0.12	5.82	5.82	0.92795	Glycosyl transferase, family 2 (1);	0.066568	0.56097	D	0.000025	T	0.50292	0.1607	N	0.11284	0.12	0.80722	D	1	P	0.49447	0.924	P	0.55785	0.784	T	0.41698	-0.9494	10	0.02654	T	1	.	18.6715	0.91513	0.0:1.0:0.0:0.0	.	248	Q6P9A2	GLTL4_HUMAN	T	248	ENSP00000227756:A248T	ENSP00000227756:A248T	A	-	1	0	GALNTL4	11357241	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	7.760000	0.85248	2.762000	0.94881	0.514000	0.50259	GCA		0.607	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		T	11400665	C	T	11400665	3	4	43	1	0	0	0	0	1	0	0	0	6223	739	26	3	1113	3	GALNTL4	11	11400665	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1598635	11400665	123605851	548	3725											
KCNC1	3746	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	17793281	17793281	+	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	tctgcctggagacccacgagCgcttcaaccccatcgtgaac	9	7	9	16	3	2	2	1	1	1	1	3	4	2	2	4	1	4	1	4	1	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:17793281C>T	ENST00000379472.3	+	2	670	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R214C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GACCCACGAGCGCTTCAACCC	0.567																																						.											0													170	137	148					11																	17793281		2200	4293	6493	SO:0001583	missense	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.640C>T	11.37:g.17793281C>T	ENSP00000368785:p.Arg214Cys		K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799882	0.70567	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97430	-4.38;-4.38	4.7	3.75	0.43078	.	0.123303	0.48286	D	0.000188	D	0.93818	0.8023	N	0.14661	0.345	0.53688	D	0.99997	P;P	0.49358	0.923;0.896	P;B	0.48677	0.586;0.416	D	0.94079	0.7342	10	0.62326	D	0.03	.	11.9761	0.53091	0.3982:0.6018:0.0:0.0	.	214;214	Q3KNS8;P48547	.;KCNC1_HUMAN	C	214	ENSP00000265969:R214C;ENSP00000368785:R214C	ENSP00000265969:R214C	R	+	1	0	KCNC1	17749857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.554000	0.60760	2.166000	0.68216	0.505000	0.49811	CGC		0.567	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		T	17793281	C	T	17793281	3	4	43	1	0	0	0	0	1	0	0	0	8014	768	27	1	646	1	KCNC1	11	17793281	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	6392616	17793281	117213235	549	3726											
SPTY2D1	144108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	18636542	18636542	+	Missense_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	acatgtaccactgactgtccGcctagagggatttgagtcat	10	11	10	10	1	1	3	1	2	0	1	2	4	2	4	3	1	1	1	3	1	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:18636542G>A	ENST00000336349.5	-	3	1514	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	427	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGACTGTCCGCCTAGAGGGA	0.582																																						.											0													94	89	91					11																	18636542		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1279C>T	11.37:g.18636542G>A	ENSP00000337991:p.Arg427Trp		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551665	0.27739	.	.	ENSG00000179119	ENST00000336349	T	0.32272	1.46	5.95	3.06	0.35304	.	0.651159	0.15755	N	0.246242	T	0.31451	0.0797	M	0.76328	2.33	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.31668	-0.9935	10	0.66056	D	0.02	-0.1893	6.651	0.22961	0.1285:0.0:0.5147:0.3568	.	427	Q68D10	SPT2_HUMAN	W	427	ENSP00000337991:R427W	ENSP00000337991:R427W	R	-	1	2	SPTY2D1	18593118	0.011000	0.17503	0.043000	0.18650	0.749000	0.42624	1.693000	0.37742	0.402000	0.25451	0.563000	0.77884	CGG		0.582	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		A	18636542	G	A	18636542	3	1	43	1	0	0	0	0	1	0	0	0	15125	1086	38	1	794	1	SPTY2D1	11	18636542	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	843261	18636542	116369974	550	3727											
ZDHHC13	54503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	19170818	19170818	+	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	ggagagggattcagcagcatCcacctggcagtattgtttca	10	10	12	9	0	2	1	2	0	0	1	3	3	3	2	2	3	2	5	2	3	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:19170818C>A	ENST00000446113.2	+	5	580	c.459C>A	c.(457-459)atC>atA	p.I153I	ZDHHC13_ENST00000399351.3_Silent_p.I23I|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	153					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						TCAGCAGCATCCACCTGGCAG	0.403																																						.											0													93	82	85					11																	19170818		1910	4113	6023	SO:0001819	synonymous_variant	54503			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.459C>A	11.37:g.19170818C>A			Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	ENST00000446113.2	37	CCDS44550.1																																																																																				0.403	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		A	19170818	C	A	19170818	2	1	43	1	0	0	0	0	0	0	0	1	17600	845	30	5		5	ZDHHC13	11	19170818	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	534276	19170818	115835698	551	3728											
KIF18A	81930	broad.mit.edu;mdanderson.org	37	chr11	28110079	28110079	+	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	tataatgcctacctttgaatCtgctaaggcattgatgacat	12	14	7	8	0	1	3	0	3	1	0	1	3	1	3	2	1	3	2	2	1	5	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:28110079C>G	ENST00000263181.6	-	6	1179	c.889G>C	c.(889-891)Gat>Cat	p.D297H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	297	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 metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ACCTTTGAATCTGCTAAGGCA	0.328																																						.											0													66	60	62					11																	28110079		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.889G>C	11.37:g.28110079C>G	ENSP00000263181:p.Asp297His		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033272	0.35893	.	.	ENSG00000121621	ENST00000263181	T	0.75938	-0.98	5.56	3.68	0.42216	Kinesin, motor domain (3);	0.093895	0.64402	D	0.000001	D	0.86789	0.6017	M	0.89287	3.02	0.51012	D	0.9999	D	0.71674	0.998	D	0.71414	0.973	D	0.88015	0.2765	10	0.87932	D	0	.	12.4601	0.55727	0.0:0.8619:0.0:0.1381	.	297	Q8NI77	KI18A_HUMAN	H	297	ENSP00000263181:D297H	ENSP00000263181:D297H	D	-	1	0	KIF18A	28066655	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	4.062000	0.57492	0.695000	0.31675	-0.229000	0.12294	GAT		0.328	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		G	28110079	C	G	28110079	3	3	43	1	0	0	0	0	1	0	0	0	8280	913	32	5	1855	5	KIF18A	11	28110079	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8939261	28110079	106896437	552	3729											
FBXO3	26273	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	33770354	33770354	+	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	ggtccttgaacttcttccacGtcacccttagcatttgttat	7	16	6	12	1	2	1	1	1	1	0	4	1	4	1	3	1	2	2	3	1	3	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:33770354G>A	ENST00000265651.3	-	9	1035	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	FBXO3_ENST00000530401.1_Silent_p.D334D|FBXO3_ENST00000532057.1_Silent_p.D26D|FBXO3_ENST00000531080.1_Silent_p.D26D|FBXO3_ENST00000534136.1_Silent_p.D339D|FBXO3_ENST00000448981.2_Silent_p.D339D|FBXO3_ENST00000526785.1_Silent_p.D226D	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	339	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)		CTTCTTCCACGTCACCCTTAG	0.403																																						.											0													117	113	114					11																	33770354		2202	4298	6500	SO:0001819	synonymous_variant	26273			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.1017C>T	11.37:g.33770354G>A			B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	CCDS7887.1																																																																																				0.403	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		A	33770354	G	A	33770354	2	1	43	1	0	0	0	0	0	0	0	1	5739	1136	40	1		1	FBXO3	11	33770354	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5660275	33770354	101236162	553	3730											
ABTB2	25841	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	34192538	34192538	+	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	tcctcccacagttgagcatgCggaaacccaggtcctggttg	8	9	11	13	1	0	1	0	1	0	0	3	2	3	2	4	3	3	3	4	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:34192538C>T	ENST00000435224.2	-	5	1902	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	ABTB2_ENST00000298992.2_Missense_Mutation_p.R307H|ABTB2_ENST00000530814.1_5'Flank	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	493					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)				GTTGAGCATGCGGAAACCCAG	0.562																																						.											0													109	87	95					11																	34192538		2202	4298	6500	SO:0001583	missense	25841			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.1478G>A	11.37:g.34192538C>T	ENSP00000410157:p.Arg493His		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	34	5.350737	0.95830	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.62105	0.06;0.05	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	L	0.45698	1.435	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77341	-0.2624	10	0.66056	D	0.02	.	18.3507	0.90337	0.0:1.0:0.0:0.0	.	307	Q8N961	ABTB2_HUMAN	H	493;307	ENSP00000410157:R493H;ENSP00000298992:R307H	ENSP00000298992:R307H	R	-	2	0	ABTB2	34149114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.329000	0.79093	0.491000	0.48974	CGC		0.562	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		T	34192538	C	T	34192538	3	4	43	1	0	0	0	0	1	0	0	0	103	768	27	1	1651	1	ABTB2	11	34192538	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	422184	34192538	100813978	554	3731											
LRP4	4038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	46911059	46911059	+	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	cacaggtgcgtgcagcctccGttgttgtccccacagcggtt	5	10	12	14	3	0	0	0	0	0	0	2	0	2	0	4	2	4	4	4	2	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	706	EGF-like 3.				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)		TGCAGCCTCCGTTGTTGTCCC	0.587											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													75	72	73					11																	46911059		2201	4299	6500	SO:0001819	synonymous_variant	4038			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.2118C>T	11.37:g.46911059G>A		942	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		A	46911059	G	A	46911059	2	1	43	1	0	0	0	0	0	0	0	1	8959	1136	40	1		1	LRP4	11	46911059	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12718521	46911059	88095457	555	3732											
GLYATL1	92292	broad.mit.edu;bcgsc.ca	37	chr11	58711065	58711065	+	5'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctagtatccccaggagCgcgaagtgaacacggaaggt	11	7	13	10	3	1	1	0	1	1	0	2	4	2	3	2	3	2	2	2	3	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:58711065C>T	ENST00000317391.4	+	0	224				GLYATL1_ENST00000300079.5_Missense_Mutation_p.A25V|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tccccaggagcgcgaagtgaa	0.443																																						.											0													57	53	54					11																	58711065		2201	4295	6496	SO:0001623	5_prime_UTR_variant	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-117C>T	11.37:g.58711065C>T			A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	6.405	0.442787	0.12164	.	.	ENSG00000166840	ENST00000526351;ENST00000300079	T;T	0.52526	0.66;2.03	0.113	0.113	0.14631	.	.	.	.	.	T	0.18425	0.0442	N	0.08118	0	0.09310	N	0.999999	P	0.47841	0.901	B	0.29176	0.099	T	0.14144	-1.0483	8	0.87932	D	0	.	.	.	.	.	25	Q969I3-2	.	V	17;25	ENSP00000434652:A17V;ENSP00000300079:A25V	ENSP00000300079:A25V	A	+	2	0	GLYATL1	58467641	0.006000	0.16342	0.018000	0.16275	0.019000	0.09904	0.212000	0.17497	0.183000	0.20059	0.186000	0.17326	GCG		0.443	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		T	58711065	C	T	58711065	1	4	43	0	1	0	0	0	0	0	0	0	6480	768	27	1		1	GLYATL1	11	58711065	5'UTR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11800006	58711065	76295451	556	3733											
MS4A15	219995	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	60535105	60535105	+	Missense_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	tcttcttcatcgagggcggcGtccccttctggggaggagcc	4	10	14	13	3	4	0	1	0	3	0	6	3	5	2	3	5	1	0	3	5	0	3	rs76307175	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60535105G>A	ENST00000405633.3	+	3	404	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	MS4A15_ENST00000337911.4_Missense_Mutation_p.V16I|MS4A15_ENST00000528170.1_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	109						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CGAGGGCGGCGTCCCCTTCTG	0.682													G|||	20	0.00399361	0	0.0072	5008	,	,		13559	0.001		0.0139	False		,,,				2504	0					.											0								G	ILE/VAL,ILE/VAL	6,4334		0,6,2164	30	23	25		325,46	2.8	0.9	11	dbSNP_134	25	42,8438		0,42,4198	yes	missense,missense	MS4A15	NM_001098835.1,NM_152717.2	29,29	0,48,6362	AA,AG,GG		0.4953,0.1382,0.3744	benign,benign	109/241,16/148	60535105	48,12772	2170	4240	6410	SO:0001583	missense	219995			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.325G>A	11.37:g.60535105G>A	ENSP00000386022:p.Val109Ile		A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	12	0.005494505494505495	0	0.0	1	0.0027624309392265192	0	0.0	11	0.014511873350923483	G	10.69	1.420060	0.25552	0.001382	0.004953	ENSG00000166961	ENST00000337911;ENST00000405633	T;T	0.02323	4.34;4.34	4.93	2.75	0.32379	.	0.320649	0.30311	N	0.009907	T	0.01092	0.0036	N	0.11106	0.095	0.29717	N	0.838982	B	0.24368	0.102	B	0.26693	0.072	T	0.38585	-0.9654	10	0.27082	T	0.32	-50.2615	3.8604	0.08993	0.1587:0.2552:0.5861:0.0	.	109	Q8N5U1	M4A15_HUMAN	I	16;109	ENSP00000338692:V16I;ENSP00000386022:V109I	ENSP00000338692:V16I	V	+	1	0	MS4A15	60291681	0.978000	0.34361	0.914000	0.36105	0.562000	0.35680	1.994000	0.40757	1.052000	0.40392	0.561000	0.74099	GTC		0.682	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			A	60535105	G	A	60535105	3	1	43	1	0	0	0	0	1	0	0	0	9859	1145	40	1	331	1	MS4A15	11	60535105	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1824040	60535105	74471411	557	3734											
TMEM109	79073	hgsc.bcm.edu;mdanderson.org	37	chr11	60689599	60689599	+	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	agctgcgctggcgccagaggCgagcggccaagggggcccgc	6	2	19	14	5	0	1	0	0	0	1	0	2	0	1	3	5	3	2	3	5	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60689599C>T	ENST00000227525.3	+	4	1097	c.694C>T	c.(694-696)Cga>Tga	p.R232*	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Nonsense_Mutation_p.R232*|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	232					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						GCGCCAGAGGCGAGCGGCCAA	0.692																																						.											0																																										SO:0001587	stop_gained	79073				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.694C>T	11.37:g.60689599C>T	ENSP00000227525:p.Arg232*			Nonsense_Mutation	SNP	ENST00000227525.3	37	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307184	0.81247	.	.	ENSG00000110108	ENST00000227525;ENST00000536171	.	.	.	5.05	4.05	0.47172	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.47183	D	0.999345	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.6751	8.9868	0.35999	0.1609:0.751:0.0:0.0881	.	.	.	.	X	232	.	ENSP00000227525:R232X	R	+	1	2	TMEM109	60446175	0.920000	0.31207	0.993000	0.49108	0.983000	0.72400	1.480000	0.35464	2.344000	0.79699	0.650000	0.86243	CGA		0.692	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		T	60689599	C	T	60689599	4	4	43	1	0	0	0	0	0	1	0	0	16022	760	27	1	704	1	TMEM109	11	60689599	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	154494	60689599	74316917	558	3735											
VPS37C	55048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	60899839	60899839	+	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	ggcgcaccgggggtggtggaCggggtggaggggcatcgccg	4	4	24	9	5	0	0	0	0	0	0	1	2	0	2	2	10	0	2	2	10	0	0	rs375223987		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60899839C>T	ENST00000301765.5	-	5	753	c.521G>A	c.(520-522)cGt>cAt	p.R174H		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	174	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)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGGTGGTGGACGGGGTGGAGG	0.672																																						.											0								C	HIS/ARG	0,4392		0,0,2196	12	15	14		521	3.7	0.1	11		14	1,8559		0,1,4279	no	missense	VPS37C	NM_017966.4	29	0,1,6475	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	174/356	60899839	1,12951	2196	4280	6476	SO:0001583	missense	55048			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.521G>A	11.37:g.60899839C>T	ENSP00000301765:p.Arg174His		Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522243	0.13066	0.0	1.17E-4	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.46451	0.87	4.71	3.67	0.42095	.	0.814749	0.11502	N	0.557626	T	0.21307	0.0513	L	0.27053	0.805	0.09310	N	1	P	0.45715	0.865	B	0.36504	0.226	T	0.04693	-1.0933	10	0.15066	T	0.55	-15.5277	2.6626	0.05031	0.0:0.4542:0.31:0.2359	.	174	A5D8V6	VP37C_HUMAN	H	174	ENSP00000301765:R174H	ENSP00000301765:R174H	R	-	2	0	VPS37C	60656415	0.000000	0.05858	0.123000	0.21794	0.470000	0.32858	0.020000	0.13466	2.165000	0.68154	0.462000	0.41574	CGT		0.672	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		T	60899839	C	T	60899839	3	4	43	1	0	0	0	0	1	0	0	0	17204	536	19	1	550	1	VPS37C	11	60899839	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	210240	60899839	74106677	559	3736											
DDB1	1642	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	61081572	61081572	+	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	aagagggcaacttcaagataCgagccgagatgtccgtccag	13	6	12	10	3	1	3	1	0	0	3	3	5	3	3	3	1	3	1	3	1	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61081572C>T	ENST00000301764.7	-	14	2097	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	567	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				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						CTTCAAGATACGAGCCGAGAT	0.507								Nucleotide excision repair (NER)																														.											0													92	95	94					11																	61081572		2203	4299	6502	SO:0001583	missense	1642			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.1700G>A	11.37:g.61081572C>T	ENSP00000301764:p.Arg567His		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787793	0.70337	.	.	ENSG00000167986	ENST00000301764;ENST00000535147;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T	0.52526	1.17;0.7;0.66	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.60957	1.885	0.80722	D	1	P	0.38455	0.632	B	0.34722	0.188	T	0.50508	-0.8820	10	0.52906	T	0.07	-12.6831	20.1379	0.98040	0.0:1.0:0.0:0.0	.	567	Q16531	DDB1_HUMAN	H	567;34;131;218;286	ENSP00000301764:R567H;ENSP00000437713:R218H;ENSP00000445563:R286H	ENSP00000301764:R567H	R	-	2	0	DDB1	60838148	1.000000	0.71417	0.839000	0.33178	0.920000	0.55202	7.370000	0.79589	2.779000	0.95612	0.655000	0.94253	CGT		0.507	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		T	61081572	C	T	61081572	3	4	43	1	0	0	0	0	1	0	0	0	4323	536	19	1	1778	1	DDB1	11	61081572	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	181733	61081572	73924944	560	3737											
DAGLA	747	hgsc.bcm.edu	37	chr11	61511437	61511437	+	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	gtggcggcgtcactcctgagCggccccccagtgctgcggcc	3	6	15	17	4	1	1	1	1	0	0	2	1	2	1	5	4	3	1	5	4	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61511437C>T	ENST00000257215.5	+	20	2721	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	869					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACTCCTGAGCGGCCCCCCAG	0.731																																						.											0													27	36	33					11																	61511437		2165	4215	6380	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2605C>T	11.37:g.61511437C>T	ENSP00000257215:p.Arg869Trp		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408759	0.42715	.	.	ENSG00000134780	ENST00000257215	T	0.24723	1.84	3.21	2.27	0.28462	.	0.599264	0.16232	N	0.223561	T	0.15132	0.0365	N	0.14661	0.345	0.41869	D	0.990266	D	0.69078	0.997	B	0.44315	0.446	T	0.04915	-1.0918	10	0.72032	D	0.01	-24.8238	6.5939	0.22661	0.18:0.7248:0.0:0.0952	.	869	Q9Y4D2	DGLA_HUMAN	W	869	ENSP00000257215:R869W	ENSP00000257215:R869W	R	+	1	2	DAGLA	61268013	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	4.100000	0.57762	0.899000	0.36444	0.561000	0.74099	CGG		0.731	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		T	61511437	C	T	61511437	3	4	43	1	0	0	0	0	1	0	0	0	4226	759	27	1	2679	1	DAGLA	11	61511437	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	429865	61511437	73495079	561	3738											
INCENP	3619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	61906227	61906227	+	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	gaggaggctgagcctgtggcGgcagctgagccagaggtaag	9	5	19	8	1	0	3	0	2	0	1	0	5	0	4	2	5	3	4	2	5	1	1	rs562346092	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61906227G>A	ENST00000394818.3	+	6	1360	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	INCENP_ENST00000278849.4_Silent_p.A386A	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	386					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						AGCCTGTGGCGGCAGCTGAGC	0.637													G|||	2	0.000399361	0	0	5008	,	,		16788	0		0	False		,,,				2504	0.002					.											0													49	54	52					11																	61906227		2202	4299	6501	SO:0001819	synonymous_variant	3619			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.1158G>A	11.37:g.61906227G>A			A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																				0.637	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		A	61906227	G	A	61906227	2	1	43	1	0	0	0	0	0	0	0	1	7733	1103	39	1		1	INCENP	11	61906227	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	394790	61906227	73100289	562	3739											
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr11	62286931	62286931	+	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	gacttgatgtcagctttgggGctttttgccccaaatccaaa	9	13	9	10	0	1	1	1	1	0	0	2	2	2	1	3	2	2	2	3	2	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:62286931G>A	ENST00000378024.4	-	5	15232	c.14958C>T	c.(14956-14958)agC>agT	p.S4986S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4986					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)				CAGCTTTGGGGCTTTTTGCCC	0.458																																						.											0													85	91	89					11																	62286931		2202	4299	6501	SO:0001819	synonymous_variant	79026			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.14958C>T	11.37:g.62286931G>A			A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62286931	G	A	62286931	2	1	43	1	0	0	0	0	0	0	0	1	414	1194	42	3		3	AHNAK	11	62286931	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	380704	62286931	72719585	563	3740											
WDR74	54663	broad.mit.edu;mdanderson.org	37	chr11	62601996	62601996	+	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	ggatgctggatcataaacacGgacctagaggaaggctgaag	14	6	14	7	1	1	2	1	1	0	1	1	6	1	6	1	5	2	2	1	5	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:62601996G>A	ENST00000525239.1	-	8	1159	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000278856.4_Missense_Mutation_p.R208C|WDR74_ENST00000540620.1_5'Flank|WDR74_ENST00000529106.1_Missense_Mutation_p.R208C|WDR74_ENST00000525752.1_Missense_Mutation_p.R151C|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000311713.7_Missense_Mutation_p.R208C|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000541317.1_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|STX5_ENST00000294179.3_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	208					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						TCATAAACACGGACCTAGAGG	0.572																																						.											0													39	44	43					11																	62601996		2056	4210	6266	SO:0001583	missense	54663				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.622C>T	11.37:g.62601996G>A	ENSP00000432119:p.Arg208Cys		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950333	0.53186	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	3.95	3.02	0.34903	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.202885	0.38837	N	0.001555	T	0.52419	0.1733	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66497	0.944;0.919;0.944	T	0.55611	-0.8114	10	0.87932	D	0	-0.5544	8.9454	0.35756	0.0:0.0:0.5992:0.4008	.	151;208;208	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	C	208;208;208;208;151	ENSP00000308931:R208C;ENSP00000435726:R208C;ENSP00000432119:R208C;ENSP00000278856:R208C;ENSP00000432113:R151C	ENSP00000278856:R208C	R	-	1	0	WDR74	62358572	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	3.834000	0.55798	0.835000	0.34877	0.313000	0.20887	CGT		0.572	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		A	62601996	G	A	62601996	3	1	43	1	0	0	0	0	1	0	0	0	17321	1116	39	1	555	1	WDR74	11	62601996	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	315065	62601996	72404520	564	3741											
CCDC88B	283234	broad.mit.edu	37	chr11	64120286	64120286	+	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	ccctgctggcagagcgtgaaCgcctgatgcaagatgggcat	9	7	14	11	2	0	4	0	2	0	2	0	4	0	4	2	2	4	4	2	2	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:64120286C>T	ENST00000356786.5	+	20	3471	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R295C	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1143						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						AGAGCGTGAACGCCTGATGCA	0.682																																						.											0													24	28	26					11																	64120286		2199	4295	6494	SO:0001583	missense	283234			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.3427C>T	11.37:g.64120286C>T	ENSP00000349238:p.Arg1143Cys		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532071	0.64972	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.47869	1.82;0.83	3.95	2.94	0.34122	.	.	.	.	.	T	0.58278	0.2111	L	0.54323	1.7	0.46701	D	0.999169	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.72625	0.869;0.978;0.869	T	0.58781	-0.7576	9	0.59425	D	0.04	.	8.2175	0.31521	0.2379:0.7621:0.0:0.0	.	1143;279;1143	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	C	1025;1143;295	ENSP00000349238:R1143C;ENSP00000352974:R295C	ENSP00000349238:R1143C	R	+	1	0	CCDC88B	63876862	1.000000	0.71417	0.940000	0.37924	0.920000	0.55202	0.994000	0.29693	2.196000	0.70406	0.462000	0.41574	CGC		0.682	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		T	64120286	C	T	64120286	3	4	43	1	0	0	0	0	1	0	0	0	2864	536	19	1	3505	1	CCDC88B	11	64120286	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1518290	64120286	70886230	565	3742											
ATG2A	23130	broad.mit.edu;bcgsc.ca	37	chr11	64665396	64665396	+	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	accagtggtctctacgccttCggcctgcccttccagggggc	4	9	12	16	2	1	0	0	0	1	0	4	0	2	0	5	4	2	0	5	4	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:64665396C>T	ENST00000377264.3	-	35	5021	c.4909G>A	c.(4909-4911)Gaa>Aaa	p.E1637K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E1639K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1637					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						TCTACGCCTTCGGCCTGCCCT	0.667																																						.											0													32	38	36					11																	64665396		2200	4296	6496	SO:0001583	missense	23130				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.4909G>A	11.37:g.64665396C>T	ENSP00000366475:p.Glu1637Lys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.23|10.23	1.293510|1.293510	0.23564|0.23564	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.06608|.	3.28;3.28|.	4.38|4.38	0.0643|0.0643	0.14352|0.14352	.|.	0.464888|.	0.21212|.	N|.	0.078283|.	T|T	0.40145|0.40145	0.1105|0.1105	L|L	0.61387|0.61387	1.9|1.9	0.09310|0.09310	N|N	1|1	B;B|.	0.26577|.	0.095;0.153|.	B;B|.	0.20184|.	0.013;0.028|.	T|T	0.35201|0.35201	-0.9798|-0.9798	10|5	0.10636|.	T|.	0.68|.	.|.	3.6629|3.6629	0.08245|0.08245	0.0:0.4688:0.188:0.3431|0.0:0.4688:0.188:0.3431	.|.	1637;1639|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	K|Q	1639;1637|1440	ENSP00000410522:E1639K;ENSP00000366475:E1637K|.	ENSP00000366475:E1637K|.	E|R	-|-	1|2	0|0	ATG2A|ATG2A	64421972|64421972	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	0.353000|0.353000	0.20130|0.20130	-0.066000|-0.066000	0.12998|0.12998	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.667	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64665396	C	T	64665396	3	4	43	1	0	0	0	0	1	0	0	0	1093	893	31	1	935	1	ATG2A	11	64665396	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	545110	64665396	70341120	566	3743											
TSGA10IP	254187	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	65721060	65721060	+	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	gcctgctgcaggcctgggagCggcagcggcaggaggagcgg	6	3	21	11	3	0	0	0	0	0	0	0	3	0	3	2	7	5	4	2	7	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65721060C>T	ENST00000532620.1	+	0	1405				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R362R(1)		endometrium(2)|kidney(3)|lung(9)	14						GGCCTGGGAGCGGCAGCGGCA	0.697																																						.											1	Substitution - coding silent(1)	lung(1)											40	46	44					11																	65721060		1619	3582	5201			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65721060C>T			Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.697	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		T	65721060	C	T	65721060	1	4	43	0	1	0	0	0	0	0	0	0	16615	759	27	1		1	TSGA10IP	11	65721060	RNA	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1055664	65721060	69285456	567	3744											
SART1	9092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	65744159	65744159	+	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	gatgaggagcgctcagccaaCggtggctccgaatctgacgg	9	6	15	11	4	2	2	1	2	1	0	3	5	3	3	2	4	3	2	2	4	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65744159C>T	ENST00000312397.5	+	14	1871	c.1779C>T	c.(1777-1779)aaC>aaT	p.N593N		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						GCTCAGCCAACGGTGGCTCCG	0.672																																						.											0													31	29	30					11																	65744159		2201	4296	6497	SO:0001819	synonymous_variant	9092			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.1779C>T	11.37:g.65744159C>T			A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	CCDS31611.1																																																																																				0.672	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			T	65744159	C	T	65744159	2	4	43	1	0	0	0	0	0	0	0	1	13846	535	19	1		1	SART1	11	65744159	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	23099	65744159	69262357	568	3745											
PACS1	55690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	65978707	65978707	+	Missense_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	tgggctataagaccttggccGtgggactcatcaacatggca	10	9	12	10	1	2	1	2	0	0	1	2	2	2	2	2	4	1	2	2	4	3	3	rs142653069	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65978707G>A	ENST00000320580.4	+	4	670	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	213				Missing (in Ref. 2; BAC04831). {ECO:0000305}.	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						GACCTTGGCCGTGGGACTCAT	0.527																																						.											0								G	MET/VAL	0,4402		0,0,2201	155	126	136		637	4.2	1	11	dbSNP_134	136	4,8586	3.7+/-12.6	0,4,4291	yes	missense	PACS1	NM_018026.2	21	0,4,6492	AA,AG,GG		0.0466,0.0,0.0308	benign	213/964	65978707	4,12988	2201	4295	6496	SO:0001583	missense	55690			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.637G>A	11.37:g.65978707G>A	ENSP00000316454:p.Val213Met		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656829	0.47467	0.0	4.66E-4	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.26810	1.71	5.09	4.16	0.48862	.	0.345518	0.30959	N	0.008532	T	0.27559	0.0677	M	0.78637	2.42	0.80722	D	1	B;B	0.32893	0.066;0.389	B;B	0.19148	0.007;0.024	T	0.16541	-1.0399	10	0.51188	T	0.08	-20.3959	12.9718	0.58517	0.0817:0.0:0.9183:0.0	.	213;213	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	M	213;115	ENSP00000316454:V213M	ENSP00000316454:V213M	V	+	1	0	PACS1	65735283	0.856000	0.29760	0.999000	0.59377	0.853000	0.48598	1.113000	0.31184	2.659000	0.90383	0.313000	0.20887	GTG		0.527	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		A	65978707	G	A	65978707	3	1	43	1	0	0	0	0	1	0	0	0	11372	1145	40	1	651	1	PACS1	11	65978707	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	234548	65978707	69027809	569	3746											
RAB1B	81876	broad.mit.edu;hgsc.bcm.edu	37	chr11	66039636	66039636	+	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	ctgaactttcaggatgacacGtacacagagagctacatcag	14	8	9	10	1	2	3	2	2	0	1	2	5	2	4	0	1	4	2	0	1	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:66039636G>A	ENST00000311481.6	+	3	243	c.96G>A	c.(94-96)acG>acA	p.T32T	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.T32T	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	32					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGGATGACACGTACACAGAGA	0.532																																						.											0													213	205	208					11																	66039636		2200	4295	6495	SO:0001819	synonymous_variant	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"RAB, member RAS oncogene"	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.96G>A	11.37:g.66039636G>A			A8K7S1	Silent	SNP	ENST00000311481.6	37	CCDS31613.1																																																																																				0.532	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		A	66039636	G	A	66039636	2	1	43	1	0	0	0	0	0	0	0	1	12906	1132	40	1		1	RAB1B	11	66039636	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	60929	66039636	68966880	570	3747											
RIN1	9610	broad.mit.edu;mdanderson.org	37	chr11	66101541	66101541	+	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	ggcaggctcaggtgggacccGaaggctccggggccctgggc	5	4	19	13	2	1	0	1	0	0	0	2	2	2	1	3	8	0	3	3	8	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:66101541G>A	ENST00000311320.4	-	7	1566	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	RIN1_ENST00000424433.2_Silent_p.F375F|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Intron	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	480	Ras and 14-3-3 protein binding region.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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						GGTGGGACCCGAAGGCTCCGG	0.731																																						.											0													7	7	7					11																	66101541		2115	4173	6288	SO:0001819	synonymous_variant	9610			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.1440C>T	11.37:g.66101541G>A			O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																				0.731	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		A	66101541	G	A	66101541	2	1	43	1	0	0	0	0	0	0	0	1	13371	1049	37	1		1	RIN1	11	66101541	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	61905	66101541	68904975	571	3748											
PITPNM1	9600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	67261522	67261522	+	Missense_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	acttgcccgacagcggctgcGtcatgatgtagacatccacc	9	8	10	14	3	1	2	1	1	0	1	2	3	2	2	3	1	3	2	3	1	1	2	rs371845321		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:67261522G>A	ENST00000534749.1	-	19	3067	c.2879C>T	c.(2878-2880)aCg>aTg	p.T960M	PITPNM1_ENST00000436757.2_Missense_Mutation_p.T959M|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000356404.3_Missense_Mutation_p.T960M			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	960					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						CAGCGGCTGCGTCATGATGTA	0.652																																					GBM(28;144 709 4607 5525)	.											0								G	MET/THR,MET/THR	0,4398		0,0,2199	41	44	43		2876,2879	4.2	1	11		43	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	PITPNM1	NM_001130848.1,NM_004910.2	81,81	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	959/1244,960/1245	67261522	1,12987	2199	4295	6494	SO:0001583	missense	9600			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.2879C>T	11.37:g.67261522G>A	ENSP00000437286:p.Thr960Met		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322959	0.81580	0.0	1.16E-4	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.49432	0.78;0.78;0.78	4.21	4.21	0.49690	.	0.000000	0.47852	D	0.000205	T	0.49201	0.1543	L	0.41492	1.28	0.58432	D	0.999999	P;D	0.60160	0.905;0.987	B;P	0.50754	0.305;0.649	T	0.52449	-0.8574	10	0.49607	T	0.09	-25.7326	15.5133	0.75802	0.0:0.0:1.0:0.0	.	959;960	O00562-2;O00562	.;PITM1_HUMAN	M	960;959;960	ENSP00000437286:T960M;ENSP00000398787:T959M;ENSP00000348772:T960M	ENSP00000348772:T960M	T	-	2	0	PITPNM1	67018098	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.624000	0.74243	2.071000	0.62044	0.305000	0.20034	ACG		0.652	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		A	67261522	G	A	67261522	3	1	43	1	0	0	0	0	1	0	0	0	11950	1145	40	1	875	1	PITPNM1	11	67261522	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1159981	67261522	67744994	572	3749											
SUV420H1	51111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	67925896	67925896	+	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	atcaaatctggtaccgcgtcGtcttttccaggagaatcgtg	9	12	10	10	4	3	1	1	0	2	1	6	2	4	1	2	2	1	1	2	2	3	3	rs149239650		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:67925896G>A	ENST00000304363.4	-	11	2270	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	639					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						GTACCGCGTCGTCTTTTCCAG	0.507													G|||	1	0.000199681	0	0.0014	5008	,	,		21360	0		0	False		,,,				2504	0					.											0								G		1,4399	2.1+/-5.4	0,1,2199	92	83	86		1917	-6.6	0	11	dbSNP_134	86	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous	SUV420H1	NM_017635.3		0,3,6491	AA,AG,GG		0.0233,0.0227,0.0231		639/886	67925896	3,12985	2200	4294	6494	SO:0001819	synonymous_variant	51111			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.1917C>T	11.37:g.67925896G>A			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	CCDS31623.1																																																																																				0.507	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		A	67925896	G	A	67925896	2	1	43	1	0	0	0	0	0	0	0	1	15411	1136	40	1		1	SUV420H1	11	67925896	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	664374	67925896	67080620	573	3750											
CPT1A	1374	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	68530138	68530138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcacgaagtcgcatgacTcagtggtgcaggagcgcacg	9	5	14	13	5	1	1	1	1	0	0	2	3	1	2	1	2	2	4	1	2	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:68530138T>C	ENST00000265641.5	-	15	1986	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	CPT1A_ENST00000539743.1_Missense_Mutation_p.E611G|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Missense_Mutation_p.E611G|CPT1A_ENST00000540367.1_Missense_Mutation_p.E611G	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	611					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)	GTCGCATGACTCAGTGGTGCA	0.597																																						.											0													78	68	71					11																	68530138		2200	4294	6494	SO:0001583	missense	1374			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.1832A>G	11.37:g.68530138T>C	ENSP00000265641:p.Glu611Gly		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912559	0.52439	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.57	5.57	0.84162	.	0.051436	0.85682	D	0.000000	D	0.95341	0.8488	H	0.97983	4.12	0.80722	D	1	B;B	0.29671	0.254;0.214	B;B	0.37346	0.247;0.238	D	0.95305	0.8407	10	0.87932	D	0	.	16.0252	0.80538	0.0:0.0:0.0:1.0	.	611;611	P50416;P50416-2	CPT1A_HUMAN;.	G	611	ENSP00000439084:E611G;ENSP00000365803:E611G;ENSP00000265641:E611G;ENSP00000446108:E611G	ENSP00000265641:E611G	E	-	2	0	CPT1A	68286714	1.000000	0.71417	0.997000	0.53966	0.041000	0.13682	7.562000	0.82300	2.246000	0.74042	0.533000	0.62120	GAG		0.597	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		C	68530138	T	C	68530138	3	2	43	1	0	0	0	0	1	0	0	0	3831	1551	54	2	549	2	CPT1A	11	68530138	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	604242	68530138	66476378	574	3751											
ARAP1	116985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	72404807	72404807	+	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	tggctgtccgtgcccagcccGtgcaggatgggcagcacctt	5	8	14	14	2	0	0	0	0	0	0	1	1	1	1	4	3	4	4	4	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:72404807G>A	ENST00000393609.3	-	28	3940	c.3738C>T	c.(3736-3738)caC>caT	p.H1246H	ARAP1_ENST00000359373.5_Silent_p.H1246H|ARAP1_ENST00000455638.2_Silent_p.H1246H|ARAP1_ENST00000426523.1_Silent_p.H1001H|ARAP1_ENST00000429686.1_Silent_p.H940H|ARAP1_ENST00000393605.3_Silent_p.H1006H|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.H1001H	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1246	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						TGCCCAGCCCGTGCAGGATGG	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)	.											0													53	39	44					11																	72404807		2200	4292	6492	SO:0001819	synonymous_variant	116985			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.3738C>T	11.37:g.72404807G>A			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																				0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		A	72404807	G	A	72404807	2	1	43	1	0	0	0	0	0	0	0	1	838	1136	40	1		1	ARAP1	11	72404807	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3874669	72404807	62601709	575	3752											
UCP2	7351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	73689005	73689005	+	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	cagaggcaaagctcatttggCgctgcaggccggcaaccagc	10	5	13	13	2	1	1	1	0	0	1	1	1	1	1	2	4	4	5	2	4	2	1	rs145061662		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:73689005C>T	ENST00000310473.3	-	4	1105	c.263G>A	c.(262-264)cGc>cAc	p.R88H	UCP2_ENST00000536983.1_Missense_Mutation_p.R88H|UCP2_ENST00000542615.1_5'Flank	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	88					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCTCATTTGGCGCTGCAGGCC	0.597																																					Colon(191;388 2040 43557 45622 48925)	.											0								C	HIS/ARG	0,4400		0,0,2200	70	69	69		263	5.2	1	11	dbSNP_134	69	2,8584	2.2+/-6.3	0,2,4291	yes	missense	UCP2	NM_003355.2	29	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	88/310	73689005	2,12984	2200	4293	6493	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.263G>A	11.37:g.73689005C>T	ENSP00000312029:p.Arg88His		Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035217	0.93575	0.0	2.33E-4	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	D;D;D	0.81659	-1.52;-1.52;-1.52	6.07	5.15	0.70609	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96356	0.9262	10	0.87932	D	0	-7.1629	16.1962	0.82025	0.0:0.8667:0.1333:0.0	.	88;88	F5GX45;P55851	.;UCP2_HUMAN	H	88;88;61	ENSP00000312029:R88H;ENSP00000441147:R88H;ENSP00000439951:R61H	ENSP00000312029:R88H	R	-	2	0	UCP2	73366653	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	1.562000	0.49601	0.655000	0.94253	CGC		0.597	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		T	73689005	C	T	73689005	3	4	43	1	0	0	0	0	1	0	0	0	16928	768	27	1	686	1	UCP2	11	73689005	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1284198	73689005	61317511	576	3753											
P4HA3	283208	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr11	73988139	73988139	+	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	ggcctgtgagggcagcaatgCggtggttgagggtcaccagt	7	8	18	8	1	1	2	1	2	0	0	1	2	1	2	2	5	2	3	2	5	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:73988139C>T	ENST00000331597.4	-	9	1271	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	P4HA3_ENST00000427714.2_Missense_Mutation_p.R409H	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	409						endoplasmic reticulum (GO:0005783)	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)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GGCAGCAATGCGGTGGTTGAG	0.522																																						.											0													194	148	163					11																	73988139		2200	4293	6493	SO:0001583	missense	283208			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1226G>A	11.37:g.73988139C>T	ENSP00000332170:p.Arg409His		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352642	0.82132	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.70869	0.98;-0.52	5.2	5.2	0.72013	Prolyl 4-hydroxylase, alpha subunit (1);	0.097922	0.64402	D	0.000002	D	0.85944	0.5815	M	0.88906	2.99	0.43693	D	0.996141	D;D	0.89917	1.0;0.995	D;P	0.68621	0.959;0.679	D	0.88404	0.3017	10	0.87932	D	0	-16.3221	16.28	0.82672	0.0:1.0:0.0:0.0	.	409;409	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	H	409	ENSP00000332170:R409H;ENSP00000401749:R409H	ENSP00000332170:R409H	R	-	2	0	P4HA3	73665787	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.902000	0.56310	2.691000	0.91804	0.655000	0.94253	CGC		0.522	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		T	73988139	C	T	73988139	3	4	43	1	0	0	0	0	1	0	0	0	11358	768	27	1	428	1	P4HA3	11	73988139	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	299134	73988139	61018377	577	3754											
ARRB1	408	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	74988453	74988453	+	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	cttgttggtgttgttggtgaCgtggacgttgacgctgatgg	4	15	17	5	3	0	3	0	3	0	0	0	4	0	4	0	4	0	5	0	4	0	5	rs370469526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:74988453C>T	ENST00000420843.2	-	9	755	c.658G>A	c.(658-660)Gtc>Atc	p.V220I	ARRB1_ENST00000360025.3_Missense_Mutation_p.V220I|ARRB1_ENST00000393505.4_Missense_Mutation_p.V220I	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	220					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TTGTTGGTGACGTGGACGTTG	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		19587	0		0	False		,,,				2504	0					.											0								C	ILE/VAL,ILE/VAL	0,4400		0,0,2200	333	267	290		658,658	5.1	1	11		290	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	ARRB1	NM_004041.4,NM_020251.3	29,29	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	220/419,220/411	74988453	1,12985	2200	4293	6493	SO:0001583	missense	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.658G>A	11.37:g.74988453C>T	ENSP00000409581:p.Val220Ile		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.98|10.98	1.504591|1.504591	0.26949|0.26949	0.0|0.0	1.16E-4|1.16E-4	ENSG00000137486|ENSG00000137486	ENST00000532447|ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	.|T;T;T;T	.|0.14516	.|2.5;2.5;2.5;2.5	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.07954|0.07954	0.0199|0.0199	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33266	.|0.029;0.404	.|B;B	.|0.26864	.|0.024;0.074	T|T	0.23583|0.23583	-1.0184|-1.0184	5|10	.|0.08837	.|T	.|0.75	-24.7659|-24.7659	16.0992|16.0992	0.81158|0.81158	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|220;220	.|P49407-2;P49407	.|.;ARRB1_HUMAN	H|I	44|220;220;220;215	.|ENSP00000409581:V220I;ENSP00000377141:V220I;ENSP00000353124:V220I;ENSP00000433171:V215I	.|ENSP00000353124:V220I	R|V	-|-	2|1	0|0	ARRB1|ARRB1	74666101|74666101	0.987000|0.987000	0.35691|0.35691	0.984000|0.984000	0.44739|0.44739	0.963000|0.963000	0.63663|0.63663	2.756000|2.756000	0.47549|0.47549	2.371000|2.371000	0.80710|0.80710	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.547	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		T	74988453	C	T	74988453	3	4	43	1	0	0	0	0	1	0	0	0	980	536	19	1	630	1	ARRB1	11	74988453	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1000314	74988453	60018063	578	3755											
TSKU	25987	broad.mit.edu;mdanderson.org	37	chr11	76506753	76506753	+	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	caatgcgaggtggagaccttCggccttttcgacagcttcag	8	10	12	11	3	1	1	1	0	0	1	3	4	1	1	2	3	2	1	2	3	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:76506753C>T	ENST00000527881.1	+	2	1119	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TSKU_ENST00000333090.4_Silent_p.F31F			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	31	LRRNT.				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)					TGGAGACCTTCGGCCTTTTCG	0.672																																						.											0													67	62	64					11																	76506753		2200	4292	6492	SO:0001819	synonymous_variant	25987			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.93C>T	11.37:g.76506753C>T			B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	ENST00000527881.1	37	CCDS8246.1																																																																																				0.672	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		T	76506753	C	T	76506753	2	4	43	1	0	0	0	0	0	0	0	1	16624	883	31	1		1	TSKU	11	76506753	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1518300	76506753	58499763	579	3756											
CHORDC1	26973	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	89935620	89935620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctgctttttagctgcagGcagttcaaggcttgcccact	6	14	9	12	0	1	0	1	0	0	0	2	0	2	0	2	2	4	6	2	2	2	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:89935620G>T	ENST00000320585.6	-	11	1361	c.952C>A	c.(952-954)Cct>Act	p.P318T	CHORDC1_ENST00000529726.1_Missense_Mutation_p.P130T|CHORDC1_ENST00000457199.2_Missense_Mutation_p.P299T|CHORDC1_ENST00000529987.1_Missense_Mutation_p.P130T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	318					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)				TTAGCTGCAGGCAGTTCAAGG	0.393																																						.											0													103	88	93					11																	89935620		2200	4298	6498	SO:0001583	missense	26973			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.952C>A	11.37:g.89935620G>T	ENSP00000319255:p.Pro318Thr		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486590	0.84854	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	T;T;T;T	0.43294	0.96;0.99;0.95;0.99	5.43	5.43	0.79202	HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.48007	-0.9072	9	.	.	.	-0.1676	17.486	0.87688	0.0:0.0:1.0:0.0	.	299;318	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	T	318;130;299;130	ENSP00000319255:P318T;ENSP00000433719:P130T;ENSP00000401080:P299T;ENSP00000436632:P130T	.	P	-	1	0	CHORDC1	89575268	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.594000	0.90836	2.539000	0.85634	0.650000	0.86243	CCT		0.393	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		T	89935620	G	T	89935620	3	4	43	1	0	0	0	0	1	0	0	0	3365	1203	42	5	50	5	CHORDC1	11	89935620	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13428867	89935620	45070896	580	3757											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	92086239	92086239	+	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	tggctaaggaaggaaagtggTtgaatgagtacaagattaag	16	9	14	2	0	0	3	0	2	0	1	0	5	0	5	0	4	1	3	0	4	7	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:92086239T>C	ENST00000298047.6	+	1	978	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	FAT3_ENST00000409404.2_Silent_p.L321L|FAT3_ENST00000541502.1_Silent_p.L321L|FAT3_ENST00000525166.1_Silent_p.L171L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	321	Cadherin 3. {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)				AGGAAAGTGGTTGAATGAGTA	0.448										TCGA Ovarian(4;0.039)																												.											0													76	71	72					11																	92086239		1954	4153	6107	SO:0001819	synonymous_variant	120114			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.961T>C	11.37:g.92086239T>C			B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92086239	T	C	92086239	2	2	43	1	0	0	0	0	0	0	0	1	5691	1722	60	2		2	FAT3	11	92086239	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	2150619	92086239	42920277	581	3758											
FAT3	120114	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	92577151	92577151	+	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	ctcacacttacatccgcgtgCgagtcattgaggaaagcacc	11	8	9	13	3	2	1	2	1	0	0	3	3	3	2	2	1	3	1	2	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:92577151C>T	ENST00000298047.6	+	18	10635	c.10618C>T	c.(10618-10620)Cga>Tga	p.R3540*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R3540*|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R3390*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3540	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)				CATCCGCGTGCGAGTCATTGA	0.468										TCGA Ovarian(4;0.039)																												.											0													169	166	167					11																	92577151		1940	4143	6083	SO:0001587	stop_gained	120114			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.10618C>T	11.37:g.92577151C>T	ENSP00000298047:p.Arg3540*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	51	18.536724	0.99906	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.62	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	15.3673	0.74531	0.6076:0.3924:0.0:0.0	.	.	.	.	X	3540;3540;3390	.	ENSP00000298047:R3540X	R	+	1	2	FAT3	92216799	0.944000	0.32072	0.995000	0.50966	0.339000	0.28857	0.871000	0.28023	0.278000	0.22164	0.561000	0.74099	CGA		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92577151	C	T	92577151	4	4	43	1	0	0	0	0	0	1	0	0	5691	760	27	1	10688	1	FAT3	11	92577151	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	490912	92577151	42429365	582	3759											
PIWIL4	143689	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	94353042	94353042	+	Missense_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	tgtggattcagaagcaacacGtaacgaatggcaagtgccgc	13	7	12	9	3	1	1	1	0	0	1	1	3	1	2	1	2	4	3	1	2	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:94353042G>A	ENST00000299001.6	+	18	2496	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	RP11-867G2.8_ENST00000536540.1_RNA|PIWIL4_ENST00000537419.1_Missense_Mutation_p.R113H|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	762	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)				GAAGCAACACGTAACGAATGG	0.428																																						.											0													122	107	112					11																	94353042		2201	4298	6499	SO:0001583	missense	143689			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.2285G>A	11.37:g.94353042G>A	ENSP00000299001:p.Arg762His		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213149	0.39102	.	.	ENSG00000134627	ENST00000299001;ENST00000537419	T;T	0.28666	1.6;1.6	5.13	3.25	0.37280	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.099888	0.39544	N	0.001325	T	0.43055	0.1230	L	0.52011	1.625	0.35257	D	0.779229	D	0.89917	1.0	D	0.87578	0.998	T	0.47661	-0.9100	10	0.13853	T	0.58	-6.5072	10.3432	0.43891	0.1625:0.0:0.8375:0.0	.	762	Q7Z3Z4	PIWL4_HUMAN	H	762;113	ENSP00000299001:R762H;ENSP00000439710:R113H	ENSP00000299001:R762H	R	+	2	0	PIWIL4	93992690	1.000000	0.71417	0.024000	0.17045	0.238000	0.25445	6.741000	0.74837	0.561000	0.29186	0.561000	0.74099	CGT		0.428	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		A	94353042	G	A	94353042	3	1	43	1	0	0	0	0	1	0	0	0	11960	1145	40	1	2355	1	PIWIL4	11	94353042	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1775891	94353042	40653474	583	3760											
BIRC3	330	broad.mit.edu	37	chr11	102201825	102201825	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaatgggctttagtagaAgcctggtaaaacagacagtt	14	10	12	5	0	0	2	0	0	0	2	0	3	0	3	1	3	2	4	1	3	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102201825A>G	ENST00000263464.3	+	6	3927	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G	BIRC3_ENST00000532808.1_Missense_Mutation_p.S393G	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	393					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|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)|spermatogenesis (GO:0007283)|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)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	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)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CTTTAGTAGAAGCCTGGTAAA	0.383			T	MALT1	MALT																																	.		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													101	103	103					11																	102201825		2203	4299	6502	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1177A>G	11.37:g.102201825A>G	ENSP00000263464:p.Ser393Gly		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	A	6.750	0.507284	0.12883	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.21932	1.98;1.98	5.19	2.78	0.32641	.	0.645884	0.18860	N	0.129165	T	0.24084	0.0583	M	0.74258	2.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31194	-0.9952	10	0.14252	T	0.57	.	13.8423	0.63446	0.5406:0.4594:0.0:0.0	.	393	Q13489	BIRC3_HUMAN	G	393	ENSP00000263464:S393G;ENSP00000432907:S393G	ENSP00000263464:S393G	S	+	1	0	BIRC3	101707035	0.928000	0.31464	0.067000	0.19924	0.634000	0.38068	2.135000	0.42112	0.398000	0.25338	0.402000	0.26972	AGC		0.383	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102201825	A	G	102201825	3	3	43	1	0	0	0	0	1	0	0	0	1436	72	3	2	1195	2	BIRC3	11	102201825	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	7848783	102201825	32804691	584	3761											
MMP1	4312	broad.mit.edu;bcgsc.ca	37	chr11	102667418	102667418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattgttggtccaccttTcatcttcatcaaaatgagca	12	14	6	9	0	4	2	3	2	1	0	5	2	5	2	2	1	1	2	2	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102667418T>C	ENST00000315274.6	-	4	669	c.602A>G	c.(601-603)gAa>gGa	p.E201G	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	201	Metalloprotease.				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)	GGTCCACCTTTCATCTTCATC	0.428																																						.											0													137	119	125					11																	102667418		2203	4299	6502	SO:0001583	missense	4312			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.602A>G	11.37:g.102667418T>C	ENSP00000322788:p.Glu201Gly		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	t	24.5	4.542761	0.85917	.	.	ENSG00000196611	ENST00000315274	T	0.32272	1.46	5.87	5.87	0.94306	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.083275	0.51477	D	0.000087	T	0.67804	0.2932	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77778	-0.2460	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	201	P03956	MMP1_HUMAN	G	201	ENSP00000322788:E201G	ENSP00000322788:E201G	E	-	2	0	MMP1	102172628	1.000000	0.71417	0.855000	0.33649	0.694000	0.40290	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAA		0.428	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		C	102667418	T	C	102667418	3	2	43	1	0	0	0	0	1	0	0	0	9648	1783	62	4	835	4	MMP1	11	102667418	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	465593	102667418	32339098	585	3762											
MMP12	4321	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	102738681	102738681	+	RNA	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	tatgtcatcagcagagaggcGaaatgtgttgatgtcaacat	13	11	11	6	1	3	2	3	1	0	1	3	4	3	2	0	1	2	2	0	1	3	2	rs183458117		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102738681G>A	ENST00000532855.1	-	0	840							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GCAGAGAGGCGAAATGTGTTG	0.418													G|||	1	0.000199681	0	0.0014	5008	,	,		21284	0		0	False		,,,				2504	0					.											0													81	79	80					11																	102738681		1918	4125	6043			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738681G>A			B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.418	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		A	102738681	G	A	102738681	1	1	43	0	1	0	0	0	0	0	0	0	9651	1049	37	1		1	MMP12	11	102738681	RNA	SNP	G	TCGA-KN-8428-01A-11D-2310-10	71263	102738681	32267835	586	3763											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	102987417	102987417	+	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	tgatcattatcctgagtcacGaatgttgcatctcttagaca	11	14	7	9	1	3	3	2	2	1	1	5	4	4	3	1	0	1	2	1	0	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102987417G>A	ENST00000375735.2	+	5	884	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R247Q|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R247Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	247	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)		CCTGAGTCACGAATGTTGCAT	0.348																																						.											0													202	193	196					11																	102987417		1880	4111	5991	SO:0001583	missense	79659			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.740G>A	11.37:g.102987417G>A	ENSP00000364887:p.Arg247Gln		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476600	0.96291	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.70399	-0.48;-0.48;-0.48	5.49	5.49	0.81192	Dynein heavy chain, domain-1 (1);	0.636430	0.11876	U	0.521016	D	0.86125	0.5858	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;0.98;0.997	D;P;P	0.83275	0.996;0.832;0.868	D	0.85384	0.1121	10	0.87932	D	0	.	19.3705	0.94481	0.0:0.0:1.0:0.0	.	247;247;247	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Q	247	ENSP00000364887:R247Q;ENSP00000334021:R247Q;ENSP00000381167:R247Q	ENSP00000334021:R247Q	R	+	2	0	DYNC2H1	102492627	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	9.476000	0.97823	2.567000	0.86603	0.650000	0.86243	CGA		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		A	102987417	G	A	102987417	3	1	43	1	0	0	0	0	1	0	0	0	4846	1058	37	1	758	1	DYNC2H1	11	102987417	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	248736	102987417	32019099	587	3764											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	108201014	108201014	+	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	cactgaaagaggatcgtaaaCgcttcttatgtaaagcagtt	14	11	9	7	2	1	2	0	1	1	1	2	3	1	3	0	1	2	5	0	1	6	5	rs201314561		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:108201014C>T	ENST00000452508.2	+	51	7570	c.7381C>T	c.(7381-7383)Cgc>Tgc	p.R2461C	ATM_ENST00000278616.4_Missense_Mutation_p.R2461C|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2461	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGATCGTAAACGCTTCTTATG	0.388			"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)			C|||	1	0.000199681	8e-04	0	5008	,	,		20856	0		0	False		,,,				2504	0					.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								C	CYS/ARG	3,4399	6.2+/-15.9	0,3,2198	127	130	129		7381	4.7	1	11		129	0,8596		0,0,4298	no	missense	ATM	NM_000051.3	180	0,3,6496	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging	2461/3057	108201014	3,12995	2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	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.7381C>T	11.37:g.108201014C>T	ENSP00000388058:p.Arg2461Cys		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701750	0.88924	6.82E-4	0.0	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83591	-1.74;-1.74	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90150	0.6922	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91062	0.4886	10	0.59425	D	0.04	.	16.9756	0.86312	0.0:1.0:0.0:0.0	.	2461	Q13315	ATM_HUMAN	C	2461	ENSP00000278616:R2461C;ENSP00000388058:R2461C	ENSP00000278616:R2461C	R	+	1	0	ATM	107706224	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.480000	0.60243	2.293000	0.77203	0.561000	0.74099	CGC		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108201014	C	T	108201014	3	4	43	1	0	0	0	0	1	0	0	0	1109	536	19	1	7575	1	ATM	11	108201014	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5213597	108201014	26805502	588	3765											
PIH1D2	120379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	111938616	111938616	+	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	cacaccaaaggcattgtgatGattagcgtggatttttcttt	10	15	9	7	1	1	2	0	2	1	0	1	3	1	3	1	2	1	1	1	2	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:111938616G>A	ENST00000280350.4	-	6	1149	c.927C>T	c.(925-927)atC>atT	p.I309I	PIH1D2_ENST00000528775.1_Intron|PIH1D2_ENST00000532211.1_Silent_p.I309I|PIH1D2_ENST00000431456.1_Intron	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	309										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GCATTGTGATGATTAGCGTGG	0.343																																						.											0													174	164	167					11																	111938616		2201	4296	6497	SO:0001819	synonymous_variant	120379			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.927C>T	11.37:g.111938616G>A			B4DU48|E9PD82	Silent	SNP	ENST00000280350.4	37	CCDS8355.1																																																																																				0.343	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		A	111938616	G	A	111938616	2	1	43	1	0	0	0	0	0	0	0	1	11907	1280	45	4		4	PIH1D2	11	111938616	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3737602	111938616	23067900	589	3766											
TTC12	54970	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	113187003	113187003	+	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	gatgctgataaagagaaagaTttgcagaaatttcttaaaaa	19	11	8	3	0	1	4	0	1	1	3	1	6	1	4	0	0	2	2	0	0	7	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:113187003T>A	ENST00000529221.1	+	2	129	c.24T>A	c.(22-24)gaT>gaA	p.D8E	TTC12_ENST00000483239.2_Missense_Mutation_p.D8E|RP11-839D17.3_ENST00000533504.1_RNA|TTC12_ENST00000393020.1_Missense_Mutation_p.D8E|TTC12_ENST00000314756.3_Missense_Mutation_p.D8E|RP11-839D17.3_ENST00000526487.1_RNA	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	8										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)		AAGAGAAAGATTTGCAGAAAT	0.333																																						.											0													44	48	47					11																	113187003		2201	4295	6496	SO:0001583	missense	54970			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.24T>A	11.37:g.113187003T>A	ENSP00000433757:p.Asp8Glu		Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.16|13.16	2.154401|2.154401	0.38021|0.38021	.|.	.|.	ENSG00000149292|ENSG00000149292	ENST00000529221;ENST00000429951;ENST00000442859;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239|ENST00000524580	T;T;T;T;T;T;T;T;T|.	0.56275|.	2.56;0.47;1.65;1.05;2.51;1.03;2.49;1.65;2.57|.	4.87|4.87	-0.324|-0.324	0.12706|0.12706	.|.	0.911967|.	0.09570|.	N|.	0.784259|.	T|T	0.50990|0.50990	0.1648|0.1648	M|M	0.64997|0.64997	1.995|1.995	0.29800|0.29800	N|N	0.832486|0.832486	P;P|.	0.46706|.	0.883;0.883|.	B;B|.	0.43301|.	0.415;0.415|.	T|T	0.55075|0.55075	-0.8197|-0.8197	10|6	0.34782|0.87932	T|D	0.22|0	-26.8681|-26.8681	8.7028|8.7028	0.34336|0.34336	0.0:0.4798:0.0:0.5202|0.0:0.4798:0.0:0.5202	.|.	8;8|.	A8K8G6;Q9H892|.	.;TTC12_HUMAN|.	E|N	8|7	ENSP00000433757:D8E;ENSP00000413335:D8E;ENSP00000400039:D8E;ENSP00000431806:D8E;ENSP00000315160:D8E;ENSP00000435308:D8E;ENSP00000376743:D8E;ENSP00000402004:D8E;ENSP00000419652:D8E|.	ENSP00000315160:D8E|ENSP00000436677:I7N	D|I	+|+	3|2	2|0	TTC12|TTC12	112692213|112692213	0.987000|0.987000	0.35691|0.35691	0.990000|0.990000	0.47175|0.47175	0.748000|0.748000	0.42578|0.42578	-0.111000|-0.111000	0.10807|0.10807	-0.230000|-0.230000	0.09840|0.09840	0.460000|0.460000	0.39030|0.39030	GAT|ATT		0.333	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		A	113187003	T	A	113187003	3	1	43	1	0	0	0	0	1	0	0	0	16676	1490	52	5	26	5	TTC12	11	113187003	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1248387	113187003	21819513	590	3767											
C11orf71	54494	broad.mit.edu	37	chr11	114262382	114262382	+	Missense_Mutation	SNP	T	T	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	agatagcttcagggtccaggTagtaactaaaatacacaaaa	18	8	8	7	0	1	1	1	0	0	1	2	1	2	1	1	2	3	3	1	2	8	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:114262382T>C	ENST00000325636.4	-	2	434	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_019021.3	NP_061894.2	Q6IPW1	CK071_HUMAN	chromosome 11 open reading frame 71	0										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		agggtccaggtagtaactaaa	0.358																																						.											0													68	64	65					11																	114262382		692	1591	2283	SO:0001583	missense	54494			BC071695	CCDS8369.2	11q23.2	2012-08-09			ENSG00000180425	ENSG00000180425			25937	protein-coding gene	gene with protein product						12477932	Standard	NM_001271562		Approved	FLJ20010	uc001pot.2	Q6IPW1	OTTHUMG00000168247	ENST00000325636.4:c.349A>G	11.37:g.114262382T>C	ENSP00000325508:p.Thr117Ala		Q6IAD3|Q9NXX1	Missense_Mutation	SNP	ENST00000325636.4	37	CCDS8369.2	.	.	.	.	.	.	.	.	.	.	T	8.947	0.967299	0.18659	.	.	ENSG00000180425	ENST00000325636	.	.	.	1.61	-1.44	0.08856	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19386	-1.0307	7	0.45353	T	0.12	0.035	4.8719	0.13637	0.0:0.6068:0.0:0.3932	.	117	Q6IPW1-2	.	A	117	.	ENSP00000325508:T117A	T	-	1	0	C11orf71	113767592	0.016000	0.18221	0.027000	0.17364	0.105000	0.19272	0.071000	0.14594	-0.306000	0.08818	0.372000	0.22366	ACC		0.358	C11orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398959.1	NM_019021		C	114262382	T	C	114262382	3	2	43	1	0	0	0	0	1	0	0	0	1660	1638	57	2	98	2	C11orf71	11	114262382	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1075379	114262382	20744134	591	3768											
CEP164	22897	broad.mit.edu	37	chr11	117262985	117262985	+	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	gcacagtgctgagctggagcGgctctgctcctcattggagg	6	9	15	11	1	2	1	1	1	1	0	3	3	3	3	1	4	4	5	1	4	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:117262985G>A	ENST00000278935.3	+	18	2474	c.2327G>A	c.(2326-2328)cGg>cAg	p.R776Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	776	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)		GAGCTGGAGCGGCTCTGCTCC	0.597																																						.											0													51	47	48					11																	117262985		2201	4296	6497	SO:0001583	missense	22897			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.2327G>A	11.37:g.117262985G>A	ENSP00000278935:p.Arg776Gln		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	9.955	1.221185	0.22457	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.41400	1.0	4.56	-2.63	0.06133	.	0.705996	0.12139	N	0.496071	T	0.19406	0.0466	N	0.12746	0.255	0.20074	N	0.999936	B;B;B;B	0.27117	0.047;0.168;0.078;0.078	B;B;B;B	0.20384	0.013;0.029;0.016;0.016	T	0.14559	-1.0468	10	0.27082	T	0.32	-4.898	7.9665	0.30102	0.6098:0.1213:0.2689:0.0	.	750;550;776;779	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	Q	776;750;657	ENSP00000278935:R776Q	ENSP00000278935:R776Q	R	+	2	0	CEP164	116768195	0.023000	0.18921	0.071000	0.20095	0.417000	0.31264	-0.959000	0.03853	-0.842000	0.04195	-0.339000	0.08088	CGG		0.597	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		A	117262985	G	A	117262985	3	1	43	1	0	0	0	0	1	0	0	0	3249	1116	39	1	2389	1	CEP164	11	117262985	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3000603	117262985	17743531	592	3769											
MFRP	83552	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	119212383	119212383	+	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	cgcttcctggcagacagagcGgcaagggggcagaacactgc	10	4	15	12	2	0	3	0	0	0	3	1	3	1	3	1	4	3	4	1	4	2	1	rs374823079		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:119212383G>A	ENST00000530681.1	-	13	1759	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	MFRP_ENST00000555262.1_Missense_Mutation_p.R539C|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Missense_Mutation_p.R539C|MFRP_ENST00000360167.4_Missense_Mutation_p.R421C|C1QTNF5_ENST00000525657.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	539	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CAGACAGAGCGGCAAGGGGGC	0.647																																						.											0								G	CYS/ARG,	0,4398		0,0,2199	31	37	35		1615,	4	1	11		35	1,8589	1.2+/-3.3	0,1,4294	no	missense,utr-5	MFRP,C1QTNF5	NM_031433.2,NM_015645.3	180,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	539/580,	119212383	1,12987	2199	4295	6494	SO:0001583	missense	83552			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1615C>T	11.37:g.119212383G>A	ENSP00000456533:p.Arg539Cys		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106910	0.77096	0.0	1.16E-4	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.61510	0.1;0.1;0.1	4.89	3.95	0.45737	Frizzled domain (4);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.93150	3.385	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	P;D	0.85130	0.887;0.997	D	0.84126	0.0409	10	0.54805	T	0.06	-22.1657	12.8114	0.57641	0.0:0.0:0.7042:0.2958	.	421;539	B4DHN8;Q9BY79	.;MFRP_HUMAN	C	539;539;421	ENSP00000450509:R539C;ENSP00000391664:R539C;ENSP00000353291:R421C	ENSP00000353291:R421C	R	-	1	0	MFRP	118717593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.980000	0.63812	1.000000	0.39049	0.561000	0.74099	CGC		0.647	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		A	119212383	G	A	119212383	3	1	43	1	0	0	0	0	1	0	0	0	9526	1116	39	1	128	1	MFRP	11	119212383	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1949398	119212383	15794133	593	3770											
SRPR	6734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	126135007	126135007	+	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	ctgctccacggccccagcacGaaatgtatcacaggcagcaa	12	5	9	15	2	1	0	1	0	0	0	2	1	2	0	3	2	3	5	3	2	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:126135007G>A	ENST00000332118.6	-	11	1526	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	SRPR_ENST00000532259.1_Missense_Mutation_p.R430C|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	458					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)		GCCCCAGCACGAAATGTATCA	0.517																																						.											0													57	54	55					11																	126135007		2201	4299	6500	SO:0001583	missense	6734			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.1372C>T	11.37:g.126135007G>A	ENSP00000328023:p.Arg458Cys		A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231973	0.95207	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	H	0.99415	4.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95098	0.8228	9	0.87932	D	0	-8.6525	19.0619	0.93096	0.0:0.0:1.0:0.0	.	430;458	E9PJS4;P08240	.;SRPR_HUMAN	C	458;430	.	ENSP00000328023:R458C	R	-	1	0	SRPR	125640217	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.345000	0.97053	2.744000	0.94065	0.650000	0.86243	CGT		0.517	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		A	126135007	G	A	126135007	3	1	43	1	0	0	0	0	1	0	0	0	15161	1058	37	1	560	1	SRPR	11	126135007	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6922624	126135007	8871509	594	3771											
KCNJ1	3758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	128709264	128709264	+	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	cctctgggacataggatgtcCggacttggcaggtagcactg	8	9	14	10	1	1	0	0	0	1	0	2	3	2	3	2	5	1	3	2	5	2	3	rs373198476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:128709264C>T	ENST00000392664.2	-	2	1048	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	KCNJ1_ENST00000392665.2_Missense_Mutation_p.R292Q|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R292Q|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R292Q|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R292Q	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	311					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATAGGATGTCCGGACTTGGCA	0.498													C|||	1	0.000199681	0	0.0014	5008	,	,		20427	0		0	False		,,,				2504	0					.											0			GRCh37	CM994546	KCNJ1	M		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	73	69	70		932,875,875,875,875	5.6	1	11		70	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense	KCNJ1	NM_000220.2,NM_153764.1,NM_153765.1,NM_153766.1,NM_153767.2	43,43,43,43,43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	311/392,292/373,292/373,292/373,292/373	128709264	1,12995	2201	4297	6498	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.932G>A	11.37:g.128709264C>T	ENSP00000376432:p.Arg311Gln		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192115	0.94923	0.0	1.16E-4	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	5.63	5.63	0.86233	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	0.98055	0.9359	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98703	1.0701	10	0.87932	D	0	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	311	P48048	IRK1_HUMAN	Q	292;292;292;292;311	ENSP00000376433:R292Q;ENSP00000376434:R292Q;ENSP00000406320:R292Q;ENSP00000316233:R292Q;ENSP00000376432:R311Q	ENSP00000316233:R292Q	R	-	2	0	KCNJ1	128214474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	CGG		0.498	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		T	128709264	C	T	128709264	3	4	43	1	0	0	0	0	1	0	0	0	8043	652	23	1	247	1	KCNJ1	11	128709264	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2574257	128709264	6297252	595	3772											
KCNJ5	3762	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	128781258	128781258	+	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	aagattccaaaacaggcccgCgattatgtccccattgccac	12	8	7	14	2	0	1	0	0	0	1	2	2	2	1	5	1	2	0	5	1	4	3	rs201886526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:128781258C>T	ENST00000338350.4	+	3	442	c.90C>T	c.(88-90)cgC>cgT	p.R30R	KCNJ5_ENST00000529694.1_Silent_p.R30R|KCNJ5_ENST00000533599.1_Silent_p.R30R			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	30					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)	AACAGGCCCGCGATTATGTCC	0.582													C|||	1	0.000199681	0	0	5008	,	,		19312	0		0	False		,,,				2504	0.001				Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	.											0													78	80	80					11																	128781258		2201	4297	6498	SO:0001819	synonymous_variant	3762			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.90C>T	11.37:g.128781258C>T			B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	CCDS8479.1																																																																																				0.582	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		T	128781258	C	T	128781258	2	4	43	1	0	0	0	0	0	0	0	1	8054	755	27	1		1	KCNJ5	11	128781258	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	71994	128781258	6225258	596	3773											
IGSF9B	22997	broad.mit.edu;mdanderson.org	37	chr11	133800913	133800913	+	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	tgggtgctggcagtgatgctCgtgaccacgttggtggcgac	5	10	17	9	3	0	2	0	2	0	0	1	3	0	2	1	4	2	4	1	4	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:133800913C>T	ENST00000321016.8	-	11	1715	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	IGSF9B_ENST00000533871.2_Silent_p.T495T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	495	Ig-like 5.				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)		CAGTGATGCTCGTGACCACGT	0.682																																						.											0													66	75	72					11																	133800913		2199	4294	6493	SO:0001819	synonymous_variant	22997			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.1485G>A	11.37:g.133800913C>T			G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133800913	C	T	133800913	2	4	43	1	0	0	0	0	0	0	0	1	7606	871	31	1		1	IGSF9B	11	133800913	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5019655	133800913	1205603	597	3774											
JAM3	83700	broad.mit.edu;hgsc.bcm.edu	37	chr11	134009776	134009777	+	Nonsense_Mutation	DNP	CC	CC	AA																															aggggctgtaaatctcaaatCcagcaatcgaaccccagtgg																								rs143947882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134009776_134009777CC>AA	ENST00000299106.4	+	2	266_267	c.107_108CC>AA	c.(106-108)tCC>tAA	p.S36*	JAM3_ENST00000441717.3_Nonsense_Mutation_p.S36*|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Nonsense_Mutation_p.S81*			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	36	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AATCTCAAATCCAGCAATCGAA	0.441											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001587	stop_gained	83700			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	Exception_encountered	11.37:g.134009776_134009777delinsAA	ENSP00000299106:p.Ser36*	1607	B3KWG9|Q8WWL8|Q96FL1	Silent	DNP	ENST00000299106.4	37	CCDS8494.2																																																																																				0.441	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		AA	134009777	CC	AA	134009776	4	1	43	1	0	0	0	0	0	1	0	0	7944	855	30	5	248	5	JAM3	11	134009776	Nonsense_Mutation	DNP	CC	TCGA-KN-8428-01A-11D-2310-10	208863	134009776	996740	598	3775											
NCAPD3	23310	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	134027834	134027834	+	Missense_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	aaggcttaccctgactgcacGttttttctgggcttccagaa	8	13	9	11	1	1	2	0	1	1	1	2	2	2	2	2	2	2	4	2	2	3	5	rs116394634	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134027834G>A	ENST00000534548.2	-	31	4227	c.4163C>T	c.(4162-4164)aCg>aTg	p.T1388M		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1388					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)		CTGACTGCACGTTTTTTCTGG	0.453													G|||	21	0.00419329	0.0144	0.0014	5008	,	,		19869	0		0.001	False		,,,				2504	0					.											0								G	MET/THR	48,4354	49.6+/-84.7	1,46,2154	214	220	218		4163	-5.2	0	11	dbSNP_132	218	1,8593	1.2+/-3.3	0,1,4296	yes	missense	NCAPD3	NM_015261.2	81	1,47,6450	AA,AG,GG		0.0116,1.0904,0.377	benign	1388/1499	134027834	49,12947	2201	4297	6498	SO:0001583	missense	23310			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.4163C>T	11.37:g.134027834G>A	ENSP00000433681:p.Thr1388Met		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	8.614	0.889716	0.17540	0.010904	1.16E-4	ENSG00000151503	ENST00000534548	T	0.30448	1.53	3.99	-5.24	0.02789	.	1.841410	0.02497	N	0.090091	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B;B	0.20368	0.032;0.044	B;B	0.13407	0.009;0.004	T	0.12837	-1.0532	10	0.52906	T	0.07	0.2656	1.8603	0.03187	0.2792:0.3818:0.2094:0.1296	.	1388;448	P42695;Q96FA6	CNDD3_HUMAN;.	M	1388	ENSP00000433681:T1388M	ENSP00000433681:T1388M	T	-	2	0	NCAPD3	133533044	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.108000	0.15396	-1.094000	0.03054	0.561000	0.74099	ACG		0.453	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		A	134027834	G	A	134027834	3	1	43	1	0	0	0	0	1	0	0	0	10206	1145	40	1	353	1	NCAPD3	11	134027834	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	18058	134027834	978682	599	3776											
KCNA1	3736	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	5020791	5020791	+	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	tgaggaacgagtacttcttcGaccgcaaccggcccagcttc	9	8	10	14	4	1	1	0	1	1	0	3	4	1	2	3	2	4	3	3	2	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:5020791G>T	ENST00000382545.3	+	2	1354	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GTACTTCTTCGACCGCAACCG	0.632																																						.											0													65	66	66					12																	5020791		2203	4300	6503	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.247G>T	12.37:g.5020791G>T	ENSP00000371985:p.Asp83Tyr		A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528424	0.64860	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.85773	-2.03	4.34	3.44	0.39384	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96686	0.9507	10	0.87932	D	0	.	13.0486	0.58942	0.0:0.0:0.8379:0.1621	.	83	Q09470	KCNA1_HUMAN	Y	83	ENSP00000371985:D83Y	ENSP00000228858:D83Y	D	+	1	0	KCNA1	4891052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.699000	0.84547	1.152000	0.42452	0.650000	0.86243	GAC		0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		T	5020791	G	T	5020791	3	4	43	1	0	0	0	0	1	0	0	0	8001	1058	37	5	249	5	KCNA1	12	5020791	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		5020791	128831104	600	3777											
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	6078503	6078503	+	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	aaagacctcctccttcactcGgacacactcattgatgaggc	11	9	7	14	1	2	3	2	2	0	1	5	4	4	4	3	2	0	0	3	2	1	2	rs61751296		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6078503G>A	ENST00000261405.5	-	45	7857	c.7603C>T	c.(7603-7605)Cga>Tga	p.R2535*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2535					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)	TCCTTCACTCGGACACACTCA	0.607																																						.											0			GRCh37	CM910408	VWF	M	rs61751296	G	stop/ARG	0,4406		0,0,2203	59	59	59	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7603	4	1	12	dbSNP_129	59	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	VWF	NM_000552.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2535/2814	6078503	1,13005	2203	4300	6503	SO:0001587	stop_gained	7450				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.7603C>T	12.37:g.6078503G>A	ENSP00000261405:p.Arg2535*		Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	50	16.762652	0.99871	0.0	1.16E-4	ENSG00000110799	ENST00000261405	.	.	.	4.87	3.96	0.45880	.	0.217378	0.23358	N	0.049054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1546	0.54070	0.0:0.0:0.8279:0.1721	rs61751296	.	.	.	X	2535	.	ENSP00000261405:R2535X	R	-	1	2	VWF	5948764	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.597000	0.46214	1.234000	0.43709	0.561000	0.74099	CGA		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6078503	G	A	6078503	4	1	43	1	0	0	0	0	0	1	0	0	17243	1124	39	1	870	1	VWF	12	6078503	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1057712	6078503	127773392	601	3778											
PLEKHG6	55200	broad.mit.edu;bcgsc.ca	37	chr12	6435610	6435610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccgccctacagaagcTgaaggcagaggagtatgttc	11	6	13	11	1	0	3	0	1	0	2	1	4	0	4	3	3	2	4	3	3	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6435610T>C	ENST00000396988.3	+	14	1771	c.1541T>C	c.(1540-1542)cTg>cCg	p.L514P	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L514P|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.L482P|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.L44P	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	514						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						CTACAGAAGCTGAAGGCAGAG	0.557																																						.											0													54	53	54					12																	6435610		2203	4300	6503	SO:0001583	missense	55200			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.1541T>C	12.37:g.6435610T>C	ENSP00000380185:p.Leu514Pro		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840501	0.71488	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.69306	-0.26;-0.26;-0.39	5.21	5.21	0.72293	Pleckstrin homology-type (1);	0.000000	0.40064	N	0.001191	T	0.70552	0.3237	L	0.36672	1.1	0.53688	D	0.999976	D;D	0.61697	0.99;0.984	P;P	0.61201	0.885;0.819	T	0.73626	-0.3923	10	0.87932	D	0	-12.4017	11.4464	0.50125	0.0:0.0:0.0:1.0	.	482;514	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	P	514;514;482;44	ENSP00000011684:L514P;ENSP00000380185:L514P;ENSP00000393194:L482P	ENSP00000011684:L514P	L	+	2	0	PLEKHG6	6305871	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.432000	0.52824	2.195000	0.70347	0.529000	0.55759	CTG		0.557	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		C	6435610	T	C	6435610	3	2	43	1	0	0	0	0	1	0	0	0	12074	1580	55	2	1637	2	PLEKHG6	12	6435610	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	357107	6435610	127416285	602	3779											
SCNN1A	6337	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	6471284	6471284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcgtgtcctcctccaGggatggcagagtctctggca	6	8	13	14	1	1	1	0	0	1	1	5	2	4	2	4	3	1	2	4	3	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6471284G>T	ENST00000228916.2	-	4	906	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	SCNN1A_ENST00000360168.3_Missense_Mutation_p.L329M|SCNN1A_ENST00000396966.2_Missense_Mutation_p.L270M|SCNN1A_ENST00000540037.1_De_novo_Start_OutOfFrame|SCNN1A_ENST00000358945.3_Missense_Mutation_p.L270M|SCNN1A_ENST00000543768.1_Missense_Mutation_p.L293M|SCNN1A_ENST00000538979.1_Intron	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	270					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)	TCCTCCTCCAGGGATGGCAGA	0.592																																						.											0													126	104	112					12																	6471284		2203	4300	6503	SO:0001583	missense	6337			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.808C>A	12.37:g.6471284G>T	ENSP00000228916:p.Leu270Met		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353258	0.24512	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.70631	-0.45;-0.5;-0.43;-0.1;-0.43	5.05	3.19	0.36642	.	0.949950	0.08696	N	0.907143	T	0.79435	0.4445	M	0.70595	2.14	0.09310	N	1	D;D;P	0.56968	0.978;0.96;0.757	P;P;P	0.61003	0.878;0.882;0.511	T	0.61753	-0.6998	10	0.45353	T	0.12	-6.8226	6.8831	0.24185	0.0961:0.1769:0.727:0.0	.	293;270;329	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	329;270;270;270;293	ENSP00000353292:L329M;ENSP00000351825:L270M;ENSP00000228916:L270M;ENSP00000380166:L270M;ENSP00000438739:L293M	ENSP00000228916:L270M	L	-	1	2	SCNN1A	6341545	0.298000	0.24417	0.000000	0.03702	0.215000	0.24574	1.623000	0.37008	0.500000	0.27991	0.561000	0.74099	CTG		0.592	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			T	6471284	G	T	6471284	3	4	43	1	0	0	0	0	1	0	0	0	13927	991	35	5	1241	5	SCNN1A	12	6471284	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	35674	6471284	127380611	603	3780											
IFFO1	25900	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	6657689	6657689	+	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	ccaagtcaggctgtcacagtCgtcctcaaaatcatactccc	11	9	6	15	1	4	0	4	0	0	0	7	0	6	0	3	1	1	1	3	1	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6657689C>T	ENST00000396840.2	-	6	1293	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	IFFO1_ENST00000436152.2_Missense_Mutation_p.D114N|IFFO1_ENST00000336604.4_Missense_Mutation_p.D421N|IFFO1_ENST00000465801.1_Missense_Mutation_p.D114N|IFFO1_ENST00000356896.4_Missense_Mutation_p.D421N			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	418						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGTCACAGTCGTCCTCAAAA	0.642																																						.											0													65	65	65					12																	6657689		2203	4300	6503	SO:0001583	missense	25900			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.1252G>A	12.37:g.6657689C>T	ENSP00000380052:p.Asp418Asn		Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.373339	0.82573	.	.	ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	D;D;D;D;D	0.95069	-3.6;-3.31;-3.13;-3.13;-3.18	4.55	3.65	0.41850	.	0.057967	0.64402	D	0.000003	D	0.96565	0.8879	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.89917	0.984;1.0;0.984;0.984;0.984;1.0	P;D;P;P;P;D	0.91635	0.593;0.999;0.593;0.593;0.593;0.999	D	0.96579	0.9429	10	0.87932	D	0	-21.9407	13.8215	0.63322	0.1544:0.8456:0.0:0.0	.	420;113;421;418;421;122	Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.;.;.;IFFO1_HUMAN;.;.	N	114;114;421;418;421;58	ENSP00000390721:D114N;ENSP00000436261:D114N;ENSP00000337593:D421N;ENSP00000380052:D418N;ENSP00000349364:D421N	ENSP00000337593:D421N	D	-	1	0	IFFO1	6527950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.681000	0.84073	0.878000	0.35920	-0.182000	0.12963	GAC		0.642	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		T	6657689	C	T	6657689	3	4	43	1	0	0	0	0	1	0	0	0	7510	884	31	1	446	1	IFFO1	12	6657689	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	186405	6657689	127194206	604	3781											
LPCAT3	10162	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	7088722	7088722	+	Missense_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	gaaaaggcccagactcaggcGcttgagagcaggaatgatgc	13	5	14	9	1	1	3	1	2	0	2	1	6	1	4	1	3	2	2	1	3	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:7088722G>A	ENST00000261407.4	-	7	782	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	233					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						AGACTCAGGCGCTTGAGAGCA	0.512																																						.											0													104	86	92					12																	7088722		2203	4300	6503	SO:0001583	missense	10162			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	ENST00000261407.4:c.697C>T	12.37:g.7088722G>A	ENSP00000261407:p.Arg233Cys		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638586	0.87760	.	.	ENSG00000111684	ENST00000261407	T	0.73897	-0.79	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87116	0.2188	10	0.62326	D	0.03	-14.3872	19.7096	0.96089	0.0:0.0:1.0:0.0	.	233	Q6P1A2	MBOA5_HUMAN	C	233	ENSP00000261407:R233C	ENSP00000261407:R233C	R	-	1	0	LPCAT3	6958983	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.678000	0.68153	2.652000	0.90054	0.655000	0.94253	CGC		0.512	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		A	7088722	G	A	7088722	3	1	43	1	0	0	0	0	1	0	0	0	8912	1087	38	1	790	1	LPCAT3	12	7088722	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	431033	7088722	126763173	605	3782											
C1R	715	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	7188165	7188165	+	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	aatcttctcctccatgacccCgaagccactgacatagccca	11	8	5	17	1	2	2	0	2	2	0	4	3	3	2	6	0	2	0	6	0	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:7188165C>T	ENST00000542285.1	-	11	1782	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R				P00736	C1R_HUMAN	complement component 1, r subcomponent	597	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)	TCCATGACCCCGAAGCCACTG	0.552																																						.											0													49	50	49					12																	7188165		2064	4200	6264	SO:0001583	missense	715			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.1633G>A	12.37:g.7188165C>T	ENSP00000438615:p.Gly545Arg		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.438853	0.83885	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.94000	-3.33	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.97071	0.9043	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.97261	0.9904	9	0.87932	D	0	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	597	P00736	C1R_HUMAN	R	560;545	ENSP00000438615:G545R	ENSP00000290575:G560R	G	-	1	0	C1R	7058420	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.510000	0.67018	2.681000	0.91329	0.655000	0.94253	GGG		0.552	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		T	7188165	C	T	7188165	3	4	43	1	0	0	0	0	1	0	0	0	1972	652	23	1	332	1	C1R	12	7188165	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	99443	7188165	126663730	606	3783											
SLC2A3	6515	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr12	8083895	8083895	+	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	tggttgagagtgccaaaggcAccccgcagggcagtaggcga	10	5	16	10	2	0	1	0	1	0	1	0	3	0	1	3	4	1	5	3	4	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8083895A>T	ENST00000075120.7	-	4	696	c.456T>A	c.(454-456)ggT>ggA	p.G152G		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	152					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)		TGCCAAAGGCACCCCGCAGGG	0.522																																					Colon(96;424 1461 14416 20933 23688)	.											0													80	76	77					12																	8083895		2203	4300	6503	SO:0001819	synonymous_variant	6515			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.456T>A	12.37:g.8083895A>T			B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																				0.522	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		T	8083895	A	T	8083895	2	4	43	1	0	0	0	0	0	0	0	1	14545	146	6	5		5	SLC2A3	12	8083895	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	895730	8083895	125768000	607	3784											
AICDA	57379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	8757413	8757413	+	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	agccccttaccaaaaggatgCgccgaagctgtctggagaga	12	6	12	11	2	1	1	0	0	1	1	1	5	1	3	4	2	4	1	4	2	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8757413C>T	ENST00000229335.6	-	4	636	c.533G>A	c.(532-534)cGc>cAc	p.R178H	AICDA_ENST00000537228.1_Missense_Mutation_p.R168H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	178					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CAAAAGGATGCGCCGAAGCTG	0.378																																					GBM(62;896 1067 5527 26594 30137)	.											0													116	113	114					12																	8757413		1809	4078	5887	SO:0001583	missense	57379			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.533G>A	12.37:g.8757413C>T	ENSP00000229335:p.Arg178His		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.174200|4.174200	0.78452|0.78452	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.64085	.|-0.08;-0.08	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.161178	.|0.56097	.|D	.|0.000025	T|T	0.78984|0.78984	0.4370|0.4370	M|M	0.78456|0.78456	2.415|2.415	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.70935	.|0.971;0.958	T|T	0.80786|0.80786	-0.1227|-0.1227	5|10	.|0.59425	.|D	.|0.04	-21.6348|-21.6348	15.9806|15.9806	0.80105|0.80105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|178;168	.|Q9GZX7;Q6QJ81	.|AICDA_HUMAN;.	T|H	177|178;168	.|ENSP00000229335:R178H;ENSP00000445691:R168H	.|ENSP00000229335:R178H	A|R	-|-	1|2	0|0	AICDA|AICDA	8648680|8648680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	5.700000|5.700000	0.68318|0.68318	2.546000|2.546000	0.85860|0.85860	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.378	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		T	8757413	C	T	8757413	3	4	43	1	0	0	0	0	1	0	0	0	422	768	27	1	71	1	AICDA	12	8757413	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	673518	8757413	125094482	608	3785											
RIMKLB	57494	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	8902463	8902463	+	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	atttatatatttcaggtctgCggatcaatggagagctaatc	12	14	9	6	1	3	1	2	0	1	1	4	3	3	2	0	3	2	1	0	3	5	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8902463C>T	ENST00000538135.1	+	3	1006	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	RIMKLB_ENST00000357529.3_Missense_Mutation_p.R61W|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Missense_Mutation_p.R61W			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	61					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCAGGTCTGCGGATCAATGG	0.408																																						.											0													34	32	33					12																	8902463		1872	4104	5976	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.181C>T	12.37:g.8902463C>T	ENSP00000440943:p.Arg61Trp		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112773	0.77210	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.47	5.47	0.80525	.	0.092366	0.45606	U	0.000341	T	0.67674	0.2918	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.59221	0.854;0.732	T	0.68481	-0.5397	9	0.54805	T	0.06	.	17.8968	0.88891	0.0:1.0:0.0:0.0	.	61;61	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	W	61;61;122;61;61;61	.	ENSP00000350136:R61W	R	+	1	2	RIMKLB	8793730	1.000000	0.71417	0.953000	0.39169	0.434000	0.31775	7.392000	0.79840	2.571000	0.86741	0.591000	0.81541	CGG		0.408	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		T	8902463	C	T	8902463	3	4	43	1	0	0	0	0	1	0	0	0	13366	759	27	1	187	1	RIMKLB	12	8902463	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	145050	8902463	124949432	609	3786											
LOH12CR1	118426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	12618601	12618601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctccgccgcatacagaTgggcatcgaccagactgtgc	9	7	10	15	3	0	2	0	0	0	2	3	3	2	2	4	1	2	2	4	1	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:12618601T>C	ENST00000314565.4	+	4	813	c.482T>C	c.(481-483)aTg>aCg	p.M161T	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.M142T|LOH12CR1_ENST00000298571.6_Missense_Mutation_p.M113T	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	161										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CGCATACAGATGGGCATCGAC	0.607																																						.											0													80	63	69					12																	12618601		2203	4300	6503	SO:0001583	missense	118426			AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.482T>C	12.37:g.12618601T>C	ENSP00000321546:p.Met161Thr		Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	T	5.793	0.330582	0.10956	.	.	ENSG00000165714	ENST00000542728;ENST00000314565;ENST00000298571	T;T;T	0.42513	0.97;0.97;0.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	L	0.38838	1.175	0.58432	D	0.999996	B;B	0.30634	0.119;0.288	B;B	0.29267	0.067;0.1	T	0.09228	-1.0684	10	0.07990	T	0.79	-29.0378	14.4761	0.67546	0.0:0.0:0.0:1.0	.	113;161	Q969J3-2;Q969J3	.;L12R1_HUMAN	T	142;161;113	ENSP00000443023:M142T;ENSP00000321546:M161T;ENSP00000298571:M113T	ENSP00000298571:M113T	M	+	2	0	LOH12CR1	12509868	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.649000	0.83500	2.151000	0.67156	0.455000	0.32223	ATG		0.607	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			C	12618601	T	C	12618601	3	2	43	1	0	0	0	0	1	0	0	0	8891	1464	51	4	496	4	LOH12CR1	12	12618601	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3716138	12618601	121233294	610	3787											
C12orf60	144608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	14976228	14976228	+	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	agtattcaaaagtgcccataCgccagtcatcatctctgtgc	11	11	7	12	1	4	0	3	0	1	0	5	0	4	0	2	0	3	1	2	0	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:14976228C>T	ENST00000330828.2	+	2	563	c.359C>T	c.(358-360)aCg>aTg	p.T120M	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AGTGCCCATACGCCAGTCATC	0.428																																						.											0													159	156	157					12																	14976228		2203	4300	6503	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.359C>T	12.37:g.14976228C>T	ENSP00000331691:p.Thr120Met		A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.480950	0.44044	.	.	ENSG00000182993	ENST00000330828	T	0.18174	2.23	4.62	-1.82	0.07857	.	1.310590	0.05203	N	0.505336	T	0.09818	0.0241	L	0.32530	0.975	0.09310	N	1	P	0.37398	0.593	B	0.24701	0.055	T	0.27606	-1.0069	10	0.59425	D	0.04	-5.0763	3.2598	0.06845	0.2825:0.3048:0.0:0.4127	.	120	Q5U649	CL060_HUMAN	M	120	ENSP00000331691:T120M	ENSP00000331691:T120M	T	+	2	0	C12orf60	14867495	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.809000	0.01731	-0.207000	0.10187	0.561000	0.74099	ACG		0.428	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		T	14976228	C	T	14976228	3	4	43	1	0	0	0	0	1	0	0	0	1703	536	19	1	361	1	C12orf60	12	14976228	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2357627	14976228	118875667	611	3788											
ITPR2	3709	hgsc.bcm.edu;ucsc.edu	37	chr12	26581017	26581017	+	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	accgagaacaatggagaaagTgtacctgtaaaatgtggaag	17	7	12	5	1	0	2	0	0	0	2	0	5	0	3	2	2	2	2	2	2	7	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:26581017T>C	ENST00000381340.3	-	49	7190	c.6774A>G	c.(6772-6774)acA>acG	p.T2258T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2258					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)	ATGGAGAAAGTGTACCTGTAA	0.358																																						.											0													63	57	59					12																	26581017		1845	4093	5938	SO:0001819	synonymous_variant	3709			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.6774A>G	12.37:g.26581017T>C			O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																				0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26581017	T	C	26581017	2	2	43	1	0	0	0	0	0	0	0	1	7921	1683	59	2		2	ITPR2	12	26581017	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	11604789	26581017	107270878	612	3789											
KLHDC5	57542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	27933686	27933686	+	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	cgcctggcgcaggtgtacggGctgcccgacctgcaggaggc	5	5	17	14	4	0	0	0	0	0	0	0	2	0	1	3	5	3	4	3	5	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:27933686G>A	ENST00000381271.2	+	1	734	c.423G>A	c.(421-423)ggG>ggA	p.G141G	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	141					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGGTGTACGGGCTGCCCGACC	0.657																																						.											0													51	55	54					12																	27933686		2203	4300	6503	SO:0001819	synonymous_variant	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.423G>A	12.37:g.27933686G>A			Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1																																																																																				0.657	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		A	27933686	G	A	27933686	2	1	43	1	0	0	0	0	0	0	0	1	8359	1190	42	3		3	KLHDC5	12	27933686	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1352669	27933686	105918209	613	3790											
LRRK2	120892	broad.mit.edu	37	chr12	40689347	40689347	+	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	gaactaagagatattgatgcCctaagccagaaatgctgtat	15	10	9	7	0	0	3	0	1	0	2	0	5	0	3	2	0	4	2	2	0	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:40689347C>A	ENST00000298910.7	+	23	3055	c.2997C>A	c.(2995-2997)gcC>gcA	p.A999A	LRRK2_ENST00000343742.2_Silent_p.A999A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	999					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)				ATATTGATGCCCTAAGCCAGA	0.418																																						.											0													83	77	79					12																	40689347		2203	4300	6503	SO:0001819	synonymous_variant	120892			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.2997C>A	12.37:g.40689347C>A			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40689347	C	A	40689347	2	1	43	1	0	0	0	0	0	0	0	1	9033	610	22	5		5	LRRK2	12	40689347	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12755661	40689347	93162548	614	3791											
TMEM117	84216	broad.mit.edu	37	chr12	44238507	44238507	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggtctcgcatgattgTggcttacttggtgatcttct	4	17	10	10	1	3	2	0	2	3	0	5	2	4	2	1	3	1	2	1	3	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:44238507T>C	ENST00000266534.3	+	2	180	c.53T>C	c.(52-54)gTg>gCg	p.V18A	TMEM117_ENST00000551577.1_Missense_Mutation_p.V18A|TMEM117_ENST00000536799.1_5'Flank	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	18						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)		CGCATGATTGTGGCTTACTTG	0.388																																						.											0													191	191	191					12																	44238507		2203	4300	6503	SO:0001583	missense	84216			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.53T>C	12.37:g.44238507T>C	ENSP00000266534:p.Val18Ala			Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059810	0.76074	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.56275	0.47;0.47	5.72	5.72	0.89469	.	0.058546	0.64402	D	0.000002	T	0.48660	0.1512	L	0.43152	1.355	0.80722	D	1	P;P	0.39181	0.525;0.663	B;B	0.37731	0.188;0.257	T	0.53493	-0.8431	10	0.66056	D	0.02	-20.8088	16.2962	0.82776	0.0:0.0:0.0:1.0	.	18;18	F8VS00;Q9H0C3	.;TM117_HUMAN	A	18	ENSP00000448595:V18A;ENSP00000266534:V18A	ENSP00000266534:V18A	V	+	2	0	TMEM117	42524774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.951000	0.87819	2.304000	0.77564	0.528000	0.53228	GTG		0.388	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		C	44238507	T	C	44238507	3	2	43	1	0	0	0	0	1	0	0	0	16028	1696	59	2	55	2	TMEM117	12	44238507	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3549160	44238507	89613388	615	3792											
HDAC7	51564	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	48185382	48185382	+	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	ccattacctgccagcttcccGttgtccagtttgaggcggct	5	12	10	14	2	0	1	0	1	0	0	2	1	2	1	5	2	3	4	5	2	1	4	rs138164422		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:48185382G>A	ENST00000427332.2	-	15	1959	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000552960.1_Silent_p.N623N|HDAC7_ENST00000354334.3_Silent_p.N603N|HDAC7_ENST00000380610.4_Silent_p.N657N|HDAC7_ENST00000080059.7_Silent_p.N640N			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	601	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|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 binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCAGCTTCCCGTTGTCCAGTT	0.652																																						.											0								G	,	1,4405	2.1+/-5.4	0,1,2202	34	35	35		1809,1920	1.3	1	12	dbSNP_134	35	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HDAC7	NM_001098416.2,NM_015401.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	603/955,640/992	48185382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1803C>T	12.37:g.48185382G>A			B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37		.	.	.	.	.	.	.	.	.	.	G	9.279	1.047755	0.19827	2.27E-4	0.0	ENSG00000061273	ENST00000548080	.	.	.	5.23	1.32	0.21799	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51795	-0.8660	4	.	.	.	.	9.6755	0.40039	0.3745:0.0:0.6255:0.0	.	.	.	.	M	81	.	.	T	-	2	0	HDAC7	46471649	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.288000	0.18939	0.324000	0.23333	0.558000	0.71614	ACG		0.652	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			A	48185382	G	A	48185382	2	1	43	1	0	0	0	0	0	0	0	1	7012	1136	40	1		1	HDAC7	12	48185382	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3946875	48185382	85666513	616	3793											
VDR	7421	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	48272845	48272845	+	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	acagatccggggcacgttccGgtcaaagtctccagggtcag	9	7	13	12	3	3	1	2	0	1	1	6	1	5	1	3	4	0	2	3	4	1	1	rs147496897	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:48272845G>A	ENST00000395324.2	-	3	320	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	VDR_ENST00000549336.1_Missense_Mutation_p.R18W|VDR_ENST00000229022.3_Missense_Mutation_p.R18W|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000550325.1_Missense_Mutation_p.R68W			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	18					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)	GGCACGTTCCGGTCAAAGTCT	0.587													G|||	2	0.000399361	8e-04	0	5008	,	,		12672	0		0	False		,,,				2504	0.001					.											0													107	89	95					12																	48272845		2203	4300	6503	SO:0001583	missense	7421			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.52C>T	12.37:g.48272845G>A	ENSP00000378734:p.Arg18Trp		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785656	0.70337	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D	0.94537	-3.37;-3.37;-3.37;-3.37;-2.92;-3.45;-3.3	5.58	5.58	0.84498	.	0.134840	0.50627	D	0.000118	D	0.96667	0.8912	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.73708	0.918;0.981	D	0.96760	0.9560	10	0.87932	D	0	.	13.1559	0.59516	0.0:0.0:0.8403:0.1597	.	18;68	P11473;G3V1V9	VDR_HUMAN;.	W	18;18;18;68;18;18;18	ENSP00000378734:R18W;ENSP00000229022:R18W;ENSP00000449573:R18W;ENSP00000447173:R68W;ENSP00000448659:R18W;ENSP00000449561:R18W;ENSP00000450105:R18W	ENSP00000229022:R18W	R	-	1	2	VDR	46559112	0.992000	0.36948	1.000000	0.80357	0.937000	0.57800	0.594000	0.24014	2.630000	0.89119	0.655000	0.94253	CGG		0.587	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			A	48272845	G	A	48272845	3	1	43	1	0	0	0	0	1	0	0	0	17146	1115	39	1	1263	1	VDR	12	48272845	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	87463	48272845	85579050	617	3794											
RND1	27289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	49251932	49251932	+	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	ttcagacacagcatggatgcCgtccgaaagatgctgtggat	11	9	12	9	2	1	2	1	0	0	2	2	5	2	4	2	2	3	2	2	2	1	1	rs145827381	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:49251932C>T	ENST00000309739.5	-	5	676	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	182					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCATGGATGCCGTCCGAAAGA	0.557													C|||	2	0.000399361	0	0	5008	,	,		16084	0.002		0	False		,,,				2504	0					.											0													123	110	115					12																	49251932		2203	4300	6503	SO:0001819	synonymous_variant	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.546G>A	12.37:g.49251932C>T			A8K9P7	Silent	SNP	ENST00000309739.5	37	CCDS8771.1																																																																																				0.557	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470		T	49251932	C	T	49251932	2	4	43	1	0	0	0	0	0	0	0	1	13419	639	23	1		1	RND1	12	49251932	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	979087	49251932	84599963	618	3795											
PRKAG1	5571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	49396782	49396782	+	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	tttcatccaccactacaagtCggtgaacctggcacagagca	12	8	8	13	1	1	2	1	1	0	1	3	2	2	2	3	2	3	2	3	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:49396782C>T	ENST00000548065.1	-	12	1352	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	PRKAG1_ENST00000547306.1_Missense_Mutation_p.R248Q|PRKAG1_ENST00000552212.1_Missense_Mutation_p.R267Q|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.R215Q|PRKAG1_ENST00000316299.5_Missense_Mutation_p.R308Q			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	299	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.R299Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	CACTACAAGTCGGTGAACCTG	0.542																																						.											1	Substitution - Missense(1)	large_intestine(1)											146	119	128					12																	49396782		2203	4300	6503	SO:0001583	missense	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.896G>A	12.37:g.49396782C>T	ENSP00000447433:p.Arg299Gln		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526842	0.64860	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	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	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.056121	0.64402	D	0.000001	D	0.97620	0.9220	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98472	1.0601	10	0.87932	D	0	-4.9987	14.178	0.65555	0.151:0.849:0.0:0.0	.	308;299	Q8N7V9;P54619	.;AAKG1_HUMAN	Q	64;215;248;308;299;267;219;193	ENSP00000446987:R64Q;ENSP00000378599:R215Q;ENSP00000448873:R248Q;ENSP00000323867:R308Q;ENSP00000447433:R299Q;ENSP00000448972:R267Q;ENSP00000449121:R219Q;ENSP00000447671:R193Q	ENSP00000323867:R308Q	R	-	2	0	PRKAG1	47683049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.574000	0.82434	1.402000	0.46780	0.655000	0.94253	CGA		0.542	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		T	49396782	C	T	49396782	3	4	43	1	0	0	0	0	1	0	0	0	12500	884	31	1	103	1	PRKAG1	12	49396782	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	144850	49396782	84455113	619	3796											
PRPF40B	25766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	50025707	50025707	+	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	agcggtgcctgtcaccgcagCggtaagcactaggggccagc	8	5	15	13	3	1	0	1	0	0	0	1	0	1	0	3	4	5	3	3	4	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:50025707C>T	ENST00000380281.1	+	3	291	c.227C>T	c.(226-228)gCg>gTg	p.A76V	PRPF40B_ENST00000548825.2_Splice_Site_p.A98V|PRPF40B_ENST00000261897.1_Splice_Site_p.A70V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	76					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTCACCGCAGCGGTAAGCACT	0.542																																						.											0													166	151	156					12																	50025707		2203	4300	6503	SO:0001630	splice_region_variant	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.228+1C>T	12.37:g.50025707C>T			O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	C	15.05	2.717180	0.48622	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.25912	1.77;1.84;1.78	4.86	3.97	0.46021	.	0.196494	0.33834	N	0.004505	T	0.13756	0.0333	N	0.19112	0.55	0.34778	D	0.734407	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.16808	-1.0390	9	.	.	.	-6.4768	6.9653	0.24619	0.0:0.7305:0.1757:0.0938	.	76;70;76	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	98;70;76	ENSP00000448073:A98V;ENSP00000261897:A70V;ENSP00000369634:A76V	.	A	+	2	0	PRPF40B	48311974	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	0.740000	0.26188	1.401000	0.46761	0.655000	0.94253	GCG		0.542	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	Missense_Mutation	T	50025707	C	T	50025707	5	4	43	1	0	0	0	0	0	0	1	0	12572	782	27	1	237	1	PRPF40B	12	50025707	Splice_Site	SNP	C	TCGA-KN-8428-01A-11D-2310-10	628925	50025707	83826188	620	3797											
NCKAP5L	57701	broad.mit.edu;hgsc.bcm.edu	37	chr12	50185655	50185655	+	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	ccacaagaggacagcgagtcGtagagtgagtcactgagaga	14	5	14	8	2	1	5	1	2	0	3	2	8	1	6	1	1	1	1	1	1	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:50185655G>A	ENST00000335999.6	-	13	4173	c.3972C>T	c.(3970-3972)taC>taT	p.Y1324Y		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1320										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACAGCGAGTCGTAGAGTGAGT	0.687																																						.											0													17	22	21					12																	50185655		2007	4171	6178	SO:0001819	synonymous_variant	57701			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.3972C>T	12.37:g.50185655G>A			Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	CCDS41781.2																																																																																				0.687	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		A	50185655	G	A	50185655	2	1	43	1	0	0	0	0	0	0	0	1	10224	1140	40	1		1	NCKAP5L	12	50185655	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	159948	50185655	83666240	621	3798											
TMPRSS12	283471	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	51252617	51252617	+	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	gaactaataatatacatggaCgctatcctcataccaagaag	17	9	6	9	1	1	1	1	0	0	1	2	3	2	2	2	1	3	1	2	1	9	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:51252617C>T	ENST00000398458.3	+	3	465	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.R145C	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	145	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TATACATGGACGCTATCCTCA	0.279																																						.											0													33	31	31					12																	51252617		1815	4071	5886	SO:0001583	missense	283471			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.433C>T	12.37:g.51252617C>T	ENSP00000381476:p.Arg145Cys		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903861	0.33628	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	D;T	0.89343	-2.5;0.29	5.75	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.367380	0.01447	N	0.015346	D	0.83751	0.5322	L	0.55481	1.735	0.09310	N	1	D;P	0.60160	0.987;0.876	B;B	0.38500	0.275;0.054	T	0.77547	-0.2547	10	0.38643	T	0.18	4.4334	16.6272	0.84974	0.184:0.7002:0.1158:0.0	.	145;145	F8WBX2;Q86WS5	.;TMPSC_HUMAN	C	145	ENSP00000447259:R145C;ENSP00000381476:R145C	ENSP00000381476:R145C	R	+	1	0	TMPRSS12	49538884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.762000	0.04745	-1.833000	0.01195	-1.120000	0.02017	CGC		0.279	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		T	51252617	C	T	51252617	3	4	43	1	0	0	0	0	1	0	0	0	16241	536	19	1	443	1	TMPRSS12	12	51252617	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1066962	51252617	82599278	622	3799											
GALNT6	11226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	51752021	51752021	+	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	ttgttccctcagctgcagtcGttccgaaatgtcaccgaagg	8	11	10	12	3	2	0	2	0	0	0	5	2	4	0	3	1	2	4	3	1	2	3	rs200682302		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:51752021G>A	ENST00000543196.2	-	8	1598	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	GALNT6_ENST00000356317.3_Nonsense_Mutation_p.R465*			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	465					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R465*(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCTGCAGTCGTTCCGAAATG	0.468													g|||	1	0.000199681	0	0	5008	,	,		16880	0		0	False		,,,				2504	0.001					.											1	Substitution - Nonsense(1)	skin(1)							stop/ARG	0,4406		0,0,2203	226	189	201		1393	3	0.9	12		201	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	GALNT6	NM_007210.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		465/623	51752021	1,13005	2203	4300	6503	SO:0001587	stop_gained	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1393C>T	12.37:g.51752021G>A	ENSP00000444171:p.Arg465*		Q8IYH4|Q9H6G2|Q9UIV5	Nonsense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	g	38	7.025785	0.98010	0.0	1.16E-4	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	.	.	.	3.95	3.05	0.35203	.	0.563076	0.19138	N	0.121749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8734	0.46896	0.0:0.0:0.662:0.338	.	.	.	.	X	465;465;446	.	ENSP00000348668:R465X	R	-	1	2	GALNT6	50038288	0.273000	0.24181	0.862000	0.33874	0.948000	0.59901	0.695000	0.25527	1.215000	0.43411	0.457000	0.33378	CGA		0.468	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		A	51752021	G	A	51752021	4	1	43	1	0	0	0	0	0	1	0	0	6217	1153	40	1	491	1	GALNT6	12	51752021	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	499404	51752021	82099874	623	3800											
NR4A1	3164	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	52449897	52449897	+	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	aggcggcgaaaccgctgccaGttctgccgcttccagaagtg	8	7	13	13	4	1	1	0	0	1	1	2	2	2	1	4	2	3	3	4	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52449897G>A	ENST00000243050.1	+	4	1274	c.960G>A	c.(958-960)caG>caA	p.Q320Q	RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Silent_p.Q333Q|NR4A1_ENST00000394825.1_Silent_p.Q320Q|NR4A1_ENST00000360284.3_Silent_p.Q333Q|NR4A1_ENST00000545748.1_Silent_p.Q374Q|NR4A1_ENST00000394824.2_Silent_p.Q320Q	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	320					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|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)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ACCGCTGCCAGTTCTGCCGCT	0.637																																						.											0													80	77	78					12																	52449897		2203	4300	6503	SO:0001819	synonymous_variant	3164			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.960G>A	12.37:g.52449897G>A			B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008969	0.54361	.	.	ENSG00000123358	ENST00000550763	T	0.48201	0.82	4.27	3.38	0.38709	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63301	-0.6668	6	0.72032	D	0.01	.	11.7719	0.51965	0.0893:0.0:0.9107:0.0	.	.	.	.	N	136	ENSP00000449858:S136N	ENSP00000449858:S136N	S	+	2	0	NR4A1	50736164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.709000	0.47160	1.396000	0.46663	0.561000	0.74099	AGT		0.637	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			A	52449897	G	A	52449897	2	1	43	1	0	0	0	0	0	0	0	1	10632	1020	36	4		4	NR4A1	12	52449897	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	697876	52449897	81401998	624	3801											
KRT81	3887	broad.mit.edu;hgsc.bcm.edu	37	chr12	52681795	52681795	+	Silent	SNP	G	G	A																															cggtaccaggactcggcctcGgcccggctgcgggtgacaat																								rs200239075	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52681795G>A	ENST00000327741.5	-	5	941	c.873C>T	c.(871-873)gcC>gcT	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																																						.											0													97	83	88					12																	52681795		2203	4300	6503	SO:0001819	synonymous_variant	3887			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>T	12.37:g.52681795G>A			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		A	52681795	G	A	52681795	2	1	43	1	0	0	0	0	0	0	0	1	8495	1103	39	1		1	KRT81	12	52681795	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	231898	52681795	81170100	625	3802	98	2									
KRT81	3887	hgsc.bcm.edu	37	chr12	52681804	52681804	+	Silent	SNP	G	G	A																															gactcggcctcggcccggctGcgggtgacaatgtcgtcata																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52681804G>A	ENST00000327741.5	-	5	932	c.864C>T	c.(862-864)cgC>cgT	p.R288R	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	288	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)		CGGCCCGGCTGCGGGTGACAA	0.567																																						.											0													109	92	98					12																	52681804		2203	4300	6503	SO:0001819	synonymous_variant	3887			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.864C>T	12.37:g.52681804G>A			Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.567	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		A	52681804	G	A	52681804	2	1	43	1	0	0	0	0	0	0	0	1	8495	1306	46	4		4	KRT81	12	52681804	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9	52681804	81170091	626	3803	98	2									
KRT81	3887	hgsc.bcm.edu	37	chr12	52682214	52682214	+	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	acgttggcctccaggtctgaCttgcggaggtaggcgcagtc	6	9	15	11	3	1	1	0	1	1	0	3	2	2	2	2	5	1	3	2	5	1	3	rs141008448	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52682214C>T	ENST00000327741.5	-	4	734	c.666G>A	c.(664-666)aaG>aaA	p.K222K	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	222	Coil 1B.|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)		CCAGGTCTGACTTGCGGAGGT	0.622													.|||	11	0.00219649	0	0	5008	,	,		18781	0.0099		0	False		,,,				2504	0.001					.											0													116	115	116					12																	52682214		2203	4300	6503	SO:0001819	synonymous_variant	3887			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.666G>A	12.37:g.52682214C>T			Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.622	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		T	52682214	C	T	52682214	2	4	43	1	0	0	0	0	0	0	0	1	8495	564	20	4		4	KRT81	12	52682214	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	410	52682214	81169681	627	3804											
KRT6C	286887	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr12	52867039	52867039	+	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	ttgatctgctcacgctcctcGgcccgcacccgctggatggc	4	9	11	17	4	2	1	1	1	1	0	4	2	3	2	3	3	1	4	3	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52867039G>A	ENST00000252250.6	-	1	530	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	161	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACGCTCCTCGGCCCGCACCC	0.612																																						.											0													34	25	28					12																	52867039		2187	4104	6291	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.483C>T	12.37:g.52867039G>A			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.612	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		A	52867039	G	A	52867039	2	1	43	1	0	0	0	0	0	0	0	1	8482	1103	39	1		1	KRT6C	12	52867039	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	184825	52867039	80984856	628	3805											
KRT6A	3853	mdanderson.org	37	chr12	52882315	52882315	+	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	tgctcagcatcagcaatggcGgcctgcaggttggcgcactg	7	8	14	12	2	2	0	2	0	0	0	2	0	2	0	1	4	4	6	1	4	1	1	rs369027797		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52882315G>A	ENST00000330722.6	-	7	1289	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	407	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)		CAGCAATGGCGGCCTGCAGGT	0.557																																						.											0								G		2,4404	2.1+/-5.4	0,2,2201	71	67	68		1221	-5.9	0.7	12		68	2,8598		0,2,4298	no	coding-synonymous	KRT6A	NM_005554.3		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		407/565	52882315	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3853			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.1221C>T	12.37:g.52882315G>A			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.557	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		A	52882315	G	A	52882315	2	1	43	1	0	0	0	0	0	0	0	1	8480	1103	39	1		1	KRT6A	12	52882315	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	15276	52882315	80969580	629	3806											
KRT5	3852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	52910639	52910639	+	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	atggcgttctgcagattggcGcactacagatagaaaggagg	12	8	14	7	2	1	3	0	0	1	3	1	4	1	4	0	4	2	3	0	4	3	4	rs539263098		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52910639G>A	ENST00000252242.4	-	7	1611	c.1221C>T	c.(1219-1221)tgC>tgT	p.C407C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	407	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGATTGGCGCACTACAGAT	0.572													G|||	1	0.000199681	0	0	5008	,	,		20701	0		0	False		,,,				2504	0.001					.											0													53	49	51					12																	52910639		2203	4300	6503	SO:0001819	synonymous_variant	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1221C>T	12.37:g.52910639G>A			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	7.163	0.586132	0.13749	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.72	-5.42	0.02640	.	.	.	.	.	T	0.65270	0.2675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67067	-0.5764	4	.	.	.	.	16.6149	0.84904	0.6611:0.0:0.3389:0.0	.	.	.	.	C	115	.	.	R	-	1	0	KRT5	51196906	0.000000	0.05858	0.889000	0.34880	0.847000	0.48162	-1.493000	0.02298	-0.962000	0.03604	-0.122000	0.15005	CGC		0.572	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			A	52910639	G	A	52910639	2	1	43	1	0	0	0	0	0	0	0	1	8479	1079	38	1		1	KRT5	12	52910639	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	28324	52910639	80941256	630	3807											
KRT2	3849	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr12	53045674	53045674	+	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	gccaccaaatccaccagcggCgccaaagccaccacctcctc	11	3	6	21	2	0	0	0	0	0	0	3	0	2	0	9	1	2	0	9	1	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53045674C>T	ENST00000309680.3	-	1	274	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	85	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)		ccaccagcggcgccaaagcca	0.622																																						.											0													52	37	42					12																	53045674		2203	4300	6503	SO:0001583	missense	3849				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.253G>A	12.37:g.53045674C>T	ENSP00000310861:p.Ala85Thr		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839044	0.16891	.	.	ENSG00000172867	ENST00000309680	D	0.85629	-2.01	5.27	-3.3	0.05003	.	.	.	.	.	T	0.69333	0.3099	L	0.27053	0.805	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.52208	-0.8606	9	0.22706	T	0.39	.	4.007	0.09605	0.1764:0.4844:0.0701:0.2691	.	85	P35908	K22E_HUMAN	T	85	ENSP00000310861:A85T	ENSP00000310861:A85T	A	-	1	0	KRT2	51331941	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.275000	0.08525	-0.506000	0.06558	-1.373000	0.01185	GCC		0.622	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		T	53045674	C	T	53045674	3	4	43	1	0	0	0	0	1	0	0	0	8457	768	27	1	1702	1	KRT2	12	53045674	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	135035	53045674	80806221	631	3808											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	53663207	53663207	+	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	gggcagaagccctgttggaaCggcgagctgcatttgcagct	8	8	15	10	2	0	1	0	0	0	1	0	3	0	2	1	3	6	6	1	3	2	2	rs145536592		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53663207C>T	ENST00000257934.4	+	3	572	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R161W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	161					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						CCTGTTGGAACGGCGAGCTGC	0.577																																					Colon(53;1069 1201 2587 5382)	.											0								C	TRP/ARG	0,4406		0,0,2203	78	83	82		481	1.9	0	12	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	ESPL1	NM_012291.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	161/2121	53663207	1,13005	2203	4300	6503	SO:0001583	missense	9700			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.481C>T	12.37:g.53663207C>T	ENSP00000257934:p.Arg161Trp			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465148	0.26335	0.0	1.16E-4	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.13778	2.56;2.56	4.89	1.85	0.25348	.	0.549157	0.17944	N	0.156737	T	0.17238	0.0414	L	0.57536	1.79	0.09310	N	1	D	0.62365	0.991	B	0.44315	0.446	T	0.09079	-1.0691	10	0.66056	D	0.02	.	12.8226	0.57702	0.4273:0.5727:0.0:0.0	.	161	Q14674	ESPL1_HUMAN	W	161	ENSP00000257934:R161W;ENSP00000449831:R161W	ENSP00000257934:R161W	R	+	1	2	ESPL1	51949474	0.000000	0.05858	0.007000	0.13788	0.086000	0.17979	0.105000	0.15333	0.279000	0.22186	0.561000	0.74099	CGG		0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53663207	C	T	53663207	3	4	43	1	0	0	0	0	1	0	0	0	5253	527	19	1	487	1	ESPL1	12	53663207	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	617533	53663207	80188688	632	3809											
ESPL1	9700	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	53685530	53685530	+	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	gacattcaggccctggcctaCgggctgtgcccaacccagcc	7	6	11	17	1	1	0	1	0	0	0	1	1	1	0	5	3	4	1	5	3	2	2	rs527909578		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53685530C>T	ENST00000257934.4	+	26	5668	c.5577C>T	c.(5575-5577)taC>taT	p.Y1859Y	ESPL1_ENST00000552462.1_Silent_p.Y1859Y	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1859					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						CCCTGGCCTACGGGCTGTGCC	0.582													c|||	1	0.000199681	0	0	5008	,	,		19231	0		0	False		,,,				2504	0.001				Colon(53;1069 1201 2587 5382)	.											0													139	137	138					12																	53685530		2203	4300	6503	SO:0001819	synonymous_variant	9700			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.5577C>T	12.37:g.53685530C>T				Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53685530	C	T	53685530	2	4	43	1	0	0	0	0	0	0	0	1	5253	547	19	1		1	ESPL1	12	53685530	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	22323	53685530	80166365	633	3810											
TARBP2	7786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	53895879	53895879	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccagaatagggaagaCgcctgtgtacgaccttctca	11	8	12	10	2	1	2	1	0	1	2	2	5	1	4	3	2	1	1	3	2	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53895879C>T	ENST00000267079.2	-	0	0				TARBP2_ENST00000456234.2_Missense_Mutation_p.T24M|TARBP2_ENST00000266987.2_Missense_Mutation_p.T45M|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000394357.2_Missense_Mutation_p.T24M|MAP3K12_ENST00000547488.1_5'Flank|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATAGGGAAGACGCCTGTGTAC	0.597																																						.											0													105	88	94					12																	53895879		2203	4300	6503	SO:0001631	upstream_gene_variant	6895			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895879C>T	Exception_encountered		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270886	0.80469	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000549610;ENST00000394357	T;T;T	0.76709	-1.04;-1.04;-1.04	3.95	3.95	0.45737	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	M	0.73753	2.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.87989	0.2748	10	0.52906	T	0.07	-9.0831	15.2673	0.73672	0.0:1.0:0.0:0.0	.	45;45;45	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	M	45;24;45;24	ENSP00000266987:T45M;ENSP00000416077:T24M;ENSP00000377885:T24M	ENSP00000266987:T45M	T	+	2	0	TARBP2	52182146	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.295000	0.78780	2.197000	0.70478	0.467000	0.42956	ACG		0.597	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		T	53895879	C	T	53895879	1	4	43	0	1	0	0	0	0	0	0	0	15553	536	19	1		1	TARBP2	12	53895879	5'Flank	SNP	C	TCGA-KN-8428-01A-11D-2310-10	210349	53895879	79956016	634	3811											
HOXC13	3229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	54333126	54333126	+	Missense_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	acctgcagcagaagccttgcGcctaccacccgggcgataaa	11	5	10	15	3	0	1	0	0	0	1	0	2	0	1	5	1	5	2	5	1	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:54333126G>A	ENST00000243056.3	+	1	592	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	146					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						GAAGCCTTGCGCCTACCACCC	0.672			T	NUP98	AML																																	.		Dom	yes		12	12q13.3	3229	homeo box C13		L	0													13	14	14					12																	54333126		2194	4294	6488	SO:0001583	missense	3229				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.436G>A	12.37:g.54333126G>A	ENSP00000243056:p.Ala146Thr		Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768156	0.49680	.	.	ENSG00000123364	ENST00000243056	T	0.54071	0.59	2.87	0.899	0.19271	.	0.439557	0.22602	N	0.057946	T	0.36082	0.0954	L	0.34521	1.04	0.31154	N	0.705187	B	0.33238	0.403	B	0.28784	0.094	T	0.35992	-0.9766	10	0.46703	T	0.11	.	9.9089	0.41392	0.0:0.0:0.3313:0.6687	.	146	P31276	HXC13_HUMAN	T	146	ENSP00000243056:A146T	ENSP00000243056:A146T	A	+	1	0	HOXC13	52619393	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.192000	0.32150	0.241000	0.21283	0.313000	0.20887	GCC		0.672	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			A	54333126	G	A	54333126	3	1	43	1	0	0	0	0	1	0	0	0	7312	1087	38	1	438	1	HOXC13	12	54333126	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	437247	54333126	79518769	635	3812											
ITGA7	3679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	56090778	56090778	+	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	cttgggttcttccaggttacGgctcaggaacgtcacacggg	7	10	13	11	3	3	0	2	0	1	0	4	1	4	1	1	5	2	3	1	5	2	4	rs146411608		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56090778G>A	ENST00000555728.1	-	13	1802	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	ITGA7_ENST00000347027.6_Missense_Mutation_p.R542C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R552C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R455C|ITGA7_ENST00000257880.7_Missense_Mutation_p.R592C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R548C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R552C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R548C			Q13683	ITA7_HUMAN	integrin, alpha 7	592					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						TCCAGGTTACGGCTCAGGAAC	0.617													G|||	1	0.000199681	0	0	5008	,	,		17775	0.001		0	False		,,,				2504	0					.											0													71	62	65					12																	56090778		2203	4300	6503	SO:0001583	missense	3679				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.1774C>T	12.37:g.56090778G>A	ENSP00000452387:p.Arg592Cys		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.0	4.361745	0.82353	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71698	-0.57;-0.57;-0.59;-0.11;-0.55;-0.55;-0.56;-0.55	4.41	4.41	0.53225	Integrin alpha-2 (1);	0.070371	0.56097	D	0.000023	T	0.81809	0.4901	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.993;0.995;0.984;1.0	P;P;P;D	0.72075	0.663;0.773;0.761;0.976	D	0.84193	0.0446	10	0.72032	D	0.01	.	14.8887	0.70590	0.0:0.0:1.0:0.0	.	455;592;552;611	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	C	552;548;542;455;592;552;548;592;592	ENSP00000452120:R552C;ENSP00000257879:R548C;ENSP00000343009:R542C;ENSP00000393844:R455C;ENSP00000257880:R592C;ENSP00000377777:R552C;ENSP00000377776:R548C;ENSP00000452387:R592C	ENSP00000257879:R548C	R	-	1	0	ITGA7	54377045	1.000000	0.71417	0.977000	0.42913	0.666000	0.39218	4.398000	0.59697	2.180000	0.69256	0.561000	0.74099	CGT		0.617	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		A	56090778	G	A	56090778	3	1	43	1	0	0	0	0	1	0	0	0	7881	1116	39	1	1827	1	ITGA7	12	56090778	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1757652	56090778	77761117	636	3813											
GDF11	10220	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	56142583	56142583	+	Missense_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	cggaggccggcgtcacatccGtatccgctcactgaagattg	8	8	12	13	5	2	2	2	1	0	1	4	3	4	3	3	3	0	2	3	3	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56142583G>A	ENST00000257868.5	+	2	696	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	220					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGTCACATCCGTATCCGCTCA	0.612																																						.											0													51	41	45					12																	56142583		2203	4300	6503	SO:0001583	missense	10220			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.659G>A	12.37:g.56142583G>A	ENSP00000257868:p.Arg220His		Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.187468|3.187468	0.57909|0.57909	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.65364|.	-0.15|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73690|0.73690	0.3619|0.3619	M|M	0.73217|0.73217	2.22|2.22	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.39282|.	0.666|.	B|.	0.42245|.	0.381|.	T|T	0.74318|0.74318	-0.3704|-0.3704	10|5	0.45353|.	T|.	0.12|.	-5.14|-5.14	15.6178|15.6178	0.76780|0.76780	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|.	O95390|.	GDF11_HUMAN|.	H|I	220|193	ENSP00000257868:R220H|.	ENSP00000257868:R220H|.	R|V	+|+	2|1	0|0	GDF11|GDF11	54428850|54428850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.062000|8.062000	0.89475|0.89475	2.380000|2.380000	0.81148|0.81148	0.555000|0.555000	0.69702|0.69702	CGT|GTA		0.612	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			A	56142583	G	A	56142583	3	1	43	1	0	0	0	0	1	0	0	0	6312	1145	40	1	665	1	GDF11	12	56142583	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	51805	56142583	77709312	637	3814											
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	56478809	56478809	+	Missense_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	aagtgacaggctatgtcctcGtggccatgaatgaattctct	10	12	10	9	1	1	3	0	3	1	0	4	3	2	3	2	2	0	1	2	2	4	2	rs77228285		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56478809G>A	ENST00000267101.3	+	3	705	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V89M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V30M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	89					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)			CTATGTCCTCGTGGCCATGAA	0.483																																						.											0													168	140	149					12																	56478809		2203	4300	6503	SO:0001583	missense	2065			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.265G>A	12.37:g.56478809G>A	ENSP00000267101:p.Val89Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726333	0.69074	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.82	4.75	0.60458	EGF receptor, L domain (1);	0.125118	0.37577	N	0.002023	D	0.85461	0.5702	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.67900	0.507;0.954	D	0.85354	0.1103	10	0.87932	D	0	.	7.8034	0.29187	0.217:0.0:0.783:0.0	.	89;89	P21860;P21860-2	ERBB3_HUMAN;.	M	89;30;89;89;89;30;30	ENSP00000448636:V89M;ENSP00000449138:V30M;ENSP00000267101:V89M;ENSP00000415753:V89M;ENSP00000449713:V30M;ENSP00000408340:V30M	ENSP00000267101:V89M	V	+	1	0	ERBB3	54765076	0.993000	0.37304	0.972000	0.41901	0.852000	0.48524	2.658000	0.46733	2.748000	0.94277	0.655000	0.94253	GTG		0.483	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56478809	G	A	56478809	3	1	43	1	0	0	0	0	1	0	0	0	5208	1145	40	1	275	1	ERBB3	12	56478809	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	336226	56478809	77373086	638	3815											
ANKRD52	283373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	56648376	56648376	+	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	cctgacctccgctcccatccGaagcaggtacttcaccactt	8	9	6	18	2	1	1	1	1	0	0	4	2	4	1	6	1	2	3	6	1	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56648376G>A	ENST00000267116.7	-	7	800	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	227										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCCATCCGAAGCAGGTAC	0.567																																						.											0													41	42	41					12																	56648376		1982	4173	6155	SO:0001583	missense	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.679C>T	12.37:g.56648376G>A	ENSP00000267116:p.Arg227Trp		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808497	0.70797	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.65364	-0.15	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.058570	0.64402	D	0.000005	T	0.74261	0.3693	M	0.73319	2.225	0.51482	D	0.99992	D	0.71674	0.998	D	0.64410	0.925	T	0.76515	-0.2931	10	0.87932	D	0	.	10.8398	0.46708	0.0:0.0:0.7084:0.2916	.	227	Q8NB46	ANR52_HUMAN	W	227	ENSP00000267116:R227W	ENSP00000267116:R227W	R	-	1	2	ANKRD52	54934643	0.011000	0.17503	1.000000	0.80357	0.989000	0.77384	1.099000	0.31013	2.688000	0.91661	0.655000	0.94253	CGG		0.567	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		A	56648376	G	A	56648376	3	1	43	1	0	0	0	0	1	0	0	0	678	1057	37	1	2639	1	ANKRD52	12	56648376	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	169567	56648376	77203519	639	3816											
NACA	4666	ucsc.edu;mdanderson.org	37	chr12	57114975	57114975	+	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	gaggctagagctaaggcagcTggggagatgggaggccctat	10	6	18	7	0	0	2	0	0	0	2	0	5	0	3	1	6	2	4	1	6	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:57114975T>C	ENST00000454682.1	-	3	620	c.339A>G	c.(337-339)ccA>ccG	p.P113P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Silent_p.P113P	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	113	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						CTAAGGCAGCTGGGGAGATGG	0.567			T	BCL6	NHL																																	.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													66	66	66					12																	57114975		1568	3582	5150	SO:0001819	synonymous_variant	4666			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.339A>G	12.37:g.57114975T>C				Silent	SNP	ENST00000454682.1	37																																																																																					0.567	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		C	57114975	T	C	57114975	2	2	43	1	0	0	0	0	0	0	0	1	10133	1567	55	2		2	NACA	12	57114975	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	466599	57114975	76736920	640	3817											
R3HDM2	22864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	57693939	57693939	+	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	cctcacacactgccaggctaCgcaccaactttagcttggaa	11	8	7	15	1	1	0	1	0	0	0	1	1	1	1	3	2	4	3	3	2	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:57693939C>T	ENST00000347140.3	-	5	623	c.233G>A	c.(232-234)cGt>cAt	p.R78H	R3HDM2_ENST00000402412.1_Missense_Mutation_p.R78H|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R78H|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R78H			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	78						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGCCAGGCTACGCACCAACTT	0.403																																						.											0													59	51	53					12																	57693939		692	1591	2283	SO:0001583	missense	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.233G>A	12.37:g.57693939C>T	ENSP00000317903:p.Arg78His		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	33	5.259207	0.95368	.	.	ENSG00000179912	ENST00000347140;ENST00000402412;ENST00000358907;ENST00000403821	T;T;T;T	0.58358	0.54;0.34;0.54;0.61	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.71813	-0.4479	10	0.87932	D	0	-8.834	17.6848	0.88254	0.0:1.0:0.0:0.0	.	78;78	B5MCU0;Q9Y2K5	.;R3HD2_HUMAN	H	78	ENSP00000317903:R78H;ENSP00000385839:R78H;ENSP00000351784:R78H;ENSP00000385169:R78H	ENSP00000317903:R78H	R	-	2	0	R3HDM2	55980206	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.567000	0.82357	2.785000	0.95823	0.591000	0.81541	CGT		0.403	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		T	57693939	C	T	57693939	3	4	43	1	0	0	0	0	1	0	0	0	12888	536	19	1	2777	1	R3HDM2	12	57693939	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	578964	57693939	76157956	641	3818											
CYP27B1	1594	ucsc.edu;mdanderson.org	37	chr12	58160795	58160795	+	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	cagcggacgcgatggaacacTctggaggcgtacttgagggt	9	7	16	9	4	1	1	0	1	1	0	1	5	1	4	0	5	3	1	0	5	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:58160795T>G	ENST00000228606.4	-	1	239	c.30A>C	c.(28-30)agA>agC	p.R10S	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	10					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GATGGAACACTCTGGAGGCGT	0.597																																						.											0													81	96	91					12																	58160795		2203	4300	6503	SO:0001583	missense	1594			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.30A>C	12.37:g.58160795T>G	ENSP00000228606:p.Arg10Ser		B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553432	0.45487	.	.	ENSG00000111012	ENST00000228606	T	0.77098	-1.07	5.26	-3.2	0.05156	.	0.400045	0.25285	N	0.031768	T	0.47021	0.1423	N	0.08118	0	0.09310	N	1	B	0.32573	0.376	B	0.26770	0.073	T	0.51988	-0.8635	10	0.07175	T	0.84	.	10.5905	0.45306	0.0:0.622:0.1134:0.2646	.	10	O15528	CP27B_HUMAN	S	10	ENSP00000228606:R10S	ENSP00000228606:R10S	R	-	3	2	CYP27B1	56447062	0.234000	0.23783	0.002000	0.10522	0.031000	0.12232	-0.194000	0.09559	-1.300000	0.02341	-1.937000	0.00501	AGA		0.597	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		G	58160795	T	G	58160795	3	3	43	1	0	0	0	0	1	0	0	0	4159	1548	54	5	1532	5	CYP27B1	12	58160795	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	466856	58160795	75691100	642	3819											
DYRK2	8445	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr12	68052183	68052183	+	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	gagcagagagtgggggaacgCgctgaaggggtgtgatgatc	10	6	20	5	2	0	4	0	3	0	1	1	7	0	5	0	4	2	2	0	4	2	0	rs138614034	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:68052183C>T	ENST00000344096.3	+	3	1909	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	DYRK2_ENST00000393555.3_Missense_Mutation_p.A426V|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	499	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGGGGGAACGCGCTGAAGGGG	0.587																																						.											0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	58	62	60		1277,1496	5.2	1	12	dbSNP_134	60	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	DYRK2	NM_003583.3,NM_006482.2	64,64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	426/529,499/602	68052183	4,13002	2203	4300	6503	SO:0001583	missense	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1496C>T	12.37:g.68052183C>T	ENSP00000342105:p.Ala499Val		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356088	0.41700	0.0	4.65E-4	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.68025	-0.3;-0.28	5.17	5.17	0.71159	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	0.64800	0.2631	N	0.12471	0.22	0.80722	D	1	D	0.64830	0.994	P	0.58013	0.831	T	0.63677	-0.6583	9	.	.	.	.	19.5702	0.95409	0.0:1.0:0.0:0.0	.	499	Q92630	DYRK2_HUMAN	V	499;426	ENSP00000342105:A499V;ENSP00000377186:A426V	.	A	+	2	0	DYRK2	66338450	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.776000	0.85560	2.800000	0.96347	0.455000	0.32223	GCG		0.587	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			T	68052183	C	T	68052183	3	4	43	1	0	0	0	0	1	0	0	0	4856	768	27	1	1506	1	DYRK2	12	68052183	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9891388	68052183	65799712	643	3820											
CPSF6	11052	broad.mit.edu;ucsc.edu	37	chr12	69656278	69656278	+	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	cagagaacgagagaggcaccGggatcgtgaccgagaccgtg	12	3	16	10	5	0	4	0	1	0	3	1	9	0	5	3	2	1	1	3	2	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:69656278G>A	ENST00000435070.2	+	9	1705	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q	CPSF6_ENST00000266679.8_Missense_Mutation_p.R569Q|CPSF6_ENST00000456847.3_Missense_Mutation_p.R459Q|CPSF6_ENST00000551516.1_Missense_Mutation_p.G35R	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	532	Arg-rich.|Sufficient for nuclear targeting.				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)			GAGAGGCACCGGGATcgtgac	0.493																																						.											0													197	143	161					12																	69656278		2203	4300	6503	SO:0001583	missense	11052			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.1595G>A	12.37:g.69656278G>A	ENSP00000391774:p.Arg532Gln		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.650795|4.650795	0.87958|0.87958	.|.	.|.	ENSG00000111605|ENSG00000111605	ENST00000551516|ENST00000435070;ENST00000456847;ENST00000266679	.|T;T;T	.|0.73681	.|-0.77;-0.77;-0.77	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76300|0.76300	0.3968|0.3968	M|M	0.74467|0.74467	2.265|2.265	0.40144|0.40144	D|D	0.976867|0.976867	.|P;D;D	.|0.56968	.|0.78;0.978;0.962	.|B;B;B	.|0.41412	.|0.022;0.356;0.194	T|T	0.79001|0.79001	-0.1981|-0.1981	5|9	.|.	.|.	.|.	-6.2025|-6.2025	19.9178|19.9178	0.97067|0.97067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;569;532	.|B4DSU9;Q16630-2;Q16630	.|.;.;CPSF6_HUMAN	R|Q	35|532;459;569	.|ENSP00000391774:R532Q;ENSP00000391437:R459Q;ENSP00000266679:R569Q	.|.	G|R	+|+	1|2	0|0	CPSF6|CPSF6	67942545|67942545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.869000|9.869000	0.99810|0.99810	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.493	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		A	69656278	G	A	69656278	3	1	43	1	0	0	0	0	1	0	0	0	3829	1116	39	1	1629	1	CPSF6	12	69656278	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1604095	69656278	64195617	644	3821											
OSBPL8	114882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	76780412	76780412	+	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	tttcactactttcttcaaacGgaaataaggattttcttcaa	13	16	4	8	1	5	0	3	0	2	0	5	2	5	2	0	2	2	0	0	2	5	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:76780412G>A	ENST00000261183.3	-	13	1860	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	OSBPL8_ENST00000393249.2_Missense_Mutation_p.R419C|OSBPL8_ENST00000393250.4_Missense_Mutation_p.R419C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	461					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						TTCTTCAAACGGAAATAAGGA	0.274																																						.											0													60	66	64					12																	76780412		2202	4283	6485	SO:0001583	missense	114882			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.1381C>T	12.37:g.76780412G>A	ENSP00000261183:p.Arg461Cys		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159090	0.94686	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89625	0.3851	10	0.87932	D	0	-12.342	19.8585	0.96775	0.0:0.0:1.0:0.0	.	436;461	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	C	419;461;446;419;461;461;436	ENSP00000376939:R419C;ENSP00000261183:R461C;ENSP00000376940:R419C;ENSP00000450238:R461C;ENSP00000447893:R436C	ENSP00000261183:R461C	R	-	1	0	OSBPL8	75304543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.021000	0.70832	2.760000	0.94817	0.655000	0.94253	CGT		0.274	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		A	76780412	G	A	76780412	3	1	43	1	0	0	0	0	1	0	0	0	11283	1116	39	1	1336	1	OSBPL8	12	76780412	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7124134	76780412	57071483	645	3822											
ZDHHC17	23390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	77222268	77222268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggttcttctggttttggaAtgatatcctttggttataaa	8	19	10	4	0	2	1	0	1	2	0	3	2	3	2	1	4	0	3	1	4	5	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:77222268A>G	ENST00000426126.2	+	10	1788	c.1139A>G	c.(1138-1140)aAt>aGt	p.N380S	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.N380S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	380					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						TGGTTTTGGAATGATATCCTT	0.328																																						.											0													266	251	255					12																	77222268		1827	4076	5903	SO:0001583	missense	23390			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.1139A>G	12.37:g.77222268A>G	ENSP00000403397:p.Asn380Ser		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367365	0.41902	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.31769	1.48;1.48	5.72	5.72	0.89469	.	6.143080	0.00919	N	0.002577	T	0.21841	0.0526	N	0.03608	-0.345	0.80722	D	1	B	0.22414	0.069	B	0.18263	0.021	T	0.03453	-1.1035	10	0.25751	T	0.34	16.3248	16.0023	0.80306	1.0:0.0:0.0:0.0	.	380	Q8IUH5	ZDH17_HUMAN	S	380	ENSP00000403397:N380S;ENSP00000334868:N380S	ENSP00000334868:N380S	N	+	2	0	ZDHHC17	75746399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.269000	0.78482	2.177000	0.69029	0.533000	0.62120	AAT		0.328	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		G	77222268	A	G	77222268	3	3	43	1	0	0	0	0	1	0	0	0	17604	101	4	4	1177	4	ZDHHC17	12	77222268	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	441856	77222268	56629627	646	3823											
ATP2B1	490	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	89992451	89992451	+	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	tacatcatgatgctggctggCgatggagggttgccgcctta	7	11	14	9	2	1	1	1	1	0	0	1	3	1	2	2	4	3	3	2	4	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:89992451C>T	ENST00000359142.3	-	20	3645	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ATP2B1_ENST00000261173.2_Intron|ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000428670.3_Intron|ATP2B1_ENST00000393164.2_Intron	NM_001001323.1	NP_001001323.1	P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1141					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						TGCTGGCTGGCGATGGAGGGT	0.478																																						.											0													200	199	199					12																	89992451		1985	4168	6153	SO:0001583	missense	490			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		ENST00000359142.3:c.3421G>A	12.37:g.89992451C>T	ENSP00000352054:p.Ala1141Thr		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000359142.3	37	CCDS41817.1	.	.	.	.	.	.	.	.	.	.	C	6.580	0.475408	0.12521	.	.	ENSG00000070961	ENST00000359142	T	0.78481	-1.18	5.77	5.77	0.91146	.	.	.	.	.	T	0.53334	0.1790	N	0.01729	-0.75	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58629	-0.7603	9	0.02654	T	1	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	1141	P20020-2	.	T	1141	ENSP00000352054:A1141T	ENSP00000352054:A1141T	A	-	1	0	ATP2B1	88516582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.028000	0.64115	2.715000	0.92844	0.655000	0.94253	GCC		0.478	ATP2B1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406652.1	NM_001682		T	89992451	C	T	89992451	3	4	43	1	0	0	0	0	1	0	0	0	1139	768	27	1	403	1	ATP2B1	12	89992451	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12770183	89992451	43859444	647	3824											
VEZT	55591	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr12	95694384	95694384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaccatgcaggaacagActtttggtggtgaggaggaa	12	9	13	7	0	0	2	0	1	0	1	0	5	0	5	2	5	3	1	2	5	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:95694384A>G	ENST00000436874.1	+	12	2380	c.2275A>G	c.(2275-2277)Act>Gct	p.T759A	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.T711A	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	759					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GCAGGAACAGACTTTTGGTGG	0.413																																						.											0													48	45	46					12																	95694384		1875	4107	5982	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2275A>G	12.37:g.95694384A>G	ENSP00000410083:p.Thr759Ala		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825883	0.50739	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.31769	1.48;1.48;1.49	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	M	0.66939	2.045	0.54753	D	0.999984	D	0.76494	0.999	D	0.78314	0.991	T	0.57808	-0.7747	10	0.72032	D	0.01	-16.7085	15.8862	0.79251	1.0:0.0:0.0:0.0	.	759	Q9HBM0	VEZA_HUMAN	A	759;711;715;759	ENSP00000410083:T759A;ENSP00000261219:T711A;ENSP00000380894:T715A	ENSP00000261219:T711A	T	+	1	0	VEZT	94218515	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.704000	0.84595	2.150000	0.67090	0.528000	0.53228	ACT		0.413	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		G	95694384	A	G	95694384	3	3	43	1	0	0	0	0	1	0	0	0	17153	275	10	2	2321	2	VEZT	12	95694384	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5701933	95694384	38157511	648	3825											
TMPO	7112	bcgsc.ca	37	chr12	98931296	98931296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagagaaccactaaaGggcagagcaaagactccagt	18	3	12	8	0	0	5	0	0	0	5	1	7	1	5	2	1	2	2	2	1	5	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:98931296G>T	ENST00000556029.1	+	4	965	c.609G>T	c.(607-609)aaG>aaT	p.K203N	TMPO_ENST00000261210.5_Missense_Mutation_p.K203N|TMPO_ENST00000343315.5_Missense_Mutation_p.K203N|TMPO_ENST00000393053.2_Missense_Mutation_p.K203N	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	203	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AACCACTAAAGGGCAGAGCAA	0.383																																						.											0													94	88	90					12																	98931296		2203	4300	6503	SO:0001583	missense	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.609G>T	12.37:g.98931296G>T	ENSP00000450627:p.Lys203Asn		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024802	0.75390	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T	0.74632	-0.04;0.26;-0.21;-0.86;-0.81	5.56	1.19	0.21007	.	.	.	.	.	T	0.79185	0.4403	L	0.47716	1.5	0.27883	N	0.939617	D;D;D	0.76494	0.999;0.972;0.997	D;P;P	0.63488	0.915;0.724;0.879	T	0.70923	-0.4740	9	0.72032	D	0.01	.	11.5403	0.50663	0.3536:0.0:0.6464:0.0	.	236;203;203	Q59G12;P42167;A2T926	.;LAP2B_HUMAN;.	N	203;203;203;203;110	ENSP00000450627:K203N;ENSP00000340251:K203N;ENSP00000376773:K203N;ENSP00000261210:K203N;ENSP00000451552:K110N	ENSP00000261210:K203N	K	+	3	2	TMPO	97455427	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.399000	0.20916	0.320000	0.23234	0.650000	0.86243	AAG		0.383	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		T	98931296	G	T	98931296	3	4	43	1	0	0	0	0	1	0	0	0	16234	991	35	5	2147	5	TMPO	12	98931296	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3236912	98931296	34920599	649	3826											
GNPTAB	79158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	102164267	102164267	+	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	ggtgacaatgaaaatattccGaacccatggtgcatgcctct	12	10	9	10	1	1	2	0	2	1	0	2	3	2	2	3	2	3	1	3	2	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:102164267G>A	ENST00000299314.7	-	9	1292	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	RP11-511H9.3_ENST00000600133.1_RNA|GNPTAB_ENST00000549940.1_Missense_Mutation_p.R344W	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	344					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AAAATATTCCGAACCCATGGT	0.453																																						.											0													108	88	94					12																	102164267		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1030C>T	12.37:g.102164267G>A	ENSP00000299314:p.Arg344Trp		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175474	0.78564	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.92965	-3.14;-3.14	5.62	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97564	1.0100	10	0.87932	D	0	-21.6459	12.2157	0.54404	0.069:0.0:0.8031:0.1279	.	344;344	Q3T906-2;Q3T906	.;GNPTA_HUMAN	W	344	ENSP00000299314:R344W;ENSP00000449150:R344W	ENSP00000299314:R344W	R	-	1	2	GNPTAB	100688398	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.381000	0.59587	1.372000	0.46190	0.655000	0.94253	CGG		0.453	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			A	102164267	G	A	102164267	3	1	43	1	0	0	0	0	1	0	0	0	6545	1057	37	1	2792	1	GNPTAB	12	102164267	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3232971	102164267	31687628	650	3827											
C12orf48	55010	broad.mit.edu	37	chr12	102590010	102590010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcaaaaagtaataaatgtActgccaaggacaagttgatt	18	10	8	5	0	0	1	0	1	0	0	0	2	0	2	1	1	3	4	1	1	9	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:102590010A>G	ENST00000358383.5	+	11	1726	c.1681A>G	c.(1681-1683)Act>Gct	p.T561A	PARPBP_ENST00000541394.1_Missense_Mutation_p.T638A|PARPBP_ENST00000392911.2_Missense_Mutation_p.T480A|PARPBP_ENST00000327680.2_Missense_Mutation_p.T480A|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000535811.1_3'UTR			Q9NWS1	PARI_HUMAN	PARP1 binding protein	561					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						TAATAAATGTACTGCCAAGGA	0.318																																						.											0													67	69	69					12																	102590010		2203	4299	6502	SO:0001583	missense	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1681A>G	12.37:g.102590010A>G	ENSP00000351153:p.Thr561Ala		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	A	6.222	0.409187	0.11812	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.82	-0.464	0.12160	.	0.814911	0.11696	N	0.538409	T	0.23289	0.0563	L	0.43923	1.385	0.09310	N	1	B;B;B	0.17667	0.023;0.002;0.001	B;B;B	0.17433	0.018;0.006;0.004	T	0.29731	-1.0002	10	0.05833	T	0.94	-1.1585	0.7572	0.01000	0.3411:0.1255:0.293:0.2404	.	638;276;561	B4DZ31;Q9NWS1-5;Q9NWS1	.;.;PR1BP_HUMAN	A	480;638;561;480	ENSP00000332915:T480A;ENSP00000440850:T638A;ENSP00000351153:T561A;ENSP00000376643:T480A	ENSP00000332915:T480A	T	+	1	0	C12orf48	101114140	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-0.250000	0.08830	-0.013000	0.14199	0.533000	0.62120	ACT		0.318	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		G	102590010	A	G	102590010	3	3	43	1	0	0	0	0	1	0	0	0	1692	391	14	2	1472	2	C12orf48	12	102590010	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	425743	102590010	31261885	651	3828											
GLT8D2	83468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	104391269	104391269	+	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	tccaaatagatgactttctcGtgttggtggataagtagagg	11	13	12	5	1	1	3	0	1	1	2	3	4	2	4	1	3	0	2	1	3	4	5	rs142096211	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:104391269G>A	ENST00000360814.4	-	7	852	c.447C>T	c.(445-447)caC>caT	p.H149H	GLT8D2_ENST00000546436.1_Silent_p.H149H|GLT8D2_ENST00000548660.1_Silent_p.H149H	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	149						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGACTTTCTCGTGTTGGTGGA	0.403																																						.											0								G		6,4400	11.4+/-27.6	0,6,2197	174	173	173		447	-9.5	0.7	12	dbSNP_134	173	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	GLT8D2	NM_031302.3		0,14,6489	AA,AG,GG		0.093,0.1362,0.1076		149/350	104391269	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.447C>T	12.37:g.104391269G>A			Q96KA2	Silent	SNP	ENST00000360814.4	37	CCDS9096.1																																																																																				0.403	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		A	104391269	G	A	104391269	2	1	43	1	0	0	0	0	0	0	0	1	6470	1136	40	1		1	GLT8D2	12	104391269	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1801259	104391269	29460626	652	3829											
ALDH1L2	160428	mdanderson.org	37	chr12	105464485	105464485	+	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	acatttagctctgcacccacGgatctgtaggcttctgccac	8	11	8	14	1	3	0	0	0	3	0	3	1	3	1	2	2	3	4	2	2	2	4	rs74449999	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:105464485G>A	ENST00000258494.9	-	3	431	c.291C>T	c.(289-291)tcC>tcT	p.S97S	ALDH1L2_ENST00000424857.2_Silent_p.S97S|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	97	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	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)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTGCACCCACGGATCTGTAGG	0.483													G|||	59	0.0117812	0.003	0.0144	5008	,	,		17150	0.001		0.0408	False		,,,				2504	0.0031					.											0								G		39,4367	44.6+/-78.6	0,39,2164	184	148	160		291	-10.5	0.2	12	dbSNP_132	160	322,8278	114.0+/-174.0	8,306,3986	no	coding-synonymous	ALDH1L2	NM_001034173.3		8,345,6150	AA,AG,GG		3.7442,0.8852,2.7756		97/924	105464485	361,12645	2203	4300	6503	SO:0001819	synonymous_variant	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.291C>T	12.37:g.105464485G>A			Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	CCDS31891.1																																																																																				0.483	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		A	105464485	G	A	105464485	2	1	43	1	0	0	0	0	0	0	0	1	495	1103	39	1		1	ALDH1L2	12	105464485	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1073216	105464485	28387410	653	3830											
RFX4	5992	broad.mit.edu	37	chr12	107105260	107105260	+	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	ggttctcccaaattctgagaCggcaaacatcactaaatcat	14	10	6	11	1	4	1	2	1	2	1	5	2	4	1	1	2	1	2	1	2	4	3	rs76703390	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:107105260C>T	ENST00000392842.1	+	10	1378	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.R331W|RFX4_ENST00000229387.5_Missense_Mutation_p.R228W	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	322	Necessary for dimerization.				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						AATTCTGAGACGGCAAACATC	0.408													C|||	3	0.000599042	8e-04	0	5008	,	,		19023	0		0.001	False		,,,				2504	0.001					.											0								C	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	151	132	139		991,682,964	4.6	1	12	dbSNP_132	139	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	RFX4	NM_001206691.1,NM_032491.5,NM_213594.2	101,101,101	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging,probably-damaging,probably-damaging	331/745,228/642,322/736	107105260	6,13000	2203	4300	6503	SO:0001583	missense	5992			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.964C>T	12.37:g.107105260C>T	ENSP00000376585:p.Arg322Trp		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	20.9	4.064115	0.76187	4.54E-4	4.65E-4	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.50813	0.73;0.73;0.73	5.46	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.85859	2.78	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79108	0.917;0.992;0.992;0.973	T	0.75599	-0.3262	10	0.87932	D	0	-18.033	12.8063	0.57616	0.4362:0.5638:0.0:0.0	.	228;331;331;322	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	W	322;331;331;228	ENSP00000376585:R322W;ENSP00000350552:R331W;ENSP00000229387:R228W	ENSP00000229387:R228W	R	+	1	2	RFX4	105629390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.116000	0.41930	1.254000	0.44035	0.655000	0.94253	CGG		0.408	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		T	107105260	C	T	107105260	3	4	43	1	0	0	0	0	1	0	0	0	13265	527	19	1	1175	1	RFX4	12	107105260	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1640775	107105260	26746635	654	3831											
SVOP	55530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	109316565	109316565	+	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	tgcctctacagccttcttccGactggagactggggttggga	6	11	13	11	1	2	1	0	0	2	1	3	4	3	2	3	4	3	1	3	4	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:109316565G>A	ENST00000299134.5	-	10	860	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						GCCTTCTTCCGACTGGAGACT	0.542																																						.											0													60	57	58					12																	109316565		1959	4154	6113	SO:0001819	synonymous_variant	55530			BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.861C>T	12.37:g.109316565G>A			Q9NPW5	Missense_Mutation	SNP	ENST00000299134.5	37																																																																																					0.542	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		A	109316565	G	A	109316565	2	1	43	1	0	0	0	0	0	0	0	1	15420	1057	37	1		1	SVOP	12	109316565	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2211305	109316565	24535330	655	3832											
MYO1H	283446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	109882246	109882246	+	Missense_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	ccccaccccagggggatgccGttttgcagtgtggacacgtg	6	8	14	13	2	0	0	0	0	0	0	0	2	0	2	5	3	2	2	5	3	0	2	rs369009537		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:109882246G>A	ENST00000431443.2	+	29	2887	c.2887G>A	c.(2887-2889)Gtt>Att	p.V963I	MYO1H_ENST00000310903.5_Missense_Mutation_p.V953I|RP11-256L11.3_ENST00000539987.1_RNA	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	963	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGGGATGCCGTTTTGCAGTG	0.453																																						.											0													124	117	119					12																	109882246		1960	4161	6121	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2887G>A	12.37:g.109882246G>A	ENSP00000444076:p.Val963Ile		F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.781801	0.00634	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.39229	1.09;1.09	5.6	-6.93	0.01638	Myosin tail 2 (1);	.	.	.	.	T	0.14700	0.0355	N	0.03016	-0.435	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.13407	0.009;0.003	T	0.43032	-0.9416	9	0.02654	T	1	.	13.9631	0.64193	0.5982:0.0:0.4018:0.0	.	963;953	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	I	953;963;144	ENSP00000439182:V953I;ENSP00000444076:V963I	ENSP00000439182:V953I	V	+	1	0	MYO1H	108366629	0.290000	0.24343	0.003000	0.11579	0.023000	0.10783	0.355000	0.20163	-1.700000	0.01414	-1.642000	0.00770	GTT		0.453	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		A	109882246	G	A	109882246	3	1	43	1	0	0	0	0	1	0	0	0	10075	1145	40	1	2971	1	MYO1H	12	109882246	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	565681	109882246	23969649	656	3833											
GIT2	9815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	110390995	110390995	+	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	atcgttgtcttgactctcaaCgctgtgctggttattgatgg	6	16	11	8	2	2	2	1	2	2	0	4	2	2	2	0	2	2	4	0	2	2	4	rs560157222	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:110390995C>T	ENST00000355312.3	-	13	1143	c.1144G>A	c.(1144-1146)Gtt>Att	p.V382I	GIT2_ENST00000551209.1_Missense_Mutation_p.V381I|GIT2_ENST00000361006.5_Missense_Mutation_p.V382I|GIT2_ENST00000553118.1_Missense_Mutation_p.V382I|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000320063.9_Missense_Mutation_p.V382I|GIT2_ENST00000547815.1_Missense_Mutation_p.V382I|GIT2_ENST00000338373.5_Missense_Mutation_p.V382I|GIT2_ENST00000360185.4_Missense_Mutation_p.V382I|GIT2_ENST00000457474.2_Missense_Mutation_p.V384I|GIT2_ENST00000356259.4_Missense_Mutation_p.V382I|GIT2_ENST00000354574.4_Missense_Mutation_p.V384I	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	382					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						TGACTCTCAACGCTGTGCTGG	0.428													C|||	5	0.000998403	0	0	5008	,	,		22911	0		0	False		,,,				2504	0.0051					.											0													253	212	226					12																	110390995		2203	4300	6503	SO:0001583	missense	9815			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.1144G>A	12.37:g.110390995C>T	ENSP00000347464:p.Val382Ile		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718157	0.30503	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T	0.71222	-0.54;-0.49;-0.47;-0.44;-0.46;-0.44;-0.55;-0.54;-0.52;-0.49;-0.5	5.22	-4.34	0.03666	.	0.604715	0.18446	N	0.140997	T	0.45196	0.1330	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.003;0.004;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.007;0.001;0.0;0.0;0.002;0.0;0.001	T	0.28267	-1.0049	10	0.36615	T	0.2	.	12.9502	0.58397	0.0:0.2543:0.0:0.7457	.	382;382;384;384;382;382;382	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	I	382;382;384;382;382;384;382;382;381;320;382;382	ENSP00000347464:V382I;ENSP00000353312:V382I;ENSP00000346585:V384I;ENSP00000340342:V382I;ENSP00000348595:V382I;ENSP00000391813:V384I;ENSP00000354282:V382I;ENSP00000447465:V382I;ENSP00000448832:V381I;ENSP00000450348:V382I;ENSP00000323833:V382I	ENSP00000323833:V382I	V	-	1	0	GIT2	108875378	0.001000	0.12720	0.006000	0.13384	0.714000	0.41099	0.052000	0.14163	-0.534000	0.06315	-0.752000	0.03492	GTT		0.428	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		T	110390995	C	T	110390995	3	4	43	1	0	0	0	0	1	0	0	0	6397	536	19	1	1195	1	GIT2	12	110390995	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	508749	110390995	23460900	657	3834											
OAS1	4938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	113346548	113346548	+	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	ctccacgctggggcaaccccCgtgcgctcagcttcgtactg	5	8	11	17	4	1	0	1	0	0	0	3	0	2	0	3	2	4	5	3	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113346548C>T	ENST00000202917.5	+	2	651	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	OAS1_ENST00000551241.1_Missense_Mutation_p.R130C|OAS1_ENST00000553185.1_Missense_Mutation_p.R130C|OAS1_ENST00000445409.2_Missense_Mutation_p.R130C|OAS1_ENST00000452357.2_Missense_Mutation_p.R130C|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	130					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						GGGCAACCCCCGTGCGCTCAG	0.577																																						.											0													81	77	78					12																	113346548		2203	4300	6503	SO:0001583	missense	4938			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.388C>T	12.37:g.113346548C>T	ENSP00000202917:p.Arg130Cys		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926322	0.52759	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	4.31	2.4	0.29515	.	0.563411	0.15923	N	0.238042	T	0.34919	0.0914	M	0.91510	3.215	0.22581	N	0.998969	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	0.995;0.993;0.991;0.996;0.993;0.988	T	0.13072	-1.0523	10	0.87932	D	0	-25.987	5.0945	0.14725	0.2056:0.6858:0.0:0.1087	.	130;130;130;130;130;130	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	C	130;130;130;130;130;130;130;126	ENSP00000202917:R130C;ENSP00000388001:R130C;ENSP00000415721:R130C;ENSP00000448790:R130C;ENSP00000448001:R130C;ENSP00000448348:R126C	ENSP00000202917:R130C	R	+	1	0	OAS1	111830931	0.151000	0.22747	0.204000	0.23530	0.009000	0.06853	0.901000	0.28445	0.541000	0.28827	0.455000	0.32223	CGT		0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			T	113346548	C	T	113346548	3	4	43	1	0	0	0	0	1	0	0	0	10799	652	23	1	394	1	OAS1	12	113346548	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2955553	113346548	20505347	658	3835											
RASAL1	8437	ucsc.edu	37	chr12	113554915	113554915	+	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	tctgggaaagggcaggaggcGgaaccagcctttaggtggct	9	7	17	8	1	1	0	0	0	1	0	1	3	1	3	2	7	2	2	2	7	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113554915G>A	ENST00000261729.5	-	9	1009	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	RASAL1_ENST00000546530.1_Missense_Mutation_p.R232C|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R232C|RASAL1_ENST00000446861.3_Missense_Mutation_p.R232C			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	232					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						GGCAGGAGGCGGAACCAGCCT	0.627																																						.											0													53	50	51					12																	113554915		2203	4300	6503	SO:0001583	missense	8437			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.694C>T	12.37:g.113554915G>A	ENSP00000261729:p.Arg232Cys		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839684	0.91117	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.58	5.58	0.84498	C2 calcium/lipid-binding domain, CaLB (1);	0.055459	0.64402	D	0.000001	D	0.87951	0.6307	L	0.56769	1.78	0.54753	D	0.999989	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	0.79784	0.977;0.977;0.99;0.977;0.969;0.993;0.99	D	0.86489	0.1796	10	0.39692	T	0.17	.	18.3457	0.90321	0.0:0.0:1.0:0.0	.	232;232;232;244;232;232;232	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	C	232	ENSP00000450244:R232C;ENSP00000261729:R232C;ENSP00000395920:R232C;ENSP00000448510:R232C	ENSP00000261729:R232C	R	-	1	0	RASAL1	112039298	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.605000	0.54088	2.611000	0.88343	0.655000	0.94253	CGC		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113554915	G	A	113554915	3	1	43	1	0	0	0	0	1	0	0	0	13063	1116	39	1	1776	1	RASAL1	12	113554915	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	208367	113554915	20296980	659	3836											
PLBD2	196463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	113825669	113825669	+	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	gccaatggctcctaccccttCcaggccctgcgtcagcgctc	5	8	9	19	2	1	0	1	0	0	0	4	0	3	0	6	2	3	2	6	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113825669C>A	ENST00000280800.3	+	11	1591	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	PLBD2_ENST00000545182.2_Missense_Mutation_p.F488L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	520					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						CCTACCCCTTCCAGGCCCTGC	0.632																																						.											0													146	145	145					12																	113825669		2203	4300	6503	SO:0001583	missense	196463			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.1560C>A	12.37:g.113825669C>A	ENSP00000280800:p.Phe520Leu		F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067603	0.36470	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.17370	2.28;2.28	5.07	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.56340	1.77	0.29869	N	0.826998	P;P	0.37525	0.598;0.528	B;B	0.41374	0.355;0.274	T	0.06285	-1.0835	10	0.51188	T	0.08	-34.3898	8.5231	0.33289	0.0:0.6392:0.0:0.3608	.	488;520	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	L	488;520	ENSP00000443463:F488L;ENSP00000280800:F520L	ENSP00000280800:F520L	F	+	3	2	PLBD2	112310052	1.000000	0.71417	0.972000	0.41901	0.529000	0.34654	1.313000	0.33585	1.251000	0.43983	0.555000	0.69702	TTC		0.632	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		A	113825669	C	A	113825669	3	1	43	1	0	0	0	0	1	0	0	0	12026	854	30	5	1602	5	PLBD2	12	113825669	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	270754	113825669	20026226	660	3837											
TAOK3	51347	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	118588925	118588925	+	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	aataggttctttattctctcGctgcgttccttctgaagggc	6	16	9	10	2	3	1	0	1	3	0	6	1	4	1	1	2	1	3	1	2	4	7	rs539247810	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:118588925G>A	ENST00000392533.3	-	21	3064	c.2574C>T	c.(2572-2574)agC>agT	p.S858S	TAOK3_ENST00000537952.1_Silent_p.S398S|TAOK3_ENST00000536979.1_Silent_p.S53S|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000419821.2_Silent_p.S858S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	858					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)					TTATTCTCTCGCTGCGTTCCT	0.458													G|||	8	0.00159744	0	0	5008	,	,		16400	0		0	False		,,,				2504	0.0082					.											0													125	126	125					12																	118588925		2203	4300	6503	SO:0001819	synonymous_variant	51347			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.2574C>T	12.37:g.118588925G>A			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	CCDS9188.1																																																																																				0.458	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		A	118588925	G	A	118588925	2	1	43	1	0	0	0	0	0	0	0	1	15546	1078	38	1		1	TAOK3	12	118588925	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4763256	118588925	15262970	661	3838											
CCDC60	160777	broad.mit.edu;hgsc.bcm.edu	37	chr12	119968788	119968788	+	Nonsense_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	aaaacctggacttgcggattCgaccccatgtcctcctgaag	10	9	9	13	2	0	1	0	1	0	0	3	4	2	3	5	2	2	0	5	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:119968788C>T	ENST00000327554.2	+	13	1936	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	491										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)		CTTGCGGATTCGACCCCATGT	0.522																																						.											0													126	108	114					12																	119968788		2203	4300	6503	SO:0001587	stop_gained	160777			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.1471C>T	12.37:g.119968788C>T	ENSP00000333374:p.Arg491*			Nonsense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	42	9.525726	0.99195	.	.	ENSG00000183273	ENST00000327554	.	.	.	5.55	3.67	0.42095	.	0.238775	0.28760	N	0.014230	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.0254	12.2972	0.54854	0.3343:0.6657:0.0:0.0	.	.	.	.	X	491	.	.	R	+	1	2	CCDC60	118453171	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.361000	0.34136	0.624000	0.30286	0.655000	0.94253	CGA		0.522	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		T	119968788	C	T	119968788	4	4	43	1	0	0	0	0	0	1	0	0	2831	876	31	1	1521	1	CCDC60	12	119968788	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1379863	119968788	13883107	662	3839											
CIT	11113	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	120150093	120150093	+	Missense_Mutation	SNP	T	T	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	gggagctagcaagtagagggTtctcccgggccagcaggtgg	8	6	18	9	1	1	1	0	0	1	1	2	2	1	2	2	5	3	5	2	5	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:120150093T>C	ENST00000261833.7	-	36	4670	c.4618A>G	c.(4618-4620)Acc>Gcc	p.T1540A	CIT_ENST00000392521.2_Missense_Mutation_p.T1582A|MIR1178_ENST00000408396.1_RNA|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1540	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		AAGTAGAGGGTTCTCCCGGGC	0.532																																						.											0													199	207	204					12																	120150093		2203	4300	6503	SO:0001583	missense	11113			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.4618A>G	12.37:g.120150093T>C	ENSP00000261833:p.Thr1540Ala		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221702	0.39300	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65916	-0.15;-0.18	5.64	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.064498	0.64402	D	0.000006	T	0.54919	0.1888	L	0.47716	1.5	0.40248	D	0.978031	B;B;B	0.21905	0.005;0.062;0.001	B;B;B	0.19148	0.001;0.024;0.003	T	0.54302	-0.8314	10	0.66056	D	0.02	.	11.8488	0.52399	0.1312:0.0:0.0:0.8688	.	1582;1540;1058	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	A	1582;1540	ENSP00000376306:T1582A;ENSP00000261833:T1540A	ENSP00000261833:T1540A	T	-	1	0	CIT	118634476	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.035000	0.41155	0.908000	0.36671	0.533000	0.62120	ACC		0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		C	120150093	T	C	120150093	3	2	43	1	0	0	0	0	1	0	0	0	3438	1725	60	2	1513	2	CIT	12	120150093	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	181305	120150093	13701802	663	3840											
RNF10	9921	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	121000814	121000814	+	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	tcactggtgttgtggctgctCtggaacaactggtgctgatg	6	13	14	8	0	2	1	1	1	1	0	2	2	2	2	0	4	4	4	0	4	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:121000814C>A	ENST00000325954.4	+	8	1656	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M	RNF10_ENST00000413266.2_Missense_Mutation_p.L399M	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	399					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)					TGTGGCTGCTCTGGAACAACT	0.537																																						.											0													142	128	132					12																	121000814		2203	4300	6503	SO:0001583	missense	9921			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.1195C>A	12.37:g.121000814C>A	ENSP00000322242:p.Leu399Met		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053360	0.19907	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266	D;D	0.89875	-2.56;-2.58	5.5	2.57	0.30868	.	0.472617	0.21042	N	0.081155	T	0.79661	0.4484	N	0.25647	0.755	0.30643	N	0.756245	B;B	0.19817	0.039;0.011	B;B	0.19391	0.025;0.007	T	0.70464	-0.4864	10	0.32370	T	0.25	.	7.635	0.28261	0.0:0.6905:0.1449:0.1646	.	399;399	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	M	399	ENSP00000322242:L399M;ENSP00000415682:L399M	ENSP00000322242:L399M	L	+	1	2	RNF10	119485197	0.989000	0.36119	1.000000	0.80357	0.683000	0.39861	0.072000	0.14617	0.453000	0.26858	-0.797000	0.03246	CTG		0.537	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			A	121000814	C	A	121000814	3	1	43	1	0	0	0	0	1	0	0	0	13422	912	32	5	1225	5	RNF10	12	121000814	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	850721	121000814	12851081	664	3841											
SCARB1	949	ucsc.edu	37	chr12	125263104	125263104	+	3'UTR	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	ggtcaggcccagcggccaggCctggctggctcacggtgtcc	4	6	16	15	2	2	0	2	0	0	0	3	0	3	0	4	7	1	2	4	7	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:125263104C>T	ENST00000415380.2	-	0	1805				SCARB1_ENST00000339570.5_Missense_Mutation_p.G477D|SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000546215.1_3'UTR|SCARB1_ENST00000261693.6_3'UTR			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)	AGCGGCCAGGCCTGGCTGGCT	0.706																																						.											0													4	7	6					12																	125263104		1754	3797	5551	SO:0001624	3_prime_UTR_variant	949			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.*21G>A	12.37:g.125263104C>T			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	C	6.791	0.514930	0.12944	.	.	ENSG00000073060	ENST00000339570	T	0.59906	0.23	4.51	2.35	0.29111	.	.	.	.	.	T	0.29716	0.0742	N	0.08118	0	0.09310	N	0.999995	B	0.06786	0.001	B	0.04013	0.001	T	0.23154	-1.0196	9	0.09338	T	0.73	.	5.4703	0.16666	0.0:0.6756:0.0:0.3244	.	477	F8W8N0	.	D	477	ENSP00000343795:G477D	ENSP00000343795:G477D	G	-	2	0	SCARB1	123829057	0.000000	0.05858	0.000000	0.03702	0.208000	0.24298	-0.053000	0.11846	0.182000	0.20032	0.555000	0.69702	GGC		0.706	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		T	125263104	C	T	125263104	1	4	43	0	1	0	0	0	0	0	0	0	13881	739	26	3		3	SCARB1	12	125263104	3'UTR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4262290	125263104	8588791	665	3842											
GPR133	283383	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	131466490	131466490	+	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	tctagaccaatcccttctgcGtatgggggacaggtcatctc	8	11	10	12	1	4	1	1	0	3	1	6	2	5	2	2	3	1	1	2	3	3	3	rs145796361	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:131466490G>A	ENST00000261654.5	+	5	931	c.372G>A	c.(370-372)gcG>gcA	p.A124A	GPR133_ENST00000535015.1_Silent_p.A156A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	124					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)	p.A124A(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCTTCTGCGTATGGGGGAC	0.507													g|||	8	0.00159744	8e-04	0.0043	5008	,	,		18530	0		0.001	False		,,,				2504	0.0031					.											1	Substitution - coding silent(1)	ovary(1)								0,4406		0,0,2203	134	124	127		372	-7.9	0	12	dbSNP_134	127	3,8597	3.7+/-12.6	0,3,4297	yes	coding-synonymous	GPR133	NM_198827.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		124/875	131466490	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.372G>A	12.37:g.131466490G>A			B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1																																																																																				0.507	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131466490	G	A	131466490	2	1	43	1	0	0	0	0	0	0	0	1	6643	1132	40	1		1	GPR133	12	131466490	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6203386	131466490	2385405	666	3843											
EP400	57634	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	132474512	132474512	+	Missense_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	gcacttttattcaccagctcGttagaactgtggtgcgccat	8	13	9	11	2	1	1	1	0	0	1	2	1	1	1	2	1	3	3	2	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:132474512G>A	ENST00000333577.4	+	9	2630	c.2521G>A	c.(2521-2523)Gtt>Att	p.V841I	EP400_ENST00000389562.2_Missense_Mutation_p.V804I|EP400_ENST00000330386.6_Missense_Mutation_p.V805I|EP400_ENST00000389561.2_Missense_Mutation_p.V805I|EP400_ENST00000332482.4_Missense_Mutation_p.V768I			Q96L91	EP400_HUMAN	E1A binding protein p400	841	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				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)		TCACCAGCTCGTTAGAACTGT	0.448																																						.											0													50	48	49					12																	132474512		2203	4300	6503	SO:0001583	missense	57634			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.2521G>A	12.37:g.132474512G>A	ENSP00000333602:p.Val841Ile		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	11.18	1.562698	0.27915	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91351	-2.83;-2.81;-2.81;-2.8;-2.81	5.05	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.77103	2.36	0.38212	D	0.940518	B;B;B;B;B	0.33826	0.104;0.061;0.104;0.038;0.427	B;B;B;B;B	0.25506	0.029;0.029;0.029;0.012;0.061	D	0.88106	0.2822	10	0.35671	T	0.21	.	13.9058	0.63834	0.0745:0.0:0.9255:0.0	.	805;805;804;841;768	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	I	768;841;805;804;768;805;841;805;805	ENSP00000333602:V841I;ENSP00000374212:V805I;ENSP00000374213:V804I;ENSP00000331737:V768I;ENSP00000330620:V805I	ENSP00000330620:V805I	V	+	1	0	EP400	131040465	1.000000	0.71417	0.285000	0.24819	0.212000	0.24457	5.177000	0.65032	1.259000	0.44117	0.561000	0.74099	GTT		0.448	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132474512	G	A	132474512	3	1	43	1	0	0	0	0	1	0	0	0	5149	1145	40	1	2436	1	EP400	12	132474512	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1008022	132474512	1377383	667	3844											
POLE	5426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	133250211	133250211	+	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	gtcctccgggtctagctccaCgggatcatagcctagcttgg	6	10	12	13	2	2	0	1	0	1	0	5	1	5	1	4	3	3	2	4	3	3	4	rs115047349		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:133250211C>T	ENST00000320574.5	-	13	1352	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	POLE_ENST00000535270.1_Missense_Mutation_p.V410M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	437					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)	TCTAGCTCCACGGGATCATAG	0.617								DNA polymerases (catalytic subunits)																														.											0													137	129	132					12																	133250211		2203	4300	6503	SO:0001583	missense	5426				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.1309G>A	12.37:g.133250211C>T	ENSP00000322570:p.Val437Met		Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645576	0.67358	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.47177	4.7;4.7;4.7;0.85	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.76433	2.335	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.59595	0.86;0.815	T	0.68953	-0.5273	10	0.56958	D	0.05	.	19.656	0.95842	0.0:1.0:0.0:0.0	.	410;437	F5H1D6;Q07864	.;DPOE1_HUMAN	M	437;448;410;217;372;55	ENSP00000322570:V437M;ENSP00000406383:V448M;ENSP00000445753:V410M;ENSP00000442519:V217M	ENSP00000322570:V437M	V	-	1	0	POLE	131760284	1.000000	0.71417	0.975000	0.42487	0.086000	0.17979	7.736000	0.84948	2.660000	0.90430	0.305000	0.20034	GTG		0.617	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133250211	C	T	133250211	3	4	43	1	0	0	0	0	1	0	0	0	12196	536	19	1	5699	1	POLE	12	133250211	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	775699	133250211	601684	668	3845											
MPHOSPH8	54737	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr13	20220830	20220830	+	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	aaagaaaagaatttctgaagCcaaagaagaactaaaggagt	22	6	9	4	0	1	5	0	1	1	4	1	6	1	6	1	1	2	0	1	1	10	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:20220830C>T	ENST00000361479.5	+	3	685	c.617C>T	c.(616-618)gCc>gTc	p.A206V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A206V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	206	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATTTCTGAAGCCAAAGAAGAA	0.348																																						.											0													22	24	23					13																	20220830		2198	4296	6494	SO:0001583	missense	54737			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.617C>T	13.37:g.20220830C>T	ENSP00000355388:p.Ala206Val		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	8.054	0.766734	0.15983	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34472	1.38;1.36	6.02	3.3	0.37823	.	0.602723	0.17580	N	0.169162	T	0.17152	0.0412	N	0.13043	0.29	0.21802	N	0.999539	B;B;B	0.17852	0.006;0.01;0.024	B;B;B	0.15052	0.003;0.011;0.012	T	0.30090	-0.9990	10	0.10377	T	0.69	.	5.8271	0.18560	0.0:0.5275:0.2606:0.2119	.	206;206;206	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	V	206	ENSP00000414663:A206V;ENSP00000355388:A206V	ENSP00000355388:A206V	A	+	2	0	MPHOSPH8	19118830	0.115000	0.22152	1.000000	0.80357	0.482000	0.33219	0.744000	0.26245	0.402000	0.25451	0.650000	0.86243	GCC		0.348	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		T	20220830	C	T	20220830	3	4	43	1	0	0	0	0	1	0	0	0	9727	739	26	3	627	3	MPHOSPH8	13	20220830	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		20220830	94949048	669	3846											
SLC7A1	6541	broad.mit.edu;ucsc.edu	37	chr13	30088682	30088682	+	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	ggcatccagggacgcctcctCgctgtgccacaggccatagc	7	6	12	16	2	0	0	0	0	0	0	3	1	2	1	5	3	2	2	5	3	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:30088682C>T	ENST00000380752.5	-	13	2211	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	609					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACGCCTCCTCGCTGTGCCAC	0.667																																						.											0													53	42	46					13																	30088682		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1825G>A	13.37:g.30088682C>T	ENSP00000370128:p.Glu609Lys		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.366122	0.24684	.	.	ENSG00000139514	ENST00000380752	D	0.84873	-1.91	4.27	4.27	0.50696	.	0.457271	0.25520	N	0.030112	T	0.57814	0.2079	N	0.02765	-0.5	0.31206	N	0.699233	P	0.34909	0.475	B	0.23716	0.048	T	0.63033	-0.6727	10	0.05436	T	0.98	.	9.9362	0.41552	0.0:0.9063:0.0:0.0937	.	609	P30825	CTR1_HUMAN	K	609	ENSP00000370128:E609K	ENSP00000370128:E609K	E	-	1	0	SLC7A1	28986682	0.965000	0.33210	0.937000	0.37676	0.968000	0.65278	2.298000	0.43602	2.387000	0.81309	0.561000	0.74099	GAG		0.667	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		T	30088682	C	T	30088682	3	4	43	1	0	0	0	0	1	0	0	0	14692	893	31	1	68	1	SLC7A1	13	30088682	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9867852	30088682	85081196	670	3847											
NBEA	26960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr13	35733452	35733452	+	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	gatagaccaggaagtggtgtAcatgtggaagtacatgatct	13	10	13	5	0	1	2	0	1	1	1	1	5	1	4	1	3	2	2	1	3	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:35733452A>G	ENST00000400445.3	+	22	3678	c.3144A>G	c.(3142-3144)gtA>gtG	p.V1048V	NBEA_ENST00000540320.1_Silent_p.V1048V|NBEA_ENST00000379939.2_Silent_p.V1048V|NBEA_ENST00000310336.4_Silent_p.V1048V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1048					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)		GAAGTGGTGTACATGTGGAAG	0.393																																						.											0													91	87	88					13																	35733452		1895	4128	6023	SO:0001819	synonymous_variant	26960			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.3144A>G	13.37:g.35733452A>G			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.393	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		G	35733452	A	G	35733452	2	3	43	1	0	0	0	0	0	0	0	1	10187	378	14	2		2	NBEA	13	35733452	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	5644770	35733452	79436426	671	3848											
SPG20	23111	broad.mit.edu;ucsc.edu	37	chr13	36909383	36909383	+	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	taaaactcctctccaactgaTgaaaactccccagaatctgt	14	10	4	13	0	2	3	0	2	2	1	5	3	4	3	4	0	3	0	4	0	6	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:36909383T>C	ENST00000451493.1	-	2	802	c.585A>G	c.(583-585)tcA>tcG	p.S195S	SPG20_ENST00000438666.2_Silent_p.S195S|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Silent_p.S195S|SPG20_ENST00000355182.4_Silent_p.S195S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	195					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTCCAACTGATGAAAACTCCC	0.453																																						.											0													66	64	65					13																	36909383		2203	4300	6503	SO:0001819	synonymous_variant	23111			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.585A>G	13.37:g.36909383T>C			O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	CCDS9356.1																																																																																				0.453	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			C	36909383	T	C	36909383	2	2	43	1	0	0	0	0	0	0	0	1	15041	1451	51	4		4	SPG20	13	36909383	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1175931	36909383	78260495	672	3849											
WBP4	11193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	41657033	41657033	+	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	aatctagaaatttaaggcaaCgaggtgatgatcaatagttg	16	11	10	4	1	2	3	1	2	1	1	2	4	2	3	0	2	1	2	0	2	7	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:41657033C>T	ENST00000379487.3	+	10	1514	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	WBP4_ENST00000542082.1_Nonsense_Mutation_p.R351*	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	372					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TTTAAGGCAACGAGGTGATGA	0.378																																						.											0													58	56	57					13																	41657033		2203	4300	6503	SO:0001587	stop_gained	11193			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.1114C>T	13.37:g.41657033C>T	ENSP00000368801:p.Arg372*		B7Z4M2|Q32P29	Nonsense_Mutation	SNP	ENST00000379487.3	37	CCDS9375.1	.	.	.	.	.	.	.	.	.	.	C	39	7.700010	0.98441	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	6.07	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.43841	D	0.996429	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4043	11.7567	0.51880	0.4966:0.5034:0.0:0.0	.	.	.	.	X	372;351	.	ENSP00000368801:R372X	R	+	1	2	WBP4	40555033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.583000	0.53928	1.534000	0.49203	0.655000	0.94253	CGA		0.378	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		T	41657033	C	T	41657033	4	4	43	1	0	0	0	0	0	1	0	0	17258	528	19	1	1152	1	WBP4	13	41657033	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4747650	41657033	73512845	673	3850											
SPERT	220082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	46287927	46287927	+	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	cctccgggaggagaatcgcgCgctgcagcagctgctggagc	7	5	16	13	4	0	1	0	0	0	1	2	4	1	3	2	3	5	5	2	3	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:46287927C>T	ENST00000310521.1	+	3	847	c.767C>T	c.(766-768)gCg>gTg	p.A256V	SPERT_ENST00000378966.3_Missense_Mutation_p.A220V	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	256						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)		GAGAATCGCGCGCTGCAGCAG	0.692																																						.											0													19	17	18					13																	46287927		2187	4290	6477	SO:0001583	missense	220082			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.767C>T	13.37:g.46287927C>T	ENSP00000309189:p.Ala256Val		A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592367	0.46214	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.51071	0.74;0.72	5.27	5.27	0.74061	.	0.099939	0.44483	D	0.000442	T	0.34193	0.0889	L	0.32530	0.975	0.28594	N	0.909472	P;P	0.43352	0.804;0.531	B;B	0.38156	0.266;0.178	T	0.34825	-0.9813	10	0.40728	T	0.16	.	9.7621	0.40539	0.0:0.9087:0.0:0.0913	.	220;256	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	V	256;220	ENSP00000309189:A256V;ENSP00000368249:A220V	ENSP00000309189:A256V	A	+	2	0	SPERT	45185928	0.113000	0.22115	0.988000	0.46212	0.856000	0.48823	2.116000	0.41930	2.735000	0.93741	0.655000	0.94253	GCG		0.692	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		T	46287927	C	T	46287927	3	4	43	1	0	0	0	0	1	0	0	0	15038	768	27	1	777	1	SPERT	13	46287927	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4630894	46287927	68881951	674	3851											
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	chr13	49033915	49033915	+	Frame_Shift_Del	DEL	C	C	-																															catatcatctggacccttttCcagcacaccctgcagaatga																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:49033915delC	ENST00000267163.4	+	20	2190	c.2052delC	c.(2050-2052)ttcfs	p.F684fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	684	Domain B.|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.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGACCCTTTTCCAGCACACCC	0.458		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)																												.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)											97	91	93					13																	49033915		2203	4300	6503	SO:0001589	frameshift_variant	5925	Familial Cancer Database		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.2052delC	13.37:g.49033915delC	ENSP00000267163:p.Phe684fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.458	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49033915	C	-	49033915	7	5	43	1	0	1	0	1	0	0	0	0	13098	854	30	0	2130	0	RB1	13	49033915	Frame_Shift_Del	DEL	C	TCGA-KN-8428-01A-11D-2310-10	2745988	49033915	66135963	675	3852	99	2									
RB1	5925	bcgsc.ca	37	chr13	49033916	49033916	+	Frame_Shift_Del	DEL	C	C	-																															atatcatctggacccttttcCagcacaccctgcagaatgag																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:49033916delC	ENST00000267163.4	+	20	2191	c.2053delC	c.(2053-2055)cagfs	p.Q685fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	685	Domain B.|Pocket; binds T and E1A.		Q -> P (in RB). {ECO:0000269|PubMed:7795591}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.Q685*(2)		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)"	GACCCTTTTCCAGCACACCCT	0.458		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)																												.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(11)|Substitution - Nonsense(2)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|stomach(1)|liver(1)	GRCh37	CM016044	RB1	M							94	90	91					13																	49033916		2203	4300	6503	SO:0001589	frameshift_variant	5925	Familial Cancer Database		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.2053delC	13.37:g.49033916delC	ENSP00000267163:p.Gln685fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.458	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49033916	C	-	49033916	7	5	43	1	0	1	0	1	0	0	0	0	13098	595	21	0	2131	0	RB1	13	49033916	Frame_Shift_Del	DEL	C	TCGA-KN-8428-01A-11D-2310-10	1	49033916	66135962	676	3853	99	2									
DIS3	22894	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr13	73348179	73348179	+	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	tgtaggcttcaacattttctCgcttacagcagtcttaagct	9	15	7	10	1	3	0	1	0	2	0	4	0	3	0	0	1	4	5	0	1	4	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:73348179C>T	ENST00000377767.4	-	7	1106	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	DIS3_ENST00000545453.1_Missense_Mutation_p.E174K|DIS3_ENST00000377780.4_Missense_Mutation_p.E306K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	336					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AACATTTTCTCGCTTACAGCA	0.343										Multiple Myeloma(4;0.011)																												.											0													97	97	97					13																	73348179		2202	4300	6502	SO:0001583	missense	22894			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.1006G>A	13.37:g.73348179C>T	ENSP00000366997:p.Glu336Lys		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141048	0.37825	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.40476	1.03;1.03;1.03	5.8	5.8	0.92144	.	0.528815	0.22419	N	0.060314	T	0.23210	0.0561	N	0.16307	0.4	0.34150	D	0.667477	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.27571	-1.0070	10	0.08837	T	0.75	.	9.0011	0.36083	0.0:0.8765:0.0:0.1235	.	306;336	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	336;306;174	ENSP00000366997:E336K;ENSP00000367011:E306K;ENSP00000440058:E174K	ENSP00000366997:E336K	E	-	1	0	DIS3	72246180	0.999000	0.42202	0.900000	0.35374	0.851000	0.48451	4.910000	0.63321	2.737000	0.93849	0.563000	0.77884	GAG		0.343	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		T	73348179	C	T	73348179	3	4	43	1	0	0	0	0	1	0	0	0	4535	893	31	1	1930	1	DIS3	13	73348179	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	24314263	73348179	41821699	677	3854											
HS6ST3	266722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	97484970	97484970	+	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	tggctaacaatcgccaggtgCgcatgctggctgacctcagc	8	8	12	13	2	1	1	1	1	0	0	2	1	1	1	2	3	4	4	2	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:97484970C>T	ENST00000376705.2	+	2	958	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	312					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCGCCAGGTGCGCATGCTGGC	0.527																																						.											0													77	72	74					13																	97484970		2203	4300	6503	SO:0001583	missense	266722			AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"Sulfotransferases, membrane-bound"	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.934C>T	13.37:g.97484970C>T	ENSP00000365895:p.Arg312Cys		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788595	0.90367	.	.	ENSG00000185352	ENST00000376705	T	0.42131	0.98	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78532	-0.2168	10	0.87932	D	0	-28.732	19.7149	0.96113	0.0:1.0:0.0:0.0	.	312	Q8IZP7	H6ST3_HUMAN	C	312	ENSP00000365895:R312C	ENSP00000365895:R312C	R	+	1	0	HS6ST3	96282971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.648000	0.89879	0.650000	0.86243	CGC		0.527	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		T	97484970	C	T	97484970	3	4	43	1	0	0	0	0	1	0	0	0	7372	768	27	1	940	1	HS6ST3	13	97484970	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	24136791	97484970	17684908	678	3855											
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	113530121	113530121	+	Missense_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	actaccagaggatgtactacGtgttcatccagatgctgtcc	10	11	9	11	1	1	2	1	0	0	2	3	3	3	3	3	1	4	3	3	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:113530121G>A	ENST00000487903.1	+	28	3281	c.3193G>A	c.(3193-3195)Gtg>Atg	p.V1065M	ATP11A_ENST00000283558.8_Missense_Mutation_p.V1065M|ATP11A_ENST00000375630.2_Missense_Mutation_p.V1065M|ATP11A_ENST00000375645.3_Missense_Mutation_p.V1065M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1065					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)				GATGTACTACGTGTTCATCCA	0.617																																						.											0													87	81	83					13																	113530121		2203	4300	6503	SO:0001583	missense	23250			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.3193G>A	13.37:g.113530121G>A	ENSP00000420387:p.Val1065Met		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529398	0.64860	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65140	0.932;0.932	T	0.74450	-0.3661	10	0.51188	T	0.08	.	17.8446	0.88725	0.0:0.0:1.0:0.0	.	1065;1065	E9PEJ6;P98196	.;AT11A_HUMAN	M	1065;1065;1065;1065;57	ENSP00000420387:V1065M;ENSP00000364781:V1065M;ENSP00000364796:V1065M;ENSP00000283558:V1065M;ENSP00000410824:V57M	ENSP00000283558:V1065M	V	+	1	0	ATP11A	112578122	1.000000	0.71417	0.985000	0.45067	0.068000	0.16541	8.990000	0.93510	2.198000	0.70561	0.561000	0.74099	GTG		0.617	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113530121	G	A	113530121	3	1	43	1	0	0	0	0	1	0	0	0	1119	1145	40	1	3303	1	ATP11A	13	113530121	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16045151	113530121	1639757	679	3856											
RASA3	22821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr13	114780772	114780772	+	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	caccccagactcagtgatggCgtggaagacgcggtccacat	10	6	12	13	3	1	3	1	1	0	2	2	4	2	4	3	3	0	0	3	3	1	0	rs370539205		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:114780772C>T	ENST00000334062.7	-	14	1439	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	RASA3_ENST00000389544.4_Missense_Mutation_p.A408T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	440	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)			TCAGTGATGGCGTGGAAGACG	0.647																																						.											0								C	THR/ALA	0,4406		0,0,2203	117	100	106		1318	3.3	0	13		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASA3	NM_007368.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	440/835	114780772	1,13005	2203	4300	6503	SO:0001583	missense	22821				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.1318G>A	13.37:g.114780772C>T	ENSP00000335029:p.Ala440Thr		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720226	0.30503	0.0	1.16E-4	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.80214	-1.35;-1.35	5.07	3.34	0.38264	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.267542	0.35936	N	0.002897	T	0.70535	0.3235	L	0.34521	1.04	0.80722	D	1	B	0.09022	0.002	B	0.28784	0.094	T	0.59016	-0.7533	9	.	.	.	.	10.2263	0.43227	0.0:0.834:0.0:0.166	.	440	Q14644	RASA3_HUMAN	T	440;408	ENSP00000335029:A440T;ENSP00000374195:A408T	.	A	-	1	0	RASA3	113798874	0.991000	0.36638	0.002000	0.10522	0.010000	0.07245	2.982000	0.49337	0.526000	0.28541	0.591000	0.81541	GCC		0.647	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		T	114780772	C	T	114780772	3	4	43	1	0	0	0	0	1	0	0	0	13062	768	27	1	1230	1	RASA3	13	114780772	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1250651	114780772	389106	680	3857											
OR4K13	390433	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	20502143	20502143	+	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	gtatctgctgaagggccagaCgtagataaagacacacggag	14	6	13	8	2	1	4	0	1	1	3	1	5	1	5	1	2	1	3	1	2	5	3	rs199734457		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20502143C>T	ENST00000315693.2	-	1	776	c.775G>A	c.(775-777)Gtc>Atc	p.V259I	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	259						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)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGGGCCAGACGTAGATAAAG	0.403																																						.											0													91	83	86					14																	20502143		2203	4300	6503	SO:0001583	missense	390433				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.775G>A	14.37:g.20502143C>T	ENSP00000319322:p.Val259Ile		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	0.132	-1.112246	0.01799	.	.	ENSG00000176253	ENST00000315693	T	0.36699	1.24	3.46	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.230090	0.21786	U	0.069139	T	0.21631	0.0521	N	0.25060	0.705	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.16305	-1.0407	10	0.33940	T	0.23	.	8.2777	0.31881	0.177:0.6517:0.1713:0.0	.	259	Q8NH42	OR4KD_HUMAN	I	259	ENSP00000319322:V259I	ENSP00000319322:V259I	V	-	1	0	OR4K13	19571983	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-1.254000	0.02874	0.137000	0.18759	0.514000	0.50259	GTC		0.403	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			T	20502143	C	T	20502143	3	4	43	1	0	0	0	0	1	0	0	0	11068	536	19	1	141	1	OR4K13	14	20502143	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		20502143	86847397	681	3858											
TTC5	91875	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	20763923	20763923	+	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	ttccagaagttgttgctctcGttgccggggctctggccagg	4	12	14	11	2	2	1	0	0	2	1	4	1	3	1	3	4	2	5	3	4	1	4	rs199831317		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20763923G>A	ENST00000258821.3	-	7	843	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	263					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TGTTGCTCTCGTTGCCGGGGC	0.483																																						.											0																																										SO:0001587	stop_gained	91875			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.787C>T	14.37:g.20763923G>A	ENSP00000258821:p.Arg263*		A8MQ18|Q96HF9	Nonsense_Mutation	SNP	ENST00000258821.3	37	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.344399|5.344399	0.95807|0.95807	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000258821|ENST00000423949	.|.	.|.	.|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.058488|.	0.64402|.	D|.	0.000003|.	.|T	.|0.55577	.|0.1929	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64296	.|-0.6441	.|3	0.07030|.	T|.	0.85|.	.|.	11.1516|11.1516	0.48462|0.48462	0.0:0.0:0.7045:0.2955|0.0:0.0:0.7045:0.2955	.|.	.|.	.|.	.|.	X|M	263|207	.|.	ENSP00000258821:R263X|.	R|T	-|-	1|2	2|0	TTC5|TTC5	19833763|19833763	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	2.883000|2.883000	0.48554|0.48554	2.459000|2.459000	0.83118|0.83118	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.483	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		A	20763923	G	A	20763923	4	1	43	1	0	0	0	0	0	1	0	0	16708	1153	40	1	551	1	TTC5	14	20763923	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	261780	20763923	86585617	682	3859											
TEP1	7011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	20854663	20854663	+	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	ggaggtcgattccgtgaaggCtgatacggtgaggggccgct	7	8	18	8	4	0	3	0	3	0	0	2	5	1	4	2	6	1	2	2	6	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20854663C>A	ENST00000262715.5	-	19	2844	c.2804G>T	c.(2803-2805)aGc>aTc	p.S935I	TEP1_ENST00000556935.1_Missense_Mutation_p.S827I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	935					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCGTGAAGGCTGATACGGTG	0.637																																						.											0													44	39	41					14																	20854663		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2804G>T	14.37:g.20854663C>A	ENSP00000262715:p.Ser935Ile		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139513	0.37728	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.43294	0.95;0.95	5.21	3.35	0.38373	.	0.534882	0.22064	N	0.065124	T	0.42314	0.1197	L	0.31420	0.93	0.49299	D	0.999771	P;D;P	0.58620	0.815;0.983;0.934	B;P;P	0.56700	0.387;0.804;0.617	T	0.34725	-0.9817	10	0.72032	D	0.01	-7.6996	8.1729	0.31264	0.0:0.4663:0.447:0.0867	.	827;285;935	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	I	935;935;827	ENSP00000262715:S935I;ENSP00000452574:S827I	ENSP00000262715:S935I	S	-	2	0	TEP1	19924503	0.948000	0.32251	0.939000	0.37840	0.011000	0.07611	1.342000	0.33919	1.168000	0.42723	-0.176000	0.13171	AGC		0.637	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20854663	C	A	20854663	3	1	43	1	0	0	0	0	1	0	0	0	15756	797	28	5	5227	5	TEP1	14	20854663	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	90740	20854663	86494877	683	3860											
OR5AU1	390445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	21623218	21623218	+	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	gtagatgacagcaactgtgcGgtcctgggtcaaggagtagc	10	8	15	8	1	1	2	1	1	0	1	2	3	2	3	1	3	4	3	1	3	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:21623218G>A	ENST00000304418.3	-	1	1004	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCAACTGTGCGGTCCTGGGTC	0.498																																						.											0													115	107	110					14																	21623218		2203	4300	6503	SO:0001583	missense	390445			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.967C>T	14.37:g.21623218G>A	ENSP00000302057:p.Arg323Cys		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276421	0.23307	.	.	ENSG00000169327	ENST00000304418	T	0.00130	8.69	4.48	0.337	0.15966	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.70787	2.145	0.09310	N	0.999999	D	0.64830	0.994	P	0.58820	0.846	T	0.48864	-0.8997	9	0.87932	D	0	.	0.8644	0.01200	0.288:0.1586:0.3903:0.1631	.	323	Q8NGC0	O5AU1_HUMAN	C	323	ENSP00000302057:R323C	ENSP00000302057:R323C	R	-	1	0	OR5AU1	20693058	0.049000	0.20398	0.105000	0.21289	0.031000	0.12232	0.129000	0.15830	0.505000	0.28104	0.491000	0.48974	CGC		0.498	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			A	21623218	G	A	21623218	3	1	43	1	0	0	0	0	1	0	0	0	11147	1116	39	1	124	1	OR5AU1	14	21623218	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	768555	21623218	85726322	684	3861											
SUPT16H	11198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr14	21834651	21834651	+	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	ggcttctgctttttaaccacGtccatgacagcgttatacac	9	13	7	12	2	1	1	0	1	1	0	2	1	2	1	2	1	4	3	2	1	3	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:21834651G>A	ENST00000216297.2	-	8	1331	c.993C>T	c.(991-993)gaC>gaT	p.D331D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	331					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)		TTTTAACCACGTCCATGACAG	0.353																																						.											0													234	212	219					14																	21834651		2203	4300	6503	SO:0001819	synonymous_variant	11198			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.993C>T	14.37:g.21834651G>A			Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	CCDS9569.1																																																																																				0.353	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			A	21834651	G	A	21834651	2	1	43	1	0	0	0	0	0	0	0	1	15393	1136	40	1		1	SUPT16H	14	21834651	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	211433	21834651	85514889	685	3862											
ACIN1	22985	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	23530539	23530539	+	Missense_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	tcttcttttctttagacttcGcacgttccttgcggcggcgg	3	16	10	12	5	3	1	0	0	3	1	5	1	4	1	1	3	1	2	1	3	1	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:23530539G>A	ENST00000262710.1	-	17	3893	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	ACIN1_ENST00000557515.1_Missense_Mutation_p.A430V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A462V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A431V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1131V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1176V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A431V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1149V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1189	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)		TTTAGACTTCGCACGTTCCTT	0.562																																						.											0													185	190	188					14																	23530539		2203	4300	6503	SO:0001583	missense	22985			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.3566C>T	14.37:g.23530539G>A	ENSP00000262710:p.Ala1189Val		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553228	0.65425	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43	4.79	3.89	0.44902	.	0.000000	0.39341	N	0.001387	T	0.04543	0.0124	L	0.34521	1.04	0.37513	D	0.917249	P;P;B;B;B	0.37500	0.597;0.462;0.231;0.022;0.086	B;B;B;B;B	0.22753	0.041;0.018;0.01;0.005;0.005	T	0.50162	-0.8860	10	0.33141	T	0.24	-10.8231	12.5296	0.56106	0.0831:0.0:0.9169:0.0	.	1176;1189;1149;462;431	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	V	430;462;431;1189;1149;431;1176	ENSP00000451138:A430V;ENSP00000345541:A462V;ENSP00000350073:A431V;ENSP00000262710:A1189V;ENSP00000405677:A1149V;ENSP00000380502:A431V;ENSP00000451328:A1176V	ENSP00000262710:A1189V	A	-	2	0	ACIN1	22600379	0.968000	0.33430	0.923000	0.36655	0.736000	0.42039	2.188000	0.42612	1.358000	0.45922	0.563000	0.77884	GCG		0.562	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		A	23530539	G	A	23530539	3	1	43	1	0	0	0	0	1	0	0	0	142	1087	38	1	471	1	ACIN1	14	23530539	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1695888	23530539	83819001	686	3863											
SLC7A8	23428	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	23596496	23596496	+	Missense_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	ctcctctgtccctgagccccGctccacctcggggtacacga	5	8	9	19	3	1	1	0	1	1	0	5	2	4	1	6	2	2	2	6	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:23596496G>A	ENST00000316902.7	-	11	2223	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	SLC7A8_ENST00000422941.2_Missense_Mutation_p.R276W|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R297W|SLC7A8_ENST00000469263.1_Missense_Mutation_p.A282V|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R395W	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	500					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCTGAGCCCCGCTCCACCTCG	0.592																																						.											0													197	149	165					14																	23596496		2203	4300	6503	SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1498C>T	14.37:g.23596496G>A	ENSP00000320378:p.Arg500Trp		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.09|13.09|13.09	2.131992|2.131992|2.131992	0.37630|0.37630|0.37630	.|.|.	.|.|.	ENSG00000092068|ENSG00000092068|ENSG00000092068	ENST00000206514|ENST00000469263|ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941	.|D|D;D;D;D	.|0.92249|0.90385	.|-3.0|-2.66;-2.18;-2.49;-2.16	3.88|3.88|3.88	0.298|0.298|0.298	0.15766|0.15766|0.15766	.|.|.	.|.|1.355130	.|.|0.04310	.|.|N	.|.|0.348721	.|T|T	.|0.81479|0.81479	.|0.4831|0.4831	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B|D;P;P	.|0.13145|0.53312	.|0.007|0.959;0.927;0.587	.|B|B;B;B	.|0.08055|0.44163	.|0.003|0.443;0.113;0.023	.|T|T	.|0.73148|0.73148	.|-0.4074|-0.4074	.|9|10	.|0.87932|0.66056	.|D|D	.|0|0.02	.|.|.	4.4348|4.4348|4.4348	0.11545|0.11545|0.11545	0.0:0.399:0.3526:0.2484|0.0:0.399:0.3526:0.2484|0.0:0.399:0.3526:0.2484	.|.|.	.|282|395;276;500	.|E9PLV9|B4DKT4;B4DTV6;Q9UHI5	.|.|.;.;LAT2_HUMAN	.|V|W	-1|282|500;297;395;276	.|ENSP00000435114:A282V|ENSP00000320378:R500W;ENSP00000391577:R297W;ENSP00000434345:R395W;ENSP00000416398:R276W	.|ENSP00000435114:A282V|ENSP00000320378:R500W	.|A|R	-|-|-	.|2|1	.|0|2	SLC7A8|SLC7A8|SLC7A8	22666336|22666336|22666336	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.007000|0.007000|0.007000	0.05969|0.05969|0.05969	0.185000|0.185000|0.185000	0.16958|0.16958|0.16958	-0.297000|-0.297000|-0.297000	0.08934|0.08934|0.08934	-0.410000|-0.410000|-0.410000	0.06199|0.06199|0.06199	.|GCG|CGG		0.592	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			A	23596496	G	A	23596496	3	1	43	1	0	0	0	0	1	0	0	0	14704	1086	38	1	113	1	SLC7A8	14	23596496	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	65957	23596496	83753044	687	3864											
LRRC16B	90668	broad.mit.edu	37	chr14	24529235	24529235	+	Missense_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	cgacatctcccaagcctatcGcagcgcgcctgagcgcaccg	8	5	10	18	6	1	1	0	1	1	0	3	2	1	1	4	0	3	2	4	0	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24529235G>A	ENST00000342740.5	+	23	2079	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	642						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)		CAAGCCTATCGCAGCGCGCCT	0.657																																						.											0													142	124	130					14																	24529235		2203	4300	6503	SO:0001583	missense	90668			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.1925G>A	14.37:g.24529235G>A	ENSP00000340467:p.Arg642His		Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314513	0.60524	.	.	ENSG00000186648	ENST00000342740	T	0.50001	0.76	4.52	4.52	0.55395	.	0.067934	0.64402	D	0.000013	T	0.36963	0.0986	L	0.53249	1.67	0.80722	D	1	P	0.35011	0.48	B	0.23852	0.049	T	0.41752	-0.9491	10	0.72032	D	0.01	-2.2737	8.3812	0.32472	0.1048:0.0:0.8952:0.0	.	642	Q8ND23	LR16B_HUMAN	H	642	ENSP00000340467:R642H	ENSP00000340467:R642H	R	+	2	0	LRRC16B	23599075	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.311000	0.65786	2.331000	0.79229	0.561000	0.74099	CGC		0.657	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		A	24529235	G	A	24529235	3	1	43	1	0	0	0	0	1	0	0	0	8972	1087	38	1	2015	1	LRRC16B	14	24529235	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	932739	24529235	82820305	688	3865											
PSME2	5721	broad.mit.edu	37	chr14	24615753	24615753	+	Missense_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	tccccattacctgtttgcggGcttccccgctcaggcgcacc	4	10	9	18	3	1	0	1	0	0	0	3	0	3	0	6	2	2	4	6	2	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24615753G>A	ENST00000216802.5	-	1	677	c.38C>T	c.(37-39)gCc>gTc	p.A13V	RNF31_ENST00000559275.1_5'Flank|RNF31_ENST00000324103.6_5'Flank|PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.A13V|RNF31_ENST00000382687.3_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	13					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)		CTGTTTGCGGGCTTCCCCGCT	0.627																																						.											0													72	70	71					14																	24615753		2203	4300	6503	SO:0001583	missense	5721				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.38C>T	14.37:g.24615753G>A	ENSP00000216802:p.Ala13Val		Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392027	0.62066	.	.	ENSG00000100911	ENST00000216802	T	0.42900	0.96	5.22	5.22	0.72569	Proteasome activator pa28, REG alpha subunit (2);	0.421812	0.27004	N	0.021411	T	0.27832	0.0685	N	0.19112	0.55	0.34426	D	0.697993	B	0.06786	0.001	B	0.11329	0.006	T	0.25257	-1.0137	10	0.14656	T	0.56	-30.1892	14.1557	0.65417	0.0:0.0:1.0:0.0	.	13	Q9UL46	PSME2_HUMAN	V	13	ENSP00000216802:A13V	ENSP00000216802:A13V	A	-	2	0	PSME2	23685593	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.980000	0.49321	2.714000	0.92807	0.561000	0.74099	GCC		0.627	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		A	24615753	G	A	24615753	3	1	43	1	0	0	0	0	1	0	0	0	12707	1203	42	3	725	3	PSME2	14	24615753	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	86518	24615753	82733787	689	3866											
TSSK4	283629	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	24675808	24675808	+	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	tcattctggaactggctcagGgtggtgatgtccttgaatgg	7	13	14	7	0	3	2	2	2	1	0	4	3	4	3	1	5	1	1	1	5	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24675808G>A	ENST00000287913.6	+	2	487	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	TSSK4_ENST00000339917.5_Missense_Mutation_p.G107S|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.G31S|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		ACTGGCTCAGGGTGGTGATGT	0.547																																						.											0													151	128	136					14																	24675808		2203	4300	6503	SO:0001583	missense	283629			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"chromosome 14 open reading frame 20"	610711	"serine/threonine kinase 22E"	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.319G>A	14.37:g.24675808G>A	ENSP00000287913:p.Gly107Ser		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.939586|2.939586	0.52972|0.52972	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000555092|ENST00000339917;ENST00000556621;ENST00000287913	.|T;T;T	.|0.32988	.|1.43;1.43;1.43	4.97|4.97	4.97|4.97	0.65823|0.65823	.|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|0.000000	0.52532|0.52532	D|D	0.000068|0.000068	T|T	0.40272|0.40272	0.1110|0.1110	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|P;P	.|0.37423	.|0.539;0.594	.|B;P	.|0.45167	.|0.341;0.472	T|T	0.23691|0.23691	-1.0181|-1.0181	6|10	.|0.45353	.|T	.|0.12	.|.	10.7571|10.7571	0.46243|0.46243	0.0:0.0:0.8106:0.1894|0.0:0.0:0.8106:0.1894	.|.	.|107;107	.|Q6SA08-2;Q6SA08	.|.;TSSK4_HUMAN	E|S	101|107;31;107	.|ENSP00000339179:G107S;ENSP00000452054:G31S;ENSP00000287913:G107S	.|ENSP00000287913:G107S	G|G	+|+	2|1	0|0	TSSK4|TSSK4	23745648|23745648	0.486000|0.486000	0.25980|0.25980	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.702000|1.702000	0.37836|0.37836	2.583000|2.583000	0.87209|0.87209	0.462000|0.462000	0.41574|0.41574	GGG|GGT		0.547	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		A	24675808	G	A	24675808	3	1	43	1	0	0	0	0	1	0	0	0	16668	1232	43	3	325	3	TSSK4	14	24675808	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	60055	24675808	82673732	690	3867											
TINF2	26277	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	24709841	24709841	+	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	gaaacagcatgactgtggggCgctccttatggcctccccta	8	9	11	13	1	0	1	0	1	0	0	2	2	2	1	4	3	2	2	4	3	3	2	rs121918544		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24709841C>T	ENST00000267415.7	-	6	1186	c.845G>A	c.(844-846)cGc>cAc	p.R282H	TINF2_ENST00000538777.1_Missense_Mutation_p.R68H|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_Missense_Mutation_p.R282H|TINF2_ENST00000540705.1_Missense_Mutation_p.R247H|TINF2_ENST00000559019.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	282			R -> H (in DKCA3 and DKCA5). {ECO:0000269|PubMed:18252230}.|R -> S (in DKCA3). {ECO:0000269|PubMed:18252230}.		negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GACTGTGGGGCGCTCCTTATG	0.552									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													.											0			GRCh37	CM080574	TINF2	M	rs121918544						72	69	70					14																	24709841		1959	4153	6112	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.845G>A	14.37:g.24709841C>T	ENSP00000267415:p.Arg282His		B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084034	0.55861	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423;ENST00000538777	D;D;D;D	0.94184	-2.97;-2.98;-2.96;-3.37	5.16	5.16	0.70880	.	0.338213	0.29002	N	0.013456	D	0.90830	0.7120	M	0.66939	2.045	0.41571	A	0.988685	P;P	0.41710	0.76;0.76	B;B	0.32533	0.147;0.147	D	0.94700	0.7882	9	0.87932	D	0	-14.2187	14.1675	0.65488	0.0:1.0:0.0:0.0	.	247;282	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	H	282;247;282;68	ENSP00000267415:R282H;ENSP00000442154:R247H;ENSP00000382350:R282H;ENSP00000437495:R68H	ENSP00000267415:R282H	R	-	2	0	TINF2	23779681	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.482000	0.53186	2.404000	0.81709	0.462000	0.41574	CGC		0.552	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			T	24709841	C	T	24709841	3	4	43	1	0	0	0	0	1	0	0	0	15920	768	27	1	530	1	TINF2	14	24709841	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	34033	24709841	82639699	691	3868											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	24877295	24877295	+	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	gctggaggagctggtggggcGactgcgctggggccctgccc	3	6	20	12	2	0	0	0	0	0	0	0	3	0	2	2	7	3	3	2	7	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24877295G>A	ENST00000382554.3	+	3	737	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	140					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.R140Q(1)		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						CTGGTGGGGCGACTGCGCTGG	0.682																																						.											1	Substitution - Missense(1)	prostate(1)											34	40	38					14																	24877295		2027	4175	6202	SO:0001583	missense	57523			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.419G>A	14.37:g.24877295G>A	ENSP00000371994:p.Arg140Gln		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897699	0.72639	.	.	ENSG00000205978	ENST00000382554	T	0.14640	2.49	4.93	4.04	0.47022	.	0.120816	0.27262	N	0.020170	T	0.14270	0.0345	M	0.65975	2.015	0.25000	N	0.991479	B	0.29612	0.251	B	0.21917	0.037	T	0.20273	-1.0280	10	0.87932	D	0	.	7.2114	0.25935	0.194:0.0:0.806:0.0	.	140	Q9P2P1	NYNRI_HUMAN	Q	140	ENSP00000371994:R140Q	ENSP00000371994:R140Q	R	+	2	0	NYNRIN	23947135	0.838000	0.29461	0.923000	0.36655	0.905000	0.53344	2.990000	0.49401	1.297000	0.44761	0.563000	0.77884	CGA		0.682	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24877295	G	A	24877295	3	1	43	1	0	0	0	0	1	0	0	0	10796	1058	37	1	425	1	NYNRIN	14	24877295	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	167454	24877295	82472245	692	3869											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr14	24879316	24879316	+	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	accagcttccagaggtaccaCgaggccctgaatacaccctt	11	7	8	15	1	0	2	0	1	0	1	1	3	1	2	5	2	3	2	5	2	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24879316C>T	ENST00000382554.3	+	4	2634	c.2316C>T	c.(2314-2316)caC>caT	p.H772H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	772					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						AGAGGTACCACGAGGCCCTGA	0.627																																						.											0													47	52	50					14																	24879316		2105	4231	6336	SO:0001819	synonymous_variant	57523			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.2316C>T	14.37:g.24879316C>T			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																				0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24879316	C	T	24879316	2	4	43	1	0	0	0	0	0	0	0	1	10796	535	19	1		1	NYNRIN	14	24879316	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2021	24879316	82470224	693	3870											
HECTD1	25831	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	31609189	31609189	+	Missense_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	ctattaactttcgaattaacGcaactgctggtcgactgcga	11	12	8	10	4	0	0	0	0	0	0	2	3	0	0	0	1	5	2	0	1	5	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:31609189G>A	ENST00000399332.1	-	19	3376	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	HECTD1_ENST00000553700.1_Missense_Mutation_p.A963V|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	963					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)	p.A963_V971delALIRKLIAV(1)		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)		TCGAATTAACGCAACTGCTGG	0.338																																						.											1	Deletion - In frame(1)	breast(1)											123	115	118					14																	31609189		1825	4090	5915	SO:0001583	missense	25831			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.2888C>T	14.37:g.31609189G>A	ENSP00000382269:p.Ala963Val		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125292	0.37533	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.41400	1.0;1.0;1.5	5.89	5.01	0.66863	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.25082	0.0609	L	0.27053	0.805	0.80722	D	1	P;B	0.40250	0.709;0.008	B;B	0.30251	0.113;0.002	T	0.05666	-1.0871	10	0.11182	T	0.66	-13.4886	14.9607	0.71156	0.0681:0.0:0.9319:0.0	.	963;963	D3DS86;Q9ULT8	.;HECD1_HUMAN	V	963;965;963;437	ENSP00000450697:A963V;ENSP00000382269:A963V;ENSP00000451860:A437V	ENSP00000261312:A965V	A	-	2	0	HECTD1	30678940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.738000	0.84966	1.506000	0.48736	0.655000	0.94253	GCG		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			A	31609189	G	A	31609189	3	1	43	1	0	0	0	0	1	0	0	0	7039	1087	38	1	5044	1	HECTD1	14	31609189	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6729873	31609189	75740351	694	3871											
NPAS3	64067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr14	34145548	34145548	+	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	ggcactgctgaggacggagcCagctcagcatcttcctcctc	7	8	11	15	1	2	1	1	1	1	0	5	3	4	3	3	3	4	4	3	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:34145548C>T	ENST00000356141.4	+	6	690	c.690C>T	c.(688-690)gcC>gcT	p.A230A	NPAS3_ENST00000548645.1_Silent_p.A200A|NPAS3_ENST00000551008.1_Silent_p.A128A|NPAS3_ENST00000551492.1_Silent_p.A235A|NPAS3_ENST00000346562.2_Silent_p.A198A|NPAS3_ENST00000547068.1_Silent_p.A126A|NPAS3_ENST00000357798.5_Silent_p.A217A|NPAS3_ENST00000341321.4_Silent_p.A230A			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	230					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)		AGGACGGAGCCAGCTCAGCAT	0.622																																						.											0													56	54	55					14																	34145548		2203	4300	6503	SO:0001819	synonymous_variant	64067			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.690C>T	14.37:g.34145548C>T			Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	CCDS53891.1																																																																																				0.622	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			T	34145548	C	T	34145548	2	4	43	1	0	0	0	0	0	0	0	1	10564	581	21	4		4	NPAS3	14	34145548	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2536359	34145548	73203992	695	3872											
SDCCAG1	9147	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr14	50272839	50272839	+	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	cttcagtcaaggtccgtgggGggatgggttctcctagaata	8	11	14	8	1	3	1	2	0	1	1	5	2	4	2	2	5	0	1	2	5	4	4	rs374912149		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:50272839G>A	ENST00000298310.5	-	19	2206	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.P565L|NEMF_ENST00000545773.1_Missense_Mutation_p.P544L			O60524	NEMF_HUMAN	nuclear export mediator factor	586					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GGTCCGTGGGGGGATGGGTTC	0.473																																						.											0								G	LEU/PRO	0,4406		0,0,2203	97	81	86		1757	6	1	14		86	1,8599		0,1,4299	no	missense	NEMF	NM_004713.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	586/1077	50272839	1,13005	2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1757C>T	14.37:g.50272839G>A	ENSP00000298310:p.Pro586Leu		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237392	0.95240	0.0	1.16E-4	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.59083	0.29;0.36;0.45;0.36	6.01	6.01	0.97437	Domain of unknown function DUF814 (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.999;0.999	D	0.86229	0.1636	10	0.66056	D	0.02	-9.9353	20.1162	0.97934	0.0:0.0:1.0:0.0	.	565;561;544;586	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	L	586;544;565;358;544	ENSP00000298310:P586L;ENSP00000438309:P544L;ENSP00000441016:P565L;ENSP00000452540:P544L	ENSP00000298310:P586L	P	-	2	0	NEMF	49342589	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	8.734000	0.91543	2.861000	0.98227	0.650000	0.86243	CCC		0.473	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		A	50272839	G	A	50272839	3	1	43	1	0	0	0	0	1	0	0	0	13957	1232	43	3	1533	3	SDCCAG1	14	50272839	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16127291	50272839	57076701	696	3873											
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	51245506	51245506	+	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	ccgcttcatactcctcactgCgttgcgtcttccagtgctag	5	13	8	15	3	3	0	2	0	1	0	5	0	5	0	3	0	4	3	3	0	2	5	rs190295991	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:51245506C>T	ENST00000382041.3	-	6	642	c.452G>A	c.(451-453)cGc>cAc	p.R151H	NIN_ENST00000245441.5_Missense_Mutation_p.R151H|NIN_ENST00000382043.4_Missense_Mutation_p.R151H|NIN_ENST00000453196.1_Missense_Mutation_p.R151H|NIN_ENST00000389868.3_Missense_Mutation_p.R151H|NIN_ENST00000324330.9_Missense_Mutation_p.R151H|NIN_ENST00000530997.2_Missense_Mutation_p.R151H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	151					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)					CTCCTCACTGCGTTGCGTCTT	0.512			T	PDGFRB	MPD								C|||	3	0.000599042	0	0	5008	,	,		18810	0.003		0	False		,,,				2504	0					.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	133	108	117		452,452,452,452	-5.1	0	14		117	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	151/1378,151/2134,151/2047,151/2091	51245506	2,13004	2203	4300	6503	SO:0001583	missense	51199			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.452G>A	14.37:g.51245506C>T	ENSP00000371472:p.Arg151His		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	15.77	2.930127	0.52759	0.0	2.33E-4	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.3	-5.11	0.02901	.	0.773947	0.12806	N	0.437624	T	0.04588	0.0125	N	0.03115	-0.41	0.09310	N	0.999999	B;B;B;B;B	0.16166	0.01;0.016;0.007;0.0;0.006	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.0;0.001	T	0.29366	-1.0014	10	0.33141	T	0.24	3.2268	7.5949	0.28041	0.0:0.2535:0.2088:0.5377	.	157;151;151;151;151	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	H	151;151;151;151;157;151;151;151;113	ENSP00000245441:R151H;ENSP00000374518:R151H;ENSP00000371474:R151H;ENSP00000371472:R151H;ENSP00000324210:R151H;ENSP00000412391:R151H;ENSP00000398641:R113H	ENSP00000245441:R151H	R	-	2	0	NIN	50315256	0.000000	0.05858	0.012000	0.15200	0.841000	0.47740	-1.605000	0.02074	-0.845000	0.04179	-0.345000	0.07892	CGC		0.512	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51245506	C	T	51245506	3	4	43	1	0	0	0	0	1	0	0	0	10417	768	27	1	6201	1	NIN	14	51245506	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	972667	51245506	56104034	697	3874											
GPR137C	283554	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	53100600	53100600	+	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	gttccagagcttactttttcGacaatccaagacgatatgat	12	13	7	9	2	0	3	0	1	0	2	3	5	2	3	2	0	2	2	2	0	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:53100600G>A	ENST00000321662.6	+	6	1048	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	350						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTACTTTTTCGACAATCCAAG	0.393																																						.											0													121	115	117					14																	53100600		1896	4119	6015	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1048G>A	14.37:g.53100600G>A	ENSP00000315106:p.Asp350Asn		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.280854|5.280854	0.95489|0.95489	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.60797|.	0.16|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72028|0.72028	0.3410|0.3410	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.67476|0.67476	-0.5661|-0.5661	10|5	0.45353|.	T|.	0.12|.	-19.2591|-19.2591	19.8667|19.8667	0.96806|0.96806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	350;179|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	N|Q	350|319	ENSP00000315106:D350N|.	ENSP00000315106:D350N|.	D|R	+|+	1|2	0|0	GPR137C|GPR137C	52170350|52170350	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.988000|0.988000	0.76386|0.76386	9.174000|9.174000	0.94824|0.94824	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.393	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		A	53100600	G	A	53100600	3	1	43	1	0	0	0	0	1	0	0	0	6647	1058	37	1	1070	1	GPR137C	14	53100600	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1855094	53100600	54248940	698	3875											
SYT16	83851	broad.mit.edu;bcgsc.ca	37	chr14	62463128	62463128	+	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	ccaattgggccagtgatgacCgcaagttaccacatgtgctt	10	10	10	11	1	0	2	0	2	0	0	0	2	0	2	4	1	2	3	4	1	3	3	rs533386682		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:62463128C>T	ENST00000430451.2	+	1	588	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	SYT16_ENST00000446982.2_Missense_Mutation_p.R131C	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	131			R -> L (in dbSNP:rs17099370). {ECO:0000269|PubMed:15238157}.		exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CAGTGATGACCGCAAGTTACC	0.502													C|||	1	0.000199681	0	0	5008	,	,		20897	0		0	False		,,,				2504	0.001					.											0													131	122	125					14																	62463128		1905	4122	6027	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.391C>T	14.37:g.62463128C>T	ENSP00000394700:p.Arg131Cys		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	4.550	0.102148	0.08731	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.32272	1.46;3.72	5.45	4.54	0.55810	.	0.450724	0.18822	N	0.130228	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	P;P	0.41978	0.61;0.767	B;B	0.36885	0.235;0.183	T	0.05716	-1.0868	10	0.38643	T	0.18	-9.7901	5.7569	0.18178	0.1541:0.6415:0.1314:0.0729	.	131;131	B4DZH2;Q17RD7	.;SYT16_HUMAN	C	131	ENSP00000388023:R131C;ENSP00000394700:R131C	ENSP00000394700:R131C	R	+	1	0	SYT16	61532881	0.002000	0.14202	0.264000	0.24511	0.256000	0.26092	0.467000	0.22035	1.455000	0.47813	0.655000	0.94253	CGC		0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		T	62463128	C	T	62463128	3	4	43	1	0	0	0	0	1	0	0	0	15469	652	23	1	393	1	SYT16	14	62463128	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9362528	62463128	44886412	699	3876											
ZFYVE1	53349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	73441651	73441651	+	Missense_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	cgttatctttaaaggacgtcGcacacttgttgcagctctgt	8	14	9	10	3	2	0	0	0	2	0	3	1	2	1	0	1	2	5	0	1	3	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:73441651G>A	ENST00000556143.1	-	10	2543	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.A608V|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.A193V|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.A594V|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.A193V	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	608					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGGACGTCGCACACTTGTT	0.527																																						.											0													81	77	78					14																	73441651		2203	4300	6503	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1823C>T	14.37:g.73441651G>A	ENSP00000450742:p.Ala608Val		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644266	0.47258	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	6.17	4.3	0.51218	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.753997	0.13519	N	0.381842	T	0.65842	0.2730	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.31256	0.316;0.126	B;B	0.24006	0.05;0.041	T	0.56932	-0.7897	10	0.54805	T	0.06	-12.6079	9.4951	0.38984	0.0:0.2226:0.4171:0.3602	.	608;608	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	V	608;594;608;193;193	ENSP00000452442:A608V;ENSP00000326921:A594V;ENSP00000450742:A608V;ENSP00000377757:A193V;ENSP00000452232:A193V	ENSP00000326921:A608V	A	-	2	0	ZFYVE1	72511404	0.793000	0.28825	1.000000	0.80357	0.994000	0.84299	1.786000	0.38694	0.880000	0.35969	0.655000	0.94253	GCG		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		A	73441651	G	A	73441651	3	1	43	1	0	0	0	0	1	0	0	0	17660	1087	38	1	522	1	ZFYVE1	14	73441651	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	10978523	73441651	33907889	700	3877											
RBM25	58517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	73570174	73570174	+	Missense_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	ctcagatcgtaataaggatcGcagtcgatcaaggtaaggct	13	9	11	8	3	2	1	2	0	0	1	5	3	2	2	0	3	0	4	0	3	4	3	rs202176813		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:73570174G>A	ENST00000261973.7	+	10	1427	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	RBM25_ENST00000527432.1_Missense_Mutation_p.R381H	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	381	Arg-rich.|Glu-rich.|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)		AATAAGGATCGCAGTCGATCA	0.468																																						.											0													73	64	67					14																	73570174		2203	4300	6503	SO:0001583	missense	58517			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.1142G>A	14.37:g.73570174G>A	ENSP00000261973:p.Arg381His		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205316	0.58234	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.15952	2.38;2.38	5.75	5.75	0.90469	.	0.053390	0.85682	D	0.000000	T	0.14787	0.0357	L	0.34521	1.04	0.80722	D	1	P	0.42483	0.781	B	0.35240	0.198	T	0.01706	-1.1291	10	0.46703	T	0.11	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	381	P49756	RBM25_HUMAN	H	381	ENSP00000261973:R381H;ENSP00000431150:R381H	ENSP00000261973:R381H	R	+	2	0	RBM25	72639927	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGC		0.468	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		A	73570174	G	A	73570174	3	1	43	1	0	0	0	0	1	0	0	0	13125	1087	38	1	1176	1	RBM25	14	73570174	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	128523	73570174	33779366	701	3878											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	75302098	75302098	+	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	ggctgaaaaagccctcaatcGaaccaaatatatatgagact	17	8	7	9	1	1	2	1	2	0	1	2	4	1	2	2	1	2	1	2	1	8	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:75302098G>A	ENST00000552421.1	+	19	4431	c.4307G>A	c.(4306-4308)cGa>cAa	p.R1436Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2142Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1947					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)		GCCCTCAATCGAACCAAATAT	0.413																																						.											0													96	97	97					14																	75302098		1872	4103	5975	SO:0001583	missense	56252			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.4307G>A	14.37:g.75302098G>A	ENSP00000447921:p.Arg1436Gln		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.179110	0.78564	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	T;T	0.36699	1.24;1.24	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000018	T	0.49626	0.1568	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45293	-0.9271	10	0.46703	T	0.11	-8.0289	20.2768	0.98488	0.0:0.0:1.0:0.0	.	2142	P49750-4	.	Q	1436;2142	ENSP00000447921:R1436Q;ENSP00000324463:R2142Q	ENSP00000324463:R2142Q	R	+	2	0	YLPM1	74371851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	CGA		0.413	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		A	75302098	G	A	75302098	3	1	43	1	0	0	0	0	1	0	0	0	17483	1058	37	1	6503	1	YLPM1	14	75302098	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1731924	75302098	32047442	702	3879											
NEK9	91754	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	75555313	75555313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggagatgggctgtcaGgcatggggataaattctgca	11	9	16	5	0	2	2	1	1	1	2	2	5	2	3	0	5	1	3	0	5	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:75555313G>T	ENST00000238616.5	-	20	2632	c.2474C>A	c.(2473-2475)cCt>cAt	p.P825H		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	825	Interaction with NEK6.|Pro/Ser/Thr-rich.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGGGCTGTCAGGCATGGGGAT	0.448											OREG0022811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													103	94	97					14																	75555313		2203	4300	6503	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2474C>A	14.37:g.75555313G>T	ENSP00000238616:p.Pro825His	1161	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071923	0.93950	.	.	ENSG00000119638	ENST00000238616	T	0.74632	-0.86	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.956;0.988	T	0.81745	-0.0792	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	825;168	Q8TD19;Q6PKF2	NEK9_HUMAN;.	H	825	ENSP00000238616:P825H	ENSP00000238616:P825H	P	-	2	0	NEK9	74625066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.490000	0.97952	2.941000	0.99782	0.655000	0.94253	CCT		0.448	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		T	75555313	G	T	75555313	3	4	43	1	0	0	0	0	1	0	0	0	10331	1000	35	5	477	5	NEK9	14	75555313	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	253215	75555313	31794227	703	3880											
GPR65	8477	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	88477823	88477823	+	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	gaaagtctaccaagctgtgcGgcacaataaagccacggaaa	16	5	10	10	2	1	0	0	0	1	0	1	2	1	1	2	2	4	2	2	2	7	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88477823G>A	ENST00000267549.3	+	2	1190	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	211					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CAAGCTGTGCGGCACAATAAA	0.423																																						.											0													58	57	57					14																	88477823		2203	4300	6503	SO:0001583	missense	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.632G>A	14.37:g.88477823G>A	ENSP00000267549:p.Arg211Gln		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731479	0.30684	.	.	ENSG00000140030	ENST00000267549	T	0.42131	0.98	5.96	-8.89	0.00785	GPCR, rhodopsin-like superfamily (1);	1.610560	0.03651	N	0.240992	T	0.24928	0.0605	N	0.21282	0.65	0.09310	N	1	B	0.27316	0.175	B	0.23275	0.045	T	0.09662	-1.0664	10	0.20519	T	0.43	.	12.3078	0.54912	0.6519:0.0:0.2666:0.0815	.	211	Q8IYL9	PSYR_HUMAN	Q	211	ENSP00000267549:R211Q	ENSP00000267549:R211Q	R	+	2	0	GPR65	87547576	0.000000	0.05858	0.007000	0.13788	0.684000	0.39900	-1.016000	0.03633	-1.274000	0.02421	-0.133000	0.14855	CGG		0.423	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			A	88477823	G	A	88477823	3	1	43	1	0	0	0	0	1	0	0	0	6706	1116	39	1	634	1	GPR65	14	88477823	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12922510	88477823	18871717	704	3881											
KCNK10	54207	broad.mit.edu;mdanderson.org	37	chr14	88652027	88652027	+	Missense_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	ctgagttacacatcttttccGtctcctcctctttcttctcc	4	18	3	16	1	5	1	0	1	5	0	9	1	7	1	4	0	1	1	4	0	1	5	rs370557951		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88652027G>A	ENST00000340700.5	-	7	1920	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	KCNK10_ENST00000312350.5_Missense_Mutation_p.T495M|KCNK10_ENST00000319231.5_Missense_Mutation_p.T495M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	490					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CATCTTTTCCGTCTCCTCCTC	0.502																																						.											0								G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	166	161	163		1469,1484,1484	3.6	0.2	14		163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	490/539,495/544,495/544	88652027	1,13005	2203	4300	6503	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1469C>T	14.37:g.88652027G>A	ENSP00000343104:p.Thr490Met		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022338	0.35701	0.0	1.16E-4	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91180	-2.79;-2.8;-2.78	5.5	3.62	0.41486	.	1.171940	0.05778	N	0.608048	D	0.82370	0.5022	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33904	0.431;0.431;0.431	B;B;B	0.24269	0.031;0.021;0.052	T	0.72747	-0.4200	10	0.72032	D	0.01	.	4.8714	0.13635	0.0817:0.1471:0.6189:0.1523	.	490;495;495	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	M	490;495;495	ENSP00000343104:T490M;ENSP00000310568:T495M;ENSP00000312811:T495M	ENSP00000310568:T495M	T	-	2	0	KCNK10	87721780	0.070000	0.21116	0.171000	0.22900	0.939000	0.58152	1.814000	0.38972	0.650000	0.30769	0.655000	0.94253	ACG		0.502	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		A	88652027	G	A	88652027	3	1	43	1	0	0	0	0	1	0	0	0	8059	1145	40	1	151	1	KCNK10	14	88652027	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	174204	88652027	18697513	705	3882											
PTPN21	11099	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr14	88945933	88945933	+	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	ctgacctcctgcagcgagtgCgccacgggcaggctgtcctc	5	7	13	16	3	0	1	0	1	0	0	3	2	2	1	4	2	3	3	4	2	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88945933C>T	ENST00000556564.1	-	13	2126	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	PTPN21_ENST00000328736.3_Silent_p.A614A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	614					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						GCAGCGAGTGCGCCACGGGCA	0.687																																						.											0													19	19	19					14																	88945933		2200	4293	6493	SO:0001819	synonymous_variant	11099			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.1842G>A	14.37:g.88945933C>T				Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																				0.687	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			T	88945933	C	T	88945933	2	4	43	1	0	0	0	0	0	0	0	1	12786	755	27	1		1	PTPN21	14	88945933	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	293906	88945933	18403607	706	3883											
TTC8	123016	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	89307767	89307767	+	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	gtctattgtttttcctctgtAggcttccatgcttacaagtc	6	18	7	10	0	2	0	0	0	2	0	5	0	4	0	2	1	2	4	2	1	4	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:89307767A>G	ENST00000345383.5	+	5	543		c.e5-1		TTC8_ENST00000354441.6_Intron|TTC8_ENST00000338104.6_Splice_Site|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000380656.2_Splice_Site|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000358622.5_5'Flank|Y_RNA_ENST00000384612.1_RNA	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8						axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTTCCTCTGTAGGCTTCCATG	0.308																																						.											0													70	70	70					14																	89307767		2203	4298	6501	SO:0001630	splice_region_variant	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.460-1A>G	14.37:g.89307767A>G			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Splice_Site	SNP	ENST00000345383.5	37	CCDS9885.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.401036	0.62288	.	.	ENSG00000165533	ENST00000343648;ENST00000345383;ENST00000338104;ENST00000380656;ENST00000556651	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7711	0.78170	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC8	88377520	1.000000	0.71417	0.985000	0.45067	0.836000	0.47400	8.876000	0.92379	2.136000	0.66102	0.460000	0.39030	.		0.308	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596	Intron	G	89307767	A	G	89307767	5	3	43	1	0	0	0	0	0	0	1	0	16711	434	15	2	510	2	TTC8	14	89307767	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	361834	89307767	18041773	707	3884											
FOXN3	1112	broad.mit.edu	37	chr14	89817014	89817014	+	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	aaaagaagtctgaattgcttAcctttgatatgcctgaggac	13	12	9	7	0	1	4	0	3	1	1	1	5	1	5	2	1	3	1	2	1	6	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:89817014A>G	ENST00000345097.4	-	3	797		c.e3+1		RP11-356K23.1_ENST00000556942.1_RNA|FOXN3_ENST00000557258.1_Splice_Site|FOXN3_ENST00000555353.1_Splice_Site|FOXN3_ENST00000555658.1_Splice_Site|FOXN3_ENST00000261302.5_Splice_Site|RP11-356K23.1_ENST00000555407.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3						mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAATTGCTTACCTTTGATAT	0.393																																						.											0													178	160	166					14																	89817014		2203	4300	6503	SO:0001630	splice_region_variant	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.680+1T>C	14.37:g.89817014A>G			Q96II7|Q9UIE7	Splice_Site	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207484	0.79240	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000553840;ENST00000553353;ENST00000556916	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXN3	88886767	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.019000	0.93662	2.317000	0.78254	0.459000	0.35465	.		0.393	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197	Intron	G	89817014	A	G	89817014	5	3	43	1	0	0	0	0	0	0	1	0	6021	405	14	2	810	2	FOXN3	14	89817014	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	509247	89817014	17532526	708	3885											
RPS6KA5	9252	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	91366523	91366523	+	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	cactttcgacaaattgaaaaActaccttctcccaggggttt	12	12	6	11	1	1	1	0	1	1	0	3	2	1	1	2	2	2	1	2	2	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:91366523A>C	ENST00000261991.3	-	11	1481	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S357R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S436R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	436	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)		AAATTGAAAAACTACCTTCTC	0.328																																						.											0													87	91	90					14																	91366523		2203	4299	6502	SO:0001583	missense	9252			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.1308T>G	14.37:g.91366523A>C	ENSP00000261991:p.Ser436Arg		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606994	0.46527	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.53423	0.62;0.62;0.62	5.81	0.863	0.19062	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	0.56441	0.1985	L	0.46567	1.45	0.58432	D	0.999999	D;D	0.76494	0.957;0.999	P;D	0.77557	0.775;0.99	T	0.53767	-0.8392	10	0.87932	D	0	.	9.5152	0.39102	0.736:0.0:0.264:0.0	.	436;436	O75582-2;O75582	.;KS6A5_HUMAN	R	436;357;436	ENSP00000261991:S436R;ENSP00000442803:S357R;ENSP00000402787:S436R	ENSP00000261991:S436R	S	-	3	2	RPS6KA5	90436276	1.000000	0.71417	0.985000	0.45067	0.116000	0.19942	2.924000	0.48876	-0.079000	0.12707	-0.250000	0.11733	AGT		0.328	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		C	91366523	A	C	91366523	3	2	43	1	0	0	0	0	1	0	0	0	13654	40	2	5	1134	5	RPS6KA5	14	91366523	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1549509	91366523	15983017	709	3886											
GOLGA5	9950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	93277911	93277911	+	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	cacagagcgagtttgctgcaCgccttaataaagtggaaatg	13	9	11	8	2	0	1	0	0	0	1	0	3	0	2	1	1	3	3	1	1	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:93277911C>T	ENST00000163416.2	+	6	1388	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R378C	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	378					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GTTTGCTGCACGCCTTAATAA	0.358			T	RET	papillary thyroid																																	.		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0													71	74	73					14																	93277911		2203	4300	6503	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1132C>T	14.37:g.93277911C>T	ENSP00000163416:p.Arg378Cys		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310531	0.60414	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.55930	0.49;0.49	5.22	4.33	0.51752	.	0.130046	0.35262	N	0.003329	T	0.51958	0.1705	M	0.71581	2.175	0.80722	D	1	P	0.47106	0.89	B	0.38985	0.287	T	0.61098	-0.7131	10	0.87932	D	0	-2.9888	14.1378	0.65297	0.0:0.9268:0.0:0.0731	.	378	Q8TBA6	GOGA5_HUMAN	C	378;378;287	ENSP00000163416:R378C;ENSP00000348252:R378C	ENSP00000163416:R378C	R	+	1	0	GOLGA5	92347664	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	5.516000	0.67055	1.192000	0.43071	0.557000	0.71058	CGC		0.358	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			T	93277911	C	T	93277911	3	4	43	1	0	0	0	0	1	0	0	0	6556	536	19	1	1150	1	GOLGA5	14	93277911	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1911388	93277911	14071629	710	3887											
ATG2B	55102	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	96772058	96772058	+	Missense_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	agtgtaagggggctttgctcGtatcggtcttattaacgggc	7	13	14	7	3	1	0	0	0	1	0	3	0	1	0	0	4	2	4	0	4	4	5	rs138090571		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:96772058G>A	ENST00000359933.4	-	31	5494	c.4601C>T	c.(4600-4602)aCg>aTg	p.T1534M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1534					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)		GGCTTTGCTCGTATCGGTCTT	0.403																																						.											0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	134	122	126		4601	1.4	0	14	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ATG2B	NM_018036.5	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	1534/2079	96772058	2,13004	2203	4300	6503	SO:0001583	missense	55102			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.4601C>T	14.37:g.96772058G>A	ENSP00000353010:p.Thr1534Met		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535650	0.27475	2.27E-4	1.16E-4	ENSG00000066739	ENST00000359933	T	0.48201	0.82	5.55	1.43	0.22495	.	0.856800	0.10787	N	0.634158	T	0.48822	0.1521	L	0.57536	1.79	0.09310	N	1	D	0.59767	0.986	B	0.42386	0.386	T	0.50074	-0.8870	10	0.48119	T	0.1	.	17.9381	0.89019	0.0:0.515:0.485:0.0	.	1534	Q96BY7	ATG2B_HUMAN	M	1534	ENSP00000353010:T1534M	ENSP00000261834:T178M	T	-	2	0	ATG2B	95841811	0.053000	0.20554	0.000000	0.03702	0.082000	0.17680	2.208000	0.42797	-0.005000	0.14395	-0.189000	0.12847	ACG		0.403	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		A	96772058	G	A	96772058	3	1	43	1	0	0	0	0	1	0	0	0	1094	1145	40	1	1683	1	ATG2B	14	96772058	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3494147	96772058	10577482	711	3888											
PAPOLA	10914	broad.mit.edu	37	chr14	97014212	97014212	+	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	gcatgtaaaaagaaagcaacTccatcaactactacctaatc	18	8	4	11	0	1	1	1	0	0	1	3	1	2	1	2	0	5	3	2	0	9	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:97014212T>A	ENST00000216277.8	+	16	1698	c.1478T>A	c.(1477-1479)cTc>cAc	p.L493H	PAPOLA_ENST00000392990.2_Missense_Mutation_p.L493H	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	493					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAAAGCAACTCCATCAACTA	0.308																																					NSCLC(19;254 734 11908 35501 39234)	.											0													83	82	82					14																	97014212		2203	4298	6501	SO:0001583	missense	10914			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1478T>A	14.37:g.97014212T>A	ENSP00000216277:p.Leu493His		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622974	0.87460	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.54	5.54	0.83059	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.83774	2.66	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.997	D;D;D	0.77557	0.983;0.99;0.99	D	0.83960	0.0321	9	0.87932	D	0	.	15.6775	0.77338	0.0:0.0:0.0:1.0	.	509;509;493	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	H	493;509;493;243	.	ENSP00000216277:L493H	L	+	2	0	PAPOLA	96083965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.104000	0.64026	0.533000	0.62120	CTC		0.308	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			A	97014212	T	A	97014212	3	1	43	1	0	0	0	0	1	0	0	0	11429	1551	54	5	1540	5	PAPOLA	14	97014212	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	242154	97014212	10335328	712	3889											
HHIPL1	84439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr14	100141822	100141822	+	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	ttcggccagggcggctcgctGcccattctgctggacgatgt	4	10	14	13	4	1	0	0	0	1	0	3	2	1	1	2	4	2	3	2	4	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:100141822G>A	ENST00000330710.5	+	9	2306	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	736	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCGGCTCGCTGCCCATTCTGC	0.697																																						.											0													9	13	12					14																	100141822		688	1582	2270	SO:0001819	synonymous_variant	84439			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2208G>A	14.37:g.100141822G>A			A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	CCDS45162.1																																																																																				0.697	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		A	100141822	G	A	100141822	2	1	43	1	0	0	0	0	0	0	0	1	7093	1306	46	4		4	HHIPL1	14	100141822	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3127610	100141822	7207718	713	3890											
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	101350657	101350657	+	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	aagttctgcggttgagtgctCggtctggttttgctcttgag	4	16	14	7	2	3	2	0	2	3	0	4	2	3	2	0	3	3	5	0	3	1	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:101350657C>T	ENST00000534062.1	-	1	527	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	157					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTTGAGTGCTCGGTCTGGTTT	0.522																																						.											0													268	231	242					14																	101350657		692	1591	2283	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.469G>A	14.37:g.101350657C>T	ENSP00000435342:p.Glu157Lys		E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	5.423	0.263163	0.10294	.	.	ENSG00000254656	ENST00000534062	T	0.21734	1.99	2.2	0.156	0.14910	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40327	-0.9569	9	0.07175	T	0.84	.	4.2224	0.10565	0.0:0.5895:0.0:0.4105	.	157	E9PKS8	.	K	157	ENSP00000435342:E157K	ENSP00000435342:E157K	E	-	1	0	RTL1	100420410	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.172000	0.09868	0.018000	0.15052	0.555000	0.69702	GAG		0.522	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		T	101350657	C	T	101350657	3	4	43	1	0	0	0	0	1	0	0	0	13724	893	31	1	3611	1	RTL1	14	101350657	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1208835	101350657	5998883	714	3891											
ZNF839	55778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	102807759	102807759	+	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	gagcgtgttccaggcgggccCgcagcttcaggcactggcta	6	7	15	13	3	1	0	1	0	0	0	2	1	2	0	2	4	2	5	2	4	1	3	rs544983444	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:102807759C>T	ENST00000558850.1	+	8	2029	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	ZNF839_ENST00000262236.5_Missense_Mutation_p.P562L|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000442396.2_Missense_Mutation_p.P676L|ZNF839_ENST00000559185.1_Missense_Mutation_p.P560L|ZNF839_ENST00000420933.2_3'UTR	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	560							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGCGGGCCCGCAGCTTCAG	0.557													C|||	3	0.000599042	0	0	5008	,	,		16604	0		0	False		,,,				2504	0.0031					.											0													61	62	62					14																	102807759		1970	4167	6137	SO:0001583	missense	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1679C>T	14.37:g.102807759C>T	ENSP00000453363:p.Pro560Leu		B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444871	0.25987	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.16897	2.31;2.31	4.56	-4.45	0.03546	.	2.076230	0.02062	N	0.050829	T	0.07052	0.0179	N	0.04636	-0.2	0.09310	N	1	B;B;B	0.31077	0.307;0.134;0.134	B;B;B	0.24394	0.053;0.023;0.031	T	0.18967	-1.0320	10	0.45353	T	0.12	.	5.4007	0.16295	0.3927:0.2829:0.3244:0.0	.	676;562;560	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	L	676;562;228;94	ENSP00000399863:P676L;ENSP00000262236:P562L	ENSP00000262236:P562L	P	+	2	0	ZNF839	101877512	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-0.134000	0.10436	-1.147000	0.02851	-0.578000	0.04140	CCG		0.557	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		T	102807759	C	T	102807759	3	4	43	1	0	0	0	0	1	0	0	0	18185	652	23	1	2057	1	ZNF839	14	102807759	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1457102	102807759	4541781	715	3892											
C14orf73	91828	hgsc.bcm.edu	37	chr14	103568933	103568933	+	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	ttggttcgccgcgacctgcaGaaggtgcggcaggaggtgca	7	7	17	10	4	0	1	0	0	0	1	1	3	0	2	2	5	3	4	2	5	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:103568933G>A	ENST00000380069.3	+	2	949	c.873G>A	c.(871-873)caG>caA	p.Q291Q		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	291					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCGACCTGCAGAAGGTGCGGC	0.746																																						.											0													4	7	6					14																	103568933		1955	3925	5880	SO:0001819	synonymous_variant	91828			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.873G>A	14.37:g.103568933G>A			Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																				0.746	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		A	103568933	G	A	103568933	2	1	43	1	0	0	0	0	0	0	0	1	1779	933	33	4		4	C14orf73	14	103568933	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	761174	103568933	3780607	716	3893											
CKB	1152	broad.mit.edu;mdanderson.org	37	chr14	103988669	103988669	+	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	acgcctgtctggatgacgtcGtccagcgtgaagccgctcgg	6	8	14	13	6	1	2	0	2	1	0	4	3	2	3	3	2	2	1	3	2	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:103988669G>A	ENST00000348956.2	-	2	519	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	54	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGATGACGTCGTCCAGCGTGA	0.726																																					Esophageal Squamous(186;2492 2823 49929 50127)	.											0													46	45	45					14																	103988669		2200	4298	6498	SO:0001819	synonymous_variant	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.162C>T	14.37:g.103988669G>A			A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1																																																																																				0.726	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			A	103988669	G	A	103988669	2	1	43	1	0	0	0	0	0	0	0	1	3446	1136	40	1		1	CKB	14	103988669	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	419736	103988669	3360871	717	3894											
TDRD9	122402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	104431775	104431775	+	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	tcttggaccactacgttcagCgctccgcctactgcagcatt	7	11	8	15	3	2	0	1	0	1	0	3	1	3	1	3	1	5	4	3	1	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:104431775C>T	ENST00000409874.4	+	4	574	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	TDRD9_ENST00000554571.1_3'UTR|TDRD9_ENST00000339063.5_Missense_Mutation_p.R176C	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	176	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				CTACGTTCAGCGCTCCGCCTA	0.562																																						.											0													81	77	78					14																	104431775		692	1591	2283	SO:0001583	missense	122402			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.526C>T	14.37:g.104431775C>T	ENSP00000387303:p.Arg176Cys		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804306	0.50315	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.15487	2.42;2.42	4.54	2.55	0.30701	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	.	.	.	.	T	0.33323	0.0859	L	0.60067	1.865	0.28715	N	0.903313	D	0.89917	1.0	D	0.66847	0.947	T	0.07578	-1.0765	9	0.87932	D	0	.	9.2326	0.37446	0.0:0.7723:0.1464:0.0813	.	176	Q8NDG6	TDRD9_HUMAN	C	176	ENSP00000387303:R176C;ENSP00000343545:R176C	ENSP00000343545:R176C	R	+	1	0	TDRD9	103501528	0.995000	0.38212	0.691000	0.30163	0.390000	0.30446	3.237000	0.51344	1.025000	0.39708	0.460000	0.39030	CGC		0.562	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		T	104431775	C	T	104431775	3	4	43	1	0	0	0	0	1	0	0	0	15733	768	27	1	540	1	TDRD9	14	104431775	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	443106	104431775	2917765	718	3895											
KIAA0284	283638	mdanderson.org	37	chr14	105354293	105354293	+	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	cccttcagcagggcccgctcAggcagtgcccgatacacctc	7	6	10	18	2	2	0	2	0	0	0	3	1	2	0	4	2	3	3	4	2	1	2	rs2582548	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:105354293A>G	ENST00000414716.3	+	12	3945	c.3717A>G	c.(3715-3717)tcA>tcG	p.S1239S	CEP170B_ENST00000556508.1_Silent_p.S1169S|CEP170B_ENST00000453495.1_Silent_p.S1240S|CEP170B_ENST00000418279.1_Silent_p.S1169S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1239						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1170S(1)|p.S1169S(1)|p.S1239S(1)									GGGCCCGCTCAGGCAGTGCCC	0.682													g|||	2823	0.563698	0.5454	0.6527	5008	,	,		15507	0.2272		0.7753	False		,,,				2504	0.6544					.											3	Substitution - coding silent(3)	prostate(3)							,	2278,1490		703,872,309	4	5	4		3717,3507	-2	0.9	14	dbSNP_100	4	6255,1709		2492,1271,219	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	3195,2143,528	GG,GA,AA		21.4591,39.5435,27.2673	,	1239/1555,1169/1520	105354293	8533,3199	1884	3982	5866	SO:0001819	synonymous_variant	283638			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.3717A>G	14.37:g.105354293A>G			Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																				0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		G	105354293	A	G	105354293	2	3	43	1	0	0	0	0	0	0	0	1	8166	175	7	2		2	KIAA0284	14	105354293	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	922518	105354293	1995247	719	3896											
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	105416582	105416582	+	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	ggggaggtgccctttgaagcCggctccctcgggaagggggc	5	6	19	11	2	0	1	0	1	0	0	2	3	1	3	3	7	2	1	3	7	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:105416582C>T	ENST00000333244.5	-	7	5325	c.5206G>A	c.(5206-5208)Ggc>Agc	p.G1736S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1736						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)			CCTTTGAAGCCGGCTCCCTCG	0.637																																						.											0													85	97	93					14																	105416582		1811	4033	5844	SO:0001583	missense	113146			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.5206G>A	14.37:g.105416582C>T	ENSP00000353114:p.Gly1736Ser		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.52	2.858847	0.51376	.	.	ENSG00000185567	ENST00000333244	T	0.01527	4.8	4.8	-4.57	0.03421	.	.	.	.	.	T	0.02083	0.0065	L	0.45581	1.43	0.09310	N	1	P	0.45240	0.854	P	0.46253	0.509	T	0.26395	-1.0104	9	0.08179	T	0.78	-4.5506	8.8196	0.35018	0.0:0.377:0.0985:0.5245	.	1736	Q8IVF2	AHNK2_HUMAN	S	1736	ENSP00000353114:G1736S	ENSP00000353114:G1736S	G	-	1	0	AHNAK2	104487627	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.303000	0.08210	-1.144000	0.02862	-1.256000	0.01477	GGC		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105416582	C	T	105416582	3	4	43	1	0	0	0	0	1	0	0	0	415	652	23	1	12185	1	AHNAK2	14	105416582	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	62289	105416582	1932958	720	3897											
CYFIP1	23191	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	22999456	22999456	+	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	ttctggatgaccccatctggCgcgggcctctgcccagcaat	6	9	11	15	2	3	1	0	1	3	0	3	2	3	2	4	3	2	1	4	3	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:22999456C>T	ENST00000313077.7	+	29	3453	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R1110C|CYFIP1_ENST00000435939.2_Missense_Mutation_p.R679C	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.R1110C(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)		CCCCATCTGGCGCGGGCCTCT	0.592																																						.											1	Substitution - Missense(1)	large_intestine(1)											59	59	59					15																	22999456		2203	4300	6503	SO:0001583	missense	23191			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.3328C>T	15.37:g.22999456C>T	ENSP00000324549:p.Arg1110Cys			Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063093	0.93898	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.23754	1.89;1.89	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.31513	0.0799	N	0.17082	0.46	0.80722	D	1	B;D	0.63046	0.129;0.992	B;P	0.56088	0.022;0.791	T	0.05402	-1.0887	10	0.42905	T	0.14	-15.0561	19.4921	0.95054	0.0:1.0:0.0:0.0	.	679;1110	Q7L576-2;Q7L576	.;CYFP1_HUMAN	C	1110;1112;679	ENSP00000324549:R1110C;ENSP00000405956:R679C	ENSP00000324549:R1110C	R	+	1	0	CYFIP1	20550897	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.977000	0.70492	2.624000	0.88883	0.561000	0.74099	CGC		0.592	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22999456	C	T	22999456	3	4	43	1	0	0	0	0	1	0	0	0	4137	768	27	1	3819	1	CYFIP1	15	22999456	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		22999456	79531936	721	3898											
MAGEL2	54551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	23889371	23889371	+	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	tactctgcgggctcagtgtaAgggattcgcctgtactctag	7	12	12	10	2	3	0	1	0	2	0	4	1	3	1	1	2	3	3	1	2	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:23889371A>T	ENST00000532292.1	-	1	1804	c.1710T>A	c.(1708-1710)ccT>ccA	p.P570P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	453					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)		GCTCAGTGTAAGGGATTCGCC	0.507																																						.											0													49	50	50					15																	23889371		1914	4128	6042	SO:0001819	synonymous_variant	54551			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.1710T>A	15.37:g.23889371A>T				Silent	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	A	6.277	0.419253	0.11870	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	-8.18	0.01053	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.21499	N	0.999664	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	.	11.1534	0.48473	0.7556:0.1131:0.1313:0.0	.	.	.	.	H	602	.	.	L	-	2	0	MAGEL2	21440464	0.082000	0.21442	0.000000	0.03702	0.825000	0.46686	-0.403000	0.07214	-1.612000	0.01579	-0.414000	0.06135	CTT		0.507	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23889371	A	T	23889371	2	4	43	1	0	0	0	0	0	0	0	1	9189	59	3	5		5	MAGEL2	15	23889371	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	889915	23889371	78642021	722	3899											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	28427617	28427617	+	Missense_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	caaacaccttggttcttatcGtagctgctgattccagccca	9	12	7	13	1	1	1	0	1	1	0	3	1	2	1	3	1	4	4	3	1	3	5	rs200987196		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:28427617G>A	ENST00000261609.7	-	57	8975	c.8867C>T	c.(8866-8868)aCg>aTg	p.T2956M		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)		GGTTCTTATCGTAGCTGCTGA	0.493													G|||	1	0.000199681	0	0	5008	,	,		14650	0		0	False		,,,				2504	0.001					.											0													70	71	71					15																	28427617		2203	4300	6503	SO:0001583	missense	8924			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.8867C>T	15.37:g.28427617G>A	ENSP00000261609:p.Thr2956Met			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123030	0.56613	.	.	ENSG00000128731	ENST00000261609	T	0.39406	1.08	5.16	5.16	0.70880	.	0.055502	0.64402	D	0.000001	T	0.45637	0.1352	N	0.08118	0	0.58432	D	0.999995	D	0.89917	1.0	D	0.69654	0.965	T	0.55995	-0.8052	10	0.48119	T	0.1	.	18.6542	0.91445	0.0:0.0:1.0:0.0	.	2956	O95714	HERC2_HUMAN	M	2956	ENSP00000261609:T2956M	ENSP00000261609:T2956M	T	-	2	0	HERC2	26101212	1.000000	0.71417	0.729000	0.30791	0.363000	0.29612	6.593000	0.74100	2.386000	0.81285	0.650000	0.86243	ACG		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28427617	G	A	28427617	3	1	43	1	0	0	0	0	1	0	0	0	7058	1145	40	1	5785	1	HERC2	15	28427617	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4538246	28427617	74103775	723	3900											
HERC2	8924	broad.mit.edu	37	chr15	28478879	28478879	+	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	ttccacgggatgctcgggggGaaacatgatcggtgtggtca	8	9	16	8	3	1	1	1	1	0	0	4	3	2	3	1	6	2	1	1	6	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:28478879G>A	ENST00000261609.7	-	28	4390	c.4282C>T	c.(4282-4284)Ccc>Tcc	p.P1428S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1428S(1)		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)		TGCTCGGGGGGAAACATGATC	0.458																																						.											1	Substitution - Missense(1)	large_intestine(1)											53	51	51					15																	28478879		2203	4283	6486	SO:0001583	missense	8924			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.4282C>T	15.37:g.28478879G>A	ENSP00000261609:p.Pro1428Ser			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	g	9.301	1.053063	0.19907	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.26780	-1.0093	10	0.13470	T	0.59	.	17.2162	0.86945	0.0:0.0:1.0:0.0	.	1428	O95714	HERC2_HUMAN	S	1428	ENSP00000261609:P1428S	ENSP00000261609:P1428S	P	-	1	0	HERC2	26152474	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	9.260000	0.95568	2.360000	0.80028	0.550000	0.68814	CCC		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28478879	G	A	28478879	3	1	43	1	0	0	0	0	1	0	0	0	7058	1174	41	3	10486	3	HERC2	15	28478879	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	51262	28478879	74052513	724	3901											
TJP1	7082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	30010880	30010880	+	Missense_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	agctggctgctcttcgtgccGcagggcggatgctctaggtg	4	10	16	11	3	2	0	0	0	2	0	3	1	2	1	1	4	4	5	1	4	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:30010880G>A	ENST00000346128.6	-	21	3940	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	TJP1_ENST00000545208.2_Missense_Mutation_p.R1076W|TJP1_ENST00000400011.2_Missense_Mutation_p.R1080W|TJP1_ENST00000356107.6_Missense_Mutation_p.R1156W	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1156					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)		TCTTCGTGCCGCAGGGCGGAT	0.592																																					Melanoma(77;681 1843 6309 6570)	.											0													88	93	92					15																	30010880		2091	4227	6318	SO:0001583	missense	7082				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.3466C>T	15.37:g.30010880G>A	ENSP00000281537:p.Arg1156Trp		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328664	0.60743	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.11604	2.82;2.76	6.05	5.13	0.70059	.	0.057456	0.64402	D	0.000001	T	0.31513	0.0799	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.72075	0.971;0.976;0.928;0.973	T	0.04427	-1.0952	10	0.87932	D	0	.	16.7023	0.85357	0.0:0.0:0.8694:0.1306	.	1149;1076;1156;1080	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	W	1156;1080;1156;1076;1076	ENSP00000281537:R1156W;ENSP00000382890:R1080W	ENSP00000281537:R1156W	R	-	1	2	TJP1	27798172	1.000000	0.71417	0.074000	0.20217	0.074000	0.17049	5.902000	0.69869	1.538000	0.49270	0.650000	0.86243	CGG		0.592	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		A	30010880	G	A	30010880	3	1	43	1	0	0	0	0	1	0	0	0	15926	1086	38	1	1812	1	TJP1	15	30010880	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1532001	30010880	72520512	725	3902											
CHRNA7	1139	mdanderson.org	37	chr15	32460285	32460285	+	Missense_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	gcgccgtggcgccgccgcccGccagcaacgggaacctgctg	5	3	15	18	7	0	0	0	0	0	0	0	1	0	1	6	2	4	2	6	2	2	0	rs573369306		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-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)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716																																					Esophageal Squamous(193;529 2900 40232 43193)	.											0													16	24	21					15																	32460285		2179	4281	6460	SO:0001583	missense	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1135G>A	15.37:g.32460285G>A	ENSP00000303727:p.Ala379Thr		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	3.425	-0.117298	0.06838	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19669	2.13;2.13;2.13	3.84	-0.555	0.11807	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.523290	0.01582	N	0.021155	T	0.08179	0.0204	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.12766	T	0.61	.	3.6481	0.08192	0.494:0.0:0.3237:0.1823	.	408;379	B4DFS0;P36544	.;ACHA7_HUMAN	T	289;408;379;198	ENSP00000407546:A408T;ENSP00000303727:A379T;ENSP00000405989:A198T	ENSP00000303727:A379T	A	+	1	0	CHRNA7	30247577	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.094000	0.11094	-0.091000	0.12440	0.650000	0.86243	GCC		0.716	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			A	32460285	G	A	32460285	3	1	43	1	0	0	0	0	1	0	0	0	3388	1087	38	1	1173	1	CHRNA7	15	32460285	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2449405	32460285	70071107	726	3903											
CASC5	57082	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr15	40916787	40916787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatttatgttattcctcAgcctcatttctcaaccgacc	9	15	4	13	1	3	1	3	1	1	0	5	2	4	1	4	0	2	1	4	0	3	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:40916787A>G	ENST00000346991.5	+	11	4793	c.4403A>G	c.(4402-4404)cAg>cGg	p.Q1468R	CASC5_ENST00000399668.2_Missense_Mutation_p.Q1442R			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1468					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)		GTTATTCCTCAGCCTCATTTC	0.353																																						.											0													89	85	86					15																	40916787		1851	4093	5944	SO:0001583	missense	57082			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.4403A>G	15.37:g.40916787A>G	ENSP00000335463:p.Gln1468Arg		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234746	0.09969	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05717	3.4;3.4	4.6	2.17	0.27698	.	0.926357	0.08995	N	0.863806	T	0.11623	0.0283	M	0.61703	1.905	0.09310	N	1	P;P;D	0.54047	0.557;0.557;0.964	B;B;P	0.45829	0.299;0.299;0.494	T	0.26121	-1.0112	10	0.87932	D	0	.	10.278	0.43521	0.6807:0.3193:0.0:0.0	.	1442;1468;1442	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	R	1468;1442;1442	ENSP00000335463:Q1468R;ENSP00000382576:Q1442R	ENSP00000260369:Q1442R	Q	+	2	0	CASC5	38704079	0.080000	0.21391	0.512000	0.27736	0.026000	0.11368	1.336000	0.33850	0.324000	0.23333	0.491000	0.48974	CAG		0.353	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40916787	A	G	40916787	3	3	43	1	0	0	0	0	1	0	0	0	2663	188	7	2	4441	2	CASC5	15	40916787	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	8456502	40916787	61614605	727	3904											
ZFYVE19	84936	hgsc.bcm.edu;mdanderson.org	37	chr15	41105576	41105576	+	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	ctcccagacagtgatgacgaCgaggatgaggagacagccat	13	5	13	10	2	0	5	0	3	0	2	1	9	1	6	2	2	1	0	2	2	0	0	rs201883316		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41105576C>T	ENST00000355341.4	+	8	1572	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	ZFYVE19_ENST00000564258.1_Silent_p.D182D|ZFYVE19_ENST00000299173.10_Silent_p.D289D|ZFYVE19_ENST00000336455.5_Silent_p.D347D|ZFYVE19_ENST00000570108.1_Silent_p.D334D	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	357					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)		GTGATGACGACGAGGATGAGG	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		19736	0		0	False		,,,				2504	0					.											0								C		1,4161		0,1,2080	50	57	54		1071	-6.9	0.6	15		54	0,8418		0,0,4209	no	coding-synonymous	ZFYVE19	NM_001077268.1		0,1,6289	TT,TC,CC		0.0,0.024,0.0079		357/472	41105576	1,12579	2081	4209	6290	SO:0001819	synonymous_variant	84936			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.1071C>T	15.37:g.41105576C>T			B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	CCDS42025.1																																																																																				0.582	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		T	41105576	C	T	41105576	2	4	43	1	0	0	0	0	0	0	0	1	17662	535	19	1		1	ZFYVE19	15	41105576	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	188789	41105576	61425816	728	3905											
RTF1	23168	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr15	41769459	41769459	+	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	cagaggccctggaccgccagCggaccaagaacatatccgct	11	4	11	15	3	0	2	0	0	0	2	1	4	1	4	5	3	2	1	5	3	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41769459C>T	ENST00000389629.4	+	13	1669	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	553					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGACCGCCAGCGGACCAAGAA	0.547																																						.											0													113	123	120					15																	41769459		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1657C>T	15.37:g.41769459C>T	ENSP00000374280:p.Arg553Trp		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078271	0.76528	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.42	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80074	-0.1534	9	0.72032	D	0.01	-4.1498	14.5409	0.67995	0.2674:0.7326:0.0:0.0	.	553	Q92541	RTF1_HUMAN	W	553	.	ENSP00000374280:R553W	R	+	1	2	RTF1	39556751	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.470000	0.60175	0.808000	0.34231	-0.311000	0.09066	CGG		0.547	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		T	41769459	C	T	41769459	3	4	43	1	0	0	0	0	1	0	0	0	13721	759	27	1	1707	1	RTF1	15	41769459	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	663883	41769459	60761933	729	3906											
RPAP1	26015	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	41814441	41814441	+	Missense_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	gtcccggggcagccaatatgGcagccagctgaggaaaagca	12	4	14	11	1	0	1	0	1	0	0	1	2	1	2	3	4	4	4	3	4	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41814441G>A	ENST00000304330.4	-	20	2866	c.2750C>T	c.(2749-2751)gCc>gTc	p.A917V	RPAP1_ENST00000561603.1_Missense_Mutation_p.A917V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	917	Leu-rich.					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)		AGCCAATATGGCAGCCAGCTG	0.562																																						.											0													18	23	21					15																	41814441		2201	4297	6498	SO:0001583	missense	26015			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.2750C>T	15.37:g.41814441G>A	ENSP00000306123:p.Ala917Val		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136744	0.09032	.	.	ENSG00000103932	ENST00000304330	T	0.11821	2.74	5.0	0.893	0.19236	.	0.969729	0.08589	N	0.923357	T	0.10252	0.0251	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35549	-0.9784	10	0.46703	T	0.11	-9.0683	8.2846	0.31922	0.4263:0.0:0.5737:0.0	.	917	Q9BWH6	RPAP1_HUMAN	V	917	ENSP00000306123:A917V	ENSP00000306123:A917V	A	-	2	0	RPAP1	39601733	0.017000	0.18338	0.002000	0.10522	0.564000	0.35744	1.305000	0.33493	0.009000	0.14813	-0.391000	0.06502	GCC		0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		A	41814441	G	A	41814441	3	1	43	1	0	0	0	0	1	0	0	0	13541	1203	42	3	1455	3	RPAP1	15	41814441	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	44982	41814441	60716951	730	3907											
PLA2G4B	100137049	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr15	42131115	42131115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgaggactcagtctcatgGctgtggtaaggcctggcagg	7	9	15	10	0	2	1	2	1	1	0	3	2	2	2	2	6	0	3	2	6	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42131115G>T	ENST00000452633.1	+	2	356	c.4G>T	c.(4-6)Gct>Tct	p.A2S	JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000542534.2_Intron|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.A2S|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7-PLA2G4B_ENST00000476036.1_Intron			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	2	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CAGTCTCATGGCTGTGGTAAG	0.562																																						.											0													44	40	41					15																	42131115		1567	3581	5148	SO:0001583	missense	100137049			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.4G>T	15.37:g.42131115G>T	ENSP00000396045:p.Ala2Ser		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	15.82	2.945454	0.53079	.	.	ENSG00000168970;ENSG00000243708	ENST00000458483;ENST00000452633	T;T	0.01313	5.02;5.02	5.15	5.15	0.70609	.	.	.	.	.	T	0.01189	0.0039	.	.	.	0.22666	N	0.998871	P	0.46987	0.888	B	0.42163	0.378	T	0.52102	-0.8620	8	0.06757	T	0.87	-0.7799	14.5006	0.67719	0.0:0.0:1.0:0.0	.	2	P0C869	PA24B_HUMAN	S	2	ENSP00000416610:A2S;ENSP00000396045:A2S	ENSP00000416610:A2S	A	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39918407	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.743000	0.62110	2.567000	0.86603	0.655000	0.94253	GCT		0.562	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		T	42131115	G	T	42131115	3	4	43	1	0	0	0	0	1	0	0	0	12002	1203	42	5	6	5	PLA2G4B	15	42131115	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	316674	42131115	60400277	731	3908											
EHD4	30844	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr15	42193092	42193092	+	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	gatatcttgccattgatgggCgacagagtgtagaagagctc	11	10	13	7	1	1	4	0	1	1	3	2	6	1	4	1	1	2	2	1	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42193092C>T	ENST00000220325.4	-	6	1460	c.1377G>A	c.(1375-1377)tcG>tcA	p.S459S	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	459	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CATTGATGGGCGACAGAGTGT	0.602																																						.											0													86	72	77					15																	42193092		2203	4299	6502	SO:0001819	synonymous_variant	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1377G>A	15.37:g.42193092C>T			Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	CCDS10081.1																																																																																				0.602	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		T	42193092	C	T	42193092	2	4	43	1	0	0	0	0	0	0	0	1	4980	755	27	1		1	EHD4	15	42193092	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	61977	42193092	60338300	732	3909											
TMEM87A	25963	broad.mit.edu	37	chr15	42564314	42564314	+	Frame_Shift_Del	DEL	T	T	-																															tctttccaaaactaaaataaTttttcccctgcaaacataaa																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42564314delT	ENST00000389834.4	-	2	416	c.152delA	c.(151-153)aatfs	p.N51fs	TMEM87A_ENST00000448392.1_Intron|TMEM87A_ENST00000307216.6_Frame_Shift_Del_p.N51fs|GANC_ENST00000318010.8_5'Flank|GANC_ENST00000440615.2_5'Flank|TMEM87A_ENST00000568432.1_5'UTR|GANC_ENST00000566442.1_5'Flank	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	51						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ACTAAAATAATTTTTCCCCTG	0.294																																						.											0													36	37	37					15																	42564314		2202	4296	6498	SO:0001589	frameshift_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.152delA	15.37:g.42564314delT	ENSP00000374484:p.Asn51fs		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Frame_Shift_Del	DEL	ENST00000389834.4	37	CCDS32205.1																																																																																				0.294	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		-	42564314	T	-	42564314	7	5	43	1	0	1	0	1	0	0	0	0	16207	1493	52	0	1637	0	TMEM87A	15	42564314	Frame_Shift_Del	DEL	T	TCGA-KN-8428-01A-11D-2310-10	371222	42564314	59967078	733	3910											
GANC	2595	broad.mit.edu;mdanderson.org	37	chr15	42619597	42619597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttcaccaatcccaaggTcagagagtggtattcaagtc	12	10	10	9	0	3	1	3	0	0	1	5	3	4	2	2	3	0	1	2	3	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42619597T>C	ENST00000318010.8	+	13	1697	c.1457T>C	c.(1456-1458)gTc>gCc	p.V486A		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	486					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AATCCCAAGGTCAGAGAGTGG	0.423																																						.											0													291	254	267					15																	42619597		2203	4299	6502	SO:0001583	missense	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1457T>C	15.37:g.42619597T>C	ENSP00000326227:p.Val486Ala		Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281005	0.80692	.	.	ENSG00000214013	ENST00000318010	D	0.95035	-3.59	5.32	5.32	0.75619	Glycoside hydrolase, superfamily (1);	0.121554	0.56097	D	0.000027	D	0.90477	0.7017	N	0.17248	0.465	0.52099	D	0.999945	P	0.36616	0.561	B	0.42882	0.401	D	0.89515	0.3774	10	0.31617	T	0.26	-16.5794	13.884	0.63698	0.0:0.0:0.0:1.0	.	486	Q8TET4	GANC_HUMAN	A	486	ENSP00000326227:V486A	ENSP00000326227:V486A	V	+	2	0	GANC	40406889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.305000	0.59110	2.013000	0.59113	0.528000	0.53228	GTC		0.423	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		C	42619597	T	C	42619597	3	2	43	1	0	0	0	0	1	0	0	0	6234	1667	58	2	1507	2	GANC	15	42619597	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	55283	42619597	59911795	734	3911											
TGM7	116179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	43585733	43585733	+	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	ggtagaagggctggccgcggCgcacagtgagccgcttgacg	7	5	18	11	5	0	3	0	2	0	1	0	3	0	3	2	4	1	4	2	4	2	2	rs150218635	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43585733C>T	ENST00000452443.2	-	2	111	c.107G>A	c.(106-108)cGc>cAc	p.R36H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	36					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)	CTGGCCGCGGCGCACAGTGAG	0.617																																						.											0									HIS/ARG	5,4397	9.9+/-24.2	0,5,2196	84	86	85		107	5.1	1	15	dbSNP_134	85	0,8596		0,0,4298	no	missense	TGM7	NM_052955.2	29	0,5,6494	TT,TC,CC		0.0,0.1136,0.0385	probably-damaging	36/711	43585733	5,12993	2201	4298	6499	SO:0001583	missense	116179			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.107G>A	15.37:g.43585733C>T	ENSP00000389466:p.Arg36His			Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.211069	0.79240	0.001136	0.0	ENSG00000159495	ENST00000452443	D	0.98947	-5.26	5.07	5.07	0.68467	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.92833	3.35	0.38616	D	0.951023	D	0.89917	1.0	D	0.91635	0.999	D	0.99858	1.1079	10	0.87932	D	0	-20.0004	14.3332	0.66572	0.0:1.0:0.0:0.0	.	36	Q96PF1	TGM7_HUMAN	H	36	ENSP00000389466:R36H	ENSP00000389466:R36H	R	-	2	0	TGM7	41373025	1.000000	0.71417	0.967000	0.41034	0.064000	0.16182	5.029000	0.64121	2.534000	0.85438	0.454000	0.30748	CGC		0.617	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		T	43585733	C	T	43585733	3	4	43	1	0	0	0	0	1	0	0	0	15832	768	27	1	2073	1	TGM7	15	43585733	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	966136	43585733	58945659	735	3912											
TP53BP1	7158	broad.mit.edu	37	chr15	43773188	43773188	+	Missense_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	ctcccttctcttcctccacaGcaggagcagattccactgac	8	10	6	17	0	1	2	0	1	1	1	6	3	5	3	4	1	2	2	4	1	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43773188G>A	ENST00000263801.3	-	5	641	c.389C>T	c.(388-390)gCt>gTt	p.A130V	TP53BP1_ENST00000382039.3_Missense_Mutation_p.A135V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.A135V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A135V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	130					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)		ttcctccACAGCAGGAGCAGA	0.453								Other conserved DNA damage response genes																														.											0													229	175	193					15																	43773188		2201	4298	6499	SO:0001583	missense	7158			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.389C>T	15.37:g.43773188G>A	ENSP00000263801:p.Ala130Val		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	9.638	1.138150	0.21123	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.09911	3.75;3.75;3.75;3.75;2.93	4.61	3.68	0.42216	.	1.743780	0.02818	N	0.125177	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.31024	-0.9958	10	0.24483	T	0.36	2.085	8.1265	0.31001	0.1171:0.0:0.8829:0.0	.	135;130;135;135	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	V	130;135;135;135;135	ENSP00000263801:A130V;ENSP00000371475:A135V;ENSP00000371470:A135V;ENSP00000393497:A135V;ENSP00000388028:A135V	ENSP00000263801:A130V	A	-	2	0	TP53BP1	41560480	0.025000	0.19082	0.020000	0.16555	0.831000	0.47069	1.588000	0.36633	1.054000	0.40438	0.467000	0.42956	GCT		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43773188	G	A	43773188	3	1	43	1	0	0	0	0	1	0	0	0	16380	971	34	4	5625	4	TP53BP1	15	43773188	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	187455	43773188	58758204	736	3913											
MAP1A	4130	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr15	43821457	43821457	+	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	ctgggagagtagagaggctaCgggagaaggaaaaggttcag	14	5	18	4	1	1	3	1	0	0	3	1	7	1	4	0	5	1	3	0	5	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43821457C>T	ENST00000300231.5	+	4	8236	c.7786C>T	c.(7786-7788)Cgg>Tgg	p.R2596W	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2834W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2596W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2596					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGAGGCTACGGGAGAAGGA	0.662																																						.											0													36	43	41					15																	43821457		1912	4110	6022	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7786C>T	15.37:g.43821457C>T	ENSP00000300231:p.Arg2596Trp		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132937	0.37630	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01505	4.82;4.82;4.82	4.95	4.95	0.65309	.	.	.	.	.	T	0.04452	0.0122	N	0.22421	0.69	0.37754	D	0.92608	D	0.89917	1.0	D	0.67548	0.952	T	0.52660	-0.8546	9	0.87932	D	0	-12.1772	12.2202	0.54429	0.0:0.9111:0.0:0.0889	.	2596	P78559	MAP1A_HUMAN	W	2834;2596;2596	ENSP00000371462:R2834W;ENSP00000382380:R2596W;ENSP00000300231:R2596W	ENSP00000300231:R2596W	R	+	1	2	MAP1A	41608749	0.182000	0.23173	1.000000	0.80357	0.988000	0.76386	1.218000	0.32467	2.557000	0.86248	0.462000	0.41574	CGG		0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43821457	C	T	43821457	3	4	43	1	0	0	0	0	1	0	0	0	9227	527	19	1	7788	1	MAP1A	15	43821457	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	48269	43821457	58709935	737	3914											
DUOX2	50506	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr15	45396231	45396231	+	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	atacatggtaaacattagacGggacttatcctctggggagc	12	10	11	8	1	1	1	0	0	1	1	2	3	2	3	1	4	3	1	1	4	5	4	rs201955961		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:45396231G>A	ENST00000603300.1	-	20	2783	c.2581C>T	c.(2581-2583)Cgt>Tgt	p.R861C	DUOX2_ENST00000389039.6_Missense_Mutation_p.R861C	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	861	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)		AACATTAGACGGGACTTATCC	0.507																																						.											0								G	CYS/ARG	0,4396		0,0,2198	120	108	112		2581	5.2	1	15		112	2,8594	2.2+/-6.3	0,2,4296	no	missense	DUOX2	NM_014080.4	180	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	861/1549	45396231	2,12990	2198	4298	6496	SO:0001583	missense	50506			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.2581C>T	15.37:g.45396231G>A	ENSP00000475084:p.Arg861Cys		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900727	0.72754	0.0	2.33E-4	ENSG00000140279	ENST00000389039	.	.	.	5.23	5.23	0.72850	EF-hand-like domain (1);	0.399295	0.26955	N	0.021659	T	0.82001	0.4942	H	0.94964	3.605	0.44611	D	0.997587	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.953	D	0.85455	0.1163	9	0.87932	D	0	-10.1059	9.4386	0.38655	0.0:0.1432:0.6886:0.1681	.	861;423	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	C	861	.	ENSP00000373691:R861C	R	-	1	0	DUOX2	43183523	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.975000	0.56859	2.579000	0.87056	0.563000	0.77884	CGT		0.507	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45396231	G	A	45396231	3	1	43	1	0	0	0	0	1	0	0	0	4801	1116	39	1	2125	1	DUOX2	15	45396231	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1574774	45396231	57135161	738	3915											
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr15	48703307	48703307	+	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	tttttataaagtggagtactActgatttgtaatgaataggt	13	17	9	2	0	0	2	0	2	0	0	0	3	0	3	0	2	2	2	0	2	8	9			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:48703307A>G	ENST00000316623.5	-	66	8951	c.8496T>C	c.(8494-8496)agT>agC	p.S2832S	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2832					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)		GTGGAGTACTACTGATTTGTA	0.373																																						.											0													123	125	124					15																	48703307		2198	4296	6494	SO:0001819	synonymous_variant	2200			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.8496T>C	15.37:g.48703307A>G			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.373	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			G	48703307	A	G	48703307	2	3	43	1	0	0	0	0	0	0	0	1	5702	388	14	2		2	FBN1	15	48703307	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3307076	48703307	53828085	739	3916											
FBN1	2200	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr15	48755319	48755319	+	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	tgttcacagggcttgttccaCgcccggccaatgttgtagga	7	11	12	11	2	1	0	1	0	0	0	2	1	2	1	3	3	0	5	3	3	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:48755319C>T	ENST00000316623.5	-	42	5639	c.5184G>A	c.(5182-5184)gcG>gcA	p.A1728A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1728	TB 7.		A -> T (in GPHYSD2 and ACMICD). {ECO:0000269|PubMed:21683322}.|A -> V (in GPHYSD2). {ECO:0000269|PubMed:21683322}.		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)		GCTTGTTCCACGCCCGGCCAA	0.423																																						.											0													119	120	120					15																	48755319		2198	4296	6494	SO:0001819	synonymous_variant	2200			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.5184G>A	15.37:g.48755319C>T			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48755319	C	T	48755319	2	4	43	1	0	0	0	0	0	0	0	1	5702	523	19	1		1	FBN1	15	48755319	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	52012	48755319	53776073	740	3917											
CEP152	22995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	49030737	49030737	+	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	tctgtatctgaaagataaccGgatggtgaaaactgtttgga	13	12	11	5	1	2	3	0	2	2	1	2	5	2	5	1	3	2	2	1	3	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:49030737G>A	ENST00000380950.2	-	27	5029	c.4842C>T	c.(4840-4842)tcC>tcT	p.S1614S	CEP152_ENST00000399334.3_Silent_p.S1558S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1614					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAAGATAACCGGATGGTGAAA	0.378																																						.											0													100	99	99					15																	49030737		1904	4130	6034	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4842C>T	15.37:g.49030737G>A			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		A	49030737	G	A	49030737	2	1	43	1	0	0	0	0	0	0	0	1	3248	1103	39	1		1	CEP152	15	49030737	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	275418	49030737	53500655	741	3918											
SECISBP2L	9728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	49304966	49304966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggctgacttttggttaaaGgttttctattagtagagtct	9	17	11	4	0	2	2	0	1	2	1	2	2	2	2	0	3	0	4	0	3	5	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:49304966G>T	ENST00000559471.1	-	12	1873	c.1610C>A	c.(1609-1611)cCt>cAt	p.P537H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P492H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	537							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTTGGTTAAAGGTTTTCTATT	0.353																																						.											0													102	109	107					15																	49304966		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1610C>A	15.37:g.49304966G>T	ENSP00000453854:p.Pro537His		Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201942	0.58234	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72725	-0.68	5.76	5.76	0.90799	.	0.411718	0.29853	N	0.011027	T	0.53610	0.1807	N	0.08118	0	0.28199	N	0.927438	B;P	0.41569	0.412;0.755	B;B	0.41036	0.125;0.346	T	0.57207	-0.7851	10	0.52906	T	0.07	.	13.2058	0.59795	0.0726:0.0:0.9274:0.0	.	537;492	Q93073;Q93073-2	SBP2L_HUMAN;.	H	492;537	ENSP00000261847:P492H	ENSP00000261847:P492H	P	-	2	0	SECISBP2L	47092258	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.336000	0.72954	2.727000	0.93392	0.650000	0.86243	CCT		0.353	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		T	49304966	G	T	49304966	3	4	43	1	0	0	0	0	1	0	0	0	14007	1000	35	5	1723	5	SECISBP2L	15	49304966	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	274229	49304966	53226426	742	3919											
HERC1	8925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	63966709	63966709	+	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	caagaactgcagggctgctcGcatctccacgtcttcatgaa	10	9	9	13	2	3	2	1	1	2	1	5	2	3	2	1	1	3	4	1	1	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:63966709G>A	ENST00000443617.2	-	38	7765	c.7678C>T	c.(7678-7680)Cga>Tga	p.R2560*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2560					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						AGGGCTGCTCGCATCTCCACG	0.493																																						.											0													74	72	73					15																	63966709		2050	4221	6271	SO:0001587	stop_gained	8925			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.7678C>T	15.37:g.63966709G>A	ENSP00000390158:p.Arg2560*		Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	48	14.509192	0.99798	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9748	0.71264	0.0:0.0:0.8574:0.1426	.	.	.	.	X	2560	.	ENSP00000390158:R2560X	R	-	1	2	HERC1	61753762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.095000	0.57728	2.775000	0.95449	0.650000	0.86243	CGA		0.493	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	63966709	G	A	63966709	4	1	43	1	0	0	0	0	0	1	0	0	7057	1095	38	1	7071	1	HERC1	15	63966709	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	14661743	63966709	38564683	743	3920											
PLEKHO2	80301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	65157910	65157910	+	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	ctgttgaacaaggtgctgggCagtgagccggcccctgttag	7	9	15	10	1	0	2	0	2	0	0	0	2	0	2	3	3	3	4	3	3	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:65157910C>T	ENST00000323544.4	+	6	1424	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	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	432										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTGCTGGGCAGTGAGCCGG	0.612																																						.											0													46	49	48					15																	65157910		2202	4299	6501	SO:0001819	synonymous_variant	80301			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.1296C>T	15.37:g.65157910C>T			Q7L4H4|Q8WYS8	Silent	SNP	ENST00000323544.4	37	CCDS10196.1																																																																																				0.612	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		T	65157910	C	T	65157910	2	4	43	1	0	0	0	0	0	0	0	1	12085	697	25	4		4	PLEKHO2	15	65157910	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1191201	65157910	37373482	744	3921											
MEGF11	84465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	66214758	66214758	+	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	cagggcctgctgctgtgcacGcagagggggcatggctgggc	5	6	19	11	1	0	1	0	0	0	1	0	1	0	1	1	5	3	6	1	5	0	0	rs146260891	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:66214758G>A	ENST00000409699.2	-	15	2047	c.1875C>T	c.(1873-1875)tgC>tgT	p.C625C	MEGF11_ENST00000288745.3_Silent_p.C550C|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Silent_p.C625C|MEGF11_ENST00000360698.4_Silent_p.C625C|MEGF11_ENST00000395625.2_Silent_p.C550C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	625					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						TGCTGTGCACGCAGAGGGGGC	0.637													G|||	2	0.000399361	0.0015	0	5008	,	,		17955	0		0	False		,,,				2504	0					.											0								G		2,4396		0,2,2197	24	22	22		1875	-1.3	1	15	dbSNP_134	22	0,8580		0,0,4290	no	coding-synonymous	MEGF11	NM_032445.2		0,2,6487	AA,AG,GG		0.0,0.0455,0.0154		625/1045	66214758	2,12976	2199	4290	6489	SO:0001819	synonymous_variant	84465			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.1875C>T	15.37:g.66214758G>A			Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	37	CCDS10213.2																																																																																				0.637	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		A	66214758	G	A	66214758	2	1	43	1	0	0	0	0	0	0	0	1	9461	1079	38	1		1	MEGF11	15	66214758	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1056848	66214758	36316634	745	3922											
SMAD3	4088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	67358664	67358664	+	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	tggagaaggccatcaccacgCagaacgtcaacaccaagtgc	14	4	10	13	2	2	2	2	0	0	2	2	3	2	2	3	2	3	1	3	2	4	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:67358664C>T	ENST00000327367.4	+	1	482	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	58	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				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)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|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 wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|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 beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|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)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CATCACCACGCAGAACGTCAA	0.677																																						.											0													98	91	93					15																	67358664		2199	4299	6498	SO:0001587	stop_gained	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.172C>T	15.37:g.67358664C>T	ENSP00000332973:p.Gln58*		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Nonsense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	40	8.222234	0.98712	.	.	ENSG00000166949	ENST00000327367;ENST00000535241	.	.	.	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.0748	0.80962	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000332973:Q58X	Q	+	1	0	SMAD3	65145718	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.334000	0.79224	2.315000	0.78130	0.561000	0.74099	CAG		0.677	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		T	67358664	C	T	67358664	4	4	43	1	0	0	0	0	0	1	0	0	14759	711	25	4	174	4	SMAD3	15	67358664	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1143906	67358664	35172728	746	3923											
GLCE	26035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	69548276	69548276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtttccacggcgttcgaGtagtggcttcagagtggatg	7	11	14	9	3	1	1	1	0	0	1	3	3	2	2	2	3	0	4	2	3	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:69548276G>T	ENST00000261858.2	+	3	359	c.131G>T	c.(130-132)aGt>aTt	p.S44I	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	44					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CGGCGTTCGAGTAGTGGCTTC	0.438																																						.											0													101	97	98					15																	69548276		2200	4298	6498	SO:0001583	missense	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.131G>T	15.37:g.69548276G>T	ENSP00000261858:p.Ser44Ile		Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841090	0.32513	.	.	ENSG00000138604	ENST00000261858	T	0.32515	1.45	5.3	3.39	0.38822	.	0.732889	0.14624	N	0.308237	T	0.16557	0.0398	N	0.08118	0	0.30766	N	0.743522	B	0.12013	0.005	B	0.09377	0.004	T	0.09465	-1.0673	10	0.39692	T	0.17	-12.9551	11.3542	0.49607	0.1588:0.0:0.8412:0.0	.	44	O94923	GLCE_HUMAN	I	44	ENSP00000261858:S44I	ENSP00000261858:S44I	S	+	2	0	GLCE	67335330	0.027000	0.19231	1.000000	0.80357	0.886000	0.51366	0.851000	0.27751	1.361000	0.45981	0.655000	0.94253	AGT		0.438	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		T	69548276	G	T	69548276	3	4	43	1	0	0	0	0	1	0	0	0	6432	1029	36	5	133	5	GLCE	15	69548276	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2189612	69548276	32983116	747	3924											
MYO9A	4649	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr15	72292238	72292238	+	Missense_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	gcttttctcccactgtcaccGtcttccttgtaactaatgct	6	16	5	14	1	3	0	1	0	2	0	5	0	4	0	3	0	2	3	3	0	2	6	rs148826761		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:72292238G>A	ENST00000356056.5	-	9	1896	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	MYO9A_ENST00000444904.1_Missense_Mutation_p.T456M|MYO9A_ENST00000424560.1_Missense_Mutation_p.T475M|MYO9A_ENST00000564571.1_Missense_Mutation_p.T475M|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Missense_Mutation_p.T70M	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	475	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						CACTGTCACCGTCTTCCTTGT	0.328																																						.											0								G	MET/THR	0,4398		0,0,2199	166	151	156		1424	5.7	1	15	dbSNP_134	156	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYO9A	NM_006901.2	81	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	475/2549	72292238	1,12991	2199	4297	6496	SO:0001583	missense	4649			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.1424C>T	15.37:g.72292238G>A	ENSP00000348349:p.Thr475Met		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993643	0.93167	0.0	1.16E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.86627	-2.15;-2.15;-2.15	5.73	5.73	0.89815	Myosin head, motor domain (2);	.	.	.	.	D	0.88614	0.6484	N	0.17594	0.5	0.80722	D	1	D;P;D;D	0.89917	1.0;0.884;0.988;0.974	D;B;P;P	0.85130	0.997;0.422;0.576;0.871	D	0.87321	0.2318	9	0.30078	T	0.28	.	19.4942	0.95065	0.0:0.0:1.0:0.0	.	456;475;456;475	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	M	475;475;456;456;475	ENSP00000348349:T475M;ENSP00000399162:T475M;ENSP00000398250:T456M	ENSP00000261864:T456M	T	-	2	0	MYO9A	70079292	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.145000	0.94634	2.706000	0.92434	0.557000	0.71058	ACG		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		A	72292238	G	A	72292238	3	1	43	1	0	0	0	0	1	0	0	0	10084	1145	40	1	6358	1	MYO9A	15	72292238	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2743962	72292238	30239154	748	3925											
HCN4	10021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	73615982	73615982	+	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	ccttggcgtctgcccggcacCgaggttgcccagcccagatc	5	7	12	17	3	1	1	0	0	1	1	2	2	1	1	5	3	3	2	5	3	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:73615982C>T	ENST00000261917.3	-	8	3445	c.2452G>A	c.(2452-2454)Ggt>Agt	p.G818S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	818					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)		TGCCCGGCACCGAGGTTGCCC	0.697																																						.											0													26	30	29					15																	73615982		2194	4295	6489	SO:0001583	missense	10021			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.2452G>A	15.37:g.73615982C>T	ENSP00000261917:p.Gly818Ser		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	8.628	0.892994	0.17613	.	.	ENSG00000138622	ENST00000261917	T	0.78003	-1.14	3.59	3.59	0.41128	.	.	.	.	.	T	0.69780	0.3149	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	P	0.45343	0.477	T	0.59268	-0.7486	9	0.08599	T	0.76	.	10.7797	0.46371	0.1896:0.8104:0.0:0.0	.	818	Q9Y3Q4	HCN4_HUMAN	S	818	ENSP00000261917:G818S	ENSP00000261917:G818S	G	-	1	0	HCN4	71403035	0.254000	0.23992	0.173000	0.22940	0.177000	0.22998	1.910000	0.39927	1.828000	0.53243	0.462000	0.41574	GGT		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73615982	C	T	73615982	3	4	43	1	0	0	0	0	1	0	0	0	6999	652	23	1	1163	1	HCN4	15	73615982	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1323744	73615982	28915410	749	3926											
PML	5371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	74315583	74315583	+	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	gtgcagaggatgaagtgctaCgcctcggaccaggaggtgct	9	7	16	9	2	0	2	0	1	0	1	1	5	0	5	2	4	4	3	2	4	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74315583C>T	ENST00000268058.3	+	3	1113	c.1017C>T	c.(1015-1017)taC>taT	p.Y339Y	PML_ENST00000395135.3_Silent_p.Y339Y|PML_ENST00000268059.6_Silent_p.Y339Y|PML_ENST00000569161.1_3'UTR|PML_ENST00000565898.1_Silent_p.Y339Y|PML_ENST00000436891.3_Silent_p.Y339Y|PML_ENST00000567543.1_Silent_p.Y339Y|PML_ENST00000569965.1_Silent_p.Y339Y|PML_ENST00000395132.2_Silent_p.Y339Y|PML_ENST00000354026.6_Silent_p.Y339Y|PML_ENST00000563500.1_Silent_p.Y339Y|PML_ENST00000359928.4_Silent_p.Y339Y|PML_ENST00000564428.1_Silent_p.Y339Y|PML_ENST00000569477.1_Silent_p.Y339Y|PML_ENST00000435786.2_Silent_p.Y339Y	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	339					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						TGAAGTGCTACGCCTCGGACC	0.692			T	"RARA, PAX5"	"APL, ALL"																																	.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													26	31	30					15																	74315583		2193	4284	6477	SO:0001819	synonymous_variant	5371			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.1017C>T	15.37:g.74315583C>T			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	CCDS10255.1																																																																																				0.692	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74315583	C	T	74315583	2	4	43	1	0	0	0	0	0	0	0	1	12135	547	19	1		1	PML	15	74315583	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	699601	74315583	28215809	750	3927											
PML	5371	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr15	74327978	74327978	+	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	tcagcccaccccaccggataCgaggggctgtgcgatcccgc	7	5	12	17	4	1	0	1	0	0	0	2	3	2	1	5	3	3	1	5	3	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74327978C>T	ENST00000268058.3	+	7	1806				PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Nonsense_Mutation_p.R726*|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Nonsense_Mutation_p.R678*|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR	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						CCACCGGATACGAGGGGCTGT	0.627			T	"RARA, PAX5"	"APL, ALL"																																	.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													59	62	61					15																	74327978		2198	4296	6494	SO:0001627	intron_variant	5371			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+1107C>T	15.37:g.74327978C>T			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	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681459	0.68042	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	2.93	-1.43	0.08884	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2058	0.03935	0.1872:0.3287:0.3666:0.1176	.	.	.	.	X	726;678	.	ENSP00000268059:R726X	R	+	1	2	PML	72115031	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.282000	0.08445	-0.309000	0.08779	0.462000	0.41574	CGA		0.627	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74327978	C	T	74327978	1	4	43	0	1	0	0	0	0	0	0	0	12135	528	19	1		1	PML	15	74327978	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12395	74327978	28203414	751	3928											
CCDC33	80125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	74554873	74554873	+	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	agcccctatctggggggacaCggtgaatgtggagatccaag	10	7	15	9	1	1	2	0	1	1	1	2	4	2	3	3	5	1	0	3	5	3	1	rs201382754		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74554873C>T	ENST00000398814.3	+	3	709	c.278C>T	c.(277-279)aCg>aTg	p.T93M	CCDC33_ENST00000321288.5_Missense_Mutation_p.T296M	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	296										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						TGGGGGGACACGGTGAATGTG	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18790	0		0	False		,,,				2504	0					.											0								C	MET/THR	4,4038		0,4,2017	31	34	33		278	3.8	1	15		33	0,8320		0,0,4160	yes	missense	CCDC33	NM_025055.3	81	0,4,6177	TT,TC,CC		0.0,0.099,0.0324	probably-damaging	93/756	74554873	4,12358	2021	4160	6181	SO:0001583	missense	80125			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.278C>T	15.37:g.74554873C>T	ENSP00000381795:p.Thr93Met		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902160	0.52227	9.9E-4	0.0	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.70631	-0.5;-0.5	4.67	3.75	0.43078	.	0.000000	0.38005	U	0.001850	T	0.78104	0.4231	M	0.65975	2.015	0.33452	D	0.583762	D	0.89917	1.0	D	0.66847	0.947	T	0.82020	-0.0664	10	0.48119	T	0.1	.	7.77	0.29001	0.0:0.8872:0.0:0.1128	.	93	Q8N5R6-6	.	M	296;93	ENSP00000325012:T296M;ENSP00000381795:T93M	ENSP00000325012:T296M	T	+	2	0	CCDC33	72341926	0.099000	0.21834	0.983000	0.44433	0.675000	0.39556	0.539000	0.23175	2.141000	0.66446	0.462000	0.41574	ACG		0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		T	74554873	C	T	74554873	3	4	43	1	0	0	0	0	1	0	0	0	2806	536	19	1	288	1	CCDC33	15	74554873	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	226895	74554873	27976519	752	3929											
LMAN1L	79748	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	75108525	75108525	+	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	cctgggcctggaggaagtgcGgctgacgccatccatgagga	8	6	16	11	2	0	2	0	2	0	0	1	5	1	5	4	5	1	1	4	5	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75108525G>A	ENST00000309664.5	+	2	342	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R68Q	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	68	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						GAGGAAGTGCGGCTGACGCCA	0.642																																						.											0													31	26	27					15																	75108525		2159	4232	6391	SO:0001583	missense	79748			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.203G>A	15.37:g.75108525G>A	ENSP00000310431:p.Arg68Gln		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114969	0.94339	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.67171	-0.25;-0.25	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000005	D	0.84520	0.5490	M	0.89715	3.055	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87546	0.2462	10	0.87932	D	0	.	14.5567	0.68106	0.0:0.0:1.0:0.0	.	68;68	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	Q	68	ENSP00000310431:R68Q;ENSP00000369031:R68Q	ENSP00000310431:R68Q	R	+	2	0	LMAN1L	72895578	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.605000	0.54088	2.508000	0.84585	0.484000	0.47621	CGG		0.642	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			A	75108525	G	A	75108525	3	1	43	1	0	0	0	0	1	0	0	0	8837	1116	39	1	209	1	LMAN1L	15	75108525	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	553652	75108525	27422867	753	3930											
SNX33	257364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	75949418	75949418	+	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	gtgggtttcgccctgcaggcCgagatgaaccacttccacca	8	8	11	14	2	0	2	0	1	0	1	2	3	1	2	5	2	2	2	5	2	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75949418C>T	ENST00000308527.5	+	2	2784	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	529	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CCCTGCAGGCCGAGATGAACC	0.627																																						.											0													99	82	88					15																	75949418		2197	4294	6491	SO:0001819	synonymous_variant	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1587C>T	15.37:g.75949418C>T			B1NM17	Silent	SNP	ENST00000308527.5	37	CCDS10283.1																																																																																				0.627	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		T	75949418	C	T	75949418	2	4	43	1	0	0	0	0	0	0	0	1	14903	639	23	1		1	SNX33	15	75949418	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	840893	75949418	26581974	754	3931											
CSPG4	1464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	75980709	75980709	+	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	aggacattggtgaggacaggCgcatctgggtcaccaccaat	11	7	13	10	1	2	1	1	1	1	0	2	3	2	3	2	5	0	1	2	5	1	1	rs144209551		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75980709C>T	ENST00000308508.5	-	3	2789	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	899	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {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						TGAGGACAGGCGCATCTGGGT	0.567																																						.											0								C		0,4392		0,0,2196	69	65	67		2697	-10	0	15	dbSNP_134	67	2,8586		0,2,4292	no	coding-synonymous	CSPG4	NM_001897.4		0,2,6488	TT,TC,CC		0.0233,0.0,0.0154		899/2323	75980709	2,12978	2196	4294	6490	SO:0001819	synonymous_variant	1464			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.2697G>A	15.37:g.75980709C>T			D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																				0.567	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75980709	C	T	75980709	2	4	43	1	0	0	0	0	0	0	0	1	3960	755	27	1		1	CSPG4	15	75980709	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	31291	75980709	26550683	755	3932											
TSPAN3	10099	hgsc.bcm.edu	37	chr15	77363263	77363263	+	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	gaggttgagaaagaccagcaCggtcttggaggaggtgatgc	11	7	17	6	1	1	3	0	2	1	2	1	7	1	5	1	5	2	2	1	5	1	2	rs111428129	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:77363263C>T	ENST00000267970.4	-	1	307	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	TSPAN3_ENST00000558745.1_Intron|TSPAN3_ENST00000561277.1_Intron|TSPAN3_ENST00000559494.1_Missense_Mutation_p.V12M|TSPAN3_ENST00000424443.3_Missense_Mutation_p.V12M|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000346495.2_Missense_Mutation_p.V12M|RP11-797A18.6_ENST00000602975.1_RNA	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	12						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		AAGACCAGCACGGTCTTGGAG	0.756													C|||	12	0.00239617	0	0.0014	5008	,	,		7377	0		0.0099	False		,,,				2504	0.001					.											0								C	MET/VAL,MET/VAL,MET/VAL	3,3785		0,3,1891	13	14	13		34,34,34	5.6	1	15	dbSNP_132	13	29,7105		0,29,3538	yes	missense,missense,missense	TSPAN3	NM_001168412.1,NM_005724.5,NM_198902.2	21,21,21	0,32,5429	TT,TC,CC		0.4065,0.0792,0.293	benign,benign,benign	12/190,12/254,12/229	77363263	32,10890	1894	3567	5461	SO:0001583	missense	10099				CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"Tetraspanins"	17752	protein-coding gene	gene with protein product		613134	"transmembrane 4 superfamily member 8"	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.34G>A	15.37:g.77363263C>T	ENSP00000267970:p.Val12Met		A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	Missense_Mutation	SNP	ENST00000267970.4	37	CCDS10292.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	32	5.138719	0.94560	7.92E-4	0.004065	ENSG00000140391	ENST00000267970;ENST00000424443;ENST00000346495	T;T;T	0.80653	-1.4;0.53;-1.4	5.58	5.58	0.84498	.	0.392961	0.24808	N	0.035429	T	0.78566	0.4303	L	0.45137	1.4	0.80722	D	1	D;P;B	0.59357	0.985;0.535;0.368	P;B;B	0.55749	0.783;0.169;0.169	T	0.79694	-0.1696	10	0.38643	T	0.18	.	16.4874	0.84188	0.0:1.0:0.0:0.0	.	12;12;12	B4DP19;A6NEH4;O60637	.;.;TSN3_HUMAN	M	12	ENSP00000267970:V12M;ENSP00000407243:V12M;ENSP00000341329:V12M	ENSP00000267970:V12M	V	-	1	0	TSPAN3	75150318	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.131000	0.50515	2.619000	0.88677	0.563000	0.77884	GTG		0.756	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3	NM_005724		T	77363263	C	T	77363263	3	4	43	1	0	0	0	0	1	0	0	0	16642	536	19	1	755	1	TSPAN3	15	77363263	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1382554	77363263	25168129	756	3933											
RASGRF1	5923	mdanderson.org;bcgsc.ca	37	chr15	79324607	79324607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtactggtggttgcggAcgaactcttggtagatgttg	6	13	16	6	2	1	1	0	0	1	1	1	3	1	2	0	5	3	5	0	5	3	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:79324607A>G	ENST00000419573.3	-	7	1284	c.1010T>C	c.(1009-1011)gTc>gCc	p.V337A	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V337A	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	337	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						GTGGTTGCGGACGAACTCTTG	0.587																																						.											0													182	108	133					15																	79324607		2196	4293	6489	SO:0001583	missense	5923			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.1010T>C	15.37:g.79324607A>G	ENSP00000405963:p.Val337Ala		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303454	0.81136	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.64618	-0.11	4.35	4.35	0.52113	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	T	0.74906	0.3778	M	0.74389	2.26	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.81914	0.986;0.991;0.995;0.984	T	0.72757	-0.4197	10	0.22706	T	0.39	.	11.5552	0.50743	1.0:0.0:0.0:0.0	.	337;337;337;337	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	A	337	ENSP00000405963:V337A	ENSP00000378224:V337A	V	-	2	0	RASGRF1	77111662	1.000000	0.71417	0.656000	0.29637	0.959000	0.62525	8.915000	0.92740	1.833000	0.53350	0.402000	0.26972	GTC		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		G	79324607	A	G	79324607	3	3	43	1	0	0	0	0	1	0	0	0	13072	275	10	2	2899	2	RASGRF1	15	79324607	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	1961344	79324607	23206785	757	3934											
MESDC1	59274	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr15	81295560	81295560	+	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	gcgcagcaccccgacgggggCgccaagatgtcggaccacag	9	2	15	15	5	0	1	0	0	0	1	1	3	0	2	4	3	1	2	4	3	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81295560C>T	ENST00000267984.2	+	1	2266	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	316										endometrium(1)|lung(2)	3						CCGACGGGGGCGCCAAGATGT	0.672																																						.											0													11	14	13					15																	81295560		2197	4294	6491	SO:0001819	synonymous_variant	59274			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.948C>T	15.37:g.81295560C>T				Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																				0.672	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		T	81295560	C	T	81295560	2	4	43	1	0	0	0	0	0	0	0	1	9480	755	27	1		1	MESDC1	15	81295560	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1970953	81295560	21235832	758	3935											
TMC3	342125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	81630237	81630237	+	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	gctgagctttagagaccgtgCgatgctctggagataataga	11	10	13	7	2	1	4	0	1	1	3	1	7	1	4	1	1	3	3	1	1	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81630237C>T	ENST00000359440.5	-	19	2245	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A705T|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGAGACCGTGCGATGCTCTGG	0.443																																						.											0													155	157	156					15																	81630237		2013	4183	6196	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2110G>A	15.37:g.81630237C>T	ENSP00000352413:p.Ala704Thr			Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072804	0.76415	.	.	ENSG00000188869	ENST00000359440	T	0.66280	-0.2	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.40543	1.245	0.54753	D	0.999985	D;D	0.55385	0.965;0.971	B;P	0.51833	0.411;0.681	T	0.62378	-0.6867	10	0.35671	T	0.21	-18.4032	15.8865	0.79255	0.0:1.0:0.0:0.0	.	704;704	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	T	704	ENSP00000352413:A704T	ENSP00000352413:A704T	A	-	1	0	TMC3	79417292	1.000000	0.71417	0.994000	0.49952	0.760000	0.43138	6.445000	0.73456	2.390000	0.81377	0.655000	0.94253	GCA		0.443	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		T	81630237	C	T	81630237	3	4	43	1	0	0	0	0	1	0	0	0	15983	768	27	1	1208	1	TMC3	15	81630237	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	334677	81630237	20901155	759	3936											
TMC3	342125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	81637207	81637207	+	Missense_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	tggtataagctgaaatgctgGtctcttccaaggcccatgtg	9	12	11	9	0	1	1	0	1	1	0	3	1	2	1	2	3	2	3	2	3	4	3	rs199835792		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81637207G>A	ENST00000359440.5	-	13	1553	c.1418C>T	c.(1417-1419)aCc>aTc	p.T473I	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.T474I|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGAAATGCTGGTCTCTTCCAA	0.512																																						.											0								G	ILE/THR	0,3932		0,0,1966	118	113	115		1418	2.6	0	15		115	5,8309		0,5,4152	yes	missense	TMC3	NM_001080532.1	89	0,5,6118	AA,AG,GG		0.0601,0.0,0.0408	benign	473/1101	81637207	5,12241	1966	4157	6123	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1418C>T	15.37:g.81637207G>A	ENSP00000352413:p.Thr473Ile			Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	6.015	0.371195	0.11409	0.0	6.01E-4	ENSG00000188869	ENST00000359440	T	0.63744	-0.06	3.51	2.6	0.31112	.	1.197350	0.05767	N	0.605985	T	0.54727	0.1876	L	0.51422	1.61	0.09310	N	1	B;B	0.14438	0.0;0.01	B;B	0.14023	0.002;0.01	T	0.42749	-0.9433	10	0.41790	T	0.15	-2.3549	4.5851	0.12279	0.1137:0.0:0.6126:0.2737	.	473;473	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	I	473	ENSP00000352413:T473I	ENSP00000352413:T473I	T	-	2	0	TMC3	79424262	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.211000	0.17474	1.049000	0.40321	-0.136000	0.14681	ACC		0.512	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		A	81637207	G	A	81637207	3	1	43	1	0	0	0	0	1	0	0	0	15983	1261	44	3	1924	3	TMC3	15	81637207	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6970	81637207	20894185	760	3937											
HOMER2	9455	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr15	83527811	83527811	+	Missense_Mutation	SNP	T	T	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	aggcaatcttcagcttgtcaTtctcagacttcaggtgtgtg	8	14	10	9	0	5	1	4	0	2	1	6	1	5	1	0	2	1	2	0	2	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:83527811T>C	ENST00000304231.8	-	5	689	c.497A>G	c.(496-498)aAt>aGt	p.N166S	HOMER2_ENST00000399166.2_Missense_Mutation_p.N155S|HOMER2_ENST00000450735.2_Missense_Mutation_p.N155S|HOMER2_ENST00000426485.1_Missense_Mutation_p.N166S	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	166					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CAGCTTGTCATTCTCAGACTT	0.502																																						.											0													134	139	137					15																	83527811		2008	4168	6176	SO:0001583	missense	9455			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.497A>G	15.37:g.83527811T>C	ENSP00000305632:p.Asn166Ser		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	t	13.46	2.244416	0.39697	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.77358	2.11;-1.09;2.4;2.45	5.92	5.92	0.95590	.	0.204008	0.49916	D	0.000127	T	0.77798	0.4184	M	0.80982	2.52	0.48511	D	0.999668	B;P;P;P	0.46142	0.041;0.835;0.873;0.835	B;B;B;B	0.38156	0.096;0.18;0.266;0.238	T	0.79125	-0.1932	10	0.33940	T	0.23	.	15.5454	0.76093	0.0:0.0:0.0:1.0	.	155;166;155;166	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	S	166;155;166;155	ENSP00000305632:N166S;ENSP00000407634:N155S;ENSP00000394293:N166S;ENSP00000382119:N155S	ENSP00000305632:N166S	N	-	2	0	HOMER2	81324865	1.000000	0.71417	0.933000	0.37362	0.573000	0.36030	7.135000	0.77276	2.260000	0.74910	0.529000	0.55759	AAT		0.502	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			C	83527811	T	C	83527811	3	2	43	1	0	0	0	0	1	0	0	0	7279	1493	52	4	587	4	HOMER2	15	83527811	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1890604	83527811	19003581	761	3938											
ALPK3	57538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	85403008	85403008	+	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	tagggtctccactctgcagcGcaggggatgaggggccggcg	6	6	18	11	3	2	1	0	1	2	0	3	2	2	2	2	6	2	2	2	6	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:85403008G>A	ENST00000258888.5	+	8	4740	c.4573G>A	c.(4573-4575)Gca>Aca	p.A1525T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1525	Ig-like 2.				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)			ACTCTGCAGCGCAGGGGATGA	0.657																																						.											0													20	19	19					15																	85403008		2202	4297	6499	SO:0001630	splice_region_variant	57538			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.4572-1G>A	15.37:g.85403008G>A			Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006425	0.93287	.	.	ENSG00000136383	ENST00000258888	T	0.40476	1.03	5.45	5.45	0.79879	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139747	0.49305	D	0.000153	T	0.56426	0.1984	L	0.55481	1.735	0.44268	D	0.997126	D	0.76494	0.999	D	0.66084	0.941	T	0.58476	-0.7630	10	0.87932	D	0	-6.3153	11.8267	0.52271	0.0:0.0:0.8249:0.1751	.	1525	Q96L96	ALPK3_HUMAN	T	1525	ENSP00000258888:A1525T	ENSP00000258888:A1525T	A	+	1	0	ALPK3	83204012	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.260000	0.51523	2.564000	0.86499	0.563000	0.77884	GCA		0.657	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	Missense_Mutation	A	85403008	G	A	85403008	5	1	43	1	0	0	0	0	0	0	1	0	546	1101	38	1	4603	1	ALPK3	15	85403008	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1875197	85403008	17128384	762	3939											
AGBL1	123624	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	86807816	86807816	+	Missense_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	cagatgcctgggacgtagatGcaattttctgcccaaggatg	10	10	12	9	1	1	2	0	0	1	2	1	4	1	4	2	2	3	2	2	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:86807816G>A	ENST00000441037.2	+	10	1371	c.1276G>A	c.(1276-1278)Gca>Aca	p.A426T	AGBL1_ENST00000389298.3_Missense_Mutation_p.A157T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A426T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	426					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGACGTAGATGCAATTTTCTG	0.443																																						.											0													102	103	103					15																	86807816		1884	4119	6003	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1276G>A	15.37:g.86807816G>A	ENSP00000413001:p.Ala426Thr		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525621	0.27299	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.09817	2.94;2.94	5.44	0.615	0.17608	Armadillo-type fold (1);	1.706500	0.02572	N	0.097924	T	0.11965	0.0291	L	0.56769	1.78	0.09310	N	1	P;B;B	0.37276	0.589;0.053;0.004	B;B;B	0.33392	0.163;0.022;0.002	T	0.33007	-0.9885	10	0.25751	T	0.34	0.0701	6.5659	0.22511	0.5759:0.0:0.4241:0.0	.	125;157;426	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	T	455;426;157	ENSP00000397173:A426T;ENSP00000373949:A157T	ENSP00000373949:A157T	A	+	1	0	AGBL1	84608820	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.445000	0.06845	0.286000	0.22352	0.650000	0.86243	GCA		0.443	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86807816	G	A	86807816	3	1	43	1	0	0	0	0	1	0	0	0	375	1319	46	4	1310	4	AGBL1	15	86807816	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1404808	86807816	15723576	763	3940											
NTRK3	4916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	88420245	88420245	+	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	agatctccttgatgttcaacCgctgctgtggttccctctgc	5	14	9	13	1	3	2	1	1	2	1	5	2	4	2	3	1	3	4	3	1	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:88420245C>T	ENST00000360948.2	-	19	2602	c.2441G>A	c.(2440-2442)cGg>cAg	p.R814Q	NTRK3_ENST00000394480.2_Missense_Mutation_p.R800Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.R792Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.R800Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.R806Q	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	814	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATGTTCAACCGCTGCTGTGG	0.547			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													155	123	134					15																	88420245		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2441G>A	15.37:g.88420245C>T	ENSP00000354207:p.Arg814Gln		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501625	0.96371	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	5.58	5.58	0.84498	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	0.99426	0.9797	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.99;1.0	D	0.98364	1.0550	10	0.87932	D	0	.	18.1313	0.89602	0.0:1.0:0.0:0.0	.	792;800;814	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	Q	800;814;806;800	ENSP00000377990:R800Q;ENSP00000354207:R814Q;ENSP00000350356:R806Q;ENSP00000347397:R800Q	ENSP00000347397:R800Q	R	-	2	0	NTRK3	86221249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.636000	0.83301	2.640000	0.89533	0.561000	0.74099	CGG		0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				T	88420245	C	T	88420245	3	4	43	1	0	0	0	0	1	0	0	0	10708	652	23	1	82	1	NTRK3	15	88420245	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1612429	88420245	14111147	764	3941											
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	99454671	99454671	+	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	accgtttactacaaggaagcGtgagtttctgctttgggtga	9	13	12	7	2	1	2	0	2	1	0	1	3	1	3	1	2	4	3	1	2	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:99454671G>A	ENST00000268035.6	+	7	2200		c.e7+1		IGF1R_ENST00000558762.1_Splice_Site	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor						axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ACAAGGAAGCGTGAGTTTCTG	0.537																																						.											0													158	141	147					15																	99454671		2197	4297	6494	SO:0001630	splice_region_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1589+1G>A	15.37:g.99454671G>A			B1B5Y2|Q14CV2|Q9UCC0	Splice_Site	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005527	0.93287	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGF1R	97272194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.778000	0.99011	2.837000	0.97791	0.655000	0.94253	.		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	Intron	A	99454671	G	A	99454671	5	1	43	1	0	0	0	0	0	0	1	0	7571	1159	40	1	1616	1	IGF1R	15	99454671	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	11034426	99454671	3076721	765	3942											
OR4F15	390649	broad.mit.edu	37	chr15	102359272	102359272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggaacaaagacatgAaagtggcaatgaggagactg	17	6	12	6	0	1	4	1	2	0	2	1	6	1	5	0	3	1	1	0	3	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:102359272A>G	ENST00000332238.4	+	1	907	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	295						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(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAAAGACATGAAAGTGGCAAT	0.383																																						.											0													67	58	61					15																	102359272		2203	4300	6503	SO:0001583	missense	390649			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.883A>G	15.37:g.102359272A>G	ENSP00000333184:p.Lys295Glu		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344493	0.41498	.	.	ENSG00000182854	ENST00000332238	T	0.41065	1.01	5.46	4.32	0.51571	.	.	.	.	.	T	0.62245	0.2412	M	0.93016	3.37	0.29484	N	0.8561	P	0.45283	0.855	P	0.49597	0.616	T	0.66015	-0.6028	8	.	.	.	.	10.9232	0.47178	0.8426:0.1574:0.0:0.0	.	295	Q8NGB8	O4F15_HUMAN	E	295	ENSP00000333184:K295E	.	K	+	1	0	OR4F15	100176795	0.985000	0.35326	0.848000	0.33437	0.046000	0.14306	3.710000	0.54860	1.067000	0.40740	0.528000	0.53228	AAA		0.383	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		G	102359272	A	G	102359272	3	3	43	1	0	0	0	0	1	0	0	0	11061	247	9	4	885	4	OR4F15	15	102359272	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2904601	102359272	172120	766	3943											
RHBDL1	9028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	727990	727990	+	Missense_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	acggcaccttcctgctcttcGccgtcttctggaacgtcttc	4	13	8	16	4	4	0	0	0	4	0	7	1	5	1	3	2	2	2	3	2	1	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:727990G>A	ENST00000219551.2	+	7	1282	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	STUB1_ENST00000219548.4_5'Flank|LA16c-313D11.9_ENST00000567091.1_RNA|RHBDL1_ENST00000352681.3_Missense_Mutation_p.A354T|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_5'Flank			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	419					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)				CCTGCTCTTCGCCGTCTTCTG	0.687																																						.											0													53	46	49					16																	727990		2195	4296	6491	SO:0001583	missense	9028			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.1255G>A	16.37:g.727990G>A	ENSP00000219551:p.Ala419Thr		A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620438	0.87460	.	.	ENSG00000103269	ENST00000352681;ENST00000219551	T;T	0.38401	1.21;1.14	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65684	0.937;0.925	T	0.54603	-0.8269	10	0.48119	T	0.1	-19.5669	14.4906	0.67647	0.0:0.0:1.0:0.0	.	419;354	O75783;O75783-2	RHBL1_HUMAN;.	T	354;419	ENSP00000344206:A354T;ENSP00000219551:A419T	ENSP00000219551:A419T	A	+	1	0	RHBDL1	667991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.376000	0.97181	1.998000	0.58463	0.561000	0.74099	GCC		0.687	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		A	727990	G	A	727990	3	1	43	1	0	0	0	0	1	0	0	0	13321	1087	38	1	1281	1	RHBDL1	16	727990	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		727990	89626763	767	3944											
MSLN	10232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	818456	818456	+	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	gcggaggagcggcaccgcccGgtgcgggactggatcctacg	6	4	18	13	6	0	0	0	0	0	0	1	4	1	4	3	6	3	1	3	6	1	1	rs201466189	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:818456G>A	ENST00000382862.3	+	16	1793	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P	MIR662_ENST00000384847.1_RNA|MSLN_ENST00000563941.1_Silent_p.P558P|MSLN_ENST00000566549.1_Silent_p.P558P|MSLN_ENST00000545450.2_Silent_p.P558P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	566					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)				GGCACCGCCCGGTGCGGGACT	0.687																																						.											0								G	,,	0,4354		0,0,2177	23	29	27		1674,1674,1698	-8.5	0	16		27	1,8563	1.2+/-3.3	0,1,4281	no	coding-synonymous,coding-synonymous,coding-synonymous	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	,,	0,1,6458	AA,AG,GG		0.0117,0.0,0.0077	,,	558/623,558/623,566/631	818456	1,12917	2177	4282	6459	SO:0001819	synonymous_variant	10232			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.1698G>A	16.37:g.818456G>A			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																				0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			A	818456	G	A	818456	2	1	43	1	0	0	0	0	0	0	0	1	9881	1103	39	1		1	MSLN	16	818456	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	90466	818456	89536297	768	3945											
TPSAB1	7177	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr16	1291624	1291624	+	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	agccacgtccacacggtcacCctgccccctgcctcagagac	8	5	8	20	2	2	1	2	0	0	1	3	2	3	1	6	1	3	0	6	1	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1291624C>G	ENST00000338844.3	+	4	456	c.423C>G	c.(421-423)acC>acG	p.T141T	TPSAB1_ENST00000461509.2_Silent_p.T148T	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	141	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> A (in dbSNP:rs1800992). {ECO:0000269|PubMed:10898108}.|T -> M (in allele alpha).		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				ACACGGTCACCCTGCCCCCTG	0.662																																						.											0													31	25	27					16																	1291624		2198	4297	6495	SO:0001819	synonymous_variant	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.423C>G	16.37:g.1291624C>G			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																				0.662	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		G	1291624	C	G	1291624	2	3	43	1	0	0	0	0	0	0	0	1	16420	610	22	5		5	TPSAB1	16	1291624	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	473168	1291624	89063129	769	3946											
TPSD1	23430	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr16	1306310	1306311	+	Missense_Mutation	DNP	GC	GC	AT																															ccttgctccccagatgctgaGcctgctgctgctggcgctgc																								rs201494832		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306310_1306311GC>AT	ENST00000211076.3	+	1	177_178	c.29_30GC>AT	c.(28-30)aGC>aAT	p.S10N	TPSD1_ENST00000397534.2_Missense_Mutation_p.S3N|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	10						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S10I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CAGATGCTGAGCCTGCTGCTGC	0.683																																						.											1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	Exception_encountered	16.37:g.1306310_1306311delinsAT	ENSP00000211076:p.Ser10Asn		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	DNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.683	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			AT	1306311	GC	AT	1306310	3	1	43	1	0	0	0	0	1	0	0	0	16422	971	34	4	31	4	TPSD1	16	1306310	Missense_Mutation	DNP	GC	TCGA-KN-8428-01A-11D-2310-10	14686	1306310	89048443	770	3947											
TPSD1	23430	ucsc.edu;mdanderson.org	37	chr16	1306954	1306954	+	Silent	SNP	C	C	G																															ctgctggagctggaggagccCgtgaacatctccagccacat																								rs61729110	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306954C>G	ENST00000211076.3	+	3	559	c.411C>G	c.(409-411)ccC>ccG	p.P137P	TPSD1_ENST00000397534.2_Silent_p.P130P|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGGAGGAGCCCGTGAACATCT	0.667													c|||	60	0.0119808	0.0454	0	5008	,	,		18890	0		0	False		,,,				2504	0					.											0								C		166,4232	100.7+/-139.4	2,162,2035	58	58	58		411	-1.9	0.1	16	dbSNP_129	58	1,8595		0,1,4297	no	coding-synonymous	TPSD1	NM_012217.2		2,163,6332	GG,GC,CC		0.0116,3.7744,1.2852		137/243	1306954	167,12827	2199	4298	6497	SO:0001819	synonymous_variant	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.411C>G	16.37:g.1306954C>G			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.667	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			G	1306954	C	G	1306954	2	3	43	1	0	0	0	0	0	0	0	1	16422	639	23	5		5	TPSD1	16	1306954	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	644	1306954	89047799	771	3948	100	2									
TPSD1	23430	ucsc.edu;bcgsc.ca	37	chr16	1306961	1306961	+	Missense_Mutation	SNP	A	A	G																															agctggaggagcccgtgaacAtctccagccacatccacacg																								rs139077060		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306961A>G	ENST00000211076.3	+	3	566	c.418A>G	c.(418-420)Atc>Gtc	p.I140V	TPSD1_ENST00000397534.2_Missense_Mutation_p.I133V|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	140	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCGTGAACATCTCCAGCCA	0.652																																						.											0								A	VAL/ILE	1,4397		0,1,2198	52	51	51		418	-1.8	0.1	16	dbSNP_134	51	0,8596		0,0,4298	no	missense	TPSD1	NM_012217.2	29	0,1,6496	GG,GA,AA		0.0,0.0227,0.0077	benign	140/243	1306961	1,12993	2199	4298	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.418A>G	16.37:g.1306961A>G	ENSP00000211076:p.Ile140Val		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.254975	0.00022	2.27E-4	0.0	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.81499	-1.5;-1.5	2.55	-1.82	0.07857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.511430	0.04283	N	0.344227	T	0.62441	0.2428	N	0.17674	0.51	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.11329	0.001;0.006	T	0.41822	-0.9487	10	0.15499	T	0.54	.	2.4188	0.04443	0.3756:0.0:0.2912:0.3332	.	124;140	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	V	133;140	ENSP00000380668:I133V;ENSP00000211076:I140V	ENSP00000211076:I140V	I	+	1	0	TPSD1	1246962	0.000000	0.05858	0.056000	0.19401	0.068000	0.16541	-2.552000	0.00927	-0.143000	0.11334	-1.425000	0.01104	ATC		0.652	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			G	1306961	A	G	1306961	3	3	43	1	0	0	0	0	1	0	0	0	16422	217	8	4	428	4	TPSD1	16	1306961	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	7	1306961	89047792	772	3949	100	2									
IFT140	9742	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr16	1574679	1574679	+	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	gccgccaggtttcctgtctcGttggctatttgcgcagccta	4	13	11	13	3	1	0	0	0	1	0	3	0	2	0	4	2	2	4	4	2	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1574679G>A	ENST00000426508.2	-	24	3378	c.3015C>T	c.(3013-3015)aaC>aaT	p.N1005N	IFT140_ENST00000361339.5_Silent_p.N199N	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1005					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)				TTCCTGTCTCGTTGGCTATTT	0.647																																						.											0													53	55	54					16																	1574679		2199	4300	6499	SO:0001819	synonymous_variant	9742			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.3015C>T	16.37:g.1574679G>A			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.647	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1574679	G	A	1574679	2	1	43	1	0	0	0	0	0	0	0	1	7556	1136	40	1		1	IFT140	16	1574679	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	267718	1574679	88780074	773	3950											
IFT140	9742	broad.mit.edu	37	chr16	1612076	1612076	+	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	ctctcatgaagcaggaagccGtgctcttcggaaatgaagaa	13	8	11	9	2	2	3	1	2	2	1	4	5	2	5	1	2	3	2	1	2	5	1	rs375957506		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1612076G>A	ENST00000426508.2	-	18	2472	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	703					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)				GCAGGAAGCCGTGCTCTTCGG	0.463																																						.											0								G		1,4397	2.1+/-5.4	0,1,2198	70	71	71		2109	-9.5	0.4	16		71	0,8600		0,0,4300	no	coding-synonymous	IFT140	NM_014714.3		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		703/1463	1612076	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	9742			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.2109C>T	16.37:g.1612076G>A			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.463	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1612076	G	A	1612076	2	1	43	1	0	0	0	0	0	0	0	1	7556	1136	40	1		1	IFT140	16	1612076	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	37397	1612076	88742677	774	3951											
SEPX1	6123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	1991404	1991404	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacttggcacacacgtaaaCgcctgtggtggaaggagagg	12	6	14	9	2	0	1	0	0	0	1	0	3	0	2	1	5	1	2	1	5	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1991404C>T	ENST00000268661.7	-	0	2182				MSRB1_ENST00000564908.1_Missense_Mutation_p.V20I|MSRB1_ENST00000399753.2_Missense_Mutation_p.V20I|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000361871.3_Missense_Mutation_p.V20I	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACACGTAAACGCCTGTGGTG	0.592																																						.											0													30	33	32					16																	1991404		2092	4221	6313	SO:0001628	intergenic_variant	51734			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1991404C>T				Missense_Mutation	SNP	ENST00000268661.7	37	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247097	0.22796	.	.	ENSG00000198736	ENST00000361871;ENST00000399753	T;T	0.75154	-0.91;-0.91	4.74	-6.66	0.01789	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.829113	0.11048	N	0.605335	T	0.43166	0.1235	N	0.03891	-0.335	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.50171	-0.8859	10	0.02654	T	1	1.6117	15.1597	0.72775	0.0:0.2787:0.0:0.7213	.	20	Q9NZV6	MSRB1_HUMAN	I	20	ENSP00000355084:V20I;ENSP00000382657:V20I	ENSP00000355084:V20I	V	-	1	0	SEPX1	1931405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.249000	0.08842	-1.211000	0.02624	-1.769000	0.00663	GTT		0.592	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		T	1991404	C	T	1991404	1	4	43	0	1	0	0	0	0	0	0	0	14073	536	19	1		1	SEPX1	16	1991404	IGR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	379328	1991404	88363349	775	3952											
TBL3	10607	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	2026870	2026870	+	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	actgcactgtgaagctgtggCctcttcccaaagccttgctg	7	11	10	13	0	1	1	0	1	1	0	2	1	2	1	3	1	4	3	3	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2026870C>T	ENST00000568546.1	+	14	1476	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	450					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						GAAGCTGTGGCCTCTTCCCAA	0.602																																					Melanoma(118;616 1651 35077 38081 48633)	.											0													103	83	90					16																	2026870		2198	4300	6498	SO:0001583	missense	10607			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.1348C>T	16.37:g.2026870C>T	ENSP00000454836:p.Pro450Ser		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829811	0.16749	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.27	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.683346	0.15040	N	0.283918	T	0.14960	0.0361	N	0.01668	-0.77	0.35595	D	0.807376	B;P	0.36990	0.097;0.577	B;B	0.31442	0.048;0.13	T	0.14952	-1.0454	9	0.28530	T	0.3	-25.4819	8.6372	0.33955	0.2797:0.5848:0.1355:0.0	.	212;450	A0JLS5;Q12788	.;TBL3_HUMAN	S	450	.	ENSP00000331815:P450S	P	+	1	0	TBL3	1966871	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	1.635000	0.37134	1.186000	0.42985	0.561000	0.74099	CCT		0.602	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		T	2026870	C	T	2026870	3	4	43	1	0	0	0	0	1	0	0	0	15640	739	26	3	1402	3	TBL3	16	2026870	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	35466	2026870	88327883	776	3953											
NTHL1	4913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	2093638	2093638	+	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	ttgggcccaacacccggcagCgccaccagctcggccacaga	9	3	11	18	3	0	1	0	0	0	1	1	1	0	1	5	3	3	2	5	3	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2093638C>T	ENST00000219066.1	-	4	657	c.639G>A	c.(637-639)gcG>gcA	p.A213A	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1			nth endonuclease III-like 1 (E. coli)											lung(1)	1						CACCCGGCAGCGCCACCAGCT	0.627								Base excision repair (BER), DNA glycosylases																														.											0																																										SO:0001819	synonymous_variant	4913			U81285	CCDS10457.1	16p13.3	2008-02-05	2001-11-28		ENSG00000065057	ENSG00000065057			8028	protein-coding gene	gene with protein product		602656	"nth (E.coli endonuclease III)-like 1"			9045706, 8990169	Standard	NM_002528		Approved	NTH1, OCTS3	uc002col.1	P78549	OTTHUMG00000128744	ENST00000219066.1:c.639G>A	16.37:g.2093638C>T				Silent	SNP	ENST00000219066.1	37	CCDS10457.1																																																																																				0.627	NTHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250656.1	NM_002528		T	2093638	C	T	2093638	2	4	43	1	0	0	0	0	0	0	0	1	10698	755	27	1		1	NTHL1	16	2093638	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	66768	2093638	88261115	777	3954											
TRAF7	84231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	2226329	2226329	+	Missense_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	gtcaccagggcagtgtcaccGcgctggctgtgtcccggggc	4	7	16	14	3	2	0	2	0	0	0	3	0	3	0	3	4	0	3	3	4	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2226329G>A	ENST00000326181.6	+	20	2074	c.1942G>A	c.(1942-1944)Gcg>Acg	p.A648T		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					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						CAGTGTCACCGCGCTGGCTGT	0.642																																						.											0													24	23	23					16																	2226329		2189	4297	6486	SO:0001583	missense	84231			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.1942G>A	16.37:g.2226329G>A	ENSP00000318944:p.Ala648Thr		Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650320	0.67472	.	.	ENSG00000131653	ENST00000326181	T	0.61510	0.1	4.99	4.99	0.66335	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	0.44117	0.1278	N	0.25380	0.74	0.80722	D	1	P	0.34724	0.465	B	0.28385	0.089	T	0.41270	-0.9518	10	0.35671	T	0.21	-34.4038	17.4344	0.87547	0.0:0.0:1.0:0.0	.	648	Q6Q0C0	TRAF7_HUMAN	T	648	ENSP00000318944:A648T	ENSP00000318944:A648T	A	+	1	0	TRAF7	2166330	1.000000	0.71417	0.209000	0.23619	0.664000	0.39144	8.732000	0.91534	2.599000	0.87857	0.563000	0.77884	GCG		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		A	2226329	G	A	2226329	3	1	43	1	0	0	0	0	1	0	0	0	16443	1087	38	1	2016	1	TRAF7	16	2226329	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	132691	2226329	88128424	778	3955											
E4F1	1877	mdanderson.org	37	chr16	2282184	2282184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctaggtggtgggcacaTcaaagaggtcatcgtggctg	8	10	14	9	1	3	1	2	0	1	1	5	1	3	1	1	5	0	2	1	5	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2282184T>C	ENST00000301727.4	+	4	476	c.428T>C	c.(427-429)aTc>aCc	p.I143T	E4F1_ENST00000564139.1_Missense_Mutation_p.I143T|E4F1_ENST00000565090.1_Missense_Mutation_p.I143T	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	143					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						GGTGGGCACATCAAAGAGGTC	0.692																																						.											0													62	74	70					16																	2282184		2196	4290	6486	SO:0001583	missense	1877			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.428T>C	16.37:g.2282184T>C	ENSP00000301727:p.Ile143Thr		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417085	0.25552	.	.	ENSG00000167967	ENST00000301727	T	0.06768	3.26	5.33	5.33	0.75918	.	0.250879	0.44097	D	0.000499	T	0.20901	0.0503	L	0.53249	1.67	0.36522	D	0.870225	D;D;D	0.63880	0.988;0.988;0.993	P;P;D	0.72338	0.728;0.788;0.977	T	0.15206	-1.0445	10	0.18710	T	0.47	-31.1599	12.6759	0.56893	0.0:0.0:0.0:1.0	.	139;143;143	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	T	143	ENSP00000301727:I143T	ENSP00000301727:I143T	I	+	2	0	E4F1	2222185	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.816000	0.27267	2.026000	0.59711	0.459000	0.35465	ATC		0.692	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		C	2282184	T	C	2282184	3	2	43	1	0	0	0	0	1	0	0	0	4874	1435	50	4	442	4	E4F1	16	2282184	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	55855	2282184	88072569	779	3956											
CEMP1	752014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	2580968	2580968	+	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	ctgggagaggagctgtcttgCcagggctcccaggcagggag	7	6	18	10	0	1	1	0	0	1	1	2	4	2	3	2	5	2	3	2	5	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2580968C>T	ENST00000567119.1	-	1	441	c.107G>A	c.(106-108)gGc>gAc	p.G36D	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000382350.1_Missense_Mutation_p.G36D|AMDHD2_ENST00000302956.4_3'UTR|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000565480.1_Missense_Mutation_p.G36D	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	36						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						AGCTGTCTTGCCAGGGCTCCC	0.632																																						.											0													33	39	37					16																	2580968		2033	4178	6211	SO:0001583	missense	752014			AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"cementum protein-23"	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.107G>A	16.37:g.2580968C>T	ENSP00000457380:p.Gly36Asp		B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	2.931	-0.220975	0.06061	.	.	ENSG00000205923	ENST00000382350	T	0.59083	0.29	1.38	-2.75	0.05914	.	.	.	.	.	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10019	-1.0648	9	0.87932	D	0	.	3.7716	0.08643	0.0:0.2959:0.4032:0.3009	.	36	Q6PRD7	CEMP1_HUMAN	D	36	ENSP00000371787:G36D	ENSP00000371787:G36D	G	-	2	0	CEMP1	2520969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.036000	0.13819	-1.512000	0.01791	0.561000	0.74099	GGC		0.632	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		T	2580968	C	T	2580968	3	4	43	1	0	0	0	0	1	0	0	0	3224	739	26	3	640	3	CEMP1	16	2580968	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	298784	2580968	87773785	780	3957											
ZNF263	10127	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr16	3334016	3334016	+	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	agccggctccaagagctttgCcatgggtggcttcggcctga	6	9	14	12	2	0	2	0	1	0	1	2	2	1	2	4	4	3	3	4	4	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:3334016C>T	ENST00000219069.5	+	1	1074	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ZNF263_ENST00000573578.1_Silent_p.C66C|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Silent_p.C66C	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	66	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)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAGAGCTTTGCCATGGGTGGC	0.632																																						.											0													54	59	57					16																	3334016		2197	4300	6497	SO:0001819	synonymous_variant	10127			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.198C>T	16.37:g.3334016C>T			B2R634|O43387|Q96H95	Silent	SNP	ENST00000219069.5	37	CCDS10499.1																																																																																				0.632	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			T	3334016	C	T	3334016	2	4	43	1	0	0	0	0	0	0	0	1	17800	747	26	3		3	ZNF263	16	3334016	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	753048	3334016	87020737	781	3958											
PPL	5493	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	4934370	4934370	+	Missense_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	cagcttcttcctgctccagcGctgccagccgctgctgcaac	5	9	9	18	2	1	0	0	0	1	0	3	0	3	0	4	0	8	6	4	0	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:4934370G>A	ENST00000345988.2	-	22	4375	c.4286C>T	c.(4285-4287)gCg>gTg	p.A1429V	PPL_ENST00000590782.2_Missense_Mutation_p.A1427V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1429					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						CTGCTCCAGCGCTGCCAGCCG	0.687																																						.											0													53	55	55					16																	4934370		2161	4247	6408	SO:0001583	missense	5493			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.4286C>T	16.37:g.4934370G>A	ENSP00000340510:p.Ala1429Val		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	5.476	0.272799	0.10349	.	.	ENSG00000118898	ENST00000345988	T	0.36340	1.26	5.44	-2.13	0.07144	.	0.684498	0.14258	N	0.330964	T	0.22166	0.0534	L	0.29908	0.895	0.09310	N	0.999996	B	0.09022	0.002	B	0.04013	0.001	T	0.12941	-1.0528	10	0.56958	D	0.05	.	7.0929	0.25293	0.3621:0.0:0.1348:0.5031	.	1429	O60437	PEPL_HUMAN	V	1429	ENSP00000340510:A1429V	ENSP00000340510:A1429V	A	-	2	0	PPL	4874371	0.097000	0.21791	0.000000	0.03702	0.075000	0.17131	0.914000	0.28624	-0.697000	0.05092	-0.948000	0.02665	GCG		0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4934370	G	A	4934370	3	1	43	1	0	0	0	0	1	0	0	0	12334	1087	38	1	988	1	PPL	16	4934370	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1600354	4934370	85420383	782	3959											
PPL	5493	broad.mit.edu;mdanderson.org	37	chr16	4940317	4940317	+	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	tgctcgtaggctgccttggcGctctgtaggctctgcgccct	2	12	13	14	3	2	0	0	0	2	0	3	0	2	0	2	3	3	6	2	3	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:4940317G>A	ENST00000345988.2	-	18	2270	c.2181C>T	c.(2179-2181)agC>agT	p.S727S	PPL_ENST00000590782.2_Silent_p.S725S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	727					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						CTGCCTTGGCGCTCTGTAGGC	0.567																																						.											0													92	75	81					16																	4940317		2197	4300	6497	SO:0001819	synonymous_variant	5493			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.2181C>T	16.37:g.4940317G>A			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.567	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4940317	G	A	4940317	2	1	43	1	0	0	0	0	0	0	0	1	12334	1078	38	1		1	PPL	16	4940317	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5947	4940317	85414436	783	3960											
ALG1	56052	mdanderson.org	37	chr16	5129069	5129069	+	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	aattctcttctcatagaggaCgaagacttctccatcctgct	10	13	6	12	1	3	2	1	0	3	2	7	4	4	3	2	1	1	1	2	1	3	4	rs144029725	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:5129069C>T	ENST00000262374.5	+	8	898	c.867C>T	c.(865-867)gaC>gaT	p.D289D	ALG1_ENST00000544428.1_Silent_p.D178D|ALG1_ENST00000588623.1_Silent_p.D178D	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	289					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCATAGAGGACGAAGACTTCT	0.567													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		18008	0		0	False		,,,				2504	0					.											0								C		21,2761		0,21,1370	13	14	13		867	0.7	1	16	dbSNP_134	13	0,4778		0,0,2389	no	coding-synonymous	ALG1	NM_019109.4		0,21,3759	TT,TC,CC		0.0,0.7549,0.2778		289/465	5129069	21,7539	1391	2389	3780	SO:0001819	synonymous_variant	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.867C>T	16.37:g.5129069C>T			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	CCDS10528.1																																																																																				0.567	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		T	5129069	C	T	5129069	2	4	43	1	0	0	0	0	0	0	0	1	510	535	19	1		1	ALG1	16	5129069	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	188752	5129069	85225684	784	3961											
C16orf68	79091	broad.mit.edu	37	chr16	8729031	8729031	+	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	cctcttccctccaggtgtggCggggcgccctgctcctggca	2	9	13	17	2	1	0	0	0	1	0	4	0	4	0	5	5	1	2	5	5	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:8729031C>T	ENST00000381920.3	+	5	820	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.R132W	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	188						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CCAGGTGTGGCGGGGCGCCCT	0.647																																						.											0													74	77	76					16																	8729031		2107	4230	6337	SO:0001583	missense	79091			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"chromosome 16 open reading frame 68"	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.562C>T	16.37:g.8729031C>T	ENSP00000371345:p.Arg188Trp		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	CCDS10533.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.90|19.90	3.912727|3.912727	0.72983|0.72983	.|.	.|.	ENSG00000067365|ENSG00000067365	ENST00000163678|ENST00000381920	T|T	0.50813|0.06768	0.73|3.26	4.69|4.69	3.67|3.67	0.42095|0.42095	.|.	.|0.229248	.|0.35970	.|N	.|0.002876	T|T	0.30854|0.30854	0.0778|0.0778	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.14896|0.14896	-1.0456|-1.0456	7|10	0.66056|0.72032	D|D	0.02|0.01	-20.7383|-20.7383	13.4424|13.4424	0.61121|0.61121	0.1564:0.8436:0.0:0.0|0.1564:0.8436:0.0:0.0	.|.	.|188	.|Q9BUU2	.|MET22_HUMAN	V|W	174|188	ENSP00000163678:A174V|ENSP00000371345:R188W	ENSP00000163678:A174V|ENSP00000371345:R188W	A|R	+|+	2|1	0|2	METTL22|METTL22	8636532|8636532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	3.311000|3.311000	0.51919|0.51919	2.324000|2.324000	0.78689|0.78689	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.647	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		T	8729031	C	T	8729031	3	4	43	1	0	0	0	0	1	0	0	0	1827	759	27	1	576	1	C16orf68	16	8729031	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3599962	8729031	81625722	785	3962											
KIAA0430	9665	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr16	15711251	15711251	+	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	caattcgtggaggagccgtcGtgtgactgggaagaccccaa	10	7	14	10	3	0	2	0	1	0	1	2	5	0	5	3	3	1	0	3	3	3	1	rs533235779	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:15711251G>A	ENST00000396368.3	-	14	3068	c.2862C>T	c.(2860-2862)caC>caT	p.H954H	KIAA0430_ENST00000548025.1_Silent_p.H951H|KIAA0430_ENST00000602337.1_Silent_p.H951H|KIAA0430_ENST00000344181.3_Silent_p.H596H|KIAA0430_ENST00000551742.1_Silent_p.H954H|KIAA0430_ENST00000540441.2_Silent_p.H789H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	954					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						AGGAGCCGTCGTGTGACTGGG	0.537													G|||	2	0.000399361	0	0.0029	5008	,	,		15822	0		0	False		,,,				2504	0					.											0													55	57	56					16																	15711251		1877	4102	5979	SO:0001819	synonymous_variant	9665			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.2862C>T	16.37:g.15711251G>A			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	CCDS10562.2																																																																																				0.537	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15711251	G	A	15711251	2	1	43	1	0	0	0	0	0	0	0	1	8177	1136	40	1		1	KIAA0430	16	15711251	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6982220	15711251	74643502	786	3963											
MYH11	4629	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr16	15818057	15818057	+	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	ttcttttccaggttggacacGagttgccgctggttgtccaa	6	14	11	10	2	1	0	0	0	1	0	3	2	3	1	3	3	1	4	3	3	1	6	rs369335485		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:15818057G>A	ENST00000300036.5	-	31	4435	c.4326C>T	c.(4324-4326)ctC>ctT	p.L1442L	NDE1_ENST00000342673.5_Silent_p.T319T|NDE1_ENST00000396354.1_Silent_p.T319T|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396355.1_Silent_p.T319T|MYH11_ENST00000396324.3_Silent_p.L1449L|MYH11_ENST00000576790.2_Silent_p.L1442L|MYH11_ENST00000452625.2_Silent_p.L1449L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1442					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						GGTTGGACACGAGTTGCCGCT	0.547			T	CBFB	AML																																	.		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													87	83	85					16																	15818057		2197	4300	6497	SO:0001819	synonymous_variant	4629			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.4326C>T	16.37:g.15818057G>A			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.547	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15818057	G	A	15818057	2	1	43	1	0	0	0	0	0	0	0	1	10031	1045	37	1		1	MYH11	16	15818057	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	106806	15818057	74536696	787	3964											
ITPRIPL2	162073	hgsc.bcm.edu;ucsc.edu	37	chr16	19126839	19126839	+	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	ctgtggggtgtgaacacagcAcgccaggagcagaagctgct	10	6	15	10	1	0	2	0	1	0	1	0	3	0	3	1	3	5	4	1	3	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:19126839A>C	ENST00000381440.3	+	1	1586	c.1056A>C	c.(1054-1056)gcA>gcC	p.A352A	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	352						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						TGAACACAGCACGCCAGGAGC	0.652																																						.											0													35	40	39					16																	19126839		2196	4300	6496	SO:0001819	synonymous_variant	162073				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.1056A>C	16.37:g.19126839A>C				Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																				0.652	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		C	19126839	A	C	19126839	2	2	43	1	0	0	0	0	0	0	0	1	7925	146	6	5		5	ITPRIPL2	16	19126839	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3308782	19126839	71227914	788	3965											
SYT17	51760	broad.mit.edu;mdanderson.org	37	chr16	19236099	19236099	+	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	acaattgatcctttctacaaTgaatccttcagcttcaaagt	13	14	4	10	0	3	2	2	2	1	0	5	2	5	2	2	0	2	1	2	0	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:19236099T>C	ENST00000355377.2	+	7	1565	c.1167T>C	c.(1165-1167)aaT>aaC	p.N389N	SYT17_ENST00000568433.1_Silent_p.N83N|SYT17_ENST00000562034.1_Silent_p.N328N|SYT17_ENST00000568115.1_Silent_p.N328N|SYT17_ENST00000562711.2_Silent_p.N385N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	389	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTTTCTACAATGAATCCTTCA	0.448																																						.											0													126	124	125					16																	19236099		2197	4300	6497	SO:0001819	synonymous_variant	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1167T>C	16.37:g.19236099T>C			O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	CCDS10575.1																																																																																				0.448	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		C	19236099	T	C	19236099	2	2	43	1	0	0	0	0	0	0	0	1	15470	1461	51	4		4	SYT17	16	19236099	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	109260	19236099	71118654	789	3966											
UMOD	7369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	20360337	20360337	+	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	gggcgacaggcggaagccttCggggcagacgcaggagaagg	10	2	20	9	4	0	2	0	0	0	2	1	5	0	3	1	7	1	2	1	7	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20360337C>T	ENST00000570689.1	-	3	432	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	UMOD_ENST00000302509.4_Missense_Mutation_p.E96K|UMOD_ENST00000396138.4_Missense_Mutation_p.E145K|UMOD_ENST00000424589.1_Missense_Mutation_p.E129K|UMOD_ENST00000396134.2_Missense_Mutation_p.E129K|UMOD_ENST00000396142.2_Missense_Mutation_p.E96K			P07911	UROM_HUMAN	uromodulin	96	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		VCPEG -> AASC (in MCKD2). {ECO:0000269|PubMed:14531790}.		cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CGGAAGCCTTCGGGGCAGACG	0.637																																						.											0													32	21	25					16																	20360337		2202	4299	6501	SO:0001583	missense	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.286G>A	16.37:g.20360337C>T	ENSP00000460548:p.Glu96Lys		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	c	8.398	0.841251	0.16891	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.45	1.09	0.20402	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.984329	0.08288	N	0.968839	T	0.80717	0.4676	N	0.25201	0.72	0.09310	N	1	P;P	0.40250	0.709;0.567	B;B	0.28784	0.094;0.065	T	0.68010	-0.5522	10	0.12766	T	0.61	-6.0448	7.0601	0.25121	0.0:0.4396:0.403:0.1574	.	129;96	E9PEA4;P07911	.;UROM_HUMAN	K	96;129;129;96;96;96	ENSP00000379438:E129K;ENSP00000416346:E129K;ENSP00000306279:E96K;ENSP00000379446:E96K	ENSP00000306279:E96K	E	-	1	0	UMOD	20267838	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.211000	0.17474	0.227000	0.20999	-0.313000	0.08912	GAA		0.637	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			T	20360337	C	T	20360337	3	4	43	1	0	0	0	0	1	0	0	0	16976	893	31	1	1672	1	UMOD	16	20360337	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1124238	20360337	69994416	790	3967											
DCUN1D3	123879	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	20873571	20873571	+	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	cttcccgctcatccttgtagCgcctgaacagttcttccaat	7	13	6	15	2	2	1	1	1	1	0	5	1	5	1	4	0	2	3	4	0	3	5	rs368022474		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20873571C>T	ENST00000324344.4	-	2	575	c.290G>A	c.(289-291)cGc>cAc	p.R97H	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.R97H	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	97	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ATCCTTGTAGCGCCTGAACAG	0.542																																						.											0								C	HIS/ARG	0,4402		0,0,2201	162	144	150		290	5.9	1	16		150	2,8598	2.2+/-6.3	0,2,4298	no	missense	DCUN1D3	NM_173475.2	29	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	benign	97/305	20873571	2,13000	2201	4300	6501	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.290G>A	16.37:g.20873571C>T	ENSP00000319482:p.Arg97His		B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744633	0.69418	0.0	2.33E-4	ENSG00000188215	ENST00000324344	D	0.94092	-3.35	5.92	5.92	0.95590	Domain of unknown function DUF298 (1);	0.090703	0.85682	D	0.000000	D	0.91026	0.7177	L	0.41356	1.27	0.51012	D	0.999909	B	0.21309	0.054	B	0.12837	0.008	D	0.86060	0.1531	10	0.51188	T	0.08	-6.6182	20.3214	0.98679	0.0:1.0:0.0:0.0	.	97	Q8IWE4	DCNL3_HUMAN	H	97	ENSP00000319482:R97H	ENSP00000319482:R97H	R	-	2	0	DCUN1D3	20781072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.804000	0.96469	0.655000	0.94253	CGC		0.542	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		T	20873571	C	T	20873571	3	4	43	1	0	0	0	0	1	0	0	0	4315	768	27	1	632	1	DCUN1D3	16	20873571	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	513234	20873571	69481182	791	3968											
DNAH3	55567	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	20996802	20996802	+	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	ctttgtcctgcttcaggacaCggcagatcctagagatgtgc	8	11	11	11	1	1	2	1	0	0	2	3	4	3	3	2	2	2	2	2	2	1	3	rs200916697		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20996802C>T	ENST00000261383.3	-	48	7261	c.7262G>A	c.(7261-7263)cGt>cAt	p.R2421H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2421	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)|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)		CTTCAGGACACGGCAGATCCT	0.552													C|||	1	0.000199681	0	0	5008	,	,		19647	0.001		0	False		,,,				2504	0					.											0													81	70	74					16																	20996802		2201	4300	6501	SO:0001583	missense	55567			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.7262G>A	16.37:g.20996802C>T	ENSP00000261383:p.Arg2421His		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.4	4.999055	0.93227	.	.	ENSG00000158486	ENST00000261383	T	0.57273	0.41	5.43	5.43	0.79202	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000001	D	0.85699	0.5757	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92110	0.5695	10	0.87932	D	0	.	19.2603	0.93966	0.0:1.0:0.0:0.0	.	2421	Q8TD57	DYH3_HUMAN	H	2421	ENSP00000261383:R2421H	ENSP00000261383:R2421H	R	-	2	0	DNAH3	20904303	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.783000	0.85696	2.554000	0.86153	0.655000	0.94253	CGT		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20996802	C	T	20996802	3	4	43	1	0	0	0	0	1	0	0	0	4603	536	19	1	5147	1	DNAH3	16	20996802	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	123231	20996802	69357951	792	3969											
OTOA	146183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	21734300	21734300	+	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	ttcctcttggctgcactcccGtaagtgaacatcagccccca	8	10	7	16	1	2	1	1	1	1	0	4	1	4	1	4	1	3	3	4	1	2	3	rs148690740		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:21734300G>A	ENST00000286149.4	+	17	1923		c.e17+1		OTOA_ENST00000388957.3_Splice_Site|OTOA_ENST00000388956.4_Splice_Site|OTOA_ENST00000388958.3_Splice_Site			Q7RTW8	OTOAN_HUMAN	otoancorin						cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGCACTCCCGTAAGTGAACA	0.478																																						.											0								G	,,	1,4395	2.1+/-5.4	0,1,2197	96	81	86		,,	4.8	1	16	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5,splice-5	OTOA	NM_001161683.1,NM_144672.3,NM_170664.2	,,	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	,,	,,	21734300	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1922+1G>A	16.37:g.21734300G>A			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Splice_Site	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.037065	0.75617	2.27E-4	1.16E-4	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6549	0.77126	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOA	21641801	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.715000	0.68430	2.353000	0.79882	0.655000	0.94253	.		0.478	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		Intron	A	21734300	G	A	21734300	5	1	43	1	0	0	0	0	0	0	1	0	11302	1159	40	1	1993	1	OTOA	16	21734300	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	737498	21734300	68620453	793	3970											
UQCRC2	7385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	21968871	21968871	+	Missense_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	aggaaccacccatttgctgcGtcttacatccagtctggtga	9	11	9	12	1	2	1	0	1	2	0	3	2	3	2	3	2	4	1	3	2	2	2	rs371099781		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:21968871G>A	ENST00000268379.4	+	3	1015	c.251G>A	c.(250-252)cGt>cAt	p.R84H	UQCRC2_ENST00000561553.1_Missense_Mutation_p.R84H	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	84					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CATTTGCTGCGTCTTACATCC	0.388																																					Colon(123;450 1645 12841 25393 45623)	.											0								G	HIS/ARG	0,4396		0,0,2198	175	151	159		251	5.2	1	16		159	1,8599	1.2+/-3.3	0,1,4299	no	missense	UQCRC2	NM_003366.2	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	84/454	21968871	1,12995	2198	4300	6498	SO:0001583	missense	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.251G>A	16.37:g.21968871G>A	ENSP00000268379:p.Arg84His		B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633627	0.67015	0.0	1.16E-4	ENSG00000140740	ENST00000268379	T	0.17691	2.26	5.19	5.19	0.71726	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.31447	-0.9943	10	0.87932	D	0	-9.502	17.6661	0.88203	0.0:0.0:1.0:0.0	.	84	P22695	QCR2_HUMAN	H	84	ENSP00000268379:R84H	ENSP00000268379:R84H	R	+	2	0	UQCRC2	21876372	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	9.322000	0.96357	2.569000	0.86673	0.655000	0.94253	CGT		0.388	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		A	21968871	G	A	21968871	3	1	43	1	0	0	0	0	1	0	0	0	17017	1145	40	1	261	1	UQCRC2	16	21968871	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	234571	21968871	68385882	794	3971											
ERN2	5347	mdanderson.org	37	chr16	23702743	23702743	+	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	cttctccagccagtcactgaCgtcctggggcccagagagct	7	8	11	15	1	2	2	1	1	1	1	4	3	3	2	4	2	2	1	4	2	0	1	rs144279415	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23702743C>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.V742I|ERN2_ENST00000256797.4_Missense_Mutation_p.V842I	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)		CAGTCACTGACGTCCTGGGGC	0.622													C|||	2	0.000399361	0.0015	0	5008	,	,		17344	0		0	False		,,,				2504	0				Colon(12;240 564 27038 33155)	.											0								C	ILE/VAL	2,4392	4.2+/-10.8	0,2,2195	19	21	20		2524	4.7	0.9	16	dbSNP_134	20	0,8600		0,0,4300	yes	missense	ERN2	NM_033266.3	29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	842/975	23702743	2,12992	2197	4300	6497	SO:0001628	intergenic_variant	10595				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.23702743C>T			Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.31	3.595516	0.66219	4.55E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.35973	1.28;1.28	5.68	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.85373	2.75	0.58432	D	0.999997	B;D	0.89917	0.161;1.0	B;D	0.77557	0.018;0.99	T	0.67189	-0.5733	10	0.54805	T	0.06	.	12.4641	0.55749	0.0:0.9188:0.0:0.0812	.	742;794	E7ETG2;A5YM65	.;.	I	842;742	ENSP00000256797:V842I;ENSP00000413812:V742I	ENSP00000256797:V842I	V	-	1	0	ERN2	23610244	1.000000	0.71417	0.888000	0.34837	0.437000	0.31866	4.598000	0.61069	1.410000	0.46936	0.563000	0.77884	GTC		0.622	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		T	23702743	C	T	23702743	1	4	43	0	1	0	0	0	0	0	0	0	5238	536	19	1		1	ERN2	16	23702743	IGR	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1733872	23702743	66652010	795	3972											
CHP2	63928	broad.mit.edu	37	chr16	23767738	23767738	+	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	agctctatgacctggatcgcGatgggaagatctccaggcat	10	9	12	10	2	2	2	0	1	2	1	4	5	2	4	2	3	1	2	2	3	2	1	rs79455352	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23767738G>A	ENST00000300113.2	+	5	805	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	128	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D128Y(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537																																						.											1	Substitution - Missense(1)	stomach(1)											86	69	75					16																	23767738		2197	4300	6497	SO:0001583	missense	63928				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.382G>A	16.37:g.23767738G>A	ENSP00000300113:p.Asp128Asn		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211780	0.58452	.	.	ENSG00000166869	ENST00000300113	T	0.79352	-1.26	3.82	3.82	0.43975	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	N	0.21324	0.655	0.58432	D	0.999999	D	0.58268	0.982	P	0.46237	0.508	T	0.69529	-0.5121	10	0.36615	T	0.2	-17.3968	14.0131	0.64509	0.0:0.0:1.0:0.0	.	128	O43745	CHP2_HUMAN	N	128	ENSP00000300113:D128N	ENSP00000300113:D128N	D	+	1	0	AC130454.2	23675239	1.000000	0.71417	0.942000	0.38095	0.291000	0.27294	8.034000	0.88864	2.414000	0.81942	0.591000	0.81541	GAT		0.537	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		A	23767738	G	A	23767738	3	1	43	1	0	0	0	0	1	0	0	0	3367	1058	37	1	400	1	CHP2	16	23767738	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	64995	23767738	66587015	796	3973											
PRKCB	5579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	23999859	23999859	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgcacaagcggtgccAtgaatttgtcacattctcct	8	13	10	10	1	2	1	1	1	1	0	3	1	2	1	2	2	3	1	2	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23999859A>G	ENST00000321728.7	+	3	411	c.236A>G	c.(235-237)cAt>cGt	p.H79R	PRKCB_ENST00000303531.7_Missense_Mutation_p.H79R	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	79					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAGCGGTGCCATGAATTTGTC	0.517																																						.											0													147	130	135					16																	23999859		2197	4300	6497	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.236A>G	16.37:g.23999859A>G	ENSP00000318315:p.His79Arg		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522160	0.85600	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.93366	-3.21;-3.21	5.58	5.58	0.84498	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.75615	2.305	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.79784	0.98;0.993	D	0.96355	0.9261	10	0.62326	D	0.03	.	13.6966	0.62582	1.0:0.0:0.0:0.0	.	79;79	P05771-2;P05771	.;KPCB_HUMAN	R	79	ENSP00000318315:H79R;ENSP00000305355:H79R	ENSP00000305355:H79R	H	+	2	0	PRKCB	23907360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.493000	0.90474	2.122000	0.65172	0.459000	0.35465	CAT		0.517	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		G	23999859	A	G	23999859	3	3	43	1	0	0	0	0	1	0	0	0	12508	217	8	4	246	4	PRKCB	16	23999859	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	232121	23999859	66354894	797	3974											
SULT1A2	6799	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr16	28603675	28603675	+	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	ttcttcttcatctccttgaaCgacgtgtgctcaaccatgag	8	14	7	12	2	5	2	2	2	3	0	6	3	5	2	2	0	3	1	2	0	2	4	rs141569114	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:28603675C>T	ENST00000395630.1	-	7	1034	c.684G>A	c.(682-684)tcG>tcA	p.S228S	SULT1A2_ENST00000533150.1_Silent_p.S195S|SULT1A2_ENST00000335715.4_Silent_p.S228S	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	228					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						TCTCCTTGAACGACGTGTGCT	0.552													.|||	3	0.000599042	0.0015	0	5008	,	,		19209	0		0	False		,,,				2504	0.001					.											0								C	,	1,4393	2.1+/-5.4	0,1,2196	215	187	197		684,684	-10	0.1	16	dbSNP_134	197	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SULT1A2	NM_001054.3,NM_177528.2	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	228/296,228/296	28603675	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	6799			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.684G>A	16.37:g.28603675C>T			A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	CCDS10636.1																																																																																				0.552	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		T	28603675	C	T	28603675	2	4	43	1	0	0	0	0	0	0	0	1	15372	523	19	1		1	SULT1A2	16	28603675	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4603816	28603675	61751078	798	3975											
ASPHD1	253982	broad.mit.edu	37	chr16	29917204	29917204	+	Missense_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	aggccctcgactttgtcttcGccccagacccttgaaggaag	8	9	10	14	2	1	2	0	1	1	1	3	4	1	3	4	2	0	0	4	2	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:29917204G>A	ENST00000308748.5	+	3	1411	c.1159G>A	c.(1159-1161)Gcc>Acc	p.A387T	ASPHD1_ENST00000483405.1_Missense_Mutation_p.A106T	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	387					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						CTTTGTCTTCGCCCCAGACCC	0.632																																						.											0													49	42	45					16																	29917204		2197	4300	6497	SO:0001583	missense	253982			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.1159G>A	16.37:g.29917204G>A	ENSP00000311447:p.Ala387Thr		A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441667	0.63067	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.47177	0.85;0.85	5.76	3.81	0.43845	.	0.245036	0.35291	N	0.003313	T	0.24812	0.0602	N	0.05351	-0.065	0.80722	D	1	P	0.36587	0.559	B	0.29524	0.103	T	0.09335	-1.0679	10	0.52906	T	0.07	-4.2254	11.6302	0.51168	0.1466:0.0:0.8534:0.0	.	387	Q5U4P2	ASPH1_HUMAN	T	387	ENSP00000388036:A387T;ENSP00000311447:A387T	ENSP00000311447:A387T	A	+	1	0	ASPHD1	29824705	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.176000	0.50863	0.794000	0.33899	-0.140000	0.14226	GCC		0.632	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		A	29917204	G	A	29917204	3	1	43	1	0	0	0	0	1	0	0	0	1054	1087	38	1	1169	1	ASPHD1	16	29917204	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1313529	29917204	60437549	799	3976											
TBX6	6911	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	30097724	30097724	+	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	cagccgagtagggggctgagCgcccggagtctggagcctcc	6	5	17	13	3	1	1	0	1	1	0	2	4	2	3	4	4	3	2	4	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30097724C>T	ENST00000395224.2	-	9	1192	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TBX6_ENST00000279386.2_Missense_Mutation_p.R378H	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	378					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGGGGCTGAGCGCCCGGAGTC	0.697																																						.											0													6	8	8					16																	30097724		2104	4124	6228	SO:0001583	missense	6911			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"T-boxes"	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.1133G>A	16.37:g.30097724C>T	ENSP00000378650:p.Arg378His		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133005	0.21041	.	.	ENSG00000149922	ENST00000395224;ENST00000279386	D;D	0.87256	-2.23;-2.23	5.25	2.23	0.28157	.	1.998930	0.02243	N	0.065938	T	0.78966	0.4367	N	0.19112	0.55	0.27721	N	0.945124	B	0.06786	0.001	B	0.04013	0.001	T	0.63825	-0.6549	10	0.46703	T	0.11	.	4.3271	0.11045	0.1582:0.5904:0.0:0.2514	.	378	O95947	TBX6_HUMAN	H	378	ENSP00000378650:R378H;ENSP00000279386:R378H	ENSP00000279386:R378H	R	-	2	0	TBX6	30005225	0.898000	0.30612	0.980000	0.43619	0.289000	0.27227	0.761000	0.26489	0.231000	0.21079	-0.300000	0.09419	CGC		0.697	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		T	30097724	C	T	30097724	3	4	43	1	0	0	0	0	1	0	0	0	15659	768	27	1	181	1	TBX6	16	30097724	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	180520	30097724	60257029	800	3977											
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr16	30748499	30748499	+	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	ggactggtggaggcacccacCggcgcagtaaaaaggccaaa	13	3	14	11	2	0	0	0	0	0	0	0	2	0	2	3	6	0	3	3	6	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30748499C>T	ENST00000262518.4	+	34	7523	c.7138C>T	c.(7138-7140)Cgg>Tgg	p.R2380W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2318W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2222W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2380					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)	p.R2380W(1)		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)			AGGCACCCACCGGCGCAGTAA	0.652																																						.											1	Substitution - Missense(1)	large_intestine(1)											39	43	42					16																	30748499		2197	4300	6497	SO:0001583	missense	10847			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.7138C>T	16.37:g.30748499C>T	ENSP00000262518:p.Arg2380Trp		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697016	0.48202	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93366	-3.13;-3.19;-3.21	4.8	4.8	0.61643	.	0.000000	0.42682	D	0.000670	D	0.92450	0.7603	N	0.08118	0	0.33581	D	0.599891	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	D	0.95121	0.8246	10	0.72032	D	0.01	-1.144	16.865	0.86027	0.0:1.0:0.0:0.0	.	2318;2380	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	2380;2318;2222	ENSP00000262518:R2380W;ENSP00000378499:R2318W;ENSP00000343042:R2222W	ENSP00000262518:R2380W	R	+	1	2	SRCAP	30656000	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.762000	0.47597	2.513000	0.84729	0.558000	0.71614	CGG		0.652	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30748499	C	T	30748499	3	4	43	1	0	0	0	0	1	0	0	0	15134	643	23	1	7264	1	SRCAP	16	30748499	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	650775	30748499	59606254	801	3978											
RNF40	9810	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr16	30777565	30777565	+	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	agctggagaaactgcaggccGaacttcagggggctgtgcgg	9	6	17	9	2	1	1	1	0	0	1	1	3	1	1	1	5	5	3	1	5	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30777565G>A	ENST00000324685.6	+	9	1510	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	359					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)			ACTGCAGGCCGAACTTCAGGG	0.587																																						.											0													72	81	78					16																	30777565		2197	4300	6497	SO:0001583	missense	9810			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.1075G>A	16.37:g.30777565G>A	ENSP00000325677:p.Glu359Lys		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798379	0.90538	.	.	ENSG00000103549	ENST00000324685;ENST00000452273	T	0.27720	1.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.58520	0.738;0.84	T	0.06716	-1.0811	10	0.09843	T	0.71	-4.4002	18.8306	0.92137	0.0:0.0:1.0:0.0	.	359;359	A8K6K1;O75150	.;BRE1B_HUMAN	K	359;208	ENSP00000325677:E359K	ENSP00000325677:E359K	E	+	1	0	RNF40	30685066	1.000000	0.71417	0.921000	0.36526	0.956000	0.61745	8.988000	0.93501	2.747000	0.94245	0.462000	0.41574	GAA		0.587	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		A	30777565	G	A	30777565	3	1	43	1	0	0	0	0	1	0	0	0	13493	1059	37	1	1105	1	RNF40	16	30777565	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	29066	30777565	59577188	802	3979											
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	31090347	31090347	+	Missense_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	tggctacaggcttcaccggcGccaggcccacagctcctctg	6	7	11	17	2	2	0	1	0	1	0	3	0	3	0	4	4	2	3	4	4	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:31090347G>A	ENST00000394979.2	+	1	3125	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R901H			O15015	ZN646_HUMAN	zinc finger protein 646	901					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						CTTCACCGGCGCCAGGCCCAC	0.652																																						.											0													25	28	27					16																	31090347		2197	4299	6496	SO:0001583	missense	9726			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.2702G>A	16.37:g.31090347G>A	ENSP00000378429:p.Arg901His		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	18.78	3.696206	0.68386	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.33865	1.39;1.39	5.25	4.28	0.50868	.	.	.	.	.	T	0.24890	0.0604	L	0.29908	0.895	0.38415	D	0.946034	B	0.24651	0.108	B	0.18871	0.023	T	0.11084	-1.0602	9	0.59425	D	0.04	-13.1981	7.6144	0.28150	0.2539:0.0:0.7461:0.0	.	901	O15015-2	.	H	901	ENSP00000300850:R901H;ENSP00000378429:R901H	ENSP00000300850:R901H	R	+	2	0	ZNF646	30997848	0.018000	0.18449	1.000000	0.80357	0.978000	0.69477	0.214000	0.17541	1.188000	0.43014	0.563000	0.77884	CGC		0.652	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31090347	G	A	31090347	3	1	43	1	0	0	0	0	1	0	0	0	18059	1087	38	1	2704	1	ZNF646	16	31090347	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	312782	31090347	59264406	803	3980											
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	49671194	49671194	+	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	ccattggagatggagttggcGcttgctgagagccgctgccg	6	9	16	10	3	0	2	0	1	0	2	0	5	0	3	3	3	3	4	3	3	0	3	rs151294188	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:49671194G>A	ENST00000561648.1	-	4	1922	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	ZNF423_ENST00000535559.1_Silent_p.S506S|ZNF423_ENST00000562871.1_Silent_p.S563S|ZNF423_ENST00000562520.1_Silent_p.S563S|ZNF423_ENST00000563137.2_Silent_p.S563S|ZNF423_ENST00000567169.1_Silent_p.S506S|ZNF423_ENST00000262383.2_Silent_p.S623S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	623					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)				TGGAGTTGGCGCTTGCTGAGA	0.577																																						.											0								G		1,4395	2.1+/-5.4	0,1,2197	81	72	75		1869	-8.6	0	16	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		623/1285	49671194	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	23090			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.1869C>T	16.37:g.49671194G>A			O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49671194	G	A	49671194	2	1	43	1	0	0	0	0	0	0	0	1	17895	1078	38	1		1	ZNF423	16	49671194	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	18580847	49671194	40683559	804	3981											
SALL1	6299	broad.mit.edu	37	chr16	51173805	51173805	+	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	tgctgcaggaccacagcgttCgtgaacttcttctggcagat	8	11	11	11	2	2	2	0	1	2	1	3	3	2	3	1	2	4	4	1	2	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:51173805C>T	ENST00000251020.4	-	2	2361	c.2328G>A	c.(2326-2328)acG>acA	p.T776T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.T679T	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T776T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACAGCGTTCGTGAACTTCT	0.557																																					GBM(103;1352 1446 1855 4775 8890)	.											1	Substitution - coding silent(1)	large_intestine(1)											90	93	92					16																	51173805		2198	4300	6498	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2328G>A	16.37:g.51173805C>T			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51173805	C	T	51173805	2	4	43	1	0	0	0	0	0	0	0	1	13810	871	31	1		1	SALL1	16	51173805	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1502611	51173805	39180948	805	3982											
IRX6	79190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	55360358	55360358	+	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	gctctctgctgcgcaccctaCgatagtcgactgctgggcag	6	9	12	14	3	1	0	0	0	1	0	3	2	1	0	1	1	4	5	1	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:55360358C>T	ENST00000290552.7	+	2	1488	c.156C>T	c.(154-156)taC>taT	p.Y52Y	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	52					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						GCGCACCCTACGATAGTCGAC	0.652																																						.											0													36	33	34					16																	55360358		2198	4300	6498	SO:0001819	synonymous_variant	79190			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.156C>T	16.37:g.55360358C>T			B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																				0.652	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		T	55360358	C	T	55360358	2	4	43	1	0	0	0	0	0	0	0	1	7848	547	19	1		1	IRX6	16	55360358	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4186553	55360358	34994395	806	3983											
SLC6A2	6530	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr16	55690630	55690630	+	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	cttctggcgcggatgaacccGcaggtgcagcccgagaacaa	10	5	13	13	4	1	2	0	1	1	1	1	4	1	3	2	3	4	2	2	3	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:55690630G>A	ENST00000379906.2	+	1	279	c.24G>A	c.(22-24)ccG>ccA	p.P8P	SLC6A2_ENST00000566163.1_Silent_p.P8P|SLC6A2_ENST00000561820.1_Silent_p.P8P|SLC6A2_ENST00000219833.8_Silent_p.P8P|SLC6A2_ENST00000568943.1_Silent_p.P8P|SLC6A2_ENST00000414754.3_Silent_p.P8P	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	8					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGATGAACCCGCAGGTGCAGC	0.652																																						.											0													28	32	31					16																	55690630		2196	4295	6491	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.24G>A	16.37:g.55690630G>A			B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.652	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			A	55690630	G	A	55690630	2	1	43	1	0	0	0	0	0	0	0	1	14683	1074	38	1		1	SLC6A2	16	55690630	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	330272	55690630	34664123	807	3984											
FAM192A	80011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	57188284	57188284	+	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	tgatggtgccttcgctgtctGagctggactcggagtcgctg	4	12	15	10	3	1	2	0	2	1	0	4	4	1	4	1	3	2	3	1	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:57188284G>A	ENST00000309137.8	-	7	941	c.683C>T	c.(682-684)tCa>tTa	p.S228L	FAM192A_ENST00000567439.1_Missense_Mutation_p.S228L|FAM192A_ENST00000566077.1_Missense_Mutation_p.S151L|FAM192A_ENST00000564108.1_Missense_Mutation_p.S228L|FAM192A_ENST00000389447.5_Missense_Mutation_p.S228L|FAM192A_ENST00000569266.1_Missense_Mutation_p.S228L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	228						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTCGCTGTCTGAGCTGGACTC	0.597																																						.											0													58	68	65					16																	57188284		2041	4200	6241	SO:0001583	missense	80011				CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"NEFA interacting nuclear protein NIP30"		"chromosome 16 open reading frame 94"	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.683C>T	16.37:g.57188284G>A	ENSP00000335808:p.Ser228Leu			Missense_Mutation	SNP	ENST00000309137.8	37	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782533	0.70222	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.25	5.25	0.73442	.	0.436913	0.24854	N	0.035075	T	0.59797	0.2220	L	0.42245	1.32	0.58432	D	0.999996	B	0.21821	0.061	B	0.24848	0.056	T	0.58736	-0.7584	9	0.72032	D	0.01	-0.3098	19.0487	0.93032	0.0:0.0:1.0:0.0	.	228	Q9GZU8	F192A_HUMAN	L	228	.	ENSP00000335808:S228L	S	-	2	0	FAM192A	55745785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.800000	0.62524	2.724000	0.93272	0.563000	0.77884	TCA		0.597	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		A	57188284	G	A	57188284	3	1	43	1	0	0	0	0	1	0	0	0	5523	1294	45	4	85	4	FAM192A	16	57188284	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1497654	57188284	33166469	808	3985											
SLC12A4	6560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	67980419	67980419	+	Missense_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	cagcaccacggagttatgccGcatgcctcccaggccacagg	9	5	11	16	2	0	0	0	0	0	0	1	1	1	1	5	3	3	3	5	3	1	1	rs370220716		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|LCAT_ENST00000264005.5_5'Flank|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652																																						.											0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56	57	57		2359,2365,2341,2266,2359	2.2	1	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2359C>T	16.37:g.67980419G>A	ENSP00000318557:p.Arg787Trp		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	SLC12A4	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		A	67980419	G	A	67980419	3	1	43	1	0	0	0	0	1	0	0	0	14385	1086	38	1	926	1	SLC12A4	16	67980419	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	10792135	67980419	22374334	809	3986											
PDPR	55066	broad.mit.edu	37	chr16	70164360	70164360	+	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	gaccggacatctgttcttcaTgtaatggtcaaaaaaggtca	13	11	9	8	1	5	0	3	0	2	0	5	2	5	1	1	3	0	2	1	3	4	3	rs201953730		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:70164360T>A	ENST00000288050.4	+	7	1599	c.642T>A	c.(640-642)caT>caA	p.H214Q	PDPR_ENST00000568530.1_Missense_Mutation_p.H214Q|PDPR_ENST00000398122.3_Missense_Mutation_p.H114Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	214					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGTTCTTCATGTAATGGTCA	0.448																																						.											0													147	148	147					16																	70164360		1917	4144	6061	SO:0001583	missense	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.642T>A	16.37:g.70164360T>A	ENSP00000288050:p.His214Gln		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	T	12.71	2.019723	0.35606	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	D;D	0.84660	-1.88;-1.88	4.93	-2.98	0.05513	FAD dependent oxidoreductase (1);	0.054244	0.64402	D	0.000001	T	0.62575	0.2439	N	0.16790	0.44	0.80722	D	1	B	0.14438	0.01	B	0.18263	0.021	T	0.41484	-0.9506	10	0.33940	T	0.23	.	10.9854	0.47518	0.0:0.4457:0.0:0.5543	.	214	Q8NCN5	PDPR_HUMAN	Q	214;114	ENSP00000288050:H214Q;ENSP00000381190:H114Q	ENSP00000288050:H214Q	H	+	3	2	PDPR	68721861	0.947000	0.32204	0.893000	0.35052	0.909000	0.53808	0.008000	0.13197	-0.680000	0.05211	-0.479000	0.04858	CAT		0.448	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		A	70164360	T	A	70164360	3	1	43	1	0	0	0	0	1	0	0	0	11689	1461	51	5	660	5	PDPR	16	70164360	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	2183941	70164360	20190393	810	3987											
TAT	6898	broad.mit.edu	37	chr16	71602619	71602619	+	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	gacacaggcacccaccgttgCtgggaggcagtggacagact	10	5	14	12	1	0	1	0	0	0	1	0	4	0	3	2	4	1	4	2	4	0	1	rs137946175	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:71602619C>T	ENST00000355962.4	-	11	1352	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	407					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CCCACCGTTGCTGGGAGGCAG	0.498																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	.											0								C	THR/ALA	3,4393	6.2+/-15.9	0,3,2195	62	52	55		1219	5	0.7	16	dbSNP_134	55	0,8600		0,0,4300	yes	missense	TAT	NM_000353.2	58	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	benign	407/455	71602619	3,12993	2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1219G>A	16.37:g.71602619C>T	ENSP00000348234:p.Ala407Thr		B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312294	0.95655	6.82E-4	0.0	ENSG00000198650	ENST00000355962	D	0.88354	-2.37	5.93	4.98	0.66077	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.194477	0.53938	D	0.000045	D	0.92410	0.7591	M	0.76574	2.34	0.80722	D	1	D	0.55605	0.972	P	0.54060	0.741	D	0.93310	0.6684	10	0.87932	D	0	-0.4645	16.6213	0.84931	0.131:0.869:0.0:0.0	.	407	P17735	ATTY_HUMAN	T	407	ENSP00000348234:A407T	ENSP00000348234:A407T	A	-	1	0	TAT	70160120	1.000000	0.71417	0.715000	0.30552	0.919000	0.55068	7.567000	0.82357	1.517000	0.48917	-0.169000	0.13324	GCA		0.498	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			T	71602619	C	T	71602619	3	4	43	1	0	0	0	0	1	0	0	0	15587	797	28	4	153	4	TAT	16	71602619	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1438259	71602619	18752134	811	3988											
ZFHX3	463	broad.mit.edu	37	chr16	72822644	72822644	+	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	gctggggttggggagctcagCgacgctgaggacggtttatt	6	10	18	7	3	1	1	1	1	0	0	1	4	1	3	0	6	2	5	0	6	1	4	rs138129897	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:72822644C>T	ENST00000268489.5	-	10	10203	c.9531G>A	c.(9529-9531)tcG>tcA	p.S3177S	ZFHX3_ENST00000397992.5_Silent_p.S2263S|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3177					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)				GGGAGCTCAGCGACGCTGAGG	0.607													C|||	3	0.000599042	0	0	5008	,	,		14507	0		0	False		,,,				2504	0.0031					.											0													73	78	76					16																	72822644		2198	4300	6498	SO:0001819	synonymous_variant	463			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.9531G>A	16.37:g.72822644C>T			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72822644	C	T	72822644	2	4	43	1	0	0	0	0	0	0	0	1	17631	755	27	1		1	ZFHX3	16	72822644	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1220025	72822644	17532109	812	3989											
MON1B	22879	broad.mit.edu	37	chr16	77228770	77228770	+	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	cctgatggttttttctacgcCtacgtggcccgcctggatgc	4	13	11	13	3	1	1	0	1	1	0	1	2	1	2	4	3	3	1	4	3	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:77228770C>A	ENST00000248248.3	+	4	1364	c.1014C>A	c.(1012-1014)gcC>gcA	p.A338A	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Silent_p.A229A|MON1B_ENST00000545553.1_Silent_p.A192A	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	338										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTTTCTACGCCTACGTGGCCC	0.637																																						.											0													97	99	98					16																	77228770		2198	4300	6498	SO:0001819	synonymous_variant	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1014C>A	16.37:g.77228770C>A			B4DDZ0|O94949	Silent	SNP	ENST00000248248.3	37	CCDS10925.1																																																																																				0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		A	77228770	C	A	77228770	2	1	43	1	0	0	0	0	0	0	0	1	9699	668	24	5		5	MON1B	16	77228770	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	4406126	77228770	13125983	813	3990											
WFDC1	58189	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	84353088	84353088	+	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	cgaacccctgctctgtccctCgggctatgagtgccacatcc	6	9	9	17	2	1	1	0	1	1	0	4	2	3	1	5	1	3	2	5	1	2	1	rs145066295		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:84353088C>T	ENST00000219454.5	+	4	799	c.473C>T	c.(472-474)tCg>tTg	p.S158L	WFDC1_ENST00000568638.1_Missense_Mutation_p.S158L	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	158					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S158L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCTGTCCCTCGGGCTATGAG	0.662													C|||	1	0.000199681	0	0	5008	,	,		20424	0.001		0	False		,,,				2504	0					.											1	Substitution - Missense(1)	endometrium(1)						C	LEU/SER	1,4399	2.1+/-5.4	0,1,2199	80	62	68		473	4.4	1	16	dbSNP_134	68	1,8599		0,1,4299	no	missense	WFDC1	NM_021197.2	145	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	benign	158/221	84353088	2,12998	2200	4300	6500	SO:0001583	missense	58189			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"WAP four-disulfide core domain containing"	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.473C>T	16.37:g.84353088C>T	ENSP00000219454:p.Ser158Leu		D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516037	0.64634	2.27E-4	1.16E-4	ENSG00000103175	ENST00000219454	T	0.32753	1.44	4.43	4.43	0.53597	.	0.130447	0.49916	D	0.000127	T	0.21962	0.0529	N	0.24115	0.695	0.45704	D	0.998618	P	0.40083	0.702	B	0.35240	0.198	T	0.10451	-1.0629	10	0.62326	D	0.03	-16.3228	15.7941	0.78394	0.0:1.0:0.0:0.0	.	158	Q9HC57	WFDC1_HUMAN	L	158	ENSP00000219454:S158L	ENSP00000219454:S158L	S	+	2	0	WFDC1	82910589	1.000000	0.71417	0.986000	0.45419	0.725000	0.41563	6.721000	0.74728	2.295000	0.77249	0.555000	0.69702	TCG		0.662	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			T	84353088	C	T	84353088	3	4	43	1	0	0	0	0	1	0	0	0	17343	893	31	1	487	1	WFDC1	16	84353088	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7124318	84353088	6001665	814	3991											
USP10	9100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	84778426	84778426	+	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	gaagcaagctatggctccatCgactgccagtacccaggctc	10	7	10	14	1	0	0	0	0	0	0	3	2	1	0	3	2	4	5	3	2	4	2	rs200755558	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:84778426C>T	ENST00000219473.7	+	4	452	c.339C>T	c.(337-339)atC>atT	p.I113I	USP10_ENST00000570191.1_Silent_p.I117I|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	113					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						ATGGCTCCATCGACTGCCAGT	0.488													C|||	2	0.000399361	0	0	5008	,	,		16534	0.002		0	False		,,,				2504	0					.											0													70	69	69					16																	84778426		1853	4099	5952	SO:0001819	synonymous_variant	9100			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.339C>T	16.37:g.84778426C>T			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																				0.488	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			T	84778426	C	T	84778426	2	4	43	1	0	0	0	0	0	0	0	1	17038	874	31	1		1	USP10	16	84778426	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	425338	84778426	5576327	815	3992											
ACSF3	197322	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr16	89169104	89169104	+	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	gtccatggtgtggtcaacgcGctgctctgtcctctctgggt	3	13	13	12	2	3	0	1	0	2	0	6	0	5	0	2	3	2	2	2	3	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:89169104G>A	ENST00000317447.4	+	4	1136	c.759G>A	c.(757-759)gcG>gcA	p.A253A	ACSF3_ENST00000406948.3_Silent_p.A253A|ACSF3_ENST00000378345.4_De_novo_Start_InFrame	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	253					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGTCAACGCGCTGCTCTGTC	0.627																																						.											0													130	93	106					16																	89169104		2198	4300	6498	SO:0001819	synonymous_variant	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.759G>A	16.37:g.89169104G>A			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	37	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	3.211	-0.161523	0.06502	.	.	ENSG00000176715	ENST00000543676	.	.	.	5.02	5.02	0.67125	.	0.090843	0.85682	D	0.000000	T	0.74238	0.3690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73720	-0.3894	5	.	.	.	-30.6413	18.3267	0.90256	0.0:0.0:1.0:0.0	.	.	.	.	T	1	.	.	A	+	1	0	ACSF3	87696605	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.177000	0.77650	2.326000	0.78906	0.467000	0.42956	GCT		0.627	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		A	89169104	G	A	89169104	2	1	43	1	0	0	0	0	0	0	0	1	176	1074	38	1		1	ACSF3	16	89169104	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4390678	89169104	1185649	816	3993											
DEF8	54849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	90020686	90020686	+	Missense_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	atatgatgagaagctggcccGtttccggcaggcccacctca	9	8	11	13	2	1	2	1	2	0	1	2	3	2	2	4	3	1	3	4	3	2	2	rs373457887		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:90020686G>A	ENST00000268676.7	+	3	298	c.209G>A	c.(208-210)cGt>cAt	p.R70H	DEF8_ENST00000563594.1_Missense_Mutation_p.R9H|DEF8_ENST00000563795.1_Missense_Mutation_p.R9H|DEF8_ENST00000418391.2_Missense_Mutation_p.R9H|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Missense_Mutation_p.R9H|DEF8_ENST00000570182.1_Missense_Mutation_p.R9H	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	70					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AAGCTGGCCCGTTTCCGGCAG	0.632																																						.											0								G	HIS/ARG,,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	74	71	72		26,,26,26,26,26,26,26,209	5.1	1	16		72	0,8600		0,0,4300	no	missense,intron,missense,missense,missense,missense,missense,missense,missense	DEF8	NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_001242821.1,NM_001242822.1,NM_017702.3,NM_207514.2	29,,29,29,29,29,29,29,29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,benign,benign,benign,benign,benign,benign	9/442,,9/452,9/435,9/452,9/198,9/198,9/198,70/513	90020686	1,12995	2198	4300	6498	SO:0001583	missense	54849			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.209G>A	16.37:g.90020686G>A	ENSP00000268676:p.Arg70His		B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230866	0.79688	2.27E-4	0.0	ENSG00000140995	ENST00000268676;ENST00000418391	T;T	0.50277	0.75;0.76	5.11	5.11	0.69529	.	0.412580	0.24735	N	0.036023	T	0.47451	0.1446	M	0.69823	2.125	0.38061	D	0.936082	B;B;B;P	0.35600	0.116;0.116;0.014;0.511	B;B;B;B	0.25291	0.016;0.016;0.003;0.059	T	0.60566	-0.7238	10	0.87932	D	0	-15.9482	17.6689	0.88211	0.0:0.0:1.0:0.0	.	9;9;70;9	Q6ZN54-5;Q6ZN54-3;Q6ZN54;Q6ZN54-2	.;.;DEFI8_HUMAN;.	H	70;9	ENSP00000268676:R70H;ENSP00000412784:R9H	ENSP00000268676:R70H	R	+	2	0	DEF8	88548187	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.092000	0.57707	2.538000	0.85594	0.561000	0.74099	CGT		0.632	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		A	90020686	G	A	90020686	3	1	43	1	0	0	0	0	1	0	0	0	4387	1145	40	1	215	1	DEF8	16	90020686	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	851582	90020686	334067	817	3994											
C16orf3	2622	mdanderson.org	37	chr16	90095596	90095597	+	Intron	DNP	AT	AT	GC																															ggcagcttacggggcaggctAtggggcagcctacggggcag																								rs61118444|rs55742939|rs71137702	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:90095596_90095597AT>GC	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.I52A|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						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)		ggggcaggctatggggcagcct	0.663																																						.											0																																										SO:0001627	intron_variant	750			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	Exception_encountered	16.37:g.90095596_90095597delinsGC			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	DNP	ENST00000268699.4	37	CCDS10992.1																																																																																				0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			GC	90095597	AT	GC	90095596	1	3	43	0	1	0	0	0	0	0	0	0	1812	449	16	4		4	C16orf3	16	90095596	Intron	DNP	AT	TCGA-KN-8428-01A-11D-2310-10	74910	90095596	259157	818	3995											
ITGAE	3682	hgsc.bcm.edu;ucsc.edu	37	chr17	3649159	3649159	+	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	tcttacgtctgaacactgcaGccgtctcctctgcttcccca	6	12	6	17	2	4	1	0	1	4	0	6	1	5	1	4	0	5	2	4	0	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:3649159G>A	ENST00000263087.4	-	18	2316	c.2218C>T	c.(2218-2220)Ctg>Ttg	p.L740L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	740					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)		GAACACTGCAGCCGTCTCCTC	0.597																																					NSCLC(182;635 2928 8995 38788)	.											0													137	110	119					17																	3649159		2203	4300	6503	SO:0001819	synonymous_variant	3682			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.2218C>T	17.37:g.3649159G>A			Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.597	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		A	3649159	G	A	3649159	2	1	43	1	0	0	0	0	0	0	0	1	7885	962	34	4		4	ITGAE	17	3649159	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10		3649159	77546051	819	3996											
ATP2A3	489	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr17	3839671	3839671	+	Missense_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	gcgggttgaagcccagagccGtggcaggtaggccgtctgtc	6	7	17	11	3	1	2	0	1	1	1	2	2	1	2	3	4	2	3	3	4	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:3839671G>A	ENST00000352011.3	-	16	2468	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M	ATP2A3_ENST00000397035.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000397039.1_De_novo_Start_InFrame|ATP2A3_ENST00000397043.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000309890.7_Missense_Mutation_p.T805M|ATP2A3_ENST00000397041.3_Missense_Mutation_p.T805M			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	805					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.T805M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCAGAGCCGTGGCAGGTAG	0.622																																					GBM(32;29 774 15719 37967)	.											1	Substitution - Missense(1)	large_intestine(1)											76	78	77					17																	3839671		2203	4300	6503	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2414C>T	17.37:g.3839671G>A	ENSP00000301387:p.Thr805Met		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131325	0.77549	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	4.16	4.16	0.48862	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.987;0.996;0.995;0.995;0.987	D;P;P;P;P;P	0.87578	0.998;0.52;0.551;0.52;0.52;0.52	D	0.97484	1.0049	10	0.49607	T	0.09	.	16.7249	0.85419	0.0:0.0:1.0:0.0	.	805;805;805;805;805;805	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	M	805	ENSP00000380236:T805M;ENSP00000301387:T805M;ENSP00000353072:T805M;ENSP00000380234:T805M;ENSP00000312577:T805M;ENSP00000380229:T805M	ENSP00000312577:T805M	T	-	2	0	ATP2A3	3786420	1.000000	0.71417	0.963000	0.40424	0.828000	0.46876	9.657000	0.98554	2.607000	0.88179	0.561000	0.74099	ACG		0.622	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		A	3839671	G	A	3839671	3	1	43	1	0	0	0	0	1	0	0	0	1138	1145	40	1	820	1	ATP2A3	17	3839671	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	190512	3839671	77355539	820	3997											
SMTNL2	342527	hgsc.bcm.edu;ucsc.edu	37	chr17	4500239	4500239	+	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	agcatcaagcagatcctgctCgagtggtgccgcagcaagac	11	6	12	12	2	1	2	1	0	0	2	3	3	2	2	2	1	5	5	2	1	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:4500239C>T	ENST00000389313.4	+	6	1141	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	SMTNL2_ENST00000338859.4_Silent_p.L214L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	358	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGATCCTGCTCGAGTGGTGCC	0.692																																						.											0													12	11	11					17																	4500239		2105	4143	6248	SO:0001819	synonymous_variant	342527			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.1074C>T	17.37:g.4500239C>T			Q6ZVK6	Silent	SNP	ENST00000389313.4	37	CCDS45583.1																																																																																				0.692	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		T	4500239	C	T	4500239	2	4	43	1	0	0	0	0	0	0	0	1	14816	871	31	1		1	SMTNL2	17	4500239	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	660568	4500239	76694971	821	3998											
USP6	9098	mdanderson.org	37	chr17	5044784	5044784	+	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	gcaaatagtagtaaaatagaTagacaaaagggtaagtctcc	19	8	9	5	0	1	2	0	0	1	2	2	2	1	2	1	1	0	4	1	1	10	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:5044784T>C	ENST00000574788.1	+	23	3793	c.1563T>C	c.(1561-1563)gaT>gaC	p.D521D	USP6_ENST00000250066.6_Silent_p.D521D|USP6_ENST00000304328.5_Silent_p.D204D|USP6_ENST00000332776.4_Silent_p.D521D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	521					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						GTAAAATAGATAGACAAAAGG	0.294			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													82	78	79					17																	5044784		2203	4295	6498	SO:0001819	synonymous_variant	9098			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.1563T>C	17.37:g.5044784T>C			Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.294	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		C	5044784	T	C	5044784	2	2	43	1	0	0	0	0	0	0	0	1	17083	1403	49	4		4	USP6	17	5044784	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	544545	5044784	76150426	822	3999											
NLRP1	22861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	5436264	5436264	+	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	tgagaggcaggagaaggcacGcacaagagttccaccggtac	13	4	14	10	2	0	3	0	1	0	3	1	5	1	3	2	4	1	5	2	4	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:5436264G>A	ENST00000572272.1	-	11	3173	c.3174C>T	c.(3172-3174)tgC>tgT	p.C1058C	NLRP1_ENST00000354411.3_Silent_p.C1028C|NLRP1_ENST00000262467.5_Silent_p.C1062C|NLRP1_ENST00000577119.1_Silent_p.C1028C|NLRP1_ENST00000269280.4_Silent_p.C1058C|NLRP1_ENST00000345221.3_Silent_p.C1058C|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1058					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)				GAGAAGGCACGCACAAGAGTT	0.607																																						.											0													88	77	81					17																	5436264		2203	4300	6503	SO:0001819	synonymous_variant	22861			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.3174C>T	17.37:g.5436264G>A			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																				0.607	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		A	5436264	G	A	5436264	2	1	43	1	0	0	0	0	0	0	0	1	10471	1079	38	1		1	NLRP1	17	5436264	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	391480	5436264	75758946	823	4000											
SLC16A13	201232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	6941569	6941569	+	Missense_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	ccgggctggcactgacaggcGtgggcctctcctccttcaca	5	8	12	16	2	2	1	1	1	1	0	4	1	3	1	4	4	0	2	4	4	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:6941569G>A	ENST00000308027.6	+	3	750	c.442G>A	c.(442-444)Gtg>Atg	p.V148M		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	148						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ACTGACAGGCGTGGGCCTCTC	0.642																																						.											0													77	81	80					17																	6941569		2203	4300	6503	SO:0001583	missense	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.442G>A	17.37:g.6941569G>A	ENSP00000309751:p.Val148Met		A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558032	0.65538	.	.	ENSG00000174327	ENST00000308027	T	0.37584	1.19	5.54	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.212945	0.40640	N	0.001057	T	0.23886	0.0578	N	0.24115	0.695	0.45046	D	0.998069	P	0.37398	0.593	B	0.33521	0.165	T	0.06516	-1.0822	10	0.48119	T	0.1	.	12.5283	0.56100	0.095:0.0:0.905:0.0	.	148	Q7RTY0	MOT13_HUMAN	M	148	ENSP00000309751:V148M	ENSP00000309751:V148M	V	+	1	0	SLC16A13	6882293	1.000000	0.71417	0.988000	0.46212	0.914000	0.54420	4.252000	0.58785	2.602000	0.87976	0.563000	0.77884	GTG		0.642	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			A	6941569	G	A	6941569	3	1	43	1	0	0	0	0	1	0	0	0	14406	1145	40	1	452	1	SLC16A13	17	6941569	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1505305	6941569	74253641	824	4001											
NEURL4	84461	hgsc.bcm.edu;mdanderson.org	37	chr17	7228701	7228701	+	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	cggcggagacggtcactgtgGttgttattgtggacgatggt	6	12	17	6	4	1	1	1	0	0	1	1	4	1	2	0	6	0	2	0	6	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7228701G>A	ENST00000399464.2	-	8	1473	c.1458C>T	c.(1456-1458)aaC>aaT	p.N486N	NEURL4_ENST00000315614.7_Silent_p.N486N|NEURL4_ENST00000570460.1_Silent_p.N464N	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	486						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						GGTCACTGTGGTTGTTATTGT	0.642																																						.											0													111	122	119					17																	7228701		2123	4217	6340	SO:0001819	synonymous_variant	84461				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.1458C>T	17.37:g.7228701G>A			Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	CCDS42251.1																																																																																				0.642	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7228701	G	A	7228701	2	1	43	1	0	0	0	0	0	0	0	1	10347	1252	44	3		3	NEURL4	17	7228701	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	287132	7228701	73966509	825	4002											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7578263	7578263	+	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	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3	rs397516435		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	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;	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578263	G	A	7578263	4	1	43	1	0	0	0	0	0	1	0	0	16378	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	349562	7578263	73616947	826	4003											
CHD3	1107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7814222	7814222	+	Missense_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	acggggcggccttcagcgccGcacccgtaggggccctggcc	4	4	16	17	5	1	0	1	0	0	0	1	0	1	0	5	6	1	2	5	6	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7814222G>A	ENST00000330494.7	+	39	5962	c.5812G>A	c.(5812-5814)Gca>Aca	p.A1938T	AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000380358.4_Missense_Mutation_p.A1997T|CHD3_ENST00000358181.4_Missense_Mutation_p.A1904T	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1938	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)				CTTCAGCGCCGCACCCGTAGG	0.627																																						.											0													61	72	68					17																	7814222		2203	4299	6502	SO:0001583	missense	1107			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.5812G>A	17.37:g.7814222G>A	ENSP00000332628:p.Ala1938Thr		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.87|11.87	1.767540|1.767540	0.31320|0.31320	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000439235;ENST00000449744	D;D;D|.	0.90385|.	-2.66;-2.59;-2.59|.	5.05|5.05	3.02|3.02	0.34903|0.34903	.|.	0.000000|.	0.42821|.	D|.	0.000656|.	T|T	0.32912|0.32912	0.0845|0.0845	N|N	0.14661|0.14661	0.345|0.345	0.33703|0.33703	D|D	0.614842|0.614842	B;B;B;B;B|.	0.11235|.	0.003;0.004;0.0;0.0;0.002|.	B;B;B;B;B|.	0.04013|.	0.001;0.001;0.001;0.0;0.001|.	T|T	0.47341|0.47341	-0.9125|-0.9125	10|6	0.20519|0.56958	T|D	0.43|0.05	-6.0176|-6.0176	6.1389|6.1389	0.20249|0.20249	0.3916:0.0:0.6084:0.0|0.3916:0.0:0.6084:0.0	.|.	917;515;1904;1938;1997|.	B4DLC6;B3KWV4;Q12873-2;Q12873;E9PG89|.	.;.;.;CHD3_HUMAN;.|.	T|H	1997;1904;1938|281;175	ENSP00000369716:A1997T;ENSP00000350907:A1904T;ENSP00000332628:A1938T|.	ENSP00000332628:A1938T|ENSP00000395252:R281H	A|R	+|+	1|2	0|0	CHD3|CHD3	7754947|7754947	0.705000|0.705000	0.27846|0.27846	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	2.108000|2.108000	0.41854|0.41854	1.358000|1.358000	0.45922|0.45922	0.604000|0.604000	0.83254|0.83254	GCA|CGC		0.627	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		A	7814222	G	A	7814222	3	1	43	1	0	0	0	0	1	0	0	0	3326	1087	38	1	6247	1	CHD3	17	7814222	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	235959	7814222	73380988	827	4004											
PER1	5187	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	8044491	8044491	+	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	gagcttgaagccttggccccGccttgggcctcctcgcagcc	4	8	12	17	2	0	1	0	1	0	0	2	2	1	1	7	2	3	2	7	2	1	3	rs199916672	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:8044491G>A	ENST00000317276.4	-	23	4005	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	PER1_ENST00000581082.1_Silent_p.G1233G|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1256	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTTGGCCCCGCCTTGGGCCT	0.637			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					G|||	3	0.000599042	0	0	5008	,	,		18924	0		0	False		,,,				2504	0.0031					.		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								G		0,4406		0,0,2203	156	168	164		3768	0.2	0	17		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PER1	NM_002616.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1256/1291	8044491	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3768C>T	17.37:g.8044491G>A			B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	CCDS11131.1																																																																																				0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8044491	G	A	8044491	2	1	43	1	0	0	0	0	0	0	0	1	11729	1074	38	1		1	PER1	17	8044491	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	230269	8044491	73150719	828	4005											
MYH13	8735	ucsc.edu;mdanderson.org	37	chr17	10267836	10267836	+	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	ccaaaaatggccatttctgcGtcagagctcatgactgcaga	12	9	9	11	1	3	3	2	1	1	2	3	3	3	3	2	1	3	2	2	1	2	1	rs34042358	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:10267836G>A	ENST00000418404.3	-	2	175	c.12C>T	c.(10-12)gaC>gaT	p.D4D	MYH13_ENST00000252172.4_Silent_p.D4D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	4					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						CCATTTCTGCGTCAGAGCTCA	0.527																																						.											0													49	46	47					17																	10267836		1937	4152	6089	SO:0001819	synonymous_variant	8735			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.12C>T	17.37:g.10267836G>A			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10267836	G	A	10267836	2	1	43	1	0	0	0	0	0	0	0	1	10032	1136	40	1		1	MYH13	17	10267836	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2223345	10267836	70927374	829	4006											
ELAC2	60528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	12896262	12896262	+	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	cccgcacctgccgcagctccCgcttctccctgcgctcctcc	2	8	7	24	4	1	0	0	0	1	0	5	0	4	0	7	0	3	5	7	0	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:12896262C>T	ENST00000338034.4	-	24	2593	c.2354G>A	c.(2353-2355)cGg>cAg	p.R785Q	RP11-597M12.1_ENST00000582915.1_RNA|ELAC2_ENST00000395962.2_Missense_Mutation_p.R766Q|ELAC2_ENST00000426905.3_Missense_Mutation_p.R745Q	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	785					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						CCGCAGCTCCCGCTTCTCCCT	0.647																																						.											0													53	56	55					17																	12896262		2203	4300	6503	SO:0001583	missense	60528			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.2354G>A	17.37:g.12896262C>T	ENSP00000337445:p.Arg785Gln		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865682	0.71949	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.69040	0.15;-0.33;-0.37	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.978;0.992;0.996;0.992;0.992;0.978;0.992;0.996	D	0.83997	0.0341	10	0.66056	D	0.02	-33.6924	16.9478	0.86235	0.0:1.0:0.0:0.0	.	745;768;766;583;785;545;770;413	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	Q	745;785;766	ENSP00000405223:R745Q;ENSP00000337445:R785Q;ENSP00000379291:R766Q	ENSP00000337445:R785Q	R	-	2	0	ELAC2	12836987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.133000	0.77259	2.593000	0.87608	0.655000	0.94253	CGG		0.647	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			T	12896262	C	T	12896262	3	4	43	1	0	0	0	0	1	0	0	0	5047	652	23	1	130	1	ELAC2	17	12896262	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2628426	12896262	68298948	830	4007											
MED9	55090	ucsc.edu	37	chr17	17380564	17380564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttttacctttggttcAcaacatcatcaaatggtaag	11	15	5	10	0	3	0	3	0	0	0	4	0	4	0	2	2	2	2	2	2	4	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:17380564A>G	ENST00000268711.3	+	1	265	c.209A>G	c.(208-210)cAc>cGc	p.H70R	MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Missense_Mutation_p.H70R	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	70						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						CCTTTGGTTCACAACATCATC	0.597																																						.											0													34	34	34					17																	17380564		2203	4300	6503	SO:0001583	missense	55090			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.209A>G	17.37:g.17380564A>G	ENSP00000268711:p.His70Arg			Missense_Mutation	SNP	ENST00000268711.3	37	CCDS11184.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338659	0.81911	.	.	ENSG00000141026	ENST00000268711	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	L	0.59912	1.85	0.44439	D	0.997367	D	0.62365	0.991	D	0.78314	0.991	T	0.71609	-0.4541	9	0.48119	T	0.1	-36.0499	12.4145	0.55486	1.0:0.0:0.0:0.0	.	70	Q9NWA0	MED9_HUMAN	R	70	.	ENSP00000268711:H70R	H	+	2	0	MED9	17321289	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.540000	0.60664	2.182000	0.69389	0.482000	0.46254	CAC		0.597	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		G	17380564	A	G	17380564	3	3	43	1	0	0	0	0	1	0	0	0	9454	159	6	2	211	2	MED9	17	17380564	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	4484302	17380564	63814646	831	4008											
MYO15A	51168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	18052173	18052173	+	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	ctacgtgttagacctggtgtCggacctggagctgctcaggg	6	10	15	10	2	1	1	1	0	0	1	2	3	1	3	2	4	3	3	2	4	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:18052173C>T	ENST00000205890.5	+	33	7201	c.6863C>T	c.(6862-6864)tCg>tTg	p.S2288L	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2288	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GACCTGGTGTCGGACCTGGAG	0.627																																						.											0													24	27	26					17																	18052173		2055	4201	6256	SO:0001583	missense	51168			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.6863C>T	17.37:g.18052173C>T	ENSP00000205890:p.Ser2288Leu		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	17.57	3.421513	0.62622	.	.	ENSG00000091536	ENST00000205890	D	0.89810	-2.57	4.48	4.48	0.54585	.	.	.	.	.	D	0.89252	0.6662	M	0.76002	2.32	0.80722	D	1	D	0.58970	0.984	P	0.45538	0.484	D	0.90609	0.4550	9	0.66056	D	0.02	.	13.1395	0.59426	0.0:0.8391:0.1609:0.0	.	2288	Q9UKN7	MYO15_HUMAN	L	2288	ENSP00000205890:S2288L	ENSP00000205890:S2288L	S	+	2	0	MYO15A	17992898	1.000000	0.71417	0.984000	0.44739	0.907000	0.53573	5.725000	0.68507	2.322000	0.78497	0.450000	0.29827	TCG		0.627	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18052173	C	T	18052173	3	4	43	1	0	0	0	0	1	0	0	0	10063	893	31	1	6985	1	MYO15A	17	18052173	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	671609	18052173	63143037	832	4009											
SLC5A10	125206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	18923133	18923133	+	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	gagccagacacgcggccagcCgtcctggggagcatccacta	9	4	13	15	3	0	1	0	0	0	1	2	3	2	2	5	3	3	1	5	3	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:18923133C>T	ENST00000395645.3	+	13	1536	c.1518C>T	c.(1516-1518)gcC>gcT	p.A506A	SLC5A10_ENST00000395643.2_Silent_p.A479A|SLC5A10_ENST00000395642.1_Silent_p.A476A|SLC5A10_ENST00000395647.2_Silent_p.A522A|SLC5A10_ENST00000417251.2_Silent_p.A470A|SLC5A10_ENST00000317977.6_Silent_p.A476A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	506					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						CGCGGCCAGCCGTCCTGGGGA	0.657																																						.											0													47	44	45					17																	18923133		2203	4299	6502	SO:0001819	synonymous_variant	125206				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.1518C>T	17.37:g.18923133C>T			A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.657	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		T	18923133	C	T	18923133	2	4	43	1	0	0	0	0	0	0	0	1	14662	639	23	1		1	SLC5A10	17	18923133	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	870960	18923133	62272077	833	4010											
MYO18A	399687	broad.mit.edu	37	chr17	27423863	27423863	+	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	cttgcagctcagccgtcagtCgctggcacttcttcttgagc	5	12	10	14	2	4	1	2	1	2	0	5	1	4	1	1	1	4	4	1	1	0	4	rs375872794		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:27423863C>T	ENST00000527372.1	-	28	4481	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1434Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1434Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1434Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1434					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)			AGCCGTCAGTCGCTGGCACTT	0.617																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	.											0								C	GLN/ARG,GLN/ARG	1,4255		0,1,2127	28	31	30		4301,4301	5.5	1	17		30	0,8536		0,0,4268	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	43,43	0,1,6395	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	1434/2055,1434/2040	27423863	1,12791	2128	4268	6396	SO:0001583	missense	399687			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.4301G>A	17.37:g.27423863C>T	ENSP00000437073:p.Arg1434Gln		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306160	0.95629	2.35E-4	0.0	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;T;D;D	0.83250	-1.7;1.57;-1.7;-1.7	5.53	5.53	0.82687	Myosin tail (1);	0.105696	0.64402	D	0.000013	D	0.90079	0.6901	M	0.77820	2.39	0.33459	D	0.584714	D;D;D;D;D	0.65815	0.99;0.975;0.975;0.975;0.995	P;P;P;P;P	0.58210	0.593;0.482;0.482;0.482;0.835	D	0.93109	0.6515	10	0.72032	D	0.01	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1103;1046;1434;1434;1434	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	Q	1434;1434;1434;1434;1434;330;330;1046	ENSP00000346291:R1434Q;ENSP00000435932:R1434Q;ENSP00000434228:R1434Q;ENSP00000437073:R1434Q	ENSP00000346291:R1434Q	R	-	2	0	MYO18A	24447989	0.977000	0.34250	0.999000	0.59377	0.922000	0.55478	2.369000	0.44231	2.606000	0.88127	0.591000	0.81541	CGA		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27423863	C	T	27423863	3	4	43	1	0	0	0	0	1	0	0	0	10065	884	31	1	1923	1	MYO18A	17	27423863	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8500730	27423863	53771347	834	4011											
GIT1	28964	broad.mit.edu	37	chr17	27901911	27901911	+	Missense_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	gagcagccgcagtgagctccGcactggctccagggctggcc	6	5	15	15	2	0	1	0	1	0	0	2	2	2	1	4	3	3	6	4	3	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:27901911G>A	ENST00000225394.3	-	20	2343	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_3'UTR|GIT1_ENST00000581348.1_Missense_Mutation_p.R685W|GIT1_ENST00000394869.3_Missense_Mutation_p.R708W	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	699	Interaction with PXN and TGFB1I1. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGTGAGCTCCGCACTGGCTCC	0.657																																					Colon(81;41 1719 20078 35068)	.											0													9	10	10					17																	27901911		2177	4255	6432	SO:0001583	missense	28964			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.2095C>T	17.37:g.27901911G>A	ENSP00000225394:p.Arg699Trp		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879048	0.72294	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.75938	-0.92;-0.98	4.65	4.65	0.58169	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.063541	0.64402	D	0.000005	D	0.87676	0.6237	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.994	D	0.89738	0.3931	10	0.87932	D	0	.	17.7096	0.88318	0.0:0.0:1.0:0.0	.	712;708;699	Q59FC3;B4DGU9;Q9Y2X7	.;.;GIT1_HUMAN	W	699;708	ENSP00000225394:R699W;ENSP00000378338:R708W	ENSP00000225394:R699W	R	-	1	2	GIT1	24926037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.645000	0.46621	2.574000	0.86865	0.655000	0.94253	CGG		0.657	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		A	27901911	G	A	27901911	3	1	43	1	0	0	0	0	1	0	0	0	6396	1086	38	1	194	1	GIT1	17	27901911	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	478048	27901911	53293299	835	4012											
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	29653046	29653046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagtctatatctataacTgtaactcctgggtcagggag	10	11	10	10	1	3	0	1	0	2	0	4	1	4	1	2	2	2	2	2	2	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:29653046T>C	ENST00000358273.4	+	37	5427	c.5044T>C	c.(5044-5046)Tgt>Cgt	p.C1682R	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.C1661R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1682	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				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)		TATCTATAACTGTAACTCCTG	0.463			"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)																												.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											104	99	101					17																	29653046		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		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.5044T>C	17.37:g.29653046T>C	ENSP00000351015:p.Cys1682Arg		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495195	0.85069	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.62498	0.02;0.02;0.02	5.63	5.63	0.86233	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.998;0.99	T	0.82862	-0.0247	10	0.72032	D	0.01	.	15.0195	0.71617	0.0:0.0:0.0:1.0	.	711;1661;1682	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	R	1682;1661;1327	ENSP00000351015:C1682R;ENSP00000348498:C1661R;ENSP00000389907:C1327R	ENSP00000348498:C1661R	C	+	1	0	NF1	26677172	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.665000	0.83852	2.156000	0.67533	0.528000	0.53228	TGT		0.463	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29653046	T	C	29653046	3	2	43	1	0	0	0	0	1	0	0	0	10356	1580	55	2	5251	2	NF1	17	29653046	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1751135	29653046	51542164	836	4013											
GPR179	440435	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr17	36499408	36499408	+	Missense_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	taggcttggggggagccctgGcatggctcctgccccacgcg	4	7	16	14	2	0	0	0	0	0	0	1	1	1	1	4	6	2	3	4	6	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:36499408G>A	ENST00000342292.4	-	1	285	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	89					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)				GGGAGCCCTGGCATGGCTCCT	0.627																																						.											0													26	27	27					17																	36499408		1973	4131	6104	SO:0001583	missense	440435				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.265C>T	17.37:g.36499408G>A	ENSP00000345060:p.Pro89Ser			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	2.305	-0.359368	0.05138	.	.	ENSG00000188888	ENST00000342292	T	0.77877	-1.13	5.32	-6.93	0.01638	.	1.079380	0.07091	N	0.838662	T	0.61211	0.2329	L	0.28694	0.88	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.53823	-0.8384	10	0.44086	T	0.13	0.5925	11.1639	0.48531	0.3154:0.5573:0.1273:0.0	.	89	Q6PRD1	GP179_HUMAN	S	89	ENSP00000345060:P89S	ENSP00000345060:P89S	P	-	1	0	GPR179	33752934	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.709000	0.05030	-1.063000	0.03177	-0.768000	0.03414	CCA		0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36499408	G	A	36499408	3	1	43	1	0	0	0	0	1	0	0	0	6674	1203	42	3	6882	3	GPR179	17	36499408	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6846362	36499408	44695802	837	4014											
SOCS7	30837	broad.mit.edu	37	chr17	36521270	36521270	+	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	cagtctttccccctacctccGcctcctccaccccatgcccc	4	9	3	25	1	1	0	0	0	1	0	5	0	5	0	11	0	2	0	11	0	1	2	rs149190855		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:36521270G>A	ENST00000577233.1	+	4	1038	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	346	Mediates interaction with SORBS3.|Poly-Pro.				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)					CCCTACCTCCGCCTCCTCCAC	0.498																																						.											0								G		0,4406		0,0,2203	87	81	83		1038	2.5	1	17	dbSNP_134	83	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SOCS7	NM_014598.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		346/582	36521270	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	30837			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.1038G>A	17.37:g.36521270G>A			A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	37	CCDS32637.1																																																																																				0.498	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		A	36521270	G	A	36521270	2	1	43	1	0	0	0	0	0	0	0	1	14919	1074	38	1		1	SOCS7	17	36521270	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	21862	36521270	44673940	838	4015											
GRB7	2886	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	37900401	37900401	+	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	caggacggaagctttggaaaCgctttttctgcttcttgcgc	7	13	11	10	3	2	0	0	0	2	0	2	3	2	3	0	3	4	3	0	3	2	5	rs373836261		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:37900401C>T	ENST00000309156.4	+	7	999	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GRB7_ENST00000309185.3_Missense_Mutation_p.R248C|GRB7_ENST00000394209.2_Missense_Mutation_p.R248C|GRB7_ENST00000445327.2_Missense_Mutation_p.R271C|GRB7_ENST00000394211.3_Missense_Mutation_p.R248C|GRB7_ENST00000394204.1_Missense_Mutation_p.R248C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	248	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)			GCTTTGGAAACGCTTTTTCTG	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		17930	0		0	False		,,,				2504	0					.											0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	173	173	173		742,811,742,742	5.5	1	17		173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/533,271/556,248/533,248/533	37900401	1,13005	2203	4300	6503	SO:0001583	missense	2886			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.742C>T	17.37:g.37900401C>T	ENSP00000310771:p.Arg248Cys		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328103	0.81690	0.0	1.16E-4	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.47	5.47	0.80525	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.111742	0.64402	D	0.000015	T	0.39600	0.1084	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	T	0.11397	-1.0589	10	0.87932	D	0	-28.253	13.697	0.62587	0.155:0.845:0.0:0.0	.	248;248	Q14451-2;Q14451	.;GRB7_HUMAN	C	248;248;248;248;271;248	ENSP00000311752:R248C;ENSP00000310771:R248C;ENSP00000377761:R248C;ENSP00000377759:R248C;ENSP00000403459:R271C;ENSP00000377754:R248C	ENSP00000310771:R248C	R	+	1	0	GRB7	35153927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.202000	0.51067	2.571000	0.86741	0.561000	0.74099	CGC		0.567	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		T	37900401	C	T	37900401	3	4	43	1	0	0	0	0	1	0	0	0	6759	536	19	1	764	1	GRB7	17	37900401	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1379131	37900401	43294809	839	4016											
RAPGEFL1	51195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	38345215	38345215	+	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	tgcagacccgggtggccttcCggggctctgatgagagtgag	6	8	17	10	2	1	4	0	3	1	2	2	5	2	4	3	4	1	2	3	4	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38345215C>T	ENST00000456989.2	+	5	524	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.R105W|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R154W|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R105W|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	311					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGTGGCCTTCCGGGGCTCTGA	0.612																																					Esophageal Squamous(28;274 750 6870 14218 42203)	.											0													39	43	41					17																	38345215		2203	4300	6503	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.478C>T	17.37:g.38345215C>T	ENSP00000394530:p.Arg160Trp			Missense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.198133	0.79015	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.73	4.73	0.59995	Ras guanine nucleotide exchange factor, domain (1);	0.063189	0.64402	D	0.000014	T	0.63861	0.2547	L	0.58101	1.795	0.53688	D	0.999976	D;D	0.89917	0.999;1.0	D;D	0.87578	0.96;0.998	T	0.66803	-0.5831	10	0.87932	D	0	.	12.5738	0.56352	0.3021:0.6979:0.0:0.0	.	41;311	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	W	160;105;154;105;310;105	ENSP00000394530:R160W;ENSP00000440226:R105W;ENSP00000438631:R154W;ENSP00000408322:R105W	ENSP00000264644:R310W	R	+	1	2	RAPGEFL1	35598741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.343000	0.44001	1.355000	0.45865	0.655000	0.94253	CGG		0.612	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		T	38345215	C	T	38345215	3	4	43	1	0	0	0	0	1	0	0	0	13049	643	23	1	323	1	RAPGEFL1	17	38345215	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	444814	38345215	42849995	840	4017											
RARA	5914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	38512460	38512460	+	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	agctccaacagaagcagcccGgccacccactccccgtgacc	10	3	8	20	2	0	2	0	1	0	1	2	2	2	2	7	1	4	2	7	1	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38512460G>T	ENST00000254066.5	+	9	1826	c.1371G>T	c.(1369-1371)ccG>ccT	p.P457P	RARA_ENST00000425707.3_Silent_p.P360P|RARA_ENST00000394081.3_Silent_p.P452P|RARA_ENST00000394089.2_Silent_p.P457P|RARA_ENST00000394086.3_Silent_p.P473P|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	457					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)	GAAGCAGCCCGGCCACCCACT	0.731			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																	.		Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	0													2	2	2					17																	38512460		1439	2883	4322	SO:0001819	synonymous_variant	5914			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.1371G>T	17.37:g.38512460G>T			B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265831	0.23136	.	.	ENSG00000131759	ENST00000319149	.	.	.	5.24	0.475	0.16774	.	1.324360	0.05783	N	0.608960	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50600	-0.8809	6	0.72032	D	0.01	.	1.303	0.02083	0.217:0.2236:0.3994:0.1599	.	.	.	.	L	449	.	ENSP00000316769:R449L	R	+	2	0	RARA	35765986	0.183000	0.23186	0.998000	0.56505	0.986000	0.74619	-0.636000	0.05465	-0.058000	0.13177	0.561000	0.74099	CGG		0.731	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			T	38512460	G	T	38512460	2	4	43	1	0	0	0	0	0	0	0	1	13052	1103	39	5		5	RARA	17	38512460	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	167245	38512460	42682750	841	4018											
TMEM99	147184	hgsc.bcm.edu;bcgsc.ca	37	chr17	38990812	38990812	+	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	ttgctccggctgtgtcccctCgctctgttgttccagctatg	2	15	10	14	2	1	0	0	0	1	0	5	0	4	0	4	1	2	6	4	1	1	4	rs189743949		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38990812C>T	ENST00000301665.3	+	3	348	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	15						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TGTGTCCCCTCGCTCTGTTGT	0.552													C|||	1	0.000199681	0	0	5008	,	,		17027	0		0.001	False		,,,				2504	0					.											0								C	LEU/SER,LEU/SER,LEU/SER	1,4215		0,1,2107	113	109	111		44,44,44	-0.3	0	17		111	2,8456		0,2,4227	yes	missense,missense,missense	TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1	145,145,145	0,3,6334	TT,TC,CC		0.0236,0.0237,0.0237	,,	15/259,15/259,15/259	38990812	3,12671	2108	4229	6337	SO:0001583	missense	147184			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.44C>T	17.37:g.38990812C>T	ENSP00000301665:p.Ser15Leu		B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	CCDS42319.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.059	-1.229268	0.01518	2.37E-4	2.36E-4	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.131	-0.261	0.12963	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	6	0.87932	D	0	.	.	.	.	.	15	Q8N816	TMM99_HUMAN	L	15	ENSP00000390036:S15L;ENSP00000301665:S15L	ENSP00000301665:S15L	S	+	2	0	TMEM99	36244338	0.010000	0.17322	0.011000	0.14972	0.011000	0.07611	-1.070000	0.03440	-1.420000	0.02009	-1.450000	0.01041	TCG		0.552	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		T	38990812	C	T	38990812	3	4	43	1	0	0	0	0	1	0	0	0	16223	893	31	1	46	1	TMEM99	17	38990812	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	478352	38990812	42204398	842	4019											
KRTAP9-9	81870	broad.mit.edu;mdanderson.org	37	chr17	39411913	39411913	+	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	tgtgggtccagctgctgtggCcaaaccagctgtgggtccag	6	9	15	11	0	0	0	0	0	0	0	2	0	2	0	4	3	4	3	4	3	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39411913C>T	ENST00000394008.1	+	1	278	c.276C>T	c.(274-276)ggC>ggT	p.G92G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	77	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)			GCTGCTGTGGCCAAACCAGCT	0.627																																						.											0													60	62	62					17																	39411913		2203	4299	6502	SO:0001819	synonymous_variant	81870			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.276C>T	17.37:g.39411913C>T			B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	CCDS54127.1																																																																																				0.627	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		T	39411913	C	T	39411913	2	4	43	1	0	0	0	0	0	0	0	1	8577	726	26	3		3	KRTAP9-9	17	39411913	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	421101	39411913	41783297	843	4020											
KRT15	3866	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr17	39673348	39673348	+	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	agcgcacttgagcctgaagtCgtccgcagccagcctggcat	8	7	12	14	3	0	2	0	2	0	0	2	2	1	2	4	1	4	3	4	1	1	1	rs147023381		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39673348C>T	ENST00000254043.3	-	2	4153	c.568G>A	c.(568-570)Gac>Aac	p.D190N	KRT15_ENST00000393976.2_Missense_Mutation_p.D190N|KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393981.3_Intron	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	190	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)				AGCCTGAAGTCGTCCGCAGCC	0.597																																						.											0								C	ASN/ASP	0,4406		0,0,2203	177	167	171		568	3.9	1	17	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT15	NM_002275.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	190/457	39673348	1,13005	2203	4300	6503	SO:0001583	missense	3866				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.568G>A	17.37:g.39673348C>T	ENSP00000254043:p.Asp190Asn		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728445	0.89390	0.0	1.16E-4	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.89746	-2.56;-2.56	4.86	3.87	0.44632	Filament (1);	0.000000	0.52532	D	0.000076	D	0.95300	0.8475	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95861	0.8883	10	0.87932	D	0	.	13.692	0.62550	0.0:0.9238:0.0:0.0762	.	190	P19012	K1C15_HUMAN	N	190	ENSP00000254043:D190N;ENSP00000377546:D190N	ENSP00000254043:D190N	D	-	1	0	KRT15	36926874	0.996000	0.38824	0.962000	0.40283	0.692000	0.40212	5.074000	0.64401	2.525000	0.85131	0.655000	0.94253	GAC		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		T	39673348	C	T	39673348	3	4	43	1	0	0	0	0	1	0	0	0	8452	884	31	1	830	1	KRT15	17	39673348	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	261435	39673348	41521862	844	4021											
KIF18B	146909	broad.mit.edu;mdanderson.org	37	chr17	43004364	43004364	+	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	tcccaaacctcacctcgcaaCgcgcttcttcttgcaggcag	8	9	7	17	3	3	0	1	0	2	0	5	0	4	0	3	1	3	4	3	1	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:43004364C>T	ENST00000593135.1	-	14	2456	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	KIF18B_ENST00000438933.2_Missense_Mutation_p.V799I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V790I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V808I|KIF18B_ENST00000587309.1_Missense_Mutation_p.V799I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	799					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)	p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637																																						.											1	Substitution - Missense(1)	large_intestine(1)											33	36	35					17																	43004364		2033	4203	6236	SO:0001583	missense	146909				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.2359G>A	17.37:g.43004364C>T	ENSP00000465992:p.Val787Ile		A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722392	0.15439	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.66;-0.67	4.94	-9.87	0.00470	.	.	.	.	.	T	0.44117	0.1278	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.29579	-1.0007	9	0.36615	T	0.2	.	4.9781	0.14151	0.0807:0.4484:0.343:0.1279	.	799;796;808	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	799;790;799	ENSP00000412798:V799I;ENSP00000341466:V790I	ENSP00000341466:V790I	V	-	1	0	KIF18B	40359890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.657000	0.00202	-3.230000	0.00209	-1.004000	0.02495	GTT		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		T	43004364	C	T	43004364	3	4	43	1	0	0	0	0	1	0	0	0	8281	536	19	1	210	1	KIF18B	17	43004364	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3331016	43004364	38190846	845	4022											
NOG	9241	broad.mit.edu;bcgsc.ca	37	chr17	54672235	54672235	+	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	gggggccagcgctgcggctgGattcccatccagtaccccat	6	7	13	15	2	0	0	0	0	0	0	2	1	2	1	5	4	3	3	5	4	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:54672235G>A	ENST00000332822.4	+	1	1176	c.651G>A	c.(649-651)tgG>tgA	p.W217*		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	217			W -> G (in SYNS1). {ECO:0000269|PubMed:10080184}.		axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					GCTGCGGCTGGATTCCCATCC	0.682																																						.											0													15	16	16					17																	54672235		2198	4288	6486	SO:0001587	stop_gained	9241			U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"synostoses (multiple) syndrome 1", "symphalangism 1 (proximal)"	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.651G>A	17.37:g.54672235G>A	ENSP00000328181:p.Trp217*			Nonsense_Mutation	SNP	ENST00000332822.4	37	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	G	41	8.622229	0.98888	.	.	ENSG00000183691	ENST00000332822	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4384	17.712	0.88324	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000328181:W217X	W	+	3	0	NOG	52027234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.550000	0.98110	2.418000	0.82041	0.561000	0.74099	TGG		0.682	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1	NM_005450		A	54672235	G	A	54672235	4	1	43	1	0	0	0	0	0	1	0	0	10519	1183	41	3	653	3	NOG	17	54672235	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	11667871	54672235	26522975	846	4023											
TRIM25	7706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	54985879	54985879	+	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	atccagtgctctcgacgcccCgttgatctgactgtacatga	8	11	9	13	3	2	3	0	3	2	0	4	4	3	3	3	0	2	3	3	0	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:54985879C>T	ENST00000316881.4	-	2	692	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	TRIM25_ENST00000537230.1_Missense_Mutation_p.G215R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	215	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTCGACGCCCCGTTGATCTGA	0.582																																						.											0													149	107	121					17																	54985879		2203	4300	6503	SO:0001583	missense	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.643G>A	17.37:g.54985879C>T	ENSP00000323889:p.Gly215Arg			Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050020	0.19827	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.41065	1.01;1.01	4.38	4.38	0.52667	.	0.208574	0.33753	N	0.004600	T	0.29588	0.0738	L	0.41356	1.27	0.30299	N	0.789598	B	0.32829	0.386	B	0.20184	0.028	T	0.20009	-1.0288	10	0.27082	T	0.32	.	12.7546	0.57328	0.0:1.0:0.0:0.0	.	215	Q14258	TRI25_HUMAN	R	215	ENSP00000323889:G215R;ENSP00000445961:G215R	ENSP00000323889:G215R	G	-	1	0	TRIM25	52340878	0.146000	0.22672	0.563000	0.28383	0.539000	0.34962	2.313000	0.43735	2.706000	0.92434	0.655000	0.94253	GGG		0.582	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		T	54985879	C	T	54985879	3	4	43	1	0	0	0	0	1	0	0	0	16496	652	23	1	1281	1	TRIM25	17	54985879	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	313644	54985879	26209331	847	4024											
OR4D2	124538	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	56247381	56247381	+	Missense_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	ctcagtgatggcctttgaccGcctcattgccatctcccggc	5	11	9	16	2	3	2	2	2	1	0	4	2	3	2	5	2	1	0	5	2	0	2	rs142058863	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56247381G>A	ENST00000545221.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCCTTTGACCGCCTCATTGCC	0.562																																						.											1	Substitution - Missense(1)	stomach(1)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83	81	81		365	3.7	0.6	17	dbSNP_134	81	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR4D2	NM_001004707.3	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	122/308	56247381	4,13002	2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.365G>A	17.37:g.56247381G>A	ENSP00000441354:p.Arg122His		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592236	0.28357	2.27E-4	3.49E-4	ENSG00000255713	ENST00000545221	T	0.77489	-1.1	5.71	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.76040	0.3932	M	0.86178	2.8	0.36718	D	0.881022	P	0.35684	0.515	B	0.27715	0.082	T	0.80400	-0.1398	10	0.87932	D	0	-26.1465	10.7946	0.46453	0.1547:0.0:0.8453:0.0	.	122	P58180	OR4D2_HUMAN	H	122	ENSP00000441354:R122H	ENSP00000441354:R122H	R	+	2	0	OR4D2	53602380	1.000000	0.71417	0.567000	0.28434	0.094000	0.18550	7.976000	0.88070	0.899000	0.36444	-0.166000	0.13349	CGC		0.562	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			A	56247381	G	A	56247381	3	1	43	1	0	0	0	0	1	0	0	0	11056	1087	38	1	367	1	OR4D2	17	56247381	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1261502	56247381	24947829	848	4025											
OR4D2	124538	broad.mit.edu;bcgsc.ca	37	chr17	56247407	56247407	+	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	ttgccatctcccggcccctcCgctatgtcaccgtcatgaac	6	10	7	18	3	3	1	2	1	1	0	5	1	4	1	6	1	2	1	6	1	2	2	rs370339516		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56247407C>T	ENST00000545221.1	+	1	391	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	131						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(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCGGCCCCTCCGCTATGTCAC	0.567																																						.											0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	84	84	84		391	5.7	1	17		84	0,8600		0,0,4300	no	missense	OR4D2	NM_001004707.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	131/308	56247407	2,13004	2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.391C>T	17.37:g.56247407C>T	ENSP00000441354:p.Arg131Cys		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810088	0.90707	4.54E-4	0.0	ENSG00000255713	ENST00000545221	T	0.00922	5.54	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.03053	0.0090	L	0.59436	1.845	0.43787	D	0.996324	D	0.65815	0.995	P	0.52343	0.696	T	0.50056	-0.8872	10	0.87932	D	0	-22.3682	17.7075	0.88312	0.0:1.0:0.0:0.0	.	131	P58180	OR4D2_HUMAN	C	131	ENSP00000441354:R131C	ENSP00000441354:R131C	R	+	1	0	OR4D2	53602406	0.086000	0.21541	1.000000	0.80357	0.944000	0.59088	3.329000	0.52060	2.860000	0.98153	0.609000	0.83330	CGC		0.567	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			T	56247407	C	T	56247407	3	4	43	1	0	0	0	0	1	0	0	0	11056	652	23	1	393	1	OR4D2	17	56247407	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	26	56247407	24947803	849	4026											
MKS1	54903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	56290442	56290442	+	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	agctcctgcttctccccctcCgtctcaatcctgtaaggtca	6	12	6	17	1	3	0	2	0	2	0	8	0	6	0	5	1	2	3	5	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56290442C>T	ENST00000393119.2	-	8	833	c.759G>A	c.(757-759)acG>acA	p.T253T	MKS1_ENST00000337050.7_Silent_p.T253T|MKS1_ENST00000313863.6_Silent_p.T253T|MKS1_ENST00000546108.1_Silent_p.T50T|MKS1_ENST00000537529.2_Silent_p.T243T	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	253					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						TCTCCCCCTCCGTCTCAATCC	0.562																																						.											0													70	72	71					17																	56290442		1937	4138	6075	SO:0001819	synonymous_variant	54903			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.759G>A	17.37:g.56290442C>T			B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	1.361	-0.588849	0.03799	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38672	-0.9650	4	.	.	.	-24.1711	1.1885	0.01860	0.2967:0.3287:0.1524:0.2222	.	.	.	.	Q	254	.	.	R	-	2	0	MKS1	53645441	0.000000	0.05858	0.404000	0.26397	0.178000	0.23041	-2.189000	0.01248	-2.371000	0.00602	-0.311000	0.09066	CGG		0.562	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		T	56290442	C	T	56290442	2	4	43	1	0	0	0	0	0	0	0	1	9609	639	23	1		1	MKS1	17	56290442	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	43035	56290442	24904768	850	4027											
SEPT4	5414	ucsc.edu;bcgsc.ca	37	chr17	56599003	56599003	+	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	caaaatgctcaatctcctccCggatctgacaaacagatgag	14	8	7	12	1	3	3	1	2	2	1	5	4	4	4	2	1	2	1	2	1	4	0	rs533106066		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56599003C>T	ENST00000317268.3	-	8	1096	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	SEPT4_ENST00000412945.3_Missense_Mutation_p.R299Q|SEPT4_ENST00000580844.1_Missense_Mutation_p.R208Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R288Q|SEPT4_ENST00000457347.2_Missense_Mutation_p.R322Q|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000579371.1_Missense_Mutation_p.R208Q|SEPT4_ENST00000583114.1_Missense_Mutation_p.R160Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R288Q|SEPT4_ENST00000426861.1_3'UTR	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	307	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATCTCCTCCCGGATCTGACA	0.512													C|||	1	0.000199681	8e-04	0	5008	,	,		19676	0		0	False		,,,				2504	0					.											0													111	107	108					17																	56599003		2203	4300	6503	SO:0001583	missense	5414			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.920G>A	17.37:g.56599003C>T	ENSP00000321674:p.Arg307Gln		B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945750	0.34377	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.59	5.59	0.84812	.	0.061554	0.64402	D	0.000005	T	0.53351	0.1791	L	0.46567	1.45	0.54753	D	0.999987	P;D;P;P;P	0.89917	0.882;1.0;0.941;0.497;0.952	B;D;B;B;P	0.67382	0.212;0.951;0.358;0.118;0.49	T	0.52238	-0.8602	10	0.62326	D	0.03	.	17.0726	0.86578	0.0:1.0:0.0:0.0	.	299;322;288;160;307	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	Q	299;321;288;307;288	ENSP00000414779:R299Q;ENSP00000321071:R288Q;ENSP00000321674:R307Q;ENSP00000376801:R288Q	ENSP00000321071:R288Q	R	-	2	0	SEPT4	53954002	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.077000	0.71275	2.619000	0.88677	0.557000	0.71058	CGG		0.512	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		T	56599003	C	T	56599003	3	4	43	1	0	0	0	0	1	0	0	0	14066	652	23	1	536	1	SEPT4	17	56599003	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	308561	56599003	24596207	851	4028											
BCAS3	54828	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr17	59445725	59445725	+	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	gtgaccctgctggaggtgtgCgggagctggcctgagggctt	4	9	19	9	1	0	2	0	2	0	0	0	4	0	4	2	5	3	3	2	5	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:59445725C>T	ENST00000390652.5	+	24	2539	c.2508C>T	c.(2506-2508)tgC>tgT	p.C836C	BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Silent_p.C821C|BCAS3_ENST00000588874.1_Silent_p.C592C|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000408905.3_Silent_p.C821C|BCAS3_ENST00000585744.1_Silent_p.C607C|BCAS3_ENST00000588462.1_Silent_p.C836C|BCAS3_ENST00000589222.1_Silent_p.C821C	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)			TGGAGGTGTGCGGGAGCTGGC	0.642																																						.											0													78	89	85					17																	59445725		2139	4247	6386	SO:0001819	synonymous_variant	54828			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.2508C>T	17.37:g.59445725C>T				Silent	SNP	ENST00000390652.5	37	CCDS45749.1																																																																																				0.642	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		T	59445725	C	T	59445725	2	4	43	1	0	0	0	0	0	0	0	1	1352	776	27	1		1	BCAS3	17	59445725	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2846722	59445725	21749485	852	4029											
TANC2	26115	broad.mit.edu	37	chr17	61497780	61497780	+	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	tctgtaggctctcccactagAcagacctatcagtccacctc	9	10	6	16	0	3	2	1	0	2	2	6	2	4	2	4	1	0	2	4	1	3	3	rs200208895		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:61497780A>G	ENST00000424789.2	+	25	4441	c.4437A>G	c.(4435-4437)agA>agG	p.R1479R	TANC2_ENST00000389520.4_Silent_p.R1489R|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1479					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						CTCCCACTAGACAGACCTATC	0.552																																						.											0								A		0,4060		0,0,2030	105	105	105		4437	-1.6	1	17		105	2,8370		0,2,4184	no	coding-synonymous	TANC2	NM_025185.3		0,2,6214	GG,GA,AA		0.0239,0.0,0.0161		1479/1991	61497780	2,12430	2030	4186	6216	SO:0001819	synonymous_variant	26115			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.4437A>G	17.37:g.61497780A>G			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	CCDS45754.1																																																																																				0.552	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			G	61497780	A	G	61497780	2	3	43	1	0	0	0	0	0	0	0	1	15542	272	10	2		2	TANC2	17	61497780	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2052055	61497780	19697430	853	4030											
TEX2	55852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	62291323	62291323	+	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	ggcgaggcagcagggccggcGgggtcatggccaacttgggg	6	4	21	10	3	1	0	1	0	0	0	1	1	1	0	2	9	2	2	2	9	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:62291323G>A	ENST00000583097.1	-	2	427	c.255C>T	c.(253-255)ccC>ccT	p.P85P	TEX2_ENST00000584379.1_Silent_p.P85P|TEX2_ENST00000258991.3_Silent_p.P85P			Q8IWB9	TEX2_HUMAN	testis expressed 2	85					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGGGCCGGCGGGGTCATGGC	0.577																																						.											0													144	144	144					17																	62291323		2203	4300	6503	SO:0001819	synonymous_variant	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.255C>T	17.37:g.62291323G>A			Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																					0.577	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		A	62291323	G	A	62291323	2	1	43	1	0	0	0	0	0	0	0	1	15778	1103	39	1		1	TEX2	17	62291323	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	793543	62291323	18903887	854	4031											
HELZ	9931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	65134098	65134098	+	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	atcagataatctcttttttcGaagttcagcacgtattctaa	12	16	5	8	2	4	1	2	0	2	1	6	2	4	1	0	0	1	3	0	0	4	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:65134098G>A	ENST00000358691.5	-	22	3068	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R969*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	968						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)					CTCTTTTTTCGAAGTTCAGCA	0.378																																						.											0													202	205	204					17																	65134098		2079	4211	6290	SO:0001587	stop_gained	9931			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.2902C>T	17.37:g.65134098G>A	ENSP00000351524:p.Arg968*		I6L9H4	Nonsense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	43	9.825446	0.99273	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5631	18.8583	0.92262	0.0:0.0:1.0:0.0	.	.	.	.	X	968	.	ENSP00000351524:R968X	R	-	1	2	HELZ	62564560	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.476000	0.97823	2.437000	0.82529	0.655000	0.94253	CGA		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		A	65134098	G	A	65134098	4	1	43	1	0	0	0	0	0	1	0	0	7049	1066	37	1	2974	1	HELZ	17	65134098	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2842775	65134098	16061112	855	4032											
KIF19	124602	mdanderson.org	37	chr17	72350412	72350412	+	Missense_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	gctggcacccgcgacagagcGcagcagcctgtccctgcact	7	5	12	17	3	0	1	0	0	0	1	1	2	1	1	3	1	4	5	3	1	0	0	rs2271535	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:72350412G>A	ENST00000389916.4	+	18	2558	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	807			R -> H (in dbSNP:rs2271535).		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						GCGACAGAGCGCAGCAGCCTG	0.711													G|||	1718	0.343051	0.0756	0.4207	5008	,	,		13893	0.4008		0.4712	False		,,,				2504	0.4581					.											0								G	HIS/ARG	571,3475		68,435,1520	16	22	20		2420	1.8	1	17	dbSNP_100	20	3907,4455		949,2009,1223	yes	missense	KIF19	NM_153209.3	29	1017,2444,2743	AA,AG,GG		46.7233,14.1127,36.0896	possibly-damaging	807/999	72350412	4478,7930	2023	4181	6204	SO:0001583	missense	124602			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.2420G>A	17.37:g.72350412G>A	ENSP00000374566:p.Arg807His		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	790	0.3617216117216117	40	0.08130081300813008	149	0.4116022099447514	242	0.4230769230769231	359	0.4736147757255937	G	12.77	2.036734	0.35893	0.141127	0.467233	ENSG00000196169	ENST00000389916	T	0.71817	-0.6	5.06	1.78	0.24846	.	.	.	.	.	T	0.00012	0.0000	L	0.54323	1.7	0.41050	P	0.014703000000000022	B	0.13594	0.008	B	0.06405	0.002	T	0.38351	-0.9665	8	0.37606	T	0.19	.	6.784	0.23664	0.2165:0.2365:0.547:0.0	rs2271535;rs58995647	807	Q2TAC6	KIF19_HUMAN	H	807	ENSP00000374566:R807H	ENSP00000374566:R807H	R	+	2	0	KIF19	69862007	1.000000	0.71417	0.967000	0.41034	0.417000	0.31264	1.286000	0.33273	1.141000	0.42275	0.556000	0.70494	CGC		0.711	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72350412	G	A	72350412	3	1	43	1	0	0	0	0	1	0	0	0	8282	1087	38	1	2490	1	KIF19	17	72350412	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7216314	72350412	8844798	856	4033											
RECQL5	9400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	73626346	73626346	+	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	ccagctccacggccttggccCggaggtcagctctgtgggtg	4	8	15	14	2	2	0	1	0	1	0	3	1	3	1	4	5	2	2	4	5	0	1	rs199975622		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:73626346C>T	ENST00000317905.5	-	14	1889	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	RECQL5_ENST00000423245.2_Missense_Mutation_p.R550Q|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	577	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCCTTGGCCCGGAGGTCAGC	0.632								Other identified genes with known or suspected DNA repair function					C|||	1	0.000199681	8e-04	0	5008	,	,		20052	0		0	False		,,,				2504	0					.											0								C	GLN/ARG	1,4217		0,1,2108	37	39	38		1730	-0.9	0.3	17		38	3,8465		0,3,4231	yes	missense	RECQL5	NM_004259.6	43	0,4,6339	TT,TC,CC		0.0354,0.0237,0.0315	benign	577/992	73626346	4,12682	2109	4234	6343	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1730G>A	17.37:g.73626346C>T	ENSP00000317636:p.Arg577Gln		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474567	0.26511	2.37E-4	3.54E-4	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.54866	0.55	5.39	-0.855	0.10700	.	0.552264	0.18297	N	0.145543	T	0.11580	0.0282	N	0.00246	-1.78	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.27640	-1.0068	10	0.15499	T	0.54	-0.663	1.7148	0.02899	0.1404:0.319:0.1278:0.4129	.	577;550	O94762;Q6P4G0	RECQ5_HUMAN;.	Q	172;577;577	ENSP00000317636:R577Q	ENSP00000317636:R577Q	R	-	2	0	RECQL5	71137941	0.002000	0.14202	0.343000	0.25615	0.582000	0.36321	-0.443000	0.06862	-0.506000	0.06558	-0.302000	0.09304	CGG		0.632	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		T	73626346	C	T	73626346	3	4	43	1	0	0	0	0	1	0	0	0	13203	652	23	1	1273	1	RECQL5	17	73626346	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1275934	73626346	7568864	857	4034											
RNF157	114804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	74157965	74157965	+	Missense_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	tgttggcctggtagcgcagcGtgtctgcacaggtgttacag	6	11	15	9	2	1	0	0	0	1	0	1	0	1	0	1	3	4	5	1	3	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:74157965G>A	ENST00000269391.6	-	10	1043	c.911C>T	c.(910-912)aCg>aTg	p.T304M	RNF157_ENST00000319945.6_Missense_Mutation_p.T304M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	304							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGCGCAGCGTGTCTGCACA	0.602																																					GBM(186;507 2120 27388 27773 52994)	.											0													132	117	122					17																	74157965		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.911C>T	17.37:g.74157965G>A	ENSP00000269391:p.Thr304Met		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168123	0.94768	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.67345	-0.26;-0.26	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	L	0.28274	0.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.985	T	0.77313	-0.2634	10	0.72032	D	0.01	-33.4353	19.3674	0.94469	0.0:0.0:1.0:0.0	.	304;304	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	304;304;266	ENSP00000269391:T304M;ENSP00000321837:T304M	ENSP00000269391:T304M	T	-	2	0	RNF157	71669560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.577000	0.86979	0.655000	0.94253	ACG		0.602	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		A	74157965	G	A	74157965	3	1	43	1	0	0	0	0	1	0	0	0	13454	1145	40	1	1168	1	RNF157	17	74157965	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	531619	74157965	7037245	858	4035											
MGAT5B	146664	broad.mit.edu;bcgsc.ca	37	chr17	74901299	74901299	+	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	ttctggacctgatgggcagcGggaaggagtccctgatcttc	7	10	14	10	1	2	2	0	2	2	0	4	5	3	5	2	4	1	1	2	4	1	2	rs199861646		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:74901299G>A	ENST00000569840.2	+	7	1313	c.739G>A	c.(739-741)Ggg>Agg	p.G247R	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G258R|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G247R	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	247					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						GATGGGCAGCGGGAAGGAGTC	0.637																																						.											0													40	44	42					17																	74901299		2203	4300	6503	SO:0001583	missense	146664			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.739G>A	17.37:g.74901299G>A	ENSP00000456037:p.Gly247Arg		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732689	0.69189	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.44083	0.94;0.93	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.53774	-0.8391	10	0.12430	T	0.62	-47.5883	17.7669	0.88481	0.0:0.0:1.0:0.0	.	258;247	Q3V5L5-2;Q3V5L5-5	.;.	R	247;247;258	ENSP00000301618:G247R;ENSP00000391227:G258R	ENSP00000301618:G247R	G	+	1	0	MGAT5B	72412894	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	8.893000	0.92498	2.416000	0.81992	0.514000	0.50259	GGG		0.637	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		A	74901299	G	A	74901299	3	1	43	1	0	0	0	0	1	0	0	0	9549	1116	39	1	866	1	MGAT5B	17	74901299	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	743334	74901299	6293911	859	4036											
SEPT9	10801	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr17	75471796	75471796	+	Intron	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	gatggaggcaaggaagtcttCgccggggcaagggcaccagc	10	4	17	10	2	1	0	0	0	1	0	2	3	1	2	2	6	1	3	2	6	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:75471796C>T	ENST00000427177.1	+	4	847				SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592420.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000427180.1_Missense_Mutation_p.R66C	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGGAAGTCTTCGCCGGGGCAA	0.652																																						.											0													39	41	41					17																	75471796		1568	3582	5150	SO:0001627	intron_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6430C>T	17.37:g.75471796C>T			A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866491	0.17250	.	.	ENSG00000184640	ENST00000427180	T	0.54675	0.56	1.35	-0.966	0.10320	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.30179	-0.9987	8	0.72032	D	0.01	.	2.6267	0.04931	0.0:0.4635:0.3143:0.2222	.	66	Q9UHD8-8	.	C	66	ENSP00000415624:R66C	ENSP00000415624:R66C	R	+	1	0	SEPT9	72983391	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.942000	0.03921	-0.256000	0.09473	0.297000	0.19635	CGC		0.652	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		T	75471796	C	T	75471796	1	4	43	0	1	0	0	0	0	0	0	0	14071	884	31	1		1	SEPT9	17	75471796	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	570497	75471796	5723414	860	4037											
TNRC6C	57690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	76071339	76071339	+	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	ccaaagagtcttccgtggacCgccccacctttcttgacaag	9	9	8	15	2	2	2	0	1	2	1	3	3	3	3	6	1	0	0	6	1	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:76071339C>T	ENST00000588061.1	+	10	3767	c.3040C>T	c.(3040-3042)Cgc>Tgc	p.R1014C	TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1011C|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1014C|TNRC6C_ENST00000335749.4_Missense_Mutation_p.R1011C|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1014C|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1011C			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1014					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)			TTCCGTGGACCGCCCCACCTT	0.507																																						.											0													18	20	19					17																	76071339		1866	4088	5954	SO:0001583	missense	57690			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.3040C>T	17.37:g.76071339C>T	ENSP00000468647:p.Arg1014Cys		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875961	0.91664	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.17691	2.27;2.26;2.26;2.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	T	0.03184	-1.1063	10	0.54805	T	0.06	-13.682	20.1707	0.98158	0.0:1.0:0.0:0.0	.	1011;1014;1014	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	C	1014;1011;1011;1014;1014;1011	ENSP00000336783:R1011C;ENSP00000301624:R1014C;ENSP00000440310:R1014C;ENSP00000442421:R1011C	ENSP00000301624:R1014C	R	+	1	0	TNRC6C	73582934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.226000	0.65299	2.773000	0.95371	0.655000	0.94253	CGC		0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		T	76071339	C	T	76071339	3	4	43	1	0	0	0	0	1	0	0	0	16339	652	23	1	3062	1	TNRC6C	17	76071339	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	599543	76071339	5123871	861	4038											
RNF213	57674	hgsc.bcm.edu;mdanderson.org	37	chr17	78318717	78318717	+	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	ggctctgtcgaaggcaccccGgaggaatgcctccagcattt	8	8	12	13	2	1	0	0	0	1	0	3	3	2	2	4	4	2	3	4	4	2	1	rs140158248	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:78318717G>A	ENST00000582970.1	+	29	6725	c.6582G>A	c.(6580-6582)ccG>ccA	p.P2194P	RNF213_ENST00000508628.2_Silent_p.P2243P|RNF213_ENST00000336301.6_Silent_p.P267P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2194					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)			AAGGCACCCCGGAGGAATGCC	0.473													G|||	11	0.00219649	0.0076	0	5008	,	,		21249	0.001		0	False		,,,				2504	0					.											0								G		28,4378	34.3+/-65.2	0,28,2175	93	94	94		6729	-11.1	0	17	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	RNF213	NM_020914.4		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		2243/5257	78318717	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	57674			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.6582G>A	17.37:g.78318717G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78318717	G	A	78318717	2	1	43	1	0	0	0	0	0	0	0	1	13477	1103	39	1		1	RNF213	17	78318717	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2247378	78318717	2876493	862	4039											
RNF213	57674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	78320904	78320904	+	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	atctgctcctcagacatcctCgtccaggaccgagtccaagg	9	8	9	15	2	2	1	1	0	1	1	7	3	6	2	5	2	1	1	5	2	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:78320904C>T	ENST00000582970.1	+	29	8912	c.8769C>T	c.(8767-8769)ctC>ctT	p.L2923L	RNF213_ENST00000508628.2_Silent_p.L2972L|RNF213_ENST00000336301.6_Silent_p.L996L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2923					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)			CAGACATCCTCGTCCAGGACC	0.557																																						.											0													60	53	55					17																	78320904		2203	4300	6503	SO:0001819	synonymous_variant	57674			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.8769C>T	17.37:g.78320904C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.557	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78320904	C	T	78320904	2	4	43	1	0	0	0	0	0	0	0	1	13477	871	31	1		1	RNF213	17	78320904	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2187	78320904	2874306	863	4040											
C17orf56	146705	broad.mit.edu;mdanderson.org	37	chr17	79203107	79203107	+	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	agggagcagggctccgggacGagaccggggttgaactcaga	10	4	18	9	3	1	3	1	1	0	2	2	6	2	5	2	5	2	3	2	5	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79203107G>A	ENST00000300714.3	-	12	1256	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	ENTHD2_ENST00000374769.2_Missense_Mutation_p.S316L|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	400	Pro-rich.					cytoplasmic vesicle (GO:0031410)											GCTCCGGGACGAGACCGGGGT	0.697																																						.											0													12	10	11					17																	79203107		2186	4284	6470	SO:0001583	missense	146705			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.1199C>T	17.37:g.79203107G>A	ENSP00000300714:p.Ser400Leu		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	G	4.727	0.135111	0.09032	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.63255	-0.03;-0.03	4.31	-5.6	0.02497	.	.	.	.	.	T	0.33030	0.0849	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.39563	-0.9608	9	0.02654	T	1	2.2347	6.7078	0.23260	0.6036:0.0:0.2796:0.1168	.	400;316	Q96N21;Q96N21-2	CQ056_HUMAN;.	L	400;316	ENSP00000300714:S400L;ENSP00000363901:S316L	ENSP00000300714:S400L	S	-	2	0	C17orf56	76817702	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.483000	0.06536	-1.170000	0.02769	-0.373000	0.07131	TCG		0.697	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		A	79203107	G	A	79203107	3	1	43	1	0	0	0	0	1	0	0	0	1864	1059	37	1	382	1	C17orf56	17	79203107	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	882203	79203107	1992103	864	4041											
SLC38A10	124565	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	79226231	79226231	+	Missense_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	gatcttcaggaagatcacccGcctcctccaaggcctgggcc	8	7	10	16	1	3	1	2	0	1	1	5	3	5	2	6	3	0	0	6	3	2	1	rs376751634		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79226231G>A	ENST00000374759.3	-	13	2092	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A570V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	570					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)			AAGATCACCCGCCTCCTCCAA	0.622																																						.											0									VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	47	53	51		1709,1709	-4.2	0	17		51	0,8600		0,0,4300	no	missense,missense	SLC38A10	NM_001037984.1,NM_138570.2	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	570/1120,570/781	79226231	1,13005	2203	4300	6503	SO:0001583	missense	124565			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.1709C>T	17.37:g.79226231G>A	ENSP00000363891:p.Ala570Val		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	4.717	0.133407	0.09032	2.27E-4	0.0	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.09630	3.21;2.96	3.57	-4.19	0.03835	.	1376.610000	0.00166	N	0.000000	T	0.06325	0.0163	N	0.11255	0.115	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.34725	-0.9817	10	0.22109	T	0.4	-0.1859	10.2033	0.43099	0.5972:0.0:0.4028:0.0	.	570;570	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	V	570	ENSP00000363891:A570V;ENSP00000288439:A570V	ENSP00000288439:A570V	A	-	2	0	SLC38A10	76840826	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.578000	0.05841	-0.783000	0.04534	-0.760000	0.03462	GCG		0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		A	79226231	G	A	79226231	3	1	43	1	0	0	0	0	1	0	0	0	14602	1087	38	1	1944	1	SLC38A10	17	79226231	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	23124	79226231	1968979	865	4042											
C17orf70	80233	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr17	79512906	79512906	+	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	ggtggcacagcacaggggcaCgcctggaggggaggcatcag	9	3	19	10	1	1	0	1	0	0	0	1	2	1	2	1	8	1	4	1	8	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79512906C>T	ENST00000327787.8	-	6	2222	c.2176G>A	c.(2176-2178)Gtg>Atg	p.V726M	C17orf70_ENST00000537152.1_Missense_Mutation_p.V575M|C17orf70_ENST00000425898.2_Missense_Mutation_p.V375M			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	726					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)			CACAGGGGCACGCCTGGAGGG	0.642																																						.											0													39	31	34					17																	79512906		2199	4300	6499	SO:0001583	missense	80233			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.2176G>A	17.37:g.79512906C>T	ENSP00000333283:p.Val726Met		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930341	0.52866	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.35421	1.31;1.31;1.31	4.41	-1.67	0.08238	.	1.397600	0.05224	N	0.509143	T	0.32010	0.0815	L	0.44542	1.39	0.09310	N	1	D;D	0.57571	0.98;0.98	B;P	0.48598	0.407;0.583	T	0.19877	-1.0292	10	0.39692	T	0.17	-4.1034	1.4826	0.02440	0.1482:0.4547:0.136:0.2612	.	726;375	Q0VG06;E7EVV8	FP100_HUMAN;.	M	726;375;99;575	ENSP00000333283:V726M;ENSP00000399674:V375M;ENSP00000440151:V575M	ENSP00000333283:V726M	V	-	1	0	C17orf70	77123359	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.558000	0.05978	-0.283000	0.09115	-0.304000	0.09214	GTG		0.642	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		T	79512906	C	T	79512906	3	4	43	1	0	0	0	0	1	0	0	0	1877	536	19	1	485	1	C17orf70	17	79512906	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	286675	79512906	1682304	866	4043											
HGS	9146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	79663491	79663491	+	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	agaagcttcgccgggcagccGaggaggcagagcgccagcgc	9	2	17	13	5	0	2	0	0	0	2	1	4	0	3	3	3	4	3	3	3	1	1	rs567318549		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79663491G>A	ENST00000329138.4	+	16	1633	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	500	Interaction with NF2.|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)			CCGGGCAGCCGAGGAGGCAGA	0.687													G|||	1	0.000199681	0	0	5008	,	,		14536	0		0	False		,,,				2504	0.001					.											0													10	13	12					17																	79663491		2176	4273	6449	SO:0001583	missense	9146			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.1498G>A	17.37:g.79663491G>A	ENSP00000331201:p.Glu500Lys		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497274	0.96355	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.04706	3.57	4.42	4.42	0.53409	Hepatocyte growth factor-regulated tyrosine kinase substrate, helical domain (1);	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.00636	-1.1633	10	0.51188	T	0.08	-37.8227	16.3585	0.83245	0.0:0.0:1.0:0.0	.	500	O14964	HGS_HUMAN	K	500	ENSP00000331201:E500K	ENSP00000331201:E500K	E	+	1	0	HGS	77273896	1.000000	0.71417	0.954000	0.39281	0.992000	0.81027	9.099000	0.94207	2.164000	0.68074	0.549000	0.68633	GAG		0.687	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		A	79663491	G	A	79663491	3	1	43	1	0	0	0	0	1	0	0	0	7087	1059	37	1	1560	1	HGS	17	79663491	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	150585	79663491	1531719	867	4044											
USP14	9097	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr18	198072	198072	+	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	ctcctcatctgcatcggcagCgacaccttctaaaaagaaaa	14	8	6	13	2	3	1	1	0	2	1	5	2	4	1	2	1	2	2	2	1	5	2	rs199949125		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:198072C>T	ENST00000261601.7	+	9	792	c.701C>T	c.(700-702)gCg>gTg	p.A234V	USP14_ENST00000400266.3_Missense_Mutation_p.A223V|USP14_ENST00000582707.1_Missense_Mutation_p.A199V|USP14_ENST00000383589.2_Missense_Mutation_p.A188V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	234	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GCATCGGCAGCGACACCTTCT	0.333													C|||	1	0.000199681	0	0	5008	,	,		14356	0.001		0	False		,,,				2504	0					.											0													58	60	59					18																	198072		2203	4300	6503	SO:0001583	missense	9097			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.701C>T	18.37:g.198072C>T	ENSP00000261601:p.Ala234Val		J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	CCDS32780.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.068	0.567778	0.13560	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31247	1.5;1.5	6.17	1.12	0.20585	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.254724	0.44902	N	0.000410	T	0.13157	0.0319	N	0.19112	0.55	0.44728	D	0.997725	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.003	T	0.14559	-1.0468	10	0.09084	T	0.74	-5.7672	3.78	0.08677	0.1964:0.4519:0.0:0.3516	.	223;199;234	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	V	234;199;223	ENSP00000261601:A234V;ENSP00000383125:A223V	ENSP00000261601:A234V	A	+	2	0	USP14	188072	0.165000	0.22948	0.949000	0.38748	0.530000	0.34684	0.732000	0.26072	0.190000	0.20209	-0.302000	0.09304	GCG		0.333	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		T	198072	C	T	198072	3	4	43	1	0	0	0	0	1	0	0	0	17042	768	27	1	735	1	USP14	18	198072	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		198072	77879176	868	4045											
THOC1	9984	broad.mit.edu;mdanderson.org	37	chr18	216576	216576	+	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	gttggctggaagaagtgaggGcttctccgtgctaatagtct	8	12	14	7	1	2	2	0	1	2	1	3	3	2	3	1	3	1	4	1	3	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:216576G>A	ENST00000261600.6	-	19	1519	c.1512C>T	c.(1510-1512)agC>agT	p.S504S		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	504					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGAAGTGAGGGCTTCTCCGTG	0.393																																						.											0													151	151	151					18																	216576		1851	4094	5945	SO:0001819	synonymous_variant	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1512C>T	18.37:g.216576G>A			B2RBP6|Q15219|Q64I72|Q64I73	Silent	SNP	ENST00000261600.6	37	CCDS45820.1																																																																																				0.393	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		A	216576	G	A	216576	2	1	43	1	0	0	0	0	0	0	0	1	15861	1194	42	3		3	THOC1	18	216576	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	18504	216576	77860672	869	4046											
NDC80	10403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	2610781	2610781	+	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	ccaactagttgtgcaaaccaCgactgaagaaagacgaaaag	18	5	9	9	2	0	3	0	1	0	2	0	5	0	3	2	0	3	2	2	0	7	2	rs536241153		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:2610781C>T	ENST00000261597.4	+	16	1894	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	571	Interaction with NEK2 and ZWINT.|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						GTGCAAACCACGACTGAAGAA	0.388													C|||	1	0.000199681	0	0.0014	5008	,	,		16274	0		0	False		,,,				2504	0					.											0													188	173	178					18																	2610781		2203	4300	6503	SO:0001583	missense	10403			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.1712C>T	18.37:g.2610781C>T	ENSP00000261597:p.Thr571Met		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611199	0.28712	.	.	ENSG00000080986	ENST00000261597	T	0.50001	0.76	5.34	5.34	0.76211	.	0.045740	0.85682	D	0.000000	T	0.65821	0.2728	M	0.66939	2.045	0.53688	D	0.999977	D	0.89917	1.0	D	0.69479	0.964	T	0.61589	-0.7032	10	0.27785	T	0.31	-12.0354	17.7979	0.88578	0.0:1.0:0.0:0.0	.	571	O14777	NDC80_HUMAN	M	571	ENSP00000261597:T571M	ENSP00000261597:T571M	T	+	2	0	NDC80	2600781	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.732000	0.62029	2.500000	0.84329	0.585000	0.79938	ACG		0.388	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		T	2610781	C	T	2610781	3	4	43	1	0	0	0	0	1	0	0	0	10242	536	19	1	1770	1	NDC80	18	2610781	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2394205	2610781	75466467	870	4047											
ROCK1	6093	broad.mit.edu;mdanderson.org	37	chr18	18533573	18533573	+	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	tgtatttttgaccactttccGgaaagactgatttgcagtgg	9	15	10	7	1	0	3	0	2	0	1	1	4	1	4	2	2	1	2	2	2	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:18533573G>A	ENST00000399799.2	-	32	4967	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1343	Auto-inhibitory.				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)					ACCACTTTCCGGAAAGACTGA	0.358																																						.											0													91	101	97					18																	18533573		2201	4296	6497	SO:0001583	missense	6093				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.4027C>T	18.37:g.18533573G>A	ENSP00000382697:p.Arg1343Trp		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764115	0.31228	.	.	ENSG00000067900	ENST00000399799	T	0.72394	-0.65	4.88	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	N	0.08118	0	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.75628	-0.3252	10	0.87932	D	0	.	13.4607	0.61225	0.0:0.0:0.6287:0.3713	.	1343	Q13464	ROCK1_HUMAN	W	1343	ENSP00000382697:R1343W	ENSP00000382697:R1343W	R	-	1	2	ROCK1	16787571	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.691000	0.54720	1.024000	0.39682	0.404000	0.27445	CGG		0.358	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18533573	G	A	18533573	3	1	43	1	0	0	0	0	1	0	0	0	13517	1115	39	1	45	1	ROCK1	18	18533573	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	15922792	18533573	59543675	871	4048											
LAMA3	3909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr18	21474920	21474920	+	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	aacgacctggccaccatgggCgagcagctccgcctggtcaa	9	5	12	15	3	1	0	1	0	0	0	2	2	2	0	5	3	3	2	5	3	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:21474920C>T	ENST00000313654.9	+	44	5752	c.5511C>T	c.(5509-5511)ggC>ggT	p.G1837G	LAMA3_ENST00000269217.6_Silent_p.G228G|AC010754.1_ENST00000408462.1_RNA|LAMA3_ENST00000587184.1_Silent_p.G228G|LAMA3_ENST00000399516.3_Silent_p.G1837G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1837	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCACCATGGGCGAGCAGCTCC	0.622																																						.											0													54	46	49					18																	21474920		2203	4300	6503	SO:0001819	synonymous_variant	3909			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.5511C>T	18.37:g.21474920C>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21474920	C	T	21474920	2	4	43	1	0	0	0	0	0	0	0	1	8607	755	27	1		1	LAMA3	18	21474920	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2941347	21474920	56602328	872	4049											
DSG4	147409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	28972125	28972125	+	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	ccttgcattttagtactcagCcagtattgaagagaattgtt	11	15	8	7	0	1	2	1	1	0	1	1	3	1	2	2	0	3	4	2	0	5	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:28972125C>T	ENST00000308128.4	+	8	962	c.827C>T	c.(826-828)gCc>gTc	p.A276V	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A276V|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGTACTCAGCCAGTATTGAA	0.294																																						.											0													99	99	99					18																	28972125		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.827C>T	18.37:g.28972125C>T	ENSP00000311859:p.Ala276Val		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400614	0.42613	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.52295	0.67;0.67	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.000000	0.34603	N	0.003836	T	0.31389	0.0795	N	0.17082	0.46	0.39001	D	0.959358	B;B	0.33379	0.207;0.41	B;B	0.37091	0.219;0.241	T	0.17228	-1.0376	10	0.15499	T	0.54	.	10.5213	0.44920	0.0:0.856:0.0:0.144	.	276;276	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	276	ENSP00000311859:A276V;ENSP00000352785:A276V	ENSP00000311859:A276V	A	+	2	0	DSG4	27226123	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.728000	0.47319	2.830000	0.97506	0.655000	0.94253	GCC		0.294	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28972125	C	T	28972125	3	4	43	1	0	0	0	0	1	0	0	0	4779	739	26	3	857	3	DSG4	18	28972125	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	7497205	28972125	49105123	873	4050											
TCEB3C	162699	broad.mit.edu	37	chr18	44554924	44554924	+	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	gcggatcggattttcgtggtCactactcgcagccgctgctc	5	11	12	13	5	1	0	1	0	0	0	5	2	1	2	1	3	3	3	1	3	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44554924C>T	ENST00000330682.2	-	1	1525	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	430	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTTTCGTGGTCACTACTCGCA	0.567																																						.											0													8	8	8					18																	44554924		1152	2342	3494	SO:0001819	synonymous_variant	162699			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1290G>A	18.37:g.44554924C>T				Silent	SNP	ENST00000330682.2	37	CCDS11931.1																																																																																				0.567	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		T	44554924	C	T	44554924	2	4	43	1	0	0	0	0	0	0	0	1	15680	813	29	4		4	TCEB3C	18	44554924	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	15582799	44554924	33522324	874	4051											
TCEB3B	51224	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr18	44561229	44561229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctctgttgccccggaGgtgttctgcgtgctgtccgt	2	13	15	11	3	2	0	0	0	2	0	4	2	3	1	3	3	3	3	3	3	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44561229G>T	ENST00000332567.4	-	1	759	c.407C>A	c.(406-408)cCt>cAt	p.P136H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	136					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						TTGCCCCGGAGGTGTTCTGCG	0.632																																						.											0													56	65	62					18																	44561229		2203	4294	6497	SO:0001583	missense	51224			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.407C>A	18.37:g.44561229G>T	ENSP00000331302:p.Pro136His		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	g	5.687	0.311323	0.10789	.	.	ENSG00000206181	ENST00000332567	T	0.07021	3.23	2.74	-5.48	0.02592	.	2.324160	0.02057	N	0.050446	T	0.16599	0.0399	L	0.47716	1.5	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.40098	-0.9581	10	0.15499	T	0.54	-0.0466	6.1248	0.20174	0.3003:0.372:0.3277:0.0	.	136	Q8IYF1	ELOA2_HUMAN	H	136	ENSP00000331302:P136H	ENSP00000331302:P136H	P	-	2	0	TCEB3B	42815227	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.530000	0.02221	-2.758000	0.00371	-1.335000	0.01260	CCT		0.632	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44561229	G	T	44561229	3	4	43	1	0	0	0	0	1	0	0	0	15679	1000	35	5	1858	5	TCEB3B	18	44561229	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6305	44561229	33516019	875	4052											
ZBTB7C	201501	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr18	45567082	45567082	+	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	cttgtcatcctcctccccccCgtcccccccaggctccatga	4	9	5	23	1	1	1	1	1	0	0	6	1	6	1	9	1	0	1	9	1	0	1	rs200362895		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:45567082C>T	ENST00000588982.1	-	3	898	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	ZBTB7C_ENST00000332053.2_Missense_Mutation_p.G133R|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.G133R|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.G133R|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.G133R			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	133	Asp-rich.|Glu-rich.						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						tcctcccccccgtcccccCCA	0.582																																						.											0													141	98	112					18																	45567082		2203	4300	6503	SO:0001583	missense	201501			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.397G>A	18.37:g.45567082C>T	ENSP00000468782:p.Gly133Arg		O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334375	0.24253	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.08984	3.03;3.03	4.93	4.93	0.64822	.	0.313831	0.32987	N	0.005419	T	0.07773	0.0195	N	0.14661	0.345	0.31493	N	0.665741	P;P;D	0.58268	0.501;0.501;0.982	B;B;P	0.44732	0.122;0.098;0.459	T	0.06534	-1.0821	10	0.34782	T	0.22	.	18.1181	0.89563	0.0:1.0:0.0:0.0	.	133;133;133	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	R	133	ENSP00000439781:G133R;ENSP00000328732:G133R	ENSP00000328732:G133R	G	-	1	0	ZBTB7C	43821080	0.350000	0.24878	0.016000	0.15963	0.168000	0.22595	4.459000	0.60102	2.285000	0.76669	0.561000	0.74099	GGG		0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		T	45567082	C	T	45567082	3	4	43	1	0	0	0	0	1	0	0	0	17552	652	23	1	1470	1	ZBTB7C	18	45567082	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1005853	45567082	32510166	876	4053											
KIAA0427	9811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr18	46146071	46146071	+	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	gggctgctggctgacaagacGgagggtgatggcgagagcga	9	5	20	7	3	0	4	0	2	0	2	0	7	0	5	0	5	2	3	0	5	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:46146071G>A	ENST00000256413.3	+	2	430	c.135G>A	c.(133-135)acG>acA	p.T45T	CTIF_ENST00000382998.4_Silent_p.T45T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	45	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTGACAAGACGGAGGGTGATG	0.652																																						.											0													37	28	31					18																	46146071		2201	4299	6500	SO:0001819	synonymous_variant	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.135G>A	18.37:g.46146071G>A			B3KTR8|Q8IVD5	Silent	SNP	ENST00000256413.3	37	CCDS11935.1																																																																																				0.652	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		A	46146071	G	A	46146071	2	1	43	1	0	0	0	0	0	0	0	1	8176	1103	39	1		1	KIAA0427	18	46146071	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	578989	46146071	31931177	877	4054											
MYO5B	4645	mdanderson.org	37	chr18	47363927	47363927	+	Missense_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	ccaagagcagacgtccttccGcaagagcaggttgttaagag	12	7	12	10	2	0	4	0	0	0	4	2	4	2	4	3	1	2	5	3	1	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:47363927G>A	ENST00000285039.7	-	37	5397	c.5098C>T	c.(5098-5100)Cgg>Tgg	p.R1700W	MYO5B_ENST00000592688.1_Missense_Mutation_p.R270W|MYO5B_ENST00000324581.6_Missense_Mutation_p.R815W|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.R23W	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1700	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				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)		ACGTCCTTCCGCAAGAGCAGG	0.532																																						.											0													69	68	68					18																	47363927		2041	4196	6237	SO:0001583	missense	4645			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.5098C>T	18.37:g.47363927G>A	ENSP00000285039:p.Arg1700Trp		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921476	0.73213	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.89939	-2.59;1.88	4.77	2.84	0.33178	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	M	0.93462	3.42	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95459	0.8541	10	0.87932	D	0	.	11.3617	0.49646	0.0:0.0:0.4652:0.5348	.	1700;815	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	W	1700;815	ENSP00000285039:R1700W;ENSP00000315531:R815W	ENSP00000285039:R1700W	R	-	1	2	MYO5B	45617925	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.565000	0.36386	1.356000	0.45884	0.591000	0.81541	CGG		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			A	47363927	G	A	47363927	3	1	43	1	0	0	0	0	1	0	0	0	10079	1086	38	1	464	1	MYO5B	18	47363927	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1217856	47363927	30713321	878	4055											
WDR7	23335	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr18	54358459	54358459	+	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	ccttgcaggtgttcgatgccGgagactattccttgttgtgt	5	15	12	9	2	0	1	0	0	0	1	2	3	1	1	3	2	2	3	3	2	1	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:54358459G>A	ENST00000254442.3	+	8	941	c.730G>A	c.(730-732)Gga>Aga	p.G244R	WDR7_ENST00000357574.3_Missense_Mutation_p.G244R|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	244					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)		GTTCGATGCCGGAGACTATTC	0.398																																						.											0													123	132	129					18																	54358459		2203	4300	6503	SO:0001583	missense	23335			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.730G>A	18.37:g.54358459G>A	ENSP00000254442:p.Gly244Arg		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130878	0.94473	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.03920	3.76;3.76	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.052701	0.85682	D	0.000000	T	0.13713	0.0332	M	0.66939	2.045	0.80722	D	1	D;D	0.59767	0.986;0.968	P;B	0.51516	0.672;0.235	T	0.02026	-1.1227	10	0.30078	T	0.28	.	19.2552	0.93943	0.0:0.0:1.0:0.0	.	244;244	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	R	244	ENSP00000254442:G244R;ENSP00000350187:G244R	ENSP00000254442:G244R	G	+	1	0	WDR7	52509457	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.810000	0.86072	2.729000	0.93468	0.460000	0.39030	GGA		0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			A	54358459	G	A	54358459	3	1	43	1	0	0	0	0	1	0	0	0	17317	1117	39	1	756	1	WDR7	18	54358459	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	6994532	54358459	23718789	879	4056											
WDR7	23335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	54591323	54591323	+	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	tcgaactttgtgccgatgccGagaaacaacttgccaagtat	12	10	9	10	3	0	1	0	0	0	1	1	4	0	1	3	0	6	1	3	0	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:54591323G>A	ENST00000254442.3	+	22	3908	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	WDR7_ENST00000357574.3_Missense_Mutation_p.E1200K|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1233					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)		TGCCGATGCCGAGAAACAACT	0.428																																						.											0													184	171	176					18																	54591323		2203	4300	6503	SO:0001583	missense	23335			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.3697G>A	18.37:g.54591323G>A	ENSP00000254442:p.Glu1233Lys		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869877	0.91587	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.69806	-0.43;2.64	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.972	T	0.71248	-0.4649	10	0.33141	T	0.24	.	18.869	0.92305	0.0:0.0:1.0:0.0	.	1200;1233	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	K	1233;1200;558;1200	ENSP00000254442:E1233K;ENSP00000350187:E1200K	ENSP00000254442:E1233K	E	+	1	0	WDR7	52742321	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	9.438000	0.97539	2.553000	0.86117	0.591000	0.81541	GAG		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			A	54591323	G	A	54591323	3	1	43	1	0	0	0	0	1	0	0	0	17317	1059	37	1	3779	1	WDR7	18	54591323	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	232864	54591323	23485925	880	4057											
ALPK2	115701	broad.mit.edu	37	chr18	56191246	56191246	+	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	taatagagtccctggtccttCggactggcttgcacgatggc	7	11	12	11	2	0	1	0	0	0	1	3	3	2	2	2	4	1	2	2	4	2	4	rs145864025	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:56191246C>T	ENST00000361673.3	-	7	5763	c.5550G>A	c.(5548-5550)ccG>ccA	p.P1850P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1850	Ig-like 2.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTGGTCCTTCGGACTGGCTT	0.448													C|||	4	0.000798722	0.003	0	5008	,	,		22113	0		0	False		,,,				2504	0					.											0								C		19,4387	26.2+/-53.5	0,19,2184	91	87	89		5550	-0.9	0.8	18	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous	ALPK2	NM_052947.3		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		1850/2171	56191246	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5550G>A	18.37:g.56191246C>T			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.448	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56191246	C	T	56191246	2	4	43	1	0	0	0	0	0	0	0	1	545	871	31	1		1	ALPK2	18	56191246	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1599923	56191246	21886002	881	4058											
DOK6	220164	bcgsc.ca	37	chr18	67406218	67406218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgtgtgacacaggagAaggactattcacttttcaaa	15	10	9	7	0	2	3	2	1	0	2	2	5	2	4	0	2	0	0	0	2	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:67406218A>G	ENST00000382713.5	+	6	807	c.617A>G	c.(616-618)gAa>gGa	p.E206G	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	206	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GACACAGGAGAAGGACTATTC	0.428																																						.											0													154	151	152					18																	67406218		2203	4300	6503	SO:0001583	missense	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.617A>G	18.37:g.67406218A>G	ENSP00000372160:p.Glu206Gly		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880649	0.51801	.	.	ENSG00000206052	ENST00000382713	D	0.85258	-1.96	6.17	6.17	0.99709	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94001	0.7275	10	0.66056	D	0.02	-18.3736	16.0034	0.80327	1.0:0.0:0.0:0.0	.	206	Q6PKX4	DOK6_HUMAN	G	206	ENSP00000372160:E206G	ENSP00000372160:E206G	E	+	2	0	DOK6	65557198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.160000	0.94734	2.371000	0.80710	0.533000	0.62120	GAA		0.428	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		G	67406218	A	G	67406218	3	3	43	1	0	0	0	0	1	0	0	0	4701	246	9	4	639	4	DOK6	18	67406218	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	11214972	67406218	10671030	882	4059											
ATP9B	374868	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	76886295	76886295	+	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	cttggctgttactatgacacGggaagcaattgatgaatttc	11	13	10	7	1	0	3	0	3	0	0	1	4	0	4	0	2	2	3	0	2	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:76886295G>A	ENST00000426216.2	+	5	604	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.R196Q|ATP9B_ENST00000591464.1_3'UTR	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	196					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)		ACTATGACACGGGAAGCAATT	0.333																																						.											0													168	147	154					18																	76886295		2203	4300	6503	SO:0001583	missense	374868			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.587G>A	18.37:g.76886295G>A	ENSP00000398076:p.Arg196Gln		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060644	0.76074	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671	T;T	0.76709	-1.04;-1.04	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.88906	2.99	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.952	D	0.91498	0.5217	10	0.87932	D	0	.	19.164	0.93546	0.0:0.0:1.0:0.0	.	196;196	O43861;O43861-2	ATP9B_HUMAN;.	Q	119;196;196	ENSP00000398076:R196Q;ENSP00000304500:R196Q	ENSP00000304500:R196Q	R	+	2	0	ATP9B	74987283	1.000000	0.71417	0.758000	0.31321	0.165000	0.22458	8.533000	0.90617	2.703000	0.92315	0.591000	0.81541	CGG		0.333	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		A	76886295	G	A	76886295	3	1	43	1	0	0	0	0	1	0	0	0	1199	1116	39	1	605	1	ATP9B	18	76886295	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	9480077	76886295	1190953	883	4060											
NFATC1	4772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	chr18	77170445	77170445	+	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	caacgtcagccccgccctgcCgctccccacggcgcactcca	6	4	8	23	5	1	0	1	0	0	0	3	0	3	0	7	1	3	2	7	1	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:77170445C>T	ENST00000427363.2	+	2	170	c.170C>T	c.(169-171)cCg>cTg	p.P57L	NFATC1_ENST00000591814.1_Missense_Mutation_p.P57L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.P44L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P44L|NFATC1_ENST00000318065.5_Missense_Mutation_p.P44L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P44L|NFATC1_ENST00000587635.1_Missense_Mutation_p.P57L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P57L|NFATC1_ENST00000253506.5_Missense_Mutation_p.P57L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	57					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCCGCCCTGCCGCTCCCCACG	0.632																																					GBM(151;1210 2593 28719 45011)	.											0													66	78	74					18																	77170445		2203	4299	6502	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.170C>T	18.37:g.77170445C>T	ENSP00000389377:p.Pro57Leu		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	14.76	2.632325	0.46944	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.48836	0.8;0.8;0.8	4.39	3.51	0.40186	.	0.394001	0.26824	N	0.022317	T	0.57710	0.2072	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.995;0.992;0.963;0.992;0.992;0.997;0.979	P;B;B;P;P;P;B	0.52881	0.712;0.44;0.238;0.559;0.559;0.559;0.319	T	0.64997	-0.6275	10	0.87932	D	0	-22.4283	14.4591	0.67438	0.0:0.8519:0.1481:0.0	.	44;44;57;57;57;44;57	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	57;57;57;44;44;21	ENSP00000253506:P57L;ENSP00000442435:P57L;ENSP00000327850:P44L	ENSP00000253506:P57L	P	+	2	0	NFATC1	75271433	0.996000	0.38824	0.023000	0.16930	0.004000	0.04260	3.399000	0.52586	1.054000	0.40438	-0.264000	0.10439	CCG		0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		T	77170445	C	T	77170445	3	4	43	1	0	0	0	0	1	0	0	0	10361	652	23	1	268	1	NFATC1	18	77170445	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	284150	77170445	906803	884	4061											
BSG	682	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	579590	579590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccacagaggtcacagggcAccgctggctgaaggggggcg	8	3	18	12	3	1	2	1	1	0	1	1	2	1	2	2	6	0	3	2	6	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:579590A>G	ENST00000333511.3	+	3	576	c.506A>G	c.(505-507)cAc>cGc	p.H169R	BSG_ENST00000545507.2_5'UTR|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Missense_Mutation_p.H53R	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	169	Ig-like C2-type.				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)		GTCACAGGGCACCGCTGGCTG	0.627																																						.											0													61	53	56					19																	579590		2202	4298	6500	SO:0001583	missense	682			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.506A>G	19.37:g.579590A>G	ENSP00000333769:p.His169Arg		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405786	0.42715	.	.	ENSG00000172270	ENST00000333511;ENST00000353555	T;T	0.13307	2.6;3.12	4.24	4.24	0.50183	Immunoglobulin-like (1);	0.179527	0.48286	D	0.000188	T	0.35393	0.0930	M	0.83483	2.645	0.42996	D	0.994508	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.997	T	0.18116	-1.0347	10	0.25106	T	0.35	-53.7606	9.7618	0.40537	1.0:0.0:0.0:0.0	.	53;169;53;169	P35613-2;B4DNE1;Q54A51;P35613	.;.;.;BASI_HUMAN	R	169;53	ENSP00000333769:H169R;ENSP00000343809:H53R	ENSP00000333769:H169R	H	+	2	0	BSG	530590	1.000000	0.71417	0.654000	0.29608	0.144000	0.21451	2.723000	0.47277	1.570000	0.49709	0.454000	0.30748	CAC		0.627	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		G	579590	A	G	579590	3	3	43	1	0	0	0	0	1	0	0	0	1529	159	6	2	552	2	BSG	19	579590	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10		579590	58549393	885	4062											
SBNO2	22904	hgsc.bcm.edu;mdanderson.org	37	chr19	1116900	1116900	+	Missense_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	cccgcgtgcgcgcctcgcccGtggactgcagcccgatgacc	4	5	13	19	7	0	1	0	1	0	0	1	3	0	2	5	1	3	1	5	1	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1116900G>A	ENST00000361757.3	-	16	1967	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	SBNO2_ENST00000438103.2_Missense_Mutation_p.T520M|SBNO2_ENST00000587024.1_Missense_Mutation_p.T567M	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	577					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTCGCCCGTGGACTGCAG	0.677																																						.											0																																										SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1730C>T	19.37:g.1116900G>A	ENSP00000354733:p.Thr577Met		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609753	0.87258	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.37058	1.22;1.22	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.91612	3.225	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	0.77259	-0.2654	10	0.87932	D	0	-21.2277	16.0091	0.80385	0.0:0.0:1.0:0.0	.	577;577;520	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	M	577;520;601	ENSP00000354733:T577M;ENSP00000400762:T520M	ENSP00000250872:T601M	T	-	2	0	SBNO2	1067900	1.000000	0.71417	0.937000	0.37676	0.824000	0.46624	9.372000	0.97165	2.320000	0.78422	0.563000	0.77884	ACG		0.677	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		A	1116900	G	A	1116900	3	1	43	1	0	0	0	0	1	0	0	0	13863	1145	40	1	2438	1	SBNO2	19	1116900	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	537310	1116900	58012083	886	4063											
SBNO2	22904	mdanderson.org	37	chr19	1116911	1116911	+	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	gcctcgcccgtggactgcagCccgatgaccacgcactgtgg	6	6	13	16	4	0	1	0	1	0	0	1	3	0	2	4	2	2	2	4	2	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1116911C>T	ENST00000361757.3	-	16	1956	c.1719G>A	c.(1717-1719)ggG>ggA	p.G573G	SBNO2_ENST00000438103.2_Silent_p.G516G|SBNO2_ENST00000587024.1_Silent_p.G563G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	573					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACTGCAGCCCGATGACCA	0.687																																						.											0													24	28	26					19																	1116911		2138	4209	6347	SO:0001819	synonymous_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1719G>A	19.37:g.1116911C>T			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																				0.687	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		T	1116911	C	T	1116911	2	4	43	1	0	0	0	0	0	0	0	1	13863	726	26	3		3	SBNO2	19	1116911	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11	1116911	58012072	887	4064											
TCF3	6929	hgsc.bcm.edu	37	chr19	1621856	1621856	+	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	cccaggaggctgtcggccccGctgacaggcggcgtgtggct	4	6	17	14	4	0	1	0	1	0	0	1	2	0	2	3	6	0	3	3	6	0	0	rs377363979		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1621856G>A	ENST00000262965.5	-	11	1280	c.936C>T	c.(934-936)agC>agT	p.S312S	TCF3_ENST00000453954.2_Silent_p.S228S|TCF3_ENST00000588136.1_Silent_p.S312S|TCF3_ENST00000344749.5_Silent_p.S312S|TCF3_ENST00000395423.3_Silent_p.S261S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(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)		TGTCGGCCCCGCTGACAGGCG	0.701			T	"PBX1, HLF, TFPT"	pre B-ALL																																	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0								G	,	1,4351		0,1,2175	9	12	11		936,936	-8.8	0	19		11	2,8548		0,2,4273	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	0,3,6448	AA,AG,GG		0.0234,0.023,0.0233	,	312/652,312/655	1621856	3,12899	2176	4275	6451	SO:0001819	synonymous_variant	6929			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.936C>T	19.37:g.1621856G>A			Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																				0.701	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1621856	G	A	1621856	2	1	43	1	0	0	0	0	0	0	0	1	15691	1078	38	1		1	TCF3	19	1621856	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	504945	1621856	57507127	888	4065											
FAM108A1	81926	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	1881247	1881247	+	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	tgctcacctggcaccaggcaCgcagcgaacatacatgcagg	11	5	11	14	2	1	0	1	0	0	0	1	1	1	0	2	3	5	5	2	3	2	1	rs536953984		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1881247C>T	ENST00000292577.7	-	2	752	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	ABHD17A_ENST00000590661.1_Missense_Mutation_p.V107M|ABHD17A_ENST00000250974.9_Missense_Mutation_p.V107M	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	107						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GCACCAGGCACGCAGCGAACA	0.657													c|||	1	0.000199681	0	0	5008	,	,		14967	0		0	False		,,,				2504	0.001					.											0													37	42	40					19																	1881247		2202	4300	6502	SO:0001583	missense	81926			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.319G>A	19.37:g.1881247C>T	ENSP00000292577:p.Val107Met		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.148561	0.78001	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.32272	1.46;1.51	4.0	4.0	0.46444	.	0.251859	0.39210	N	0.001438	T	0.41673	0.1169	L	0.54323	1.7	0.46631	D	0.999133	P;D;D;D	0.58268	0.904;0.982;0.967;0.982	B;P;P;P	0.52710	0.255;0.707;0.52;0.62	T	0.37663	-0.9696	10	0.49607	T	0.09	-8.8925	15.6325	0.76923	0.0:1.0:0.0:0.0	.	107;107;107;107	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	M	107	ENSP00000250974:V107M;ENSP00000292577:V107M	ENSP00000250974:V107M	V	-	1	0	FAM108A1	1832247	0.534000	0.26362	0.949000	0.38748	0.778000	0.44026	2.927000	0.48900	2.226000	0.72624	0.561000	0.74099	GTG		0.657	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		T	1881247	C	T	1881247	3	4	43	1	0	0	0	0	1	0	0	0	5391	536	19	1	786	1	FAM108A1	19	1881247	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	259391	1881247	57247736	889	4066											
AMH	268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	2249496	2249496	+	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	agcccacaagagcctctgtgCctggtggcactgggcgggga	7	6	16	12	1	1	1	0	0	1	1	1	2	1	2	3	5	3	1	3	5	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2249496C>T	ENST00000221496.4	+	1	187	c.165C>T	c.(163-165)tgC>tgT	p.C55C	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	55					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)		AGCCTCTGTGCCTGGTGGCAC	0.667									Persistant Mullerian Duct Syndrome (type I and II)																													.											0													17	19	19					19																	2249496		2197	4297	6494	SO:0001819	synonymous_variant	268	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	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.165C>T	19.37:g.2249496C>T			O75246|Q6GTN3	Silent	SNP	ENST00000221496.4	37	CCDS12085.1																																																																																				0.667	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		T	2249496	C	T	2249496	2	4	43	1	0	0	0	0	0	0	0	1	572	747	26	3		3	AMH	19	2249496	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	368249	2249496	56879487	890	4067											
TMPRSS9	360200	hgsc.bcm.edu;mdanderson.org	37	chr19	2425067	2425067	+	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	tgagcggcgcggaggggcagCtggagcgcgtggcgcgcatc	5	4	21	11	7	0	1	0	1	0	0	1	3	0	3	0	6	3	3	0	6	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2425067C>T	ENST00000332578.3	+	15	2683	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	895	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)		GGAGGGGCAGCTGGAGCGCGT	0.711																																						.											0													12	10	11					19																	2425067		2178	4267	6445	SO:0001819	synonymous_variant	360200			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.2683C>T	19.37:g.2425067C>T			Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																				0.711	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		T	2425067	C	T	2425067	2	4	43	1	0	0	0	0	0	0	0	1	16250	796	28	4		4	TMPRSS9	19	2425067	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	175571	2425067	56703916	891	4068											
SGTA	6449	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	2757763	2757763	+	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	ccaaggggttgttgccacccGaaatcatgccggacatgctg	9	8	12	12	2	1	0	1	0	0	0	1	2	1	1	4	3	3	3	4	3	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2757763G>A	ENST00000221566.2	-	10	916	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	252					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCCACCCGAAATCATGCC	0.667																																						.											0													84	67	73					19																	2757763		2202	4300	6502	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.755C>T	19.37:g.2757763G>A	ENSP00000221566:p.Ser252Leu		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365421	0.24684	.	.	ENSG00000104969	ENST00000221566	T	0.37235	1.21	4.68	3.63	0.41609	.	0.439728	0.26055	N	0.026613	T	0.32645	0.0836	M	0.72118	2.19	0.58432	D	0.999995	P	0.46512	0.879	B	0.34180	0.177	T	0.26395	-1.0104	10	0.52906	T	0.07	-13.5307	11.172	0.48577	0.0:0.0:0.8153:0.1847	.	252	O43765	SGTA_HUMAN	L	252	ENSP00000221566:S252L	ENSP00000221566:S252L	S	-	2	0	SGTA	2708763	1.000000	0.71417	0.121000	0.21740	0.002000	0.02628	7.190000	0.77755	0.951000	0.37770	-0.181000	0.13052	TCG		0.667	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		A	2757763	G	A	2757763	3	1	43	1	0	0	0	0	1	0	0	0	14225	1059	37	1	194	1	SGTA	19	2757763	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	332696	2757763	56371220	892	4069											
S1PR4	8698	broad.mit.edu	37	chr19	3179323	3179323	+	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	gctggccgcgctgctggggaTgctgcctttgctgggctgga	2	10	18	11	2	0	0	0	0	0	0	0	2	0	2	2	5	4	6	2	5	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:3179323T>G	ENST00000246115.3	+	1	588	c.533T>G	c.(532-534)aTg>aGg	p.M178R	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	178					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CTGCTGGGGATGCTGCCTTTG	0.667																																					GBM(82;318 1638 33279 49708)	.											0													73	77	76					19																	3179323		2203	4299	6502	SO:0001583	missense	8698			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.533T>G	19.37:g.3179323T>G	ENSP00000246115:p.Met178Arg		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	T	9.100	1.003889	0.19199	.	.	ENSG00000125910	ENST00000246115	T	0.72505	-0.66	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.183707	0.38381	N	0.001712	T	0.56514	0.1990	L	0.27053	0.805	0.29963	N	0.819214	B	0.14438	0.01	B	0.06405	0.002	T	0.54970	-0.8213	10	0.36615	T	0.2	.	12.346	0.55122	0.0:0.0:0.0:1.0	.	178	O95977	S1PR4_HUMAN	R	178	ENSP00000246115:M178R	ENSP00000246115:M178R	M	+	2	0	S1PR4	3130323	1.000000	0.71417	0.972000	0.41901	0.067000	0.16453	4.698000	0.61789	1.660000	0.50760	0.379000	0.24179	ATG		0.667	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		G	3179323	T	G	3179323	3	3	43	1	0	0	0	0	1	0	0	0	13796	1464	51	5	535	5	S1PR4	19	3179323	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	421560	3179323	55949660	893	4070											
TBXA2R	6915	hgsc.bcm.edu	37	chr19	3595775	3595775	+	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	aggctggagacgccggagcaCggcgcggcggaacaggatat	10	3	18	10	6	0	1	0	0	0	1	0	5	0	4	1	7	2	2	1	7	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:3595775C>T	ENST00000375190.4	-	3	1336	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.V315M|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R185H	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	315					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)	CGCCGGAGCACGGCGCGGCGG	0.677																																						.											0													17	22	21					19																	3595775		2172	4275	6447	SO:0001583	missense	6915				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.943G>A	19.37:g.3595775C>T	ENSP00000364336:p.Val315Met		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732336	0.69189	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.39229	1.09;1.09	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.55641	0.1933	L	0.32530	0.975	0.51767	D	0.99993	D	0.89917	1.0	D	0.87578	0.998	T	0.59043	-0.7528	10	0.87932	D	0	-38.9854	17.4889	0.87698	0.0:1.0:0.0:0.0	.	315	P21731	TA2R_HUMAN	M	315	ENSP00000393333:V315M;ENSP00000364336:V315M	ENSP00000364336:V315M	V	-	1	0	TBXA2R	3546775	1.000000	0.71417	0.825000	0.32803	0.106000	0.19336	5.784000	0.68990	2.486000	0.83907	0.561000	0.74099	GTG		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			T	3595775	C	T	3595775	3	4	43	1	0	0	0	0	1	0	0	0	15660	536	19	1	337	1	TBXA2R	19	3595775	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	416452	3595775	55533208	894	4071											
CHAF1A	10036	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	4409549	4409549	+	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	atcttggctgtgagaccaccGcaaatcaagtcccttccagc	10	9	8	14	1	2	1	1	1	1	1	4	2	4	1	4	1	1	2	4	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:4409549G>A	ENST00000301280.5	+	3	854	c.753G>A	c.(751-753)ccG>ccA	p.P251P		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	251	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)	p.P251P(1)		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)		TGAGACCACCGCAAATCAAGT	0.542								Chromatin Structure																														.											1	Substitution - coding silent(1)	endometrium(1)											108	102	104					19																	4409549		2203	4300	6503	SO:0001819	synonymous_variant	10036			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.753G>A	19.37:g.4409549G>A			Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	CCDS32875.1																																																																																				0.542	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		A	4409549	G	A	4409549	2	1	43	1	0	0	0	0	0	0	0	1	3311	1074	38	1		1	CHAF1A	19	4409549	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	813774	4409549	54719434	895	4072											
PLIN4	729359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	4511019	4511019	+	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	cataagcacagccttggaggCgtccacgccggtctgcacgg	8	6	13	14	4	1	0	0	0	1	0	2	1	2	1	3	4	3	2	3	4	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:4511019C>T	ENST00000301286.3	-	3	2910	c.2911G>A	c.(2911-2913)Gcc>Acc	p.A971T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	971	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCTTGGAGGCGTCCACGCCG	0.617																																						.											0													42	48	46					19																	4511019		2173	4255	6428	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2911G>A	19.37:g.4511019C>T	ENSP00000301286:p.Ala971Thr		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	0.035	-1.313322	0.01331	.	.	ENSG00000167676	ENST00000301286	T	0.01767	4.65	4.9	2.79	0.32731	.	0.000000	0.49305	N	0.000143	T	0.00666	0.0022	N	0.01048	-1.04	0.19775	N	0.999956	B	0.02656	0.0	B	0.04013	0.001	T	0.48456	-0.9034	10	0.11182	T	0.66	-9.5149	7.6921	0.28573	0.0:0.2515:0.0:0.7485	.	971	Q96Q06	PLIN4_HUMAN	T	971	ENSP00000301286:A971T	ENSP00000301286:A971T	A	-	1	0	PLIN4	4462019	0.011000	0.17503	0.929000	0.37066	0.001000	0.01503	0.205000	0.17356	0.728000	0.32382	-0.443000	0.05667	GCC		0.617	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4511019	C	T	4511019	3	4	43	1	0	0	0	0	1	0	0	0	12092	768	27	1	1178	1	PLIN4	19	4511019	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	101470	4511019	54617964	896	4073											
LONP1	9361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	5707746	5707746	+	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	gtcctgcagctcatgggactCggccccggtgagcgcggcgc	4	6	16	15	5	1	1	1	1	0	0	3	2	2	2	3	4	3	2	3	4	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:5707746C>T	ENST00000360614.3	-	6	1181	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	LONP1_ENST00000593119.1_Missense_Mutation_p.E278K|LONP1_ENST00000585374.1_Missense_Mutation_p.E228K|LONP1_ENST00000540670.2_Missense_Mutation_p.E146K|LONP1_ENST00000590729.1_Missense_Mutation_p.E212K	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						TCATGGGACTCGGCCCCGGTG	0.662																																						.											0													58	60	59					19																	5707746		2203	4300	6503	SO:0001583	missense	9361			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.1024G>A	19.37:g.5707746C>T	ENSP00000353826:p.Glu342Lys			Missense_Mutation	SNP	ENST00000360614.3	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652507	0.67472	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.41400	1.0;1.0	4.63	3.57	0.40892	Peptidase S16, lon N-terminal (2);	0.051787	0.85682	D	0.000000	T	0.56934	0.2019	M	0.85041	2.73	0.58432	D	0.999999	D;P;D	0.55800	0.973;0.951;0.973	P;P;P	0.55087	0.768;0.768;0.768	T	0.58769	-0.7578	10	0.27785	T	0.31	-44.5514	10.9772	0.47473	0.0:0.9037:0.0:0.0963	.	342;278;342	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	342;306;146	ENSP00000353826:E342K;ENSP00000441523:E146K	ENSP00000351177:E306K	E	-	1	0	LONP1	5658746	1.000000	0.71417	0.991000	0.47740	0.223000	0.24884	7.368000	0.79567	2.111000	0.64477	0.555000	0.69702	GAG		0.662	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		T	5707746	C	T	5707746	3	4	43	1	0	0	0	0	1	0	0	0	8892	893	31	1	1907	1	LONP1	19	5707746	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1196727	5707746	53421237	897	4074											
FUT6	2528	broad.mit.edu	37	chr19	5832569	5832569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcttggccgggcccaGgggatccatgggtcagagta	6	8	17	10	1	1	1	1	0	0	1	2	2	2	2	3	6	0	2	3	6	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:5832569G>T	ENST00000318336.4	-	3	1204	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	FUT6_ENST00000527106.1_Missense_Mutation_p.L4M|FUT6_ENST00000592563.1_Missense_Mutation_p.L4M|FUT6_ENST00000524754.1_Missense_Mutation_p.L4M|FUT6_ENST00000286955.5_Missense_Mutation_p.L4M	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	4					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GCCGGGCCCAGGGGATCCATG	0.572																																						.											0													24	23	23					19																	5832569		2203	4298	6501	SO:0001583	missense	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.10C>A	19.37:g.5832569G>T	ENSP00000313398:p.Leu4Met		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	6.593	0.477774	0.12521	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165;ENST00000531085;ENST00000531199;ENST00000532464;ENST00000528505	T;T;T;T;T;T;T;T;T	0.60424	1.47;1.47;1.47;1.47;0.73;1.53;1.05;0.95;0.19	3.7	-0.311	0.12761	.	2.076500	0.03294	N	0.188040	T	0.52386	0.1731	L	0.59436	1.845	0.09310	N	1	P;P	0.45283	0.855;0.744	B;B	0.39027	0.288;0.288	T	0.46721	-0.9171	10	0.39692	T	0.17	.	7.2312	0.26043	0.0:0.1502:0.4851:0.3647	.	4;4	C9J8A2;P51993	.;FUT6_HUMAN	M	4	ENSP00000431708:L4M;ENSP00000432954:L4M;ENSP00000313398:L4M;ENSP00000286955:L4M;ENSP00000436547:L4M;ENSP00000432161:L4M;ENSP00000436413:L4M;ENSP00000431880:L4M;ENSP00000433811:L4M	ENSP00000286955:L4M	L	-	1	2	FUT6	5783569	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.153000	0.16323	-0.057000	0.13199	0.436000	0.28706	CTG		0.572	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		T	5832569	G	T	5832569	3	4	43	1	0	0	0	0	1	0	0	0	6108	991	35	5	1073	5	FUT6	19	5832569	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	124823	5832569	53296414	898	4075											
GPR108	56927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	6733232	6733232	+	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	ccagcggccaggaagcaggcGgacatgaccatgtagagctt	11	5	14	11	2	0	2	0	1	0	1	0	4	0	4	3	4	3	3	3	4	2	2	rs77003966	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:6733232G>A	ENST00000264080.7	-	9	830	c.804C>T	c.(802-804)tcC>tcT	p.S268S	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.S26S	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	268						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAAGCAGGCGGACATGACCA	0.627													G|||	3	0.000599042	0.0023	0	5008	,	,		16773	0		0	False		,,,				2504	0					.											0								G		9,4243		0,9,2117	60	70	67		804	-6.2	0.9	19	dbSNP_132	67	0,8446		0,0,4223	no	coding-synonymous	GPR108	NM_001080452.1		0,9,6340	AA,AG,GG		0.0,0.2117,0.0709		268/544	6733232	9,12689	2126	4223	6349	SO:0001819	synonymous_variant	56927				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.804C>T	19.37:g.6733232G>A			B9EJD7	Silent	SNP	ENST00000264080.7	37	CCDS42479.1																																																																																				0.627	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			A	6733232	G	A	6733232	2	1	43	1	0	0	0	0	0	0	0	1	6624	1103	39	1		1	GPR108	19	6733232	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	900663	6733232	52395751	899	4076											
ARHGEF18	23370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	7505040	7505040	+	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	ggcacagcgcgctccccggcCgccccgagctgtctttttac	4	8	11	18	5	1	0	0	0	1	0	2	1	2	0	5	2	3	3	5	2	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7505040C>T	ENST00000359920.6	+	1	467	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	72					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)	p.R72C(1)		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)				GCTCCCCGGCCGCCCCGAGCT	0.662																																						.											1	Substitution - Missense(1)	endometrium(1)											18	23	21					19																	7505040		692	1591	2283	SO:0001583	missense	23370			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.214C>T	19.37:g.7505040C>T	ENSP00000352995:p.Arg72Cys		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983984	0.18889	.	.	ENSG00000104880	ENST00000359920	T	0.31769	1.48	5.49	4.44	0.53790	.	0.551628	0.15055	N	0.283090	T	0.22589	0.0545	N	0.12182	0.205	0.35488	D	0.798702	D	0.65815	0.995	B	0.44315	0.446	T	0.34725	-0.9817	10	0.87932	D	0	-1.0871	13.9825	0.64313	0.0:0.8471:0.1529:0.0	.	72	Q6ZSZ5	ARHGI_HUMAN	C	72	ENSP00000352995:R72C	ENSP00000352995:R72C	R	+	1	0	ARHGEF18	7411040	0.914000	0.31030	0.068000	0.19968	0.180000	0.23129	1.808000	0.38912	1.289000	0.44618	0.561000	0.74099	CGC		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		T	7505040	C	T	7505040	3	4	43	1	0	0	0	0	1	0	0	0	901	652	23	1	216	1	ARHGEF18	19	7505040	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	771808	7505040	51623943	900	4077											
ARHGEF18	23370	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	7521290	7521290	+	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	aatacgtctttgcttctgtgGtatgtatcctgtctcttcag	6	18	8	9	1	4	0	1	0	3	0	6	0	5	0	1	1	2	3	1	1	4	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7521290G>A	ENST00000359920.6	+	8	1870		c.e8+1		ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18						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)				TGCTTCTGTGGTATGTATCCT	0.502																																						.											0													265	244	251					19																	7521290		2203	4300	6503	SO:0001630	splice_region_variant	23370			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.1617+1G>A	19.37:g.7521290G>A			A8MV62|B5ME81|O60274|Q6DD92	Splice_Site	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988343	0.35036	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1329	0.72539	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF18	7427290	1.000000	0.71417	0.762000	0.31397	0.109000	0.19521	9.177000	0.94849	2.167000	0.68274	0.655000	0.94253	.		0.502	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	Intron	A	7521290	G	A	7521290	5	1	43	1	0	0	0	0	0	0	1	0	901	1275	44	3	1648	3	ARHGEF18	19	7521290	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	16250	7521290	51607693	901	4078											
PNPLA6	10908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	chr19	7606949	7606949	+	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	gtctccatgccaggggacatCtcaggtttggagcactgggt	7	10	14	10	0	2	0	1	0	2	0	4	2	2	2	2	5	2	2	2	5	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7606949C>T	ENST00000221249.6	+	13	1562	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	PNPLA6_ENST00000600737.1_Silent_p.I416I|PNPLA6_ENST00000545201.2_Silent_p.I377I|PNPLA6_ENST00000414982.3_Silent_p.I425I|PNPLA6_ENST00000450331.3_Silent_p.I377I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	416					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						CAGGGGACATCTCAGGTTTGG	0.597																																						.											0													42	41	41					19																	7606949		2203	4300	6503	SO:0001819	synonymous_variant	10908			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.1131C>T	19.37:g.7606949C>T			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.597	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7606949	C	T	7606949	2	4	43	1	0	0	0	0	0	0	0	1	12169	903	32	4		4	PNPLA6	19	7606949	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	85659	7606949	51522034	902	4079											
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	8201286	8201286	+	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	gctcaccaatgcactcgccgCgcacgtcctgggtgtagccc	6	7	11	17	4	1	0	1	0	0	0	3	0	2	0	4	1	2	4	4	1	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8201286C>T	ENST00000600128.1	-	11	1745	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	FBN3_ENST00000270509.2_Missense_Mutation_p.R444H|FBN3_ENST00000601739.1_Missense_Mutation_p.R444H			Q75N90	FBN3_HUMAN	fibrillin 3	444	EGF-like 3. {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						GCACTCGCCGCGCACGTCCTG	0.647																																						.											0													73	68	69					19																	8201286		2203	4300	6503	SO:0001583	missense	84467				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.1331G>A	19.37:g.8201286C>T	ENSP00000470498:p.Arg444His		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	14.65	2.598035	0.46318	.	.	ENSG00000142449	ENST00000270509	T	0.29917	1.55	4.4	2.25	0.28309	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.17704	0.0425	L	0.37466	1.105	0.31353	N	0.682257	P	0.49253	0.921	B	0.31869	0.137	T	0.15350	-1.0440	10	0.45353	T	0.12	.	10.0282	0.42085	0.0:0.8332:0.0:0.1668	.	444	Q75N90	FBN3_HUMAN	H	444	ENSP00000270509:R444H	ENSP00000270509:R444H	R	-	2	0	FBN3	8107286	0.908000	0.30866	0.002000	0.10522	0.009000	0.06853	2.777000	0.47717	0.313000	0.23062	0.462000	0.41574	CGC		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8201286	C	T	8201286	3	4	43	1	0	0	0	0	1	0	0	0	5704	768	27	1	7314	1	FBN3	19	8201286	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	594337	8201286	50927697	903	4080											
FBN3	84467	broad.mit.edu	37	chr19	8209801	8209801	+	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	atgaagccatacacacaggcGcagcggttgggcccaatgca	12	5	12	12	2	0	1	0	1	0	0	0	1	0	1	2	3	4	3	2	3	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8209801G>A	ENST00000600128.1	-	6	915	c.501C>T	c.(499-501)tgC>tgT	p.C167C	FBN3_ENST00000270509.2_Silent_p.C167C|FBN3_ENST00000601739.1_Silent_p.C167C			Q75N90	FBN3_HUMAN	fibrillin 3	167	EGF-like 1. {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						ACACACAGGCGCAGCGGTTGG	0.622																																						.											0													52	40	44					19																	8209801		2202	4300	6502	SO:0001819	synonymous_variant	84467				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.501C>T	19.37:g.8209801G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8209801	G	A	8209801	2	1	43	1	0	0	0	0	0	0	0	1	5704	1079	38	1		1	FBN3	19	8209801	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8515	8209801	50919182	904	4081											
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	8592315	8592315	+	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	gtcccttcttcactttctctCgcccaatcacatacacacac	9	12	2	18	1	4	0	2	0	2	0	7	0	5	0	2	0	1	0	2	0	2	4	rs201723456	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8592315C>T	ENST00000338257.8	-	22	2648	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	794	Myosin tail. {ECO:0000255}.				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						CACTTTCTCTCGCCCAATCAC	0.562													C|||	2	0.000399361	8e-04	0	5008	,	,		21929	0		0	False		,,,				2504	0.001					.											0								C	GLN/ARG	0,4020		0,0,2010	83	84	83		2381	5.2	1	19		83	1,8367		0,1,4183	no	missense	MYO1F	NM_012335.3	43	0,1,6193	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	794/1099	8592315	1,12387	2010	4184	6194	SO:0001583	missense	4542			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.2381G>A	19.37:g.8592315C>T	ENSP00000344871:p.Arg794Gln		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	27.9	4.876209	0.91664	0.0	1.2E-4	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.35973	1.28	5.16	5.16	0.70880	Myosin tail 2 (1);	0.000000	0.64402	D	0.000001	T	0.32675	0.0837	L	0.52126	1.63	0.80722	D	1	P	0.39022	0.655	B	0.34489	0.184	T	0.08994	-1.0695	10	0.21014	T	0.42	.	17.7053	0.88308	0.0:1.0:0.0:0.0	.	794	O00160	MYO1F_HUMAN	Q	839;794	ENSP00000344871:R794Q	ENSP00000304899:R839Q	R	-	2	0	MYO1F	8498315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.773000	0.62331	2.430000	0.82344	0.456000	0.33151	CGA		0.562	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8592315	C	T	8592315	3	4	43	1	0	0	0	0	1	0	0	0	10073	884	31	1	943	1	MYO1F	19	8592315	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	382514	8592315	50536668	905	4082											
OLFM2	93145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	9967485	9967485	+	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	gtgggcgcagtcactcacccGgctatccgcactgggggcca	6	6	14	15	3	2	0	2	0	0	0	3	0	3	0	3	4	0	3	3	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:9967485G>A	ENST00000264833.4	-	5	870	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R151W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	229	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						TCACTCACCCGGCTATCCGCA	0.647																																						.											0													22	22	22					19																	9967485		2202	4300	6502	SO:0001583	missense	93145			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.685C>T	19.37:g.9967485G>A	ENSP00000264833:p.Arg229Trp		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839856	0.71488	.	.	ENSG00000105088	ENST00000264833	D	0.89746	-2.56	4.45	3.4	0.38934	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	M	0.88704	2.975	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.93817	0.7115	9	.	.	.	.	9.735	0.40382	0.0:0.0:0.6267:0.3732	.	229	O95897	NOE2_HUMAN	W	229	ENSP00000264833:R229W	.	R	-	1	2	OLFM2	9828485	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.534000	0.23098	1.069000	0.40788	0.563000	0.77884	CGG		0.647	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			A	9967485	G	A	9967485	3	1	43	1	0	0	0	0	1	0	0	0	10853	1115	39	1	687	1	OLFM2	19	9967485	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1375170	9967485	49161498	906	4083											
DNMT1	1786	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	10246467	10246467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggtgtcagggaagcccTgggagcgggcacactcccgc	7	5	17	12	2	1	0	1	0	0	0	2	2	2	2	2	5	2	2	2	5	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10246467T>C	ENST00000340748.4	-	38	4905	c.4670A>G	c.(4669-4671)cAg>cGg	p.Q1557R	DNMT1_ENST00000540357.1_Missense_Mutation_p.Q1560R|DNMT1_ENST00000359526.4_Missense_Mutation_p.Q1573R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1557	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AGGGAAGCCCTGGGAGCGGGC	0.697																																						.											0													22	21	21					19																	10246467		2198	4297	6495	SO:0001583	missense	1786			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.4670A>G	19.37:g.10246467T>C	ENSP00000345739:p.Gln1557Arg		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530539	0.85706	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.56275	0.47;0.47;0.47	5.22	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	H	0.98883	4.36	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86248	0.1647	10	0.87932	D	0	-37.846	11.1333	0.48360	0.0:0.0:0.1553:0.8447	.	1560;1573;1557	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	R	1573;1560;1557;1425	ENSP00000352516:Q1573R;ENSP00000440457:Q1560R;ENSP00000345739:Q1557R	ENSP00000345739:Q1557R	Q	-	2	0	DNMT1	10107467	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.749000	0.85096	0.779000	0.33543	0.459000	0.35465	CAG		0.697	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		C	10246467	T	C	10246467	3	2	43	1	0	0	0	0	1	0	0	0	4675	1580	55	2	192	2	DNMT1	19	10246467	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	278982	10246467	48882516	907	4084											
ICAM4	3386	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	10398019	10398019	+	Missense_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	tgagggcctggagctccctcGcgcactgcctcgtgacctgc	4	8	13	16	3	0	2	0	2	0	0	3	3	1	3	4	2	3	2	4	2	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10398019G>A	ENST00000380770.3	+	1	377	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	ICAM4_ENST00000393717.2_Missense_Mutation_p.A111T|ICAM4_ENST00000340992.4_Missense_Mutation_p.A111T|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	111	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCTCCCTCGCGCACTGCCT	0.677																																						.											0													20	21	20					19																	10398019		2203	4300	6503	SO:0001583	missense	3386			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5347	protein-coding gene	gene with protein product		614088	"intercellular adhesion molecule 4, Landsteiner-Wiener blood group", "Landsteiner-Wiener blood group", "intercellular adhesion molecule 4 (LW blood group)"	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.331G>A	19.37:g.10398019G>A	ENSP00000370147:p.Ala111Thr		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419667	0.25552	.	.	ENSG00000105371	ENST00000340992;ENST00000380770;ENST00000393717	T;T;T	0.21932	1.98;1.98;1.98	4.18	4.18	0.49190	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.677075	0.13608	N	0.375336	T	0.20007	0.0481	N	0.22421	0.69	0.09310	N	1	D;D;D	0.57899	0.981;0.958;0.977	B;B;P	0.49047	0.356;0.353;0.599	T	0.06789	-1.0807	10	0.34782	T	0.22	-1.6884	11.8729	0.52531	0.0:0.0:1.0:0.0	.	111;111;111	Q14773-2;Q14773;Q9BWR0	.;ICAM4_HUMAN;.	T	111	ENSP00000342114:A111T;ENSP00000370147:A111T;ENSP00000377320:A111T	ENSP00000342114:A111T	A	+	1	0	ICAM4	10259019	0.125000	0.22332	0.004000	0.12327	0.006000	0.05464	4.235000	0.58666	2.162000	0.67917	0.491000	0.48974	GCG		0.677	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		A	10398019	G	A	10398019	3	1	43	1	0	0	0	0	1	0	0	0	7482	1087	38	1	333	1	ICAM4	19	10398019	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	151552	10398019	48730964	908	4085											
TYK2	7297	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	10477123	10477123	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccacctcctccagggggAtgccatggcggagagcgagg	7	5	17	12	2	0	1	0	0	0	1	2	4	2	2	5	6	2	0	5	6	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10477123A>G	ENST00000525621.1	-	6	1080	c.599T>C	c.(598-600)aTc>aCc	p.I200T	TYK2_ENST00000524462.1_Missense_Mutation_p.I15T|TYK2_ENST00000529370.1_Missense_Mutation_p.I200T|TYK2_ENST00000264818.6_Missense_Mutation_p.I200T	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	200	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)			CTCCAGGGGGATGCCATGGCG	0.607																																						.											0													94	86	89					19																	10477123		2203	4300	6503	SO:0001583	missense	7297				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.599T>C	19.37:g.10477123A>G	ENSP00000431885:p.Ile200Thr		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	A	8.411	0.844139	0.16963	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	T;T;T;T	0.75154	-0.91;0.95;0.95;0.95	5.15	5.15	0.70609	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.510102	0.15582	N	0.254823	T	0.61664	0.2365	L	0.34521	1.04	0.23260	N	0.99802	B;B	0.31769	0.339;0.061	B;B	0.24701	0.055;0.044	T	0.50224	-0.8853	10	0.21540	T	0.41	-38.9989	12.9524	0.58409	1.0:0.0:0.0:0.0	.	200;200	E9PPF2;P29597	.;TYK2_HUMAN	T	15;200;200;200	ENSP00000433203:I15T;ENSP00000431885:I200T;ENSP00000264818:I200T;ENSP00000432728:I200T	ENSP00000264818:I200T	I	-	2	0	TYK2	10338123	0.002000	0.14202	0.933000	0.37362	0.262000	0.26303	1.690000	0.37711	1.943000	0.56356	0.460000	0.39030	ATC		0.607	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			G	10477123	A	G	10477123	3	3	43	1	0	0	0	0	1	0	0	0	16807	333	12	4	3044	4	TYK2	19	10477123	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	79104	10477123	48651860	909	4086											
AP1M2	10053	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	10692022	10692022	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaacaccttgagcttgAtggtaccgacgatttcgctc	11	10	9	11	3	0	3	0	2	0	1	2	5	0	3	2	1	3	3	2	1	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10692022A>G	ENST00000250244.6	-	6	675	c.593T>C	c.(592-594)aTc>aCc	p.I198T	AP1M2_ENST00000590923.1_Missense_Mutation_p.I198T	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	198	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|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)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CTTGAGCTTGATGGTACCGAC	0.562											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													56	57	57					19																	10692022		2065	4220	6285	SO:0001583	missense	10053			AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.593T>C	19.37:g.10692022A>G	ENSP00000250244:p.Ile198Thr	666	B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	a	22.3	4.268826	0.80469	.	.	ENSG00000129354	ENST00000250244	T	0.32988	1.43	5.28	4.25	0.50352	Clathrin adaptor, mu subunit, C-terminal (3);	0.119066	0.56097	D	0.000037	T	0.62950	0.2470	H	0.97315	3.98	0.54753	D	0.999986	P;B	0.47034	0.889;0.065	P;B	0.55222	0.771;0.093	T	0.73040	-0.4108	10	0.87932	D	0	-44.2162	11.4368	0.50072	0.8485:0.1515:0.0:0.0	.	198;198	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	T	198	ENSP00000250244:I198T	ENSP00000250244:I198T	I	-	2	0	AP1M2	10553022	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.284000	0.95882	0.832000	0.34804	0.449000	0.29647	ATC		0.562	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			G	10692022	A	G	10692022	3	3	43	1	0	0	0	0	1	0	0	0	735	333	12	4	706	4	AP1M2	19	10692022	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	214899	10692022	48436961	910	4087											
ILF3	3609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	10794618	10794618	+	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	gggtatggaagctatgggtaCggaggcaactcggcgacagc	10	6	17	8	3	0	0	0	0	0	0	1	3	0	2	0	6	4	4	0	6	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10794618C>T	ENST00000590261.1	+	16	2031	c.2031C>T	c.(2029-2031)taC>taT	p.Y677Y	ILF3_ENST00000407004.3_Silent_p.Y681Y|ILF3_ENST00000449870.1_Silent_p.Y681Y|ILF3_ENST00000420083.1_Silent_p.Y677Y|ILF3_ENST00000589998.1_Silent_p.Y677Y|ILF3_ENST00000592763.1_Silent_p.Y681Y|ILF3_ENST00000588657.1_Silent_p.Y681Y|ILF3_ENST00000318511.3_Silent_p.Y677Y|ILF3_ENST00000250241.8_Silent_p.Y677Y			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	677	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)			GCTATGGGTACGGAGGCAACT	0.582																																						.											0													169	139	149					19																	10794618		2203	4300	6503	SO:0001819	synonymous_variant	3609			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.2031C>T	19.37:g.10794618C>T			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																																																																																				0.582	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			T	10794618	C	T	10794618	2	4	43	1	0	0	0	0	0	0	0	1	7712	547	19	1		1	ILF3	19	10794618	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	102596	10794618	48334365	911	4088											
QTRT1	81890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	10818003	10818003	+	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	gacatcatcatgcagctggaCgacgtggttagcagtactgt	10	10	12	9	2	2	0	2	0	0	0	2	3	2	1	0	2	4	5	0	2	2	2	rs151104617		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10818003C>T	ENST00000250237.5	+	4	487	c.477C>T	c.(475-477)gaC>gaT	p.D159D	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	159					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGCAGCTGGACGACGTGGTTA	0.567																																						.											0								C		1,4405	2.1+/-5.4	0,1,2202	334	247	277		477	-3.2	0.3	19	dbSNP_134	277	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	QTRT1	NM_031209.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		159/404	10818003	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.477C>T	19.37:g.10818003C>T			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	ENST00000250237.5	37	CCDS12248.1																																																																																				0.567	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		T	10818003	C	T	10818003	2	4	43	1	0	0	0	0	0	0	0	1	12885	535	19	1		1	QTRT1	19	10818003	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	23385	10818003	48310980	912	4089											
TMEM205	374882	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	11453630	11453630	+	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	tgtacttggggtccttctctCgcagctggcggtagggatcg	4	12	15	10	3	1	0	0	0	1	0	5	1	2	1	1	5	2	4	1	5	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11453630C>T	ENST00000354882.5	-	3	857	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	TMEM205_ENST00000586956.1_Missense_Mutation_p.R144Q|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000588560.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000586590.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000447337.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000586218.1_Missense_Mutation_p.R83Q|TMEM205_ENST00000587948.1_Missense_Mutation_p.R144Q|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000593256.2_Missense_Mutation_p.R144Q			Q6UW68	TM205_HUMAN	transmembrane protein 205	144						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GTCCTTCTCTCGCAGCTGGCG	0.622																																						.											0													99	89	93					19																	11453630		2203	4300	6503	SO:0001583	missense	374882			AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.431G>A	19.37:g.11453630C>T	ENSP00000346954:p.Arg144Gln			Missense_Mutation	SNP	ENST00000354882.5	37	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582875	0.28268	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.96	0.39	0.16275	.	0.078138	0.51477	U	0.000099	T	0.44329	0.1288	L	0.55103	1.725	0.37141	D	0.90169	B	0.11235	0.004	B	0.09377	0.004	T	0.33420	-0.9869	9	0.13108	T	0.6	-15.8945	8.4711	0.32986	0.0:0.5096:0.0:0.4904	.	144	Q6UW68	TM205_HUMAN	Q	144	.	ENSP00000346954:R144Q	R	-	2	0	TMEM205	11314630	0.258000	0.24033	0.360000	0.25837	0.555000	0.35460	0.735000	0.26115	0.001000	0.14605	-0.768000	0.03414	CGA		0.622	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		T	11453630	C	T	11453630	3	4	43	1	0	0	0	0	1	0	0	0	16127	884	31	1	142	1	TMEM205	19	11453630	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	635627	11453630	47675353	913	4090											
ELAVL3	1995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	11568980	11568980	+	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	gtcttctgacttgggttgttCgcgaacttgactgtgatggg	5	15	14	7	2	2	3	0	3	2	0	3	4	2	3	0	2	1	2	0	2	1	5	rs547655016		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11568980C>T	ENST00000359227.3	-	5	1033	c.609G>A	c.(607-609)gcG>gcA	p.A203A	ELAVL3_ENST00000438662.2_Silent_p.A203A	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	203	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.A203A(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGTTGTTCGCGAACTTGA	0.602													C|||	1	0.000199681	0	0	5008	,	,		17572	0		0.001	False		,,,				2504	0					.											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											88	77	81					19																	11568980		2203	4300	6503	SO:0001819	synonymous_variant	1995				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.609G>A	19.37:g.11568980C>T			Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	CCDS32912.1																																																																																				0.602	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		T	11568980	C	T	11568980	2	4	43	1	0	0	0	0	0	0	0	1	5051	871	31	1		1	ELAVL3	19	11568980	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	115350	11568980	47560003	914	4091											
ZNF653	115950	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	11598527	11598527	+	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	ctgctcggccaggctttccaCgtggtggacgtcaaagggaa	8	8	14	11	3	1	0	1	0	0	0	3	2	2	2	2	5	1	2	2	5	2	1	rs140179197	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11598527C>T	ENST00000293771.5	-	4	887	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGGCTTTCCACGTGGTGGACG	0.687													C|||	9	0.00179712	8e-04	0.0014	5008	,	,		12948	0		0.005	False		,,,				2504	0.002				Pancreas(83;980 1446 4542 6441 43352)	.											0								C	MET/VAL	17,4389	21.2+/-45.6	0,17,2186	52	49	50		751	3.2	1	19	dbSNP_134	50	46,8554	28.5+/-78.6	0,46,4254	yes	missense	ZNF653	NM_138783.3	21	0,63,6440	TT,TC,CC		0.5349,0.3858,0.4844	benign	251/616	11598527	63,12943	2203	4300	6503	SO:0001583	missense	115950			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.751G>A	19.37:g.11598527C>T	ENSP00000293771:p.Val251Met		Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	9.411	1.080482	0.20309	0.003858	0.005349	ENSG00000161914	ENST00000293771	T	0.11169	2.8	4.49	3.2	0.36748	.	0.848002	0.10512	N	0.665997	T	0.03220	0.0094	N	0.03608	-0.345	0.32087	N	0.592312	B	0.22211	0.066	B	0.12156	0.007	T	0.07009	-1.0795	10	0.56958	D	0.05	-30.1147	6.9266	0.24418	0.0:0.7833:0.0:0.2167	.	251	Q96CK0	ZN653_HUMAN	M	251	ENSP00000293771:V251M	ENSP00000293771:V251M	V	-	1	0	ZNF653	11459527	0.988000	0.35896	0.998000	0.56505	0.571000	0.35966	0.664000	0.25068	2.210000	0.71456	0.561000	0.74099	GTG		0.687	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		T	11598527	C	T	11598527	3	4	43	1	0	0	0	0	1	0	0	0	18063	536	19	1	1120	1	ZNF653	19	11598527	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	29547	11598527	47530456	915	4092											
ZNF441	126068	broad.mit.edu	37	chr19	11891522	11891522	+	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	cattttatcatcttggaagcTttcaaagacacatgatagtg	13	14	7	7	0	3	2	2	1	1	1	3	3	3	3	0	1	1	1	0	1	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11891522T>G	ENST00000357901.4	+	4	985	c.883T>G	c.(883-885)Ttt>Gtt	p.F295V	ZNF441_ENST00000454339.2_Missense_Mutation_p.F228V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						TCTTGGAAGCTTTCAAAGACA	0.393																																						.											0													100	101	101					19																	11891522		2203	4300	6503	SO:0001583	missense	126068			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.883T>G	19.37:g.11891522T>G	ENSP00000350576:p.Phe295Val			Missense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	14.82	2.650710	0.47362	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.18338	2.22;2.22	0.998	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13415	0.0325	L	0.33189	0.99	0.09310	N	1	B	0.28713	0.22	B	0.34652	0.187	T	0.35574	-0.9783	9	0.72032	D	0.01	.	6.5207	0.22272	0.0:0.4892:0.0:0.5108	.	295	Q8N8Z8	ZN441_HUMAN	V	251;295;228	ENSP00000350576:F295V;ENSP00000403738:F228V	ENSP00000350576:F295V	F	+	1	0	ZNF441	11752522	0.000000	0.05858	0.005000	0.12908	0.776000	0.43924	-0.479000	0.06567	-0.701000	0.05063	0.248000	0.18094	TTT		0.393	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		G	11891522	T	G	11891522	3	3	43	1	0	0	0	0	1	0	0	0	17911	1609	56	5	897	5	ZNF441	19	11891522	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	292995	11891522	47237461	916	4093											
ZNF441	126068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	11892622	11892622	+	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	cccagtgcctttcataaacaTgaaaggacccacagtatgga	14	8	8	11	0	1	1	1	1	0	0	1	3	1	3	3	2	2	1	3	2	4	3	rs376601123		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11892622T>C	ENST00000357901.4	+	4	2085	c.1983T>C	c.(1981-1983)caT>caC	p.H661H	ZNF441_ENST00000454339.2_Silent_p.H594H	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	661					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						TTCATAAACATGAAAGGACCC	0.388																																						.											0								T		1,4405	2.1+/-5.4	0,1,2202	70	74	73		1983	0.1	0	19		73	0,8600		0,0,4300	no	coding-synonymous	ZNF441	NM_152355.2		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		661/694	11892622	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126068			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.1983T>C	19.37:g.11892622T>C				Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																				0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		C	11892622	T	C	11892622	2	2	43	1	0	0	0	0	0	0	0	1	17911	1461	51	4		4	ZNF441	19	11892622	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1100	11892622	47236361	917	4094											
ZNF878	729747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	12155144	12155144	+	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	ctctccagtgtgtgtcctttCatgtattcgaagatccttga	7	16	8	10	1	2	2	1	1	1	1	6	3	4	2	3	0	0	1	3	0	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12155144C>T	ENST00000547628.1	-	4	1209	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ZNF878_ENST00000602107.1_Missense_Mutation_p.E405K|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	358					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGTGTCCTTTCATGTATTCGA	0.388																																						.											0													46	51	49					19																	12155144		2194	4296	6490	SO:0001583	missense	729747				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1072G>A	19.37:g.12155144C>T	ENSP00000447931:p.Glu358Lys			Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939478	0.34189	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07327	3.2	1.29	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	L	0.28014	0.82	0.09310	N	1	P	0.45283	0.855	P	0.46850	0.529	T	0.35375	-0.9791	9	0.26408	T	0.33	.	4.3632	0.11211	0.0:0.2994:0.4899:0.2107	.	358	C9JN71	ZN878_HUMAN	K	358;405	ENSP00000447931:E358K	ENSP00000447931:E358K	E	-	1	0	AC022415.4;ZNF878	12016144	0.000000	0.05858	0.001000	0.08648	0.520000	0.34377	-0.192000	0.09587	-0.128000	0.11641	0.305000	0.20034	GAA		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		T	12155144	C	T	12155144	3	4	43	1	0	0	0	0	1	0	0	0	18193	835	29	4	527	4	ZNF878	19	12155144	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	262522	12155144	46973839	918	4095											
ZNF799	90576	bcgsc.ca	37	chr19	12502787	12502787	+	Missense_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	ctttcccacgttgtttatgcGtatctggcttctctccacat	5	17	6	13	2	2	0	0	0	2	0	5	0	4	0	2	1	1	4	2	1	2	6	rs12974755	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12502787G>A	ENST00000430385.3	-	4	625	c.425C>T	c.(424-426)aCg>aTg	p.T142M	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.T142M|ZNF799_ENST00000419318.1_Missense_Mutation_p.T110M	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	142					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						TTGTTTATGCGTATCTGGCTT	0.423													G|||	443	0.0884585	0.0174	0.0793	5008	,	,		22280	0.0585		0.1501	False		,,,				2504	0.1585					.											0								G	MET/THR	191,4215	123.7+/-161.0	5,181,2017	163	154	158		425	-0.8	0	19	dbSNP_121	158	1319,7281	260.2+/-283.1	101,1117,3082	no	missense	ZNF799	NM_001080821.2	81	106,1298,5099	AA,AG,GG		15.3372,4.335,11.61	possibly-damaging	142/644	12502787	1510,11496	2203	4300	6503	SO:0001583	missense	90576			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.425C>T	19.37:g.12502787G>A	ENSP00000411084:p.Thr142Met			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	185	0.08470695970695971	11	0.022357723577235773	33	0.09116022099447514	26	0.045454545454545456	115	0.1517150395778364	G	11.07	1.529300	0.27387	0.04335	0.153372	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08458	3.09;3.22	1.0	-0.771	0.11002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	M	0.64997	1.995	0.80722	P	0.0	D	0.65815	0.995	P	0.54060	0.741	T	0.16041	-1.0416	8	0.72032	D	0.01	.	6.2771	0.20987	0.0:0.0:0.6435:0.3565	rs12974755	142	Q96GE5	ZN799_HUMAN	M	110;142	ENSP00000415278:T110M;ENSP00000411084:T142M	ENSP00000415278:T110M	T	-	2	0	ZNF799	12363787	0.001000	0.12720	0.005000	0.12908	0.287000	0.27160	-0.024000	0.12435	-0.311000	0.08754	0.430000	0.28490	ACG		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		A	12502787	G	A	12502787	3	1	43	1	0	0	0	0	1	0	0	0	18163	1145	40	1	1510	1	ZNF799	19	12502787	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	347643	12502787	46626196	919	4096											
ZNF709	163051	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	12574914	12574914	+	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	tttctctccagtgtgagttcGttcatggattcgaaaggaac	9	14	10	8	2	2	1	1	1	1	0	6	4	3	3	1	2	1	2	1	2	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12574914G>A	ENST00000397732.3	-	4	1993	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Nonsense_Mutation_p.R608*	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTGTGAGTTCGTTCATGGATT	0.428																																					GBM(33;565 669 12371 29134 51667)	.											0													139	149	145					19																	12574914		2203	4300	6503	SO:0001587	stop_gained	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1822C>T	19.37:g.12574914G>A	ENSP00000380840:p.Arg608*		A8K4E6	Nonsense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	g	38	6.779989	0.97833	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	.	.	.	2.79	-0.572	0.11745	.	.	.	.	.	.	.	.	.	.	.	0.42414	D	0.992616	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2002	0.15260	0.0:0.211:0.1661:0.6228	.	.	.	.	X	608	.	ENSP00000404127:R608X	R	-	1	2	ZNF709;CTD-2192J16.17	12435914	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.742000	0.04850	-0.192000	0.10432	-1.077000	0.02231	CGA		0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		A	12574914	G	A	12574914	4	1	43	1	0	0	0	0	0	1	0	0	18110	1153	40	1	107	1	ZNF709	19	12574914	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	72127	12574914	46554069	920	4097											
TNPO2	30000	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	12812988	12812988	+	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	tggcagagggactcgtcaggCgacctgcaaccccgagcggc	8	4	15	14	4	1	1	1	0	0	1	2	4	1	2	3	4	3	2	3	4	1	0	rs368882556		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12812988C>T	ENST00000592287.1	-	21	2417	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	TNPO2_ENST00000356861.5_Intron|TNPO2_ENST00000425528.1_Missense_Mutation_p.R770H|TNPO2_ENST00000441499.1_Intron|TNPO2_ENST00000450764.2_Intron|TNPO2_ENST00000588216.1_Intron	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	770					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						ACTCGTCAGGCGACCTGCAAC	0.682																																						.											0								C	,HIS/ARG,	0,4222		0,0,2111	30	37	35		,2309,	3.1	1	19		35	1,8433		0,1,4216	no	intron,missense,intron	TNPO2	NM_001136195.1,NM_001136196.1,NM_013433.4	,29,	0,1,6327	TT,TC,CC		0.0119,0.0,0.0079	,benign,	,770/898,	12812988	1,12655	2111	4217	6328	SO:0001583	missense	30000			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.2309G>A	19.37:g.12812988C>T	ENSP00000468434:p.Arg770His		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460680	0.43736	0.0	1.19E-4	ENSG00000105576	ENST00000425528;ENST00000450764	T	0.22945	1.93	5.26	3.08	0.35506	Armadillo-like helical (1);Armadillo-type fold (1);	0.554792	0.17271	N	0.180376	T	0.08980	0.0222	N	0.14661	0.345	0.80722	D	1	P	0.46457	0.878	B	0.21360	0.034	T	0.24154	-1.0168	9	.	.	.	-17.3437	7.4918	0.27466	0.1649:0.7487:0.0:0.0864	.	770	O14787	TNPO2_HUMAN	H	770	ENSP00000407182:R770H	.	R	-	2	0	TNPO2	12673988	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.150000	0.31639	0.563000	0.29222	0.561000	0.74099	CGC		0.682	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12812988	C	T	12812988	3	4	43	1	0	0	0	0	1	0	0	0	16333	768	27	1	400	1	TNPO2	19	12812988	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	238074	12812988	46315995	921	4098											
BEST2	54831	broad.mit.edu	37	chr19	12865478	12865478	+	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	gtgcacggacgcgacgaccgCggccgcctctaccggcgcac	6	3	14	18	9	1	0	0	0	1	0	1	3	1	1	4	3	2	2	4	3	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12865478C>T	ENST00000549706.1	+	4	684	c.360C>T	c.(358-360)cgC>cgT	p.R120R	BEST2_ENST00000553030.1_Silent_p.R120R|BEST2_ENST00000042931.1_Silent_p.R120R			Q8NFU1	BEST2_HUMAN	bestrophin 2	120					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						GCGACGACCGCGGCCGCCTCT	0.697																																						.											0													11	12	12					19																	12865478		2086	4168	6254	SO:0001819	synonymous_variant	54831			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.360C>T	19.37:g.12865478C>T			Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	CCDS42506.1																																																																																				0.697	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		T	12865478	C	T	12865478	2	4	43	1	0	0	0	0	0	0	0	1	1405	755	27	1		1	BEST2	19	12865478	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	52490	12865478	46263505	922	4099											
NFIX	4784	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	13183866	13183866	+	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	ttgtgtctcctgcagaatccGgacaatcagatagttcaaac	12	11	8	10	1	3	2	2	0	1	2	5	3	4	3	2	1	2	2	2	1	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13183866G>A	ENST00000592199.1	+	3	565	c.565G>A	c.(565-567)Gga>Aga	p.G189R	NFIX_ENST00000397661.2_Missense_Mutation_p.G189R|NFIX_ENST00000358552.3_Missense_Mutation_p.G188R|NFIX_ENST00000360105.4_Missense_Mutation_p.G192R|NFIX_ENST00000585575.1_Missense_Mutation_p.G181R|NFIX_ENST00000588228.1_Missense_Mutation_p.G142R|AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000587760.1_Missense_Mutation_p.G181R|NFIX_ENST00000587260.1_Missense_Mutation_p.G188R			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	189					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)			TGCAGAATCCGGACAATCAGA	0.557																																						.											0													138	139	139					19																	13183866		2015	4165	6180	SO:0001583	missense	4784			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.565G>A	19.37:g.13183866G>A	ENSP00000467512:p.Gly189Arg		B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.480896	0.84747	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.45276	0.91;0.9	4.59	4.59	0.56863	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	L	0.55481	1.735	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;0.999;1.0	T	0.59177	-0.7503	10	0.48119	T	0.1	.	14.6799	0.69009	0.0:0.0:1.0:0.0	.	197;188;192;189;189	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	R	189;189;192;142;188	ENSP00000380781:G189R;ENSP00000351354:G188R	ENSP00000264825:G192R	G	+	1	0	NFIX	13044866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.228000	0.89789	2.280000	0.76307	0.462000	0.41574	GGA		0.557	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		A	13183866	G	A	13183866	3	1	43	1	0	0	0	0	1	0	0	0	10374	1117	39	1	575	1	NFIX	19	13183866	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	318388	13183866	45945117	923	4100											
NFIX	4784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	13186460	13186460	+	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	gctggcagcagccagtccagCgggtggcccaacgatgtgga	8	5	16	12	2	0	0	0	0	0	0	1	2	1	1	3	4	4	3	3	4	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13186460C>T	ENST00000592199.1	+	6	930	c.930C>T	c.(928-930)agC>agT	p.S310S	NFIX_ENST00000397661.2_Silent_p.S310S|NFIX_ENST00000358552.3_Silent_p.S309S|NFIX_ENST00000360105.4_Silent_p.S313S|NFIX_ENST00000585575.1_Silent_p.S302S|NFIX_ENST00000588228.1_Silent_p.S263S|NFIX_ENST00000587760.1_Silent_p.S302S|NFIX_ENST00000587260.1_Silent_p.S309S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	310					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)			GCCAGTCCAGCGGGTGGCCCA	0.607																																						.											0													26	32	30					19																	13186460		2038	4192	6230	SO:0001819	synonymous_variant	4784			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.930C>T	19.37:g.13186460C>T			B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37																																																																																					0.607	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		T	13186460	C	T	13186460	2	4	43	1	0	0	0	0	0	0	0	1	10374	767	27	1		1	NFIX	19	13186460	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2594	13186460	45942523	924	4101											
NACC1	112939	broad.mit.edu;bcgsc.ca	37	chr19	13248350	13248350	+	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	cttctaccaacgatccccgtCggaagcccctggacagccgc	8	6	9	18	4	1	0	0	0	1	0	3	3	2	2	6	2	4	0	6	2	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13248350C>T	ENST00000292431.4	+	5	1411	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	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	429	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				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						CGATCCCCGTCGGAAGCCCCT	0.652																																						.											0													17	17	17					19																	13248350		2199	4290	6489	SO:0001583	missense	112939			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.1285C>T	19.37:g.13248350C>T	ENSP00000292431:p.Arg429Trp			Missense_Mutation	SNP	ENST00000292431.4	37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097309	0.56075	.	.	ENSG00000160877	ENST00000292431	T	0.49139	0.79	4.33	4.33	0.51752	BEN domain (2);	0.061313	0.64402	D	0.000013	T	0.50240	0.1604	N	0.19112	0.55	0.47698	D	0.999499	D	0.89917	1.0	D	0.79784	0.993	T	0.54091	-0.8345	10	0.87932	D	0	.	9.6254	0.39748	0.2084:0.7916:0.0:0.0	.	429	Q96RE7	NACC1_HUMAN	W	429	ENSP00000292431:R429W	ENSP00000292431:R429W	R	+	1	2	NACC1	13109350	0.964000	0.33143	0.997000	0.53966	0.081000	0.17604	2.266000	0.43320	2.267000	0.75376	0.555000	0.69702	CGG		0.652	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		T	13248350	C	T	13248350	3	4	43	1	0	0	0	0	1	0	0	0	10135	875	31	1	1299	1	NACC1	19	13248350	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	61890	13248350	45880633	925	4102											
ZSWIM4	65249	mdanderson.org	37	chr19	13936443	13936443	+	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	gccctgctctttaagctggcGcaggacgcctgcaagacagc	8	7	12	14	2	1	1	0	0	1	1	1	2	1	2	2	2	4	4	2	2	2	2	rs202144110	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13936443G>A	ENST00000254323.2	+	11	2133	c.1944G>A	c.(1942-1944)gcG>gcA	p.A648A	ZSWIM4_ENST00000440752.2_Silent_p.A482A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	648							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)			TTAAGCTGGCGCAGGACGCCT	0.662													G|||	3	0.000599042	0	0.0043	5008	,	,		15695	0		0	False		,,,				2504	0					.											0								G		0,4406		0,0,2203	63	65	65		1944	-7.8	0.9	19		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZSWIM4	NM_023072.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		648/990	13936443	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65249			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.1944G>A	19.37:g.13936443G>A				Silent	SNP	ENST00000254323.2	37	CCDS32924.1																																																																																				0.662	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		A	13936443	G	A	13936443	2	1	43	1	0	0	0	0	0	0	0	1	18240	1074	38	1		1	ZSWIM4	19	13936443	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	688093	13936443	45192540	926	4103											
LPHN1	22859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	14268815	14268815	+	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	accagtagcccagcatggaaCgctccgagtagttccagaag	12	6	11	12	2	0	1	0	0	0	1	2	3	2	2	4	1	3	5	4	1	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:14268815C>T	ENST00000340736.6	-	14	2726	c.2429G>A	c.(2428-2430)cGt>cAt	p.R810H	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R805H|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	810	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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						CAGCATGGAACGCTCCGAGTA	0.567																																						.											0													202	161	175					19																	14268815		2203	4300	6503	SO:0001583	missense	22859			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.2429G>A	19.37:g.14268815C>T	ENSP00000340688:p.Arg810His		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126719	0.37533	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.70631	-0.5;-0.5	4.73	4.73	0.59995	GPS domain (3);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.41961	1.31	0.50632	D	0.999883	P;P	0.42203	0.74;0.773	P;P	0.47015	0.479;0.534	T	0.73757	-0.3882	10	0.56958	D	0.05	.	15.5416	0.76052	0.0:1.0:0.0:0.0	.	805;810	O94910-2;O94910	.;LPHN1_HUMAN	H	810;805	ENSP00000340688:R810H;ENSP00000355328:R805H	ENSP00000340688:R810H	R	-	2	0	LPHN1	14129815	1.000000	0.71417	0.918000	0.36340	0.417000	0.31264	4.920000	0.63390	2.339000	0.79563	0.561000	0.74099	CGT		0.567	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		T	14268815	C	T	14268815	3	4	43	1	0	0	0	0	1	0	0	0	8915	536	19	1	2039	1	LPHN1	19	14268815	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	332372	14268815	44860168	927	4104											
LPHN1	22859	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	14273936	14273936	+	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	ggtcatacttgacgatgttgCgcgtgcgctccttgttgtag	5	14	13	9	4	1	1	1	1	0	0	2	2	2	1	1	1	3	4	1	1	2	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:14273936C>T	ENST00000340736.6	-	6	989	c.692G>A	c.(691-693)cGc>cAc	p.R231H	LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Missense_Mutation_p.R226H|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	231	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						GACGATGTTGCGCGTGCGCTC	0.622																																						.											0													145	100	115					19																	14273936		2203	4300	6503	SO:0001583	missense	22859			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.692G>A	19.37:g.14273936C>T	ENSP00000340688:p.Arg231His		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983472	0.93044	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.90069	-2.61;-2.61	4.8	4.8	0.61643	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.94657	0.7844	10	0.87932	D	0	.	15.3705	0.74560	0.0:1.0:0.0:0.0	.	226;231	O94910-2;O94910	.;LPHN1_HUMAN	H	231;226	ENSP00000340688:R231H;ENSP00000355328:R226H	ENSP00000340688:R231H	R	-	2	0	LPHN1	14134936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.749000	0.85096	2.204000	0.70986	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		T	14273936	C	T	14273936	3	4	43	1	0	0	0	0	1	0	0	0	8915	768	27	1	3808	1	LPHN1	19	14273936	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	5121	14273936	44855047	928	4105											
SLC1A6	6511	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	15063793	15063793	+	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	tcttccgtgggcaagccgacCgacgtaagcacaatgaccat	11	7	10	13	4	1	1	0	1	1	0	2	3	2	1	4	1	2	3	4	1	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15063793C>T	ENST00000221742.3	-	8	1453	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	SLC1A6_ENST00000430939.2_Silent_p.S418S|SLC1A6_ENST00000600144.1_Silent_p.S404S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	482					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCAAGCCGACCGACGTAAGCA	0.612																																						.											0													189	149	162					19																	15063793		2203	4300	6503	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1446G>A	19.37:g.15063793C>T			Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1																																																																																				0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		T	15063793	C	T	15063793	2	4	43	1	0	0	0	0	0	0	0	1	14436	639	23	1		1	SLC1A6	19	15063793	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	789857	15063793	44065190	929	4106											
NOTCH3	4854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	15297722	15297722	+	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	ttggcagacacagtcgtagcGgttgatgccatcacggcaga	10	8	13	10	3	1	3	1	1	0	2	2	3	1	3	1	3	2	4	1	3	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15297722G>A	ENST00000263388.2	-	12	1993	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	640	EGF-like 16; 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)			CAGTCGTAGCGGTTGATGCCA	0.582																																						.											0													106	82	90					19																	15297722		2203	4300	6503	SO:0001583	missense	4854			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.1918C>T	19.37:g.15297722G>A	ENSP00000263388:p.Arg640Cys		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794432	0.70452	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95137	-3.62	4.52	3.45	0.39498	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.96040	0.8710	M	0.72479	2.2	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.956;0.987	D	0.95023	0.8162	9	0.56958	D	0.05	.	8.8859	0.35402	0.0:0.1636:0.6673:0.1691	.	643;640	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	640;642	ENSP00000263388:R640C	ENSP00000263388:R640C	R	-	1	0	NOTCH3	15158722	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.750000	0.26334	0.979000	0.38497	0.655000	0.94253	CGC		0.582	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15297722	G	A	15297722	3	1	43	1	0	0	0	0	1	0	0	0	10550	1116	39	1	5135	1	NOTCH3	19	15297722	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	233929	15297722	43831261	930	4107											
CYP4F3	4051	broad.mit.edu	37	chr19	15752327	15752327	+	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	tcctggctcctggcccgcatCctggcctggacctatacctt	4	11	9	17	1	0	0	0	0	0	0	3	1	3	1	7	4	1	2	7	4	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15752327C>A	ENST00000221307.8	+	2	149	c.102C>A	c.(100-102)atC>atA	p.I34I	CYP4F3_ENST00000585846.1_Silent_p.I34I|CYP4F3_ENST00000586182.2_Silent_p.I34I|CYP4F3_ENST00000591058.1_Silent_p.I34I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	34					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCCGCATCCTGGCCTGGA	0.637																																						.											0													60	63	62					19																	15752327		2203	4300	6503	SO:0001819	synonymous_variant	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.102C>A	19.37:g.15752327C>A			B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	CCDS12332.1																																																																																				0.637	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15752327	C	A	15752327	2	1	43	1	0	0	0	0	0	0	0	1	4190	845	30	5		5	CYP4F3	19	15752327	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	454605	15752327	43376656	931	4108											
AP1M1	8907	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	16345014	16345014	+	Missense_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	gctacctgtgccccaggtgcGctacctgaagatcattgaga	9	9	11	12	1	1	3	1	2	0	2	1	4	1	3	4	1	4	2	4	1	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:16345014G>A	ENST00000291439.3	+	11	1627	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	AP1M1_ENST00000429941.2_Missense_Mutation_p.R340H|AP1M1_ENST00000590756.1_Missense_Mutation_p.R321H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R405H|AP1M1_ENST00000541844.1_Missense_Mutation_p.R321H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	393	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						CCCCAGGTGCGCTACCTGAAG	0.647																																						.											0													63	56	58					19																	16345014		2203	4300	6503	SO:0001583	missense	8907				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.1178G>A	19.37:g.16345014G>A	ENSP00000291439:p.Arg393His		Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657095	0.88154	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	3.58	3.58	0.41010	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.93978	3.48	0.80722	D	1	D;P;P	0.57899	0.981;0.864;0.864	P;P;P	0.54312	0.748;0.458;0.458	T	0.66771	-0.5839	10	0.72032	D	0.01	-29.6875	14.7335	0.69399	0.0:0.0:1.0:0.0	.	340;405;393	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	H	405;393;321;340	ENSP00000388996:R405H;ENSP00000291439:R393H;ENSP00000445682:R321H;ENSP00000411498:R340H	ENSP00000291439:R393H	R	+	2	0	AP1M1	16206014	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.354000	0.97083	2.017000	0.59298	0.561000	0.74099	CGC		0.647	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		A	16345014	G	A	16345014	3	1	43	1	0	0	0	0	1	0	0	0	734	1087	38	1	1260	1	AP1M1	19	16345014	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	592687	16345014	42783969	932	4109											
SIN3B	23309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	16976291	16976291	+	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	tgtgcagaagaagctatctcGgatggcgccggaagaccagg	11	6	15	9	3	1	3	0	0	1	3	2	5	1	5	2	4	2	2	2	4	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:16976291G>A	ENST00000248054.5	+	11	1475	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	SIN3B_ENST00000595541.1_Missense_Mutation_p.R75Q|SIN3B_ENST00000379803.1_Missense_Mutation_p.R517Q					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGCTATCTCGGATGGCGCCG	0.582																																						.											0													88	78	81					19																	16976291		2203	4300	6503	SO:0001583	missense	23309			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.1454G>A	19.37:g.16976291G>A	ENSP00000248054:p.Arg485Gln			Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.934950	0.73442	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.47869	0.86;0.83	4.77	4.77	0.60923	Histone deacetylase interacting (2);	0.054954	0.85682	D	0.000000	T	0.58623	0.2135	L	0.55103	1.725	0.80722	D	1	P;P;D	0.59357	0.928;0.603;0.985	P;B;P	0.56751	0.54;0.265;0.805	T	0.55095	-0.8194	10	0.27082	T	0.32	-13.5955	17.85	0.88744	0.0:0.0:1.0:0.0	.	75;485;517	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	Q	517;485	ENSP00000369131:R517Q;ENSP00000248054:R485Q	ENSP00000248054:R485Q	R	+	2	0	SIN3B	16837291	1.000000	0.71417	0.728000	0.30774	0.473000	0.32948	7.776000	0.85560	2.205000	0.71048	0.456000	0.33151	CGG		0.582	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		A	16976291	G	A	16976291	3	1	43	1	0	0	0	0	1	0	0	0	14326	1116	39	1	1596	1	SIN3B	19	16976291	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	631277	16976291	42152692	933	4110											
HAPLN4	404037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	19369385	19369385	+	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	agcgttcctcggcgttatggCgatacccgtagttgcgcagg	6	10	14	11	6	0	0	0	0	0	0	2	1	1	0	2	3	3	5	2	3	3	5	rs372695408		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:19369385C>T	ENST00000291481.7	-	4	827	c.764G>A	c.(763-765)cGc>cAc	p.R255H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	255	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GGCGTTATGGCGATACCCGTA	0.701																																						.											0								C	HIS/ARG	0,4406		0,0,2203	75	61	66		764	4	0.7	19		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAPLN4	NM_023002.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	255/403	19369385	1,13005	2203	4300	6503	SO:0001583	missense	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.764G>A	19.37:g.19369385C>T	ENSP00000291481:p.Arg255His		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435566	0.83885	0.0	1.16E-4	ENSG00000187664	ENST00000291481	T	0.14144	2.53	3.97	3.97	0.46021	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.071699	0.50627	D	0.000116	T	0.48995	0.1531	H	0.95539	3.685	0.46222	D	0.99893	D	0.89917	1.0	D	0.79784	0.993	T	0.66516	-0.5904	10	0.72032	D	0.01	-25.3078	14.7601	0.69600	0.0:1.0:0.0:0.0	.	255	Q86UW8	HPLN4_HUMAN	H	255	ENSP00000291481:R255H	ENSP00000291481:R255H	R	-	2	0	HAPLN4	19230385	0.996000	0.38824	0.692000	0.30179	0.636000	0.38137	3.440000	0.52886	2.055000	0.61198	0.313000	0.20887	CGC		0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		T	19369385	C	T	19369385	3	4	43	1	0	0	0	0	1	0	0	0	6957	768	27	1	452	1	HAPLN4	19	19369385	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2393094	19369385	39759598	934	4111											
ZNF737	100129842	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	20735292	20735292	+	Missense_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	tgcacctacctgaggggttgGctaccatctcatgtttcttc	6	14	9	12	0	2	1	1	1	2	0	4	1	2	1	3	3	3	4	3	3	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:20735292G>A	ENST00000427401.4	-	3	309	c.215C>T	c.(214-216)gCc>gTc	p.A72V	ZNF737_ENST00000596797.1_Missense_Mutation_p.A72V|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGAGGGGTTGGCTACCATCTC	0.413																																						.											0													163	135	143					19																	20735292		692	1591	2283	SO:0001583	missense	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.215C>T	19.37:g.20735292G>A	ENSP00000395733:p.Ala72Val		C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	g	5.004	0.186380	0.09495	.	.	ENSG00000237440	ENST00000427401	T	0.06933	3.24	0.118	0.118	0.14667	.	.	.	.	.	T	0.11024	0.0269	L	0.43701	1.375	0.09310	N	1	P	0.40376	0.715	P	0.47827	0.558	T	0.26395	-1.0104	8	0.49607	T	0.09	.	.	.	.	.	72	C9JHM3	.	V	72	ENSP00000395733:A72V	ENSP00000395733:A72V	A	-	2	0	ZNF737	20527132	0.879000	0.30193	0.005000	0.12908	0.005000	0.04900	1.348000	0.33987	0.191000	0.20236	0.194000	0.17425	GCC		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		A	20735292	G	A	20735292	3	1	43	1	0	0	0	0	1	0	0	0	18123	1203	42	3	1403	3	ZNF737	19	20735292	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1365907	20735292	38393691	935	4112											
ANKRD27	84079	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	33137475	33137475	+	Missense_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	tgggcactgagagaagacagGcaaaaccagctcctaattta	15	7	10	9	0	0	3	0	1	0	2	1	4	1	3	2	2	2	3	2	2	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:33137475G>A	ENST00000306065.4	-	4	418	c.260C>T	c.(259-261)gCc>gTc	p.A87V	ANKRD27_ENST00000587352.1_Missense_Mutation_p.A87V	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	87					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGAAGACAGGCAAAACCAGC	0.443																																						.											0													85	86	86					19																	33137475		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.260C>T	19.37:g.33137475G>A	ENSP00000304292:p.Ala87Val		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068697	0.76301	.	.	ENSG00000105186	ENST00000306065	T	0.62364	0.03	5.13	4.03	0.46877	.	0.390695	0.22004	N	0.065963	T	0.55721	0.1938	L	0.36672	1.1	0.27654	N	0.947297	P	0.44195	0.828	B	0.44163	0.443	T	0.56926	-0.7898	10	0.62326	D	0.03	-17.2719	13.01	0.58725	0.0:0.0:0.7561:0.2439	.	87	Q96NW4	ANR27_HUMAN	V	87	ENSP00000304292:A87V	ENSP00000304292:A87V	A	-	2	0	ANKRD27	37829315	0.776000	0.28616	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	2.409000	0.81822	0.545000	0.68477	GCC		0.443	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		A	33137475	G	A	33137475	3	1	43	1	0	0	0	0	1	0	0	0	655	1203	42	3	2996	3	ANKRD27	19	33137475	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	12402183	33137475	25991508	936	4113											
WDR88	126248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	33666433	33666433	+	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	tcatcgtcatcatcatcatcGgaaagggagaactcaccgcc	12	8	8	13	3	6	1	6	0	0	1	8	3	6	2	2	2	1	0	2	2	2	0	rs145406953	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:33666433G>A	ENST00000355868.3	+	11	1450	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	AC008738.2_ENST00000577275.1_RNA|WDR88_ENST00000361680.2_3'UTR|CTD-2540B15.10_ENST00000590117.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									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)					CATCATCATCGGAAAGGGAGA	0.522													G|||	6	0.00119808	0.003	0.0029	5008	,	,		18538	0		0	False		,,,				2504	0					.											0								G		12,4394	20.2+/-43.8	0,12,2191	108	102	104		1374	-6.3	0	19	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous	WDR88	NM_173479.3		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		458/473	33666433	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	126248			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.1374G>A	19.37:g.33666433G>A			Q8NEF8	Silent	SNP	ENST00000355868.3	37	CCDS12429.1																																																																																				0.522	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		A	33666433	G	A	33666433	2	1	43	1	0	0	0	0	0	0	0	1	17332	1103	39	1		1	WDR88	19	33666433	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	528958	33666433	25462550	937	4114											
WTIP	126374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	34984440	34984440	+	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	ctaccacccaggctgcttccGgtgctccgtgtgcaatgagt	6	10	11	14	2	0	1	0	1	0	0	2	1	2	1	4	2	4	4	4	2	2	2	rs539423563		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:34984440G>A	ENST00000590071.2	+	5	1281	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	WTIP_ENST00000270288.6_Missense_Mutation_p.R539Q	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	315	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCTGCTTCCGGTGCTCCGTG	0.642													G|||	1	0.000199681	0	0	5008	,	,		17989	0		0.001	False		,,,				2504	0					.											0													59	68	65					19																	34984440		2186	4290	6476	SO:0001583	missense	126374			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"WT1-interacting protein"	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.944G>A	19.37:g.34984440G>A	ENSP00000466953:p.Arg315Gln			Missense_Mutation	SNP	ENST00000590071.2	37	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541018	0.96474	.	.	ENSG00000142279	ENST00000270288	D	0.88664	-2.41	5.59	5.59	0.84812	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91746	0.5408	10	0.48119	T	0.1	.	18.3542	0.90351	0.0:0.0:1.0:0.0	.	539	A6NIX2	WTIP_HUMAN	Q	539	ENSP00000270288:R539Q	ENSP00000270288:R539Q	R	+	2	0	WTIP	39676280	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.268000	0.95675	2.624000	0.88883	0.561000	0.74099	CGG		0.642	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		A	34984440	G	A	34984440	3	1	43	1	0	0	0	0	1	0	0	0	17407	1116	39	1	962	1	WTIP	19	34984440	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1318007	34984440	24144543	938	4115											
FFAR2	2867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	35941487	35941487	+	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	ttgggagagggctgcaggtgCtgcggaatcagggctcctcc	6	8	17	10	1	1	1	1	0	0	1	3	3	3	2	2	5	3	4	2	5	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:35941487C>T	ENST00000599180.2	+	2	951	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L291L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	291					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)			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)			GCTGCAGGTGCTGCGGAATCA	0.582																																					GBM(40;139 809 9833 23358 48736)	.											0													92	90	91					19																	35941487		2203	4300	6503	SO:0001819	synonymous_variant	2867			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.871C>T	19.37:g.35941487C>T			B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.582	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		T	35941487	C	T	35941487	2	4	43	1	0	0	0	0	0	0	0	1	5828	796	28	4		4	FFAR2	19	35941487	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	957047	35941487	23187496	939	4116											
RBM42	79171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	36120479	36120479	+	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	atcccaactgctgtgcctgcGgtgcccactgtccccacggt	5	9	10	17	2	0	0	0	0	0	0	2	0	2	0	5	2	5	1	5	2	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36120479G>A	ENST00000262633.4	+	2	291	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RBM42_ENST00000592202.1_Silent_p.A62A|RBM42_ENST00000360475.4_Silent_p.A62A|RBM42_ENST00000589559.1_Silent_p.A62A|RBM42_ENST00000588161.1_Silent_p.A62A|RBM42_ENST00000586618.1_Silent_p.A62A|RBM42_ENST00000589871.1_Silent_p.A62A	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	62						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGTGCCTGCGGTGCCCACTG	0.592																																						.											0													88	83	84					19																	36120479		2203	4300	6503	SO:0001819	synonymous_variant	79171			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.186G>A	19.37:g.36120479G>A			O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	CCDS12468.1																																																																																				0.592	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		A	36120479	G	A	36120479	2	1	43	1	0	0	0	0	0	0	0	1	13136	1103	39	1		1	RBM42	19	36120479	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	178992	36120479	23008504	940	4117											
MLL4	9757	broad.mit.edu	37	chr19	36210431	36210431	+	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	gttccctgcgctctgcgctcCgatcccagcgaggtgagtga	5	9	13	14	4	1	2	0	2	1	0	4	4	4	2	3	1	3	3	3	1	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36210431C>T	ENST00000222270.7	+	2	424	c.424C>T	c.(424-426)Cga>Tga	p.R142*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.R142*|KMT2B_ENST00000341701.1_Nonsense_Mutation_p.R142*	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	142					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)										CTCTGCGCTCCGATCCCAGCG	0.562																																						.											0													52	53	52					19																	36210431		1939	4139	6078	SO:0001587	stop_gained	8085			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.424C>T	19.37:g.36210431C>T	ENSP00000222270:p.Arg142*		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350651	0.82132	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	.	.	.	5.35	5.35	0.76521	.	0.000000	0.34828	N	0.003645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6267	0.51149	0.1776:0.8223:0.0:0.0	.	.	.	.	X	142	.	ENSP00000222270:R142X	R	+	1	2	AD000671.1	40902271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.185000	0.58330	2.516000	0.84829	0.561000	0.74099	CGA		0.562	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36210431	C	T	36210431	4	4	43	1	0	0	0	0	0	1	0	0	9623	644	23	1	430	1	MLL4	19	36210431	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	89952	36210431	22918552	941	4118											
MLL4	9757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	36210898	36210898	+	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	catgtgagccctccacccccCggcggtctcggggacggccc	4	5	13	19	4	1	1	0	1	1	0	3	2	2	2	6	5	1	0	6	5	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36210898C>T	ENST00000222270.7	+	3	649	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R217W|KMT2B_ENST00000341701.1_Missense_Mutation_p.R217W	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	217					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)										CTCCACCCCCCGGCGGTCTCG	0.682																																						.											0													19	27	24					19																	36210898		1968	4135	6103	SO:0001583	missense	8085			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.649C>T	19.37:g.36210898C>T	ENSP00000222270:p.Arg217Trp		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974481	0.74246	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85773	-2.03;-2.03;0.51	5.59	5.59	0.84812	AT hook, DNA-binding motif (1);	0.000000	0.41823	D	0.000801	D	0.85457	0.5701	N	0.14661	0.345	0.37476	D	0.9158	D	0.89917	1.0	D	0.69654	0.965	D	0.89018	0.3433	10	0.87932	D	0	.	15.0853	0.72148	0.0:1.0:0.0:0.0	.	217	Q9UMN6	MLL4_HUMAN	W	217	ENSP00000222270:R217W;ENSP00000398837:R217W;ENSP00000345761:R217W	ENSP00000222270:R217W	R	+	1	2	AD000671.1	40902738	0.993000	0.37304	0.999000	0.59377	0.937000	0.57800	3.836000	0.55813	2.632000	0.89209	0.561000	0.74099	CGG		0.682	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36210898	C	T	36210898	3	4	43	1	0	0	0	0	1	0	0	0	9623	643	23	1	659	1	MLL4	19	36210898	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	467	36210898	22918085	942	4119											
C19orf55	148137	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	36255795	36255795	+	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	atccctgctggacctggagaCgctgagcctacagagcagag	10	6	13	12	1	0	4	0	1	0	3	1	6	1	5	3	2	4	3	3	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36255795C>T	ENST00000544099.1	+	6	647	c.584C>T	c.(583-585)aCg>aTg	p.T195M	C19orf55_ENST00000396908.4_Missense_Mutation_p.T195M			Q2NL68	PRSR3_HUMAN		195										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCTGGAGACGCTGAGCCTA	0.642																																						.											0													40	50	47					19																	36255795		2110	4233	6343	SO:0001583	missense	148137																														ENST00000544099.1:c.584C>T	19.37:g.36255795C>T	ENSP00000467267:p.Thr195Met		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195170	0.38806	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T;T	0.48836	0.8;0.8	4.42	3.39	0.38822	.	0.000000	0.39407	N	0.001370	T	0.56630	0.1998	M	0.68952	2.095	0.30480	N	0.772409	D	0.65815	0.995	P	0.57009	0.811	T	0.60571	-0.7237	10	0.72032	D	0.01	-14.8863	8.2684	0.31829	0.0:0.8908:0.0:0.1092	.	195	E5RFB9	.	M	195;194	ENSP00000380116:T195M;ENSP00000301165:T194M	ENSP00000301165:T194M	T	+	2	0	C19orf55	40947635	0.579000	0.26725	0.872000	0.34217	0.828000	0.46876	0.707000	0.25704	1.217000	0.43442	0.558000	0.71614	ACG		0.642	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			T	36255795	C	T	36255795	3	4	43	1	0	0	0	0	1	0	0	0	1937	536	19	1	606	1	C19orf55	19	36255795	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	44897	36255795	22873188	943	4120											
ARHGAP33	115703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	36279135	36279135	+	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	ccgtacccctcatagggtgcCgggtccctggggccctcctg	3	8	13	17	2	1	0	1	0	0	0	3	0	3	0	7	4	2	1	7	4	2	2	rs200225433		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36279135C>T	ENST00000007510.4	+	21	3812	c.3668C>T	c.(3667-3669)cCg>cTg	p.P1223L	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P1059L|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P1062L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1223					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						CATAGGGTGCCGGGTCCCTGG	0.692																																						.											0													10	14	13					19																	36279135		2088	4091	6179	SO:0001583	missense	115703			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.3668C>T	19.37:g.36279135C>T	ENSP00000007510:p.Pro1223Leu		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	c	9.803	1.181068	0.21787	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.10099	3.34;2.91;3.19	3.99	2.82	0.32997	.	0.000000	0.35870	N	0.002934	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.25257	-1.0137	10	0.87932	D	0	.	6.6413	0.22911	0.0:0.7092:0.1855:0.1053	.	1059;1062	O14559-10;O14559-11	.;.	L	1223;1062;1059	ENSP00000007510:P1223L;ENSP00000320038:P1062L;ENSP00000368227:P1059L	ENSP00000007510:P1223L	P	+	2	0	ARHGAP33	40970975	0.003000	0.15002	0.775000	0.31657	0.131000	0.20780	1.223000	0.32527	2.174000	0.68829	0.401000	0.26515	CCG		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		T	36279135	C	T	36279135	3	4	43	1	0	0	0	0	1	0	0	0	882	652	23	1	3750	1	ARHGAP33	19	36279135	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	23340	36279135	22849848	944	4121											
KIRREL2	84063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	36349605	36349605	+	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	gaccccaaatccaccttgcaGtccccccagaagccccccag	10	4	6	21	0	0	1	0	0	0	1	2	2	2	1	10	0	2	1	10	0	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36349605G>A	ENST00000360202.5	+	4	559		c.e4-1		KIRREL2_ENST00000592409.1_Splice_Site|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Splice_Site|KIRREL2_ENST00000347900.6_Splice_Site	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACCTTGCAGTCCCCCCAGA	0.627																																						.											0													50	58	55					19																	36349605		2203	4300	6503	SO:0001630	splice_region_variant	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.362-1G>A	19.37:g.36349605G>A			C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Splice_Site	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607817	0.28623	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.466	0.75400	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIRREL2	41041445	1.000000	0.71417	0.995000	0.50966	0.020000	0.10135	7.608000	0.82898	2.793000	0.96121	0.563000	0.77884	.		0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	Intron	A	36349605	G	A	36349605	5	1	43	1	0	0	0	0	0	0	1	0	8325	1043	36	4	375	4	KIRREL2	19	36349605	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	70470	36349605	22779378	945	4122											
WDR62	284403	broad.mit.edu	37	chr19	36592604	36592604	+	Missense_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	ccgacctggagtgcagcttcGcagccatccactccccagct	7	7	9	18	2	0	0	0	0	0	0	3	2	2	1	6	1	4	4	6	1	0	1	rs370416793		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36592604G>A	ENST00000270301.7	+	25	3010	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	WDR62_ENST00000401500.2_Missense_Mutation_p.A1004T			O43379	WDR62_HUMAN	WD repeat domain 62	1004					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)			GTGCAGCTTCGCAGCCATCCA	0.667																																						.											0													21	17	18					19																	36592604		2051	3901	5952	SO:0001583	missense	284403			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.3010G>A	19.37:g.36592604G>A	ENSP00000270301:p.Ala1004Thr		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873333	0.17322	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.45668	0.98;0.89	4.28	-6.24	0.02046	.	1.437660	0.03815	N	0.266608	T	0.17662	0.0424	N	0.04355	-0.22	0.21473	N	0.999679	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.14476	-1.0471	10	0.19590	T	0.45	-7.7739	6.9063	0.24311	0.5919:0.0:0.2839:0.1241	.	1004;1004	O43379-4;O43379	.;WDR62_HUMAN	T	1004	ENSP00000384792:A1004T;ENSP00000270301:A1004T	ENSP00000270301:A1004T	A	+	1	0	WDR62	41284444	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.504000	0.02275	-1.191000	0.02695	-0.825000	0.03093	GCA		0.667	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		A	36592604	G	A	36592604	3	1	43	1	0	0	0	0	1	0	0	0	17310	1087	38	1	3108	1	WDR62	19	36592604	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	242999	36592604	22536379	946	4123											
ZNF569	148266	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	37916858	37916858	+	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	atcacatcaggtttggtgaaCggatagcctgtcaaagggaa	13	9	12	7	1	3	1	3	1	0	0	3	3	3	3	1	4	2	1	1	4	4	2	rs534219621		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:37916858C>T	ENST00000316950.6	-	5	707	c.150G>A	c.(148-150)ccG>ccA	p.P50P	ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Silent_p.P74P|ZNF569_ENST00000392149.2_Silent_p.P50P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTGGTGAACGGATAGCCTG	0.443													C|||	1	0.000199681	0	0	5008	,	,		17935	0		0	False		,,,				2504	0.001					.											0													295	283	287					19																	37916858		2203	4300	6503	SO:0001819	synonymous_variant	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.150G>A	19.37:g.37916858C>T			A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	CCDS12503.1																																																																																				0.443	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		T	37916858	C	T	37916858	2	4	43	1	0	0	0	0	0	0	0	1	17997	523	19	1		1	ZNF569	19	37916858	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1324254	37916858	21212125	947	4124											
RASGRP4	115727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	38901988	38901988	+	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	actgacaccccactcaccccGacagcggtagccttgcttgg	8	7	9	17	2	1	1	1	1	0	0	1	2	1	1	5	2	3	2	5	2	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:38901988G>A	ENST00000587738.1	-	14	1784	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	RASGRP4_ENST00000454404.2_Missense_Mutation_p.R538W|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R383W|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R475W|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R558W|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R480W|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R503W			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	572					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)			CACTCACCCCGACAGCGGTAG	0.617																																						.											0													26	27	27					19																	38901988		1972	4154	6126	SO:0001583	missense	115727			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.1714C>T	19.37:g.38901988G>A	ENSP00000465772:p.Arg572Trp		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423059	0.83559	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	D;D;D	0.93133	-3.17;-3.17;-3.17	5.7	5.7	0.88788	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.200789	0.42964	D	0.000636	D	0.96836	0.8967	M	0.89095	3.005	0.39659	D	0.970589	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.995;0.995;0.995;0.984;0.998	P;D;P;P;P;P;P	0.79784	0.817;0.993;0.745;0.745;0.745;0.828;0.885	D	0.97572	1.0105	10	0.87932	D	0	.	12.2986	0.54862	0.0:0.0:0.8308:0.1692	.	383;475;480;538;503;558;572	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	W	480;475;383;572;572	ENSP00000411878:R480W;ENSP00000293062:R475W;ENSP00000445966:R383W	ENSP00000293062:R475W	R	-	1	2	RASGRP4	43593828	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.229000	0.51278	2.687000	0.91594	0.655000	0.94253	CGG		0.617	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		A	38901988	G	A	38901988	3	1	43	1	0	0	0	0	1	0	0	0	13077	1057	37	1	323	1	RASGRP4	19	38901988	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	985130	38901988	20226995	948	4125											
MAP4K1	11184	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	39090577	39090577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagacctgagagagacaTgagaacgttgttgatggagt	13	8	14	6	1	0	5	0	3	0	4	0	9	0	6	2	1	2	2	2	1	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:39090577T>C	ENST00000591517.1	-	22	1685	c.1657A>G	c.(1657-1659)Atg>Gtg	p.M553V	MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.M553V|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.M549V|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	553	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGAGACATGAGAACGTTG	0.587																																						.											0													138	143	142					19																	39090577		2053	4212	6265	SO:0001583	missense	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1657A>G	19.37:g.39090577T>C	ENSP00000465039:p.Met553Val			Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	14.30	2.494029	0.44352	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.04015	3.73	4.87	3.86	0.44501	Citron-like (3);	0.046500	0.85682	N	0.000000	T	0.06781	0.0173	L	0.58810	1.83	0.80722	D	1	B;B	0.21821	0.049;0.061	B;B	0.23574	0.028;0.047	T	0.11591	-1.0581	10	0.87932	D	0	.	8.1226	0.30980	0.0:0.093:0.0:0.907	.	553;553	Q92918-2;Q92918	.;M4K1_HUMAN	V	553	ENSP00000380066:M553V	ENSP00000221409:M553V	M	-	1	0	MAP4K1	43782417	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.078000	0.57606	0.907000	0.36646	0.454000	0.30748	ATG		0.587	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		C	39090577	T	C	39090577	3	2	43	1	0	0	0	0	1	0	0	0	9259	1464	51	4	950	4	MAP4K1	19	39090577	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	188589	39090577	20038406	949	4126											
ZFP36	7538	bcgsc.ca	37	chr19	39899072	39899072	+	Frame_Shift_Del	DEL	C	C	-																															ttctctgctgcccctggcacCcccctggctcgaagagaccc																										TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:39899072delC	ENST00000248673.3	+	2	772	c.714delC	c.(712-714)accfs	p.T238fs	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Frame_Shift_Del_p.T244fs	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	238					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTGGCACCCCCCTGGCTC	0.682																																					NSCLC(67;1164 1324 12056 21056 30097)	.											0													35	40	39					19																	39899072		2202	4300	6502	SO:0001589	frameshift_variant	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.714delC	19.37:g.39899072delC	ENSP00000248673:p.Thr238fs		B2RA54	Frame_Shift_Del	DEL	ENST00000248673.3	37																																																																																					0.682	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				-	39899072	C	-	39899072	7	5	43	1	0	1	0	1	0	0	0	0	17642	610	22	0	720	0	ZFP36	19	39899072	Frame_Shift_Del	DEL	C	TCGA-KN-8428-01A-11D-2310-10	808495	39899072	19229911	950	4127											
FCGBP	8857	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	40366434	40366434	+	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	gccgcgtacgccgccggcacGcgcaggcgcacgaagctgtc	6	3	15	17	9	0	0	0	0	0	0	1	1	0	0	3	2	2	5	3	2	2	1	rs373753795		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40366434G>A	ENST00000221347.6	-	30	13807	c.13800C>T	c.(13798-13800)cgC>cgT	p.R4600R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4600	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.R4600R(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)			CCGCCGGCACGCGCAGGCGCA	0.672																																						.											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											45	51	49					19																	40366434		2202	4297	6499	SO:0001819	synonymous_variant	8857			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.13800C>T	19.37:g.40366434G>A			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40366434	G	A	40366434	2	1	43	1	0	0	0	0	0	0	0	1	5778	1074	38	1		1	FCGBP	19	40366434	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	467362	40366434	18762549	951	4128											
FCGBP	8857	broad.mit.edu;mdanderson.org	37	chr19	40368741	40368741	+	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	atagctgctggggagcgtcaCgtctacccgccagttccagt	7	9	12	13	3	2	0	1	0	1	0	3	1	3	1	3	2	4	3	3	2	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40368741C>T	ENST00000221347.6	-	28	12614	c.12607G>A	c.(12607-12609)Gtg>Atg	p.V4203M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4203	VWFD 10. {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)			GGGAGCGTCACGTCTACCCGC	0.607																																						.											0													244	249	247					19																	40368741		2203	4300	6503	SO:0001583	missense	8857			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.12607G>A	19.37:g.40368741C>T	ENSP00000221347:p.Val4203Met		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742965	0.30865	.	.	ENSG00000090920	ENST00000221347	T	0.63255	-0.03	3.92	2.89	0.33648	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.78629	0.4313	M	0.88842	2.985	0.20563	N	0.99989	D	0.89917	1.0	D	0.68943	0.961	T	0.65442	-0.6167	9	0.72032	D	0.01	.	7.7633	0.28965	0.0:0.8163:0.0:0.1837	.	4203	Q9Y6R7	FCGBP_HUMAN	M	4203	ENSP00000221347:V4203M	ENSP00000221347:V4203M	V	-	1	0	FCGBP	45060581	0.000000	0.05858	0.865000	0.33974	0.018000	0.09664	-0.540000	0.06106	2.201000	0.70794	0.305000	0.20034	GTG		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40368741	C	T	40368741	3	4	43	1	0	0	0	0	1	0	0	0	5778	536	19	1	3646	1	FCGBP	19	40368741	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2307	40368741	18760242	952	4129											
CNTD2	79935	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	40730407	40730407	+	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	ggaagtacctcgggaagcacGcactcttccattttgcacgc	9	9	10	13	3	1	0	0	0	1	0	3	2	2	2	2	2	3	4	2	2	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	167	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592																																						.											0													178	196	190					19																	40730407		2203	4300	6503	SO:0001819	synonymous_variant	79935			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"cyclin P"					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.501C>T	19.37:g.40730407G>A			B4DX65	Silent	SNP	ENST00000430325.2	37	CCDS12551.2																																																																																				0.592	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		A	40730407	G	A	40730407	2	1	43	1	0	0	0	0	0	0	0	1	3636	1079	38	1		1	CNTD2	19	40730407	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	361666	40730407	18398576	953	4130											
SPTBN4	57731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	41072217	41072217	+	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	catgaggccttccgcaaagcGgctgcagcctgggaagagag	10	5	15	11	2	0	2	0	1	0	1	1	4	1	3	3	3	3	3	3	3	2	1	rs577033896		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41072217G>A	ENST00000352632.3	+	30	6374	c.6288G>A	c.(6286-6288)gcG>gcA	p.A2096A	SPTBN4_ENST00000392025.1_Silent_p.A839A|SPTBN4_ENST00000598249.1_Silent_p.A2096A|SPTBN4_ENST00000338932.3_Silent_p.A2096A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2096					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)			TCCGCAAAGCGGCTGCAGCCT	0.667													g|||	1	0.000199681	0	0	5008	,	,		14384	0.001		0	False		,,,				2504	0					.											0													17	19	18					19																	41072217		2200	4300	6500	SO:0001819	synonymous_variant	57731			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.6288G>A	19.37:g.41072217G>A			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																				0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			A	41072217	G	A	41072217	2	1	43	1	0	0	0	0	0	0	0	1	15120	1103	39	1		1	SPTBN4	19	41072217	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	341810	41072217	18056766	954	4131											
ADCK4	79934	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	41198899	41198899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaggtccctggacttcTgcaggacacagtctctgtct	7	13	10	11	0	3	1	0	1	3	0	5	3	4	3	1	3	1	1	1	3	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41198899T>C	ENST00000324464.3	-	14	1554	c.1253A>G	c.(1252-1254)cAg>cGg	p.Q418R	NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.Q377R|NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.Q377R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	418	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCTGGACTTCTGCAGGACACA	0.607																																						.											0													98	90	93					19																	41198899		2203	4300	6503	SO:0001583	missense	79934			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1253A>G	19.37:g.41198899T>C	ENSP00000315118:p.Gln418Arg		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291259	0.23564	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.54071	0.59;0.59;0.59	5.37	4.35	0.52113	Protein kinase-like domain (1);	0.444670	0.24973	N	0.034129	T	0.33614	0.0869	N	0.17594	0.5	0.37920	D	0.931658	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.15838	-1.0423	10	0.39692	T	0.17	-11.5279	7.7486	0.28883	0.0:0.1652:0.0:0.8348	.	418;377	Q96D53;Q96D53-2	ADCK4_HUMAN;.	R	418;377;377	ENSP00000315118:Q418R;ENSP00000412839:Q377R;ENSP00000243583:Q377R	ENSP00000243583:Q377R	Q	-	2	0	ADCK4	45890739	0.994000	0.37717	0.998000	0.56505	0.579000	0.36224	2.254000	0.43214	0.884000	0.36064	0.533000	0.62120	CAG		0.607	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		C	41198899	T	C	41198899	3	2	43	1	0	0	0	0	1	0	0	0	290	1580	55	2	389	2	ADCK4	19	41198899	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	126682	41198899	17930084	955	4132											
POU2F2	5452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	42600329	42600329	+	Missense_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	ctcctcggggtgggatggtgGctccaagcatttggggggct	4	10	18	9	1	0	0	0	0	0	0	3	1	2	1	2	8	1	3	2	8	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42600329G>A	ENST00000526816.2	-	8	583	c.568C>T	c.(568-570)Cca>Tca	p.P190S	POU2F2_ENST00000560558.1_Missense_Mutation_p.P135S|POU2F2_ENST00000529067.1_Missense_Mutation_p.P174S|POU2F2_ENST00000389341.5_Missense_Mutation_p.P174S|POU2F2_ENST00000560398.1_Missense_Mutation_p.P196S|POU2F2_ENST00000533720.1_Missense_Mutation_p.P174S|POU2F2_ENST00000529952.1_Missense_Mutation_p.P190S|POU2F2_ENST00000342301.4_Missense_Mutation_p.P190S			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	190					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)	TGGGATGGTGGCTCCAAGCAT	0.682																																						.											0													35	35	35					19																	42600329		2203	4300	6503	SO:0001583	missense	5452				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.568C>T	19.37:g.42600329G>A	ENSP00000431603:p.Pro190Ser		Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676257	0.47886	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;T;D	0.83335	-1.64;-1.65;-1.71;-1.43;-1.57	4.33	4.33	0.51752	.	0.634983	0.12915	N	0.428654	T	0.78553	0.4301	N	0.22421	0.69	0.40871	D	0.983912	B;D;B	0.57257	0.356;0.979;0.409	B;P;B	0.51777	0.185;0.679;0.249	T	0.71862	-0.4464	10	0.11794	T	0.64	.	14.2132	0.65778	0.0:0.0:1.0:0.0	.	174;190;174	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	S	174;190;190;174;189;174;190	ENSP00000373992:P174S;ENSP00000339369:P190S;ENSP00000437221:P174S;ENSP00000437224:P174S;ENSP00000436988:P190S	ENSP00000292077:P190S	P	-	1	0	POU2F2	47292169	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	1.558000	0.36309	2.393000	0.81446	0.650000	0.86243	CCA		0.682	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			A	42600329	G	A	42600329	3	1	43	1	0	0	0	0	1	0	0	0	12272	1203	42	3	899	3	POU2F2	19	42600329	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1401430	42600329	16528654	956	4133											
ZNF526	116115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	42729973	42729973	+	Missense_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	gccccctgaacggcgtcaccGctgtggggtttgtggcaagg	5	8	16	12	3	1	1	1	1	0	0	1	1	1	1	3	5	1	3	3	5	2	1	rs149858475		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42729973G>A	ENST00000301215.3	+	3	1643	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CGGCGTCACCGCTGTGGGGTT	0.657																																						.											0								G	HIS/ARG	0,4406		0,0,2203	67	70	69		1418	0.3	0	19	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF526	NM_133444.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	473/671	42729973	1,13005	2203	4300	6503	SO:0001583	missense	116115			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.1418G>A	19.37:g.42729973G>A	ENSP00000301215:p.Arg473His		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096005	0.36952	0.0	1.16E-4	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.14893	2.47	4.97	0.305	0.15801	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.513891	0.17231	N	0.181951	T	0.11153	0.0272	L	0.28649	0.875	0.09310	N	1	P	0.48350	0.909	B	0.40565	0.333	T	0.17018	-1.0383	10	0.54805	T	0.06	-18.3772	8.4082	0.32627	0.4764:0.0:0.5236:0.0	.	473	Q8TF50	ZN526_HUMAN	H	329;473	ENSP00000301215:R473H	ENSP00000301215:R473H	R	+	2	0	ZNF526	47421813	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-0.022000	0.12480	0.093000	0.17368	0.650000	0.86243	CGC		0.657	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		A	42729973	G	A	42729973	3	1	43	1	0	0	0	0	1	0	0	0	17964	1087	38	1	1420	1	ZNF526	19	42729973	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	129644	42729973	16399010	957	4134											
ERF	2077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	42754628	42754628	+	Missense_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	gccctggtactcctccttccGcagcagctccaggataaagt	8	9	9	15	1	0	0	0	0	0	0	4	1	4	1	5	2	3	4	5	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42754628G>A	ENST00000222329.4	-	2	269	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR|ERF_ENST00000440177.2_5'UTR	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	38					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TCCTCCTTCCGCAGCAGCTCC	0.622																																						.											0													56	49	52					19																	42754628		2203	4300	6503	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.112C>T	19.37:g.42754628G>A	ENSP00000222329:p.Arg38Trp		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643487	0.67244	.	.	ENSG00000105722	ENST00000222329	T	0.23754	1.89	5.45	3.27	0.37495	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.21245	-1.0251	10	0.87932	D	0	.	12.9636	0.58472	0.0:0.0:0.7055:0.2945	.	38	P50548	ERF_HUMAN	W	38	ENSP00000222329:R38W	ENSP00000222329:R38W	R	-	1	2	ERF	47446468	0.030000	0.19436	0.992000	0.48379	0.952000	0.60782	0.880000	0.28159	0.766000	0.33244	0.655000	0.94253	CGG		0.622	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		A	42754628	G	A	42754628	3	1	43	1	0	0	0	0	1	0	0	0	5221	1086	38	1	1546	1	ERF	19	42754628	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	24655	42754628	16374355	958	4135											
MEGF8	1954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	42861000	42861000	+	Missense_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	gggcccaggcccatcgccccGctccttccatgcagccgcat	5	6	10	20	3	0	0	0	0	0	0	3	0	2	0	7	2	2	3	7	2	0	1	rs397515427		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42861000G>A	ENST00000251268.6	+	27	4697	c.4697G>A	c.(4696-4698)cGc>cAc	p.R1566H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1499H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1566			R -> H (in CRPT2). {ECO:0000269|PubMed:23063620}.		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)				CCATCGCCCCGCTCCTTCCAT	0.662																																						.											0													29	27	28					19																	42861000		2197	4284	6481	SO:0001583	missense	1954			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.4697G>A	19.37:g.42861000G>A	ENSP00000251268:p.Arg1566His		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.267534	0.80469	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	D;D	0.83163	-1.69;-1.69	5.11	5.11	0.69529	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000001	D	0.92241	0.7539	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.93570	0.6903	10	0.87932	D	0	-30.787	17.3138	0.87217	0.0:0.0:1.0:0.0	.	1566;1499	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	1499;1566	ENSP00000334219:R1499H;ENSP00000251268:R1566H	ENSP00000251268:R1566H	R	+	2	0	MEGF8	47552840	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.659000	0.83766	2.400000	0.81607	0.563000	0.77884	CGC		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42861000	G	A	42861000	3	1	43	1	0	0	0	0	1	0	0	0	9463	1087	38	1	4598	1	MEGF8	19	42861000	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	106372	42861000	16267983	959	4136											
LYPD3	27076	hgsc.bcm.edu;ucsc.edu	37	chr19	43965542	43965542	+	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	gccacggccaacagaagggcTgccaatccagctgtgggagc	10	4	14	13	1	0	1	0	0	0	1	1	2	1	2	4	3	4	2	4	3	3	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:43965542T>C	ENST00000244333.3	-	5	1090	c.1002A>G	c.(1000-1002)gcA>gcG	p.A334A		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	334					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)				ACAGAAGGGCTGCCAATCCAG	0.592																																						.											0													29	31	30					19																	43965542		2203	4300	6503	SO:0001819	synonymous_variant	27076			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.1002A>G	19.37:g.43965542T>C			Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																				0.592	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		C	43965542	T	C	43965542	2	2	43	1	0	0	0	0	0	0	0	1	9111	1567	55	2		2	LYPD3	19	43965542	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1104542	43965542	15163441	960	4137											
ZNF234	10780	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	44661482	44661482	+	Missense_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	agtatgtggtaaagccttccGtcagagttcatatcttaaaa	13	13	8	7	1	3	1	2	0	1	1	4	1	4	1	2	1	1	3	2	1	6	6	rs376364041		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:44661482G>A	ENST00000426739.2	+	6	1571	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	ZNF234_ENST00000592437.1_Missense_Mutation_p.R438H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	438					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)				AAAGCCTTCCGTCAGAGTTCA	0.413																																						.											0								G	HIS/ARG,HIS/ARG	0,4142		0,0,2071	60	61	61		1313,1313	2.8	0.4	19		61	1,8475		0,1,4237	no	missense,missense	ZNF234	NM_001144824.1,NM_006630.2	29,29	0,1,6308	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging	438/701,438/701	44661482	1,12617	2071	4238	6309	SO:0001583	missense	10780			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.1313G>A	19.37:g.44661482G>A	ENSP00000400878:p.Arg438His		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996673	0.54147	0.0	1.18E-4	ENSG00000167380	ENST00000426739	T	0.07567	3.18	3.94	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	L	0.46157	1.445	0.09310	N	1	D	0.65815	0.995	P	0.55545	0.778	T	0.07271	-1.0781	9	0.41790	T	0.15	.	10.4269	0.44385	0.0:0.0:0.8053:0.1947	.	438	Q14588	ZN234_HUMAN	H	438	ENSP00000400878:R438H	ENSP00000400878:R438H	R	+	2	0	ZNF226	49353322	0.001000	0.12720	0.393000	0.26258	0.996000	0.88848	0.825000	0.27393	2.192000	0.70111	0.591000	0.81541	CGT		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			A	44661482	G	A	44661482	3	1	43	1	0	0	0	0	1	0	0	0	17784	1145	40	1	1327	1	ZNF234	19	44661482	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	695940	44661482	14467501	961	4138											
CEACAM16	388551	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	45207383	45207383	+	Missense_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	gcagcagccccagccccaccGccgaggtccgctggttcttc	5	6	11	19	3	1	0	0	0	1	0	3	1	2	0	7	2	3	4	7	2	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45207383G>A	ENST00000405314.2	+	3	575	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.A160T			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	160	Ig-like C2-type 1.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCCACCGCCGAGGTCCG	0.697																																						.											0													11	15	13					19																	45207383		1958	4115	6073	SO:0001583	missense	388551				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.478G>A	19.37:g.45207383G>A	ENSP00000385576:p.Ala160Thr		A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	5.932	0.355948	0.11239	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.12465	2.68	5.64	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.298565	0.17891	U	0.158524	T	0.11707	0.0285	N	0.17764	0.52	0.09310	N	1	D	0.63046	0.992	P	0.50570	0.644	T	0.08472	-1.0720	10	0.09590	T	0.72	-17.3407	10.5959	0.45338	0.0888:0.0:0.9112:0.0	.	219	Q2WEN9	CEA16_HUMAN	T	225;160	ENSP00000385576:A160T	ENSP00000379974:A225T	A	+	1	0	CEACAM16	49899223	0.611000	0.26992	0.104000	0.21259	0.023000	0.10783	4.896000	0.63222	1.520000	0.48965	0.561000	0.74099	GCC		0.697	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		A	45207383	G	A	45207383	3	1	43	1	0	0	0	0	1	0	0	0	3188	1087	38	1	488	1	CEACAM16	19	45207383	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	545901	45207383	13921600	962	4139											
BCL3	602	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	45262838	45262838	+	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	cctccgaggccctggccggcCggtgcccccctccccagctc	2	5	11	23	3	0	0	0	0	0	0	3	1	2	0	10	4	2	1	10	4	0	0	rs377071242		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45262838C>T	ENST00000164227.5	+	9	1575	c.1331C>T	c.(1330-1332)cCg>cTg	p.P444L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	444	Pro/Ser-rich.				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)	p.P436Q(1)		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)				CCTGGCCGGCCGGTGCCCCCC	0.682			T	IGH@	CLL								C|||	1	0.000199681	0	0	5008	,	,		12004	0.001		0	False		,,,				2504	0					.		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	1	Substitution - Missense(1)	ovary(1)						C	LEU/PRO	0,4404		0,0,2202	34	43	40		1331	4.6	1	19		40	2,8588		0,2,4293	no	missense	BCL3	NM_005178.4	98	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	444/455	45262838	2,12992	2202	4295	6497	SO:0001583	missense	602			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.1331C>T	19.37:g.45262838C>T	ENSP00000164227:p.Pro444Leu			Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456786	0.63401	0.0	2.33E-4	ENSG00000069399	ENST00000164227	T	0.47869	0.83	4.64	4.64	0.57946	.	0.000000	0.42548	D	0.000681	T	0.55847	0.1946	L	0.27053	0.805	0.47584	D	0.999465	D	0.89917	1.0	D	0.81914	0.995	T	0.61227	-0.7105	10	0.72032	D	0.01	-22.3929	14.9891	0.71371	0.0:1.0:0.0:0.0	.	444	P20749	BCL3_HUMAN	L	444	ENSP00000164227:P444L	ENSP00000164227:P444L	P	+	2	0	BCL3	49954678	0.975000	0.34042	0.968000	0.41197	0.951000	0.60555	2.622000	0.46427	2.115000	0.64714	0.491000	0.48974	CCG		0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		T	45262838	C	T	45262838	3	4	43	1	0	0	0	0	1	0	0	0	1375	652	23	1	1365	1	BCL3	19	45262838	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	55455	45262838	13866145	963	4140											
PVRL2	5819	broad.mit.edu	37	chr19	45375403	45375403	+	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	tacctgtgaccctctctgtaCgctgtgagtgtatcgggggt	5	13	13	10	2	1	2	0	2	1	0	3	2	1	2	2	2	2	3	2	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45375403C>T	ENST00000252483.5	+	3	772	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	PVRL2_ENST00000252485.4_Missense_Mutation_p.R258C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	258					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|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)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.R258C(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCTCTCTGTACGCTGTGAGTG	0.557																																						.											1	Substitution - Missense(1)	large_intestine(1)											160	118	132					19																	45375403		2203	4300	6503	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.772C>T	19.37:g.45375403C>T	ENSP00000252483:p.Arg258Cys		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172643	0.57584	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.15487	2.42;2.42	4.25	3.15	0.36227	Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000142	T	0.36138	0.0956	M	0.79475	2.455	0.47441	D	0.999425	D;D	0.89917	1.0;1.0	P;D	0.65987	0.872;0.94	T	0.14643	-1.0465	10	0.72032	D	0.01	.	8.3414	0.32245	0.254:0.746:0.0:0.0	.	258;258	Q92692;Q92692-2	PVRL2_HUMAN;.	C	258	ENSP00000252483:R258C;ENSP00000252485:R258C	ENSP00000252483:R258C	R	+	1	0	PVRL2	50067243	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.396000	0.44468	2.190000	0.69967	0.561000	0.74099	CGC		0.557	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		T	45375403	C	T	45375403	3	4	43	1	0	0	0	0	1	0	0	0	12840	536	19	1	782	1	PVRL2	19	45375403	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	112565	45375403	13753580	964	4141											
TOMM40	10452	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	45397308	45397308	+	Missense_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	tcaccctggggaacccagacGtcctcgtgggttcaggtaag	8	8	13	12	2	2	1	2	0	0	1	4	2	3	2	3	4	1	2	3	4	2	2	rs373123327		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45397308G>A	ENST00000426677.2	+	5	808	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	TOMM40_ENST00000252487.5_Missense_Mutation_p.V210I|TOMM40_ENST00000592434.1_Missense_Mutation_p.V210I|TOMM40_ENST00000405636.2_Missense_Mutation_p.V210I	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	210					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)		GAACCCAGACGTCCTCGTGGG	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		17156	0		0	False		,,,				2504	0					.											0								G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	35	35	35		628,628,628	4.7	0.9	19		35	0,8600		0,0,4300	no	missense,missense,missense	TOMM40	NM_001128916.1,NM_001128917.1,NM_006114.2	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign	210/362,210/362,210/362	45397308	2,13004	2203	4300	6503	SO:0001583	missense	10452			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.628G>A	19.37:g.45397308G>A	ENSP00000410339:p.Val210Ile		Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	ENST00000426677.2	37	CCDS12646.1	.	.	.	.	.	.	.	.	.	.	G	4.709	0.131812	0.08981	4.54E-4	0.0	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.40225	1.04;1.04;1.04	4.66	4.66	0.58398	.	0.070286	0.56097	D	0.000025	T	0.17195	0.0413	N	0.11131	0.1	0.49582	D	0.999807	B;B	0.31290	0.318;0.046	B;B	0.24394	0.031;0.053	T	0.14643	-1.0465	10	0.02654	T	1	-6.3551	8.8123	0.34974	0.1042:0.0:0.8958:0.0	.	210;210	O96008-2;O96008	.;TOM40_HUMAN	I	210	ENSP00000410339:V210I;ENSP00000385184:V210I;ENSP00000252487:V210I	ENSP00000252487:V210I	V	+	1	0	TOMM40	50089148	0.996000	0.38824	0.916000	0.36221	0.676000	0.39594	2.372000	0.44257	2.133000	0.65898	0.561000	0.74099	GTC		0.577	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			A	45397308	G	A	45397308	3	1	43	1	0	0	0	0	1	0	0	0	16355	1145	40	1	646	1	TOMM40	19	45397308	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	21905	45397308	13731675	965	4142											
RSPH6A	81492	broad.mit.edu;ucsc.edu	37	chr19	46308230	46308230	+	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	aggccgacgccggcctgctcGaagtagaaggcagtctccat	9	6	13	13	4	1	1	0	0	1	1	3	3	1	1	4	3	1	3	4	3	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:46308230G>A	ENST00000221538.3	-	3	1075	c.933C>T	c.(931-933)ttC>ttT	p.F311F	RSPH6A_ENST00000600188.1_Silent_p.F47F|RSPH6A_ENST00000597055.1_Silent_p.F311F	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	311						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						CGGCCTGCTCGAAGTAGAAGG	0.617																																						.											0													46	43	44					19																	46308230		2203	4300	6503	SO:0001819	synonymous_variant	81492			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.933C>T	19.37:g.46308230G>A			Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																				0.617	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			A	46308230	G	A	46308230	2	1	43	1	0	0	0	0	0	0	0	1	13707	1049	37	1		1	RSPH6A	19	46308230	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	910922	46308230	12820753	966	4143											
GRIN2D	2906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	48945611	48945611	+	Missense_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	ctgcctggggcccacccaccGcatggacttcctgctggcct	4	8	11	18	1	0	0	0	0	0	0	1	1	1	1	6	4	2	2	6	4	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:48945611G>A	ENST00000263269.3	+	12	2733	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	882					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)	CCCACCCACCGCATGGACTTC	0.657																																						.											0													56	60	59					19																	48945611		2203	4300	6503	SO:0001583	missense	2906			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.2645G>A	19.37:g.48945611G>A	ENSP00000263269:p.Arg882His			Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	g	13.09	2.132782	0.37630	.	.	ENSG00000105464	ENST00000263269	T	0.13196	2.61	3.85	2.82	0.32997	.	0.075697	0.50627	D	0.000120	T	0.08537	0.0212	N	0.20986	0.625	0.25545	N	0.987145	B	0.15473	0.013	B	0.08055	0.003	T	0.17531	-1.0366	10	0.56958	D	0.05	.	7.5626	0.27860	0.2035:0.0:0.7965:0.0	.	882	O15399	NMDE4_HUMAN	H	882	ENSP00000263269:R882H	ENSP00000263269:R882H	R	+	2	0	GRIN2D	53637423	0.999000	0.42202	1.000000	0.80357	0.463000	0.32649	2.343000	0.44001	2.161000	0.67846	0.450000	0.29827	CGC		0.657	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			A	48945611	G	A	48945611	3	1	43	1	0	0	0	0	1	0	0	0	6782	1087	38	1	2687	1	GRIN2D	19	48945611	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2637381	48945611	10183372	967	4144											
LMTK3	114783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	49002432	49002432	+	Missense_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	cacccacggggcggtcccccGctcccccaagacctcggcag	6	3	11	21	4	0	1	0	0	0	1	3	1	2	1	6	4	0	2	6	4	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49002432G>A	ENST00000600059.1	-	11	2121	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W	LMTK3_ENST00000270238.3_Missense_Mutation_p.R661W			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	632	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)		GCGGTCCCCCGCTCCCCCAAG	0.731																																						.											0													3	3	3					19																	49002432		1342	3198	4540	SO:0001583	missense	114783			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.1894C>T	19.37:g.49002432G>A	ENSP00000472020:p.Arg632Trp		Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	G	13.39	2.221564	0.39300	.	.	ENSG00000142235	ENST00000270238	T	0.79247	-1.25	3.86	1.28	0.21552	.	1.169160	0.06763	U	0.782141	T	0.55049	0.1896	N	0.08118	0	0.25401	N	0.988445	D	0.56968	0.978	B	0.37422	0.249	T	0.51419	-0.8708	10	0.45353	T	0.12	.	7.4012	0.26965	0.0:0.184:0.6273:0.1887	.	632	Q96Q04	LMTK3_HUMAN	W	661	ENSP00000270238:R661W	ENSP00000270238:R661W	R	-	1	2	LMTK3	53694244	0.035000	0.19736	0.954000	0.39281	0.332000	0.28634	2.264000	0.43302	0.685000	0.31468	0.386000	0.25728	CGG		0.731	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		A	49002432	G	A	49002432	3	1	43	1	0	0	0	0	1	0	0	0	8860	1086	38	1	2508	1	LMTK3	19	49002432	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	56821	49002432	10126551	968	4145											
FUT2	2524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	49206425	49206425	+	Missense_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	gacgatcaatgcaataggccGcctggggaaccagatgggcg	11	5	15	10	3	1	1	1	0	0	1	1	4	1	2	3	4	2	1	3	4	4	1	rs374416675		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49206425G>A	ENST00000425340.2	+	2	329	c.212G>A	c.(211-213)cGc>cAc	p.R71H	FUT2_ENST00000391876.4_Missense_Mutation_p.R71H	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	71					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		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;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCAATAGGCCGCCTGGGGAAC	0.622																																						.											0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	59	56	57		212,212	4.3	1	19		57	0,8600		0,0,4300	no	missense,missense	FUT2	NM_000511.5,NM_001097638.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	71/344,71/344	49206425	1,13005	2203	4300	6503	SO:0001583	missense	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.212G>A	19.37:g.49206425G>A	ENSP00000387498:p.Arg71His		Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153140	0.78001	2.27E-4	0.0	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96802	-4.13;-4.13;-4.13	4.33	4.33	0.51752	.	.	.	.	.	D	0.98283	0.9431	M	0.90759	3.145	0.42790	D	0.993895	D	0.89917	1.0	D	0.97110	1.0	D	0.99712	1.1007	9	0.87932	D	0	.	14.7241	0.69329	0.0:0.0:1.0:0.0	.	71	Q10981	FUT2_HUMAN	H	71	ENSP00000430227:R71H;ENSP00000387498:R71H;ENSP00000375748:R71H	ENSP00000375748:R71H	R	+	2	0	FUT2	53898237	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	5.966000	0.70395	2.131000	0.65755	0.549000	0.68633	CGC		0.622	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		A	49206425	G	A	49206425	3	1	43	1	0	0	0	0	1	0	0	0	6104	1087	38	1	214	1	FUT2	19	49206425	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	203993	49206425	9922558	969	4146											
GYS1	2997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	49473833	49473833	+	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	tatttccagtccagaaggtcGgagaggcgctccgtgcggtt	7	10	14	10	4	0	2	0	0	0	2	4	3	3	2	3	4	1	2	3	4	2	3	rs372542706		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49473833G>A	ENST00000323798.3	-	14	1975	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	GYS1_ENST00000263276.6_Silent_p.S529S|GYS1_ENST00000541188.1_Silent_p.S513S|GYS1_ENST00000544287.1_Silent_p.S226S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	593					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)		CCAGAAGGTCGGAGAGGCGCT	0.597											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0								G	,	1,4405	2.1+/-5.4	0,1,2202	33	37	36		1587,1779	-10.4	0.1	19		36	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GYS1	NM_001161587.1,NM_002103.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	529/674,593/738	49473833	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2997				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.1779C>T	19.37:g.49473833G>A		962	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		A	49473833	G	A	49473833	2	1	43	1	0	0	0	0	0	0	0	1	6912	1103	39	1		1	GYS1	19	49473833	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	267408	49473833	9655150	970	4147											
NTF4	4909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	49564657	49564657	+	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	ccggctgaggagtgtgcagaCgcaggcagtgtcaattcgaa	10	7	15	9	3	1	2	1	1	0	1	2	4	1	3	1	3	1	4	1	3	2	1	rs200081067		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49564657C>T	ENST00000593537.1	-	1	597	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	NTF4_ENST00000451356.2_Intron|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000594938.1_5'Flank|CGB7_ENST00000356213.4_5'Flank|CGB7_ENST00000597853.1_5'Flank|CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000301411.3_Missense_Mutation_p.V200I			P34130	NTF4_HUMAN	neurotrophin 4	200					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)		AGTGTGCAGACGCAGGCAGTG	0.602																																						.											0													37	34	35					19																	49564657		2203	4300	6503	SO:0001583	missense	4909				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.598G>A	19.37:g.49564657C>T	ENSP00000469455:p.Val200Ile		Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387981	0.82902	.	.	ENSG00000167744	ENST00000301411	T	0.72835	-0.69	3.27	3.27	0.37495	Nerve growth factor-related (5);	0.000000	0.64402	D	0.000013	T	0.78168	0.4241	M	0.64170	1.965	0.54753	D	0.999981	D	0.76494	0.999	P	0.58454	0.839	T	0.82067	-0.0641	10	0.87932	D	0	-2.3554	14.4638	0.67470	0.0:1.0:0.0:0.0	.	200	P34130	NTF4_HUMAN	I	200	ENSP00000301411:V200I	ENSP00000301411:V200I	V	-	1	0	NTF4	54256469	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	7.450000	0.80656	2.150000	0.67090	0.313000	0.20887	GTC		0.602	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		T	49564657	C	T	49564657	3	4	43	1	0	0	0	0	1	0	0	0	10697	536	19	1	38	1	NTF4	19	49564657	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	90824	49564657	9564326	971	4148											
AP2A1	160	hgsc.bcm.edu	37	chr19	50305240	50305240	+	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	gacctgcgcttcctacagtcGacgccctcgccctccgccga	5	7	9	20	6	0	0	0	0	0	0	4	3	2	0	6	0	2	1	6	0	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50305240G>A	ENST00000359032.5	+	15	1956	c.1956G>A	c.(1954-1956)tcG>tcA	p.S652S	AP2A1_ENST00000354293.5_Silent_p.S652S	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	652					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)		TCCTACAGTCGACGCCCTCGC	0.731																																						.											0													5	7	6					19																	50305240		1835	3913	5748	SO:0001819	synonymous_variant	160			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.1956G>A	19.37:g.50305240G>A			Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	CCDS46148.1																																																																																				0.731	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			A	50305240	G	A	50305240	2	1	43	1	0	0	0	0	0	0	0	1	739	1045	37	1		1	AP2A1	19	50305240	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	740583	50305240	8823743	972	4149											
ZNF473	25888	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	50548036	50548036	+	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	ggcttctggaactccaatttCggagaagcctgtatagagga	11	10	12	8	1	1	2	0	0	1	2	3	5	2	4	2	4	2	2	2	4	5	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ZNF473_ENST00000391821.2_Silent_p.F112F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000270617.3_Silent_p.F112F|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	112					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473																																						.											0													64	64	64					19																	50548036		2203	4300	6503	SO:0001819	synonymous_variant	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.336C>T	19.37:g.50548036C>T			A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	CCDS33077.1																																																																																				0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		T	50548036	C	T	50548036	2	4	43	1	0	0	0	0	0	0	0	1	17928	883	31	1		1	ZNF473	19	50548036	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	242796	50548036	8580947	973	4150											
MYH14	79784	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr19	50760714	50760714	+	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	acaccaaccccagttttgtcCgctgcattgtccccaaccac	9	9	5	18	1	0	0	0	0	0	0	2	0	2	0	7	0	3	3	7	0	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50760714C>T	ENST00000596571.1	+	15	2080	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C	MYH14_ENST00000440075.2_Missense_Mutation_p.R735C|MYH14_ENST00000262269.8_Missense_Mutation_p.R735C|MYH14_ENST00000425460.1_Missense_Mutation_p.R702C|MYH14_ENST00000376970.2_Missense_Mutation_p.R727C|MYH14_ENST00000601313.1_Missense_Mutation_p.R735C|MYH14_ENST00000598205.1_Missense_Mutation_p.R702C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	694	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)		CAGTTTTGTCCGCTGCATTGT	0.612																																						.											0													31	34	33					19																	50760714		2136	4251	6387	SO:0001583	missense	79784			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.2080C>T	19.37:g.50760714C>T	ENSP00000472819:p.Arg694Cys		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660691	0.88154	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.51	4.51	0.55191	Myosin head, motor domain (2);	.	.	.	.	D	0.97315	0.9122	H	0.98701	4.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.98463	1.0597	9	0.87932	D	0	.	15.1131	0.72375	0.0:1.0:0.0:0.0	.	735;694;702	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	694;735;727;702;694;735	ENSP00000406273:R735C;ENSP00000366169:R727C;ENSP00000407879:R702C;ENSP00000262269:R735C	ENSP00000262269:R735C	R	+	1	0	MYH14	55452526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.546000	0.82137	2.520000	0.84964	0.655000	0.94253	CGC		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50760714	C	T	50760714	3	4	43	1	0	0	0	0	1	0	0	0	10033	652	23	1	2269	1	MYH14	19	50760714	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	212678	50760714	8368269	974	4151											
LRRC4B	94030	broad.mit.edu	37	chr19	51021776	51021776	+	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	gtcatgagggtgccgttgggCgtcagccagttgacggaggt	6	9	18	8	3	2	2	2	2	0	0	2	3	2	3	2	4	2	2	2	4	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51021776C>T	ENST00000599957.1	-	3	1391	c.1194G>A	c.(1192-1194)acG>acA	p.T398T	LRRC4B_ENST00000389201.3_Silent_p.T398T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	398	Ig-like C2-type.				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)		TGCCGTTGGGCGTCAGCCAGT	0.647																																						.											0													61	71	68					19																	51021776		2190	4279	6469	SO:0001819	synonymous_variant	94030			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.1194G>A	19.37:g.51021776C>T			Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	CCDS42595.1																																																																																				0.647	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		T	51021776	C	T	51021776	2	4	43	1	0	0	0	0	0	0	0	1	9007	755	27	1		1	LRRC4B	19	51021776	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	261062	51021776	8107207	975	4152											
SIGLEC7	27036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	51646040	51646040	+	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	tggaattataaatatgaccaGctctctgtgaacgtgacagg	13	11	10	7	1	1	3	0	3	1	0	2	4	1	4	1	2	2	1	1	2	6	3	rs541602063		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51646040G>A	ENST00000317643.6	+	1	483	c.414G>A	c.(412-414)caG>caA	p.Q138Q	SIGLEC7_ENST00000600577.1_Silent_p.Q138Q|SIGLEC7_ENST00000305628.7_Silent_p.Q138Q	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	138					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AATATGACCAGCTCTCTGTGA	0.483													.|||	1	0.000199681	0	0	5008	,	,		20713	0.001		0	False		,,,				2504	0					.											0													68	73	71					19																	51646040		2203	4300	6503	SO:0001819	synonymous_variant	27036			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.414G>A	19.37:g.51646040G>A			Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	CCDS12826.1																																																																																				0.483	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		A	51646040	G	A	51646040	2	1	43	1	0	0	0	0	0	0	0	1	14313	962	34	4		4	SIGLEC7	19	51646040	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	624264	51646040	7482943	976	4153											
CD33	945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	51738931	51738931	+	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	accacagggtcagcctccccGgtgagtgatggggcatcctg	7	7	14	13	1	1	2	1	2	0	0	3	2	3	2	5	4	1	1	5	4	0	0	rs111722079		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51738931G>A	ENST00000262262.4	+	6	945	c.924G>A	c.(922-924)ccG>ccA	p.P308P	CD33_ENST00000436584.2_Silent_p.P181P|CD33_ENST00000391796.3_Splice_Site_p.P308P|CD33_ENST00000421133.2_Splice_Site_p.P181P	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	308					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGCCTCCCCGGTGAGTGATG	0.597													g|||	1	0.000199681	0	0	5008	,	,		16666	0		0.001	False		,,,				2504	0					.											0								G	,,	0,4406		0,0,2203	68	58	61		543,924,924	2.7	0.8	19	dbSNP_132	61	8,8588	6.4+/-24.3	0,8,4290	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	,,	0,8,6493	AA,AG,GG		0.0931,0.0,0.0615	,,	181/238,308/311,308/365	51738931	8,12994	2203	4298	6501	SO:0001630	splice_region_variant	945			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.924+1G>A	19.37:g.51738931G>A			B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	ENST00000262262.4	37	CCDS33084.1																																																																																				0.597	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772	Silent	A	51738931	G	A	51738931	5	1	43	1	0	0	0	0	0	0	1	0	3005	1130	39	1	946	1	CD33	19	51738931	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	92891	51738931	7390052	977	4154											
HAS1	3036	hgsc.bcm.edu	37	chr19	52217097	52217097	+	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	gccgccttggccagtgccacGccctgcacgcacagcagcac	7	4	11	19	3	0	0	0	0	0	0	0	0	0	0	5	1	4	4	5	1	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52217097G>A	ENST00000222115.1	-	5	1354	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	HAS1_ENST00000540069.2_Silent_p.G439G|HAS1_ENST00000601714.1_Silent_p.G447G	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	440					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)		CCAGTGCCACGCCCTGCACGC	0.697																																					NSCLC(132;636 2450 45807 47979)	.											0													21	21	21					19																	52217097		2188	4289	6477	SO:0001819	synonymous_variant	3036			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.1320C>T	19.37:g.52217097G>A			Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																				0.697	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		A	52217097	G	A	52217097	2	1	43	1	0	0	0	0	0	0	0	1	6961	1074	38	1		1	HAS1	19	52217097	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	478166	52217097	6911886	978	4155											
ZNF616	90317	broad.mit.edu;mdanderson.org	37	chr19	52619951	52619951	+	Missense_Mutation	SNP	T	T	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	ttcataaagtctcccttcagTttgaactttctgcagttcag	9	16	6	10	0	5	1	3	1	2	0	6	1	5	1	1	0	2	3	1	0	3	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52619951T>C	ENST00000600228.1	-	4	727	c.466A>G	c.(466-468)Act>Gct	p.T156A	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTCCCTTCAGTTTGAACTTTC	0.363																																						.											0													161	148	153					19																	52619951		2202	4300	6502	SO:0001583	missense	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.466A>G	19.37:g.52619951T>C	ENSP00000471000:p.Thr156Ala		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723677	0.48728	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.57	0.191	0.15130	.	.	.	.	.	T	0.49729	0.1574	M	0.75264	2.295	0.23727	N	0.997009	P	0.45569	0.861	P	0.51701	0.677	T	0.38001	-0.9681	8	0.45353	T	0.12	.	6.4896	0.22107	0.0:0.0:0.2421:0.7579	.	156	Q08AN1	ZN616_HUMAN	A	156	.	ENSP00000328722:T156A	T	-	1	0	ZNF616	57311763	0.000000	0.05858	0.011000	0.14972	0.036000	0.12997	0.067000	0.14510	0.701000	0.31803	0.254000	0.18369	ACT		0.363	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		C	52619951	T	C	52619951	3	2	43	1	0	0	0	0	1	0	0	0	18038	1725	60	2	1883	2	ZNF616	19	52619951	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	402854	52619951	6509032	979	4156											
ZNF534	147658	broad.mit.edu	37	chr19	52941908	52941908	+	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	ttggcaattcacgccttgcaCgacataggaaaattcatact	13	11	7	10	2	2	0	2	0	0	0	2	2	2	1	1	2	2	2	1	2	5	6	rs199880338		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52941908C>T	ENST00000332323.6	+	4	1295	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZNF534_ENST00000433050.1_Nonsense_Mutation_p.R399*|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	412					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)|lung(1)|prostate(1)|skin(1)	4						ACGCCTTGCACGACATAGGAA	0.423													C|||	1	0.000199681	0	0	5008	,	,		23868	0		0	False		,,,				2504	0.001					.											0								C	stop/ARG,stop/ARG	0,1384		0,0,692	87	79	81		1195,1234	-2.5	0	19		81	1,3181		0,1,1590	no	stop-gained,stop-gained	ZNF534	NM_001143938.1,NM_001143939.1	,	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	,	399/662,412/675	52941908	1,4565	692	1591	2283	SO:0001587	stop_gained	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1234C>T	19.37:g.52941908C>T	ENSP00000327538:p.Arg412*		Q76KX9	Nonsense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450957	0.43531	0.0	3.14E-4	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	.	.	.	1.76	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	0.327	0.00312	0.1935:0.2786:0.1922:0.3357	.	.	.	.	X	412;399;411	.	ENSP00000327538:R412X	R	+	1	2	ZNF534	57633720	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-9.090000	0.00014	-0.646000	0.05452	0.411000	0.27672	CGA		0.423	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		T	52941908	C	T	52941908	4	4	43	1	0	0	0	0	0	1	0	0	17970	528	19	1	1248	1	ZNF534	19	52941908	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	321957	52941908	6187075	980	4157											
TSEN34	79042	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	54696083	54696083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggccaggcccctggacTggcgtgtccagtctaaagac	9	7	12	13	1	2	1	1	0	1	1	3	2	3	2	4	4	0	0	4	4	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:54696083T>C	ENST00000396383.1	+	4	915	c.604T>C	c.(604-606)Tgg>Cgg	p.W202R	MBOAT7_ENST00000431666.2_5'Flank|TSEN34_ENST00000396388.2_Missense_Mutation_p.W202R|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_Missense_Mutation_p.W202R|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000245615.1_5'Flank|TSEN34_ENST00000429671.2_Missense_Mutation_p.W202R|MBOAT7_ENST00000338624.6_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	202					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCCTGGACTGGCGTGTCCA	0.647																																					Esophageal Squamous(37;841 964 4869 42824)	.											0													53	56	55					19																	54696083		1873	4083	5956	SO:0001583	missense	79042			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"tRNA splicing endonuclease subunits"	15506	protein-coding gene	gene with protein product		608754	"leukocyte receptor cluster (LRC) member 5", "tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)", "tRNA splicing endonuclease 34 homolog (S. cerevisiae)"	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.604T>C	19.37:g.54696083T>C	ENSP00000379667:p.Trp202Arg		A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	ENST00000396383.1	37	CCDS42609.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054183	0.36277	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.62941	-0.01;0.02;0.03;0.02;0.03;0.03	4.56	4.56	0.56223	.	0.135233	0.53938	D	0.000042	T	0.41534	0.1163	N	0.24115	0.695	0.33529	D	0.593424	B;B	0.31968	0.15;0.349	B;B	0.24848	0.041;0.056	T	0.50701	-0.8797	10	0.10377	T	0.69	.	11.7599	0.51896	0.0:0.0:0.0:1.0	.	202;202	E7EQB3;Q9BSV6	.;SEN34_HUMAN	R	202;205;202;202;202;202	ENSP00000400743:W202R;ENSP00000408689:W205R;ENSP00000305524:W202R;ENSP00000397402:W202R;ENSP00000379667:W202R;ENSP00000379671:W202R	ENSP00000305524:W202R	W	+	1	0	TSEN34	59387895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.144000	0.31565	1.842000	0.53543	0.459000	0.35465	TGG		0.647	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		C	54696083	T	C	54696083	3	2	43	1	0	0	0	0	1	0	0	0	16610	1580	55	2	614	2	TSEN34	19	54696083	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1754175	54696083	4432900	981	4158											
LENG8	114823	hgsc.bcm.edu;mdanderson.org	37	chr19	54966579	54966579	+	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	gggaacctgtctgggaagccCgatgactggccccaggacat	9	6	14	12	1	1	1	0	1	1	0	1	5	1	4	4	4	2	0	4	4	2	0	rs889147	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:54966579C>T	ENST00000326764.5	+	8	1337	c.858C>T	c.(856-858)ccC>ccT	p.P286P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	249										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CTGGGAAGCCCGATGACTGGC	0.617																																						.											0													51	59	56					19																	54966579		2202	4300	6502	SO:0001819	synonymous_variant	114823			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.858C>T	19.37:g.54966579C>T			B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	CCDS12894.1																																																																																				0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		T	54966579	C	T	54966579	2	4	43	1	0	0	0	0	0	0	0	1	8724	639	23	1		1	LENG8	19	54966579	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	270496	54966579	4162404	982	4159											
KIR3DL3	115653	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	55239156	55239156	+	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	acggtcatcctgcaatgttgGtcagatgtcaggtttgagcg	8	12	13	8	2	3	2	3	1	0	1	4	2	4	2	1	3	2	3	1	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:55239156G>A	ENST00000291860.1	+	4	453	c.435G>A	c.(433-435)tgG>tgA	p.W145*	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	145	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGCAATGTTGGTCAGATGTCA	0.572																																						.											0													30	24	26					19																	55239156		1948	3303	5251	SO:0001587	stop_gained	115653			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.435G>A	19.37:g.55239156G>A	ENSP00000291860:p.Trp145*		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Nonsense_Mutation	SNP	ENST00000291860.1	37	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	11.70	1.716055	0.30413	.	.	ENSG00000242019	ENST00000291860	.	.	.	1.38	-2.75	0.05914	.	1.619910	0.04495	U	0.380315	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4034	0.07332	0.0:0.3197:0.4555:0.2248	.	.	.	.	X	145	.	ENSP00000291860:W145X	W	+	3	0	KIR3DL3	59930968	0.001000	0.12720	0.000000	0.03702	0.051000	0.14879	-0.574000	0.05868	-0.726000	0.04895	0.205000	0.17691	TGG		0.572	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		A	55239156	G	A	55239156	4	1	43	1	0	0	0	0	0	1	0	0	8322	1270	44	3	449	3	KIR3DL3	19	55239156	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	272577	55239156	3889827	983	4160											
ZNF628	89887	mdanderson.org	37	chr19	55995597	55995597	+	Missense_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	caggcccagcctcgggccccGcggggctccccggggctcca	3	3	15	20	4	0	0	0	0	0	0	3	0	2	0	7	6	1	2	7	6	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:55995597G>A	ENST00000598519.1	+	3	3590	c.3037G>A	c.(3037-3039)Gcg>Acg	p.A1013T	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A1009T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	1013					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)		CTCGGGCCCCGCGGGGCTCCC	0.716																																						.											0													3	3	3					19																	55995597		1920	3767	5687	SO:0001583	missense	89887			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.3037G>A	19.37:g.55995597G>A	ENSP00000469591:p.Ala1013Thr		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	7.440	0.640533	0.14386	.	.	ENSG00000197483	ENST00000391718	T	0.07908	3.15	2.98	1.92	0.25849	.	0.899723	0.09173	N	0.838513	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.41233	-0.9520	10	0.41790	T	0.15	-0.551	5.8577	0.18728	0.1534:0.0:0.8466:0.0	.	1009	Q5EBL2	ZN628_HUMAN	T	1009	ENSP00000375598:A1009T	ENSP00000375598:A1009T	A	+	1	0	ZNF628	60687409	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.543000	0.23237	0.601000	0.29879	0.472000	0.43445	GCG		0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		A	55995597	G	A	55995597	3	1	43	1	0	0	0	0	1	0	0	0	18049	1087	38	1	3027	1	ZNF628	19	55995597	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	756441	55995597	3133386	984	4161											
ZNF835	90485	mdanderson.org	37	chr19	57175578	57175578	+	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	cgcacgcgtagggcttctcgCctgtgtggatgcgccggtgc	3	9	16	13	6	1	0	0	0	1	0	2	1	1	1	2	3	2	3	2	3	1	2	rs12610410	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57175578C>T	ENST00000537055.2	-	2	1220	c.989G>A	c.(988-990)gGc>gAc	p.G330D		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGCTTCTCGCCTGTGTGGAT	0.706													.|||	598	0.119409	0.0817	0.0692	5008	,	,		17838	0.1667		0.1223	False		,,,				2504	0.1544					.											0								C	ASP/GLY	316,4088		23,270,1909	19	19	19		989	2.1	0	19	dbSNP_120	19	1177,7417		79,1019,3199	yes	missense	ZNF835	NM_001005850.2	94	102,1289,5108	TT,TC,CC		13.6956,7.1753,11.4864	probably-damaging	330/538	57175578	1493,11505	2202	4297	6499	SO:0001583	missense	90485			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.989G>A	19.37:g.57175578C>T	ENSP00000444747:p.Gly330Asp		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	263	0.12042124542124542	54	0.10975609756097561	25	0.06906077348066299	99	0.17307692307692307	85	0.11213720316622691	C	21.3	4.123991	0.77436	0.071753	0.136956	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.26660	1.72	2.12	2.12	0.27331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00178	0.0005	M	0.64676	1.99	0.31405	P	0.676168	D	0.89917	1.0	D	0.85130	0.997	T	0.09707	-1.0662	8	0.66056	D	0.02	.	11.9519	0.52961	0.0:1.0:0.0:0.0	rs12610410	352	Q9Y2P0	ZN835_HUMAN	D	352;330	ENSP00000444747:G330D	ENSP00000341756:G352D	G	-	2	0	ZNF835	61867390	0.926000	0.31397	0.003000	0.11579	0.279000	0.26890	4.604000	0.61112	1.502000	0.48669	0.561000	0.74099	GGC		0.706	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		T	57175578	C	T	57175578	3	4	43	1	0	0	0	0	1	0	0	0	18183	739	26	3	626	3	ZNF835	19	57175578	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1179981	57175578	1953405	985	4162											
ZIM3	114026	broad.mit.edu	37	chr19	57647366	57647366	+	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	cattctacacctttctgcgtAgtcagcgtttccttattgat	7	17	6	11	2	3	1	1	1	2	0	4	1	4	1	2	0	3	2	2	0	3	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57647366A>G	ENST00000269834.1	-	5	724	c.339T>C	c.(337-339)acT>acC	p.T113T	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	113					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)		CTTTCTGCGTAGTCAGCGTTT	0.413																																						.											0													203	197	199					19																	57647366		2203	4300	6503	SO:0001819	synonymous_variant	114026			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.339T>C	19.37:g.57647366A>G			Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.413	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			G	57647366	A	G	57647366	2	3	43	1	0	0	0	0	0	0	0	1	17682	407	15	2		2	ZIM3	19	57647366	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	471788	57647366	1481617	986	4163											
ZNF805	390980	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	57765510	57765510	+	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	gccttcacccactgctctacTttcatcttgcataaaagggc	9	12	6	14	0	4	0	2	0	2	0	4	0	4	0	2	1	3	2	2	1	3	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57765510T>G	ENST00000414468.2	+	4	1323	c.1323T>G	c.(1321-1323)acT>acG	p.T441T	ZNF805_ENST00000535550.1_Silent_p.T308T|ZNF805_ENST00000354309.4_Silent_p.T308T	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGCTCTACTTTCATCTTGC	0.498																																						.											0													48	49	49					19																	57765510		692	1591	2283	SO:0001819	synonymous_variant	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1323T>G	19.37:g.57765510T>G			B4DNM5	Silent	SNP	ENST00000414468.2	37	CCDS46207.1																																																																																				0.498	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		G	57765510	T	G	57765510	2	3	43	1	0	0	0	0	0	0	0	1	18169	1596	56	5		5	ZNF805	19	57765510	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	118144	57765510	1363473	987	4164											
ZNF773	374928	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	58017797	58017797	+	Missense_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	tagaagtgcccagttcaaacGttcagcaacaccagaagcag	15	6	9	11	1	2	2	2	0	0	2	2	2	2	2	2	0	5	4	2	0	5	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:58017797G>A	ENST00000282292.4	+	4	474	c.334G>A	c.(334-336)Gtt>Att	p.V112I	ZNF773_ENST00000598770.1_Missense_Mutation_p.V111I|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		CAGTTCAAACGTTCAGCAACA	0.488																																						.											0													94	96	95					19																	58017797		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.334G>A	19.37:g.58017797G>A	ENSP00000282292:p.Val112Ile		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	5.699	0.313462	0.10789	.	.	ENSG00000152439	ENST00000282292	T	0.05855	3.38	1.25	-1.2	0.09554	.	.	.	.	.	T	0.02767	0.0083	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.44112	-0.9349	9	0.49607	T	0.09	.	0.4362	0.00479	0.2328:0.3037:0.2641:0.1993	.	111;112	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	I	112	ENSP00000282292:V112I	ENSP00000282292:V112I	V	+	1	0	ZNF773	62709609	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-1.381000	0.02549	-0.307000	0.08804	0.313000	0.20887	GTT		0.488	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		A	58017797	G	A	58017797	3	1	43	1	0	0	0	0	1	0	0	0	18143	1145	40	1	348	1	ZNF773	19	58017797	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	252287	58017797	1111186	988	4165											
ZNF776	284309	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	58264681	58264681	+	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	tgttggtatggagcaaaagaCgagacaccttctaagcagac	14	8	11	8	1	1	3	0	0	1	3	1	5	1	4	1	2	2	4	1	2	4	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:58264681C>T	ENST00000317178.5	+	3	446	c.183C>T	c.(181-183)gaC>gaT	p.D61D	ZNF776_ENST00000431353.1_3'UTR|AC003006.7_ENST00000594684.1_Silent_p.D61D	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	61	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)			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)		GAGCAAAAGACGAGACACCTT	0.443																																						.											0													122	124	123					19																	58264681		2203	4300	6503	SO:0001819	synonymous_variant	284309			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.183C>T	19.37:g.58264681C>T			Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	CCDS12962.2																																																																																				0.443	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		T	58264681	C	T	58264681	2	4	43	1	0	0	0	0	0	0	0	1	18146	535	19	1		1	ZNF776	19	58264681	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	246884	58264681	864302	989	4166											
RBCK1	10616	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	398443	398443	+	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	tgggcagcggctggcacgagAccaggagaccctgcactccc	8	4	14	15	2	0	2	0	0	0	2	1	4	1	2	3	4	2	4	3	4	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:398443A>T	ENST00000356286.5	+	4	1034	c.329A>T	c.(328-330)gAc>gTc	p.D110V	RBCK1_ENST00000353660.3_Missense_Mutation_p.D68V|RBCK1_ENST00000382181.2_5'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	110	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				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)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CTGGCACGAGACCAGGAGACC	0.612																																						.											0													48	41	43					20																	398443		2203	4300	6503	SO:0001583	missense	10616			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.329A>T	20.37:g.398443A>T	ENSP00000348632:p.Asp110Val		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.453339|4.453339	0.84209|0.84209	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243|ENST00000414880	T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Ubiquitin supergroup (1);|.	0.051204|.	0.85682|.	D|.	0.000000|.	T|T	0.71634|0.71634	0.3363|0.3363	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.997|.	D;D;D|.	0.91635|.	0.999;0.986;0.925|.	T|T	0.72388|0.72388	-0.4309|-0.4309	10|5	0.87932|.	D|.	0|.	-22.682|-22.682	12.5534|12.5534	0.56240|0.56240	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	100;68;110|.	B4E0F5;Q9BYM8-3;Q9BYM8|.	.;.;HOIL1_HUMAN|.	V|S	110;110;109;68;110;151|143	ENSP00000415080:D110V;ENSP00000348632:D110V;ENSP00000387799:D109V;ENSP00000254960:D68V|.	ENSP00000254960:D68V|.	D|T	+|+	2|1	0|0	RBCK1|RBCK1	346443|346443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.134000|5.134000	0.64770|0.64770	2.131000|2.131000	0.65755|0.65755	0.374000|0.374000	0.22700|0.22700	GAC|ACC		0.612	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		T	398443	A	T	398443	3	4	43	1	0	0	0	0	1	0	0	0	13107	275	10	5	362	5	RBCK1	20	398443	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10		398443	62627077	990	4167											
TBC1D20	128637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	420958	420958	+	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	aagtcatataaccgcacgacGtgcctgaagtcagacaggac	14	6	10	11	3	2	2	2	1	0	1	2	4	2	3	2	1	2	1	2	1	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:420958G>A	ENST00000354200.4	-	6	849	c.702C>T	c.(700-702)caC>caT	p.H234H	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	234	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)				ACCGCACGACGTGCCTGAAGT	0.552																																						.											0													111	89	96					20																	420958		2203	4300	6503	SO:0001819	synonymous_variant	128637			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.702C>T	20.37:g.420958G>A			A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Silent	SNP	ENST00000354200.4	37	CCDS13002.1																																																																																				0.552	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		A	420958	G	A	420958	2	1	43	1	0	0	0	0	0	0	0	1	15606	1136	40	1		1	TBC1D20	20	420958	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	22515	420958	62604562	991	4168											
FAM110A	83541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	826273	826273	+	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	cggtggtggagcgcaatgccCgcgtgatcaagtggttgtat	7	10	16	8	4	1	1	1	1	0	0	1	2	1	2	1	4	2	3	1	4	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:826273C>T	ENST00000304189.2	+	3	1207	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	FAM110A_ENST00000381941.3_Missense_Mutation_p.R276C|FAM110A_ENST00000541082.1_Missense_Mutation_p.R276C|FAM110A_ENST00000381939.1_Missense_Mutation_p.R276C|FAM110A_ENST00000246100.3_Missense_Mutation_p.R276C			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	276						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|lung(2)	3						GCGCAATGCCCGCGTGATCAA	0.657																																						.											0													54	63	60					20																	826273		2203	4300	6503	SO:0001583	missense	83541			BC012800	CCDS13008.1	20p13	2007-06-21	2007-03-21	2007-03-21	ENSG00000125898	ENSG00000125898			16188	protein-coding gene	gene with protein product		611393	"chromosome 20 open reading frame 55"	C20orf55		17499476	Standard	NM_001042353		Approved	bA371L19.3	uc002wef.1	Q9BQ89	OTTHUMG00000031649	ENST00000304189.2:c.826C>T	20.37:g.826273C>T	ENSP00000354163:p.Arg276Cys		D3DVW2|Q5R1M7	Missense_Mutation	SNP	ENST00000304189.2	37	CCDS13008.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.389789	0.82902	.	.	ENSG00000125898	ENST00000381941;ENST00000304189;ENST00000381939;ENST00000246100;ENST00000541082	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000006	D	0.84745	0.5540	M	0.83384	2.64	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.87576	0.2481	10	0.87932	D	0	-3.4911	15.6478	0.77068	0.0:1.0:0.0:0.0	.	276	Q9BQ89	F110A_HUMAN	C	276	ENSP00000371367:R276C;ENSP00000354163:R276C;ENSP00000371365:R276C;ENSP00000246100:R276C;ENSP00000445228:R276C	ENSP00000246100:R276C	R	+	1	0	FAM110A	774273	0.955000	0.32602	1.000000	0.80357	0.987000	0.75469	1.451000	0.35145	2.269000	0.75478	0.484000	0.47621	CGC		0.657	FAM110A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077489.1	NM_031424		T	826273	C	T	826273	3	4	43	1	0	0	0	0	1	0	0	0	5396	652	23	1	828	1	FAM110A	20	826273	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	405315	826273	62199247	992	4169											
SNRPB	6628	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	2442418	2442418	+	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	gagtctagggccttggtgggCgcattcccgggggagggggc	4	7	21	9	2	1	0	0	0	1	0	2	2	2	1	2	7	0	1	2	7	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2442418C>T	ENST00000438552.2	-	7	869	c.707G>A	c.(706-708)cGc>cAc	p.R236H	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)	p.R236H(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTGGTGGGCGCATTCCCGG	0.542																																						.											1	Substitution - Missense(1)	kidney(1)											47	51	50					20																	2442418		2203	4300	6503	SO:0001583	missense	6628				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.707G>A	20.37:g.2442418C>T	ENSP00000412566:p.Arg236His		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892568	0.33442	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.44881	0.91	4.7	1.51	0.23008	.	0.298090	0.36338	N	0.002646	T	0.26195	0.0639	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06534	-1.0821	10	0.87932	D	0	.	7.9054	0.29759	0.0:0.7006:0.0:0.2994	.	236	P14678	RSMB_HUMAN	H	236;284	ENSP00000412566:R236H	ENSP00000303591:R284H	R	-	2	0	SNRPB	2390418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.285000	0.33261	0.234000	0.21139	0.561000	0.74099	CGC		0.542	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			T	2442418	C	T	2442418	3	4	43	1	0	0	0	0	1	0	0	0	14861	768	27	1	19	1	SNRPB	20	2442418	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1616145	2442418	60583102	993	4170											
ZNF343	79175	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr20	2464066	2464066	+	Missense_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	aaggcttctcatttgagtgcGtcctctggtgtctgatgaga	7	14	12	8	1	3	3	1	3	3	1	5	4	4	3	1	2	1	1	1	2	1	2	rs139834625	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2464066G>A	ENST00000278772.4	-	6	2028	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	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	514					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						ATTTGAGTGCGTCCTCTGGTG	0.493													G|||	24	0.00479233	0.0166	0.0014	5008	,	,		21849	0		0.001	False		,,,				2504	0					.											0								G	MET/THR	37,4369	42.3+/-75.8	0,37,2166	132	121	125		1541	-4.2	0	20	dbSNP_134	125	0,8600		0,0,4300	yes	missense	ZNF343	NM_024325.4	81	0,37,6466	AA,AG,GG		0.0,0.8398,0.2845	probably-damaging	514/600	2464066	37,12969	2203	4300	6503	SO:0001583	missense	79175			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.1541C>T	20.37:g.2464066G>A	ENSP00000278772:p.Thr514Met		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	G	11.96	1.794078	0.31777	0.008398	0.0	ENSG00000088876	ENST00000278772	T	0.54279	0.58	2.57	-4.18	0.03846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53384	0.1793	L	0.53561	1.675	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57236	-0.7846	9	0.59425	D	0.04	.	9.4035	0.38447	0.7197:0.0:0.2803:0.0	.	514	Q6P1L6	ZN343_HUMAN	M	514	ENSP00000278772:T514M	ENSP00000278772:T514M	T	-	2	0	ZNF343	2412066	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.510000	0.06328	-1.297000	0.02351	-0.216000	0.12614	ACG		0.493	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		A	2464066	G	A	2464066	3	1	43	1	0	0	0	0	1	0	0	0	17855	1145	40	1	262	1	ZNF343	20	2464066	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	21648	2464066	60561454	994	4171											
TMC2	117532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	2560637	2560637	+	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	catcgtatttcatctttctcCgatggatgtatggagttaac	9	16	8	8	2	3	0	1	0	2	0	5	3	3	2	1	2	1	3	1	2	3	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2560637C>T	ENST00000358864.1	+	7	784	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	257					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATCTTTCTCCGATGGATGTA	0.398																																						.											0													243	210	221					20																	2560637		2203	4300	6503	SO:0001587	stop_gained	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.769C>T	20.37:g.2560637C>T	ENSP00000351732:p.Arg257*		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Nonsense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	37	6.154665	0.97329	.	.	ENSG00000149488	ENST00000358864	.	.	.	5.12	4.14	0.48551	.	0.139429	0.47852	D	0.000214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4483	10.8042	0.46507	0.3434:0.6566:0.0:0.0	.	.	.	.	X	257	.	ENSP00000351732:R257X	R	+	1	2	TMC2	2508637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.957000	0.49137	1.232000	0.43678	0.563000	0.77884	CGA		0.398	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			T	2560637	C	T	2560637	4	4	43	1	0	0	0	0	0	1	0	0	15982	644	23	1	795	1	TMC2	20	2560637	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	96571	2560637	60464883	995	4172											
PRNP	5621	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	4680473	4680473	+	Missense_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	agaacttcaccgagaccgacGttaagatgatggagcgcgtg	12	7	13	9	5	1	4	1	1	0	3	1	7	1	5	2	1	2	1	2	1	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:4680473G>A	ENST00000379440.4	+	2	894	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PRNP_ENST00000430350.2_Missense_Mutation_p.V203I	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CGAGACCGACGTTAAGATGAT	0.522																																						.											0			GRCh37	CM001314	PRNP	M							176	151	159					20																	4680473		2203	4300	6503	SO:0001583	missense	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.607G>A	20.37:g.4680473G>A	ENSP00000368752:p.Val203Ile			Missense_Mutation	SNP	ENST00000379440.4	37	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	G	0.827	-0.746602	0.03065	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.36	5.39	-4.2	0.03823	Prion/Doppel protein, beta-ribbon domain (4);	0.953375	0.08715	N	0.904371	T	0.80819	0.4696	N	0.20807	0.61	0.09310	N	1	B;B;B	0.25521	0.002;0.002;0.128	B;B;B	0.19148	0.003;0.002;0.024	T	0.67933	-0.5542	10	0.02654	T	1	-0.7995	11.8224	0.52247	0.68:0.0:0.32:0.0	.	203;203;235	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	I	203;203;203;142;203	ENSP00000368752:V203I;ENSP00000399376:V203I;ENSP00000411599:V203I;ENSP00000415284:V203I	ENSP00000368752:V203I	V	+	1	0	PRNP	4628473	0.000000	0.05858	0.041000	0.18516	0.863000	0.49368	-0.472000	0.06623	-0.660000	0.05352	-0.136000	0.14681	GTT		0.522	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		A	4680473	G	A	4680473	3	1	43	1	0	0	0	0	1	0	0	0	12544	1145	40	1	609	1	PRNP	20	4680473	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2119836	4680473	58345047	996	4173											
C20orf196	149840	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	5843951	5843951	+	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	tggcccgggtgatcttcaacCgggacggctgctccgtctta	5	10	13	13	4	3	1	1	1	2	0	4	2	4	2	3	4	2	2	3	4	2	2	rs140278441		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:5843951C>T	ENST00000303142.6	+	3	547	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	154										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GATCTTCAACCGGGACGGCTG	0.522																																						.											0								C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	58	57	57		460	3.9	1	20	dbSNP_134	57	0,8600		0,0,4300	no	missense	C20orf196	NM_152504.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	154/206	5843951	2,13004	2203	4300	6503	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.460C>T	20.37:g.5843951C>T	ENSP00000305875:p.Arg154Trp		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157705	0.38119	4.54E-4	0.0	ENSG00000171984	ENST00000303142	T	0.55588	0.51	5.86	3.92	0.45320	.	0.356526	0.24113	N	0.041425	T	0.36082	0.0954	L	0.28115	0.83	0.36750	D	0.88268	B	0.26876	0.162	B	0.20384	0.029	T	0.34775	-0.9815	10	0.54805	T	0.06	-11.3596	7.7804	0.29062	0.16:0.7582:0.0:0.0817	.	154	Q8IYI0	CT196_HUMAN	W	154	ENSP00000305875:R154W	ENSP00000305875:R154W	R	+	1	2	C20orf196	5791951	0.902000	0.30710	0.971000	0.41717	0.576000	0.36127	0.336000	0.19823	0.813000	0.34350	-0.899000	0.02877	CGG		0.522	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		T	5843951	C	T	5843951	3	4	43	1	0	0	0	0	1	0	0	0	2101	643	23	1	466	1	C20orf196	20	5843951	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1163478	5843951	57181569	997	4174											
MACROD2	140733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	16021924	16021924	+	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	aaatactccaggtcctgatgGtaaggttctgagctattgga	11	12	11	7	0	1	2	0	2	1	0	3	3	3	3	2	4	2	3	2	4	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:16021924G>A	ENST00000310348.4	+	16	1231		c.e16+1		MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000407045.3_Splice_Site|MACROD2_ENST00000217246.4_Splice_Site|MACROD2_ENST00000378058.3_Splice_Site			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2						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)				GGTCCTGATGGTAAGGTTCTG	0.443																																						.											0													65	65	65					20																	16021924		2203	4299	6502	SO:0001630	splice_region_variant	140733			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.1231+1G>A	20.37:g.16021924G>A			A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Splice_Site	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926267	0.34002	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3828	0.83481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACROD2	15969924	1.000000	0.71417	0.998000	0.56505	0.191000	0.23601	5.251000	0.65438	2.679000	0.91253	0.655000	0.94253	.		0.443	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Intron	A	16021924	G	A	16021924	5	1	43	1	0	0	0	0	0	0	1	0	9146	1275	44	3	1294	3	MACROD2	20	16021924	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	10177973	16021924	47003596	998	4175											
OVOL2	58495	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr20	18022295	18022295	+	Missense_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	gaggtgacggttcagcatgcGctgcagacggaagcccttgc	8	7	15	11	3	1	2	1	1	0	1	1	4	1	3	1	3	5	4	1	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:18022295G>A	ENST00000278780.6	-	3	636	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	132					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						TTCAGCATGCGCTGCAGACGG	0.597																																						.											0													126	82	97					20																	18022295		2203	4300	6503	SO:0001583	missense	58495			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.394C>T	20.37:g.18022295G>A	ENSP00000278780:p.Arg132Cys		Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	ENST00000278780.6	37	CCDS13132.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645835	0.87958	.	.	ENSG00000125850	ENST00000278780	T	0.76709	-1.04	5.57	4.59	0.56863	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	0.82416	0.5032	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.83289	-0.0034	10	0.56958	D	0.05	-48.5453	14.8485	0.70277	0.0:0.0:0.7425:0.2575	.	132	Q9BRP0	OVOL2_HUMAN	C	132	ENSP00000278780:R132C	ENSP00000278780:R132C	R	-	1	0	OVOL2	17970295	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.724000	0.61972	2.624000	0.88883	0.655000	0.94253	CGC		0.597	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		A	18022295	G	A	18022295	3	1	43	1	0	0	0	0	1	0	0	0	11327	1087	38	1	441	1	OVOL2	20	18022295	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2000371	18022295	45003225	999	4176											
ZNF133	7692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	18287023	18287023	+	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	agaggaaaaaaaatgttcacCggcaacctgtccaggtgagt	15	7	11	8	1	1	2	1	1	0	1	2	3	2	3	3	3	1	2	3	3	5	1	rs149645929		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:18287023C>T	ENST00000316358.4	+	3	300	c.203C>T	c.(202-204)cCg>cTg	p.P68L	ZNF133_ENST00000535822.1_5'UTR|ZNF133_ENST00000402618.2_5'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.P68L|ZNF133_ENST00000396026.3_Missense_Mutation_p.P71L|ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000377671.3_Missense_Mutation_p.P68L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AAATGTTCACCGGCAACCTGT	0.507																																						.											0								C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	51	50	51		203,203	-3	0	20	dbSNP_134	51	0,8600		0,0,4300	no	missense,missense	ZNF133	NM_001083330.1,NM_003434.4	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	68/654,68/654	18287023	1,13005	2203	4300	6503	SO:0001583	missense	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.203C>T	20.37:g.18287023C>T	ENSP00000346090:p.Pro68Leu		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108858	0.06924	2.27E-4	0.0	ENSG00000125846	ENST00000377671;ENST00000360010;ENST00000396026;ENST00000401790;ENST00000434018;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T	0.05996	3.39;5.52;3.36;3.36;5.59;3.36;5.58	4.49	-2.96	0.05547	Krueppel-associated box (1);	0.996321	0.08125	N	0.994047	T	0.02807	0.0084	N	0.13299	0.325	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.48198	-0.9056	10	0.10636	T	0.68	-1.5162	3.469	0.07561	0.4587:0.2608:0.0:0.2805	.	71;68;68	B4DHU7;P52736;P52736-2	.;ZN133_HUMAN;.	L	68;68;71;68;68;68;68	ENSP00000366899:P68L;ENSP00000353105:P68L;ENSP00000400897:P71L;ENSP00000383945:P68L;ENSP00000403835:P68L;ENSP00000346090:P68L;ENSP00000406638:P68L	ENSP00000346090:P68L	P	+	2	0	ZNF133	18235023	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.090000	0.11163	-0.266000	0.09339	-0.136000	0.14681	CCG		0.507	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		T	18287023	C	T	18287023	3	4	43	1	0	0	0	0	1	0	0	0	17720	652	23	1	209	1	ZNF133	20	18287023	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	264728	18287023	44738497	1000	4177											
RALGAPA2	57186	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	20475759	20475759	+	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	caacaatgcaatgaaaacgtAcctcaggtttcttcgttatc	13	12	6	10	2	2	1	1	1	1	0	4	1	2	1	1	1	4	4	1	1	7	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:20475759A>G	ENST00000202677.7	-	36	5375		c.e36+1			NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATGAAAACGTACCTCAGGTTT	0.378																																						.											0													135	130	131					20																	20475759		1904	4129	6033	SO:0001630	splice_region_variant	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5367+1T>C	20.37:g.20475759A>G			Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Splice_Site	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333165	0.60853	.	.	ENSG00000188559	ENST00000417022;ENST00000430436;ENST00000202677;ENST00000427175	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7051	0.77573	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RALGAPA2	20423759	1.000000	0.71417	0.985000	0.45067	0.556000	0.35491	9.273000	0.95719	2.106000	0.64143	0.460000	0.39030	.		0.378	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	Intron	G	20475759	A	G	20475759	5	3	43	1	0	0	0	0	0	0	1	0	13014	405	14	2	268	2	RALGAPA2	20	20475759	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2188736	20475759	42549761	1001	4178											
NKX2-4	644524	hgsc.bcm.edu;ucsc.edu	37	chr20	21376975	21376975	+	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	tcgcgctcgggcgccgacagGtacttctgctgcttgaagcg	5	9	14	13	6	1	1	0	1	1	0	3	2	1	1	1	2	4	4	1	2	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:21376975G>A	ENST00000351817.4	-	2	1267	c.639C>T	c.(637-639)taC>taT	p.Y213Y	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	213					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						GCGCCGACAGGTACTTCTGCT	0.667																																						.											0													30	31	31					20																	21376975		2202	4299	6501	SO:0001819	synonymous_variant	644524				CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"Homeoboxes / ANTP class : NKL subclass"	7837	protein-coding gene	gene with protein product		607808	"NK-2 (Drosophila) homolog D", "NK2 transcription factor related, locus 4 (Drosophila)"	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.639C>T	20.37:g.21376975G>A			Q5VZV8	Silent	SNP	ENST00000351817.4	37	CCDS42855.1																																																																																				0.667	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			A	21376975	G	A	21376975	2	1	43	1	0	0	0	0	0	0	0	1	10452	1256	44	3		3	NKX2-4	20	21376975	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	901216	21376975	41648545	1002	4179											
CST5	1473	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	23858242	23858242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattgaagtagtagttcAccccacccacgatctacacg	12	9	6	14	2	3	1	2	1	1	0	3	2	3	1	3	0	1	3	3	0	4	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:23858242A>G	ENST00000304710.4	-	2	318	c.245T>C	c.(244-246)gTg>gCg	p.V82A		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	82					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GTAGTAGTTCACCCCACCCAC	0.532																																						.											0													199	147	165					20																	23858242		2203	4300	6503	SO:0001583	missense	1473				CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.245T>C	20.37:g.23858242A>G	ENSP00000307132:p.Val82Ala		Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758309	0.31137	.	.	ENSG00000170367	ENST00000304710	T	0.27402	1.67	2.56	1.43	0.22495	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	1.558470	0.04237	U	0.336299	T	0.50377	0.1612	M	0.77103	2.36	0.09310	N	1	P	0.52692	0.955	P	0.61533	0.89	T	0.12785	-1.0534	10	0.30854	T	0.27	.	4.3883	0.11328	0.8291:0.0:0.1709:0.0	.	82	P28325	CYTD_HUMAN	A	82	ENSP00000307132:V82A	ENSP00000307132:V82A	V	-	2	0	CST5	23806242	0.030000	0.19436	0.050000	0.19076	0.025000	0.11179	0.314000	0.19432	0.230000	0.21059	-0.464000	0.05259	GTG		0.532	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		G	23858242	A	G	23858242	3	3	43	1	0	0	0	0	1	0	0	0	3975	159	6	2	191	2	CST5	20	23858242	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2481267	23858242	39167278	1003	4180											
TMEM90B	79953	broad.mit.edu;mdanderson.org	37	chr20	24524119	24524119	+	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	caaagacagcctcgagtaccCggatgggaagttcattgacc	12	7	11	11	2	1	2	1	1	0	1	2	5	1	4	3	2	2	2	3	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:24524119C>T	ENST00000376862.3	+	2	1019	c.386C>T	c.(385-387)cCg>cTg	p.P129L		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	129					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.P129L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCGAGTACCCGGATGGGAAG	0.607																																						.											1	Substitution - Missense(1)	large_intestine(1)											81	84	83					20																	24524119		2203	4300	6503	SO:0001583	missense	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.386C>T	20.37:g.24524119C>T	ENSP00000366058:p.Pro129Leu		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330865	0.60853	.	.	ENSG00000101463	ENST00000376862	D	0.90444	-2.67	5.47	5.47	0.80525	.	0.138225	0.51477	D	0.000099	D	0.86485	0.5944	M	0.62723	1.935	0.80722	D	1	D	0.54772	0.968	B	0.28385	0.089	D	0.89436	0.3720	10	0.87932	D	0	-33.8773	16.8193	0.85741	0.0:1.0:0.0:0.0	.	129	Q9H7V2	SYNG1_HUMAN	L	129	ENSP00000366058:P129L	ENSP00000366058:P129L	P	+	2	0	SYNDIG1	24472119	0.989000	0.36119	0.975000	0.42487	0.689000	0.40095	7.082000	0.76851	2.582000	0.87167	0.561000	0.74099	CCG		0.607	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		T	24524119	C	T	24524119	3	4	43	1	0	0	0	0	1	0	0	0	16216	652	23	1	388	1	TMEM90B	20	24524119	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	665877	24524119	38501401	1004	4181											
COX4I2	84701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	30231238	30231238	+	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	cagttcaatgagacctttgcGgagatgaaccgtcgctccaa	11	9	10	11	3	1	3	1	2	0	2	3	5	2	3	3	1	2	2	3	1	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:30231238G>A	ENST00000376075.3	+	4	354	c.279G>A	c.(277-279)gcG>gcA	p.A93A	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	93					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AGACCTTTGCGGAGATGAACC	0.567																																						.											0													187	151	163					20																	30231238		2203	4300	6503	SO:0001819	synonymous_variant	84701			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.279G>A	20.37:g.30231238G>A			Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	CCDS13187.1																																																																																				0.567	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		A	30231238	G	A	30231238	2	1	43	1	0	0	0	0	0	0	0	1	3770	1103	39	1		1	COX4I2	20	30231238	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5707119	30231238	32794282	1005	4182											
CEP250	11190	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	34050290	34050290	+	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	actacagcagcagatggcagAgaatcaggcagcctcctggc	12	5	12	12	0	1	2	1	0	0	2	2	3	2	2	2	3	4	4	2	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:34050290A>C	ENST00000397527.1	+	4	818	c.98A>C	c.(97-99)gAg>gCg	p.E33A	CEP250_ENST00000342580.4_Missense_Mutation_p.E33A|CEP250_ENST00000397524.1_Missense_Mutation_p.E33A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	33					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGATGGCAGAGAATCAGGCA	0.582																																						.											0													42	38	40					20																	34050290		2203	4299	6502	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.98A>C	20.37:g.34050290A>C	ENSP00000380661:p.Glu33Ala		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859359	0.71834	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.55760	2.43;2.37;0.5;1.4	5.12	5.12	0.69794	.	0.228497	0.30809	N	0.008828	T	0.51975	0.1706	M	0.71581	2.175	0.45883	D	0.998736	P	0.46142	0.873	B	0.39660	0.306	T	0.61128	-0.7125	10	0.72032	D	0.01	.	12.5217	0.56062	1.0:0.0:0.0:0.0	.	33	Q9BV73	CP250_HUMAN	A	33	ENSP00000380661:E33A;ENSP00000341541:E33A;ENSP00000380658:E33A;ENSP00000413827:E33A	ENSP00000341541:E33A	E	+	2	0	CEP250	33513704	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	6.683000	0.74533	2.132000	0.65825	0.528000	0.53228	GAG		0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		C	34050290	A	C	34050290	3	2	43	1	0	0	0	0	1	0	0	0	3252	304	11	5	100	5	CEP250	20	34050290	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3819052	34050290	28975230	1006	4183											
SPAG4	6676	ucsc.edu	37	chr20	34207645	34207645	+	Missense_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	acaccggaggagccaacagcGccccccgcgatttcgcggtc	8	4	12	17	6	0	0	0	0	0	0	2	3	0	2	5	3	3	0	5	3	1	1	rs376632243|rs532323841	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:34207645G>A	ENST00000374273.3	+	10	1166	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	352	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGCCAACAGCGCCCCCCGCGA	0.627																																						.											0													37	39	38					20																	34207645		2203	4300	6503	SO:0001583	missense	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1054G>A	20.37:g.34207645G>A	ENSP00000363391:p.Ala352Thr		O43648	Missense_Mutation	SNP	ENST00000374273.3	37	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411031	0.62399	.	.	ENSG00000061656	ENST00000374273;ENST00000430878	T;T	0.52754	0.65;0.65	4.66	3.72	0.42706	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.88241	2.94	0.46396	D	0.999025	P	0.52692	0.955	B	0.38327	0.271	T	0.62412	-0.6860	10	0.87932	D	0	-0.0314	10.1876	0.43006	0.0:0.0:0.8012:0.1988	.	352	Q9NPE6	SPAG4_HUMAN	T	352;47	ENSP00000363391:A352T;ENSP00000399231:A47T	ENSP00000363391:A352T	A	+	1	0	SPAG4	33671059	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	3.537000	0.53590	1.186000	0.42985	-0.218000	0.12543	GCC		0.627	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		A	34207645	G	A	34207645	3	1	43	1	0	0	0	0	1	0	0	0	14980	1087	38	1	1092	1	SPAG4	20	34207645	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	157355	34207645	28817875	1007	4184											
C20orf117	140710	broad.mit.edu;mdanderson.org	37	chr20	35467800	35467800	+	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	acgtcctcctccatatagacGtcccgcatctccagcatctc	8	10	5	18	3	2	1	0	0	2	1	8	1	6	1	5	0	1	2	5	0	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:35467800G>A	ENST00000357779.3	-	2	344	c.18C>T	c.(16-18)gaC>gaT	p.D6D	SOGA1_ENST00000279034.6_Silent_p.D6D|SOGA1_ENST00000237536.4_Silent_p.D244D			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	6					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						CCATATAGACGTCCCGCATCT	0.627																																						.											0													40	44	42					20																	35467800		2113	4241	6354	SO:0001819	synonymous_variant	140710			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.18C>T	20.37:g.35467800G>A			A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																					0.627	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		A	35467800	G	A	35467800	2	1	43	1	0	0	0	0	0	0	0	1	2083	1136	40	1		1	C20orf117	20	35467800	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1260155	35467800	27557720	1008	4185											
SLC32A1	140679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	37353701	37353701	+	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	gtggcgaattcgggggccacGacaagcccaaaatcacggcg	11	4	14	12	5	1	0	1	0	0	0	2	2	1	0	2	4	1	0	2	4	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:37353701G>A	ENST00000217420.1	+	1	597	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	112					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGGGGGCCACGACAAGCCCAA	0.652																																						.											0													43	47	45					20																	37353701		2151	4231	6382	SO:0001583	missense	140679			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.334G>A	20.37:g.37353701G>A	ENSP00000217420:p.Asp112Asn		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979286	0.74360	.	.	ENSG00000101438	ENST00000217420	T	0.06933	3.24	5.09	5.09	0.68999	.	0.235220	0.42420	D	0.000720	T	0.04182	0.0116	N	0.08118	0	0.49051	D	0.999741	P	0.34724	0.465	B	0.23716	0.048	T	0.54423	-0.8296	10	0.17369	T	0.5	-37.7686	15.968	0.79987	0.0:0.0:1.0:0.0	.	112	Q9H598	VIAAT_HUMAN	N	112	ENSP00000217420:D112N	ENSP00000217420:D112N	D	+	1	0	SLC32A1	36787115	1.000000	0.71417	0.990000	0.47175	0.852000	0.48524	9.583000	0.98217	2.365000	0.80145	0.561000	0.74099	GAC		0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		A	37353701	G	A	37353701	3	1	43	1	0	0	0	0	1	0	0	0	14565	1058	37	1	336	1	SLC32A1	20	37353701	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1885901	37353701	25671819	1009	4186											
PPP1R16B	26051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	37529279	37529279	+	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	acatgccatatgacctctgcGaggatgaacccaccctggat	11	8	9	13	1	1	2	0	2	1	0	1	5	1	4	4	2	3	0	4	2	2	1	rs139690056	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:37529279G>A	ENST00000299824.1	+	5	712	c.523G>A	c.(523-525)Gag>Aag	p.E175K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E175K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	175					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGACCTCTGCGAGGATGAACC	0.572																																						.											0								G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	159	104	123		523,523	5	1	20	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PPP1R16B	NM_001172735.1,NM_015568.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	175/526,175/568	37529279	1,13005	2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.523G>A	20.37:g.37529279G>A	ENSP00000299824:p.Glu175Lys		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	36	5.767257	0.96914	0.0	1.16E-4	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.52754	0.65;0.65	4.98	4.98	0.66077	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.957;0.98	T	0.65829	-0.6073	10	0.42905	T	0.14	.	18.8173	0.92081	0.0:0.0:1.0:0.0	.	175;175	E9PFS8;Q96T49	.;PP16B_HUMAN	K	175	ENSP00000299824:E175K;ENSP00000362428:E175K	ENSP00000299824:E175K	E	+	1	0	PPP1R16B	36962693	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.657000	0.98554	2.746000	0.94184	0.655000	0.94253	GAG		0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		A	37529279	G	A	37529279	3	1	43	1	0	0	0	0	1	0	0	0	12366	1059	37	1	537	1	PPP1R16B	20	37529279	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	175578	37529279	25496241	1010	4187											
PLCG1	5335	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	39801085	39801085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcacagaacgtgcttgctAccgggacatgtcatccttcc	8	10	10	13	2	1	1	1	0	0	1	3	2	3	2	3	2	4	3	3	2	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:39801085A>G	ENST00000373271.1	+	26	3335	c.2930A>G	c.(2929-2931)tAc>tGc	p.Y977C	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y977C|PLCG1_ENST00000373272.2_Missense_Mutation_p.Y977C|PLCG1_ENST00000608689.1_3'UTR	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	977	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGCTTGCTACCGGGACATG	0.517																																						.											0													54	49	51					20																	39801085		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2930A>G	20.37:g.39801085A>G	ENSP00000362368:p.Tyr977Cys		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698732	0.48307	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.53640	0.61;0.61;0.61	5.67	5.67	0.87782	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.116625	0.64402	D	0.000015	T	0.55737	0.1939	M	0.64260	1.97	0.54753	D	0.999989	B;P;B	0.35348	0.09;0.496;0.11	B;B;B	0.43728	0.067;0.429;0.111	T	0.58165	-0.7684	10	0.56958	D	0.05	.	15.9087	0.79450	1.0:0.0:0.0:0.0	.	977;977;977	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	C	977	ENSP00000244007:Y977C;ENSP00000362368:Y977C;ENSP00000362369:Y977C	ENSP00000244007:Y977C	Y	+	2	0	PLCG1	39234499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.230000	0.51286	2.165000	0.68154	0.533000	0.62120	TAC		0.517	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		G	39801085	A	G	39801085	3	3	43	1	0	0	0	0	1	0	0	0	12035	391	14	2	3032	2	PLCG1	20	39801085	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	2271806	39801085	23224435	1011	4188											
LPIN3	64900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	39980542	39980542	+	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	cctggactctgagaatgcagCgctttacttcccccaaaggt	9	10	9	13	1	1	1	0	1	1	1	2	3	2	2	3	2	3	2	3	2	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:39980542C>T	ENST00000373257.3	+	8	1275	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	395					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GAGAATGCAGCGCTTTACTTC	0.597																																						.											0													106	99	101					20																	39980542		2203	4300	6503	SO:0001583	missense	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1184C>T	20.37:g.39980542C>T	ENSP00000362354:p.Ala395Val		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268312	0.80469	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.86097	-2.07	5.32	3.4	0.38934	.	0.129916	0.50627	N	0.000109	D	0.91459	0.7304	M	0.83384	2.64	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.80764	0.923;0.994	D	0.90563	0.4517	9	.	.	.	-19.3926	10.7572	0.46243	0.0:0.844:0.0:0.156	.	396;395	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	V	395;59	ENSP00000362354:A395V	.	A	+	2	0	LPIN3	39413956	0.999000	0.42202	0.991000	0.47740	0.889000	0.51656	3.976000	0.56867	0.629000	0.30376	-0.222000	0.12452	GCG		0.597	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		T	39980542	C	T	39980542	3	4	43	1	0	0	0	0	1	0	0	0	8920	768	27	1	1210	1	LPIN3	20	39980542	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	179457	39980542	23044978	1012	4189											
MMP9	4318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	44641958	44641958	+	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	ccgcagcccacggctcccccGacggtctgccccaccggacc	5	3	10	23	5	1	0	0	0	1	0	2	2	2	1	8	3	2	2	8	3	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:44641958G>A	ENST00000372330.3	+	9	1414	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	465					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CGGCTCCCCCGACGGTCTGCC	0.687											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													45	60	55					20																	44641958		2185	4271	6456	SO:0001819	synonymous_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1395G>A	20.37:g.44641958G>A		925	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	CCDS13390.1																																																																																				0.687	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			A	44641958	G	A	44641958	2	1	43	1	0	0	0	0	0	0	0	1	9669	1045	37	1		1	MMP9	20	44641958	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4661416	44641958	18383562	1013	4190											
SLC2A10	81031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	45355544	45355544	+	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	agatctaccctgtggagataCgaggaagagccttcgccttc	10	9	11	11	2	1	3	0	0	1	3	3	6	1	4	3	2	3	0	3	2	3	4	rs370547023		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:45355544C>T	ENST00000359271.2	+	3	1580	c.1330C>T	c.(1330-1332)Cga>Tga	p.R444*		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	444					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)				TGTGGAGATACGAGGAAGAGC	0.592																																						.											0			GRCh37	CM070263	SLC2A10	M		C	stop/ARG	0,4406		0,0,2203	154	139	144		1330	2.6	1	20		144	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SLC2A10	NM_030777.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		444/542	45355544	1,13005	2203	4300	6503	SO:0001587	stop_gained	81031			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.1330C>T	20.37:g.45355544C>T	ENSP00000352216:p.Arg444*		A8K4J6|Q3MIX5|Q9H4I6	Nonsense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906790	0.97093	0.0	1.16E-4	ENSG00000197496	ENST00000359271	.	.	.	5.8	2.61	0.31194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5252	15.405	0.74871	0.5717:0.4283:0.0:0.0	.	.	.	.	X	444	.	ENSP00000352216:R444X	R	+	1	2	SLC2A10	44788951	0.989000	0.36119	1.000000	0.80357	0.179000	0.23085	1.977000	0.40589	0.768000	0.33290	0.467000	0.42956	CGA		0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			T	45355544	C	T	45355544	4	4	43	1	0	0	0	0	0	1	0	0	14539	528	19	1	1340	1	SLC2A10	20	45355544	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	713586	45355544	17669976	1014	4191											
SULF2	55959	broad.mit.edu	37	chr20	46365622	46365622	+	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	atgggtgtggtcacgaaggcGttgatgaagtgcgccccgcc	7	8	16	10	4	1	2	1	2	0	0	1	3	1	2	3	3	1	1	3	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:46365622G>A	ENST00000359930.4	-	3	1091	c.240C>T	c.(238-240)aaC>aaT	p.N80N	SULF2_ENST00000361612.4_Silent_p.N80N|SULF2_ENST00000467815.1_Silent_p.N80N|SULF2_ENST00000484875.1_Silent_p.N80N|SULF2_ENST00000478766.1_5'UTR	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	80					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCACGAAGGCGTTGATGAAGT	0.582																																						.											0													235	181	199					20																	46365622		2203	4300	6503	SO:0001819	synonymous_variant	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.240C>T	20.37:g.46365622G>A			E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	CCDS13408.1																																																																																				0.582	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46365622	G	A	46365622	2	1	43	1	0	0	0	0	0	0	0	1	15370	1136	40	1		1	SULF2	20	46365622	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1010078	46365622	16659898	1015	4192											
KCNB1	3745	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	48098552	48098552	+	Missense_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	ctcctcgccttcccgctcccGtagggtctcggcctcacgct	2	10	9	20	5	2	0	1	0	1	0	7	0	5	0	5	2	0	3	5	2	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48098552G>A	ENST00000371741.4	-	1	632	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	156					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCCCGCTCCCGTAGGGTCTCG	0.582																																						.											0													170	138	148					20																	48098552		2203	4300	6503	SO:0001583	missense	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.466C>T	20.37:g.48098552G>A	ENSP00000360806:p.Arg156Trp		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177032	0.38413	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96554	-4.05	5.15	3.17	0.36434	.	0.132166	0.46758	D	0.000280	D	0.97845	0.9292	M	0.85542	2.76	0.32967	D	0.521814	D	0.89917	1.0	D	0.67548	0.952	D	0.99908	1.1188	10	0.87932	D	0	.	13.7034	0.62622	0.0:0.0:0.6011:0.3989	.	156	Q14721	KCNB1_HUMAN	W	156;111	ENSP00000360806:R156W	ENSP00000360806:R156W	R	-	1	2	KCNB1	47531959	0.998000	0.40836	0.009000	0.14445	0.619000	0.37552	1.309000	0.33539	0.726000	0.32339	-0.311000	0.09066	CGG		0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		A	48098552	G	A	48098552	3	1	43	1	0	0	0	0	1	0	0	0	8012	1144	40	1	2118	1	KCNB1	20	48098552	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1732930	48098552	14926968	1016	4193											
SPATA2	9825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	48524979	48524979	+	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	atggaactgcacgtacttccGaaataagtcatccttgaatt	13	12	7	9	2	1	1	1	1	0	0	3	3	3	2	2	1	3	2	2	1	5	5	rs77667957		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48524979G>A	ENST00000422556.1	-	2	398	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.R17W	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	17					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ACGTACTTCCGAAATAAGTCA	0.552																																						.											0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	90	84	86		49,49	3.8	1	20	dbSNP_131	86	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SPATA2	NM_001135773.1,NM_006038.3	101,101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	17/521,17/521	48524979	3,13003	2203	4300	6503	SO:0001583	missense	9825			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.49C>T	20.37:g.48524979G>A	ENSP00000416799:p.Arg17Trp		E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223817	0.79576	0.0	3.49E-4	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.57107	0.42;0.42	4.79	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69487	-0.5132	10	0.87932	D	0	-23.3774	10.756	0.46237	0.0:0.0:0.6354:0.3646	.	17	Q9UM82	SPAT2_HUMAN	W	17	ENSP00000289431:R17W;ENSP00000416799:R17W	ENSP00000289431:R17W	R	-	1	2	SPATA2	47958386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.214000	0.65236	2.661000	0.90470	0.655000	0.94253	CGG		0.552	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		A	48524979	G	A	48524979	3	1	43	1	0	0	0	0	1	0	0	0	15004	1057	37	1	1521	1	SPATA2	20	48524979	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	426427	48524979	14500541	1017	4194											
TMEM189	387522	broad.mit.edu;mdanderson.org	37	chr20	48744630	48744630	+	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	cagcgtggcagcccaaagtaCgtgtgcgaccacttgtggat	9	8	13	11	3	0	0	0	0	0	0	0	2	0	1	2	2	4	2	2	2	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48744630C>T	ENST00000341698.2	-	5	572	c.573G>A	c.(571-573)acG>acA	p.T191T	TMEM189_ENST00000371656.2_Silent_p.T116T|TMEM189_ENST00000371652.4_Silent_p.T191T|TMEM189_ENST00000371650.5_Silent_p.T188T|TMEM189_ENST00000557021.1_Silent_p.T191T	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GCCCAAAGTACGTGTGCGACC	0.587																																						.											0													219	146	171					20																	48744630		2203	4300	6503	SO:0001819	synonymous_variant	387521			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.573G>A	20.37:g.48744630C>T				Silent	SNP	ENST00000341698.2	37	CCDS13424.1																																																																																				0.587	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			T	48744630	C	T	48744630	2	4	43	1	0	0	0	0	0	0	0	1	16108	523	19	1		1	TMEM189	20	48744630	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	219651	48744630	14280890	1018	4195											
FAM65C	140876	broad.mit.edu	37	chr20	49218734	49218734	+	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	ctcgagggccacgccaggccCgtcctctctgtccccggttg	3	8	12	18	4	1	0	0	0	1	0	5	1	3	0	6	3	0	1	6	3	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:49218734C>T	ENST00000327979.2	-	13	1933	c.1522G>A	c.(1522-1524)Ggg>Agg	p.G508R	FAM65C_ENST00000045083.2_Missense_Mutation_p.G508R|FAM65C_ENST00000535356.1_Missense_Mutation_p.G512R			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	508										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						ACGCCAGGCCCGTCCTCTCTG	0.697																																						.											0													28	28	28					20																	49218734		2203	4300	6503	SO:0001583	missense	140876			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.1522G>A	20.37:g.49218734C>T	ENSP00000332663:p.Gly508Arg		Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559252	0.27827	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.16597	2.33;2.33;2.33	4.63	-2.66	0.06077	.	0.766780	0.12147	N	0.495269	T	0.07773	0.0195	N	0.21583	0.68	0.09310	N	1	B;B	0.18968	0.013;0.032	B;B	0.14578	0.011;0.006	T	0.33599	-0.9862	10	0.25751	T	0.34	-9.5507	1.9319	0.03328	0.1256:0.437:0.1229:0.3144	.	512;508	F5H0X2;Q96MK2	.;FA65C_HUMAN	R	508;508;512	ENSP00000332663:G508R;ENSP00000045083:G508R;ENSP00000439802:G512R	ENSP00000045083:G508R	G	-	1	0	FAM65C	48652141	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.606000	0.05654	-0.521000	0.06426	-1.036000	0.02392	GGG		0.697	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			T	49218734	C	T	49218734	3	4	43	1	0	0	0	0	1	0	0	0	5601	652	23	1	1358	1	FAM65C	20	49218734	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	474104	49218734	13806786	1019	4196											
BCAS1	8537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	52601913	52601913	+	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	gcaggttcaggggttgtcacGgactgtgtgtgccccgatgg	5	10	17	9	2	2	0	2	0	0	0	2	2	2	1	2	5	1	3	2	5	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:52601913G>A	ENST00000395961.3	-	7	1219	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	BCAS1_ENST00000371440.3_Silent_p.S396S|BCAS1_ENST00000434986.2_Silent_p.S109S|BCAS1_ENST00000371435.2_Silent_p.S351S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	351						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGTTGTCACGGACTGTGTGT	0.517																																						.											0													261	222	235					20																	52601913		2203	4300	6503	SO:0001819	synonymous_variant	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1053C>T	20.37:g.52601913G>A			A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	4.443	0.082021	0.08533	.	.	ENSG00000064787	ENST00000422805	.	.	.	4.44	-6.42	0.01932	.	.	.	.	.	T	0.16385	0.0394	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29941	-0.9995	4	.	.	.	-2.4618	1.8346	0.03137	0.1966:0.1373:0.3962:0.2698	.	.	.	.	L	70	.	.	P	-	2	0	BCAS1	52035320	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.874000	0.00718	-0.508000	0.06540	-0.302000	0.09304	CCG		0.517	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		A	52601913	G	A	52601913	2	1	43	1	0	0	0	0	0	0	0	1	1350	1103	39	1		1	BCAS1	20	52601913	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3383179	52601913	10423607	1020	4197											
BCAS1	8537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	52645320	52645320	+	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	tgatccaagggatgaatctgCggcttggtctccggtacgtc	7	11	13	10	3	2	2	0	2	2	0	5	3	3	3	2	4	2	2	2	4	3	2	rs201371925		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:52645320C>T	ENST00000395961.3	-	4	500	c.334G>A	c.(334-336)Gca>Aca	p.A112T	BCAS1_ENST00000371440.3_Missense_Mutation_p.A112T|BCAS1_ENST00000411563.1_Missense_Mutation_p.A15T|BCAS1_ENST00000371435.2_Missense_Mutation_p.A112T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	112						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GATGAATCTGCGGCTTGGTCT	0.532																																						.											0													71	68	69					20																	52645320		2203	4300	6503	SO:0001583	missense	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.334G>A	20.37:g.52645320C>T	ENSP00000379290:p.Ala112Thr		A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	1.524	-0.546098	0.04024	.	.	ENSG00000064787	ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.11	-3.93	0.04143	.	0.785958	0.11479	N	0.559912	T	0.00784	0.0026	N	0.00142	-2.005	0.09310	N	0.999999	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.38520	-0.9657	10	0.02654	T	1	-0.4969	4.5089	0.11901	0.5014:0.2285:0.0:0.2701	.	15;112;112;112;112;112	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	T	112;112;112;15	ENSP00000360495:A112T;ENSP00000379290:A112T;ENSP00000360490:A112T;ENSP00000397442:A15T	ENSP00000360490:A112T	A	-	1	0	BCAS1	52078727	0.082000	0.21442	0.548000	0.28192	0.660000	0.38997	-0.061000	0.11693	-1.046000	0.03246	-0.414000	0.06135	GCA		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		T	52645320	C	T	52645320	3	4	43	1	0	0	0	0	1	0	0	0	1350	768	27	1	1456	1	BCAS1	20	52645320	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	43407	52645320	10380200	1021	4198											
C20orf107	388799	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr20	55111249	55111249	+	Nonsense_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	agcagagtcctcctggccttCgaggcttcccatttcgcact	6	11	9	15	2	0	1	0	0	0	1	5	2	3	1	4	2	1	3	4	2	0	3	rs200395408	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:55111249C>T	ENST00000371325.1	+	2	367	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	91						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCTGGCCTTCGAGGCTTCCC	0.408													C|||	2	0.000399361	0.0015	0	5008	,	,		21293	0		0	False		,,,				2504	0					.											0													89	91	90					20																	55111249		2203	4300	6503	SO:0001587	stop_gained	388799			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.271C>T	20.37:g.55111249C>T	ENSP00000360376:p.Arg91*		Q3KRB5	Nonsense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.90	3.913153	0.72983	.	.	ENSG00000213714	ENST00000371325	.	.	.	2.71	2.71	0.32032	.	0.451422	0.16428	U	0.214854	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8967	9.076	0.36522	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000360376:R91X	R	+	1	2	C20orf107	54544656	0.280000	0.24249	0.316000	0.25252	0.524000	0.34500	0.976000	0.29462	1.829000	0.53265	0.491000	0.48974	CGA		0.408	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			T	55111249	C	T	55111249	4	4	43	1	0	0	0	0	0	1	0	0	2077	876	31	1	277	1	C20orf107	20	55111249	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2465929	55111249	7914271	1022	4199											
BMP7	655	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	55803427	55803427	+	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	gatcttggaaagatcaaaccGgaactctcgatggtggtagc	12	9	12	8	2	3	1	1	0	2	1	4	5	3	3	1	4	3	1	1	4	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:55803427G>A	ENST00000395863.3	-	2	974	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	BMP7_ENST00000450594.2_Missense_Mutation_p.R157W|BMP7_ENST00000395864.3_Missense_Mutation_p.R157W	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	157					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)			AGATCAAACCGGAACTCTCGA	0.512																																						.											0													168	165	166					20																	55803427		2203	4300	6503	SO:0001583	missense	655				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.469C>T	20.37:g.55803427G>A	ENSP00000379204:p.Arg157Trp		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748028|2.748028	0.49257|0.49257	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000395864;ENST00000450594	.|T;T;T	.|0.64438	.|-0.1;-0.1;-0.1	5.33|5.33	4.32|4.32	0.51571|0.51571	.|Transforming growth factor-beta, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72236|0.72236	0.3435|0.3435	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	.|B;B;D	.|0.89917	.|0.066;0.02;1.0	.|B;B;D	.|0.85130	.|0.039;0.013;0.997	T|T	0.69483|0.69483	-0.5133|-0.5133	5|10	.|0.34782	.|T	.|0.22	.|.	15.5359|15.5359	0.76001|0.76001	0.0:0.0:0.8035:0.1965|0.0:0.0:0.8035:0.1965	.|.	.|157;157;157	.|B1AKZ9;P18075;B1AL00	.|.;BMP7_HUMAN;.	L|W	42|157	.|ENSP00000379204:R157W;ENSP00000379205:R157W;ENSP00000398687:R157W	.|ENSP00000379204:R157W	P|R	-|-	2|1	0|2	BMP7|BMP7	55236834|55236834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	3.728000|3.728000	0.54991|0.54991	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.512	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			A	55803427	G	A	55803427	3	1	43	1	0	0	0	0	1	0	0	0	1465	1115	39	1	850	1	BMP7	20	55803427	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	692178	55803427	7222093	1023	4200											
ZBP1	81030	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr20	56185305	56185305	+	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	ttgctgttgccgatggtggcGtcctcgagaaagcacgattt	7	12	13	9	4	0	1	0	0	0	1	2	4	1	1	2	2	3	3	2	2	1	3	rs186925447		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:56185305G>A	ENST00000371173.3	-	7	1170	c.993C>T	c.(991-993)gaC>gaT	p.D331D	ZBP1_ENST00000395822.3_Silent_p.D256D|ZBP1_ENST00000343535.4_Silent_p.D331D|ZBP1_ENST00000340462.4_Silent_p.D308D	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	331					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.D331D(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CGATGGTGGCGTCCTCGAGAA	0.597													G|||	1	0.000199681	0	0	5008	,	,		18253	0.001		0	False		,,,				2504	0					.											1	Substitution - coding silent(1)	large_intestine(1)						G	,,	1,4405	2.1+/-5.4	0,1,2202	209	213	211		990,768,993	-6.6	0	20		211	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBP1	NM_001160417.1,NM_001160418.1,NM_030776.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	330/429,256/355,331/430	56185305	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.993C>T	20.37:g.56185305G>A			A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	CCDS13461.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.819	-0.245245	0.05906	2.27E-4	0.0	ENSG00000124256	ENST00000453793	.	.	.	4.03	-6.57	0.01842	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27400	-1.0075	4	.	.	.	-18.5432	6.8038	0.23766	0.4777:0.2171:0.3052:0.0	.	.	.	.	M	6	.	.	T	-	2	0	ZBP1	55618711	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.448000	0.02394	-1.778000	0.01282	-1.564000	0.00881	ACG		0.597	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		A	56185305	G	A	56185305	2	1	43	1	0	0	0	0	0	0	0	1	17518	1136	40	1		1	ZBP1	20	56185305	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	381878	56185305	6840215	1024	4201											
PMEPA1	56937	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr20	56227600	56227600	+	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	gtggaagcgctcccgctgggCgaagggcggcacggccaggc	6	3	19	13	5	0	0	0	0	0	0	1	2	1	1	2	6	1	3	2	6	2	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:56227600C>T	ENST00000341744.3	-	4	692	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	PMEPA1_ENST00000395814.1_Missense_Mutation_p.A75T|PMEPA1_ENST00000347215.4_Missense_Mutation_p.A90T|PMEPA1_ENST00000265626.4_Missense_Mutation_p.A75T|PMEPA1_ENST00000395816.3_Missense_Mutation_p.A75T	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	125					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						TCCCGCTGGGCGAAGGGCGGC	0.706																																						.											0													20	21	21					20																	56227600		2198	4286	6484	SO:0001583	missense	56937			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.373G>A	20.37:g.56227600C>T	ENSP00000345826:p.Ala125Thr		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524389	0.27299	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.45668	0.89;0.9;0.92;0.92;0.92;0.9;0.9	5.32	-5.54	0.02544	.	0.645184	0.15683	N	0.249802	T	0.14743	0.0356	N	0.11255	0.115	0.22835	N	0.998677	B;B	0.13594	0.003;0.008	B;B	0.06405	0.001;0.002	T	0.06552	-1.0820	10	0.34782	T	0.22	-17.5275	1.6546	0.02779	0.1716:0.1762:0.1887:0.4634	.	90;125	Q5JY37;Q969W9	.;PMEPA_HUMAN	T	125;90;75;75;75;97;182	ENSP00000345826:A125T;ENSP00000344014:A90T;ENSP00000379161:A75T;ENSP00000265626:A75T;ENSP00000379159:A75T;ENSP00000401506:A97T;ENSP00000379164:A182T	ENSP00000265626:A75T	A	-	1	0	PMEPA1	55661006	0.000000	0.05858	0.918000	0.36340	0.589000	0.36550	-1.384000	0.02542	-0.775000	0.04584	-0.216000	0.12614	GCC		0.706	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		T	56227600	C	T	56227600	3	4	43	1	0	0	0	0	1	0	0	0	12132	768	27	1	494	1	PMEPA1	20	56227600	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	42295	56227600	6797920	1025	4202											
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	57769704	57769704	+	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	tctgtgtacttggcggtgcaCtttcctggtagcagcctccg	4	13	12	12	2	1	0	0	0	1	0	3	0	3	0	3	3	4	4	3	3	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:57769704C>T	ENST00000371030.2	+	1	3630	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1210							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)					TGGCGGTGCACTTTCCTGGTA	0.642																																						.											0													31	36	34					20																	57769704		2094	4220	6314	SO:0001819	synonymous_variant	128611			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.3630C>T	20.37:g.57769704C>T			Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57769704	C	T	57769704	2	4	43	1	0	0	0	0	0	0	0	1	18182	564	20	4		4	ZNF831	20	57769704	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1542104	57769704	5255816	1026	4203											
EDN3	1908	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr20	57899467	57899467	+	Missense_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	ccggcagtggactcgccctcGctccatctacctgcccccgc	4	7	9	21	4	1	0	0	0	1	0	4	1	2	1	6	2	2	2	6	2	1	1	rs11570351	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:57899467G>A	ENST00000337938.2	+	5	1056	c.670G>A	c.(670-672)Gct>Act	p.A224T	EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.A224T|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Missense_Mutation_p.A210T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	224			A -> T (in HSCR4; dbSNP:rs11570351). {ECO:0000269|PubMed:9359047}.		blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					ACTCGCCCTCGCTCCATCTAC	0.592													G|||	7	0.00139776	0.0053	0	5008	,	,		15172	0		0	False		,,,				2504	0					.											0			GRCh37	CM972864	EDN3	M	rs11570351	G	THR/ALA,,THR/ALA,THR/ALA	21,4385	28.1+/-56.4	0,21,2182	93	94	94	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	670,,628,670	0.2	0	20	dbSNP_120	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense,utr-3,missense,missense	EDN3	NM_000114.2,NM_207032.1,NM_207033.1,NM_207034.1	58,,58,58	0,22,6481	AA,AG,GG		0.0116,0.4766,0.1692	benign,,benign,benign	224/239,,210/225,224/239	57899467	22,12984	2203	4300	6503	SO:0001583	missense	1908			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.670G>A	20.37:g.57899467G>A	ENSP00000337128:p.Ala224Thr		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	CCDS13477.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.61	1.399258	0.25291	0.004766	1.16E-4	ENSG00000124205	ENST00000337938;ENST00000371028;ENST00000395654	D;D;D	0.96232	-2.15;-2.15;-3.95	4.51	0.201	0.15186	.	.	.	.	.	D	0.86439	0.5933	N	0.22421	0.69	0.09310	N	1	B;B	0.32350	0.366;0.251	B;B	0.23419	0.046;0.021	T	0.80797	-0.1222	9	0.62326	D	0.03	.	4.04	0.09746	0.2984:0.1754:0.5262:0.0	rs11570351	210;224	P14138-2;P14138	.;EDN3_HUMAN	T	224;224;210	ENSP00000337128:A224T;ENSP00000360067:A224T;ENSP00000379015:A210T	ENSP00000337128:A224T	A	+	1	0	EDN3	57332862	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.158000	0.10070	-0.021000	0.14009	-0.251000	0.11542	GCT		0.592	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		A	57899467	G	A	57899467	3	1	43	1	0	0	0	0	1	0	0	0	4918	1087	38	1	727	1	EDN3	20	57899467	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	129763	57899467	5126053	1027	4204											
HRH3	11255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	60791451	60791451	+	Missense_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	gcccctcttgagtgagcgcgGcctctcagtgcccctcgagg	4	8	13	16	3	2	2	1	2	2	0	4	3	2	2	5	2	2	0	5	2	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:60791451G>A	ENST00000340177.5	-	3	1233	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	HRH3_ENST00000317393.6_Missense_Mutation_p.P317S	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	317					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)	AGTGAGCGCGGCCTCTCAGTG	0.706																																						.											0													7	7	7					20																	60791451		2146	4213	6359	SO:0001583	missense	11255			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.949C>T	20.37:g.60791451G>A	ENSP00000342560:p.Pro317Ser		Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643694	0.29246	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.69040	-0.3;-0.37	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.239450	0.36972	N	0.002304	T	0.55878	0.1948	M	0.64997	1.995	0.09310	N	1	B;B	0.24823	0.112;0.051	B;B	0.24541	0.032;0.054	T	0.44360	-0.9333	10	0.07482	T	0.82	-16.1255	7.4237	0.27085	0.0829:0.0:0.6663:0.2508	.	317;317	Q9Y5N1-2;Q9Y5N1	.;HRH3_HUMAN	S	317;317;287	ENSP00000342560:P317S;ENSP00000321482:P317S	ENSP00000321482:P317S	P	-	1	0	HRH3	60224846	0.961000	0.32948	0.987000	0.45799	0.965000	0.64279	2.510000	0.45468	2.185000	0.69588	0.407000	0.27541	CCG		0.706	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		A	60791451	G	A	60791451	3	1	43	1	0	0	0	0	1	0	0	0	7357	1203	42	3	392	3	HRH3	20	60791451	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2891984	60791451	2234069	1028	4205											
C20orf20	55257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	61429984	61429984	+	Missense_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	cgaatccagagaggaacttcGtccttccagaagagatcatt	13	9	9	10	2	1	3	1	0	0	3	5	7	4	4	3	1	1	0	3	1	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61429984G>A	ENST00000370487.3	+	3	387	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	106					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGGAACTTCGTCCTTCCAGA	0.483																																						.											0													142	141	142					20																	61429984		2203	4300	6503	SO:0001583	missense	55257			AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"chromosome 20 open reading frame 20"	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.316G>A	20.37:g.61429984G>A	ENSP00000359518:p.Val106Ile		A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089004	0.36855	.	.	ENSG00000101189	ENST00000370487	.	.	.	5.16	2.97	0.34412	.	0.301114	0.36893	N	0.002358	T	0.12263	0.0298	N	0.01482	-0.84	0.28329	N	0.921897	B	0.15473	0.013	B	0.12156	0.007	T	0.11665	-1.0578	9	0.33940	T	0.23	-21.2312	6.3757	0.21505	0.429:0.0:0.571:0.0	.	106	Q9NV56	MRGBP_HUMAN	I	106	.	ENSP00000359518:V106I	V	+	1	0	C20orf20	60900429	0.982000	0.34865	0.993000	0.49108	0.989000	0.77384	1.498000	0.35660	1.154000	0.42482	0.561000	0.74099	GTC		0.483	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270		A	61429984	G	A	61429984	3	1	43	1	0	0	0	0	1	0	0	0	2103	1145	40	1	326	1	C20orf20	20	61429984	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	638533	61429984	1595536	1029	4206											
NKAIN4	128414	broad.mit.edu;mdanderson.org	37	chr20	61878938	61878938	+	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	ccccacgctcaccgcgatcaGgatctgcaggcaactgtgta	9	7	10	15	3	3	0	2	0	1	0	3	2	3	1	3	2	2	4	3	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61878938G>A	ENST00000370316.3	-	4	552	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370313.1_Silent_p.L93L|NKAIN4_ENST00000370307.2_Silent_p.L93L	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ACCGCGATCAGGATCTGCAGG	0.701																																						.											0													19	17	18					20																	61878938		1898	3620	5518	SO:0001819	synonymous_variant	128414			BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"Na+/K+ transporting ATPase interacting"	16191	protein-coding gene	gene with protein product		612873	"chromosome 20 open reading frame 58"	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.463C>T	20.37:g.61878938G>A			Q4VXQ6|Q9BQU8|Q9BQU9	Silent	SNP	ENST00000370316.3	37	CCDS13514.1																																																																																				0.701	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864		A	61878938	G	A	61878938	2	1	43	1	0	0	0	0	0	0	0	1	10438	991	35	4		4	NKAIN4	20	61878938	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	448954	61878938	1146582	1030	4207											
CHRNA4	1137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	61981545	61981545	+	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	tccagggggacacagaaggaCggtgagggcgggtgcaggct	9	4	20	8	2	0	2	0	1	0	1	1	4	1	4	1	7	1	2	1	7	1	0	rs200528988		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61981545C>T	ENST00000370263.4	-	5	1439	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	406					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CACAGAAGGACGGTGAGGGCG	0.672																																						.											0													15	14	15					20																	61981545		2191	4283	6474	SO:0001819	synonymous_variant	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1218G>A	20.37:g.61981545C>T			Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																				0.672	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			T	61981545	C	T	61981545	2	4	43	1	0	0	0	0	0	0	0	1	3385	523	19	1		1	CHRNA4	20	61981545	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	102607	61981545	1043975	1031	4208											
KCNQ2	3785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	62065203	62065203	+	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	gttcgctcgtagtactgccaCgtggagtgcaggtctgtgcg	5	11	15	10	4	1	0	0	0	1	0	3	1	1	1	1	2	4	5	1	2	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62065203C>T	ENST00000359125.2	-	8	1251	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	KCNQ2_ENST00000344462.4_Silent_p.T359T|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000360480.3_Silent_p.T359T|KCNQ2_ENST00000354587.3_Silent_p.T359T|KCNQ2_ENST00000344425.5_Silent_p.T359T|KCNQ2_ENST00000359689.1_Silent_p.T359T|KCNQ2_ENST00000357249.2_Silent_p.T359T|KCNQ2_ENST00000370224.1_Silent_p.T359T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	359					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)	AGTACTGCCACGTGGAGTGCA	0.592																																						.											0													136	112	120					20																	62065203		2203	4300	6503	SO:0001819	synonymous_variant	3785			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.1077G>A	20.37:g.62065203C>T			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	CCDS13520.1																																																																																				0.592	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		T	62065203	C	T	62065203	2	4	43	1	0	0	0	0	0	0	0	1	8083	523	19	1		1	KCNQ2	20	62065203	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	83658	62065203	960317	1032	4209											
C20orf195	79025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	62187191	62187191	+	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	tgacctcggacctgagtccgCacctgctcaagcgccaccac	8	6	9	18	3	1	2	1	2	0	0	3	3	2	3	6	1	2	2	6	1	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62187191C>T	ENST00000370098.3	+	2	267	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	C20orf195_ENST00000370097.1_Missense_Mutation_p.H59Y	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	59						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)			CCTGAGTCCGCACCTGCTCAA	0.647																																						.											0													60	54	56					20																	62187191		2203	4300	6503	SO:0001583	missense	79025				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.175C>T	20.37:g.62187191C>T	ENSP00000359116:p.His59Tyr			Missense_Mutation	SNP	ENST00000370098.3	37	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164239	0.21538	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.26	4.31	0.51392	.	0.121992	0.36303	N	0.002662	T	0.26846	0.0657	N	0.24115	0.695	0.24081	N	0.995942	P	0.45176	0.852	B	0.43783	0.431	T	0.09930	-1.0652	9	0.66056	D	0.02	-28.4762	8.4646	0.32949	0.1533:0.7689:0.0:0.0778	.	59	Q9BVV2	CT195_HUMAN	Y	59	.	ENSP00000359115:H59Y	H	+	1	0	C20orf195	61657635	0.306000	0.24490	0.489000	0.27452	0.313000	0.28021	2.399000	0.44495	1.203000	0.43233	0.655000	0.94253	CAC		0.647	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		T	62187191	C	T	62187191	3	4	43	1	0	0	0	0	1	0	0	0	2100	710	25	4	177	4	C20orf195	20	62187191	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	121988	62187191	838329	1033	4210											
PRIC285	85441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	62200925	62200925	+	Missense_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	cacacggaagcgctcaccccGtgcgtagagccggcctggcg	7	4	14	16	6	1	1	1	0	0	1	1	2	1	2	4	3	3	2	4	3	2	1	rs371600411	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62200925G>A	ENST00000467148.1	-	4	733	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	222					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)										CGCTCACCCCGTGCGTAGAGC	0.667													G|||	3	0.000599042	0.0023	0	5008	,	,		16090	0		0	False		,,,				2504	0					.											0								G	TRP/ARG	1,4335		0,1,2167	13	14	14		664	-3.5	0	20		14	0,8544		0,0,4272	no	missense	PRIC285	NM_001037335.2	101	0,1,6439	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	222/2650	62200925	1,12879	2168	4272	6440	SO:0001583	missense	85441			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.664C>T	20.37:g.62200925G>A	ENSP00000417401:p.Arg222Trp		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627323	0.14257	2.31E-4	0.0	ENSG00000130589	ENST00000467148	T	0.02472	4.28	4.5	-3.51	0.04696	.	2.574830	0.01368	N	0.012460	T	0.02688	0.0081	L	0.36672	1.1	0.09310	N	1	D	0.61080	0.989	B	0.40534	0.332	T	0.35051	-0.9804	10	0.72032	D	0.01	-1.2993	2.2691	0.04086	0.1313:0.3039:0.2558:0.309	.	222	Q9BYK8	PR285_HUMAN	W	222	ENSP00000417401:R222W	ENSP00000417401:R222W	R	-	1	2	RP4-697K14.7	61671369	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.170000	0.09897	-1.144000	0.02862	0.563000	0.77884	CGG		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62200925	G	A	62200925	3	1	43	1	0	0	0	0	1	0	0	0	12485	1144	40	1	7372	1	PRIC285	20	62200925	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13734	62200925	824595	1034	4211											
RTEL1	51750	mdanderson.org	37	chr20	62322288	62322288	+	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	gaacagcgggcggggagcccTggcgaggagcaggtacagtt	9	4	19	9	3	0	0	0	0	0	0	0	4	0	2	1	6	5	3	1	6	2	2	rs3208007	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62322288T>C	ENST00000360203.5	+	27	2869	c.2544T>C	c.(2542-2544)ccT>ccC	p.P848P	RTEL1_ENST00000318100.4_Silent_p.P848P|RTEL1_ENST00000370018.3_Silent_p.P848P|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.P848P|RTEL1_ENST00000508582.2_Silent_p.P872P|RTEL1_ENST00000370003.1_Silent_p.P93P					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGGGGAGCCCTGGCGAGGAGC	0.692													C|||	3596	0.718051	0.9735	0.7161	5008	,	,		14969	0.2907		0.7952	False		,,,				2504	0.7352					.											0								C	,	3922,276		1840,242,17	15	16	16		2544,2616	-2	0	20	dbSNP_105	16	6536,1786		2569,1398,194	no	coding-synonymous,coding-synonymous	RTEL1	NM_016434.3,NM_032957.4	,	4409,1640,211	CC,CT,TT		21.4612,6.5746,16.4696	,	848/1220,872/1244	62322288	10458,2062	2099	4161	6260	SO:0001819	synonymous_variant	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2544T>C	20.37:g.62322288T>C				Silent	SNP	ENST00000360203.5	37																																																																																					0.692	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		C	62322288	T	C	62322288	2	2	43	1	0	0	0	0	0	0	0	1	13720	1567	55	2		2	RTEL1	20	62322288	Silent	SNP	T	TCGA-KN-8428-01A-11D-2310-10	121363	62322288	703232	1035	4212											
UCKL1	54963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	62571654	62571654	+	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	atcttgtcctcaggcacgtcGtggtcctaccgagtgtattg	6	13	11	11	3	2	0	1	0	1	0	5	1	4	0	3	2	1	2	3	2	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62571654G>A	ENST00000354216.6	-	14	1458	c.1416C>T	c.(1414-1416)caC>caT	p.H472H	UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.H472H|MIR1914_ENST00000607800.1_RNA|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.H457H	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	472					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)					CAGGCACGTCGTGGTCCTACC	0.577																																						.											0													114	89	97					20																	62571654		2198	4292	6490	SO:0001819	synonymous_variant	54963			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.1416C>T	20.37:g.62571654G>A			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	CCDS13547.1																																																																																				0.577	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		A	62571654	G	A	62571654	2	1	43	1	0	0	0	0	0	0	0	1	16922	1136	40	1		1	UCKL1	20	62571654	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	249366	62571654	453866	1036	4213											
ZNF512B	57473	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr20	62598240	62598240	+	Missense_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	gtcccttaccccttggcaccGctggtaatggtacttgagcc	6	11	10	14	1	0	1	0	1	0	0	1	1	1	1	5	3	3	4	5	3	3	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62598240G>A	ENST00000450537.1	-	4	442	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R128W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R128W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	128					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)					CCTTGGCACCGCTGGTAATGG	0.612																																						.											0													106	93	98					20																	62598240		2203	4300	6503	SO:0001583	missense	57473			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.382C>T	20.37:g.62598240G>A	ENSP00000393795:p.Arg128Trp		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976442	0.92982	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.39056	1.1;1.1;1.1	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	L	0.29908	0.895	0.51482	D	0.999921	D	0.89917	1.0	D	0.91635	0.999	T	0.58364	-0.7649	10	0.87932	D	0	-24.539	17.032	0.86463	0.0:0.0:1.0:0.0	.	128	Q96KM6	Z512B_HUMAN	W	128	ENSP00000358904:R128W;ENSP00000393795:R128W;ENSP00000217130:R128W	ENSP00000217130:R128W	R	-	1	2	ZNF512B	62068684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.065000	0.93941	2.451000	0.82905	0.585000	0.79938	CGG		0.612	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		A	62598240	G	A	62598240	3	1	43	1	0	0	0	0	1	0	0	0	17954	1086	38	1	2352	1	ZNF512B	20	62598240	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	26586	62598240	427280	1037	4214											
RNF160	26046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr21	30307615	30307615	+	Missense_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	tcatatgatagactgaacaaGccaagtgtggaatgtggtat	14	11	11	5	0	1	3	1	2	0	1	1	4	1	4	1	2	2	1	1	2	7	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:30307615G>A	ENST00000361371.5	-	27	4770	c.4691C>T	c.(4690-4692)gCt>gTt	p.A1564V	LTN1_ENST00000389194.2_Missense_Mutation_p.A1610V			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1564					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						GACTGAACAAGCCAAGTGTGG	0.333																																						.											0													92	80	84					21																	30307615		2203	4300	6503	SO:0001583	missense	26046			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.4691C>T	21.37:g.30307615G>A	ENSP00000354977:p.Ala1564Val		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.977803	0.92982	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.24538	1.85;1.86	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.25572	-1.0128	10	0.54805	T	0.06	.	19.0456	0.93018	0.0:0.0:1.0:0.0	.	1564	O94822	LTN1_HUMAN	V	1610;1564	ENSP00000373846:A1610V;ENSP00000354977:A1564V	ENSP00000354977:A1564V	A	-	2	0	LTN1	29229486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.738000	0.93877	0.591000	0.81541	GCT		0.333	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		A	30307615	G	A	30307615	3	1	43	1	0	0	0	0	1	0	0	0	13455	971	34	4	625	4	RNF160	21	30307615	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		30307615	17822280	1038	4215											
ITSN1	6453	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr21	35260567	35260567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccccacgggagagattgTggtccgcttggacctgcagt	7	9	14	11	2	0	1	0	0	0	1	2	4	2	3	4	3	1	2	4	3	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:35260567T>C	ENST00000381318.3	+	40	5417	c.5129T>C	c.(5128-5130)gTg>gCg	p.V1710A	ITSN1_ENST00000399367.3_Missense_Mutation_p.V1705A|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.V1649A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V1710A|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1710					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						GGAGAGATTGTGGTCCGCTTG	0.592																																						.											0													68	60	63					21																	35260567		2203	4300	6503	SO:0001583	missense	6453			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.5129T>C	21.37:g.35260567T>C	ENSP00000370719:p.Val1710Ala		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	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916719	0.73098	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.65	5.65	0.86999	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.38175	1.15	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.994	D;D;D	0.75484	0.986;0.97;0.97	T	0.71407	-0.4602	10	0.29301	T	0.29	.	15.8787	0.79185	0.0:0.0:0.0:1.0	.	1649;1705;1710	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	A	1710;1710;1639;1705;1649	ENSP00000370719:V1710A;ENSP00000370685:V1710A;ENSP00000382301:V1705A;ENSP00000387377:V1649A	ENSP00000370685:V1710A	V	+	2	0	ITSN1	34182437	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.671000	0.83941	2.139000	0.66308	0.533000	0.62120	GTG		0.592	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		C	35260567	T	C	35260567	3	2	43	1	0	0	0	0	1	0	0	0	7926	1696	59	2	5289	2	ITSN1	21	35260567	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	4952952	35260567	12869328	1039	4216											
KCNE1	3753	mdanderson.org	37	chr21	35821711	35821711	+	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	tagacgttgaatgggtcgttCgagtgctccagcttcttgga	7	13	13	8	3	1	2	0	1	1	1	4	4	2	3	1	2	2	4	1	2	2	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:35821711C>T	ENST00000337385.3	-	3	597	c.222G>A	c.(220-222)tcG>tcA	p.S74S	KCNE1_ENST00000399284.1_Silent_p.S74S|KCNE1_ENST00000416357.2_Silent_p.S74S|KCNE1_ENST00000399289.3_Silent_p.S74S|KCNE1_ENST00000432085.1_Silent_p.S74S|KCNE1_ENST00000399286.2_Silent_p.S74S	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	74			S -> L (in LQT5). {ECO:0000269|PubMed:9354802}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATGGGTCGTTCGAGTGCTCCA	0.572																																						.											0													95	81	86					21																	35821711		2203	4300	6503	SO:0001819	synonymous_variant	3753			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"Potassium channels"	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.222G>A	21.37:g.35821711C>T			A5H1P2|Q8N709|Q91Z94	Silent	SNP	ENST00000337385.3	37	CCDS13636.1																																																																																				0.572	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			T	35821711	C	T	35821711	2	4	43	1	0	0	0	0	0	0	0	1	8021	871	31	1		1	KCNE1	21	35821711	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	561144	35821711	12308184	1040	4217											
IGSF5	150084	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr21	41151173	41151173	+	Missense_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	acgctgctgctgctgccgccGtcgttgttgtggctgcaact	3	12	13	13	4	0	0	0	0	0	0	1	0	0	0	2	1	6	8	2	1	1	2	rs199672249		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:41151173G>A	ENST00000380588.4	+	5	978	c.875G>A	c.(874-876)cGt>cAt	p.R292H	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	292	Cys-rich.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				tgctgccgccgtcgttgttgt	0.463													-|||	1	0.000199681	0	0	5008	,	,		16702	0		0.001	False		,,,				2504	0					.											0								G	HIS/ARG	1,4405		0,1,2202	55	53	54		875	-2.3	0	21		54	2,8598		0,2,4298	no	missense	IGSF5	NM_001080444.1	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	292/408	41151173	3,13003	2203	4300	6503	SO:0001583	missense	150084				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.875G>A	21.37:g.41151173G>A	ENSP00000369962:p.Arg292His			Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	10.72	1.429696	0.25726	2.27E-4	2.33E-4	ENSG00000183067	ENST00000380588	T	0.06768	3.26	4.24	-2.27	0.06846	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41538	-0.9503	9	0.72032	D	0.01	.	1.1088	0.01700	0.4273:0.1665:0.2534:0.1528	.	292	Q9NSI5	IGSF5_HUMAN	H	292	ENSP00000369962:R292H	ENSP00000369962:R292H	R	+	2	0	IGSF5	40073043	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.137000	0.15995	-0.476000	0.06842	-0.140000	0.14226	CGT		0.463	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			A	41151173	G	A	41151173	3	1	43	1	0	0	0	0	1	0	0	0	7602	1145	40	1	893	1	IGSF5	21	41151173	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5329462	41151173	6978722	1041	4218											
UMODL1	89766	mdanderson.org	37	chr21	43531403	43531403	+	Intron	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	gccaggtgaaccccagccagCggagcaccagccacgcgaac	11	1	12	17	3	0	1	0	1	0	0	0	3	0	2	6	2	6	1	6	2	2	0	rs220127	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:43531403C>G	ENST00000408910.2	+	11	1899				UMODL1_ENST00000400424.2_Intron|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Missense_Mutation_p.R691G|UMODL1_ENST00000400427.1_Missense_Mutation_p.R619G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						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						CCCCAGCCAGCGGAGCACCAG	0.731													G|||	3619	0.722644	0.4304	0.8343	5008	,	,		9993	0.881		0.8062	False		,,,				2504	0.7894				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											0								-	,GLY/ARG,,GLY/ARG	2088,1402		642,804,299	4	7	6		,1855,,2071	-3.3	0	21	dbSNP_79	6	6286,1428		2593,1100,164	no	intron,missense,intron,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,125,,125	3235,1904,463	GG,GC,CC		18.5118,40.1719,25.2588	,benign,,benign	,619/1375,,691/1447	43531403	8374,2830	1745	3857	5602	SO:0001627	intron_variant	89766				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.1899+172C>G	21.37:g.43531403C>G			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	1618	0.7408424908424909	212	0.43089430894308944	295	0.8149171270718232	490	0.8566433566433567	621	0.8192612137203166	G	2.002	-0.429238	0.04701	0.598281	0.814882	ENSG00000177398	ENST00000400427;ENST00000408989	T;T	0.71461	-0.57;-0.37	2.16	-3.33	0.04958	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	7	0.19590	T	0.45	.	2.0086	0.03482	0.2061:0.4652:0.166:0.1626	rs220127;rs520946	691	Q5DID0-2	.	G	619;691	ENSP00000383279:R619G;ENSP00000386126:R691G	ENSP00000383279:R619G	R	+	1	2	UMODL1	42404472	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.665000	0.05286	-1.264000	0.02452	-1.000000	0.02509	CGG		0.731	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			G	43531403	C	G	43531403	1	3	43	0	1	0	0	0	0	0	0	0	16977	759	27	5		5	UMODL1	21	43531403	Intron	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2380230	43531403	4598492	1042	4219											
CCT8L2	150160	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr22	17072519	17072519	+	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	caccacgatgccatacttgtCcgccagtgtgagggtctcct	7	10	10	14	2	1	1	0	1	1	0	3	2	2	1	5	1	2	0	5	1	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:17072519C>T	ENST00000359963.3	-	1	1181	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	308					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)				CCATACTTGTCCGCCAGTGTG	0.532																																						.											0													189	167	174					22																	17072519		2203	4300	6503	SO:0001583	missense	150160			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.922G>A	22.37:g.17072519C>T	ENSP00000353048:p.Asp308Asn		A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.400013	0.01165	.	.	ENSG00000198445	ENST00000359963	T	0.77358	-1.09	1.98	1.98	0.26296	.	0.178508	0.26457	N	0.024274	T	0.43700	0.1259	N	0.02158	-0.66	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.41928	-0.9481	10	0.02654	T	1	-16.9039	7.4423	0.27190	0.0:1.0:0.0:0.0	.	308	Q96SF2	TCPQM_HUMAN	N	308	ENSP00000353048:D308N	ENSP00000353048:D308N	D	-	1	0	CCT8L2	15452519	0.128000	0.22383	0.002000	0.10522	0.007000	0.05969	1.637000	0.37155	1.115000	0.41800	0.379000	0.24179	GAC		0.532	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17072519	C	T	17072519	3	4	43	1	0	0	0	0	1	0	0	0	2961	855	30	3	755	3	CCT8L2	22	17072519	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10		17072519	34232047	1043	4220											
PRODH	5625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	18912624	18912624	+	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	gtcgcacttggcctcattggCgtagaagtaggtgcgggcac	7	9	15	10	3	1	1	1	0	0	1	2	1	1	1	1	4	1	4	1	4	3	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:18912624C>T	ENST00000357068.6	-	4	872	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	PRODH_ENST00000420436.1_Missense_Mutation_p.A95T|PRODH_ENST00000334029.2_Missense_Mutation_p.A95T	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	203					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCCTCATTGGCGTAGAAGTAG	0.597																																						.											0													136	117	124					22																	18912624		2203	4300	6503	SO:0001583	missense	5625			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.607G>A	22.37:g.18912624C>T	ENSP00000349577:p.Ala203Thr		A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	CCDS13754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	23.7|23.7	4.447846|4.447846	0.84101|0.84101	.|.	.|.	ENSG00000100033|ENSG00000100033	ENST00000357068;ENST00000438924;ENST00000450579|ENST00000457083	T;T|.	0.75938|.	-0.98;-0.98|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69593|0.69593	0.3128|0.3128	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999999|0.999999	D;P;P|.	0.55385|.	0.971;0.95;0.87|.	B;B;B|.	0.40165|.	0.321;0.265;0.184|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.28530|.	T|.	0.3|.	-18.4529|-18.4529	16.2912|16.2912	0.82752|0.82752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	119;203;95|.	O43272-1;O43272;E7EQL6|.	.;PROD_HUMAN;.|.	T|H	203;85;44|126	ENSP00000349577:A203T;ENSP00000396806:A44T|.	ENSP00000334726:A95T|.	A|R	-|-	1|2	0|0	PRODH|PRODH	17292624|17292624	0.997000|0.997000	0.39634|0.39634	0.995000|0.995000	0.50966|0.50966	0.847000|0.847000	0.48162|0.48162	4.493000|4.493000	0.60341|0.60341	2.528000|2.528000	0.85240|0.85240	0.450000|0.450000	0.29827|0.29827	GCC|CGC		0.597	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		T	18912624	C	T	18912624	3	4	43	1	0	0	0	0	1	0	0	0	12548	768	27	1	1239	1	PRODH	22	18912624	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1840105	18912624	32391942	1044	4221											
SEPT5	5413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	19707904	19707904	+	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	agtacttccgtgatgagagcGgcctcaaccgaaagaacatc	13	7	10	11	3	1	3	1	2	0	2	3	5	2	3	3	1	4	1	3	1	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:19707904G>A	ENST00000455784.2	+	6	549	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.G142S|SEPT5_ENST00000438754.2_Missense_Mutation_p.G151S|SEPT5_ENST00000383045.3_Missense_Mutation_p.G151S	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	142	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGATGAGAGCGGCCTCAACCG	0.597																																						.											0													158	142	147					22																	19707904		2203	4300	6503	SO:0001583	missense	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.424G>A	22.37:g.19707904G>A	ENSP00000391311:p.Gly142Ser		O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.046567|5.046567	0.93740|0.93740	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109|ENST00000413258	T;T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74;0.74|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73628|0.73628	0.3611|0.3611	M|M	0.72624|0.72624	2.21|2.21	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75340|0.75340	-0.3352|-0.3352	10|5	0.66056|.	D|.	0.02|.	.|.	16.403|16.403	0.83649|0.83649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	142|.	Q99719|.	SEPT5_HUMAN|.	S|Q	142;142;113;95;180;151;151;95|38	ENSP00000391311:G142S;ENSP00000384535:G142S;ENSP00000408678:G95S;ENSP00000414488:G180S;ENSP00000372515:G151S;ENSP00000394541:G151S;ENSP00000378541:G95S|.	ENSP00000372515:G151S|.	G|R	+|+	1|2	0|0	SEPT5|SEPT5	18087904|18087904	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.765000|0.765000	0.43378|0.43378	7.612000|7.612000	0.82975|0.82975	2.154000|2.154000	0.67381|0.67381	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		A	19707904	G	A	19707904	3	1	43	1	0	0	0	0	1	0	0	0	14067	1116	39	1	446	1	SEPT5	22	19707904	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	795280	19707904	31596662	1045	4222											
C22orf29	79680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	19839716	19839716	+	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	atctgctgccatggatgtgcGttggcataattggcggctgc	6	12	14	9	2	1	0	0	0	1	0	1	1	1	1	1	4	4	4	1	4	1	3	rs376068168		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:19839716G>A	ENST00000405640.1	-	2	737	c.69C>T	c.(67-69)aaC>aaT	p.N23N	C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Silent_p.N23N|C22orf29_ENST00000407472.1_Silent_p.N23N|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	23					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGGATGTGCGTTGGCATAAT	0.642																																						.											0								G	,	0,4406		0,0,2203	81	76	78		69,	-7.4	0	22		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	GNB1L,C22orf29	NM_024627.5,NM_053004.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	23/365,	19839716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79680			BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.69C>T	22.37:g.19839716G>A			A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Silent	SNP	ENST00000405640.1	37	CCDS13769.1																																																																																				0.642	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		A	19839716	G	A	19839716	2	1	43	1	0	0	0	0	0	0	0	1	2141	1136	40	1		1	C22orf29	22	19839716	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	131812	19839716	31464850	1046	4223											
PI4KA	5297	broad.mit.edu;mdanderson.org	37	chr22	21082095	21082095	+	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	ggcacatcactaacggctccCgggtccaaccgaacgagacg	11	4	11	15	5	1	1	1	0	0	1	3	3	3	1	3	3	3	2	3	3	3	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:21082095C>T	ENST00000572273.1	-	40	4796	c.4566G>A	c.(4564-4566)ccG>ccA	p.P1522P	PI4KA_ENST00000414196.3_Silent_p.P332P|AC007308.6_ENST00000430719.1_RNA|PI4KA_ENST00000255882.6_Silent_p.P1580P			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1522	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TAACGGCTCCCGGGTCCAACC	0.542																																					GBM(136;1332 1831 3115 23601 50806)	.											0													135	106	116					22																	21082095		2203	4300	6503	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4566G>A	22.37:g.21082095C>T			Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.542	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		T	21082095	C	T	21082095	2	4	43	1	0	0	0	0	0	0	0	1	11873	639	23	1		1	PI4KA	22	21082095	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1242379	21082095	30222471	1047	4224											
ZNF280A	129025	broad.mit.edu;bcgsc.ca	37	chr22	22868961	22868961	+	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	gtgctggcaggtggtgtggtCttcccagctgtcgttcctct	2	14	14	11	1	2	0	0	0	2	0	5	0	4	0	2	4	2	4	2	4	0	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:22868961C>T	ENST00000302097.3	-	2	1246	c.994G>A	c.(994-996)Gac>Aac	p.D332N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	332					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(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	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)		GTGGTGTGGTCTTCCCAGCTG	0.478																																						.											0													146	130	136					22																	22868961		2203	4300	6503	SO:0001583	missense	129025			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.994G>A	22.37:g.22868961C>T	ENSP00000302855:p.Asp332Asn			Missense_Mutation	SNP	ENST00000302097.3	37	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	c	0.591	-0.832942	0.02713	.	.	ENSG00000169548	ENST00000302097	T	0.01092	5.35	3.9	-1.13	0.09775	.	.	.	.	.	T	0.00412	0.0013	N	0.00538	-1.39	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.12430	T	0.62	0.3313	6.2591	0.20889	0.0:0.0988:0.2772:0.624	.	332	P59817	Z280A_HUMAN	N	332	ENSP00000302855:D332N	ENSP00000302855:D332N	D	-	1	0	ZNF280A	21198961	0.996000	0.38824	0.113000	0.21522	0.730000	0.41778	2.624000	0.46444	-0.274000	0.09232	-1.044000	0.02363	GAC		0.478	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		T	22868961	C	T	22868961	3	4	43	1	0	0	0	0	1	0	0	0	17811	913	32	4	638	4	ZNF280A	22	22868961	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1786866	22868961	28435605	1048	4225											
IGLL5	100423062	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	23230424	23230424	+	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	aagcagccgatccagcctgcGgagcctgtggggcaggtaag	9	5	16	11	2	0	0	0	0	0	0	1	2	1	1	4	4	5	3	4	4	2	1	rs534077784	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:23230424G>A	ENST00000526893.1	+	1	465	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	IGLL5_ENST00000532223.2_Missense_Mutation_p.R64Q|hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.R64Q	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	64						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TCCAGCCTGCGGAGCCTGTGG	0.647													G|||	2	0.000399361	0.0015	0	5008	,	,		11770	0		0	False		,,,				2504	0					.											0																																										SO:0001583	missense	100423062			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.191G>A	22.37:g.23230424G>A	ENSP00000431254:p.Arg64Gln			Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.191	1.025926	0.19512	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00571	6.53;6.5	3.92	-2.68	0.06041	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40720	-0.9548	9	0.87932	D	0	.	5.98	0.19401	0.3958:0.1334:0.4708:0.0	.	64	B9A064	IGLL5_HUMAN	Q	64	ENSP00000436353:R64Q;ENSP00000431254:R64Q	ENSP00000431254:R64Q	R	+	2	0	IGLL5	21560424	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.573000	0.02134	-0.708000	0.05015	-0.829000	0.03081	CGG		0.647	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		A	23230424	G	A	23230424	3	1	43	1	0	0	0	0	1	0	0	0	7594	1116	39	1	193	1	IGLL5	22	23230424	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	361463	23230424	28074142	1049	4226											
GNAZ	2781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	23438268	23438268	+	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	cgagctgctgggtgtcatgcGacggctctgggccgacccag	5	7	16	13	4	2	0	1	0	1	0	2	3	2	0	2	3	3	3	2	3	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:23438268G>A	ENST00000248996.4	+	2	1052	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	129					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGTGTCATGCGACGGCTCTGG	0.677																																						.											0													54	54	54					22																	23438268		2203	4299	6502	SO:0001583	missense	2781				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.386G>A	22.37:g.23438268G>A	ENSP00000248996:p.Arg129Gln		B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785671	0.31593	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88586	-2.4	4.85	2.38	0.29361	G protein alpha subunit, helical insertion (2);	0.055374	0.64402	D	0.000001	T	0.77370	0.4120	N	0.21194	0.64	0.35898	D	0.830197	B	0.06786	0.001	B	0.01281	0.0	T	0.72465	-0.4285	10	0.42905	T	0.14	.	4.3483	0.11143	0.4511:0.0:0.5489:0.0	.	129	P19086	GNAZ_HUMAN	Q	129;77	ENSP00000248996:R129Q	ENSP00000248996:R129Q	R	+	2	0	GNAZ	21768268	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.248000	0.72418	1.197000	0.43143	0.655000	0.94253	CGA		0.677	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		A	23438268	G	A	23438268	3	1	43	1	0	0	0	0	1	0	0	0	6514	1058	37	1	388	1	GNAZ	22	23438268	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	207844	23438268	27866298	1050	4227											
SMARCB1	6598	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	24176351	24176351	+	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	gatgaggcgtcttgccaacaCggccccggcctggtaaccag	8	6	13	14	3	1	1	0	1	1	0	1	2	1	1	5	4	3	1	5	4	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24176351C>T	ENST00000263121.7	+	9	1338	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Missense_Mutation_p.T335M|SMARCB1_ENST00000407422.3_Missense_Mutation_p.T372M|SMARCB1_ENST00000344921.6_Missense_Mutation_p.T390M	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	381					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|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)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTTGCCAACACGGCCCCGGCC	0.652			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																.	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	3	Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)											34	26	29					22																	24176351		2193	4297	6490	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1142C>T	22.37:g.24176351C>T	ENSP00000263121:p.Thr381Met		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346690	0.61073	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.94417	-3.42;-3.41;-3.42;-3.33	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.983;0.988	D	0.96175	0.9126	10	0.62326	D	0.03	-17.4606	17.8693	0.88806	0.0:1.0:0.0:0.0	.	390;372;381	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	M	390;381;372;335	ENSP00000340883:T390M;ENSP00000263121:T381M;ENSP00000383984:T372M;ENSP00000385226:T335M	ENSP00000263121:T381M	T	+	2	0	SMARCB1	22506351	1.000000	0.71417	0.998000	0.56505	0.132000	0.20833	7.508000	0.81686	2.544000	0.85801	0.543000	0.68304	ACG		0.652	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		T	24176351	C	T	24176351	3	4	43	1	0	0	0	0	1	0	0	0	14774	536	19	1	1176	1	SMARCB1	22	24176351	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	738083	24176351	27128215	1051	4228											
ADORA2A	135	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	24836835	24836835	+	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	gatcttcctggcggcgcgacGacagctgaagcagatggaga	10	6	15	10	4	1	3	0	1	1	2	2	7	2	3	1	3	2	2	1	3	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24836835G>A	ENST00000337539.7	+	3	1076	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_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	206					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)	GCGGCGCGACGACAGCTGAAG	0.592																																						.											0													137	137	137					22																	24836835		2203	4300	6503	SO:0001583	missense	135			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.617G>A	22.37:g.24836835G>A	ENSP00000336630:p.Arg206Gln		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132314	0.56828	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.41400	1.0;1.0	5.13	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.066245	0.64402	D	0.000009	T	0.27629	0.0679	L	0.38649	1.16	0.38637	D	0.951517	P	0.37824	0.609	B	0.27170	0.077	T	0.19778	-1.0295	10	0.59425	D	0.04	-14.2909	9.1234	0.36801	0.1663:0.0:0.8337:0.0	.	206	P29274	AA2AR_HUMAN	Q	206	ENSP00000414802:R206Q;ENSP00000336630:R206Q	ENSP00000336630:R206Q	R	+	2	0	ADORA2A	23166835	1.000000	0.71417	0.969000	0.41365	0.881000	0.50899	5.322000	0.65852	1.156000	0.42514	0.462000	0.41574	CGA		0.592	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		A	24836835	G	A	24836835	3	1	43	1	0	0	0	0	1	0	0	0	327	1058	37	1	623	1	ADORA2A	22	24836835	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	660484	24836835	26467731	1052	4229											
ADORA2A	135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	24837116	24837116	+	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	gcgagttccgccagaccttcCgcaagatcattcgcagccac	9	7	9	16	4	1	2	1	0	0	2	4	3	3	2	5	0	1	3	5	0	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24837116C>T	ENST00000337539.7	+	3	1357	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_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	300			R -> H (in dbSNP:rs4990).		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)	CCAGACCTTCCGCAAGATCAT	0.582																																						.											0													75	66	69					22																	24837116		2203	4300	6503	SO:0001583	missense	135			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.898C>T	22.37:g.24837116C>T	ENSP00000336630:p.Arg300Cys		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250623	0.59212	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.40476	1.03;1.03	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	B	0.42916	0.402	T	0.39143	-0.9628	10	0.40728	T	0.16	-50.0074	12.9218	0.58237	0.162:0.8379:0.0:0.0	.	300	P29274	AA2AR_HUMAN	C	300	ENSP00000414802:R300C;ENSP00000336630:R300C	ENSP00000336630:R300C	R	+	1	0	ADORA2A	23167116	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.516000	0.60496	2.473000	0.83533	0.462000	0.41574	CGC		0.582	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		T	24837116	C	T	24837116	3	4	43	1	0	0	0	0	1	0	0	0	327	652	23	1	904	1	ADORA2A	22	24837116	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	281	24837116	26467450	1053	4230											
MYO18B	84700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	26422449	26422449	+	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	ggacactgagaggacccagtCggcattggcactgagcagag	11	5	15	10	1	0	3	0	2	0	2	1	6	0	5	1	4	1	3	1	4	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:26422449C>T	ENST00000407587.2	+	43	6681	c.6512C>T	c.(6511-6513)tCg>tTg	p.S2171L	MYO18B_ENST00000335473.7_Missense_Mutation_p.S2170L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2170L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2170						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						AGGACCCAGTCGGCATTGGCA	0.507																																						.											0													112	122	119					22																	26422449		1922	4134	6056	SO:0001583	missense	84700			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.6512C>T	22.37:g.26422449C>T	ENSP00000386096:p.Ser2171Leu		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.35|11.35	1.612358|1.612358	0.28712|0.28712	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86627	.|-2.13;-2.13;-2.15	4.28|4.28	-0.72|-0.72	0.11195|0.11195	.|.	.|.	.|.	.|.	.|.	T|T	0.69548|0.69548	0.3123|0.3123	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.26935	.|0.164;0.102;0.043;0.002;0.072	.|B;B;B;B;B	.|0.14578	.|0.011;0.005;0.005;0.001;0.011	T|T	0.55685|0.55685	-0.8102|-0.8102	5|9	.|0.28530	.|T	.|0.3	.|.	7.9115|7.9115	0.29793|0.29793	0.0:0.5385:0.3586:0.1029|0.0:0.5385:0.3586:0.1029	.|.	.|1683;2172;2170;2171;2170	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	W|L	120|2170;2170;2171	.|ENSP00000441229:S2170L;ENSP00000334563:S2170L;ENSP00000386096:S2171L	.|ENSP00000334563:S2170L	R|S	+|+	1|2	2|0	MYO18B|MYO18B	24752449|24752449	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.212000|-0.212000	0.09319|0.09319	0.019000|0.019000	0.15079|0.15079	0.591000|0.591000	0.81541|0.81541	CGG|TCG		0.507	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26422449	C	T	26422449	3	4	43	1	0	0	0	0	1	0	0	0	10066	893	31	1	6675	1	MYO18B	22	26422449	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1585333	26422449	24882117	1054	4231											
SEZ6L	23544	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	26688611	26688611	+	Missense_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	aggaggcccgccccaagcacGccttgccccccaagaagaaa	12	2	10	17	2	0	2	0	0	0	2	0	3	0	3	7	2	2	1	7	2	4	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:26688611G>A	ENST00000248933.6	+	2	429	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A112T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A112T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A112T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A112T|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	112					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						CCCCAAGCACGCCTTGCCCCC	0.647																																						.											0													43	36	39					22																	26688611		2203	4300	6503	SO:0001583	missense	23544			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.334G>A	22.37:g.26688611G>A	ENSP00000248933:p.Ala112Thr		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	1.111	-0.658295	0.03454	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.15	-7.7	0.01259	.	1.340970	0.05467	N	0.552354	T	0.10380	0.0254	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B;B	0.23891	0.001;0.001;0.009;0.093;0.001;0.001	B;B;B;B;B;B	0.12837	0.001;0.001;0.005;0.008;0.001;0.001	T	0.20009	-1.0288	10	0.13108	T	0.6	.	3.7933	0.08730	0.5686:0.1179:0.2071:0.1064	.	112;112;112;112;112;112	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	T	112	ENSP00000384772:A112T;ENSP00000437037:A112T;ENSP00000354185:A112T;ENSP00000248933:A112T;ENSP00000342661:A112T	ENSP00000248933:A112T	A	+	1	0	SEZ6L	25018611	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.512000	0.06313	-1.455000	0.01923	-0.300000	0.09419	GCC		0.647	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26688611	G	A	26688611	3	1	43	1	0	0	0	0	1	0	0	0	14143	1087	38	1	340	1	SEZ6L	22	26688611	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	266162	26688611	24615955	1055	4232											
CHEK2	11200	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr22	29091740	29091740	+	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	aactccagcagtccacagcaCggttatacccagcagtccca	12	6	7	16	1	0	0	0	0	0	0	3	0	3	0	4	1	5	4	4	1	3	2	rs200649225		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:29091740C>T	ENST00000405598.1	-	12	1408	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	CHEK2_ENST00000382578.1_Missense_Mutation_p.R315H|CHEK2_ENST00000403642.1_Missense_Mutation_p.R315H|CHEK2_ENST00000328354.6_Missense_Mutation_p.R406H|CHEK2_ENST00000404276.1_Missense_Mutation_p.R406H|CHEK2_ENST00000544772.1_Missense_Mutation_p.R185H|CHEK2_ENST00000348295.3_Missense_Mutation_p.R377H|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.R449H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R377H			O96017	CHK2_HUMAN	checkpoint kinase 2	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs299671).		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTCCACAGCACGGTTATACCC	0.443			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					C|||	1	0.000199681	0	0	5008	,	,		19868	0		0	False		,,,				2504	0.001					.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	40	41	41		1346,1217,1130	3.5	0.9	22		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	449/587,406/544,377/515	29091740	1,13005	2203	4300	6503	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1217G>A	22.37:g.29091740C>T	ENSP00000386087:p.Arg406His		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.191485|4.191485	0.78902|0.78902	0.0|0.0	1.16E-4|1.16E-4	ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	T;T;T;T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	5.73|5.73	3.53|3.53	0.40419|0.40419	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.264364|.	0.40064|.	N|.	0.001198|.	T|T	0.52901|0.52901	0.1763|0.1763	L|L	0.37850|0.37850	1.14|1.14	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D;D;D|.	0.89917|.	1.0;0.997;1.0;1.0;0.997;0.999|.	P;P;D;D;P;P|.	0.69307|.	0.858;0.839;0.963;0.953;0.763;0.766|.	T|T	0.47560|0.47560	-0.9108|-0.9108	10|5	0.59425|.	D|.	0.04|.	-8.0499|-8.0499	10.4422|10.4422	0.44472|0.44472	0.0:0.7927:0.1342:0.0731|0.0:0.7927:0.1342:0.0731	.|.	315;185;406;377;406;449|.	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.	.;.;.;.;CHK2_HUMAN;.|.	H|M	377;315;89;185;406;406;406;449;315;377|150	ENSP00000329012:R377H;ENSP00000372021:R315H;ENSP00000442458:R185H;ENSP00000329178:R406H;ENSP00000385747:R406H;ENSP00000386087:R406H;ENSP00000372023:R449H;ENSP00000384919:R315H;ENSP00000384835:R377H|.	ENSP00000329178:R406H|.	R|V	-|-	2|1	0|0	CHEK2|CHEK2	27421740|27421740	0.854000|0.854000	0.29725|0.29725	0.920000|0.920000	0.36463|0.36463	0.956000|0.956000	0.61745|0.61745	1.622000|1.622000	0.36997|0.36997	1.429000|1.429000	0.47314|0.47314	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.443	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		T	29091740	C	T	29091740	3	4	43	1	0	0	0	0	1	0	0	0	3335	536	19	1	434	1	CHEK2	22	29091740	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2403129	29091740	22212826	1056	4233											
GAL3ST1	9514	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	30951743	30951743	+	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	gagcaccgtgatgaagatggCgttggtcggcaccaggccgc	8	6	16	11	4	0	3	0	2	0	1	1	4	0	3	3	4	1	3	3	4	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:30951743C>T	ENST00000402321.1	-	3	786	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A157T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A157T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	157					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ATGAAGATGGCGTTGGTCGGC	0.657																																						.											0													78	82	81					22																	30951743		2203	4300	6503	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.469G>A	22.37:g.30951743C>T	ENSP00000385735:p.Ala157Thr		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301624	0.23736	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899	T;T;T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.11	4.06	0.47325	.	0.050236	0.85682	D	0.000000	T	0.06096	0.0158	N	0.13371	0.34	0.80722	D	1	P	0.43314	0.803	B	0.33295	0.161	T	0.15578	-1.0432	10	0.02654	T	1	-23.5279	14.5964	0.68410	0.1566:0.8434:0.0:0.0	.	157	Q99999	G3ST1_HUMAN	T	157;157;157;157;157;157;157;157;158;157;157;157;158	ENSP00000385825:A157T;ENSP00000385735:A157T;ENSP00000384122:A157T;ENSP00000384388:A157T;ENSP00000343234:A157T;ENSP00000385207:A157T;ENSP00000402587:A157T;ENSP00000390545:A157T;ENSP00000395080:A158T;ENSP00000405017:A157T;ENSP00000401426:A157T;ENSP00000391485:A157T;ENSP00000397092:A158T	ENSP00000343234:A157T	A	-	1	0	GAL3ST1	29281743	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	0.766000	0.26560	1.048000	0.40298	0.491000	0.48974	GCC		0.657	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		T	30951743	C	T	30951743	3	4	43	1	0	0	0	0	1	0	0	0	6197	768	27	1	806	1	GAL3ST1	22	30951743	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1860003	30951743	20352823	1057	4234											
MORC2	22880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	31328607	31328607	+	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	tgtcaggctcaatgcggaggCattcggaagtggagggctct	8	9	16	8	2	3	0	2	0	1	0	4	3	3	3	0	6	1	3	0	6	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31328607C>T	ENST00000397641.3	-	23	3080	c.2672G>A	c.(2671-2673)tGc>tAc	p.C891Y	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.C829Y			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	891						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						AATGCGGAGGCATTCGGAAGT	0.592																																						.											0													116	89	98					22																	31328607		2203	4300	6503	SO:0001583	missense	22880			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.2672G>A	22.37:g.31328607C>T	ENSP00000380763:p.Cys891Tyr		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.608736|2.608736	0.46527|0.46527	.|.	.|.	ENSG00000133422|ENSG00000133422	ENST00000397641;ENST00000215862|ENST00000445980	T;T|.	0.13307|.	2.61;2.6|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.336528|.	0.32884|.	N|.	0.005525|.	T|T	0.65471|0.65471	0.2694|0.2694	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	P|.	0.44195|.	0.828|.	B|.	0.40782|.	0.34|.	T|T	0.61969|0.61969	-0.6953|-0.6953	10|5	0.51188|.	T|.	0.08|.	.|.	13.5674|13.5674	0.61826|0.61826	0.0:0.9293:0.0:0.0707|0.0:0.9293:0.0:0.0707	.|.	891|.	Q9Y6X9|.	MORC2_HUMAN|.	Y|I	891;829|52	ENSP00000380763:C891Y;ENSP00000215862:C829Y|.	ENSP00000215862:C829Y|.	C|M	-|-	2|3	0|0	MORC2|MORC2	29658607|29658607	0.993000|0.993000	0.37304|0.37304	0.813000|0.813000	0.32504|0.32504	0.013000|0.013000	0.08279|0.08279	3.318000|3.318000	0.51975|0.51975	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	TGC|ATG		0.592	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		T	31328607	C	T	31328607	3	4	43	1	0	0	0	0	1	0	0	0	9702	710	25	4	442	4	MORC2	22	31328607	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	376864	31328607	19975959	1058	4235											
EIF4ENIF1	56478	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	31843508	31843508	+	Missense_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	cagcaaggtcatgtggcaagGccagcccttctaaagctgcc	10	7	11	13	0	2	0	1	0	1	0	2	0	2	0	3	3	4	3	3	3	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31843508G>A	ENST00000397525.1	-	14	2115	c.1892C>T	c.(1891-1893)gCc>gTc	p.A631V	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.A457V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.A631V|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.A607V|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.A286V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	631						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGTGGCAAGGCCAGCCCTTC	0.512																																						.											0													70	64	66					22																	31843508		2203	4300	6503	SO:0001583	missense	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1892C>T	22.37:g.31843508G>A	ENSP00000380659:p.Ala631Val		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034959	0.54896	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.17	4.01	0.46588	.	0.388525	0.28908	N	0.013746	T	0.37320	0.0999	L	0.34521	1.04	0.27305	N	0.957477	B;B;B;B	0.27910	0.193;0.193;0.161;0.085	B;B;B;B	0.31614	0.129;0.129;0.079;0.133	T	0.21586	-1.0241	9	0.34782	T	0.22	-5.9143	12.3657	0.55226	0.0:0.1258:0.7445:0.1297	.	457;631;456;607	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	V	457;631;631;607;286;188	.	ENSP00000328103:A631V	A	-	2	0	EIF4ENIF1	30173508	0.844000	0.29557	0.978000	0.43139	0.805000	0.45488	3.314000	0.51943	2.941000	0.99782	0.655000	0.94253	GCC		0.512	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		A	31843508	G	A	31843508	3	1	43	1	0	0	0	0	1	0	0	0	5035	1203	42	3	1089	3	EIF4ENIF1	22	31843508	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	514901	31843508	19461058	1059	4236											
EIF4ENIF1	56478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	31851930	31851930	+	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	tagagaaccacctactgaacCgactggcagagactgaccct	13	6	9	13	1	0	4	0	2	0	2	0	7	0	4	4	1	3	1	4	1	4	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31851930C>T	ENST00000397525.1	-	8	1230	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R173Q|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R336Q|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R336Q|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R15Q	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	336						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R336Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTACTGAACCGACTGGCAGA	0.433											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											1	Substitution - Missense(1)	endometrium(1)											98	90	93					22																	31851930		2203	4300	6503	SO:0001583	missense	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1007G>A	22.37:g.31851930C>T	ENSP00000380659:p.Arg336Gln	828	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526108	0.96431	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;D;D;D	0.85130	0.874;0.986;0.963;0.997	T	0.76124	-0.3074	9	0.45353	T	0.12	-15.0571	17.8153	0.88630	0.0:1.0:0.0:0.0	.	173;336;173;336	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	Q	173;336;336;336;15;336	.	ENSP00000328103:R336Q	R	-	2	0	EIF4ENIF1	30181930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.158000	0.77470	2.885000	0.99019	0.655000	0.94253	CGG		0.433	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		T	31851930	C	T	31851930	3	4	43	1	0	0	0	0	1	0	0	0	5035	652	23	1	2001	1	EIF4ENIF1	22	31851930	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8422	31851930	19452636	1060	4237											
PISD	23761	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	32019743	32019743	+	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	gcaggaggtagtagaggacgGtcaagggccaggagcgcagt	11	4	19	7	2	1	1	1	0	0	1	1	4	1	4	1	6	1	4	1	6	3	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:32019743G>A	ENST00000439502.2	-	4	545				PISD_ENST00000382151.2_Missense_Mutation_p.T49I|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Missense_Mutation_p.T49I|PISD_ENST00000336566.4_Intron|PISD_ENST00000266095.5_Missense_Mutation_p.T49I			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GTAGAGGACGGTCAAGGGCCA	0.672																																						.											0													106	85	92					22																	32019743		2203	4300	6503	SO:0001627	intron_variant	23761				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.322-1872C>T	22.37:g.32019743G>A			B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786977	0.70337	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000451635;ENST00000422020;ENST00000442379;ENST00000431201;ENST00000429683	.	.	.	5.61	4.6	0.57074	.	.	.	.	.	T	0.56790	0.2009	M	0.63843	1.955	0.43187	D	0.995015	B;P	0.37276	0.139;0.589	B;B	0.38378	0.039;0.272	T	0.60944	-0.7162	8	0.56958	D	0.05	.	13.5452	0.61699	0.0747:0.0:0.9253:0.0	.	49;49	B1AKM6;Q9UG56-2	.;.	I	49	.	ENSP00000266095:T49I	T	-	2	0	PISD	30349743	1.000000	0.71417	0.881000	0.34555	0.988000	0.76386	6.289000	0.72696	1.370000	0.46153	0.591000	0.81541	ACC		0.672	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			A	32019743	G	A	32019743	1	1	43	0	1	0	0	0	0	0	0	0	11946	1261	44	3		3	PISD	22	32019743	Intron	SNP	G	TCGA-KN-8428-01A-11D-2310-10	167813	32019743	19284823	1061	4238											
RFPL2	10739	broad.mit.edu;bcgsc.ca	37	chr22	32587274	32587274	+	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	tctgatgcgcccacttcggaCgctcctgaggtcgtcagaaa	8	9	11	13	4	2	3	1	2	1	1	5	4	3	4	2	2	1	1	2	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:32587274C>T	ENST00000400237.1	-	5	1557	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	RFPL2_ENST00000248983.4_Missense_Mutation_p.V118I|RFPL2_ENST00000248980.4_Missense_Mutation_p.V147I|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.V118I			O75678	RFPL2_HUMAN	ret finger protein-like 2	208	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CCACTTCGGACGCTCCTGAGG	0.527																																						.											0													131	120	123					22																	32587274		2203	4300	6503	SO:0001583	missense	10739			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.622G>A	22.37:g.32587274C>T	ENSP00000383096:p.Val208Ile			Missense_Mutation	SNP	ENST00000400237.1	37	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927680	0.34002	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	0.351	-0.702	0.11265	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.35128	0.0921	M	0.66378	2.025	0.09310	N	1	D;D	0.57257	0.979;0.967	P;P	0.55785	0.784;0.677	T	0.19614	-1.0300	9	0.59425	D	0.04	.	4.8587	0.13571	0.3466:0.6534:0.0:0.0	.	208;147	O75678;O75678-3	RFPL2_HUMAN;.	I	147;118;118;208	ENSP00000248980:V147I;ENSP00000248983:V118I;ENSP00000383095:V118I;ENSP00000383096:V208I	ENSP00000248980:V147I	V	-	1	0	RFPL2	30917274	0.426000	0.25506	0.003000	0.11579	0.003000	0.03518	1.638000	0.37165	-0.726000	0.04895	-0.745000	0.03516	GTC		0.527	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		T	32587274	C	T	32587274	3	4	43	1	0	0	0	0	1	0	0	0	13254	536	19	1	518	1	RFPL2	22	32587274	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	567531	32587274	18717292	1062	4239											
RBM9	23543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	36334942	36334942	+	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	ataacctggagtcagaggctCgttctatgagaaagacaaga	15	8	11	7	1	2	4	1	1	1	4	3	6	2	5	1	2	1	2	1	2	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:36334942C>T	ENST00000438146.2	-	2	189	c.190G>A	c.(190-192)Gag>Aag	p.E64K	RBFOX2_ENST00000359369.4_5'UTR	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	4					dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GTCAGAGGCTCGTTCTATGAG	0.403																																						.											0													83	84	84					22																	36334942		1915	4130	6045	SO:0001583	missense	23543			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"RNA binding motif (RRM) containing"	9906	protein-coding gene	gene with protein product	"hexaribonucleotide binding protein 2"	612149	"RNA binding motif protein 9"	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.190G>A	22.37:g.36334942C>T	ENSP00000413035:p.Glu64Lys		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195731	0.58126	.	.	ENSG00000100320	ENST00000338644;ENST00000438146;ENST00000408983	T;T	0.49139	0.79;1.42	5.22	5.22	0.72569	.	0.000000	0.43416	D	0.000577	T	0.47820	0.1466	N	0.08118	0	0.32323	N	0.562168	D;D	0.65815	0.995;0.995	D;D	0.68192	0.956;0.956	T	0.60342	-0.7282	10	0.87932	D	0	.	14.1472	0.65357	0.0:1.0:0.0:0.0	.	64;64	O43251-6;O43251-8	.;.	K	4;64;16	ENSP00000413035:E64K;ENSP00000386177:E16K	ENSP00000342831:E4K	E	-	1	0	RBFOX2	34664888	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.801000	0.55545	2.717000	0.92951	0.563000	0.77884	GAG		0.403	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			T	36334942	C	T	36334942	3	4	43	1	0	0	0	0	1	0	0	0	13147	893	31	1	1258	1	RBM9	22	36334942	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3747668	36334942	14969624	1063	4240											
PDXP	57026	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	38061706	38061706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatggtgggtgaccgccTggagaccgacatcctctttg	6	11	13	11	2	1	2	0	1	1	1	2	4	2	2	4	3	0	1	4	3	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38061706T>C	ENST00000215904.6	+	2	775	c.719T>C	c.(718-720)cTg>cCg	p.L240P	PDXP_ENST00000403251.1_Missense_Mutation_p.L23P|SH3BP1_ENST00000599616.1_Missense_Mutation_p.L549P	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	240					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGTGACCGCCTGGAGACCGAC	0.642																																						.											0													137	122	127					22																	38061706		2203	4300	6503	SO:0001583	missense	57026			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.719T>C	22.37:g.38061706T>C	ENSP00000215904:p.Leu240Pro		Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744933	0.89663	.	.	ENSG00000241360	ENST00000215904;ENST00000403251	T;T	0.36340	1.26;1.26	5.78	5.78	0.91487	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	.	.	.	.	T	0.62696	0.2449	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67252	-0.5717	9	0.87932	D	0	-7.7132	16.1061	0.81223	0.0:0.0:0.0:1.0	.	240;549	Q96GD0;Q6ZT62	PLPP_HUMAN;.	P	240;23	ENSP00000215904:L240P;ENSP00000385336:L23P	ENSP00000215904:L240P	L	+	2	0	PDXP	36391652	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.955000	0.87856	2.210000	0.71456	0.459000	0.35465	CTG		0.642	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315		C	38061706	T	C	38061706	3	2	43	1	0	0	0	0	1	0	0	0	11698	1580	55	2	725	2	PDXP	22	38061706	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	1726764	38061706	13242860	1064	4241											
TRIOBP	11078	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	38153951	38153951	+	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	tgcctgctggtgaggggccgCgccggggcctgggtgccccc	1	6	19	15	3	0	1	0	1	0	0	0	1	0	1	6	6	3	1	6	6	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38153951C>T	ENST00000406386.3	+	16	6274	c.6019C>T	c.(6019-6021)Cgc>Tgc	p.R2007C	TRIOBP_ENST00000407319.2_Missense_Mutation_p.R294C|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R294C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2007					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGAGGGGCCGCGCCGGGGCCT	0.682																																						.											0													9	11	11					22																	38153951		2090	4132	6222	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6019C>T	22.37:g.38153951C>T	ENSP00000384312:p.Arg2007Cys		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.853008|2.853008	0.51270|0.51270	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000428075|ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	.|T	.|0.24151	.|1.87	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|.	.|.	.|.	.|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.68039	.|0.955;0.945;0.928	T|T	0.29458|0.29458	-1.0011|-1.0011	5|9	.|0.49607	.|T	.|0.09	.|.	10.746|10.746	0.46181|0.46181	0.0:0.7937:0.1333:0.0729|0.0:0.7937:0.1333:0.0729	.|.	.|294;294;2007	.|F8W6V6;F2Z2W0;Q9H2D6	.|.;.;TARA_HUMAN	V|C	247|2007;294;294;253;223	.|ENSP00000384312:R2007C	.|ENSP00000386026:R294C	A|R	+|+	2|1	0|0	TRIOBP|TRIOBP	36483897|36483897	0.954000|0.954000	0.32549|0.32549	0.903000|0.903000	0.35520|0.35520	0.727000|0.727000	0.41649|0.41649	2.030000|2.030000	0.41108|0.41108	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.682	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38153951	C	T	38153951	3	4	43	1	0	0	0	0	1	0	0	0	16550	768	27	1	6260	1	TRIOBP	22	38153951	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	92245	38153951	13150615	1065	4242											
PLA2G6	8398	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	38522429	38522429	+	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	tgaacgctggcttccgggccCgtgagatgtgcatgagatcc	7	9	14	11	3	0	3	0	3	0	2	2	5	2	3	3	2	2	3	3	2	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38522429C>T	ENST00000332509.3	-	10	1559	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R405Q|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R405Q|PLA2G6_ENST00000490473.1_5'UTR	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	459					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)	CTTCCGGGCCCGTGAGATGTG	0.612																																						.											0													115	99	105					22																	38522429		2203	4300	6503	SO:0001583	missense	8398			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.1376G>A	22.37:g.38522429C>T	ENSP00000333142:p.Arg459Gln		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158668	0.57368	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000396860	T;T;T	0.61980	0.08;0.06;0.06	4.7	4.7	0.59300	.	0.186924	0.45606	D	0.000343	T	0.60881	0.2303	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.959	D;B	0.75484	0.986;0.287	T	0.55679	-0.8103	10	0.16896	T	0.51	-32.198	13.0024	0.58683	0.0:1.0:0.0:0.0	.	405;459	O60733-2;O60733	.;PA2G6_HUMAN	Q	459;320;405;405;459	ENSP00000333142:R459Q;ENSP00000335149:R405Q;ENSP00000386100:R405Q	ENSP00000333142:R459Q	R	-	2	0	PLA2G6	36852375	0.996000	0.38824	0.991000	0.47740	0.242000	0.25591	3.576000	0.53878	2.428000	0.82296	0.655000	0.94253	CGG		0.612	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		T	38522429	C	T	38522429	3	4	43	1	0	0	0	0	1	0	0	0	12008	652	23	1	1076	1	PLA2G6	22	38522429	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	368478	38522429	12782137	1066	4243											
PLA2G6	8398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	38536030	38536030	+	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	gccgagtggatggggtagccGttggggcccatgatgttgca	6	9	18	8	2	0	1	0	1	0	0	0	3	0	2	3	5	2	4	3	5	1	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38536030G>A	ENST00000332509.3	-	5	939	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PLA2G6_ENST00000402064.1_Silent_p.N252N|PLA2G6_ENST00000335539.3_Silent_p.N252N	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	252					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)	TGGGGTAGCCGTTGGGGCCCA	0.637																																						.											0													44	44	44					22																	38536030		2203	4300	6503	SO:0001819	synonymous_variant	8398			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.756C>T	22.37:g.38536030G>A			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	G	2.650	-0.282260	0.05642	.	.	ENSG00000184381	ENST00000427453;ENST00000452542	.	.	.	5.69	-5.62	0.02481	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36817	-0.9732	4	.	.	.	-0.0272	3.4062	0.07341	0.3981:0.3313:0.1814:0.0892	.	.	.	.	M	4;83	.	.	T	-	2	0	PLA2G6	36865976	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	-0.887000	0.04152	-1.319000	0.02286	-0.224000	0.12420	ACG		0.637	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		A	38536030	G	A	38536030	2	1	43	1	0	0	0	0	0	0	0	1	12008	1136	40	1		1	PLA2G6	22	38536030	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	13601	38536030	12768536	1067	4244											
KDELR3	11015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	38875685	38875685	+	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	acagtgagaatgacacattcCgcctggagtttcttctggtc	9	12	10	10	1	2	2	0	2	2	1	4	4	3	3	2	2	0	1	2	2	1	3	rs569201267		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38875685C>T	ENST00000216014.4	+	3	452	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	KDELR3_ENST00000409006.3_Missense_Mutation_p.R94C|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	94					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)					TGACACATTCCGCCTGGAGTT	0.443													C|||	1	0.000199681	0	0	5008	,	,		21964	0.001		0	False		,,,				2504	0				Ovarian(11;103 529 24120 28493 32980)	.											0													288	291	290					22																	38875685		2203	4300	6503	SO:0001583	missense	11015			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	ENST00000216014.4:c.280C>T	22.37:g.38875685C>T	ENSP00000216014:p.Arg94Cys		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140095	0.77775	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.29655	1.56;1.56	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.86420	2.815	0.80722	D	1	P;D	0.53462	0.937;0.96	P;P	0.50791	0.633;0.65	T	0.64136	-0.6478	10	0.62326	D	0.03	.	17.7055	0.88308	0.0:1.0:0.0:0.0	.	94;94	O43731;O43731-2	ERD23_HUMAN;.	C	94	ENSP00000216014:R94C;ENSP00000386918:R94C	ENSP00000216014:R94C	R	+	1	0	KDELR3	37205631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.574000	0.53863	2.401000	0.81631	0.655000	0.94253	CGC		0.443	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			T	38875685	C	T	38875685	3	4	43	1	0	0	0	0	1	0	0	0	8121	652	23	1	290	1	KDELR3	22	38875685	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	339655	38875685	12428881	1068	4245											
APOBEC3G	60489	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	39482315	39482315	+	Missense_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	acacggtttccttgaaggccGccatgcagagctgtgcttcc	7	10	11	13	2	0	2	0	1	0	1	2	2	2	2	4	2	3	4	4	2	1	3	rs17000736	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:39482315G>A	ENST00000407997.3	+	6	1124	c.767G>A	c.(766-768)cGc>cAc	p.R256H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R256H	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	256	Necessary for homooligomerization.		R -> H (in dbSNP:rs17000736).		base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CTTGAAGGCCGCCATGCAGAG	0.498													G|||	19	0.00379393	0.0144	0	5008	,	,		17133	0		0	False		,,,				2504	0					.											0								G	HIS/ARG	68,4338		0,68,2135	77	80	79		767	-0.7	0	22	dbSNP_123	79	0,8600		0,0,4300	yes	missense	APOBEC3G	NM_021822.3	29	0,68,6435	AA,AG,GG		0.0,1.5433,0.5228	probably-damaging	256/385	39482315	68,12938	2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.767G>A	22.37:g.39482315G>A	ENSP00000385057:p.Arg256His		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	CCDS13984.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	.	9.142	1.014009	0.19277	0.015433	0.0	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.64803	-0.12;-0.12	1.65	-0.725	0.11174	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.49541	0.1563	L	0.43646	1.37	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48281	-0.9049	9	0.41790	T	0.15	.	4.413	0.11443	0.1617:0.2335:0.6048:0.0	rs17000736;rs17000736	256	Q9HC16	ABC3G_HUMAN	H	256	ENSP00000413376:R256H;ENSP00000385057:R256H	ENSP00000385057:R256H	R	+	2	0	APOBEC3G	37812261	0.968000	0.33430	0.002000	0.10522	0.018000	0.09664	2.037000	0.41174	-0.131000	0.11578	-0.315000	0.08773	CGC		0.498	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		A	39482315	G	A	39482315	3	1	43	1	0	0	0	0	1	0	0	0	794	1087	38	1	789	1	APOBEC3G	22	39482315	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	606630	39482315	11822251	1069	4246											
TNRC6B	23112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	40717184	40717184	+	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	cccagggcactgccctgatcCgatacagcaccaaacaggag	12	4	10	15	1	0	1	0	1	0	0	1	3	1	2	4	2	4	2	4	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:40717184C>T	ENST00000454349.2	+	22	5276	c.5065C>T	c.(5065-5067)Cga>Tga	p.R1689*	TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.R885*|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.R1579*|TNRC6B_ENST00000301923.9_Nonsense_Mutation_p.R885*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1689	RRM.|Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGCCCTGATCCGATACAGCAC	0.522																																						.											0													66	65	65					22																	40717184		2080	4227	6307	SO:0001587	stop_gained	23112			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.5065C>T	22.37:g.40717184C>T	ENSP00000401946:p.Arg1689*		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	46	12.313979	0.99656	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.52	5.52	0.82312	.	0.063647	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1621	19.8022	0.96513	0.0:1.0:0.0:0.0	.	.	.	.	X	885;885;1689;1579;1579	.	ENSP00000306759:R885X	R	+	1	2	TNRC6B	39047130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.839000	0.62810	2.764000	0.94973	0.650000	0.86243	CGA		0.522	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				T	40717184	C	T	40717184	4	4	43	1	0	0	0	0	0	1	0	0	16338	644	23	1	5272	1	TNRC6B	22	40717184	Nonsense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1234869	40717184	10587382	1070	4247											
CENPM	79019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	42341239	42341239	+	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	acgtacttaccacctgtggcGaggaaacacaccttccccaa	12	7	7	15	2	0	0	0	0	0	0	1	2	1	1	5	2	3	1	5	2	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42341239G>A	ENST00000215980.5	-	4	387	c.300C>T	c.(298-300)ctC>ctT	p.L100L	CENPM_ENST00000407253.3_Silent_p.L100L|CENPM_ENST00000404067.1_Silent_p.L66L|CENPM_ENST00000402420.1_Missense_Mutation_p.R95C|CENPM_ENST00000402338.1_Silent_p.L66L	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	100					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CACCTGTGGCGAGGAAACACA	0.602																																						.											0													105	81	89					22																	42341239		2203	4300	6503	SO:0001819	synonymous_variant	79019			BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"chromosome 22 open reading frame 18"	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.300C>T	22.37:g.42341239G>A			A7LM22|B1AHQ9|Q6I9W3	Silent	SNP	ENST00000215980.5	37	CCDS14025.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864539	0.32977	.	.	ENSG00000100162	ENST00000402420	.	.	.	5.71	-11.4	0.00090	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.20489	N	0.999892	.	.	.	.	.	.	T	0.38908	-0.9639	5	0.46703	T	0.11	-11.2713	5.7759	0.18279	0.3699:0.39:0.1722:0.0679	.	.	.	.	C	95	.	ENSP00000384132:R95C	R	-	1	0	CENPM	40671185	0.000000	0.05858	0.009000	0.14445	0.516000	0.34256	-2.795000	0.00764	-2.780000	0.00361	-0.797000	0.03246	CGC		0.602	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		A	42341239	G	A	42341239	2	1	43	1	0	0	0	0	0	0	0	1	3237	1045	37	1		1	CENPM	22	42341239	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1624055	42341239	8963327	1071	4248											
C22orf32	91689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	42475891	42475891	+	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	cgcatggagcggctcaggccGgagcctggtaccgtcgaggt	6	6	17	12	5	1	0	1	0	0	0	2	3	1	2	3	6	3	3	3	6	1	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42475891G>T	ENST00000331479.3	+	1	193	c.119G>T	c.(118-120)cGg>cTg	p.R40L		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	40					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											GGCTCAGGCCGGAGCCTGGTA	0.652																																						.											0													67	70	69					22																	42475891		2203	4300	6503	SO:0001583	missense	91689			BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"chromosome 22 open reading frame 32"	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.119G>T	22.37:g.42475891G>T	ENSP00000327467:p.Arg40Leu		B2R5D1|Q8TAB9	Missense_Mutation	SNP	ENST00000331479.3	37	CCDS14031.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242444	0.58995	.	.	ENSG00000183172	ENST00000331479	T	0.39229	1.09	6.08	-9.13	0.00704	.	1.290520	0.04919	N	0.454658	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.14783	-1.0460	10	0.09338	T	0.73	0.8194	2.0571	0.03583	0.226:0.2377:0.3707:0.1656	.	40	Q9H4I9	CV032_HUMAN	L	40	ENSP00000327467:R40L	ENSP00000327467:R40L	R	+	2	0	C22orf32	40805837	0.004000	0.15560	0.003000	0.11579	0.031000	0.12232	-0.474000	0.06607	-1.272000	0.02427	-1.239000	0.01543	CGG		0.652	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		T	42475891	G	T	42475891	3	4	43	1	0	0	0	0	1	0	0	0	2144	1116	39	5	121	5	C22orf32	22	42475891	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	134652	42475891	8828675	1072	4249											
C22orf32	91689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	42475902	42475902	+	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	gctcaggccggagcctggtaCcgtcgaggtcagtcatcgtt	6	9	14	12	4	3	0	3	0	0	0	5	2	3	1	3	4	2	3	3	4	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42475902C>A	ENST00000331479.3	+	1	204	c.130C>A	c.(130-132)Ccg>Acg	p.P44T		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	44					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											GAGCCTGGTACCGTCGAGGTC	0.647																																						.											0													70	72	71					22																	42475902		2203	4300	6503	SO:0001583	missense	91689			BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"chromosome 22 open reading frame 32"	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.130C>A	22.37:g.42475902C>A	ENSP00000327467:p.Pro44Thr		B2R5D1|Q8TAB9	Missense_Mutation	SNP	ENST00000331479.3	37	CCDS14031.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110148	0.94292	.	.	ENSG00000183172	ENST00000331479	T	0.46063	0.88	6.08	5.07	0.68467	.	0.053286	0.85682	D	0.000000	T	0.59865	0.2225	M	0.66939	2.045	0.58432	D	0.99999	D	0.62365	0.991	P	0.61201	0.885	T	0.63655	-0.6588	10	0.59425	D	0.04	-7.7469	15.0475	0.71838	0.0:0.9316:0.0:0.0684	.	44	Q9H4I9	CV032_HUMAN	T	44	ENSP00000327467:P44T	ENSP00000327467:P44T	P	+	1	0	C22orf32	40805848	0.997000	0.39634	1.000000	0.80357	0.733000	0.41908	2.943000	0.49026	1.591000	0.50007	0.591000	0.81541	CCG		0.647	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		A	42475902	C	A	42475902	3	1	43	1	0	0	0	0	1	0	0	0	2144	507	18	5	132	5	C22orf32	22	42475902	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	11	42475902	8828664	1073	4250											
CYP2D6	1565	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr22	42525053	42525053	+	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	accggagtggttggcgaaggCggcacaaaggcaggcggcct	9	4	18	10	4	0	0	0	0	0	0	0	2	0	1	2	8	0	3	2	8	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42525053C>T	ENST00000360608.5	-	3	601	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A163T	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	163					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)	TTGGCGAAGGCGGCACAAAGG	0.667																																						.											0													12	16	15					22																	42525053		2133	4213	6346	SO:0001583	missense	1565			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.487G>A	22.37:g.42525053C>T	ENSP00000353820:p.Ala163Thr		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	13.04	2.117873	0.37339	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.68765	-0.35;-0.35	3.37	2.35	0.29111	.	0.598136	0.15077	N	0.281880	T	0.64125	0.2570	L	0.53617	1.68	0.42544	D	0.993086	D	0.67145	0.996	P	0.47864	0.559	T	0.65261	-0.6211	10	0.56958	D	0.05	.	8.8621	0.35265	0.0:0.8829:0.0:0.1171	.	163	Q6NWU0	.	T	163;163;112	ENSP00000353820:A163T;ENSP00000374620:A163T	ENSP00000353820:A163T	A	-	1	0	CYP2D6	40854997	0.998000	0.40836	0.840000	0.33206	0.020000	0.10135	4.220000	0.58567	0.987000	0.38709	0.305000	0.20034	GCC		0.667	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			T	42525053	C	T	42525053	3	4	43	1	0	0	0	0	1	0	0	0	4169	768	27	1	1034	1	CYP2D6	22	42525053	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	49151	42525053	8779513	1074	4251											
TCF20	6942	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	42607545	42607545	+	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	gagagataaaagaacgaacaCgcctcctcatgattaagggg	16	6	11	8	2	1	3	1	1	0	2	2	6	2	3	2	2	2	0	2	2	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42607545C>T	ENST00000359486.3	-	1	3903	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.R1256H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1256					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						AGAACGAACACGCCTCCTCAT	0.453																																						.											0													146	134	138					22																	42607545		2203	4300	6503	SO:0001583	missense	6942			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.3767G>A	22.37:g.42607545C>T	ENSP00000352463:p.Arg1256His		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985812	0.74589	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.73575	-0.76;-0.75	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	D	0.84092	0.5396	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.84556	0.0647	10	0.87932	D	0	-15.6878	19.6556	0.95837	0.0:1.0:0.0:0.0	.	1256;1256	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	H	1256	ENSP00000352463:R1256H;ENSP00000335561:R1256H	ENSP00000335561:R1256H	R	-	2	0	TCF20	40937489	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.065000	0.76727	2.882000	0.98803	0.655000	0.94253	CGT		0.453	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		T	42607545	C	T	42607545	3	4	43	1	0	0	0	0	1	0	0	0	15687	536	19	1	2153	1	TCF20	22	42607545	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	82492	42607545	8697021	1075	4252											
POLDIP3	84271	broad.mit.edu	37	chr22	42987962	42987962	+	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	tgctttctccctaacttaccGtccagacaccggttgttgta	7	14	7	13	2	1	1	0	0	1	1	3	1	2	1	4	1	3	4	4	1	3	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42987962G>A	ENST00000252115.5	-	7	1124	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	POLDIP3_ENST00000451060.2_Splice_Site_p.D184D|POLDIP3_ENST00000348657.2_Splice_Site_p.D311D|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	340	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTAACTTACCGTCCAGACACC	0.542																																					Ovarian(52;967 1128 5875 19997 42537)	.											0													238	191	207					22																	42987962		2203	4300	6503	SO:0001630	splice_region_variant	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.1021+1C>T	22.37:g.42987962G>A			A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	CCDS14038.1																																																																																				0.542	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311	Silent	A	42987962	G	A	42987962	5	1	43	1	0	0	0	0	0	0	1	0	12195	1159	40	1	257	1	POLDIP3	22	42987962	Splice_Site	SNP	G	TCGA-KN-8428-01A-11D-2310-10	380417	42987962	8316604	1076	4253											
ARFGAP3	26286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	43236982	43236982	+	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	tcctccgacttgcatgcatcGcaactgaaaccatgaccagt	11	9	7	14	2	0	2	0	2	0	0	3	3	2	2	4	0	4	3	4	0	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:43236982G>A	ENST00000263245.5	-	3	448	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ARFGAP3_ENST00000437119.2_Nonsense_Mutation_p.R77*|ARFGAP3_ENST00000429508.2_Nonsense_Mutation_p.R77*	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	77	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGCATGCATCGCAACTGAAAC	0.353																																					GBM(58;544 1030 21460 27159 48838)	.											0													92	80	84					22																	43236982		2203	4300	6503	SO:0001587	stop_gained	26286			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.229C>T	22.37:g.43236982G>A	ENSP00000263245:p.Arg77*		E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Nonsense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.700696	0.88924	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119;ENST00000454099;ENST00000435208	.	.	.	5.22	2.97	0.34412	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2764	0.49170	0.0:0.0:0.3933:0.6066	.	.	.	.	X	77;77;77;77;55	.	ENSP00000263245:R77X	R	-	1	2	ARFGAP3	41566926	1.000000	0.71417	0.757000	0.31301	0.901000	0.52897	3.349000	0.52217	1.149000	0.42402	0.580000	0.79431	CGA		0.353	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		A	43236982	G	A	43236982	4	1	43	1	0	0	0	0	0	1	0	0	851	1095	38	1	1377	1	ARFGAP3	22	43236982	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	249020	43236982	8067584	1077	4254											
TSPO	706	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	43558971	43558971	+	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	ggcgggacaaccatggctggCgtgggggacggcggctgcca	6	4	20	11	4	0	0	0	0	0	0	0	2	0	2	2	8	2	2	2	8	1	0	rs41371752	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:43558971C>T	ENST00000396265.3	+	3	378	c.203C>T	c.(202-204)gCg>gTg	p.A68V	TSPO_ENST00000583777.1_Missense_Mutation_p.R58C|TSPO_ENST00000329563.4_Missense_Mutation_p.R162C|TSPO_ENST00000337554.3_Missense_Mutation_p.R162C			B1AH88	TSPOB_HUMAN	translocator protein (18kDa)	68					adrenal gland development (GO:0030325)|aging (GO:0007568)|behavioral response to pain (GO:0048266)|cellular hypotonic response (GO:0071476)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to zinc ion (GO:0071294)|chloride transport (GO:0006821)|contact inhibition (GO:0060242)|glial cell migration (GO:0008347)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of steroid biosynthetic process (GO:0050810)|response to drug (GO:0042493)|response to manganese ion (GO:0010042)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to vitamin B1 (GO:0010266)|steroid biosynthetic process (GO:0006694)	mitochondrial outer membrane (GO:0005741)	androgen binding (GO:0005497)|benzodiazepine receptor activity (GO:0008503)			endometrium(1)|prostate(1)	2		Ovarian(80;0.0694)				CCATGGCTGGCGTGGGGGACG	0.677																																						.											0													27	21	23					22																	43558971		2189	4284	6473	SO:0001583	missense	706			AF075589	CCDS33661.1	22q13.3	2006-07-12	2006-07-12	2006-07-12	ENSG00000100300	ENSG00000100300			1158	protein-coding gene	gene with protein product	"peripheral-type benzodiazepine receptor/recognition site"	109610	"benzodiazapine receptor (peripheral)"	BZRP		1326278, 1847678, 16822554	Standard	NM_000714		Approved	PBR, MBR, PKBS, mDRC, DBI, IBP, pk18	uc003bdo.4	B1AH88	OTTHUMG00000150573	ENST00000396265.3:c.203C>T	22.37:g.43558971C>T	ENSP00000379563:p.Ala68Val		Q13849|Q6IAZ7	Missense_Mutation	SNP	ENST00000396265.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.92|14.92	2.678935|2.678935	0.47886|0.47886	.|.	.|.	ENSG00000100300|ENSG00000100300	ENST00000396265|ENST00000337554;ENST00000329563	T|T;T	0.54479|0.24538	0.57|1.85;1.85	4.38|4.38	3.35|3.35	0.38373|0.38373	.|.	.|0.339156	.|0.29192	.|N	.|0.012880	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	D|D	0.71674|0.65815	0.998|0.995	P|P	0.59948|0.46339	0.866|0.513	T|T	0.11518|0.11518	-1.0584|-1.0584	9|10	0.87932|0.59425	D|D	0|0.04	-12.9691|-12.9691	9.6469|9.6469	0.39872|0.39872	0.4008:0.5992:0.0:0.0|0.4008:0.5992:0.0:0.0	.|.	68|162	B1AH88|P30536	TSPOB_HUMAN|TSPOA_HUMAN	V|C	68|162	ENSP00000379563:A68V|ENSP00000338004:R162C;ENSP00000328973:R162C	ENSP00000379563:A68V|ENSP00000328973:R162C	A|R	+|+	2|1	0|0	TSPO|TSPO	41888915|41888915	0.327000|0.327000	0.24678|0.24678	0.029000|0.029000	0.17559|0.17559	0.070000|0.070000	0.16714|0.16714	1.141000|1.141000	0.31528|0.31528	1.156000|1.156000	0.42514|0.42514	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.677	TSPO-201	KNOWN	basic	protein_coding	protein_coding		NM_007311		T	43558971	C	T	43558971	3	4	43	1	0	0	0	0	1	0	0	0	16652	768	27	1	494	1	TSPO	22	43558971	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	321989	43558971	7745595	1078	4255											
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	46806300	46806300	+	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	gacggccacccgtaccttccCgggtgccattgttggcgatg	5	9	13	14	4	0	0	0	0	0	0	1	2	1	0	5	3	2	2	5	3	1	4	rs368495315		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:46806300C>T	ENST00000262738.3	-	7	4927	c.4928G>A	c.(4927-4929)cGg>cAg	p.R1643Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1643	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)		CGTACCTTCCCGGGTGCCATT	0.627																																						.											0								C	GLN/ARG	4,4402	6.2+/-15.9	0,4,2199	92	82	85		4928	-2.2	0.8	22		85	0,8600		0,0,4300	no	missense	CELSR1	NM_014246.1	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging	1643/3015	46806300	4,13002	2203	4300	6503	SO:0001583	missense	9620			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.4928G>A	22.37:g.46806300C>T	ENSP00000262738:p.Arg1643Gln		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384861	0.04966	9.08E-4	0.0	ENSG00000075275	ENST00000262738	D	0.87334	-2.24	4.41	-2.16	0.07080	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.953479	0.08591	N	0.923106	T	0.66056	0.2751	N	0.11201	0.11	0.09310	N	0.999999	P	0.34587	0.458	B	0.28849	0.095	T	0.58059	-0.7703	10	0.23302	T	0.38	.	1.3803	0.02229	0.2552:0.428:0.1032:0.2136	.	1643	Q9NYQ6	CELR1_HUMAN	Q	1643	ENSP00000262738:R1643Q	ENSP00000262738:R1643Q	R	-	2	0	CELSR1	45184964	0.000000	0.05858	0.843000	0.33291	0.036000	0.12997	-0.232000	0.09055	-0.130000	0.11599	-0.710000	0.03640	CGG		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46806300	C	T	46806300	3	4	43	1	0	0	0	0	1	0	0	0	3221	652	23	1	4232	1	CELSR1	22	46806300	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3247329	46806300	4498266	1079	4256											
TBC1D22A	25771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	47189694	47189694	+	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	accccccagcggcgacctccGgctggtgaagtcggtcagtg	6	6	14	15	4	1	1	1	1	0	0	3	2	2	1	5	4	1	1	5	4	1	0	rs535972526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:47189694G>A	ENST00000337137.4	+	3	582	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R92Q|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R92Q|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R120Q|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R139Q	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	139							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)		GGCGACCTCCGGCTGGTGAAG	0.667																																						.											0													10	12	11					22																	47189694		2124	4155	6279	SO:0001583	missense	25771			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.416G>A	22.37:g.47189694G>A	ENSP00000336724:p.Arg139Gln		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447214	0.63178	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.44881	1.87;0.91;1.84;1.82;1.92	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.77820	2.39	0.40491	D	0.980544	B;P;D;B	0.54047	0.17;0.765;0.964;0.17	B;B;B;B	0.39068	0.018;0.081;0.289;0.018	T	0.46596	-0.9180	10	0.12430	T	0.62	6.9507	14.2057	0.65732	0.0:0.0:1.0:0.0	.	139;120;139;139	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	Q	139;92;139;120;92	ENSP00000336724:R139Q;ENSP00000370383:R92Q;ENSP00000384036:R139Q;ENSP00000347932:R120Q;ENSP00000385634:R92Q	ENSP00000336724:R139Q	R	+	2	0	TBC1D22A	45568358	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.219000	0.72231	2.367000	0.80283	0.511000	0.50034	CGG		0.667	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		A	47189694	G	A	47189694	3	1	43	1	0	0	0	0	1	0	0	0	15608	1116	39	1	426	1	TBC1D22A	22	47189694	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	383394	47189694	4114872	1080	4257											
BRD1	23774	ucsc.edu	37	chr22	50217223	50217223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcggggatgtagggcAccccgtagcactcctggtgc	5	7	15	14	2	0	0	0	0	0	0	2	1	1	1	4	5	2	4	4	5	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50217223A>G	ENST00000216267.8	-	1	1229	c.743T>C	c.(742-744)gTg>gCg	p.V248A	BRD1_ENST00000457780.2_Missense_Mutation_p.V248A|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.V248A|BRD1_ENST00000404760.1_Missense_Mutation_p.V248A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	248					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)		GATGTAGGGCACCCCGTAGCA	0.662																																						.											0													35	31	32					22																	50217223		2203	4300	6503	SO:0001583	missense	23774			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.743T>C	22.37:g.50217223A>G	ENSP00000216267:p.Val248Ala		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334999	0.81801	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.0	5.0	0.66597	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);	0.000000	0.85682	D	0.000000	D	0.93697	0.7986	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.94314	0.7548	9	.	.	.	.	14.7	0.69150	1.0:0.0:0.0:0.0	.	248;248;248	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	A	248	ENSP00000216267:V248A;ENSP00000384076:V248A;ENSP00000385858:V248A;ENSP00000410042:V248A	.	V	-	2	0	BRD1	48603227	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.769000	0.91742	1.882000	0.54519	0.383000	0.25322	GTG		0.662	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		G	50217223	A	G	50217223	3	3	43	1	0	0	0	0	1	0	0	0	1501	159	6	2	2481	2	BRD1	22	50217223	Missense_Mutation	SNP	A	TCGA-KN-8428-01A-11D-2310-10	3027529	50217223	1087343	1081	4258											
PANX2	56666	broad.mit.edu	37	chr22	50617544	50617544	+	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	agccgaaacgccacacacccGctgctgcacatcaacacgct	12	4	7	18	4	1	0	1	0	0	0	1	1	1	0	3	0	5	4	3	0	2	0	rs114447696	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50617544G>A	ENST00000395842.2	+	3	1872	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P	PANX2_ENST00000159647.5_Silent_p.P624P	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	624					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)		CCACACACCCGCTGCTGCACA	0.716													G|||	4	0.000798722	0	0	5008	,	,		14056	0.003		0	False		,,,				2504	0.001					.											0													43	40	41					22																	50617544		2197	4298	6495	SO:0001819	synonymous_variant	56666				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.1872G>A	22.37:g.50617544G>A			B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	CCDS14085.2																																																																																				0.716	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		A	50617544	G	A	50617544	2	1	43	1	0	0	0	0	0	0	0	1	11421	1074	38	1		1	PANX2	22	50617544	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	400321	50617544	687022	1082	4259											
TUBGCP6	85378	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	50664592	50664592	+	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	cacctctttggagatgagcaCgtagccatgtgtccagtaca	10	10	10	11	1	1	2	0	1	1	1	2	3	2	2	3	1	3	3	3	1	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50664592C>T	ENST00000248846.5	-	9	1824	c.1720G>A	c.(1720-1722)Gtg>Atg	p.V574M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V574M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	574					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)		GAGATGAGCACGTAGCCATGT	0.557																																						.											0													241	225	231					22																	50664592		2203	4300	6503	SO:0001583	missense	85378			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.1720G>A	22.37:g.50664592C>T	ENSP00000248846:p.Val574Met		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343671	0.61073	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08458	3.09;3.09	5.04	4.01	0.46588	.	0.292321	0.33290	N	0.005065	T	0.11623	0.0283	L	0.59436	1.845	0.36269	D	0.855028	P;D	0.54207	0.929;0.965	B;B	0.42995	0.329;0.404	T	0.19712	-1.0297	10	0.45353	T	0.12	.	13.7035	0.62624	0.0:0.9239:0.0:0.0761	.	574;574	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	574	ENSP00000248846:V574M;ENSP00000397387:V574M	ENSP00000248846:V574M	V	-	1	0	TUBGCP6	49006719	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	2.274000	0.43390	1.109000	0.41680	0.462000	0.41574	GTG		0.557	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		T	50664592	C	T	50664592	3	4	43	1	0	0	0	0	1	0	0	0	16767	536	19	1	3807	1	TUBGCP6	22	50664592	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	47048	50664592	639974	1083	4260											
PLXNB2	23654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	50720400	50720400	+	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	ctgagcagggcacggtgcccGtccatctcgatcagcaccgt	7	7	12	15	4	2	1	1	1	1	0	4	2	3	1	3	2	3	3	3	2	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50720400G>A	ENST00000449103.1	-	20	3368	c.3228C>T	c.(3226-3228)gaC>gaT	p.D1076D	PLXNB2_ENST00000359337.4_Silent_p.D1076D|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1076	IPT/TIG 3.				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)		CACGGTGCCCGTCCATCTCGA	0.597																																						.											0													54	60	58					22																	50720400		2083	4193	6276	SO:0001819	synonymous_variant	23654				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.3228C>T	22.37:g.50720400G>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803093	0.16397	.	.	ENSG00000196576	ENST00000427829	.	.	.	4.63	-2.52	0.06346	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54682	-0.8257	4	.	.	.	.	10.9952	0.47571	0.6569:0.0:0.3431:0.0	.	.	.	.	M	94	.	.	T	-	2	0	PLXNB2	49062527	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	0.683000	0.25349	-0.211000	0.10124	0.313000	0.20887	ACG		0.597	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50720400	G	A	50720400	2	1	43	1	0	0	0	0	0	0	0	1	12124	1136	40	1		1	PLXNB2	22	50720400	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	55808	50720400	584166	1084	4261											
PLXNB2	23654	hgsc.bcm.edu	37	chr22	50726135	50726135	+	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	ctcatgttctgtggctgggcGctggtgacggccacgcagga	5	9	16	11	3	2	1	1	1	1	0	2	2	2	2	1	5	0	4	1	5	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50726135G>A	ENST00000449103.1	-	7	1709	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	PLXNB2_ENST00000359337.4_Silent_p.S523S|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	523					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)		GTGGCTGGGCGCTGGTGACGG	0.746																																						.											0													3	4	4					22																	50726135		1668	3672	5340	SO:0001819	synonymous_variant	23654				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.1569C>T	22.37:g.50726135G>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																				0.746	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50726135	G	A	50726135	2	1	43	1	0	0	0	0	0	0	0	1	12124	1078	38	1		1	PLXNB2	22	50726135	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5735	50726135	578431	1085	4262											
ARSA	410	broad.mit.edu	37	chr22	51064679	51064679	+	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	cgcaagagaccggagcagccGcctcgggacatacgcatggt	10	4	14	13	5	0	1	0	0	0	1	1	4	0	3	3	3	3	3	3	3	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:51064679G>A	ENST00000547307.1	-	5	1281	c.876C>T	c.(874-876)ggC>ggT	p.G292G	ARSA_ENST00000356098.5_Silent_p.G294G|ARSA_ENST00000395619.3_Silent_p.G294G|ARSA_ENST00000547805.1_Silent_p.G292G|ARSA_ENST00000395621.3_Silent_p.G294G|ARSA_ENST00000453344.2_Silent_p.G208G|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000216124.5_Silent_p.G294G			P15289	ARSA_HUMAN	arylsulfatase A	292					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|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)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CGGAGCAGCCGCCTCGGGACA	0.652																																						.											0													48	44	45					22																	51064679		2203	4300	6503	SO:0001819	synonymous_variant	410			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.876C>T	22.37:g.51064679G>A			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	37																																																																																					0.652	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		A	51064679	G	A	51064679	2	1	43	1	0	0	0	0	0	0	0	1	987	1074	38	1		1	ARSA	22	51064679	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	338544	51064679	239887	1086	4263											
SHANK3	85358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr22	51117231	51117231	+	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	ctcgcagcccagctggacaaCgccacggacctgctaaaggt	10	5	11	15	3	0	0	0	0	0	0	1	2	0	2	3	3	4	3	3	3	3	1	rs79762996	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:51117231C>T	ENST00000414786.2	+	5	710	c.483C>T	c.(481-483)aaC>aaT	p.N161N	SHANK3_ENST00000262795.3_Silent_p.N161N|SHANK3_ENST00000445220.2_Silent_p.N161N			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	161					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)		AGCTGGACAACGCCACGGACC	0.652													C|||	16	0.00319489	0	0.0014	5008	,	,		19825	0.0149		0	False		,,,				2504	0					.											0													42	46	45					22																	51117231		2155	4252	6407	SO:0001819	synonymous_variant	85358			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.483C>T	22.37:g.51117231C>T			D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37																																																																																					0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51117231	C	T	51117231	2	4	43	1	0	0	0	0	0	0	0	1	14266	535	19	1		1	SHANK3	22	51117231	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	52552	51117231	187335	1087	4264											
SLC25A6	293	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	1506261	1506261	+	Missense_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	ccacggccgtcacggtctgcGcgatcatccagctcaccacg	7	6	10	18	6	4	0	3	0	1	0	5	1	5	0	4	2	2	1	4	2	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:1506261G>A	ENST00000381401.5	-	3	1364	c.650C>T	c.(649-651)gCg>gTg	p.A217V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	217					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CACGGTCTGCGCGATCATCCA	0.692																																						.											0													114	98	104					X																	1506261		2203	4296	6499	SO:0001583	missense	293			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.650C>T	X.37:g.1506261G>A	ENSP00000370808:p.Ala217Val		Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.252145	0.80135	.	.	ENSG00000169100	ENST00000381401	T	0.80566	-1.39	1.87	1.87	0.25490	Mitochondrial carrier domain (2);	0.000000	0.53938	U	0.000046	D	0.90184	0.6932	H	0.99444	4.57	0.09310	N	1	D	0.76494	0.999	P	0.48921	0.595	D	0.84987	0.0892	10	0.87932	D	0	.	12.0724	0.53624	0.0:0.0:1.0:0.0	.	217	P12236	ADT3_HUMAN	V	217	ENSP00000370808:A217V	ENSP00000370808:A217V	A	-	2	0	SLC25A6	1466261	1.000000	0.71417	0.650000	0.29550	0.657000	0.38888	7.381000	0.79718	0.987000	0.38709	0.409000	0.27619	GCG		0.692	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		A	1506261	G	A	1506261	3	1	43	1	0	0	0	0	1	0	0	0	14513	1087	38	1	254	1	SLC25A6	23	1506261	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10		1506261	153764299	1088	4265											
ARSH	347527	broad.mit.edu	37	chrX	2933300	2933300	+	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	gcctttctgtttttcacttcCtggtactctagttatggatt	5	20	7	9	0	3	0	1	0	2	0	4	1	4	1	2	2	1	3	2	2	3	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	210					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTTCACTTCCTGGTACTCTA	0.453																																						.											0													189	126	148					X																	2933300		2203	4300	6503	SO:0001819	synonymous_variant	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.630C>A	X.37:g.2933300C>A				Silent	SNP	ENST00000381130.2	37	CCDS35198.1																																																																																				0.453	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		A	2933300	C	A	2933300	2	1	43	1	0	0	0	0	0	0	0	1	993	668	24	5		5	ARSH	23	2933300	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	1427039	2933300	152337260	1089	4266											
NLGN4X	57502	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	5827148	5827148	+	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	cacaggaggccccagcccccGagccaaagatggtcactctc	10	4	10	17	1	2	1	1	0	1	1	3	3	2	2	5	3	2	0	5	3	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:5827148G>A	ENST00000381095.3	-	4	1385	c.758C>T	c.(757-759)tCg>tTg	p.S253L	NLGN4X_ENST00000381092.1_Missense_Mutation_p.S253L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.S253L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.S253L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.S273L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	253					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCCAGCCCCCGAGCCAAAGAT	0.587																																						.											0													68	63	65					X																	5827148		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.758C>T	X.37:g.5827148G>A	ENSP00000370485:p.Ser253Leu		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300364	0.60195	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	3.48	3.48	0.39840	Carboxylesterase, type B (1);	.	.	.	.	T	0.75620	0.3874	L	0.47716	1.5	0.58432	D	0.999998	D;D;D	0.89917	0.981;1.0;0.998	P;D;P	0.83275	0.698;0.996;0.774	T	0.78237	-0.2282	9	0.66056	D	0.02	.	13.8719	0.63624	0.0:0.0:1.0:0.0	.	310;253;273	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	253;273;253;253;253	ENSP00000370485:S253L;ENSP00000370483:S273L;ENSP00000275857:S253L;ENSP00000370482:S253L;ENSP00000439203:S253L	ENSP00000275857:S253L	S	-	2	0	NLGN4X	5837148	1.000000	0.71417	0.648000	0.29521	0.217000	0.24651	8.345000	0.90057	1.508000	0.48769	0.600000	0.82982	TCG		0.587	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		A	5827148	G	A	5827148	3	1	43	1	0	0	0	0	1	0	0	0	10464	1059	37	1	1704	1	NLGN4X	23	5827148	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	2893848	5827148	149443412	1090	4267											
ATXN3L	92552	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	13337345	13337345	+	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	ttctctattggtttcttggcGgcttagttcaagggccctct	4	17	10	10	1	4	0	1	0	3	0	5	0	4	0	1	4	0	3	1	4	3	7			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:13337345G>A	ENST00000380622.2	-	1	1173	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	237					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTTCTTGGCGGCTTAGTTCA	0.423																																						.											0													277	251	259					X																	13337345		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.709C>T	X.37:g.13337345G>A	ENSP00000369996:p.Arg237Cys		B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	g	8.243	0.807365	0.16467	.	.	ENSG00000123594	ENST00000380622	T	0.21031	2.03	0.793	0.793	0.18632	Ubiquitin interacting motif (3);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.47190	1.495	0.58432	D	0.999997	P	0.47545	0.897	B	0.43701	0.428	T	0.03524	-1.1028	10	0.87932	D	0	.	3.7528	0.08573	0.0:1.0E-4:0.5717:0.4282	.	237	Q9H3M9	ATX3L_HUMAN	C	237	ENSP00000369996:R237C	ENSP00000369996:R237C	R	-	1	0	ATXN3L	13247266	0.829000	0.29322	0.002000	0.10522	0.004000	0.04260	0.433000	0.21477	0.661000	0.30985	0.417000	0.27973	CGC		0.423	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		A	13337345	G	A	13337345	3	1	43	1	0	0	0	0	1	0	0	0	1214	1116	39	1	362	1	ATXN3L	23	13337345	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7510197	13337345	141933215	1091	4268											
KLHL34	257240	hgsc.bcm.edu	37	chrX	21675168	21675168	+	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	gatgatgaggcccttgacccGggcgggcagcacgaggccag	8	4	17	12	3	0	3	0	3	0	0	0	5	0	3	3	4	1	2	3	4	0	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:21675168G>A	ENST00000379499.2	-	1	1280	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	247						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCTTGACCCGGGCGGGCAGC	0.682																																						.											0													18	19	18					X																	21675168		2198	4293	6491	SO:0001583	missense	257240			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.739C>T	X.37:g.21675168G>A	ENSP00000368813:p.Arg247Trp			Missense_Mutation	SNP	ENST00000379499.2	37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476305	0.26511	.	.	ENSG00000185915	ENST00000379499	T	0.73258	-0.73	4.65	3.76	0.43208	.	0.431057	0.22852	N	0.054854	T	0.59932	0.2230	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	P	0.52672	0.706	T	0.55673	-0.8104	10	0.72032	D	0.01	.	1.0565	0.01591	0.1687:0.1555:0.3336:0.3422	.	247	Q8N239	KLH34_HUMAN	W	247	ENSP00000368813:R247W	ENSP00000368813:R247W	R	-	1	2	KLHL34	21585089	0.000000	0.05858	0.118000	0.21660	0.405000	0.30901	0.188000	0.17018	0.909000	0.36697	0.422000	0.28245	CGG		0.682	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		A	21675168	G	A	21675168	3	1	43	1	0	0	0	0	1	0	0	0	8387	1115	39	1	1199	1	KLHL34	23	21675168	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8337823	21675168	133595392	1092	4269											
CXorf22	170063	mdanderson.org;bcgsc.ca	37	chrX	35944236	35944236	+	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	aagacgaagacacttttgacCggctacttatttcaatagaa	15	11	7	8	2	1	4	1	1	0	3	1	5	1	4	1	1	1	1	1	1	7	6	rs368440669		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:35944236C>T	ENST00000297866.5	+	2	418	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	118										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CACTTTTGACCGGCTACTTAT	0.348																																						.											0													61	57	58					X																	35944236		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.352C>T	X.37:g.35944236C>T	ENSP00000297866:p.Arg118Trp		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538677	0.27475	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	4.73	2.49	0.30216	.	0.493349	0.22804	N	0.055437	T	0.23492	0.0568	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.56700	0.804	T	0.03784	-1.1004	10	0.51188	T	0.08	-6.9226	5.4006	0.16293	0.3062:0.5041:0.1897:0.0	.	118	Q6ZTR5	CX022_HUMAN	W	118	ENSP00000297866:R118W	ENSP00000297866:R118W	R	+	1	2	CXorf22	35854157	0.000000	0.05858	0.015000	0.15790	0.006000	0.05464	0.120000	0.15647	0.851000	0.35264	0.529000	0.55759	CGG		0.348	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		T	35944236	C	T	35944236	3	4	43	1	0	0	0	0	1	0	0	0	4102	643	23	1	358	1	CXorf22	23	35944236	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	14269068	35944236	119326324	1093	4270											
FAM47C	442444	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	37028375	37028375	+	Missense_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	gactggagtgtcccatctccGcccagagcctcccaagactc	8	7	9	17	1	1	2	0	0	1	2	5	4	3	3	5	1	1	0	5	1	1	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:37028375G>A	ENST00000358047.3	+	1	1944	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	631										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						TCCCATCTCCGCCCAGAGCCT	0.637																																						.											0													30	35	33					X																	37028375		2147	4213	6360	SO:0001583	missense	442444			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.1892G>A	X.37:g.37028375G>A	ENSP00000367913:p.Arg631His		Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	10.60	1.394681	0.25205	.	.	ENSG00000198173	ENST00000358047	T	0.15834	2.39	1.67	-3.33	0.04958	.	.	.	.	.	T	0.07098	0.0180	N	0.10685	0.025	0.09310	N	1	P	0.37781	0.608	B	0.37387	0.248	T	0.29792	-1.0000	9	0.39692	T	0.17	.	5.1076	0.14793	0.1894:0.5823:0.2283:0.0	.	631	Q5HY64	FA47C_HUMAN	H	631	ENSP00000367913:R631H	ENSP00000367913:R631H	R	+	2	0	FAM47C	36938296	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.462000	0.00997	-0.572000	0.06006	0.414000	0.27820	CGC		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028375	G	A	37028375	3	1	43	1	0	0	0	0	1	0	0	0	5571	1087	38	1	1894	1	FAM47C	23	37028375	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1084139	37028375	118242185	1094	4271											
CCDC22	28952	broad.mit.edu;mdanderson.org	37	chrX	49106626	49106626	+	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	cagatcgagacagagctgggCaagaagaccctcagcaacct	14	4	11	12	1	1	5	1	0	0	5	2	6	1	5	2	1	3	3	2	1	3	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:49106626C>T	ENST00000376227.3	+	17	1958	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	596										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CAGAGCTGGGCAAGAAGACCC	0.637																																						.											0													47	37	40					X																	49106626		2096	4057	6153	SO:0001819	synonymous_variant	28952			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1788C>T	X.37:g.49106626C>T			A8K7G1	Silent	SNP	ENST00000376227.3	37	CCDS14322.1																																																																																				0.637	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		T	49106626	C	T	49106626	2	4	43	1	0	0	0	0	0	0	0	1	2797	697	25	4		4	CCDC22	23	49106626	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	12078251	49106626	106163934	1095	4272											
HUWE1	10075	broad.mit.edu;bcgsc.ca	37	chrX	53615355	53615355	+	Missense_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	atcttacctcaaaaagtagcGttaaaagcaagattctagta	17	11	6	7	1	3	1	1	0	2	1	3	1	3	1	1	0	3	4	1	0	9	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:53615355G>A	ENST00000342160.3	-	36	5058	c.4601C>T	c.(4600-4602)aCg>aTg	p.T1534M	HUWE1_ENST00000218328.8_Missense_Mutation_p.T1534M|HUWE1_ENST00000262854.6_Missense_Mutation_p.T1534M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1534					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						AAAAAGTAGCGTTAAAAGCAA	0.403																																						.											0													96	73	81					X																	53615355		2203	4300	6503	SO:0001583	missense	10075			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.4601C>T	X.37:g.53615355G>A	ENSP00000340648:p.Thr1534Met		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338524	0.81911	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.50277	1.04;1.04;0.75	5.83	5.83	0.93111	Armadillo-like helical (1);	0.119337	0.56097	D	0.000037	T	0.53802	0.1819	L	0.29908	0.895	0.80722	D	1	D;P	0.71674	0.998;0.784	P;B	0.57009	0.811;0.271	T	0.56878	-0.7906	10	0.72032	D	0.01	.	17.7172	0.88341	0.0:0.0:1.0:0.0	.	1534;1534	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	M	1534	ENSP00000340648:T1534M;ENSP00000262854:T1534M;ENSP00000218328:T1534M	ENSP00000218328:T1534M	T	-	2	0	HUWE1	53632080	1.000000	0.71417	0.938000	0.37757	0.939000	0.58152	9.444000	0.97578	2.457000	0.83068	0.600000	0.82982	ACG		0.403	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53615355	G	A	53615355	3	1	43	1	0	0	0	0	1	0	0	0	7461	1145	40	1	8715	1	HUWE1	23	53615355	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	4508729	53615355	101655205	1096	4273											
PHF8	23133	broad.mit.edu;mdanderson.org	37	chrX	54012317	54012317	+	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	agatcaagaatgccaccagcGccactaccattcccaagctt	13	7	6	15	1	1	2	1	0	0	2	2	2	2	2	5	0	4	1	5	0	4	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:54012317G>A	ENST00000357988.5	-	17	2527	c.2169C>T	c.(2167-2169)ggC>ggT	p.G723G	PHF8_ENST00000322659.8_Intron|PHF8_ENST00000338946.6_Silent_p.G586G|PHF8_ENST00000338154.6_Silent_p.G687G	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	723					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCCACCAGCGCCACTACCAT	0.552																																						.											0													299	195	230					X																	54012317		2203	4300	6503	SO:0001819	synonymous_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2169C>T	X.37:g.54012317G>A			B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.449|9.449	1.089971|1.089971	0.20390|0.20390	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000375189|ENST00000443302	.|.	.|.	.|.	5.26|5.26	1.47|1.47	0.22746|0.22746	.|.	.|.	.|.	.|.	.|.	T|T	0.52108|0.52108	0.1714|0.1714	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38090|0.38090	-0.9677|-0.9677	5|4	0.72032|.	D|.	0.01|.	-5.9991|-5.9991	5.6227|5.6227	0.17465|0.17465	0.0:0.1638:0.5054:0.3307|0.0:0.1638:0.5054:0.3307	.|.	.|.	.|.	.|.	V|C	591;163|451	.|.	ENSP00000364335:A163V|.	A|R	-|-	2|1	0|0	PHF8|PHF8	54029042|54029042	0.697000|0.697000	0.27767|0.27767	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	-0.320000|-0.320000	0.08028|0.08028	0.167000|0.167000	0.19631|0.19631	-0.328000|-0.328000	0.08392|0.08392	GCG|CGC		0.552	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		A	54012317	G	A	54012317	2	1	43	1	0	0	0	0	0	0	0	1	11840	1074	38	1		1	PHF8	23	54012317	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	396962	54012317	101258243	1097	4274											
EDA2R	60401	broad.mit.edu	37	chrX	65819457	65819457	+	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	cttttgcaggtccagctctgTgcattcgatggggctgtgga	5	13	14	9	1	1	0	0	0	1	0	3	2	2	1	1	4	3	4	1	4	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:65819457T>G	ENST00000374719.3	-	6	819	c.763A>C	c.(763-765)Aca>Cca	p.T255P	EDA2R_ENST00000456230.2_Missense_Mutation_p.T255P|EDA2R_ENST00000253392.5_Missense_Mutation_p.T276P|EDA2R_ENST00000451436.2_Missense_Mutation_p.T131P|EDA2R_ENST00000450752.1_Missense_Mutation_p.T276P|EDA2R_ENST00000396050.1_Missense_Mutation_p.T255P	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	255					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						TCCAGCTCTGTGCATTCGATG	0.577																																						.											0													47	39	41					X																	65819457		2203	4299	6502	SO:0001583	missense	60401			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.763A>C	X.37:g.65819457T>G	ENSP00000363851:p.Thr255Pro		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527179	0.64860	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.92299	-2.63;-2.63;-3.01;-2.63;-3.01	3.7	3.7	0.42460	.	0.214563	0.22867	U	0.054663	D	0.92244	0.7540	L	0.29908	0.895	0.35532	D	0.802292	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.921	D	0.93696	0.7011	10	0.87932	D	0	-0.5066	9.5549	0.39332	0.0:0.0:0.0:1.0	.	131;276;255	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	P	255;255;131;276;255;276	ENSP00000363851:T255P;ENSP00000379365:T255P;ENSP00000253392:T276P;ENSP00000393935:T255P;ENSP00000402929:T276P	ENSP00000253392:T276P	T	-	1	0	EDA2R	65736182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.914000	0.56401	1.363000	0.46019	0.425000	0.28330	ACA		0.577	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		G	65819457	T	G	65819457	3	3	43	1	0	0	0	0	1	0	0	0	4904	1696	59	5	134	5	EDA2R	23	65819457	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	11807140	65819457	89451103	1098	4275											
KIF4A	24137	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	69595076	69595076	+	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	tgagtgagcgccgccgcaaaCgtctccaggagctggagggt	8	6	16	11	4	1	2	0	2	1	0	2	4	1	4	3	3	3	2	3	3	1	0	rs374256182		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:69595076C>T	ENST00000374403.3	+	17	1883	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R601C	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	601					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)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCGCCGCAAACGTCTCCAGGA	0.473																																						.											0								C	CYS/ARG	1,3834		0,1,0,1631,571	71	61	65		1801	5.5	1	X		65	1,6727		0,0,1,2428,1871	no	missense	KIF4A	NM_012310.4	180	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	benign	601/1233	69595076	2,10561	2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1801C>T	X.37:g.69595076C>T	ENSP00000363524:p.Arg601Cys		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951877	0.53293	2.61E-4	1.49E-4	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.70631	2.25;-0.5	5.53	5.53	0.82687	.	0.102401	0.42821	D	0.000648	T	0.68192	0.2974	L	0.55743	1.74	0.80722	D	1	B;B	0.28713	0.033;0.22	B;B	0.35770	0.013;0.21	T	0.68511	-0.5389	10	0.56958	D	0.05	.	10.7456	0.46179	0.3019:0.6981:0.0:0.0	.	601;601	O95239;O95239-2	KIF4A_HUMAN;.	C	601	ENSP00000363509:R601C;ENSP00000363524:R601C	ENSP00000363509:R601C	R	+	1	0	KIF4A	69511801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.564000	0.45931	2.562000	0.86427	0.600000	0.82982	CGT		0.473	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		T	69595076	C	T	69595076	3	4	43	1	0	0	0	0	1	0	0	0	8303	536	19	1	1863	1	KIF4A	23	69595076	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3775619	69595076	85675484	1099	4276											
TEX11	56159	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	70080718	70080718	+	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	aagacttaccataatcagtcGttgaatactttgttctgagg	12	14	8	7	1	2	3	1	2	1	1	3	3	2	3	1	1	2	2	1	1	5	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:70080718G>A	ENST00000395889.2	-	6	513	c.358C>T	c.(358-360)Cga>Tga	p.R120*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.R120*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.R105*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	120					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.R105R(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATAATCAGTCGTTGAATACTT	0.363																																						.											1	Substitution - coding silent(1)	endometrium(1)											113	86	95					X																	70080718		2203	4300	6503	SO:0001587	stop_gained	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.358C>T	X.37:g.70080718G>A	ENSP00000379226:p.Arg120*		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368975	0.61624	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	.	.	.	4.63	3.47	0.39725	.	0.063218	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.315	7.2818	0.26316	0.0:0.0:0.2363:0.7637	.	.	.	.	X	105;120;120	.	.	R	-	1	2	TEX11	69997443	0.990000	0.36364	0.315000	0.25238	0.035000	0.12851	2.358000	0.44134	0.618000	0.30179	-0.507000	0.04495	CGA		0.363	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	70080718	G	A	70080718	4	1	43	1	0	0	0	0	0	1	0	0	15771	1153	40	1	2568	1	TEX11	23	70080718	Nonsense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	485642	70080718	85189842	1100	4277											
GJB1	2705	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	70443744	70443744	+	Missense_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	tccagcctggctgcaacagcGtttgctatgaccaattcttc	8	12	8	13	1	1	1	0	1	1	0	3	1	2	1	3	1	5	4	3	1	3	4	rs116840818		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:70443744G>A	ENST00000374022.3	+	2	282	c.187G>A	c.(187-189)Gtt>Att	p.V63I	GJB1_ENST00000361726.6_Missense_Mutation_p.V63I|GJB1_ENST00000374029.1_Missense_Mutation_p.V63I	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	63			V -> I (in CMTX1; can be associated with Gln-22). {ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9633821}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CTGCAACAGCGTTTGCTATGA	0.557																																						.											0			GRCh37	CM940832	GJB1	M	rs116840818						107	74	85					X																	70443744		2203	4300	6503	SO:0001583	missense	2705			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"Ion channels / Gap junction proteins (connexins)"	4283	protein-coding gene	gene with protein product	"Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32"	304040	"gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32)"	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.187G>A	X.37:g.70443744G>A	ENSP00000363134:p.Val63Ile		B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	ENST00000374022.3	37	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529886	0.27387	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000447581;ENST00000361726	D;D;D;D	0.99405	-5.84;-5.84;-5.84;-5.84	4.56	3.68	0.42216	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98789	1.0735	10	0.87932	D	0	.	13.3254	0.60457	0.0:0.0:0.841:0.159	.	63	P08034	CXB1_HUMAN	I	63	ENSP00000363141:V63I;ENSP00000363134:V63I;ENSP00000407223:V63I;ENSP00000354900:V63I	ENSP00000354900:V63I	V	+	1	0	GJB1	70360469	1.000000	0.71417	0.040000	0.18447	0.004000	0.04260	9.654000	0.98509	0.925000	0.37094	-0.369000	0.07265	GTT		0.557	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166		A	70443744	G	A	70443744	3	1	43	1	0	0	0	0	1	0	0	0	6407	1145	40	1	189	1	GJB1	23	70443744	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	363026	70443744	84826816	1101	4278											
NHSL2	340527	hgsc.bcm.edu;mdanderson.org	37	chrX	71360545	71360545	+	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	accaagtgtcccgccaccggCgatgacctgcaatcacttgg	9	7	10	15	3	1	1	1	1	0	0	2	2	2	1	5	2	1	1	5	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:71360545C>T	ENST00000373677.1	+	2	3311	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	NHSL2_ENST00000535692.1_Silent_p.G683G|NHSL2_ENST00000510661.1_Silent_p.G818G|NHSL2_ENST00000540800.1_Silent_p.G1049G			Q5HYW2	NHSL2_HUMAN	NHS-like 2	683										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCGCCACCGGCGATGACCTGC	0.557																																						.											0													54	49	51					X																	71360545		2203	4300	6503	SO:0001819	synonymous_variant	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2049C>T	X.37:g.71360545C>T			B2RN94	Silent	SNP	ENST00000373677.1	37																																																																																					0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		T	71360545	C	T	71360545	2	4	43	1	0	0	0	0	0	0	0	1	10412	755	27	1		1	NHSL2	23	71360545	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	916801	71360545	83910015	1102	4279											
ERCC6L	54821	broad.mit.edu	37	chrX	71425000	71425000	+	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	actcttttagttcttttccaCgctttacaagagtctcatag	9	17	5	10	1	3	1	1	0	3	1	5	1	4	1	1	0	1	2	1	0	4	8	rs140225715	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:71425000C>T	ENST00000334463.3	-	2	3752	c.3617G>A	c.(3616-3618)cGt>cAt	p.R1206H	ERCC6L_ENST00000373657.1_Missense_Mutation_p.R1083H|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1206					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)					TTCTTTTCCACGCTTTACAAG	0.458													C|||	1	0.000264901	8e-04	0	3775	,	,		13090	0		0	False		,,,				2504	0					.											0								C	,HIS/ARG	8,3827		0,7,1,1625,570	91	78	83		,3617	2.8	0.2	X	dbSNP_134	83	0,6728		0,0,0,2428,1872	yes	intron,missense	PIN4,ERCC6L	NM_001170747.1,NM_017669.2	,29	0,7,1,4053,2442	TT,TC,T,CC,C		0.0,0.2086,0.0757	,benign	,1206/1251	71425000	8,10555	2203	4300	6503	SO:0001583	missense	54821			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.3617G>A	X.37:g.71425000C>T	ENSP00000334675:p.Arg1206His		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650356	0.29336	0.002086	0.0	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.76578	-1.03;-1.03	5.49	2.8	0.32819	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.67373	0.2886	L	0.38531	1.155	0.09310	N	1	B	0.16802	0.019	B	0.10450	0.005	T	0.55667	-0.8105	9	0.48119	T	0.1	-0.5306	8.781	0.34792	0.0:0.7424:0.0:0.2576	.	1206	Q2NKX8	ERC6L_HUMAN	H	1083;1206	ENSP00000362761:R1083H;ENSP00000334675:R1206H	ENSP00000334675:R1206H	R	-	2	0	ERCC6L	71341725	0.010000	0.17322	0.226000	0.23910	0.687000	0.40016	0.450000	0.21762	0.161000	0.19458	-0.269000	0.10298	CGT		0.458	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		T	71425000	C	T	71425000	3	4	43	1	0	0	0	0	1	0	0	0	5218	536	19	1	139	1	ERCC6L	23	71425000	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	64455	71425000	83845560	1103	4280											
SLC16A2	6567	broad.mit.edu;bcgsc.ca	37	chrX	73744294	73744294	+	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	tcctgggccactactttcaaCgccgcctgggtctggccaat	6	10	10	15	2	2	0	1	0	1	0	3	0	3	0	5	3	2	0	5	3	3	2	rs201194222		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:73744294C>T	ENST00000587091.1	+	3	853	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R300C	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	226					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)	p.R300C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTACTTTCAACGCCGCCTGGG	0.547																																						.											1	Substitution - Missense(1)	endometrium(1)						C	CYS/ARG	1,3834		0,0,1,1632,570	110	83	92		898	5.8	1	X		92	1,6727		0,1,0,2427,1872	yes	missense	SLC16A2	NM_006517.3	180	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	probably-damaging	300/614	73744294	2,10561	2203	4300	6503	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.676C>T	X.37:g.73744294C>T	ENSP00000465734:p.Arg226Cys		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889751	0.72524	2.61E-4	1.49E-4	ENSG00000147100	ENST00000276033	T	0.58797	0.31	5.75	5.75	0.90469	Major facilitator superfamily domain, general substrate transporter (1);	0.321801	0.35235	N	0.003345	T	0.75547	0.3864	M	0.76838	2.35	0.53688	D	0.999975	D	0.89917	1.0	D	0.75020	0.985	T	0.78727	-0.2091	10	0.87932	D	0	.	13.8526	0.63506	0.1524:0.8475:0.0:0.0	.	226	P36021	MOT8_HUMAN	C	300	ENSP00000276033:R300C	ENSP00000276033:R300C	R	+	1	0	SLC16A2	73661019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	2.420000	0.82092	0.597000	0.82753	CGC		0.547	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			T	73744294	C	T	73744294	3	4	43	1	0	0	0	0	1	0	0	0	14408	536	19	1	908	1	SLC16A2	23	73744294	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	2319294	73744294	81526266	1104	4281											
ATRX	546	broad.mit.edu	37	chrX	76888847	76888847	+	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	tgtagcttctctcctgaggaCgtttcacagttgctaattca	8	15	8	10	1	3	1	2	1	1	0	5	2	4	2	1	1	2	5	1	1	2	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:76888847C>T	ENST00000373344.5	-	19	5196	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H	ATRX_ENST00000395603.3_Missense_Mutation_p.R1623H|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1661	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						CTCCTGAGGACGTTTCACAGT	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											209	202	204					X																	76888847		2203	4296	6499	SO:0001583	missense	546			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.4982G>A	X.37:g.76888847C>T	ENSP00000362441:p.Arg1661His		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073045	0.55646	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93763	-3.28;-3.28	5.83	5.83	0.93111	DEAD-like helicase (2);SNF2-related (1);	0.066342	0.56097	D	0.000024	D	0.93822	0.8024	L	0.59967	1.855	0.80722	D	1	P;P	0.45176	0.784;0.852	P;P	0.46825	0.528;0.52	D	0.94045	0.7313	10	0.62326	D	0.03	-6.8896	19.0151	0.92890	0.0:1.0:0.0:0.0	.	1623;1661	P46100-4;P46100	.;ATRX_HUMAN	H	1661;1623	ENSP00000362441:R1661H;ENSP00000378967:R1623H	ENSP00000362441:R1661H	R	-	2	0	ATRX	76775503	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	5.662000	0.68032	2.440000	0.82611	0.594000	0.82650	CGT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		T	76888847	C	T	76888847	3	4	43	1	0	0	0	0	1	0	0	0	1208	536	19	1	2564	1	ATRX	23	76888847	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	3144553	76888847	78381713	1105	4282											
HDX	139324	broad.mit.edu	37	chrX	83599463	83599463	+	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	cttcttcgattcccaatccaAgtctttataagagaaatata	14	14	4	9	1	2	1	0	0	2	1	5	3	4	1	2	0	0	0	2	0	7	8			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:83599463A>C	ENST00000297977.5	-	6	1566	c.1455T>G	c.(1453-1455)acT>acG	p.T485T	HDX_ENST00000373177.2_Silent_p.T485T|HDX_ENST00000506585.2_Silent_p.T427T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	485						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCCAATCCAAGTCTTTATAA	0.373																																					Pancreas(53;231 1169 36156 43751 51139)	.											0													39	41	40					X																	83599463		2201	4292	6493	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1455T>G	X.37:g.83599463A>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.373	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		C	83599463	A	C	83599463	2	2	43	1	0	0	0	0	0	0	0	1	7026	59	3	5		5	HDX	23	83599463	Silent	SNP	A	TCGA-KN-8428-01A-11D-2310-10	6710616	83599463	71671097	1106	4283											
FAM199X	139231	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	103431192	103431192	+	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	tgagtactgagatgggtcttCgggagcaacttgatattatt	10	14	12	5	1	1	3	0	3	1	1	2	5	1	4	0	2	3	2	0	2	4	6			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:103431192C>T	ENST00000493442.1	+	4	785	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	207										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GATGGGTCTTCGGGAGCAACT	0.358																																						.											0													132	122	126					X																	103431192		2203	4300	6503	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.619C>T	X.37:g.103431192C>T	ENSP00000417581:p.Arg207Trp		Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043222	0.75732	.	.	ENSG00000123575	ENST00000493442	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.76509	-0.2933	8	.	.	.	-8.1108	16.3372	0.83068	0.0:1.0:0.0:0.0	.	207;207	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	W	207	.	.	R	+	1	2	FAM199X	103317848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.818000	0.62657	2.141000	0.66446	0.600000	0.82982	CGG		0.358	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		T	103431192	C	T	103431192	3	4	43	1	0	0	0	0	1	0	0	0	5530	875	31	1	633	1	FAM199X	23	103431192	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	19831729	103431192	51839368	1107	4284											
TEX13A	56157	broad.mit.edu	37	chrX	104463685	104463685	+	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	cagattcccttcccacagtcGaagcaagtatccctccgtga	10	9	7	15	2	0	2	0	1	0	1	5	3	4	2	4	0	1	2	4	0	3	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:104463685G>A	ENST00000413579.1	-	5	1302	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_3'UTR|TEX13A_ENST00000372578.3_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	397							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCCACAGTCGAAGCAAGTAT	0.478																																						.											0													173	163	166					X																	104463685		2072	4192	6264	SO:0001819	synonymous_variant	56157			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.1191C>T	X.37:g.104463685G>A			B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37																																																																																					0.478	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		A	104463685	G	A	104463685	2	1	43	1	0	0	0	0	0	0	0	1	15773	1059	37	1		1	TEX13A	23	104463685	Silent	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1032493	104463685	50806875	1108	4285											
TBC1D8B	54885	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	106070529	106070529	+	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	caaaactcaggctcagatgcGgagcagcttcaactcaatat	14	8	8	11	1	4	1	4	0	0	1	4	2	4	2	0	2	5	3	0	2	5	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:106070529G>A	ENST00000357242.5	+	7	1339	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.G389R|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.G389R|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.G389R	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	389							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTCAGATGCGGAGCAGCTTC	0.373																																						.											0													89	88	89					X																	106070529		2203	4299	6502	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1165G>A	X.37:g.106070529G>A	ENSP00000349781:p.Gly389Arg		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	g	7.605	0.673622	0.14776	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.22539	3.18;2.57;1.95;3.17	5.36	4.48	0.54585	.	0.188414	0.46145	N	0.000304	T	0.10809	0.0264	N	0.17474	0.49	0.30827	N	0.737095	B;B;B	0.14012	0.005;0.001;0.009	B;B;B	0.10450	0.003;0.001;0.005	T	0.22347	-1.0219	10	0.14656	T	0.56	-1.9774	6.6205	0.22800	0.1004:0.1854:0.7142:0.0	.	389;389;389	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	R	389	ENSP00000349781:G389R;ENSP00000310675:G389R;ENSP00000421375:G389R;ENSP00000276175:G389R	ENSP00000276175:G389R	G	+	1	0	TBC1D8B	105957185	0.986000	0.35501	0.107000	0.21349	0.337000	0.28794	1.727000	0.38095	0.990000	0.38787	0.502000	0.49764	GGA		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		A	106070529	G	A	106070529	3	1	43	1	0	0	0	0	1	0	0	0	15623	1117	39	1	1191	1	TBC1D8B	23	106070529	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	1606844	106070529	49200031	1109	4286											
LRCH2	57631	hgsc.bcm.edu	37	chrX	114357360	114357360	+	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	catgaatactagcaacagaaCgtggccttatatgattggct	13	11	9	8	1	0	3	0	2	0	1	0	3	0	3	1	2	4	2	1	2	7	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:114357360C>T	ENST00000317135.8	-	19	2093	c.2063G>A	c.(2062-2064)cGt>cAt	p.R688H	LRCH2_ENST00000538422.1_Missense_Mutation_p.R671H	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	688	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGCAACAGAACGTGGCCTTAT	0.368																																						.											0													108	97	101					X																	114357360		1959	4150	6109	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2063G>A	X.37:g.114357360C>T	ENSP00000325091:p.Arg688His		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463448	0.84425	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.95069	-3.6;-3.6	5.39	5.39	0.77823	Calponin homology domain (5);	0.117372	0.64402	D	0.000015	D	0.97294	0.9115	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.87578	0.998;0.8	D	0.97619	1.0134	10	0.59425	D	0.04	-7.9127	16.6315	0.85035	0.0:1.0:0.0:0.0	.	688;671	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	H	688;167;671	ENSP00000325091:R688H;ENSP00000439366:R671H	ENSP00000325091:R688H	R	-	2	0	LRCH2	114263616	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.320000	0.79064	2.499000	0.84300	0.422000	0.28245	CGT		0.368	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		T	114357360	C	T	114357360	3	4	43	1	0	0	0	0	1	0	0	0	8933	536	19	1	246	1	LRCH2	23	114357360	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	8286831	114357360	40913200	1110	4287											
IL13RA1	3597	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chrX	117907851	117907851	+	Missense_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	tcattctccaggtaagaagcGcaattccacactctacataa	14	10	5	12	1	3	1	1	0	2	1	5	1	4	1	2	1	2	2	2	1	5	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:117907851G>A	ENST00000371666.3	+	9	1086	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	IL13RA1_ENST00000371637.3_Missense_Mutation_p.R139H	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	340					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GGTAAGAAGCGCAATTCCACA	0.393																																						.											0													268	234	246					X																	117907851		2203	4300	6503	SO:0001583	missense	3597			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1019G>A	X.37:g.117907851G>A	ENSP00000360730:p.Arg340His		O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198911	0.38806	.	.	ENSG00000131724	ENST00000371666;ENST00000371637	D	0.90620	-2.7	5.54	0.181	0.15073	.	1.672200	0.03378	N	0.199998	T	0.79575	0.4469	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	0.66622	-0.5877	10	0.38643	T	0.18	0.6536	3.5262	0.07760	0.39:0.3911:0.1338:0.0851	.	340;340	Q5JSL4;P78552	.;I13R1_HUMAN	H	340;139	ENSP00000360730:R340H	ENSP00000360700:R139H	R	+	2	0	IL13RA1	117791879	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	0.181000	0.16880	-0.027000	0.13873	-0.377000	0.06932	CGC		0.393	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		A	117907851	G	A	117907851	3	1	43	1	0	0	0	0	1	0	0	0	7629	1087	38	1	1053	1	IL13RA1	23	117907851	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	3550491	117907851	37362709	1111	4288											
DCAF12L2	340578	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	125299514	125299514	+	Missense_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	gtcccgcatgagggggatgcGcgtgatgtggcctgactgca	6	8	17	10	3	0	3	0	3	0	0	1	4	1	4	2	3	2	2	2	3	0	0			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:125299514G>A	ENST00000360028.2	-	1	420	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R132C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	132										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGGGGGATGCGCGTGATGTGG	0.637																																						.											0													87	80	83					X																	125299514		2203	4300	6503	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.394C>T	X.37:g.125299514G>A	ENSP00000353128:p.Arg132Cys		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	9.379	1.072568	0.20147	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.38401	1.14;1.14	3.89	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.42921	0.1224	M	0.67953	2.075	0.09310	N	1	D	0.67145	0.996	P	0.50791	0.65	T	0.23511	-1.0186	9	0.49607	T	0.09	.	7.8811	0.29623	0.0:0.0:0.5518:0.4482	.	132	Q5VW00	DC122_HUMAN	C	132	ENSP00000441489:R132C;ENSP00000353128:R132C	ENSP00000353128:R132C	R	-	1	0	DCAF12L2	125127195	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.290000	0.51755	0.396000	0.25283	-0.337000	0.08149	CGC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125299514	G	A	125299514	3	1	43	1	0	0	0	0	1	0	0	0	4265	1087	38	1	1001	1	DCAF12L2	23	125299514	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	7391663	125299514	29971046	1112	4289											
BCORL1	63035	mdanderson.org;bcgsc.ca	37	chrX	129190044	129190044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagactgtggagctggTgcggtacgagccagacctac	8	8	14	11	2	1	2	0	1	1	2	1	5	1	3	2	3	5	2	2	3	2	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129190044T>C	ENST00000218147.7	+	13	5266	c.5069T>C	c.(5068-5070)gTg>gCg	p.V1690A	BCORL1_ENST00000303743.5_Missense_Mutation_p.V1764A|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1560A|BCORL1_ENST00000540052.1_Missense_Mutation_p.V1690A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1690					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						GTGGAGCTGGTGCGGTACGAG	0.607																																						.											0													40	39	40					X																	129190044		2203	4300	6503	SO:0001583	missense	63035			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.5069T>C	X.37:g.129190044T>C	ENSP00000218147:p.Val1690Ala		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.048561	0.75846	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.55413	0.54;0.52;0.56;0.54;0.55	4.85	4.85	0.62838	.	0.000000	0.31507	N	0.007529	T	0.65123	0.2661	M	0.65975	2.015	0.50313	D	0.999861	D;D	0.63880	0.971;0.993	P;P	0.56960	0.697;0.81	T	0.70096	-0.4966	10	0.87932	D	0	-11.4851	13.6255	0.62161	0.0:0.0:0.0:1.0	.	1764;1690	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	A	1690;1764;1560;1690;1364	ENSP00000218147:V1690A;ENSP00000307541:V1764A;ENSP00000352253:V1560A;ENSP00000437775:V1690A;ENSP00000399483:V1364A	ENSP00000218147:V1690A	V	+	2	0	BCORL1	129017725	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	7.163000	0.77524	1.790000	0.52503	0.414000	0.27820	GTG		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		C	129190044	T	C	129190044	3	2	43	1	0	0	0	0	1	0	0	0	1387	1696	59	2	5341	2	BCORL1	23	129190044	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	3890530	129190044	26080516	1113	4290											
ZNF280C	55609	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	129363022	129363022	+	Missense_Mutation	SNP	T	T	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	agggtgtgggatattgccggTaacagtgctggcaggtggtg	7	10	19	5	1	0	0	0	0	0	0	0	1	0	1	1	6	3	3	1	6	2	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129363022T>C	ENST00000370978.4	-	10	1229	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATATTGCCGGTAACAGTGCTG	0.438																																						.											0													382	281	315					X																	129363022		2203	4300	6503	SO:0001583	missense	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1076A>G	X.37:g.129363022T>C	ENSP00000360017:p.Tyr359Cys		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	t	16.18	3.051089	0.55218	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.05855	4.24;3.38	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.17238	0.0414	L	0.50333	1.59	0.33810	D	0.627693	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.10706	-1.0618	9	0.48119	T	0.1	.	10.3849	0.44134	0.0:0.0:0.0:1.0	.	359;359	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	C	359	ENSP00000360017:Y359C;ENSP00000408521:Y359C	ENSP00000066465:Y359C	Y	-	2	0	ZNF280C	129190703	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.917000	0.48821	1.647000	0.50633	0.422000	0.28245	TAC		0.438	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		C	129363022	T	C	129363022	3	2	43	1	0	0	0	0	1	0	0	0	17813	1638	57	2	1177	2	ZNF280C	23	129363022	Missense_Mutation	SNP	T	TCGA-KN-8428-01A-11D-2310-10	172978	129363022	25907538	1114	4291											
ENOX2	10495	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	129804011	129804011	+	Missense_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	tgggggtggagatggtggacGcaatctttcttcttccattc	6	14	13	8	1	3	1	0	0	3	1	5	3	4	2	1	5	0	1	1	5	1	4	rs143816261		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129804011G>A	ENST00000370927.1	-	5	730	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	ENOX2_ENST00000394363.1_Missense_Mutation_p.R208C|ENOX2_ENST00000338144.3_Missense_Mutation_p.R237C|ENOX2_ENST00000370935.1_Missense_Mutation_p.R208C			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	237					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATGGTGGACGCAATCTTTCT	0.463													G|||	5	0.0013245	0	0	3775	,	,		15898	0.005		0	False		,,,				2504	0				Ovarian(101;828 1506 2951 9500 35258)	.											0													229	173	192					X																	129804011		2203	4300	6503	SO:0001583	missense	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.709C>T	X.37:g.129804011G>A	ENSP00000359965:p.Arg237Cys		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	CCDS14626.1	5	0.0030138637733574444	0	0.0	0	0.0	3	0.00528169014084507	0	0.0	G	21.1	4.093527	0.76756	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.31	5.31	0.75309	.	0.063433	0.64402	D	0.000004	T	0.68550	0.3013	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66497	0.944;0.944	T	0.73962	-0.3817	8	.	.	.	-5.4965	10.2292	0.43245	0.0:0.0:0.803:0.197	.	237;265	Q16206;A4QPE1	ENOX2_HUMAN;.	C	208;208;237;208;265;237;208	.	.	R	-	1	0	ENOX2	129631692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.896000	0.63222	2.463000	0.83235	0.600000	0.82982	CGT		0.463	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		A	129804011	G	A	129804011	3	1	43	1	0	0	0	0	1	0	0	0	5127	1087	38	1	1159	1	ENOX2	23	129804011	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	440989	129804011	25466549	1115	4292											
ATP11C	286410	broad.mit.edu;mdanderson.org	37	chrX	138884415	138884415	+	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	ttgtagaggtcaggttgaggCtgttcacattcaattgctgc	8	14	12	7	0	3	2	3	1	0	1	3	2	3	2	0	3	2	5	0	3	2	6	rs376810884		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:138884415C>T	ENST00000327569.3	-	7	746	c.648G>A	c.(646-648)caG>caA	p.Q216Q	ATP11C_ENST00000370557.1_Silent_p.Q213Q|ATP11C_ENST00000370543.1_Silent_p.Q216Q|ATP11C_ENST00000359686.2_Silent_p.Q216Q|ATP11C_ENST00000361648.2_Silent_p.Q216Q	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	216					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTGAGGCTGTTCACATT	0.423																																						.											0								C	,	0,3835		0,0,1632,571	286	228	247		648,648	3.9	1	X		247	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	ATP11C	NM_001010986.2,NM_173694.4	,	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,	216/1120,216/1133	138884415	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.648G>A	X.37:g.138884415C>T			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1																																																																																				0.423	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		T	138884415	C	T	138884415	2	4	43	1	0	0	0	0	0	0	0	1	1121	796	28	4		4	ATP11C	23	138884415	Silent	SNP	C	TCGA-KN-8428-01A-11D-2310-10	9080404	138884415	16386145	1116	4293											
FMR1	2332	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	147011711	147011711	+	Missense_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	catgcactttcggagtctgcGcactaagttgtctctgataa	9	13	9	10	2	2	1	0	1	2	0	4	2	2	2	0	1	2	3	0	1	2	4			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:147011711G>A	ENST00000370475.4	+	7	706	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Missense_Mutation_p.R193H|FMR1_ENST00000370471.3_Missense_Mutation_p.R193H|FMR1_ENST00000370477.1_Missense_Mutation_p.R193H|FMR1_ENST00000334557.6_Missense_Mutation_p.R193H|FMR1_ENST00000370470.1_Missense_Mutation_p.R193H|FMR1_ENST00000218200.8_Missense_Mutation_p.R193H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	193					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R193H(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGTCTGCGCACTAAGTTG	0.408									Fragile X syndrome																													.											1	Substitution - Missense(1)	NS(1)											141	117	125					X																	147011711		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.578G>A	X.37:g.147011711G>A	ENSP00000359506:p.Arg193His		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631865	0.87660	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.61627	0.86;0.09;0.9;0.88;1.18;0.9;0.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.858;0.924;0.994;0.997;0.997	T	0.83127	-0.0115	10	0.87932	D	0	-20.2599	16.6447	0.85173	0.0:0.0:1.0:0.0	.	193;193;109;193;193	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	193	ENSP00000218200:R193H;ENSP00000359502:R193H;ENSP00000359508:R193H;ENSP00000359506:R193H;ENSP00000355115:R193H;ENSP00000395923:R193H;ENSP00000359501:R193H	ENSP00000218200:R193H	R	+	2	0	FMR1	146819403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.679000	0.98649	2.221000	0.72209	0.600000	0.82982	CGC		0.408	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		A	147011711	G	A	147011711	3	1	43	1	0	0	0	0	1	0	0	0	5960	1087	38	1	604	1	FMR1	23	147011711	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	8127296	147011711	8258849	1117	4294											
DUSP9	1852	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	152915503	152915503	+	Missense_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	gggtcagccgttctgtcaccGtcactgtggcctacctcatg	5	11	11	14	2	5	0	4	0	1	0	5	0	5	0	4	2	2	1	4	2	1	2			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:152915503G>A	ENST00000342782.3	+	4	1163	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	DUSP9_ENST00000370167.4_Missense_Mutation_p.V300I			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	300	Tyrosine-protein phosphatase.				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)					TTCTGTCACCGTCACTGTGGC	0.582																																						.											0													247	211	223					X																	152915503		2203	4300	6503	SO:0001583	missense	1852			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.898G>A	X.37:g.152915503G>A	ENSP00000345853:p.Val300Ile		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.173822	0.78452	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	D;D	0.86030	-2.06;-2.06	4.94	4.05	0.47172	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.233047	0.28077	N	0.016699	T	0.79644	0.4481	N	0.11651	0.15	0.52099	D	0.999946	P	0.43578	0.811	P	0.53006	0.715	T	0.75639	-0.3248	10	0.21014	T	0.42	.	13.1079	0.59257	0.0:0.1585:0.8415:0.0	.	300	Q99956	DUS9_HUMAN	I	300	ENSP00000359186:V300I;ENSP00000345853:V300I	ENSP00000345853:V300I	V	+	1	0	DUSP9	152568697	1.000000	0.71417	0.800000	0.32199	0.866000	0.49608	7.582000	0.82546	1.036000	0.39998	0.529000	0.55759	GTC		0.582	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		A	152915503	G	A	152915503	3	1	43	1	0	0	0	0	1	0	0	0	4832	1145	40	1	908	1	DUSP9	23	152915503	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	5903792	152915503	2355057	1118	4295											
PLXNB3	5365	broad.mit.edu	37	chrX	153037418	153037418	+	Missense_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	atgtgcagtacgccgtgagcGtggccagccggccctgcaac	7	6	14	14	4	0	1	0	1	0	0	0	1	0	1	4	2	6	3	4	2	2	1			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:153037418G>A	ENST00000361971.5	+	15	2731	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M	PLXNB3_ENST00000538776.1_Missense_Mutation_p.V526M|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V896M|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V483M|PLXNB3_ENST00000538543.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	873	IPT/TIG 1.				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)					CGCCGTGAGCGTGGCCAGCCG	0.697																																						.											0													39	35	36					X																	153037418		2195	4292	6487	SO:0001583	missense	5365			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.2617G>A	X.37:g.153037418G>A	ENSP00000355378:p.Val873Met		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416537	0.62511	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.96	4.96	0.65561	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	M	0.76433	2.335	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.984;0.997;0.999	D	0.88962	0.3394	10	0.87932	D	0	.	14.6355	0.68686	0.0:0.0:1.0:0.0	.	526;555;896;873	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	896;873;526;483	ENSP00000442736:V896M;ENSP00000355378:V873M;ENSP00000445569:V526M;ENSP00000441919:V483M	ENSP00000355378:V873M	V	+	1	0	PLXNB3	152690612	1.000000	0.71417	0.892000	0.35008	0.041000	0.13682	7.691000	0.84191	2.035000	0.60131	0.513000	0.50165	GTG		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153037418	G	A	153037418	3	1	43	1	0	0	0	0	1	0	0	0	12125	1145	40	1	2789	1	PLXNB3	23	153037418	Missense_Mutation	SNP	G	TCGA-KN-8428-01A-11D-2310-10	121915	153037418	2233142	1119	4296											
MECP2	4204	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	153296438	153296438	+	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	ggctttctttttggcctcggCggcagcggctgccaccacac	4	10	12	15	3	1	0	0	0	1	0	2	0	1	0	3	5	2	3	3	5	0	3			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:153296438C>T	ENST00000303391.6	-	4	1090	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.A293T	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	281					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCCTCGGCGGCAGCGGCT	0.612																																						.											0													48	49	48					X																	153296438		2195	4279	6474	SO:0001583	missense	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.841G>A	X.37:g.153296438C>T	ENSP00000301948:p.Ala281Thr		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595254	0.28445	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91945	-2.94;-2.93	5.06	5.06	0.68205	.	0.273357	0.41001	D	0.000965	T	0.81683	0.4874	N	0.19112	0.55	0.80722	D	1	P;P	0.49253	0.82;0.921	B;B	0.32762	0.152;0.129	T	0.82571	-0.0391	10	0.08837	T	0.75	-13.0911	16.204	0.82108	0.0:1.0:0.0:0.0	.	293;281	P51608-2;P51608	.;MECP2_HUMAN	T	281;281;293	ENSP00000301948:A281T;ENSP00000395535:A293T	ENSP00000301948:A281T	A	-	1	0	MECP2	152949632	0.756000	0.28383	0.130000	0.21974	0.767000	0.43475	2.124000	0.42006	2.344000	0.79699	0.600000	0.82982	GCC		0.612	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		T	153296438	C	T	153296438	3	4	43	1	0	0	0	0	1	0	0	0	9423	768	27	1	623	1	MECP2	23	153296438	Missense_Mutation	SNP	C	TCGA-KN-8428-01A-11D-2310-10	259020	153296438	1974122	1120	4297											
F8	2157	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	154197604	154197604	+	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	ttttaaagatccaagatattAccatgttggtgggaagagat	14	13	10	4	0	0	3	0	0	0	3	1	5	1	4	2	2	1	1	2	2	6	5			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:154197604A>G	ENST00000360256.4	-	7	1210		c.e7+1		F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component						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)	CCAAGATATTACCATGTTGGT	0.358																																						.											0													70	63	66					X																	154197604		2203	4300	6503	SO:0001630	splice_region_variant	2157			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.1009+1T>C	X.37:g.154197604A>G			Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952972	0.53293	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1694	0.54148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F8	153850798	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	6.308000	0.72820	1.894000	0.54839	0.441000	0.28932	.		0.358	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Intron	G	154197604	A	G	154197604	5	3	43	1	0	0	0	0	0	0	1	0	5350	405	14	2	6152	2	F8	23	154197604	Splice_Site	SNP	A	TCGA-KN-8428-01A-11D-2310-10	901166	154197604	1072956	1121	4298											
AGRN	375790	broad.mit.edu	37	chr1	983488	983489	+	In_Frame_Ins	INS	-	-	CCA																															tcgcgcctgccgtcctctgcINStgtgacccctcgggccccgc																										TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:983488_983489insCCA	ENST00000379370.2	+	23	3898_3899	c.3848_3849insCCA	c.(3847-3852)gctgtg>gcCCAtgtg	p.1283_1284AV>AHV		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1283	Ser/Thr-rich.				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)		CCGTCCTCTGCTGTGACCCCTC	0.698																																						.											0																																										SO:0001652	inframe_insertion	375790			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	Exception_encountered	1.37:g.983488_983489insCCA	ENSP00000368678:p.Ala1283_Val1284insHis		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	In_Frame_Ins	INS	ENST00000379370.2	37	CCDS30551.1																																																																																				0.698	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		CCA	983489	-	CCA	983488	7	5	44	1	0	1	1	0	0	0	0	0	397	797	28	0	3938	0	AGRN	1	983488	In_Frame_Ins	INS	-	TCGA-KN-8429-01A-11D-2310-10		983488	248267133	1	4299	101	2									
AGRN	375790	broad.mit.edu	37	chr1	983491	983493	+	In_Frame_Del	DEL	TGA	TGA	-																															gcgcctgccgtcctctgctgTgacccctcgggccccgcacc																										TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:983491_983493delTGA	ENST00000379370.2	+	23	3901_3903	c.3851_3853delTGA	c.(3850-3855)gtgacc>gcc	p.1284_1285VT>A		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1284	Ser/Thr-rich.				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)		TCCTCTGCTGTGACCCCTCGGGC	0.695																																						.											0																																										SO:0001651	inframe_deletion	375790			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.3851_3853delTGA	1.37:g.983491_983493delTGA	ENSP00000368678:p.Val1284_Thr1285delinsAla		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	In_Frame_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																				0.695	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		-	983493	TGA	-	983491	7	5	44	1	0	1	0	1	0	0	0	0	397	1696	59	0	3941	0	AGRN	1	983491	In_Frame_Del	DEL	TGA	TCGA-KN-8429-01A-11D-2310-10	3	983491	248267130	2	4300	101	2									
NBPF1	55672	mdanderson.org	37	chr1	16907914	16907914	+	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	ctcctgagtattcagtgttaCctgggggcagatgattccag	8	12	12	9	0	1	3	1	2	0	1	3	3	3	3	3	2	1	3	3	2	2	4			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:16907914C>T	ENST00000430580.2	-	15	2267		c.e15+1		NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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)		TTCAGTGTTACCTGGGGGCAG	0.438																																						.											0													255	285	274					1																	16907914		1493	2696	4189	SO:0001630	splice_region_variant	55672			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.1379+1G>A	1.37:g.16907914C>T			Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																					0.438	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	T	16907914	C	T	16907914	5	4	44	1	0	0	0	0	0	0	1	0	10192	521	18	3	2104	3	NBPF1	1	16907914	Splice_Site	SNP	C	TCGA-KN-8429-01A-11D-2310-10	15924423	16907914	232342707	3	4301											
RBMXL1	494115	mdanderson.org	37	chr1	89449237	89449237	+	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	gggggcggtccatgtctaccTctttcaaatgatggtttggt	6	14	13	8	1	3	1	1	1	2	0	4	1	4	1	2	5	1	1	2	5	2	3	rs200727134		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:89449237T>A	ENST00000321792.5	-	2	700	c.273A>T	c.(271-273)agA>agT	p.R91S	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R91S|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	91					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CATGTCTACCTCTTTCAAATG	0.522											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													103	106	105					1																	89449237		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.273A>T	1.37:g.89449237T>A	ENSP00000318415:p.Arg91Ser	1267		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	T	0.418	-0.909529	0.02434	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.74315	-0.83;-0.83	1.59	-1.88	0.07713	Nucleotide-binding, alpha-beta plait (1);	0.103071	0.64402	N	0.000004	T	0.12518	0.0304	N	0.02412	-0.56	0.24373	N	0.994823	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	10	0.02654	T	1	-5.4219	1.5207	0.02515	0.4483:0.0:0.2296:0.322	.	91	Q96E39	RBMXL_HUMAN	S	91	ENSP00000318415:R91S;ENSP00000446099:R91S	ENSP00000318415:R91S	R	-	3	2	RBMXL1	89221825	0.996000	0.38824	0.677000	0.29947	0.326000	0.28443	0.395000	0.20850	-0.106000	0.12110	-1.038000	0.02383	AGA		0.522	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		A	89449237	T	A	89449237	3	1	44	1	0	0	0	0	1	0	0	0	13153	1548	54	5	903	5	RBMXL1	1	89449237	Missense_Mutation	SNP	T	TCGA-KN-8429-01A-11D-2310-10	72541323	89449237	159801384	4	4302											
CLCC1	23155	broad.mit.edu	37	chr1	109486125	109486125	+	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	aatacatccaattccatcccAaactgaacagaaagctgatg	17	8	5	11	0	0	3	0	2	0	1	3	3	3	3	3	0	4	1	3	0	6	2			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:109486125A>C	ENST00000369971.2	-	6	803	c.674T>G	c.(673-675)tTg>tGg	p.L225W	CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.L175W|CLCC1_ENST00000415331.1_Missense_Mutation_p.L175W|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000302500.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.L225W|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	225						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)		ATTCCATCCCAAACTGAACAG	0.368																																						.											0													94	105	101					1																	109486125		2203	4300	6503	SO:0001583	missense	23155			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.674T>G	1.37:g.109486125A>C	ENSP00000358988:p.Leu225Trp		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847298	0.71603	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369970	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.26	5.26	0.73747	.	0.241386	0.42420	D	0.000720	T	0.61565	0.2357	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.919;0.961	T	0.67546	-0.5643	10	0.72032	D	0.01	-0.3509	11.4695	0.50259	0.927:0.0:0.073:0.0	.	175;225	Q96S66-2;Q96S66	.;CLCC1_HUMAN	W	225;225;175;175	ENSP00000349456:L225W;ENSP00000358988:L225W;ENSP00000411591:L175W;ENSP00000358987:L175W	ENSP00000349456:L225W	L	-	2	0	CLCC1	109287648	0.996000	0.38824	0.948000	0.38648	0.811000	0.45836	3.750000	0.55157	2.114000	0.64651	0.482000	0.46254	TTG		0.368	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		C	109486125	A	C	109486125	3	2	44	1	0	0	0	0	1	0	0	0	3460	131	5	5	1005	5	CLCC1	1	109486125	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	20036888	109486125	139764496	5	4303											
OVGP1	5016	bcgsc.ca	37	chr1	111957517	111957517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcacagactgatgacTcacaggggtcacagactgat	12	7	12	10	0	3	5	3	3	0	2	3	5	3	5	0	3	0	1	0	3	0	0	rs3767609|rs201350653|rs549398942	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:111957517T>C	ENST00000369732.3	-	11	1661	c.1606A>G	c.(1606-1608)Agt>Ggt	p.S536G		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	536			S -> G (in dbSNP:rs3767609).		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)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)		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)		GACTGATGACTCACAGGGGTC	0.547													T|||	1503	0.30012	0.4092	0.2291	5008	,	,		16183	0.2044		0.2972	False		,,,				2504	0.3047					.											4	Deletion - In frame(4)	haematopoietic_and_lymphoid_tissue(2)|stomach(2)						T	GLY/SER	1138,3170		242,654,1258	58	69	66		1606	-4.5	0	1	dbSNP_107	66	2424,6110		368,1688,2211	yes	missense	OVGP1	NM_002557.3	56	610,2342,3469	CC,CT,TT		28.404,26.416,27.7371	benign	536/679	111957517	3562,9280	2154	4267	6421	SO:0001583	missense	5016			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.1606A>G	1.37:g.111957517T>C	ENSP00000358747:p.Ser536Gly		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	6.657	0.489649	0.12702	0.26416	0.28404	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.02787	4.16	2.23	-4.46	0.03536	.	.	.	.	.	T	0.00524	0.0017	N	0.19112	0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44982	-0.9292	8	0.31617	T	0.26	0.2049	3.9657	0.09431	0.0:0.2687:0.3546:0.3767	rs3767609;rs3767609	536;600	Q12889;Q59HH5	OVGP1_HUMAN;.	G	536;600;344	ENSP00000358747:S536G	ENSP00000358743:S600G	S	-	1	0	OVGP1	111759040	0.017000	0.18338	0.000000	0.03702	0.168000	0.22595	0.634000	0.24614	-1.729000	0.01364	0.254000	0.18369	AGT		0.547	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		C	111957517	T	C	111957517	3	2	44	1	0	0	0	0	1	0	0	0	11325	1551	54	2	434	2	OVGP1	1	111957517	Missense_Mutation	SNP	T	TCGA-KN-8429-01A-11D-2310-10	2471392	111957517	137293104	6	4304											
CGN	57530	bcgsc.ca	37	chr1	151497210	151497210	+	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	aggggaaacagcgagtagagGagcagctgaggctgcgggag	12	3	20	6	2	0	2	0	1	0	1	0	6	0	5	0	5	5	4	0	5	2	1			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:151497210G>T	ENST00000271636.7	+	8	1595	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	482	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGAGTAGAGGAGCAGCTGAG	0.572																																						.											0													27	28	27					1																	151497210		2203	4300	6503	SO:0001587	stop_gained	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1462G>T	1.37:g.151497210G>T	ENSP00000271636:p.Glu488*		A6H8L3|A7MD22|Q5T386|Q9NR25	Nonsense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	39	7.894441	0.98548	.	.	ENSG00000143375	ENST00000271636	.	.	.	4.86	4.86	0.63082	.	0.255650	0.40222	N	0.001153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-27.7576	15.5281	0.75928	0.0:0.0:1.0:0.0	.	.	.	.	X	488	.	ENSP00000271636:E488X	E	+	1	0	CGN	149763834	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.226000	0.78060	2.522000	0.85027	0.655000	0.94253	GAG		0.572	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151497210	G	T	151497210	4	4	44	1	0	0	0	0	0	1	0	0	3303	1175	41	5	1488	5	CGN	1	151497210	Nonsense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	39539693	151497210	97753411	7	4305											
ATP8B2	57198	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr1	154315638	154315638	+	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	gatgagggggccctggtcacCgcagccaggaactttggttt	7	9	15	10	1	1	1	1	1	0	0	1	3	1	2	3	5	2	2	3	5	1	2			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:154315638C>T	ENST00000368489.3	+	16	1602	c.1602C>T	c.(1600-1602)acC>acT	p.T534T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	520					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)			CCCTGGTCACCGCAGCCAGGA	0.567																																						.											0													72	58	63					1																	154315638		2203	4300	6503	SO:0001819	synonymous_variant	57198			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.1602C>T	1.37:g.154315638C>T			B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	CCDS1066.1																																																																																				0.567	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		T	154315638	C	T	154315638	2	4	44	1	0	0	0	0	0	0	0	1	1195	639	23	1		1	ATP8B2	1	154315638	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	2818428	154315638	94934983	8	4306											
CD5L	922	mdanderson.org;bcgsc.ca	37	chr1	157805692	157805692	+	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	tcttcttgctcacactgagcCaatgtatcttctgttcctgt	6	17	6	12	0	5	1	1	1	4	0	6	1	6	1	2	0	2	3	2	0	2	5			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:157805692C>G	ENST00000368174.4	-	3	405	c.309G>C	c.(307-309)ttG>ttC	p.L103F	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	103	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACACTGAGCCAATGTATCTT	0.488																																						.											0													213	217	216					1																	157805692		2203	4300	6503	SO:0001583	missense	922			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.309G>C	1.37:g.157805692C>G	ENSP00000357156:p.Leu103Phe		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471904	0.43942	.	.	ENSG00000073754	ENST00000368174	T	0.57907	0.37	4.68	4.68	0.58851	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.35291	N	0.003305	T	0.65491	0.2696	M	0.90759	3.145	0.09310	N	1	D	0.71674	0.998	D	0.68353	0.957	T	0.62296	-0.6884	10	0.87932	D	0	.	8.6725	0.34159	0.0:0.8993:0.0:0.1007	.	103	O43866	CD5L_HUMAN	F	103	ENSP00000357156:L103F	ENSP00000357156:L103F	L	-	3	2	CD5L	156072316	0.000000	0.05858	0.194000	0.23346	0.023000	0.10783	-1.013000	0.03645	2.419000	0.82065	0.563000	0.77884	TTG		0.488	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		G	157805692	C	G	157805692	3	3	44	1	0	0	0	0	1	0	0	0	3027	593	21	5	750	5	CD5L	1	157805692	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	3490054	157805692	91444929	9	4307											
IGFN1	91156	bcgsc.ca	37	chr1	201181673	201181673	+	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	tctagggtctggatatgaacGggacatctggaaagcaggcc	11	8	14	8	1	3	1	0	1	3	0	3	4	3	4	1	5	2	1	1	5	4	2			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr1:201181673G>A	ENST00000335211.4	+	12	7782	c.7652G>A	c.(7651-7653)cGg>cAg	p.R2551Q	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGATATGAACGGGACATCTGG	0.587																																						.											0													25	27	27					1																	201181673		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7652G>A	1.37:g.201181673G>A	ENSP00000334714:p.Arg2551Gln		F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439042	0.25900	.	.	ENSG00000163395	ENST00000335211	T	0.51574	0.7	3.53	-7.07	0.01563	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.09310	N	0.999997	.	.	.	.	.	.	T	0.22871	-1.0204	6	.	.	.	.	7.8001	0.29170	0.326:0.0:0.5404:0.1336	.	.	.	.	Q	2551	ENSP00000334714:R2551Q	.	R	+	2	0	IGFN1	199448296	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-3.048000	0.00629	-2.294000	0.00663	-0.778000	0.03378	CGG		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201181673	G	A	201181673	3	1	44	1	0	0	0	0	1	0	0	0	7590	1116	39	1	7694	1	IGFN1	1	201181673	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	43375981	201181673	48068948	10	4308											
TEKT4	150483	ucsc.edu	37	chr2	95542418	95542419	+	Missense_Mutation	DNP	TG	TG	CA																															atgagcctggagaaggacatTgccgccatgaccaacagtct																								rs199648585|rs75603622	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr2:95542418_95542419TG>CA	ENST00000295201.4	+	6	1349_1350	c.1212_1213TG>CA	c.(1210-1215)atTGcc>atCAcc	p.A405T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	405					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						AGAAGGACATTGCCGCCATGAC	0.584																																						.											0																																										SO:0001583	missense	150483			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	Exception_encountered	2.37:g.95542418_95542419delinsCA	ENSP00000295201:p.Ala405Thr			Missense_Mutation	DNP	ENST00000295201.4	37	CCDS2005.1																																																																																				0.584	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		CA	95542419	TG	CA	95542418	3	2	44	1	0	0	0	0	1	0	0	0	15752	1800	63	4	1234	4	TEKT4	2	95542418	Missense_Mutation	DNP	TG	TCGA-KN-8429-01A-11D-2310-10		95542418	147656955	11	4309											
IL1R2	7850	bcgsc.ca	37	chr2	102626112	102626112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagccctgaggtgcccccaGgtgccctactggttgtgggc	4	9	15	13	0	0	1	0	1	0	0	0	1	0	1	4	4	4	2	4	4	2	3			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr2:102626112G>T	ENST00000332549.3	+	3	385	c.156G>T	c.(154-156)caG>caT	p.Q52H	IL1R2_ENST00000393414.2_Missense_Mutation_p.Q52H|IL1R2_ENST00000441002.1_Missense_Mutation_p.Q52H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	52	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GGTGCCCCCAGGTGCCCTACT	0.597																																					Pancreas(106;189 1628 2302 5133 12295)	.											0													133	140	138					2																	102626112		2203	4300	6503	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.156G>T	2.37:g.102626112G>T	ENSP00000330959:p.Gln52His		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342180	0.24339	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.8	0.212	0.15240	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.844176	0.10659	N	0.648915	T	0.70211	0.3198	L	0.54323	1.7	0.09310	N	1	D	0.56521	0.976	P	0.49502	0.613	T	0.58544	-0.7618	10	0.15499	T	0.54	.	1.1662	0.01816	0.1664:0.2397:0.3437:0.2502	.	52	P27930	IL1R2_HUMAN	H	52	ENSP00000330959:Q52H;ENSP00000377066:Q52H;ENSP00000408415:Q52H;ENSP00000414611:Q52H	ENSP00000330959:Q52H	Q	+	3	2	IL1R2	101992544	0.116000	0.22171	0.348000	0.25681	0.571000	0.35966	0.556000	0.23438	0.389000	0.25086	0.561000	0.74099	CAG		0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		T	102626112	G	T	102626112	3	4	44	1	0	0	0	0	1	0	0	0	7659	991	35	5	162	5	IL1R2	2	102626112	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	7083694	102626112	140573261	12	4310											
POTEF	728378	mdanderson.org	37	chr2	130872871	130872871	+	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	agttttactacttctgaattCccattggcagaggccagatg	10	13	9	9	0	1	3	0	1	1	2	2	3	2	3	2	2	2	2	2	2	3	6	rs199770435		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr2:130872871C>T	ENST00000409914.2	-	4	951	c.552G>A	c.(550-552)ggG>ggA	p.G184G	POTEF_ENST00000360967.5_Silent_p.G184G|POTEF_ENST00000361163.4_Silent_p.G184G|POTEF_ENST00000357462.5_Silent_p.G184G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	184					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G184G(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTCTGAATTCCCATTGGCAG	0.423																																						.											2	Substitution - coding silent(2)	prostate(2)											45	53	50					2																	130872871		2105	4041	6146	SO:0001819	synonymous_variant	728378			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.552G>A	2.37:g.130872871C>T			A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																				0.423	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130872871	C	T	130872871	2	4	44	1	0	0	0	0	0	0	0	1	12265	842	30	3		3	POTEF	2	130872871	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	28246759	130872871	112326502	13	4311											
PASK	23178	mdanderson.org	37	chr2	242080064	242080064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggacacactgccccgcgGttcggacgggtccgtgtgct	5	7	15	14	5	0	0	0	0	0	0	2	2	1	2	3	4	2	3	3	4	0	1			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr2:242080064G>T	ENST00000405260.1	-	3	999	c.301C>A	c.(301-303)Ccg>Acg	p.P101T	PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.P101T|PASK_ENST00000403638.3_Missense_Mutation_p.P101T|PASK_ENST00000234040.4_Missense_Mutation_p.P101T|PASK_ENST00000544142.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	101					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)		CTGCCCCGCGGTTCGGACGGG	0.597																																						.											0													74	71	72					2																	242080064		2203	4300	6503	SO:0001583	missense	23178			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.301C>A	2.37:g.242080064G>T	ENSP00000384016:p.Pro101Thr		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	0.841	-0.741927	0.03088	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638;ENST00000452907	T;T;T;T	0.66995	-0.24;-0.24;-0.19;0.76	4.67	-0.193	0.13244	.	0.522234	0.17487	N	0.172473	T	0.45155	0.1328	L	0.40543	1.245	0.18873	N	0.999988	B;B;P;B	0.38078	0.146;0.228;0.617;0.146	B;B;B;B	0.30855	0.057;0.083;0.121;0.057	T	0.43048	-0.9415	10	0.07325	T	0.83	.	9.3561	0.38168	0.8464:0.0:0.1536:0.0	.	101;101;101;101	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	T	101	ENSP00000234040:P101T;ENSP00000384016:P101T;ENSP00000351475:P101T;ENSP00000384438:P101T	ENSP00000234040:P101T	P	-	1	0	PASK	241728737	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.569000	0.23638	-0.212000	0.10109	-0.258000	0.10820	CCG		0.597	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242080064	G	T	242080064	3	4	44	1	0	0	0	0	1	0	0	0	11472	1261	44	5	3734	5	PASK	2	242080064	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	111207193	242080064	1119309	14	4312											
HDAC11	79885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	13544436	13544436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgtgtgtacatcatggAtgtctacaaccgccacatct	11	10	8	12	2	3	0	1	0	2	0	3	1	3	1	2	1	4	1	2	1	4	2			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr3:13544436A>G	ENST00000295757.3	+	8	788	c.605A>G	c.(604-606)gAt>gGt	p.D202G	HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000522202.1_Missense_Mutation_p.D151G|HDAC11_ENST00000402271.1_Missense_Mutation_p.D123G|HDAC11_ENST00000433119.1_Missense_Mutation_p.M160V|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.D174G|HDAC11_ENST00000495099.2_3'UTR|HDAC11_ENST00000446613.2_Missense_Mutation_p.D10G|HDAC11_ENST00000404040.1_Missense_Mutation_p.D102G|HDAC11_ENST00000404548.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	202	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						TACATCATGGATGTCTACAAC	0.582																																						.											0													195	181	186					3																	13544436		2203	4300	6503	SO:0001583	missense	79885			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.605A>G	3.37:g.13544436A>G	ENSP00000295757:p.Asp202Gly		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	CCDS2615.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.784923|4.784923	0.90282|0.90282	.|.	.|.	ENSG00000163517|ENSG00000163517	ENST00000295757;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000405478;ENST00000522202;ENST00000437379|ENST00000433119;ENST00000434848	T;T;T;T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Histone deacetylase domain (2);|.	0.117295|.	0.53938|.	D|.	0.000041|.	T|T	0.73837|0.73837	0.3638|0.3638	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	D;D|B	0.89917|0.14012	1.0;1.0|0.009	D;D|B	0.97110|0.11329	1.0;0.999|0.006	T|T	0.75852|0.75852	-0.3171|-0.3171	10|8	0.87932|0.87932	D|D	0|0	-10.674|-10.674	12.5707|12.5707	0.56334|0.56334	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	151;202|160	B4DDK1;Q96DB2|Q658J9	.;HDA11_HUMAN|.	G|V	202;123;10;102;174;151;174|160;168	ENSP00000295757:D202G;ENSP00000384123:D123G;ENSP00000401487:D10G;ENSP00000385475:D102G;ENSP00000385252:D174G;ENSP00000429794:D151G;ENSP00000395188:D174G|.	ENSP00000295757:D202G|ENSP00000412514:M160V	D|M	+|+	2|1	0|0	HDAC11|HDAC11	13519436|13519436	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	7.983000|7.983000	0.88140|0.88140	1.867000|1.867000	0.54127|0.54127	0.402000|0.402000	0.26972|0.26972	GAT|ATG		0.582	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		G	13544436	A	G	13544436	3	3	44	1	0	0	0	0	1	0	0	0	7006	333	12	4	635	4	HDAC11	3	13544436	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		13544436	184477994	15	4313											
LRRIQ4	344657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	169540071	169540071	+	Missense_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	cagcttcctccacgccctgcGcgagctccggctctaccaga	6	7	9	19	4	1	1	0	0	1	1	4	2	4	1	5	1	4	3	5	1	1	2			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr3:169540071G>A	ENST00000340806.6	+	1	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	121										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CACGCCCTGCGCGAGCTCCGG	0.607																																						.											0													53	59	57					3																	169540071		2072	4209	6281	SO:0001583	missense	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.362G>A	3.37:g.169540071G>A	ENSP00000342188:p.Arg121His			Missense_Mutation	SNP	ENST00000340806.6	37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565378	0.86439	.	.	ENSG00000188306	ENST00000340806	T	0.59772	0.24	5.56	5.56	0.83823	.	0.082415	0.51477	D	0.000088	T	0.61009	0.2313	M	0.77820	2.39	0.41284	D	0.986936	P	0.52316	0.952	B	0.43225	0.412	T	0.67280	-0.5710	10	0.49607	T	0.09	.	13.7965	0.63175	0.0754:0.0:0.9246:0.0	.	121	A6NIV6	LRIQ4_HUMAN	H	121	ENSP00000342188:R121H	ENSP00000342188:R121H	R	+	2	0	LRRIQ4	171022765	0.280000	0.24249	0.844000	0.33320	0.588000	0.36517	2.749000	0.47492	2.631000	0.89168	0.462000	0.41574	CGC		0.607	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		A	169540071	G	A	169540071	3	1	44	1	0	0	0	0	1	0	0	0	9031	1087	38	1	364	1	LRRIQ4	3	169540071	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	155995635	169540071	28482359	16	4314											
TP63	8626	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	189526226	189526226	+	Missense_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	atgctctctctccatcacccGccatcccctccaacaccgac	8	8	3	22	2	3	0	1	0	2	0	7	1	5	0	7	0	2	1	7	0	1	0			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr3:189526226G>A	ENST00000264731.3	+	4	579	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.A164T|TP63_ENST00000382063.4_Intron|TP63_ENST00000392460.3_Missense_Mutation_p.A164T|TP63_ENST00000392461.3_Missense_Mutation_p.A70T|TP63_ENST00000354600.5_Missense_Mutation_p.A70T|TP63_ENST00000392463.2_Missense_Mutation_p.A70T|TP63_ENST00000440651.2_Missense_Mutation_p.A164T|TP63_ENST00000418709.2_Missense_Mutation_p.A164T|TP63_ENST00000456148.1_Missense_Mutation_p.A70T|TP63_ENST00000437221.1_Missense_Mutation_p.A70T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	164					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)		TCCATCACCCGCCATCCCCTC	0.637										HNSCC(45;0.13)																												.											0													171	124	140					3																	189526226		2203	4300	6503	SO:0001583	missense	8626			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.490G>A	3.37:g.189526226G>A	ENSP00000264731:p.Ala164Thr		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	9.717	1.158763	0.21454	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99732	-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57	5.83	4.96	0.65561	p53, DNA-binding domain (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.106561	0.64402	D	0.000004	D	0.97269	0.9107	N	0.01705	-0.755	0.58432	D	0.999998	P;P;B;B;B;B;P;P;P	0.41643	0.758;0.758;0.347;0.347;0.187;0.223;0.758;0.677;0.758	B;B;B;B;B;B;B;B;B	0.41917	0.254;0.254;0.154;0.127;0.08;0.044;0.254;0.37;0.254	D	0.99222	1.0879	9	.	.	.	-7.0778	14.0633	0.64812	0.0719:0.0:0.9281:0.0	.	164;164;70;70;70;70;164;164;164	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	T	164;164;164;164;164;70;70;70;70;70;70	ENSP00000264731:A164T;ENSP00000407144:A164T;ENSP00000317510:A164T;ENSP00000376253:A164T;ENSP00000394337:A164T;ENSP00000346614:A70T;ENSP00000401661:A70T;ENSP00000392488:A70T;ENSP00000376256:A70T;ENSP00000376254:A70T;ENSP00000389485:A70T	.	A	+	1	0	TP63	191008920	1.000000	0.71417	0.888000	0.34837	0.136000	0.21042	7.863000	0.87023	1.485000	0.48380	-0.140000	0.14226	GCC		0.637	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		A	189526226	G	A	189526226	3	1	44	1	0	0	0	0	1	0	0	0	16389	1087	38	1	550	1	TP63	3	189526226	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	19986155	189526226	8496204	17	4315											
LGI2	55203	hgsc.bcm.edu;ucsc.edu	37	chr4	25005583	25005583	+	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	ccatcgatatcaacaaactcCgcatccgtgtccctgaacca	12	8	5	16	3	1	1	1	1	0	0	5	2	4	1	5	0	3	1	5	0	4	1			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr4:25005583C>T	ENST00000382114.4	-	8	1313	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	376						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAACAAACTCCGCATCCGTGT	0.483																																						.											0													117	121	120					4																	25005583		2203	4300	6503	SO:0001819	synonymous_variant	55203			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1128G>A	4.37:g.25005583C>T			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	CCDS3431.1																																																																																				0.483	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			T	25005583	C	T	25005583	2	4	44	1	0	0	0	0	0	0	0	1	8752	639	23	1		1	LGI2	4	25005583	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10		25005583	166148693	18	4316											
ADAMTS3	9508	broad.mit.edu;mdanderson.org	37	chr4	73205262	73205262	+	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	acgtgctctttgccatggaaAcggaccacagagtcatccac	11	8	9	13	2	2	1	1	0	1	1	3	3	3	3	3	2	3	1	3	2	1	1			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr4:73205262A>G	ENST00000286657.4	-	5	846	c.810T>C	c.(808-810)cgT>cgC	p.R270R		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	270	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)			TGCCATGGAAACGGACCACAG	0.453																																					NSCLC(168;1941 2048 2918 13048 43078)	.											0													322	324	324					4																	73205262		2203	4300	6503	SO:0001819	synonymous_variant	9508			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.810T>C	4.37:g.73205262A>G			A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																				0.453	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			G	73205262	A	G	73205262	2	3	44	1	0	0	0	0	0	0	0	1	267	30	2	2		2	ADAMTS3	4	73205262	Silent	SNP	A	TCGA-KN-8429-01A-11D-2310-10	48199679	73205262	117949014	19	4317											
C4orf17	84103	broad.mit.edu;mdanderson.org	37	chr4	100460404	100460404	+	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	cagaagaaacacctcaatggAaccagcagcagagactggga	17	3	11	10	0	1	3	1	0	0	3	1	6	1	5	2	2	4	2	2	2	4	0			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr4:100460404A>C	ENST00000326581.4	+	7	1075	c.713A>C	c.(712-714)gAa>gCa	p.E238A	C4orf17_ENST00000514652.1_Missense_Mutation_p.E238A	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	238										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACCTCAATGGAACCAGCAGCA	0.428																																						.											0													133	137	136					4																	100460404		2203	4300	6503	SO:0001583	missense	84103			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.713A>C	4.37:g.100460404A>C	ENSP00000322582:p.Glu238Ala		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400323	0.42613	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18960	2.18;2.18	5.09	3.92	0.45320	.	0.143577	0.33477	N	0.004867	T	0.33673	0.0871	M	0.69823	2.125	0.09310	N	1	D	0.60160	0.987	P	0.56751	0.805	T	0.11867	-1.0570	10	0.34782	T	0.22	-18.0611	7.0975	0.25317	0.9013:0.0:0.0987:0.0	.	238	Q53FE4	CD017_HUMAN	A	238	ENSP00000322582:E238A;ENSP00000427663:E238A	ENSP00000322582:E238A	E	+	2	0	C4orf17	100679427	0.272000	0.24172	0.066000	0.19879	0.050000	0.14768	1.885000	0.39678	0.987000	0.38709	0.533000	0.62120	GAA		0.428	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		C	100460404	A	C	100460404	3	2	44	1	0	0	0	0	1	0	0	0	2252	246	9	5	735	5	C4orf17	4	100460404	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	27255142	100460404	90693872	20	4318											
TBCK	93627	broad.mit.edu	37	chr4	107154198	107154198	+	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	aacagttcatcgtactgatgAcagcgaggaatatccacttc	13	10	8	10	2	1	2	1	2	0	0	4	4	2	3	1	1	3	2	1	1	4	4	rs149535149		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr4:107154198A>G	ENST00000273980.5	-	18	1983	c.1536T>C	c.(1534-1536)tgT>tgC	p.C512C	TBCK_ENST00000394706.3_Silent_p.C473C|TBCK_ENST00000432496.2_Silent_p.C512C|TBCK_ENST00000394708.2_Silent_p.C512C|TBCK_ENST00000361687.4_Silent_p.C449C					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CGTACTGATGACAGCGAGGAA	0.363																																						.											0								A	,,,	0,4406		0,0,2203	122	116	118		1536,1536,1419,1347	1.5	1	4	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TBCK	NM_001163435.1,NM_001163436.1,NM_001163437.1,NM_033115.3	,,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,,	512/894,512/894,473/855,449/831	107154198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1536T>C	4.37:g.107154198A>G				Silent	SNP	ENST00000273980.5	37	CCDS54788.1																																																																																				0.363	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		G	107154198	A	G	107154198	2	3	44	1	0	0	0	0	0	0	0	1	15633	273	10	2		2	TBCK	4	107154198	Silent	SNP	A	TCGA-KN-8429-01A-11D-2310-10	6693794	107154198	84000078	21	4319											
TERT	7015	broad.mit.edu	37	chr5	1294102	1294102	+	Frame_Shift_Del	DEL	C	C	-																															ggcccgcgtggtgctggcggCccacggatgggtgggagtgg																										TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr5:1294102delC	ENST00000310581.5	-	2	956	c.899delG	c.(898-900)ggcfs	p.G300fs	TERT_ENST00000296820.5_Frame_Shift_Del_p.G300fs|TERT_ENST00000508104.2_Frame_Shift_Del_p.G300fs|TERT_ENST00000522877.1_5'Flank|TERT_ENST00000334602.6_Frame_Shift_Del_p.G300fs	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	300	Linker.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GTGCTGGCGGCCCACGGATGG	0.677									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													.											0													18	17	17					5																	1294102		2161	4254	6415	SO:0001589	frameshift_variant	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.899delG	5.37:g.1294102delC	ENSP00000309572:p.Gly300fs		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Frame_Shift_Del	DEL	ENST00000310581.5	37	CCDS3861.2																																																																																				0.677	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			-	1294102	C	-	1294102	7	5	44	1	0	1	0	1	0	0	0	0	15761	739	26	0	2559	0	TERT	5	1294102	Frame_Shift_Del	DEL	C	TCGA-KN-8429-01A-11D-2310-10		1294102	179621158	22	4320											
ERAP2	64167	bcgsc.ca	37	chr5	96232568	96232568	+	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	tgtggagcagtctgtcaaatGtaagtcatatgttgggtaac	11	13	12	5	0	3	0	2	0	1	0	3	1	3	1	0	2	2	4	0	2	4	4	rs75364820		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr5:96232568G>A	ENST00000437043.3	+	9	2214		c.e9+1		ERAP2_ENST00000379904.4_Splice_Site|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_Splice_Site	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TCTGTCAAATGTAAGTCATAT	0.323																																						.											0													106	115	112					5																	96232568		2203	4298	6501	SO:0001630	splice_region_variant	64167			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1503+1G>A	5.37:g.96232568G>A			Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Splice_Site	SNP	ENST00000437043.3	37	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690341	0.29962	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	.	.	.	5.01	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6132	0.45434	0.1496:0.0:0.8504:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERAP2	96258324	1.000000	0.71417	0.243000	0.24186	0.446000	0.32137	6.798000	0.75155	0.630000	0.30394	0.563000	0.77884	.		0.323	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	Intron	A	96232568	G	A	96232568	5	1	44	1	0	0	0	0	0	0	1	0	5204	1391	48	4	1534	4	ERAP2	5	96232568	Splice_Site	SNP	G	TCGA-KN-8429-01A-11D-2310-10	94938466	96232568	84682692	23	4321											
RNF145	153830	bcgsc.ca	37	chr5	158630640	158630640	+	5'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	agccatgttgttttttttttTctttttttttttcttggaga	4	27	6	4	0	2	1	0	0	2	1	2	2	2	1	1	1	1	2	1	1	0	12	rs368977591		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr5:158630640T>C	ENST00000424310.2	-	0	345				RNF145_ENST00000521606.2_Missense_Mutation_p.K13E|RNF145_ENST00000518802.1_Missense_Mutation_p.K26E|RNF145_ENST00000520638.1_Missense_Mutation_p.K10E|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.K24E	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttttcttttttttt	0.368																																						.											0													33	36	35					5																	158630640		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-15A>G	5.37:g.158630640T>C			B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.071233	0.00379	.	.	ENSG00000145860	ENST00000274542;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000520638	T;T;T;T;T	0.77489	-1.09;-1.07;-1.07;-1.1;-1.06	1.66	0.33	0.15929	.	4.233800	0.00610	N	0.000418	T	0.52581	0.1743	N	0.08118	0	0.09310	N	0.999996	P;P;P;P;P	0.42584	0.784;0.544;0.544;0.544;0.673	B;B;B;B;B	0.28638	0.092;0.032;0.032;0.032;0.071	T	0.53711	-0.8400	10	0.41790	T	0.15	18.6048	3.7362	0.08511	0.0:0.2254:0.0:0.7746	.	12;13;10;26;24	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1-2	.;.;.;.;.	E	24;12;13;26;10	ENSP00000274542:K24E;ENSP00000430753:K12E;ENSP00000445115:K13E;ENSP00000430955:K26E;ENSP00000429071:K10E	ENSP00000274542:K24E	K	-	1	0	RNF145	158563218	0.030000	0.19436	0.002000	0.10522	0.002000	0.02628	0.517000	0.22832	-0.074000	0.12820	-1.322000	0.01289	AAA		0.368	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		C	158630640	T	C	158630640	1	2	44	0	1	0	0	0	0	0	0	0	13447	1792	62	4		4	RNF145	5	158630640	5'UTR	SNP	T	TCGA-KN-8429-01A-11D-2310-10	62398072	158630640	22284620	24	4322											
ELMO1	9844	broad.mit.edu	37	chr7	37136306	37136306	+	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	aagggacattcatgcttgtcTtctcgactactgttctcaag	9	14	8	10	1	4	0	2	0	3	0	6	2	4	1	0	1	2	2	0	1	3	5			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr7:37136306T>C	ENST00000310758.4	-	15	1865	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E	ELMO1_ENST00000442504.1_Silent_p.E406E|ELMO1_ENST00000448602.1_Silent_p.E406E|ELMO1_ENST00000341056.3_Silent_p.E108E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	406	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CATGCTTGTCTTCTCGACTAC	0.408																																						.											0													177	142	154					7																	37136306		2203	4300	6503	SO:0001819	synonymous_variant	9844			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.1218A>G	7.37:g.37136306T>C			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	T	9.607	1.130145	0.21041	.	.	ENSG00000155849	ENST00000433246	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	T	0.70762	0.3261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70510	-0.4852	4	.	.	.	.	14.9674	0.71204	0.0:0.0:0.0:1.0	.	.	.	.	R	186	.	.	K	-	2	0	ELMO1	37102831	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.469000	0.22067	1.998000	0.58463	0.460000	0.39030	AAG		0.408	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		C	37136306	T	C	37136306	2	2	44	1	0	0	0	0	0	0	0	1	5065	1606	56	2		2	ELMO1	7	37136306	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10		37136306	122002357	25	4323											
ATP6V0A4	50617	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr7	138437565	138437566	+	Missense_Mutation	DNP	CT	CT	GA																															agcaggcgctggcggtgagaCtctgtttgtgttatgaccta																										TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr7:138437565_138437566CT>GA	ENST00000310018.2	-	11	1115_1116	c.833_834AG>TC	c.(832-834)gAG>gTC	p.E278V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E278V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E278V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	278					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|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 part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCGGTGAGACTCTGTTTGTGT	0.495																																						.											0																																										SO:0001583	missense	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.833_834delinsGA	7.37:g.138437565_138437566delinsGA	ENSP00000308122:p.Glu278Val		A4D1R4|A8KA80|Q32M47	Missense_Mutation	DNP	ENST00000310018.2	37	CCDS5849.1																																																																																				0.495	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		GA	138437566	CT	GA	138437565	3	3	44	1	0	0	0	0	1	0	0	0	1170	564	20	5	1736	5	ATP6V0A4	7	138437565	Missense_Mutation	DNP	CT	TCGA-KN-8429-01A-11D-2310-10	101301259	138437565	20701098	26	4324	102	2									
ATP6V0A4	50617	bcgsc.ca	37	chr7	138437566	138437566	+	Missense_Mutation	SNP	T	T	A																															gcaggcgctggcggtgagacTctgtttgtgttatgacctat																										TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr7:138437566T>A	ENST00000310018.2	-	11	1115	c.833A>T	c.(832-834)gAg>gTg	p.E278V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E278V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E278V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	278					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|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 part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCGGTGAGACTCTGTTTGTGT	0.498																																						.											0													61	57	59					7																	138437566		2203	4300	6503	SO:0001583	missense	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.833A>T	7.37:g.138437566T>A	ENSP00000308122:p.Glu278Val		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777405	0.90195	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.87256	-2.23;-2.23;-2.23	5.49	5.49	0.81192	.	0.152547	0.47455	D	0.000235	D	0.93966	0.8068	M	0.85859	2.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94767	0.7941	10	0.72032	D	0.01	-28.8362	15.8766	0.79170	0.0:0.0:0.0:1.0	.	278	Q9HBG4	VPP4_HUMAN	V	278	ENSP00000308122:E278V;ENSP00000376774:E278V;ENSP00000253856:E278V	ENSP00000308122:E278V	E	-	2	0	ATP6V0A4	138088106	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	6.134000	0.71689	2.208000	0.71279	0.533000	0.62120	GAG		0.498	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		A	138437566	T	A	138437566	3	1	44	1	0	0	0	0	1	0	0	0	1170	1551	54	5	1737	5	ATP6V0A4	7	138437566	Missense_Mutation	SNP	T	TCGA-KN-8429-01A-11D-2310-10	1	138437566	20701097	27	4325	102	2									
MNX1	3110	hgsc.bcm.edu;bcgsc.ca	37	chr7	156799223	156799223	+	Missense_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	cacctcgaagcgcttgggccGcgacaggtacttgttgagct	7	9	13	12	4	0	1	0	1	0	0	1	3	0	1	2	2	3	4	2	2	2	4			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr7:156799223G>A	ENST00000252971.6	-	2	1102	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	MNX1_ENST00000543409.1_Missense_Mutation_p.R56W|MNX1_ENST00000469500.1_Intron|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	268					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)		CGCTTGGGCCGCGACAGGTAC	0.697																																						.											0													44	43	43					7																	156799223		2202	4300	6502	SO:0001583	missense	3110			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.802C>T	7.37:g.156799223G>A	ENSP00000252971:p.Arg268Trp		F5H401|Q9Y648	Missense_Mutation	SNP	ENST00000252971.6	37	CCDS34788.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824984	0.71143	.	.	ENSG00000130675	ENST00000252971;ENST00000543409;ENST00000542972;ENST00000428439	D;D;D	0.96459	-4.02;-4.02;-4.02	3.96	0.905	0.19307	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.36972	U	0.002313	D	0.98479	0.9493	H	0.95850	3.73	0.42035	D	0.991044	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.995	D	0.98607	1.0661	10	0.87932	D	0	-27.5498	12.5851	0.56412	0.0:0.0:0.4215:0.5785	.	104;268;56	Q9UDY3;P50219;F5H401	.;MNX1_HUMAN;.	W	268;56;98;56	ENSP00000252971:R268W;ENSP00000438552:R56W;ENSP00000401158:R56W	ENSP00000252971:R268W	R	-	1	2	MNX1	156491984	0.467000	0.25831	0.845000	0.33349	0.985000	0.73830	0.680000	0.25306	-0.054000	0.13266	-0.276000	0.10085	CGG		0.697	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			A	156799223	G	A	156799223	3	1	44	1	0	0	0	0	1	0	0	0	9679	1086	38	1	411	1	MNX1	7	156799223	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	18361657	156799223	2339440	28	4326											
PPP1R3B	79660	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	8998708	8998708	+	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	cttctcaaatgcgaggttctGaaccttcacagtgcctgcaa	10	11	8	12	1	3	1	2	1	2	0	4	2	3	1	2	1	4	2	2	1	3	3			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr8:8998708G>A	ENST00000310455.3	-	2	604	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	PPP1R3B_ENST00000519699.1_Nonsense_Mutation_p.Q152*|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	152	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GCGAGGTTCTGAACCTTCACA	0.478																																						.											0													188	161	170					8																	8998708		2203	4300	6503	SO:0001587	stop_gained	79660			AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.454C>T	8.37:g.8998708G>A	ENSP00000308318:p.Gln152*		B3KTV3|Q9H812	Nonsense_Mutation	SNP	ENST00000310455.3	37	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	G	38	7.007912	0.97998	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	.	.	.	5.87	5.87	0.94306	.	0.098174	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.5559	12.7339	0.57212	0.0:0.0:0.7426:0.2574	.	.	.	.	X	152	.	ENSP00000308318:Q152X	Q	-	1	0	PPP1R3B	9036118	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.830000	0.69324	2.780000	0.95670	0.561000	0.74099	CAG		0.478	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		A	8998708	G	A	8998708	4	1	44	1	0	0	0	0	0	1	0	0	12372	1299	45	4	407	4	PPP1R3B	8	8998708	Nonsense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10		8998708	137365314	29	4327											
DOCK5	80005	bcgsc.ca	37	chr8	25178551	25178551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataagatttaccttccgacAcaggtcatctcaggaaagta	14	11	7	9	1	2	1	2	0	1	1	4	3	3	2	2	2	1	1	2	2	5	6			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr8:25178551A>G	ENST00000276440.7	+	16	1642	c.1598A>G	c.(1597-1599)cAc>cGc	p.H533R		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	533	DHR-1.				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)		ACCTTCCGACACAGGTCATCT	0.373																																					Pancreas(145;34 1887 3271 10937 30165)	.											0													76	68	71					8																	25178551		2203	4300	6503	SO:0001583	missense	80005				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.1598A>G	8.37:g.25178551A>G	ENSP00000276440:p.His533Arg		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536956	0.85812	.	.	ENSG00000147459	ENST00000276440	T	0.17691	2.26	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	M	0.93375	3.41	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	0.66448	-0.5921	10	0.72032	D	0.01	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	523;308;533	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	R	533	ENSP00000276440:H533R	ENSP00000276440:H533R	H	+	2	0	DOCK5	25234468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.692000	0.91284	2.367000	0.80283	0.528000	0.53228	CAC		0.373	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		G	25178551	A	G	25178551	3	3	44	1	0	0	0	0	1	0	0	0	4690	159	6	2	1660	2	DOCK5	8	25178551	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	16179843	25178551	121185471	30	4328											
FBXO16	157574	broad.mit.edu	37	chr8	28321189	28321189	+	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	aagatgtataaagataacacCcttggaagcttggttgtaaa	16	11	9	5	0	0	2	0	0	0	2	0	3	0	3	1	2	2	4	1	2	8	7			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr8:28321189C>A	ENST00000380254.2	-	4	430	c.282G>T	c.(280-282)agG>agT	p.R94S	FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Missense_Mutation_p.R82S|FBXO16_ENST00000518734.1_Missense_Mutation_p.R82S	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	94	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									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)		AAGATAACACCCTTGGAAGCT	0.483																																						.											0													72	70	70					8																	28321189		2203	4300	6503	SO:0001583	missense	157574			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.282G>T	8.37:g.28321189C>A	ENSP00000369604:p.Arg94Ser		Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630403	0.67015	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673	T;T;T;T	0.53857	1.04;1.04;1.04;0.6	5.63	1.67	0.24075	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	U	0.000000	T	0.48660	0.1512	L	0.35542	1.07	0.80722	D	1	P;P;P	0.50156	0.832;0.932;0.932	P;P;P	0.54965	0.669;0.765;0.765	T	0.44636	-0.9315	10	0.87932	D	0	-46.5598	4.7587	0.13097	0.0:0.4167:0.2818:0.3015	.	82;82;94	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	S	94;82;82;94	ENSP00000369604:R94S;ENSP00000341416:R82S;ENSP00000429687:R82S;ENSP00000429390:R94S	ENSP00000341416:R82S	R	-	3	2	FBXO16	28377108	0.831000	0.29352	0.877000	0.34402	0.977000	0.68977	-0.041000	0.12084	0.088000	0.17205	-0.218000	0.12543	AGG		0.483	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		A	28321189	C	A	28321189	3	1	44	1	0	0	0	0	1	0	0	0	5729	622	22	5	620	5	FBXO16	8	28321189	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	3142638	28321189	118042833	31	4329											
ABCA1	19	hgsc.bcm.edu	37	chr9	107556793	107556794	+	Splice_Site	INS	-	-	A																															attgatattattcagcttctINSaaaaaaaaaaaaaaaaaatg																								rs397938228|rs77663187|rs377469216		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr9:107556793_107556794insA	ENST00000374736.3	-	40	5777		c.e40-2			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						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)	p.?(2)		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)	ATTCAGCTTCTAAAAAAAAAAA	0.406																																						.											2	Unknown(2)	lung(1)|kidney(1)																																								SO:0001630	splice_region_variant	19			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.5383-2->T	9.37:g.107556804_107556804dupA			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	INS	ENST00000374736.3	37	CCDS6762.1																																																																																				0.406	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Intron	A	107556794	-	A	107556793	8	5	44	1	0	1	1	0	0	0	1	0	28	1536	53	0	1448	0	ABCA1	9	107556793	Splice_Site	INS	-	TCGA-KN-8429-01A-11D-2310-10		107556793	33656638	32	4330											
CUL2	8453	hgsc.bcm.edu;bcgsc.ca	37	chr10	35320289	35320289	+	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	tggataacccatgaattaaaCgttttgccagcattcttgcg	11	13	8	9	2	1	1	0	1	1	0	1	2	1	2	2	1	5	2	2	1	4	6			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr10:35320289C>T	ENST00000374748.1	-	15	1638	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	CUL2_ENST00000374751.3_Missense_Mutation_p.R442H|CUL2_ENST00000537177.1_Missense_Mutation_p.R461H|CUL2_ENST00000374746.1_Missense_Mutation_p.R442H|CUL2_ENST00000374742.1_Missense_Mutation_p.R442H|CUL2_ENST00000374749.3_Missense_Mutation_p.R442H|CUL2_ENST00000602371.1_Missense_Mutation_p.R385H			Q13617	CUL2_HUMAN	cullin 2	442					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						ATGAATTAAACGTTTTGCCAG	0.303																																						.											0													84	83	83					10																	35320289		2203	4300	6503	SO:0001583	missense	8453			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.1325G>A	10.37:g.35320289C>T	ENSP00000363880:p.Arg442His		B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914130	0.92178	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.87	4.97	0.65823	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.90198	3.095	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	0.96153	0.9109	10	0.87932	D	0	-18.5811	15.1993	0.73122	0.0:0.9322:0.0:0.0678	.	442;461;442	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	H	442;442;442;442;385;442;461	ENSP00000363883:R442H;ENSP00000363880:R442H;ENSP00000363878:R442H;ENSP00000363881:R442H;ENSP00000363874:R442H;ENSP00000444856:R461H	ENSP00000363874:R442H	R	-	2	0	CUL2	35360295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	1.477000	0.48234	0.591000	0.81541	CGT		0.303	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		T	35320289	C	T	35320289	3	4	44	1	0	0	0	0	1	0	0	0	4055	536	19	1	944	1	CUL2	10	35320289	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10		35320289	100214458	33	4331											
TDRD1	56165	broad.mit.edu	37	chr10	115973824	115973824	+	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	acagtagatgttgtggtctgTgtgatatatagtcctggaga	10	14	13	4	0	1	3	0	1	1	2	2	4	2	3	1	2	0	2	1	2	4	5			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr10:115973824T>C	ENST00000369280.1	+	16	2623	c.2163T>C	c.(2161-2163)tgT>tgC	p.C721C	TDRD1_ENST00000251864.2_Silent_p.C721C|TDRD1_ENST00000369281.2_Silent_p.C664C|TDRD1_ENST00000422662.1_Silent_p.C325C|TDRD1_ENST00000369282.1_Silent_p.C721C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	721					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)		TTGTGGTCTGTGTGATATATA	0.373																																						.											0													281	261	268					10																	115973824		2203	4300	6503	SO:0001819	synonymous_variant	56165			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.2163T>C	10.37:g.115973824T>C			A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37																																																																																					0.373	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			C	115973824	T	C	115973824	2	2	44	1	0	0	0	0	0	0	0	1	15727	1702	59	2		2	TDRD1	10	115973824	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10	80653535	115973824	19560923	34	4332											
ANO9	338440	broad.mit.edu	37	chr11	421030	421030	+	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	gaagaggtccatcatgcagcCgctggcgtggcactgcgggg	7	6	17	11	3	1	1	1	0	0	1	2	2	2	1	2	5	3	3	2	5	1	0			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:421030C>T	ENST00000332826.6	-	17	1489	c.1405G>A	c.(1405-1407)Ggc>Agc	p.G469S		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	469					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						ATCATGCAGCCGCTGGCGTGG	0.657																																						.											0													25	27	27					11																	421030		2201	4293	6494	SO:0001583	missense	338440			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.1405G>A	11.37:g.421030C>T	ENSP00000332788:p.Gly469Ser		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335785	0.95758	.	.	ENSG00000185101	ENST00000332826	T	0.71579	-0.58	3.99	3.99	0.46301	.	0.217963	0.38548	N	0.001644	D	0.85279	0.5660	M	0.85299	2.745	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88270	0.2929	10	0.62326	D	0.03	.	16.4677	0.84087	0.0:1.0:0.0:0.0	.	170;469	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	S	469	ENSP00000332788:G469S	ENSP00000332788:G469S	G	-	1	0	ANO9	411030	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.818000	0.62657	1.946000	0.56461	0.306000	0.20318	GGC		0.657	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		T	421030	C	T	421030	3	4	44	1	0	0	0	0	1	0	0	0	704	652	23	1	971	1	ANO9	11	421030	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10		421030	134585486	35	4333											
MUC6	4588	broad.mit.edu	37	chr11	1018550	1018551	+	Frame_Shift_Ins	INS	-	-	G																															cagtgacaggacctgtggaaINSgggacgggactccccgccgt																										TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:1018550_1018551insG	ENST00000421673.2	-	31	4300_4301	c.4250_4251insC	c.(4249-4251)cctfs	p.P1417fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1417	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)		GACCTGTGGAAGGGACGGGACT	0.559																																						.											0																																										SO:0001589	frameshift_variant	4588			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.4251dupC	11.37:g.1018553_1018553dupG	ENSP00000406861:p.Pro1417fs		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	ENST00000421673.2	37	CCDS44513.1																																																																																				0.559	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1018551	-	G	1018550	7	5	44	1	0	1	1	0	0	0	0	0	9980	59	3	0	3080	0	MUC6	11	1018550	Frame_Shift_Ins	INS	-	TCGA-KN-8429-01A-11D-2310-10	597520	1018550	133987966	36	4334											
OR52M1	119772	mdanderson.org	37	chr11	4566711	4566711	+	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	gcttgtgacattggcctggaCgcctgcttgggccaaatgtt	6	12	13	10	1	0	1	0	1	0	0	0	2	0	2	3	3	1	3	3	3	1	4	rs2709182	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:4566711C>T	ENST00000360213.1	+	1	291	c.291C>T	c.(289-291)gaC>gaT	p.D97D		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCCTGGACGCCTGCTTGG	0.512													T|||	2190	0.4373	0.5174	0.3444	5008	,	,		21627	0.2639		0.492	False		,,,				2504	0.5174					.											0								T		2223,2179	585.3+/-386.2	556,1111,534	164	148	153		291	4.7	1	11	dbSNP_100	153	4454,4142	565.0+/-388.4	1154,2146,998	no	coding-synonymous	OR52M1	NM_001004137.1		1710,3257,1532	TT,TC,CC		48.1852,49.5002,48.6306		97/318	4566711	6677,6321	2201	4298	6499	SO:0001819	synonymous_variant	119772			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.291C>T	11.37:g.4566711C>T				Silent	SNP	ENST00000360213.1	37	CCDS31353.1																																																																																				0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		T	4566711	C	T	4566711	2	4	44	1	0	0	0	0	0	0	0	1	11126	535	19	1		1	OR52M1	11	4566711	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	3548161	4566711	130439805	37	4335											
ANO3	63982	mdanderson.org	37	chr11	26569053	26569053	+	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	gcagcaattgttggtttgtgCgttttcttctatggattatt	6	20	10	5	1	2	0	0	0	2	0	2	1	2	1	0	2	2	5	0	2	3	9	rs201539223		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:26569053C>T	ENST00000256737.3	+	12	2097	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Silent_p.C269C|ANO3_ENST00000537978.1_Silent_p.C399C|ANO3_ENST00000525139.1_Silent_p.C399C	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	415					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						TTGGTTTGTGCGTTTTCTTCT	0.368													C|||	1	0.000199681	0	0.0014	5008	,	,		17646	0		0	False		,,,				2504	0					.											0													320	287	298					11																	26569053		2203	4300	6503	SO:0001819	synonymous_variant	63982			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.1245C>T	11.37:g.26569053C>T			B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																				0.368	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		T	26569053	C	T	26569053	2	4	44	1	0	0	0	0	0	0	0	1	698	776	27	1		1	ANO3	11	26569053	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	22002342	26569053	108437463	38	4336											
OR5D18	219438	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	55587779	55587779	+	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	ttatgcgttcattgttgtaaCcatcctcaagatgcgttcag	9	15	8	9	2	3	1	3	0	0	1	4	1	4	1	2	0	3	4	2	0	3	6			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:55587779C>T	ENST00000333976.4	+	1	694	c.674C>T	c.(673-675)aCc>aTc	p.T225I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	225						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)				ATTGTTGTAACCATCCTCAAG	0.488																																						.											0													171	141	151					11																	55587779		2200	4296	6496	SO:0001583	missense	219438			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.674C>T	11.37:g.55587779C>T	ENSP00000335025:p.Thr225Ile		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	5.664	0.307208	0.10733	.	.	ENSG00000186119	ENST00000333976	T	0.00193	8.58	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001058	T	0.00384	0.0012	M	0.85859	2.78	0.09310	N	1	P	0.37330	0.59	B	0.43575	0.424	T	0.18903	-1.0322	10	0.72032	D	0.01	-52.0107	12.7851	0.57500	0.1644:0.8356:0.0:0.0	.	225	Q8NGL1	OR5DI_HUMAN	I	225	ENSP00000335025:T225I	ENSP00000335025:T225I	T	+	2	0	OR5D18	55344355	0.005000	0.15991	0.123000	0.21794	0.068000	0.16541	2.037000	0.41174	2.402000	0.81655	0.567000	0.79289	ACC		0.488	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		T	55587779	C	T	55587779	3	4	44	1	0	0	0	0	1	0	0	0	11157	507	18	3	676	3	OR5D18	11	55587779	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	29018726	55587779	79418737	39	4337											
SF1	7536	mdanderson.org	37	chr11	64533401	64533401	+	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	gaagggtccatgggaggcggAggaggagggggcggggcata	9	3	24	5	2	0	0	0	0	0	0	1	5	1	4	1	10	0	1	1	10	2	1			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr11:64533401A>C	ENST00000377390.3	-	13	2146	c.1809T>G	c.(1807-1809)ccT>ccG	p.P603P	SF1_ENST00000334944.5_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000433274.2_Silent_p.P577P|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000489544.1_5'Flank	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	603	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						TGGGAGGCGGAGGAGGAGGGG	0.726																																						.											0													8	8	8					11																	64533401		2124	4172	6296	SO:0001819	synonymous_variant	7536			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.1809T>G	11.37:g.64533401A>C			B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Silent	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	A	7.114	0.576643	0.13686	.	.	ENSG00000168066	ENST00000413725	.	.	.	4.73	0.919	0.19392	.	.	.	.	.	T	0.42607	0.1210	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	.	1.9493	0.03363	0.4292:0.3236:0.0907:0.1565	.	.	.	.	R	173	.	.	L	-	2	0	SF1	64289977	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.067000	0.30616	-0.091000	0.12440	0.454000	0.30748	CTC		0.726	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		C	64533401	A	C	64533401	2	2	44	1	0	0	0	0	0	0	0	1	14145	291	11	5		5	SF1	11	64533401	Silent	SNP	A	TCGA-KN-8429-01A-11D-2310-10	8945622	64533401	70473115	40	4338											
FGF6	2251	ucsc.edu	37	chr12	4554715	4554715	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccgggacatagtgatgaAcagtttctgtcccagggcca	9	9	11	12	1	1	2	0	2	1	0	3	3	3	3	4	2	1	1	4	2	2	2			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr12:4554715A>G	ENST00000228837.2	-	1	65	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	8					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)			ATAGTGATGAACAGTTTCTGT	0.582																																						.											0													49	56	54					12																	4554715		2203	4300	6503	SO:0001583	missense	2251			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.22T>C	12.37:g.4554715A>G	ENSP00000228837:p.Phe8Leu		Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	A	6.186	0.402488	0.11696	.	.	ENSG00000111241	ENST00000228837	T	0.32753	1.44	5.0	1.03	0.20045	.	0.165360	0.56097	N	0.000034	T	0.08313	0.0207	N	0.01729	-0.75	0.31700	N	0.640804	B	0.02656	0.0	B	0.01281	0.0	T	0.40059	-0.9583	10	0.02654	T	1	.	7.2764	0.26288	0.3464:0.0:0.6536:0.0	.	8	P10767	FGF6_HUMAN	L	8	ENSP00000228837:F8L	ENSP00000228837:F8L	F	-	1	0	FGF6	4424976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.502000	0.53332	0.365000	0.24400	0.459000	0.35465	TTC		0.582	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		G	4554715	A	G	4554715	3	3	44	1	0	0	0	0	1	0	0	0	5856	43	2	2	616	2	FGF6	12	4554715	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		4554715	129297180	41	4339											
DDX11	1663	mdanderson.org	37	chr12	31242416	31242416	+	Missense_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	ctgtgtggacatgcagagaaGcaggcacggtagccactggg	10	6	16	9	1	0	1	0	0	0	1	0	3	0	2	1	4	3	4	1	4	2	1			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr12:31242416G>A	ENST00000407793.2	+	8	1123	c.872G>A	c.(871-873)aGc>aAc	p.S291N	DDX11_ENST00000228264.6_Missense_Mutation_p.S265N|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.S291N|DDX11_ENST00000545668.1_Missense_Mutation_p.S291N|DDX11_ENST00000542838.1_Missense_Mutation_p.S291N	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	291	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)					ATGCAGAGAAGCAGGCACGGT	0.512										Multiple Myeloma(12;0.14)																												.											0													36	44	42					12																	31242416		2203	4300	6503	SO:0001583	missense	1663			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.872G>A	12.37:g.31242416G>A	ENSP00000384703:p.Ser291Asn		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.321428	0.01320	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000228264;ENST00000438391;ENST00000545668;ENST00000350437	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	3.45	0.218	0.15270	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.418647	0.29424	N	0.012196	T	0.35508	0.0934	N	0.02357	-0.585	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.14023	0.01;0.003;0.004	T	0.04165	-1.0972	10	0.12103	T	0.63	.	5.4846	0.16743	0.5522:0.0:0.4478:0.0	.	291;291;291	Q96FC9;Q96FC9-4;Q96FC9-2	DDX11_HUMAN;.;.	N	291;291;265;262;291;291	ENSP00000443426:S291N;ENSP00000384703:S291N;ENSP00000228264:S265N;ENSP00000407646:S262N;ENSP00000440402:S291N;ENSP00000309965:S291N	ENSP00000228264:S265N	S	+	2	0	DDX11	31133683	1.000000	0.71417	0.242000	0.24170	0.022000	0.10575	3.115000	0.50391	0.180000	0.19960	0.505000	0.49811	AGC		0.512	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31242416	G	A	31242416	3	1	44	1	0	0	0	0	1	0	0	0	4343	971	34	4	898	4	DDX11	12	31242416	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	26687701	31242416	102609479	42	4340											
RPH3A	22895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	113333605	113333605	+	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	tttttctatgacatcaaacaCagtgacctggcaaagaagtc	14	11	7	9	0	2	3	1	2	1	1	3	3	2	3	1	1	1	1	1	1	4	3			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr12:113333605C>G	ENST00000389385.4	+	21	2378	c.1881C>G	c.(1879-1881)caC>caG	p.H627Q	RPH3A_ENST00000447659.2_Missense_Mutation_p.H578Q|RPH3A_ENST00000543106.2_Missense_Mutation_p.H627Q|RPH3A_ENST00000551052.1_Missense_Mutation_p.H623Q|RPH3A_ENST00000415485.3_Missense_Mutation_p.H627Q|RPH3A_ENST00000548866.1_Missense_Mutation_p.H578Q|RPH3A_ENST00000420983.2_Missense_Mutation_p.H627Q|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	627	C2 2. {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)		ACATCAAACACAGTGACCTGG	0.468																																						.											0													97	79	85					12																	113333605		2203	4300	6503	SO:0001583	missense	22895			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.1881C>G	12.37:g.113333605C>G	ENSP00000374036:p.His627Gln		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466660	0.63625	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.42	-1.8	0.07907	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000007	T	0.65903	0.2736	N	0.25789	0.76	0.52099	D	0.999943	D;P;D	0.89917	1.0;0.794;0.999	D;P;D	0.74348	0.983;0.53;0.969	T	0.61574	-0.7035	10	0.29301	T	0.29	.	13.0375	0.58881	0.0:0.6808:0.0:0.3192	.	578;627;623	F8VP47;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	Q	627;627;578;623;627;578;627;279	ENSP00000440384:H627Q;ENSP00000374036:H627Q;ENSP00000413254:H578Q;ENSP00000448297:H623Q;ENSP00000405357:H627Q;ENSP00000450347:H578Q;ENSP00000408889:H627Q	ENSP00000374036:H627Q	H	+	3	2	RPH3A	111817988	0.990000	0.36364	0.969000	0.41365	0.996000	0.88848	0.331000	0.19733	-0.114000	0.11936	-0.137000	0.14449	CAC		0.468	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		G	113333605	C	G	113333605	3	3	44	1	0	0	0	0	1	0	0	0	13551	477	17	5	1955	5	RPH3A	12	113333605	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	82091189	113333605	20518290	43	4341											
TUBA3C	7278	mdanderson.org	37	chr13	19751292	19751292	+	Silent	SNP	T	T	C																															tcgtggtaggccttctcggcTgagatgaccggggcgtaggt																								rs147482964	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	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																																						.											0													131	119	123					13																	19751292		2203	4300	6503	SO:0001819	synonymous_variant	7278			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			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				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	44	1	0	0	0	0	0	0	0	1	16743	1567	55	2		2	TUBA3C	13	19751292	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10		19751292	95418586	44	4342	103	2									
TUBA3C	7278	mdanderson.org	37	chr13	19751301	19751301	+	Silent	SNP	C	C	T																															gccttctcggctgagatgacCggggcgtaggtggccagggg																								rs140548354		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr13:19751301C>T	ENST00000400113.3	-	4	926	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	274					'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)		CTGAGATGACCGGGGCGTAGG	0.607																																						.											0													123	114	117					13																	19751301		2203	4300	6503	SO:0001819	synonymous_variant	7278			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.822G>A	13.37:g.19751301C>T			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751301	C	T	19751301	2	4	44	1	0	0	0	0	0	0	0	1	16743	639	23	1		1	TUBA3C	13	19751301	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	9	19751301	95418577	45	4343	103	2									
MLNR	2862	broad.mit.edu	37	chr13	49794805	49794805	+	Frame_Shift_Del	DEL	G	G	-																															ggtgttcgggccgctgctctGccgcctgtccctctacgtgg																										TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr13:49794805delG	ENST00000218721.1	+	1	332	c.332delG	c.(331-333)tgcfs	p.C111fs	MLNR_ENST00000398307.1_Frame_Shift_Del_p.C111fs	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	111					digestion (GO:0007586)|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)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCGCTGCTCTGCCGCCTGTCC	0.706																																						.											0													20	18	19					13																	49794805		2199	4298	6497	SO:0001589	frameshift_variant	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.332delG	13.37:g.49794805delG	ENSP00000218721:p.Cys111fs			Frame_Shift_Del	DEL	ENST00000218721.1	37	CCDS9414.1																																																																																				0.706	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		-	49794805	G	-	49794805	7	5	44	1	0	1	0	1	0	0	0	0	9632	1319	46	0	334	0	MLNR	13	49794805	Frame_Shift_Del	DEL	G	TCGA-KN-8429-01A-11D-2310-10	30043504	49794805	65375073	46	4344											
DACT1	51339	mdanderson.org	37	chr14	59112179	59112179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctgtggctgtgcagAgcccaatgtttctcctttgt	5	16	10	10	0	2	1	1	0	1	1	3	1	2	1	2	1	3	4	2	1	1	3			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr14:59112179A>G	ENST00000335867.4	+	4	862	c.838A>G	c.(838-840)Agc>Ggc	p.S280G	DACT1_ENST00000556859.1_5'UTR|DACT1_ENST00000395153.3_Missense_Mutation_p.S243G|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000541264.2_5'UTR			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	280					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCTGTGCAGAGCCCAATGTT	0.502																																						.											0													144	132	136					14																	59112179		2203	4300	6503	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.838A>G	14.37:g.59112179A>G	ENSP00000337439:p.Ser280Gly		A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289521	0.80914	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.69306	-0.39;-0.39	5.71	5.71	0.89125	.	0.101407	0.64402	D	0.000001	D	0.83184	0.5199	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	D	0.85748	0.1341	10	0.72032	D	0.01	-21.4663	15.979	0.80091	1.0:0.0:0.0:0.0	.	243;280	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	G	243;280	ENSP00000378582:S243G;ENSP00000337439:S280G	ENSP00000337439:S280G	S	+	1	0	DACT1	58181932	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.122000	0.77169	2.182000	0.69389	0.460000	0.39030	AGC		0.502	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		G	59112179	A	G	59112179	3	3	44	1	0	0	0	0	1	0	0	0	4222	304	11	2	852	2	DACT1	14	59112179	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		59112179	48237361	47	4345											
ENTPD5	957	broad.mit.edu	37	chr14	74443082	74443082	+	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	ctccccctaggtccaaggtcCccacagtctcctgtctgtgg	5	10	9	17	0	2	0	0	0	2	0	6	0	5	0	6	3	0	0	6	3	2	1	rs375628237		TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr14:74443082C>T	ENST00000334696.6	-	9	906	c.587G>A	c.(586-588)gGg>gAg	p.G196E	ENTPD5_ENST00000557325.1_Missense_Mutation_p.G196E	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	196					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTCCAAGGTCCCCACAGTCTC	0.542																																						.											0								C	GLU/GLY	2,4404	4.2+/-10.8	0,2,2201	102	87	92		587	5.5	1	14		92	0,8600		0,0,4300	no	missense	ENTPD5	NM_001249.2	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	196/429	74443082	2,13004	2203	4300	6503	SO:0001583	missense	957			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.587G>A	14.37:g.74443082C>T	ENSP00000335246:p.Gly196Glu		A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438026	0.96168	4.54E-4	0.0	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284	T;T;T	0.23552	1.9;1.9;1.9	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77392	-0.2605	10	0.87932	D	0	-3.7302	19.6556	0.95837	0.0:1.0:0.0:0.0	.	196;196	O75356;G3V4I0	ENTP5_HUMAN;.	E	196	ENSP00000451810:G196E;ENSP00000335246:G196E;ENSP00000451591:G196E	ENSP00000335246:G196E	G	-	2	0	ENTPD5	73512835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.687000	0.74552	2.882000	0.98803	0.655000	0.94253	GGG		0.542	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		T	74443082	C	T	74443082	3	4	44	1	0	0	0	0	1	0	0	0	5142	623	22	3	731	3	ENTPD5	14	74443082	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	15330903	74443082	32906458	48	4346											
KIAA1409	57578	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	93963546	93963546	+	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	tgggccttcacaagtgaagcCtccagctgtgcaaatgcttt	9	11	10	11	0	1	1	1	1	0	0	2	1	2	1	3	1	4	3	3	1	3	2			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr14:93963546C>A	ENST00000393151.2	+	7	812	c.812C>A	c.(811-813)cCt>cAt	p.P271H	UNC79_ENST00000553484.1_Missense_Mutation_p.P271H|UNC79_ENST00000256339.4_Missense_Mutation_p.P94H|UNC79_ENST00000555664.1_Missense_Mutation_p.P271H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	271					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						CAAGTGAAGCCTCCAGCTGTG	0.438																																						.											0													98	91	93					14																	93963546		2203	4300	6503	SO:0001583	missense	57578			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.812C>A	14.37:g.93963546C>A	ENSP00000376858:p.Pro271His		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.944488	0.73672	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18016	2.25;2.24;2.24;2.24	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01824	-1.1266	10	0.44086	T	0.13	-14.0484	19.3549	0.94408	0.0:1.0:0.0:0.0	.	271	C9JQL1	.	H	94;271;271;271;271	ENSP00000256339:P94H;ENSP00000450868:P271H;ENSP00000451360:P271H;ENSP00000376858:P271H	ENSP00000256339:P94H	P	+	2	0	KIAA1409	93033299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.569000	0.86673	0.563000	0.77884	CCT		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		A	93963546	C	A	93963546	3	1	44	1	0	0	0	0	1	0	0	0	8230	681	24	5	295	5	KIAA1409	14	93963546	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	19520464	93963546	13385994	49	4347											
EPB42	2038	broad.mit.edu	37	chr15	43499534	43499534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacagcacttccagaccAcacatgaggcatttatggca	12	8	7	14	0	1	2	1	1	0	1	2	2	2	2	3	2	1	3	3	2	1	3			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr15:43499534A>G	ENST00000441366.2	-	9	1406	c.1181T>C	c.(1180-1182)gTg>gCg	p.V394A	EPB42_ENST00000300215.3_Missense_Mutation_p.V424A|EPB42_ENST00000540029.1_Missense_Mutation_p.V316A|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	394					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)		CTTCCAGACCACACATGAGGC	0.562																																						.											0													111	79	90					15																	43499534		2203	4299	6502	SO:0001583	missense	2038			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.1181T>C	15.37:g.43499534A>G	ENSP00000396616:p.Val394Ala		Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	A	9.956	1.221440	0.22457	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366	T;T;T	0.54279	0.58;0.58;0.58	6.02	3.62	0.41486	.	0.538253	0.21503	N	0.073494	T	0.45337	0.1337	M	0.63208	1.945	0.28107	N	0.93115	B;B;B;B	0.20052	0.041;0.007;0.023;0.007	B;B;B;B	0.19946	0.027;0.005;0.011;0.005	T	0.39272	-0.9622	10	0.46703	T	0.11	-14.4242	5.6677	0.17704	0.7642:0.0:0.0833:0.1525	.	316;394;424;394	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	A	424;316;394	ENSP00000300215:V424A;ENSP00000444699:V316A;ENSP00000396616:V394A	ENSP00000300215:V424A	V	-	2	0	EPB42	41286826	0.084000	0.21492	0.995000	0.50966	0.008000	0.06430	1.606000	0.36826	2.299000	0.77371	0.528000	0.53228	GTG		0.562	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		G	43499534	A	G	43499534	3	3	44	1	0	0	0	0	1	0	0	0	5158	159	6	2	914	2	EPB42	15	43499534	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		43499534	59031858	50	4348											
THSD4	79875	mdanderson.org	37	chr15	72040774	72040774	+	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	tttcagtgctcggtgccctgCggcgtgggacagaggacccg	5	8	16	12	4	1	1	1	0	0	1	2	3	1	3	2	4	3	1	2	4	0	1	rs1872056	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr15:72040774C>T	ENST00000355327.3	+	14	2390	c.2256C>T	c.(2254-2256)tgC>tgT	p.C752C	THSD4_ENST00000357769.4_Silent_p.C392C|THSD4_ENST00000261862.6_Silent_p.C752C|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	752	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGTGCCCTGCGGCGTGGGAC	0.562													C|||	998	0.199281	0.3086	0.147	5008	,	,		19695	0.0823		0.2644	False		,,,				2504	0.1421					.											0								C		1281,3079		190,901,1089	121	135	130		2256	-8.4	0.6	15	dbSNP_92	130	2145,6401		312,1521,2440	no	coding-synonymous	THSD4	NM_024817.2		502,2422,3529	TT,TC,CC		25.0995,29.3807,26.5458		752/1019	72040774	3426,9480	2180	4273	6453	SO:0001819	synonymous_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2256C>T	15.37:g.72040774C>T			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																				0.562	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		T	72040774	C	T	72040774	2	4	44	1	0	0	0	0	0	0	0	1	15875	776	27	1		1	THSD4	15	72040774	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	28541240	72040774	30490618	51	4349											
RASGRF1	5923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	79324635	79324635	+	Missense_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	ttggtagatgttgagcatggGcagcaggatgtcaaataggt	11	11	15	4	0	1	2	1	1	0	1	1	3	1	3	0	4	2	5	0	4	3	4			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr15:79324635G>A	ENST00000419573.3	-	7	1256	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P328S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	328	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						TTGAGCATGGGCAGCAGGATG	0.587																																						.											0													159	98	118					15																	79324635		2196	4293	6489	SO:0001583	missense	5923			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.982C>T	15.37:g.79324635G>A	ENSP00000405963:p.Pro328Ser		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538020	0.85917	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.62232	0.04	4.35	4.35	0.52113	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	L	0.46157	1.445	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	0.75752	-0.3207	10	0.72032	D	0.01	.	14.4226	0.67193	0.0:0.0:1.0:0.0	.	328;328;328;328	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	S	328	ENSP00000405963:P328S	ENSP00000378224:P328S	P	-	1	0	RASGRF1	77111690	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.418000	0.97395	2.258000	0.74832	0.491000	0.48974	CCC		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79324635	G	A	79324635	3	1	44	1	0	0	0	0	1	0	0	0	13072	1203	42	3	2927	3	RASGRF1	15	79324635	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	7283861	79324635	23206757	52	4350											
LINS1	55180	mdanderson.org	37	chr15	101110265	101110265	+	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	ggattatagccattttcatgTgtgtgatggtcccacatttc	8	16	9	8	0	1	1	1	1	0	0	3	2	2	2	2	2	1	0	2	2	2	5	rs2411836	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr15:101110265T>A	ENST00000314742.8	-	7	1674	c.1452A>T	c.(1450-1452)acA>acT	p.T484T	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	484								p.T484T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CATTTTCATGTGTGTGATGGT	0.353													T|||	1560	0.311502	0.2375	0.2493	5008	,	,		17495	0.246		0.4513	False		,,,				2504	0.3793					.											1	Substitution - coding silent(1)	stomach(1)						T		1242,3164	413.7+/-336.6	157,928,1118	56	55	55		1452	-0.9	0.8	15	dbSNP_100	55	4032,4566	526.5+/-381.0	961,2110,1228	no	coding-synonymous	LINS	NM_001040616.2		1118,3038,2346	AA,AT,TT		46.8946,28.1888,40.5568		484/758	101110265	5274,7730	2203	4299	6502	SO:0001819	synonymous_variant	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1452A>T	15.37:g.101110265T>A			Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	CCDS10385.1																																																																																				0.353	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		A	101110265	T	A	101110265	2	1	44	1	0	0	0	0	0	0	0	1	8818	1683	59	5		5	LINS1	15	101110265	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10	21785630	101110265	1421127	53	4351											
DHX8	1659	broad.mit.edu	37	chr17	41585844	41585844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgctcttcccagtgagAtgcagacccgaatctttgac	9	11	8	13	1	3	3	0	2	3	2	4	5	4	3	2	0	2	2	2	0	1	2			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr17:41585844A>G	ENST00000262415.3	+	16	2530	c.2458A>G	c.(2458-2460)Atg>Gtg	p.M820V	DHX8_ENST00000540306.1_Missense_Mutation_p.M820V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	820	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCCCAGTGAGATGCAGACCCG	0.478																																					NSCLC(56;1548 1661 49258 49987)	.											0													115	105	109					17																	41585844		2203	4300	6503	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2458A>G	17.37:g.41585844A>G	ENSP00000262415:p.Met820Val			Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868390	0.51588	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.74737	-0.87;-0.87	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	N	0.12611	0.24	0.80722	D	1	P;B	0.34629	0.46;0.091	B;B	0.40329	0.279;0.326	T	0.66296	-0.5959	10	0.42905	T	0.14	.	15.0989	0.72256	1.0:0.0:0.0:0.0	.	820;820	F5H658;Q14562	.;DHX8_HUMAN	V	820	ENSP00000437886:M820V;ENSP00000262415:M820V	ENSP00000262415:M820V	M	+	1	0	DHX8	38941370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.237000	0.95368	2.162000	0.67917	0.459000	0.35465	ATG		0.478	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			G	41585844	A	G	41585844	3	3	44	1	0	0	0	0	1	0	0	0	4515	333	12	4	2520	4	DHX8	17	41585844	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10		41585844	39609366	54	4352											
CRHR1	1394	hgsc.bcm.edu	37	chr17	43910515	43910515	+	Missense_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	gccttctaggtgctggtttgGcaaaaggcctggggtgtaca	7	11	15	8	0	1	0	0	0	1	0	1	0	1	0	2	6	2	4	2	6	4	4			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr17:43910515G>A	ENST00000398285.3	+	10	869	c.869G>A	c.(868-870)gGc>gAc	p.G290D	CRHR1_ENST00000314537.5_Missense_Mutation_p.G261D|CRHR1_ENST00000352855.5_Missense_Mutation_p.G221D|CRHR1_ENST00000577353.1_Missense_Mutation_p.G261D|CRHR1_ENST00000339069.5_Missense_Mutation_p.G160D|CRHR1_ENST00000293493.7_Missense_Mutation_p.G86D	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	290					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)		TGCTGGTTTGGCAAAAGGCCT	0.607																																					Ovarian(110;57 1568 10207 38216 49865)	.											0													124	130	128					17																	43910515		1993	4160	6153	SO:0001583	missense	1394			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.869G>A	17.37:g.43910515G>A	ENSP00000381333:p.Gly290Asp		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130090	0.56721	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.2	5.2	0.72013	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	N	0.14661	0.345	0.80722	D	1	P;B;P;P;P;P	0.47034	0.889;0.333;0.536;0.877;0.48;0.819	P;P;B;P;B;B	0.51742	0.618;0.449;0.306;0.678;0.276;0.398	T	0.06899	-1.0801	10	0.11182	T	0.66	.	16.2316	0.82347	0.0:0.0:1.0:0.0	.	261;290;160;160;221;261	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	D	86;160;290;261;261;221	ENSP00000293493:G86D;ENSP00000340522:G160D;ENSP00000381333:G290D;ENSP00000326060:G261D;ENSP00000344068:G221D	ENSP00000293493:G86D	G	+	2	0	CRHR1	41266296	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.427000	0.82271	0.561000	0.74099	GGC		0.607	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			A	43910515	G	A	43910515	3	1	44	1	0	0	0	0	1	0	0	0	3871	1203	42	3	907	3	CRHR1	17	43910515	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10	2324671	43910515	37284695	55	4353											
USP32	84669	mdanderson.org	37	chr17	58292024	58292024	+	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	gcatatcttcctctttaatgCgcagcctttgagatagatat	10	15	7	9	1	2	2	0	1	2	2	3	3	3	2	2	0	2	2	2	0	4	7	rs571048538	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr17:58292024C>T	ENST00000300896.4	-	17	2173	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	USP32_ENST00000592339.1_Missense_Mutation_p.R330H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	660					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)			CTCTTTAATGCGCAGCCTTTG	0.408													C|||	3	0.000599042	0.0023	0	5008	,	,		19451	0		0	False		,,,				2504	0					.											0													41	38	39					17																	58292024		2201	4295	6496	SO:0001583	missense	84669			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.1979G>A	17.37:g.58292024C>T	ENSP00000300896:p.Arg660His		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530108	0.96446	.	.	ENSG00000170832	ENST00000300896	T	0.50001	0.76	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.48642	1.525	0.80722	D	1	P	0.50617	0.937	B	0.41440	0.357	T	0.49113	-0.8973	10	0.49607	T	0.09	.	19.155	0.93506	0.0:1.0:0.0:0.0	.	660	Q8NFA0	UBP32_HUMAN	H	660	ENSP00000300896:R660H	ENSP00000300896:R660H	R	-	2	0	USP32	55646806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.539000	0.85634	0.650000	0.86243	CGC		0.408	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		T	58292024	C	T	58292024	3	4	44	1	0	0	0	0	1	0	0	0	17060	768	27	1	2907	1	USP32	17	58292024	Missense_Mutation	SNP	C	TCGA-KN-8429-01A-11D-2310-10	14381509	58292024	22903186	56	4354											
ADCYAP1	116	mdanderson.org	37	chr18	907675	907675	+	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	cgcaggccagaggaagaggcGtacggcgaggacggaaaccc	12	1	17	11	5	0	2	0	0	0	2	0	6	0	5	2	6	2	2	2	6	3	1	rs8192597	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr18:907675G>A	ENST00000579794.1	+	2	404	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.2_ENST00000577358.1_RNA|ADCYAP1_ENST00000450565.3_Silent_p.A42A	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	42					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGGAAGAGGCGTACGGCGAGG	0.726													G|||	3516	0.702077	0.5061	0.7622	5008	,	,		8604	0.8492		0.6889	False		,,,				2504	0.7863					.											0								G	,	2350,1996		679,992,502	9	11	11		126,126	-3.4	1	18	dbSNP_117	11	6028,2476		2167,1694,391	no	coding-synonymous,coding-synonymous	ADCYAP1	NM_001099733.1,NM_001117.3	,	2846,2686,893	AA,AG,GG		29.1157,45.9273,34.8016	,	42/177,42/177	907675	8378,4472	2173	4252	6425	SO:0001819	synonymous_variant	116			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"Endogenous ligands"	241	protein-coding gene	gene with protein product	"prepro-PACAP"	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.126G>A	18.37:g.907675G>A			B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	CCDS11825.1																																																																																				0.726	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		A	907675	G	A	907675	2	1	44	1	0	0	0	0	0	0	0	1	302	1132	40	1		1	ADCYAP1	18	907675	Silent	SNP	G	TCGA-KN-8429-01A-11D-2310-10		907675	77169573	57	4355											
ANKRD30B	374860	broad.mit.edu	37	chr18	14837637	14837637	+	Frame_Shift_Del	DEL	G	G	-																															agatgcccacatcagaattaGgaagaaaagaagatacaaaa																										TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr18:14837637delG	ENST00000358984.4	+	30	2773	c.2593delG	c.(2593-2595)ggafs	p.G865fs		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	865										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGAATTAGGAAGAAAAGA	0.264																																						.											0													19	24	23					18																	14837637		690	1579	2269	SO:0001589	frameshift_variant	374860			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.2593delG	18.37:g.14837637delG	ENSP00000351875:p.Gly865fs		B4DGP1|F8WAG3|Q4G175	Frame_Shift_Del	DEL	ENST00000358984.4	37	CCDS54182.1																																																																																				0.264	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		-	14837637	G	-	14837637	7	5	44	1	0	1	0	1	0	0	0	0	659	1001	35	0	2711	0	ANKRD30B	18	14837637	Frame_Shift_Del	DEL	G	TCGA-KN-8429-01A-11D-2310-10	13929962	14837637	63239611	58	4356											
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-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	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																																						.											0													115	104	108					19																	9025604		1962	4161	6123	SO:0001819	synonymous_variant	94025			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			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	44	1	0	0	0	0	0	0	0	1	9973	98	4	4		4	MUC16	19	9025604	Silent	SNP	A	TCGA-KN-8429-01A-11D-2310-10		9025604	50103379	59	4357											
ZNF653	115950	broad.mit.edu;ucsc.edu	37	chr19	11598244	11598244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagtccactgccggggAcaccgctgcctgctgccatg	5	6	12	18	3	0	0	0	0	0	0	1	1	1	1	6	2	4	2	6	2	0	0			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:11598244A>G	ENST00000293771.5	-	4	1170	c.1034T>C	c.(1033-1035)gTc>gCc	p.V345A	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	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)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ACTGCCGGGGACACCGCTGCC	0.652																																					Pancreas(83;980 1446 4542 6441 43352)	.											0													65	55	58					19																	11598244		2203	4300	6503	SO:0001583	missense	115950			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.1034T>C	19.37:g.11598244A>G	ENSP00000293771:p.Val345Ala		Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.176622	0.00312	.	.	ENSG00000161914	ENST00000293771	T	0.10005	2.92	2.93	2.93	0.34026	.	0.686095	0.11916	N	0.517184	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43426	-0.9392	10	0.02654	T	1	-7.9695	6.1699	0.20410	0.1428:0.0:0.8572:0.0	.	345	Q96CK0	ZN653_HUMAN	A	345	ENSP00000293771:V345A	ENSP00000293771:V345A	V	-	2	0	ZNF653	11459244	0.617000	0.27043	0.586000	0.28679	0.056000	0.15407	1.002000	0.29796	0.805000	0.34159	-0.642000	0.03964	GTC		0.652	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		G	11598244	A	G	11598244	3	3	44	1	0	0	0	0	1	0	0	0	18063	275	10	2	837	2	ZNF653	19	11598244	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	2572640	11598244	47530739	60	4358											
OR10H2	26538	mdanderson.org	37	chr19	15839047	15839047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtacctcttcctgtgcgTcctctcagtctccgagatcc	5	13	7	16	2	3	1	1	0	3	1	8	2	6	1	5	0	2	1	5	0	1	2	rs201424847	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:15839047T>C	ENST00000305899.3	+	1	214	c.194T>C	c.(193-195)gTc>gCc	p.V65A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TTCCTGTGCGTCCTCTCAGTC	0.637																																						.											0													234	188	204					19																	15839047		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.194T>C	19.37:g.15839047T>C	ENSP00000306095:p.Val65Ala		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.151	-1.091346	0.01858	.	.	ENSG00000171942	ENST00000305899	T	0.02890	4.12	3.4	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.275578	0.25848	N	0.027919	T	0.01695	0.0054	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49062	-0.8978	10	0.15499	T	0.54	.	5.1985	0.15250	0.2013:0.6781:0.0:0.1206	.	65	O60403	O10H2_HUMAN	A	65	ENSP00000306095:V65A	ENSP00000306095:V65A	V	+	2	0	OR10H2	15700047	0.000000	0.05858	0.937000	0.37676	0.644000	0.38419	0.494000	0.22467	0.427000	0.26145	-0.254000	0.11334	GTC		0.637	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			C	15839047	T	C	15839047	3	2	44	1	0	0	0	0	1	0	0	0	10906	1667	58	2	196	2	OR10H2	19	15839047	Missense_Mutation	SNP	T	TCGA-KN-8429-01A-11D-2310-10	4240803	15839047	43289936	61	4359											
TMEM91	641649	broad.mit.edu	37	chr19	41884219	41884219	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttccccaaagccatggAcagccctagtcttcgtgagc	9	9	10	13	1	1	1	0	1	1	0	3	3	2	2	4	1	3	1	4	1	2	3			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:41884219A>G	ENST00000392002.2	+	2	665	c.5A>G	c.(4-6)gAc>gGc	p.D2G	TMEM91_ENST00000356385.4_Missense_Mutation_p.D2G|TMEM91_ENST00000436170.2_Missense_Mutation_p.D2G|TMEM91_ENST00000413014.2_Missense_Mutation_p.D2G|TMEM91_ENST00000542945.1_Missense_Mutation_p.D2G|TMEM91_ENST00000539627.1_Missense_Mutation_p.D2G|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.D2G|TMEM91_ENST00000447302.2_Missense_Mutation_p.D2G|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000544232.1_Missense_Mutation_p.D2G|TMEM91_ENST00000604123.1_Missense_Mutation_p.D59G|BCKDHA_ENST00000595085.1_Missense_Mutation_p.D2G	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	2					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						AAAGCCATGGACAGCCCTAGT	0.557																																						.											0													66	64	65					19																	41884219		1881	4112	5993	SO:0001583	missense	641649			AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 6"					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.5A>G	19.37:g.41884219A>G	ENSP00000375859:p.Asp2Gly		C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563594	0.45694	.	.	ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000255730	ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385;ENST00000540732	D;D	0.99226	-4.46;-5.59	4.44	4.44	0.53790	.	0.000000	0.41605	D	0.000858	D	0.98557	0.9518	L	0.27053	0.805	0.33346	D	0.570468	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.992;0.992;0.992;0.992;0.981;0.992;0.996	D	0.99780	1.1027	10	0.87932	D	0	.	10.2932	0.43608	1.0:0.0:0.0:0.0	.	2;2;2;2;2;2;2	C9J9D1;C9JZ62;C9K046;Q6P434;F5H5P2;Q6ZNR0;F5GWC9	.;.;.;.;.;TMM91_HUMAN;.	G	2	ENSP00000375859:D2G;ENSP00000443246:D2G	ENSP00000443246:D2G	D	+	2	0	CTC-435M10.3;TMEM91	46576059	0.998000	0.40836	0.986000	0.45419	0.165000	0.22458	3.619000	0.54196	2.013000	0.59113	0.459000	0.35465	GAC		0.557	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			G	41884219	A	G	41884219	3	3	44	1	0	0	0	0	1	0	0	0	16217	275	10	2	7	2	TMEM91	19	41884219	Missense_Mutation	SNP	A	TCGA-KN-8429-01A-11D-2310-10	26045172	41884219	17244764	62	4360											
ZNF418	147686	mdanderson.org	37	chr19	58439306	58439306	+	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	ccacacatttcacaagagtgGgccttcttgggagacacacc	11	8	9	13	0	2	2	1	0	1	2	2	3	2	2	3	2	0	0	3	2	1	3	rs7253514	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr19:58439306G>A	ENST00000396147.1	-	4	534	c.243C>T	c.(241-243)gcC>gcT	p.A81A	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Silent_p.A81A|ZNF418_ENST00000599852.1_5'UTR|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.A102A	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	81	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)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	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;0.0158)		CACAAGAGTGGGCCTTCTTGG	0.507													G|||	1448	0.289137	0.2595	0.3573	5008	,	,		18775	0.4048		0.2545	False		,,,				2504	0.1973					.											0								G		1066,3340		131,804,1268	62	66	64		243	-1.5	0	19	dbSNP_116	64	2219,6381		293,1633,2374	no	coding-synonymous	ZNF418	NM_133460.1		424,2437,3642	AA,AG,GG		25.8023,24.1943,25.2576		81/677	58439306	3285,9721	2203	4300	6503	SO:0001819	synonymous_variant	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.243C>T	19.37:g.58439306G>A			Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	CCDS42642.1																																																																																				0.507	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		A	58439306	G	A	58439306	2	1	44	1	0	0	0	0	0	0	0	1	17892	1219	43	3		3	ZNF418	19	58439306	Silent	SNP	G	TCGA-KN-8429-01A-11D-2310-10	16555087	58439306	689677	63	4361											
MN1	4330	hgsc.bcm.edu	37	chr22	28194900	28194900	+	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	cgctgctgctgctgctgctgTtgctgttgctgttgctgctg	0	16	14	11	1	0	0	0	0	0	0	0	0	0	0	0	0	9	13	0	0	0	3	rs202212250|rs530519178	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr22:28194900T>C	ENST00000302326.4	-	1	2586	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	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						gctgctgctgttgctgttgct	0.647			T	ETV6	"AML, meningioma"								C|||	5	0.000998403	0.0023	0	5008	,	,		12597	0		0	False		,,,				2504	0.002					.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0																																										SO:0001819	synonymous_variant	4330			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.1632A>G	22.37:g.28194900T>C			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28194900	T	C	28194900	2	2	44	1	0	0	0	0	0	0	0	1	9673	1722	60	2		2	MN1	22	28194900	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10		28194900	23109666	64	4362			1	32		3	3	28	N	T_C	1.500171e-09
MN1	4330	mdanderson.org	37	chr22	28194912	28194912	+	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	tgctgctgttgctgttgctgTtgctgctgctgctgctgctg	0	17	14	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr22:28194912T>C	ENST00000302326.4	-	1	2574	c.1620A>G	c.(1618-1620)caA>caG	p.Q540Q		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						gctgttgctgttgctgctgct	0.657			T	ETV6	"AML, meningioma"																																	.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													4	5	5					22																	28194912		1941	3935	5876	SO:0001819	synonymous_variant	4330			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.1620A>G	22.37:g.28194912T>C			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		C	28194912	T	C	28194912	2	2	44	1	0	0	0	0	0	0	0	1	9673	1722	60	2		2	MN1	22	28194912	Silent	SNP	T	TCGA-KN-8429-01A-11D-2310-10	12	28194912	23109654	65	4363			1	32		3	3	28	N	T_C	1.500171e-09
MN1	4330	mdanderson.org	37	chr22	28194927	28194927	+	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	tgctgttgctgctgctgctgCtgctgttgctgctgctgctg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2	rs570740760	byFrequency	TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chr22:28194927C>T	ENST00000302326.4	-	1	2559	c.1605G>A	c.(1603-1605)caG>caA	p.Q535Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	535	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	0.647			T	ETV6	"AML, meningioma"								C|||	8	0.00159744	8e-04	0.0043	5008	,	,		12376	0.001		0.002	False		,,,				2504	0.001					.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0																																										SO:0001819	synonymous_variant	4330			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.1605G>A	22.37:g.28194927C>T			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28194927	C	T	28194927	2	4	44	1	0	0	0	0	0	0	0	1	9673	796	28	4		4	MN1	22	28194927	Silent	SNP	C	TCGA-KN-8429-01A-11D-2310-10	15	28194927	23109639	66	4364			1	32		3	3	28	N	T_C	1.500171e-09
PLXNB3	5365	bcgsc.ca	37	chrX	153035378	153035378	+	Missense_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	gctgccgggccaccacccccGccaggagcagggccaggtaa	8	2	14	17	2	0	0	0	0	0	0	0	1	0	1	7	4	2	3	7	4	1	1			TCGA-KN-8429-01A-11D-2310-10	TCGA-KN-8429-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	58c7e9c3-1345-48c0-a758-0887358b8696	8a9aade0-01c0-49a8-9a47-1498341edff7	g.chrX:153035378G>A	ENST00000361971.5	+	7	1727	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R191H|PLXNB3_ENST00000538543.1_Missense_Mutation_p.R88H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R561H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R148H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	538					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)					CACCACCCCCGCCAGGAGCAG	0.687																																						.											0													17	19	18					X																	153035378		2188	4287	6475	SO:0001583	missense	5365			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.1613G>A	X.37:g.153035378G>A	ENSP00000355378:p.Arg538His		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395171	0.83011	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	T;T;T;T;T	0.69926	5.11;5.08;4.53;1.71;-0.44	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.87381	2.88	0.36655	D	0.87762	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.991;0.967;0.996;0.991	D	0.83398	0.0021	10	0.15066	T	0.55	.	14.1448	0.65344	0.0:0.0:1.0:0.0	.	191;220;88;561;538	B7Z3H9;B7Z9A5;F5GZZ4;F5H773;Q9ULL4	.;.;.;.;PLXB3_HUMAN	H	561;538;191;88;148	ENSP00000442736:R561H;ENSP00000355378:R538H;ENSP00000445569:R191H;ENSP00000444086:R88H;ENSP00000441919:R148H	ENSP00000355378:R538H	R	+	2	0	PLXNB3	152688572	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	3.241000	0.51376	1.910000	0.55303	0.600000	0.82982	CGC		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153035378	G	A	153035378	3	1	44	1	0	0	0	0	1	0	0	0	12125	1087	38	1	1753	1	PLXNB3	23	153035378	Missense_Mutation	SNP	G	TCGA-KN-8429-01A-11D-2310-10		153035378	2235182	67	4365											
ARHGEF19	128272	broad.mit.edu	37	chr1	16525737	16525737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtatgtcctaacacactgaAcctgggggcaatctgacagc	11	9	10	11	0	1	2	0	2	1	0	2	2	2	2	2	2	3	2	2	2	4	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:16525737A>G	ENST00000270747.3	-	15	2295	c.2159T>C	c.(2158-2160)gTt>gCt	p.V720A	ARHGEF19-AS1_ENST00000457809.1_RNA|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	720	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|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;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		AACACACTGAACCTGGGGGCA	0.607																																						.											0													103	87	92					1																	16525737		2203	4300	6503	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.2159T>C	1.37:g.16525737A>G	ENSP00000270747:p.Val720Ala		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	CCDS170.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123998	0.77436	.	.	ENSG00000142632	ENST00000270747	T	0.30182	1.54	4.57	4.57	0.56435	Src homology-3 domain (3);	0.000000	0.56097	D	0.000025	T	0.42562	0.1208	L	0.39326	1.205	0.80722	D	1	D	0.59767	0.986	D	0.64877	0.93	T	0.27123	-1.0083	10	0.51188	T	0.08	.	11.9367	0.52878	1.0:0.0:0.0:0.0	.	720	Q8IW93	ARHGJ_HUMAN	A	720	ENSP00000270747:V720A	ENSP00000270747:V720A	V	-	2	0	ARHGEF19	16398324	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.037000	0.88933	1.939000	0.56221	0.459000	0.35465	GTT		0.607	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		G	16525737	A	G	16525737	3	3	45	1	0	0	0	0	1	0	0	0	902	43	2	2	257	2	ARHGEF19	1	16525737	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10		16525737	232724884	1	4366											
RCAN3	11123	hgsc.bcm.edu;bcgsc.ca	37	chr1	24861635	24861635	+	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	tcgacacccagcgtggtggtTcatgtctgtgaaagtgaaac	10	10	12	9	2	2	2	1	2	1	0	3	3	2	2	1	2	2	1	1	2	2	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:24861635T>C	ENST00000374395.4	+	5	907	c.594T>C	c.(592-594)gtT>gtC	p.V198V	RCAN3_ENST00000374393.2_Missense_Mutation_p.F83S|RCAN3_ENST00000436717.2_Silent_p.V188V|RCAN3_ENST00000538532.1_Silent_p.V140V|RCAN3_ENST00000412742.2_Missense_Mutation_p.F141S	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	198					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GCGTGGTGGTTCATGTCTGTG	0.498																																						.											0													47	49	48					1																	24861635		2203	4300	6503	SO:0001819	synonymous_variant	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.594T>C	1.37:g.24861635T>C			A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	CCDS254.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162723	0.57368	.	.	ENSG00000117602	ENST00000412742;ENST00000374393	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	T	0.34164	0.0888	.	.	.	0.19300	N	0.999973	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42258	-0.9462	7	0.87932	D	0	-33.0566	15.3457	0.74334	0.0:0.2117:0.6205:0.1677	.	83;141	E7EWD8;E7ENV1	.;.	S	141;83	.	ENSP00000363514:F83S	F	+	2	0	RCAN3	24734222	0.074000	0.21230	0.212000	0.23672	0.975000	0.68041	-0.717000	0.04986	-1.894000	0.01105	-0.435000	0.05868	TTC		0.498	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			C	24861635	T	C	24861635	2	2	45	1	0	0	0	0	0	0	0	1	13170	1770	62	4		4	RCAN3	1	24861635	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	8335898	24861635	224388986	2	4367											
CELSR2	1952	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	109805471	109805471	+	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	tgctactaggcggggtgcctGacctgcccgagagcttccca	6	8	13	14	2	0	2	0	1	0	1	1	3	1	2	4	3	5	2	4	3	2	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:109805471G>T	ENST00000271332.3	+	7	4649	c.4588G>T	c.(4588-4590)Gac>Tac	p.D1530Y		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1530	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CGGGGTGCCTGACCTGCCCGA	0.642																																					NSCLC(158;1285 2011 34800 34852 42084)	.											0													55	57	56					1																	109805471		2202	4300	6502	SO:0001583	missense	1952			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.4588G>T	1.37:g.109805471G>T	ENSP00000271332:p.Asp1530Tyr		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403315	0.62288	.	.	ENSG00000143126	ENST00000271332	T	0.81415	-1.49	4.6	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79534	0.4462	M	0.62088	1.915	0.38754	D	0.954164	D	0.64830	0.994	D	0.64410	0.925	T	0.80618	-0.1302	9	0.59425	D	0.04	.	5.235	0.15441	0.168:0.0:0.6532:0.1788	.	1530	Q9HCU4	CELR2_HUMAN	Y	1530	ENSP00000271332:D1530Y	ENSP00000271332:D1530Y	D	+	1	0	CELSR2	109606994	0.999000	0.42202	0.933000	0.37362	0.852000	0.48524	3.366000	0.52343	1.221000	0.43506	0.561000	0.74099	GAC		0.642	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109805471	G	T	109805471	3	4	45	1	0	0	0	0	1	0	0	0	3222	1290	45	5	4614	5	CELSR2	1	109805471	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	84943836	109805471	139445150	3	4368											
NBPF16	284565	ucsc.edu	37	chr1	148756448	148756448	+	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	tctccttttccaggctcaacGgcgtgctgatggaagtggaa	8	11	12	10	2	2	1	1	1	1	0	4	3	3	3	2	4	2	2	2	4	3	2	rs201036679	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:148756448G>A	ENST00000417839.1	+	16	1967	c.1777G>A	c.(1777-1779)Ggc>Agc	p.G593S		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		593	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CAGGCTCAACGGCGTGCTGAT	0.443													.|||	2359	0.471046	0.441	0.4942	5008	,	,		13733	0.4782		0.493	False		,,,				2504	0.4652					.											0													19	14	16					1																	148756448		1538	3069	4607	SO:0001583	missense	728936																														ENST00000417839.1:c.1777G>A	1.37:g.148756448G>A	ENSP00000395369:p.Gly593Ser		A8MPT6	Missense_Mutation	SNP	ENST00000417839.1	37	CCDS41384.1	.	.	.	.	.	.	.	.	.	.	a	0.032	-1.326930	0.01309	.	.	ENSG00000203827	ENST00000417839;ENST00000254372	T	0.06218	3.33	0.109	-0.218	0.13142	DUF1220 (2);	.	.	.	.	T	0.00754	0.0025	N	0.21448	0.665	0.09310	N	1	P;B	0.40211	0.707;0.002	B;B	0.30855	0.121;0.006	T	0.45011	-0.9290	8	0.19147	T	0.46	.	.	.	.	.	593;403	Q5SXJ2;B4DRP3	NBPFG_HUMAN;.	S	593	ENSP00000395369:G593S	ENSP00000254372:G593S	G	+	1	0	NBPF16	147023072	0.998000	0.40836	0.068000	0.19968	0.069000	0.16628	0.720000	0.25896	-1.122000	0.02945	-1.109000	0.02080	GGC		0.443	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1			A	148756448	G	A	148756448	3	1	45	1	0	0	0	0	1	0	0	0	10196	1116	39	1	3908	1	NBPF16	1	148756448	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	38950977	148756448	100494173	4	4369											
CENPF	1063	broad.mit.edu	37	chr1	214815136	214815136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaatgacttattacaagAgaatgaacagctgatgaagg	17	10	10	4	0	0	5	0	4	0	1	0	6	0	5	0	1	3	2	0	1	7	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:214815136A>G	ENST00000366955.3	+	12	3623	c.3455A>G	c.(3454-3456)gAg>gGg	p.E1152G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTATTACAAGAGAATGAACAG	0.343																																					Colon(80;575 1284 11000 14801 43496)	.											0													62	64	63					1																	214815136		2203	4300	6503	SO:0001583	missense	1063			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.3455A>G	1.37:g.214815136A>G	ENSP00000355922:p.Glu1152Gly		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.593293	0.28357	.	.	ENSG00000117724	ENST00000366955	T	0.05382	3.45	5.01	5.01	0.66863	.	0.000000	0.38436	N	0.001682	T	0.08670	0.0215	.	.	.	0.41890	D	0.990365	P	0.48503	0.911	P	0.45406	0.479	T	0.14559	-1.0468	9	0.40728	T	0.16	.	9.8173	0.40860	0.9189:0.0:0.0811:0.0	.	1152	P49454	CENPF_HUMAN	G	1152	ENSP00000355922:E1152G	ENSP00000355922:E1152G	E	+	2	0	CENPF	212881759	1.000000	0.71417	0.946000	0.38457	0.294000	0.27393	4.975000	0.63777	2.011000	0.59026	0.496000	0.49642	GAG		0.343	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214815136	A	G	214815136	3	3	45	1	0	0	0	0	1	0	0	0	3231	304	11	2	3497	2	CENPF	1	214815136	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	66058688	214815136	34435485	5	4370											
ALLC	55821	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr2	3743874	3743874	+	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	attttctgtaggagttggcgGggcaaagtctatggcggatg	8	12	16	5	2	2	0	0	0	2	0	2	2	2	2	0	6	0	3	0	6	3	5			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:3743874G>A	ENST00000252505.3	+	9	839	c.677G>A	c.(676-678)gGg>gAg	p.G226E	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	245					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTTGGCGGGGCAAAGTCT	0.363										HNSCC(21;0.051)																												.											0													87	82	84					2																	3743874		1850	4109	5959	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.677G>A	2.37:g.3743874G>A	ENSP00000252505:p.Gly226Glu		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625012	0.28889	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.66	-9.89	0.00464	Allantoicase domain (1);Galactose-binding domain-like (1);	2.153630	0.01366	N	0.012415	T	0.07999	0.0200	N	0.00661	-1.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	9	0.51188	T	0.08	-16.7355	4.9664	0.14093	0.1423:0.2747:0.492:0.091	.	245	Q8N6M5	ALLC_HUMAN	E	226	.	ENSP00000252505:G226E	G	+	2	0	ALLC	3721749	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.294000	0.08309	-1.949000	0.01031	-0.345000	0.07892	GGG		0.363	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			A	3743874	G	A	3743874	3	1	45	1	0	0	0	0	1	0	0	0	534	1232	43	3	707	3	ALLC	2	3743874	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		3743874	239455499	6	4371											
LIPT1	51601	broad.mit.edu	37	chr2	99778524	99778524	+	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	aaaaaatgggctcattttacAgtcaatttccaatgatgtct	14	14	6	7	0	3	1	2	1	1	0	4	1	4	1	1	1	1	1	1	1	6	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:99778524A>T	ENST00000393473.2	+	3	328	c.104A>T	c.(103-105)cAg>cTg	p.Q35L	LIPT1_ENST00000393477.3_Missense_Mutation_p.Q35L|LIPT1_ENST00000340066.1_Missense_Mutation_p.Q35L|LIPT1_ENST00000393471.2_Missense_Mutation_p.Q35L|LIPT1_ENST00000393474.3_Missense_Mutation_p.Q35L|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	35					cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTCATTTTACAGTCAATTTCC	0.383																																					GBM(84;665 1268 21657 25485 30647)	.											0													95	91	93					2																	99778524		2203	4300	6503	SO:0001583	missense	51601			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.104A>T	2.37:g.99778524A>T	ENSP00000377115:p.Gln35Leu		Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	A	6.644	0.487261	0.12641	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000449211;ENST00000434566;ENST00000415142;ENST00000436234	.	.	.	5.06	5.06	0.68205	.	0.259619	0.38663	N	0.001611	T	0.41213	0.1149	N	0.20986	0.625	0.80722	D	1	B	0.15930	0.015	B	0.13407	0.009	T	0.27905	-1.0060	9	0.10111	T	0.7	-21.4158	14.1412	0.65320	1.0:0.0:0.0:0.0	.	35	Q9Y234	LIPT_HUMAN	L	35	.	ENSP00000342071:Q35L	Q	+	2	0	LIPT1	99144956	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	3.555000	0.53727	2.123000	0.65237	0.533000	0.62120	CAG		0.383	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		T	99778524	A	T	99778524	3	4	45	1	0	0	0	0	1	0	0	0	8829	188	7	5	106	5	LIPT1	2	99778524	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	96034650	99778524	143420849	7	4372											
GPR148	344561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	131486934	131486934	+	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	ctggctgtcagccccctgctGctggtgaccatcctgcggaa	5	9	12	15	1	1	1	1	1	0	0	2	2	2	2	4	3	4	3	4	3	1	0			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:131486934G>A	ENST00000309926.4	+	1	292	c.210G>A	c.(208-210)ctG>ctA	p.L70L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GCCCCCTGCTGCTGGTGACCA	0.632																																						.											0													55	54	54					2																	131486934		2203	4300	6503	SO:0001819	synonymous_variant	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.210G>A	2.37:g.131486934G>A			Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	CCDS2163.1																																																																																				0.632	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		A	131486934	G	A	131486934	2	1	45	1	0	0	0	0	0	0	0	1	6653	1306	46	4		4	GPR148	2	131486934	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	31708410	131486934	111712439	8	4373											
LCT	3938	broad.mit.edu;mdanderson.org	37	chr2	136558375	136558375	+	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	gcagtgccaggcctattggaGactcctggaaacatacacat	12	8	10	11	0	0	1	0	0	0	1	1	3	1	2	3	3	3	1	3	3	3	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:136558375G>A	ENST00000264162.2	-	12	4678	c.4668C>T	c.(4666-4668)gtC>gtT	p.V1556V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1556	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)	GCCTATTGGAGACTCCTGGAA	0.507																																						.											0													54	50	51					2																	136558375		2203	4300	6503	SO:0001819	synonymous_variant	3938			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.4668C>T	2.37:g.136558375G>A			Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136558375	G	A	136558375	2	1	45	1	0	0	0	0	0	0	0	1	8693	929	33	4		4	LCT	2	136558375	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	5071441	136558375	106640998	9	4374											
GAD1	2571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr2	171709233	171709233	+	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	gcttctttcagggccaactcAgtcacctggaaccctcacaa	10	9	7	15	0	5	0	4	0	1	0	5	1	5	1	3	2	2	1	3	2	3	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:171709233A>C	ENST00000358196.3	+	13	1744	c.1194A>C	c.(1192-1194)tcA>tcC	p.S398S		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	398					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						GGGCCAACTCAGTCACCTGGA	0.507																																						.											0													171	134	147					2																	171709233		2203	4300	6503	SO:0001819	synonymous_variant	2571				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.1194A>C	2.37:g.171709233A>C			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	ENST00000358196.3	37	CCDS2239.1																																																																																				0.507	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			C	171709233	A	C	171709233	2	2	45	1	0	0	0	0	0	0	0	1	6179	175	7	5		5	GAD1	2	171709233	Silent	SNP	A	TCGA-KN-8430-01A-11D-2310-10	35150858	171709233	71490140	10	4375											
TTN	7273	broad.mit.edu	37	chr2	179426292	179426292	+	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	ctttctttatactcaagatgAtagccaattactcgacttcc	11	15	4	11	1	2	2	1	1	1	1	4	3	3	2	2	0	3	0	2	0	6	7			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:179426292A>G	ENST00000591111.1	-	276	79868	c.79644T>C	c.(79642-79644)taT>taC	p.Y26548Y	TTN_ENST00000589042.1_Silent_p.Y28189Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19249Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.Y19124Y|TTN_ENST00000342175.6_Silent_p.Y19316Y|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25621Y			Q8WZ42	TITIN_HUMAN	titin	26548	Fibronectin type-III 93. {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)			ACTCAAGATGATAGCCAATTA	0.418																																						.											0													87	80	83					2																	179426292		1902	4113	6015	SO:0001819	synonymous_variant	7273			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.79644T>C	2.37:g.179426292A>G			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																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179426292	A	G	179426292	2	3	45	1	0	0	0	0	0	0	0	1	16732	340	12	4		4	TTN	2	179426292	Silent	SNP	A	TCGA-KN-8430-01A-11D-2310-10	7717059	179426292	63773081	11	4376											
FANCD2	2177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	10107113	10107113	+	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	gtgcctggctccgtatttccGgttactgagactttgtgtgg	4	15	13	9	2	0	1	0	1	0	1	2	2	2	1	3	3	2	3	3	3	2	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:10107113G>A	ENST00000419585.1	+	24	2365	c.2204G>A	c.(2203-2205)cGg>cAg	p.R735Q	FANCD2_ENST00000383806.1_Missense_Mutation_p.R735Q|FANCD2_ENST00000287647.3_Missense_Mutation_p.R735Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.R735Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	735					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)		CCGTATTTCCGGTTACTGAGA	0.443			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0													169	166	167					3																	10107113		2203	4300	6503	SO:0001583	missense	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	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.2204G>A	3.37:g.10107113G>A	ENSP00000398754:p.Arg735Gln		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080597	0.94050	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.29	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.72576	2.205	0.42130	D	0.991465	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76953	-0.2768	10	0.72032	D	0.01	.	13.0316	0.58845	0.0:0.0:0.8374:0.1626	.	735;735	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	Q	735	ENSP00000287647:R735Q;ENSP00000373318:R735Q;ENSP00000373317:R735Q;ENSP00000398754:R735Q	ENSP00000287647:R735Q	R	+	2	0	FANCD2	10082113	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.152000	0.94680	1.227000	0.43598	0.585000	0.79938	CGG		0.443	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			A	10107113	G	A	10107113	3	1	45	1	0	0	0	0	1	0	0	0	5665	1116	39	1	2294	1	FANCD2	3	10107113	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		10107113	187915317	12	4377											
C3orf20	84077	broad.mit.edu;hgsc.bcm.edu	37	chr3	14724245	14724246	+	Frame_Shift_Ins	INS	-	-	A																															ttacatcaagagtaacctagINSaattatatcagcaatacaca																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:14724245_14724246insA	ENST00000253697.3	+	3	477_478	c.25_26insA	c.(25-27)gaafs	p.E9fs	C3orf20_ENST00000435614.1_Intron|C3orf20_ENST00000412910.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	9						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGTAACCTAGAATTATATCAG	0.48																																						.											0																																										SO:0001589	frameshift_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.27dupA	3.37:g.14724247_14724247dupA	ENSP00000253697:p.Glu9fs		Q7L0U6|Q8NCP2|Q9H0I7	Frame_Shift_Ins	INS	ENST00000253697.3	37	CCDS33706.1																																																																																				0.48	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14724246	-	A	14724245	7	5	45	1	0	1	1	0	0	0	0	0	2213	943	33	0	27	0	C3orf20	3	14724245	Frame_Shift_Ins	INS	-	TCGA-KN-8430-01A-11D-2310-10	4617132	14724245	183298185	13	4378	104	2									
C3orf20	84077	bcgsc.ca	37	chr3	14724246	14724247	+	Frame_Shift_Ins	INS	-	-	A																															tacatcaagagtaacctagaINSattatatcagcaatacacag																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:14724246_14724247insA	ENST00000253697.3	+	3	478_479	c.26_27insA	c.(25-30)gaattafs	p.L10fs	C3orf20_ENST00000435614.1_Intron|C3orf20_ENST00000412910.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	10						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTAACCTAGAATTATATCAGC	0.48																																						.											0																																										SO:0001589	frameshift_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.27dupA	3.37:g.14724247_14724247dupA	ENSP00000253697:p.Leu10fs		Q7L0U6|Q8NCP2|Q9H0I7	Frame_Shift_Ins	INS	ENST00000253697.3	37	CCDS33706.1																																																																																				0.48	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14724247	-	A	14724246	7	5	45	1	0	1	1	0	0	0	0	0	2213	246	9	0	28	0	C3orf20	3	14724246	Frame_Shift_Ins	INS	-	TCGA-KN-8430-01A-11D-2310-10	1	14724246	183298184	14	4379	104	2									
DAZL	1618	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	16630168	16630168	+	Nonstop_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	actagataagccaggaggatCaaacagatttaagcattgcc	16	8	9	8	0	1	2	1	0	0	2	1	4	1	4	2	2	4	1	2	2	4	5			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:16630168C>G	ENST00000399444.2	-	11	1180	c.887G>C	c.(886-888)tGa>tCa	p.*296S	DAZL_ENST00000250863.8_Nonstop_Mutation_p.*316S	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	0					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CCAGGAGGATCAAACAGATTT	0.338																																						.											0													182	177	179					3																	16630168		1823	4083	5906	SO:0001578	stop_lost	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.887G>C	3.37:g.16630168C>G			O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	ENST00000399444.2	37	CCDS43059.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915762	0.33815	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	.	.	.	5.47	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6359	0.51202	0.0:0.9173:0.0:0.0827	.	.	.	.	S	316;296	.	.	X	-	2	2	DAZL	16605172	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.683000	0.37638	2.560000	0.86352	0.655000	0.94253	TGA		0.338	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		G	16630168	C	G	16630168	4	3	45	1	0	0	0	0	0	0	0	0	4246	837	29	5	4	5	DAZL	3	16630168	Nonstop_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	1905922	16630168	181392262	15	4380											
DAZL	1618	hgsc.bcm.edu;mdanderson.org	37	chr3	16630220	16630221	+	Splice_Site	DNP	CC	CC	TT																															aaagtgatgcactcttttatCctggaaaagacagaaagagt																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:16630220_16630221CC>TT	ENST00000399444.2	-	11	1128	c.835_835GG>AA	c.(835-837)GGga>AAgga	p.G279K	DAZL_ENST00000250863.8_Splice_Site_p.G299K	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	279					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ACTCTTTTATCCTGGAAAAGAC	0.342																																						.											0																																										SO:0001630	splice_region_variant	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.835_835delinsTT	3.37:g.16630220_16630221delinsTT			O15396|Q5HYB4|Q92909	Splice_Site	DNP	ENST00000399444.2	37	CCDS43059.1																																																																																				0.342	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351	Missense_Mutation	TT	16630221	CC	TT	16630220	5	4	45	1	0	0	0	0	0	0	1	0	4246	869	30	3	56	3	DAZL	3	16630220	Splice_Site	DNP	CC	TCGA-KN-8430-01A-11D-2310-10	52	16630220	181392210	16	4381											
SMARCC1	6599	hgsc.bcm.edu	37	chr3	47823126	47823126	+	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	ttgcccagccagacccgcacCgaatccagctgggacaccgt	9	5	10	17	3	0	1	0	0	0	1	1	3	1	2	6	1	3	2	6	1	1	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:47823126C>T	ENST00000254480.5	-	1	281	c.162G>A	c.(160-162)tcG>tcA	p.S54S	SMARCC1_ENST00000425518.1_Intron	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	54					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|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)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AGACCCGCACCGAATCCAGCT	0.701																																						.											0													18	22	21					3																	47823126		2177	4262	6439	SO:0001819	synonymous_variant	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.162G>A	3.37:g.47823126C>T			Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	CCDS2758.1																																																																																				0.701	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			T	47823126	C	T	47823126	2	4	45	1	0	0	0	0	0	0	0	1	14775	639	23	1		1	SMARCC1	3	47823126	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	31192906	47823126	150199304	17	4382											
PBRM1	55193	mdanderson.org;bcgsc.ca	37	chr3	52643600	52643600	+	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	tgggacatgagagtcctcatCtccctccaggtctctgcgtg	6	11	11	13	1	3	1	1	1	2	1	7	3	5	2	3	2	1	0	3	2	0	0			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:52643600C>A	ENST00000296302.7	-	16	2297	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	PBRM1_ENST00000410007.1_Missense_Mutation_p.D766Y|PBRM1_ENST00000337303.4_Missense_Mutation_p.D766Y|PBRM1_ENST00000394830.3_Missense_Mutation_p.D766Y|PBRM1_ENST00000356770.4_Missense_Mutation_p.D734Y|PBRM1_ENST00000409114.3_Missense_Mutation_p.D781Y|PBRM1_ENST00000409767.1_Missense_Mutation_p.D781Y|PBRM1_ENST00000409057.1_Missense_Mutation_p.D766Y			Q86U86	PB1_HUMAN	polybromo 1	766					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)	p.D766fs*22(2)|p.D734fs*22(1)		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)		GAGTCCTCATCTCCCTCCAGG	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	.		Rec	yes		3	3p21	55193	polybromo 1		E	3	Deletion - Frameshift(3)	kidney(3)											82	79	80					3																	52643600		2203	4300	6503	SO:0001583	missense	55193			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.2296G>T	3.37:g.52643600C>A	ENSP00000296302:p.Asp766Tyr		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.105828	0.77096	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;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;2.18;2.18	6.17	6.17	0.99709	Bromodomain (1);	0.090503	0.85682	D	0.000000	T	0.24774	0.0601	L	0.29908	0.895	0.58432	D	0.999995	D;P;D;D;P;D;D;D;D;D;D	0.62365	0.968;0.804;0.972;0.988;0.796;0.959;0.959;0.985;0.991;0.959;0.959	B;B;B;P;B;B;B;P;B;B;P	0.46237	0.409;0.075;0.291;0.492;0.146;0.312;0.406;0.494;0.407;0.312;0.508	T	0.00304	-1.1832	10	0.54805	T	0.06	-5.6171	20.8794	0.99867	0.0:1.0:0.0:0.0	.	766;141;766;766;766;766;781;781;766;734;766	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	Y	734;766;766;766;766;766;781;781;766;725	ENSP00000349213:D734Y;ENSP00000378307:D766Y;ENSP00000296302:D766Y;ENSP00000338302:D766Y;ENSP00000386593:D766Y;ENSP00000386529:D766Y;ENSP00000386643:D781Y;ENSP00000386601:D781Y;ENSP00000387775:D766Y;ENSP00000397662:D725Y	ENSP00000296302:D766Y	D	-	1	0	PBRM1	52618640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.994000	0.70623	2.941000	0.99782	0.655000	0.94253	GAT		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643600	C	A	52643600	3	1	45	1	0	0	0	0	1	0	0	0	11491	913	32	5	2664	5	PBRM1	3	52643600	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	4820474	52643600	145378830	18	4383											
CACNA1D	776	broad.mit.edu	37	chr3	53844075	53844075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcactcgacccggtcgtGggccacccctccagcaaccc	7	5	10	19	3	1	0	1	0	0	0	4	2	2	0	6	2	2	1	6	2	1	0			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:53844075G>T	ENST00000350061.5	+	47	6453	c.5942G>T	c.(5941-5943)tGg>tTg	p.W1981L	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.W1957L|CACNA1D_ENST00000288139.4_Missense_Mutation_p.W2001L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1981					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)	ACCCGGTCGTGGGCCACCCCT	0.612																																						.											0													57	59	58					3																	53844075		2203	4300	6503	SO:0001583	missense	776			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.5942G>T	3.37:g.53844075G>T	ENSP00000288133:p.Trp1981Leu		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039880	0.75732	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.21	5.21	0.72293	.	0.090555	0.49305	D	0.000149	T	0.72236	0.3435	M	0.74647	2.275	0.80722	D	1	D;B;B;D	0.76494	0.999;0.012;0.439;0.999	D;B;B;D	0.70716	0.934;0.009;0.109;0.97	T	0.74321	-0.3703	10	0.56958	D	0.05	.	17.3269	0.87251	0.0:0.0:1.0:0.0	.	1957;1674;1981;2001	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	L	1981;2001;1957;1674	ENSP00000288133:W1981L;ENSP00000288139:W2001L;ENSP00000409174:W1957L;ENSP00000418014:W1674L	ENSP00000288139:W2001L	W	+	2	0	CACNA1D	53819115	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.790000	0.99075	2.608000	0.88229	0.460000	0.39030	TGG		0.612	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53844075	G	T	53844075	3	4	45	1	0	0	0	0	1	0	0	0	2541	1357	47	5	6300	5	CACNA1D	3	53844075	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	1200475	53844075	144178355	19	4384											
OR5H14	403273	mdanderson.org	37	chr3	97868391	97868391	+	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	gtcatctggaaagaccctcaTcttcatatcccaatgtactt	11	13	5	12	0	5	1	3	0	2	1	6	2	6	2	2	1	1	1	2	1	4	4	rs143765725		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:97868391T>C	ENST00000437310.1	+	1	222	c.162T>C	c.(160-162)caT>caC	p.H54H	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGACCCTCATCTTCATATCC	0.418													t|||	1	0.000199681	0	0.0014	5008	,	,		21040	0		0	False		,,,				2504	0					.											0																																										SO:0001819	synonymous_variant	403273				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.162T>C	3.37:g.97868391T>C			B9EH15	Silent	SNP	ENST00000437310.1	37	CCDS33798.1																																																																																				0.418	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			C	97868391	T	C	97868391	2	2	45	1	0	0	0	0	0	0	0	1	11160	1432	50	4		4	OR5H14	3	97868391	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	44024316	97868391	100154039	20	4385											
STAG1	10274	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	136076575	136076575	+	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	aacttacactgtctttttgtCctgtcgaagaagtttagaag	11	15	8	7	1	1	2	0	0	1	2	3	3	2	2	1	0	2	1	1	0	6	5			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:136076575C>T	ENST00000383202.2	-	28	3308	c.3052G>A	c.(3052-3054)Gac>Aac	p.D1018N	STAG1_ENST00000236698.5_Missense_Mutation_p.D1018N|STAG1_ENST00000536929.1_Missense_Mutation_p.D602N|STAG1_ENST00000434713.2_Missense_Mutation_p.D758N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1018					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTCTTTTTGTCCTGTCGAAGA	0.294																																						.											0													83	82	83					3																	136076575		2201	4298	6499	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3052G>A	3.37:g.136076575C>T	ENSP00000372689:p.Asp1018Asn		O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010320	0.93346	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94931	0.8082	10	0.87932	D	0	.	18.0967	0.89492	0.0:1.0:0.0:0.0	.	1018;1018	Q6P275;Q8WVM7	.;STAG1_HUMAN	N	1018;1018;758;602	ENSP00000372689:D1018N;ENSP00000236698:D1018N;ENSP00000404396:D758N;ENSP00000445787:D602N	ENSP00000236698:D1018N	D	-	1	0	STAG1	137559265	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.814000	0.86154	2.495000	0.84180	0.650000	0.86243	GAC		0.294	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		T	136076575	C	T	136076575	3	4	45	1	0	0	0	0	1	0	0	0	15241	855	30	3	752	3	STAG1	3	136076575	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	38208184	136076575	61945855	21	4386											
SLC26A1	10861	mdanderson.org	37	chr4	985339	985339	+	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	cgcgtggcggggagcaggtcCtgcaccagcgcccggacgca	6	3	17	15	6	0	0	0	0	0	0	1	2	1	2	3	5	3	3	3	5	0	0	rs200471470	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:985339C>G	ENST00000361661.2	-	3	530	c.153G>C	c.(151-153)caG>caC	p.Q51H	IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Missense_Mutation_p.Q51H|SLC26A1_ENST00000398516.2_Missense_Mutation_p.Q51H|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	51					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGAGCAGGTCCTGCACCAGCG	0.697																																						.											0								C	,HIS/GLN,HIS/GLN,HIS/GLN	0,4396		0,0,2198	26	24	25		,153,153,153	-1.1	0	4		25	3,8583		0,3,4290	no	intron,missense,missense,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,24,24,24	0,3,6488	GG,GC,CC		0.0349,0.0,0.0231	,possibly-damaging,possibly-damaging,possibly-damaging	,51/702,51/225,51/702	985339	3,12979	2198	4293	6491	SO:0001583	missense	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.153G>C	4.37:g.985339C>G	ENSP00000354721:p.Gln51His		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437794	0.25900	0.0	3.49E-4	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.93307	-3.02;-3.2;-3.2	5.12	-1.13	0.09775	.	0.352418	0.31257	N	0.007971	D	0.85818	0.5785	N	0.19112	0.55	0.09310	N	0.999997	P;P	0.43477	0.808;0.808	B;P	0.45753	0.332;0.492	T	0.79172	-0.1913	10	0.30078	T	0.28	.	6.2708	0.20953	0.0:0.4781:0.1248:0.3971	.	51;51	Q9H2B4;Q96BK0	S26A1_HUMAN;.	H	51	ENSP00000381532:Q51H;ENSP00000354721:Q51H;ENSP00000381528:Q51H	ENSP00000354721:Q51H	Q	-	3	2	SLC26A1	975339	0.023000	0.18921	0.007000	0.13788	0.125000	0.20455	1.512000	0.35812	0.014000	0.14944	-0.379000	0.06801	CAG		0.697	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		G	985339	C	G	985339	3	3	45	1	0	0	0	0	1	0	0	0	14514	680	24	5	2063	5	SLC26A1	4	985339	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10		985339	190168937	22	4387											
KCTD8	386617	mdanderson.org	37	chr4	44176969	44176969	+	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	1	0	0	0	0	0	0	0	0	ttggacagatttgtttcccgGgacttgctgatgagggtctg	6	14	14	7	1	1	3	0	2	1	1	2	5	2	5	1	3	1	2	1	3	0	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:44176969G>C	ENST00000360029.3	-	2	1543	c.1260C>G	c.(1258-1260)tcC>tcG	p.S420S		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	420					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						TTGTTTCCCGGGACTTGCTGA	0.413										HNSCC(17;0.042)																												.											0													212	222	219					4																	44176969		2203	4300	6503	SO:0001819	synonymous_variant	386617			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.1260C>G	4.37:g.44176969G>C			A2RU39	Silent	SNP	ENST00000360029.3	37	CCDS3467.1																																																																																				0.413	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			C	44176969	G	C	44176969	2	2	45	1	0	0	0	0	0	0	0	1	8115	1219	43	5		5	KCTD8	4	44176969	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	43191630	44176969	146977307	23	4388											
KIAA1211	57482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	57181970	57181970	+	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	ctcctcctgctggtgttcgcGagctcgggaagggtccggag	4	9	16	12	4	0	0	0	0	0	0	5	3	3	2	3	4	2	3	3	4	1	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:57181970G>A	ENST00000504228.1	+	6	2407	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E761K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E768K			Q6ZU35	K1211_HUMAN	KIAA1211	768										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGTGTTCGCGAGCTCGGGAA	0.602																																						.											0													52	65	60					4																	57181970		1945	4138	6083	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2302G>A	4.37:g.57181970G>A	ENSP00000423366:p.Glu768Lys		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	6.105	0.387601	0.11581	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11712	2.75;2.75;2.75	3.92	3.08	0.35506	.	.	.	.	.	T	0.04998	0.0134	N	0.12182	0.205	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.15052	0.012;0.004;0.004	T	0.45145	-0.9281	9	0.11182	T	0.66	-12.7984	4.905	0.13793	0.405:0.0:0.595:0.0	.	761;761;768	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	768;768;761;678	ENSP00000264229:E768K;ENSP00000423366:E768K;ENSP00000444006:E761K	ENSP00000264229:E768K	E	+	1	0	KIAA1211	56876727	0.791000	0.28800	0.025000	0.17156	0.005000	0.04900	4.000000	0.57039	0.855000	0.35359	0.561000	0.74099	GAG		0.602	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57181970	G	A	57181970	3	1	45	1	0	0	0	0	1	0	0	0	8215	1059	37	1	2320	1	KIAA1211	4	57181970	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	13005001	57181970	133972306	24	4389											
CCDC158	339965	broad.mit.edu	37	chr4	77305357	77305357	+	Frame_Shift_Del	DEL	T	T	-																															catgctgtcatgttcacataTttttttgcctgaggcttctt																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:77305357delT	ENST00000388914.3	-	5	762	c.610delA	c.(610-612)atafs	p.I204fs	CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	204										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						TGTTCACATATTTTTTTGCCT	0.393																																						.											0													106	97	100					4																	77305357		1872	4116	5988	SO:0001589	frameshift_variant	339965			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.610delA	4.37:g.77305357delT	ENSP00000373566:p.Ile204fs		Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		-	77305357	T	-	77305357	7	5	45	1	0	1	0	1	0	0	0	0	2790	1493	52	0	2811	0	CCDC158	4	77305357	Frame_Shift_Del	DEL	T	TCGA-KN-8430-01A-11D-2310-10	20123387	77305357	113848919	25	4390											
HERC5	51191	broad.mit.edu;mdanderson.org	37	chr4	89408222	89408222	+	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	tgtcatttccatttttaggaCgcttcagaaaatgtacaatg	12	15	7	7	1	2	1	2	0	0	1	3	2	3	2	1	1	1	2	1	1	5	6	rs369956338		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:89408222C>T	ENST00000264350.3	+	15	2007	c.1854C>T	c.(1852-1854)gaC>gaT	p.D618D	HERC5_ENST00000508159.1_Silent_p.D256D	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	618					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)		ATTTTTAGGACGCTTCAGAAA	0.338																																					Esophageal Squamous(39;887 1012 34045 50514)	.											0								C		1,4405	2.1+/-5.4	0,1,2202	78	77	77		1854	-3.7	0	4		77	0,8596		0,0,4298	no	coding-synonymous	HERC5	NM_016323.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		618/1025	89408222	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	51191			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.1854C>T	4.37:g.89408222C>T			B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	CCDS3630.1																																																																																				0.338	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		T	89408222	C	T	89408222	2	4	45	1	0	0	0	0	0	0	0	1	7061	535	19	1		1	HERC5	4	89408222	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	12102865	89408222	101746054	26	4391											
ADH1A	124	mdanderson.org	37	chr4	100203572	100203572	+	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	tcagtcatttcctttagcacCtcctggatgggtttcttgta	6	17	8	10	0	3	0	2	0	1	0	5	1	5	1	3	2	1	3	3	2	2	6			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:100203572C>T	ENST00000209668.2	-	6	872	c.759G>A	c.(757-759)gaG>gaA	p.E253E	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	253					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|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)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CCTTTAGCACCTCCTGGATGG	0.463																																						.											0													352	350	351					4																	100203572		2203	4300	6503	SO:0001819	synonymous_variant	124			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.759G>A	4.37:g.100203572C>T			A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	CCDS3648.1																																																																																				0.463	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		T	100203572	C	T	100203572	2	4	45	1	0	0	0	0	0	0	0	1	307	680	24	4		4	ADH1A	4	100203572	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	10795350	100203572	90950704	27	4392											
COL25A1	84570	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	110221771	110221771	+	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	tacattctgaaggtgcttctCttgcgattcttattttagcc	7	18	7	9	1	3	1	0	1	3	0	4	2	3	1	1	1	4	1	1	1	4	8			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:110221771C>G	ENST00000399132.1	-	3	865	c.335G>C	c.(334-336)aGa>aCa	p.R112T	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399127.1_Missense_Mutation_p.R112T|COL25A1_ENST00000399126.1_Missense_Mutation_p.R112T	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)		AGGTGCTTCTCTTGCGATTCT	0.383																																						.											0													195	173	180					4																	110221771		1849	4102	5951	SO:0001583	missense	84570			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.335G>C	4.37:g.110221771C>G	ENSP00000382083:p.Arg112Thr			Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107390	0.37145	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;T;D	0.92048	-2.75;0.71;-2.96	5.38	5.38	0.77491	.	0.000000	0.51477	D	0.000084	D	0.93497	0.7925	L	0.36672	1.1	0.80722	D	1	D;D;D	0.71674	0.998;0.989;0.967	D;D;P	0.78314	0.991;0.985;0.879	D	0.92353	0.5891	9	.	.	.	-13.2884	16.4169	0.83745	0.0:1.0:0.0:0.0	.	112;112;112	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	T	112	ENSP00000382083:R112T;ENSP00000382078:R112T;ENSP00000382077:R112T	.	R	-	2	0	COL25A1	110441220	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.104000	0.64584	2.686000	0.91538	0.650000	0.86243	AGA		0.383	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		G	110221771	C	G	110221771	3	3	45	1	0	0	0	0	1	0	0	0	3684	913	32	5	1853	5	COL25A1	4	110221771	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	10018199	110221771	80932505	28	4393											
KIAA1109	84162	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	123265699	123265699	+	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	tgcaagcaaaatggatactaCgttaataaatatatctggta	17	12	7	5	1	1	0	0	0	1	0	1	1	1	1	0	2	4	4	0	2	11	7			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:123265699C>T	ENST00000264501.4	+	74	13089	c.12716C>T	c.(12715-12717)aCg>aTg	p.T4239M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4239M			Q2LD37	K1109_HUMAN	KIAA1109	4239					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						ATGGATACTACGTTAATAAAT	0.308																																						.											0													103	99	100					4																	123265699		1834	4083	5917	SO:0001583	missense	84162			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.12716C>T	4.37:g.123265699C>T	ENSP00000264501:p.Thr4239Met		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.557440|4.557440	0.86231|0.86231	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.32753	.|2.42;2.42;1.44	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51924|0.51924	0.1703|0.1703	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.50591|0.50591	-0.8810|-0.8810	5|10	.|0.66056	.|D	.|0.02	.|.	19.4516|19.4516	0.94871|0.94871	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4238;4239	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	C|M	615|4239;4239;908	.|ENSP00000264501:T4239M;ENSP00000373390:T4239M;ENSP00000410874:T908M	.|ENSP00000264501:T4239M	R|T	+|+	1|2	0|0	KIAA1109|KIAA1109	123485149|123485149	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.951000|0.951000	0.60555|0.60555	7.631000|7.631000	0.83237|0.83237	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.308	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123265699	C	T	123265699	3	4	45	1	0	0	0	0	1	0	0	0	8208	536	19	1	13002	1	KIAA1109	4	123265699	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	13043928	123265699	67888577	29	4394											
FRG1	2483	mdanderson.org	37	chr4	190873411	190873411	+	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	atacatgcactcgacaatggTctttttaccctgggagctcc	9	12	8	12	1	1	0	0	0	1	0	3	2	2	1	2	2	4	2	2	2	3	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:190873411T>C	ENST00000226798.4	+	3	450	c.228T>C	c.(226-228)ggT>ggC	p.G76G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	76					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCGACAATGGTCTTTTTACCC	0.423																																						.											0													88	102	97					4																	190873411		2202	4292	6494	SO:0001819	synonymous_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.228T>C	4.37:g.190873411T>C			A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	4.506	0.093856	0.08632	.	.	ENSG00000109536	ENST00000524583	.	.	.	3.47	-6.93	0.01638	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57447	-0.7810	5	0.72032	D	0.01	-6.6814	2.1213	0.03726	0.2624:0.3899:0.0988:0.2489	.	.	.	.	A	6	.	ENSP00000435067:V6A	V	+	2	0	FRG1	191110405	0.036000	0.19791	0.635000	0.29338	0.933000	0.57130	-0.963000	0.03837	-1.953000	0.01026	-1.442000	0.01069	GTC		0.423	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		C	190873411	T	C	190873411	2	2	45	1	0	0	0	0	0	0	0	1	6046	1654	58	2		2	FRG1	4	190873411	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	67607712	190873411	280865	30	4395											
SDHA	6389	mdanderson.org	37	chr5	236676	236676	+	Missense_Mutation	SNP	G	G	A																															ggacctggttgtctttggtcGggcatgtgccctgagcatcg																								rs138277996	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:236676G>A	ENST00000264932.6	+	10	1509	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	SDHA_ENST00000510361.1_Missense_Mutation_p.R417Q|SDHA_ENST00000504309.1_Missense_Mutation_p.R465Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	465					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)	GTCTTTGGTCGGGCATGTGCC	0.577									Familial Paragangliomas																													.											0													87	79	82					5																	236676		2203	4300	6503	SO:0001583	missense	6389	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	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.1394G>A	5.37:g.236676G>A	ENSP00000264932:p.Arg465Gln		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	149|149	0.06822344322344322|0.06822344322344322	31|31	0.06300813008130081|0.06300813008130081	39|39	0.10773480662983426|0.10773480662983426	48|48	0.08391608391608392|0.08391608391608392	31|31	0.040897097625329816|0.040897097625329816	a|a	35|35	5.478541|5.478541	0.96291|0.96291	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000515815|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.|T;T;T	.|0.66280	.|-0.2;-0.2;-0.2	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.225299	.|0.34932	.|U	.|0.003561	T|T	0.04227|0.04227	0.0117|0.0117	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D	.|0.61080	.|0.718;0.989;0.982;0.978;0.987	.|B;B;B;B;B	.|0.41666	.|0.122;0.342;0.236;0.217;0.363	T|T	0.57585|0.57585	-0.7786|-0.7786	5|10	.|0.87932	.|D	.|0	.|.	14.1614|14.1614	0.65450|0.65450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|417;465;59;465;465	.|E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.|.;.;.;.;DHSA_HUMAN	R|Q	17|465;320;465;417	.|ENSP00000264932:R465Q;ENSP00000426514:R465Q;ENSP00000427703:R417Q	.|ENSP00000264932:R465Q	G|R	+|+	1|2	0|0	SDHA|SDHA	289676|289676	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.875000|0.875000	0.50365|0.50365	7.637000|7.637000	0.83313|0.83313	2.483000|2.483000	0.83821|0.83821	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.577	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	236676	G	A	236676	3	1	45	1	0	0	0	0	1	0	0	0	13963	1116	39	1	1432	1	SDHA	5	236676	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		236676	180678584	31	4396	105	2									
SDHA	6389	mdanderson.org	37	chr5	236678	236678	+	Missense_Mutation	SNP	G	G	A																															acctggttgtctttggtcggGcatgtgccctgagcatcgaa																								rs111387770	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:236678G>A	ENST00000264932.6	+	10	1511	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T	SDHA_ENST00000510361.1_Missense_Mutation_p.A418T|SDHA_ENST00000504309.1_Missense_Mutation_p.A466T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	466					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)	CTTTGGTCGGGCATGTGCCCT	0.577									Familial Paragangliomas																													.											0													86	78	81					5																	236678		2203	4300	6503	SO:0001583	missense	6389	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	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.1396G>A	5.37:g.236678G>A	ENSP00000264932:p.Ala466Thr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	235	0.10760073260073261	47	0.09552845528455285	43	0.11878453038674033	73	0.12762237762237763	72	0.09498680738786279	g	32	5.147215	0.94603	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.63580	-0.05;-0.05;-0.05	5.01	5.01	0.66863	.	0.138027	0.47852	U	0.000203	T	0.02012	0.0063	M	0.86097	2.795	0.80722	D	1	B;B;D;B;B	0.59357	0.085;0.268;0.985;0.433;0.411	B;B;P;B;B	0.50109	0.049;0.189;0.631;0.132;0.068	T	0.27706	-1.0066	10	0.87932	D	0	.	14.1614	0.65450	0.0:0.0:1.0:0.0	.	418;466;60;466;466	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	T	466;321;466;418	ENSP00000264932:A466T;ENSP00000426514:A466T;ENSP00000427703:A418T	ENSP00000264932:A466T	A	+	1	0	SDHA	289678	1.000000	0.71417	0.992000	0.48379	0.881000	0.50899	9.454000	0.97621	2.483000	0.83821	0.650000	0.86243	GCA		0.577	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	236678	G	A	236678	3	1	45	1	0	0	0	0	1	0	0	0	13963	1203	42	3	1434	3	SDHA	5	236678	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	2	236678	180678582	32	4397	105	2									
ZFR	51663	broad.mit.edu	37	chr5	32444365	32444372	+	Frame_Shift_Del	DEL	GCCCCGCT	GCCCCGCT	-																															ccgcagccgccgccgccgccGccccgctgtgggtgaatcca																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	GCCCCGCT	GCCCCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:32444365_32444372delGCCCCGCT	ENST00000265069.8	-	2	202_209	c.100_107delAGCGGGGC	c.(100-108)agcggggcgfs	p.SGA34fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	34					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cgccgccgccgccCCGCTGTGGGTGAAT	0.668																																						.											0																																										SO:0001589	frameshift_variant	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.100_107delAGCGGGGC	5.37:g.32444365_32444372delGCCCCGCT	ENSP00000265069:p.Ser34fs		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	CCDS34139.1																																																																																				0.668	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			-	32444372	GCCCCGCT	-	32444365	7	5	45	1	0	1	0	1	0	0	0	0	17656	1087	38	0	3193	0	ZFR	5	32444365	Frame_Shift_Del	DEL	GCCCCGCT	TCGA-KN-8430-01A-11D-2310-10	32207687	32444365	148470895	33	4398	106	2									
ZFR	51663	bcgsc.ca	37	chr5	32444366	32444373	+	Frame_Shift_Del	DEL	GCCCCGCT	GCCCCGCT	-																															cgcagccgccgccgccgccgCcccgctgtgggtgaatccaa																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	GCCCCGCT	GCCCCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:32444366_32444373delGCCCCGCT	ENST00000265069.8	-	2	201_208	c.99_106delAGCGGGGC	c.(97-108)caagcggggccgfs	p.QAGP33fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	33					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		gccgccgccgccCCGCTGTGGGTGAATC	0.663																																						.											0																																										SO:0001589	frameshift_variant	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.99_106delAGCGGGGC	5.37:g.32444366_32444373delGCCCCGCT	ENSP00000265069:p.Gln33fs		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	CCDS34139.1																																																																																				0.663	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			-	32444373	GCCCCGCT	-	32444366	7	5	45	1	0	1	0	1	0	0	0	0	17656	739	26	0	3194	0	ZFR	5	32444366	Frame_Shift_Del	DEL	GCCCCGCT	TCGA-KN-8430-01A-11D-2310-10	1	32444366	148470894	34	4399	106	2									
CMYA5	202333	broad.mit.edu	37	chr5	79025641	79025641	+	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	tattcaagtagtggcagagcAgaacaaggaatacagctcag	16	7	11	7	0	2	2	2	0	0	2	2	3	2	3	0	2	4	4	0	2	7	4	rs369390314		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:79025641A>G	ENST00000446378.2	+	2	1084	c.1053A>G	c.(1051-1053)gcA>gcG	p.A351A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	351					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTGGCAGAGCAGAACAAGGAA	0.453																																						.											0								A		0,4162		0,0,2081	70	69	69		1053	1.4	0.1	5		69	1,8441		0,1,4220	no	coding-synonymous	CMYA5	NM_153610.3		0,1,6301	GG,GA,AA		0.0118,0.0,0.0079		351/4070	79025641	1,12603	2081	4221	6302	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1053A>G	5.37:g.79025641A>G			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79025641	A	G	79025641	2	3	45	1	0	0	0	0	0	0	0	1	3590	175	7	2		2	CMYA5	5	79025641	Silent	SNP	A	TCGA-KN-8430-01A-11D-2310-10	46581275	79025641	101889619	35	4400											
DMXL1	1657	broad.mit.edu	37	chr5	118505983	118505983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcattttggatcatctgatAcattttccacacatatgagc	11	15	6	9	0	3	2	2	2	1	0	4	3	4	3	1	1	2	0	1	1	2	6			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:118505983A>G	ENST00000311085.8	+	24	5577	c.5497A>G	c.(5497-5499)Aca>Gca	p.T1833A	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1833A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1833										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)		ATCATCTGATACATTTTCCAC	0.348																																						.											0													70	70	70					5																	118505983		2202	4300	6502	SO:0001583	missense	1657			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.5497A>G	5.37:g.118505983A>G	ENSP00000309690:p.Thr1833Ala			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	1.142	-0.649136	0.03506	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09163	3.01;3.01	5.52	3.57	0.40892	.	0.395739	0.27275	N	0.020120	T	0.01940	0.0061	N	0.00347	-1.61	0.22199	N	0.999298	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40887	-0.9539	10	0.11182	T	0.66	-0.7386	2.8114	0.05443	0.3498:0.0:0.3273:0.3229	.	1833;1833	F5H269;Q9Y485	.;DMXL1_HUMAN	A	1833	ENSP00000309690:T1833A;ENSP00000439479:T1833A	ENSP00000309690:T1833A	T	+	1	0	DMXL1	118533882	0.002000	0.14202	0.949000	0.38748	0.910000	0.53928	0.366000	0.20365	0.558000	0.29135	0.455000	0.32223	ACA		0.348	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118505983	A	G	118505983	3	3	45	1	0	0	0	0	1	0	0	0	4594	391	14	2	5591	2	DMXL1	5	118505983	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	39480342	118505983	62409277	36	4401											
VEGFA	7422	broad.mit.edu	37	chr6	43746626	43746626	+	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	tctctccctacccattgcagAccaaagaaagatagagcaag	15	7	7	12	0	1	4	0	0	1	4	3	4	2	4	3	0	3	2	3	0	5	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:43746626A>G	ENST00000523873.1	+	5	431	c.393A>G	c.(391-393)agA>agG	p.R131R	VEGFA_ENST00000523125.1_Splice_Site_p.R131R|VEGFA_ENST00000518689.1_Splice_Site_p.R131R|VEGFA_ENST00000230480.6_Splice_Site_p.R103R|VEGFA_ENST00000413642.3_Splice_Site_p.R311R|VEGFA_ENST00000482630.2_Splice_Site_p.R311R|VEGFA_ENST00000372064.4_Splice_Site_p.R311R|VEGFA_ENST00000372067.3_Splice_Site_p.R311R|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523950.1_Splice_Site_p.R131R|VEGFA_ENST00000518824.1_Splice_Site_p.R131R|VEGFA_ENST00000520948.1_Splice_Site_p.R131R|VEGFA_ENST00000417285.2_Splice_Site_p.R311R|VEGFA_ENST00000372077.4_Splice_Site_p.R131R|VEGFA_ENST00000372055.4_Splice_Site_p.R311R|VEGFA_ENST00000425836.2_Splice_Site_p.R311R|VEGFA_ENST00000457104.2_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	131					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)	CCCATTGCAGACCAAAGAAAG	0.438																																						.											0													199	171	181					6																	43746626		2203	4300	6503	SO:0001630	splice_region_variant	7422			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.393-1A>G	6.37:g.43746626A>G			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	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991235	0.54041	.	.	ENSG00000112715	ENST00000519767	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.62159	0.2405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62927	-0.6750	4	.	.	.	.	13.9439	0.64073	1.0:0.0:0.0:0.0	.	.	.	.	A	283	.	.	T	+	1	0	VEGFA	43854604	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.043000	0.71004	2.288000	0.76882	0.533000	0.62120	ACC		0.438	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366	Silent	G	43746626	A	G	43746626	5	3	45	1	0	0	0	0	0	0	1	0	17147	289	10	2	951	2	VEGFA	6	43746626	Splice_Site	SNP	A	TCGA-KN-8430-01A-11D-2310-10		43746626	127368441	37	4402											
CAPN11	11131	broad.mit.edu;bcgsc.ca	37	chr6	44150954	44150954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatcagctgtttcctgAggctaaagaccatgttcagt	9	13	9	10	0	3	2	3	1	0	1	4	2	4	2	2	1	1	5	2	1	2	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:44150954A>G	ENST00000398776.1	+	21	2154	c.2116A>G	c.(2116-2118)Agg>Ggg	p.R706G	CAPN11_ENST00000542245.1_Missense_Mutation_p.R706G	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	706	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGTTTCCTGAGGCTAAAGAC	0.547																																						.											0													145	137	139					6																	44150954		1967	4158	6125	SO:0001583	missense	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.2116A>G	6.37:g.44150954A>G	ENSP00000381758:p.Arg706Gly		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282348	0.59867	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.31510	1.49;1.49	5.23	4.04	0.47022	EF-hand-like domain (1);	0.674554	0.12929	N	0.427557	T	0.49847	0.1581	M	0.92784	3.345	0.27095	N	0.962762	D	0.76494	0.999	D	0.65684	0.937	T	0.51466	-0.8702	10	0.87932	D	0	.	11.4587	0.50197	0.8492:0.1508:0.0:0.0	.	706	Q9UMQ6	CAN11_HUMAN	G	706	ENSP00000381758:R706G;ENSP00000441078:R706G	ENSP00000381758:R706G	R	+	1	2	CAPN11	44258932	0.993000	0.37304	1.000000	0.80357	0.909000	0.53808	2.567000	0.45956	0.952000	0.37798	0.523000	0.50628	AGG		0.547	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			G	44150954	A	G	44150954	3	3	45	1	0	0	0	0	1	0	0	0	2624	295	11	2	2198	2	CAPN11	6	44150954	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	404328	44150954	126964113	38	4403											
DST	667	broad.mit.edu	37	chr6	56422170	56422171	+	Frame_Shift_Ins	INS	-	-	A																															gggtcaattgacaagggcccINSaagaacactgaccataagtt																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:56422170_56422171insA	ENST00000361203.3	-	55	13960_13961	c.13953_13954insT	c.(13951-13956)cttgggfs	p.G4652fs	DST_ENST00000370769.4_Frame_Shift_Ins_p.G4654fs|DST_ENST00000244364.6_Frame_Shift_Ins_p.G2240fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.G2566fs|DST_ENST00000370754.5_Frame_Shift_Ins_p.G4832fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.G4328fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Frame_Shift_Ins_p.G2566fs			Q03001	DYST_HUMAN	dystonin	4652					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)			GACAAGGGCCCAAGAACACTGA	0.426																																						.											0																																										SO:0001589	frameshift_variant	667			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.13954dupT	6.37:g.56422172_56422172dupA	ENSP00000354508:p.Gly4652fs		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000361203.3	37																																																																																					0.426	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56422171	-	A	56422170	7	5	45	1	0	1	1	0	0	0	0	0	4783	594	21	0	8977	0	DST	6	56422170	Frame_Shift_Ins	INS	-	TCGA-KN-8430-01A-11D-2310-10	12271216	56422170	114692897	39	4404											
SAMD5	389432	broad.mit.edu	37	chr6	147830410	147830411	+	Frame_Shift_Ins	INS	-	-	C																															ctctcgcggccacacgaccgINSccccccgcagcagggagctg																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:147830410_147830411insC	ENST00000367474.1	+	1	348_349	c.346_347insC	c.(346-348)gccfs	p.A116fs		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	116													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		CCACACGACCGCCCCCCGCAGC	0.743																																						.											0																																										SO:0001589	frameshift_variant	389432			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.352dupC	6.37:g.147830416_147830416dupC	ENSP00000356444:p.Ala116fs			Frame_Shift_Ins	INS	ENST00000367474.1	37	CCDS34548.1																																																																																				0.743	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		C	147830411	-	C	147830410	7	5	45	1	0	1	1	0	0	0	0	0	13823	1087	38	0	348	0	SAMD5	6	147830410	Frame_Shift_Ins	INS	-	TCGA-KN-8430-01A-11D-2310-10	91408240	147830410	23284657	40	4405											
TTLL2	83887	bcgsc.ca	37	chr6	167753795	167753795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccgaatgaccgaacacaAcagtgttaaaccgtggcagc	13	8	9	11	3	0	1	0	1	0	0	1	3	1	1	3	1	4	2	3	1	5	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:167753795A>G	ENST00000239587.5	+	3	495	c.407A>G	c.(406-408)aAc>aGc	p.N136S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	136	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCGAACACAACAGTGTTAAA	0.522																																						.											0													158	139	145					6																	167753795		2203	4300	6503	SO:0001583	missense	83887			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.407A>G	6.37:g.167753795A>G	ENSP00000239587:p.Asn136Ser		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	a	0.436	-0.900972	0.02472	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02258	4.37	3.37	-4.51	0.03483	.	2.260220	0.02250	N	0.066544	T	0.00300	0.0009	N	0.05078	-0.115	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.47032	-0.9148	10	0.10111	T	0.7	.	0.763	0.01010	0.4153:0.1434:0.1229:0.3185	.	136	Q9BWV7	TTLL2_HUMAN	S	136;63	ENSP00000239587:N136S	ENSP00000239587:N136S	N	+	2	0	TTLL2	167673785	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.078000	0.14761	-0.589000	0.05874	-2.495000	0.00193	AAC		0.522	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		G	167753795	A	G	167753795	3	3	45	1	0	0	0	0	1	0	0	0	16724	43	2	2	417	2	TTLL2	6	167753795	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	19923385	167753795	3361272	41	4406											
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	98609129	98609129	+	Missense_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	cagcgtccatgattgcggtcGcccggtgcttcgcccagcca	5	8	12	16	5	0	1	0	1	0	0	3	1	1	1	4	2	4	1	4	2	0	2	rs145619183		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:98609129G>A	ENST00000359863.4	+	71	11475	c.11266G>A	c.(11266-11268)Gcc>Acc	p.A3756T	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3745T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3727T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3756	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			GATTGCGGTCGCCCGGTGCTT	0.612																																						.											0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	69	64	66		11179	3.8	0.3	7	dbSNP_134	66	0,8600		0,0,4300	no	missense	TRRAP	NM_003496.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3727/3831	98609129	1,13005	2203	4300	6503	SO:0001583	missense	8295			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.11266G>A	7.37:g.98609129G>A	ENSP00000352925:p.Ala3756Thr		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352462	0.82132	2.27E-4	0.0	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.81330	-1.48;-1.48	5.67	3.83	0.44106	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.055645	0.64402	D	0.000001	D	0.91212	0.7231	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.98;0.976;0.983	D	0.92652	0.6134	10	0.87932	D	0	.	15.096	0.72235	0.0:0.0:0.7422:0.2578	.	3727;3484;3756	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	3756;3727;3744	ENSP00000352925:A3756T;ENSP00000347733:A3727T	ENSP00000347733:A3727T	A	+	1	0	TRRAP	98447065	1.000000	0.71417	0.273000	0.24645	0.502000	0.33828	7.626000	0.83164	0.715000	0.32103	0.655000	0.94253	GCC		0.612	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98609129	G	A	98609129	3	1	45	1	0	0	0	0	1	0	0	0	16598	1087	38	1	11453	1	TRRAP	7	98609129	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		98609129	60529534	42	4407											
MYL10	93408	hgsc.bcm.edu;mdanderson.org	37	chr7	101267298	101267298	+	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	cagcctgggcgacagagccaGactctgtcaaacaaacaaat	15	5	9	12	1	2	2	1	0	1	2	2	3	2	2	2	1	4	0	2	1	3	0	rs186580198	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:101267298G>C	ENST00000223167.4	-	3	352	c.175C>G	c.(175-177)Ctg>Gtg	p.L59V		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	59						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						gacagagccagactctgtcaa	0.502													G|||	22	0.00439297	0.0015	0.0058	5008	,	,		14497	0		0.0129	False		,,,				2504	0.0031				Esophageal Squamous(24;575 709 17516 40384 51639)	.											0													2	4	3					7																	101267298		450	613	1063	SO:0001583	missense	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.175C>G	7.37:g.101267298G>C	ENSP00000223167:p.Leu59Val			Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	9	0.004120879120879121	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	G	2.238	-0.374445	0.05034	.	.	ENSG00000106436	ENST00000223167	T	0.23950	1.88	0.235	0.235	0.15431	.	.	.	.	.	T	0.18002	0.0432	M	0.72624	2.21	0.20563	N	0.999885	B	0.06786	0.001	B	0.01281	0.0	T	0.23440	-1.0188	8	0.33141	T	0.24	.	.	.	.	.	59	Q9BUA6	MYL10_HUMAN	V	59	ENSP00000223167:L59V	ENSP00000223167:L59V	L	-	1	2	MYL10	101054018	0.036000	0.19791	0.124000	0.21820	0.129000	0.20672	-0.572000	0.05881	0.308000	0.22923	0.313000	0.20887	CTG		0.502	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		C	101267298	G	C	101267298	3	2	45	1	0	0	0	0	1	0	0	0	10044	933	33	5	529	5	MYL10	7	101267298	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	2658169	101267298	57871365	43	4408											
SSPO	23145	broad.mit.edu;mdanderson.org	37	chr7	149480236	149480236	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacccagaaccagcaggaCgacttcctgacaccagccgg	11	5	9	16	2	1	2	1	1	0	1	2	4	2	3	5	2	3	1	5	2	1	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:149480236C>T	ENST00000378016.2	+	0	2118							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)			ACCAGCAGGACGACTTCCTGA	0.592																																						.											0													97	102	100					7																	149480236		2179	4270	6449			23145			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.149480236C>T			Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.592	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149480236	C	T	149480236	1	4	45	0	1	0	0	0	0	0	0	0	15188	535	19	1		1	SSPO	7	149480236	RNA	SNP	C	TCGA-KN-8430-01A-11D-2310-10	48212938	149480236	9658427	44	4409											
NOM1	64434	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr7	156742689	156742689	+	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	aaaagccgtaaggaactgagGaaggagaagcggcacctgcg	15	3	15	8	3	0	2	0	1	0	1	0	5	0	4	2	4	4	2	2	4	6	1	rs375339990		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:156742689G>A	ENST00000275820.3	+	1	273	c.258G>A	c.(256-258)agG>agA	p.R86R		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	86	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					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)		AGGAACTGAGGAAGGAGAAGC	0.701																																						.											0								G		2,3778		0,2,1888	5	7	6		258	-5	0.1	7		6	0,7658		0,0,3829	no	coding-synonymous	NOM1	NM_138400.1		0,2,5717	AA,AG,GG		0.0,0.0529,0.0175		86/861	156742689	2,11436	1890	3829	5719	SO:0001819	synonymous_variant	64434			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.258G>A	7.37:g.156742689G>A			Q96I08	Silent	SNP	ENST00000275820.3	37	CCDS34787.1																																																																																				0.701	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		A	156742689	G	A	156742689	2	1	45	1	0	0	0	0	0	0	0	1	10530	1165	41	3		3	NOM1	7	156742689	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	7262453	156742689	2395974	45	4410											
CLN8	2055	broad.mit.edu;hgsc.bcm.edu	37	chr8	1728652	1728652	+	Frame_Shift_Del	DEL	G	G	-																															actcagcagcttctcaatccGgtggactggaacttcgcaca																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:1728652delG	ENST00000331222.4	+	3	1027	c.780delG	c.(778-780)ccgfs	p.P260fs	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	260	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTCTCAATCCGGTGGACTGGA	0.547																																					Pancreas(155;338 1942 6138 10888 50612)	.											0													117	117	117					8																	1728652		2203	4300	6503	SO:0001589	frameshift_variant	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.780delG	8.37:g.1728652delG	ENSP00000328182:p.Pro260fs		Q86U71|Q96I95	Frame_Shift_Del	DEL	ENST00000331222.4	37	CCDS5956.1																																																																																				0.547	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		-	1728652	G	-	1728652	7	5	45	1	0	1	0	1	0	0	0	0	3546	1103	39	0	786	0	CLN8	8	1728652	Frame_Shift_Del	DEL	G	TCGA-KN-8430-01A-11D-2310-10		1728652	144635370	46	4411	107	2									
CLN8	2055	bcgsc.ca	37	chr8	1728653	1728653	+	Frame_Shift_Del	DEL	G	G	-																															ctcagcagcttctcaatccgGtggactggaacttcgcacag																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:1728653delG	ENST00000331222.4	+	3	1028	c.781delG	c.(781-783)gtgfs	p.V261fs	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	261	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCTCAATCCGGTGGACTGGAA	0.552																																					Pancreas(155;338 1942 6138 10888 50612)	.											0													116	116	116					8																	1728653		2203	4300	6503	SO:0001589	frameshift_variant	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.781delG	8.37:g.1728653delG	ENSP00000328182:p.Val261fs		Q86U71|Q96I95	Frame_Shift_Del	DEL	ENST00000331222.4	37	CCDS5956.1																																																																																				0.552	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		-	1728653	G	-	1728653	7	5	45	1	0	1	0	1	0	0	0	0	3546	1261	44	0	787	0	CLN8	8	1728653	Frame_Shift_Del	DEL	G	TCGA-KN-8430-01A-11D-2310-10	1	1728653	144635369	47	4412	107	2									
MTMR9	66036	broad.mit.edu	37	chr8	11162509	11162509	+	Frame_Shift_Del	DEL	A	A	-																															cagtactaagctattaccacAaaaaaaatgggatggtaagt																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:11162509delA	ENST00000221086.3	+	4	1050	c.577delA	c.(577-579)aaafs	p.K194fs	MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	194	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.			K -> R (in Ref. 2; BAA91170). {ECO:0000305}.		cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTATTACCACAAAAAAAATGG	0.453																																						.											0													97	82	87					8																	11162509		2203	4300	6503	SO:0001589	frameshift_variant	66036			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.577delA	8.37:g.11162509delA	ENSP00000221086:p.Lys194fs		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Del	DEL	ENST00000221086.3	37	CCDS5979.1																																																																																				0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		-	11162509	A	-	11162509	7	5	45	1	0	1	0	1	0	0	0	0	9950	131	5	0	591	0	MTMR9	8	11162509	Frame_Shift_Del	DEL	A	TCGA-KN-8430-01A-11D-2310-10	9433856	11162509	135201513	48	4413											
NSMAF	8439	bcgsc.ca	37	chr8	59512397	59512397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggctattgactagaaaGctcacatcatcaccatagaa	15	10	6	10	0	4	3	4	1	0	2	4	3	4	3	1	1	1	2	1	1	5	5			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:59512397G>T	ENST00000038176.3	-	18	1577	c.1365C>A	c.(1363-1365)agC>agA	p.S455R	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Missense_Mutation_p.S486R	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	455	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TGACTAGAAAGCTCACATCAT	0.438																																						.											0													84	84	84					8																	59512397		2203	4300	6503	SO:0001583	missense	8439			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.1365C>A	8.37:g.59512397G>T	ENSP00000038176:p.Ser455Arg		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821634	0.50633	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.80480	-1.38;-1.38	6.08	6.08	0.98989	BEACH domain (4);	0.115644	0.85682	D	0.000000	T	0.79269	0.4417	M	0.72894	2.215	0.47374	D	0.999403	B;B	0.18610	0.029;0.02	B;B	0.21917	0.022;0.037	T	0.72381	-0.4311	9	.	.	.	.	13.2481	0.60033	0.1122:0.0:0.8878:0.0	.	486;455	Q92636-2;Q92636	.;FAN_HUMAN	R	455;486	ENSP00000038176:S455R;ENSP00000411012:S486R	.	S	-	3	2	NSMAF	59674951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.236000	0.51336	2.894000	0.99253	0.591000	0.81541	AGC		0.438	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		T	59512397	G	T	59512397	3	4	45	1	0	0	0	0	1	0	0	0	10674	962	34	5	1444	5	NSMAF	8	59512397	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	48349888	59512397	86851625	49	4414											
SLC26A7	115111	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	92378833	92378833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcaggtgaaaattaTctcaataaacaacccgcttg	14	9	7	11	1	1	1	1	1	1	0	2	1	1	1	2	1	4	3	2	1	7	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:92378833T>C	ENST00000276609.3	+	14	1753	c.1514T>C	c.(1513-1515)aTc>aCc	p.I505T	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I505T|SLC26A7_ENST00000309536.2_Missense_Mutation_p.I505T	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)			GTGAAAATTATCTCAATAAAC	0.328																																						.											0													45	49	47					8																	92378833		2203	4300	6503	SO:0001583	missense	115111			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.1514T>C	8.37:g.92378833T>C	ENSP00000276609:p.Ile505Thr			Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741478	0.49151	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.88818	-2.43;-2.43;-2.43	5.33	5.33	0.75918	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.224247	0.31760	N	0.007101	D	0.85457	0.5701	L	0.57536	1.79	0.32391	N	0.553211	P;B	0.35272	0.493;0.324	B;B	0.28385	0.053;0.089	D	0.89445	0.3726	10	0.87932	D	0	.	12.8205	0.57690	0.0:0.0:0.0:1.0	.	505;505	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	T	505	ENSP00000428849:I505T;ENSP00000276609:I505T;ENSP00000309504:I505T	ENSP00000276609:I505T	I	+	2	0	SLC26A7	92448009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.465000	0.60141	2.025000	0.59659	0.533000	0.62120	ATC		0.328	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			C	92378833	T	C	92378833	3	2	45	1	0	0	0	0	1	0	0	0	14522	1435	50	4	1564	4	SLC26A7	8	92378833	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	32866436	92378833	53985189	50	4415											
C8orf85	441376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr8	117954928	117954928	+	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	agcccaaaagatgatgctgcGaatccggaataaagaaatgc	17	6	10	8	2	0	3	0	1	0	2	1	5	1	4	2	1	4	1	2	1	7	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:117954928G>A	ENST00000378279.3	+	2	501	c.456G>A	c.(454-456)gcG>gcA	p.A152A	AARD_ENST00000523536.1_3'UTR	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	152					lung development (GO:0030324)												ATGATGCTGCGAATCCGGAAT	0.502																																						.											0													68	63	65					8																	117954928		2203	4300	6503	SO:0001819	synonymous_variant	441376			AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"Alanine and arginine-rich domain-containing protein"		"chromosome 8 open reading frame 85"	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.456G>A	8.37:g.117954928G>A			A5PKU8	Silent	SNP	ENST00000378279.3	37	CCDS34935.1																																																																																				0.502	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357		A	117954928	G	A	117954928	2	1	45	1	0	0	0	0	0	0	0	1	2441	1045	37	1		1	C8orf85	8	117954928	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	25576095	117954928	28409094	51	4416											
RHPN1	114822	broad.mit.edu	37	chr8	144462920	144462920	+	Missense_Mutation	SNP	T	T	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	agctcgaccgtgaggatgacTtctgtgaggctgccgaggcc	7	8	15	11	3	1	3	0	3	1	0	2	6	1	4	3	3	2	2	3	3	0	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:144462920T>C	ENST00000289013.6	+	11	1479	c.1378T>C	c.(1378-1380)Ttc>Ctc	p.F460L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	485	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)			TGAGGATGACTTCTGTGAGGC	0.672																																						.											0													20	24	22					8																	144462920		2120	4235	6355	SO:0001583	missense	114822			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.1378T>C	8.37:g.144462920T>C	ENSP00000289013:p.Phe460Leu		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354829	0.24512	.	.	ENSG00000158106	ENST00000289013	T	0.17691	2.26	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	L	0.51914	1.62	0.49687	D	0.999819	D	0.89917	1.0	D	0.87578	0.998	T	0.02539	-1.1144	10	0.28530	T	0.3	-13.6319	13.1807	0.59653	0.0:0.0:0.0:1.0	.	460	Q8TCX5-2	.	L	460	ENSP00000289013:F460L	ENSP00000289013:F460L	F	+	1	0	RHPN1	144534063	1.000000	0.71417	0.998000	0.56505	0.091000	0.18340	7.502000	0.81614	1.712000	0.51347	0.260000	0.18958	TTC		0.672	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			C	144462920	T	C	144462920	3	2	45	1	0	0	0	0	1	0	0	0	13350	1609	56	2	1420	2	RHPN1	8	144462920	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	26507992	144462920	1901102	52	4417											
IFNA21	3452	mdanderson.org	37	chr9	21166520	21166520	+	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	aggccctcctattacccaggCtgtgggtctgaggcagatca	8	9	12	12	0	2	2	1	1	1	1	3	2	3	2	3	4	1	2	3	4	2	2	rs140583107		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:21166520C>G	ENST00000380225.1	-	1	139	c.92G>C	c.(91-93)aGc>aCc	p.S31T		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	31					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|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)|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)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATTACCCAGGCTGTGGGTCTG	0.522													C|||	1	0.000199681	0	0	5008	,	,		20238	0		0	False		,,,				2504	0.001					.											0													58	62	61					9																	21166520		2202	4280	6482	SO:0001583	missense	3452				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.92G>C	9.37:g.21166520C>G	ENSP00000369574:p.Ser31Thr		Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	4.824	0.153276	0.09185	.	.	ENSG00000137080	ENST00000380225	T	0.03413	3.94	3.16	-1.15	0.09709	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.796247	0.11535	N	0.554284	T	0.04182	0.0116	M	0.72118	2.19	0.09310	N	1	B	0.10296	0.003	B	0.23018	0.043	T	0.47573	-0.9107	10	0.20519	T	0.43	.	0.656	0.00834	0.1988:0.3809:0.1955:0.2248	.	31	P01568	IFN21_HUMAN	T	31	ENSP00000369574:S31T	ENSP00000369574:S31T	S	-	2	0	IFNA21	21156520	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.915000	0.04033	-0.239000	0.09710	0.644000	0.83932	AGC		0.522	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		G	21166520	C	G	21166520	3	3	45	1	0	0	0	0	1	0	0	0	7538	797	28	5	481	5	IFNA21	9	21166520	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10		21166520	120046911	53	4418											
FKTN	2218	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr9	108358893	108358893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagaatggagctggtttGtcaaaatccaaaggaagccg	13	9	11	8	1	1	1	1	0	0	1	3	3	3	3	3	3	2	2	3	3	6	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:108358893G>T	ENST00000223528.2	+	3	244	c.120G>T	c.(118-120)ttG>ttT	p.L40F	FKTN_ENST00000540160.1_Missense_Mutation_p.L40F|FKTN_ENST00000357998.5_Missense_Mutation_p.L40F|FKTN_ENST00000448551.2_Missense_Mutation_p.L40F|FKTN_ENST00000602661.1_Missense_Mutation_p.L40F|FKTN_ENST00000490134.1_3'UTR	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	40					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GAGCTGGTTTGTCAAAATCCA	0.323																																						.											0													90	91	90					9																	108358893		2203	4300	6503	SO:0001583	missense	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.120G>T	9.37:g.108358893G>T	ENSP00000223528:p.Leu40Phe		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617468	0.28801	.	.	ENSG00000106692	ENST00000223528;ENST00000448551;ENST00000540160;ENST00000357998	D;D;D;D	0.91068	-2.45;-2.78;-1.59;-2.78	5.83	3.16	0.36331	.	0.412429	0.26345	N	0.024912	T	0.74015	0.3661	N	0.04880	-0.145	0.23341	N	0.997877	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.0	T	0.58967	-0.7542	10	0.30078	T	0.28	-4.1447	1.2504	0.01981	0.5098:0.1362:0.1005:0.2535	.	40;40;40	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	F	40	ENSP00000223528:L40F;ENSP00000399140:L40F;ENSP00000439423:L40F;ENSP00000350687:L40F	ENSP00000223528:L40F	L	+	3	2	FKTN	107398714	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.290000	0.33319	0.912000	0.36772	-0.218000	0.12543	TTG		0.323	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		T	108358893	G	T	108358893	3	4	45	1	0	0	0	0	1	0	0	0	5919	1368	48	5	126	5	FKTN	9	108358893	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	87192373	108358893	32854538	54	4419											
RC3H2	54542	bcgsc.ca	37	chr9	125639808	125639808	+	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	tgttcctcgtggacaaccccCttgctgtcgcaaatctcggc	6	11	9	15	3	1	0	0	0	1	0	5	1	2	1	3	2	2	3	3	2	2	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:125639808C>T	ENST00000373670.1	-	8	1867	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	RC3H2_ENST00000357244.2_Missense_Mutation_p.G423R|RC3H2_ENST00000335387.5_Missense_Mutation_p.G423R|RC3H2_ENST00000423239.2_Missense_Mutation_p.G423R|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000373665.2_Missense_Mutation_p.G423R			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	423					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						GGACAACCCCCTTGCTGTCGC	0.418																																						.											0													276	270	272					9																	125639808		1898	4121	6019	SO:0001583	missense	54542			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.1267G>A	9.37:g.125639808C>T	ENSP00000362774:p.Gly423Arg		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810872	0.90707	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.54	5.54	0.83059	Zinc finger, CCCH-type (3);	0.109140	0.64402	N	0.000006	D	0.84660	0.5521	M	0.69463	2.115	0.54753	D	0.999985	B;D;D;D	0.76494	0.329;0.988;0.999;0.998	B;D;D;D	0.70487	0.327;0.954;0.969;0.948	T	0.82774	-0.0291	10	0.35671	T	0.21	-10.2029	18.4783	0.90800	0.0:1.0:0.0:0.0	.	423;294;423;423	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	R	423;423;294;423;423;423	ENSP00000362774:G423R;ENSP00000349783:G423R;ENSP00000411767:G423R;ENSP00000362769:G423R;ENSP00000335150:G423R	ENSP00000335150:G423R	G	-	1	0	RC3H2	124679629	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.043000	0.71004	2.627000	0.88993	0.637000	0.83480	GGG		0.418	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		T	125639808	C	T	125639808	3	4	45	1	0	0	0	0	1	0	0	0	13167	681	24	4	2438	4	RC3H2	9	125639808	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	17280915	125639808	15573623	55	4420											
LAMC3	10319	bcgsc.ca	37	chr9	133951292	133951292	+	Missense_Mutation	SNP	T	T	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	ctccaacaccagctacgcgcTtctctggaatctgctggagg	8	9	10	14	2	2	0	0	0	2	0	4	2	3	2	2	3	4	3	2	3	3	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:133951292T>C	ENST00000361069.4	+	21	3702	c.3569T>C	c.(3568-3570)cTt>cCt	p.L1190P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1190	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)		AGCTACGCGCTTCTCTGGAAT	0.627																																						.											0													51	45	47					9																	133951292		2203	4300	6503	SO:0001583	missense	10319			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.3569T>C	9.37:g.133951292T>C	ENSP00000354360:p.Leu1190Pro		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.859643	0.51376	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.31247	1.5	5.03	5.03	0.67393	.	0.073516	0.56097	D	0.000025	T	0.52964	0.1767	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.56323	-0.7998	10	0.62326	D	0.03	.	12.8413	0.57805	0.0:0.0:0.0:1.0	.	1190	Q9Y6N6	LAMC3_HUMAN	P	1190	ENSP00000354360:L1190P	ENSP00000347156:L1190P	L	+	2	0	LAMC3	132941113	0.937000	0.31787	0.601000	0.28877	0.099000	0.18886	2.761000	0.47589	2.027000	0.59764	0.397000	0.26171	CTT		0.627	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		C	133951292	T	C	133951292	3	2	45	1	0	0	0	0	1	0	0	0	8616	1609	56	2	3651	2	LAMC3	9	133951292	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	8311484	133951292	7262139	56	4421											
FRG2B	441581	mdanderson.org	37	chr10	135438998	135438998	+	Missense_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	cccagtgcaagccctggaacGtcccctatggtgggcatcac	8	7	11	15	1	1	0	1	0	0	0	2	1	2	1	4	3	3	2	4	3	3	1	rs200937977		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr10:135438998G>T	ENST00000425520.1	-	4	494	c.442C>A	c.(442-444)Cgt>Agt	p.R148S	FRG2B_ENST00000443774.1_Missense_Mutation_p.R149S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	148						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		GCCCTGGAACGTCCCCTATGG	0.527																																						.											0													114	128	123					10																	135438998		2199	4299	6498	SO:0001583	missense	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.442C>A	10.37:g.135438998G>T	ENSP00000401310:p.Arg148Ser		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	1.237	-0.622516	0.03636	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.43688	0.94;0.94	.	.	.	.	2.267060	0.02456	N	0.086049	T	0.27933	0.0688	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	8	0.36615	T	0.2	0.3215	.	.	.	.	148	Q96QU4	FRG2B_HUMAN	S	149;148	ENSP00000408343:R149S;ENSP00000401310:R148S	ENSP00000401310:R148S	R	-	1	0	FRG2B	135288988	0.004000	0.15560	0.164000	0.22755	0.165000	0.22458	-0.657000	0.05335	0.119000	0.18210	0.121000	0.15741	CGT		0.527	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438998	G	T	135438998	3	4	45	1	0	0	0	0	1	0	0	0	6047	1145	40	5	397	5	FRG2B	10	135438998	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		135438998	95749	57	4422											
FRG2B	441581	mdanderson.org	37	chr10	135439079	135439079	+	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	tcttgattttttattcaatgAcaagctgcactccttttctg	8	19	5	9	0	3	2	1	2	2	0	4	2	4	2	1	0	2	2	1	0	3	7	rs201410894		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr10:135439079A>T	ENST00000425520.1	-	4	413	c.361T>A	c.(361-363)Tca>Aca	p.S121T	FRG2B_ENST00000443774.1_Missense_Mutation_p.S122T	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	121						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		TTATTCAATGACAAGCTGCAC	0.512																																						.											0													31	38	36					10																	135439079		2125	4248	6373	SO:0001583	missense	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.361T>A	10.37:g.135439079A>T	ENSP00000401310:p.Ser121Thr		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.722229	0.00005	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.42900	0.96;0.96	.	.	.	.	.	.	.	.	T	0.09774	0.0240	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15321	-1.0441	7	0.02654	T	1	-1.6731	.	.	.	.	121	Q96QU4	FRG2B_HUMAN	T	122;121	ENSP00000408343:S122T;ENSP00000401310:S121T	ENSP00000401310:S121T	S	-	1	0	FRG2B	135289069	0.000000	0.05858	0.039000	0.18376	0.039000	0.13416	-0.790000	0.04604	-1.869000	0.01141	-1.957000	0.00481	TCA		0.512	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135439079	A	T	135439079	3	4	45	1	0	0	0	0	1	0	0	0	6047	275	10	5	478	5	FRG2B	10	135439079	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	81	135439079	95668	58	4423											
MUC6	4588	mdanderson.org	37	chr11	1018169	1018169	+	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	ctagtggggttgggagtaatCgtggtagtagaagttggggt	8	12	19	2	1	0	1	0	0	0	1	1	2	0	2	0	6	0	5	0	6	5	6	rs111749447|rs77647814	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1018169C>G	ENST00000421673.2	-	31	4682	c.4632G>C	c.(4630-4632)acG>acC	p.T1544T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1544	Pro-rich.|Thr-rich.			T -> S (in Ref. 2; AAQ82434). {ECO:0000305}.	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)		TGGGAGTAATCGTGGTAGTAG	0.552																																						.											0													238	243	241					11																	1018169		2145	4235	6380	SO:0001819	synonymous_variant	4588			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.4632G>C	11.37:g.1018169C>G			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		G	1018169	C	G	1018169	2	3	45	1	0	0	0	0	0	0	0	1	9980	871	31	5		5	MUC6	11	1018169	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10		1018169	133988347	59	4424											
MUC6	4588	mdanderson.org	37	chr11	1018348	1018348	+	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	cttgagcgttgttggtggagGaatggtacctgttggcgctg	5	13	17	6	2	0	1	0	1	0	0	0	3	0	3	1	5	2	5	1	5	2	5	rs202193006		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1018348G>A	ENST00000421673.2	-	31	4503	c.4453C>T	c.(4453-4455)Cct>Tct	p.P1485S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1485	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)		GTTGGTGGAGGAATGGTACCT	0.592																																						.											0													254	257	256					11																	1018348		2184	4263	6447	SO:0001583	missense	4588			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.4453C>T	11.37:g.1018348G>A	ENSP00000406861:p.Pro1485Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	4.529	0.098268	0.08681	.	.	ENSG00000184956	ENST00000421673	T	0.17054	2.3	2.28	-0.0764	0.13723	.	.	.	.	.	T	0.15089	0.0364	L	0.58101	1.795	0.09310	N	1	B	0.26809	0.16	B	0.20577	0.03	T	0.31530	-0.9940	9	0.19590	T	0.45	.	9.5843	0.39506	0.0:0.4031:0.5969:0.0	.	1485	Q6W4X9	MUC6_HUMAN	S	1485	ENSP00000406861:P1485S	ENSP00000406861:P1485S	P	-	1	0	MUC6	1008348	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.135000	0.15952	-0.162000	0.10964	0.313000	0.20887	CCT		0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018348	G	A	1018348	3	1	45	1	0	0	0	0	1	0	0	0	9980	1174	41	3	2878	3	MUC6	11	1018348	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	179	1018348	133988168	60	4425											
MUC2	4583	broad.mit.edu	37	chr11	1092953	1092953	+	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	acccatcaccaccaccactaCggtgaccccaaccccaacac	13	3	3	22	1	1	1	1	1	0	0	1	1	1	1	8	1	3	0	8	1	3	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1092953C>T	ENST00000441003.2	+	30	4799	c.4772C>T	c.(4771-4773)aCg>aTg	p.T1591M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Splice_Site_p.T1592M	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)		p.T1592M(1)|p.T1591M(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)	accaccactacggtgacccca	0.627																																						.											2	Substitution - Missense(2)	endometrium(2)											54	86	74					11																	1092953		1812	3313	5125	SO:0001583	missense	4583			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.4772C>T	11.37:g.1092953C>T	ENSP00000415183:p.Thr1591Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.179	-0.168424	0.06461	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.16743	2.32;2.56	1.75	-0.619	0.11572	.	6.725620	0.00827	U	0.001636	T	0.08846	0.0219	.	.	.	0.09310	N	1	D	0.60575	0.988	B	0.34489	0.184	T	0.24548	-1.0157	9	0.32370	T	0.25	.	3.3423	0.07123	0.2481:0.5888:0.0:0.163	.	1591	E7EUV1	.	M	1591;1592	ENSP00000415183:T1591M;ENSP00000351956:T1592M	ENSP00000351956:T1592M	T	+	2	0	MUC2	1082953	0.064000	0.20934	0.000000	0.03702	0.189000	0.23516	1.615000	0.36922	-0.313000	0.08728	0.121000	0.15741	ACG		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092953	C	T	1092953	3	4	45	1	0	0	0	0	1	0	0	0	9975	536	19	1	4890	1	MUC2	11	1092953	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	74605	1092953	133913563	61	4426											
MUC2	4583	mdanderson.org	37	chr11	1093047	1093047	+	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	accccaaccccaacacccacTggcacacagaccccaacccc	13	1	3	24	0	0	1	0	0	0	1	0	1	0	1	9	1	3	1	9	1	3	0	rs12575208		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1093047T>C	ENST00000441003.2	+	30	4893	c.4866T>C	c.(4864-4866)acT>acC	p.T1622T	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)	caacacccactggcacacaga	0.632																																						.											0													129	166	153					11																	1093047		1887	3615	5502	SO:0001819	synonymous_variant	4583			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.4866T>C	11.37:g.1093047T>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093047	T	C	1093047	2	2	45	1	0	0	0	0	0	0	0	1	9975	1567	55	2		2	MUC2	11	1093047	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	94	1093047	133913469	62	4427											
WEE1	7465	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	9610060	9610060	+	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	gagcactcttcactgaccggAtggccactaggtccaccacc	9	7	9	16	1	2	1	1	1	1	0	3	3	3	2	5	3	1	1	5	3	1	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:9610060A>T	ENST00000450114.2	+	11	2105	c.1852A>T	c.(1852-1854)Atg>Ttg	p.M618L	WEE1_ENST00000299613.6_Missense_Mutation_p.M404L	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	618					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CACTGACCGGATGGCCACTAG	0.428																																						.											0													138	133	135					11																	9610060		2201	4294	6495	SO:0001583	missense	7465			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1852A>T	11.37:g.9610060A>T	ENSP00000402084:p.Met618Leu		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242223	0.22796	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000527848	T;T;T	0.51574	0.83;0.7;0.99	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.105878	0.64402	D	0.000003	T	0.23370	0.0565	N	0.08118	0	0.33277	D	0.561807	B	0.10296	0.003	B	0.04013	0.001	T	0.26573	-1.0099	10	0.07482	T	0.82	-15.606	9.7489	0.40464	0.9229:0.0:0.0771:0.0	.	618	P30291	WEE1_HUMAN	L	618;404;70	ENSP00000402084:M618L;ENSP00000299613:M404L;ENSP00000432284:M70L	ENSP00000299613:M404L	M	+	1	0	WEE1	9566636	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.551000	0.53698	2.014000	0.59158	0.460000	0.39030	ATG		0.428	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		T	9610060	A	T	9610060	3	4	45	1	0	0	0	0	1	0	0	0	17341	333	12	5	1894	5	WEE1	11	9610060	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	8517013	9610060	125396456	63	4428											
CD44	960	broad.mit.edu;bcgsc.ca	37	chr11	35226107	35226107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacagctacccagaaggAacagtggtttggcaacagat	16	6	11	8	0	0	3	0	0	0	3	0	4	0	4	1	3	5	3	1	3	5	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:35226107A>G	ENST00000428726.2	+	10	1325	c.1202A>G	c.(1201-1203)gAa>gGa	p.E401G	CD44_ENST00000433892.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.E358G|CD44_ENST00000433354.2_Missense_Mutation_p.E402G|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.E401G|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	401	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	ACCCAGAAGGAACAGTGGTTT	0.453																																						.											0													170	143	152					11																	35226107		2202	4298	6500	SO:0001583	missense	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1202A>G	11.37:g.35226107A>G	ENSP00000398632:p.Glu401Gly		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.761218	0.31137	.	.	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000437706;ENST00000428726;ENST00000531110;ENST00000528672	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	5.05	3.94	0.45596	.	0.251258	0.28307	N	0.015828	T	0.43166	0.1235	M	0.72118	2.19	0.22017	N	0.999417	P;D	0.71674	0.728;0.998	B;D	0.72982	0.425;0.979	T	0.18493	-1.0335	10	0.40728	T	0.16	-18.3994	6.7294	0.23375	0.8981:0.0:0.1019:0.0	.	358;401	P16070-4;P16070	.;CD44_HUMAN	G	358;402;401;401;113;53	ENSP00000389830:E358G;ENSP00000414567:E402G;ENSP00000403990:E401G;ENSP00000398632:E401G;ENSP00000436549:E113G;ENSP00000431860:E53G	ENSP00000389830:E358G	E	+	2	0	CD44	35182683	0.806000	0.28996	0.621000	0.29145	0.003000	0.03518	3.848000	0.55903	2.199000	0.70637	0.533000	0.62120	GAA		0.453	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		G	35226107	A	G	35226107	3	3	45	1	0	0	0	0	1	0	0	0	3017	246	9	4	1240	4	CD44	11	35226107	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	25616047	35226107	99780409	64	4429											
SIPA1	6494	broad.mit.edu;bcgsc.ca	37	chr11	65409950	65409950	+	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	tcagctccggacactccgtgGcaccatctcggaggacgcgc	7	6	12	16	5	2	0	1	0	1	0	5	3	4	3	3	4	1	2	3	4	0	0			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:65409950G>C	ENST00000394224.3	+	4	1120	c.824G>C	c.(823-825)gGc>gCc	p.G275A	SIPA1_ENST00000527525.1_Missense_Mutation_p.G275A|SIPA1_ENST00000394227.3_Missense_Mutation_p.G275A|SIPA1_ENST00000534313.1_Missense_Mutation_p.G275A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	275					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						ACACTCCGTGGCACCATCTCG	0.682																																						.											0													25	24	25					11																	65409950		2201	4295	6496	SO:0001583	missense	6494			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.824G>C	11.37:g.65409950G>C	ENSP00000377771:p.Gly275Ala		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073406	0.76415	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	4.0	4.0	0.46444	.	0.000000	0.50627	U	0.000103	D	0.96476	0.8850	M	0.84219	2.685	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.96844	0.9620	10	0.72032	D	0.01	-23.9387	13.9767	0.64277	0.0:0.0:1.0:0.0	.	275;275	F6RY50;Q96FS4	.;SIPA1_HUMAN	A	275	ENSP00000436269:G275A;ENSP00000433686:G275A;ENSP00000377771:G275A;ENSP00000377774:G275A	ENSP00000377771:G275A	G	+	2	0	SIPA1	65166526	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	7.634000	0.83273	2.240000	0.73641	0.455000	0.32223	GGC		0.682	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		C	65409950	G	C	65409950	3	2	45	1	0	0	0	0	1	0	0	0	14328	1203	42	5	834	5	SIPA1	11	65409950	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	30183843	65409950	69596566	65	4430											
MYO7A	4647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	76917244	76917244	+	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	tacttccctgatgacactgaCgaggtgagggtcaccggctt	8	10	12	11	2	1	4	1	4	0	0	2	5	2	4	2	3	1	1	2	3	1	3	rs375992788		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:76917244C>G	ENST00000409709.3	+	41	6011	c.5739C>G	c.(5737-5739)gaC>gaG	p.D1913E	MYO7A_ENST00000409619.2_Missense_Mutation_p.D1864E|MYO7A_ENST00000458637.2_Missense_Mutation_p.D1875E|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1913	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						ATGACACTGACGAGGTGAGGG	0.607																																						.											0													70	77	75					11																	76917244		1972	4145	6117	SO:0001583	missense	4647			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.5739C>G	11.37:g.76917244C>G	ENSP00000386331:p.Asp1913Glu		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646762	0.29246	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	4.54	-3.63	0.04529	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	U	0.000000	T	0.79633	0.4479	M	0.66939	2.045	0.80722	D	1	B;D	0.76494	0.174;0.999	B;D	0.69654	0.132;0.965	T	0.77259	-0.2654	10	0.38643	T	0.18	.	12.1312	0.53944	0.0:0.2909:0.0:0.7091	.	1875;1913	F8VUN5;Q13402	.;MYO7A_HUMAN	E	1913;1875;1864;1086;1912;1882;1789;1055;528	ENSP00000386331:D1913E;ENSP00000392185:D1875E;ENSP00000386635:D1864E;ENSP00000417017:D1055E	ENSP00000345075:D1789E	D	+	3	2	MYO7A	76594892	0.116000	0.22171	0.565000	0.28409	0.133000	0.20885	-0.586000	0.05787	-0.625000	0.05604	-0.299000	0.09455	GAC		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		G	76917244	C	G	76917244	3	3	45	1	0	0	0	0	1	0	0	0	10082	535	19	5	5931	5	MYO7A	11	76917244	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	11507294	76917244	58089272	66	4431											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	92543184	92543184	+	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	cactacaacacctgtgtctaTgagaacacagccaccaaggc	14	6	7	14	0	1	1	0	1	1	1	1	2	1	1	3	1	4	0	3	1	5	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:92543184T>A	ENST00000298047.6	+	12	9440	c.9423T>A	c.(9421-9423)taT>taA	p.Y3141*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y3141*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y2991*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3141	Cadherin 29. {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)				CCTGTGTCTATGAGAACACAG	0.527										TCGA Ovarian(4;0.039)																												.											0													58	59	59					11																	92543184		1943	4133	6076	SO:0001587	stop_gained	120114			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.9423T>A	11.37:g.92543184T>A	ENSP00000298047:p.Tyr3141*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	51	17.442473	0.99886	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.16	2.85	0.33270	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2732	0.31857	0.0:0.229:0.0:0.771	.	.	.	.	X	3141;3141;2991	.	ENSP00000298047:Y3141X	Y	+	3	2	FAT3	92182832	0.997000	0.39634	1.000000	0.80357	0.922000	0.55478	0.366000	0.20365	0.321000	0.23259	0.460000	0.39030	TAT		0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92543184	T	A	92543184	4	1	45	1	0	0	0	0	0	1	0	0	5691	1471	51	5	9469	5	FAT3	11	92543184	Nonsense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	15625940	92543184	42463332	67	4432											
OR10G8	219869	mdanderson.org	37	chr11	123900385	123900385	+	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	catgggccttccccatgcccCagcgctggacgcccccctct	4	7	9	21	2	1	0	0	0	1	0	2	1	2	1	8	2	2	1	8	2	0	1	rs149524303	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:123900385C>A	ENST00000431524.1	+	1	89	c.56C>A	c.(55-57)cCa>cAa	p.P19Q		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	19						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		CCCCATGCCCCAGCGCTGGAC	0.567																																						.											0																																										SO:0001583	missense	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.56C>A	11.37:g.123900385C>A	ENSP00000389072:p.Pro19Gln		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342383	0.24339	.	.	ENSG00000234560	ENST00000431524	T	0.00428	7.44	2.95	2.95	0.34219	.	0.136796	0.33670	N	0.004664	T	0.00384	0.0012	M	0.64170	1.965	0.25608	N	0.986521	B	0.12630	0.006	B	0.15870	0.014	T	0.37798	-0.9690	10	0.32370	T	0.25	.	8.8035	0.34923	0.2255:0.7745:0.0:0.0	.	19	Q8NGN5	O10G8_HUMAN	Q	19	ENSP00000389072:P19Q	ENSP00000389072:P19Q	P	+	2	0	OR10G8	123405595	0.001000	0.12720	0.073000	0.20177	0.007000	0.05969	1.082000	0.30803	1.634000	0.50500	0.585000	0.79938	CCA		0.567	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900385	C	A	123900385	3	1	45	1	0	0	0	0	1	0	0	0	10903	594	21	5	58	5	OR10G8	11	123900385	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	31357201	123900385	11106131	68	4433			1	33		2	2	27	N	G_C	9.070317e-05
OR10G8	219869	mdanderson.org	37	chr11	123900411	123900411	+	Missense_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	tggacgcccccctctttggaGtcttcctggtggtttacgtg	3	14	12	12	2	2	0	0	0	2	0	3	2	3	2	4	4	1	1	4	4	1	4	rs202220125	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:123900411G>A	ENST00000431524.1	+	1	115	c.82G>A	c.(82-84)Gtc>Atc	p.V28I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	28						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		CCTCTTTGGAGTCTTCCTGGT	0.572													G|||	7	0.00139776	0	0.0043	5008	,	,		19799	0		0.001	False		,,,				2504	0.0031					.											0													195	177	183					11																	123900411		2201	4299	6500	SO:0001583	missense	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.82G>A	11.37:g.123900411G>A	ENSP00000389072:p.Val28Ile		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	4.296	0.054107	0.08291	.	.	ENSG00000234560	ENST00000431524	T	0.02916	4.11	2.95	-4.35	0.03656	.	0.824866	0.10366	N	0.683403	T	0.01254	0.0041	N	0.16066	0.365	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48258	-0.9051	10	0.10377	T	0.69	.	1.3401	0.02153	0.2804:0.2787:0.3033:0.1376	.	28	Q8NGN5	O10G8_HUMAN	I	28	ENSP00000389072:V28I	ENSP00000389072:V28I	V	+	1	0	OR10G8	123405621	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-3.513000	0.00446	-1.037000	0.03283	-0.324000	0.08512	GTC		0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900411	G	A	123900411	3	1	45	1	0	0	0	0	1	0	0	0	10903	1029	36	4	84	4	OR10G8	11	123900411	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	26	123900411	11106105	69	4434			1	33		2	2	27	N	G_C	9.070317e-05
ADAMTS8	11095	ucsc.edu;bcgsc.ca	37	chr11	130284611	130284611	+	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	agaggtgttggggcagtggcGgaaatccggcccaaagatct	10	7	16	8	2	1	2	0	0	1	2	2	3	2	3	2	6	0	2	2	6	2	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:130284611G>A	ENST00000257359.6	-	5	2087	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	461	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCAGTGGCGGAAATCCGGC	0.677																																						.											0													49	56	54					11																	130284611		2051	4202	6253	SO:0001583	missense	11095			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.1381C>T	11.37:g.130284611G>A	ENSP00000257359:p.Arg461Cys		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673513	0.67928	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.60797	0.16	5.59	4.68	0.58851	.	0.602094	0.19398	N	0.115243	T	0.72187	0.3429	M	0.76938	2.355	0.40367	D	0.9793	D	0.89917	1.0	P	0.62560	0.904	T	0.75731	-0.3215	10	0.87932	D	0	.	10.5172	0.44896	0.1472:0.0:0.8528:0.0	.	461	Q9UP79	ATS8_HUMAN	C	461;490	ENSP00000257359:R461C	ENSP00000257359:R461C	R	-	1	0	ADAMTS8	129789821	0.996000	0.38824	1.000000	0.80357	0.914000	0.54420	1.602000	0.36783	1.356000	0.45884	0.655000	0.94253	CGC		0.677	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		A	130284611	G	A	130284611	3	1	45	1	0	0	0	0	1	0	0	0	272	1116	39	1	1308	1	ADAMTS8	11	130284611	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	6384200	130284611	4721905	70	4435											
TAS2R46	259292	mdanderson.org	37	chr12	11214005	11214005	+	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	tcctttcacccagtacctcaCatgccacaaaactgaaagaa	15	8	4	14	0	2	2	2	1	0	1	3	2	3	2	4	0	3	1	4	0	5	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:11214005C>T	ENST00000533467.1	-	1	888	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	297				HV -> QM (in Ref. 3). {ECO:0000305}.	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)		CAGTACCTCACATGCCACAAA	0.418																																						.											0													182	183	183					12																	11214005		2032	4234	6266	SO:0001583	missense	259292			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.889G>A	12.37:g.11214005C>T	ENSP00000436450:p.Val297Met		P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005081	0.07773	.	.	ENSG00000226761	ENST00000533467	T	0.37584	1.19	2.54	1.59	0.23543	.	.	.	.	.	T	0.25457	0.0619	L	0.33245	0.995	0.09310	N	1	B	0.15930	0.015	B	0.26969	0.075	T	0.27468	-1.0073	9	0.36615	T	0.2	.	4.5917	0.12310	0.0:0.3575:0.432:0.2105	.	297	P59540	T2R46_HUMAN	M	297	ENSP00000436450:V297M	ENSP00000436450:V297M	V	-	1	0	TAS2R46	11105272	0.000000	0.05858	0.004000	0.12327	0.077000	0.17291	-1.385000	0.02540	0.356000	0.24157	0.194000	0.17425	GTG		0.418	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		T	11214005	C	T	11214005	3	4	45	1	0	0	0	0	1	0	0	0	15579	478	17	4	44	4	TAS2R46	12	11214005	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10		11214005	122637890	71	4436											
TAS2R30	259293	mdanderson.org	37	chr12	11286736	11286736	+	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	aaggagatcttttgtctcttGacccactcaatggaatttac	11	14	7	9	0	3	2	1	1	2	1	4	4	3	3	1	2	1	0	1	2	4	5	rs112605675		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:11286736G>C	ENST00000539585.1	-	1	507	c.108C>G	c.(106-108)gtC>gtG	p.V36V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	36					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)	p.V36V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTTGTCTCTTGACCCACTCAA	0.388																																						.											1	Substitution - coding silent(1)	lung(1)											67	66	66					12																	11286736		2014	4225	6239	SO:0001819	synonymous_variant	259293			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.108C>G	12.37:g.11286736G>C			Q645X7	Silent	SNP	ENST00000539585.1	37	CCDS53750.1																																																																																				0.388	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		C	11286736	G	C	11286736	2	2	45	1	0	0	0	0	0	0	0	1	15570	1277	45	5		5	TAS2R30	12	11286736	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	72731	11286736	122565159	72	4437											
PRB2	653247	mdanderson.org	37	chr12	11546751	11546751	+	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	ggtgggggaccttgaggtttGttgcctccttgtgggggtgg	2	13	20	6	0	0	1	0	1	0	0	1	2	1	2	3	7	1	2	3	7	0	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:11546751G>C	ENST00000389362.4	-	3	296	c.261C>G	c.(259-261)aaC>aaG	p.N87K	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	87	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)			CTTGAGGTTTGTTGCCTCCTT	0.607																																						.											0																																										SO:0001583	missense	653247			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.261C>G	12.37:g.11546751G>C	ENSP00000374013:p.Asn87Lys		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	1.981	-0.434036	0.04669	.	.	ENSG00000121335	ENST00000389362	T	0.03982	3.74	1.06	-2.12	0.07165	.	.	.	.	.	T	0.03220	0.0094	L	0.43152	1.355	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.50825	-0.8782	9	0.05620	T	0.96	.	3.3787	0.07247	0.2438:0.2649:0.4913:0.0	.	87	P02812	PRB2_HUMAN	K	87	ENSP00000374013:N87K	ENSP00000374013:N87K	N	-	3	2	PRB2	11438018	.	.	0.002000	0.10522	0.047000	0.14425	.	.	-1.987000	0.00982	-1.380000	0.01176	AAC		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546751	G	C	11546751	3	2	45	1	0	0	0	0	1	0	0	0	12443	1368	48	5	993	5	PRB2	12	11546751	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	260015	11546751	122305144	73	4438											
CDKN1B	1027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	12871758	12871758	+	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	aaaaatttcccctgcgcttaGattcttctactcaaaacaaa	15	12	3	11	1	3	1	1	0	2	1	4	1	4	1	2	0	3	1	2	0	7	5			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:12871758G>C	ENST00000228872.4	+	2	1191		c.e2-1		CDKN1B_ENST00000396340.1_Intron|CDKN1B_ENST00000477087.1_Splice_Site	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|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 kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCTGCGCTTAGATTCTTCTAC	0.438																																						.											0													72	86	81					12																	12871758		2203	4300	6503	SO:0001630	splice_region_variant	1027			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.476-1G>C	12.37:g.12871758G>C			Q16307|Q5U0H2|Q9BUS6	Splice_Site	SNP	ENST00000228872.4	37	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301381	0.60195	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000442489	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7715	0.85538	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDKN1B	12763025	1.000000	0.71417	0.994000	0.49952	0.746000	0.42486	6.881000	0.75584	2.384000	0.81235	0.655000	0.94253	.		0.438	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064	Intron	C	12871758	G	C	12871758	5	2	45	1	0	0	0	0	0	0	1	0	3159	956	33	5	481	5	CDKN1B	12	12871758	Splice_Site	SNP	G	TCGA-KN-8430-01A-11D-2310-10	1325007	12871758	120980137	74	4439											
KIF21A	55605	hgsc.bcm.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-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	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_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000544797.2_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																																						.											2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605			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			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	45	1	0	0	0	0	0	0	0	1	8288	680	24	4		4	KIF21A	12	39735383	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	26863625	39735383	94116512	75	4440											
TBK1	29110	broad.mit.edu	37	chr12	64873884	64873884	+	Missense_Mutation	SNP	T	T	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	ctggagtggagacatgcctgTttcttgcagtctttctcggt	5	15	12	9	1	3	1	0	0	3	1	4	3	3	2	1	3	2	2	1	3	0	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:64873884T>C	ENST00000331710.5	+	7	1133	c.794T>C	c.(793-795)gTt>gCt	p.V265A		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GACATGCCTGTTTCTTGCAGT	0.398																																						.											0													201	191	194					12																	64873884		2203	4300	6503	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.794T>C	12.37:g.64873884T>C	ENSP00000329967:p.Val265Ala		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.637133	0.29157	.	.	ENSG00000183735	ENST00000331710	T	0.64803	-0.12	4.71	3.57	0.40892	Protein kinase, catalytic domain (1);	0.553565	0.19822	N	0.105285	T	0.31327	0.0793	N	0.01874	-0.695	0.30188	N	0.79977	B	0.02656	0.0	B	0.08055	0.003	T	0.20907	-1.0261	9	.	.	.	-3.3263	9.9944	0.41891	0.0:0.0804:0.0:0.9196	.	265	Q9UHD2	TBK1_HUMAN	A	265	ENSP00000329967:V265A	.	V	+	2	0	TBK1	63160151	0.968000	0.33430	0.914000	0.36105	0.893000	0.52053	4.470000	0.60175	0.795000	0.33922	0.477000	0.44152	GTT		0.398	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		C	64873884	T	C	64873884	3	2	45	1	0	0	0	0	1	0	0	0	15634	1725	60	2	816	2	TBK1	12	64873884	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	25138501	64873884	68978011	76	4441											
GPR133	283383	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	131593399	131593399	+	Missense_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	gtcggaggacagcaagcaccGttactactatgggatgggat	11	8	14	8	2	0	0	0	0	0	0	1	4	0	4	1	4	4	3	1	4	4	3	rs141128784		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:131593399G>A	ENST00000261654.5	+	18	2577	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	GPR133_ENST00000376682.4_Missense_Mutation_p.R359H|GPR133_ENST00000535015.1_Missense_Mutation_p.R705H|GPR133_ENST00000543617.1_Missense_Mutation_p.R192H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	673					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)	p.R673H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.607													g|||	1	0.000199681	8e-04	0	5008	,	,		11651	0		0	False		,,,				2504	0					.											1	Substitution - Missense(1)	prostate(1)						A	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	114	105	108		2018	-5.2	0.3	12	dbSNP_134	108	0,8600		0,0,4300	no	missense	GPR133	NM_198827.3	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	673/875	131593399	4,13002	2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2018G>A	12.37:g.131593399G>A	ENSP00000261654:p.Arg673His		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.250340	0.39797	9.08E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.42513	1.18;1.21;0.97;0.97	4.78	-5.21	0.02815	GPCR, family 2-like (1);	0.429012	0.26038	N	0.026706	T	0.34629	0.0904	M	0.70842	2.15	0.20074	N	0.999931	B;B;B	0.31351	0.001;0.32;0.216	B;B;B	0.33568	0.005;0.064;0.166	T	0.21415	-1.0246	10	0.33141	T	0.24	.	8.6912	0.34267	0.2113:0.0:0.4899:0.2988	.	705;192;673	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	H	673;705;359;192	ENSP00000261654:R673H;ENSP00000444425:R705H;ENSP00000365872:R359H;ENSP00000438021:R192H	ENSP00000261654:R673H	R	+	2	0	GPR133	130159352	0.869000	0.29996	0.336000	0.25522	0.819000	0.46315	0.830000	0.27462	-1.407000	0.02043	-1.480000	0.00990	CGT		0.607	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131593399	G	A	131593399	3	1	45	1	0	0	0	0	1	0	0	0	6643	1145	40	1	2088	1	GPR133	12	131593399	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	66719515	131593399	2258496	77	4442											
SKA3	221150	hgsc.bcm.edu	37	chr13	21742126	21742126	+	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	ccttttaacagagctgcttaCcttttattattcctcgcatt	8	18	4	11	1	0	1	0	0	0	1	2	1	1	1	3	0	4	3	3	0	4	8			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr13:21742126C>A	ENST00000314759.5	-	4	868		c.e4+1		SKA3_ENST00000400018.3_Splice_Site	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGCTGCTTACCTTTTATTAT	0.284																																						.											0													63	58	60					13																	21742126		2203	4297	6500	SO:0001630	splice_region_variant	221150			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.743+1G>T	13.37:g.21742126C>A			A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Splice_Site	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052163	0.36181	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6803	0.77364	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SKA3	20640126	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	4.395000	0.59678	2.777000	0.95525	0.655000	0.94253	.		0.284	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061	Intron	A	21742126	C	A	21742126	5	1	45	1	0	0	0	0	0	0	1	0	14354	521	18	5	565	5	SKA3	13	21742126	Splice_Site	SNP	C	TCGA-KN-8430-01A-11D-2310-10		21742126	93427752	78	4443											
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-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	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																																						.											0													81	76	78					13																	25671027		2203	4300	6503	SO:0001583	missense	5042			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		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	45	1	0	0	0	0	1	0	0	0	11365	131	5	4	693	4	PABPC3	13	25671027	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	3928901	25671027	89498851	79	4444											
PDS5B	23047	bcgsc.ca	37	chr13	33253045	33253045	+	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	attgtctcatgaaccatcctGatttagcaaaagacttaaca	15	12	5	9	0	1	3	1	2	1	1	3	3	2	3	2	0	3	1	2	0	5	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr13:33253045G>T	ENST00000315596.10	+	10	1222	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	346					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)		GAACCATCCTGATTTAGCAAA	0.343																																						.											0													99	87	91					13																	33253045		1831	4086	5917	SO:0001583	missense	23047			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.1036G>T	13.37:g.33253045G>T	ENSP00000313851:p.Asp346Tyr		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863929	0.91511	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.69806	-0.43	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	L	0.59436	1.845	0.80722	D	1	P;P	0.44877	0.845;0.658	P;B	0.48524	0.58;0.211	T	0.70963	-0.4729	10	0.38643	T	0.18	-1.4873	19.3744	0.94502	0.0:0.0:1.0:0.0	.	346;346	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	Y	346	ENSP00000313851:D346Y	ENSP00000313851:D346Y	D	+	1	0	PDS5B	32151045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.711000	0.98735	2.585000	0.87301	0.561000	0.74099	GAT		0.343	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		T	33253045	G	T	33253045	3	4	45	1	0	0	0	0	1	0	0	0	11692	1290	45	5	1070	5	PDS5B	13	33253045	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	7582018	33253045	81916833	80	4445											
ZNF219	51222	mdanderson.org	37	chr14	21560706	21560706	+	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	gttgcctcacgttcgggctcCggctccggctccggctgggg	1	9	16	15	5	1	0	1	0	0	0	5	0	4	0	4	6	1	6	4	6	0	2	rs370417468|rs1065496	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:21560706C>G	ENST00000360947.3	-	3	1161	c.750G>C	c.(748-750)ccG>ccC	p.P250P	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Silent_p.P250P|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Silent_p.P250P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	250					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		gttcgggctccggctccggct	0.726											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	448	0.0894569	0.1097	0.049	5008	,	,		11470	0.0942		0.0785	False		,,,				2504	0.0971					.											0								C	,,	331,3629		14,303,1663	6	7	7		750,750,750	-8.1	0.1	14	dbSNP_86	7	434,7432		9,416,3508	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF219	NM_001101672.1,NM_001102454.1,NM_016423.2	,,	23,719,5171	GG,GC,CC		5.5174,8.3586,6.4688	,,	250/723,250/723,250/723	21560706	765,11061	1980	3933	5913	SO:0001819	synonymous_variant	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.750G>C	14.37:g.21560706C>G		749	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Silent	SNP	ENST00000360947.3	37	CCDS9568.1																																																																																				0.726	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			G	21560706	C	G	21560706	2	3	45	1	0	0	0	0	0	0	0	1	17770	639	23	5		5	ZNF219	14	21560706	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10		21560706	85788834	81	4446											
FLRT2	23768	mdanderson.org;bcgsc.ca	37	chr14	86087938	86087938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcatttccctggggctctActcacaggtgtccaaactcc	8	12	7	14	0	3	0	2	0	1	0	6	0	6	0	3	3	2	1	3	3	3	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:86087938A>G	ENST00000330753.4	+	2	847	c.80A>G	c.(79-81)tAc>tGc	p.Y27C	FLRT2_ENST00000554746.1_Missense_Mutation_p.Y27C	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	27					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGGGGCTCTACTCACAGGTG	0.517																																						.											0													93	90	91					14																	86087938		2203	4300	6503	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.80A>G	14.37:g.86087938A>G	ENSP00000332879:p.Tyr27Cys		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473548	0.43942	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.55588	0.51;0.51	5.73	0.269	0.15631	.	0.474802	0.24024	N	0.042253	T	0.27765	0.0683	N	0.14661	0.345	0.28151	N	0.929377	B	0.02656	0.0	B	0.01281	0.0	T	0.07908	-1.0748	10	0.39692	T	0.17	-5.2127	4.1128	0.10067	0.4357:0.3756:0.0674:0.1213	.	27	O43155	FLRT2_HUMAN	C	27	ENSP00000332879:Y27C;ENSP00000451050:Y27C	ENSP00000332879:Y27C	Y	+	2	0	FLRT2	85157691	0.034000	0.19679	0.993000	0.49108	0.996000	0.88848	0.102000	0.15272	0.084000	0.17077	0.533000	0.62120	TAC		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			G	86087938	A	G	86087938	3	3	45	1	0	0	0	0	1	0	0	0	5939	391	14	2	82	2	FLRT2	14	86087938	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	64527232	86087938	21261602	82	4447											
CLMN	79789	broad.mit.edu	37	chr14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-																															ccacatgtttccttttttccTtttttttactactgattgat																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:95662949delT	ENST00000298912.4	-	10	2707	c.2594delA	c.(2593-2595)aagfs	p.K865fs	CLMN_ENST00000557215.1_5'Flank|CLMN_ENST00000556441.1_5'Flank	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.K865fs*10(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408																																						.											1	Deletion - Frameshift(1)	large_intestine(1)											152	132	139					14																	95662949		2203	4300	6503	SO:0001589	frameshift_variant	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2594delA	14.37:g.95662949delT	ENSP00000298912:p.Lys865fs		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Frame_Shift_Del	DEL	ENST00000298912.4	37	CCDS9933.1																																																																																				0.408	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			-	95662949	T	-	95662949	7	5	45	1	0	1	0	1	0	0	0	0	3542	1609	56	0	430	0	CLMN	14	95662949	Frame_Shift_Del	DEL	T	TCGA-KN-8430-01A-11D-2310-10	9575011	95662949	11686591	83	4448											
DEGS2	123099	mdanderson.org	37	chr14	100625902	100625902	+	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	tgtagacccactcgaagtcgCtgcggctcgcgctgttgccc	5	9	12	15	5	0	1	0	0	0	1	3	2	0	1	2	1	2	5	2	1	2	2	rs7157599	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:100625902C>T	ENST00000553834.1	-	1	30	c.23G>A	c.(22-24)aGc>aAc	p.S8N	DEGS2_ENST00000305631.5_Missense_Mutation_p.S8N					delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CTCGAAGTCGCTGCGGCTCGC	0.766													c|||	3842	0.767173	0.8661	0.768	5008	,	,		8798	0.7282		0.6948	False		,,,				2504	0.7474					.											0								T	ASN/SER	2896,464		1254,388,38	8	7	8	http://www.ncbi.nlm.nih.gov/pubmed?term	23	0.5	1	14	dbSNP_116	8	4583,1505		1740,1103,201	yes	missense	DEGS2	NM_206918.2	46	2994,1491,239	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	24.7208,13.8095,20.8404	benign	8/324	100625902	7479,1969	1680	3044	4724	SO:0001583	missense	123099				CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000553834.1:c.23G>A	14.37:g.100625902C>T	ENSP00000450637:p.Ser8Asn			Missense_Mutation	SNP	ENST00000553834.1	37		1662	0.760989010989011	431	0.8760162601626016	274	0.7569060773480663	424	0.7412587412587412	533	0.7031662269129287	.	9.769	1.172237	0.21704	0.861905	0.752792	ENSG00000168350	ENST00000305631;ENST00000553834	T;T	0.40476	1.03;1.03	4.72	0.456	0.16655	Sphingolipid delta4-desaturase, N-terminal (1);	0.817312	0.11149	N	0.594331	T	0.00012	0.0000	N	0.13003	0.285	0.58432	P	9.000000000036756E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.21827	-1.0234	9	0.17369	T	0.5	-1.5775	5.1779	0.15145	0.1384:0.5173:0.2681:0.0762	rs7157599;rs60508435;rs7157599	8	Q6QHC5	DEGS2_HUMAN	N	8	ENSP00000307126:S8N;ENSP00000450637:S8N	ENSP00000307126:S8N	S	-	2	0	DEGS2	99695655	0.085000	0.21516	0.990000	0.47175	0.532000	0.34746	-0.317000	0.08060	-0.209000	0.10156	-0.336000	0.08194	AGC		0.766	DEGS2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414004.1	NM_206918		T	100625902	C	T	100625902	3	4	45	1	0	0	0	0	1	0	0	0	4423	797	28	4	960	4	DEGS2	14	100625902	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	4962953	100625902	6723638	84	4449											
MYO9A	4649	mdanderson.org	37	chr15	72190902	72190902	+	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	gtaccccgtggagactgaagGccttcaggcaccaattctgt	9	9	11	12	1	2	2	1	1	1	1	2	3	2	2	4	3	1	2	4	3	3	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr15:72190902G>T	ENST00000356056.5	-	25	4414	c.3942C>A	c.(3940-3942)ggC>ggA	p.G1314G	MYO9A_ENST00000444904.1_Silent_p.G1295G|MYO9A_ENST00000424560.1_Silent_p.G1314G|MYO9A_ENST00000564571.1_Silent_p.G1314G|MYO9A_ENST00000566885.1_Silent_p.G934G|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1314	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGACTGAAGGCCTTCAGGCA	0.458																																						.											0													116	116	116					15																	72190902		2199	4297	6496	SO:0001819	synonymous_variant	4649			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.3942C>A	15.37:g.72190902G>T			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																				0.458	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		T	72190902	G	T	72190902	2	4	45	1	0	0	0	0	0	0	0	1	10084	1190	42	5		5	MYO9A	15	72190902	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10		72190902	30340490	85	4450											
OR4F4	26682	broad.mit.edu	37	chr15	102462595	102462595	+	Frame_Shift_Del	DEL	A	A	-																															gagctttggacgacttatctAaagggcaatgctggatggtc																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr15:102462595delA	ENST00000326183.3	-	1	703	c.668delT	c.(667-669)ttafs	p.L223fs		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CGACTTATCTAAAGGGCAATG	0.413																																						.											0													303	467	415					15																	102462595		1925	4157	6082	SO:0001589	frameshift_variant	26682				CCDS32343.1	15q26.3	2012-08-09			ENSG00000177693	ENSG00000177693		"GPCR / Class A : Olfactory receptors"	8301	protein-coding gene	gene with protein product							Standard	NM_001004195		Approved	OR4F18	uc002cdf.1	Q96R69		ENST00000326183.3:c.668delT	15.37:g.102462595delA	ENSP00000317482:p.Leu223fs		B2RNI5|Q6IFN9	Nonsense_Mutation	DEL	ENST00000326183.3	37	CCDS32343.1																																																																																				0.413	OR4F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417599.1	NM_001004195		-	102462595	A	-	102462595	7	5	45	1	0	1	0	1	0	0	0	0	11064	372	13	0	253	0	OR4F4	15	102462595	Frame_Shift_Del	DEL	A	TCGA-KN-8430-01A-11D-2310-10	30271693	102462595	68797	86	4451											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059622	2059622	+	Splice_Site	DEL	C	C	-																															acaccgggtggtcgcagcggCcccagcgccgtggcctccag																								rs11366527		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:2059622delC	ENST00000431526.1	-	3	139	c.125delG	c.(124-126)ggc>gc	p.G42fs	ZNF598_ENST00000563630.1_5'UTR|ZNF598_ENST00000562103.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	42							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						GTCGCAGCGGCCCCAGCGCCG	0.736													CCC|CCCC|CCC|insertion	5008	1	1	1	5008	,	,		6036	1		1	False		,,,				2504	1					.											0										2432,4		1216,0,2	1	1	1			2.3	1	16	dbSNP_120	2	5091,7		2545,1,3	no	frameshift	ZNF598	NM_178167.2		3761,1,5	A1A1,A1R,RR		0.1373,0.1642,0.146			2059622	7523,11	285	632	917	SO:0001630	splice_region_variant	90850			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		ENST00000431526.1:c.124-1G>-	16.37:g.2059622delC			Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Frame_Shift_Del	DEL	ENST00000431526.1	37																																																																																					0.736	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167	Frame_Shift_Del	-	2059622	C	-	2059622	8	5	45	1	0	1	0	1	0	0	1	0	18025	739	26	0	2637	0	ZNF598	16	2059622	Splice_Site	DEL	C	TCGA-KN-8430-01A-11D-2310-10		2059622	88295131	87	4452											
PKD1	5310	mdanderson.org	37	chr16	2154573	2154573	+	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	tggtctctgcctgcaggatgAgcatcatggcctccagcttg	6	11	12	12	0	2	1	1	1	1	0	4	2	3	2	3	3	4	3	3	3	0	1	rs201238819		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:2154573A>C	ENST00000262304.4	-	22	8295	c.8087T>G	c.(8086-8088)cTc>cGc	p.L2696R	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.L2696R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2696	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		L -> R (in PKD1). {ECO:0000269|PubMed:11316854}.		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)	p.L2696R(3)		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						CTGCAGGATGAGCATCATGGC	0.677																																						.											3	Substitution - Missense(3)	skin(2)|endometrium(1)	GRCh37	CM014074	PKD1	M							16	12	13					16																	2154573		2107	4184	6291	SO:0001583	missense	5310			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.8087T>G	16.37:g.2154573A>C	ENSP00000262304:p.Leu2696Arg		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	-	0.355	-0.942715	0.02322	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.32988	1.43;1.43	4.37	-1.71	0.08133	Egg jelly receptor, REJ-like (1);Polycystin cation channel (1);	0.646468	0.16090	N	0.230081	T	0.05181	0.0138	N	0.00347	-1.61	0.20873	N	0.99984	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35500	-0.9786	10	0.12430	T	0.62	.	2.3268	0.04224	0.102:0.2587:0.2052:0.4341	.	2696;2696	P98161-3;P98161	.;PKD1_HUMAN	R	2696;2696;2031;975	ENSP00000262304:L2696R;ENSP00000399501:L2696R	ENSP00000262304:L2696R	L	-	2	0	PKD1	2094574	0.916000	0.31088	0.097000	0.21041	0.126000	0.20510	0.857000	0.27831	-0.349000	0.08274	-0.335000	0.08231	CTC		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			C	2154573	A	C	2154573	3	2	45	1	0	0	0	0	1	0	0	0	11963	304	11	5	4924	5	PKD1	16	2154573	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	94951	2154573	88200180	88	4453											
ITGAD	3681	broad.mit.edu	37	chr16	31421837	31421837	+	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	gaatgtggacatgagggactCttacctgggtgagaaacggc	11	8	15	7	1	1	2	0	2	1	1	1	6	1	4	1	4	2	0	1	4	3	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:31421837C>T	ENST00000389202.2	+	11	1254	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	402					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGAGGGACTCTTACCTGGGT	0.597																																						.											0													73	70	71					16																	31421837		2197	4300	6497	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1205C>T	16.37:g.31421837C>T	ENSP00000373854:p.Ser402Phe		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	c	13.46	2.243558	0.39697	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.23754	1.89	4.43	4.43	0.53597	.	.	.	.	.	T	0.56426	0.1984	M	0.89658	3.05	0.32435	N	0.547457	D;D	0.62365	0.991;0.991	D;D	0.65010	0.931;0.931	T	0.72453	-0.4289	9	0.87932	D	0	.	14.5149	0.67811	0.0:1.0:0.0:0.0	.	418;402	Q59H14;Q13349	.;ITAD_HUMAN	F	418;402	ENSP00000373854:S402F	ENSP00000373854:S402F	S	+	2	0	ITGAD	31329338	0.967000	0.33354	0.825000	0.32803	0.100000	0.18952	3.338000	0.52128	2.007000	0.58848	0.197000	0.17608	TCT		0.597	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		T	31421837	C	T	31421837	3	4	45	1	0	0	0	0	1	0	0	0	7884	913	32	4	1247	4	ITGAD	16	31421837	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	29267264	31421837	58932916	89	4454											
ZNF319	57567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	58031971	58031971	+	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	ctctcctgctgcctgcagggGtgcgtgttgtgggggctgca	2	11	17	11	1	1	0	0	0	1	0	2	0	1	0	2	4	5	5	2	4	0	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:58031971G>C	ENST00000299237.2	-	2	821	c.199C>G	c.(199-201)Ccc>Gcc	p.P67A	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	67	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)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCTGCAGGGGTGCGTGTTGT	0.692																																						.											0													36	38	37					16																	58031971		2198	4299	6497	SO:0001583	missense	57567			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.199C>G	16.37:g.58031971G>C	ENSP00000299237:p.Pro67Ala		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	5.379	0.255089	0.10185	.	.	ENSG00000166188	ENST00000299237	T	0.03035	4.07	5.34	4.38	0.52667	.	0.085303	0.47455	D	0.000239	T	0.03220	0.0094	N	0.20685	0.6	0.36971	D	0.893841	B	0.18461	0.028	B	0.12156	0.007	T	0.46289	-0.9202	10	0.17832	T	0.49	-23.7999	15.0798	0.72106	0.0:0.1425:0.8575:0.0	.	67	Q9P2F9	ZN319_HUMAN	A	67	ENSP00000299237:P67A	ENSP00000299237:P67A	P	-	1	0	ZNF319	56589472	0.999000	0.42202	0.766000	0.31476	0.008000	0.06430	3.229000	0.51278	1.237000	0.43756	-0.302000	0.09304	CCC		0.692	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			C	58031971	G	C	58031971	3	2	45	1	0	0	0	0	1	0	0	0	17834	1261	44	5	1553	5	ZNF319	16	58031971	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	26610134	58031971	32322782	90	4455											
CDH16	1014	broad.mit.edu	37	chr16	66942345	66942345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggttgatccgggtcctTcttccttgacatggtccagt	4	15	11	11	1	1	2	0	2	1	0	5	2	5	2	4	3	1	2	4	3	0	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:66942345T>C	ENST00000299752.4	-	18	2633	c.2440A>G	c.(2440-2442)Aag>Gag	p.K814E	CDH16_ENST00000568632.1_Missense_Mutation_p.K717E|CDH16_ENST00000565796.1_Missense_Mutation_p.K775E|CDH16_ENST00000570262.1_Missense_Mutation_p.K734E|CDH16_ENST00000394055.3_Missense_Mutation_p.K792E	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	814					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)		TCCGGGTCCTTCTTCCTTGAC	0.577																																						.											0													111	106	108					16																	66942345		2200	4300	6500	SO:0001583	missense	1014			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.2440A>G	16.37:g.66942345T>C	ENSP00000299752:p.Lys814Glu		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589247	0.46110	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.59906	0.23;0.25	5.52	4.43	0.53597	.	0.165860	0.37219	N	0.002181	T	0.59004	0.2162	N	0.22421	0.69	0.39445	D	0.967316	D;D;D	0.69078	0.997;0.997;0.988	P;D;P	0.75020	0.879;0.985;0.76	T	0.60999	-0.7151	10	0.51188	T	0.08	-26.4532	7.9819	0.30188	0.0:0.0924:0.0:0.9076	.	792;814;814	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	E	792;814;778	ENSP00000377619:K792E;ENSP00000299752:K814E	ENSP00000299752:K814E	K	-	1	0	CDH16	65499846	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	3.426000	0.52778	0.936000	0.37367	0.533000	0.62120	AAG		0.577	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		C	66942345	T	C	66942345	3	2	45	1	0	0	0	0	1	0	0	0	3101	1792	62	4	53	4	CDH16	16	66942345	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	8910374	66942345	23412408	91	4456											
HPR	3250	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	72110892	72110892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggatcctaagctttgAtaagagctgtgctgtggctg	7	12	15	7	0	0	2	0	1	0	1	1	3	1	3	1	3	3	5	1	3	2	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:72110892A>G	ENST00000540303.2	+	5	991	c.959A>G	c.(958-960)gAt>gGt	p.D320G	HPR_ENST00000228226.8_Missense_Mutation_p.D357G|HPR_ENST00000561690.1_Nonstop_Mutation_p.*118W|HPR_ENST00000356967.5_Missense_Mutation_p.D320G	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	320	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)			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)				CTAAGCTTTGATAAGAGCTGT	0.542																																						.											0													260	173	202					16																	72110892		2087	4219	6306	SO:0001583	missense	3250			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.959A>G	16.37:g.72110892A>G	ENSP00000441828:p.Asp320Gly		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	A	9.648	1.140896	0.21205	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.88975	-2.45;-2.45;-2.45	2.64	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	N	0.01140	-0.99	0.40259	D	0.97815	D	0.89917	1.0	D	0.97110	1.0	T	0.75671	-0.3237	10	0.02654	T	1	.	7.1984	0.25866	0.7742:0.2258:0.0:0.0	.	320	P00739	HPTR_HUMAN	G	320;320;357	ENSP00000349451:D320G;ENSP00000441828:D320G;ENSP00000228226:D357G	ENSP00000228226:D357G	D	+	2	0	HP	70668393	0.995000	0.38212	1.000000	0.80357	0.524000	0.34500	2.861000	0.48380	1.198000	0.43158	0.338000	0.21704	GAT		0.542	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		G	72110892	A	G	72110892	3	3	45	1	0	0	0	0	1	0	0	0	7337	333	12	4	977	4	HPR	16	72110892	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	5168547	72110892	18243861	92	4457											
WDR59	79726	broad.mit.edu	37	chr16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-																															tggtggcaaggcagttagcaTtttttttattccatttgacc																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:74976691delT	ENST00000262144.6	-	7	609	c.479delA	c.(478-480)aatfs	p.N160fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGTTAGCATTTTTTTTATT	0.502																																						.											0													84	76	79					16																	74976691		2198	4300	6498	SO:0001589	frameshift_variant	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.479delA	16.37:g.74976691delT	ENSP00000262144:p.Asn160fs		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Frame_Shift_Del	DEL	ENST00000262144.6	37	CCDS32488.1																																																																																				0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		-	74976691	T	-	74976691	7	5	45	1	0	1	0	1	0	0	0	0	17305	1493	52	0	2525	0	WDR59	16	74976691	Frame_Shift_Del	DEL	T	TCGA-KN-8430-01A-11D-2310-10	2865799	74976691	15378062	93	4458											
AP2B1	163	ucsc.edu	37	chr17	34044214	34044214	+	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	ttttgaatctgtatttctagAcactgtttccagcaagttgc	9	17	7	8	0	2	2	0	1	2	1	3	2	3	2	1	0	2	4	1	0	4	7			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr17:34044214A>G	ENST00000262325.7	+	20	3138	c.2585A>G	c.(2584-2586)gAc>gGc	p.D862G	AP2B1_ENST00000589344.1_Splice_Site_p.D876G|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Splice_Site_p.D876G|AP2B1_ENST00000312678.8_Splice_Site_p.D876G|AP2B1_ENST00000592545.1_Splice_Site_p.D838G|AP2B1_ENST00000538556.1_Splice_Site_p.D805G	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	862	Interaction with ARRB1.				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)		GTATTTCTAGACACTGTTTCC	0.398																																						.											0													107	100	103					17																	34044214		2203	4300	6503	SO:0001630	splice_region_variant	163			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.2585-1A>G	17.37:g.34044214A>G			A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755295	0.69648	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.41758	1.26;1.26;0.99;1.26	5.86	5.86	0.93980	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	M	0.83483	2.645	0.80722	D	1	D;P;B;B	0.59357	0.985;0.486;0.001;0.001	D;P;B;B	0.74023	0.982;0.457;0.029;0.01	T	0.70502	-0.4854	9	.	.	.	.	15.7408	0.77894	1.0:0.0:0.0:0.0	.	613;838;862;876	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	G	862;876;805;876;613	ENSP00000262325:D862G;ENSP00000314414:D876G;ENSP00000440563:D805G;ENSP00000437413:D876G	.	D	+	2	0	AP2B1	31068327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	GAC		0.398	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		Missense_Mutation	G	34044214	A	G	34044214	5	3	45	1	0	0	0	0	0	0	1	0	741	289	10	2	2705	2	AP2B1	17	34044214	Splice_Site	SNP	A	TCGA-KN-8430-01A-11D-2310-10		34044214	47150996	94	4459											
HEXDC	284004	broad.mit.edu	37	chr17	80377733	80377733	+	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	atttagaccttaaaggagctCcaccaaaggtctcgtacctc	12	10	7	12	1	1	1	0	0	1	1	4	2	2	2	4	2	2	2	4	2	5	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr17:80377733C>A	ENST00000327949.9	+	1	69	c.58C>A	c.(58-60)Cca>Aca	p.P20T	OGFOD3_ENST00000313056.5_5'Flank|HEXDC_ENST00000337014.6_Missense_Mutation_p.P20T|Y_RNA_ENST00000364369.1_RNA|OGFOD3_ENST00000329197.5_5'Flank|HEXDC_ENST00000577944.1_Missense_Mutation_p.P20T			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	20					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TAAAGGAGCTCCACCAAAGGT	0.428																																						.											0													89	90	90					17																	80377733		1877	4092	5969	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.58C>A	17.37:g.80377733C>A	ENSP00000332634:p.Pro20Thr		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37		.	.	.	.	.	.	.	.	.	.	C	18.36	3.607611	0.66558	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.90133	-2.62;-2.62	4.97	4.97	0.65823	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.144606	0.46442	D	0.000281	D	0.94997	0.8381	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.76494	0.996;0.999	D;D	0.72982	0.935;0.979	D	0.93758	0.7064	10	0.30078	T	0.28	-22.7356	15.7781	0.78240	0.0:1.0:0.0:0.0	.	20;20	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	T	20	ENSP00000337854:P20T;ENSP00000332634:P20T	ENSP00000332634:P20T	P	+	1	0	HEXDC	77971022	0.946000	0.32159	0.252000	0.24328	0.687000	0.40016	3.236000	0.51336	2.568000	0.86640	0.655000	0.94253	CCA		0.428	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		A	80377733	C	A	80377733	3	1	45	1	0	0	0	0	1	0	0	0	7075	855	30	5	60	5	HEXDC	17	80377733	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	46333519	80377733	817477	95	4460											
SIGLEC15	284266	ucsc.edu	37	chr18	43418922	43418922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaacagcctgggccgcTccgaggccagcgtctacctg	6	5	12	18	4	1	0	0	0	1	0	2	1	2	0	7	2	4	1	7	2	2	1			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr18:43418922T>C	ENST00000389474.3	+	4	953	c.736T>C	c.(736-738)Tcc>Ccc	p.S246P	SIGLEC15_ENST00000587418.1_Silent_p.A15A|SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Missense_Mutation_p.S92P	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	246	Ig-like C2-type.				cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CCTGGGCCGCTCCGAGGCCAG	0.706																																						.											0													10	12	11					18																	43418922		2096	4142	6238	SO:0001583	missense	284266			AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27596	protein-coding gene	gene with protein product			"CD33 antigen-like 3", "CD33 molecule-like 3"	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.736T>C	18.37:g.43418922T>C	ENSP00000374125:p.Ser246Pro		A8K2Y5|B4DVQ9	Missense_Mutation	SNP	ENST00000389474.3	37	CCDS32819.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804493	0.50315	.	.	ENSG00000197046	ENST00000389474;ENST00000546268	T;T	0.73258	2.7;-0.73	4.63	0.601	0.17529	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.227470	0.36444	N	0.002590	T	0.61211	0.2329	L	0.57536	1.79	0.23893	N	0.996547	B	0.28400	0.21	B	0.30251	0.113	T	0.54084	-0.8346	10	0.52906	T	0.07	-9.3574	5.9974	0.19501	0.1501:0.0:0.575:0.2749	.	246	Q6ZMC9	SIG15_HUMAN	P	246;92	ENSP00000374125:S246P;ENSP00000443509:S92P	ENSP00000374125:S246P	S	+	1	0	SIGLEC15	41672920	0.650000	0.27331	0.945000	0.38365	0.961000	0.63080	2.248000	0.43160	-0.075000	0.12798	-0.648000	0.03929	TCC		0.706	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		C	43418922	T	C	43418922	3	2	45	1	0	0	0	0	1	0	0	0	14310	1551	54	2	750	2	SIGLEC15	18	43418922	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10		43418922	34658326	96	4461											
PPAP2C	8612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	288028	288028	+	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	ctcctgccttacaaggatgaCggtggccgtgatggtgaccc	7	9	13	12	2	0	3	0	3	0	0	1	4	1	4	4	4	2	0	4	4	2	1	rs148329482	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:288028C>T	ENST00000269812.3	-	2	245	c.196G>A	c.(196-198)Gtc>Atc	p.V66I	PPAP2C_ENST00000434325.2_Missense_Mutation_p.V10I|PPAP2C_ENST00000327790.3_Missense_Mutation_p.V87I	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	66					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGGATGACGGTGGCCGTG	0.642													.|||	6	0.00119808	0	0	5008	,	,		12700	0		0.006	False		,,,				2504	0					.											0								C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	824.9+/-416.5	0,1,2202	113	99	104		196,28,259	-3.8	0	19	dbSNP_134	104	0,8600		0,0,4300	yes	missense,missense,missense	PPAP2C	NM_003712.2,NM_177526.1,NM_177543.1	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	66/289,10/233,87/310	288028	1,13005	2203	4300	6503	SO:0001583	missense	8612			AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.196G>A	19.37:g.288028C>T	ENSP00000269812:p.Val66Ile		A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	CCDS12023.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	T	0.525	-0.860463	0.02610	2.27E-4	0.0	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	T;T;T	0.74632	-0.86;-0.83;1.61	4.44	-3.8	0.04307	.	0.415488	0.22661	N	0.057186	T	0.38214	0.1032	N	0.17631	0.505	0.09310	N	1	B;B	0.17038	0.0;0.02	B;B	0.13407	0.001;0.009	T	0.44236	-0.9341	10	0.02654	T	1	-8.3324	7.8963	0.29708	0.0:0.6408:0.1073:0.2519	.	66;87	O43688;O43688-2	LPP2_HUMAN;.	I	66;87;10	ENSP00000269812:V66I;ENSP00000329697:V87I;ENSP00000388565:V10I	ENSP00000269812:V66I	V	-	1	0	PPAP2C	239028	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.062000	0.03468	-0.363000	0.08101	-1.796000	0.00623	GTC		0.642	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			T	288028	C	T	288028	3	4	45	1	0	0	0	0	1	0	0	0	12292	536	19	1	690	1	PPAP2C	19	288028	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10		288028	58840955	97	4462											
DPP9	91039	bcgsc.ca	37	chr19	4719881	4719881	+	5'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	1	0	0	0	0	0	0	accttctccaacttccggtgTtctccttgtccaggcgcagt	5	13	8	15	2	2	0	0	0	2	0	6	0	4	0	5	2	1	2	5	2	1	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:4719881T>C	ENST00000598800.1	-	0	258				DPP9_ENST00000597849.1_Missense_Mutation_p.N13S|DPP9_ENST00000262960.9_Missense_Mutation_p.N13S			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							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)		ACTTCCGGTGTTCTCCTTGTC	0.577																																						.											0													106	104	105					19																	4719881		692	1591	2283	SO:0001623	5_prime_UTR_variant	91039			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.-248A>G	19.37:g.4719881T>C			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37		.	.	.	.	.	.	.	.	.	.	T	9.005	0.980970	0.18812	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28895	1.59	3.29	0.804	0.18697	.	0.204155	0.28712	N	0.014387	T	0.11707	0.0285	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.16630	-1.0396	10	0.26408	T	0.33	-11.1953	3.6575	0.08226	0.1805:0.0:0.3564:0.463	.	13	Q1ZZB8	.	S	92;92;13	ENSP00000262960:N13S	ENSP00000262960:N13S	N	-	2	0	DPP9	4670881	0.973000	0.33851	0.010000	0.14722	0.913000	0.54294	1.896000	0.39789	0.329000	0.23460	0.459000	0.35465	AAC		0.577	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			C	4719881	T	C	4719881	1	2	45	0	1	0	0	0	0	0	0	0	4733	1725	60	2		2	DPP9	19	4719881	5'UTR	SNP	T	TCGA-KN-8430-01A-11D-2310-10	4431853	4719881	54409102	98	4463											
MUC16	94025	mdanderson.org	37	chr19	9006370	9006370	+	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	aaggtcagtctgcagccagaAtacagagggccaacactggt	13	6	12	10	0	2	2	1	0	1	2	2	2	2	2	2	3	4	1	2	3	4	1	rs79341062	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:9006370A>G	ENST00000397910.4	-	45	39851	c.39648T>C	c.(39646-39648)taT>taC	p.Y13216Y	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13218	SEA 8. {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						TGCAGCCAGAATACAGAGGGC	0.522																																						.											0													104	85	91					19																	9006370		2007	4178	6185	SO:0001819	synonymous_variant	94025			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.39648T>C	19.37:g.9006370A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.163	-0.391777	0.04932	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.73	-2.09	0.07232	.	.	.	.	.	T	0.36799	0.0980	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44544	-0.9321	3	.	.	.	-18.4462	7.5909	0.28021	0.6138:0.0:0.3862:0.0	.	.	.	.	T	56	.	.	I	-	2	0	MUC16	8867370	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.632000	0.00870	-0.715000	0.04968	-2.373000	0.00235	ATT		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9006370	A	G	9006370	2	3	45	1	0	0	0	0	0	0	0	1	9973	108	4	4		4	MUC16	19	9006370	Silent	SNP	A	TCGA-KN-8430-01A-11D-2310-10	4286489	9006370	50122613	99	4464											
MUC16	94025	broad.mit.edu	37	chr19	9049341	9049341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactaatgaggctatcgTctttggttcaccaggagaaa	11	11	12	7	1	2	3	1	2	1	1	3	4	2	3	1	4	0	2	1	4	3	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:9049341T>C	ENST00000397910.4	-	5	32493	c.32290A>G	c.(32290-32292)Acg>Gcg	p.T10764A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10766	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						GAGGCTATCGTCTTTGGTTCA	0.478																																						.											0													139	128	131					19																	9049341		1936	4138	6074	SO:0001583	missense	94025			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.32290A>G	19.37:g.9049341T>C	ENSP00000381008:p.Thr10764Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.017	0.371456	0.11409	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.66	1.62	0.23740	.	.	.	.	.	T	0.02610	0.0079	L	0.34521	1.04	.	.	.	B	0.30068	0.267	B	0.37304	0.246	T	0.29852	-0.9998	8	0.87932	D	0	.	4.5679	0.12196	0.0:0.157:0.0:0.843	.	10764	B5ME49	.	A	10764	ENSP00000381008:T10764A	ENSP00000381008:T10764A	T	-	1	0	MUC16	8910341	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.303000	0.19210	0.440000	0.26502	0.388000	0.25769	ACG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9049341	T	C	9049341	3	2	45	1	0	0	0	0	1	0	0	0	9973	1667	58	2	11553	2	MUC16	19	9049341	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10	42971	9049341	50079642	100	4465											
ANKLE1	126549	mdanderson.org	37	chr19	17393015	17393015	+	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	ccaaggcggggaccccaacgCtcggtaagatagagcctggg	10	4	15	12	3	0	2	0	0	0	2	1	3	0	3	4	5	2	2	4	5	4	2	rs1864116	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:17393015C>T	ENST00000394458.3	+	2	488	c.212C>T	c.(211-213)gCt>gTt	p.A71V	ANKLE1_ENST00000594072.1_Missense_Mutation_p.A60V|ANKLE1_ENST00000433424.2_Missense_Mutation_p.A125V|ANKLE1_ENST00000598347.1_Missense_Mutation_p.A71V|ANKLE1_ENST00000404085.1_Missense_Mutation_p.A93V|CTD-2278I10.6_ENST00000596542.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	71			A -> V (in dbSNP:rs1864116). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}.							large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GACCCCAACGCTCGGTAAGAT	0.741													C|||	3182	0.635383	0.798	0.5533	5008	,	,		8910	0.3125		0.834	False		,,,				2504	0.6022					.											0								C	VAL/ALA	2161,339		925,311,14	2	2	2		212	0.8	0.5	19	dbSNP_92	2	4508,662		1957,594,34	yes	missense	ANKLE1	NM_152363.4	64	2882,905,48	TT,TC,CC		12.8046,13.56,13.0508	probably-damaging	71/616	17393015	6669,1001	1250	2585	3835	SO:0001583	missense	126549			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.212C>T	19.37:g.17393015C>T	ENSP00000377971:p.Ala71Val		A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	1399	0.6405677655677655	380	0.7723577235772358	218	0.6022099447513812	164	0.2867132867132867	637	0.8403693931398417	C	16.19	3.054076	0.55218	0.8644	0.871954	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.67865	-0.29;-0.29;-0.29	4.15	0.796	0.18648	Ankyrin repeat-containing domain (4);	0.432303	0.19437	N	0.114285	T	0.00012	0.0000	N	0.20807	0.61	0.80722	P	0.0	B;B;B	0.15930	0.005;0.015;0.002	B;B;B	0.17722	0.016;0.015;0.019	T	0.27606	-1.0069	9	0.18710	T	0.47	-20.551	6.1339	0.20221	0.0:0.667:0.0:0.333	rs1864116;rs17238816;rs59648740;rs1864116	71;57;71	E7ETZ9;Q8NAG6-1;Q8NAG6	.;.;ANKL1_HUMAN	V	71;125;93;60;71	ENSP00000384753:A71V;ENSP00000394460:A125V;ENSP00000384008:A93V	ENSP00000377971:A60V	A	+	2	0	ANKLE1	17254015	0.002000	0.14202	0.527000	0.27925	0.842000	0.47809	0.606000	0.24194	0.078000	0.16900	0.555000	0.69702	GCT		0.741	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		T	17393015	C	T	17393015	3	4	45	1	0	0	0	0	1	0	0	0	632	797	28	4	218	4	ANKLE1	19	17393015	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	8343674	17393015	41735968	101	4466											
INSL3	3640	mdanderson.org	37	chr19	17932190	17932190	+	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	gggcccccgcacacgcgcacTagcgcgcgtacgaagtggtg	7	4	15	15	7	0	0	0	0	0	0	0	1	0	0	2	2	2	3	2	2	3	2	rs1047233	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:17932190T>C	ENST00000317306.7	-	1	142	c.126A>G	c.(124-126)ctA>ctG	p.L42L	INSL3_ENST00000379695.5_Silent_p.L42L	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	42					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						ACACGCGCACTAGCGCGCGTA	0.721													C|||	1288	0.257188	0.3941	0.3127	5008	,	,		12303	0.005		0.4076	False		,,,				2504	0.138					.											0								C		1224,2548		247,730,909	4	7	6		126	-1.9	1	19	dbSNP_86	6	2298,4938		486,1326,1806	no	coding-synonymous	INSL3	NM_005543.2		733,2056,2715	CC,CT,TT		31.7579,32.4496,31.9949		42/132	17932190	3522,7486	1886	3618	5504	SO:0001819	synonymous_variant	3640				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.126A>G	19.37:g.17932190T>C			B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Silent	SNP	ENST00000317306.7	37	CCDS12365.1																																																																																				0.721	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		C	17932190	T	C	17932190	2	2	45	1	0	0	0	0	0	0	0	1	7767	1509	53	2		2	INSL3	19	17932190	Silent	SNP	T	TCGA-KN-8430-01A-11D-2310-10	539175	17932190	41196793	102	4467											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	31768447	31768447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgttgctcatcttgAaaagcatgctcatggggtcc	8	11	11	11	0	3	1	2	1	1	0	4	1	4	1	2	3	3	5	2	3	2	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:31768447A>G	ENST00000240587.4	-	2	2579	c.2252T>C	c.(2251-2253)tTc>tCc	p.F751S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	751					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCTCATCTTGAAAAGCATGCT	0.602																																						.											0													60	62	61					19																	31768447		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2252T>C	19.37:g.31768447A>G	ENSP00000240587:p.Phe751Ser		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877495	0.51801	.	.	ENSG00000121297	ENST00000240587	T	0.39406	1.08	5.37	5.37	0.77165	.	0.051638	0.85682	D	0.000000	T	0.49643	0.1569	N	0.22421	0.69	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.46582	-0.9181	10	0.33141	T	0.24	-30.3567	15.3715	0.74568	1.0:0.0:0.0:0.0	.	751	Q63HK5	TSH3_HUMAN	S	751	ENSP00000240587:F751S	ENSP00000240587:F751S	F	-	2	0	TSHZ3	36460287	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.930000	0.92872	2.024000	0.59613	0.533000	0.62120	TTC		0.602	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		G	31768447	A	G	31768447	3	3	45	1	0	0	0	0	1	0	0	0	16622	246	9	4	997	4	TSHZ3	19	31768447	Missense_Mutation	SNP	A	TCGA-KN-8430-01A-11D-2310-10	13836257	31768447	27360536	103	4468											
ZFP30	22835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	38127148	38127148	+	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	accttccactgagataagttCatttcataaatatcctttcc	12	15	3	11	0	2	1	2	1	0	1	5	2	5	1	4	0	0	1	4	0	4	7			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:38127148C>A	ENST00000351218.2	-	6	851	c.294G>T	c.(292-294)atG>atT	p.M98I	ZFP30_ENST00000392144.1_Missense_Mutation_p.M98I|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.M98I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	98					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)			GAGATAAGTTCATTTCATAAA	0.343																																						.											0													45	44	44					19																	38127148		2203	4299	6502	SO:0001583	missense	22835			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.294G>T	19.37:g.38127148C>A	ENSP00000343581:p.Met98Ile		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	1.877	-0.458894	0.04508	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.04758	3.56;3.56;3.56	3.82	-2.98	0.05513	.	0.679876	0.12433	N	0.469377	T	0.01320	0.0043	N	0.01493	-0.835	0.22412	N	0.999124	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45948	-0.9226	10	0.19590	T	0.45	.	2.0782	0.03629	0.2677:0.4359:0.1246:0.1718	.	98;98	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	I	98;98;98;97	ENSP00000343581:M98I;ENSP00000422930:M98I;ENSP00000375988:M98I	ENSP00000343581:M98I	M	-	3	0	ZFP30	42818988	0.145000	0.22656	0.979000	0.43373	0.964000	0.63967	-0.420000	0.07062	-0.269000	0.09298	0.561000	0.74099	ATG		0.343	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		A	38127148	C	A	38127148	3	1	45	1	0	0	0	0	1	0	0	0	17641	826	29	5	1269	5	ZFP30	19	38127148	Missense_Mutation	SNP	C	TCGA-KN-8430-01A-11D-2310-10	6358701	38127148	21001835	104	4469											
NR1H2	7376	ucsc.edu	37	chr19	50881825	50881825	+	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	aagaagaagattcggaaacaGcagcaggagtcacagtcaca	18	4	11	8	1	2	3	2	0	0	3	3	5	2	5	0	2	3	2	0	2	4	1	rs55817866	byFrequency	TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000411902.2_Silent_p.Q76Q|NR1H2_ENST00000593926.1_Silent_p.Q173Q|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000599105.1_Silent_p.Q173Q|NR1H2_ENST00000598168.1_Silent_p.Q173Q	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	173					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)		TTCGGAAACAGCAGCAGGAGT	0.637																																						.											0													38	47	44					19																	50881825		2140	4249	6389	SO:0001819	synonymous_variant	7376			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.519G>A	19.37:g.50881825G>A			A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																				0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			A	50881825	G	A	50881825	2	1	45	1	0	0	0	0	0	0	0	1	10617	962	34	4		4	NR1H2	19	50881825	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	12754677	50881825	8247158	105	4470											
LILRA1	11024	mdanderson.org	37	chr19	55106239	55106239	+	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	gagacccaggagtaccgtctGtatagagaaaagaaaacagc	17	5	11	8	1	1	3	0	0	1	3	1	6	1	4	2	1	3	2	2	1	7	3			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:55106239G>A	ENST00000251372.3	+	4	362	c.180G>A	c.(178-180)ctG>ctA	p.L60L	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Silent_p.L60L|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	60	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGTACCGTCTGTATAGAGAAA	0.572																																						.											3	Substitution - coding silent(3)	kidney(3)											124	119	121					19																	55106239		2203	4300	6503	SO:0001819	synonymous_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.180G>A	19.37:g.55106239G>A			O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																				0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		A	55106239	G	A	55106239	2	1	45	1	0	0	0	0	0	0	0	1	8784	1364	48	4		4	LILRA1	19	55106239	Silent	SNP	G	TCGA-KN-8430-01A-11D-2310-10	4224414	55106239	4022744	106	4471											
COL20A1	57642	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr20	61926524	61926524	+	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	gtggctgggcgccaccctggGaagagagcaagttcaaggta	10	6	16	9	1	1	1	1	0	0	1	1	3	1	2	2	4	1	4	2	4	4	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr20:61926524G>T	ENST00000358894.6	+	2	165	c.65G>T	c.(64-66)gGa>gTa	p.G22V	COL20A1_ENST00000422202.1_Missense_Mutation_p.G22V|COL20A1_ENST00000326996.6_Missense_Mutation_p.G22V|COL20A1_ENST00000435874.1_Missense_Mutation_p.G22V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	22					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)					GCCACCCTGGGAAGAGAGCAA	0.697																																						.											0													13	17	16					20																	61926524		1985	4080	6065	SO:0001583	missense	57642			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.65G>T	20.37:g.61926524G>T	ENSP00000351767:p.Gly22Val		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	6.546	0.468969	0.12461	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.86164	-2.08;-2.05;-1.98;-1.98	2.84	1.79	0.24919	.	0.173457	0.37261	U	0.002171	T	0.74824	0.3767	L	0.28274	0.84	0.09310	N	0.999998	B	0.30068	0.267	B	0.22386	0.039	T	0.63233	-0.6683	10	0.40728	T	0.16	.	7.8695	0.29556	0.0:0.3747:0.6253:0.0	.	22	Q9P218	COKA1_HUMAN	V	22	ENSP00000351767:G22V;ENSP00000323077:G22V;ENSP00000408690:G22V;ENSP00000414753:G22V	ENSP00000323077:G22V	G	+	2	0	COL20A1	61396969	0.281000	0.24258	0.008000	0.14137	0.006000	0.05464	0.941000	0.29005	0.404000	0.25506	0.313000	0.20887	GGA		0.697	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		T	61926524	G	T	61926524	3	4	45	1	0	0	0	0	1	0	0	0	3679	1174	41	5	67	5	COL20A1	20	61926524	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		61926524	1098996	107	4472											
DSCAM	1826	bcgsc.ca	37	chr21	41719789	41719789	+	Missense_Mutation	SNP	T	T	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	ggagagttcctggtcctcagTtcctgtcacgctgcaggaca	7	10	12	12	1	2	1	2	0	0	1	5	3	5	2	3	3	1	4	3	3	0	2			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr21:41719789T>C	ENST00000400454.1	-	6	1495	c.1018A>G	c.(1018-1020)Act>Gct	p.T340A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	340	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)				TGGTCCTCAGTTCCTGTCACG	0.493																																					Melanoma(134;970 1778 1785 21664 32388)	.											0													153	139	144					21																	41719789		1948	4154	6102	SO:0001583	missense	1826			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.1018A>G	21.37:g.41719789T>C	ENSP00000383303:p.Thr340Ala		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223647	0.39300	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66995	-0.24;-0.24	5.58	1.76	0.24704	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.364917	0.31859	N	0.006951	T	0.53562	0.1804	L	0.46157	1.445	0.21822	N	0.999522	B	0.23128	0.08	B	0.28465	0.09	T	0.37596	-0.9699	10	0.20519	T	0.43	.	6.4105	0.21688	0.26:0.0672:0.0:0.6728	.	340	O60469	DSCAM_HUMAN	A	340;92	ENSP00000383303:T340A;ENSP00000385342:T92A	ENSP00000383303:T340A	T	-	1	0	DSCAM	40641659	1.000000	0.71417	0.800000	0.32199	0.977000	0.68977	2.985000	0.49362	0.045000	0.15804	-0.438000	0.05819	ACT		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		C	41719789	T	C	41719789	3	2	45	1	0	0	0	0	1	0	0	0	4768	1725	60	2	5132	2	DSCAM	21	41719789	Missense_Mutation	SNP	T	TCGA-KN-8430-01A-11D-2310-10		41719789	6410106	108	4473											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000294	46000294	+	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	caggggctgggctcacaggcCgcctggcagcaggggctgga	6	4	19	12	1	1	0	1	0	0	0	1	1	1	1	2	8	1	5	2	8	0	0	rs201287112		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr21:46000294C>T	ENST00000400372.1	-	1	187	c.162G>A	c.(160-162)gcG>gcA	p.A54A	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	54	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						GCTCACAGGCCGCCTGGCAGC	0.716													.|||	1	0.000199681	8e-04	0	5008	,	,		17574	0		0	False		,,,				2504	0					.											0													30	36	34					21																	46000294		2190	4281	6471	SO:0001819	synonymous_variant	386680			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.162G>A	21.37:g.46000294C>T			Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	CCDS42958.1																																																																																				0.716	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			T	46000294	C	T	46000294	2	4	45	1	0	0	0	0	0	0	0	1	8512	639	23	1		1	KRTAP10-5	21	46000294	Silent	SNP	C	TCGA-KN-8430-01A-11D-2310-10	4280505	46000294	2129601	109	4474											
CLTCL1	8218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	19175230	19175230	+	Missense_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	tgtcataggcatcgatagatGcccttaagccctaggaagac	12	9	10	10	1	1	2	1	0	0	2	2	4	1	3	2	2	2	1	2	2	5	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr22:19175230G>A	ENST00000263200.10	-	29	4517	c.4445C>T	c.(4444-4446)gCa>gTa	p.A1482V	CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A1482V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1482	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCGATAGATGCCCTTAAGCC	0.522			T	?	ALCL																																	.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													55	56	56					22																	19175230		2041	4191	6232	SO:0001583	missense	8218				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.4445C>T	22.37:g.19175230G>A	ENSP00000445677:p.Ala1482Val		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136704	0.37728	.	.	ENSG00000070371	ENST00000263200;ENST00000427926	T;T	0.22539	1.95;1.95	3.97	3.97	0.46021	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.213152	0.39146	N	0.001446	T	0.21841	0.0526	L	0.45581	1.43	0.54753	D	0.999989	B	0.14805	0.011	B	0.18871	0.023	T	0.05257	-1.0896	10	0.41790	T	0.15	-1.1575	16.2212	0.82258	0.0:0.0:1.0:0.0	.	1482	P53675	CLH2_HUMAN	V	1482	ENSP00000445677:A1482V;ENSP00000441158:A1482V	ENSP00000445677:A1482V	A	-	2	0	CLTCL1	17555230	1.000000	0.71417	0.626000	0.29213	0.216000	0.24613	4.814000	0.62627	2.043000	0.60533	0.650000	0.86243	GCA		0.522	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19175230	G	A	19175230	3	1	45	1	0	0	0	0	1	0	0	0	3567	1319	46	4	493	4	CLTCL1	22	19175230	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10		19175230	32129336	110	4475											
KREMEN1	83999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	29517360	29517360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttagtgcctggaaaccttgGctgctacaaggatcatggaa	11	11	11	8	0	1	0	1	0	0	0	1	3	1	3	2	4	4	2	2	4	5	4			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr22:29517360G>T	ENST00000407188.1	+	4	362	c.362G>T	c.(361-363)gGc>gTc	p.G121V	KREMEN1_ENST00000400335.4_Missense_Mutation_p.G123V|KREMEN1_ENST00000400338.2_Missense_Mutation_p.G123V|KREMEN1_ENST00000327813.5_Missense_Mutation_p.G123V			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	121	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						GGAAACCTTGGCTGCTACAAG	0.428																																						.											0													93	94	94					22																	29517360		2109	4236	6345	SO:0001583	missense	83999			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.362G>T	22.37:g.29517360G>T	ENSP00000385431:p.Gly121Val		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350252	0.82132	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.14	5.14	0.70334	Carbohydrate-binding WSC (2);Kringle-like fold (1);	0.000000	0.64402	D	0.000006	D	0.88247	0.6385	H	0.97516	4.02	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	0.91893	0.5525	10	0.62326	D	0.03	.	16.4852	0.84182	0.0:0.0:1.0:0.0	.	121;123;123	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	V	123;123;123;121	ENSP00000383189:G123V;ENSP00000383192:G123V;ENSP00000331242:G123V;ENSP00000385431:G121V	ENSP00000331242:G123V	G	+	2	0	KREMEN1	27847360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.201000	0.95017	2.566000	0.86566	0.563000	0.77884	GGC		0.428	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			T	29517360	G	T	29517360	3	4	45	1	0	0	0	0	1	0	0	0	8442	1203	42	5	382	5	KREMEN1	22	29517360	Missense_Mutation	SNP	G	TCGA-KN-8430-01A-11D-2310-10	10342130	29517360	21787206	111	4476											
USP9Y	8287	broad.mit.edu	37	chrY	14888667	14888667	+	Frame_Shift_Del	DEL	A	A	-																															tgtgtgtttttgatggtgacAaaaacagcattaattgtgca																										TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chrY:14888667delA	ENST00000338981.3	+	19	3457	c.2512delA	c.(2512-2514)aaafs	p.K838fs	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	838					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						TGATGGTGACAAAAACAGCAT	0.328																																						.											0																																										SO:0001589	frameshift_variant	8287			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.2512delA	Y.37:g.14888667delA	ENSP00000342812:p.Lys838fs		O14601	Frame_Shift_Del	DEL	ENST00000338981.3	37	CCDS14781.1																																																																																				0.328	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		-	14888667	A	-	14888667	7	5	45	1	0	1	0	1	0	0	0	0	17088	131	5	0	2578	0	USP9Y	24	14888667	Frame_Shift_Del	DEL	A	TCGA-KN-8430-01A-11D-2310-10		14888667	44484899	112	4477											
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-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	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																																						.											0													66	64	65					1																	16383402		2203	4300	6503	SO:0001819	synonymous_variant	1188			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			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	46	1	0	0	0	0	0	0	0	1	3470	610	22	3		3	CLCNKB	1	16383402	Silent	SNP	C	TCGA-KN-8431-01A-11D-2310-10		16383402	232867219	1	4478											
USP48	84196	mdanderson.org	37	chr1	22109370	22109370	+	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	atgcggtaagcggtctcgatGtgctcctgcgacacctcctc	6	10	11	14	4	1	0	0	0	1	0	5	2	3	0	3	2	4	2	3	2	1	1	rs10917042	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:22109370G>A	ENST00000308271.9	-	1	729	c.81C>T	c.(79-81)caC>caT	p.H27H	USP48_ENST00000400301.1_Silent_p.H27H|USP48_ENST00000421625.2_Silent_p.H27H|USP48_ENST00000529637.1_Silent_p.H27H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	27					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)		CGGTCTCGATGTGCTCCTGCG	0.736													G|||	1411	0.281749	0.028	0.5274	5008	,	,		12624	0.5893		0.2197	False		,,,				2504	0.1973					.											0								G	,	275,4053		11,253,1900	18	16	17		81,81	0.8	1	1	dbSNP_120	17	1858,6642		203,1452,2595	no	coding-synonymous,coding-synonymous	USP48	NM_001032730.1,NM_032236.5	,	214,1705,4495	AA,AG,GG		21.8588,6.354,16.6277	,	27/486,27/1036	22109370	2133,10695	2164	4250	6414	SO:0001819	synonymous_variant	84196			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.81C>T	1.37:g.22109370G>A			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	CCDS30623.1																																																																																				0.736	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		A	22109370	G	A	22109370	2	1	46	1	0	0	0	0	0	0	0	1	17076	1368	48	4		4	USP48	1	22109370	Silent	SNP	G	TCGA-KN-8431-01A-11D-2310-10	5725968	22109370	227141251	2	4479											
C1orf213	80818	broad.mit.edu;hgsc.bcm.edu	37	chr1	23696027	23696028	+	5'Flank	INS	-	-	T																															tagatctcgaattcgtagacINSttgcaggcgaagcccagata																								rs372720347|rs147377149		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:23696027_23696028insT	ENST00000314011.4	-	0	0				Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000335648.3_Frame_Shift_Ins_p.L80fs|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000437367.2_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATTCGTAGACTTGCAGGCGAA	0.564																																						.											0																																										SO:0001631	upstream_gene_variant	148898			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696029_23696029dupT	Exception_encountered		Q658I9	RNA	INS	ENST00000314011.4	37	CCDS233.1																																																																																				0.564	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		T	23696028	-	T	23696027	6	5	46	0	1	1	1	0	0	0	0	0	2030	564	20	0		0	C1orf213	1	23696027	5'Flank	INS	-	TCGA-KN-8431-01A-11D-2310-10	1586657	23696027	225554594	3	4480	108	2									
C1orf213	80818	bcgsc.ca	37	chr1	23696028	23696029	+	5'Flank	INS	-	-	T																															agatctcgaattcgtagactINStgcaggcgaagcccagatat																								rs147377149		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:23696028_23696029insT	ENST00000314011.4	-	0	0				Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000335648.3_Frame_Shift_Ins_p.L80fs|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000437367.2_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATTCGTAGACTTGCAGGCGAAG	0.569																																						.											0																																										SO:0001631	upstream_gene_variant	148898			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696029_23696029dupT	Exception_encountered		Q658I9	RNA	INS	ENST00000314011.4	37	CCDS233.1																																																																																				0.569	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		T	23696029	-	T	23696028	6	5	46	0	1	1	1	0	0	0	0	0	2030	1606	56	0		0	C1orf213	1	23696028	5'Flank	INS	-	TCGA-KN-8431-01A-11D-2310-10	1	23696028	225554593	4	4481	108	2									
OR2T33	391195	mdanderson.org	37	chr1	248436932	248436932	+	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	tgtccatgagggaaagttggCtcaggaggaagtacatgggc	11	8	16	6	0	1	1	1	1	0	0	2	4	2	4	1	5	1	3	1	5	3	2	rs200639224		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:248436932C>T	ENST00000318021.2	-	1	206	c.185G>A	c.(184-186)aGc>aAc	p.S62N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAAAGTTGGCTCAGGAGGAA	0.542																																						.											0								C	ASN/SER	2,4402		0,2,2200	83	75	78		185	2.7	1	1		78	0,8600		0,0,4300	no	missense	OR2T33	NM_001004695.1	46	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	62/321	248436932	2,13002	2202	4300	6502	SO:0001583	missense	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.185G>A	1.37:g.248436932C>T	ENSP00000324687:p.Ser62Asn		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	-	10.52	1.373951	0.24857	4.54E-4	0.0	ENSG00000177212	ENST00000318021	T	0.00402	7.56	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.175206	0.27384	U	0.019616	T	0.00144	0.0004	M	0.88570	2.965	0.09310	N	1	B	0.20368	0.044	B	0.23716	0.048	T	0.50583	-0.8811	10	0.72032	D	0.01	.	2.1724	0.03853	0.1962:0.4885:0.1919:0.1235	.	62	Q8NG76	O2T33_HUMAN	N	62	ENSP00000324687:S62N	ENSP00000324687:S62N	S	-	2	0	OR2T33	246503555	0.000000	0.05858	0.974000	0.42286	0.950000	0.60333	-1.519000	0.02243	1.437000	0.47472	0.494000	0.49563	AGC		0.542	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436932	C	T	248436932	3	4	46	1	0	0	0	0	1	0	0	0	11024	797	28	4	780	4	OR2T33	1	248436932	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	224740904	248436932	813689	5	4482											
HADHB	3032	broad.mit.edu;bcgsc.ca	37	chr2	26502036	26502036	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttctccaccagtgagAccatgggccactctgcagac	9	8	10	14	0	2	3	0	2	2	2	3	4	2	3	4	1	1	2	4	1	0	1			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr2:26502036A>G	ENST00000317799.5	+	9	768	c.664A>G	c.(664-666)Acc>Gcc	p.T222A	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Missense_Mutation_p.T207A|HADHB_ENST00000545822.1_Missense_Mutation_p.T200A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	222					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCAGTGAGACCATGGGCCA	0.537																																						.											0													101	97	98					2																	26502036		2203	4300	6503	SO:0001583	missense	3032				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.664A>G	2.37:g.26502036A>G	ENSP00000325136:p.Thr222Ala		B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756867	0.69648	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.87103	-2.21;-2.21;-2.21	5.69	5.69	0.88448	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.090399	0.85682	D	0.000000	D	0.86973	0.6062	L	0.52364	1.645	0.80722	D	1	P;B;P	0.42692	0.747;0.287;0.787	B;B;P	0.45712	0.358;0.411;0.491	D	0.87747	0.2589	10	0.56958	D	0.05	-23.2145	15.0712	0.72040	1.0:0.0:0.0:0.0	.	207;200;222	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	A	222;207;200	ENSP00000325136:T222A;ENSP00000444295:T207A;ENSP00000442665:T200A	ENSP00000325136:T222A	T	+	1	0	HADHB	26355540	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.044000	0.76578	2.291000	0.77112	0.533000	0.62120	ACC		0.537	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		G	26502036	A	G	26502036	3	3	46	1	0	0	0	0	1	0	0	0	6944	275	10	2	694	2	HADHB	2	26502036	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10		26502036	216697337	6	4483											
NDUFS1	4719	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	207008833	207008833	+	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	ttggctcggtaagtctttgaCgttttagcccatcataggca	8	14	10	9	2	2	1	1	1	1	0	3	1	2	1	1	3	1	4	1	3	3	6	rs137994727		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr2:207008833C>G	ENST00000233190.6	-	10	1162	c.896G>C	c.(895-897)cGt>cCt	p.R299P	NDUFS1_ENST00000455934.2_Missense_Mutation_p.R313P|NDUFS1_ENST00000457011.1_Missense_Mutation_p.R183P|NDUFS1_ENST00000432169.1_Missense_Mutation_p.R188P|NDUFS1_ENST00000423725.1_Missense_Mutation_p.R242P|NDUFS1_ENST00000440274.1_Missense_Mutation_p.R263P|NDUFS1_ENST00000449699.1_Missense_Mutation_p.R299P	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	299	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						AAGTCTTTGACGTTTTAGCCC	0.368																																						.											0													101	98	99					2																	207008833		2203	4300	6503	SO:0001583	missense	4719				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.896G>C	2.37:g.207008833C>G	ENSP00000233190:p.Arg299Pro		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241323	0.79912	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.87	4.04	0.47022	.	0.093926	0.64402	D	0.000001	D	0.90130	0.6916	M	0.89214	3.015	0.80722	D	1	P;D;D;D	0.89917	0.819;1.0;1.0;1.0	B;D;D;D	0.83275	0.19;0.996;0.996;0.993	D	0.90265	0.4303	10	0.59425	D	0.04	-23.6636	11.7113	0.51626	0.0:0.8093:0.1241:0.0665	.	188;263;313;299	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	P	299;242;183;263;313;299;188	ENSP00000233190:R299P;ENSP00000397760:R242P;ENSP00000400976:R183P;ENSP00000409766:R263P;ENSP00000392709:R313P;ENSP00000399912:R299P;ENSP00000409689:R188P	ENSP00000233190:R299P	R	-	2	0	NDUFS1	206717078	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.744000	0.85034	0.801000	0.34066	0.591000	0.81541	CGT		0.368	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		G	207008833	C	G	207008833	3	3	46	1	0	0	0	0	1	0	0	0	10291	536	19	5	1327	5	NDUFS1	2	207008833	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	180506797	207008833	36190540	7	4484											
GPD1L	23171	broad.mit.edu	37	chr3	32169635	32169643	+	In_Frame_Del	DEL	AAGATGTGG	AAGATGTGG	-																															agaaatttgcctccacagtcAagatgtgggtctttgaagaa																										TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	AAGATGTGG	AAGATGTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr3:32169635_32169643delAAGATGTGG	ENST00000282541.5	+	2	316_324	c.115_123delAAGATGTGG	c.(115-123)aagatgtggdel	p.KMW39del		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	39					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						CTCCACAGTCAAGATGTGGGTCTTTGAAG	0.354																																						.											0																																										SO:0001651	inframe_deletion	23171			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.115_123delAAGATGTGG	3.37:g.32169635_32169643delAAGATGTGG	ENSP00000282541:p.Lys39_Trp41del		A8K9U3|Q14702|Q9BRM5	In_Frame_Del	DEL	ENST00000282541.5	37	CCDS33729.1																																																																																				0.354	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		-	32169643	AAGATGTGG	-	32169635	7	5	46	1	0	1	0	1	0	0	0	0	6605	131	5	0	121	0	GPD1L	3	32169635	In_Frame_Del	DEL	AAGATGTGG	TCGA-KN-8431-01A-11D-2310-10		32169635	165852795	8	4485	109	2									
GPD1L	23171	bcgsc.ca	37	chr3	32169636	32169644	+	In_Frame_Del	DEL	AAGATGTGG	AAGATGTGG	-																															gaaatttgcctccacagtcaAgatgtgggtctttgaagaaa																										TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	AAGATGTGG	AAGATGTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr3:32169636_32169644delAAGATGTGG	ENST00000282541.5	+	2	317_325	c.116_124delAAGATGTGG	c.(115-126)aaagatgtggtc>atc	p.39_42KDVV>I		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	39					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						TCCACAGTCAAGATGTGGGTCTTTGAAGA	0.354																																						.											0																																										SO:0001651	inframe_deletion	23171			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.116_124delAAGATGTGG	3.37:g.32169636_32169644delAAGATGTGG	ENSP00000282541:p.Lys39_Val42delinsIle		A8K9U3|Q14702|Q9BRM5	In_Frame_Del	DEL	ENST00000282541.5	37	CCDS33729.1																																																																																				0.354	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		-	32169644	AAGATGTGG	-	32169636	7	5	46	1	0	1	0	1	0	0	0	0	6605	72	3	0	122	0	GPD1L	3	32169636	In_Frame_Del	DEL	AAGATGTGG	TCGA-KN-8431-01A-11D-2310-10	1	32169636	165852794	9	4486	109	2									
NHEDC1	150159	mdanderson.org	37	chr4	103826788	103826788	+	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	cgaacacataatgccaaactTagagtggcaacagatatgcc	16	7	8	10	1	0	2	0	0	0	2	0	3	0	2	2	1	5	1	2	1	6	3	rs201197585		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr4:103826788T>G	ENST00000296422.7	-	11	1356	c.1215A>C	c.(1213-1215)ctA>ctC	p.L405L	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Silent_p.L405L	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	405					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)	p.L405L(1)									ATGCCAAACTTAGAGTGGCAA	0.318																																						.											1	Substitution - coding silent(1)	pancreas(1)											54	54	54					4																	103826788		2201	4295	6496	SO:0001819	synonymous_variant	150159			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.1215A>C	4.37:g.103826788T>G			A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	CCDS34041.1																																																																																				0.318	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		G	103826788	T	G	103826788	2	3	46	1	0	0	0	0	0	0	0	1	10400	1741	61	5		5	NHEDC1	4	103826788	Silent	SNP	T	TCGA-KN-8431-01A-11D-2310-10		103826788	87327488	10	4487											
CCNA2	890	broad.mit.edu	37	chr4	122743634	122743634	+	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	aaactaatggctgaattaaaAgccagggcatcttcacgctc	14	9	8	10	1	2	1	1	1	1	0	3	1	2	1	1	2	2	3	1	2	5	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr4:122743634A>G	ENST00000274026.5	-	2	684	c.381T>C	c.(379-381)gcT>gcC	p.A127A		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	127					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CTGAATTAAAAGCCAGGGCAT	0.413																																						.											0													102	100	101					4																	122743634		2203	4300	6503	SO:0001819	synonymous_variant	890				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.381T>C	4.37:g.122743634A>G			A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Silent	SNP	ENST00000274026.5	37	CCDS3723.1																																																																																				0.413	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		G	122743634	A	G	122743634	2	3	46	1	0	0	0	0	0	0	0	1	2910	59	3	2		2	CCNA2	4	122743634	Silent	SNP	A	TCGA-KN-8431-01A-11D-2310-10	18916846	122743634	68410642	11	4488											
NPY2R	4887	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	156136035	156136035	+	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	agtgttccacatcatcgccaTgtgctccacttttgccaatc	8	13	6	14	1	1	0	1	0	0	0	5	0	3	0	4	0	2	2	4	0	1	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr4:156136035T>A	ENST00000329476.3	+	2	1433	c.944T>A	c.(943-945)aTg>aAg	p.M315K	NPY2R_ENST00000506608.1_Missense_Mutation_p.M315K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	315					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ATCATCGCCATGTGCTCCACT	0.537																																						.											0													125	99	108					4																	156136035		2203	4300	6503	SO:0001583	missense	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.944T>A	4.37:g.156136035T>A	ENSP00000332591:p.Met315Lys		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026321	0.75390	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.64803	-0.12;-0.12	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88428	0.3033	10	0.87932	D	0	.	15.4267	0.75059	0.0:0.0:0.0:1.0	.	315	P49146	NPY2R_HUMAN	K	315	ENSP00000332591:M315K;ENSP00000426366:M315K	ENSP00000332591:M315K	M	+	2	0	NPY2R	156355485	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.040000	0.89188	2.236000	0.73375	0.523000	0.50628	ATG		0.537	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		A	156136035	T	A	156136035	3	1	46	1	0	0	0	0	1	0	0	0	10609	1464	51	5	946	5	NPY2R	4	156136035	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10	33392401	156136035	35018241	12	4489											
KIF2A	3796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	61653554	61653554	+	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	tatgtgtgtgtgtaagaaaaCgaccactcaataaaaaaggt	17	10	9	5	1	1	1	1	0	0	1	1	2	1	1	1	1	1	1	1	1	8	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr5:61653554C>T	ENST00000401507.3	+	8	1002	c.691C>T	c.(691-693)Cga>Tga	p.R231*	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Nonsense_Mutation_p.R231*|KIF2A_ENST00000381103.2_Nonsense_Mutation_p.R211*|KIF2A_ENST00000506857.1_Nonsense_Mutation_p.R185*	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	231	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 differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGTAAGAAAACGACCACTCAA	0.254																																						.											0													75	79	78					5																	61653554		2201	4297	6498	SO:0001587	stop_gained	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.691C>T	5.37:g.61653554C>T	ENSP00000385622:p.Arg231*		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Nonsense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	38	7.152452	0.98099	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000506857	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9318	0.92570	0.0:1.0:0.0:0.0	.	.	.	.	X	231;211;212;231;185	.	ENSP00000370493:R211X	R	+	1	2	KIF2A	61689311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.421000	0.59848	2.459000	0.83118	0.585000	0.79938	CGA		0.254	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		T	61653554	C	T	61653554	4	4	46	1	0	0	0	0	0	1	0	0	8297	528	19	1	721	1	KIF2A	5	61653554	Nonsense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10		61653554	119261706	13	4490											
MEF2C	4208	hgsc.bcm.edu	37	chr5	88025096	88025096	+	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	attccttgtcctggtaaagtAggagttgctacggaaaccac	11	11	10	9	1	0	0	0	0	0	0	2	2	2	2	3	3	3	4	3	3	5	6			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr5:88025096A>G	ENST00000437473.2	-	9	1320	c.903T>C	c.(901-903)ccT>ccC	p.P301P	MEF2C_ENST00000340208.5_Silent_p.P311P|MEF2C_ENST00000514028.1_Silent_p.P301P|MEF2C_ENST00000424173.2_Silent_p.P291P|MEF2C_ENST00000508569.1_Silent_p.P293P|MEF2C_ENST00000506554.1_Silent_p.P301P|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000510942.1_Silent_p.P293P|MEF2C_ENST00000514015.1_Silent_p.P301P|MEF2C_ENST00000504921.2_Silent_p.P301P|MEF2C_ENST00000539796.1_Silent_p.P245P	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	301					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)		CTGGTAAAGTAGGAGTTGCTA	0.398										HNSCC(66;0.2)																												.											0													74	82	80					5																	88025096		1860	4108	5968	SO:0001819	synonymous_variant	4208			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.903T>C	5.37:g.88025096A>G			C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	CCDS47245.1																																																																																				0.398	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		G	88025096	A	G	88025096	2	3	46	1	0	0	0	0	0	0	0	1	9457	407	15	2		2	MEF2C	5	88025096	Silent	SNP	A	TCGA-KN-8431-01A-11D-2310-10	26371542	88025096	92890164	14	4491											
DMXL1	1657	broad.mit.edu	37	chr5	118525451	118525451	+	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	acagaacaaacgttttaggcCgtcaaaaatgtcttgcagag	15	9	9	8	2	2	2	1	0	1	2	2	2	2	2	1	1	3	2	1	1	5	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr5:118525451C>T	ENST00000311085.8	+	29	7264	c.7184C>T	c.(7183-7185)cCg>cTg	p.P2395L	DMXL1_ENST00000539542.1_Missense_Mutation_p.P2395L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2395										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)		CGTTTTAGGCCGTCAAAAATG	0.403																																						.											0													103	104	104					5																	118525451		2202	4300	6502	SO:0001583	missense	1657			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.7184C>T	5.37:g.118525451C>T	ENSP00000309690:p.Pro2395Leu			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866827	0.32977	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.08634	3.07;3.07	5.95	5.95	0.96441	.	0.611989	0.18961	N	0.126395	T	0.06781	0.0173	N	0.22421	0.69	0.38100	D	0.937229	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.40346	-0.9568	10	0.18710	T	0.47	-1.0995	13.5655	0.61815	0.0:0.9292:0.0:0.0708	.	2395;2395	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2395	ENSP00000309690:P2395L;ENSP00000439479:P2395L	ENSP00000309690:P2395L	P	+	2	0	DMXL1	118553350	1.000000	0.71417	0.995000	0.50966	0.581000	0.36288	2.212000	0.42835	2.821000	0.97095	0.650000	0.86243	CCG		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		T	118525451	C	T	118525451	3	4	46	1	0	0	0	0	1	0	0	0	4594	652	23	1	7298	1	DMXL1	5	118525451	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	30500355	118525451	62389809	15	4492											
GCNT2	2651	ucsc.edu	37	chr6	10626704	10626704	+	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	cggagacttaaagtggctggTtaattcaccaagcctgtttg	10	12	11	8	1	1	1	1	0	0	1	1	2	1	1	2	3	1	3	2	3	4	4	rs200336999		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:10626704T>G	ENST00000379597.3	+	3	1629	c.1073T>G	c.(1072-1074)gTt>gGt	p.V358G	GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000316170.3_Missense_Mutation_p.V356G|GCNT2_ENST00000495262.1_Missense_Mutation_p.V358G|GCNT2_ENST00000265012.4_Missense_Mutation_p.V358G|GCNT2_ENST00000410107.1_Missense_Mutation_p.V72G			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	358					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)		AAGTGGCTGGTTAATTCACCA	0.423																																						.											0													110	109	109					6																	10626704		2203	4300	6503	SO:0001583	missense	2651			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.1073T>G	6.37:g.10626704T>G	ENSP00000368917:p.Val358Gly			Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655719	0.47467	.	.	ENSG00000111846	ENST00000410107;ENST00000495262;ENST00000379597;ENST00000316170;ENST00000265012	T;T;T;T;T	0.47869	0.83;2.85;2.85;2.85;2.86	5.6	1.6	0.23607	.	1.025490	0.07750	N	0.948455	T	0.24967	0.0606	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.31705	0.336;0.154;0.336;0.076	B;B;B;B	0.39027	0.197;0.079;0.288;0.18	T	0.45687	-0.9244	10	0.72032	D	0.01	-30.6503	7.7404	0.28837	0.241:0.0:0.1261:0.6329	.	358;72;358;356	Q8N0V5;B7ZBL3;Q8NFS9;Q06430	GNT2A_HUMAN;.;GNT2C_HUMAN;GNT2B_HUMAN	G	72;358;358;356;358	ENSP00000386321:V72G;ENSP00000419411:V358G;ENSP00000368917:V358G;ENSP00000314844:V356G;ENSP00000265012:V358G	ENSP00000265012:V358G	V	+	2	0	GCNT2	10734690	0.181000	0.23161	0.048000	0.18961	0.987000	0.75469	1.266000	0.33039	0.374000	0.24650	0.528000	0.53228	GTT		0.423	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		G	10626704	T	G	10626704	3	3	46	1	0	0	0	0	1	0	0	0	6301	1725	60	5	2935	5	GCNT2	6	10626704	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10		10626704	160488363	16	4493											
HLA-A	3105	bcgsc.ca	37	chr6	29911261	29911261	+	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	gagagcctacctggatggcaCgtgcgtggagtggctccgca	7	7	16	11	3	0	1	0	0	0	1	1	4	1	3	3	4	3	3	3	4	1	1			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:29911261C>G	ENST00000396634.1	+	5	901	c.560C>G	c.(559-561)aCg>aGg	p.T187R	HLA-A_ENST00000376802.2_Missense_Mutation_p.T187R|HLA-A_ENST00000376806.5_Missense_Mutation_p.T187R|HLA-A_ENST00000376809.5_Missense_Mutation_p.T187R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	187	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)	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						CTGGATGGCACGTGCGTGGAG	0.667									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)			g|||	1039	0.207468	0.0809	0.1037	5008	,	,		12986	0.3185		0.2018	False		,,,				2504	0.3436					.											0													45	35	39					6																	29911261		1508	2702	4210	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	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.560C>G	6.37:g.29911261C>G	ENSP00000379873:p.Thr187Arg		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	360	0.16483516483516483	26	0.052845528455284556	33	0.09116022099447514	149	0.26048951048951047	152	0.20052770448548812	.	0.003	-2.554518	0.00138	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00768	5.72;5.72;5.72;5.72	3.78	-7.56	0.01322	MHC class I, alpha chain, alpha1/alpha2 (6);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	80.137900	0.00166	N	0.000017	T	0.00109	0.0003	L	0.33668	1.02	0.80722	P	0.0	B;B;B;B;B;B	0.16396	0.017;0.003;0.003;0.001;0.003;0.003	B;B;B;B;B;B	0.22386	0.017;0.039;0.02;0.009;0.02;0.02	T	0.50980	-0.8763	9	0.05620	T	0.96	.	2.6157	0.04902	0.4361:0.0993:0.2856:0.1791	rs3129017;rs9260159;rs41555617	66;187;187;187;187;187	B4DVB9;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	R	187	ENSP00000379873:T187R;ENSP00000366002:T187R;ENSP00000366005:T187R;ENSP00000365998:T187R	ENSP00000365998:T187R	T	+	2	0	HLA-A	30019240	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-13.082000	0.00001	-8.487000	0.00000	-3.856000	0.00018	ACG		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29911261	C	G	29911261	3	3	46	1	0	0	0	0	1	0	0	0	7195	536	19	5	570	5	HLA-A	6	29911261	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	19284557	29911261	141203806	17	4494											
KCNK5	8645	hgsc.bcm.edu	37	chr6	39159435	39159435	+	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	ccacaaacatgctcaccttcCagttgacaaaaagggacagc	15	6	7	13	0	1	1	1	1	0	0	2	2	2	2	3	1	3	2	3	1	3	2			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:39159435C>T	ENST00000359534.3	-	5	1069	c.731G>A	c.(730-732)tGg>tAg	p.W244*		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	244					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCTCACCTTCCAGTTGACAAA	0.587																																						.											0													83	92	89					6																	39159435		2203	4300	6503	SO:0001587	stop_gained	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.731G>A	6.37:g.39159435C>T	ENSP00000352527:p.Trp244*		B2RAQ6|B5TJL2|Q5VV76	Nonsense_Mutation	SNP	ENST00000359534.3	37	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	39	7.558550	0.98358	.	.	ENSG00000164626	ENST00000359534	.	.	.	5.27	5.27	0.74061	.	0.691332	0.14594	N	0.310056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2502	0.93921	0.0:1.0:0.0:0.0	.	.	.	.	X	244	.	ENSP00000352527:W244X	W	-	2	0	KCNK5	39267413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.880000	0.69698	2.619000	0.88677	0.561000	0.74099	TGG		0.587	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		T	39159435	C	T	39159435	4	4	46	1	0	0	0	0	0	1	0	0	8069	595	21	4	772	4	KCNK5	6	39159435	Nonsense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	9248174	39159435	131955632	18	4495											
TREML2	79865	mdanderson.org	37	chr6	41166022	41166022	+	Silent	SNP	A	A	G																															cctttcacccagactcgggcAaagccaggctcacacttctt																								rs386700523|rs139267947		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:41166022A>G	ENST00000483722.1	-	2	386	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	67	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)					AGACTCGGGCAAAGCCAGGCT	0.572																																						.											0													135	134	134					6																	41166022		2203	4300	6503	SO:0001819	synonymous_variant	79865			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.201T>C	6.37:g.41166022A>G			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		G	41166022	A	G	41166022	2	3	46	1	0	0	0	0	0	0	0	1	16470	127	5	4		4	TREML2	6	41166022	Silent	SNP	A	TCGA-KN-8431-01A-11D-2310-10	2006587	41166022	129949045	19	4496	110	2									
TREML2	79865	mdanderson.org	37	chr6	41166025	41166025	+	Silent	SNP	G	G	A																															ttcacccagactcgggcaaaGccaggctcacacttcttctt																								rs113267424	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:41166025G>A	ENST00000483722.1	-	2	383	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	66	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)					CTCGGGCAAAGCCAGGCTCAC	0.567																																						.											0													139	139	139					6																	41166025		2203	4300	6503	SO:0001819	synonymous_variant	79865			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.198C>T	6.37:g.41166025G>A			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.567	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41166025	G	A	41166025	2	1	46	1	0	0	0	0	0	0	0	1	16470	958	34	4		4	TREML2	6	41166025	Silent	SNP	G	TCGA-KN-8431-01A-11D-2310-10	3	41166025	129949042	20	4497	110	2									
DST	667	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	56480802	56480802	+	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	cagtaagaggatcaattatgCcccctgtactgacttgggct	10	11	10	10	0	1	2	1	1	0	1	1	3	1	3	2	2	2	3	2	2	4	4			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr6:56480802C>T	ENST00000370765.6	-	24	7570	c.7463G>A	c.(7462-7464)gGc>gAc	p.G2488D	DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1784					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)			ATCAATTATGCCCCCTGTACT	0.517																																						.											0													71	77	75					6																	56480802		2203	4300	6503	SO:0001583	missense	667			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	ENST00000370765.6:c.7463G>A	6.37:g.56480802C>T	ENSP00000359801:p.Gly2488Asp		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	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322255	0.81580	.	.	ENSG00000151914	ENST00000370765	D	0.86030	-2.06	5.94	5.94	0.96194	.	.	.	.	.	D	0.92341	0.7570	.	.	.	0.35699	D	0.815492	D	0.89917	1.0	D	0.97110	1.0	D	0.91303	0.5068	7	0.52906	T	0.07	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	2488	Q03001-3	.	D	2488	ENSP00000359801:G2488D	ENSP00000359801:G2488D	G	-	2	0	DST	56588761	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	7.818000	0.86416	2.822000	0.97130	0.557000	0.71058	GGC		0.517	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56480802	C	T	56480802	3	4	46	1	0	0	0	0	1	0	0	0	4783	739	26	3	12936	3	DST	6	56480802	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	15314777	56480802	114634265	21	4498											
RINT1	60561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	105182935	105182935	+	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	gaatcaaagcaatttcttaaTcagtttctggagcaggaaac	15	11	8	7	0	4	0	2	0	2	0	4	3	4	2	0	2	3	3	0	2	5	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr7:105182935T>C	ENST00000257700.2	+	4	585	c.354T>C	c.(352-354)aaT>aaC	p.N118N	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	118					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATTTCTTAATCAGTTTCTGG	0.378																																						.											0													96	98	97					7																	105182935		2203	4300	6503	SO:0001819	synonymous_variant	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.354T>C	7.37:g.105182935T>C			Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Silent	SNP	ENST00000257700.2	37	CCDS34726.1																																																																																				0.378	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		C	105182935	T	C	105182935	2	2	46	1	0	0	0	0	0	0	0	1	13376	1432	50	4		4	RINT1	7	105182935	Silent	SNP	T	TCGA-KN-8431-01A-11D-2310-10		105182935	53955728	22	4499											
CTAGE6P	340307	broad.mit.edu	37	chr7	143453697	143453697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttttaatatgctctgtaAgctcttcctttgttttgtcc	6	21	6	8	0	2	0	0	0	2	0	4	1	4	0	2	0	2	4	2	0	3	9			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr7:143453697A>G	ENST00000470691.2	-	1	1092	c.1055T>C	c.(1054-1056)cTt>cCt	p.L352P	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	352						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					ATGCTCTGTAAGCTCTTCCTT	0.303																																						.											0													16	13	14					7																	143453697		1804	4014	5818	SO:0001583	missense	340307			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"CTAGE family, member 6, pseudogene"	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1055T>C	7.37:g.143453697A>G	ENSP00000474388:p.Leu352Pro		A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37																																																																																					0.303	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		G	143453697	A	G	143453697	3	3	46	1	0	0	0	0	1	0	0	0	3995	72	3	2	1282	2	CTAGE6P	7	143453697	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	38270762	143453697	15684966	23	4500											
SMARCA2	6595	broad.mit.edu	37	chr9	2039815	2039815	+	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	cagcagcagcagcagcagcaGcaacagcagccgcagcagca	14	0	12	15	1	0	0	0	0	0	0	0	0	0	0	1	0	12	11	1	0	1	0	rs574062756	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr9:2039815G>A	ENST00000382203.1	+	4	914	c.705G>A	c.(703-705)caG>caA	p.Q235Q	SMARCA2_ENST00000382194.1_Silent_p.Q235Q|SMARCA2_ENST00000357248.2_Silent_p.Q235Q|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Silent_p.Q235Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	235	Poly-Gln.				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)		agcagcagcagcaacagcagc	0.587													G|||	41	0.0081869	0.0151	0.0029	5008	,	,		10366	0.0089		0	False		,,,				2504	0.0102					.											0													10	13	12					9																	2039815		2161	4205	6366	SO:0001819	synonymous_variant	6595			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.705G>A	9.37:g.2039815G>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039815	G	A	2039815	2	1	46	1	0	0	0	0	0	0	0	1	14769	962	34	4		4	SMARCA2	9	2039815	Silent	SNP	G	TCGA-KN-8431-01A-11D-2310-10		2039815	139173616	24	4501											
C8G	733	broad.mit.edu	37	chr9	139839860	139839860	+	Missense_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	ctcagaggccacgccggcccGcatcccccatcagcaccatc	8	4	8	21	3	2	1	2	0	0	1	4	1	3	1	6	2	1	2	6	2	0	0			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr9:139839860G>T	ENST00000224181.3	+	1	148	c.88G>T	c.(88-90)Gca>Tca	p.A30S	FBXW5_ENST00000483559.1_5'Flank|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	30					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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACGCCGGCCCGCATCCCCCAT	0.647											OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													18	19	18					9																	139839860		2195	4295	6490	SO:0001583	missense	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"Complement system", "Lipocalins"	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.88G>T	9.37:g.139839860G>T	ENSP00000224181:p.Ala30Ser	1651	Q14CT8|Q14CU0|Q5SQ07	Missense_Mutation	SNP	ENST00000224181.3	37	CCDS7017.1	.	.	.	.	.	.	.	.	.	.	g	9.776	1.174015	0.21704	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	T;T	0.23950	1.88;2.67	5.06	-5.45	0.02616	Calycin-like (1);Calycin (1);	1.279830	0.05352	N	0.532000	T	0.18551	0.0445	L	0.36672	1.1	0.09310	N	1	B	0.26258	0.145	B	0.20577	0.03	T	0.31916	-0.9926	10	0.46703	T	0.11	-4.3064	9.5945	0.39565	0.4247:0.199:0.3763:0.0	.	30	P07360	CO8G_HUMAN	S	30	ENSP00000360697:A30S;ENSP00000224181:A30S	ENSP00000224181:A30S	A	+	1	0	C8G	138959681	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.305000	0.02738	-1.057000	0.03201	-0.328000	0.08392	GCA		0.647	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055178.1			T	139839860	G	T	139839860	3	4	46	1	0	0	0	0	1	0	0	0	2418	1087	38	5	90	5	C8G	9	139839860	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	137800045	139839860	1373571	25	4502											
FBXO18	84893	bcgsc.ca	37	chr10	5960320	5960320	+	Missense_Mutation	SNP	T	T	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	tacagctatcatgaacatagTtctgtctcagccatgtggga	11	12	9	9	0	3	1	2	1	2	0	4	2	3	2	1	1	4	2	1	1	4	4			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr10:5960320T>C	ENST00000362091.4	+	13	2094	c.1979T>C	c.(1978-1980)gTt>gCt	p.V660A	FBXO18_ENST00000397269.3_Missense_Mutation_p.V147A|FBXO18_ENST00000379999.5_Missense_Mutation_p.V711A	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	660					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						ATGAACATAGTTCTGTCTCAG	0.512																																						.											0													151	156	154					10																	5960320		2203	4300	6503	SO:0001583	missense	84893			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.1979T>C	10.37:g.5960320T>C	ENSP00000355415:p.Val660Ala		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656864	0.88154	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.82433	-1.61;-1.61;-1.61	6.0	6.0	0.97389	.	0.264586	0.38548	N	0.001659	D	0.84156	0.5410	L	0.39898	1.24	0.50313	D	0.999867	D;P;P	0.53745	0.962;0.918;0.931	P;P;P	0.52454	0.466;0.525;0.699	D	0.85834	0.1393	10	0.72032	D	0.01	-23.0821	16.2107	0.82151	0.0:0.0:0.0:1.0	.	711;660;586	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	A	147;660;711	ENSP00000380439:V147A;ENSP00000355415:V660A;ENSP00000369335:V711A	ENSP00000355415:V660A	V	+	2	0	FBXO18	6000326	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.192000	0.77771	2.299000	0.77371	0.529000	0.55759	GTT		0.512	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		C	5960320	T	C	5960320	3	2	46	1	0	0	0	0	1	0	0	0	5731	1725	60	2	2191	2	FBXO18	10	5960320	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10		5960320	129574427	26	4503											
IDE	3416	ucsc.edu	37	chr10	94291641	94291641	+	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	tctctgtctttgcaactttcAtcgaacaaggggcacagaaa	12	11	8	10	1	3	1	1	0	2	1	5	2	3	1	0	2	3	2	0	2	4	2			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr10:94291641A>G	ENST00000265986.6	-	4	581	c.525T>C	c.(523-525)gaT>gaC	p.D175D		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	175					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)"	TGCAACTTTCATCGAACAAGG	0.363																																						.											0													73	68	70					10																	94291641		2203	4300	6503	SO:0001819	synonymous_variant	3416			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.525T>C	10.37:g.94291641A>G			B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	CCDS7421.1																																																																																				0.363	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		G	94291641	A	G	94291641	2	3	46	1	0	0	0	0	0	0	0	1	7493	214	8	4		4	IDE	10	94291641	Silent	SNP	A	TCGA-KN-8431-01A-11D-2310-10	88331321	94291641	41243106	27	4504											
MUC6	4588	mdanderson.org	37	chr11	1017654	1017654	+	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	ttcctgtactggtggggttgGgggtgatgttggtggtagaa	5	14	19	3	0	0	2	0	1	0	1	1	2	1	2	1	7	1	4	1	7	3	5			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:1017654G>A	ENST00000421673.2	-	31	5197	c.5147C>T	c.(5146-5148)cCc>cTc	p.P1716L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1716	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)		GGTGGGGTTGGGGGTGATGTT	0.517																																						.											0													586	579	581					11																	1017654		2195	4281	6476	SO:0001583	missense	4588			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.5147C>T	11.37:g.1017654G>A	ENSP00000406861:p.Pro1716Leu		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728666	0.15507	.	.	ENSG00000184956	ENST00000421673	T	0.22539	1.95	1.58	0.52	0.17040	.	.	.	.	.	T	0.16854	0.0405	L	0.58101	1.795	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30357	-0.9981	9	0.33940	T	0.23	.	2.2855	0.04125	0.2093:0.0:0.4243:0.3664	.	1716	Q6W4X9	MUC6_HUMAN	L	1716	ENSP00000406861:P1716L	ENSP00000406861:P1716L	P	-	2	0	MUC6	1007654	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	0.316000	0.19469	0.185000	0.20105	0.271000	0.19318	CCC		0.517	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017654	G	A	1017654	3	1	46	1	0	0	0	0	1	0	0	0	9980	1232	43	3	2184	3	MUC6	11	1017654	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10		1017654	133988862	28	4505			1	34		2	2	16	G		2.858787e-05
MUC6	4588	mdanderson.org	37	chr11	1017669	1017669	+	Missense_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	ggttgggggtgatgttggtgGtagaagttgaggtggcttca	6	13	20	2	0	1	3	1	2	0	1	1	3	1	3	0	7	0	5	0	7	2	5			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:1017669G>A	ENST00000421673.2	-	31	5182	c.5132C>T	c.(5131-5133)aCc>aTc	p.T1711I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1711	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)		GATGTTGGTGGTAGAAGTTGA	0.532																																						.											0													642	631	635					11																	1017669		2196	4287	6483	SO:0001583	missense	4588			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.5132C>T	11.37:g.1017669G>A	ENSP00000406861:p.Thr1711Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.740	0.700992	0.15172	.	.	ENSG00000184956	ENST00000421673	T	0.18810	2.19	1.44	0.44	0.16572	.	.	.	.	.	T	0.09686	0.0238	N	0.22421	0.69	0.09310	N	1	P	0.50819	0.939	B	0.33454	0.164	T	0.23013	-1.0200	9	0.38643	T	0.18	.	6.7634	0.23552	0.0:0.0:0.7213:0.2787	.	1711	Q6W4X9	MUC6_HUMAN	I	1711	ENSP00000406861:T1711I	ENSP00000406861:T1711I	T	-	2	0	MUC6	1007669	0.000000	0.05858	0.003000	0.11579	0.070000	0.16714	-0.005000	0.12855	0.159000	0.19401	0.281000	0.19383	ACC		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017669	G	A	1017669	3	1	46	1	0	0	0	0	1	0	0	0	9980	1261	44	3	2199	3	MUC6	11	1017669	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	15	1017669	133988847	29	4506			1	34		2	2	16	G		2.858787e-05
OR5M9	390162	broad.mit.edu	37	chr11	56230641	56230641	+	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	tctgataataagttttccagCattttgggggtaacgttgga	10	15	11	5	1	1	1	0	1	1	0	2	2	2	2	1	3	2	4	1	3	3	8			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:56230641C>A	ENST00000279791.1	-	1	236	c.237G>T	c.(235-237)atG>atT	p.M79I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	79						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(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGTTTTCCAGCATTTTGGGGG	0.453																																						.											0													87	89	89					11																	56230641		2201	4296	6497	SO:0001583	missense	390162			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.237G>T	11.37:g.56230641C>A	ENSP00000279791:p.Met79Ile		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423338	0.43020	.	.	ENSG00000150269	ENST00000279791	T	0.05513	3.43	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.10380	0.0254	L	0.58510	1.815	0.31057	N	0.714523	P	0.35226	0.491	B	0.35971	0.215	T	0.01935	-1.1244	10	0.87932	D	0	-37.1441	15.8179	0.78618	0.0:1.0:0.0:0.0	.	79	Q8NGP3	OR5M9_HUMAN	I	79	ENSP00000279791:M79I	ENSP00000279791:M79I	M	-	3	0	OR5M9	55987217	0.000000	0.05858	1.000000	0.80357	0.763000	0.43281	0.307000	0.19296	2.394000	0.81467	0.549000	0.68633	ATG		0.453	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		A	56230641	C	A	56230641	3	1	46	1	0	0	0	0	1	0	0	0	11177	710	25	5	697	5	OR5M9	11	56230641	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	55212972	56230641	78775875	30	4507											
NUMA1	10068	broad.mit.edu	37	chr11	71715034	71715034	+	IGR	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	gcgggttccactgcgagtgtTgggggaagccttggacaggg	6	8	19	8	2	0	0	0	0	0	0	1	3	1	2	2	5	2	2	2	5	1	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:71715034T>G	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Missense_Mutation_p.N943H|NUMA1_ENST00000358965.6_Missense_Mutation_p.N2065H|NUMA1_ENST00000393695.3_Missense_Mutation_p.N2079H	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						CTGCGAGTGTTGGGGGAAGCC	0.642																																						.											0													68	79	75					11																	71715034		2200	4293	6493	SO:0001628	intergenic_variant	4926			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.71715034T>G			B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	T	15.27	2.785011	0.49997	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.18338	2.22;2.7;2.7	4.94	3.79	0.43588	.	0.757314	0.12099	N	0.499697	T	0.20659	0.0497	N	0.14661	0.345	0.30119	N	0.80582	P;P;P;D	0.64830	0.547;0.514;0.547;0.994	B;B;B;P	0.62560	0.346;0.351;0.346;0.904	T	0.05273	-1.0895	10	0.54805	T	0.06	.	8.8246	0.35047	0.0:0.0:0.3009:0.6991	.	2085;2065;2079;943	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	H	943;2065;2079;1628;1052	ENSP00000260051:N943H;ENSP00000351851:N2065H;ENSP00000377298:N2079H	ENSP00000260051:N943H	N	-	1	0	NUMA1	71392682	0.004000	0.15560	0.959000	0.39883	0.398000	0.30690	1.487000	0.35540	2.081000	0.62600	0.533000	0.62120	AAC		0.642	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		G	71715034	T	G	71715034	1	3	46	0	1	0	0	0	0	0	0	0	10750	1812	63	5		5	NUMA1	11	71715034	IGR	SNP	T	TCGA-KN-8431-01A-11D-2310-10	15484393	71715034	63291482	31	4508											
MED17	9440	mdanderson.org	37	chr11	93517886	93517886	+	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	accgagggcgacgcgcaggaGtggccgggcgccgggtccag	6	2	20	13	7	0	0	0	0	0	0	1	3	1	1	4	5	0	1	4	5	0	0	rs2848477	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:93517886G>C	ENST00000251871.3	+	1	494	c.207G>C	c.(205-207)gaG>gaC	p.E69D	MED17_ENST00000530819.1_Missense_Mutation_p.E69D	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	69			E -> D (in dbSNP:rs2848477). {ECO:0000269|PubMed:10198638, ECO:0000269|PubMed:10235266, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18691976, ECO:0000269|PubMed:19369195}.		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)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGCGCAGGAGTGGCCGGGCG	0.726											OREG0021291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2833	0.565695	0.2821	0.7464	5008	,	,		13355	0.7411		0.6382	False		,,,				2504	0.5654					.											0								C	ASP/GLU	1525,2613		338,849,882	8	7	7		207	1.7	1	11	dbSNP_100	7	5300,2958		1815,1670,644	no	missense	MED17	NM_004268.4	45	2153,2519,1526	CC,CG,GG		35.8198,36.8536,44.9419	benign	69/652	93517886	6825,5571	2069	4129	6198	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.207G>C	11.37:g.93517886G>C	ENSP00000251871:p.Glu69Asp	1298	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	1311	0.6002747252747253	130	0.26422764227642276	259	0.7154696132596685	427	0.7465034965034965	495	0.6530343007915568	C	3.538	-0.094237	0.07053	0.368536	0.641802	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359	T;T;T	0.55588	0.51;0.51;0.51	5.76	1.67	0.24075	.	0.143160	0.64402	N	0.000006	T	0.00012	0.0000	L	0.50333	1.59	0.51482	P	7.199999999996098E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41251	-0.9519	9	0.12103	T	0.63	-17.8592	6.367	0.21461	0.0:0.5236:0.2246:0.2518	rs2848477;rs17845635;rs17858567	69;69	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	D	69;69;39;69	ENSP00000251871:E69D;ENSP00000434459:E69D;ENSP00000431524:E69D	ENSP00000251871:E69D	E	+	3	2	MED17	93157534	0.996000	0.38824	1.000000	0.80357	0.330000	0.28571	0.190000	0.17057	0.391000	0.25143	-0.216000	0.12614	GAG		0.726	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		C	93517886	G	C	93517886	3	2	46	1	0	0	0	0	1	0	0	0	9435	1020	36	5	209	5	MED17	11	93517886	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	21802852	93517886	41488630	32	4509											
CNTN5	53942	mdanderson.org	37	chr11	99690461	99690461	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattattattcccccatcaAtctttatcattcctcagatg	11	16	3	11	0	4	1	3	0	1	1	6	2	6	1	3	0	0	0	3	0	5	6	rs10893933		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:99690461A>G	ENST00000524871.1	+	4	532	c.242A>G	c.(241-243)aAt>aGt	p.N81S	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.N81S|CNTN5_ENST00000527185.1_Missense_Mutation_p.N81S|CNTN5_ENST00000279463.3_Missense_Mutation_p.N81S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	81			N -> S (in dbSNP:rs10893933).		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)		TCCCCCATCAATCTTTATCAT	0.428																																						.											0													53	52	52					11																	99690461		1877	4084	5961	SO:0001583	missense	53942			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.242A>G	11.37:g.99690461A>G	ENSP00000435637:p.Asn81Ser		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	5.900	0.350168	0.11182	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.53857	0.6;0.67;0.67;0.67	5.06	1.42	0.22433	.	0.775582	0.11744	N	0.533735	T	0.31513	0.0799	N	0.19112	0.55	0.31324	P	0.685664	B;B	0.19445	0.036;0.036	B;B	0.15052	0.012;0.012	T	0.37619	-0.9698	9	0.08179	T	0.78	.	8.939	0.35718	0.7862:0.0:0.2138:0.0	rs10893933;rs10893933	81;81	E9PKE8;O94779	.;CNTN5_HUMAN	S	81	ENSP00000433575:N81S;ENSP00000436185:N81S;ENSP00000435637:N81S;ENSP00000279463:N81S	ENSP00000279463:N81S	N	+	2	0	CNTN5	99195671	0.984000	0.35163	0.688000	0.30117	0.746000	0.42486	2.566000	0.45948	0.128000	0.18479	0.528000	0.53228	AAT		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		G	99690461	A	G	99690461	3	3	46	1	0	0	0	0	1	0	0	0	3644	101	4	4	248	4	CNTN5	11	99690461	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	6172575	99690461	35316055	33	4510											
LST-3TM12	338821	hgsc.bcm.edu	37	chr12	21168673	21168673	+	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	agaaaggagatttgagatatCctcttctcttgttggtttaa	11	16	9	5	0	2	3	0	1	2	3	4	5	3	3	1	2	0	2	1	2	3	7	rs560786449		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr12:21168673C>T	ENST00000421593.2	+	1	44	c.44C>T	c.(43-45)tCc>tTc	p.S15F	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTGAGATATCCTCTTCTCTT	0.308													C|||	1	0.000199681	8e-04	0	5008	,	,		14693	0		0	False		,,,				2504	0					.											0													81	81	81					12																	21168673		2149	4285	6434	SO:0001583	missense	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.44C>T	12.37:g.21168673C>T	ENSP00000394168:p.Ser15Phe		Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.201898	0.38905	.	.	ENSG00000205754	ENST00000421593	D	0.85171	-1.95	2.68	2.68	0.31781	.	0.613533	0.18029	N	0.153991	D	0.92011	0.7469	M	0.86502	2.82	0.80722	D	1	D	0.59357	0.985	D	0.65987	0.94	D	0.92969	0.6396	10	0.87932	D	0	.	12.7175	0.57123	0.0:1.0:0.0:0.0	.	15	G3V0H7	.	F	15	ENSP00000394168:S15F	ENSP00000394168:S15F	S	+	2	0	SLCO1B7	21059940	0.541000	0.26417	0.931000	0.37212	0.210000	0.24377	6.583000	0.74053	1.476000	0.48215	0.407000	0.27541	TCC		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		T	21168673	C	T	21168673	3	4	46	1	0	0	0	0	1	0	0	0	9066	855	30	3	46	3	LST-3TM12	12	21168673	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10		21168673	112683222	34	4511											
KDM2B	84678	ucsc.edu	37	chr12	121891003	121891003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccttgcagaagtggcActctccgcactcggtccgca	7	9	10	15	3	1	1	0	0	1	1	5	1	3	1	3	2	1	4	3	2	1	1			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr12:121891003A>G	ENST00000377071.4	-	13	1951	c.1879T>C	c.(1879-1881)Tgc>Cgc	p.C627R	KDM2B_ENST00000536437.1_Missense_Mutation_p.C510R|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Missense_Mutation_p.C596R	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	627					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						CAGAAGTGGCACTCTCCGCAC	0.692																																						.											0													26	31	29					12																	121891003		2048	4183	6231	SO:0001583	missense	84678			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.1879T>C	12.37:g.121891003A>G	ENSP00000366271:p.Cys627Arg		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474763	0.84640	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.77229	-0.16;-0.8;-1.08	5.03	5.03	0.67393	Zinc finger, CXXC-type (2);	0.000000	0.56097	D	0.000023	D	0.91043	0.7182	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.988;0.998	D	0.93505	0.6848	10	0.87932	D	0	-17.4654	14.9219	0.70843	1.0:0.0:0.0:0.0	.	67;510;627;596;67	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	R	627;596;627;510;627;67;627	ENSP00000366269:C596R;ENSP00000366271:C627R;ENSP00000445196:C510R	ENSP00000261824:C627R	C	-	1	0	KDM2B	120375386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.126000	0.94411	2.112000	0.64535	0.454000	0.30748	TGC		0.692	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		G	121891003	A	G	121891003	3	3	46	1	0	0	0	0	1	0	0	0	8125	159	6	2	2227	2	KDM2B	12	121891003	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	100722330	121891003	11960892	35	4512											
FLJ10357	55701	mdanderson.org	37	chr14	21549893	21549893	+	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	agaggaggatccagcaacacGtgggagaggaggcgagccca	13	2	17	9	2	0	2	0	0	0	2	1	7	1	5	2	5	3	1	2	5	1	0	rs7143633	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:21549893G>C	ENST00000298694.4	+	14	2993	c.2866G>C	c.(2866-2868)Gtg>Ctg	p.V956L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.V956L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	956			V -> L (in dbSNP:rs7143633). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCAGCAACACGTGGGAGAGGA	0.741													C|||	3908	0.780351	0.798	0.8963	5008	,	,		15114	0.5546		0.836	False		,,,				2504	0.8497					.											0								C	LEU/VAL	3448,786		1409,630,78	8	10	9		2866	4.8	1	14	dbSNP_116	9	7161,1095		3118,925,85	yes	missense	ARHGEF40	NM_018071.3	32	4527,1555,163	CC,CG,GG		13.2631,18.564,15.06	benign	956/1520	21549893	10609,1881	2117	4128	6245	SO:0001583	missense	55701				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.2866G>C	14.37:g.21549893G>C	ENSP00000298694:p.Val956Leu		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	1650	0.7554945054945055	392	0.7967479674796748	323	0.8922651933701657	308	0.5384615384615384	627	0.8271767810026385	C	0.838	-0.743038	0.03088	0.81436	0.867369	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.01821	4.67;4.62	5.71	4.76	0.60689	.	0.000000	0.43260	N	0.000599	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25152	-1.0140	9	0.02654	T	1	.	12.2401	0.54538	0.0:0.6703:0.3297:0.0	rs7143633;rs61154299;rs7143633	956;956;242	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	L	956	ENSP00000298694:V956L;ENSP00000298693:V956L	ENSP00000298693:V956L	V	+	1	0	ARHGEF40	20619733	0.310000	0.24527	0.974000	0.42286	0.417000	0.31264	0.545000	0.23268	1.428000	0.47296	-0.216000	0.12614	GTG		0.741	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			C	21549893	G	C	21549893	3	2	46	1	0	0	0	0	1	0	0	0	5926	1145	40	5	2920	5	FLJ10357	14	21549893	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10		21549893	85799647	36	4513											
MYH7	4625	broad.mit.edu;mdanderson.org	37	chr14	23892897	23892897	+	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	gtcagcttggcaatgatctcAtccagcccagccatctcctc	8	10	7	16	0	3	1	2	1	2	0	7	1	4	1	4	1	3	2	4	1	1	1	rs140244068		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:23892897A>T	ENST00000355349.3	-	24	3120	c.2958T>A	c.(2956-2958)gaT>gaA	p.D986E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	986					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)		CAATGATCTCATCCAGCCCAG	0.552																																						.											0													152	144	147					14																	23892897		2203	4300	6503	SO:0001583	missense	4625			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.2958T>A	14.37:g.23892897A>T	ENSP00000347507:p.Asp986Glu		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571521	0.65765	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	5.06	-3.3	0.05003	.	.	.	.	.	T	0.82268	0.5000	N	0.20483	0.58	0.40115	D	0.976535	P	0.39282	0.666	P	0.45712	0.491	T	0.75010	-0.3468	9	0.42905	T	0.14	.	11.5747	0.50854	0.6067:0.0:0.3933:0.0	.	986	P12883	MYH7_HUMAN	E	986	ENSP00000347507:D986E	ENSP00000347507:D986E	D	-	3	2	MYH7	22962737	0.743000	0.28239	0.990000	0.47175	0.962000	0.63368	0.029000	0.13666	-0.447000	0.07138	-0.290000	0.09829	GAT		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23892897	A	T	23892897	3	4	46	1	0	0	0	0	1	0	0	0	10039	214	8	5	2917	5	MYH7	14	23892897	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	2343004	23892897	83456643	37	4514											
SOS2	6655	mdanderson.org;bcgsc.ca	37	chr14	50626363	50626363	+	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	tctaacattcgatctagagtActacgataatgaagagaaat	17	11	7	6	2	2	3	0	1	2	2	3	6	2	3	0	0	3	1	0	0	7	6			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:50626363A>T	ENST00000216373.5	-	10	1912	c.1638T>A	c.(1636-1638)agT>agA	p.S546R	SOS2_ENST00000543680.1_Missense_Mutation_p.S513R|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	546	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GATCTAGAGTACTACGATAAT	0.343																																						.											0													106	110	109					14																	50626363		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1638T>A	14.37:g.50626363A>T	ENSP00000216373:p.Ser546Arg		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621350	0.46736	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.88124	-2.34;-2.34	5.24	1.63	0.23807	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.122555	0.85682	D	0.000000	D	0.87951	0.6307	M	0.81942	2.565	0.54753	D	0.999985	P;P;D	0.58620	0.866;0.913;0.983	B;B;P	0.48030	0.391;0.342;0.564	D	0.85809	0.1378	10	0.56958	D	0.05	.	9.9675	0.41734	0.5506:0.0:0.4494:0.0	.	513;576;546	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	R	546;513	ENSP00000216373:S546R;ENSP00000445328:S513R	ENSP00000216373:S546R	S	-	3	2	SOS2	49696113	0.972000	0.33761	1.000000	0.80357	0.991000	0.79684	0.220000	0.17660	0.099000	0.17552	0.477000	0.44152	AGT		0.343	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			T	50626363	A	T	50626363	3	4	46	1	0	0	0	0	1	0	0	0	14937	388	14	5	2416	5	SOS2	14	50626363	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	26733466	50626363	56723177	38	4515											
SOS2	6655	broad.mit.edu;mdanderson.org	37	chr14	50626456	50626456	+	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	atgctgttctcatctttggaTactaattcaaatgcatgctt	10	17	6	8	0	3	0	2	0	2	0	4	1	3	1	0	1	4	4	0	1	3	6			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:50626456T>A	ENST00000216373.5	-	10	1819	c.1545A>T	c.(1543-1545)gtA>gtT	p.V515V	SOS2_ENST00000543680.1_Silent_p.V482V|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	515	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CATCTTTGGATACTAATTCAA	0.343																																						.											0													86	88	87					14																	50626456		2203	4300	6503	SO:0001819	synonymous_variant	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1545A>T	14.37:g.50626456T>A			B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	CCDS9697.1																																																																																				0.343	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			A	50626456	T	A	50626456	2	1	46	1	0	0	0	0	0	0	0	1	14937	1393	49	5		5	SOS2	14	50626456	Silent	SNP	T	TCGA-KN-8431-01A-11D-2310-10	93	50626456	56723084	39	4516											
C14orf73	91828	broad.mit.edu;ucsc.edu	37	chr14	103576543	103576543	+	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	tgcccagtgccatggctgtgCtgatcacctgcgtctagttc	5	12	11	13	1	2	1	1	1	1	0	3	1	2	1	3	1	4	3	3	1	1	2			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:103576543C>T	ENST00000380069.3	+	11	2228	c.2152C>T	c.(2152-2154)Ctg>Ttg	p.L718L		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	718					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CATGGCTGTGCTGATCACCTG	0.692																																						.											0													8	8	8					14																	103576543		2011	3950	5961	SO:0001819	synonymous_variant	91828			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.2152C>T	14.37:g.103576543C>T			Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																				0.692	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		T	103576543	C	T	103576543	2	4	46	1	0	0	0	0	0	0	0	1	1779	796	28	4		4	C14orf73	14	103576543	Silent	SNP	C	TCGA-KN-8431-01A-11D-2310-10	52950087	103576543	3772997	40	4517											
CHAC1	79094	broad.mit.edu	37	chr15	41247647	41247647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacctgaatgtgcgagAggcagtgcttggtggctacg	9	9	16	7	2	0	2	0	1	0	1	0	4	0	2	1	3	4	4	1	3	4	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr15:41247647A>G	ENST00000446533.3	+	3	779	c.470A>G	c.(469-471)gAg>gGg	p.E157G	CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Intron	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	157					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|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;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AATGTGCGAGAGGCAGTGCTT	0.577																																						.											0													219	167	185					15																	41247647		2203	4299	6502	SO:0001583	missense	79094			BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"gamma-GCT acting on glutathione homolog 1"	614587	"ChaC, cation transport regulator-like 1 (E. coli)"			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.470A>G	15.37:g.41247647A>G	ENSP00000398105:p.Glu157Gly		Q0VIA0	Missense_Mutation	SNP	ENST00000446533.3	37	CCDS10070.2	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589030	0.66105	.	.	ENSG00000128965	ENST00000446533	T	0.72942	-0.7	6.03	6.03	0.97812	Butirosin biosynthesis, BtrG-like (1);	0.046444	0.85682	D	0.000000	D	0.90383	0.6990	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93794	0.7095	10	0.87932	D	0	-30.8996	16.5655	0.84588	1.0:0.0:0.0:0.0	.	157	Q9BUX1	CHAC1_HUMAN	G	157	ENSP00000398105:E157G	ENSP00000398105:E157G	E	+	2	0	CHAC1	39034939	1.000000	0.71417	0.842000	0.33263	0.012000	0.07955	9.271000	0.95698	2.302000	0.77476	0.533000	0.62120	GAG		0.577	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		G	41247647	A	G	41247647	3	3	46	1	0	0	0	0	1	0	0	0	3308	304	11	2	480	2	CHAC1	15	41247647	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10		41247647	61283745	41	4518											
CDH11	1009	hgsc.bcm.edu	37	chr16	65006841	65006841	+	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	aagacagtgatgttgagccaGgctgtttcctctctatccag	9	12	10	10	0	1	3	0	2	1	1	4	3	3	3	3	1	1	3	3	1	2	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr16:65006841G>T	ENST00000268603.4	-	9	1971	c.1356C>A	c.(1354-1356)gcC>gcA	p.A452A	CDH11_ENST00000566827.1_Silent_p.A326A|CDH11_ENST00000394156.3_Silent_p.A452A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTTGAGCCAGGCTGTTTCCT	0.388			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												.		Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													132	133	132					16																	65006841		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1356C>A	16.37:g.65006841G>T			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																				0.388	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		T	65006841	G	T	65006841	2	4	46	1	0	0	0	0	0	0	0	1	3097	987	35	5		5	CDH11	16	65006841	Silent	SNP	G	TCGA-KN-8431-01A-11D-2310-10		65006841	25347912	42	4519											
ZFHX3	463	mdanderson.org	37	chr16	72991715	72991715	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgccgccgccgcagccAccgccgccgccgccgccccg	2	1	12	26	10	0	0	0	0	0	0	0	0	0	0	12	0	2	1	12	0	0	0	rs4788682	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr16:72991715A>G	ENST00000268489.5	-	2	3002	c.2330T>C	c.(2329-2331)gTg>gCg	p.V777A	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		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)				cgccgcagccaccgccgccgc	0.642													G|||	3834	0.765575	0.7474	0.8862	5008	,	,		9194	0.6855		0.8559	False		,,,				2504	0.6943					.											0								G	,ALA/VAL	3072,924		1241,590,167	11	18	16		,2330	4.5	0	16	dbSNP_111	16	6627,1175		2887,853,161	no	intron,missense	ZFHX3	NM_001164766.1,NM_006885.3	,64	4128,1443,328	GG,GA,AA		15.0602,23.1231,17.7912	,benign	,777/3704	72991715	9699,2099	1998	3901	5899	SO:0001583	missense	463			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.2330T>C	16.37:g.72991715A>G	ENSP00000268489:p.Val777Ala		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	1678	0.7683150183150184	361	0.733739837398374	312	0.861878453038674	376	0.6573426573426573	629	0.8298153034300791	G	1.367	-0.587199	0.03827	0.768769	0.849398	ENSG00000140836	ENST00000268489	T	0.72615	-0.67	5.49	4.54	0.55810	.	0.000000	0.36555	N	0.002526	T	0.00012	0.0000	N	0.08118	0	0.09310	P	1.0	B	0.09022	0.002	B	0.01281	0.0	T	0.36553	-0.9743	9	0.10902	T	0.67	.	12.3576	0.55184	0.1365:0.0:0.8635:0.0	rs4788682;rs57247863	777	Q15911	ZFHX3_HUMAN	A	777	ENSP00000268489:V777A	ENSP00000268489:V777A	V	-	2	0	ZFHX3	71549216	1.000000	0.71417	0.004000	0.12327	0.024000	0.10985	5.328000	0.65887	0.709000	0.31976	-0.215000	0.12644	GTG		0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		G	72991715	A	G	72991715	3	3	46	1	0	0	0	0	1	0	0	0	17631	159	6	2	8817	2	ZFHX3	16	72991715	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	7984874	72991715	17363038	43	4520											
ACSF3	197322	broad.mit.edu;bcgsc.ca	37	chr16	89167160	89167160	+	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	gtcctgccggctggcgcctgCgagacacagaggaagtggtc	7	6	16	12	3	0	2	0	0	0	2	2	4	1	3	3	4	2	1	3	4	1	0			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr16:89167160C>T	ENST00000317447.4	+	3	448	c.71C>T	c.(70-72)gCg>gTg	p.A24V	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.A24V	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	24					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTGGCGCCTGCGAGACACAGA	0.677																																						.											0													18	21	20					16																	89167160		2187	4275	6462	SO:0001583	missense	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.71C>T	16.37:g.89167160C>T	ENSP00000320646:p.Ala24Val		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	C	8.492	0.862167	0.17178	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.55588	0.94;0.51;0.94	5.02	-2.79	0.05841	.	8.160970	0.00166	N	0.000000	T	0.21267	0.0512	N	0.02539	-0.55	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.27571	-1.0070	10	0.06236	T	0.91	0.3531	3.8312	0.08874	0.1036:0.3059:0.4224:0.1682	.	24	Q4G176	ACSF3_HUMAN	V	24	ENSP00000320646:A24V;ENSP00000440734:A24V;ENSP00000384627:A24V	ENSP00000320646:A24V	A	+	2	0	ACSF3	87694661	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.995000	0.03712	-0.559000	0.06110	-1.027000	0.02421	GCG		0.677	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		T	89167160	C	T	89167160	3	4	46	1	0	0	0	0	1	0	0	0	176	768	27	1	73	1	ACSF3	16	89167160	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	16175445	89167160	1187593	44	4521											
AMAC1L3	643664	mdanderson.org	37	chr17	7386090	7386091	+	Missense_Mutation	DNP	GC	GC	AA																															tgggggcagtggggatcctcGccttggtctccttcacatgt																								rs7209977|rs541352076	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:7386090_7386091GC>AA	ENST00000412468.2	+	2	902_903	c.787_788GC>AA	c.(787-789)GCc>AAc	p.A263N	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	263			A -> T (in dbSNP:rs7209977).			integral component of membrane (GO:0016021)											GGGGATCCTCGCCTTGGTCTCC	0.634																																						.											0																																										SO:0001583	missense	643664				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		Exception_encountered	17.37:g.7386090_7386091delinsAA	ENSP00000396523:p.Ala263Asn			Missense_Mutation	DNP	ENST00000412468.2	37	CCDS45603.1																																																																																				0.634	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		AA	7386091	GC	AA	7386090	3	1	46	1	0	0	0	0	1	0	0	0	561	1087	38	1	793	1	AMAC1L3	17	7386090	Missense_Mutation	DNP	GC	TCGA-KN-8431-01A-11D-2310-10		7386090	73809120	45	4522			2	35		2	2	25	N	GC_A	4.57402e-05
AMAC1L3	643664	mdanderson.org	37	chr17	7386114	7386114	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctccttcacatgtgtgAgctatgcggtcaccaaggcc	7	11	11	12	1	3	1	2	1	1	0	4	1	3	1	3	3	2	1	3	3	2	2	rs199996601	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:7386114A>G	ENST00000412468.2	+	2	926	c.811A>G	c.(811-813)Agc>Ggc	p.S271G	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	271						integral component of membrane (GO:0016021)											CACATGTGTGAGCTATGCGGT	0.592																																						.											0													137	112	120					17																	7386114		2203	4300	6503	SO:0001583	missense	643664				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.811A>G	17.37:g.7386114A>G	ENSP00000396523:p.Ser271Gly			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	A	0.943	-0.708930	0.03230	.	.	ENSG00000181222	ENST00000412468	T	0.52295	0.67	4.06	2.97	0.34412	.	.	.	.	.	T	0.34279	0.0892	L	0.44542	1.39	0.25098	N	0.99081	B	0.02656	0.0	B	0.04013	0.001	T	0.23940	-1.0174	9	0.22706	T	0.39	-2.9278	4.559	0.12151	0.7349:0.0:0.0961:0.1691	.	271	P0C7Q6	S35G6_HUMAN	G	271	ENSP00000396523:S271G	ENSP00000396523:S271G	S	+	1	0	SLC35G6	7326838	0.924000	0.31332	0.993000	0.49108	0.007000	0.05969	0.595000	0.24029	0.560000	0.29169	-0.516000	0.04426	AGC		0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		G	7386114	A	G	7386114	3	3	46	1	0	0	0	0	1	0	0	0	561	304	11	2	817	2	AMAC1L3	17	7386114	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	24	7386114	73809096	46	4523			2	35		2	2	25	N	GC_A	4.57402e-05
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	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	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs397516436		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	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;	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578212	G	A	7578212	4	1	46	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	192098	7578212	73616998	47	4524											
RAI1	10743	ucsc.edu	37	chr17	17712752	17712752	+	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	tttgaaatgtcccaaacataAggtaggggaccacagtgttt	13	11	10	7	0	0	1	0	1	0	0	1	2	1	2	2	3	1	2	2	3	4	4			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:17712752A>G	ENST00000353383.1	+	5	6177	c.5708A>G	c.(5707-5709)aAg>aGg	p.K1903R	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1903					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)		CCCAAACATAAGGTAGGGGAC	0.567																																						.											0													114	126	122					17																	17712752		2203	4300	6503	SO:0001630	splice_region_variant	10743			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.5709+1A>G	17.37:g.17712752A>G			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338487	0.81911	.	.	ENSG00000108557	ENST00000353383	T	0.70282	-0.47	4.87	3.77	0.43336	Zinc finger, PHD-type (1);	.	.	.	.	T	0.74589	0.3736	L	0.31926	0.97	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.73072	-0.4098	9	0.45353	T	0.12	.	11.187	0.48662	0.8455:0.1545:0.0:0.0	.	1903	Q7Z5J4	RAI1_HUMAN	R	1903	ENSP00000323074:K1903R	ENSP00000323074:K1903R	K	+	2	0	RAI1	17653477	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.258000	0.78371	0.797000	0.33971	-0.438000	0.05819	AAG		0.567	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	Missense_Mutation	G	17712752	A	G	17712752	5	3	46	1	0	0	0	0	0	0	1	0	13007	86	3	2	5718	2	RAI1	17	17712752	Splice_Site	SNP	A	TCGA-KN-8431-01A-11D-2310-10	10134540	17712752	63482458	48	4525											
HNF1B	6928	broad.mit.edu;hgsc.bcm.edu	37	chr17	36099508	36099510	+	In_Frame_Del	DEL	TTG	TTG	-																															gggtcttcataggggtgcccTtgttgagatgctgggagagg																										TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:36099508_36099510delTTG	ENST00000225893.4	-	2	826_828	c.465_467delCAA	c.(463-468)aacaag>aag	p.N155del	HNF1B_ENST00000427275.2_In_Frame_Del_p.N155del|HNF1B_ENST00000560016.1_In_Frame_Del_p.N155del|HNF1B_ENST00000561193.1_In_Frame_Del_p.N155del	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	155					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)			AGGGGTGCCCTTGTTGAGATGCT	0.542																																					Colon(71;102 1179 9001 27917 43397)	.											0			GRCh37	CM060487	HNF1B	M																																				SO:0001651	inframe_deletion	6928			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.465_467delCAA	17.37:g.36099511_36099513delTTG	ENSP00000225893:p.Asn155del		B4DKM3|E0YMJ9	In_Frame_Del	DEL	ENST00000225893.4	37	CCDS11324.1																																																																																				0.542	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		-	36099510	TTG	-	36099508	7	5	46	1	0	1	0	1	0	0	0	0	7252	1609	56	0	1238	0	HNF1B	17	36099508	In_Frame_Del	DEL	TTG	TCGA-KN-8431-01A-11D-2310-10	18386756	36099508	45095702	49	4526	111	2									
HNF1B	6928	bcgsc.ca	37	chr17	36099509	36099511	+	In_Frame_Del	DEL	TTG	TTG	-																															ggtcttcataggggtgccctTgttgagatgctgggagaggt																										TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:36099509_36099511delTTG	ENST00000225893.4	-	2	825_827	c.464_466delCAA	c.(463-468)acaaag>aag	p.T155del	HNF1B_ENST00000427275.2_In_Frame_Del_p.T155del|HNF1B_ENST00000560016.1_In_Frame_Del_p.T155del|HNF1B_ENST00000561193.1_In_Frame_Del_p.T155del	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	155					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)			GGGGTGCCCTTGTTGAGATGCTG	0.547																																					Colon(71;102 1179 9001 27917 43397)	.											0			GRCh37	CM060487	HNF1B	M																																				SO:0001651	inframe_deletion	6928			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.464_466delCAA	17.37:g.36099509_36099511delTTG	ENSP00000225893:p.Thr155del		B4DKM3|E0YMJ9	In_Frame_Del	DEL	ENST00000225893.4	37	CCDS11324.1																																																																																				0.547	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		-	36099511	TTG	-	36099509	7	5	46	1	0	1	0	1	0	0	0	0	7252	1821	63	0	1239	0	HNF1B	17	36099509	In_Frame_Del	DEL	TTG	TCGA-KN-8431-01A-11D-2310-10	1	36099509	45095701	50	4527	111	2									
UBTF	7343	broad.mit.edu	37	chr17	42289365	42289365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttctggatatagtctcTcatgatctcctgcagagcca	8	13	9	11	0	4	2	1	1	3	1	6	3	4	3	2	1	3	2	2	1	2	3			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:42289365T>C	ENST00000302904.4	-	9	1273	c.781A>G	c.(781-783)Aga>Gga	p.R261G	UBTF_ENST00000343638.5_Missense_Mutation_p.R224G|UBTF_ENST00000436088.1_Missense_Mutation_p.R261G|UBTF_ENST00000529383.1_Missense_Mutation_p.R261G|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.R224G|UBTF_ENST00000533177.1_Missense_Mutation_p.R224G|UBTF_ENST00000393606.3_Missense_Mutation_p.R224G|UBTF_ENST00000526094.1_Missense_Mutation_p.R224G			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	261					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATATAGTCTCTCATGATCTCC	0.607																																						.											0													138	126	130					17																	42289365		2203	4300	6503	SO:0001583	missense	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.781A>G	17.37:g.42289365T>C	ENSP00000302640:p.Arg261Gly		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	t	15.35	2.808102	0.50421	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	D;D;D;D;D;D;D;D	0.98419	-4.88;-4.71;-4.92;-4.88;-4.71;-4.88;-4.88;-4.71	4.58	2.19	0.27852	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.061420	0.64402	N	0.000008	D	0.98204	0.9406	M	0.61703	1.905	0.49213	D	0.999767	D;P;D	0.76494	0.999;0.856;0.999	D;P;D	0.87578	0.997;0.771;0.998	D	0.96981	0.9715	10	0.25751	T	0.34	-8.2683	12.7655	0.57388	0.0:0.0:0.5518:0.4481	.	224;224;261	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	G	224;261;224;224;261;224;224;261	ENSP00000345297:R224G;ENSP00000302640:R261G;ENSP00000431539:R224G;ENSP00000437180:R224G;ENSP00000390669:R261G;ENSP00000377231:R224G;ENSP00000432925:R224G;ENSP00000435708:R261G	ENSP00000302640:R261G	R	-	1	2	UBTF	39644891	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	3.366000	0.52343	1.032000	0.39892	0.254000	0.18369	AGA		0.607	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		C	42289365	T	C	42289365	3	2	46	1	0	0	0	0	1	0	0	0	16906	1559	54	2	1565	2	UBTF	17	42289365	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10	6189856	42289365	38905845	51	4528											
ZACN	353174	ucsc.edu	37	chr17	74075997	74075997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacactcgcctggcctggaAcactagtgcacacccgcggc	8	5	12	16	3	0	0	0	0	0	0	1	2	0	2	3	4	2	1	3	4	2	1			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:74075997A>G	ENST00000334586.5	+	4	379	c.296A>G	c.(295-297)aAc>aGc	p.N99S	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	99					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGGCCTGGAACACTAGTGCA	0.612																																						.											0													47	43	45					17																	74075997		2202	4299	6501	SO:0001583	missense	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.296A>G	17.37:g.74075997A>G	ENSP00000334854:p.Asn99Ser		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580793	0.46006	.	.	ENSG00000186919	ENST00000334586	T	0.80738	-1.41	3.79	3.79	0.43588	Neurotransmitter-gated ion-channel ligand-binding (3);	0.314541	0.28538	N	0.014981	T	0.79885	0.4523	M	0.65975	2.015	0.51233	D	0.999919	P	0.43826	0.818	P	0.44647	0.456	T	0.81167	-0.1056	10	0.59425	D	0.04	-24.5066	10.1512	0.42794	1.0:0.0:0.0:0.0	.	99	Q401N2	ZACN_HUMAN	S	99	ENSP00000334854:N99S	ENSP00000334854:N99S	N	+	2	0	ZACN	71587592	0.972000	0.33761	0.755000	0.31263	0.354000	0.29330	2.868000	0.48436	1.587000	0.49959	0.533000	0.62120	AAC		0.612	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		G	74075997	A	G	74075997	3	3	46	1	0	0	0	0	1	0	0	0	17507	43	2	2	310	2	ZACN	17	74075997	Missense_Mutation	SNP	A	TCGA-KN-8431-01A-11D-2310-10	31786632	74075997	7119213	52	4529											
AZI1	22994	broad.mit.edu	37	chr17	79164828	79164828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctcctgaagcttccgcTccgactgctccagctcggag	6	8	10	17	4	0	1	0	1	0	0	5	3	4	2	5	1	3	5	5	1	1	1			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:79164828T>C	ENST00000269392.4	-	23	3078	c.2831A>G	c.(2830-2832)gAg>gGg	p.E944G	AZI1_ENST00000374782.3_Missense_Mutation_p.E905G|AZI1_ENST00000450824.2_Missense_Mutation_p.E941G|AZI1_ENST00000575907.1_Missense_Mutation_p.E908G	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		944					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)			AAGCTTCCGCTCCGACTGCTC	0.662																																						.											0													43	51	48					17																	79164828		2203	4299	6502	SO:0001583	missense	22994																														ENST00000269392.4:c.2831A>G	17.37:g.79164828T>C	ENSP00000269392:p.Glu944Gly		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	T	24.2	4.503710	0.85176	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.20881	2.04;2.06;2.05	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.66939	2.045	0.58432	D	0.999993	D;D;D;D	0.89917	0.999;0.993;1.0;1.0	D;P;D;D	0.76575	0.928;0.888;0.988;0.988	T	0.43718	-0.9374	10	0.72032	D	0.01	-26.681	13.9375	0.64034	0.0:0.0:0.0:1.0	.	941;944;905;941	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	G	941;905;944	ENSP00000393583:E941G;ENSP00000363914:E905G;ENSP00000269392:E944G	ENSP00000269392:E944G	E	-	2	0	AZI1	76779423	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	4.810000	0.62598	1.900000	0.55004	0.482000	0.46254	GAG		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			C	79164828	T	C	79164828	3	2	46	1	0	0	0	0	1	0	0	0	1240	1551	54	2	436	2	AZI1	17	79164828	Missense_Mutation	SNP	T	TCGA-KN-8431-01A-11D-2310-10	5088831	79164828	2030382	53	4530											
INSL3	3640	mdanderson.org	37	chr19	17932289	17932289	+	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	gcagggcccagcagcaccagCgcccaggcgggcagacgggg	8	0	18	15	3	0	1	0	0	0	1	0	1	0	1	3	5	3	4	3	5	0	0	rs2286663	byFrequency	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:17932289C>T	ENST00000317306.7	-	1	43	c.27G>A	c.(25-27)gcG>gcA	p.A9A	INSL3_ENST00000379695.5_Silent_p.A9A	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	9					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						GCAGCACCAGCGCCCAGGCGG	0.726													C|||	615	0.122804	0.112	0.1513	5008	,	,		13113	0.2024		0.0547	False		,,,				2504	0.1053					.											0								C		234,3118		10,214,1452	4	7	6		27	-4.7	0.1	19	dbSNP_100	6	233,6007		3,227,2890	no	coding-synonymous	INSL3	NM_005543.2		13,441,4342	TT,TC,CC		3.734,6.9809,4.8686		9/132	17932289	467,9125	1676	3120	4796	SO:0001819	synonymous_variant	3640				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.27G>A	19.37:g.17932289C>T			B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Silent	SNP	ENST00000317306.7	37	CCDS12365.1																																																																																				0.726	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		T	17932289	C	T	17932289	2	4	46	1	0	0	0	0	0	0	0	1	7767	755	27	1		1	INSL3	19	17932289	Silent	SNP	C	TCGA-KN-8431-01A-11D-2310-10		17932289	41196694	54	4531											
DLL3	10683	broad.mit.edu	37	chr19	39994863	39994863	+	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	gcccgtcctctgctaccaccGgatgccttgtccctgggcct	3	10	10	18	2	1	0	0	0	1	0	3	1	3	1	7	2	3	1	7	2	1	2	rs139297205		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:39994863G>A	ENST00000205143.4	+	5	812	c.805G>A	c.(805-807)Gga>Aga	p.G269R	DLL3_ENST00000356433.5_Missense_Mutation_p.G269R	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	269					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	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)			TGCTACCACCGGATGCCTTGT	0.642																																						.											0			GRCh37	CM065111	DLL3	M	rs139297205	G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	77	69	71		805,805	-0.6	0.2	19	dbSNP_134	71	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	DLL3	NM_016941.3,NM_203486.2	125,125	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign,benign	269/619,269/588	39994863	6,13000	2203	4300	6503	SO:0001583	missense	10683			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.805G>A	19.37:g.39994863G>A	ENSP00000205143:p.Gly269Arg		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	4.072	0.011286	0.07912	2.27E-4	5.81E-4	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.89617	-2.49;-2.54	5.4	-0.643	0.11482	.	0.427722	0.19935	N	0.102780	T	0.64627	0.2615	N	0.02158	-0.66	0.18873	N	0.999982	B;B;B	0.11235	0.004;0.002;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.56817	-0.7916	9	.	.	.	.	4.0338	0.09721	0.2132:0.1101:0.5644:0.1123	.	269;269;269	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	R	269	ENSP00000348810:G269R;ENSP00000205143:G269R	.	G	+	1	0	DLL3	44686703	0.991000	0.36638	0.191000	0.23289	0.009000	0.06853	2.220000	0.42908	0.369000	0.24510	-1.020000	0.02445	GGA		0.642	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			A	39994863	G	A	39994863	3	1	46	1	0	0	0	0	1	0	0	0	4567	1117	39	1	823	1	DLL3	19	39994863	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10	22062574	39994863	19134120	55	4532											
DYRK1B	9149	broad.mit.edu	37	chr19	40321175	40321176	+	Frame_Shift_Ins	INS	-	-	C																															ctggggtggcgcctgctgggINScccgccgcttcttcttcgca																										TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:40321175_40321176insC	ENST00000593685.1	-	4	679_680	c.211_212insG	c.(211-213)gccfs	p.A71fs	DYRK1B_ENST00000323039.5_Frame_Shift_Ins_p.A71fs|DYRK1B_ENST00000430012.2_Frame_Shift_Ins_p.A71fs|DYRK1B_ENST00000348817.3_Frame_Shift_Ins_p.A71fs|DYRK1B_ENST00000601972.1_Frame_Shift_Ins_p.A71fs|DYRK1B_ENST00000597639.1_Frame_Shift_Ins_p.A71fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	71					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)			CGCCTGCTGGGCCCGCCGCTTC	0.584																																						.											0																																										SO:0001589	frameshift_variant	9149			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.212dupG	19.37:g.40321178_40321178dupC	ENSP00000469863:p.Ala71fs		O75258|O75788|O75789	Frame_Shift_Ins	INS	ENST00000593685.1	37	CCDS12543.1																																																																																				0.584	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		C	40321176	-	C	40321175	7	5	46	1	0	1	1	0	0	0	0	0	4855	1203	42	0	1709	0	DYRK1B	19	40321175	Frame_Shift_Ins	INS	-	TCGA-KN-8431-01A-11D-2310-10	326312	40321175	18807808	56	4533											
ZNF180	7733	broad.mit.edu	37	chr19	44980907	44980907	+	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	ggcttttctccagtatgagtTctctgatgtacaacaagaac	11	13	8	9	0	2	3	0	2	2	1	4	3	2	3	1	1	3	4	1	1	5	5			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:44980907T>C	ENST00000221327.4	-	5	2072	c.1791A>G	c.(1789-1791)agA>agG	p.R597R	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Silent_p.R572R|ZNF180_ENST00000592529.1_Silent_p.R570R|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CAGTATGAGTTCTCTGATGTA	0.418																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	.											0													107	109	108					19																	44980907		2203	4300	6503	SO:0001819	synonymous_variant	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1791A>G	19.37:g.44980907T>C			B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	CCDS12639.1																																																																																				0.418	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		C	44980907	T	C	44980907	2	2	46	1	0	0	0	0	0	0	0	1	17745	1780	62	4		4	ZNF180	19	44980907	Silent	SNP	T	TCGA-KN-8431-01A-11D-2310-10	4659732	44980907	14148076	57	4534											
SRC	6714	broad.mit.edu;bcgsc.ca	37	chr20	36022638	36022638	+	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	tactgctcaatgcagagaacCcgagagggaccttcctcgtg	10	8	11	12	2	1	2	1	0	0	2	3	5	2	3	3	1	4	2	3	1	3	2			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr20:36022638C>T	ENST00000373578.2	+	7	860	c.511C>T	c.(511-513)Ccg>Tcg	p.P171S	SRC_ENST00000358208.4_Missense_Mutation_p.P171S|SRC_ENST00000360723.4_Missense_Mutation_p.P177S|SRC_ENST00000373558.2_Missense_Mutation_p.P177S|SRC_ENST00000445403.1_Missense_Mutation_p.P171S|SRC_ENST00000373567.2_Missense_Mutation_p.P171S	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	171	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TGCAGAGAACCCGAGAGGGAC	0.567																																						.											0													103	100	101					20																	36022638		2203	4300	6503	SO:0001583	missense	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.511C>T	20.37:g.36022638C>T	ENSP00000362680:p.Pro171Ser		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.760002	0.31137	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.88	4.88	0.63580	SH2 motif (4);	0.110608	0.64402	D	0.000014	D	0.85427	0.5694	L	0.45352	1.415	0.44469	D	0.997404	P	0.41080	0.737	B	0.41135	0.348	D	0.83441	0.0043	10	0.23302	T	0.38	.	15.5649	0.76284	0.0:1.0:0.0:0.0	.	171	P12931	SRC_HUMAN	S	171;171;177;171;171;177	ENSP00000408503:P171S;ENSP00000362680:P171S;ENSP00000353950:P177S;ENSP00000350941:P171S;ENSP00000362668:P171S;ENSP00000362659:P177S	ENSP00000350941:P171S	P	+	1	0	SRC	35456052	1.000000	0.71417	0.985000	0.45067	0.663000	0.39108	3.598000	0.54038	2.526000	0.85167	0.561000	0.74099	CCG		0.567	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		T	36022638	C	T	36022638	3	4	46	1	0	0	0	0	1	0	0	0	15133	623	22	3	525	3	SRC	20	36022638	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10		36022638	27002882	58	4535											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr21	41684190	41684190	+	Missense_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	catccttctgccaggtgatcGtgatgggtaagtcccctgag	7	11	12	11	1	1	3	0	3	1	0	4	3	3	3	4	2	1	1	4	2	1	2	rs565609019		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr21:41684190G>A	ENST00000400454.1	-	9	2357	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	627	Ig-like C2-type 7.				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)				CCAGGTGATCGTGATGGGTAA	0.532													G|||	1	0.000199681	0	0	5008	,	,		15104	0		0	False		,,,				2504	0.001				Melanoma(134;970 1778 1785 21664 32388)	.											0													64	62	63					21																	41684190		1907	4135	6042	SO:0001583	missense	1826			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.1880C>T	21.37:g.41684190G>A	ENSP00000383303:p.Thr627Met		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921590	0.52653	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68479	-0.33;-0.33	5.55	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.259938	0.38959	N	0.001504	T	0.74779	0.3761	M	0.72118	2.19	0.30527	N	0.767845	D	0.56287	0.975	P	0.52758	0.708	T	0.75795	-0.3192	10	0.37606	T	0.19	.	16.2728	0.82629	0.0:0.1328:0.8672:0.0	.	627	O60469	DSCAM_HUMAN	M	627;379	ENSP00000383303:T627M;ENSP00000385342:T379M	ENSP00000383303:T627M	T	-	2	0	DSCAM	40606060	0.969000	0.33509	0.960000	0.40013	0.808000	0.45660	1.706000	0.37878	1.284000	0.44531	0.563000	0.77884	ACG		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41684190	G	A	41684190	3	1	46	1	0	0	0	0	1	0	0	0	4768	1145	40	1	4258	1	DSCAM	21	41684190	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10		41684190	6445705	59	4536											
HMGXB4	10042	broad.mit.edu	37	chr22	35661575	35661576	+	Frame_Shift_Del	DEL	AG	AG	-																															aaaaaagaagagaaggacaaAgagagagagagaggagaaaa																										TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr22:35661575_35661576delAG	ENST00000216106.5	+	5	1322_1323	c.1194_1195delAG	c.(1192-1197)aaagagfs	p.E399fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E290fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	399					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						agaaggacaaagagagagagag	0.465																																						.											0																																										SO:0001589	frameshift_variant	10042			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.1194_1195delAG	22.37:g.35661585_35661586delAG	ENSP00000216106:p.Glu399fs		O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	CCDS33641.1																																																																																				0.465	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		-	35661576	AG	-	35661575	7	5	46	1	0	1	0	1	0	0	0	0	7239	69	3	0	1208	0	HMGXB4	22	35661575	Frame_Shift_Del	DEL	AG	TCGA-KN-8431-01A-11D-2310-10		35661575	15642991	60	4537											
FAM47C	442444	mdanderson.org	37	chrX	37028209	37028209	+	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	gtctccgcccggagcctcccGatactggagtgtcccatctc	5	9	10	17	3	2	0	0	0	2	0	6	3	4	2	5	2	2	0	5	2	1	1			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chrX:37028209G>A	ENST00000358047.3	+	1	1778	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	576								p.D576N(2)		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						GGAGCCTCCCGATACTGGAGT	0.647													-|||	4	0.0010596	0.003	0	3775	,	,		11352	0		0	False		,,,				2504	0					.											2	Substitution - Missense(2)	skin(2)											53	60	57					X																	37028209		2202	4300	6502	SO:0001583	missense	442444			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.1726G>A	X.37:g.37028209G>A	ENSP00000367913:p.Asp576Asn		Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	13.20	2.164778	0.38217	.	.	ENSG00000198173	ENST00000358047	T	0.13778	2.56	1.68	-1.72	0.08107	.	.	.	.	.	T	0.02970	0.0088	N	0.04508	-0.205	0.09310	N	1	P	0.40197	0.706	B	0.21917	0.037	T	0.34453	-0.9828	9	0.21014	T	0.42	.	0.8287	0.01126	0.1821:0.2196:0.3774:0.2209	.	576	Q5HY64	FA47C_HUMAN	N	576	ENSP00000367913:D576N	ENSP00000367913:D576N	D	+	1	0	FAM47C	36938130	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.469000	0.02348	-0.773000	0.04596	0.400000	0.26472	GAT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028209	G	A	37028209	3	1	46	1	0	0	0	0	1	0	0	0	5571	1058	37	1	1728	1	FAM47C	23	37028209	Missense_Mutation	SNP	G	TCGA-KN-8431-01A-11D-2310-10		37028209	118242351	61	4538											
WAS	7454	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	48545247	48545247	+	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	acatcacgagttcacgatacCgtgggctcccagcacctgga	10	7	10	14	3	2	0	2	0	0	0	3	3	3	1	3	2	2	3	3	2	1	2			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chrX:48545247C>T	ENST00000376701.4	+	7	712	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	213					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TTCACGATACCGTGGGCTCCC	0.567			"Mis, N, F, S"			lymphoma																																.		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	0													89	70	76					X																	48545247		2203	4300	6503	SO:0001583	missense	7454			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.637C>T	X.37:g.48545247C>T	ENSP00000365891:p.Arg213Cys		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652001	0.67472	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.99741	-6.49;-6.6	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	L	0.52011	1.625	0.58432	D	0.999991	D	0.89917	1.0	D	0.74023	0.982	D	0.98302	1.0519	10	0.72032	D	0.01	-7.2719	13.6191	0.62126	0.0:1.0:0.0:0.0	.	213	P42768	WASP_HUMAN	C	213	ENSP00000410537:R213C;ENSP00000365891:R213C	ENSP00000365891:R213C	R	+	1	0	WAS	48430191	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.209000	0.65208	1.777000	0.52277	0.279000	0.19357	CGT		0.567	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		T	48545247	C	T	48545247	3	4	46	1	0	0	0	0	1	0	0	0	17248	652	23	1	663	1	WAS	23	48545247	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	11517038	48545247	106725313	62	4539											
ZDHHC9	51114	bcgsc.ca	37	chrX	128945410	128945410	+	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	caaggggccacacagcacttCacagcagttcttcacaatat	13	8	7	13	0	3	0	2	0	1	0	3	0	3	0	1	2	2	3	1	2	3	4			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chrX:128945410C>T	ENST00000357166.6	-	9	1244	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.E285K	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	285					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CACAGCACTTCACAGCAGTTC	0.517																																						.											0													123	88	100					X																	128945410		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.853G>A	X.37:g.128945410C>T	ENSP00000349689:p.Glu285Lys		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803195	0.70682	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.41400	1.0;1.0	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.38175	1.15	0.80722	D	1	B	0.19706	0.038	B	0.20955	0.032	T	0.09292	-1.0681	10	0.33940	T	0.23	-9.4076	18.1866	0.89795	0.0:1.0:0.0:0.0	.	285	Q9Y397	ZDHC9_HUMAN	K	285	ENSP00000349689:E285K;ENSP00000360103:E285K	ENSP00000349689:E285K	E	-	1	0	ZDHHC9	128773091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.666000	0.68059	2.419000	0.82065	0.594000	0.82650	GAA		0.517	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		T	128945410	C	T	128945410	3	4	46	1	0	0	0	0	1	0	0	0	17619	835	29	4	253	4	ZDHHC9	23	128945410	Missense_Mutation	SNP	C	TCGA-KN-8431-01A-11D-2310-10	80400163	128945410	26325150	63	4540											
TMEM51	55092	broad.mit.edu	37	chr1	15545898	15545898	+	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	acgaggaagtgatgaacacaAactactcagaagcaagggga	18	4	12	7	1	1	3	1	2	0	1	1	6	1	5	0	3	4	1	0	3	6	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:15545898A>T	ENST00000428417.1	+	3	867	c.421A>T	c.(421-423)Aac>Tac	p.N141Y	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Missense_Mutation_p.N141Y|TMEM51_ENST00000400796.3_Missense_Mutation_p.N141Y|TMEM51_ENST00000376008.2_Missense_Mutation_p.N141Y	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	141						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GATGAACACAAACTACTCAGA	0.557																																						.											0													94	90	91					1																	15545898		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.421A>T	1.37:g.15545898A>T	ENSP00000394899:p.Asn141Tyr		A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	CCDS154.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965433	0.53507	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.63	2.01	0.26516	.	0.282098	0.44285	D	0.000471	T	0.29652	0.0740	L	0.44542	1.39	0.23366	N	0.997829	P	0.48016	0.904	P	0.47251	0.542	T	0.11179	-1.0598	10	0.72032	D	0.01	1.1303	8.5456	0.33419	0.5697:0.0:0.4303:0.0	.	141	Q9NW97	TMM51_HUMAN	Y	141	ENSP00000394899:N141Y;ENSP00000365182:N141Y;ENSP00000383600:N141Y;ENSP00000365176:N141Y	ENSP00000303666:N141Y	N	+	1	0	TMEM51	15418485	0.984000	0.35163	0.961000	0.40146	0.964000	0.63967	2.179000	0.42528	0.092000	0.17331	0.454000	0.30748	AAC		0.557	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		T	15545898	A	T	15545898	3	4	47	1	0	0	0	0	1	0	0	0	16174	14	1	5	427	5	TMEM51	1	15545898	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		15545898	233704723	1	4541											
IGSF21	84966	broad.mit.edu;mdanderson.org	37	chr1	18692186	18692186	+	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	gcccatgcaggcagaggtcaCgctgggtaagacttggtggg	8	7	17	9	1	1	2	1	0	0	2	1	2	1	2	1	5	1	4	1	5	1	2	rs374130273		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:18692186C>T	ENST00000251296.1	+	6	1393	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	337						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCAGAGGTCACGCTGGGTAAG	0.612													C|||	1	0.000199681	0	0	5008	,	,		19210	0		0.001	False		,,,				2504	0					.											0								C	MET/THR	1,4403	2.1+/-5.4	0,1,2201	46	38	41		1010	2.6	1	1		41	0,8600		0,0,4300	no	missense	IGSF21	NM_032880.4	81	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	337/468	18692186	1,13003	2202	4300	6502	SO:0001583	missense	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1010C>T	1.37:g.18692186C>T	ENSP00000251296:p.Thr337Met		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277902	0.59758	2.27E-4	0.0	ENSG00000117154	ENST00000251296	T	0.33654	1.4	4.53	2.6	0.31112	Immunoglobulin-like fold (1);	0.209202	0.49305	D	0.000158	T	0.38719	0.1051	L	0.27053	0.805	0.51767	D	0.999934	D	0.89917	1.0	D	0.63192	0.912	T	0.08722	-1.0708	10	0.35671	T	0.21	-18.4742	9.5314	0.39196	0.0:0.82:0.0:0.18	.	337	Q96ID5	IGS21_HUMAN	M	337	ENSP00000251296:T337M	ENSP00000251296:T337M	T	+	2	0	IGSF21	18564773	0.997000	0.39634	1.000000	0.80357	0.963000	0.63663	2.192000	0.42649	1.025000	0.39708	0.491000	0.48974	ACG		0.612	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		T	18692186	C	T	18692186	3	4	47	1	0	0	0	0	1	0	0	0	7599	536	19	1	1032	1	IGSF21	1	18692186	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	3146288	18692186	230558435	2	4542											
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	62380292	62380292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacataacaaggccaacaaaAtcaccggtaaccagaaccag	19	4	6	12	1	1	1	1	0	0	1	1	1	1	1	4	2	5	1	4	2	8	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:62380292A>G	ENST00000371158.2	+	26	3640	c.3526A>G	c.(3526-3528)Atc>Gtc	p.I1176V	INADL_ENST00000316485.6_Missense_Mutation_p.I1176V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1176					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						GGCCAACAAAATCACCGGTAA	0.358																																						.											0													92	98	96					1																	62380292		2203	4300	6503	SO:0001583	missense	10207			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.3526A>G	1.37:g.62380292A>G	ENSP00000360200:p.Ile1176Val		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	0.171	-1.071684	0.01918	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513	T;T	0.11604	2.89;2.76	4.69	-2.35	0.06684	.	0.883263	0.09789	N	0.755596	T	0.07503	0.0189	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.44667	-0.9313	10	0.15499	T	0.54	.	5.5168	0.16912	0.3216:0.3144:0.364:0.0	.	1176;1176;1176	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	1176	ENSP00000360200:I1176V;ENSP00000326199:I1176V	ENSP00000326199:I1176V	I	+	1	0	INADL	62152880	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.124000	0.15728	-0.165000	0.10908	-0.370000	0.07254	ATC		0.358	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62380292	A	G	62380292	3	3	47	1	0	0	0	0	1	0	0	0	7731	101	4	4	3624	4	INADL	1	62380292	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	43688106	62380292	186870329	3	4543											
LEPR	3953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	66102278	66102278	+	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	ttgaaggattctttctctaaTagctcatgggagatagaggc	11	13	11	6	0	3	3	1	1	2	2	4	5	3	4	0	3	1	1	0	3	4	6	rs34130975		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:66102278T>G	ENST00000349533.6	+	20	3263	c.3078T>G	c.(3076-3078)aaT>aaG	p.N1026K	LEPR_ENST00000406510.3_Missense_Mutation_p.N93K	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTTTCTCTAATAGCTCATGGG	0.398																																						.											0													76	84	81					1																	66102278		2200	4297	6497	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3078T>G	1.37:g.66102278T>G	ENSP00000330393:p.Asn1026Lys		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	4.357	0.065741	0.08388	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55760	0.5	5.4	-2.75	0.05914	.	0.793868	0.12345	N	0.477125	T	0.16514	0.0397	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27938	-1.0059	10	0.44086	T	0.13	-0.5985	7.554	0.27814	0.0:0.4301:0.2383:0.3316	.	1026	P48357	LEPR_HUMAN	K	1026;93	ENSP00000330393:N1026K	ENSP00000330393:N1026K	N	+	3	2	LEPR	65874866	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.591000	0.05753	-0.675000	0.05246	-1.133000	0.01973	AAT		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		G	66102278	T	G	66102278	3	3	47	1	0	0	0	0	1	0	0	0	8728	1403	49	5	3378	5	LEPR	1	66102278	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	3721986	66102278	183148343	4	4544											
HIPK1	204851	hgsc.bcm.edu;bcgsc.ca	37	chr1	114483037	114483037	+	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	gctgcaagtgttttcgccccCatcagtgtcgtcgagtgcct	5	12	11	13	3	1	0	1	0	0	0	4	1	1	0	3	0	2	3	3	0	1	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:114483037C>T	ENST00000369558.1	+	2	264	c.32C>T	c.(31-33)cCa>cTa	p.P11L	HIPK1_ENST00000369561.4_Missense_Mutation_p.P11L|HIPK1_ENST00000369559.4_Missense_Mutation_p.P11L|HIPK1_ENST00000426820.2_Missense_Mutation_p.P11L|HIPK1_ENST00000369554.2_Missense_Mutation_p.P11L|HIPK1_ENST00000369555.2_Missense_Mutation_p.P11L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	11					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTCGCCCCCATCAGTGTCG	0.433																																						.											0													146	158	154					1																	114483037		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.32C>T	1.37:g.114483037C>T	ENSP00000358571:p.Pro11Leu		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881132	0.33255	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.83;0.83;0.83;0.83;0.84;0.84;0.83	4.78	4.78	0.61160	.	0.090347	0.48286	D	0.000197	T	0.26882	0.0658	L	0.32530	0.975	0.80722	D	1	B;B	0.30281	0.18;0.275	B;B	0.27796	0.038;0.083	T	0.20273	-1.0280	10	0.56958	D	0.05	.	17.834	0.88691	0.0:1.0:0.0:0.0	.	11;11	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	L	82;11;11;11;11;11;11;11;11	ENSP00000407442:P82L;ENSP00000358572:P11L;ENSP00000409673:P11L;ENSP00000358567:P11L;ENSP00000358568:P11L;ENSP00000358571:P11L;ENSP00000358574:P11L;ENSP00000422322:P11L;ENSP00000426695:P11L	ENSP00000358567:P11L	P	+	2	0	HIPK1	114284560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.224000	0.42945	2.182000	0.69389	0.650000	0.86243	CCA		0.433	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		T	114483037	C	T	114483037	3	4	47	1	0	0	0	0	1	0	0	0	7116	594	21	4	34	4	HIPK1	1	114483037	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	48380759	114483037	134767584	5	4545											
ANP32E	81611	mdanderson.org	37	chr1	150199057	150199057	+	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	tcctcctcttcctcttcctcCtcctcttcctcatatccttc	2	18	0	21	0	4	0	1	0	3	0	13	0	12	0	8	0	0	0	8	0	1	5			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:150199057C>T	ENST00000314136.8	-	5	933	c.564G>A	c.(562-564)gaG>gaA	p.E188E	ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000436748.2_Silent_p.E147E|ANP32E_ENST00000369119.3_Silent_p.E140E|ANP32E_ENST00000369116.4_Silent_p.E56E|ANP32E_ENST00000533654.1_Missense_Mutation_p.R133K|ANP32E_ENST00000369115.2_Silent_p.E56E	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	188	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			cctcttcctcctcctcttcct	0.438																																						.											0													238	207	217					1																	150199057		2203	4300	6503	SO:0001819	synonymous_variant	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.564G>A	1.37:g.150199057C>T			B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Silent	SNP	ENST00000314136.8	37	CCDS946.1	.	.	.	.	.	.	.	.	.	.	C	2.195	-0.384257	0.04966	.	.	ENSG00000143401	ENST00000533654	T	0.00282	8.31	5.31	-2.29	0.06805	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.02385	-1.1167	8	0.28530	T	0.3	.	0.7934	0.01061	0.2726:0.2404:0.1094:0.3777	.	133	E9PLC4	.	K	133	ENSP00000435215:R133K	ENSP00000435215:R133K	R	-	2	0	ANP32E	148465681	0.560000	0.26570	0.552000	0.28243	0.061000	0.15899	-0.914000	0.04038	-0.093000	0.12396	0.561000	0.74099	AGG		0.438	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		T	150199057	C	T	150199057	2	4	47	1	0	0	0	0	0	0	0	1	709	680	24	4		4	ANP32E	1	150199057	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	35716020	150199057	99051564	6	4546											
FLAD1	80308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	154965424	154965424	+	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	ataccgtgcggaacccggccCtgaagtgcctgagcccagga	9	5	13	14	3	0	2	0	2	0	0	0	4	0	4	5	3	5	0	5	3	3	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:154965424C>G	ENST00000292180.3	+	7	1997	c.1675C>G	c.(1675-1677)Ctg>Gtg	p.L559V	FLAD1_ENST00000368432.1_3'UTR|FLAD1_ENST00000315144.10_Missense_Mutation_p.L462V|FLAD1_ENST00000368428.1_Missense_Mutation_p.L100V|LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000295530.2_3'UTR|FLAD1_ENST00000405236.2_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	559					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)			GAACCCGGCCCTGAAGTGCCT	0.607																																						.											0													74	64	67					1																	154965424		2203	4300	6503	SO:0001583	missense	80308				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.1675C>G	1.37:g.154965424C>G	ENSP00000292180:p.Leu559Val		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973492	0.34848	.	.	ENSG00000160688	ENST00000315144;ENST00000292180;ENST00000368428	.	.	.	5.2	2.23	0.28157	.	0.000000	0.64402	D	0.000001	T	0.76371	0.3978	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81189	-0.1046	9	0.87932	D	0	-12.7998	12.1264	0.53919	0.0:0.7294:0.0:0.2706	.	559	Q8NFF5	FAD1_HUMAN	V	462;559;100	.	ENSP00000292180:L559V	L	+	1	2	FLAD1	153232048	1.000000	0.71417	0.991000	0.47740	0.030000	0.12068	3.914000	0.56401	0.380000	0.24823	-1.203000	0.01651	CTG		0.607	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		G	154965424	C	G	154965424	3	3	47	1	0	0	0	0	1	0	0	0	5920	680	24	5	1845	5	FLAD1	1	154965424	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	4766367	154965424	94285197	7	4547											
ARHGEF2	9181	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	155932493	155932493	+	Missense_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	aggtcttacacatctgctccGcactaggacctgagaactag	11	9	9	12	1	2	1	0	1	2	1	3	3	3	2	2	2	3	2	2	2	4	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:155932493G>A	ENST00000361247.4	-	9	1091	c.992C>T	c.(991-993)gCg>gTg	p.A331V	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.A376V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A330V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.A303V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A303V|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.A332V|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	331	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATCTGCTCCGCACTAGGACC	0.537																																					Melanoma(178;35 2768 6610 28839)	.											0													70	68	68					1																	155932493		2203	4300	6503	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.992C>T	1.37:g.155932493G>A	ENSP00000354837:p.Ala331Val		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951615	0.73787	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.47852	D	0.000207	T	0.79131	0.4394	M	0.82056	2.57	0.53005	D	0.999967	D;D;P;D	0.76494	0.999;0.997;0.455;0.985	D;P;B;P	0.69142	0.962;0.875;0.151;0.71	T	0.81055	-0.1106	10	0.72032	D	0.01	-16.4095	16.3414	0.83083	0.0:0.0:1.0:0.0	.	376;375;331;330	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	V	303;331;332;303;376;304;330	ENSP00000315325:A303V;ENSP00000354837:A331V;ENSP00000357298:A332V;ENSP00000357299:A303V;ENSP00000314787:A330V	ENSP00000314787:A330V	A	-	2	0	ARHGEF2	154199117	1.000000	0.71417	0.342000	0.25602	0.665000	0.39181	4.965000	0.63708	2.803000	0.96430	0.609000	0.83330	GCG		0.537	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155932493	G	A	155932493	3	1	47	1	0	0	0	0	1	0	0	0	903	1087	38	1	2024	1	ARHGEF2	1	155932493	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	967069	155932493	93318128	8	4548											
MR1	3140	mdanderson.org;bcgsc.ca	37	chr1	181021437	181021437	+	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	tacagctctcttctgcaaagCtcatggcttttaccccccag	8	12	6	15	0	3	0	1	0	2	0	4	0	3	0	3	1	5	4	3	1	3	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:181021437C>A	ENST00000367580.5	+	4	676	c.671C>A	c.(670-672)gCt>gAt	p.A224D	MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.A179D|MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	224	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TTCTGCAAAGCTCATGGCTTT	0.428																																					Colon(174;1412 1962 45296 46549 47110)	.											0													55	55	55					1																	181021437		2203	4300	6503	SO:0001583	missense	3140			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.671C>A	1.37:g.181021437C>A	ENSP00000356552:p.Ala224Asp		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727807	0.69074	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.21734	1.99;1.99	4.52	3.57	0.40892	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.116516	0.38326	N	0.001730	T	0.56499	0.1989	H	0.96833	3.89	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.981	T	0.66512	-0.5905	10	0.87932	D	0	.	9.5573	0.39346	0.0:0.8917:0.0:0.1083	.	179;224	Q95460-2;Q95460	.;HMR1_HUMAN	D	224;179	ENSP00000356552:A224D;ENSP00000356551:A179D	ENSP00000356551:A179D	A	+	2	0	MR1	179288060	0.477000	0.25909	0.999000	0.59377	0.874000	0.50279	0.758000	0.26447	1.056000	0.40484	0.655000	0.94253	GCT		0.428	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		A	181021437	C	A	181021437	3	1	47	1	0	0	0	0	1	0	0	0	9752	797	28	5	685	5	MR1	1	181021437	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	25088944	181021437	68229184	9	4549											
RGL1	23179	broad.mit.edu	37	chr1	183885724	183885724	+	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	aagcgctctgtctcggtgacGtccattacctcgactgtgct	6	12	10	13	4	2	1	0	1	2	0	5	2	3	1	2	1	3	2	2	1	2	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:183885724G>A	ENST00000360851.3	+	16	2071	c.1893G>A	c.(1891-1893)acG>acA	p.T631T	RGL1_ENST00000536277.1_Silent_p.T629T|RGL1_ENST00000539189.1_Silent_p.T602T|RGL1_ENST00000304685.4_Silent_p.T666T			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	631					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						TCTCGGTGACGTCCATTACCT	0.498																																						.											0													197	180	186					1																	183885724		2203	4300	6503	SO:0001819	synonymous_variant	23179			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.1893G>A	1.37:g.183885724G>A			Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37																																																																																					0.498	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		A	183885724	G	A	183885724	2	1	47	1	0	0	0	0	0	0	0	1	13276	1132	40	1		1	RGL1	1	183885724	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	2864287	183885724	65364897	10	4550											
KIF21B	23046	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	200943959	200943959	+	Missense_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	tccagaccttgatgacacccGcacggcaggcgctgagcagc	9	5	12	15	3	0	4	0	3	0	1	1	4	1	4	3	2	2	4	3	2	0	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:200943959G>A	ENST00000422435.2	-	34	5013	c.4697C>T	c.(4696-4698)gCg>gTg	p.A1566V	KIF21B_ENST00000332129.2_Missense_Mutation_p.A1553V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A1566V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A1553V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1566					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						GATGACACCCGCACGGCAGGC	0.607																																						.											0													195	172	180					1																	200943959		2203	4300	6503	SO:0001583	missense	23046			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.4697C>T	1.37:g.200943959G>A	ENSP00000411831:p.Ala1566Val		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056322	0.55325	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.48	2.48	0.30137	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.211121	0.39146	N	0.001442	T	0.50905	0.1643	L	0.51422	1.61	0.29302	N	0.868603	P;P;P;P	0.49253	0.921;0.845;0.921;0.903	B;B;B;B	0.41135	0.348;0.348;0.348;0.236	T	0.56523	-0.7965	10	0.72032	D	0.01	.	13.2708	0.60159	0.0:0.6602:0.3398:0.0	.	1553;1566;1566;1553	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1553;1553;1566;1566;1566	ENSP00000328494:A1553V;ENSP00000353724:A1553V;ENSP00000433808:A1566V;ENSP00000411831:A1566V	ENSP00000328494:A1553V	A	-	2	0	KIF21B	199210582	0.999000	0.42202	0.024000	0.17045	0.930000	0.56654	3.649000	0.54417	0.840000	0.34995	0.561000	0.74099	GCG		0.607	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200943959	G	A	200943959	3	1	47	1	0	0	0	0	1	0	0	0	8289	1087	38	1	224	1	KIF21B	1	200943959	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	17058235	200943959	48306662	11	4551											
SUSD4	55061	hgsc.bcm.edu;ucsc.edu	37	chr1	223465989	223465989	+	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	gcacacacttgaaggtcatcGaaccctacatcaacaaagag	16	6	7	12	1	2	2	2	1	0	1	3	3	2	2	1	1	3	1	1	1	5	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:223465989G>A	ENST00000343846.3	-	2	786	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SUSD4_ENST00000366878.4_Silent_p.F51F|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.F51F|SUSD4_ENST00000494793.2_Silent_p.F51F|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	51						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)		GAAGGTCATCGAACCCTACAT	0.502																																						.											0													48	53	52					1																	223465989		2203	4300	6503	SO:0001819	synonymous_variant	55061			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.153C>T	1.37:g.223465989G>A			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	CCDS41471.1																																																																																				0.502	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		A	223465989	G	A	223465989	2	1	47	1	0	0	0	0	0	0	0	1	15407	1049	37	1		1	SUSD4	1	223465989	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	22522030	223465989	25784632	12	4552											
CAPN2	824	broad.mit.edu	37	chr1	223936794	223936794	+	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	1	0	0	0	0	0	0	0	0	tttcagaagctggtgaagggGcacgcgtactcggtcaccgg	8	8	15	10	4	2	2	2	1	0	1	3	2	2	2	1	5	2	3	1	5	3	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:223936794G>C	ENST00000295006.5	+	6	1092	c.783G>C	c.(781-783)ggG>ggC	p.G261G	CAPN2_ENST00000433674.2_Silent_p.G183G	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	261	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGGTGAAGGGGCACGCGTACT	0.647											OREG0014276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													62	55	57					1																	223936794		2203	4300	6503	SO:0001819	synonymous_variant	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.783G>C	1.37:g.223936794G>C		2293	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	CCDS31035.1																																																																																				0.647	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		C	223936794	G	C	223936794	2	2	47	1	0	0	0	0	0	0	0	1	2627	1190	42	5		5	CAPN2	1	223936794	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	470805	223936794	25313827	13	4553											
OBSCN	84033	broad.mit.edu	37	chr1	228432096	228432096	+	Frame_Shift_Del	DEL	A	A	-																															ctgtgaggtggcccaggcccAgacggaggtgacgtggtaca																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:228432096delA	ENST00000422127.1	+	11	3349	c.3305delA	c.(3304-3306)cagfs	p.Q1102fs	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.Q1102fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.Q1194fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1102	Ig-like 11.				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)				GCCCAGGCCCAGACGGAGGTG	0.597																																						.											0													85	82	83					1																	228432096		2033	4172	6205	SO:0001589	frameshift_variant	84033			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.3305delA	1.37:g.228432096delA	ENSP00000409493:p.Gln1102fs		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																																																																																				0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		-	228432096	A	-	228432096	7	5	47	1	0	1	0	1	0	0	0	0	10812	188	7	0	3343	0	OBSCN	1	228432096	Frame_Shift_Del	DEL	A	TCGA-KN-8432-01A-11D-2310-10	4495302	228432096	20818525	14	4554											
HNRNPU	3192	broad.mit.edu	37	chr1	245025801	245025803	+	In_Frame_Del	DEL	TCT	TCT	-																															ctgtgtcatcgaagtgttcaTcttcttcttcaacaggtggc																								rs538951206		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:245025801_245025803delTCT	ENST00000283179.9	-	3	1000_1002	c.837_839delAGA	c.(835-840)gaagat>gat	p.E279del	HNRNPU_ENST00000444376.2_In_Frame_Del_p.E260del|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	279	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GAAGTGTTCATCTTCTTCTTCAA	0.394																																					NSCLC(33;911 1010 3329 23631 49995)	.											0																																										SO:0001651	inframe_deletion	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.837_839delAGA	1.37:g.245025807_245025809delTCT	ENSP00000283179:p.Glu279del		O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	ENST00000283179.9	37	CCDS41479.1																																																																																				0.394	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		-	245025803	TCT	-	245025801	7	5	47	1	0	1	0	1	0	0	0	0	7273	1435	50	0	1686	0	HNRNPU	1	245025801	In_Frame_Del	DEL	TCT	TCGA-KN-8432-01A-11D-2310-10	16593705	245025801	4224820	15	4555											
CNST	163882	broad.mit.edu	37	chr1	246811292	246811292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatctgccttctgatgagAgctgtctttctcttgatgat	8	16	9	8	0	4	5	0	4	4	2	5	6	4	5	1	0	2	1	1	0	1	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:246811292A>G	ENST00000366513.4	+	9	2058	c.1789A>G	c.(1789-1791)Agc>Ggc	p.S597G	CNST_ENST00000366512.3_Missense_Mutation_p.S597G|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	597					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTCTGATGAGAGCTGTCTTTC	0.388																																						.											0													83	87	86					1																	246811292		2203	4300	6503	SO:0001583	missense	163882			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1789A>G	1.37:g.246811292A>G	ENSP00000355470:p.Ser597Gly		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051141	0.55218	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.25912	2.05;1.77	5.62	1.8	0.24995	.	0.454768	0.26082	N	0.026447	T	0.26159	0.0638	M	0.77103	2.36	0.09310	N	0.999997	B;B	0.27997	0.096;0.197	B;B	0.25614	0.039;0.062	T	0.26087	-1.0113	10	0.72032	D	0.01	-27.1833	5.9865	0.19436	0.7426:0.0:0.1354:0.1219	.	597;597	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	G	597	ENSP00000355470:S597G;ENSP00000355469:S597G	ENSP00000355469:S597G	S	+	1	0	CNST	244877915	0.974000	0.33945	0.007000	0.13788	0.744000	0.42396	2.531000	0.45650	0.498000	0.27948	0.383000	0.25322	AGC		0.388	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		G	246811292	A	G	246811292	3	3	47	1	0	0	0	0	1	0	0	0	3634	304	11	2	1819	2	CNST	1	246811292	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	1785491	246811292	2439329	16	4556											
CAPN13	92291	ucsc.edu;bcgsc.ca	37	chr2	30953639	30953639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttcagttgtacatgAccaggctcatccactgaaaa	11	12	7	11	0	2	2	2	2	0	0	3	2	3	2	2	1	2	4	2	1	3	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:30953639A>G	ENST00000295055.8	-	22	2173	c.1997T>C	c.(1996-1998)gTc>gCc	p.V666A	CAPN13_ENST00000534090.2_Missense_Mutation_p.V666A	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	666	EF-hand 2.				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)					GTTGTACATGACCAGGCTCAT	0.478																																						.											0													129	129	129					2																	30953639		1977	4150	6127	SO:0001583	missense	92291				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.1997T>C	2.37:g.30953639A>G	ENSP00000295055:p.Val666Ala		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554372	0.45487	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.31769	1.48;1.48	4.79	2.48	0.30137	EF-hand-like domain (1);	0.654613	0.16302	N	0.220413	T	0.19167	0.0460	L	0.29908	0.895	0.32415	N	0.550165	P	0.50710	0.938	B	0.40329	0.326	T	0.25082	-1.0142	10	0.56958	D	0.05	.	5.5473	0.17071	0.7872:0.0:0.2128:0.0	.	666	Q6MZZ7	CAN13_HUMAN	A	666	ENSP00000295055:V666A;ENSP00000431298:V666A	ENSP00000295055:V666A	V	-	2	0	CAPN13	30807143	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	1.684000	0.37649	0.940000	0.37473	0.533000	0.62120	GTC		0.478	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		G	30953639	A	G	30953639	3	3	47	1	0	0	0	0	1	0	0	0	2626	275	10	2	16	2	CAPN13	2	30953639	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		30953639	212245734	17	4557											
XDH	7498	broad.mit.edu	37	chr2	31590910	31590910	+	Missense_Mutation	SNP	T	T	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	caggtccataaaaggagttgTtctttatagcatcctgagga	12	12	10	7	0	1	1	0	1	1	0	3	3	3	3	2	3	1	3	2	3	4	6			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:31590910T>C	ENST00000379416.3	-	20	2162	c.2114A>G	c.(2113-2115)aAc>aGc	p.N705S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	705					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)	AAAGGAGTTGTTCTTTATAGC	0.438																																					Colon(66;682 1445 30109 40147)	.											0													157	148	151					2																	31590910		2203	4300	6503	SO:0001583	missense	7498			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.2114A>G	2.37:g.31590910T>C	ENSP00000368727:p.Asn705Ser		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961610	0.53400	.	.	ENSG00000158125	ENST00000379416	T	0.38077	1.16	6.02	6.02	0.97574	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.371642	0.33457	N	0.004886	T	0.31575	0.0801	L	0.28556	0.865	0.34950	D	0.751198	B	0.22080	0.064	B	0.27170	0.077	T	0.39761	-0.9598	10	0.59425	D	0.04	.	14.4967	0.67694	0.0:0.0:0.0:1.0	.	705	P47989	XDH_HUMAN	S	705	ENSP00000368727:N705S	ENSP00000368727:N705S	N	-	2	0	XDH	31444414	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.093000	0.50217	2.311000	0.77944	0.533000	0.62120	AAC		0.438	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		C	31590910	T	C	31590910	3	2	47	1	0	0	0	0	1	0	0	0	17423	1725	60	2	1955	2	XDH	2	31590910	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	637271	31590910	211608463	18	4558											
HNRPLL	92906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	38818735	38818735	+	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	ccaccacagattcacagagtCctcgaacatggacgacgggt	12	6	10	13	3	1	2	1	0	0	2	3	5	2	3	3	2	1	0	3	2	1	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:38818735C>A	ENST00000449105.3	-	2	584	c.245G>T	c.(244-246)gGa>gTa	p.G82V	HNRNPLL_ENST00000358367.4_Missense_Mutation_p.G82V|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.G82V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.G77V|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.G82V|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.G82V|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.G77V|HNRNPLL_ENST00000498516.1_5'UTR			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	82	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										TTCACAGAGTCCTCGAACATG	0.403																																						.											0													125	120	122					2																	38818735		2203	4300	6503	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.245G>T	2.37:g.38818735C>A	ENSP00000390625:p.Gly82Val		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.354370	0.95830	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000358367;ENST00000410076;ENST00000425682	T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56153	-0.8026	10	0.87932	D	0	.	20.1992	0.98252	0.0:1.0:0.0:0.0	.	77;82	C9J9G0;D6W592	.;.	V	82;77;82;82;82;77;21	ENSP00000390625:G82V;ENSP00000387088:G77V;ENSP00000368195:G82V;ENSP00000386575:G82V;ENSP00000351136:G82V;ENSP00000386695:G77V;ENSP00000396669:G21V	ENSP00000351136:G82V	G	-	2	0	HNRPLL	38672239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.515000	0.81761	2.775000	0.95449	0.650000	0.86243	GGA		0.403	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		A	38818735	C	A	38818735	3	1	47	1	0	0	0	0	1	0	0	0	7277	855	30	5	1431	5	HNRPLL	2	38818735	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	7227825	38818735	204380638	19	4559											
SFRS7	6432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	38978394	38978394	+	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	ctccgtaccgcccgtaacgcGacatgatgacagacccgcgt	9	6	10	16	7	0	3	0	2	0	1	1	4	1	3	4	0	2	2	4	0	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:38978394G>A	ENST00000313117.6	-	1	242	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SRSF7_ENST00000409276.1_Missense_Mutation_p.S2L|SRSF7_ENST00000446327.2_Missense_Mutation_p.S2L|GEMIN6_ENST00000409011.1_5'Flank	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	2					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCGTAACGCGACATGATGAC	0.627																																						.											0													188	146	160					2																	38978394		2203	4300	6503	SO:0001583	missense	6432			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.5C>T	2.37:g.38978394G>A	ENSP00000325905:p.Ser2Leu		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846108	0.91277	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.26957	1.77;1.7;2.38	4.98	4.98	0.66077	.	0.610527	0.14490	N	0.316430	T	0.47002	0.1422	M	0.82323	2.585	0.80722	D	1	P;P	0.51449	0.945;0.909	P;B	0.50314	0.637;0.434	T	0.54510	-0.8283	10	0.72032	D	0.01	.	17.4054	0.87472	0.0:0.0:1.0:0.0	.	2;2	G5E9M3;Q16629	.;SRSF7_HUMAN	L	2	ENSP00000325905:S2L;ENSP00000402264:S2L;ENSP00000386806:S2L	ENSP00000325905:S2L	S	-	2	0	SRSF7	38831898	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	6.372000	0.73123	2.574000	0.86865	0.561000	0.74099	TCG		0.627	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		A	38978394	G	A	38978394	3	1	47	1	0	0	0	0	1	0	0	0	14182	1059	37	1	743	1	SFRS7	2	38978394	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	159659	38978394	204220979	20	4560											
TUBA3D	113457	mdanderson.org	37	chr2	132236921	132236921	+	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	tacaggcagctcttccacccGgagcagctgatcaccgggaa	10	6	11	14	2	2	1	1	1	1	0	3	3	3	3	3	3	4	4	3	3	2	2	rs4065352	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:132236921G>A	ENST00000321253.6	+	3	374	c.267G>A	c.(265-267)ccG>ccA	p.P89P	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	89					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTTCCACCCGGAGCAGCTGA	0.532																																					Ovarian(137;2059 2432 35543 39401)	.											0													137	125	129					2																	132236921		2203	4300	6503	SO:0001819	synonymous_variant	113457			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.267G>A	2.37:g.132236921G>A			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	CCDS33290.1																																																																																				0.532	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		A	132236921	G	A	132236921	2	1	47	1	0	0	0	0	0	0	0	1	16744	1103	39	1		1	TUBA3D	2	132236921	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	93258527	132236921	110962452	21	4561											
MCM6	4175	broad.mit.edu	37	chr2	136614368	136614368	+	Missense_Mutation	SNP	T	T	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	tgggagctgacaaatttataTtctgtttcaatgattttgat	11	18	8	4	0	2	3	1	3	1	0	2	4	2	4	0	1	1	2	0	1	4	7			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:136614368T>C	ENST00000264156.2	-	11	1616	c.1556A>G	c.(1555-1557)aAt>aGt	p.N519S	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	519	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)		CAAATTTATATTCTGTTTCAA	0.423																																					Ovarian(196;141 2104 8848 24991 25939)	.											0													133	127	129					2																	136614368		2203	4300	6503	SO:0001583	missense	4175				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.1556A>G	2.37:g.136614368T>C	ENSP00000264156:p.Asn519Ser		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742623	0.89573	.	.	ENSG00000076003	ENST00000264156	T	0.09255	3.0	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67268	-0.5713	10	0.87932	D	0	-24.3423	15.8953	0.79329	0.0:0.0:0.0:1.0	.	519	Q14566	MCM6_HUMAN	S	519	ENSP00000264156:N519S	ENSP00000264156:N519S	N	-	2	0	MCM6	136330838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.902000	0.87389	2.158000	0.67659	0.482000	0.46254	AAT		0.423	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		C	136614368	T	C	136614368	3	2	47	1	0	0	0	0	1	0	0	0	9391	1493	52	4	937	4	MCM6	2	136614368	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	4377447	136614368	106585005	22	4562											
LRP2	4036	broad.mit.edu	37	chr2	169999257	169999257	+	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	gcacagctgtatcctccaggTctcagaaggcagaggtggct	9	8	13	11	0	1	2	1	0	1	2	4	2	3	2	2	4	1	5	2	4	2	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:169999257T>C	ENST00000263816.3	-	71	13320	c.13035A>G	c.(13033-13035)agA>agG	p.R4345R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4345	EGF-like 16. {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)"	ATCCTCCAGGTCTCAGAAGGC	0.537																																						.											0													109	104	105					2																	169999257		2203	4300	6503	SO:0001819	synonymous_variant	4036				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.13035A>G	2.37:g.169999257T>C			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.537	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	169999257	T	C	169999257	2	2	47	1	0	0	0	0	0	0	0	1	8956	1664	58	2		2	LRP2	2	169999257	Silent	SNP	T	TCGA-KN-8432-01A-11D-2310-10	33384889	169999257	73200116	23	4563											
ZNF142	7701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	219513452	219513452	+	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	atcttttcatgagcatgcatCttgcctacatgatcctggta	9	15	7	10	0	3	2	1	2	2	0	4	2	4	2	2	1	4	3	2	1	2	5			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:219513452C>G	ENST00000449707.1	-	6	1600	c.1179G>C	c.(1177-1179)aaG>aaC	p.K393N	ZNF142_ENST00000411696.2_Missense_Mutation_p.K393N	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		gagcaTGCATCTTGCCTACAT	0.542											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)	.											0													96	90	92					2																	219513452		2076	4224	6300	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1179G>C	2.37:g.219513452C>G	ENSP00000408643:p.Lys393Asn	2259	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118889	0.56505	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14144	2.53;2.53	5.87	4.99	0.66335	Zinc finger, C2H2-like (1);	0.091759	0.85682	D	0.000000	T	0.31544	0.0800	M	0.72894	2.215	0.41280	D	0.986901	D;P	0.54964	0.969;0.955	P;P	0.57468	0.711;0.821	T	0.01162	-1.1432	10	0.72032	D	0.01	-6.4339	14.7909	0.69841	0.0:0.9311:0.0:0.0689	.	393;230	P52746;A8MWU9	ZN142_HUMAN;.	N	393	ENSP00000408643:K393N;ENSP00000398798:K393N	ENSP00000398798:K393N	K	-	3	2	ZNF142	219221696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.872000	0.48467	2.941000	0.99782	0.655000	0.94253	AAG		0.542	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		G	219513452	C	G	219513452	3	3	47	1	0	0	0	0	1	0	0	0	17728	912	32	5	3904	5	ZNF142	2	219513452	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	49514195	219513452	23685921	24	4564											
OBSL1	23363	broad.mit.edu	37	chr2	220432822	220432822	+	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	gcgcacccggccccgcatctCgcacaggtagataccatcat	9	6	9	17	4	2	1	1	0	1	1	3	1	2	1	4	2	1	4	4	2	2	2	rs2292359		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:220432822C>T	ENST00000404537.1	-	2	1293	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000603926.1_Missense_Mutation_p.E413K|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Missense_Mutation_p.E413K|OBSL1_ENST00000373876.1_Missense_Mutation_p.E413K|OBSL1_ENST00000373873.4_Missense_Mutation_p.E413K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	413	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCCGCATCTCGCACAGGTAG	0.637											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											0													71	78	76					2																	220432822		2129	4236	6365	SO:0001583	missense	23363			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.1237G>A	2.37:g.220432822C>T	ENSP00000385636:p.Glu413Lys	2266	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389568	0.82902	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75860	0.3907	M	0.65677	2.01	0.49483	D	0.999798	D;D	0.89917	1.0;0.998	D;P	0.87578	0.998;0.85	T	0.73072	-0.4098	9	0.33141	T	0.24	.	14.4333	0.67266	0.0:0.7489:0.2511:0.0	rs2292359	413;413	O75147;O75147-2	OBSL1_HUMAN;.	K	413	ENSP00000265318:E413K;ENSP00000385636:E413K;ENSP00000362983:E413K;ENSP00000362980:E413K	ENSP00000265318:E413K	E	-	1	0	OBSL1	220141066	0.999000	0.42202	1.000000	0.80357	0.893000	0.52053	3.913000	0.56394	2.694000	0.91930	0.650000	0.86243	GAG		0.637	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220432822	C	T	220432822	3	4	47	1	0	0	0	0	1	0	0	0	10813	893	31	1	4685	1	OBSL1	2	220432822	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	919370	220432822	22766551	25	4565											
ITM2C	81618	bcgsc.ca	37	chr2	231741668	231741668	+	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	ctcgcaacttctgggagctcCtcatgaacgtgaaggtgcgc	8	9	12	12	3	2	2	1	2	1	0	4	3	3	3	1	2	4	2	1	2	3	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:231741668C>T	ENST00000326427.6	+	4	673	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ITM2C_ENST00000335005.6_Missense_Mutation_p.L136F|ITM2C_ENST00000409704.2_Missense_Mutation_p.L121F|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000326407.6_Intron	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	183	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGGGAGCTCCTCATGAACGT	0.577																																						.											0													107	105	106					2																	231741668		2203	4300	6503	SO:0001583	missense	81618			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.547C>T	2.37:g.231741668C>T	ENSP00000322730:p.Leu183Phe		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838631	0.71373	.	.	ENSG00000135916	ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.8	5.8	0.92144	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.84642	0.5517	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.83072	-0.0142	9	.	.	.	-27.6121	15.5632	0.76266	0.0:1.0:0.0:0.0	.	136;183	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	F	121;183;136;121;121;121	ENSP00000440295:L121F;ENSP00000322730:L183F;ENSP00000335121:L136F;ENSP00000444899:L121F;ENSP00000387242:L121F;ENSP00000403257:L121F	.	L	+	1	0	ITM2C	231449912	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.967000	0.49216	2.735000	0.93741	0.655000	0.94253	CTC		0.577	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		T	231741668	C	T	231741668	3	4	47	1	0	0	0	0	1	0	0	0	7914	681	24	4	561	4	ITM2C	2	231741668	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	11308846	231741668	11457705	26	4566											
ALPPL2	251	hgsc.bcm.edu;mdanderson.org	37	chr2	233274094	233274094	+	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	gcctacacggtcctcctataCggaaacggtccaggctatgt	9	9	10	13	3	0	0	0	0	0	0	3	1	3	1	4	4	3	1	4	4	5	4	rs563231782	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:233274094C>T	ENST00000295453.3	+	10	1288	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	412					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)	TCCTCCTATACGGAAACGGTC	0.662													c|||	2	0.000399361	0	0.0029	5008	,	,		12898	0		0	False		,,,				2504	0					.											0													14	12	13					2																	233274094		2132	4175	6307	SO:0001819	synonymous_variant	251			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.1236C>T	2.37:g.233274094C>T			A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	CCDS2491.1																																																																																				0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233274094	C	T	233274094	2	4	47	1	0	0	0	0	0	0	0	1	549	547	19	1		1	ALPPL2	2	233274094	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	1532426	233274094	9925279	27	4567											
UGT1A1	54658	bcgsc.ca	37	chr2	234669525	234669542	+	In_Frame_Del	DEL	CTCCTCTCATTCAGATCA	CTCCTCTCATTCAGATCA	-																															cctacgtgcccaggcctctcTcctctcattcagatcacatg																								rs199675631|rs550460320		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	CTCCTCTCATTCAGATCA	CTCCTCTCATTCAGATCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:234669525_234669542delCTCCTCTCATTCAGATCA	ENST00000608383.1	+	1	592_609	c.592_609delCTCCTCTCATTCAGATCA	c.(592-609)ctcctctcattcagatcadel	p.LLSFRS198del	UGT1A1_ENST00000609767.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000360418.3_In_Frame_Del_p.LLSFRS198del|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A8_ENST00000305208.5_In_Frame_Del_p.LLSFRS198del|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	198					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCC	0.523																																						.											0																																										SO:0001651	inframe_deletion	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.592_609delCTCCTCTCATTCAGATCA	2.37:g.234669525_234669542delCTCCTCTCATTCAGATCA	ENSP00000476741:p.Leu198_Ser203del		A6NJC3|B8K286	In_Frame_Del	DEL	ENST00000608383.1	37	CCDS2510.1																																																																																				0.523	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				-	234669542	CTCCTCTCATTCAGATCA	-	234669525	7	5	47	1	0	1	0	1	0	0	0	0	16941	1551	54	0	594	0	UGT1A1	2	234669525	In_Frame_Del	DEL	CTCCTCTCATTCAGATCA	TCGA-KN-8432-01A-11D-2310-10	1395431	234669525	8529848	28	4568											
C2orf85	285093	ucsc.edu;bcgsc.ca	37	chr2	242815181	242815181	+	Missense_Mutation	SNP	T	T	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	agggcggtggccacgttgccTacggcccccagggcaatggc	6	5	16	14	3	0	0	0	0	0	0	0	0	0	0	4	6	2	2	4	6	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:242815181T>C	ENST00000343216.3	+	2	1502	c.1474T>C	c.(1474-1476)Tac>Cac	p.Y492H		NM_173821.2	NP_776182.2																					CCACGTTGCCTACGGCCCCCA	0.632																																						.											0													67	80	76					2																	242815181		2078	4195	6273	SO:0001583	missense	285093																														ENST00000343216.3:c.1474T>C	2.37:g.242815181T>C	ENSP00000345374:p.Tyr492His			Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.369156	0.24771	.	.	ENSG00000188011	ENST00000343216	T	0.24151	1.87	1.96	-0.631	0.11526	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	P	0.46020	0.871	B	0.34242	0.178	T	0.19484	-1.0304	9	0.87932	D	0	-7.1084	1.7057	0.02881	0.5123:0.0:0.1891:0.2986	.	492	Q14D33	CB085_HUMAN	H	492	ENSP00000345374:Y492H	ENSP00000345374:Y492H	Y	+	1	0	C2orf85	242463854	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-1.805000	0.01737	-0.153000	0.11137	0.165000	0.16767	TAC		0.632	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			C	242815181	T	C	242815181	3	2	47	1	0	0	0	0	1	0	0	0	2200	1522	53	2	1480	2	C2orf85	2	242815181	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	8145656	242815181	384192	29	4569											
VHL	7428	ucsc.edu;bcgsc.ca	37	chr3	10183608	10183608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgaagagtacggccctgAagaagacggcggggaggagt	11	4	18	8	5	0	4	0	1	0	3	1	7	0	6	1	5	1	1	1	5	4	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:10183608A>G	ENST00000256474.2	+	1	917	c.77A>G	c.(76-78)gAa>gGa	p.E26G	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.E26G	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	26	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				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.E26G(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)		TACGGCCCTGAAGAAGACGGC	0.731		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	1	Substitution - Missense(1)	kidney(1)											9	12	11					3																	10183608		1937	3843	5780	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	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.77A>G	3.37:g.10183608A>G	ENSP00000256474:p.Glu26Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.495981	0.44352	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.85013	-1.93;-1.93	3.41	-0.726	0.11170	.	0.806388	0.09846	N	0.748190	T	0.69378	0.3104	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.003	T	0.57365	-0.7824	10	0.87932	D	0	-2.5634	3.318	0.07040	0.5484:0.2091:0.2425:0.0	.	26;26	P40337-2;P40337	.;VHL_HUMAN	G	26	ENSP00000256474:E26G;ENSP00000344757:E26G	ENSP00000256474:E26G	E	+	2	0	VHL	10158608	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	0.232000	0.17891	-0.217000	0.10033	-0.572000	0.04151	GAA		0.731	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183608	A	G	10183608	3	3	47	1	0	0	0	0	1	0	0	0	17159	246	9	4	79	4	VHL	3	10183608	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		10183608	187838822	30	4570											
ABHD14A	25864	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	52014444	52014444	+	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	caccttcaaaggaggcaagcAcagaggcagggcgggcagcg	12	2	16	11	2	1	1	1	0	0	1	1	2	1	2	1	5	2	4	1	5	2	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:52014444A>C	ENST00000273596.3	+	4	501	c.433A>C	c.(433-435)Aca>Cca	p.T145P	ACY1_ENST00000458031.2_Intron|ABHD14A_ENST00000491470.1_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	145						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAGGCAAGCACAGAGGCAGG	0.642																																						.											0													41	47	45					3																	52014444		2203	4300	6503	SO:0001583	missense	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.433A>C	3.37:g.52014444A>C	ENSP00000273596:p.Thr145Pro		Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465322	0.63513	.	.	ENSG00000248487	ENST00000497864;ENST00000494478;ENST00000273596;ENST00000538216	T;T;T	0.34472	1.36;1.36;1.93	5.69	5.69	0.88448	.	.	.	.	.	T	0.35885	0.0947	L	0.56396	1.775	0.80722	D	1	B	0.16166	0.016	B	0.17433	0.018	T	0.11717	-1.0576	9	0.24483	T	0.36	.	14.1954	0.65667	1.0:0.0:0.0:0.0	.	145	Q9BUJ0	ABHEA_HUMAN	P	210;140;145;103	ENSP00000418242:T210P;ENSP00000420475:T140P;ENSP00000273596:T145P	ENSP00000273596:T145P	T	+	1	0	ABHD14A	51989484	0.998000	0.40836	0.998000	0.56505	0.825000	0.46686	4.292000	0.59031	2.170000	0.68504	0.460000	0.39030	ACA		0.642	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		C	52014444	A	C	52014444	3	2	47	1	0	0	0	0	1	0	0	0	79	159	6	5	447	5	ABHD14A	3	52014444	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	41830836	52014444	146007986	31	4571											
SNTN	132203	broad.mit.edu;bcgsc.ca	37	chr3	63649637	63649637	+	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	aagaaaccaagccaaaatacAgagagatcctttctgaactt	18	8	6	9	0	1	4	0	1	1	3	2	5	2	4	3	0	4	0	3	0	7	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:63649637A>T	ENST00000343837.3	+	4	330	c.310A>T	c.(310-312)Aga>Tga	p.R104*	SNTN_ENST00000496807.1_Intron	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	104						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						GCCAAAATACAGAGAGATCCT	0.358																																						.											0													104	99	101					3																	63649637		2203	4300	6503	SO:0001587	stop_gained	132203			AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817			33706	protein-coding gene	gene with protein product	"S100A-like protein"					18829862	Standard	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000343837.3:c.310A>T	3.37:g.63649637A>T	ENSP00000341442:p.Arg104*		B7FF65	Nonsense_Mutation	SNP	ENST00000343837.3	37	CCDS33779.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110024	0.77210	.	.	ENSG00000188817	ENST00000343837;ENST00000469440	.	.	.	5.6	4.5	0.54988	.	0.722044	0.13102	N	0.413673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.7598	10.5063	0.44836	0.7943:0.2057:0.0:0.0	.	.	.	.	X	104;134	.	ENSP00000341442:R104X	R	+	1	2	SNTN	63624677	1.000000	0.71417	0.207000	0.23584	0.947000	0.59692	1.480000	0.35464	1.049000	0.40321	0.482000	0.46254	AGA		0.358	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1	NM_001080537		T	63649637	A	T	63649637	4	4	47	1	0	0	0	0	0	1	0	0	14876	180	7	5	324	5	SNTN	3	63649637	Nonsense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	11635193	63649637	134372793	32	4572											
OR5H14	403273	mdanderson.org	37	chr3	97868588	97868588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcttggcaacaatggcatAtgatcgctatgtagccatat	11	13	8	9	1	1	1	0	1	1	0	3	1	1	1	1	2	2	4	1	2	6	5			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:97868588A>G	ENST00000437310.1	+	1	419	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACAATGGCATATGATCGCTAT	0.403																																						.											0													118	130	126					3																	97868588		2203	4299	6502	SO:0001583	missense	403273				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.359A>G	3.37:g.97868588A>G	ENSP00000401706:p.Tyr120Cys		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	A	3.665	-0.068796	0.07228	.	.	ENSG00000236032	ENST00000437310	T	0.01347	4.99	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000704	T	0.02807	0.0084	M	0.84683	2.71	0.22581	N	0.998966	B	0.33280	0.405	B	0.30782	0.12	T	0.23440	-1.0188	10	0.72032	D	0.01	.	8.4219	0.32705	1.0:0.0:0.0:0.0	.	120	A6NHG9	O5H14_HUMAN	C	120	ENSP00000401706:Y120C	ENSP00000401706:Y120C	Y	+	2	0	OR5H14	99351278	1.000000	0.71417	0.963000	0.40424	0.048000	0.14542	3.811000	0.55620	1.132000	0.42129	0.164000	0.16699	TAT		0.403	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			G	97868588	A	G	97868588	3	3	47	1	0	0	0	0	1	0	0	0	11160	449	16	4	361	4	OR5H14	3	97868588	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	34218951	97868588	100153842	33	4573											
MCM2	4171	broad.mit.edu	37	chr3	127323460	127323460	+	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	tgctccctcagggactaccgCgccatcccagagctggacgc	7	6	11	17	3	1	1	1	0	0	1	3	3	3	3	4	2	3	2	4	2	1	1	rs186022338		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:127323460C>T	ENST00000265056.7	+	3	490	c.246C>T	c.(244-246)cgC>cgT	p.R82R		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	82	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						GGGACTACCGCGCCATCCCAG	0.592													C|||	1	0.000199681	0	0	5008	,	,		19091	0.001		0	False		,,,				2504	0					.											0								C		0,4406		0,0,2203	50	54	53		246	-10.6	0.4	3		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCM2	NM_004526.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		82/905	127323460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4171			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.246C>T	3.37:g.127323460C>T			Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	CCDS3043.1																																																																																				0.592	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127323460	C	T	127323460	2	4	47	1	0	0	0	0	0	0	0	1	9386	755	27	1		1	MCM2	3	127323460	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	29454872	127323460	70698970	34	4574											
IGSF10	285313	broad.mit.edu	37	chr3	151163769	151163769	+	Missense_Mutation	SNP	T	T	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	tctagatctctctgtttgggTttcataagtgatgacagatg	9	16	10	6	0	4	4	1	2	3	2	5	4	4	4	0	1	0	2	0	1	2	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:151163769T>C	ENST00000282466.3	-	4	3999	c.4000A>G	c.(4000-4002)Acc>Gcc	p.T1334A		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	1334					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)			TCTGTTTGGGTTTCATAAGTG	0.418																																						.											0													326	309	315					3																	151163769		2203	4300	6503	SO:0001583	missense	285313			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.4000A>G	3.37:g.151163769T>C	ENSP00000282466:p.Thr1334Ala		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	6.485	0.457729	0.12342	.	.	ENSG00000152580	ENST00000282466	T	0.70516	-0.49	4.51	3.34	0.38264	.	0.434043	0.19170	N	0.120951	T	0.47154	0.1430	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36237	-0.9756	10	0.46703	T	0.11	.	7.0675	0.25159	0.0:0.1882:0.0:0.8118	.	1334	Q6WRI0	IGS10_HUMAN	A	1334	ENSP00000282466:T1334A	ENSP00000282466:T1334A	T	-	1	0	IGSF10	152646459	0.010000	0.17322	0.157000	0.22605	0.025000	0.11179	0.441000	0.21611	0.695000	0.31675	0.482000	0.46254	ACC		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151163769	T	C	151163769	3	2	47	1	0	0	0	0	1	0	0	0	7597	1725	60	2	3931	2	IGSF10	3	151163769	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	23840309	151163769	46858661	35	4575											
FRYL	285527	broad.mit.edu;mdanderson.org	37	chr4	48513002	48513002	+	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	ccaaactttctttgaattgtCtatggagaaaagcagaagaa	16	11	8	6	0	2	4	0	1	2	3	2	5	2	4	1	1	2	1	1	1	7	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:48513002C>G	ENST00000503238.1	-	55	8145		c.e55-1		FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000507873.2_Splice_Site			O94915	FRYL_HUMAN	FRY-like						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						TTTGAATTGTCTATGGAGAAA	0.328																																						.											0													57	52	54					4																	48513002		1845	4085	5930	SO:0001630	splice_region_variant	285527			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.8146-1G>C	4.37:g.48513002C>G			O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216286	0.39201	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48207759	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	7.194000	0.77789	2.854000	0.98071	0.655000	0.94253	.		0.328	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	G	48513002	C	G	48513002	5	3	47	1	0	0	0	0	0	0	1	0	6064	927	32	5	924	5	FRYL	4	48513002	Splice_Site	SNP	C	TCGA-KN-8432-01A-11D-2310-10		48513002	142641274	36	4576											
LRRC66	339977	broad.mit.edu;mdanderson.org	37	chr4	52861445	52861445	+	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	agggaagctgttatttctccGgagagggaagggtctaattc	10	11	14	6	1	2	1	0	0	2	1	4	4	2	3	1	4	1	2	1	4	4	4	rs187026269		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:52861445G>A	ENST00000343457.3	-	4	1749	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	581						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						TTATTTCTCCGGAGAGGGAAG	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		19676	0		0	False		,,,				2504	0					.											0													103	110	108					4																	52861445		2124	4276	6400	SO:0001819	synonymous_variant	339977			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.1743C>T	4.37:g.52861445G>A				Silent	SNP	ENST00000343457.3	37	CCDS43229.1																																																																																				0.498	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		A	52861445	G	A	52861445	2	1	47	1	0	0	0	0	0	0	0	1	9018	1103	39	1		1	LRRC66	4	52861445	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	4348443	52861445	138292831	37	4577											
MUC7	4589	broad.mit.edu	37	chr4	71347311	71347311	+	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	caccagagaccacagctgccCcacccacaccttctgcaact	11	5	5	20	0	1	1	0	0	1	1	1	2	1	1	6	0	4	2	6	0	1	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:71347311C>T	ENST00000304887.5	+	3	1040	c.850C>T	c.(850-852)Cca>Tca	p.P284S	MUC7_ENST00000456088.1_Missense_Mutation_p.P284S|MUC7_ENST00000413702.1_Missense_Mutation_p.P284S	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	284	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACAGCTGCCCCACCCACACC	0.577																																						.											0													408	367	381					4																	71347311		2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.850C>T	4.37:g.71347311C>T	ENSP00000302021:p.Pro284Ser		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	6.574	0.474257	0.12521	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.64085	-0.08;-0.08;-0.08	1.95	1.09	0.20402	.	.	.	.	.	T	0.36936	0.0985	N	0.19112	0.55	0.09310	N	1	P	0.41784	0.762	B	0.35655	0.207	T	0.15350	-1.0440	8	.	.	.	.	2.6366	0.04959	0.2801:0.5462:0.0:0.1737	.	284	Q8TAX7	MUC7_HUMAN	S	284	ENSP00000407422:P284S;ENSP00000400585:P284S;ENSP00000302021:P284S	.	P	+	1	0	MUC7	71381900	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.878000	0.28126	0.357000	0.24183	0.603000	0.83216	CCA		0.577	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		T	71347311	C	T	71347311	3	4	47	1	0	0	0	0	1	0	0	0	9981	623	22	3	856	3	MUC7	4	71347311	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	18485866	71347311	119806965	38	4578											
MTTP	4547	broad.mit.edu	37	chr4	100503089	100503091	+	In_Frame_Del	DEL	ATG	ATG	-																															aactggtctctcattaaataAtgaccggctgtacaagctca																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	ATG	ATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:100503089_100503091delATG	ENST00000265517.5	+	2	292_294	c.89_91delATG	c.(88-93)aatgac>aac	p.D31del	MTTP_ENST00000511045.1_In_Frame_Del_p.D58del|MTTP_ENST00000457717.1_In_Frame_Del_p.D31del|MTTP_ENST00000422897.2_In_Frame_Del_p.D31del			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	31	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)	TCATTAAATAATGACCGGCTGTA	0.458																																						.											0																																										SO:0001651	inframe_deletion	4547				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.89_91delATG	4.37:g.100503089_100503091delATG	ENSP00000265517:p.Asp31del		A8K428|Q08AM4|Q6P5T3	In_Frame_Del	DEL	ENST00000265517.5	37	CCDS3651.1																																																																																				0.458	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			-	100503091	ATG	-	100503089	7	5	47	1	0	1	0	1	0	0	0	0	9964	101	4	0	95	0	MTTP	4	100503089	In_Frame_Del	DEL	ATG	TCGA-KN-8432-01A-11D-2310-10	29155778	100503089	90651187	39	4579											
NPY1R	4886	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	164247528	164247528	+	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	tcaagatgattatgatcaagGccaggtttccagagacacca	14	9	9	9	0	2	4	2	2	0	2	3	5	3	4	3	2	0	1	3	2	3	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:164247528G>C	ENST00000296533.2	-	2	710	c.179C>G	c.(178-180)gCc>gGc	p.A60G	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	60					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGATCAAGGCCAGGTTTCC	0.408																																						.											0													126	114	118					4																	164247528		2203	4300	6503	SO:0001583	missense	4886				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.179C>G	4.37:g.164247528G>C	ENSP00000354652:p.Ala60Gly		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283635	0.59867	.	.	ENSG00000164128	ENST00000296533;ENST00000504790;ENST00000515701	T	0.72505	-0.66	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	L	0.31420	0.93	0.80722	D	1	P	0.44521	0.837	B	0.43990	0.438	T	0.67632	-0.5621	10	0.45353	T	0.12	.	19.5226	0.95192	0.0:0.0:1.0:0.0	.	60	P25929	NPY1R_HUMAN	G	60	ENSP00000354652:A60G	ENSP00000354652:A60G	A	-	2	0	NPY1R	164466978	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.145000	0.71769	2.617000	0.88574	0.585000	0.79938	GCC		0.408	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			C	164247528	G	C	164247528	3	2	47	1	0	0	0	0	1	0	0	0	10608	1203	42	5	983	5	NPY1R	4	164247528	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	63744439	164247528	26906748	40	4580											
TKTL2	84076	broad.mit.edu	37	chr4	164393866	164393866	+	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	catcgtgtcaccactcagaaCaataactctttcatttgcac	12	12	4	13	1	4	1	3	0	1	1	5	1	4	1	1	0	3	1	1	0	3	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:164393866C>A	ENST00000280605.3	-	1	1181	c.1021G>T	c.(1021-1023)Gtt>Ttt	p.V341F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	341						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCACTCAGaacaataactctt	0.433																																						.											0													120	117	118					4																	164393866		2203	4300	6503	SO:0001583	missense	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1021G>T	4.37:g.164393866C>A	ENSP00000280605:p.Val341Phe		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441919	0.83993	.	.	ENSG00000151005	ENST00000280605	D	0.92249	-3.0	4.3	4.3	0.51218	Transketolase-like, pyrimidine-binding domain (2);	0.133117	0.48286	D	0.000182	D	0.95787	0.8629	M	0.83603	2.65	0.45005	D	0.998025	D	0.61697	0.99	D	0.69142	0.962	D	0.96047	0.9028	10	0.87932	D	0	-19.7279	15.0576	0.71927	0.0:1.0:0.0:0.0	.	341	Q9H0I9	TKTL2_HUMAN	F	341	ENSP00000280605:V341F	ENSP00000280605:V341F	V	-	1	0	TKTL2	164613316	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.325000	0.79124	2.672000	0.90937	0.655000	0.94253	GTT		0.433	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164393866	C	A	164393866	3	1	47	1	0	0	0	0	1	0	0	0	15933	478	17	5	863	5	TKTL2	4	164393866	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	146338	164393866	26760410	41	4581											
SDHA	6389	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	235341	235341	+	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	tggccacgcgcctgcctggcAtttcagagacagccatgatc	8	8	11	14	2	1	2	1	1	0	1	2	3	1	2	4	2	2	1	4	2	0	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:235341A>T	ENST00000264932.6	+	9	1262	c.1147A>T	c.(1147-1149)Att>Ttt	p.I383F	SDHA_ENST00000510361.1_Missense_Mutation_p.I335F|SDHA_ENST00000504309.1_Missense_Mutation_p.I383F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	383					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)	CCTGCCTGGCATTTCAGAGAC	0.592									Familial Paragangliomas																													.											0													65	59	61					5																	235341		2203	4300	6503	SO:0001583	missense	6389	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	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.1147A>T	5.37:g.235341A>T	ENSP00000264932:p.Ile383Phe		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	24.4	4.530122	0.85706	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.90160	0.6925	H	0.98936	4.375	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;0.998;1.0;0.998;0.998	D	0.93509	0.6851	10	0.87932	D	0	.	13.1683	0.59583	1.0:0.0:0.0:0.0	.	335;383;383;383;389	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	383;238;383;335	ENSP00000264932:I383F;ENSP00000426514:I383F;ENSP00000427703:I335F	ENSP00000264932:I383F	I	+	1	0	SDHA	288341	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	8.509000	0.90529	2.055000	0.61198	0.455000	0.32223	ATT		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		T	235341	A	T	235341	3	4	47	1	0	0	0	0	1	0	0	0	13963	217	8	5	1181	5	SDHA	5	235341	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		235341	180679919	42	4582											
ANKRD43	134548	broad.mit.edu	37	chr5	132149586	132149590	+	Frame_Shift_Del	DEL	ACCCT	ACCCT	-																															cccccggagcccgagcccgcAcccttcggccccccgggggc																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	ACCCT	ACCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:132149586_132149590delACCCT	ENST00000378693.2	+	1	554_558	c.273_277delACCCT	c.(271-279)gcacccttcfs	p.PF92fs		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	92	Pro-rich.																CCGAGCCCGCACCCTTCGGCCCCCC	0.712																																						.											0																																										SO:0001589	frameshift_variant	134548			AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.273_277delACCCT	5.37:g.132149586_132149590delACCCT	ENSP00000367965:p.Pro92fs		Q8NAE7	Frame_Shift_Del	DEL	ENST00000378693.2	37	CCDS43361.1																																																																																				0.712	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		-	132149590	ACCCT	-	132149586	7	5	47	1	0	1	0	1	0	0	0	0	671	146	6	0	275	0	ANKRD43	5	132149586	Frame_Shift_Del	DEL	ACCCT	TCGA-KN-8432-01A-11D-2310-10	131914245	132149586	48765674	43	4583											
ANKHD1-EIF4EBP3	8637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	139928655	139928655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagacagaggaagagAtacccggtaaggaaagcagg	17	2	16	6	1	0	3	0	0	0	3	0	7	0	5	1	5	3	3	1	5	4	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:139928655A>G	ENST00000310331.2	+	2	340	c.268A>G	c.(268-270)Ata>Gta	p.I90V	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D2615G|ANKHD1_ENST00000297183.6_Missense_Mutation_p.D2615G|SRA1_ENST00000520427.1_5'Flank	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3	90					negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAAGAGATACCCGGTAA	0.557																																						.											0													48	50	49					5																	139928655		2203	4300	6503	SO:0001583	missense	404734			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498	ENST00000310331.2:c.268A>G	5.37:g.139928655A>G	ENSP00000308472:p.Ile90Val			Missense_Mutation	SNP	ENST00000310331.2	37	CCDS4226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.54|18.54	3.646949|3.646949	0.67358|0.67358	.|.	.|.	ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000243056	ENST00000297183;ENST00000532219;ENST00000437495|ENST00000310331	T;T;T|.	0.73258|.	-0.73;-0.73;0.58|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|.	.|.	.|.	.|.	T|T	0.40222|0.40222	0.1108|0.1108	N|N	0.17474|0.17474	0.49|0.49	0.39119|0.39119	D|D	0.961632|0.961632	B|B	0.12013|0.06786	0.005|0.001	B|B	0.14023|0.04013	0.01|0.001	T|T	0.32666|0.32666	-0.9898|-0.9898	8|7	.|.	.|.	.|.	.|.	12.9688|12.9688	0.58501|0.58501	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2615|90	Q8IWZ2|O60516	.|4EBP3_HUMAN	G|V	2615;2615;634|90	ENSP00000297183:D2615G;ENSP00000432016:D2615G;ENSP00000396882:D634G|.	.|.	D|I	+|+	2|1	0|0	ANKHD1-EIF4EBP3;ANKHD1|EIF4EBP3	139908839|139908839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.202000|3.202000	0.51067|0.51067	2.091000|2.091000	0.63221|0.63221	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.557	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		G	139928655	A	G	139928655	3	3	47	1	0	0	0	0	1	0	0	0	629	333	12	4	7982	4	ANKHD1-EIF4EBP3	5	139928655	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	7779069	139928655	40986605	44	4584											
ZNF354A	6940	mdanderson.org	37	chr5	178139379	178139380	+	Missense_Mutation	DNP	CC	CC	GT																															gagttacacctgaatgttttCccacactcgttacatttata																								rs199632980|rs201342253	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:178139379_178139380CC>GT	ENST00000335815.2	-	5	1696_1697	c.1499_1500GG>AC	c.(1498-1500)gGG>gAC	p.G500D		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	500					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TGAATGTTTTCCCACACTCGTT	0.391																																						.											0																																										SO:0001583	missense	6940			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1499_1500delinsGT	5.37:g.178139379_178139380delinsGT	ENSP00000337122:p.Gly500Asp		Q9UNJ8	Missense_Mutation	DNP	ENST00000335815.2	37	CCDS4438.1																																																																																				0.391	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		GT	178139380	CC	GT	178139379	3	3	47	1	0	0	0	0	1	0	0	0	17861	842	30	5	321	5	ZNF354A	5	178139379	Missense_Mutation	DNP	CC	TCGA-KN-8432-01A-11D-2310-10	38210724	178139379	2775881	45	4585	112	2									
ZNF354A	6940	mdanderson.org	37	chr5	178139385	178139385	+	Silent	SNP	C	C	T																															cacctgaatgttttcccacaCtcgttacatttatagggtct																								rs199620032	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:178139385C>T	ENST00000335815.2	-	5	1691	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	498					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTTTCCCACACTCGTTACATT	0.388																																						.											0													122	119	120					5																	178139385		2203	4300	6503	SO:0001819	synonymous_variant	6940			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1494G>A	5.37:g.178139385C>T			Q9UNJ8	Silent	SNP	ENST00000335815.2	37	CCDS4438.1																																																																																				0.388	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		T	178139385	C	T	178139385	2	4	47	1	0	0	0	0	0	0	0	1	17861	564	20	4		4	ZNF354A	5	178139385	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	6	178139385	2775875	46	4586	112	2									
HLA-DQA2	3118	mdanderson.org	37	chr6	32714168	32714168	+	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	tccagacaccaagggctcttAtgaatcccatcctgaaaagg	13	8	8	12	0	1	3	0	2	1	1	4	3	4	3	4	2	0	1	4	2	5	1	rs9276437	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:32714168A>G	ENST00000374940.3	+	4	867	c.765A>G	c.(763-765)ttA>ttG	p.L255L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	255					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)|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)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	AAGGGCTCTTATGAATCCCAT	0.517													.|||	786	0.156949	0.3033	0.219	5008	,	,		21502	0.0655		0.1153	False		,,,				2504	0.0521					.											0								G		751,2271		79,593,839	119	121	120		765	1.1	0.1	6	dbSNP_118	120	527,4891		14,499,2196	no	coding-synonymous	HLA-DQA2	NM_020056.4		93,1092,3035	GG,GA,AA		9.7268,24.8511,15.1422		255/256	32714168	1278,7162	1511	2709	4220	SO:0001819	synonymous_variant	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.765A>G	6.37:g.32714168A>G			A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																				0.517	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		G	32714168	A	G	32714168	2	3	47	1	0	0	0	0	0	0	0	1	7205	446	16	4		4	HLA-DQA2	6	32714168	Silent	SNP	A	TCGA-KN-8432-01A-11D-2310-10		32714168	138400899	47	4587											
MTCH1	23787	broad.mit.edu;hgsc.bcm.edu	37	chr6	36938223	36938223	+	Frame_Shift_Del	DEL	G	G	-																															aggtcgccaactagcaggaaGgggtaggtcagcatgctcac																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:36938223delG	ENST00000373627.5	-	10	1105	c.981delC	c.(979-981)cccfs	p.P327fs	MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000538808.1_Frame_Shift_Del_p.P154fs|MTCH1_ENST00000373616.5_Frame_Shift_Del_p.P310fs	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	327					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						CTAGCAGGAAGGGGTAGGTCA	0.622																																						.											0													87	79	82					6																	36938223		2203	4300	6503	SO:0001589	frameshift_variant	23787			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.981delC	6.37:g.36938223delG	ENSP00000362730:p.Pro327fs		A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Frame_Shift_Del	DEL	ENST00000373627.5	37																																																																																					0.622	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		-	36938223	G	-	36938223	7	5	47	1	0	1	0	1	0	0	0	0	9913	987	35	0	200	0	MTCH1	6	36938223	Frame_Shift_Del	DEL	G	TCGA-KN-8432-01A-11D-2310-10	4224055	36938223	134176844	48	4588	113	2									
MTCH1	23787	bcgsc.ca	37	chr6	36938224	36938224	+	Frame_Shift_Del	DEL	G	G	-																															ggtcgccaactagcaggaagGggtaggtcagcatgctcact																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:36938224delG	ENST00000373627.5	-	10	1104	c.980delC	c.(979-981)cccfs	p.P327fs	MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000538808.1_Frame_Shift_Del_p.P154fs|MTCH1_ENST00000373616.5_Frame_Shift_Del_p.P310fs	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	327					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						TAGCAGGAAGGGGTAGGTCAG	0.617																																						.											0													87	78	81					6																	36938224		2203	4300	6503	SO:0001589	frameshift_variant	23787			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.980delC	6.37:g.36938224delG	ENSP00000362730:p.Pro327fs		A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Frame_Shift_Del	DEL	ENST00000373627.5	37																																																																																					0.617	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		-	36938224	G	-	36938224	7	5	47	1	0	1	0	1	0	0	0	0	9913	1232	43	0	201	0	MTCH1	6	36938224	Frame_Shift_Del	DEL	G	TCGA-KN-8432-01A-11D-2310-10	1	36938224	134176843	49	4589	113	2									
RNF8	9025	bcgsc.ca	37	chr6	37336717	37336717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacagaggttcatcatgAgcagaaagcctcaaactctt	14	9	8	10	0	5	3	4	1	1	2	5	3	5	3	1	1	3	2	1	1	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:37336717A>G	ENST00000373479.4	+	3	891	c.698A>G	c.(697-699)gAg>gGg	p.E233G	RNF8_ENST00000469731.1_Missense_Mutation_p.E233G|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	233					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						GTTCATCATGAGCAGAAAGCC	0.463																																						.											0													93	98	97					6																	37336717		2203	4300	6503	SO:0001583	missense	9025			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.698A>G	6.37:g.37336717A>G	ENSP00000362578:p.Glu233Gly		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	CCDS4834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.90|11.90	1.777999|1.777999	0.31502|0.31502	.|.	.|.	ENSG00000112130|ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731|ENST00000498460	D;T;T|.	0.82893|.	-1.66;0.84;0.86|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	1.171240|.	0.06183|.	N|.	0.679756|.	T|.	0.35098|.	0.0920|.	N|N	0.14661|0.14661	0.345|0.345	0.49915|0.49915	D|D	0.999837|0.999837	B;B|.	0.23937|.	0.094;0.039|.	B;B|.	0.16722|.	0.016;0.016|.	T|.	0.34875|.	-0.9811|.	10|.	0.54805|.	T|.	0.06|.	-0.8433|-0.8433	15.8218|15.8218	0.78654|0.78654	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	176;233|.	C9J858;O76064|.	.;RNF8_HUMAN|.	G|W	233;176;233|22	ENSP00000362578:E233G;ENSP00000417736:E176G;ENSP00000418879:E233G|.	ENSP00000362578:E233G|.	E|X	+|+	2|3	0|0	RNF8|RNF8	37444695|37444695	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.413000|0.413000	0.31143|0.31143	2.544000|2.544000	0.45761|0.45761	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.463	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			G	37336717	A	G	37336717	3	3	47	1	0	0	0	0	1	0	0	0	13500	304	11	2	708	2	RNF8	6	37336717	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	398493	37336717	133778350	50	4590											
KCNQ5	56479	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	73787542	73787542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttttcgtctttccttGtctatctggtggaaaaggat	7	20	8	6	1	3	0	0	0	3	0	5	2	4	2	1	3	0	0	1	3	4	7			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:73787542G>T	ENST00000370398.1	+	5	959	c.850G>T	c.(850-852)Gtc>Ttc	p.V284F	KCNQ5_ENST00000355194.4_Missense_Mutation_p.V284F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V284F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.V284F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.V284F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.V284F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V284F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V284F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	284					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)	GTCTTTCCTTGTCTATCTGGT	0.333																																					GBM(142;1375 1859 14391 23261 44706)	.											0													130	112	118					6																	73787542		2203	4300	6503	SO:0001583	missense	56479			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.850G>T	6.37:g.73787542G>T	ENSP00000359425:p.Val284Phe		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043519	0.93685	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11;-4.11;-4.11;-4.11	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	L	0.48260	1.515	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.976;0.986;0.998;0.996;0.997;0.991	D	0.97750	1.0214	10	0.87932	D	0	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	284;284;284;284;284;284	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	F	284	ENSP00000345055:V284F;ENSP00000347326:V284F;ENSP00000359425:V284F;ENSP00000359419:V284F;ENSP00000385501:V284F;ENSP00000347853:V284F;ENSP00000384453:V284F;ENSP00000409861:V284F	ENSP00000345055:V284F	V	+	1	0	KCNQ5	73844263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.771000	0.95319	0.650000	0.86243	GTC		0.333	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73787542	G	T	73787542	3	4	47	1	0	0	0	0	1	0	0	0	8086	1377	48	5	868	5	KCNQ5	6	73787542	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	36450825	73787542	97327525	51	4591											
LAMA4	3910	broad.mit.edu;mdanderson.org	37	chr6	112480083	112480083	+	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	gcataaatccctgacgcattCtaaagaaaaaaattttaata	19	11	4	7	1	1	2	0	1	1	1	2	2	2	2	1	0	0	2	1	0	9	6			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:112480083C>G	ENST00000230538.7	-	14	2066		c.e14-1		LAMA4_ENST00000424408.2_Splice_Site|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTGACGCATTCTAAAGAAAAA	0.308																																						.											0													75	70	71					6																	112480083		2202	4300	6502	SO:0001630	splice_region_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1669-1G>C	6.37:g.112480083C>G			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Splice_Site	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237236	0.58886	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.695	0.85333	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA4	112586776	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	4.452000	0.60054	2.668000	0.90789	0.591000	0.81541	.		0.308	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	Intron	G	112480083	C	G	112480083	5	3	47	1	0	0	0	0	0	0	1	0	8608	927	32	5	3907	5	LAMA4	6	112480083	Splice_Site	SNP	C	TCGA-KN-8432-01A-11D-2310-10	38692541	112480083	58634984	52	4592											
MED23	9439	broad.mit.edu	37	chr6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-																															tcctatactcctcctccacaTtttttttcagattaaaacgg																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000479213.1_5'Flank	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					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)	p.N759fs*7(1)|p.N765fs*7(1)		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)		CTCCTCCACATTTTTTTTCAG	0.378																																						.											2	Insertion - Frameshift(2)	large_intestine(2)											154	151	152					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	9439			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.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			-	131919846	T	-	131919846	7	5	47	1	0	1	0	1	0	0	0	0	9441	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-KN-8432-01A-11D-2310-10	19439763	131919846	39195221	53	4593											
TAAR2	9287	broad.mit.edu	37	chr6	132945376	132945376	+	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	ttttttgtctgtgttcttttGaaatgtgaaagttcatgttg	7	22	9	3	0	3	2	1	2	2	0	3	2	3	2	0	0	0	3	0	0	2	8			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:132945376G>C	ENST00000367931.1	-	1	38	c.39C>G	c.(37-39)ttC>ttG	p.F13L	TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	13					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)		GTGTTCTTTTGAAATGTGAAA	0.378																																						.											0													163	139	147					6																	132945376		2203	4300	6503	SO:0001583	missense	9287			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.39C>G	6.37:g.132945376G>C	ENSP00000356908:p.Phe13Leu		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411143	0.25465	.	.	ENSG00000146378	ENST00000367931	T	0.58797	0.31	3.9	-0.907	0.10521	.	4.101820	0.00541	N	0.000221	T	0.08758	0.0217	N	0.08118	0	0.20926	N	0.999828	B	0.02656	0.0	B	0.01281	0.0	T	0.08229	-1.0732	10	0.02654	T	1	-3.0145	0.5532	0.00666	0.1716:0.2031:0.2155:0.4097	.	13	Q9P1P5	TAAR2_HUMAN	L	13	ENSP00000356908:F13L	ENSP00000356908:F13L	F	-	3	2	TAAR2	132987069	0.001000	0.12720	0.003000	0.11579	0.183000	0.23260	-0.531000	0.06171	-0.161000	0.10983	0.650000	0.86243	TTC		0.378	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		C	132945376	G	C	132945376	3	2	47	1	0	0	0	0	1	0	0	0	15487	1281	45	5	1024	5	TAAR2	6	132945376	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	1025530	132945376	38169691	54	4594											
AHR	196	hgsc.bcm.edu;ucsc.edu	37	chr7	17369578	17369578	+	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	tgtatcttttttctttagtcTgatgtcatacatcagagtgt	8	20	7	6	0	5	2	2	1	3	1	5	2	5	2	0	0	1	1	0	0	3	7			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:17369578T>A	ENST00000242057.4	+	5	1096	c.453T>A	c.(451-453)tcT>tcA	p.S151S		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	151	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTCTTTAGTCTGATGTCATAC	0.358																																						.											0													68	69	69					7																	17369578		2203	4300	6503	SO:0001819	synonymous_variant	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.453T>A	7.37:g.17369578T>A			A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	CCDS5366.1																																																																																				0.358	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		A	17369578	T	A	17369578	2	1	47	1	0	0	0	0	0	0	0	1	416	1567	55	5		5	AHR	7	17369578	Silent	SNP	T	TCGA-KN-8432-01A-11D-2310-10		17369578	141769085	55	4595											
VWC2	375567	ucsc.edu	37	chr7	49815089	49815089	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttccctcctggtcaccTgctgcctgatggtggctctg	3	12	11	15	0	2	1	1	1	1	0	4	1	4	1	5	3	2	3	5	3	0	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:49815089T>C	ENST00000340652.4	+	2	614	c.58T>C	c.(58-60)Tgc>Cgc	p.C20R		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	20					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						CCTGGTCACCTGCTGCCTGAT	0.711																																						.											0													22	17	19					7																	49815089		2200	4299	6499	SO:0001583	missense	375567			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.58T>C	7.37:g.49815089T>C	ENSP00000341819:p.Cys20Arg		Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086076	0.55861	.	.	ENSG00000188730	ENST00000340652	T	0.33654	1.4	4.53	3.34	0.38264	.	0.159801	0.43747	D	0.000532	T	0.16981	0.0408	N	0.08118	0	0.47547	D	0.999459	P	0.41041	0.736	B	0.32465	0.146	T	0.06481	-1.0824	10	0.87932	D	0	-12.7074	11.0243	0.47736	0.0:0.0:0.1567:0.8433	.	20	Q2TAL6	VWC2_HUMAN	R	20	ENSP00000341819:C20R	ENSP00000341819:C20R	C	+	1	0	VWC2	49785635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.836000	0.62789	0.538000	0.28769	0.454000	0.30748	TGC		0.711	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		C	49815089	T	C	49815089	3	2	47	1	0	0	0	0	1	0	0	0	17240	1580	55	2	60	2	VWC2	7	49815089	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	32445511	49815089	109323574	56	4596											
IKZF1	10320	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr7	50444370	50444370	+	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	ggctcccacagggaccaaggCagctcggctttgtcgggagt	7	7	15	12	2	0	0	0	0	0	0	3	2	1	2	2	5	1	4	2	5	1	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:50444370C>T	ENST00000331340.3	+	4	455	c.300C>T	c.(298-300)ggC>ggT	p.G100G	IKZF1_ENST00000439701.1_Silent_p.G100G|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Silent_p.G100G|IKZF1_ENST00000357364.4_Silent_p.G100G|IKZF1_ENST00000349824.4_Silent_p.G100G|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Silent_p.G100G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	100					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGGACCAAGGCAGCTCGGCTT	0.512			"D,T"	BCL6	"ALL, DLBCL"																																	.		"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											91	98	96					7																	50444370		1949	4133	6082	SO:0001819	synonymous_variant	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.300C>T	7.37:g.50444370C>T			A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																					0.512	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		T	50444370	C	T	50444370	2	4	47	1	0	0	0	0	0	0	0	1	7614	697	25	4		4	IKZF1	7	50444370	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	629281	50444370	108694293	57	4597											
GTF2IRD2B	389524	hgsc.bcm.edu	37	chr7	74563945	74563945	+	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	aataataccacccagttggcCatattcatccgtggtgtcga	11	11	8	11	2	1	0	1	0	0	0	3	1	2	0	4	2	1	1	4	2	4	5			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:74563945C>A	ENST00000312575.7	+	16	1867	c.1692C>A	c.(1690-1692)gcC>gcA	p.A564A	GTF2IRD2B_ENST00000418185.2_Silent_p.A111A	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						cccagttggccatattcatcc	0.438																																						.											0													12	13	13					7																	74563945		2195	4276	6471	SO:0001819	synonymous_variant	389524			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.1692C>A	7.37:g.74563945C>A			B2RNE9|Q69GU6|Q8N979|Q9H739	Silent	SNP	ENST00000312575.7	37	CCDS34659.1																																																																																				0.438	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	NM_001003795		A	74563945	C	A	74563945	2	1	47	1	0	0	0	0	0	0	0	1	6870	581	21	5		5	GTF2IRD2B	7	74563945	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	24119575	74563945	84574718	58	4598											
MLL3	58508	mdanderson.org	37	chr7	151962294	151962294	+	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	cacagtttgcatcttccttcGctataattaacagtgaaaca	13	13	5	10	1	1	1	0	1	1	0	3	1	2	1	1	0	3	3	1	0	4	6			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:151962294G>A	ENST00000262189.6	-	8	1231	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	KMT2C_ENST00000355193.2_Splice_Site_p.S338L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	338					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)										ATCTTCCTTCGCTATAATTAA	0.368																																						.											0													67	63	64					7																	151962294		2203	4299	6502	SO:0001630	splice_region_variant	58508			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.1013-1C>T	7.37:g.151962294G>A			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342287	0.24339	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98862	-5.19;-5.19	4.65	4.65	0.58169	Zinc finger, RING/FYVE/PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.36482	U	0.002566	D	0.98024	0.9349	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.97032	0.9751	10	0.11794	T	0.64	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	338	Q8NEZ4	MLL3_HUMAN	L	338	ENSP00000262189:S338L;ENSP00000347325:S338L	ENSP00000262189:S338L	S	-	2	0	MLL3	151593227	1.000000	0.71417	0.997000	0.53966	0.003000	0.03518	7.569000	0.82380	2.271000	0.75665	0.557000	0.71058	TCG		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Missense_Mutation	A	151962294	G	A	151962294	5	1	47	1	0	0	0	0	0	0	1	0	9622	1101	38	1	13930	1	MLL3	7	151962294	Splice_Site	SNP	G	TCGA-KN-8432-01A-11D-2310-10	77398349	151962294	7176369	59	4599											
XKR6	286046	broad.mit.edu	37	chr8	10755515	10755515	+	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	gaggagtggtccgtctcgatAtcgaatgcctactgcggtgg	7	10	15	9	4	1	0	0	0	1	0	4	4	2	1	2	4	3	0	2	4	3	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:10755515A>C	ENST00000416569.2	-	3	1899	c.1873T>G	c.(1873-1875)Tat>Gat	p.Y625D	XKR6_ENST00000304437.2_Missense_Mutation_p.Y346D	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	625						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)		CCGTCTCGATATCGAATGCCT	0.468																																						.											0													125	116	119					8																	10755515		2203	4300	6503	SO:0001583	missense	286046			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.1873T>G	8.37:g.10755515A>C	ENSP00000416707:p.Tyr625Asp		Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.93|15.93	2.978415|2.978415	0.53720|0.53720	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000382461|ENST00000304437;ENST00000416569	.|D;D	.|0.94000	.|-3.11;-3.33	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.135739	.|0.51477	.|D	.|0.000086	D|D	0.96037|0.96037	0.8709|0.8709	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	D|D	0.96450|0.96450	0.9333|0.9333	5|10	.|0.87932	.|D	.|0	-7.7754|-7.7754	13.2781|13.2781	0.60198|0.60198	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|625	.|Q5GH73	.|XKR6_HUMAN	E|D	401|346;625	.|ENSP00000307120:Y346D;ENSP00000416707:Y625D	.|ENSP00000307120:Y346D	D|Y	-|-	3|1	2|0	XKR6|XKR6	10792925|10792925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.123000|9.123000	0.94387|0.94387	1.911000|1.911000	0.55334|0.55334	0.449000|0.449000	0.29647|0.29647	GAT|TAT		0.468	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		C	10755515	A	C	10755515	3	2	47	1	0	0	0	0	1	0	0	0	17432	449	16	5	56	5	XKR6	8	10755515	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		10755515	135608507	60	4600											
INTS10	55174	broad.mit.edu	37	chr8	19680921	19680921	+	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	ttttatatcaattatgtcacTaggtctactcaaatagaaaa	16	15	4	6	0	4	1	3	0	1	1	4	1	4	1	0	1	1	0	0	1	10	7			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:19680921T>C	ENST00000397977.3	+	6	1031	c.633T>C	c.(631-633)acT>acC	p.T211T		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	211					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ATTATGTCACTAGGTCTACTC	0.323																																						.											0													93	87	89					8																	19680921		1824	4075	5899	SO:0001819	synonymous_variant	55174			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.633T>C	8.37:g.19680921T>C			Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	T	9.641	1.138867	0.21123	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.38	-3.37	0.04898	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34453	-0.9828	4	.	.	.	-18.7854	2.7856	0.05373	0.1213:0.3811:0.2493:0.2483	.	.	.	.	P	8	.	.	L	+	2	0	INTS10	19725201	0.444000	0.25649	0.939000	0.37840	0.952000	0.60782	-0.305000	0.08188	-0.481000	0.06792	0.379000	0.24179	CTA		0.323	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		C	19680921	T	C	19680921	2	2	47	1	0	0	0	0	0	0	0	1	7776	1509	53	2		2	INTS10	8	19680921	Silent	SNP	T	TCGA-KN-8432-01A-11D-2310-10	8925406	19680921	126683101	61	4601											
KIAA1429	25962	broad.mit.edu;bcgsc.ca	37	chr8	95539559	95539559	+	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	caagtcagcaattccatcttCatcactggaaatttgttcat	12	14	5	10	0	5	0	4	0	1	0	6	1	6	1	1	1	1	2	1	1	3	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:95539559C>T	ENST00000297591.5	-	8	988	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	KIAA1429_ENST00000437199.1_Missense_Mutation_p.E305K|KIAA1429_ENST00000421249.2_Missense_Mutation_p.E305K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	305	Glu-rich.				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)			ATTCCATCTTCATCACTGGAA	0.318																																						.											0													54	54	54					8																	95539559		2203	4300	6503	SO:0001583	missense	25962			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.913G>A	8.37:g.95539559C>T	ENSP00000297591:p.Glu305Lys		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584510	0.86748	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.55052	0.56;0.57;0.54	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.73997	-0.3806	10	0.72032	D	0.01	-17.3179	19.8292	0.96628	0.0:1.0:0.0:0.0	.	305;305	Q69YN4-4;Q69YN4	.;VIR_HUMAN	K	305	ENSP00000297591:E305K;ENSP00000395600:E305K;ENSP00000398390:E305K	ENSP00000297591:E305K	E	-	1	0	KIAA1429	95608735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.689000	0.91719	0.491000	0.48974	GAA		0.318	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		T	95539559	C	T	95539559	3	4	47	1	0	0	0	0	1	0	0	0	8231	835	29	4	4647	4	KIAA1429	8	95539559	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	75858638	95539559	50824463	62	4602											
STK3	6788	ucsc.edu	37	chr8	99779547	99779547	+	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	aacaggtacttgtttaattgCgacaacttgaccggattcct	11	13	8	9	2	0	1	0	1	0	0	1	3	1	2	2	2	4	2	2	2	4	7			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:99779547C>T	ENST00000419617.2	-	3	300	c.160G>A	c.(160-162)Gca>Aca	p.A54T	STK3_ENST00000523601.1_Missense_Mutation_p.A82T	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	54	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)	p.A54T(1)		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)		TGTTTAATTGCGACAACTTGA	0.323																																						.											1	Substitution - Missense(1)	large_intestine(1)											108	100	103					8																	99779547		1877	4142	6019	SO:0001583	missense	6788			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.160G>A	8.37:g.99779547C>T	ENSP00000390500:p.Ala54Thr		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319913	0.95682	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.41758	0.99;0.99;1.53	5.67	5.67	0.87782	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	0.77308	0.4111	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.978;0.989;0.985	D	0.84472	0.0600	10	0.87932	D	0	.	19.7782	0.96405	0.0:1.0:0.0:0.0	.	54;54;82	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	T	54;82;54	ENSP00000390500:A54T;ENSP00000429744:A82T;ENSP00000428014:A54T	ENSP00000390500:A54T	A	-	1	0	STK3	99848723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.667000	0.90743	0.561000	0.74099	GCA		0.323	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		T	99779547	C	T	99779547	3	4	47	1	0	0	0	0	1	0	0	0	15294	768	27	1	1351	1	STK3	8	99779547	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	4239988	99779547	46584475	63	4603											
VPS13B	157680	ucsc.edu;bcgsc.ca	37	chr8	100533136	100533136	+	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	ttttgttacagctaatcaggCagcaaaagaagacactgtgg	14	10	10	7	0	1	2	1	0	0	2	1	2	1	2	0	2	3	4	0	2	5	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:100533136C>T	ENST00000358544.2	+	30	4829	c.4718C>T	c.(4717-4719)gCa>gTa	p.A1573V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A1548V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1573					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)			GCTAATCAGGCAGCAAAAGAA	0.418																																					Colon(161;2205 2542 7338 31318)	.											0													126	113	117					8																	100533136		2203	4300	6503	SO:0001583	missense	157680			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.4718C>T	8.37:g.100533136C>T	ENSP00000351346:p.Ala1573Val		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.90|10.90	1.480516|1.480516	0.26598|0.26598	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000357162;ENST00000358544|ENST00000521559	T;T|.	0.69685|.	-0.42;-0.41|.	5.65|5.65	3.78|3.78	0.43462|0.43462	.|.	0.685114|.	0.14477|.	N|.	0.317196|.	T|.	0.38746|.	0.1052|.	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999991|0.999991	B;B|.	0.19200|.	0.034;0.02|.	B;B|.	0.18561|.	0.022;0.01|.	T|.	0.21484|.	-1.0244|.	10|.	0.30854|.	T|.	0.27|.	.|.	8.2142|8.2142	0.31501|0.31501	0.3052:0.6236:0.0:0.0712|0.3052:0.6236:0.0:0.0712	.|.	1548;1573|.	Q7Z7G8-2;Q7Z7G8|.	.;VP13B_HUMAN|.	V|X	1548;1573|4	ENSP00000349685:A1548V;ENSP00000351346:A1573V|.	ENSP00000349685:A1548V|.	A|Q	+|+	2|1	0|0	VPS13B|VPS13B	100602312|100602312	1.000000|1.000000	0.71417|0.71417	0.780000|0.780000	0.31762|0.31762	0.896000|0.896000	0.52359|0.52359	2.548000|2.548000	0.45794|0.45794	0.648000|0.648000	0.30732|0.30732	0.557000|0.557000	0.71058|0.71058	GCA|CAG		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100533136	C	T	100533136	3	4	47	1	0	0	0	0	1	0	0	0	17187	710	25	4	5026	4	VPS13B	8	100533136	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	753589	100533136	45830886	64	4604											
TG	7038	ucsc.edu	37	chr8	133911147	133911147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacctgttcgtcccagccTgcctagaagtaagggtctgg	9	9	12	11	1	1	2	0	0	1	2	3	2	2	2	4	2	2	2	4	2	4	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:133911147T>C	ENST00000220616.4	+	14	3362	c.3322T>C	c.(3322-3324)Tgc>Cgc	p.C1108R	TG_ENST00000377869.1_Missense_Mutation_p.C1108R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1108	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CGTCCCAGCCTGCCTAGAAGT	0.493																																						.											0													54	45	48					8																	133911147		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3322T>C	8.37:g.133911147T>C	ENSP00000220616:p.Cys1108Arg		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.81|16.81	3.226747|3.226747	0.58668|0.58668	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000220616|ENST00000543313	D;D|.	0.87491|.	-2.26;-2.26|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Thyroglobulin type-1 (6);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73721|0.73721	0.3623|0.3623	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.74578|0.74578	-0.3619|-0.3619	10|5	0.87932|.	D|.	0|.	.|.	13.4199|13.4199	0.60992|0.60992	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1108|.	P01266|.	THYG_HUMAN|.	R|P	1108|15	ENSP00000367100:C1108R;ENSP00000220616:C1108R|.	ENSP00000220616:C1108R|.	C|L	+|+	1|2	0|0	TG|TG	133980329|133980329	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.437000|0.437000	0.31866|0.31866	4.466000|4.466000	0.60148|0.60148	2.182000|2.182000	0.69389|0.69389	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133911147	T	C	133911147	3	2	47	1	0	0	0	0	1	0	0	0	15810	1580	55	2	3376	2	TG	8	133911147	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	33378011	133911147	12452875	65	4605											
BAI1	575	ucsc.edu;bcgsc.ca	37	chr8	143603450	143603450	+	Missense_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	cctccggaaccgcctcatccGcaagcgcttcctctgcctgg	5	8	9	19	4	2	0	1	0	1	0	5	1	5	1	7	2	3	2	7	2	2	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:143603450G>A	ENST00000517894.1	+	21	4043	c.3149G>A	c.(3148-3150)cGc>cAc	p.R1050H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1050H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1050					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)					CGCCTCATCCGCAAGCGCTTC	0.652																																						.											0													30	40	37					8																	143603450		2200	4299	6499	SO:0001583	missense	575			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.3149G>A	8.37:g.143603450G>A	ENSP00000430945:p.Arg1050His			Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	28.6	4.933063	0.92458	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.39787	1.06;1.06	3.78	3.78	0.43462	.	0.156800	0.43110	U	0.000612	T	0.51024	0.1650	L	0.46947	1.48	0.58432	D	0.999997	D	0.60160	0.987	P	0.56648	0.803	T	0.57493	-0.7802	10	0.87932	D	0	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1050	E9PBK0	.	H	1050	ENSP00000430945:R1050H;ENSP00000313046:R1050H	ENSP00000313046:R1050H	R	+	2	0	BAI1	143600452	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.618000	0.83043	1.641000	0.50575	0.305000	0.20034	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		A	143603450	G	A	143603450	3	1	47	1	0	0	0	0	1	0	0	0	1298	1087	38	1	3227	1	BAI1	8	143603450	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	9692303	143603450	2760572	66	4606											
TYRP1	7306	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	12695641	12695641	+	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	gagatcagaagaaatactggGgccagatggcaacacgccac	15	4	12	10	1	1	4	1	0	0	4	1	5	1	4	2	3	2	1	2	3	4	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:12695641G>A	ENST00000388918.5	+	3	641	c.512G>A	c.(511-513)gGg>gAg	p.G171E	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	171					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)		GAAATACTGGGGCCAGATGGC	0.433									Oculocutaneous Albinism																													.											0													110	104	106					9																	12695641		2203	4300	6503	SO:0001583	missense	7306	Familial Cancer Database		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.512G>A	9.37:g.12695641G>A	ENSP00000373570:p.Gly171Glu		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.532938	0.85812	.	.	ENSG00000107165	ENST00000388918	D	0.85484	-1.99	5.5	5.5	0.81552	Uncharacterised domain, di-copper centre (2);	0.097018	0.64402	D	0.000001	D	0.90614	0.7057	M	0.83384	2.64	0.80722	D	1	D	0.54601	0.967	P	0.56434	0.798	D	0.91438	0.5171	10	0.72032	D	0.01	-9.7978	13.0431	0.58910	0.0739:0.0:0.9261:0.0	.	171	P17643	TYRP1_HUMAN	E	171	ENSP00000373570:G171E	ENSP00000373570:G171E	G	+	2	0	TYRP1	12685641	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.632000	0.83247	2.739000	0.93911	0.467000	0.42956	GGG		0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		A	12695641	G	A	12695641	3	1	47	1	0	0	0	0	1	0	0	0	16813	1232	43	3	518	3	TYRP1	9	12695641	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10		12695641	128517790	67	4607											
PRSS3	5646	mdanderson.org	37	chr9	33797978	33797978	+	Missense_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	tcaaactctcctcacctgccGtcatcaatgcccgcgtgtcc	7	10	6	18	3	5	0	4	0	1	0	7	0	6	0	5	0	3	0	5	0	2	0	rs145485932		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:33797978G>A	ENST00000361005.5	+	3	523	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	PRSS3_ENST00000342836.4_Missense_Mutation_p.V132I|PRSS3_ENST00000429677.3_Missense_Mutation_p.V111I|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.V118I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	175	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)			CTCACCTGCCGTCATCAATGC	0.562																																						.											0													252	190	211					9																	33797978		2203	4300	6503	SO:0001583	missense	5646				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.523G>A	9.37:g.33797978G>A	ENSP00000354280:p.Val175Ile		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	13	0.005952380952380952	5	0.01016260162601626	4	0.011049723756906077	0	0.0	4	0.005277044854881266	G	9.092	1.002042	0.19121	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	3.62	-4.24	0.03777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.578480	0.00881	N	0.002127	T	0.75273	0.3827	L	0.28458	0.855	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.63422	-0.6641	10	0.41790	T	0.15	.	4.242	0.10652	0.4472:0.0:0.3013:0.2515	.	118;175;132	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	I	175;130;132;111;118	ENSP00000354280:V175I;ENSP00000401249:V130I;ENSP00000340889:V132I;ENSP00000401828:V111I;ENSP00000368715:V118I	ENSP00000340889:V132I	V	+	1	0	PRSS3	33787978	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.290000	0.01148	-0.947000	0.03673	-0.643000	0.03959	GTC		0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		A	33797978	G	A	33797978	3	1	47	1	0	0	0	0	1	0	0	0	12622	1145	40	1	577	1	PRSS3	9	33797978	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	21102337	33797978	107415453	68	4608											
CORO2A	7464	broad.mit.edu;bcgsc.ca	37	chr9	100888937	100888937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaccttggcatcttcTcctccaacagggaggaagac	9	8	9	15	0	2	1	0	0	2	1	4	3	3	3	4	3	2	1	4	3	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:100888937T>C	ENST00000343933.5	-	11	1597	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	CORO2A_ENST00000375077.4_Missense_Mutation_p.E447G	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	447					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGCATCTTCTCCTCCAACAG	0.542																																						.											0													142	145	144					9																	100888937		2203	4300	6503	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1340A>G	9.37:g.100888937T>C	ENSP00000343746:p.Glu447Gly		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	T	8.352	0.831191	0.16820	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.72835	-0.69;-0.69	5.36	1.71	0.24356	.	0.368808	0.29602	N	0.011696	T	0.59018	0.2163	L	0.52573	1.65	0.36267	D	0.854913	B;B	0.26318	0.146;0.146	B;B	0.24974	0.057;0.038	T	0.53294	-0.8459	10	0.27082	T	0.32	-17.8995	7.7838	0.29080	0.0:0.2385:0.0:0.7615	.	447;447	Q92828;A8K9S3	COR2A_HUMAN;.	G	447	ENSP00000343746:E447G;ENSP00000364218:E447G	ENSP00000343746:E447G	E	-	2	0	CORO2A	99928758	0.311000	0.24536	0.926000	0.36857	0.170000	0.22686	1.294000	0.33365	0.048000	0.15891	0.418000	0.28097	GAG		0.542	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		C	100888937	T	C	100888937	3	2	47	1	0	0	0	0	1	0	0	0	3756	1551	54	2	245	2	CORO2A	9	100888937	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	67090959	100888937	40324494	69	4609											
RAD23B	5887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	110068852	110068852	+	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	cttctgaacctgcacctgctAgtgcagctaaacaagagaag	13	8	9	11	0	1	2	0	1	1	1	1	3	1	2	2	0	6	4	2	0	6	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:110068852A>T	ENST00000358015.3	+	4	772	c.421A>T	c.(421-423)Agt>Tgt	p.S141C	RAD23B_ENST00000416373.2_Missense_Mutation_p.S69C	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	141					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGCACCTGCTAGTGCAGCTAA	0.552								Direct reversal of damage;Nucleotide excision repair (NER)																														.											0													69	68	68					9																	110068852		2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.421A>T	9.37:g.110068852A>T	ENSP00000350708:p.Ser141Cys		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821602	0.71028	.	.	ENSG00000119318	ENST00000419616;ENST00000358015;ENST00000374678;ENST00000416373	T;T;T	0.48836	0.8;2.16;2.12	5.61	3.31	0.37934	.	0.388826	0.31188	N	0.008099	T	0.43787	0.1263	L	0.47716	1.5	0.34108	D	0.662702	P;D;P	0.57257	0.454;0.979;0.454	B;P;B	0.46975	0.241;0.533;0.159	T	0.59941	-0.7359	10	0.66056	D	0.02	-12.6394	8.892	0.35439	0.8468:0.0:0.1532:0.0	.	120;141;141	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	C	141;141;69;69	ENSP00000416868:S141C;ENSP00000350708:S141C;ENSP00000405623:S69C	ENSP00000350708:S141C	S	+	1	0	RAD23B	109108673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.045000	0.49838	0.969000	0.38237	0.460000	0.39030	AGT		0.552	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		T	110068852	A	T	110068852	3	4	47	1	0	0	0	0	1	0	0	0	12983	420	15	5	435	5	RAD23B	9	110068852	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	9179915	110068852	31144579	70	4610											
PITRM1	10531	bcgsc.ca	37	chr10	3186494	3186494	+	Missense_Mutation	SNP	T	T	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	tggttcttaccatgaccagcTtcctaatgacctgggagcca	9	11	9	12	0	1	2	0	2	1	0	2	3	2	3	5	2	3	2	5	2	2	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr10:3186494T>C	ENST00000224949.4	-	22	2556	c.2522A>G	c.(2521-2523)aAg>aGg	p.K841R	PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.K399R|PITRM1_ENST00000451104.2_Missense_Mutation_p.K743R|PITRM1_ENST00000380989.2_Missense_Mutation_p.K842R|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	841					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						CATGACCAGCTTCCTAATGAC	0.542																																						.											0													28	34	32					10																	3186494		1976	4136	6112	SO:0001583	missense	10531			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.2522A>G	10.37:g.3186494T>C	ENSP00000224949:p.Lys841Arg		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	t	9.334	1.061380	0.19987	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371;ENST00000424714	T;T;T;T;T;T	0.56275	3.12;3.12;3.12;3.12;1.72;0.47	4.63	3.49	0.39957	Peptidase M16, C-terminal (1);	0.095516	0.64402	D	0.000001	T	0.42539	0.1207	L	0.42245	1.32	0.36616	D	0.8755	B;B;B;B;B	0.26120	0.002;0.007;0.142;0.142;0.019	B;B;B;B;B	0.31686	0.007;0.021;0.134;0.134;0.038	T	0.40869	-0.9540	10	0.31617	T	0.26	-29.364	7.2853	0.26335	0.0:0.1041:0.0:0.8959	.	834;743;842;841;834	E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	R	841;834;842;399;743;22;60	ENSP00000224949:K841R;ENSP00000370377:K842R;ENSP00000370382:K399R;ENSP00000401201:K743R;ENSP00000399307:K22R;ENSP00000402072:K60R	ENSP00000224949:K841R	K	-	2	0	PITRM1	3176494	1.000000	0.71417	0.962000	0.40283	0.031000	0.12232	1.381000	0.34362	0.880000	0.35969	0.379000	0.24179	AAG		0.542	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			C	3186494	T	C	3186494	3	2	47	1	0	0	0	0	1	0	0	0	11953	1609	56	2	615	2	PITRM1	10	3186494	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10		3186494	132348253	71	4611											
FAM21C	253725	broad.mit.edu;mdanderson.org	37	chr10	46248632	46248632	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttatttcaaccagagtgAcctcttcacggaagcctccc	10	10	6	15	1	3	2	2	1	1	1	4	3	4	3	5	1	2	0	5	1	3	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr10:46248632A>G	ENST00000336378.4	+	13	1245	c.1127A>G	c.(1126-1128)gAc>gGc	p.D376G	FAM21C_ENST00000359860.4_Missense_Mutation_p.D320G|FAM21C_ENST00000374362.2_Missense_Mutation_p.D376G|FAM21C_ENST00000537517.1_Missense_Mutation_p.D352G|FAM21C_ENST00000540872.1_Missense_Mutation_p.D376G	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	376					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AACCAGAGTGACCTCTTCACG	0.473																																						.											0													37	40	39					10																	46248632		1230	3396	4626	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1127A>G	10.37:g.46248632A>G	ENSP00000337541:p.Asp376Gly		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	A	16.46	3.128197	0.56721	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.23	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.71581	2.175	0.50813	D	0.999894	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;1.0;0.999	T	0.67998	-0.5525	9	0.37606	T	0.19	-18.0159	8.1116	0.30917	1.0:0.0:0.0:0.0	.	352;376;376;321	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	G	376;376;352;376;376;320;288	.	ENSP00000337541:D376G	D	+	2	0	FAM21C	45568638	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.870000	0.56070	1.486000	0.48398	0.491000	0.48974	GAC		0.473	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				G	46248632	A	G	46248632	3	3	47	1	0	0	0	0	1	0	0	0	5542	275	10	2	1177	2	FAM21C	10	46248632	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	43062138	46248632	89286115	72	4612											
PLCE1	51196	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr10	95891977	95891977	+	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	aacagaaaatacagttggatCtctactccatttcctcacca	14	11	4	12	0	2	1	1	0	1	1	5	2	4	2	3	1	3	1	3	1	5	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr10:95891977C>T	ENST00000371380.3	+	2	1488	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	PLCE1_ENST00000371375.1_Missense_Mutation_p.S110F|PLCE1_ENST00000260766.3_Missense_Mutation_p.S418F|PLCE1_ENST00000371385.3_Missense_Mutation_p.S110F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	418					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)				ACAGTTGGATCTCTACTCCAT	0.428																																						.											0													131	133	133					10																	95891977		2003	4165	6168	SO:0001583	missense	51196				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.1253C>T	10.37:g.95891977C>T	ENSP00000360431:p.Ser418Phe		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157637	0.38119	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.08	4.11	0.48088	Ras guanine nucleotide exchange factor, domain (1);	0.773966	0.11722	N	0.535812	T	0.51041	0.1651	N	0.24115	0.695	0.29947	N	0.820542	B;B;B	0.14438	0.003;0.01;0.001	B;B;B	0.13407	0.002;0.009;0.002	T	0.43523	-0.9386	10	0.10902	T	0.67	.	6.5663	0.22513	0.2799:0.6291:0.0:0.091	.	418;110;418	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	F	418;418;110;110	ENSP00000260766:S418F;ENSP00000360431:S418F;ENSP00000360438:S110F;ENSP00000360426:S110F	ENSP00000260766:S418F	S	+	2	0	PLCE1	95881967	0.999000	0.42202	1.000000	0.80357	0.926000	0.56050	1.272000	0.33109	2.512000	0.84698	0.563000	0.77884	TCT		0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	95891977	C	T	95891977	3	4	47	1	0	0	0	0	1	0	0	0	12034	913	32	4	1545	4	PLCE1	10	95891977	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	49643345	95891977	39642770	73	4613											
UBQLN3	50613	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	5530008	5530008	+	Missense_Mutation	SNP	T	T	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	gttaagcattgggtccataaTatctgtgtacatagtgcaaa	13	13	9	6	0	1	0	0	0	1	0	2	0	2	0	1	1	3	4	1	1	6	6			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:5530008T>C	ENST00000311659.4	-	2	928	c.781A>G	c.(781-783)Att>Gtt	p.I261V	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	261										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)		GGGTCCATAATATCTGTGTAC	0.517																																					Ovarian(72;684 1260 12332 41642 52180)	.											0													112	101	105					11																	5530008		2201	4297	6498	SO:0001583	missense	50613			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.781A>G	11.37:g.5530008T>C	ENSP00000347997:p.Ile261Val		Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	t	13.37	2.216064	0.39201	.	.	ENSG00000175520	ENST00000311659	T	0.35789	1.29	5.63	4.49	0.54785	.	0.149702	0.30901	N	0.008646	T	0.22627	0.0546	N	0.16656	0.425	0.32801	D	0.500105	B	0.10296	0.003	B	0.12837	0.008	T	0.17379	-1.0371	10	0.45353	T	0.12	-9.1027	10.2748	0.43504	0.0:0.0823:0.0:0.9177	.	261	Q9H347	UBQL3_HUMAN	V	261	ENSP00000347997:I261V	ENSP00000347997:I261V	I	-	1	0	UBQLN3	5486584	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	1.572000	0.36461	2.262000	0.75019	0.478000	0.44815	ATT		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		C	5530008	T	C	5530008	3	2	47	1	0	0	0	0	1	0	0	0	16895	1406	49	4	1190	4	UBQLN3	11	5530008	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10		5530008	129476508	74	4614											
OR52N1	79473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	5809593	5809593	+	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	aacaagcatcacacccctaaGaaaagtgaggaacccagctt	17	5	7	12	0	1	2	1	1	0	1	1	3	1	3	3	1	4	2	3	1	6	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:5809593G>A	ENST00000317078.1	-	1	453	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACACCCCTAAGAAAAGTGAGG	0.522																																						.											0													121	104	110					11																	5809593		2201	4296	6497	SO:0001583	missense	79473			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.454C>T	11.37:g.5809593G>A	ENSP00000322823:p.Leu152Phe		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	1.194	-0.634327	0.03584	.	.	ENSG00000181001	ENST00000317078	T	0.41758	0.99	4.59	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.498524	0.16680	N	0.203974	T	0.33352	0.0860	L	0.48877	1.53	0.09310	N	1	B	0.18968	0.032	B	0.27170	0.077	T	0.25187	-1.0139	10	0.35671	T	0.21	.	5.4489	0.16552	0.1029:0.0:0.4403:0.4568	.	152	Q8NH53	O52N1_HUMAN	F	152	ENSP00000322823:L152F	ENSP00000322823:L152F	L	-	1	0	OR52N1	5766169	0.000000	0.05858	0.033000	0.17914	0.082000	0.17680	-2.660000	0.00851	0.531000	0.28639	-0.466000	0.05196	CTT		0.522	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		A	5809593	G	A	5809593	3	1	47	1	0	0	0	0	1	0	0	0	11127	942	33	4	511	4	OR52N1	11	5809593	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	279585	5809593	129196923	75	4615											
OR1S2	219958	mdanderson.org	37	chr11	57970981	57970981	+	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	ataggagaagaagatgagtaCaaaggggaagatgataactg	19	6	14	2	0	0	6	0	2	0	4	0	8	0	7	0	3	2	1	0	3	7	3	rs11229278|rs34249289	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:57970981C>T	ENST00000302592.6	-	1	672	c.673G>A	c.(673-675)Gta>Ata	p.V225I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	225			V -> A (in dbSNP:rs11229277).|V -> I (in dbSNP:rs11229278).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGATGAGTACAAAGGGGAAG	0.458													C|||	426	0.0850639	0.0265	0.1138	5008	,	,		23191	0.0556		0.1083	False		,,,				2504	0.1503					.											0													165	137	146					11																	57970981		2201	4296	6497	SO:0001583	missense	219958			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.673G>A	11.37:g.57970981C>T	ENSP00000305469:p.Val225Ile		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	109	0.04990842490842491	13	0.026422764227642278	27	0.07458563535911603	19	0.033216783216783216	50	0.06596306068601583	C	0.180	-1.063021	0.01950	.	.	ENSG00000197887	ENST00000302592	T	0.36699	1.24	4.75	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.471664	0.17897	N	0.158338	T	0.01387	0.0045	N	0.05383	-0.06	0.80722	P	0.0	B	0.14805	0.011	B	0.23852	0.049	T	0.12426	-1.0548	9	0.17369	T	0.5	.	12.7854	0.57502	0.2978:0.7022:0.0:0.0	rs11229278;rs52811080;rs11229278	225	Q8NGQ3	OR1S2_HUMAN	I	225	ENSP00000305469:V225I	ENSP00000305469:V225I	V	-	1	0	OR1S2	57727557	0.000000	0.05858	0.426000	0.26672	0.853000	0.48598	-1.185000	0.03073	0.691000	0.31592	0.655000	0.94253	GTA		0.458	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		T	57970981	C	T	57970981	3	4	47	1	0	0	0	0	1	0	0	0	10973	478	17	4	307	4	OR1S2	11	57970981	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	52161388	57970981	77035535	76	4616											
FERMT3	83706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	63988121	63988121	+	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	tcgttgccccccgtttccagCgaaagttcaaggccaagcag	9	8	10	14	3	1	0	1	0	0	0	3	1	2	0	5	1	3	4	5	1	3	3	rs121918295		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:63988121C>T	ENST00000279227.5	+	12	1632	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	FERMT3_ENST00000345728.5_Nonsense_Mutation_p.R509*	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	513	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						CCGTTTCCAGCGAAAGTTCAA	0.652																																						.											0													15	14	14					11																	63988121		2195	4291	6486	SO:0001587	stop_gained	83706			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.1537C>T	11.37:g.63988121C>T	ENSP00000279227:p.Arg513*		Q8IUA1|Q8N207|Q9BT48	Nonsense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	36	5.881654	0.97062	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	.	.	.	4.21	3.29	0.37713	.	0.071181	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-14.009	10.2263	0.43227	0.4891:0.5109:0.0:0.0	.	.	.	.	X	509;513	.	ENSP00000279227:R513X	R	+	1	2	FERMT3	63744697	1.000000	0.71417	0.995000	0.50966	0.878000	0.50629	3.997000	0.57016	1.108000	0.41662	0.491000	0.48974	CGA		0.652	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		T	63988121	C	T	63988121	4	4	47	1	0	0	0	0	0	1	0	0	5819	760	27	1	1579	1	FERMT3	11	63988121	Nonsense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	6017140	63988121	71018395	77	4617											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	64676833	64676833	+	Missense_Mutation	SNP	T	T	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	gtggcttccctccatcttcaTagatacctggagggggatgg	7	11	13	10	0	2	1	1	0	1	1	4	3	4	3	3	5	1	1	3	5	2	4	rs148849835		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:64676833T>C	ENST00000377264.3	-	15	2226	c.2114A>G	c.(2113-2115)tAt>tGt	p.Y705C	ATG2A_ENST00000421419.2_Missense_Mutation_p.Y705C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	705					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						TCCATCTTCATAGATACCTGG	0.587																																						.											0													42	41	41					11																	64676833		2201	4295	6496	SO:0001583	missense	23130				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.2114A>G	11.37:g.64676833T>C	ENSP00000366475:p.Tyr705Cys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235828	0.58886	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.11063	2.81;2.81	5.3	5.3	0.74995	.	0.325293	0.29722	N	0.011371	T	0.27765	0.0683	L	0.55481	1.735	0.52099	D	0.999942	D	0.76494	0.999	D	0.73380	0.98	T	0.00807	-1.1558	10	0.87932	D	0	.	13.511	0.61513	0.0:0.0:0.0:1.0	.	705	Q2TAZ0	ATG2A_HUMAN	C	705	ENSP00000410522:Y705C;ENSP00000366475:Y705C	ENSP00000366475:Y705C	Y	-	2	0	ATG2A	64433409	0.966000	0.33281	0.468000	0.27192	0.753000	0.42808	1.740000	0.38228	2.129000	0.65627	0.533000	0.62120	TAT		0.587	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		C	64676833	T	C	64676833	3	2	47	1	0	0	0	0	1	0	0	0	1093	1406	49	4	3810	4	ATG2A	11	64676833	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	688712	64676833	70329683	78	4618											
FLI1	2313	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr11	128679073	128679073	+	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	tccgtatcagatcctgggccCgaccagcagtcgcctagcca	8	7	10	16	3	1	1	1	0	0	1	4	2	3	1	6	1	2	2	6	1	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:128679073C>T	ENST00000527786.2	+	8	1292	c.803C>T	c.(802-804)cCg>cTg	p.P268L	FLI1_ENST00000525560.1_Missense_Mutation_p.P75L|FLI1_ENST00000534087.2_Missense_Mutation_p.P235L|FLI1_ENST00000281428.8_Missense_Mutation_p.P202L|FLI1_ENST00000344954.6_Missense_Mutation_p.P235L	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	268					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ATCCTGGGCCCGACCAGCAGT	0.423			T	EWSR1	Ewing sarcoma																																	.		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													86	84	84					11																	128679073		1841	4087	5928	SO:0001583	missense	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.803C>T	11.37:g.128679073C>T	ENSP00000433488:p.Pro268Leu		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643889	0.87859	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.26810	1.71;2.25;2.26;2.25;2.26	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.74647	2.275	0.80722	D	1	P;D;D	0.57257	0.953;0.979;0.971	B;B;P	0.47573	0.348;0.406;0.55	T	0.41574	-0.9501	10	0.66056	D	0.02	.	19.8045	0.96525	0.0:1.0:0.0:0.0	.	268;75;202	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	L	75;235;268;235;202	ENSP00000437124:P75L;ENSP00000339627:P235L;ENSP00000399985:P268L;ENSP00000432950:P235L;ENSP00000281428:P202L	ENSP00000281428:P202L	P	+	2	0	FLI1	128184283	1.000000	0.71417	0.944000	0.38274	0.991000	0.79684	7.722000	0.84778	2.676000	0.91093	0.655000	0.94253	CCG		0.423	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		T	128679073	C	T	128679073	3	4	47	1	0	0	0	0	1	0	0	0	5924	652	23	1	833	1	FLI1	11	128679073	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	64002240	128679073	6327443	79	4619											
TAS2R30	259293	broad.mit.edu	37	chr12	11286136	11286137	+	Frame_Shift_Ins	INS	-	-	A																															gaaagtaaatggcacataacINSagaagaaaggaggtcacagt																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:11286136_11286137insA	ENST00000539585.1	-	1	1106_1107	c.707_708insT	c.(706-708)ctgfs	p.L236fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	236					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						TGGCACATAACAGAAGAAAGGA	0.411																																						.											0																																										SO:0001589	frameshift_variant	259293			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.708dupT	12.37:g.11286137_11286137dupA	ENSP00000444736:p.Leu236fs		Q645X7	Frame_Shift_Ins	INS	ENST00000539585.1	37	CCDS53750.1																																																																																				0.411	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		A	11286137	-	A	11286136	7	5	47	1	0	1	1	0	0	0	0	0	15570	465	17	0	255	0	TAS2R30	12	11286136	Frame_Shift_Ins	INS	-	TCGA-KN-8432-01A-11D-2310-10		11286136	122565759	80	4620											
SLC38A1	81539	broad.mit.edu	37	chr12	46633473	46633473	+	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	aatactcacctatttatctgAccattttctacttcggtgaa	11	16	4	10	1	3	2	1	2	2	0	4	2	3	2	2	1	2	0	2	1	6	8			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:46633473A>G	ENST00000398637.5	-	3	805	c.111T>C	c.(109-111)ggT>ggC	p.G37G	SLC38A1_ENST00000546893.1_Silent_p.G37G|SLC38A1_ENST00000439706.1_Silent_p.G37G|SLC38A1_ENST00000552197.1_Silent_p.G37G|SLC38A1_ENST00000549633.1_Intron|SLC38A1_ENST00000549049.1_Silent_p.G37G	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	37					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)			TATTTATCTGACCATTTTCTA	0.418																																						.											0													151	140	144					12																	46633473		1874	4124	5998	SO:0001819	synonymous_variant	81539			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.111T>C	12.37:g.46633473A>G			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	37	CCDS41774.1																																																																																				0.418	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			G	46633473	A	G	46633473	2	3	47	1	0	0	0	0	0	0	0	1	14601	262	10	2		2	SLC38A1	12	46633473	Silent	SNP	A	TCGA-KN-8432-01A-11D-2310-10	35347337	46633473	87218422	81	4621											
WNT1	7471	broad.mit.edu;hgsc.bcm.edu	37	chr12	49373357	49373365	+	In_Frame_Del	DEL	CTGATACGC	CTGATACGC	-																															tgagccgcaaacagcggcgtCtgatacgccaaaatccgggg																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	CTGATACGC	CTGATACGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:49373357_49373365delCTGATACGC	ENST00000293549.3	+	2	247_255	c.211_219delCTGATACGC	c.(211-219)ctgatacgcdel	p.LIR71del		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	71					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)		ACAGCGGCGTCTGATACGCCAAAATCCGG	0.603																																						.											0																																										SO:0001651	inframe_deletion	7471			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.211_219delCTGATACGC	12.37:g.49373357_49373365delCTGATACGC	ENSP00000293549:p.Leu71_Arg73del		Q5U0N2	In_Frame_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																				0.603	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			-	49373365	CTGATACGC	-	49373357	7	5	47	1	0	1	0	1	0	0	0	0	17378	912	32	0	217	0	WNT1	12	49373357	In_Frame_Del	DEL	CTGATACGC	TCGA-KN-8432-01A-11D-2310-10	2739884	49373357	84478538	82	4622	114	2									
WNT1	7471	bcgsc.ca	37	chr12	49373358	49373366	+	In_Frame_Del	DEL	CTGATACGC	CTGATACGC	-																															gagccgcaaacagcggcgtcTgatacgccaaaatccgggga																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	CTGATACGC	CTGATACGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:49373358_49373366delCTGATACGC	ENST00000293549.3	+	2	248_256	c.212_220delCTGATACGC	c.(211-222)cctgatacgcaa>caa	p.PDT71del		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	71					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)		CAGCGGCGTCTGATACGCCAAAATCCGGG	0.608																																						.											0																																										SO:0001651	inframe_deletion	7471			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.212_220delCTGATACGC	12.37:g.49373358_49373366delCTGATACGC	ENSP00000293549:p.Pro71_Thr73del		Q5U0N2	In_Frame_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																				0.608	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			-	49373366	CTGATACGC	-	49373358	7	5	47	1	0	1	0	1	0	0	0	0	17378	1580	55	0	218	0	WNT1	12	49373358	In_Frame_Del	DEL	CTGATACGC	TCGA-KN-8432-01A-11D-2310-10	1	49373358	84478537	83	4623	114	2									
KRT6B	3854	mdanderson.org	37	chr12	52845665	52845665	+	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	ccaatggagatcctcttggaGccccccaggccatacagact	10	7	9	15	0	1	2	0	0	1	2	2	4	2	3	6	3	2	0	6	3	2	2	rs141114189		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:52845665G>T	ENST00000252252.3	-	1	245	c.198C>A	c.(196-198)ggC>ggA	p.G66G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	66	Head.				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)		TCCTCTTGGAGCCCCCCAGGC	0.657																																						.											0													21	24	23					12																	52845665		1932	3915	5847	SO:0001819	synonymous_variant	3854			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.198C>A	12.37:g.52845665G>T			P48669	Silent	SNP	ENST00000252252.3	37	CCDS8828.1																																																																																				0.657	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		T	52845665	G	T	52845665	2	4	47	1	0	0	0	0	0	0	0	1	8481	958	34	5		5	KRT6B	12	52845665	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	3472307	52845665	81006230	84	4624											
N4BP2L2	10443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr13	33016882	33016882	+	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	agataaattatgtagcacaaAagaaggaatataatttttgt	19	13	7	2	0	0	2	0	0	0	2	0	3	0	3	0	1	1	2	0	1	10	7			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr13:33016882A>C	ENST00000504114.1	-	6	1838	c.1747T>G	c.(1747-1749)Ttt>Gtt	p.F583V	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.F598V|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.F583V|N4BP2L2_ENST00000380121.3_5'UTR			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	33					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGTAGCACAAAAGAAGGAATA	0.323																																						.											0													33	34	34					13																	33016882		1820	4072	5892	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1747T>G	13.37:g.33016882A>C	ENSP00000427477:p.Phe583Val		A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	A	10.17	1.275345	0.23307	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	4.19	2.34	0.29019	.	0.431030	0.19579	N	0.110903	T	0.22399	0.0540	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.004;0.004;0.002;0.002	B;B;B;B	0.11329	0.004;0.004;0.006;0.006	T	0.21314	-1.0249	9	0.72032	D	0.01	-1.6649	8.8591	0.35247	0.1856:0.0:0.8144:0.0	.	583;598;481;481	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	V	481;510;583;583;598	.	ENSP00000350104:F583V	F	-	1	0	N4BP2L2;RP11-298P3.4	31914882	0.609000	0.26975	0.004000	0.12327	0.032000	0.12392	1.209000	0.32357	0.476000	0.27440	-0.345000	0.07892	TTT		0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		C	33016882	A	C	33016882	3	2	47	1	0	0	0	0	1	0	0	0	10112	14	1	5	478	5	N4BP2L2	13	33016882	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		33016882	82152996	85	4625											
EPSTI1	94240	ucsc.edu;bcgsc.ca	37	chr13	43469222	43469222	+	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	ttgacttttgccttggagtcGgtccagaaaagcattattta	10	15	9	7	1	0	2	0	1	0	1	2	3	1	3	2	2	2	1	2	2	4	7	rs201385523		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr13:43469222G>A	ENST00000398762.3	-	11	870	c.871C>T	c.(871-873)Cga>Tga	p.R291*	EPSTI1_ENST00000313640.7_Nonsense_Mutation_p.R291*|EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.R280*			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	291										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CCTTGGAGTCGGTCCAGAAAA	0.413																																						.											0								G	stop/ARG,stop/ARG	0,4406		0,0,2203	62	60	60		871,838	5.7	1	13		60	2,8598	3.0+/-9.4	0,2,4298	yes	stop-gained,stop-gained	EPSTI1	NM_001002264.1,NM_033255.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	291/411,280/308	43469222	2,13004	2203	4300	6503	SO:0001587	stop_gained	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.871C>T	13.37:g.43469222G>A	ENSP00000381746:p.Arg291*		Q8IVC7|Q8NDQ7	Nonsense_Mutation	SNP	ENST00000398762.3	37	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.895090	0.91962	0.0	2.33E-4	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	.	.	.	5.71	5.71	0.89125	.	0.195514	0.32884	N	0.005535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6042	12.3473	0.55128	0.0:0.0:0.8316:0.1684	.	.	.	.	X	291;280;291	.	ENSP00000318643:R280X	R	-	1	2	EPSTI1	42367222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.439000	0.44846	2.691000	0.91804	0.561000	0.74099	CGA		0.413	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		A	43469222	G	A	43469222	4	1	47	1	0	0	0	0	0	1	0	0	5198	1124	39	1	373	1	EPSTI1	13	43469222	Nonsense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	10452340	43469222	71700656	86	4626											
PCDH8	5100	broad.mit.edu	37	chr13	53420463	53420465	+	In_Frame_Del	DEL	GGT	GGT	-																															accacgaagctgacagttgcGgtggtggtgagcgggggacg																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr13:53420463_53420465delGGT	ENST00000377942.3	-	1	2310_2312	c.2107_2109delACC	c.(2107-2109)accdel	p.T703del	PCDH8_ENST00000338862.4_In_Frame_Del_p.T703del	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	703	Cadherin 6. {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)		TGACAGTTGCGGTGGTGGTGAGC	0.714																																					GBM(36;25 841 9273 49207)	.											0																																										SO:0001651	inframe_deletion	5100			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.2107_2109delACC	13.37:g.53420469_53420471delGGT	ENSP00000367177:p.Thr703del		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	In_Frame_Del	DEL	ENST00000377942.3	37	CCDS9438.1																																																																																				0.714	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		-	53420465	GGT	-	53420463	7	5	47	1	0	1	0	1	0	0	0	0	11517	1103	39	0	1115	0	PCDH8	13	53420463	In_Frame_Del	DEL	GGT	TCGA-KN-8432-01A-11D-2310-10	9951241	53420463	61749415	87	4627											
ESR2	2100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	64727212	64727212	+	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	catgtgtaccaactccttgtCggccaacttggtcagggaca	9	10	10	12	1	1	0	1	0	0	0	3	1	2	1	3	3	3	1	3	3	3	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:64727212C>T	ENST00000341099.4	-	5	1324	c.907G>A	c.(907-909)Gac>Aac	p.D303N	ESR2_ENST00000353772.3_Missense_Mutation_p.D303N|ESR2_ENST00000542956.1_Missense_Mutation_p.D303N|ESR2_ENST00000358599.5_Missense_Mutation_p.D303N|ESR2_ENST00000553796.1_Missense_Mutation_p.D303N|ESR2_ENST00000357782.2_Missense_Mutation_p.D303N|ESR2_ENST00000557772.1_Missense_Mutation_p.D303N|ESR2_ENST00000554572.1_Missense_Mutation_p.D303N|ESR2_ENST00000555278.1_Missense_Mutation_p.D303N|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.D303N	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	303	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AACTCCTTGTCGGCCAACTTG	0.582																																						.											0													102	103	103					14																	64727212		2203	4300	6503	SO:0001583	missense	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.907G>A	14.37:g.64727212C>T	ENSP00000343925:p.Asp303Asn		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714190	0.96830	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;T	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;0.62	5.83	5.83	0.93111	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98302	0.9437	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.97110	1.0;0.999;0.972;0.883;0.984	D	0.98691	1.0696	10	0.72032	D	0.01	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	303;303;303;303;303	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	N	303	ENSP00000452485:D303N;ENSP00000441792:D303N;ENSP00000450699:D303N;ENSP00000335551:D303N;ENSP00000351412:D303N;ENSP00000450488:D303N;ENSP00000452426:D303N;ENSP00000350427:D303N;ENSP00000451582:D303N;ENSP00000343925:D303N;ENSP00000267525:D303N	ENSP00000267525:D303N	D	-	1	0	ESR2	63796965	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	7.726000	0.84824	2.763000	0.94921	0.563000	0.77884	GAC		0.582	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64727212	C	T	64727212	3	4	47	1	0	0	0	0	1	0	0	0	5257	884	31	1	791	1	ESR2	14	64727212	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10		64727212	42622328	88	4628											
C14orf115	55237	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr14	74824716	74824716	+	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	cgggccaagttgtacctggaGcattgcatctccctgaacac	9	9	10	13	1	1	1	0	1	1	0	2	2	1	2	3	2	4	4	3	2	3	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:74824716G>C	ENST00000256362.4	+	2	1471	c.1230G>C	c.(1228-1230)gaG>gaC	p.E410D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	410					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						TGTACCTGGAGCATTGCATCT	0.577																																						.											0													116	103	108					14																	74824716		2203	4300	6503	SO:0001583	missense	55237			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.1230G>C	14.37:g.74824716G>C	ENSP00000256362:p.Glu410Asp		Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273359	0.59649	.	.	ENSG00000133980	ENST00000256362	T	0.50001	0.76	4.59	4.59	0.56863	.	0.072575	0.56097	D	0.000031	T	0.48169	0.1485	L	0.27053	0.805	0.31311	N	0.687184	D	0.67145	0.996	P	0.58266	0.836	T	0.54603	-0.8269	10	0.62326	D	0.03	-6.1439	10.3686	0.44039	0.09:0.0:0.91:0.0	.	410	Q9H8Y1	VRTN_HUMAN	D	410	ENSP00000256362:E410D	ENSP00000256362:E410D	E	+	3	2	VRTN	73894469	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.475000	0.35409	2.371000	0.80710	0.561000	0.74099	GAG		0.577	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		C	74824716	G	C	74824716	3	2	47	1	0	0	0	0	1	0	0	0	1740	962	34	5	1232	5	C14orf115	14	74824716	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	10097504	74824716	32524824	89	4629											
KIAA0284	283638	broad.mit.edu	37	chr14	105359440	105359440	+	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	ccctcagcaacatgcccagcAcccccgcctcgaccatctct	8	6	5	22	2	2	0	1	0	1	0	4	1	2	0	6	0	4	2	6	0	1	0			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:105359440A>C	ENST00000414716.3	+	14	4234	c.4006A>C	c.(4006-4008)Acc>Ccc	p.T1336P	CEP170B_ENST00000418279.1_Missense_Mutation_p.T1266P|CEP170B_ENST00000453495.1_Missense_Mutation_p.T1372P|CEP170B_ENST00000556508.1_Missense_Mutation_p.T1301P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1371						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CATGCCCAGCACCCCCGCCTC	0.687																																						.											0													16	25	22					14																	105359440		2084	4203	6287	SO:0001583	missense	283638			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.4006A>C	14.37:g.105359440A>C	ENSP00000404151:p.Thr1336Pro		Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559308	0.65538	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.56103	0.5;0.62;0.48;0.63	4.45	3.25	0.37280	.	0.337000	0.26919	N	0.021828	T	0.57844	0.2081	M	0.71581	2.175	0.36088	D	0.843223	P;P;B	0.43169	0.776;0.8;0.429	P;B;B	0.47626	0.552;0.261;0.326	T	0.67122	-0.5750	10	0.87932	D	0	-24.8257	10.0086	0.41972	0.8482:0.0:0.0:0.1518	.	1336;1371;1266	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	P	1301;1336;1372;1266;4	ENSP00000451249:T1301P;ENSP00000404151:T1336P;ENSP00000407238:T1372P;ENSP00000415006:T1266P	ENSP00000404151:T1336P	T	+	1	0	KIAA0284	104430485	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.006000	0.57083	0.527000	0.28560	0.347000	0.21830	ACC		0.687	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		C	105359440	A	C	105359440	3	2	47	1	0	0	0	0	1	0	0	0	8166	159	6	5	4056	5	KIAA0284	14	105359440	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	30534724	105359440	1990100	90	4630											
EIF2AK4	440275	ucsc.edu	37	chr15	40235659	40235659	+	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	ttgttaaaatctcgcctagaAgaactggccaagaaacactg	15	9	8	9	1	1	3	0	0	1	3	2	3	1	3	2	1	2	1	2	1	7	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:40235659A>G	ENST00000263791.5	+	3	376	c.333A>G	c.(331-333)gaA>gaG	p.E111E	EIF2AK4_ENST00000559624.1_Silent_p.E111E|EIF2AK4_ENST00000382727.2_Silent_p.E111E|EIF2AK4_ENST00000560648.1_Silent_p.E111E	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	111	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				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)		CTCGCCTAGAAGAACTGGCCA	0.338																																						.											0													108	104	105					15																	40235659		1818	4085	5903	SO:0001819	synonymous_variant	440275			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.333A>G	15.37:g.40235659A>G			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	CCDS42016.1																																																																																				0.338	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			G	40235659	A	G	40235659	2	3	47	1	0	0	0	0	0	0	0	1	4999	69	3	2		2	EIF2AK4	15	40235659	Silent	SNP	A	TCGA-KN-8432-01A-11D-2310-10		40235659	62295733	91	4631											
SQRDL	58472	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr15	45954211	45954211	+	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	tggtgccaaacaattgtcctCatctggtcgtcccacggcaa	9	10	9	13	2	2	0	1	0	1	0	5	0	4	0	3	3	2	1	3	3	3	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:45954211C>T	ENST00000260324.7	+	3	679	c.293C>T	c.(292-294)tCa>tTa	p.S98L	SQRDL_ENST00000568606.1_Missense_Mutation_p.S98L|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.S98L	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	98					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)		CAATTGTCCTCATCTGGTCGT	0.443																																						.											0													115	94	101					15																	45954211		2198	4297	6495	SO:0001583	missense	58472			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.293C>T	15.37:g.45954211C>T	ENSP00000260324:p.Ser98Leu		Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610024	0.14066	.	.	ENSG00000137767	ENST00000260324	T	0.50277	0.75	5.52	2.58	0.30949	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.422413	0.26646	N	0.023238	T	0.39835	0.1093	M	0.71581	2.175	0.18873	N	0.999982	B	0.06786	0.001	B	0.13407	0.009	T	0.37361	-0.9709	10	0.37606	T	0.19	.	2.3248	0.04220	0.1332:0.5191:0.1299:0.2178	.	98	Q9Y6N5	SQRD_HUMAN	L	98	ENSP00000260324:S98L	ENSP00000260324:S98L	S	+	2	0	SQRDL	43741503	0.001000	0.12720	0.280000	0.24747	0.020000	0.10135	1.158000	0.31737	0.277000	0.22141	-0.140000	0.14226	TCA		0.443	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			T	45954211	C	T	45954211	3	4	47	1	0	0	0	0	1	0	0	0	15128	838	29	4	299	4	SQRDL	15	45954211	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	5718552	45954211	56577181	92	4632											
TRPM7	54822	broad.mit.edu;mdanderson.org	37	chr15	50884111	50884111	+	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	gaatttgccaaacttacctaCaaatgctccaaattctgtat	14	13	4	10	0	1	0	0	0	1	0	2	1	2	0	3	0	5	2	3	0	7	5			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:50884111C>T	ENST00000313478.7	-	26	4602	c.4321G>A	c.(4321-4323)Gta>Ata	p.V1441I	TRPM7_ENST00000560955.1_Missense_Mutation_p.V1441I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1441					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AACTTACCTACAAATGCTCCA	0.318																																						.											0													74	69	71					15																	50884111		1799	4066	5865	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4321G>A	15.37:g.50884111C>T	ENSP00000320239:p.Val1441Ile		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081246	0.55753	.	.	ENSG00000092439	ENST00000313478	T	0.56611	0.45	5.91	4.05	0.47172	.	0.337756	0.27315	N	0.019932	T	0.37237	0.0996	N	0.24115	0.695	0.44668	D	0.997658	B	0.27229	0.172	B	0.25140	0.058	T	0.09840	-1.0656	10	0.27082	T	0.32	.	12.4344	0.55590	0.0:0.8654:0.0:0.1346	.	1441	Q96QT4	TRPM7_HUMAN	I	1441	ENSP00000320239:V1441I	ENSP00000320239:V1441I	V	-	1	0	TRPM7	48671403	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.988000	0.56951	0.861000	0.35504	-0.259000	0.10710	GTA		0.318	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		T	50884111	C	T	50884111	3	4	47	1	0	0	0	0	1	0	0	0	16588	478	17	4	1332	4	TRPM7	15	50884111	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	4929900	50884111	51647281	93	4633											
SLTM	79811	mdanderson.org	37	chr15	59191919	59191919	+	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	gcttcagaatctgtaattttCacatttttacctgtttctag	9	19	5	8	0	4	1	2	0	2	1	4	1	4	1	1	0	1	3	1	0	4	9			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:59191919C>A	ENST00000380516.2	-	7	894	c.807G>T	c.(805-807)gtG>gtT	p.V269V	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	269					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						CTGTAATTTTCACATTTTTAC	0.453																																						.											0													157	147	150					15																	59191919		2192	4292	6484	SO:0001819	synonymous_variant	79811			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.807G>T	15.37:g.59191919C>A			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	CCDS10168.2																																																																																				0.453	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		A	59191919	C	A	59191919	2	1	47	1	0	0	0	0	0	0	0	1	14754	813	29	5		5	SLTM	15	59191919	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	8307808	59191919	43339473	94	4634											
CD276	80381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	73995325	73995325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcacagcatcctgcgggtgGtgctgggtgcaaatggcacc	7	8	15	11	1	0	0	0	0	0	0	1	0	1	0	2	4	5	5	2	4	1	0			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:73995325G>T	ENST00000318443.5	+	4	933	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	CD276_ENST00000537340.2_Missense_Mutation_p.V65L|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.V211L	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	211	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						CCTGCGGGTGGTGCTGGGTGC	0.632																																						.											0													97	78	85					15																	73995325		2198	4297	6495	SO:0001583	missense	80381			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.631G>T	15.37:g.73995325G>T	ENSP00000320084:p.Val211Leu		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362837	0.11296	.	.	ENSG00000103855	ENST00000318443;ENST00000379823;ENST00000537340	T;T	0.76709	-1.04;-1.04	3.29	1.34	0.21922	Immunoglobulin subtype 2 (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56156	0.1966	N	0.13235	0.315	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.002	T	0.48490	-0.9031	9	0.41790	T	0.15	.	4.3949	0.11358	0.3111:0.177:0.5119:0.0	.	157;211;211	B4DK26;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	L	211;211;65	ENSP00000320084:V211L;ENSP00000441087:V65L	ENSP00000320084:V211L	V	+	1	0	CD276	71782378	0.996000	0.38824	1.000000	0.80357	0.135000	0.20990	0.346000	0.19997	0.712000	0.32039	0.313000	0.20887	GTG		0.632	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		T	73995325	G	T	73995325	3	4	47	1	0	0	0	0	1	0	0	0	2992	1261	44	5	641	5	CD276	15	73995325	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	14803406	73995325	28536067	95	4635											
ZNF592	9640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	85334093	85334093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggagaattgcctgcactAtgcccgcaaggtgggctaca	12	7	12	10	1	0	1	0	0	0	1	0	2	0	1	2	3	4	3	2	3	5	3	rs370083133		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:85334093A>G	ENST00000560079.2	+	5	2666	c.2378A>G	c.(2377-2379)tAt>tGt	p.Y793C	ZNF592_ENST00000299927.3_Missense_Mutation_p.Y793C	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	793					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)			TGCCTGCACTATGCCCGCAAG	0.562																																						.											0								A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	102	86	92		2378	5.6	1	15		92	0,8598		0,0,4299	no	missense	ZNF592	NM_014630.2	194	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	793/1268	85334093	1,13003	2203	4299	6502	SO:0001583	missense	9640			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.2378A>G	15.37:g.85334093A>G	ENSP00000452877:p.Tyr793Cys		Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198225	0.79015	2.27E-4	0.0	ENSG00000166716	ENST00000299927	T	0.03035	4.07	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	L	0.52011	1.625	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.00300	-1.1835	10	0.72032	D	0.01	-16.0348	13.7682	0.63008	1.0:0.0:0.0:0.0	.	793	Q92610	ZN592_HUMAN	C	793	ENSP00000299927:Y793C	ENSP00000299927:Y793C	Y	+	2	0	ZNF592	83135097	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.104000	0.64584	2.138000	0.66242	0.460000	0.39030	TAT		0.562	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		G	85334093	A	G	85334093	3	3	47	1	0	0	0	0	1	0	0	0	18019	449	16	4	2384	4	ZNF592	15	85334093	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	11338768	85334093	17197299	96	4636											
SOX8	30812	ucsc.edu	37	chr16	1034902	1034902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgacgtccacgagttcgAccagtacctgcccctgggcg	6	8	11	16	5	0	0	0	0	0	0	3	3	1	0	5	1	2	2	5	1	1	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:1034902A>G	ENST00000293894.3	+	3	972	c.857A>G	c.(856-858)gAc>gGc	p.D286G		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	286					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)				CACGAGTTCGACCAGTACCTG	0.692																																						.											0													24	24	24					16																	1034902		2194	4295	6489	SO:0001583	missense	30812			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.857A>G	16.37:g.1034902A>G	ENSP00000293894:p.Asp286Gly		Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096470	0.76870	.	.	ENSG00000005513	ENST00000293894	T	0.79033	-1.23	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91611	0.5303	10	0.62326	D	0.03	.	12.6002	0.56492	1.0:0.0:0.0:0.0	.	286	P57073	SOX8_HUMAN	G	286	ENSP00000293894:D286G	ENSP00000293894:D286G	D	+	2	0	SOX8	974903	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.015000	0.76387	1.751000	0.51876	0.529000	0.55759	GAC		0.692	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			G	1034902	A	G	1034902	3	3	47	1	0	0	0	0	1	0	0	0	14957	275	10	2	867	2	SOX8	16	1034902	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		1034902	89319851	97	4637											
ARL6IP1	23204	hgsc.bcm.edu	37	chr16	18806888	18806888	+	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	caaatttcatggaatctttgCtgttgttcagtggtcctaga	9	16	9	7	0	3	1	2	0	1	1	4	2	4	2	1	2	1	3	1	2	3	5	rs201647214		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:18806888C>T	ENST00000304414.7	-	4	517	c.306G>A	c.(304-306)caG>caA	p.Q102Q	RP11-1035H13.3_ENST00000567078.2_Silent_p.Q102Q|ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Silent_p.Q73Q	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	102					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GGAATCTTTGCTGTTGTTCAG	0.383																																						.											0													77	69	72					16																	18806888		2197	4300	6497	SO:0001819	synonymous_variant	23204			BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"ADP-ribosylation factor-like 6 interacting protein"	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.306G>A	16.37:g.18806888C>T				Silent	SNP	ENST00000304414.7	37	CCDS10572.1																																																																																				0.383	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161		T	18806888	C	T	18806888	2	4	47	1	0	0	0	0	0	0	0	1	942	796	28	4		4	ARL6IP1	16	18806888	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	17771986	18806888	71547865	98	4638											
NLRC5	84166	ucsc.edu;bcgsc.ca	37	chr16	57057697	57057697	+	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	cccttcctttgctttttcagGcctgaagcgcccacatcaga	7	12	7	15	1	2	2	2	1	0	1	3	2	3	2	4	1	2	1	4	1	1	4			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:57057697G>T	ENST00000262510.6	+	5	581	c.356G>T	c.(355-357)gGc>gTc	p.G119V	NLRC5_ENST00000308149.7_Splice_Site_p.G119V|NLRC5_ENST00000539144.1_Splice_Site_p.G119V|NLRC5_ENST00000436936.1_Splice_Site_p.G119V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	119					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTTTTTCAGGCCTGAAGCGC	0.592																																						.											0													44	40	41					16																	57057697		2198	4300	6498	SO:0001630	splice_region_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.356-1G>T	16.37:g.57057697G>T			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564515	0.27915	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.75050	-0.7;-0.71;-0.9;-0.71	4.62	2.64	0.31445	.	0.000000	0.33005	N	0.005397	T	0.64034	0.2562	L	0.56769	1.78	0.45995	D	0.998801	B	0.26195	0.144	B	0.20955	0.032	T	0.54951	-0.8216	9	.	.	.	.	6.2817	0.21011	0.1009:0.1866:0.7125:0.0	.	119	Q86WI3	NLRC5_HUMAN	V	119	ENSP00000262510:G119V;ENSP00000308886:G119V;ENSP00000389739:G119V;ENSP00000441727:G119V	.	G	+	2	0	NLRC5	55615198	0.743000	0.28239	0.804000	0.32291	0.857000	0.48899	0.785000	0.26830	0.557000	0.29117	0.557000	0.71058	GGC		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	Missense_Mutation	T	57057697	G	T	57057697	5	4	47	1	0	0	0	0	0	0	1	0	10470	1217	42	5	366	5	NLRC5	16	57057697	Splice_Site	SNP	G	TCGA-KN-8432-01A-11D-2310-10	38250809	57057697	33297056	99	4639											
CALB2	794	broad.mit.edu;ucsc.edu	37	chr16	71419536	71419536	+	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	gcccttttgaaggatctgtaCgagaaaaacaaaaaggtgag	16	8	11	6	1	1	3	0	2	1	1	1	5	1	4	1	2	2	1	1	2	6	3	rs139080757		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:71419536C>T	ENST00000302628.4	+	10	761	c.684C>T	c.(682-684)taC>taT	p.Y228Y	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	228	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGGATCTGTACGAGAAAAACA	0.577																																						.											0								C	,	1,4395		0,1,2197	51	47	48		684,	-4.6	0.8	16	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3	CALB2	NM_001740.4,NM_007088.3	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	228/272,	71419536	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.684C>T	16.37:g.71419536C>T			A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	CCDS10899.1																																																																																				0.577	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		T	71419536	C	T	71419536	2	4	47	1	0	0	0	0	0	0	0	1	2574	547	19	1		1	CALB2	16	71419536	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	14361839	71419536	18935217	100	4640											
FANCA	2175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	89838101	89838101	+	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	cctaccatgtgttcccgtggCtccagtctcggcgtgttgat	4	13	11	13	3	1	1	0	1	1	0	4	1	3	1	4	2	1	3	4	2	1	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:89838101C>T	ENST00000389301.3	-	23	2166	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Silent_p.E712E	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	712					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)		GTTCCCGTGGCTCCAGTCTCG	0.517			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													172	142	152					16																	89838101		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	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.2136G>A	16.37:g.89838101C>T			A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	CCDS32515.1																																																																																				0.517	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89838101	C	T	89838101	2	4	47	1	0	0	0	0	0	0	0	1	5662	796	28	4		4	FANCA	16	89838101	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	18418565	89838101	516652	101	4641											
SUPT6H	6830	hgsc.bcm.edu;bcgsc.ca	37	chr17	27028052	27028052	+	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	gccagcccatcaccacccctCagtaccaccagctccaggcc	9	4	6	22	0	2	0	2	0	0	0	3	0	3	0	9	1	3	2	9	1	1	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:27028052C>T	ENST00000314616.6	+	36	5183	c.4900C>T	c.(4900-4902)Cag>Tag	p.Q1634*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1634*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1634	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)					CACCACCCCTCAGTACCACCA	0.642																																						.											0													185	172	176					17																	27028052		2203	4300	6503	SO:0001587	stop_gained	6830			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.4900C>T	17.37:g.27028052C>T	ENSP00000319104:p.Gln1634*		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	46	12.401632	0.99664	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7182	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	X	1634;634	.	ENSP00000319104:Q1634X	Q	+	1	0	SUPT6H	24052179	1.000000	0.71417	0.988000	0.46212	0.899000	0.52679	7.209000	0.77916	2.465000	0.83290	0.650000	0.86243	CAG		0.642	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		T	27028052	C	T	27028052	4	4	47	1	0	0	0	0	0	1	0	0	15397	827	29	4	5038	4	SUPT6H	17	27028052	Nonsense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10		27028052	54167158	102	4642											
ERBB2	2064	bcgsc.ca	37	chr17	37881117	37881117	+	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	atgtccgggaaaaccgcggaCgcctgggctcccaggacctg	8	5	14	14	4	0	0	0	0	0	0	2	3	2	3	5	4	1	1	5	4	2	0	rs542027040		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:37881117C>T	ENST00000269571.5	+	20	2605	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	ERBB2_ENST00000584450.1_Missense_Mutation_p.R816C|ERBB2_ENST00000406381.2_Missense_Mutation_p.R786C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R786C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R540C|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.R786C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R801C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AAACCGCGGACGCCTGGGCTC	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			C|||	1	0.000199681	0	0	5008	,	,		18540	0		0	False		,,,				2504	0.001					.		Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													55	54	54					17																	37881117		2203	4300	6503	SO:0001583	missense	2064			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.2446C>T	17.37:g.37881117C>T	ENSP00000269571:p.Arg816Cys		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181207	0.38511	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.15	4.14	0.48551	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.89033	0.6600	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.974;0.987;0.974	D	0.89754	0.3942	9	0.62326	D	0.03	.	14.6498	0.68789	0.1461:0.8539:0.0:0.0	.	540;801;816	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	C	786;801;540;816;786	ENSP00000385185:R786C;ENSP00000446466:R801C;ENSP00000404047:R540C;ENSP00000269571:R816C;ENSP00000443562:R786C	ENSP00000269571:R816C	R	+	1	0	ERBB2	35134643	0.730000	0.28100	0.949000	0.38748	0.972000	0.66771	0.936000	0.28938	2.397000	0.81536	0.563000	0.77884	CGC		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			T	37881117	C	T	37881117	3	4	47	1	0	0	0	0	1	0	0	0	5206	536	19	1	2524	1	ERBB2	17	37881117	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	10853065	37881117	43314093	103	4643											
RAPGEFL1	51195	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr17	38346943	38346943	+	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	ctggagacacagagatccacCgagtggagcctgaggacgtt	11	6	14	10	2	0	3	0	1	0	2	1	8	1	5	3	3	1	1	3	3	0	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:38346943C>T	ENST00000456989.2	+	8	857	c.811C>T	c.(811-813)Cga>Tga	p.R271*	RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Nonsense_Mutation_p.R265*|RAPGEFL1_ENST00000264644.6_Nonsense_Mutation_p.R216*|RAPGEFL1_ENST00000436615.3_Nonsense_Mutation_p.R216*			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	422					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGAGATCCACCGAGTGGAGCC	0.647																																					Esophageal Squamous(28;274 750 6870 14218 42203)	.											0													132	115	121					17																	38346943		2203	4300	6503	SO:0001587	stop_gained	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.811C>T	17.37:g.38346943C>T	ENSP00000394530:p.Arg271*			Nonsense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	C	41	8.578792	0.98870	.	.	ENSG00000108352	ENST00000456989;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	.	.	.	5.31	5.31	0.75309	.	0.402136	0.23380	N	0.048804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	13.1138	0.59289	0.1606:0.8394:0.0:0.0	.	.	.	.	X	271;265;216;421;216	.	ENSP00000264644:R421X	R	+	1	2	RAPGEFL1	35600469	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.201000	0.58439	2.635000	0.89317	0.591000	0.81541	CGA		0.647	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		T	38346943	C	T	38346943	4	4	47	1	0	0	0	0	0	1	0	0	13049	644	23	1	668	1	RAPGEFL1	17	38346943	Nonsense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	465826	38346943	42848267	104	4644											
STAT5B	6777	broad.mit.edu	37	chr17	40364022	40364022	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgaactgggaccaggAcacagacaggccactgtagt	11	7	12	11	0	0	2	0	1	0	1	0	4	0	4	3	3	1	2	3	3	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:40364022A>G	ENST00000293328.3	-	13	1828	c.1660T>C	c.(1660-1662)Tcc>Ccc	p.S554P		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	554					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGGACCAGGACACAGACAGG	0.607																																						.											0													63	50	54					17																	40364022		2203	4300	6503	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1660T>C	17.37:g.40364022A>G	ENSP00000293328:p.Ser554Pro		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128074	0.77549	.	.	ENSG00000173757	ENST00000293328	D	0.88664	-2.41	5.42	5.42	0.78866	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.095971	0.64402	D	0.000001	D	0.91935	0.7446	L	0.45422	1.42	0.52501	D	0.999959	D	0.64830	0.994	D	0.71184	0.972	D	0.92839	0.6287	10	0.87932	D	0	-3.9242	15.6229	0.76820	1.0:0.0:0.0:0.0	.	554	P51692	STA5B_HUMAN	P	554	ENSP00000293328:S554P	ENSP00000293328:S554P	S	-	1	0	STAT5B	37617548	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.667000	0.68067	2.279000	0.76181	0.402000	0.26972	TCC		0.607	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		G	40364022	A	G	40364022	3	3	47	1	0	0	0	0	1	0	0	0	15268	275	10	2	731	2	STAT5B	17	40364022	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10	2017079	40364022	40831188	105	4645											
SCN4A	6329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	62021160	62021160	+	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	gagccaagcttcttcatggcGttatagtatttcttctgttc	7	17	8	9	1	4	0	1	0	3	0	5	1	4	0	1	1	2	4	1	1	4	8			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:62021160G>A	ENST00000435607.1	-	22	4039	c.3963C>T	c.(3961-3963)aaC>aaT	p.N1321N	SCN4A_ENST00000578147.1_Silent_p.N1321N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1321					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCATGGCGTTATAGTATT	0.547																																						.											0													98	99	99					17																	62021160		2157	4294	6451	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3963C>T	17.37:g.62021160G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																				0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		A	62021160	G	A	62021160	2	1	47	1	0	0	0	0	0	0	0	1	13920	1136	40	1		1	SCN4A	17	62021160	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	21657138	62021160	19174050	106	4646											
CCDC137	339230	broad.mit.edu;bcgsc.ca	37	chr17	79633801	79633801	+	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	gcctcccggcgtggagatggCgggagctggtcgcggagcag	5	5	20	11	5	0	1	0	0	0	1	2	4	1	3	2	6	2	2	2	6	0	0			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:79633801C>T	ENST00000329214.8	+	1	408	c.5C>T	c.(4-6)gCg>gTg	p.A2V	OXLD1_ENST00000374741.3_5'Flank|OXLD1_ENST00000571503.1_5'Flank|OXLD1_ENST00000573786.1_5'Flank	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	2							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGGAGATGGCGGGAGCTGGT	0.716																																						.											0													15	23	20					17																	79633801		2120	4226	6346	SO:0001583	missense	339230			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.5C>T	17.37:g.79633801C>T	ENSP00000329360:p.Ala2Val			Missense_Mutation	SNP	ENST00000329214.8	37	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527202	0.44969	.	.	ENSG00000185298	ENST00000329214	T	0.22336	1.96	3.0	0.871	0.19107	.	0.877314	0.09590	N	0.781616	T	0.21718	0.0523	L	0.51422	1.61	0.22531	N	0.999019	D	0.63880	0.993	P	0.46452	0.517	T	0.19647	-1.0299	10	0.30078	T	0.28	.	7.5055	0.27542	0.4677:0.5323:0.0:0.0	.	2	Q6PK04	CC137_HUMAN	V	2	ENSP00000329360:A2V	ENSP00000329360:A2V	A	+	2	0	CCDC137	77244206	0.000000	0.05858	0.345000	0.25642	0.004000	0.04260	-2.213000	0.01224	0.269000	0.21961	-0.311000	0.09066	GCG		0.716	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			T	79633801	C	T	79633801	3	4	47	1	0	0	0	0	1	0	0	0	2771	768	27	1	7	1	CCDC137	17	79633801	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	17612641	79633801	1561409	107	4647											
KIAA1012	22878	broad.mit.edu	37	chr18	29450409	29450409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcaatgacaaatcagTcaacaaaagtagaactttca	20	7	5	9	0	3	2	3	1	0	1	3	2	3	2	1	0	3	2	1	0	8	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr18:29450409T>C	ENST00000283351.4	-	16	2649	c.2314A>G	c.(2314-2316)Act>Gct	p.T772A	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.T718A	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	772					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						GACAAATCAGTCAACAAAAGT	0.289																																						.											0													62	63	63					18																	29450409		2202	4297	6499	SO:0001583	missense	22878			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.2314A>G	18.37:g.29450409T>C	ENSP00000283351:p.Thr772Ala		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.803684	0.31869	.	.	ENSG00000153339	ENST00000283351	T	0.08282	3.11	5.98	4.8	0.61643	.	0.099720	0.64402	D	0.000001	T	0.09598	0.0236	L	0.45581	1.43	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.06162	-1.0842	10	0.42905	T	0.14	.	12.2287	0.54476	0.1311:0.0:0.0:0.8689	.	772	Q9Y2L5	TPPC8_HUMAN	A	772	ENSP00000283351:T772A	ENSP00000283351:T772A	T	-	1	0	TRAPPC8	27704407	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.958000	0.49145	1.042000	0.40150	0.528000	0.53228	ACT		0.289	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		C	29450409	T	C	29450409	3	2	47	1	0	0	0	0	1	0	0	0	8204	1667	58	2	2049	2	KIAA1012	18	29450409	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10		29450409	48626839	108	4648											
MALT1	10892	broad.mit.edu	37	chr18	56414969	56414969	+	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	gatgcatttatttcaagtttCgctcaccatgcttcatgtca	9	16	6	10	1	4	0	4	0	0	0	5	1	4	0	1	0	2	4	1	0	2	5	rs200126163		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr18:56414969C>T	ENST00000348428.3	+	17	2628	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.F779F	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	790					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						TTTCAAGTTTCGCTCACCATG	0.403			T	BIRC3	MALT								C|||	1	0.000199681	8e-04	0	5008	,	,		21654	0		0	False		,,,				2504	0					.		Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0								C	,	0,4406		0,0,2203	157	154	155		2370,2337	-7.5	0	18		155	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	MALT1	NM_006785.2,NM_173844.1	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	790/825,779/814	56414969	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10892				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.2370C>T	18.37:g.56414969C>T			Q9NTB7|Q9ULX4	Silent	SNP	ENST00000348428.3	37	CCDS11967.1																																																																																				0.403	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			T	56414969	C	T	56414969	2	4	47	1	0	0	0	0	0	0	0	1	9202	883	31	1		1	MALT1	18	56414969	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	26964560	56414969	21662279	109	4649											
ANGPTL4	51129	hgsc.bcm.edu;mdanderson.org	37	chr19	8429323	8429323	+	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	cgcgctttgcgtcctgggacGagatgaatgtcctggcgcac	6	9	14	12	5	0	2	0	1	0	1	2	4	2	3	2	2	1	2	2	2	1	1	rs116843064	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:8429323G>A	ENST00000301455.2	+	1	289	c.118G>A	c.(118-120)Gag>Aag	p.E40K	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.E40K	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	40			E -> K (associated with lower plasma levels of triglyceride and higher levels of HDL cholesterol; dbSNP:rs116843064). {ECO:0000269|PubMed:17322881}.		angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GTCCTGGGACGAGATGAATGT	0.721													g|||	47	0.00938498	0.003	0.0245	5008	,	,		12942	0		0.0258	False		,,,				2504	0					.											0			GRCh37	CM071551	ANGPTL4	M	rs116843064		LYS/GLU,LYS/GLU	4,4192		0,4,2094	7	5	6	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	118,118	4.9	1	19	dbSNP_132	6	132,8100		1,130,3985	yes	missense,missense	ANGPTL4	NM_001039667.1,NM_139314.1	56,56	1,134,6079	AA,AG,GG		1.6035,0.0953,1.0943	probably-damaging,probably-damaging	40/369,40/407	8429323	136,12292	2098	4116	6214	SO:0001583	missense	51129			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.118G>A	19.37:g.8429323G>A	ENSP00000301455:p.Glu40Lys		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	CCDS12200.1	33	0.01510989010989011	2	0.0040650406504065045	9	0.024861878453038673	0	0.0	22	0.029023746701846966	G	37	6.185911	0.97357	9.53E-4	0.016035	ENSG00000167772	ENST00000301455;ENST00000393962	T;T	0.60672	0.17;0.17	4.95	4.95	0.65309	.	0.244919	0.39210	U	0.001425	T	0.47600	0.1454	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.63033	0.91;0.91	T	0.66337	-0.5949	10	0.72032	D	0.01	.	15.7013	0.77544	0.0:0.0:1.0:0.0	.	40;40	A8MY84;Q9BY76	.;ANGL4_HUMAN	K	40	ENSP00000301455:E40K;ENSP00000377534:E40K	ENSP00000301455:E40K	E	+	1	0	ANGPTL4	8335323	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.344000	0.72991	2.295000	0.77249	0.486000	0.48141	GAG		0.721	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		A	8429323	G	A	8429323	3	1	47	1	0	0	0	0	1	0	0	0	616	1059	37	1	120	1	ANGPTL4	19	8429323	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10		8429323	50699660	110	4650											
RLN3	117579	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	14139176	14139176	+	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	gcgggggctcccggtggagaCgatcagacatcctggcccac	7	5	15	14	3	1	2	1	0	0	2	3	4	3	2	3	5	0	1	3	5	0	0			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:14139176C>T	ENST00000431365.2	+	1	217	c.160C>T	c.(160-162)Cga>Tga	p.R54*	RLN3_ENST00000585987.1_Nonsense_Mutation_p.R54*|CTB-55O6.4_ENST00000590528.1_RNA	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	54						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						CCGGTGGAGACGATCAGACAT	0.642																																						.											0													46	49	48					19																	14139176		2203	4299	6502	SO:0001587	stop_gained	117579			AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"Endogenous ligands"	17135	protein-coding gene	gene with protein product	"prorelaxin H3"	606855	"relaxin 3 (H3)"				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.160C>T	19.37:g.14139176C>T	ENSP00000397415:p.Arg54*		Q6UXW5	Nonsense_Mutation	SNP	ENST00000431365.2	37	CCDS12302.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029163	0.75504	.	.	ENSG00000171136	ENST00000431365	.	.	.	4.27	4.27	0.50696	.	0.128902	0.46442	D	0.000290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.5073	13.9885	0.64350	0.0:1.0:0.0:0.0	.	.	.	.	X	54	.	ENSP00000397415:R54X	R	+	1	2	RLN3	14000176	1.000000	0.71417	0.650000	0.29550	0.202000	0.24057	3.267000	0.51577	2.093000	0.63338	0.491000	0.48974	CGA		0.642	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1			T	14139176	C	T	14139176	4	4	47	1	0	0	0	0	0	1	0	0	13393	528	19	1	162	1	RLN3	19	14139176	Nonsense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	5709853	14139176	44989807	111	4651											
CAPNS1	826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	36632120	36632120	+	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	ggcggagtcatcagcgccatCaggtaaggcggagactatca	11	6	14	10	3	4	1	4	0	0	1	4	3	4	2	1	5	1	1	1	5	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:36632120C>T	ENST00000246533.3	+	2	805	c.207C>T	c.(205-207)atC>atT	p.I69I	CAPNS1_ENST00000588780.1_Silent_p.I69I|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.I69I|CAPNS1_ENST00000588815.1_Silent_p.I69I|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Silent_p.I69I	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	69					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)			TCAGCGCCATCAGGTAAGGCG	0.692																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	.											0													10	9	9					19																	36632120		2183	4282	6465	SO:0001819	synonymous_variant	826			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.207C>T	19.37:g.36632120C>T			A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																				0.692	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			T	36632120	C	T	36632120	2	4	47	1	0	0	0	0	0	0	0	1	2633	816	29	4		4	CAPNS1	19	36632120	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	22492944	36632120	22496863	112	4652											
KCNN4	3783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	44276195	44276195	+	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	cgatcttgccccacatggtgCccggcaccacgtcaccatag	8	7	9	17	3	2	0	1	0	1	0	2	1	2	0	5	2	2	1	5	2	1	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:44276195C>T	ENST00000262888.3	-	4	1171	c.776G>A	c.(775-777)gGc>gAc	p.G259D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	259					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCACATGGTGCCCGGCACCAC	0.572																																						.											0													150	114	126					19																	44276195		2203	4300	6503	SO:0001583	missense	3783			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.776G>A	19.37:g.44276195C>T	ENSP00000262888:p.Gly259Asp		Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972251	0.53614	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.23552	1.9	5.28	5.28	0.74379	Ion transport 2 (1);	0.399496	0.28125	N	0.016502	T	0.18551	0.0445	N	0.11756	0.17	0.46478	D	0.999061	D;D	0.53312	0.959;0.959	P;P	0.47251	0.542;0.542	T	0.01280	-1.1397	10	0.51188	T	0.08	-20.4112	10.2688	0.43470	0.0:0.9096:0.0:0.0904	.	153;259	D1MQ10;O15554	.;KCNN4_HUMAN	D	259;127	ENSP00000262888:G259D	ENSP00000262888:G259D	G	-	2	0	KCNN4	48968035	0.551000	0.26497	0.990000	0.47175	0.990000	0.78478	1.525000	0.35953	2.648000	0.89879	0.561000	0.74099	GGC		0.572	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		T	44276195	C	T	44276195	3	4	47	1	0	0	0	0	1	0	0	0	8081	739	26	3	527	3	KCNN4	19	44276195	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	7644075	44276195	14852788	113	4653											
NUCB1	4924	broad.mit.edu	37	chr19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-																															gctgcacatggagcagcggaAgcagcagcagcagcagcagc																										TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	AGC	AGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	NUCB1_ENST00000485798.1_3'UTR|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_In_Frame_Del_p.Q407del|NUCB1_ENST00000263273.5_In_Frame_Del_p.Q407del	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	407	Poly-Gln.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		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;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64																																						.											0																																										SO:0001651	inframe_deletion	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1199_1201delAGC	19.37:g.49425118_49425120delAGC	ENSP00000385923:p.Gln407del		B2RD64|Q15838|Q7Z4J7|Q9BUR1	In_Frame_Del	DEL	ENST00000405315.4	37	CCDS12740.1																																																																																				0.64	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		-	49425111	AGC	-	49425109	7	5	47	1	0	1	0	1	0	0	0	0	10718	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-KN-8432-01A-11D-2310-10	5148914	49425109	9703874	114	4654											
KIR2DL1	3811	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	55285024	55285024	+	Intron	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	cctacagatgctacggttctGttactcactccccctatcag	8	12	6	15	1	3	1	2	0	1	1	4	1	4	1	3	1	4	3	3	1	4	5			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:55285024G>C	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.V104L|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V104L|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTACGGTTCTGTTACTCACTC	0.532																																						.											0													272	244	254					19																	55285024		2177	4210	6387	SO:0001627	intron_variant	3802			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.35-43965G>C	19.37:g.55285024G>C			O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37		.	.	.	.	.	.	.	.	.	.	g	0.614	-0.823718	0.02755	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00717	5.79;5.79	1.24	-2.48	0.06423	.	.	.	.	.	T	0.00637	0.0021	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.51647	-0.8679	9	0.51188	T	0.08	.	1.1611	0.01806	0.1669:0.2905:0.3355:0.2071	.	104;104	Q6IST4;Q6H2H3	.;.	L	104	ENSP00000336769:V104L;ENSP00000291633:V104L	ENSP00000291633:V104L	V	+	1	0	KIR2DL1	59976836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.538000	0.00438	-4.634000	0.00038	-3.779000	0.00021	GTT		0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		C	55285024	G	C	55285024	1	2	47	0	1	0	0	0	0	0	0	0	8316	1377	48	5		5	KIR2DL1	19	55285024	Intron	SNP	G	TCGA-KN-8432-01A-11D-2310-10	5859915	55285024	3843959	115	4655											
ZNF264	9422	broad.mit.edu	37	chr19	57724079	57724079	+	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	atccacactggagagaagccCtataaatgtagtgaatgtgg	14	9	11	7	0	0	2	0	1	0	1	1	4	1	3	2	2	1	1	2	2	6	3			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:57724079C>T	ENST00000263095.6	+	4	2028	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P	ZNF264_ENST00000536056.1_Silent_p.P538P	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	538					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)		GAGAGAAGCCCTATAAATGTA	0.463																																						.											0													101	99	100					19																	57724079		2203	4300	6503	SO:0001819	synonymous_variant	9422			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.1614C>T	19.37:g.57724079C>T			A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	CCDS33127.1																																																																																				0.463	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			T	57724079	C	T	57724079	2	4	47	1	0	0	0	0	0	0	0	1	17801	668	24	4		4	ZNF264	19	57724079	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	2439055	57724079	1404904	116	4656											
SLA2	84174	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr20	35260999	35260999	+	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	tggcaccgagcttactcaccTctcctggtctggctctcccg	4	11	9	17	2	4	0	1	0	3	0	6	1	4	0	4	3	2	3	4	3	1	1			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr20:35260999T>A	ENST00000262866.4	-	5	803	c.381A>T	c.(379-381)agA>agT	p.R127S	SLA2_ENST00000360672.2_Splice_Site_p.R127S	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	127	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTTACTCACCTCTCCTGGTCT	0.597																																					Ovarian(59;720 1165 26994 46188 51693)	.											0													64	59	61					20																	35260999		2203	4300	6503	SO:0001630	splice_region_variant	84174			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.382+1A>T	20.37:g.35260999T>A			A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	ENST00000262866.4	37	CCDS13282.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227592	0.39399	.	.	ENSG00000101082	ENST00000262866;ENST00000360672	D;D	0.88277	-2.36;-2.36	4.53	4.53	0.55603	SH2 motif (5);	0.378993	0.26948	N	0.021691	D	0.82733	0.5101	N	0.17248	0.465	0.37013	D	0.895848	B;B	0.32382	0.368;0.167	B;B	0.42386	0.386;0.138	D	0.83450	0.0048	10	0.52906	T	0.07	-13.4373	7.4364	0.27158	0.1929:0.0:0.0:0.8071	.	127;127	Q9H6Q3;Q9H6Q3-2	SLAP2_HUMAN;.	S	127	ENSP00000262866:R127S;ENSP00000353890:R127S	ENSP00000262866:R127S	R	-	3	2	SLA2	34694413	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	4.214000	0.58527	1.898000	0.54952	0.459000	0.35465	AGA		0.597	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077	Missense_Mutation	A	35260999	T	A	35260999	5	1	47	1	0	0	0	0	0	0	1	0	14364	1565	54	5	420	5	SLA2	20	35260999	Splice_Site	SNP	T	TCGA-KN-8432-01A-11D-2310-10		35260999	27764521	117	4657											
DHX35	60625	broad.mit.edu	37	chr20	37621034	37621034	+	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	tgaagcccacgagaggacctTgtacactgacattgccattg	11	9	10	11	1	0	3	0	2	0	1	0	5	0	4	3	1	3	1	3	1	2	4	rs200532343		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr20:37621034T>G	ENST00000252011.3	+	7	581	c.548T>G	c.(547-549)tTg>tGg	p.L183W	DHX35_ENST00000373325.2_Missense_Mutation_p.L183W|DHX35_ENST00000373323.4_Missense_Mutation_p.L152W	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	183	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGAGGACCTTGTACACTGAC	0.413																																						.											0													229	204	213					20																	37621034		2203	4300	6503	SO:0001583	missense	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.548T>G	20.37:g.37621034T>G	ENSP00000252011:p.Leu183Trp		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700696	0.88924	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.72	5.72	0.89469	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	H	0.95151	3.63	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.96	T	0.59273	-0.7485	10	0.87932	D	0	.	15.6818	0.77376	0.0:0.0:0.0:1.0	.	152;183	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	W	183;183;152;148	ENSP00000362422:L183W;ENSP00000252011:L183W;ENSP00000362420:L152W;ENSP00000414630:L148W	ENSP00000252011:L183W	L	+	2	0	DHX35	37054448	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.825000	0.75293	2.174000	0.68829	0.533000	0.62120	TTG		0.413	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		G	37621034	T	G	37621034	3	3	47	1	0	0	0	0	1	0	0	0	4508	1821	63	5	574	5	DHX35	20	37621034	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	2360035	37621034	25404486	118	4658											
SULF2	55959	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr20	46313215	46313215	+	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	ccgacatgagggtctgcaagCgcttccgctggagcatgttg	7	9	14	11	3	1	1	0	1	1	0	2	3	2	2	2	2	3	5	2	2	1	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr20:46313215C>T	ENST00000359930.4	-	6	1699	c.848G>A	c.(847-849)cGc>cAc	p.R283H	SULF2_ENST00000467815.1_Missense_Mutation_p.R283H|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.R283H|SULF2_ENST00000361612.4_Missense_Mutation_p.R283H	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	283					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGTCTGCAAGCGCTTCCGCTG	0.627																																						.											0													122	91	102					20																	46313215		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.848G>A	20.37:g.46313215C>T	ENSP00000353007:p.Arg283His		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	c	35	5.558879	0.96514	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	4.76	4.76	0.60689	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.050148	0.85682	D	0.000000	D	0.99387	0.9784	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.927;0.991	D	0.98567	1.0644	10	0.87932	D	0	-23.6	18.0184	0.89248	0.0:1.0:0.0:0.0	.	283;283	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	H	283	ENSP00000353007:R283H;ENSP00000418290:R283H;ENSP00000354662:R283H;ENSP00000418442:R283H	ENSP00000353007:R283H	R	-	2	0	SULF2	45746622	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.600000	0.82769	2.489000	0.83994	0.537000	0.68136	CGC		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		T	46313215	C	T	46313215	3	4	47	1	0	0	0	0	1	0	0	0	15370	768	27	1	1828	1	SULF2	20	46313215	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	8692181	46313215	16712305	119	4659											
KRTAP10-4	386672	hgsc.bcm.edu;mdanderson.org	37	chr21	45993747	45993747	+	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	actgcccagagagctgctgcGagcccccctgctgcgccccc	5	5	11	20	2	0	1	0	0	0	1	0	3	0	1	6	0	7	3	6	0	0	0			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr21:45993747G>A	ENST00000400374.3	+	1	142	c.112G>A	c.(112-114)Gag>Aag	p.E38K	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	38	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						GAGCTGCTGCGAGCCCCCCTG	0.697																																						.											0													38	42	41					21																	45993747		1969	4113	6082	SO:0001583	missense	386672			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.112G>A	21.37:g.45993747G>A	ENSP00000383225:p.Glu38Lys		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	16.62	3.175003	0.57692	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.14766	2.48	4.69	3.8	0.43715	.	.	.	.	.	T	0.28466	0.0704	M	0.76170	2.325	0.24203	N	0.995509	D	0.76494	0.999	P	0.57911	0.829	T	0.08994	-1.0695	9	0.54805	T	0.06	.	6.9169	0.24365	0.0961:0.1791:0.7249:0.0	.	38	P60372	KR104_HUMAN	K	38;27	ENSP00000383225:E38K	ENSP00000333987:E27K	E	+	1	0	KRTAP10-4	44818175	0.116000	0.22171	0.987000	0.45799	0.411000	0.31082	1.362000	0.34148	1.080000	0.41073	-0.458000	0.05436	GAG		0.697	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		A	45993747	G	A	45993747	3	1	47	1	0	0	0	0	1	0	0	0	8511	1059	37	1	114	1	KRTAP10-4	21	45993747	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10		45993747	2136148	120	4660											
KRTAP10-6	386674	mdanderson.org	37	chr21	46011324	46011324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagggcgggagcacaTggggcggcagaggagggaaa	11	1	22	7	2	0	1	0	0	0	1	0	4	0	4	0	8	1	4	0	8	1	0	rs1785472		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr21:46011324T>C	ENST00000400368.1	-	1	1062	c.1042A>G	c.(1042-1044)Atg>Gtg	p.M348V	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	348						keratin filament (GO:0045095)		p.M348V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CGGGAGCACATGGGGCGGCAG	0.682																																						.											1	Substitution - Missense(1)	prostate(1)											47	59	55					21																	46011324		2197	4300	6497	SO:0001583	missense	386674			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.1042A>G	21.37:g.46011324T>C	ENSP00000383219:p.Met348Val			Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.992851	0.00002	.	.	ENSG00000188155	ENST00000400368	T	0.00686	5.85	2.84	-5.55	0.02536	.	.	.	.	.	T	0.00210	0.0006	N	0.00230	-1.795	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.38672	-0.9650	9	0.02654	T	1	.	1.9179	0.03301	0.1134:0.3558:0.2249:0.306	.	348	P60371	KR106_HUMAN	V	348	ENSP00000383219:M348V	ENSP00000383219:M348V	M	-	1	0	KRTAP10-6	44835752	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-4.157000	0.00283	-1.772000	0.01292	-2.665000	0.00146	ATG		0.682	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		C	46011324	T	C	46011324	3	2	47	1	0	0	0	0	1	0	0	0	8513	1464	51	4	59	4	KRTAP10-6	21	46011324	Missense_Mutation	SNP	T	TCGA-KN-8432-01A-11D-2310-10	17577	46011324	2118571	121	4661											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117243	46117243	+	Missense_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	gctgtgagcccccctgctgcGccccggccccctgcctgagc	2	6	12	21	2	0	2	0	2	0	0	0	2	0	2	8	1	5	2	8	1	0	0	rs199900483		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr21:46117243G>A	ENST00000400365.3	+	1	157	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	43	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCCCTGCTGCGCCCCGGCCCC	0.677																																						.											0								G	,THR/ALA	0,4172		0,0,2086	44	52	49		,127	0.5	0.7	21		49	2,8452		0,2,4225	no	intron,missense	TSPEAR,KRTAP10-12	NM_144991.2,NM_198699.1	,58	0,2,6311	AA,AG,GG		0.0237,0.0,0.0158	,probably-damaging	,43/246	46117243	2,12624	2086	4227	6313	SO:0001583	missense	386685			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.127G>A	21.37:g.46117243G>A	ENSP00000383216:p.Ala43Thr		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	N	7.053	0.564762	0.13498	0.0	2.37E-4	ENSG00000189169	ENST00000400365	T	0.04654	3.58	3.61	0.506	0.16961	.	.	.	.	.	T	0.03305	0.0096	N	0.20986	0.625	0.22446	N	0.999096	B	0.09022	0.002	B	0.04013	0.001	T	0.43861	-0.9365	9	0.39692	T	0.17	.	4.6012	0.12354	0.216:0.3464:0.4376:0.0	.	43	P60413	KR10C_HUMAN	T	43	ENSP00000383216:A43T	ENSP00000383216:A43T	A	+	1	0	KRTAP10-12	44941671	.	.	0.700000	0.30305	0.237000	0.25408	.	.	-0.159000	0.11021	-0.736000	0.03550	GCC		0.677	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		A	46117243	G	A	46117243	3	1	47	1	0	0	0	0	1	0	0	0	8508	1087	38	1	129	1	KRTAP10-12	21	46117243	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10	105919	46117243	2012652	122	4662											
PHF5A	84844	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	41863526	41863526	+	Missense_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	tcctccacagatcacacagcGcccctggtaagatccatagt	11	8	7	15	1	1	2	1	0	0	2	4	2	4	2	5	1	1	1	5	1	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ACO2_ENST00000396512.3_5'Flank|ACO2_ENST00000216254.4_5'Flank|PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507																																					Ovarian(15;130 571 1826 2981 46141)	.											1	Substitution - Missense(1)	central_nervous_system(1)											104	85	91					22																	41863526		2203	4300	6503	SO:0001583	missense	84844			BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"Zinc fingers, PHD-type"	18000	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 7"					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.169C>T	22.37:g.41863526G>A	ENSP00000216252:p.Arg57Cys		Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704285	0.88924	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.89658	3.05	0.80722	D	1	B	0.27229	0.172	B	0.31245	0.126	T	0.79035	-0.1968	9	0.51188	T	0.08	-18.9427	19.8379	0.96666	0.0:0.0:1.0:0.0	.	57	Q7RTV0	PHF5A_HUMAN	C	57	.	ENSP00000216252:R57C	R	-	1	0	PHF5A	40193472	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.547000	0.98100	2.765000	0.95021	0.655000	0.94253	CGC		0.507	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		A	41863526	G	A	41863526	3	1	47	1	0	0	0	0	1	0	0	0	11837	1087	38	1	171	1	PHF5A	22	41863526	Missense_Mutation	SNP	G	TCGA-KN-8432-01A-11D-2310-10		41863526	9441040	123	4663											
ODF3B	440836	hgsc.bcm.edu	37	chr22	50970068	50970068	+	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	ggagtaggcgggggcgccgtCggtgccgcgcacggtcatgc	4	5	20	12	7	1	0	1	0	0	0	2	1	1	1	2	6	2	2	2	6	1	1	rs141953471	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr22:50970068C>T	ENST00000428989.2	-	2	243	c.244G>A	c.(244-246)Gac>Aac	p.D82N	TYMP_ENST00000395678.3_5'Flank|ODF3B_ENST00000329363.4_Missense_Mutation_p.D82N|TYMP_ENST00000395681.1_5'Flank|TYMP_ENST00000252029.3_5'Flank|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000401779.1_Missense_Mutation_p.R58Q|ODF3B_ENST00000403326.1_Intron|ODF3B_ENST00000405135.1_Missense_Mutation_p.D82N			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	82										lung(2)	2						GGGGCGCCGTCGGTGCCGCGC	0.761													C|||	91	0.0181709	0.0159	0.0144	5008	,	,		9314	0		0.0487	False		,,,				2504	0.0112					.											0								C	ASN/ASP	68,3178		1,66,1556	3	5	5		244	3.1	0	22	dbSNP_134	5	281,6899		5,271,3314	no	missense	ODF3B	NM_001014440.3	23	6,337,4870	TT,TC,CC		3.9136,2.0949,3.3474	possibly-damaging	82/254	50970068	349,10077	1623	3590	5213	SO:0001583	missense	440836				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.244G>A	22.37:g.50970068C>T	ENSP00000390712:p.Asp82Asn		A0PK18	Missense_Mutation	SNP	ENST00000428989.2	37	CCDS43039.1	58|58	0.026556776556776556|0.026556776556776556	15|15	0.03048780487804878|0.03048780487804878	8|8	0.022099447513812154|0.022099447513812154	0|0	0.0|0.0	35|35	0.04617414248021108|0.04617414248021108	C|C	13.50|13.50	2.254753|2.254753	0.39896|0.39896	0.020949|0.020949	0.039136|0.039136	ENSG00000177989|ENSG00000177989	ENST00000329363;ENST00000405135;ENST00000428989|ENST00000401779;ENST00000438960	T;T;T|.	0.34472|.	1.39;1.36;1.39|.	4.1|4.1	3.06|3.06	0.35304|0.35304	.|.	.|.	.|.	.|.	.|.	T|T	0.09379|0.09379	0.0231|0.0231	M|M	0.75615|0.75615	2.305|2.305	0.09310|0.09310	N|N	1|1	P|P	0.44090|0.46020	0.826|0.871	B|B	0.37047|0.39258	0.24|0.295	T|T	0.06588|0.06588	-1.0818|-1.0818	9|8	0.34782|0.56958	T|D	0.22|0.05	-5.2376|-5.2376	9.2168|9.2168	0.37353|0.37353	0.2168:0.7832:0.0:0.0|0.2168:0.7832:0.0:0.0	.|.	82|58	A8MYP8|B5MD02	ODF3B_HUMAN|.	N|Q	82|58;48	ENSP00000382804:D82N;ENSP00000384012:D82N;ENSP00000390712:D82N|.	ENSP00000382804:D82N|ENSP00000384310:R58Q	D|R	-|-	1|2	0|0	ODF3B|ODF3B	49316934|49316934	0.945000|0.945000	0.32115|0.32115	0.004000|0.004000	0.12327|0.12327	0.192000|0.192000	0.23643|0.23643	2.862000|2.862000	0.48388|0.48388	1.033000|1.033000	0.39918|0.39918	0.462000|0.462000	0.41574|0.41574	GAC|CGA		0.761	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317626.2			T	50970068	C	T	50970068	3	4	47	1	0	0	0	0	1	0	0	0	10830	884	31	1	537	1	ODF3B	22	50970068	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	9106542	50970068	334498	124	4664											
EIF2S3	1968	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	24075766	24075766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatttataagcttgatgAcccaagttgccctcggccag	10	12	9	10	1	0	3	0	2	0	1	1	3	0	3	3	1	2	2	3	1	4	6			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:24075766A>G	ENST00000253039.4	+	4	531	c.278A>G	c.(277-279)gAc>gGc	p.D93G		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	93	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						AAGCTTGATGACCCAAGTTGC	0.383																																						.											0													64	65	65					X																	24075766		2203	4300	6503	SO:0001583	missense	1968			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.278A>G	X.37:g.24075766A>G	ENSP00000253039:p.Asp93Gly		B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	37	CCDS14210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.25|16.25	3.071171|3.071171	0.55646|0.55646	.|.	.|.	ENSG00000130741|ENSG00000130741	ENST00000253039|ENST00000423068	T|.	0.64803|.	-0.12|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74898|.	0.3777|.	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|.	0.76498|.	-0.2937|.	10|.	0.54805|.	T|.	0.06|.	.|.	14.0831|14.0831	0.64937|0.64937	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	93|.	P41091|.	IF2G_HUMAN|.	G|W	93|92	ENSP00000253039:D93G|.	ENSP00000253039:D93G|.	D|X	+|+	2|3	0|0	EIF2S3|EIF2S3	23985687|23985687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.806000|8.806000	0.91930|0.91930	1.771000|1.771000	0.52183|0.52183	0.417000|0.417000	0.27973|0.27973	GAC|TGA		0.383	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		G	24075766	A	G	24075766	3	3	47	1	0	0	0	0	1	0	0	0	5011	275	10	2	292	2	EIF2S3	23	24075766	Missense_Mutation	SNP	A	TCGA-KN-8432-01A-11D-2310-10		24075766	131194794	125	4665											
FAM47A	158724	bcgsc.ca	37	chrX	34148877	34148877	+	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	ccgacgagtcttgggaggctCcgagcggagactggacgtcc	7	6	16	12	5	1	1	0	0	1	1	3	7	3	3	3	4	1	1	3	4	0	1	rs5973088		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:34148877C>G	ENST00000346193.3	-	1	1570	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	507			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.E507Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGAGCGGAGA	0.647																																						.											1	Substitution - Missense(1)	kidney(1)											29	29	29					X																	34148877		2181	4247	6428	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1519G>C	X.37:g.34148877C>G	ENSP00000345029:p.Glu507Gln		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	6	0.003616636528028933	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	2	0.002638522427440633	c	9.299	1.052687	0.19907	.	.	ENSG00000185448	ENST00000346193	T	0.14391	2.51	0.226	0.226	0.15353	.	.	.	.	.	T	0.05227	0.0139	L	0.27053	0.805	0.09310	N	1	B	0.24483	0.104	B	0.16722	0.016	T	0.41466	-0.9507	8	0.17832	T	0.49	.	.	.	.	rs5973088	507	Q5JRC9	FA47A_HUMAN	Q	507	ENSP00000345029:E507Q	ENSP00000345029:E507Q	E	-	1	0	FAM47A	34058798	0.053000	0.20554	0.000000	0.03702	0.001000	0.01503	1.713000	0.37951	0.283000	0.22279	0.287000	0.19450	GAG		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		G	34148877	C	G	34148877	3	3	47	1	0	0	0	0	1	0	0	0	5569	864	30	5	860	5	FAM47A	23	34148877	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	10073111	34148877	121121683	126	4666											
FAM47C	442444	broad.mit.edu	37	chrX	37028121	37028121	+	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	gagagtagcgtatctcatctCcgcccagagcctcctgagac	9	8	10	14	2	2	3	1	1	2	3	5	5	3	3	4	0	2	2	4	0	2	2			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:37028121C>T	ENST00000358047.3	+	1	1690	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	546										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						TATCTCATCTCCGCCCAGAGC	0.607																																						.											0													70	74	72					X																	37028121		2202	4300	6502	SO:0001819	synonymous_variant	442444			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.1638C>T	X.37:g.37028121C>T			Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37028121	C	T	37028121	2	4	47	1	0	0	0	0	0	0	0	1	5571	842	30	3		3	FAM47C	23	37028121	Silent	SNP	C	TCGA-KN-8432-01A-11D-2310-10	2879244	37028121	118242439	127	4667											
MAGED2	10916	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	54837700	54837700	+	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	caggcaaatgatttggtgaaGtaccttttggctaaagacca	13	11	10	7	0	0	3	0	2	0	1	0	3	0	3	2	3	1	3	2	3	5	5			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:54837700G>A	ENST00000375068.1	+	5	1097	c.864G>A	c.(862-864)aaG>aaA	p.K288K	MAGED2_ENST00000375062.4_Silent_p.K203K|MAGED2_ENST00000375053.2_Silent_p.K288K|MAGED2_ENST00000347546.4_Silent_p.K270K|MAGED2_ENST00000375058.1_Silent_p.K288K|MAGED2_ENST00000375060.1_Silent_p.K203K|MAGED2_ENST00000218439.4_Silent_p.K288K|MAGED2_ENST00000396224.1_Silent_p.K288K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	288	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATTTGGTGAAGTACCTTTTGG	0.478																																						.											0													131	115	121					X																	54837700		2203	4300	6503	SO:0001819	synonymous_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.864G>A	X.37:g.54837700G>A			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	CCDS14362.1																																																																																				0.478	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		A	54837700	G	A	54837700	2	1	47	1	0	0	0	0	0	0	0	1	9184	1020	36	4		4	MAGED2	23	54837700	Silent	SNP	G	TCGA-KN-8432-01A-11D-2310-10	17809579	54837700	100432860	128	4668											
RBMX	27316	mdanderson.org	37	chrX	135960230	135960230	+	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	ggcttgttccaccttgatggCttttccatctaatgactaaa	9	15	7	10	0	1	2	0	2	1	0	3	2	3	2	3	2	0	3	3	2	3	7	rs199717308		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:135960230C>T	ENST00000320676.7	-	4	386	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	RBMX_ENST00000562646.1_Missense_Mutation_p.A78T|RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000431446.3_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A78T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACCTTGATGGCTTTTCCATCT	0.398																																						.											1	Substitution - Missense(1)	prostate(1)											30	27	28					X																	135960230		2203	4300	6503	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.232G>A	X.37:g.135960230C>T	ENSP00000359645:p.Ala78Thr		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	11.06	1.528254	0.27299	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.15139	2.45	5.15	4.19	0.49359	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.364756	0.24165	U	0.040949	T	0.06781	0.0173	N	0.01168	-0.975	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.14023	0.01;0.01	T	0.28170	-1.0052	10	0.35671	T	0.21	.	13.8269	0.63357	0.1641:0.8359:0.0:0.0	.	78;65	P38159;Q8N8Y7	HNRPG_HUMAN;.	T	78;65	ENSP00000359645:A78T	ENSP00000359645:A78T	A	-	1	0	RBMX	135787896	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.150000	0.50662	2.132000	0.65825	0.504000	0.49776	GCC		0.398	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		T	135960230	C	T	135960230	3	4	47	1	0	0	0	0	1	0	0	0	13151	797	28	4	1022	4	RBMX	23	135960230	Missense_Mutation	SNP	C	TCGA-KN-8432-01A-11D-2310-10	81122530	135960230	19310330	129	4669											
RER1	11079	mdanderson.org	37	chr1	2333768	2333768	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcttctgtatcacgatgaAgaggcaaatcaaggtaaagc	14	9	10	8	1	4	2	2	1	2	1	4	3	4	2	0	2	1	4	0	2	6	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:2333768A>G	ENST00000605895.1	+	6	621	c.488A>G	c.(487-489)aAg>aGg	p.K163R	RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.K163R	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	163				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		ATCACGATGAAGAGGCAAATC	0.557																																						.											0													114	117	116					1																	2333768		2096	4224	6320	SO:0001583	missense	11079			AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.488A>G	1.37:g.2333768A>G	ENSP00000475168:p.Lys163Arg		O95322	Missense_Mutation	SNP	ENST00000605895.1	37	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.142674	0.37825	.	.	ENSG00000157916	ENST00000306256;ENST00000434662	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	L	0.33668	1.02	0.80722	D	1	B	0.33857	0.429	B	0.39531	0.302	T	0.37731	-0.9693	9	0.06757	T	0.87	.	14.2383	0.65941	1.0:0.0:0.0:0.0	.	163	O15258	RER1_HUMAN	R	163	.	ENSP00000302088:K163R	K	+	2	0	RER1	2323628	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	8.127000	0.89593	1.979000	0.57680	0.383000	0.25322	AAG		0.557	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			G	2333768	A	G	2333768	3	3	48	1	0	0	0	0	1	0	0	0	13230	72	3	2	506	2	RER1	1	2333768	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10		2333768	246916853	1	4670											
KDM1A	23028	mdanderson.org	37	chr1	23408744	23408744	+	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	tgtggtgtctcgttggcgtgCtgatccctgggctcggggct	1	13	17	10	3	1	1	0	1	1	0	4	1	2	1	1	5	1	4	1	5	0	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:23408744C>T	ENST00000356634.3	+	18	2407	c.2258C>T	c.(2257-2259)gCt>gTt	p.A753V	KDM1A_ENST00000542151.1_Missense_Mutation_p.A777V|KDM1A_ENST00000400181.4_Missense_Mutation_p.A777V|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	753	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CGTTGGCGTGCTGATCCCTGG	0.473																																						.											0													103	91	95					1																	23408744		2203	4300	6503	SO:0001583	missense	23028			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2258C>T	1.37:g.23408744C>T	ENSP00000349049:p.Ala753Val		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.451613	0.96205	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.10382	2.88;2.88;2.88	5.93	5.01	0.66863	Amine oxidase (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.53561	1.675	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.59012	0.787;0.85	T	0.00054	-1.2182	10	0.59425	D	0.04	-18.7936	14.6427	0.68737	0.0:0.9295:0.0:0.0705	.	777;753	O60341-2;O60341	.;KDM1A_HUMAN	V	753;777;777	ENSP00000349049:A753V;ENSP00000383042:A777V;ENSP00000439072:A777V	ENSP00000349049:A753V	A	+	2	0	KDM1A	23281331	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GCT		0.473	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		T	23408744	C	T	23408744	3	4	48	1	0	0	0	0	1	0	0	0	8122	797	28	4	2408	4	KDM1A	1	23408744	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	21074976	23408744	225841877	2	4671											
CNR2	1269	mdanderson.org	37	chr1	24201162	24201162	+	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	cctcacacacttcttccagtGagccaggcagtgatgggcag	9	8	11	13	0	2	2	1	2	1	0	3	2	3	2	3	2	1	2	3	2	0	2	rs2229579	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:24201162G>A	ENST00000374472.4	-	2	1107	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	CNR2_ENST00000536471.1_Missense_Mutation_p.H316Y	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	316			H -> Y (in dbSNP:rs2229579). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18286196, ECO:0000269|Ref.5}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TTCTTCCAGTGAGCCAGGCAG	0.552													G|||	538	0.107428	0.0045	0.1081	5008	,	,		21093	0.2143		0.0885	False		,,,				2504	0.1554					.											0								G	TYR/HIS	105,4301	80.9+/-119.3	2,101,2100	93	95	94		946	0.7	0	1	dbSNP_98	94	859,7741	197.3+/-242.0	34,791,3475	yes	missense	CNR2	NM_001841.2	83	36,892,5575	AA,AG,GG		9.9884,2.3831,7.412	benign	316/361	24201162	964,12042	2203	4300	6503	SO:0001583	missense	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.946C>T	1.37:g.24201162G>A	ENSP00000363596:p.His316Tyr		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	CCDS245.1	219	0.10027472527472528	1	0.0020325203252032522	30	0.08287292817679558	119	0.20804195804195805	69	0.09102902374670185	G	0.505	-0.868974	0.02570	0.023831	0.099884	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.36878	1.23;1.23	5.21	0.728	0.18260	.	1.823760	0.02519	N	0.092394	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.30870	0.298	B	0.24974	0.057	T	0.11397	-1.0589	9	0.12430	T	0.62	.	4.3273	0.11046	0.0722:0.2569:0.4207:0.2501	rs2229579;rs3820021;rs52824290;rs2229579	316	P34972	CNR2_HUMAN	Y	316	ENSP00000363596:H316Y;ENSP00000442830:H316Y	ENSP00000363596:H316Y	H	-	1	0	CNR2	24073749	0.000000	0.05858	0.006000	0.13384	0.092000	0.18411	0.023000	0.13533	0.151000	0.19162	0.563000	0.77884	CAC		0.552	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		A	24201162	G	A	24201162	3	1	48	1	0	0	0	0	1	0	0	0	3632	1290	45	4	140	4	CNR2	1	24201162	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	792418	24201162	225049459	3	4672											
NASP	4678	mdanderson.org	37	chr1	46073372	46073372	+	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	aaaggaggtcaggagaagcaGggagaggtaattgtgagcat	15	6	17	3	0	1	3	1	1	0	2	1	6	1	4	0	5	2	3	0	5	3	2	rs202027114		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:46073372G>C	ENST00000350030.3	+	6	876	c.789G>C	c.(787-789)caG>caC	p.Q263H	NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.Q265H|NASP_ENST00000537798.1_Missense_Mutation_p.Q199H	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	263	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)					AGGAGAAGCAGGGAGAGGTAA	0.478																																						.											0													44	47	46					1																	46073372		2203	4300	6503	SO:0001583	missense	4678			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.789G>C	1.37:g.46073372G>C	ENSP00000255120:p.Gln263His		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615555	0.28801	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.37	5.37	0.77165	.	0.433338	0.26122	N	0.026214	D	0.92113	0.7500	N	0.17082	0.46	0.32940	D	0.518256	D;D;D;D;D	0.69078	0.994;0.996;0.997;0.99;0.994	P;D;D;P;P	0.64321	0.861;0.924;0.924;0.73;0.861	D	0.90293	0.4324	9	.	.	.	-5.1147	6.1073	0.20081	0.113:0.0:0.6989:0.188	.	199;263;163;263;265	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	H	199;265;163;263;226	ENSP00000438871:Q199H;ENSP00000384529:Q265H;ENSP00000255120:Q263H;ENSP00000436924:Q226H	.	Q	+	3	2	NASP	45845959	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.932000	0.48940	2.902000	0.99343	0.650000	0.86243	CAG		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		C	46073372	G	C	46073372	3	2	48	1	0	0	0	0	1	0	0	0	10172	991	35	5	888	5	NASP	1	46073372	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	21872210	46073372	203177249	4	4673											
ZZZ3	26009	mdanderson.org	37	chr1	78097667	78097667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaatattgagtcttgccTctgagggtggtttacttact	7	16	10	8	0	2	2	0	2	2	0	3	2	3	2	2	2	3	1	2	2	4	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:78097667T>C	ENST00000370801.3	-	5	1848	c.1373A>G	c.(1372-1374)gAg>gGg	p.E458G	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	458					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GAGTCTTGCCTCTGAGGGTGG	0.388																																						.											0													177	163	168					1																	78097667		2203	4300	6503	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1373A>G	1.37:g.78097667T>C	ENSP00000359837:p.Glu458Gly		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029389	0.35797	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.74	5.74	0.90152	.	0.136480	0.56097	D	0.000039	T	0.70159	0.3192	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.922;0.964	T	0.69903	-0.5019	8	.	.	.	.	16.3545	0.83230	0.0:0.0:0.0:1.0	.	458;458;458	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	G	458	.	.	E	-	2	0	ZZZ3	77870255	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.785000	0.75089	2.326000	0.78906	0.533000	0.62120	GAG		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		C	78097667	T	C	78097667	3	2	48	1	0	0	0	0	1	0	0	0	18253	1551	54	2	1382	2	ZZZ3	1	78097667	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	32024295	78097667	171152954	5	4674											
USP33	23032	mdanderson.org	37	chr1	78177501	78177501	+	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	gcctcaatttggcaagtatgAcaaatgtacagatggttgac	13	11	10	7	0	1	3	1	2	0	1	1	3	1	3	1	2	1	4	1	2	5	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:78177501A>G	ENST00000370793.1	-	22	2776	c.2430T>C	c.(2428-2430)tgT>tgC	p.C810C	USP33_ENST00000357428.1_Silent_p.C810C|USP33_ENST00000370794.3_Silent_p.C779C|USP33_ENST00000370792.3_Silent_p.C802C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	810	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				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						GGCAAGTATGACAAATGTACA	0.318																																					Melanoma(152;72 1870 11110 26780 42647)	.											0													39	42	41					1																	78177501		2203	4299	6502	SO:0001819	synonymous_variant	23032			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.2430T>C	1.37:g.78177501A>G			Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	A	9.652	1.141738	0.21205	.	.	ENSG00000077254	ENST00000481579	.	.	.	5.37	1.67	0.24075	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.8392	0.35131	0.6413:0.0:0.3587:0.0	.	.	.	.	A	415	.	.	V	-	2	0	USP33	77950089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.248000	0.43160	0.392000	0.25172	0.533000	0.62120	GTC		0.318	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		G	78177501	A	G	78177501	2	3	48	1	0	0	0	0	0	0	0	1	17061	273	10	2		2	USP33	1	78177501	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	79834	78177501	171073120	6	4675											
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-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	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																																						.											0													19	21	20					1																	151678746		2199	4294	6493	SO:0001819	synonymous_variant	11189			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			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	3217	796	28	4		4	CELF3	1	151678746	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	73501245	151678746	97571875	7	4676											
FLG2	388698	mdanderson.org	37	chr1	152325171	152325171	+	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	ctagtggtatctcctgtctgTccatgagtagttccatgtct	6	16	9	10	0	3	1	0	1	3	0	6	1	5	1	3	1	0	3	3	1	3	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:152325171T>C	ENST00000388718.5	-	3	5163	c.5091A>G	c.(5089-5091)ggA>ggG	p.G1697G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1697					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)			CTCCTGTCTGTCCATGAGTAG	0.493																																						.											0													413	360	378					1																	152325171		2203	4300	6503	SO:0001819	synonymous_variant	388698			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.5091A>G	1.37:g.152325171T>C			Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152325171	T	C	152325171	2	2	48	1	0	0	0	0	0	0	0	1	5923	1654	58	2		2	FLG2	1	152325171	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	646425	152325171	96925450	8	4677											
ATP8B2	57198	mdanderson.org	37	chr1	154315311	154315311	+	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	tctccttcaatcctctggctGacaagaagttcttattttgg	8	16	7	10	0	4	2	1	1	3	1	6	2	5	2	2	2	0	2	2	2	4	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:154315311G>A	ENST00000368489.3	+	15	1426	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	462					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)			TCCTCTGGCTGACAAGAAGTT	0.542																																						.											0													92	89	90					1																	154315311		2203	4300	6503	SO:0001583	missense	57198			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.1426G>A	1.37:g.154315311G>A	ENSP00000357475:p.Asp476Asn		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733878	0.89482	.	.	ENSG00000143515	ENST00000368489	T	0.61859	0.07	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.62266	1.93	0.80722	D	1	D	0.59767	0.986	D	0.63283	0.913	T	0.65780	-0.6085	10	0.49607	T	0.09	.	18.3169	0.90224	0.0:0.0:1.0:0.0	.	476	P98198-3	.	N	476	ENSP00000357475:D476N	ENSP00000357475:D476N	D	+	1	0	ATP8B2	152581935	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.697000	0.84279	2.808000	0.96608	0.655000	0.94253	GAC		0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		A	154315311	G	A	154315311	3	1	48	1	0	0	0	0	1	0	0	0	1195	1290	45	4	1614	4	ATP8B2	1	154315311	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	1990140	154315311	94935310	9	4678											
SELL	6402	mdanderson.org	37	chr1	169673838	169673838	+	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	gaagctgaagtttcccaaagGgtgagtacagtccatggtac	12	9	12	8	0	0	2	0	2	0	0	2	3	2	2	2	2	3	4	2	2	5	3	rs2229569	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:169673838G>A	ENST00000236147.4	-	5	836	c.676C>T	c.(676-678)Cct>Tct	p.P226S	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	213	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)					TTTCCCAAAGGGTGAGTACAG	0.478													G|||	1222	0.24401	0.27	0.2752	5008	,	,		19408	0.254		0.175	False		,,,				2504	0.2474					.											0								G	SER/PRO	809,2909		85,639,1135	47	47	47		676	5.3	0.9	1	dbSNP_98	47	1076,7044		73,930,3057	yes	missense	SELL	NM_000655.4	74	158,1569,4192	AA,AG,GG		13.2512,21.759,15.9233	probably-damaging	226/386	169673838	1885,9953	1859	4060	5919	SO:0001583	missense	6402			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.676C>T	1.37:g.169673838G>A	ENSP00000236147:p.Pro226Ser		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	523	0.23946886446886448	139	0.28252032520325204	91	0.2513812154696133	163	0.28496503496503495	130	0.17150395778364116	G	18.76	3.692950	0.68271	0.21759	0.132512	ENSG00000188404	ENST00000236147	T	0.48201	0.82	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.117810	0.38326	N	0.001734	T	0.56717	0.2004	M	0.63843	1.955	0.23533	P	0.99747012	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61033	-0.7144	9	0.56958	D	0.05	-9.9883	12.5565	0.56257	0.0:0.1674:0.8325:0.0	rs2229569;rs4987310;rs52812496;rs58249723;rs4987310	226;213	Q8WW79;P14151	.;LYAM1_HUMAN	S	226	ENSP00000236147:P226S	ENSP00000236147:P226S	P	-	1	0	SELL	167940462	0.994000	0.37717	0.872000	0.34217	0.870000	0.49936	2.131000	0.42074	2.631000	0.89168	0.655000	0.94253	CCT		0.478	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		A	169673838	G	A	169673838	3	1	48	1	0	0	0	0	1	0	0	0	14016	1232	43	3	501	3	SELL	1	169673838	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	15358527	169673838	79576783	10	4679											
KIAA1614	57710	broad.mit.edu	37	chr1	180910361	180910362	+	Frame_Shift_Ins	INS	-	-	C																															acagtgtggagcagttgcagINScccgccccgcctggcctgac																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:180910361_180910362insC	ENST00000367588.4	+	7	3154_3155	c.3099_3100insC	c.(3100-3102)cccfs	p.P1034fs	KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Frame_Shift_Ins_p.P655fs	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1034	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGCAGTTGCAGCCCGCCCCGCC	0.658																																						.											0																																										SO:0001589	frameshift_variant	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3102dupC	1.37:g.180910364_180910364dupC	ENSP00000356560:p.Pro1034fs		Q5VZ45|Q9HCF8	Frame_Shift_Ins	INS	ENST00000367588.4	37	CCDS41442.1																																																																																				0.658	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		C	180910362	-	C	180910361	7	5	48	1	0	1	1	0	0	0	0	0	8248	962	34	0	3125	0	KIAA1614	1	180910361	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	11236523	180910361	68340260	11	4680											
KCNT2	343450	mdanderson.org	37	chr1	196227480	196227480	+	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	gccttttctgctcagtcttcGggcccactgcatgctttttc	3	16	8	14	1	3	0	1	0	2	0	5	0	3	0	2	1	3	3	2	1	0	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:196227480G>T	ENST00000294725.9	-	26	3970	c.3055C>A	c.(3055-3057)Cga>Aga	p.R1019R	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Silent_p.R952R|KCNT2_ENST00000367433.5_Silent_p.R995R|KCNT2_ENST00000367431.4_Silent_p.R953R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTCAGTCTTCGGGCCCACTGC	0.517																																						.											0													152	131	138					1																	196227480		2203	4300	6503	SO:0001819	synonymous_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3055C>A	1.37:g.196227480G>T			Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	CCDS1384.1																																																																																				0.517	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		T	196227480	G	T	196227480	2	4	48	1	0	0	0	0	0	0	0	1	8092	1124	39	5		5	KCNT2	1	196227480	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	15317119	196227480	53023141	12	4681											
SLC45A3	85414	mdanderson.org	37	chr1	205628616	205628616	+	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	ctcacccaccaccacacgtaCggagacatcacaggcagagg	13	3	9	16	2	2	2	2	0	0	2	2	3	2	2	3	3	1	2	3	3	1	1	rs137949511	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:205628616C>T	ENST00000367145.3	-	5	1703	c.1408G>A	c.(1408-1410)Gta>Ata	p.V470I	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	470					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ACCACACGTACGGAGACATCA	0.677			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	21	0.00419329	0	0.0043	5008	,	,		18353	0		0.0119	False		,,,				2504	0.0061					.		Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	0								C	ILE/VAL	8,4396	14.3+/-33.2	0,8,2194	38	38	38		1408	-1.4	0.4	1	dbSNP_134	38	78,8520	44.5+/-102.8	0,78,4221	yes	missense	SLC45A3	NM_033102.2	29	0,86,6415	TT,TC,CC		0.9072,0.1817,0.6614	benign	470/554	205628616	86,12916	2202	4299	6501	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1408G>A	1.37:g.205628616C>T	ENSP00000356113:p.Val470Ile	2153	A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	2.983	-0.209897	0.06140	0.001817	0.009072	ENSG00000158715	ENST00000367145	T	0.44482	0.92	5.48	-1.36	0.09085	.	0.387498	0.26341	N	0.024935	T	0.13072	0.0317	N	0.14661	0.345	0.09310	N	1	B	0.22211	0.066	B	0.13407	0.009	T	0.20538	-1.0272	10	0.14656	T	0.56	-17.1135	7.4464	0.27213	0.0:0.4405:0.1634:0.3962	.	470	Q96JT2	S45A3_HUMAN	I	470	ENSP00000356113:V470I	ENSP00000356113:V470I	V	-	1	0	SLC45A3	203895239	0.023000	0.18921	0.369000	0.25952	0.167000	0.22549	-0.027000	0.12371	-0.144000	0.11314	-0.339000	0.08088	GTA		0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		T	205628616	C	T	205628616	3	4	48	1	0	0	0	0	1	0	0	0	14642	536	19	1	257	1	SLC45A3	1	205628616	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	9401136	205628616	43622005	13	4682											
IKBKE	9641	mdanderson.org	37	chr1	206650108	206650108	+	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	atctctggagcattggagtgAccttgtaccatgcagccact	9	11	10	11	0	1	1	0	1	1	0	2	3	1	3	3	2	4	3	3	2	1	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:206650108A>T	ENST00000367120.3	+	7	1001	c.628A>T	c.(628-630)Acc>Tcc	p.T210S	IKBKE_ENST00000537984.1_Missense_Mutation_p.T125S	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	210	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)					CATTGGAGTGACCTTGTACCA	0.597																																						.											0													111	92	99					1																	206650108		2203	4300	6503	SO:0001583	missense	9641			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.628A>T	1.37:g.206650108A>T	ENSP00000356087:p.Thr210Ser		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986030	0.93044	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.46819	0.86;1.71	5.13	5.13	0.70059	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	0.69351	0.3101	M	0.82923	2.615	0.53688	D	0.999976	P;D	0.63880	0.911;0.993	P;D	0.64595	0.605;0.927	T	0.75218	-0.3395	10	0.72032	D	0.01	3.0E-4	14.9434	0.71012	1.0:0.0:0.0:0.0	.	125;210	Q3B754;Q14164	.;IKKE_HUMAN	S	210;125	ENSP00000356087:T210S;ENSP00000444529:T125S	ENSP00000356087:T210S	T	+	1	0	IKBKE	204716731	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.942000	0.92970	1.928000	0.55862	0.454000	0.30748	ACC		0.597	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			T	206650108	A	T	206650108	3	4	48	1	0	0	0	0	1	0	0	0	7612	275	10	5	646	5	IKBKE	1	206650108	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1021492	206650108	42600513	14	4683											
GALNT14	79623	mdanderson.org	37	chr2	31189098	31189098	+	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	ggtcctgagcagcgtggagcGggcctcgttgtggaaggtga	6	8	19	8	3	0	2	0	2	0	0	2	4	1	4	2	5	3	2	2	5	1	1	rs376894318		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:31189098G>A	ENST00000349752.5	-	3	1009	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	GALNT14_ENST00000420311.2_Missense_Mutation_p.R89C|GALNT14_ENST00000356174.3_Intron|GALNT14_ENST00000324589.5_Missense_Mutation_p.R129C|GALNT14_ENST00000406653.1_Missense_Mutation_p.R104C	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	124	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(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGCGTGGAGCGGGCCTCGTTG	0.592																																						.											0									CYS/ARG	0,4406		0,0,2203	249	195	213		370	2.7	1	2		213	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT14	NM_024572.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	124/553	31189098	1,13005	2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.370C>T	2.37:g.31189098G>A	ENSP00000288988:p.Arg124Cys		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	g	18.67	3.673428	0.67928	0.0	1.16E-4	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000420311	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.85	2.73	0.32206	Glycosyl transferase, family 2 (1);	0.108216	0.56097	D	0.000027	T	0.76364	0.3977	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;1.0	T	0.77213	-0.2670	10	0.38643	T	0.18	.	11.246	0.48998	0.0:0.0:0.5947:0.4053	.	89;89;129;124;104	F5H263;B7Z5C5;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	C	124;129;104;89	ENSP00000288988:R124C;ENSP00000314500:R129C;ENSP00000385435:R104C;ENSP00000415514:R89C	ENSP00000314500:R129C	R	-	1	0	GALNT14	31042602	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	1.856000	0.39389	0.990000	0.38787	0.480000	0.44947	CGC		0.592	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		A	31189098	G	A	31189098	3	1	48	1	0	0	0	0	1	0	0	0	6212	1116	39	1	1340	1	GALNT14	2	31189098	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10		31189098	212010275	15	4684											
GCC2	9648	mdanderson.org	37	chr2	109088337	109088337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagttagaagaaatacAgtcagaaaaagaggccctgc	19	5	11	6	0	1	5	1	0	0	5	1	6	1	5	1	1	2	1	1	1	7	2	rs139623765		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:109088337A>G	ENST00000309863.6	+	6	3266	c.2552A>G	c.(2551-2553)cAg>cGg	p.Q851R		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	851					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAAGAAATACAGTCAGAAAAA	0.343																																						.											0													40	44	43					2																	109088337		2199	4298	6497	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2552A>G	2.37:g.109088337A>G	ENSP00000307939:p.Gln851Arg		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661259	0.29515	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.31510	1.49	5.45	0.302	0.15786	.	0.974151	0.08386	N	0.953701	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.18710	T	0.47	.	2.6103	0.04889	0.2759:0.0724:0.1179:0.5338	.	851	Q8IWJ2	GCC2_HUMAN	R	851;814;595	ENSP00000307939:Q851R	ENSP00000307939:Q851R	Q	+	2	0	GCC2	108454769	0.341000	0.24801	0.003000	0.11579	0.953000	0.61014	1.325000	0.33724	-0.102000	0.12197	0.528000	0.53228	CAG		0.343	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		G	109088337	A	G	109088337	3	3	48	1	0	0	0	0	1	0	0	0	6286	188	7	2	2574	2	GCC2	2	109088337	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	77899239	109088337	134111036	16	4685											
POTEE	445582	mdanderson.org	37	chr2	131981279	131981279	+	Missense_Mutation	SNP	T	T	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	caaaaagaggacagctctgaTaaaggtatgcagtagccaac	17	6	10	8	0	1	2	0	1	1	1	1	3	1	3	1	2	4	4	1	2	7	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:131981279T>C	ENST00000356920.5	+	2	726	c.632T>C	c.(631-633)aTa>aCa	p.I211T	POTEE_ENST00000358087.5_Missense_Mutation_p.I211T|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	211					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T208fs*21(1)|p.?(1)									ACAGCTCTGATAAAGGTATGC	0.388																																						.											2	Unknown(1)|Deletion - Frameshift(1)	prostate(2)											4	5	5					2																	131981279		1352	3035	4387	SO:0001583	missense	445582			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.632T>C	2.37:g.131981279T>C	ENSP00000439189:p.Ile211Thr		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	2.085	-0.409789	0.04799	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.64991	-0.13;1.56	1.16	-0.171	0.13331	Ankyrin repeat-containing domain (4);	1.226600	0.05905	N	0.630695	T	0.40815	0.1132	N	0.20445	0.575	0.21064	N	0.999798	B	0.17465	0.022	B	0.14023	0.01	T	0.14868	-1.0457	10	0.12766	T	0.61	.	4.0041	0.09593	0.0:0.2359:0.0:0.7641	.	211	Q6S8J3	POTEE_HUMAN	T	211	ENSP00000439189:I211T;ENSP00000443049:I211T	ENSP00000439189:I211T	I	+	2	0	AC131180.1	131697749	1.000000	0.71417	0.006000	0.13384	0.023000	0.10783	1.399000	0.34566	-0.227000	0.09884	-1.288000	0.01363	ATA		0.388	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		C	131981279	T	C	131981279	3	2	48	1	0	0	0	0	1	0	0	0	12264	1406	49	4	638	4	POTEE	2	131981279	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	22892942	131981279	111218094	17	4686											
CSRNP3	80034	broad.mit.edu;mdanderson.org	37	chr2	166532972	166532972	+	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	aaaaacgaagagctctgctgCgtgcctctggagtgaaaaag	14	7	12	8	2	2	2	0	1	2	1	2	4	2	3	1	1	5	2	1	1	5	0	rs150240455		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:166532972C>T	ENST00000342316.4	+	4	831	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R187C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R219C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	187					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						AGCTCTGCTGCGTGCCTCTGG	0.493																																						.											0													155	158	157					2																	166532972		2203	4300	6503	SO:0001583	missense	80034			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.559C>T	2.37:g.166532972C>T	ENSP00000344042:p.Arg187Cys		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618124	0.87359	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.77	3.92	0.45320	.	0.137201	0.50627	D	0.000118	T	0.48696	0.1514	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55341	-0.8156	10	0.87932	D	0	-8.8202	14.7122	0.69241	0.2369:0.7631:0.0:0.0	.	187	Q8WYN3	CSRN3_HUMAN	C	187;194;187;187;219	ENSP00000412081:R187C;ENSP00000318258:R187C;ENSP00000344042:R187C;ENSP00000387195:R219C	ENSP00000318258:R187C	R	+	1	0	CSRNP3	166241218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.209000	0.51122	0.847000	0.35167	0.655000	0.94253	CGT		0.493	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		T	166532972	C	T	166532972	3	4	48	1	0	0	0	0	1	0	0	0	3965	768	27	1	569	1	CSRNP3	2	166532972	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	34551693	166532972	76666401	18	4687											
STAT4	6775	mdanderson.org	37	chr2	191937868	191937868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtgctccacattccTctgtctttctgaaactgaag	8	15	6	12	0	3	2	0	2	3	0	5	2	5	2	2	0	2	1	2	0	2	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:191937868T>C	ENST00000392320.2	-	5	735	c.421A>G	c.(421-423)Agg>Ggg	p.R141G	STAT4_ENST00000358470.4_Missense_Mutation_p.R141G	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	141					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCCACATTCCTCTGTCTTTCT	0.383																																						.											0													144	153	150					2																	191937868		2203	4300	6503	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.421A>G	2.37:g.191937868T>C	ENSP00000376134:p.Arg141Gly		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967615	0.74131	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.59772	0.24;0.24	5.92	3.43	0.39272	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.115942	0.56097	D	0.000033	T	0.58793	0.2147	L	0.53249	1.67	0.80722	D	1	P;P	0.49185	0.92;0.92	P;P	0.47603	0.551;0.551	T	0.60697	-0.7212	10	0.72032	D	0.01	-5.4751	12.9112	0.58181	0.0:0.0:0.2551:0.7449	.	141;141	B4DV04;Q14765	.;STAT4_HUMAN	G	141	ENSP00000351255:R141G;ENSP00000376134:R141G	ENSP00000351255:R141G	R	-	1	2	STAT4	191646113	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.428000	0.52792	0.423000	0.26033	0.455000	0.32223	AGG		0.383	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		C	191937868	T	C	191937868	3	2	48	1	0	0	0	0	1	0	0	0	15266	1550	54	2	1905	2	STAT4	2	191937868	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	25404896	191937868	51261505	19	4688											
STRADB	55437	mdanderson.org	37	chr2	202343187	202343187	+	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	cagtcaggtgtagactctggGattggagaaagtgtgcttgt	9	12	15	5	0	2	2	1	0	1	2	2	4	2	3	0	3	1	2	0	3	2	3	rs200083822		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:202343187G>A	ENST00000194530.3	+	10	1298	c.933G>A	c.(931-933)ggG>ggA	p.G311G	STRADB_ENST00000392249.2_Silent_p.G311G	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TAGACTCTGGGATTGGAGAAA	0.423																																						.											0													76	72	73					2																	202343187		2203	4300	6503	SO:0001819	synonymous_variant	55437			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.933G>A	2.37:g.202343187G>A			Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1																																																																																				0.423	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		A	202343187	G	A	202343187	2	1	48	1	0	0	0	0	0	0	0	1	15324	1161	41	3		3	STRADB	2	202343187	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	10405319	202343187	40856186	20	4689											
CYP20A1	57404	mdanderson.org	37	chr2	204154552	204154552	+	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	tgactccagtttctgcccagCttcaagatattgaaggaaaa	13	11	8	9	0	2	3	1	2	1	1	3	4	3	4	2	1	2	2	2	1	5	4	rs1048013	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:204154552C>T	ENST00000356079.4	+	10	1159	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	CYP20A1_ENST00000429815.2_Missense_Mutation_p.L354F|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	346			L -> F (in dbSNP:rs1048013). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|membrane (GO:0016020)	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)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTCTGCCCAGCTTCAAGATAT	0.318													C|||	2003	0.39996	0.149	0.4438	5008	,	,		13211	0.3194		0.5606	False		,,,				2504	0.6258					.											0								C	PHE/LEU	979,3427	364.1+/-316.8	108,763,1332	61	58	59		1036	5.6	1	2	dbSNP_86	59	4837,3763	614.1+/-396.2	1365,2107,828	yes	missense	CYP20A1	NM_177538.2	22	1473,2870,2160	TT,TC,CC		43.7558,22.2197,44.7178	benign	346/463	204154552	5816,7190	2203	4300	6503	SO:0001583	missense	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1036C>T	2.37:g.204154552C>T	ENSP00000348380:p.Leu346Phe		Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	CCDS2357.1	835	0.3823260073260073	84	0.17073170731707318	183	0.505524861878453	158	0.2762237762237762	410	0.5408970976253298	C	14.49	2.549672	0.45383	0.222197	0.562442	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	T;T	0.70164	-0.46;-0.46	5.6	5.6	0.85130	.	0.060804	0.64402	D	0.000004	T	0.00012	0.0000	L	0.54323	1.7	0.20873	P	0.999831543	B;B	0.12013	0.003;0.005	B;B	0.18871	0.015;0.023	T	0.44997	-0.9291	9	0.12766	T	0.61	-8.4726	19.6715	0.95914	0.0:1.0:0.0:0.0	rs1048013;rs3188004;rs17415875;rs17858536;rs17859053;rs52814168;rs58200424;rs1048013	354;346	E9PHG5;Q6UW02	.;CP20A_HUMAN	F	346;319;354	ENSP00000348380:L346F;ENSP00000407860:L354F	ENSP00000348380:L346F	L	+	1	0	CYP20A1	203862797	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.719000	0.61937	2.667000	0.90743	0.580000	0.79431	CTT		0.318	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		T	204154552	C	T	204154552	3	4	48	1	0	0	0	0	1	0	0	0	4152	797	28	4	1074	4	CYP20A1	2	204154552	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1811365	204154552	39044821	21	4690											
NDUFS1	4719	mdanderson.org	37	chr2	206994915	206994915	+	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	ggagggttcttccgaattgcTtccaccccaggcttatagcc	7	11	10	13	1	1	0	0	0	1	0	3	2	3	1	5	3	2	3	5	3	3	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:206994915T>C	ENST00000233190.6	-	15	1871	c.1605A>G	c.(1603-1605)gaA>gaG	p.E535E	NDUFS1_ENST00000432169.1_Silent_p.E424E|NDUFS1_ENST00000440274.1_Silent_p.E499E|NDUFS1_ENST00000423725.1_Silent_p.E478E|NDUFS1_ENST00000449699.1_Silent_p.E535E|NDUFS1_ENST00000455934.2_Silent_p.E549E|NDUFS1_ENST00000457011.1_Silent_p.E419E	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	535					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						TCCGAATTGCTTCCACCCCAG	0.433																																						.											0													82	77	78					2																	206994915		2203	4300	6503	SO:0001819	synonymous_variant	4719				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.1605A>G	2.37:g.206994915T>C			B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1																																																																																				0.433	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		C	206994915	T	C	206994915	2	2	48	1	0	0	0	0	0	0	0	1	10291	1606	56	2		2	NDUFS1	2	206994915	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2840363	206994915	36204458	22	4691											
STK16	8576	bcgsc.ca	37	chr2	220111919	220111919	+	Missense_Mutation	SNP	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	aaatcctttggctgctgctgGggatctgcagaggccttgag	7	11	14	9	0	1	2	0	1	1	1	2	3	2	3	2	4	3	4	2	4	1	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:220111919G>T	ENST00000409638.3	+	4	563	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409260.1_Missense_Mutation_p.G176W|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.G131W|STK16_ENST00000409743.1_Missense_Mutation_p.G131W|STK16_ENST00000486813.1_3'UTR|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409516.3_Intron	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTGCTGGGGATCTGCAG	0.552																																					Pancreas(34;887 922 17165 36961 39622)	.											0													74	75	75					2																	220111919		1941	4146	6087	SO:0001583	missense	8576			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.391G>T	2.37:g.220111919G>T	ENSP00000386928:p.Gly131Trp		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791769	0.70452	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.75050	1.97;1.97;-0.9;1.97	5.69	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.996;0.998;1.0	D	0.90803	0.4695	10	0.87932	D	0	-5.5489	14.9395	0.70983	0.0688:0.0:0.9312:0.0	.	131;131;176;131	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	W	131;131;176;131	ENSP00000386928:G131W;ENSP00000379964:G131W;ENSP00000387156:G176W;ENSP00000386553:G131W	ENSP00000379964:G131W	G	+	1	0	STK16	219820163	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.688000	0.84153	1.401000	0.46761	0.655000	0.94253	GGG		0.552	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			T	220111919	G	T	220111919	3	4	48	1	0	0	0	0	1	0	0	0	15288	1232	43	5	401	5	STK16	2	220111919	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	13117004	220111919	23087454	23	4692											
UGT1A9	54600	mdanderson.org	37	chr2	234581157	234581157	+	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	ctctttcctatgtccccagaAttctcttagggttctcagat	7	16	6	12	0	3	2	1	0	3	2	7	2	5	2	3	1	0	1	3	1	3	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:234581157A>C	ENST00000354728.4	+	1	659	c.577A>C	c.(577-579)Att>Ctt	p.I193L	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.I193L|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	193					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGTCCCCAGAATTCTCTTAGG	0.468																																						.											0													156	165	162					2																	234581157		2203	4297	6500	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.577A>C	2.37:g.234581157A>C	ENSP00000346768:p.Ile193Leu		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.771680	0.00645	.	.	ENSG00000241119	ENST00000354728	T	0.59224	0.28	3.41	-6.83	0.01693	.	.	.	.	.	T	0.22936	0.0554	N	0.02960	-0.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13629	-1.0502	9	0.13470	T	0.59	.	5.5972	0.17333	0.4182:0.4051:0.0932:0.0834	.	193;193	Q5DSZ5;O60656	.;UD19_HUMAN	L	193	ENSP00000346768:I193L	ENSP00000346768:I193L	I	+	1	0	UGT1A9	234245896	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-10.910000	0.00005	-3.181000	0.00222	-0.690000	0.03725	ATT		0.468	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		C	234581157	A	C	234581157	3	2	48	1	0	0	0	0	1	0	0	0	16949	101	4	5	579	5	UGT1A9	2	234581157	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	14469238	234581157	8618216	24	4693											
SCN11A	11280	mdanderson.org	37	chr3	38912235	38912235	+	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	catccagcccttaaatgttgCctgcaacaaaagcagaaaaa	17	7	6	11	0	0	1	0	0	0	1	1	1	1	1	3	0	5	3	3	0	7	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:38912235C>T	ENST00000302328.3	-	22	3958	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	SCN11A_ENST00000456224.3_Splice_Site_p.A1216T|SCN11A_ENST00000444237.2_Splice_Site_p.A1254T|SCN11A_ENST00000450244.1_Splice_Site_p.A1254T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1254					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)	p.A1254S(1)		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)	TTAAATGTTGCCTGCAACAAA	0.418																																						.											1	Substitution - Missense(1)	lung(1)											92	83	86					3																	38912235		2203	4300	6503	SO:0001630	splice_region_variant	11280			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.3760-1G>A	3.37:g.38912235C>T			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056134	0.93793	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99835	1.1057	10	0.87932	D	0	.	17.2484	0.87034	0.0:1.0:0.0:0.0	.	1254	Q9UI33	SCNBA_HUMAN	T	1254;1254;1216;1254	ENSP00000307599:A1254T;ENSP00000400945:A1254T;ENSP00000416757:A1216T;ENSP00000408028:A1254T	ENSP00000307599:A1254T	A	-	1	0	SCN11A	38887239	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.915000	0.69973	2.219000	0.72066	0.491000	0.48974	GCA		0.418	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	Missense_Mutation	T	38912235	C	T	38912235	5	4	48	1	0	0	0	0	0	0	1	0	13913	753	26	3	1635	3	SCN11A	3	38912235	Splice_Site	SNP	C	TCGA-KN-8433-01A-11D-2310-10		38912235	159110195	25	4694											
ZNF445	353274	mdanderson.org	37	chr3	44492834	44492834	+	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	ccagccaggaagtcacgtgcTtctatttcatagggaggctc	9	10	11	11	1	3	0	2	0	1	0	4	2	3	2	2	3	2	2	2	3	3	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:44492834T>C	ENST00000396077.2	-	4	917	c.570A>G	c.(568-570)gaA>gaG	p.E190E	ZNF445_ENST00000425708.2_Silent_p.E190E	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	190					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGTCACGTGCTTCTATTTCAT	0.552																																						.											0													131	134	133					3																	44492834		2203	4300	6503	SO:0001819	synonymous_variant	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.570A>G	3.37:g.44492834T>C			Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																				0.552	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		C	44492834	T	C	44492834	2	2	48	1	0	0	0	0	0	0	0	1	17915	1606	56	2		2	ZNF445	3	44492834	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	5580599	44492834	153529596	26	4695											
NBEAL2	23218	mdanderson.org	37	chr3	47042507	47042507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaaacctctgaggaagAgttgtgcaatctgctcacca	13	8	9	11	0	3	2	1	1	2	1	3	3	3	3	2	1	4	4	2	1	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:47042507A>G	ENST00000450053.3	+	28	4501	c.4322A>G	c.(4321-4323)gAg>gGg	p.E1441G	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1257G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1441					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)		TCTGAGGAAGAGTTGTGCAAT	0.627																																						.											0													76	89	85					3																	47042507		2118	4226	6344	SO:0001583	missense	23218			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.4322A>G	3.37:g.47042507A>G	ENSP00000415034:p.Glu1441Gly		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.660380|4.660380	0.88154|0.88154	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.60672|.	0.22;0.17|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72415|0.72415	0.3457|0.3457	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.72593|0.72593	-0.4246|-0.4246	10|5	0.87932|.	D|.	0|.	.|.	13.502|13.502	0.61462|0.61462	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1441|.	Q6ZNJ1|.	NBEL2_HUMAN|.	G|G	1257;1441|729	ENSP00000292309:E1257G;ENSP00000415034:E1441G|.	ENSP00000292309:E1257G|.	E|S	+|+	2|1	0|0	NBEAL2|NBEAL2	47017511|47017511	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.980000|0.980000	0.70556|0.70556	9.064000|9.064000	0.93933|0.93933	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		G	47042507	A	G	47042507	3	3	48	1	0	0	0	0	1	0	0	0	10189	304	11	2	4432	2	NBEAL2	3	47042507	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2549673	47042507	150979923	27	4696											
COL7A1	1294	hgsc.bcm.edu;ucsc.edu	37	chr3	48602898	48602898	+	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	acagcatggagctgggagccGgcagtgtctgcagcataact	10	7	14	10	1	1	0	0	0	1	0	1	2	1	2	1	3	6	5	1	3	1	1	rs116591500	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:48602898G>A	ENST00000328333.8	-	115	8579	c.8472C>T	c.(8470-8472)gcC>gcT	p.A2824A	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000454817.1_Silent_p.A2792A|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2824	Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTGGGAGCCGGCAGTGTCTG	0.652													G|||	13	0.00259585	0.0098	0	5008	,	,		17924	0		0	False		,,,				2504	0					.											0								G		35,4371	38.4+/-70.7	0,35,2168	32	37	35		8472	-6.8	0	3	dbSNP_132	35	0,8600		0,0,4300	no	coding-synonymous	COL7A1	NM_000094.3		0,35,6468	AA,AG,GG		0.0,0.7944,0.2691		2824/2945	48602898	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8472C>T	3.37:g.48602898G>A			Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		A	48602898	G	A	48602898	2	1	48	1	0	0	0	0	0	0	0	1	3704	1103	39	1		1	COL7A1	3	48602898	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	1560391	48602898	149419532	28	4697											
CHDH	55349	mdanderson.org	37	chr3	53856589	53856589	+	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	ctcaaatagcaccctgctcaCaagcgtctcggcctcggcct	8	8	8	17	3	3	0	2	0	1	0	5	0	3	0	3	2	3	2	3	2	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:53856589C>T	ENST00000315251.6	-	4	1221	c.784G>A	c.(784-786)Gtg>Atg	p.V262M		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	262					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		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)	Choline(DB00122)	ACCCTGCTCACAAGCGTCTCG	0.632																																						.											0													113	91	99					3																	53856589		2203	4300	6503	SO:0001583	missense	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.784G>A	3.37:g.53856589C>T	ENSP00000319851:p.Val262Met		Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629633	0.67015	.	.	ENSG00000016391	ENST00000315251	T	0.78126	-1.15	5.65	5.65	0.86999	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.271361	0.37348	N	0.002126	D	0.90967	0.7160	M	0.93978	3.48	0.43852	D	0.996441	D	0.53619	0.961	P	0.62813	0.907	D	0.92356	0.5893	10	0.87932	D	0	-27.6343	19.5069	0.95121	0.0:1.0:0.0:0.0	.	262	Q8NE62	CHDH_HUMAN	M	262	ENSP00000319851:V262M	ENSP00000319851:V262M	V	-	1	0	CHDH	53831629	0.979000	0.34478	0.126000	0.21872	0.538000	0.34931	2.244000	0.43124	2.941000	0.99782	0.655000	0.94253	GTG		0.632	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		T	53856589	C	T	53856589	3	4	48	1	0	0	0	0	1	0	0	0	3333	478	17	4	1024	4	CHDH	3	53856589	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	5253691	53856589	144165841	29	4698											
EPHA3	2042	mdanderson.org	37	chr3	89498483	89498483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctctgggaggtgatgTcttatggagagagaccatac	9	13	13	6	0	2	3	0	1	2	2	3	6	2	4	1	3	1	1	1	3	2	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:89498483T>C	ENST00000336596.2	+	14	2680	c.2455T>C	c.(2455-2457)Tct>Cct	p.S819P	EPHA3_ENST00000494014.1_Missense_Mutation_p.S819P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	819	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)		GGAGGTGATGTCTTATGGAGA	0.458										TSP Lung(6;0.00050)																												.											0													267	243	251					3																	89498483		2203	4300	6503	SO:0001583	missense	2042			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.2455T>C	3.37:g.89498483T>C	ENSP00000337451:p.Ser819Pro		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664232	0.88251	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.64085	-0.08;-0.08	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81564	0.4849	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84556	0.0647	9	.	.	.	.	15.3454	0.74334	0.0:0.0:0.0:1.0	.	819	P29320	EPHA3_HUMAN	P	819	ENSP00000337451:S819P;ENSP00000419190:S819P	.	S	+	1	0	EPHA3	89581173	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.993000	0.88291	2.030000	0.59900	0.533000	0.62120	TCT		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		C	89498483	T	C	89498483	3	2	48	1	0	0	0	0	1	0	0	0	5168	1667	58	2	2535	2	EPHA3	3	89498483	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	35641894	89498483	108523947	30	4699											
OR5H6	79295	mdanderson.org	37	chr3	97983656	97983656	+	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	cttcatgctttaatccatgaAgctttttcattcagattaac	11	17	4	9	0	3	2	3	1	0	1	4	2	4	2	1	0	3	2	1	0	3	7			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:97983656A>G	ENST00000383696.2	+	1	569	c.528A>G	c.(526-528)gaA>gaG	p.E176E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TAATCCATGAAGCTTTTTCAT	0.338																																						.											0													84	85	85					3																	97983656		2203	4297	6500	SO:0001819	synonymous_variant	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.528A>G	3.37:g.97983656A>G			Q6IF88	Silent	SNP	ENST00000383696.2	37	CCDS33800.1																																																																																				0.338	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			G	97983656	A	G	97983656	2	3	48	1	0	0	0	0	0	0	0	1	11163	69	3	2		2	OR5H6	3	97983656	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8485173	97983656	100038774	31	4700											
NIT2	56954	mdanderson.org	37	chr3	100073671	100073671	+	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	caatcgtgtattcagacataGgtaagattttcctgggcatg	11	13	10	7	1	1	2	1	0	0	2	3	2	2	2	1	2	0	3	1	2	4	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:100073671G>A	ENST00000394140.4	+	9	830	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	247	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TTCAGACATAGGTAAGATTTT	0.483																																						.											0													160	151	154					3																	100073671		2203	4300	6503	SO:0001630	splice_region_variant	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.739+1G>A	3.37:g.100073671G>A			B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102526	0.76983	.	.	ENSG00000114021	ENST00000394140	T	0.76316	-1.01	5.63	5.63	0.86233	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	L	0.58810	1.83	0.80722	D	1	P	0.39903	0.694	B	0.34452	0.183	T	0.75196	-0.3403	10	0.38643	T	0.18	-17.7733	19.2824	0.94057	0.0:0.0:1.0:0.0	.	247	Q9NQR4	NIT2_HUMAN	N	247	ENSP00000377696:D247N	ENSP00000377696:D247N	D	+	1	0	NIT2	101556361	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	8.499000	0.90494	2.664000	0.90586	0.591000	0.81541	GAC		0.483	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	Missense_Mutation	A	100073671	G	A	100073671	5	1	48	1	0	0	0	0	0	0	1	0	10434	1014	35	4	773	4	NIT2	3	100073671	Splice_Site	SNP	G	TCGA-KN-8433-01A-11D-2310-10	2090015	100073671	97948759	32	4701											
HCLS1	3059	hgsc.bcm.edu	37	chr3	121351315	121351315	+	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	tcaggctcgggctcaggctcGggctcaggctcaggctctgc	4	8	15	14	2	5	0	4	0	1	0	7	0	5	0	0	6	1	6	0	6	0	0	rs150627065|rs372720825|rs80289672	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:121351315G>A	ENST00000314583.3	-	12	1195	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	HCLS1_ENST00000428394.2_Silent_p.P331P|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	368					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)		gctcaggctcgggctcaggct	0.607																																						.											0			GRCh37	CI045897	HCLS1	I	rs80289672						145	140	142					3																	121351315		2203	4300	6503	SO:0001819	synonymous_variant	3059				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.1104C>T	3.37:g.121351315G>A			B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	CCDS3003.1																																																																																				0.607	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		A	121351315	G	A	121351315	2	1	48	1	0	0	0	0	0	0	0	1	6995	1103	39	1		1	HCLS1	3	121351315	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	21277644	121351315	76671115	33	4702											
IGSF10	285313	mdanderson.org	37	chr3	151165120	151165120	+	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	gaatgttgattggttgtgccTtgtatttggcttgacatggt	6	18	13	4	0	0	2	0	2	0	0	0	3	0	2	1	3	1	4	1	3	2	7			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:151165120T>C	ENST00000282466.3	-	4	2648	c.2649A>G	c.(2647-2649)caA>caG	p.Q883Q		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	883					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)			TGGTTGTGCCTTGTATTTGGC	0.423																																						.											0													357	356	356					3																	151165120		2203	4300	6503	SO:0001819	synonymous_variant	285313			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.2649A>G	3.37:g.151165120T>C			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																				0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151165120	T	C	151165120	2	2	48	1	0	0	0	0	0	0	0	1	7597	1606	56	2		2	IGSF10	3	151165120	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	29813805	151165120	46857310	34	4703											
NMD3	51068	mdanderson.org	37	chr3	160945096	160945096	+	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	aatccagggaacttcttgctTtgtgcttgaaaaaaatcaaa	15	12	7	7	0	2	1	1	1	1	0	3	2	3	2	1	1	3	2	1	1	6	4	rs138466882		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:160945096T>C	ENST00000460469.1	+	3	696	c.241T>C	c.(241-243)Ttg>Ctg	p.L81L	NMD3_ENST00000351193.2_Silent_p.L81L|NMD3_ENST00000472947.1_Silent_p.L81L|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	81					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ACTTCTTGCTTTGTGCTTGAA	0.353																																						.											0								T		1,4405	2.1+/-5.4	0,1,2202	121	117	118		241	5.6	1	3	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	NMD3	NM_015938.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		81/504	160945096	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.241T>C	3.37:g.160945096T>C			D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	CCDS3194.1																																																																																				0.353	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		C	160945096	T	C	160945096	2	2	48	1	0	0	0	0	0	0	0	1	10488	1838	64	4		4	NMD3	3	160945096	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	9779976	160945096	37077334	35	4704											
WDR49	151790	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	167245753	167245753	+	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	catgaggttggaatgatcttAtcagagttggggccttggtg	8	13	15	5	0	2	3	1	2	1	1	2	4	2	4	1	5	0	2	1	5	2	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:167245753A>T	ENST00000308378.3	-	11	1708	c.1403T>A	c.(1402-1404)aTa>aAa	p.I468K	WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.I293K|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	468										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATGATCTTATCAGAGTTGG	0.398																																						.											0													164	153	157					3																	167245753		2203	4300	6503	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1403T>A	3.37:g.167245753A>T	ENSP00000311343:p.Ile468Lys		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779596	0.31502	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.37915	1.43;1.17	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.916062	0.09445	N	0.801255	T	0.34571	0.0902	L	0.47716	1.5	0.58432	D	0.999999	B	0.30068	0.267	B	0.24701	0.055	T	0.05599	-1.0875	10	0.39692	T	0.17	.	13.08	0.59109	1.0:0.0:0.0:0.0	.	468	Q8IV35	WDR49_HUMAN	K	468;293	ENSP00000311343:I468K;ENSP00000420508:I293K	ENSP00000311343:I468K	I	-	2	0	WDR49	168728447	0.941000	0.31946	0.005000	0.12908	0.018000	0.09664	4.671000	0.61590	2.083000	0.62718	0.445000	0.29226	ATA		0.398	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		T	167245753	A	T	167245753	3	4	48	1	0	0	0	0	1	0	0	0	17299	449	16	5	710	5	WDR49	3	167245753	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	6300657	167245753	30776677	36	4705											
ALG3	10195	broad.mit.edu;mdanderson.org	37	chr3	183960376	183960376	+	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	ccagagctgcagcaggatgaCggcatggcatatgtgcaggg	10	6	16	9	1	0	2	0	1	0	1	0	3	0	3	1	4	4	6	1	4	1	1	rs375976807		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:183960376C>T	ENST00000397676.3	-	9	1273	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000455059.1_Missense_Mutation_p.V375I|ALG3_ENST00000418734.2_Missense_Mutation_p.V359I|ALG3_ENST00000463495.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.V367I	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	415					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCAGGATGACGGCATGGCAT	0.592																																						.											0								C	ILE/VAL,ILE/VAL	0,4082		0,0,2041	63	68	66		1099,1243	4.6	0.9	3		66	1,8435		0,1,4217	no	missense,missense	ALG3	NM_001006941.2,NM_005787.5	29,29	0,1,6258	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	367/391,415/439	183960376	1,12517	2041	4218	6259	SO:0001583	missense	10195			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1243G>A	3.37:g.183960376C>T	ENSP00000380793:p.Val415Ile		A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.826|4.826	0.153562|0.153562	0.09185|0.09185	0.0|0.0	1.19E-4|1.19E-4	ENSG00000214160|ENSG00000214160	ENST00000446569|ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	.|D;D;D;D	.|0.87029	.|-1.63;-2.2;-2.03;-2.04	5.5|5.5	4.63|4.63	0.57726|0.57726	.|.	.|0.318671	.|0.29225	.|N	.|0.012761	T|T	0.73567|0.73567	0.3603|0.3603	N|N	0.19112|0.19112	0.55|0.55	0.32933|0.32933	D|D	0.517347|0.517347	.|B;B;B;B	.|0.12013	.|0.004;0.005;0.0;0.001	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001	T|T	0.66044|0.66044	-0.6021|-0.6021	5|10	.|0.05721	.|T	.|0.95	-15.9802|-15.9802	10.001|10.001	0.41929|0.41929	0.0:0.774:0.148:0.078|0.0:0.774:0.148:0.078	.|.	.|367;359;375;415	.|A8JZZ6;B4DS50;C9J7S5;Q92685	.|.;.;.;ALG3_HUMAN	H|I	318|359;415;367;375	.|ENSP00000402976:V359I;ENSP00000380793:V415I;ENSP00000402744:V367I;ENSP00000397613:V375I	.|ENSP00000380793:V415I	R|V	-|-	2|1	0|0	ALG3|ALG3	185443070|185443070	0.285000|0.285000	0.24296|0.24296	0.944000|0.944000	0.38274|0.38274	0.699000|0.699000	0.40488|0.40488	0.758000|0.758000	0.26447|0.26447	1.323000|1.323000	0.45263|0.45263	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.592	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		T	183960376	C	T	183960376	3	4	48	1	0	0	0	0	1	0	0	0	520	536	19	1	77	1	ALG3	3	183960376	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	16714623	183960376	14062054	37	4706											
AFAP1	60312	mdanderson.org	37	chr4	7770723	7770723	+	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	gttttccagggtccggtgccGgaacactggagacttaacgg	8	9	14	10	3	0	1	0	0	0	1	2	3	2	2	3	5	3	1	3	5	2	3	rs2285761	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:7770723G>T	ENST00000360265.4	-	15	2248	c.2014C>A	c.(2014-2016)Cgg>Agg	p.R672R	AFAP1_ENST00000420658.1_Silent_p.R756R|AFAP1_ENST00000382543.3_Silent_p.R756R|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.R672R|AFAP1-AS1_ENST00000608442.1_RNA			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	672						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						GTCCGGTGCCGGAACACTGGA	0.557													T|||	1854	0.370208	0.264	0.3372	5008	,	,		16548	0.6567		0.1849	False		,,,				2504	0.4325					.											0								T	,	1053,3353	708.6+/-407.6	127,799,1277	75	90	85		2266,2014	1	0.1	4	dbSNP_100	85	1652,6948	736.1+/-407.0	175,1302,2823	no	coding-synonymous,coding-synonymous	AFAP1	NM_001134647.1,NM_198595.2	,	302,2101,4100	TT,TG,GG		19.2093,23.8992,20.7981	,	756/815,672/731	7770723	2705,10301	2203	4300	6503	SO:0001819	synonymous_variant	60312			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.2014C>A	4.37:g.7770723G>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	CCDS3397.1																																																																																				0.557	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		T	7770723	G	T	7770723	2	4	48	1	0	0	0	0	0	0	0	1	353	1115	39	5		5	AFAP1	4	7770723	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10		7770723	183383553	38	4707											
PPARGC1A	10891	mdanderson.org	37	chr4	23814445	23814445	+	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	tcatactctctgcgatattcTtccctcttcagcctctcgtg	5	16	5	15	2	6	0	2	0	4	0	9	1	7	0	2	0	3	0	2	0	2	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:23814445T>C	ENST00000264867.2	-	10	2063	c.1944A>G	c.(1942-1944)gaA>gaG	p.E648E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	648	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				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)	p.E648D(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCGATATTCTTCCCTCTTCA	0.463																																					Esophageal Squamous(29;694 744 13796 34866 44181)	.											1	Substitution - Missense(1)	lung(1)											192	178	183					4																	23814445		2203	4300	6503	SO:0001819	synonymous_variant	10891			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.1944A>G	4.37:g.23814445T>C			B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																				0.463	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		C	23814445	T	C	23814445	2	2	48	1	0	0	0	0	0	0	0	1	12300	1606	56	2		2	PPARGC1A	4	23814445	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	16043722	23814445	167339831	39	4708											
SEC31A	22872	mdanderson.org	37	chr4	83774804	83774804	+	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	acattccctgcacaaatataGcagagacatgcttgagtctg	13	10	8	10	0	1	2	0	1	1	1	2	3	2	2	1	0	3	3	1	0	3	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:83774804G>A	ENST00000395310.2	-	18	2255	c.2073C>T	c.(2071-2073)tgC>tgT	p.C691C	SEC31A_ENST00000509142.1_Silent_p.C691C|SEC31A_ENST00000432794.1_Silent_p.C691C|SEC31A_ENST00000311785.7_Silent_p.C691C|SEC31A_ENST00000513858.1_Silent_p.C652C|SEC31A_ENST00000355196.2_Silent_p.C691C|SEC31A_ENST00000500777.2_Silent_p.C652C|SEC31A_ENST00000505472.1_Silent_p.C691C|SEC31A_ENST00000264405.5_Silent_p.C424C|SEC31A_ENST00000448323.1_Silent_p.C691C|SEC31A_ENST00000326950.5_Silent_p.C652C|SEC31A_ENST00000508502.1_Silent_p.C691C|SEC31A_ENST00000505984.1_Silent_p.C652C|SEC31A_ENST00000443462.2_Silent_p.C686C|SEC31A_ENST00000348405.4_Silent_p.C652C|SEC31A_ENST00000508479.1_Silent_p.C691C	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)	691					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)				CACAAATATAGCAGAGACATG	0.393																																						.											0													115	112	113					4																	83774804		2203	4300	6503	SO:0001819	synonymous_variant	22872			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.2073C>T	4.37:g.83774804G>A			B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1																																																																																				0.393	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		A	83774804	G	A	83774804	2	1	48	1	0	0	0	0	0	0	0	1	13998	963	34	4		4	SEC31A	4	83774804	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	59960359	83774804	107379472	40	4709											
DMP1	1758	mdanderson.org	37	chr4	88584283	88584283	+	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	gaggaaagccattctgaggaAgacgacagtgactctcaaga	15	6	12	8	1	2	4	1	2	2	2	3	8	2	6	1	2	1	0	1	2	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:88584283A>G	ENST00000339673.6	+	6	1452	c.1353A>G	c.(1351-1353)gaA>gaG	p.E451E	DMP1_ENST00000282479.7_Silent_p.E435E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	451					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)		ATTCTGAGGAAGACGACAGTG	0.537																																						.											0													85	76	79					4																	88584283		2203	4300	6503	SO:0001819	synonymous_variant	1758			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.1353A>G	4.37:g.88584283A>G			A1L4L3|O43265	Silent	SNP	ENST00000339673.6	37	CCDS3623.1																																																																																				0.537	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			G	88584283	A	G	88584283	2	3	48	1	0	0	0	0	0	0	0	1	4583	69	3	2		2	DMP1	4	88584283	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4809479	88584283	102569993	41	4710											
HERC6	55008	mdanderson.org	37	chr4	89363472	89363472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctgaaactttcagtgaaAgagatcacccaacatcaata	16	9	6	10	0	3	3	3	2	0	1	4	4	4	3	2	0	2	0	2	0	5	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:89363472A>G	ENST00000264346.7	+	23	2988	c.2929A>G	c.(2929-2931)Aga>Gga	p.R977G	HERC6_ENST00000380265.5_Missense_Mutation_p.R941G	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	977	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)		TTTCAGTGAAAGAGATCACCC	0.388																																						.											0													85	81	82					4																	89363472		1914	4133	6047	SO:0001583	missense	55008			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.2929A>G	4.37:g.89363472A>G	ENSP00000264346:p.Arg977Gly		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	A	7.415	0.635509	0.14322	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.40225	1.04;1.04	4.69	-0.658	0.11428	HECT (4);	2.080580	0.01635	N	0.023721	T	0.30166	0.0756	N	0.20401	0.57	0.39313	D	0.9651	B;B	0.30146	0.228;0.27	B;B	0.28385	0.053;0.089	T	0.07252	-1.0782	10	0.38643	T	0.18	.	9.0489	0.36363	0.5716:0.0:0.4284:0.0	.	941;977	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	G	941;977	ENSP00000369617:R941G;ENSP00000264346:R977G	ENSP00000264346:R977G	R	+	1	2	HERC6	89582495	0.026000	0.19158	0.187000	0.23214	0.651000	0.38670	0.056000	0.14256	0.032000	0.15435	0.482000	0.46254	AGA		0.388	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			G	89363472	A	G	89363472	3	3	48	1	0	0	0	0	1	0	0	0	7062	64	3	2	2816	2	HERC6	4	89363472	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	779189	89363472	101790804	42	4711											
NHEDC1	150159	mdanderson.org	37	chr4	103826769	103826769	+	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	tagatatgtggttaaaattcGaacacataatgccaaactta	17	12	6	6	1	0	1	0	0	0	1	1	2	0	1	1	1	3	1	1	1	8	6	rs200075071		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:103826769G>A	ENST00000296422.7	-	11	1375	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	SLC9B1_ENST00000394789.3_Nonsense_Mutation_p.R412*|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	412					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)										GTTAAAATTCGAACACATAAT	0.343																																						.											0													46	48	48					4																	103826769		2200	4294	6494	SO:0001587	stop_gained	150159			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.1234C>T	4.37:g.103826769G>A	ENSP00000296422:p.Arg412*		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Nonsense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313112	0.81358	.	.	ENSG00000164037	ENST00000394789;ENST00000296422	.	.	.	3.47	2.61	0.31194	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7024	9.543	0.39264	0.0:0.0:0.62:0.38	.	.	.	.	X	412	.	ENSP00000296422:R412X	R	-	1	2	SLC9B1	104046218	0.997000	0.39634	0.506000	0.27664	0.716000	0.41182	2.574000	0.46016	0.760000	0.33108	0.484000	0.47621	CGA		0.343	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		A	103826769	G	A	103826769	4	1	48	1	0	0	0	0	0	1	0	0	10400	1066	37	1	421	1	NHEDC1	4	103826769	Nonsense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	14463297	103826769	87327507	43	4712											
NHEDC1	150159	mdanderson.org	37	chr4	103870560	103870560	+	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	ctaagattgaccaggtcataCaccatatcacaaacagtata	17	9	5	10	0	2	2	2	1	0	1	2	2	2	2	2	1	2	1	2	1	6	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:103870560C>T	ENST00000296422.7	-	4	377	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	SLC9B1_ENST00000394789.3_Missense_Mutation_p.C79Y	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	79					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)										CCAGGTCATACACCATATCAC	0.328																																						.											0													52	52	52					4																	103870560		2173	4291	6464	SO:0001583	missense	150159			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.236G>A	4.37:g.103870560C>T	ENSP00000296422:p.Cys79Tyr		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096865	0.37048	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000452285	T;T	0.18338	2.22;2.24	3.71	1.9	0.25705	.	0.621647	0.13757	N	0.364841	T	0.28995	0.0720	M	0.61703	1.905	0.25139	N	0.990519	P;P	0.44627	0.839;0.806	P;P	0.53760	0.734;0.536	T	0.07731	-1.0757	10	0.72032	D	0.01	-2.2718	8.5852	0.33653	0.1443:0.3519:0.5038:0.0	.	79;79	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	Y	79	ENSP00000378269:C79Y;ENSP00000296422:C79Y	ENSP00000296422:C79Y	C	-	2	0	SLC9B1	104090009	0.820000	0.29190	0.417000	0.26559	0.034000	0.12701	0.289000	0.18957	0.328000	0.23435	0.555000	0.69702	TGT		0.328	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		T	103870560	C	T	103870560	3	4	48	1	0	0	0	0	1	0	0	0	10400	478	17	4	1447	4	NHEDC1	4	103870560	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	43791	103870560	87283716	44	4713											
FBXW7	55294	mdanderson.org	37	chr4	153332484	153332484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtatagaatggggaggAgagttggtgaacgggcaggt	10	11	18	2	1	0	3	0	1	0	2	0	5	0	4	0	6	1	3	0	6	4	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:153332484A>G	ENST00000281708.4	-	2	1701	c.472T>C	c.(472-474)Tcc>Ccc	p.S158P	FBXW7_ENST00000604872.1_Missense_Mutation_p.S158P|FBXW7_ENST00000603841.1_Missense_Mutation_p.S158P|FBXW7_ENST00000603548.1_Missense_Mutation_p.S158P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	158					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATGGGGAGGAGAGTTGGTGA	0.348			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	.		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	0													173	139	151					4																	153332484		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.472T>C	4.37:g.153332484A>G	ENSP00000281708:p.Ser158Pro		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900813	0.33535	.	.	ENSG00000109670	ENST00000281708	T	0.56941	0.43	5.54	5.54	0.83059	.	1.610430	0.02973	N	0.144619	T	0.47173	0.1431	N	0.19112	0.55	0.80722	D	1	B	0.34214	0.442	B	0.31869	0.137	T	0.10520	-1.0626	10	0.56958	D	0.05	-3.3189	15.6888	0.77434	1.0:0.0:0.0:0.0	.	158	Q969H0	FBXW7_HUMAN	P	158	ENSP00000281708:S158P	ENSP00000281708:S158P	S	-	1	0	FBXW7	153551934	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.572000	0.60886	2.114000	0.64651	0.528000	0.53228	TCC		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			G	153332484	A	G	153332484	3	3	48	1	0	0	0	0	1	0	0	0	5769	304	11	2	2111	2	FBXW7	4	153332484	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	49461924	153332484	37821792	45	4714											
FHDC1	85462	broad.mit.edu	37	chr4	153896828	153896829	+	Frame_Shift_Ins	INS	-	-	G																															ccgactccagacccagaggcINSggggacccggaggaaggcgg																								rs372925250		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:153896828_153896829insG	ENST00000511601.1	+	12	2573_2574	c.2385_2386insG	c.(2386-2388)gggfs	p.G796fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.G796fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	796									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACCCAGAGGCGGGGACCCGGA	0.614																																						.											0																																										SO:0001589	frameshift_variant	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2389dupG	4.37:g.153896832_153896832dupG	ENSP00000427567:p.Gly796fs			Frame_Shift_Ins	INS	ENST00000511601.1	37	CCDS34081.1																																																																																				0.614	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		G	153896829	-	G	153896828	7	5	48	1	0	1	1	0	0	0	0	0	5876	755	27	0	2427	0	FHDC1	4	153896828	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	564344	153896828	37257448	46	4715											
GRIA2	2891	mdanderson.org	37	chr4	158257800	158257800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttgaagatggaagagAaacacaaagtagtgaatcaa	19	7	12	3	0	1	4	1	2	0	2	1	7	1	6	0	2	1	2	0	2	7	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:158257800A>G	ENST00000264426.9	+	11	2024	c.1745A>G	c.(1744-1746)gAa>gGa	p.E582G	GRIA2_ENST00000393815.2_Missense_Mutation_p.E535G|GRIA2_ENST00000507898.1_Missense_Mutation_p.E535G|GRIA2_ENST00000296526.7_Missense_Mutation_p.E582G|GRIA2_ENST00000449365.1_Missense_Mutation_p.E535G	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	582					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GATGGAAGAGAAACACAAAGT	0.423																																						.											0													151	147	148					4																	158257800		2203	4300	6503	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1745A>G	4.37:g.158257800A>G	ENSP00000264426:p.Glu582Gly		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460118	0.43736	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.66	5.66	0.87406	Ionotropic glutamate receptor (2);	0.292159	0.34362	N	0.004035	T	0.42426	0.1202	N	0.25789	0.76	0.53688	D	0.999979	B;B;B	0.31193	0.312;0.141;0.094	B;B;B	0.28305	0.072;0.088;0.072	T	0.41520	-0.9504	10	0.62326	D	0.03	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	582;582;535	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	G	535;535;582;582;535	ENSP00000426845:E535G;ENSP00000377403:E535G;ENSP00000296526:E582G;ENSP00000264426:E582G;ENSP00000389837:E535G	ENSP00000264426:E582G	E	+	2	0	GRIA2	158477250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.928000	0.70088	2.279000	0.76181	0.533000	0.62120	GAA		0.423	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			G	158257800	A	G	158257800	3	3	48	1	0	0	0	0	1	0	0	0	6768	246	9	4	1787	4	GRIA2	4	158257800	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4360972	158257800	32896476	47	4716											
CPE	1363	mdanderson.org	37	chr4	166385729	166385729	+	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	ccagatggctttgagaaggcAgcgtctcaggtgagtgccag	9	8	15	9	1	1	3	1	2	1	2	2	4	1	3	2	3	2	2	2	3	1	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:166385729A>G	ENST00000402744.4	+	2	775	c.495A>G	c.(493-495)gcA>gcG	p.A165A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	165					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGAGAAGGCAGCGTCTCAGG	0.473											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													111	96	101					4																	166385729		2203	4300	6503	SO:0001819	synonymous_variant	1363			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.495A>G	4.37:g.166385729A>G		1854	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Silent	SNP	ENST00000402744.4	37	CCDS3810.1																																																																																				0.473	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		G	166385729	A	G	166385729	2	3	48	1	0	0	0	0	0	0	0	1	3799	175	7	2		2	CPE	4	166385729	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8127929	166385729	24768547	48	4717											
DDX60L	91351	mdanderson.org	37	chr4	169374381	169374381	+	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	gaaaagccacacagaggcaaCgcagtctgcagaaatcttcc	15	5	9	12	1	2	2	0	0	2	2	3	3	3	2	2	1	3	3	2	1	4	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.R297L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAGAGGCAACGCAGTCTGCA	0.458																																						.											1	Substitution - Missense(1)	lung(1)											88	92	90					4																	169374381		2003	4176	6179	SO:0001583	missense	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.890G>A	4.37:g.169374381C>T	ENSP00000422423:p.Arg297His		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254392	0.05829	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.15718	2.4;2.4;2.4;3.06	3.3	-1.09	0.09904	.	0.782659	0.10119	N	0.713632	T	0.04452	0.0122	N	0.01009	-1.055	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.44360	-0.9333	10	0.14656	T	0.56	.	6.5863	0.22622	0.0:0.3112:0.0:0.6888	.	297;297;297	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	297;297;297;25	ENSP00000260184:R297H;ENSP00000422423:R297H;ENSP00000422202:R297H;ENSP00000421026:R25H	ENSP00000260184:R297H	R	-	2	0	DDX60L	169610956	0.015000	0.18098	0.001000	0.08648	0.759000	0.43091	0.485000	0.22324	-0.458000	0.07023	-0.444000	0.05651	CGT		0.458	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		T	169374381	C	T	169374381	3	4	48	1	0	0	0	0	1	0	0	0	4379	536	19	1	4354	1	DDX60L	4	169374381	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2988652	169374381	21779895	49	4718											
C4orf27	54969	mdanderson.org	37	chr4	170678993	170678993	+	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	ggcagtacctgcggcccctcTccgccgggcctgcgcttccc	2	7	12	20	4	1	0	0	0	1	0	3	0	2	0	7	3	3	3	7	3	1	2	rs11540095	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:170678993T>C	ENST00000393381.2	-	1	111	c.36A>G	c.(34-36)ggA>ggG	p.G12G		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	12						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCGGCCCCTCTCCGCCGGGCC	0.692													C|||	3893	0.777356	0.6899	0.7954	5008	,	,		12693	0.881		0.7843	False		,,,				2504	0.7689					.											0								C		2972,1212		1062,848,182	5	6	6		36	1.7	0.7	4	dbSNP_120	6	6667,1561		2735,1197,182	no	coding-synonymous	C4orf27	NM_017867.2		3797,2045,364	CC,CT,TT		18.9718,28.9675,22.3413		12/347	170678993	9639,2773	2092	4114	6206	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.36A>G	4.37:g.170678993T>C				Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.692	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		C	170678993	T	C	170678993	2	2	48	1	0	0	0	0	0	0	0	1	2258	1538	54	2		2	C4orf27	4	170678993	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1304612	170678993	20475283	50	4719											
FRG1	2483	mdanderson.org	37	chr4	190883028	190883028	+	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	cttaaaataagtaaagaagaCagtaaaattcttaaaaaggc	22	9	6	4	0	1	2	0	0	1	2	1	2	1	2	0	1	0	2	0	1	11	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:190883028C>T	ENST00000226798.4	+	8	903	c.681C>T	c.(679-681)gaC>gaT	p.D227D		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	227					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GTAAAGAAGACAGTAAAATTC	0.323																																						.											0													77	95	89					4																	190883028		2158	4226	6384	SO:0001819	synonymous_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.681C>T	4.37:g.190883028C>T			A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1																																																																																				0.323	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		T	190883028	C	T	190883028	2	4	48	1	0	0	0	0	0	0	0	1	6046	477	17	4		4	FRG1	4	190883028	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	20204035	190883028	271248	51	4720											
FRG1	2483	mdanderson.org	37	chr4	190883051	190883051	+	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	taaaattcttaaaaaggctcGgaaagatggatttttgcatg	15	13	9	4	1	1	1	0	0	1	1	2	3	1	3	0	3	1	2	0	3	6	5	rs1803593		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:190883051G>A	ENST00000226798.4	+	8	926	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	235					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAAAAGGCTCGGAAAGATGGA	0.328																																						.											0													81	99	93					4																	190883051		2158	4213	6371	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.704G>A	4.37:g.190883051G>A	ENSP00000226798:p.Arg235Gln		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904307	0.52333	.	.	ENSG00000109536	ENST00000226798	T	0.34472	1.36	4.07	3.23	0.37069	.	0.049801	0.85682	D	0.000000	T	0.27967	0.0689	.	.	.	0.58432	D	0.999998	B	0.30439	0.279	B	0.28385	0.089	T	0.07404	-1.0774	9	0.48119	T	0.1	1.7828	10.172	0.42915	0.1019:0.0:0.8981:0.0	rs1803593;rs3202757;rs17435102	235	Q14331	FRG1_HUMAN	Q	235	ENSP00000226798:R235Q	ENSP00000226798:R235Q	R	+	2	0	FRG1	191120045	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.403000	0.79983	0.849000	0.35215	-0.359000	0.07587	CGG		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190883051	G	A	190883051	3	1	48	1	0	0	0	0	1	0	0	0	6046	1116	39	1	734	1	FRG1	4	190883051	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	23	190883051	271225	52	4721											
PRDM9	56979	mdanderson.org	37	chr5	23527721	23527721	+	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	gggagtgtgggcggggctttCgcaataagtcacacctcctc	7	9	14	11	2	1	0	1	0	0	0	4	1	2	1	2	4	0	2	2	4	2	2	rs201643800		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:23527721C>A	ENST00000296682.3	+	11	2706	c.2524C>A	c.(2524-2526)Cgc>Agc	p.R842S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	842					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						GCGGGGCTTTCGCAATAAGTC	0.587										HNSCC(3;0.000094)																												.											0													64	74	71					5																	23527721		2182	4295	6477	SO:0001583	missense	56979			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.2524C>A	5.37:g.23527721C>A	ENSP00000296682:p.Arg842Ser		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.150552	0.00029	.	.	ENSG00000164256	ENST00000296682	T	0.07567	3.18	2.67	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.01438	-0.865	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.44483	-0.9325	9	0.02654	T	1	0.1175	0.5976	0.00739	0.4516:0.2128:0.1287:0.207	.	842	Q9NQV7	PRDM9_HUMAN	S	842	ENSP00000296682:R842S	ENSP00000296682:R842S	R	+	1	0	PRDM9	23563478	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.822000	0.04448	0.037000	0.15575	-0.566000	0.04163	CGC		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23527721	C	A	23527721	3	1	48	1	0	0	0	0	1	0	0	0	12463	884	31	5	2562	5	PRDM9	5	23527721	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10		23527721	157387539	53	4722											
RAI14	26064	mdanderson.org	37	chr5	34824215	34824215	+	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	aaaataagcaatcttaaggaAcaccttgcaagcaaggaagt	19	7	8	7	0	1	0	0	0	1	0	1	2	1	2	1	2	4	3	1	2	9	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:34824215A>G	ENST00000265109.3	+	15	2555	c.2268A>G	c.(2266-2268)gaA>gaG	p.E756E	RAI14_ENST00000512629.1_Silent_p.E727E|RAI14_ENST00000515799.1_Silent_p.E759E|RAI14_ENST00000428746.2_Silent_p.E756E|RAI14_ENST00000506376.1_Silent_p.E748E|RAI14_ENST00000397449.1_Silent_p.E749E|RAI14_ENST00000503673.1_Silent_p.E756E	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	756						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)					ATCTTAAGGAACACCTTGCAA	0.423																																						.											0													80	77	78					5																	34824215		2203	4300	6503	SO:0001819	synonymous_variant	26064			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.2268A>G	5.37:g.34824215A>G			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.423	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		G	34824215	A	G	34824215	2	3	48	1	0	0	0	0	0	0	0	1	13008	40	2	2		2	RAI14	5	34824215	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	11296494	34824215	146091045	54	4723											
HCN1	348980	broad.mit.edu;hgsc.bcm.edu	37	chr5	45262024	45262025	+	Stop_Codon_Ins	INS	-	-	A																															tttgacaatcagcagggatcINSataaatttgaagcaaatcgt																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262024_45262025insA	ENST00000303230.4	-	0	2728_2729					NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1						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						CAGCAGGGATCATAAATTTGAA	0.431																																						.											0																																										SO:0001567	stop_retained_variant	348980			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.2672dupT	5.37:g.45262025_45262025dupA	ENSP00000307342:p.*891Leuext*35			Missense_Mutation	INS	ENST00000303230.4	37	CCDS3952.1																																																																																				0.431	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262025	-	A	45262024	7	5	48	1	0	1	1	0	0	0	0	0	6996	837	29	0	4	0	HCN1	5	45262024	Stop_Codon_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	10437809	45262024	135653236	55	4724	115	3									
HCN1	348980	bcgsc.ca	37	chr5	45262025	45262026	+	Stop_Codon_Ins	INS	-	-	A																															ttgacaatcagcagggatcaINStaaatttgaagcaaatcgtg																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262025_45262026insA	ENST00000303230.4	-	0	2727_2728					NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1						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						AGCAGGGATCATAAATTTGAAG	0.431																																						.											0																																										SO:0001567	stop_retained_variant	348980			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.2670dupT	5.37:g.45262025_45262025dupA	ENSP00000307342:p.*891Leuext*35			Missense_Mutation	INS	ENST00000303230.4	37	CCDS3952.1																																																																																				0.431	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262026	-	A	45262025	7	5	48	1	0	1	1	0	0	0	0	0	6996	230	8	0	5	0	HCN1	5	45262025	Stop_Codon_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	1	45262025	135653235	56	4725	115	3									
HCN1	348980	hgsc.bcm.edu;bcgsc.ca	37	chr5	45262026	45262026	+	Missense_Mutation	SNP	T	T	A																															ttgacaatcagcagggatcaTaaatttgaagcaaatcgtgg																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262026T>A	ENST00000303230.4	-	8	2727	c.2670A>T	c.(2668-2670)ttA>ttT	p.L890F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	890					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						GCAGGGATCATAAATTTGAAG	0.433																																						.											0													86	101	96					5																	45262026		2202	4300	6502	SO:0001583	missense	348980			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.2670A>T	5.37:g.45262026T>A	ENSP00000307342:p.Leu890Phe			Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093047	0.56075	.	.	ENSG00000164588	ENST00000303230	D	0.98550	-4.99	5.01	5.01	0.66863	.	0.000000	0.49305	D	0.000146	D	0.97439	0.9162	L	0.29908	0.895	0.41621	D	0.988966	D	0.64830	0.994	P	0.58077	0.832	D	0.98805	1.0741	10	0.87932	D	0	.	15.0368	0.71754	0.0:0.0:0.0:1.0	.	890	O60741	HCN1_HUMAN	F	890	ENSP00000307342:L890F	ENSP00000307342:L890F	L	-	3	2	HCN1	45297783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.629000	0.54266	2.013000	0.59113	0.529000	0.55759	TTA		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45262026	T	A	45262026	3	1	48	1	0	0	0	0	1	0	0	0	6996	1403	49	5	6	5	HCN1	5	45262026	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1	45262026	135653234	57	4726	115	3									
BDP1	55814	mdanderson.org	37	chr5	70800538	70800538	+	Missense_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	aaaatgattcttttcaaaatGtgcagccagatgagcccaag	15	10	8	8	0	2	3	1	2	1	1	2	3	2	3	2	0	3	1	2	0	5	3	rs3761967	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:70800538G>A	ENST00000358731.4	+	16	2595	c.2332G>A	c.(2332-2334)Gtg>Atg	p.V778M	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	778			V -> M (in dbSNP:rs3761967).		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)		TTTTCAAAATGTGCAGCCAGA	0.328													G|||	2167	0.432708	0.385	0.3444	5008	,	,		16468	0.379		0.4911	False		,,,				2504	0.5552					.											0								G	MET/VAL	1365,2307		257,851,728	93	85	87		2332	-3.4	0	5	dbSNP_107	87	3941,4237		979,1983,1127	yes	missense	BDP1	NM_018429.2	21	1236,2834,1855	AA,AG,GG		48.1903,37.1732,44.7764	benign	778/2625	70800538	5306,6544	1836	4089	5925	SO:0001583	missense	55814			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.2332G>A	5.37:g.70800538G>A	ENSP00000351575:p.Val778Met		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	911	0.41712454212454214	185	0.37601626016260165	126	0.34806629834254144	223	0.38986013986013984	377	0.4973614775725594	G	1.874	-0.459559	0.04508	0.371732	0.481903	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.13538	2.58	4.48	-3.44	0.04796	.	2.140630	0.01851	N	0.035904	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.999999999946489E-6	B;P;B	0.39022	0.426;0.655;0.065	B;B;B	0.36719	0.14;0.231;0.052	T	0.41945	-0.9480	9	0.40728	T	0.16	.	1.3101	0.02096	0.4538:0.1427:0.2419:0.1615	rs3761967;rs56560745;rs59612064;rs3761967	778;778;778	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	M	778;778;358;778	ENSP00000351575:V778M	ENSP00000351575:V778M	V	+	1	0	BDP1	70836294	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.015000	0.12634	-0.485000	0.06754	-0.802000	0.03209	GTG		0.328	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70800538	G	A	70800538	3	1	48	1	0	0	0	0	1	0	0	0	1395	1377	48	4	2394	4	BDP1	5	70800538	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	25538512	70800538	110114722	58	4727											
ZNF366	167465	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	71756876	71756876	+	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	cttaatgggttcctgcttgaCgggcttgcccccaaagtgtt	6	13	11	11	1	0	1	0	1	0	0	1	1	1	1	3	2	2	4	3	2	2	5	rs74552129	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:71756876C>T	ENST00000318442.5	-	2	938	c.448G>A	c.(448-450)Gtc>Atc	p.V150I		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	150					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCCTGCTTGACGGGCTTGCCC	0.637													C|||	66	0.0131789	0.0477	0.0043	5008	,	,		16704	0		0	False		,,,				2504	0					.											0								C	ILE/VAL	162,4244	109.9+/-148.2	5,152,2046	103	114	110		448	1.6	0.2	5	dbSNP_131	110	0,8600		0,0,4300	yes	missense	ZNF366	NM_152625.1	29	5,152,6346	TT,TC,CC		0.0,3.6768,1.2456	benign	150/745	71756876	162,12844	2203	4300	6503	SO:0001583	missense	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.448G>A	5.37:g.71756876C>T	ENSP00000313158:p.Val150Ile		Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	C	0.202	-1.043765	0.01997	0.036768	0.0	ENSG00000178175	ENST00000318442	T	0.32753	1.44	5.82	1.64	0.23874	.	0.389793	0.24703	N	0.036298	T	0.02888	0.0086	N	0.11201	0.11	0.23585	N	0.997353	B	0.10296	0.003	B	0.06405	0.002	T	0.21280	-1.0250	10	0.23302	T	0.38	-26.4553	7.2969	0.26397	0.0:0.4013:0.0:0.5987	.	150	Q8N895	ZN366_HUMAN	I	150	ENSP00000313158:V150I	ENSP00000313158:V150I	V	-	1	0	ZNF366	71792632	0.922000	0.31269	0.192000	0.23308	0.174000	0.22865	1.345000	0.33953	0.304000	0.22809	0.561000	0.74099	GTC		0.637	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71756876	C	T	71756876	3	4	48	1	0	0	0	0	1	0	0	0	17867	536	19	1	1802	1	ZNF366	5	71756876	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	956338	71756876	109158384	59	4728											
PCDHB10	56126	mdanderson.org	37	chr5	140572820	140572820	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctactgtacgcatcgttgTcttggacgtcaatgacaatg	9	13	9	10	3	3	1	1	1	2	0	4	2	3	2	0	1	2	3	0	1	4	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:140572820T>C	ENST00000239446.4	+	1	879	c.695T>C	c.(694-696)gTc>gCc	p.V232A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	232	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)			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)			CGCATCGTTGTCTTGGACGTC	0.552																																						.											0													75	78	77					5																	140572820		2203	4300	6503	SO:0001583	missense	56126			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.695T>C	5.37:g.140572820T>C	ENSP00000239446:p.Val232Ala		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229226	0.39399	.	.	ENSG00000120324	ENST00000239446	T	0.68181	-0.31	3.41	3.41	0.39046	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.87010	0.6071	H	0.98612	4.28	0.37600	D	0.920501	D	0.61697	0.99	D	0.65573	0.936	D	0.92125	0.5707	9	0.87932	D	0	.	12.0382	0.53438	0.0:0.0:0.0:1.0	.	232	Q9UN67	PCDBA_HUMAN	A	232	ENSP00000239446:V232A	ENSP00000239446:V232A	V	+	2	0	PCDHB10	140553004	1.000000	0.71417	0.004000	0.12327	0.178000	0.23041	6.028000	0.70889	1.572000	0.49736	0.454000	0.30748	GTC		0.552	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140572820	T	C	140572820	3	2	48	1	0	0	0	0	1	0	0	0	11535	1667	58	2	697	2	PCDHB10	5	140572820	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	68815944	140572820	40342440	60	4729											
ATXN1	6310	mdanderson.org	37	chr6	16327918	16327918	+	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	tgctgctgctgatgctgatgCtgctgctgctgctgctgctg	2	14	14	11	0	0	2	0	2	0	0	0	2	0	2	0	0	11	11	0	0	0	0	rs28555263	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:16327918C>A	ENST00000244769.4	-	8	1560	c.624G>T	c.(622-624)caG>caT	p.Q208H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q208H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	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)				gatgctgatgctgctgctgct	0.662													C|||	649	0.129593	0.1437	0.1153	5008	,	,		12912	0.2044		0.0318	False		,,,				2504	0.1442					.											0													5	8	7					6																	16327918		1579	3505	5084	SO:0001583	missense	6310			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.624G>T	6.37:g.16327918C>A	ENSP00000244769:p.Gln208His		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	5.901	0.350402	0.11182	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56103	0.48;0.48	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.18493	-1.0335	8	0.13108	T	0.6	.	.	.	.	rs28555263	208	P54253	ATX1_HUMAN	H	208	ENSP00000244769:Q208H;ENSP00000416360:Q208H	ENSP00000244769:Q208H	Q	-	3	2	ATXN1	16435897	0.129000	0.22400	0.018000	0.16275	0.062000	0.15995	1.183000	0.32041	0.132000	0.18615	0.134000	0.15878	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327918	C	A	16327918	3	1	48	1	0	0	0	0	1	0	0	0	1209	796	28	5	1831	5	ATXN1	6	16327918	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10		16327918	154787149	61	4730											
KIAA0319	9856	mdanderson.org	37	chr6	24588884	24588884	+	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	ggtggactcagagggggctgCgctagtgggaggtgttggga	6	8	22	5	1	1	1	1	0	0	1	1	4	1	4	0	7	1	3	0	7	1	2	rs4504469	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:24588884C>T	ENST00000378214.3	-	4	1455	c.931G>A	c.(931-933)Gca>Aca	p.A311T	KIAA0319_ENST00000543707.1_Missense_Mutation_p.A311T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A311T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A302T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A266T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	311			A -> T (may be associated with susceptibility to dyslexia; dbSNP:rs4504469). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15717286}.		negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAGGGGGCTGCGCTAGTGGGA	0.537													C|||	1031	0.205871	0.0371	0.2248	5008	,	,		16182	0.1121		0.4225	False		,,,				2504	0.2945					.											0			GRCh37	CM057333	KIAA0319	M	rs4504469	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	423,3983	205.5+/-227.4	18,387,1798	153	134	140	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	904,931,796,931,931	-4.6	0	6	dbSNP_111	140	3471,5129	509.3+/-377.2	721,2029,1550	yes	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	58,58,58,58,58	739,2416,3348	TT,TC,CC		40.3605,9.6005,29.94	benign,benign,benign,benign,benign	302/1064,311/1073,266/1028,311/1012,311/1073	24588884	3894,9112	2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.931G>A	6.37:g.24588884C>T	ENSP00000367459:p.Ala311Thr		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	508	0.2326007326007326	20	0.04065040650406504	80	0.22099447513812154	71	0.12412587412587413	337	0.4445910290237467	C	3.297	-0.143640	0.06627	0.096005	0.403605	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06608	3.28;3.28;3.29;3.29;3.29	4.15	-4.6	0.03390	Fibronectin, type III (1);	0.966085	0.08434	N	0.946419	T	0.00440	0.0014	N	0.00500	-1.43	0.80722	P	0.0	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.47394	-0.9121	9	0.13470	T	0.59	0.5859	7.8238	0.29303	0.0:0.5077:0.1377:0.3546	rs4504469;rs52835077;rs4504469	311;302;311	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	311;302;266;311;311	ENSP00000439700:A311T;ENSP00000442403:A302T;ENSP00000401086:A266T;ENSP00000367459:A311T;ENSP00000437656:A311T	ENSP00000367459:A311T	A	-	1	0	KIAA0319	24696863	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.525000	0.02231	-1.160000	0.02804	-0.483000	0.04790	GCA		0.537	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		T	24588884	C	T	24588884	3	4	48	1	0	0	0	0	1	0	0	0	8168	768	27	1	2359	1	KIAA0319	6	24588884	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	8260966	24588884	146526183	62	4731											
SLC17A4	10050	mdanderson.org	37	chr6	25776845	25776845	+	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	tgggatcctgtctgccttgcCgtttgttgttggatgtatct	3	18	12	8	1	2	0	0	0	2	0	3	2	3	2	3	2	2	4	3	2	1	5	rs368361659		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:25776845C>T	ENST00000377905.4	+	9	1129	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	SLC17A4_ENST00000439485.2_Missense_Mutation_p.P107L|SLC17A4_ENST00000397076.2_Missense_Mutation_p.P107L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	337					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)	p.P337R(1)|p.P337Q(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTGCCTTGCCGTTTGTTGTT	0.507																																						.											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)						C	LEU/PRO	0,4406		0,0,2203	281	264	270		1010	3.8	0.6	6		270	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC17A4	NM_005495.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	337/498	25776845	1,13005	2203	4300	6503	SO:0001583	missense	10050			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.1010C>T	6.37:g.25776845C>T	ENSP00000367137:p.Pro337Leu		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912191	0.72983	0.0	1.16E-4	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.57907	0.41;0.44;0.37	5.63	3.75	0.43078	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.405156	0.21226	N	0.078063	T	0.64103	0.2568	M	0.89658	3.05	0.54753	D	0.999988	P;D;D	0.71674	0.895;0.998;0.973	B;P;D	0.63113	0.299;0.867;0.911	T	0.69243	-0.5196	10	0.66056	D	0.02	.	8.5883	0.33670	0.0:0.8318:0.0:0.1682	.	107;107;337	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	L	337;107;107	ENSP00000367137:P337L;ENSP00000391345:P107L;ENSP00000380266:P107L	ENSP00000367137:P337L	P	+	2	0	SLC17A4	25884824	0.985000	0.35326	0.579000	0.28588	0.949000	0.60115	2.671000	0.46842	0.761000	0.33130	0.655000	0.94253	CCG		0.507	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			T	25776845	C	T	25776845	3	4	48	1	0	0	0	0	1	0	0	0	14419	652	23	1	1040	1	SLC17A4	6	25776845	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1187961	25776845	145338222	63	4732											
ZNF323	64288	mdanderson.org;bcgsc.ca	37	chr6	28294148	28294148	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtatcctctgatgctgaAcaaggcatgagctgaggagg	10	10	14	7	0	1	4	0	4	1	0	2	5	2	5	1	3	3	4	1	3	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:28294148A>G	ENST00000414429.1	-	8	1919	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.V339A|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.V339A|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.V339A|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.V180A			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	339					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)										CTGATGCTGAACAAGGCATGA	0.507																																						.											0													204	187	193					6																	28294148		2203	4300	6503	SO:0001583	missense	64288				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1016T>C	6.37:g.28294148A>G	ENSP00000390076:p.Val339Ala		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888102	0.33348	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857	T;T;T;T;T;T	0.07021	3.27;3.27;3.27;3.27;3.27;3.23	5.06	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.13299	0.325	0.09310	N	1	B	0.13594	0.008	B	0.28849	0.095	T	0.48317	-0.9046	9	0.40728	T	0.16	.	4.9539	0.14029	0.6774:0.1578:0.1649:0.0	.	339	Q96LW9	ZN323_HUMAN	A	339;339;339;180;339;180	ENSP00000380050:V339A;ENSP00000413705:V339A;ENSP00000390076:V339A;ENSP00000402937:V180A;ENSP00000345339:V339A;ENSP00000391235:V180A	ENSP00000345339:V339A	V	-	2	0	ZNF323	28402127	0.000000	0.05858	0.088000	0.20740	0.868000	0.49771	-0.372000	0.07504	0.314000	0.23086	0.528000	0.53228	GTT		0.507	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		G	28294148	A	G	28294148	3	3	48	1	0	0	0	0	1	0	0	0	17840	43	2	2	208	2	ZNF323	6	28294148	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2517303	28294148	142820919	64	4733											
HLA-C	3107	mdanderson.org	37	chr6	31238942	31238942	+	Missense_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	aggctctcagctgctccgccGcacgggccgcctccaacttg	5	7	11	18	4	1	0	1	0	1	0	4	0	3	0	5	2	3	4	5	2	1	1	rs2308590	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31238942G>A	ENST00000376228.5	-	3	541	c.527C>T	c.(526-528)gCg>gTg	p.A176V	HLA-C_ENST00000383329.3_Missense_Mutation_p.A176V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	176	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)			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						CTGCTCCGCCGCACGGGCCGC	0.677													g|||	1486	0.296725	0.3631	0.3098	5008	,	,		10558	0.244		0.2763	False		,,,				2504	0.273					.											0													35	23	27					6																	31238942		2189	4271	6460	SO:0001583	missense	3107			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.527C>T	6.37:g.31238942G>A	ENSP00000365402:p.Ala176Val		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	1225	0.5608974358974359	287	0.5833333333333334	201	0.5552486187845304	344	0.6013986013986014	393	0.5184696569920845	.	0.893	-0.724867	0.03158	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00009	9.46;9.46	2.81	-5.62	0.02481	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	75.637500	0.00166	N	0.000000	T	0.00012	0.0000	N	0.00044	-2.455	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.10450	0.005;0.003;0.005;0.003	T	0.50110	-0.8866	10	0.25106	T	0.35	.	2.3839	0.04361	0.2515:0.0841:0.3977:0.2666	rs2308590;rs9264656;rs17839940	176;176;176;176	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	V	176;176;176;213	ENSP00000365402:A176V;ENSP00000372819:A176V	ENSP00000365402:A176V	A	-	2	0	HLA-C	31346921	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-15.955000	0.00000	-4.565000	0.00042	-3.123000	0.00061	GCG		0.677	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31238942	G	A	31238942	3	1	48	1	0	0	0	0	1	0	0	0	7197	1087	38	1	597	1	HLA-C	6	31238942	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	2944794	31238942	139876125	65	4734			1	36		3	3	602	N	G_CG_C	1.098398e-05
HLA-C	3107	mdanderson.org	37	chr6	31239518	31239518	+	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	ggcgcccgcggctcccctctCggactcgcggcgtcgctgtc	1	7	14	19	8	1	0	0	0	1	0	6	1	2	1	3	4	0	2	3	4	0	0	rs1050420	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31239518C>T	ENST00000376228.5	-	2	215	c.201G>A	c.(199-201)ccG>ccA	p.P67P	HLA-C_ENST00000383329.3_Silent_p.P67P	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	67	Alpha-1.				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)			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						GCTCCCCTCTCGGACTCGCGG	0.701													t|||	2230	0.445288	0.5363	0.513	5008	,	,		12078	0.2808		0.4314	False		,,,				2504	0.4581					.											0								T		1449,1571		354,741,415	38	40	39		201	-0.2	0	6	dbSNP_86	39	2233,3179		465,1303,938	no	coding-synonymous	HLA-C	NM_002117.5		819,2044,1353	TT,TC,CC		41.2602,47.9801,43.667		67/367	31239518	3682,4750	1510	2706	4216	SO:0001819	synonymous_variant	3107			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.201G>A	6.37:g.31239518C>T			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	910	0.4166666666666667	245	0.49796747967479676	195	0.5386740331491713	155	0.270979020979021	315	0.4155672823218997	-	6.921	0.539543	0.13250	0.479801	0.412602	ENSG00000204525	ENST00000415537	.	.	.	2.81	-0.177	0.13307	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.51233	P	8.699999999994823E-5	.	.	.	.	.	.	T	0.24476	-1.0159	3	.	.	.	.	3.289	0.06942	0.0:0.5067:0.2214:0.2719	rs1050420;rs2308551;rs3173347;rs16868214;rs17849592	.	.	.	K	67	.	.	E	-	1	0	HLA-C	31347497	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.011000	0.12721	-0.051000	0.13334	-0.679000	0.03777	GAG		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239518	C	T	31239518	2	4	48	1	0	0	0	0	0	0	0	1	7197	871	31	1		1	HLA-C	6	31239518	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	576	31239518	139875549	66	4735			1	36		3	3	602	N	G_CG_C	1.098398e-05
HLA-C	3107	mdanderson.org	37	chr6	31239543	31239544	+	Missense_Mutation	DNP	CG	CG	TT																															tcgcggcgtcgctgtcgaacCgcacgaactgcgtgtcgtcc																								rs1050428|rs281860356	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31239543_31239544CG>TT	ENST00000376228.5	-	2	189_190	c.175_176CG>AA	c.(175-177)CGg>AAg	p.R59K	HLA-C_ENST00000383329.3_Missense_Mutation_p.R59K	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	59	Alpha-1.				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)			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						GCTGTCGAACCGCACGAACTGC	0.678																																						.											0																																										SO:0001583	missense	3107			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.175_176delinsTT	6.37:g.31239543_31239544delinsTT	ENSP00000365402:p.Arg59Lys		O02864|O02958|Q29643|Q9MY30	Silent	DNP	ENST00000376228.5	37	CCDS34393.1																																																																																				0.678	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		TT	31239544	CG	TT	31239543	3	4	48	1	0	0	0	0	1	0	0	0	7197	652	23	1	952	1	HLA-C	6	31239543	Missense_Mutation	DNP	CG	TCGA-KN-8433-01A-11D-2310-10	25	31239543	139875524	67	4736			1	36		3	3	602	N	G_CG_C	1.098398e-05
RUNX2	860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	45405707	45405707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtttcaccttgaccataAccgtcttcacaaatcctccc	11	11	4	15	1	3	2	2	1	1	1	5	2	5	2	5	0	1	1	5	0	2	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:45405707A>G	ENST00000371438.1	+	4	962	c.604A>G	c.(604-606)Acc>Gcc	p.T202A	RUNX2_ENST00000371436.6_Missense_Mutation_p.T202A|RUNX2_ENST00000352853.5_Missense_Mutation_p.T270A|RUNX2_ENST00000371432.3_Missense_Mutation_p.T188A|RUNX2_ENST00000541979.1_Missense_Mutation_p.T270A|RUNX2_ENST00000359524.5_Missense_Mutation_p.T188A|RUNX2_ENST00000465038.2_Missense_Mutation_p.T202A|RUNX2_ENST00000576263.1_Missense_Mutation_p.T202A	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	202	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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						CTTGACCATAACCGTCTTCAC	0.398																																						.											0			GRCh37	CD053603	RUNX2	D							182	187	185					6																	45405707		2203	4300	6503	SO:0001583	missense	860			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.604A>G	6.37:g.45405707A>G	ENSP00000360493:p.Thr202Ala		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022536	0.75275	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99436	-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9	5.4	5.4	0.78164	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.87758	2.905	0.80722	D	1	D;D;P	0.64830	0.992;0.994;0.693	D;D;P	0.85130	0.993;0.997;0.662	D	0.98173	1.0453	10	0.87932	D	0	-7.2818	15.7246	0.77743	1.0:0.0:0.0:0.0	.	270;202;188	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	A	202;270;270;202;202;188;188	ENSP00000420707:T202A;ENSP00000319087:T270A;ENSP00000446290:T270A;ENSP00000360493:T202A;ENSP00000360491:T202A;ENSP00000352514:T188A;ENSP00000360486:T188A	ENSP00000319087:T270A	T	+	1	0	RUNX2	45513685	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.283000	0.95860	2.161000	0.67846	0.482000	0.46254	ACC		0.398	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		G	45405707	A	G	45405707	3	3	48	1	0	0	0	0	1	0	0	0	13748	43	2	2	634	2	RUNX2	6	45405707	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	14166164	45405707	125709360	68	4737											
ENPP5	59084	mdanderson.org	37	chr6	46133228	46133228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatgccacctttctggaAcgtcttcttttttgtaaaca	9	17	6	9	1	3	0	0	0	3	0	3	1	3	1	2	1	3	2	2	1	4	7			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:46133228A>G	ENST00000371383.2	-	4	1162	c.902T>C	c.(901-903)gTt>gCt	p.V301A	ENPP5_ENST00000230565.3_Missense_Mutation_p.V301A|ENPP5_ENST00000492313.1_5'UTR					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CCTTTCTGGAACGTCTTCTTT	0.398																																						.											0													234	199	211					6																	46133228		2203	4300	6503	SO:0001583	missense	59084			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.902T>C	6.37:g.46133228A>G	ENSP00000360436:p.Val301Ala			Missense_Mutation	SNP	ENST00000371383.2	37	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790630	0.50102	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.72615	-0.67;-0.67	5.64	5.64	0.86602	Alkaline-phosphatase-like, core domain (1);	0.166514	0.51477	D	0.000088	T	0.57651	0.2068	M	0.73430	2.235	0.23391	N	0.99777	B;B	0.29955	0.263;0.123	B;B	0.29440	0.102;0.102	T	0.60094	-0.7330	10	0.87932	D	0	-9.7515	12.4049	0.55434	0.8743:0.0:0.0:0.1257	.	301;301	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	A	301	ENSP00000360436:V301A;ENSP00000230565:V301A	ENSP00000230565:V301A	V	-	2	0	ENPP5	46241187	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	8.334000	0.90028	2.272000	0.75746	0.460000	0.39030	GTT		0.398	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			G	46133228	A	G	46133228	3	3	48	1	0	0	0	0	1	0	0	0	5133	43	2	2	539	2	ENPP5	6	46133228	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	727521	46133228	124981839	69	4738											
RIMS1	22999	ucsc.edu;mdanderson.org	37	chr6	72974700	72974700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttgttaggcactataaaAcattacctcccaagatgcct	13	12	5	11	0	1	1	0	0	1	1	2	1	2	1	3	1	3	2	3	1	6	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:72974700A>G	ENST00000521978.1	+	20	3139	c.3139A>G	c.(3139-3141)Aca>Gca	p.T1047A	RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.T1047A|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1047					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)				GCACTATAAAACATTACCTCC	0.363																																						.											0													55	51	53					6																	72974700		1846	4089	5935	SO:0001583	missense	22999			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.3139A>G	6.37:g.72974700A>G	ENSP00000428417:p.Thr1047Ala		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	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665269	0.47677	.	.	ENSG00000079841	ENST00000350827;ENST00000264839;ENST00000521978	T;T	0.13901	2.6;2.55	5.76	5.76	0.90799	.	0.140657	0.31507	N	0.007539	T	0.02418	0.0074	N	0.08118	0	0.80722	D	1	B	0.26902	0.163	B	0.23852	0.049	T	0.21211	-1.0252	10	0.06236	T	0.91	-7.5353	16.0796	0.80995	1.0:0.0:0.0:0.0	.	1047	Q86UR5	RIMS1_HUMAN	A	1047	ENSP00000264839:T1047A;ENSP00000428417:T1047A	ENSP00000264839:T1047A	T	+	1	0	RIMS1	73031421	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.575000	0.60908	2.199000	0.70637	0.477000	0.44152	ACA		0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	72974700	A	G	72974700	3	3	48	1	0	0	0	0	1	0	0	0	13367	43	2	2	3380	2	RIMS1	6	72974700	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	26841472	72974700	98140367	70	4739											
HSF2	3298	mdanderson.org	37	chr6	122743949	122743949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtggagagcagaatgAaccagccagagaatccctaa	16	5	11	9	0	1	5	1	1	0	4	2	7	2	5	3	1	3	1	3	1	4	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:122743949A>G	ENST00000368455.4	+	9	1109	c.917A>G	c.(916-918)gAa>gGa	p.E306G	HSF2_ENST00000452194.1_Missense_Mutation_p.E306G	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	306					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)		GAGCAGAATGAACCAGCCAGA	0.468																																						.											0													108	94	99					6																	122743949		2203	4300	6503	SO:0001583	missense	3298			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.917A>G	6.37:g.122743949A>G	ENSP00000357440:p.Glu306Gly		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002753	0.35320	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	4.98	3.82	0.43975	Vertebrate heat shock transcription factor (1);	0.563006	0.18859	N	0.129191	T	0.33000	0.0848	L	0.47716	1.5	0.38855	D	0.956352	B;B	0.27068	0.167;0.109	B;B	0.30943	0.085;0.122	T	0.15521	-1.0434	9	0.33940	T	0.23	-6.8951	9.5176	0.39115	0.9198:0.0:0.0802:0.0	.	306;306	Q03933-2;Q03933	.;HSF2_HUMAN	G	306	.	ENSP00000357440:E306G	E	+	2	0	HSF2	122785648	0.998000	0.40836	0.967000	0.41034	0.855000	0.48748	2.539000	0.45718	1.031000	0.39867	0.533000	0.62120	GAA		0.468	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		G	122743949	A	G	122743949	3	3	48	1	0	0	0	0	1	0	0	0	7396	246	9	4	951	4	HSF2	6	122743949	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	49769249	122743949	48371118	71	4740											
LPA	4018	mdanderson.org	37	chr6	160952770	160952770	+	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	ctcccgtccaattaattattTctcatcattccctcaatcca	10	15	1	15	1	3	0	3	0	1	0	8	0	7	0	4	0	0	0	4	0	4	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:160952770T>C	ENST00000316300.5	-	39	6158	c.6114A>G	c.(6112-6114)agA>agG	p.R2038R	LPA_ENST00000447678.1_Silent_p.R2038R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4546	Kringle 18. {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)	ATTAATTATTTCTCATCATTC	0.438																																						.											0													144	132	136					6																	160952770		2203	4300	6503	SO:0001819	synonymous_variant	4018			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.6114A>G	6.37:g.160952770T>C			Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.438	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		C	160952770	T	C	160952770	2	2	48	1	0	0	0	0	0	0	0	1	8903	1780	62	4		4	LPA	6	160952770	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	38208821	160952770	10162297	72	4741											
UNC93A	54346	mdanderson.org	37	chr6	167728774	167728774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgccttcgggtacagcaTgtttttgtgcgtgcacgtca	6	14	11	10	3	1	0	1	0	0	0	2	0	1	0	1	1	5	4	1	1	1	5	rs663606|rs71545154	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:167728774T>C	ENST00000230256.3	+	8	1383	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	UNC93A_ENST00000366829.2_Missense_Mutation_p.M361T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	403			M -> I (in dbSNP:rs9459921).|M -> T (in dbSNP:rs663606). {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGTACAGCATGTTTTTGTGC	0.577													C|||	3911	0.78095	0.9599	0.5865	5008	,	,		16443	0.8085		0.6252	False		,,,				2504	0.8088					.											0													85	139	121					6																	167728774		2203	4293	6496	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1208T>C	6.37:g.167728774T>C	ENSP00000230256:p.Met403Thr		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	1388	0.6355311355311355	393	0.7987804878048781	189	0.5220994475138122	411	0.7185314685314685	395	0.521108179419525	C	0	-2.720806	0.00092	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.79940	-1.32;-1.32	3.86	2.97	0.34412	Major facilitator superfamily domain, general substrate transporter (1);	0.177325	0.48286	N	0.000189	T	0.13756	0.0333	N	0.00026	-2.67	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12167	-1.0558	9	0.08837	T	0.75	-2.8542	9.2044	0.37280	0.0:0.814:0.0:0.186	rs663606;rs7759897;rs58365775	361;403	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	403;361	ENSP00000230256:M403T;ENSP00000355794:M361T	ENSP00000230256:M403T	M	+	2	0	UNC93A	167648764	0.266000	0.24112	0.055000	0.19348	0.010000	0.07245	0.526000	0.22971	0.255000	0.21593	-0.355000	0.07637	ATG		0.577	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		C	167728774	T	C	167728774	3	2	48	1	0	0	0	0	1	0	0	0	16993	1464	51	4	1238	4	UNC93A	6	167728774	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	6776004	167728774	3386293	73	4742											
MICALL2	79778	mdanderson.org	37	chr7	1498910	1498910	+	Missense_Mutation	SNP	T	T	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	tgcagatattcacgtcgcggTagccctcgcactgctgccgg	6	9	12	14	5	1	1	1	0	0	1	3	1	1	1	2	2	4	4	2	2	2	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:1498910T>C	ENST00000297508.7	-	1	228	c.53A>G	c.(52-54)tAc>tGc	p.Y18C	AC102953.4_ENST00000445345.1_RNA|MICALL2_ENST00000405088.4_Missense_Mutation_p.Y18C	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	18	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CACGTCGCGGTAGCCCTCGCA	0.692																																						.											0													62	54	57					7																	1498910		2198	4300	6498	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.53A>G	7.37:g.1498910T>C	ENSP00000297508:p.Tyr18Cys		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712639	0.89112	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;D	0.95377	0.47;-3.69	3.76	3.76	0.43208	Calponin homology domain (5);	.	.	.	.	D	0.98651	0.9548	H	0.99357	4.53	0.36009	D	0.837893	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1482	9	0.87932	D	0	.	12.1034	0.53798	0.0:0.0:0.0:1.0	.	18	Q8IY33	MILK2_HUMAN	C	18	ENSP00000385928:Y18C;ENSP00000297508:Y18C	ENSP00000297508:Y18C	Y	-	2	0	MICALL2	1465436	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.802000	0.69122	1.339000	0.45563	0.260000	0.18958	TAC		0.692	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		C	1498910	T	C	1498910	3	2	48	1	0	0	0	0	1	0	0	0	9574	1638	57	2	2729	2	MICALL2	7	1498910	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		1498910	157639753	74	4743											
STK31	56164	mdanderson.org	37	chr7	23792342	23792342	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttgtttcagcaagagAaggcagctgctgtggatttg	9	14	12	6	0	2	1	1	0	1	1	2	3	2	2	0	2	3	5	0	2	2	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:23792342A>G	ENST00000355870.3	+	9	1143	c.1024A>G	c.(1024-1026)Aag>Gag	p.K342E	STK31_ENST00000428484.1_Missense_Mutation_p.K319E|STK31_ENST00000354639.3_Missense_Mutation_p.K319E|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.K342E	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	342						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						TCAGCAAGAGAAGGCAGCTGC	0.378																																						.											0													90	87	88					7																	23792342		2203	4300	6503	SO:0001583	missense	56164			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.1024A>G	7.37:g.23792342A>G	ENSP00000348132:p.Lys342Glu		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392194	0.62066	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.94	4.94	0.65067	.	0.119862	0.56097	D	0.000027	T	0.42653	0.1212	M	0.66939	2.045	0.39708	D	0.971297	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.43972	-0.9358	10	0.87932	D	0	-18.8545	11.259	0.49071	1.0:0.0:0.0:0.0	.	342;342	B4DZ06;Q9BXU1	.;STK31_HUMAN	E	342;342;319;319	ENSP00000348132:K342E;ENSP00000411852:K342E;ENSP00000346660:K319E;ENSP00000406146:K319E	ENSP00000346660:K319E	K	+	1	0	STK31	23758867	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.759000	0.62227	1.983000	0.57843	0.482000	0.46254	AAG		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23792342	A	G	23792342	3	3	48	1	0	0	0	0	1	0	0	0	15295	247	9	4	1058	4	STK31	7	23792342	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	22293432	23792342	135346321	75	4744											
ABCA13	154664	mdanderson.org	37	chr7	48314279	48314279	+	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	gtcatgcgtacccttaagaaGgcagacatagaccttttagt	12	11	9	9	1	1	3	1	0	0	3	1	3	1	3	2	1	2	2	2	1	5	5	rs6955212	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:48314279G>A	ENST00000435803.1	+	17	5040	c.5016G>A	c.(5014-5016)aaG>aaA	p.K1672K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1672					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						CCCTTAAGAAGGCAGACATAG	0.393													G|||	968	0.193291	0.1498	0.2709	5008	,	,		22975	0.2153		0.1322	False		,,,				2504	0.2372					.											0								G		585,3223		48,489,1367	153	145	148		5016	2.3	0.3	7	dbSNP_116	148	1164,7050		92,980,3035	no	coding-synonymous	ABCA13	NM_152701.3		140,1469,4402	AA,AG,GG		14.1709,15.3624,14.5483		1672/5059	48314279	1749,10273	1904	4107	6011	SO:0001819	synonymous_variant	154664			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.5016G>A	7.37:g.48314279G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48314279	G	A	48314279	2	1	48	1	0	0	0	0	0	0	0	1	31	991	35	4		4	ABCA13	7	48314279	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	24521937	48314279	110824384	76	4745											
BAZ1B	9031	mdanderson.org	37	chr7	72891458	72891458	+	Missense_Mutation	SNP	T	T	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	tcaacacagcaagccgttccTtccacaactctgcagacatc	12	8	5	16	1	2	1	1	0	1	1	5	1	4	1	3	0	5	3	3	0	3	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:72891458T>C	ENST00000339594.4	-	7	2671	c.2333A>G	c.(2332-2334)aAg>aGg	p.K778R	BAZ1B_ENST00000404251.1_Missense_Mutation_p.K778R	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	778					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)				AAGCCGTTCCTTCCACAACTC	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	.											0													80	72	75					7																	72891458		2203	4300	6503	SO:0001583	missense	9031			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.2333A>G	7.37:g.72891458T>C	ENSP00000342434:p.Lys778Arg		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885335	0.72410	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.64085	-0.08;-0.08	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	L	0.52759	1.655	0.53688	D	0.999978	D	0.69078	0.997	D	0.75020	0.985	T	0.70490	-0.4857	10	0.30854	T	0.27	-32.4356	15.3014	0.73955	0.0:0.0:0.0:1.0	.	778	Q9UIG0	BAZ1B_HUMAN	R	778	ENSP00000342434:K778R;ENSP00000385442:K778R	ENSP00000342434:K778R	K	-	2	0	BAZ1B	72529394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.866000	0.69590	2.219000	0.72066	0.459000	0.35465	AAG		0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		C	72891458	T	C	72891458	3	2	48	1	0	0	0	0	1	0	0	0	1330	1609	56	2	2170	2	BAZ1B	7	72891458	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	24577179	72891458	86247205	77	4746											
BAZ1B	9031	mdanderson.org	37	chr7	72892254	72892254	+	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	tcgcaattcttctgggagacGagctctatcttcactagaga	10	12	9	10	2	5	2	1	0	4	2	6	5	5	2	0	1	1	2	0	1	3	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:72892254G>A	ENST00000339594.4	-	7	1875	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R513C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	513	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)				TCTGGGAGACGAGCTCTATCT	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	.											0													101	104	103					7																	72892254		2203	4300	6503	SO:0001583	missense	9031			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.1537C>T	7.37:g.72892254G>A	ENSP00000342434:p.Arg513Cys		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589356	0.66105	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58358	0.34;0.34	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63849	-0.6544	10	0.66056	D	0.02	-16.7136	13.388	0.60807	0.0:0.0:0.8428:0.1572	.	513	Q9UIG0	BAZ1B_HUMAN	C	513	ENSP00000342434:R513C;ENSP00000385442:R513C	ENSP00000342434:R513C	R	-	1	0	BAZ1B	72530190	1.000000	0.71417	0.955000	0.39395	0.999000	0.98932	5.906000	0.69900	2.593000	0.87608	0.655000	0.94253	CGT		0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		A	72892254	G	A	72892254	3	1	48	1	0	0	0	0	1	0	0	0	1330	1058	37	1	2966	1	BAZ1B	7	72892254	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	796	72892254	86246409	78	4747											
CLDN3	1365	broad.mit.edu;mdanderson.org	37	chr7	73184305	73184305	+	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	gacacgcgccacatgggcaaCgcgcagcacacgatggtgcc	10	3	13	15	5	0	0	0	0	0	0	0	2	0	0	2	2	3	3	2	2	1	0			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:73184305C>T	ENST00000395145.2	-	1	295	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	25					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				ACATGGGCAACGCGCAGCACA	0.672																																						.											0													45	38	40					7																	73184305		2203	4299	6502	SO:0001819	synonymous_variant	1365			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"Claudins"	2045	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 2", "ventral prostate.1-like protein", "claudin-3", "CPE-receptor 2"	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.75G>A	7.37:g.73184305C>T				Silent	SNP	ENST00000395145.2	37	CCDS5559.1																																																																																				0.672	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		T	73184305	C	T	73184305	2	4	48	1	0	0	0	0	0	0	0	1	3486	523	19	1		1	CLDN3	7	73184305	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	292051	73184305	85954358	79	4748											
C7orf63	79846	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	89937126	89937126	+	Missense_Mutation	SNP	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	gagctggctaataaatcatgGgaagatttcttggctagaac	13	11	11	6	0	2	2	1	0	1	2	2	4	2	3	0	3	2	3	0	3	6	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:89937126G>T	ENST00000389297.4	+	21	2759	c.2508G>T	c.(2506-2508)tgG>tgT	p.W836C	C7orf63_ENST00000316089.8_Missense_Mutation_p.W790C|C7orf63_ENST00000497910.1_Missense_Mutation_p.W818C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		836										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATAAATCATGGGAAGATTTCT	0.328																																						.											0													65	64	65					7																	89937126		1840	4099	5939	SO:0001583	missense	79846																														ENST00000389297.4:c.2508G>T	7.37:g.89937126G>T	ENSP00000373948:p.Trp836Cys		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.29|18.29	3.590328|3.590328	0.66105|0.66105	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000412839;ENST00000445156|ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	.|T;T;T;T	.|0.25912	.|2.37;2.32;2.37;1.77	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.54255	.|0.1847	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.989;0.999	.|T	.|0.59643	.|-0.7416	.|10	.|0.87932	.|D	.|0	-4.9045|-4.9045	17.6621|17.6621	0.88195|0.88195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818;836	.|A5D8W1-5;A5D8W1	.|.;CG063_HUMAN	X|C	65;23|836;790;818;373	.|ENSP00000373948:W836C;ENSP00000321753:W790C;ENSP00000419549:W818C;ENSP00000391571:W373C	.|ENSP00000321753:W790C	G|W	+|+	1|3	0|0	C7orf63|C7orf63	89775062|89775062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.025000|7.025000	0.76449|0.76449	2.407000|2.407000	0.81776|0.81776	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.328	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			T	89937126	G	T	89937126	3	4	48	1	0	0	0	0	1	0	0	0	2409	1241	43	5	2590	5	C7orf63	7	89937126	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	16752821	89937126	69201537	80	4749											
CCDC132	55610	mdanderson.org	37	chr7	92905518	92905518	+	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	atgcacttcacccaagccatTcacaacaccgtgtttcaagt	12	10	5	14	1	3	0	3	0	0	0	3	0	3	0	3	0	3	2	3	0	3	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:92905518T>C	ENST00000305866.5	+	12	971	c.843T>C	c.(841-843)atT>atC	p.I281I	CCDC132_ENST00000544910.1_Silent_p.I251I|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Silent_p.I92I|CCDC132_ENST00000317751.6_Silent_p.I12I|CCDC132_ENST00000251739.5_Silent_p.I281I	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	281						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCAAGCCATTCACAACACCG	0.353																																						.											0													210	186	194					7																	92905518		2203	4300	6503	SO:0001819	synonymous_variant	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.843T>C	7.37:g.92905518T>C			B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418400	0.25552	.	.	ENSG00000004766	ENST00000458707	.	.	.	5.3	1.2	0.21068	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	-23.125	8.3177	0.32111	0.0:0.4108:0.0:0.5892	.	.	.	.	S	68	.	.	F	+	2	0	CCDC132	92743454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.819000	0.39022	0.398000	0.25338	-0.297000	0.09499	TTC		0.353	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		C	92905518	T	C	92905518	2	2	48	1	0	0	0	0	0	0	0	1	2767	1771	62	4		4	CCDC132	7	92905518	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2968392	92905518	66233145	81	4750											
SLC25A13	10165	mdanderson.org	37	chr7	95813628	95813628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatagcgtagcacttTcttaaaacagtcaaagctgt	12	12	7	10	1	3	0	2	0	1	0	3	0	3	0	1	0	4	3	1	0	5	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:95813628T>C	ENST00000265631.5	-	11	1274	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	SLC25A13_ENST00000416240.2_Missense_Mutation_p.K381E|SLC25A13_ENST00000542654.1_Missense_Mutation_p.K272E			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	380					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)	CGTAGCACTTTCTTAAAACAG	0.393																																						.											0													103	98	100					7																	95813628		2203	4300	6503	SO:0001583	missense	10165			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.1138A>G	7.37:g.95813628T>C	ENSP00000265631:p.Lys380Glu		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945440	0.92593	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79845	-1.31;-1.31;-1.31	4.86	4.86	0.63082	Mitochondrial carrier domain (2);	0.110120	0.64402	D	0.000016	D	0.86543	0.5958	L	0.49778	1.585	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.987;0.992;0.992	D	0.88017	0.2766	10	0.87932	D	0	-16.5103	14.9278	0.70893	0.0:0.0:0.0:1.0	.	272;381;380	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	E	380;381;272	ENSP00000265631:K380E;ENSP00000400101:K381E;ENSP00000440484:K272E	ENSP00000265631:K380E	K	-	1	0	SLC25A13	95651564	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.868000	0.87116	2.172000	0.68678	0.533000	0.62120	AAA		0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		C	95813628	T	C	95813628	3	2	48	1	0	0	0	0	1	0	0	0	14475	1792	62	4	921	4	SLC25A13	7	95813628	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2908110	95813628	63325035	82	4751											
STAG3	10734	mdanderson.org	37	chr7	99783860	99783860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatagctacaagcaagAccaggatgcaggatttctgg	12	8	13	8	0	1	1	0	0	1	1	1	4	1	4	1	4	4	4	1	4	4	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:99783860A>G	ENST00000426455.1	+	5	781	c.374A>G	c.(373-375)gAc>gGc	p.D125G	STAG3_ENST00000317296.5_Missense_Mutation_p.D125G|STAG3_ENST00000394018.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	125					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACAAGCAAGACCAGGATGCA	0.408																																						.											0													197	197	197					7																	99783860		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.374A>G	7.37:g.99783860A>G	ENSP00000400359:p.Asp125Gly		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757822	0.69648	.	.	ENSG00000066923	ENST00000426455;ENST00000416412;ENST00000339784;ENST00000317296	T;T	0.29397	1.57;1.57	5.65	5.65	0.86999	.	0.242716	0.28766	N	0.014204	T	0.44435	0.1293	M	0.84219	2.685	0.42783	D	0.993871	B	0.26809	0.16	B	0.35114	0.196	T	0.48647	-0.9017	10	0.72032	D	0.01	-8.7402	13.8254	0.63348	1.0:0.0:0.0:0.0	.	125	Q9UJ98	STAG3_HUMAN	G	125	ENSP00000400359:D125G;ENSP00000319318:D125G	ENSP00000319318:D125G	D	+	2	0	STAG3	99621796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.284000	0.78650	2.149000	0.67028	0.454000	0.30748	GAC		0.408	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		G	99783860	A	G	99783860	3	3	48	1	0	0	0	0	1	0	0	0	15243	275	10	2	388	2	STAG3	7	99783860	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3970232	99783860	59354803	83	4752											
UBN2	254048	mdanderson.org	37	chr7	138960858	138960858	+	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	tccagaatgctttttaaggaAagccggagtgttcataatca	13	12	9	7	1	2	1	2	0	0	1	3	3	3	3	2	2	2	2	2	2	4	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:138960858A>G	ENST00000473989.3	+	12	1989	c.1989A>G	c.(1987-1989)gaA>gaG	p.E663E	UBN2_ENST00000288561.8_Silent_p.E580E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	663						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTTTTAAGGAAAGCCGGAGTG	0.279																																						.											0													84	78	80					7																	138960858		1810	4069	5879	SO:0001819	synonymous_variant	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1989A>G	7.37:g.138960858A>G			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	9.378	1.072307	0.20147	.	.	ENSG00000157741	ENST00000483726	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.62938	0.2469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62324	-0.6878	4	.	.	.	-19.1931	10.4303	0.44403	0.9274:0.0:0.0726:0.0	.	.	.	.	R	432	.	.	K	+	2	0	UBN2	138611398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.712000	0.37940	2.196000	0.70406	0.528000	0.53228	AAA		0.279	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		G	138960858	A	G	138960858	2	3	48	1	0	0	0	0	0	0	0	1	16890	11	1	4		4	UBN2	7	138960858	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	39176998	138960858	20177805	84	4753											
TAS2R4	50832	mdanderson.org	37	chr7	141478814	141478814	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcagtgagggcatcttgTctttagtggtttctttggtc	6	18	11	6	0	4	1	1	1	3	0	5	1	4	1	0	3	0	2	0	3	2	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:141478814T>C	ENST00000247881.2	+	1	573	c.526T>C	c.(526-528)Tct>Cct	p.S176P	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	176					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGGCATCTTGTCTTTAGTGGT	0.418																																						.											0													255	250	252					7																	141478814		2203	4300	6503	SO:0001583	missense	50832			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.526T>C	7.37:g.141478814T>C	ENSP00000247881:p.Ser176Pro		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	t	4.845	0.157147	0.09236	.	.	ENSG00000127364	ENST00000247881	T	0.37584	1.19	5.31	-2.53	0.06326	.	0.838765	0.10689	N	0.645469	T	0.31544	0.0800	M	0.64997	1.995	0.09310	N	1	B	0.18013	0.025	B	0.28139	0.086	T	0.45056	-0.9287	10	0.62326	D	0.03	.	4.0257	0.09687	0.2579:0.3855:0.0:0.3567	.	176	Q9NYW5	TA2R4_HUMAN	P	176	ENSP00000247881:S176P	ENSP00000247881:S176P	S	+	1	0	TAS2R4	141125283	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.350000	0.07721	-0.263000	0.09378	-0.282000	0.10007	TCT		0.418	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			C	141478814	T	C	141478814	3	2	48	1	0	0	0	0	1	0	0	0	15574	1667	58	2	528	2	TAS2R4	7	141478814	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2517956	141478814	17659849	85	4754											
PRSS1	5644	mdanderson.org	37	chr7	142458526	142458526	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtggtggctccctcatcaAcgaacagtgggtggtatcag	8	10	13	10	1	3	0	3	0	0	0	4	1	4	0	1	4	2	2	1	4	3	1	rs144422014		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:142458526A>G	ENST00000311737.7	+	2	167	c.161A>G	c.(160-162)aAc>aGc	p.N54S	PRSS1_ENST00000486171.1_Missense_Mutation_p.N54S	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	54	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		N -> S (in PCTT; associated with Ile-29; the double mutant shows increased autocatalytic activation which is solely due to the Ile-29 mutation). {ECO:0000269|PubMed:15776435}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCCCTCATCAACGAACAGTGG	0.572																																						.											0													88	91	90					7																	142458526		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.161A>G	7.37:g.142458526A>G	ENSP00000308720:p.Asn54Ser		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.848646	0.00563	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;T	0.91577	-2.87;-2.87;-1.25	3.49	-6.32	0.01995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.304664	0.39083	N	0.001478	T	0.62938	0.2469	N	0.00765	-1.205	0.09310	A	6.371e-07	B	0.02656	0.0	B	0.04013	0.001	T	0.62258	-0.6892	9	0.16896	T	0.51	.	6.9591	0.24587	0.4768:0.1255:0.3977:0.0	.	54	P07477	TRY1_HUMAN	S	54;54;54;4	ENSP00000417854:N54S;ENSP00000308720:N54S;ENSP00000419912:N4S	ENSP00000308720:N54S	N	+	2	0	PRSS1	142138100	0.000000	0.05858	0.248000	0.24265	0.005000	0.04900	-1.543000	0.02194	-1.143000	0.02866	-0.874000	0.02982	AAC		0.572	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			G	142458526	A	G	142458526	3	3	48	1	0	0	0	0	1	0	0	0	12614	43	2	2	167	2	PRSS1	7	142458526	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	979712	142458526	16680137	86	4755											
OR2A2	442361	mdanderson.org	37	chr7	143806681	143806681	+	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	ctctgccacaagagcatggaAggcaaccagacatggatcac	14	5	10	12	0	2	2	1	0	1	2	2	4	2	4	2	3	3	2	2	3	3	0			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:143806681A>G	ENST00000408979.2	+	1	75	c.6A>G	c.(4-6)gaA>gaG	p.E2E		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	2						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(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGCATGGAAGGCAACCAGA	0.502																																						.											0													103	100	101					7																	143806681		2004	4187	6191	SO:0001819	synonymous_variant	442361				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.6A>G	7.37:g.143806681A>G			B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	CCDS43671.1																																																																																				0.502	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			G	143806681	A	G	143806681	2	3	48	1	0	0	0	0	0	0	0	1	10977	69	3	2		2	OR2A2	7	143806681	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1348155	143806681	15331982	87	4756											
CNOT7	29883	mdanderson.org	37	chr8	17088229	17088229	+	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	aataaaaggactatttcatgTcatgactgcttgttggcttc	11	15	8	7	0	2	1	2	1	0	0	3	2	2	2	0	2	1	3	0	2	4	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:17088229T>C	ENST00000361272.4	-	7	1156	c.858A>G	c.(856-858)tgA>tgG	p.*286W		NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	0					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTATTTCATGTCATGACTGCT	0.398																																						.											0													109	102	104					8																	17088229		2203	4300	6503	SO:0001578	stop_lost	29883			L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"BTG1 binding factor 1"	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.858A>G	8.37:g.17088229T>C	ENSP00000355279:p.*286Cysext*57		A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670954	0.47781	.	.	ENSG00000198791	ENST00000361272	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4096	0.74908	0.0:0.0:0.0:1.0	.	.	.	.	W	286	.	.	X	-	3	0	CNOT7	17132600	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.694000	0.84235	2.180000	0.69256	0.533000	0.62120	TGA		0.398	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		C	17088229	T	C	17088229	4	2	48	1	0	0	0	0	0	0	0	0	3624	1680	58	2	3	2	CNOT7	8	17088229	Nonstop_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		17088229	129275793	88	4757											
ST18	9705	mdanderson.org	37	chr8	53025806	53025806	+	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	ttgatactttccagtagagcTttgcattccggggaatagtc	9	14	10	8	1	0	2	0	1	0	1	3	3	2	3	2	2	3	3	2	2	4	7			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:53025806T>C	ENST00000276480.7	-	26	3779	c.3096A>G	c.(3094-3096)aaA>aaG	p.K1032K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1032					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)				CCAGTAGAGCTTTGCATTCCG	0.453																																						.											0													173	150	158					8																	53025806		2203	4300	6503	SO:0001819	synonymous_variant	9705			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.3096A>G	8.37:g.53025806T>C			Q17RY1	Silent	SNP	ENST00000276480.7	37	CCDS6149.1																																																																																				0.453	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			C	53025806	T	C	53025806	2	2	48	1	0	0	0	0	0	0	0	1	15211	1606	56	2		2	ST18	8	53025806	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	35937577	53025806	93338216	89	4758											
WWP1	11059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	87410805	87410805	+	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	ctttcttgttgttcagtagaAatacaggaaaatggtgatgc	12	14	10	5	0	2	2	1	1	1	1	2	3	2	3	0	2	2	3	0	2	5	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:87410805A>C	ENST00000517970.1	+	7	784	c.477A>C	c.(475-477)gaA>gaC	p.E159D	WWP1_ENST00000265428.4_Missense_Mutation_p.E159D|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	159					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTTCAGTAGAAATACAGGAAA	0.333																																						.											0													96	97	97					8																	87410805		2203	4300	6503	SO:0001583	missense	11059			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.477A>C	8.37:g.87410805A>C	ENSP00000427793:p.Glu159Asp		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129792	0.37630	.	.	ENSG00000123124	ENST00000517970;ENST00000265428	T;T	0.45276	0.9;0.9	5.3	5.3	0.74995	.	0.714266	0.13795	N	0.362248	T	0.37598	0.1009	L	0.44542	1.39	0.80722	D	1	B	0.13594	0.008	B	0.17433	0.018	T	0.13335	-1.0513	10	0.17369	T	0.5	.	15.5221	0.75874	1.0:0.0:0.0:0.0	.	159	Q9H0M0	WWP1_HUMAN	D	159	ENSP00000427793:E159D;ENSP00000265428:E159D	ENSP00000265428:E159D	E	+	3	2	WWP1	87479921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.689000	0.74562	2.127000	0.65507	0.477000	0.44152	GAA		0.333	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		C	87410805	A	C	87410805	3	2	48	1	0	0	0	0	1	0	0	0	17412	11	1	5	495	5	WWP1	8	87410805	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	34384999	87410805	58953217	90	4759											
CYP11B1	1584	mdanderson.org	37	chr8	143958291	143958291	+	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	agccgctctccaaaaagagcCaagttgctggctgcggggag	10	6	14	11	2	1	1	0	0	1	1	2	2	1	2	3	3	4	4	3	3	3	1	rs61751154		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:143958291C>T	ENST00000292427.4	-	4	638	c.606G>A	c.(604-606)ttG>ttA	p.L202L	CYP11B1_ENST00000377675.3_Silent_p.L273L|CYP11B1_ENST00000517471.1_Silent_p.L202L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	202					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAAAGAGCCAAGTTGCTGG	0.642									Familial Hyperaldosteronism type I				.|||	1	0.000199681	8e-04	0	5008	,	,		19690	0		0	False		,,,				2504	0					.											0													37	38	38					8																	143958291		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.606G>A	8.37:g.143958291C>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143958291	C	T	143958291	2	4	48	1	0	0	0	0	0	0	0	1	4145	593	21	4		4	CYP11B1	8	143958291	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	56547486	143958291	2405731	91	4760											
SCRIB	23513	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	144890886	144890886	+	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	ctcctctacctcctcctcctGaggactaccctcttcctcct	4	13	3	21	0	2	1	0	1	2	0	8	2	8	2	8	1	2	0	8	1	2	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:144890886G>A	ENST00000320476.3	-	15	2014	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q589*|SCRIB_ENST00000356994.2_Nonsense_Mutation_p.Q670*	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	670	Glu-rich.|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)				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)			tcctcctcctgaggactaccc	0.667																																					Pancreas(51;966 1133 10533 14576 29674)	.											0													89	84	86					8																	144890886		2203	4300	6503	SO:0001587	stop_gained	23513			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.2008C>T	8.37:g.144890886G>A	ENSP00000322938:p.Gln670*		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	36	5.722268	0.96839	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	.	.	.	1.38	-0.764	0.11027	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	5.1013	0.14760	0.0:0.2124:0.5761:0.2115	.	.	.	.	X	670;670;589;39	.	ENSP00000322938:Q670X	Q	-	1	0	SCRIB	144962874	0.000000	0.05858	0.085000	0.20634	0.044000	0.14063	-0.134000	0.10436	0.194000	0.20326	0.197000	0.17608	CAG		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144890886	G	A	144890886	4	1	48	1	0	0	0	0	0	1	0	0	13937	1299	45	4	3051	4	SCRIB	8	144890886	Nonsense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	932595	144890886	1473136	92	4761											
FOXD4	2298	broad.mit.edu	37	chr9	117662	117663	+	Frame_Shift_Ins	INS	-	-	G																															gttcagcgagaggttgtggcINSggatgctgttctgccaggcg																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:117662_117663insG	ENST00000382500.2	-	1	754_755	c.457_458insC	c.(457-459)cgcfs	p.R153fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	153					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)		GAGGTTGTGGCGGATGCTGTTC	0.658																																						.											0																																										SO:0001589	frameshift_variant	2298			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.458dupC	9.37:g.117664_117664dupG	ENSP00000371940:p.Arg153fs		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	CCDS34975.1																																																																																				0.658	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		G	117663	-	G	117662	7	5	48	1	0	1	1	0	0	0	0	0	5999	768	27	0	865	0	FOXD4	9	117662	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10		117662	141095769	93	4762											
AQP7	364	mdanderson.org	37	chr9	33385690	33385690	+	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	agcaatgaaggtgaagatgcGggggggcaggtcccgggacg	10	4	20	7	3	0	3	0	2	0	1	1	4	1	4	1	6	2	2	1	6	3	0	rs139024279		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33385690G>T	ENST00000537089.1	-	6	742	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	AQP7_ENST00000541274.1_Missense_Mutation_p.P102Q|AQP7_ENST00000539936.1_Missense_Mutation_p.R234S|AQP7_ENST00000377425.4_Missense_Mutation_p.R177S			O14520	AQP7_HUMAN	aquaporin 7	234					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)	p.R234fs*35(1)		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)		GTGAAGATGCGGGGGGGCAGG	0.577																																						.											1	Insertion - Frameshift(1)	lung(1)											74	81	78					9																	33385690		2203	4300	6503	SO:0001583	missense	364			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.424C>A	9.37:g.33385690G>T	ENSP00000441619:p.Arg142Ser		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.50|14.50	2.553881|2.553881	0.45487|0.45487	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000541274|ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T|T;T;T;T;T;T;T;T;T	0.57273|0.13196	0.41|2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61	5.04|5.04	4.07|4.07	0.47477|0.47477	.|Aquaporin-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49474|0.49474	0.1559|0.1559	H|H	0.97315|0.97315	3.98|3.98	0.58432|0.58432	D|D	0.999997|0.999997	P|D;P;P;P	0.39216|0.55800	0.664|0.973;0.872;0.525;0.795	B|D;D;P;P	0.36289|0.67900	0.221|0.954;0.923;0.814;0.878	T|T	0.64550|0.64550	-0.6381|-0.6381	9|10	0.87932|0.66056	D|D	0|0.02	-16.683|-16.683	12.4686|12.4686	0.55773|0.55773	0.0:0.0:0.8227:0.1772|0.0:0.0:0.8227:0.1772	.|.	102|233;234;177;234	B7Z7F6|Q5T5M0;B7Z4U2;Q6P5T0;O14520	.|.;.;.;AQP7_HUMAN	Q|S	102|142;233;102;234;177;142;233;234;170	ENSP00000438860:P102Q|ENSP00000441619:R142S;ENSP00000368821:R233S;ENSP00000412868:R102S;ENSP00000297988:R234S;ENSP00000396111:R177S;ENSP00000410138:R142S;ENSP00000368820:R233S;ENSP00000439534:R234S;ENSP00000368817:R170S	ENSP00000438860:P102Q|ENSP00000297988:R234S	P|R	-|-	2|1	0|0	AQP7|AQP7	33375690|33375690	0.731000|0.731000	0.28111|0.28111	0.404000|0.404000	0.26397|0.26397	0.223000|0.223000	0.24884|0.24884	1.249000|1.249000	0.32839|0.32839	2.621000|2.621000	0.88768|0.88768	0.550000|0.550000	0.68814|0.68814	CCG|CGC		0.577	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385690	G	T	33385690	3	4	48	1	0	0	0	0	1	0	0	0	831	1116	39	5	336	5	AQP7	9	33385690	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	33268028	33385690	107827741	94	4763			2	37		5	3	504	N	G_C	7.695331e-06
AQP7	364	mdanderson.org	37	chr9	33386144	33386144	+	Silent	SNP	G	G	A																															gcaaaaatgccagctgtagcGacgggaccggtcaccatcag																								rs76209395	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386144G>A	ENST00000537089.1	-	5	498	c.180C>T	c.(178-180)gtC>gtT	p.V60V	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Silent_p.V152V|AQP7_ENST00000377425.4_Silent_p.V95V			O14520	AQP7_HUMAN	aquaporin 7	152					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)		CAGCTGTAGCGACGGGACCGG	0.582																																						.											0													86	80	82					9																	33386144		2203	4300	6503	SO:0001819	synonymous_variant	364			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.180C>T	9.37:g.33386144G>A			Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000537089.1	37																																																																																					0.582	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33386144	G	A	33386144	2	1	48	1	0	0	0	0	0	0	0	1	831	1045	37	1		1	AQP7	9	33386144	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	454	33386144	107827287	95	4764	116	3	2	37		5	3	504	N	G_C	7.695331e-06
AQP7	364	mdanderson.org	37	chr9	33386146	33386146	+	Missense_Mutation	SNP	C	C	A																															aaaaatgccagctgtagcgaCgggaccggtcaccatcagct																								rs76608797		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386146C>A	ENST00000537089.1	-	5	496	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.V152F|AQP7_ENST00000377425.4_Missense_Mutation_p.V95F			O14520	AQP7_HUMAN	aquaporin 7	152					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)		GCTGTAGCGACGGGACCGGTC	0.582																																						.											0													86	80	82					9																	33386146		2203	4300	6503	SO:0001583	missense	364			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.178G>T	9.37:g.33386146C>A	ENSP00000441619:p.Val60Phe		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	9.634	1.137210	0.21123	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	3.98	-1.55	0.08558	Aquaporin-like (2);	1.211120	0.05677	N	0.589625	T	0.69233	0.3088	N	0.16166	0.38	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.13407	0.003;0.002;0.009;0.002	T	0.52223	-0.8604	10	0.17369	T	0.5	2.1417	4.6196	0.12444	0.0:0.225:0.4403:0.3347	.	151;152;95;152	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	F	60;151;20;152;95;60;151;152;88	ENSP00000441619:V60F;ENSP00000368821:V151F;ENSP00000412868:V20F;ENSP00000297988:V152F;ENSP00000396111:V95F;ENSP00000410138:V60F;ENSP00000368820:V151F;ENSP00000439534:V152F;ENSP00000368817:V88F	ENSP00000297988:V152F	V	-	1	0	AQP7	33376146	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.006000	0.13152	-0.272000	0.09259	-0.320000	0.08662	GTC		0.582	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33386146	C	A	33386146	3	1	48	1	0	0	0	0	1	0	0	0	831	536	19	5	586	5	AQP7	9	33386146	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2	33386146	107827285	96	4765	116	3	2	37		5	3	504	N	G_C	7.695331e-06
AQP7	364	mdanderson.org	37	chr9	33386152	33386152	+	Missense_Mutation	SNP	C	C	A																															gccagctgtagcgacgggacCggtcaccatcagctgtccac																								rs144445015	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386152C>A	ENST00000537089.1	-	5	490	c.172G>T	c.(172-174)Ggt>Tgt	p.G58C	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.G150C|AQP7_ENST00000377425.4_Missense_Mutation_p.G93C			O14520	AQP7_HUMAN	aquaporin 7	150					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)		GCGACGGGACCGGTCACCATC	0.577													-|||	2	0.000399361	0	0	5008	,	,		18166	0.002		0	False		,,,				2504	0					.											0													86	80	82					9																	33386152		2203	4300	6503	SO:0001583	missense	364			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.172G>T	9.37:g.33386152C>A	ENSP00000441619:p.Gly58Cys		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	25.7	4.668622	0.88348	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	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	3.98	3.98	0.46160	Aquaporin-like (2);	0.096735	0.64402	D	0.000001	T	0.45498	0.1345	M	0.93678	3.445	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;0.998	T	0.56727	-0.7931	10	0.87932	D	0	-10.2624	11.903	0.52694	0.0:1.0:0.0:0.0	.	149;150;93;150	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	C	58;149;18;150;93;58;149;150;86	ENSP00000441619:G58C;ENSP00000368821:G149C;ENSP00000412868:G18C;ENSP00000297988:G150C;ENSP00000396111:G93C;ENSP00000410138:G58C;ENSP00000368820:G149C;ENSP00000439534:G150C;ENSP00000368817:G86C	ENSP00000297988:G150C	G	-	1	0	AQP7	33376152	1.000000	0.71417	0.138000	0.22173	0.379000	0.30106	6.942000	0.75928	2.507000	0.84556	0.645000	0.84053	GGT		0.577	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33386152	C	A	33386152	3	1	48	1	0	0	0	0	1	0	0	0	831	652	23	5	592	5	AQP7	9	33386152	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	6	33386152	107827279	97	4766	116	3	2	37		5	3	504	N	G_C	7.695331e-06
AQP7	364	mdanderson.org	37	chr9	33386193	33386193	+	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	ccgaaaagtggagaatggccGctgcggagacacagactgtc	12	5	14	10	3	0	3	0	0	0	3	1	6	0	3	2	3	1	1	2	3	3	0	rs199840488		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386193G>A	ENST00000537089.1	-	5	449	c.131C>T	c.(130-132)aCg>aTg	p.T44M	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Splice_Site_p.T136M|AQP7_ENST00000377425.4_Splice_Site_p.T79M			O14520	AQP7_HUMAN	aquaporin 7	136					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)		GAGAATGGCCGCTGCGGAGAC	0.567																																						.											0													71	70	70					9																	33386193		2203	4300	6503	SO:0001630	splice_region_variant	364			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.131-1C>T	9.37:g.33386193G>A			Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	17.06	3.291580	0.59976	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	3.98	-7.38	0.01407	Aquaporin-like (2);	2.946990	0.01163	N	0.006685	T	0.09158	0.0226	L	0.43923	1.385	0.09310	N	1	B;B;B;P	0.35780	0.174;0.16;0.174;0.52	B;B;B;B	0.26202	0.008;0.067;0.046;0.011	T	0.20174	-1.0283	10	0.87932	D	0	.	3.8747	0.09051	0.0816:0.336:0.1506:0.4317	.	135;136;79;136	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	M	44;135;4;136;79;44;135;136;72	ENSP00000441619:T44M;ENSP00000368821:T135M;ENSP00000412868:T4M;ENSP00000297988:T136M;ENSP00000396111:T79M;ENSP00000410138:T44M;ENSP00000368820:T135M;ENSP00000439534:T136M;ENSP00000368817:T72M	ENSP00000297988:T136M	T	-	2	0	AQP7	33376193	0.000000	0.05858	0.002000	0.10522	0.883000	0.51084	-0.324000	0.07986	-1.638000	0.01529	0.645000	0.84053	ACG		0.567	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	Missense_Mutation	A	33386193	G	A	33386193	5	1	48	1	0	0	0	0	0	0	1	0	831	1101	38	1	633	1	AQP7	9	33386193	Splice_Site	SNP	G	TCGA-KN-8433-01A-11D-2310-10	41	33386193	107827238	98	4767			2	37		5	3	504	N	G_C	7.695331e-06
PRSS3	5646	mdanderson.org	37	chr9	33796672	33796673	+	Missense_Mutation	DNP	TG	TG	CA																															tttgacgatgatgacaagatTgttgggggctacacctgtga																								rs77765166|rs76740888		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33796672_33796673TG>CA	ENST00000361005.5	+	2	243_244	c.243_244TG>CA	c.(241-246)atTGtt>atCAtt	p.V82I	PRSS3_ENST00000429677.3_Missense_Mutation_p.V18I|PRSS3_ENST00000342836.4_Missense_Mutation_p.V39I|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.V25I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	82	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)			ATGACAAGATTGTTGGGGGCTA	0.554																																						.											0																																										SO:0001583	missense	5646				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	Exception_encountered	9.37:g.33796672_33796673delinsCA	ENSP00000354280:p.Val82Ile		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	DNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.554	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		CA	33796673	TG	CA	33796672	3	2	48	1	0	0	0	0	1	0	0	0	12622	1800	63	4	293	4	PRSS3	9	33796672	Missense_Mutation	DNP	TG	TCGA-KN-8433-01A-11D-2310-10	410479	33796672	107416759	99	4768											
ALDH1B1	219	mdanderson.org;bcgsc.ca	37	chr9	38396065	38396065	+	Missense_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	gcggggccggctgctgaaccGcctggcagacctagtggagc	6	5	17	13	3	0	2	0	1	0	1	0	3	0	3	4	5	3	3	4	5	2	1	rs2073478	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:38396065G>T	ENST00000377698.3	+	2	473	c.320G>T	c.(319-321)cGc>cTc	p.R107L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	107			L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15164053, ECO:0000269|PubMed:8244338}.		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)		CTGCTGAACCGCCTGGCAGAC	0.627													G|||	1978	0.394968	0.2572	0.3646	5008	,	,		17971	0.3036		0.6093	False		,,,				2504	0.4765					.											0								G	LEU/ARG	1354,3052	450.6+/-349.4	214,926,1063	80	89	86		320	2.8	1	9	dbSNP_96	86	5192,3408	639.3+/-399.4	1574,2044,682	yes	missense	ALDH1B1	NM_000692.4	102	1788,2970,1745	TT,TG,GG		39.6279,30.7308,49.6694	benign	107/518	38396065	6546,6460	2203	4300	6503	SO:0001583	missense	219			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.320G>T	9.37:g.38396065G>T	ENSP00000366927:p.Arg107Leu		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	917	0.4198717948717949	140	0.2845528455284553	156	0.430939226519337	167	0.291958041958042	454	0.5989445910290238	G	17.79	3.476510	0.63737	0.307308	0.603721	ENSG00000137124	ENST00000377698	T	0.78246	-1.16	5.61	2.79	0.32731	.	0.182441	0.37761	N	0.001953	T	0.00012	0.0000	.	.	.	0.23563	P	0.99740854	.	.	.	.	.	.	T	0.48758	-0.9007	6	0.72032	D	0.01	.	7.7413	0.28843	0.1173:0.0:0.7444:0.1383	rs2073478;rs17844915;rs17857639;rs56596067;rs60107705;rs2073478	.	.	.	L	107	ENSP00000366927:R107L	ENSP00000366927:R107L	R	+	2	0	ALDH1B1	38386065	0.493000	0.26035	0.990000	0.47175	0.995000	0.86356	2.228000	0.42981	0.332000	0.23536	0.655000	0.94253	CGC		0.627	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			T	38396065	G	T	38396065	3	4	48	1	0	0	0	0	1	0	0	0	493	1087	38	5	322	5	ALDH1B1	9	38396065	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	4599393	38396065	102817366	100	4769											
CNTNAP3	79937	mdanderson.org	37	chr9	39140621	39140621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgtgggcttcacaagActgctcgtagagagctgtag	8	11	14	8	1	1	2	1	0	0	2	2	3	1	2	0	1	3	6	0	1	3	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:39140621A>G	ENST00000297668.6	-	12	1844	c.1771T>C	c.(1771-1773)Tct>Cct	p.S591P	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S498P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S591P|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S591P|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S503P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	591	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCTTCACAAGACTGCTCGTAG	0.463																																						.											0													28	32	31					9																	39140621		2202	4299	6501	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1771T>C	9.37:g.39140621A>G	ENSP00000297668:p.Ser591Pro		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076280	0.36662	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	2.85	2.85	0.33270	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (5);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.65037	0.2653	M	0.92604	3.325	0.35856	D	0.827122	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.98;0.997;0.991;0.999;0.995	T	0.76429	-0.2962	9	0.66056	D	0.02	.	10.1498	0.42786	1.0:0.0:0.0:0.0	.	498;591;591;591;591	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	P	591;591;503;498;591	ENSP00000297668:S591P;ENSP00000366884:S591P;ENSP00000350863:S503P;ENSP00000320728:S498P;ENSP00000366887:S591P	ENSP00000297668:S591P	S	-	1	0	CNTNAP3	39130621	1.000000	0.71417	0.576000	0.28549	0.024000	0.10985	7.878000	0.87231	1.304000	0.44892	0.361000	0.22055	TCT		0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		G	39140621	A	G	39140621	3	3	48	1	0	0	0	0	1	0	0	0	3648	275	10	2	2147	2	CNTNAP3	9	39140621	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	744556	39140621	102072810	101	4770											
C5	727	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	123783821	123783821	+	Missense_Mutation	SNP	T	T	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	ccgtcactccagatgggagaTtaagcacaaaggaagctact	14	7	10	10	1	1	2	1	0	0	2	2	4	2	3	2	2	3	2	2	2	4	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:123783821T>C	ENST00000223642.1	-	11	1297	c.1268A>G	c.(1267-1269)aAt>aGt	p.N423S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	423					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)	AGATGGGAGATTAAGCACAAA	0.418																																						.											0													172	140	151					9																	123783821		2203	4300	6503	SO:0001583	missense	727			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.1268A>G	9.37:g.123783821T>C	ENSP00000223642:p.Asn423Ser		Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353403	0.82243	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.36340	1.26	5.97	5.97	0.96955	.	0.041242	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89715	3.055	0.47183	D	0.999349	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.71866	-0.4463	10	0.44086	T	0.13	.	15.642	0.77012	0.0:0.0:0.0:1.0	.	494;423	Q59GS8;P01031	.;CO5_HUMAN	S	423;494	ENSP00000223642:N423S	ENSP00000223642:N423S	N	-	2	0	C5	122823642	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.307000	0.65762	2.288000	0.76882	0.533000	0.62120	AAT		0.418	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		C	123783821	T	C	123783821	3	2	48	1	0	0	0	0	1	0	0	0	2280	1493	52	4	3886	4	C5	9	123783821	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	84643200	123783821	17429610	102	4771											
SFTPA1	653509	mdanderson.org	37	chr10	81371398	81371398	+	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	gaggccatgccaggtgccagGtgatgctgggaattttcccg	7	9	15	10	1	0	1	0	1	0	0	1	3	1	2	4	4	3	1	4	4	1	2	rs3997773	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:81371398G>A	ENST00000398636.3	+	3	115				SFTPA1_ENST00000372308.3_Splice_Site|SFTPA1_ENST00000428376.2_Intron|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000419470.2_Splice_Site	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1						lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	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)			CAGGTGCCAGGTGATGCTGGG	0.642													g|||	11	0.00219649	0.0053	0.0043	5008	,	,		17545	0		0	False		,,,				2504	0.001					.											0													28	34	32					10																	81371398		692	1591	2283	SO:0001627	intron_variant	653509			BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"Collectins"	10798	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A1A"	178630	"surfactant, pulmonary-associated protein A1"	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.-23-161G>A	10.37:g.81371398G>A			A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Splice_Site	SNP	ENST00000398636.3	37	CCDS44445.1	95	0.043498168498168496	15	0.03048780487804878	10	0.027624309392265192	22	0.038461538461538464	48	0.0633245382585752	g	5.406	0.260129	0.10239	.	.	ENSG00000122852	ENST00000419470	.	.	.	2.71	0.308	0.15815	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9149	0.13840	0.7088:0.0:0.2912:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SFTPA1	81041404	0.001000	0.12720	0.002000	0.10522	0.161000	0.22273	0.952000	0.29149	0.022000	0.15160	-0.832000	0.03076	.		0.642	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		A	81371398	G	A	81371398	1	1	48	0	1	0	0	0	0	0	0	0	14189	1275	44	3		3	SFTPA1	10	81371398	Intron	SNP	G	TCGA-KN-8433-01A-11D-2310-10		81371398	54163349	103	4772											
FAM35A	54537	mdanderson.org	37	chr10	88911273	88911273	+	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	ttatatctgaaggatgaaaaAcagcacaaaaatcttgaaaa	21	9	6	5	0	2	3	0	3	2	0	2	4	2	4	0	1	2	1	0	1	9	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:88911273A>G	ENST00000298784.1	+	3	276	c.162A>G	c.(160-162)aaA>aaG	p.K54K	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Silent_p.K54K	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	54										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGGATGAAAAACAGCACAAAA	0.348																																					Ovarian(175;703 2004 25460 32514 43441)	.											0													36	38	37					10																	88911273		2202	4297	6499	SO:0001819	synonymous_variant	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.162A>G	10.37:g.88911273A>G			O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	CCDS7383.1																																																																																				0.348	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		G	88911273	A	G	88911273	2	3	48	1	0	0	0	0	0	0	0	1	5553	40	2	2		2	FAM35A	10	88911273	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	7539875	88911273	46623474	104	4773											
CHUK	1147	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	101969426	101969426	+	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	tgtctctgaaagaagttcttGagaaccagtatttattccag	12	14	8	7	0	2	3	0	2	2	2	4	4	3	3	2	0	1	2	2	0	5	6	rs34838525		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:101969426G>A	ENST00000370397.7	-	10	1140	c.1054C>T	c.(1054-1056)Caa>Taa	p.Q352*		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	352					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGAAGTTCTTGAGAACCAGTA	0.373																																					Ovarian(159;52 1904 10536 35305 37148)	.											0													69	70	69					10																	101969426		2203	4300	6503	SO:0001587	stop_gained	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1054C>T	10.37:g.101969426G>A	ENSP00000359424:p.Gln352*		O14666|Q13132|Q5W0I4|Q92467	Nonsense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	G	37	6.269173	0.97431	.	.	ENSG00000213341	ENST00000370397	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.278	17.8404	0.88713	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000359424:Q352X	Q	-	1	0	CHUK	101959416	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	CAA		0.373	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		A	101969426	G	A	101969426	4	1	48	1	0	0	0	0	0	1	0	0	3416	1299	45	4	1231	4	CHUK	10	101969426	Nonsense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	13058153	101969426	33565321	105	4774											
SLK	9748	hgsc.bcm.edu	37	chr10	105762029	105762030	+	Frame_Shift_Ins	INS	-	-	A																															tattttggagtctgtctcagINSaaaaaacagaacgtagtaac																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:105762029_105762030insA	ENST00000369755.3	+	9	1638_1639	c.1093_1094insA	c.(1093-1095)gaafs	p.E365fs	SLK_ENST00000335753.4_Frame_Shift_Ins_p.E365fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	365	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTCTGTCTCAGAAAAAACAGAA	0.386																																					NSCLC(111;540 1651 1927 4474 17706)	.											0																																										SO:0001589	frameshift_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1099dupA	10.37:g.105762035_105762035dupA	ENSP00000358770:p.Glu365fs		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Ins	INS	ENST00000369755.3	37	CCDS7553.1																																																																																				0.386	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		A	105762030	-	A	105762029	7	5	48	1	0	1	1	0	0	0	0	0	14748	943	33	0	1127	0	SLK	10	105762029	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	3792603	105762029	29772718	106	4775	117	2									
SLK	9748	bcgsc.ca	37	chr10	105762030	105762031	+	Frame_Shift_Ins	INS	-	-	A																															attttggagtctgtctcagaINSaaaaacagaacgtagtaact																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:105762030_105762031insA	ENST00000369755.3	+	9	1639_1640	c.1094_1095insA	c.(1093-1098)gaaaaafs	p.EK365fs	SLK_ENST00000335753.4_Frame_Shift_Ins_p.EK365fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	365	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTGTCTCAGAAAAAACAGAAC	0.386																																					NSCLC(111;540 1651 1927 4474 17706)	.											0																																										SO:0001589	frameshift_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1099dupA	10.37:g.105762035_105762035dupA	ENSP00000358770:p.Glu365fs		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Ins	INS	ENST00000369755.3	37	CCDS7553.1																																																																																				0.386	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		A	105762031	-	A	105762030	7	5	48	1	0	1	1	0	0	0	0	0	14748	246	9	0	1128	0	SLK	10	105762030	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	1	105762030	29772717	107	4776	117	2									
MUC6	4588	mdanderson.org	37	chr11	1016243	1016243	+	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	gacactgatgcagtcgtgggAtgagtggacaatgaggagtg	11	8	17	5	1	0	3	0	3	0	0	1	7	0	6	0	3	1	1	0	3	1	0			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016243A>G	ENST00000421673.2	-	31	6608	c.6558T>C	c.(6556-6558)caT>caC	p.H2186H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2186	Ser-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)		CAGTCGTGGGATGAGTGGACA	0.547																																						.											0													34	37	36					11																	1016243		2144	4233	6377	SO:0001819	synonymous_variant	4588			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.6558T>C	11.37:g.1016243A>G			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		G	1016243	A	G	1016243	2	3	48	1	0	0	0	0	0	0	0	1	9980	330	12	4		4	MUC6	11	1016243	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10		1016243	133990273	108	4777			3	38		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	chr11	1016604	1016605	+	Missense_Mutation	DNP	AC	AC	GG																															ggctggtcccactggtggtcActgtcattggtggggctgtg																								rs147913342|rs148590913		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016604_1016605AC>GG	ENST00000421673.2	-	31	6246_6247	c.6196_6197GT>CC	c.(6196-6198)GTg>CCg	p.V2066P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2066	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)		ACTGGTGGTCACTGTCATTGGT	0.579																																						.											0																																										SO:0001583	missense	4588			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.6196_6197delinsGG	11.37:g.1016604_1016605delinsGG	ENSP00000406861:p.Val2066Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	DNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.579	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		GG	1016605	AC	GG	1016604	3	3	48	1	0	0	0	0	1	0	0	0	9980	159	6	2	1134	2	MUC6	11	1016604	Missense_Mutation	DNP	AC	TCGA-KN-8433-01A-11D-2310-10	361	1016604	133989912	109	4778			3	38		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	chr11	1016770	1016770	+	Missense_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	caccaaggaggtggagaaagGtggaacgtgagtgggaagtg	13	5	19	4	1	0	2	0	1	0	1	0	6	0	5	1	6	1	0	1	6	4	0			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016770G>A	ENST00000421673.2	-	31	6081	c.6031C>T	c.(6031-6033)Cct>Tct	p.P2011S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2011	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)	p.P2011S(1)		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)		GTGGAGAAAGGTGGAACGTGA	0.532																																						.											1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	4588			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.6031C>T	11.37:g.1016770G>A	ENSP00000406861:p.Pro2011Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638370	0.00799	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06735	0.0172	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39014	-0.9634	9	0.07990	T	0.79	.	1.1636	0.01810	0.3722:0.1007:0.2914:0.2356	.	2011	Q6W4X9	MUC6_HUMAN	S	2011	ENSP00000406861:P2011S	ENSP00000406861:P2011S	P	-	1	0	MUC6	1006770	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.781000	0.00773	-2.945000	0.00295	-0.671000	0.03813	CCT		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016770	G	A	1016770	3	1	48	1	0	0	0	0	1	0	0	0	9980	1261	44	3	1300	3	MUC6	11	1016770	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	166	1016770	133989746	110	4779			3	38		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	chr11	1017088	1017088	+	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	cgtgctaaatgagcttggggAttggctggtcccactggtgg	6	11	16	8	1	0	1	0	1	0	0	1	2	1	2	1	6	2	3	1	6	2	3	rs74990443		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1017088A>C	ENST00000421673.2	-	31	5763	c.5713T>G	c.(5713-5715)Tcc>Gcc	p.S1905A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1905	Approximate repeats.|Thr-rich.			SP -> AA (in Ref. 5; AAA35866). {ECO:0000305}.	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)		GAGCTTGGGGATTGGCTGGTC	0.547																																						.											0													644	677	666					11																	1017088		2200	4281	6481	SO:0001583	missense	4588			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.5713T>G	11.37:g.1017088A>C	ENSP00000406861:p.Ser1905Ala		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	a	0.028	-1.355862	0.01245	.	.	ENSG00000184956	ENST00000421673	T	0.18174	2.23	3.01	-6.01	0.02199	.	.	.	.	.	T	0.02533	0.0077	N	0.00268	-1.735	0.09310	N	1	B	0.22851	0.076	B	0.30251	0.113	T	0.22487	-1.0215	9	0.07644	T	0.81	.	1.0607	0.01600	0.4226:0.139:0.111:0.3274	.	1905	Q6W4X9	MUC6_HUMAN	A	1905	ENSP00000406861:S1905A	ENSP00000406861:S1905A	S	-	1	0	MUC6	1007088	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.715000	0.00385	-2.137000	0.00809	-0.672000	0.03802	TCC		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017088	A	C	1017088	3	2	48	1	0	0	0	0	1	0	0	0	9980	333	12	5	1618	5	MUC6	11	1017088	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	318	1017088	133989428	111	4780			3	38		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	chr11	1017226	1017226	+	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	agtggccatctgtgtgtgggTagggatgatgaccgtgtgag	7	11	18	5	1	1	3	0	3	1	0	1	4	1	4	2	3	0	1	2	3	1	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1017226T>G	ENST00000421673.2	-	31	5625	c.5575A>C	c.(5575-5577)Acc>Ccc	p.T1859P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1859	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)		TGTGTGTGGGTAGGGATGATG	0.562																																						.											0													303	303	303					11																	1017226		2191	4282	6473	SO:0001583	missense	4588			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.5575A>C	11.37:g.1017226T>G	ENSP00000406861:p.Thr1859Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975777	0.34848	.	.	ENSG00000184956	ENST00000421673	T	0.28255	1.62	2.55	2.55	0.30701	.	.	.	.	.	T	0.49253	0.1546	M	0.69358	2.11	0.23602	N	0.997314	D	0.89917	1.0	D	0.85130	0.997	T	0.18681	-1.0329	9	0.41790	T	0.15	.	8.9081	0.35537	0.0:0.0:0.0:1.0	.	1859	Q6W4X9	MUC6_HUMAN	P	1859	ENSP00000406861:T1859P	ENSP00000406861:T1859P	T	-	1	0	MUC6	1007226	0.044000	0.20184	0.026000	0.17262	0.023000	0.10783	-1.754000	0.01816	1.436000	0.47453	0.260000	0.18958	ACC		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017226	T	G	1017226	3	3	48	1	0	0	0	0	1	0	0	0	9980	1638	57	5	1756	5	MUC6	11	1017226	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	138	1017226	133989290	112	4781			3	38		6	6	2098	N	T_G_AC_A	9.685436e-12
MUC6	4588	mdanderson.org	37	chr11	1018340	1018340	+	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	cctgtggccttgagcgttgtTggtggaggaatggtacctgt	5	13	16	7	1	0	1	0	1	0	0	0	3	0	3	3	5	2	3	3	5	2	4	rs77556339		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1018340T>C	ENST00000421673.2	-	31	4511	c.4461A>G	c.(4459-4461)ccA>ccG	p.P1487P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1487	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)		TGAGCGTTGTTGGTGGAGGAA	0.572																																						.											0													270	276	274					11																	1018340		2185	4270	6455	SO:0001819	synonymous_variant	4588			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.4461A>G	11.37:g.1018340T>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1018340	T	C	1018340	2	2	48	1	0	0	0	0	0	0	0	1	9980	1799	63	4		4	MUC6	11	1018340	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1114	1018340	133988176	113	4782			3	38		6	6	2098	N	T_G_AC_A	9.685436e-12
OR51B6	390058	mdanderson.org	37	chr11	5373489	5373489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcctggtcttctatgTcactgtagtttgtctgacat	6	17	8	10	0	4	1	1	1	3	0	5	1	5	1	1	1	1	3	1	1	2	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:5373489T>C	ENST00000380219.1	+	1	752	c.752T>C	c.(751-753)gTc>gCc	p.V251A	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	251					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)		GTCTTCTATGTCACTGTAGTT	0.443																																						.											0													243	214	224					11																	5373489		2201	4297	6498	SO:0001583	missense	390058				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.752T>C	11.37:g.5373489T>C	ENSP00000369568:p.Val251Ala			Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312400	0.40895	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.38240	1.15	4.89	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.423027	0.19753	N	0.106855	T	0.42720	0.1215	M	0.73217	2.22	0.25539	N	0.987191	B	0.34349	0.45	B	0.41917	0.37	T	0.41805	-0.9488	10	0.72032	D	0.01	.	8.6465	0.34009	0.0:0.0915:0.0:0.9085	.	251	Q9H340	O51B6_HUMAN	A	250;251	ENSP00000369568:V251A	ENSP00000369568:V251A	V	+	2	0	OR51B6	5330065	0.001000	0.12720	0.761000	0.31378	0.953000	0.61014	1.201000	0.32259	0.883000	0.36040	0.455000	0.32223	GTC		0.443	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		C	5373489	T	C	5373489	3	2	48	1	0	0	0	0	1	0	0	0	11092	1667	58	2	754	2	OR51B6	11	5373489	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	4355149	5373489	129633027	114	4783											
RRP8	23378	mdanderson.org	37	chr11	6623149	6623149	+	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	tgtttctggcatttcctcttTcttttctcatcttcagcaga	5	20	5	11	0	6	1	2	0	5	1	8	1	7	1	1	1	1	3	1	1	0	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6623149T>C	ENST00000254605.6	-	2	513	c.396A>G	c.(394-396)agA>agG	p.R132R	ILK_ENST00000420936.2_5'Flank|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000528995.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000299421.4_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	132					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						ATTTCCTCTTTCTTTTCTCAT	0.463																																						.											0													165	149	155					11																	6623149		2201	4296	6497	SO:0001819	synonymous_variant	23378			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.396A>G	11.37:g.6623149T>C			Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	37	CCDS31411.1																																																																																				0.463	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		C	6623149	T	C	6623149	2	2	48	1	0	0	0	0	0	0	0	1	13690	1780	62	4		4	RRP8	11	6623149	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1249660	6623149	128383367	115	4784											
OR2AG2	338755	mdanderson.org	37	chr11	6789972	6789972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagtgacaacagatgtgaAcaggaggtccatgagagaga	15	5	16	5	0	0	5	0	3	0	3	1	9	1	7	1	3	2	0	1	3	2	0			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6789972A>G	ENST00000338569.2	-	1	314	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	73						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(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGATGTGAACAGGAGGTCC	0.557																																						.											0													139	127	131					11																	6789972		2201	4293	6494	SO:0001583	missense	338755			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.217T>C	11.37:g.6789972A>G	ENSP00000342697:p.Phe73Leu			Missense_Mutation	SNP	ENST00000338569.2	37	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	A	6.014	0.370903	0.11409	.	.	ENSG00000188124	ENST00000338569	T	0.14022	2.54	4.15	1.83	0.25207	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.07413	0.0187	L	0.31420	0.93	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.42258	-0.9462	10	0.06625	T	0.88	.	7.0855	0.25255	0.8036:0.0:0.1964:0.0	.	73	A6NM03	O2AG2_HUMAN	L	73	ENSP00000342697:F73L	ENSP00000342697:F73L	F	-	1	0	OR2AG2	6746548	0.117000	0.22190	0.399000	0.26333	0.994000	0.84299	4.445000	0.60007	0.400000	0.25396	0.459000	0.35465	TTC		0.557	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		G	6789972	A	G	6789972	3	3	48	1	0	0	0	0	1	0	0	0	10985	43	2	2	737	2	OR2AG2	11	6789972	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	166823	6789972	128216544	116	4785											
OR10A2	341276	mdanderson.org	37	chr11	6891395	6891395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctgctgcctcctggtTcccaggctttcctgtagcta	4	13	10	14	0	0	0	0	0	0	0	3	0	3	0	4	3	3	6	4	3	2	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6891395T>C	ENST00000307322.4	+	1	472	c.410T>C	c.(409-411)tTc>tCc	p.F137S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	137						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(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCTCCTGGTTCCCAGGCTTT	0.532																																						.											0													141	134	136					11																	6891395		2201	4296	6497	SO:0001583	missense	341276			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.410T>C	11.37:g.6891395T>C	ENSP00000303862:p.Phe137Ser		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	t	13.19	2.162079	0.38217	.	.	ENSG00000170790	ENST00000307322	T	0.37584	1.19	3.99	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.110904	0.41001	D	0.000966	T	0.23410	0.0566	N	0.12663	0.25	0.33175	D	0.548826	B	0.26809	0.16	B	0.37239	0.244	T	0.27123	-1.0083	10	0.48119	T	0.1	.	7.5596	0.27843	0.0:0.1055:0.0:0.8945	.	137	Q9H208	O10A2_HUMAN	S	137	ENSP00000303862:F137S	ENSP00000303862:F137S	F	+	2	0	OR10A2	6847971	0.020000	0.18652	0.999000	0.59377	0.789000	0.44602	1.461000	0.35255	0.705000	0.31890	0.529000	0.55759	TTC		0.532	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		C	6891395	T	C	6891395	3	2	48	1	0	0	0	0	1	0	0	0	10890	1783	62	4	412	4	OR10A2	11	6891395	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	101423	6891395	128115121	117	4786											
SBF2	81846	mdanderson.org	37	chr11	9809226	9809226	+	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	aggtccacggttaccctttcCcacagctgctgccacttctc	6	11	7	17	1	1	0	0	0	1	0	4	0	3	0	4	2	4	3	4	2	1	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:9809226C>T	ENST00000256190.8	-	36	5129	c.4992G>A	c.(4990-4992)tgG>tgA	p.W1664*	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000526617.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1664	Interaction with MTMR2.				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)		TTACCCTTTCCCACAGCTGCT	0.443																																						.											0													125	116	119					11																	9809226		2201	4294	6495	SO:0001587	stop_gained	81846			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.4992G>A	11.37:g.9809226C>T	ENSP00000256190:p.Trp1664*		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	47	13.366877	0.99737	.	.	ENSG00000133812	ENST00000256190;ENST00000532095	.	.	.	6.17	6.17	0.99709	.	0.142478	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1664;52	.	ENSP00000256190:W1664X	W	-	3	0	SBF2	9765802	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.435000	0.80391	2.941000	0.99782	0.655000	0.94253	TGG		0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		T	9809226	C	T	9809226	4	4	48	1	0	0	0	0	0	1	0	0	13859	624	22	3	577	3	SBF2	11	9809226	Nonsense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2917831	9809226	125197290	118	4787											
EIF4G2	1982	mdanderson.org	37	chr11	10823662	10823662	+	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	gtgggaggcatgatgtgtccCccatggccattgaagagttg	8	10	15	8	0	0	3	0	2	0	1	1	4	1	4	3	3	0	2	3	3	1	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:10823662C>T	ENST00000526148.1	-	13	1743	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	EIF4G2_ENST00000339995.5_Silent_p.G411G|EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.G411G|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.G411G	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)		TGATGTGTCCCCCATGGCCAT	0.448																																						.											0													139	122	128					11																	10823662		2201	4294	6495	SO:0001819	synonymous_variant	1982			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.1233G>A	11.37:g.10823662C>T				Silent	SNP	ENST00000526148.1	37	CCDS31428.1																																																																																				0.448	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		T	10823662	C	T	10823662	2	4	48	1	0	0	0	0	0	0	0	1	5037	610	22	3		3	EIF4G2	11	10823662	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1014436	10823662	124182854	119	4788											
MYBPC3	4607	mdanderson.org	37	chr11	47364266	47364266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtatttgaaggtctccTcccgggtcagctccaccccg	6	9	10	16	3	2	1	1	1	1	0	5	1	4	1	6	3	1	2	6	3	2	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:47364266T>C	ENST00000545968.1	-	17	1541	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E495G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E496G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	496	Ig-like C2-type 3.				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)		GAAGGTCTCCTCCCGGGTCAG	0.627																																						.											0													157	158	158					11																	47364266		2142	4252	6394	SO:0001583	missense	4607			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.1487A>G	11.37:g.47364266T>C	ENSP00000442795:p.Glu496Gly		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333648	0.41297	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67345	-0.26;-0.26;-0.26	4.63	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45054	0.1323	N	0.05199	-0.095	0.49213	D	0.999763	B	0.18310	0.027	B	0.26969	0.075	T	0.36841	-0.9731	9	0.11485	T	0.65	.	14.1729	0.65522	0.0:0.0:0.0:1.0	.	495	Q14896	MYPC3_HUMAN	G	496;496;495	ENSP00000442795:E496G;ENSP00000382193:E496G;ENSP00000256993:E495G	ENSP00000256993:E495G	E	-	2	0	MYBPC3	47320842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	1.938000	0.56188	0.379000	0.24179	GAG		0.627	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			C	47364266	T	C	47364266	3	2	48	1	0	0	0	0	1	0	0	0	10013	1551	54	2	2409	2	MYBPC3	11	47364266	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	36540604	47364266	87642250	120	4789											
OR5L1	219437	mdanderson.org	37	chr11	55579068	55579068	+	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	ggagtcacgttgttagccaaCctgggcatgattgcactgat	9	11	12	9	1	1	2	1	2	0	0	1	3	1	3	2	2	3	4	2	2	2	3	rs575553149		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:55579068C>T	ENST00000333973.2	+	1	215	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	42						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)				TGTTAGCCAACCTGGGCATGA	0.498																																						.											0													325	285	299					11																	55579068		2200	4296	6496	SO:0001819	synonymous_variant	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.126C>T	11.37:g.55579068C>T			B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																				0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55579068	C	T	55579068	2	4	48	1	0	0	0	0	0	0	0	1	11170	506	18	3		3	OR5L1	11	55579068	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	8214802	55579068	79427448	121	4790											
OR8J3	81168	mdanderson.org	37	chr11	55905070	55905070	+	Missense_Mutation	SNP	T	T	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	tgagggtgatgatgcccaggTtccctgccatggtcagcaca	8	9	13	11	0	1	3	1	3	0	0	2	3	2	3	3	3	3	2	3	3	0	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:55905070T>C	ENST00000301529.1	-	1	124	c.125A>G	c.(124-126)aAc>aGc	p.N42S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	42						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(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GATGCCCAGGTTCCCTGCCAT	0.488																																						.											0													140	135	137					11																	55905070		2201	4296	6497	SO:0001583	missense	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.125A>G	11.37:g.55905070T>C	ENSP00000301529:p.Asn42Ser		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688331	0.48097	.	.	ENSG00000167822	ENST00000301529	T	0.75477	-0.94	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.88603	0.6481	H	0.94385	3.53	0.22435	N	0.999106	D	0.76494	0.999	D	0.87578	0.998	T	0.81086	-0.1092	10	0.87932	D	0	.	11.5522	0.50726	0.0:0.0:0.0:1.0	.	42	Q8NGG0	OR8J3_HUMAN	S	42	ENSP00000301529:N42S	ENSP00000301529:N42S	N	-	2	0	OR8J3	55661646	1.000000	0.71417	0.330000	0.25442	0.569000	0.35902	6.569000	0.73992	1.268000	0.44264	0.240000	0.17902	AAC		0.488	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		C	55905070	T	C	55905070	3	2	48	1	0	0	0	0	1	0	0	0	11242	1725	60	2	824	2	OR8J3	11	55905070	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	326002	55905070	79101446	122	4791											
GPR44	11251	mdanderson.org	37	chr11	60621139	60621139	+	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	gtgttgctgtggctctggagAcggctcatctgctccaggat	5	12	14	10	1	3	1	1	0	2	1	4	3	4	2	1	4	2	5	1	4	0	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:60621139A>G	ENST00000332539.4	-	2	168	c.57T>C	c.(55-57)cgT>cgC	p.R19R	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	19					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)	GGCTCTGGAGACGGCTCATCT	0.642																																						.											0													50	39	43					11																	60621139		2185	4271	6456	SO:0001819	synonymous_variant	11251			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.57T>C	11.37:g.60621139A>G			O94765|Q4QRI6	Silent	SNP	ENST00000332539.4	37	CCDS7994.1																																																																																				0.642	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		G	60621139	A	G	60621139	2	3	48	1	0	0	0	0	0	0	0	1	6695	262	10	2		2	GPR44	11	60621139	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4716069	60621139	74385377	123	4792											
AHNAK	79026	mdanderson.org	37	chr11	62293548	62293548	+	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	gtccacatctggaccttctcCtttgaagccaggcatgctga	8	11	9	13	0	2	2	0	2	2	0	4	3	3	3	4	2	2	2	4	2	1	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:62293548C>T	ENST00000378024.4	-	5	8615	c.8341G>A	c.(8341-8343)Gga>Aga	p.G2781R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2781					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)	p.G2781*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACCTTCTCCTTTGAAGCCA	0.498																																						.											1	Substitution - Nonsense(1)	prostate(1)											211	209	210					11																	62293548		2202	4299	6501	SO:0001583	missense	79026			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.8341G>A	11.37:g.62293548C>T	ENSP00000367263:p.Gly2781Arg		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	17.18	3.322801	0.60634	.	.	ENSG00000124942	ENST00000378024	T	0.05447	3.44	4.05	4.05	0.47172	.	.	.	.	.	T	0.22704	0.0548	M	0.92833	3.35	0.25107	N	0.990747	P	0.48503	0.911	P	0.50082	0.63	T	0.35076	-0.9803	9	0.19147	T	0.46	.	16.2211	0.82258	0.0:1.0:0.0:0.0	.	2781	Q09666	AHNK_HUMAN	R	2781	ENSP00000367263:G2781R	ENSP00000367263:G2781R	G	-	1	0	AHNAK	62050124	0.080000	0.21391	0.985000	0.45067	0.687000	0.40016	0.757000	0.26433	1.964000	0.57103	0.298000	0.19748	GGA		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62293548	C	T	62293548	3	4	48	1	0	0	0	0	1	0	0	0	414	690	24	4	9451	4	AHNAK	11	62293548	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1672409	62293548	72712968	124	4793											
ZNHIT2	741	mdanderson.org	37	chr11	64884065	64884065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctagggccaggggtgtgAgggccgcctcattttcgttg	5	11	16	9	2	2	1	1	1	1	0	3	1	2	1	3	4	0	1	3	4	1	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:64884065A>G	ENST00000310597.4	-	1	1105	c.1061T>C	c.(1060-1062)cTc>cCc	p.L354P	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	354							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGGGTGTGAGGGCCGCCTC	0.637																																						.											0													42	43	43					11																	64884065		2201	4297	6498	SO:0001583	missense	741				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.1061T>C	11.37:g.64884065A>G	ENSP00000308548:p.Leu354Pro		Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.603235	0.66445	.	.	ENSG00000174276	ENST00000310597	T	0.36520	1.25	4.79	4.79	0.61399	.	0.199408	0.31809	U	0.007023	T	0.47838	0.1467	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.50048	-0.8873	10	0.87932	D	0	-18.6649	12.3124	0.54935	1.0:0.0:0.0:0.0	.	354	Q9UHR6	ZNHI2_HUMAN	P	354	ENSP00000308548:L354P	ENSP00000308548:L354P	L	-	2	0	ZNHIT2	64640641	0.893000	0.30496	0.934000	0.37439	0.758000	0.43043	4.025000	0.57225	2.008000	0.58898	0.459000	0.35465	CTC		0.637	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		G	64884065	A	G	64884065	3	3	48	1	0	0	0	0	1	0	0	0	18204	304	11	2	154	2	ZNHIT2	11	64884065	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2590517	64884065	70122451	125	4794											
DYNC2H1	79659	mdanderson.org	37	chr11	103090674	103090674	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaaaaacagaacttgaaAgactgaagcacagaatagca	22	4	8	7	0	0	5	0	2	0	3	0	5	0	5	0	0	5	3	0	0	8	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:103090674A>G	ENST00000375735.2	+	56	9007	c.8863A>G	c.(8863-8865)Aga>Gga	p.R2955G	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R2955G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2955	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)		AGAACTTGAAAGACTGAAGCA	0.264																																						.											0													43	41	41					11																	103090674		1787	4046	5833	SO:0001583	missense	79659			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.8863A>G	11.37:g.103090674A>G	ENSP00000364887:p.Arg2955Gly		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542244	0.27563	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74209	-0.82;-0.82	5.87	5.87	0.94306	Dynein heavy chain, coiled coil stalk (1);	0.460130	0.19925	U	0.102996	T	0.54447	0.1859	N	0.08118	0	0.35390	D	0.790719	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.59101	-0.7517	10	0.31617	T	0.26	.	11.2231	0.48866	0.8628:0.0:0.0:0.1372	.	2955;2955	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	G	2955	ENSP00000364887:R2955G;ENSP00000381167:R2955G	ENSP00000364887:R2955G	R	+	1	2	DYNC2H1	102595884	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	4.123000	0.57917	2.371000	0.80710	0.533000	0.62120	AGA		0.264	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103090674	A	G	103090674	3	3	48	1	0	0	0	0	1	0	0	0	4846	64	3	2	9085	2	DYNC2H1	11	103090674	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	38206609	103090674	31915842	126	4795											
FAM55A	120400	mdanderson.org	37	chr11	114392857	114392857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtgaatataaccatggaAgtctccaaacctctctgtct	13	12	6	10	0	3	1	0	1	3	0	5	2	3	2	3	1	2	0	3	1	6	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:114392857A>G	ENST00000424269.1	-	5	1476	c.1477T>C	c.(1477-1479)Ttc>Ctc	p.F493L	NXPE1_ENST00000536271.1_Missense_Mutation_p.F209L|NXPE1_ENST00000251921.2_Missense_Mutation_p.F351L			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	493						extracellular region (GO:0005576)											TAACCATGGAAGTCTCCAAAC	0.418																																						.											0													190	184	186					11																	114392857		2201	4296	6497	SO:0001583	missense	120400			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1477T>C	11.37:g.114392857A>G	ENSP00000411690:p.Phe493Leu		B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		.	.	.	.	.	.	.	.	.	.	A	22.9	4.351641	0.82132	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.27104	1.69;1.69;1.69	4.64	3.49	0.39957	.	0.000000	0.64402	D	0.000001	T	0.53706	0.1813	M	0.89534	3.04	0.33601	D	0.602277	D	0.71674	0.998	D	0.70935	0.971	T	0.69702	-0.5074	10	0.56958	D	0.05	.	10.2768	0.43515	0.8519:0.0:0.0:0.1481	.	493	Q8N323	FA55A_HUMAN	L	209;351;493	ENSP00000445200:F209L;ENSP00000251921:F351L;ENSP00000411690:F493L	ENSP00000251921:F351L	F	-	1	0	FAM55A	113898067	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	1.386000	0.34419	0.854000	0.35336	0.528000	0.53228	TTC		0.418	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		G	114392857	A	G	114392857	3	3	48	1	0	0	0	0	1	0	0	0	5584	72	3	2	170	2	FAM55A	11	114392857	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	11302183	114392857	20613659	127	4796											
TAPBPL	55080	broad.mit.edu;mdanderson.org	37	chr12	6567817	6567817	+	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	cattctttctccagcttcccCtaaagtacgactgagcttgg	8	13	7	13	1	2	1	0	1	2	0	4	2	3	1	3	1	3	3	3	1	3	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:6567817C>T	ENST00000266556.7	+	5	1076	c.911C>T	c.(910-912)cCt>cTt	p.P304L	TAPBPL_ENST00000544021.1_Silent_p.P185P|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	304	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CCAGCTTCCCCTAAAGTACGA	0.517																																						.											0													119	111	114					12																	6567817		2203	4300	6503	SO:0001583	missense	55080			AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.911C>T	12.37:g.6567817C>T	ENSP00000266556:p.Pro304Leu		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461576	0.63513	.	.	ENSG00000139192	ENST00000266556	T	0.58358	0.34	5.05	5.05	0.67936	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78099	-0.2336	10	0.87932	D	0	-27.2797	14.2963	0.66316	0.0:1.0:0.0:0.0	.	304	Q9BX59	TPSNR_HUMAN	L	304	ENSP00000266556:P304L	ENSP00000266556:P304L	P	+	2	0	TAPBPL	6438078	0.893000	0.30496	0.994000	0.49952	0.314000	0.28054	2.808000	0.47963	2.521000	0.84997	0.650000	0.86243	CCT		0.517	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		T	6567817	C	T	6567817	3	4	48	1	0	0	0	0	1	0	0	0	15550	681	24	4	929	4	TAPBPL	12	6567817	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10		6567817	127284078	128	4797											
ATN1	1822	mdanderson.org	37	chr12	7045912	7045912	+	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	rs144280633	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:7045912G>A	ENST00000356654.4	+	5	1719	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	ATN1_ENST00000396684.2_Silent_p.Q494Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	494	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																																						.											0													39	49	46					12																	7045912		2183	4256	6439	SO:0001819	synonymous_variant	1822			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.1482G>A	12.37:g.7045912G>A			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045912	G	A	7045912	2	1	48	1	0	0	0	0	0	0	0	1	1111	962	34	4		4	ATN1	12	7045912	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	478095	7045912	126805983	129	4798											
PRB2	653247	mdanderson.org	37	chr12	11546764	11546764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtttgttgcctccttgtGggggtggtccttgtggcttt	1	17	16	7	0	0	0	0	0	0	0	2	1	2	0	3	5	1	3	3	5	0	5	rs201994479	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:11546764G>T	ENST00000389362.4	-	3	283	c.248C>A	c.(247-249)cCa>cAa	p.P83Q	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	83	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)			GCCTCCTTGTGGGGGTGGTCC	0.617													G|||	2	0.000399361	0.0015	0	5008	,	,		18324	0		0	False		,,,				2504	0					.											0													126	144	138					12																	11546764		2136	4201	6337	SO:0001583	missense	653247			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.248C>A	12.37:g.11546764G>T	ENSP00000374013:p.Pro83Gln		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	5.566	0.289209	0.10513	.	.	ENSG00000121335	ENST00000389362	T	0.05081	3.5	1.52	-3.05	0.05396	.	.	.	.	.	T	0.04182	0.0116	L	0.58810	1.83	0.24408	N	0.994672	P	0.39094	0.659	B	0.24394	0.053	T	0.28427	-1.0044	9	0.24483	T	0.36	.	3.2388	0.06773	0.1674:0.0:0.4493:0.3833	.	83	P02812	PRB2_HUMAN	Q	83	ENSP00000374013:P83Q	ENSP00000374013:P83Q	P	-	2	0	PRB2	11438031	0.077000	0.21312	0.033000	0.17914	0.073000	0.16967	-0.297000	0.08276	-1.559000	0.01688	-1.417000	0.01113	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546764	G	T	11546764	3	4	48	1	0	0	0	0	1	0	0	0	12443	1348	47	5	1006	5	PRB2	12	11546764	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	4500852	11546764	122305131	130	4799											
WBP11	51729	mdanderson.org	37	chr12	14940061	14940061	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatccttagtttgtactgAgacaggaacagaaggaccag	14	9	10	8	0	1	2	1	1	0	2	2	5	2	4	2	2	2	2	2	2	4	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:14940061A>G	ENST00000261167.2	-	12	2097	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	622					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						GTTTGTACTGAGACAGGAACA	0.468																																						.											0													61	60	60					12																	14940061		2203	4298	6501	SO:0001583	missense	51729			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.1864T>C	12.37:g.14940061A>G	ENSP00000261167:p.Ser622Pro		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.737614	0.30774	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	5.1	3.95	0.45737	.	0.357152	0.25478	N	0.030384	T	0.39545	0.1082	L	0.38838	1.175	0.32352	N	0.558285	B	0.30824	0.296	B	0.38156	0.266	T	0.51108	-0.8747	9	0.52906	T	0.07	-15.5057	6.5889	0.22636	0.8174:0.0:0.1826:0.0	.	622	Q9Y2W2	WBP11_HUMAN	P	622;588	.	ENSP00000261167:S622P	S	-	1	0	WBP11	14831328	0.999000	0.42202	0.863000	0.33907	0.986000	0.74619	2.169000	0.42434	0.971000	0.38288	-0.290000	0.09829	TCA		0.468	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		G	14940061	A	G	14940061	3	3	48	1	0	0	0	0	1	0	0	0	17255	304	11	2	65	2	WBP11	12	14940061	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3393297	14940061	118911834	131	4800											
KLHDC5	57542	mdanderson.org	37	chr12	27934040	27934040	+	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	aactacctcttcatagtgggCgggtacaggatcactagcca	11	9	10	11	1	3	0	2	0	1	0	3	1	3	1	2	3	4	1	2	3	5	5	rs538490560		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:27934040C>T	ENST00000381271.2	+	1	1088	c.777C>T	c.(775-777)ggC>ggT	p.G259G	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	259					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCATAGTGGGCGGGTACAGGA	0.582																																						.											0													71	60	63					12																	27934040		2203	4300	6503	SO:0001819	synonymous_variant	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.777C>T	12.37:g.27934040C>T			Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435082	0.25813	.	.	ENSG00000087448	ENST00000543254	.	.	.	4.73	-0.46	0.12175	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	1.426	0.02323	0.2391:0.4129:0.1105:0.2374	.	.	.	.	W	81	.	.	R	+	1	2	KLHDC5	27825307	0.030000	0.19436	0.998000	0.56505	0.995000	0.86356	-0.824000	0.04438	0.065000	0.16485	0.586000	0.80456	CGG		0.582	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		T	27934040	C	T	27934040	2	4	48	1	0	0	0	0	0	0	0	1	8359	755	27	1		1	KLHDC5	12	27934040	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	12993979	27934040	105917855	132	4801											
TMEM117	84216	mdanderson.org	37	chr12	44338122	44338122	+	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	tctcacatatacaacacgatTcttctaatggatgggaacat	14	12	6	9	1	3	0	1	0	3	0	4	3	3	2	0	2	3	0	0	2	5	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:44338122T>C	ENST00000266534.3	+	3	514	c.387T>C	c.(385-387)atT>atC	p.I129I	TMEM117_ENST00000536799.1_Missense_Mutation_p.S59P|TMEM117_ENST00000551577.1_Silent_p.I129I	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	129						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)		ACAACACGATTCTTCTAATGG	0.363																																						.											0													220	204	209					12																	44338122		2203	4300	6503	SO:0001819	synonymous_variant	84216			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.387T>C	12.37:g.44338122T>C				Silent	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583223	0.46006	.	.	ENSG00000139173	ENST00000536799	.	.	.	5.51	4.38	0.52667	.	.	.	.	.	T	0.31949	0.0813	.	.	.	0.25650	N	0.986101	B	0.02656	0.0	B	0.01281	0.0	T	0.27872	-1.0061	7	0.87932	D	0	-9.6711	6.1317	0.20209	0.0:0.2452:0.0:0.7548	.	59	F5H3Q2	.	P	59	.	ENSP00000445243:S59P	S	+	1	0	TMEM117	42624389	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	1.286000	0.33273	1.041000	0.40125	0.482000	0.46254	TCT		0.363	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		C	44338122	T	C	44338122	2	2	48	1	0	0	0	0	0	0	0	1	16028	1771	62	4		4	TMEM117	12	44338122	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	16404082	44338122	89513773	133	4802											
ENDOU	8909	mdanderson.org	37	chr12	48104619	48104619	+	Missense_Mutation	SNP	T	T	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	ctatgtaggctgtggcgatgTacttcttgccattcccatag	7	14	10	10	1	1	0	0	0	1	0	2	1	2	0	2	2	2	3	2	2	4	7			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:48104619T>C	ENST00000422538.3	-	10	1321	c.1199A>G	c.(1198-1200)tAc>tGc	p.Y400C	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Y359C|ENDOU_ENST00000545824.2_Missense_Mutation_p.Y337C|ENDOU_ENST00000542202.1_Silent_p.V118V	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	400					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TGTGGCGATGTACTTCTTGCC	0.517																																						.											0													225	186	199					12																	48104619		2203	4300	6503	SO:0001583	missense	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.1199A>G	12.37:g.48104619T>C	ENSP00000397679:p.Tyr400Cys		B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.708021	0.68615	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32988	1.43;1.45	6.06	3.53	0.40419	.	0.161948	0.56097	D	0.000033	T	0.44307	0.1287	L	0.49571	1.57	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.80764	0.987;0.959;0.994	T	0.22661	-1.0210	10	0.40728	T	0.16	-26.5326	8.6899	0.34260	0.4249:0.0:0.0:0.5751	.	337;400;359	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	C	359;400;337	ENSP00000229003:Y359C;ENSP00000397679:Y400C	ENSP00000229003:Y359C	Y	-	2	0	ENDOU	46390886	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.116000	0.31221	1.074000	0.40909	0.533000	0.62120	TAC		0.517	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		C	48104619	T	C	48104619	3	2	48	1	0	0	0	0	1	0	0	0	5116	1638	57	2	37	2	ENDOU	12	48104619	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	3766497	48104619	85747276	134	4803											
ARF3	377	broad.mit.edu	37	chr12	49332755	49332756	+	Frame_Shift_Ins	INS	-	-	C																															cttgtttttgagctgattggINSccagccagtccaggccttcg																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:49332755_49332756insC	ENST00000256682.4	-	5	854_855	c.520_521insG	c.(520-522)gccfs	p.A174fs	ARF3_ENST00000447318.2_Frame_Shift_Ins_p.A137fs|ARF3_ENST00000541959.1_Frame_Shift_Ins_p.A174fs|AC073610.5_ENST00000537495.1_Frame_Shift_Ins_p.A49fs|ARF3_ENST00000541967.1_5'Flank|RP11-302B13.5_ENST00000398092.4_Intron	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	174					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						GAGCTGATTGGCCAGCCAGTCC	0.584																																					Pancreas(189;1862 2134 4419 30933 49364)	.											0																																										SO:0001589	frameshift_variant	377			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"ADP-ribosylation factors"	654	protein-coding gene	gene with protein product	"small GTP binding protein"	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.521dupG	12.37:g.49332757_49332757dupC	ENSP00000256682:p.Ala174fs		A8K6G8|B7ZB63|P16587	Frame_Shift_Ins	INS	ENST00000256682.4	37	CCDS8774.1																																																																																				0.584	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		C	49332756	-	C	49332755	7	5	48	1	0	1	1	0	0	0	0	0	845	1203	42	0	28	0	ARF3	12	49332755	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	1228136	49332755	84519140	135	4804											
KRT80	144501	mdanderson.org	37	chr12	52574312	52574312	+	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	ctcacctgctcatagatggtTttcatcaactccacgaagct	10	12	6	13	1	4	1	4	0	0	1	5	2	5	1	2	1	3	3	2	1	3	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:52574312T>C	ENST00000394815.2	-	4	748	c.651A>G	c.(649-651)aaA>aaG	p.K217K	KRT80_ENST00000313234.5_Silent_p.K217K	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	217	Coil 1B.|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)		CATAGATGGTTTTCATCAACT	0.542																																					GBM(178;2309 2916 15678 35873)	.											0													156	159	158					12																	52574312		2203	4300	6503	SO:0001819	synonymous_variant	144501			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.651A>G	12.37:g.52574312T>C			Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	CCDS8821.2																																																																																				0.542	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		C	52574312	T	C	52574312	2	2	48	1	0	0	0	0	0	0	0	1	8494	1838	64	4		4	KRT80	12	52574312	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	3241557	52574312	81277583	136	4805											
KRT81	3887	mdanderson.org	37	chr12	52681460	52681460	+	Missense_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	gatctcctccttggtgcggcGcagggtctccccgtgcctga	3	10	13	15	3	2	1	0	1	2	0	5	2	3	1	5	3	2	1	5	3	0	1	rs4761786	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:52681460G>A	ENST00000327741.5	-	6	1014	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	316	Coil 2.|Rod.		R -> C (in dbSNP:rs4761786).			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)		TTGGTGCGGCGCAGGGTCTCC	0.592													.|||	26	0.00519169	0	0.0043	5008	,	,		19481	0		0.0209	False		,,,				2504	0.002					.											0								G	CYS/ARG	7,4399	11.4+/-27.6	0,7,2196	89	75	80		946	3.8	1	12	dbSNP_111	80	72,8520	43.1+/-100.9	1,70,4225	no	missense	KRT81	NM_002281.3	180	1,77,6421	AA,AG,GG		0.838,0.1589,0.6078	probably-damaging	316/506	52681460	79,12919	2203	4296	6499	SO:0001583	missense	3887			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.946C>T	12.37:g.52681460G>A	ENSP00000369349:p.Arg316Cys		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	CCDS31805.1	19	0.0086996336996337	0	0.0	1	0.0027624309392265192	0	0.0	18	0.023746701846965697	G	17.75	3.466900	0.63625	0.001589	0.00838	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.90197	-2.63	4.7	3.79	0.43588	Filament (1);	0.000000	0.44688	U	0.000421	D	0.92404	0.7589	M	0.91663	3.23	0.46279	D	0.998961	D	0.89917	1.0	D	0.79108	0.992	D	0.92586	0.6079	10	0.66056	D	0.02	.	13.1775	0.59635	0.0794:0.0:0.9206:0.0	rs4761786	316	Q14533	KRT81_HUMAN	C	316	ENSP00000369349:R316C	ENSP00000369349:R316C	R	-	1	0	KRT81	50967727	0.001000	0.12720	1.000000	0.80357	0.997000	0.91878	0.975000	0.29449	2.139000	0.66308	0.561000	0.74099	CGC		0.592	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		A	52681460	G	A	52681460	3	1	48	1	0	0	0	0	1	0	0	0	8495	1087	38	1	587	1	KRT81	12	52681460	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	107148	52681460	81170435	137	4806											
GRIP1	23426	mdanderson.org	37	chr12	66786508	66786508	+	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	agtctctcctgccatctgtaAcaaatggatggcttcactca	10	12	7	12	0	4	0	2	0	2	0	6	1	5	1	2	2	2	2	2	2	2	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:66786508A>G	ENST00000398016.3	-	17	2130	c.2062T>C	c.(2062-2064)Tta>Cta	p.L688L	GRIP1_ENST00000286445.7_Silent_p.L740L|GRIP1_ENST00000359742.4_Silent_p.L740L|GRIP1_ENST00000542021.1_5'Flank	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)		GCCATCTGTAACAAATGGATG	0.438																																						.											0													164	152	156					12																	66786508		1882	4113	5995	SO:0001819	synonymous_variant	23426			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.2062T>C	12.37:g.66786508A>G			B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	CCDS41807.1																																																																																				0.438	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			G	66786508	A	G	66786508	2	3	48	1	0	0	0	0	0	0	0	1	6787	40	2	2		2	GRIP1	12	66786508	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	14105048	66786508	67065387	138	4807											
THAP2	83591	ucsc.edu	37	chr12	72067994	72067994	+	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	ttttttaaggtttcctttggAtcctaaaagaagaaaagaat	15	15	7	4	0	0	3	0	0	0	3	2	4	2	4	2	2	0	1	2	2	7	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:72067994A>T	ENST00000308086.2	+	2	1584	c.83A>T	c.(82-84)gAt>gTt	p.D28V	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.D4V	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	28						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTTCCTTTGGATCCTAAAAGA	0.343																																						.											0													51	53	52					12																	72067994		2203	4300	6503	SO:0001583	missense	83591			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.83A>T	12.37:g.72067994A>T	ENSP00000310796:p.Asp28Val		B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044273	0.75732	.	.	ENSG00000173451	ENST00000308086	D	0.97161	-4.27	5.62	5.62	0.85841	Zinc finger, C2CH-type (4);	0.077148	0.50627	D	0.000112	D	0.97639	0.9226	L	0.58428	1.81	0.80722	D	1	D	0.63046	0.992	D	0.65443	0.935	D	0.98304	1.0520	10	0.87932	D	0	.	13.7768	0.63059	1.0:0.0:0.0:0.0	.	28	Q9H0W7	THAP2_HUMAN	V	28	ENSP00000310796:D28V	ENSP00000310796:D28V	D	+	2	0	THAP2	70354261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.224000	0.51238	2.151000	0.67156	0.482000	0.46254	GAT		0.343	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		T	72067994	A	T	72067994	3	4	48	1	0	0	0	0	1	0	0	0	15841	333	12	5	89	5	THAP2	12	72067994	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	5281486	72067994	61783901	139	4808											
ACSS3	79611	mdanderson.org	37	chr12	81503481	81503481	+	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	cctataaagaagttctggagCaggtaatatcataaacttta	16	12	7	6	0	2	1	1	0	1	1	2	2	2	2	1	2	2	3	1	2	9	8			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:81503481C>T	ENST00000548058.1	+	2	1364	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.Q151*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	152						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGTTCTGGAGCAGGTAATATC	0.303																																						.											0													65	66	66					12																	81503481		2202	4300	6502	SO:0001587	stop_gained	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.454C>T	12.37:g.81503481C>T	ENSP00000449535:p.Gln152*		Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	38	7.006905	0.97998	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	.	.	.	6.07	6.07	0.98685	.	0.051372	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-20.5427	19.4308	0.94765	0.0:1.0:0.0:0.0	.	.	.	.	X	44;152;151	.	ENSP00000261206:Q151X	Q	+	1	0	ACSS3	80027612	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.879000	0.48522	2.885000	0.99019	0.655000	0.94253	CAG		0.303	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		T	81503481	C	T	81503481	4	4	48	1	0	0	0	0	0	1	0	0	190	711	25	4	460	4	ACSS3	12	81503481	Nonsense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	9435487	81503481	52348414	140	4809											
PLXNC1	10154	mdanderson.org	37	chr12	94676121	94676121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttctggacatcgacagtTcctccgtgattcttgaagat	10	13	8	10	2	2	3	0	2	2	1	5	5	4	4	2	1	1	1	2	1	2	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:94676121T>C	ENST00000258526.4	+	23	4072	c.3823T>C	c.(3823-3825)Tcc>Ccc	p.S1275P	RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000545312.1_Missense_Mutation_p.S14P|RP11-1105G2.3_ENST00000551941.1_5'Flank|PLXNC1_ENST00000547057.1_Missense_Mutation_p.S322P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1275					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						CATCGACAGTTCCTCCGTGAT	0.438																																						.											0													141	131	134					12																	94676121		2203	4300	6503	SO:0001583	missense	10154			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.3823T>C	12.37:g.94676121T>C	ENSP00000258526:p.Ser1275Pro		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973270	0.74246	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11930	2.73;2.73;2.73	5.92	5.92	0.95590	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.103828	0.64402	D	0.000005	T	0.28566	0.0707	L	0.42245	1.32	0.43330	D	0.995366	D;D	0.76494	0.982;0.999	P;D	0.66847	0.584;0.947	T	0.00607	-1.1647	10	0.41790	T	0.15	.	14.9345	0.70944	0.0:0.0:0.0:1.0	.	322;1275	B4DHQ7;O60486	.;PLXC1_HUMAN	P	1275;322;14	ENSP00000258526:S1275P;ENSP00000446720:S322P;ENSP00000439225:S14P	ENSP00000258526:S1275P	S	+	1	0	PLXNC1	93200252	0.992000	0.36948	0.780000	0.31762	0.778000	0.44026	3.528000	0.53524	2.270000	0.75569	0.459000	0.35465	TCC		0.438	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			C	94676121	T	C	94676121	3	2	48	1	0	0	0	0	1	0	0	0	12126	1783	62	4	3913	4	PLXNC1	12	94676121	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	13172640	94676121	39175774	141	4810											
TMEM132B	114795	broad.mit.edu;mdanderson.org	37	chr12	126138173	126138173	+	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	gtgacacctttagacatttaCgatcctaaggattattctgt	11	15	7	8	1	1	2	0	1	1	1	2	4	2	3	2	1	1	0	2	1	4	7	rs368152539		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:126138173C>T	ENST00000299308.3	+	9	2162	c.2154C>T	c.(2152-2154)taC>taT	p.Y718Y	TMEM132B_ENST00000535886.1_Silent_p.Y230Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	718						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)		TAGACATTTACGATCCTAAGG	0.403																																						.											0								C		0,3812		0,0,1906	120	115	117		2154	-5.7	0.3	12		117	2,8228		0,2,4113	no	coding-synonymous	TMEM132B	NM_052907.2		0,2,6019	TT,TC,CC		0.0243,0.0,0.0166		718/1079	126138173	2,12040	1906	4115	6021	SO:0001819	synonymous_variant	114795			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.2154C>T	12.37:g.126138173C>T			A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.403	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126138173	C	T	126138173	2	4	48	1	0	0	0	0	0	0	0	1	16043	547	19	1		1	TMEM132B	12	126138173	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	31462052	126138173	7713722	142	4811											
TPTE2	93492	mdanderson.org	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-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	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_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_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																																						.											0													47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492			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			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	48	1	0	0	0	0	0	0	1	0	16428	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-KN-8433-01A-11D-2310-10		20056686	95113192	143	4812											
FGF9	2254	mdanderson.org	37	chr13	22275358	22275358	+	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	acccaagagtgtgtattcagAgaacagttcgaagaaaactg	16	8	10	7	1	1	3	1	0	0	3	2	5	1	3	1	0	2	2	1	0	6	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr13:22275358A>G	ENST00000382353.5	+	3	941	c.411A>G	c.(409-411)agA>agG	p.R137R	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	137					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|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 morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|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 division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GTGTATTCAGAGAACAGTTCG	0.383																																					Melanoma(195;1939 2127 12623 13963 52730)	.											0													66	60	62					13																	22275358		2203	4300	6503	SO:0001819	synonymous_variant	2254			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"Endogenous ligands"	3687	protein-coding gene	gene with protein product	"glia-activating factor"	600921	"fibroblast growth factor 9 (glia-activating factor)"			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.411A>G	13.37:g.22275358A>G			A8K427|Q3SY32	Silent	SNP	ENST00000382353.5	37	CCDS9298.1																																																																																				0.383	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			G	22275358	A	G	22275358	2	3	48	1	0	0	0	0	0	0	0	1	5859	301	11	2		2	FGF9	13	22275358	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2218672	22275358	92894520	144	4813											
PABPC3	5042	mdanderson.org	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-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	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																																						.											0													103	96	98					13																	25671967		2203	4300	6503	SO:0001583	missense	5042			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		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	48	1	0	0	0	0	1	0	0	0	11365	1000	35	5	1633	5	PABPC3	13	25671967	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	3396609	25671967	89497911	145	4814											
OR4N2	390429	mdanderson.org	37	chr14	20296208	20296208	+	Missense_Mutation	SNP	T	T	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	tggtggagcttctgatggtcTtcaacagtggcctgatgaca	8	12	13	8	0	3	3	1	3	2	0	3	4	3	4	1	4	2	1	1	4	1	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:20296208T>C	ENST00000315947.1	+	1	601	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	201						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGATGGTCTTCAACAGTGG	0.507																																						.											0													145	144	144					14																	20296208		2203	4300	6503	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.601T>C	14.37:g.20296208T>C	ENSP00000319601:p.Phe201Leu		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.246339	0.39697	.	.	ENSG00000176294	ENST00000315947	T	0.00123	8.7	4.52	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.125811	0.36703	N	0.002455	T	0.00073	0.0002	N	0.04148	-0.265	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.39820	-0.9595	10	0.66056	D	0.02	-25.8079	3.5346	0.07789	0.1948:0.1049:0.0:0.7003	.	201	Q8NGD1	OR4N2_HUMAN	L	201	ENSP00000319601:F201L	ENSP00000319601:F201L	F	+	1	0	OR4N2	19366048	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	0.181000	0.16880	2.008000	0.58898	0.477000	0.44152	TTC		0.507	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			C	20296208	T	C	20296208	3	2	48	1	0	0	0	0	1	0	0	0	11077	1609	56	2	603	2	OR4N2	14	20296208	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		20296208	87053332	146	4815											
SLC7A7	9056	mdanderson.org	37	chr14	23243680	23243680	+	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	ttaatgagctggaagatgtcTtccacgcacaagtagatcaa	14	10	9	8	1	2	3	1	1	1	2	3	4	3	4	1	1	1	3	1	1	5	3	rs139619724	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:23243680T>C	ENST00000397532.3	-	8	1653	c.1128A>G	c.(1126-1128)gaA>gaG	p.E376E	SLC7A7_ENST00000285850.7_Silent_p.E376E|SLC7A7_ENST00000397528.4_Silent_p.E376E|SLC7A7_ENST00000555702.1_Silent_p.E376E|SLC7A7_ENST00000554517.1_Silent_p.E110E|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.E376E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	376					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)		GGAAGATGTCTTCCACGCACA	0.473																																						.											0													213	201	205					14																	23243680		2203	4300	6503	SO:0001819	synonymous_variant	9056			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.1128A>G	14.37:g.23243680T>C			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	CCDS9574.1																																																																																				0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			C	23243680	T	C	23243680	2	2	48	1	0	0	0	0	0	0	0	1	14703	1606	56	2		2	SLC7A7	14	23243680	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2947472	23243680	84105860	147	4816											
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-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:23548787C>T	ENST00000262710.1	-	6	2258	c.1931G>A	c.(1930-1932)cGt>cAt	p.R644H	ACIN1_ENST00000555053.1_Missense_Mutation_p.R644H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R586H|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																																						.											1	Insertion - In frame(1)	upper_aerodigestive_tract(1)											255	224	235					14																	23548787		2203	4300	6503	SO:0001583	missense	22985			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		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	48	1	0	0	0	0	1	0	0	0	142	536	19	1	2297	1	ACIN1	14	23548787	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	305107	23548787	83800753	148	4817											
C14orf126	112487	mdanderson.org	37	chr14	31926584	31926584	+	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	cgcccgggcctgaggaatccGgctaccctcagccatggctt	6	7	12	16	3	1	1	1	1	0	0	2	2	2	2	5	4	2	2	5	4	2	2	rs17097904	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:31926584G>A	ENST00000310850.4	-	1	132	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	DTD2_ENST00000356180.4_Missense_Mutation_p.R6W|RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.R6W	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	6			R -> W (in dbSNP:rs17097904).		D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R6W(1)									TGAGGAATCCGGCTACCCTCA	0.697																																						.											1	Substitution - Missense(1)	skin(1)											12	12	12					14																	31926584		2183	4278	6461	SO:0001583	missense	112487			BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.16C>T	14.37:g.31926584G>A	ENSP00000312224:p.Arg6Trp		D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758136	0.69763	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.55052	0.54;0.71;0.71	4.84	2.97	0.34412	D-Tyr tRNAtyr deacylase-like domain (1);	0.302778	0.30901	N	0.008651	T	0.52419	0.1733	M	0.69823	2.125	0.36855	D	0.888115	D	0.67145	0.996	B	0.43623	0.425	T	0.65220	-0.6221	10	0.87932	D	0	.	11.9711	0.53063	0.0:0.0:0.5428:0.4572	rs17097904	6	Q96FN9	DTD2_HUMAN	W	6	ENSP00000447056:R6W;ENSP00000312224:R6W;ENSP00000348503:R6W	ENSP00000312224:R6W	R	-	1	2	C14orf126;RP11-176H8.1	30996335	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	0.080000	0.14802	0.618000	0.30179	0.561000	0.74099	CGG		0.697	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664		A	31926584	G	A	31926584	3	1	48	1	0	0	0	0	1	0	0	0	1743	1115	39	1	502	1	C14orf126	14	31926584	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	8377797	31926584	75422956	149	4818											
LRFN5	145581	mdanderson.org	37	chr14	42356084	42356084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgactctatccaggaatAcaataagttttattacacct	14	13	4	10	0	1	1	0	1	1	0	2	2	2	2	3	1	2	1	3	1	7	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:42356084A>G	ENST00000298119.4	+	3	1445	c.256A>G	c.(256-258)Aca>Gca	p.T86A	LRFN5_ENST00000554171.1_Missense_Mutation_p.T86A|LRFN5_ENST00000554120.1_Missense_Mutation_p.T86A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	86						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATCCAGGAATACAATAAGTTT	0.363										HNSCC(30;0.082)																												.											0													54	54	54					14																	42356084		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.256A>G	14.37:g.42356084A>G	ENSP00000298119:p.Thr86Ala		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037406	0.54896	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.91740	-2.9;-2.9;-2.9	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	D	0.87168	0.6110	N	0.03608	-0.345	0.58432	D	0.999995	B;P	0.47302	0.225;0.893	B;P	0.53689	0.169;0.732	D	0.87967	0.2734	10	0.33141	T	0.24	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	86;86	G3V364;Q96NI6	.;LRFN5_HUMAN	A	86	ENSP00000298119:T86A;ENSP00000451897:T86A;ENSP00000451067:T86A	ENSP00000298119:T86A	T	+	1	0	LRFN5	41425834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.098000	0.63641	0.528000	0.53228	ACA		0.363	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		G	42356084	A	G	42356084	3	3	48	1	0	0	0	0	1	0	0	0	8941	391	14	2	258	2	LRFN5	14	42356084	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	10429500	42356084	64993456	150	4819											
SOS2	6655	mdanderson.org	37	chr14	50597336	50597336	+	Missense_Mutation	SNP	T	T	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	cactgttgattccagctcagTttcagcaatccgactaaagc	11	11	7	12	1	2	1	2	1	0	0	4	2	4	1	2	0	3	4	2	0	3	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:50597336T>C	ENST00000216373.5	-	20	3494	c.3220A>G	c.(3220-3222)Act>Gct	p.T1074A	SOS2_ENST00000543680.1_Missense_Mutation_p.T1041A	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1074					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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCCAGCTCAGTTTCAGCAATC	0.438																																						.											0													198	170	180					14																	50597336		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3220A>G	14.37:g.50597336T>C	ENSP00000216373:p.Thr1074Ala		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749831	0.30955	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.78364	-1.17;-1.04	5.62	3.28	0.37604	.	0.205916	0.52532	N	0.000080	T	0.52141	0.1716	N	0.14661	0.345	0.36905	D	0.890584	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38735	-0.9647	10	0.12103	T	0.63	.	2.0393	0.03546	0.2436:0.3181:0.0:0.4383	.	1041;1074	B7ZKT6;Q07890	.;SOS2_HUMAN	A	1074;1041	ENSP00000216373:T1074A;ENSP00000445328:T1041A	ENSP00000216373:T1074A	T	-	1	0	SOS2	49667086	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.618000	0.36954	0.974000	0.38366	0.397000	0.26171	ACT		0.438	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			C	50597336	T	C	50597336	3	2	48	1	0	0	0	0	1	0	0	0	14937	1725	60	2	794	2	SOS2	14	50597336	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	8241252	50597336	56752204	151	4820											
PSMC6	5706	mdanderson.org	37	chr14	53178163	53178163	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggatccactggtttataAcatgtctcatgaggaccctg	9	12	11	9	0	1	1	1	1	1	0	3	3	2	3	2	4	1	1	2	4	2	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:53178163A>G	ENST00000606149.1	+	6	378	c.362A>G	c.(361-363)aAc>aGc	p.N121S	PSMC6_ENST00000445930.2_Missense_Mutation_p.N135S	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	121					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)|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)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CTGGTTTATAACATGTCTCAT	0.393																																						.											0													144	147	146					14																	53178163		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.362A>G	14.37:g.53178163A>G	ENSP00000475721:p.Asn121Ser		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37		.	.	.	.	.	.	.	.	.	.	A	18.00	3.525329	0.64747	.	.	ENSG00000100519	ENST00000445930	D	0.93604	-3.25	4.84	4.84	0.62591	.	0.270730	0.45867	D	0.000331	D	0.91432	0.7296	M	0.73962	2.25	0.80722	D	1	B;B	0.17852	0.001;0.024	B;B	0.16722	0.007;0.016	D	0.87424	0.2384	10	0.07990	T	0.79	.	14.7652	0.69634	1.0:0.0:0.0:0.0	.	121;101	P62333;B4DR91	PRS10_HUMAN;.	S	135	ENSP00000401802:N135S	ENSP00000401802:N135S	N	+	2	0	PSMC6	52247913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.847000	0.92166	1.960000	0.56953	0.529000	0.55759	AAC		0.393	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		G	53178163	A	G	53178163	3	3	48	1	0	0	0	0	1	0	0	0	12691	43	2	2	426	2	PSMC6	14	53178163	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2580827	53178163	54171377	152	4821											
DAAM1	23002	mdanderson.org	37	chr14	59830429	59830429	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtttgtgtctgttgtcAgccagttcatcacagtagcc	9	14	9	9	0	4	0	3	0	1	0	4	0	4	0	2	0	2	4	2	0	2	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:59830429A>G	ENST00000395125.1	+	23	2808	c.2785A>G	c.(2785-2787)Agc>Ggc	p.S929G	DAAM1_ENST00000351081.1_Missense_Mutation_p.S929G|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.S919G	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	929	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTCTGTTGTCAGCCAGTTCAT	0.463																																						.											0													132	119	123					14																	59830429		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2785A>G	14.37:g.59830429A>G	ENSP00000378557:p.Ser929Gly		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152407	0.78001	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.19105	2.17;2.17;2.17	5.8	5.8	0.92144	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.48986	1.54	0.80722	D	1	B;B	0.27594	0.177;0.182	B;B	0.35510	0.047;0.204	T	0.04268	-1.0964	10	0.20046	T	0.44	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	919;929	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	G	919;929;929	ENSP00000354162:S919G;ENSP00000247170:S929G;ENSP00000378557:S929G	ENSP00000247170:S929G	S	+	1	0	DAAM1	58900182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.227000	0.72691	0.460000	0.39030	AGC		0.463	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		G	59830429	A	G	59830429	3	3	48	1	0	0	0	0	1	0	0	0	4215	188	7	2	2875	2	DAAM1	14	59830429	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	6652266	59830429	47519111	153	4822											
STON2	85439	mdanderson.org	37	chr14	81744579	81744579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctggtagatgacaatgAgggaatctctttggcttttg	9	14	11	7	0	1	3	0	2	1	1	3	4	2	4	1	3	0	2	1	3	3	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:81744579A>G	ENST00000267540.2	-	4	1276	c.1076T>C	c.(1075-1077)cTc>cCc	p.L359P	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.L359P	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	359					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)		GATGACAATGAGGGAATCTCT	0.453																																						.											0													115	119	118					14																	81744579		2203	4300	6503	SO:0001583	missense	85439			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.1076T>C	14.37:g.81744579A>G	ENSP00000267540:p.Leu359Pro		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543448	0.45280	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.14640	2.49;2.49	6.17	6.17	0.99709	.	0.247806	0.36815	N	0.002383	T	0.31104	0.0786	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.76494	0.998;0.999	D;D	0.68943	0.915;0.961	T	0.01762	-1.1279	10	0.59425	D	0.04	-25.5864	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	359;359	Q8WXE9;G3V2T7	STON2_HUMAN;.	P	359;371;359	ENSP00000450857:L359P;ENSP00000267540:L359P	ENSP00000267540:L359P	L	-	2	0	STON2	80814332	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.298000	0.65710	2.371000	0.80710	0.533000	0.62120	CTC		0.453	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		G	81744579	A	G	81744579	3	3	48	1	0	0	0	0	1	0	0	0	15317	304	11	2	1647	2	STON2	14	81744579	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	21914150	81744579	25604961	154	4823											
TRIP11	9321	mdanderson.org	37	chr14	92470021	92470021	+	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	aaaagttcgttttcatttacTttgttagtgaaattttcatt	11	21	5	4	1	2	1	2	1	0	0	3	1	2	1	0	0	1	3	0	0	5	10			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:92470021T>C	ENST00000267622.4	-	11	4672	c.4299A>G	c.(4297-4299)aaA>aaG	p.K1433K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1433					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTCATTTACTTTGTTAGTGA	0.323			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													101	99	99					14																	92470021		2202	4298	6500	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4299A>G	14.37:g.92470021T>C			B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	2.653	-0.281497	0.05642	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.39	-1.36	0.09085	.	.	.	.	.	T	0.58278	0.2111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53697	-0.8402	4	.	.	.	.	11.8569	0.52441	0.0:0.1665:0.0:0.8335	.	.	.	.	G	1149	.	.	S	-	1	0	TRIP11	91539774	0.994000	0.37717	0.056000	0.19401	0.516000	0.34256	0.221000	0.17680	-0.510000	0.06523	0.379000	0.24179	AGT		0.323	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			C	92470021	T	C	92470021	2	2	48	1	0	0	0	0	0	0	0	1	16552	1606	56	2		2	TRIP11	14	92470021	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	10725442	92470021	14879519	155	4824											
KIAA1409	57578	mdanderson.org	37	chr14	94160698	94160698	+	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	cagatggtagaaatggtgtgTctccatgtgattagtttaat	11	15	11	4	0	1	3	0	1	1	2	2	3	1	3	1	2	0	2	1	2	4	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:94160698T>C	ENST00000393151.2	+	48	7605	c.7605T>C	c.(7603-7605)tgT>tgC	p.C2535C	UNC79_ENST00000555664.1_Silent_p.C2496C|UNC79_ENST00000256339.4_Silent_p.C2358C|UNC79_ENST00000553484.1_Silent_p.C2557C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2535					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						AAATGGTGTGTCTCCATGTGA	0.373																																						.											0													179	167	171					14																	94160698		2203	4300	6503	SO:0001819	synonymous_variant	57578			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.7605T>C	14.37:g.94160698T>C			B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.373	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94160698	T	C	94160698	2	2	48	1	0	0	0	0	0	0	0	1	8230	1673	58	2		2	KIAA1409	14	94160698	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1690677	94160698	13188842	156	4825											
DICER1	23405	mdanderson.org	37	chr14	95557673	95557673	+	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	ggaacttcaatatcctcttcTttctcttcatcctcctcaga	8	16	3	14	0	6	1	3	0	3	1	10	2	9	2	3	1	1	0	3	1	3	5	rs201134588		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:95557673T>C	ENST00000526495.1	-	27	5685	c.5394A>G	c.(5392-5394)aaA>aaG	p.K1798K	DICER1_ENST00000556045.1_Silent_p.K696K|DICER1_ENST00000343455.3_Silent_p.K1798K|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527414.1_Silent_p.K1798K|DICER1_ENST00000393063.1_Silent_p.K1798K|DICER1_ENST00000527416.2_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1798	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				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)		TATCCTCTTCTTTCTCTTCAT	0.448			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													.	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													188	194	192					14																	95557673		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	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.5394A>G	14.37:g.95557673T>C			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.448	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			C	95557673	T	C	95557673	2	2	48	1	0	0	0	0	0	0	0	1	4521	1606	56	2		2	DICER1	14	95557673	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1396975	95557673	11791867	157	4826											
PPP2R5C	5527	mdanderson.org	37	chr14	102252425	102252425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaaataaaagtaccagTctctcagcccatagtgaaga	16	9	7	9	0	2	2	1	1	1	1	3	2	2	2	2	0	3	2	2	0	7	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:102252425T>C	ENST00000328724.5	+	3	173	c.164T>C	c.(163-165)gTc>gCc	p.V55A	PPP2R5C_ENST00000556068.1_3'UTR|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000554442.1_Missense_Mutation_p.V55A	NM_001161726.1	NP_001155198.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	0					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AAAGTACCAGTCTCTCAGCCC	0.363																																						.											0													38	33	34					14																	102252425		1558	3569	5127	SO:0001583	missense	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000328724.5:c.164T>C	14.37:g.102252425T>C	ENSP00000329009:p.Val55Ala		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000328724.5	37	CCDS53911.1	.	.	.	.	.	.	.	.	.	.	T	7.738	0.700743	0.15172	.	.	ENSG00000078304	ENST00000554442;ENST00000328724	T	0.40476	1.03	5.25	-6.75	0.01738	.	2.481240	0.01619	N	0.022907	T	0.25754	0.0627	.	.	.	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.001;0.002	T	0.47484	-0.9114	9	0.06891	T	0.86	7.2615	20.3963	0.98984	0.0:0.8656:0.0:0.1344	.	55;55	Q6ZN33;G3V292	.;.	A	55	ENSP00000329009:V55A	ENSP00000329009:V55A	V	+	2	0	PPP2R5C	101322178	0.000000	0.05858	0.000000	0.03702	0.870000	0.49936	-0.663000	0.05299	-1.772000	0.01292	0.459000	0.35465	GTC		0.363	PPP2R5C-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414362.1	NM_002719		C	102252425	T	C	102252425	3	2	48	1	0	0	0	0	1	0	0	0	12394	1667	58	2	174	2	PPP2R5C	14	102252425	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	6694752	102252425	5097115	158	4827											
TECPR2	9895	mdanderson.org;bcgsc.ca	37	chr14	102910140	102910140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttctgtccggaaggcgAgcagtggaagtgtgacattg	9	9	15	8	2	1	1	0	1	1	0	2	4	2	3	1	3	2	2	1	3	2	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:102910140A>G	ENST00000359520.7	+	12	3135	c.2909A>G	c.(2908-2910)gAg>gGg	p.E970G	TECPR2_ENST00000558678.1_Missense_Mutation_p.E970G	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	970					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						CCGGAAGGCGAGCAGTGGAAG	0.592																																						.											0													77	65	69					14																	102910140		2203	4300	6503	SO:0001583	missense	9895			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.2909A>G	14.37:g.102910140A>G	ENSP00000352510:p.Glu970Gly		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289755	0.95546	.	.	ENSG00000196663	ENST00000359520	T	0.80304	-1.36	5.61	5.61	0.85477	.	0.106561	0.64402	D	0.000007	D	0.82926	0.5143	N	0.19112	0.55	0.58432	D	0.999995	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.962;0.994;0.995	D	0.85590	0.1245	10	0.66056	D	0.02	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	153;970;970	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	G	970	ENSP00000352510:E970G	ENSP00000352510:E970G	E	+	2	0	TECPR2	101979893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.287000	0.95975	2.254000	0.74563	0.533000	0.62120	GAG		0.592	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		G	102910140	A	G	102910140	3	3	48	1	0	0	0	0	1	0	0	0	15741	304	11	2	2951	2	TECPR2	14	102910140	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	657715	102910140	4439400	159	4828											
AHNAK2	113146	mdanderson.org	37	chr14	105418149	105418149	+	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	aggtcagcggaagggggctgAatgctgaggtcagtggtctt	8	9	18	6	1	3	2	2	2	1	0	3	3	3	3	0	6	2	2	0	6	2	1	rs147978925	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:105418149A>T	ENST00000333244.5	-	7	3758	c.3639T>A	c.(3637-3639)atT>atA	p.I1213I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1213						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)			AAGGGGGCTGAATGCTGAGGT	0.647													.|||	1170	0.233626	0.0696	0.2882	5008	,	,		15080	0.0635		0.4583	False		,,,				2504	0.3609					.											0													99	72	81					14																	105418149		1918	3766	5684	SO:0001819	synonymous_variant	113146			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.3639T>A	14.37:g.105418149A>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105418149	A	T	105418149	2	4	48	1	0	0	0	0	0	0	0	1	415	242	9	5		5	AHNAK2	14	105418149	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2508009	105418149	1931391	160	4829											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32908429	32908430	+	Frame_Shift_Ins	INS	-	-	G																															ggaatgtgggatcagaggctINSggtgaggttggccctgttgc																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:32908429_32908430insG	ENST00000361627.3	+	1	739_740	c.17_18insG	c.(16-21)ctggtgfs	p.V7fs	ARHGAP11A_ENST00000565905.1_Intron|ARHGAP11A_ENST00000563864.1_Frame_Shift_Ins_p.V7fs|ARHGAP11A_ENST00000567348.1_Frame_Shift_Ins_p.V7fs|RP11-1000B6.5_ENST00000500941.2_lincRNA|ARHGAP11A_ENST00000563330.1_3'UTR|AC123768.4_ENST00000576873.1_lincRNA|ARHGAP11A_ENST00000543522.1_Intron	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	7					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(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)		GATCAGAGGCTGGTGAGGTTGG	0.554																																					Colon(45;757 1134 30003 36652)	.											0																																										SO:0001589	frameshift_variant	9824			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.19dupG	15.37:g.32908431_32908431dupG	ENSP00000355090:p.Val7fs		B4DZN9|Q6PI96|Q9Y3S6	Frame_Shift_Ins	INS	ENST00000361627.3	37	CCDS10028.1																																																																																				0.554	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		G	32908430	-	G	32908429	7	5	48	1	0	1	1	0	0	0	0	0	863	1580	55	0	19	0	ARHGAP11A	15	32908429	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10		32908429	69622963	161	4830											
CASC5	57082	mdanderson.org	37	chr15	40913801	40913801	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgtctctcaaatatgAgagaggagaaaaatttgcta	17	10	8	6	0	2	3	1	1	1	2	3	5	2	3	1	1	1	1	1	1	6	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:40913801A>G	ENST00000346991.5	+	11	1807	c.1417A>G	c.(1417-1419)Aga>Gga	p.R473G	CASC5_ENST00000399668.2_Missense_Mutation_p.R447G|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	473	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)		CTCAAATATGAGAGAGGAGAA	0.328																																						.											0													67	65	65					15																	40913801		1822	4080	5902	SO:0001583	missense	57082			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.1417A>G	15.37:g.40913801A>G	ENSP00000335463:p.Arg473Gly		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796563	0.31777	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05139	3.49;3.49	5.94	2.3	0.28687	.	1.023320	0.07757	N	0.949536	T	0.06096	0.0158	L	0.35723	1.085	0.09310	N	1	B;B;B	0.15473	0.004;0.004;0.013	B;B;B	0.09377	0.004;0.004;0.004	T	0.41034	-0.9531	10	0.40728	T	0.16	.	5.4785	0.16710	0.5262:0.2673:0.2064:0.0	.	447;473;447	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	473;447;447	ENSP00000335463:R473G;ENSP00000382576:R447G	ENSP00000260369:R447G	R	+	1	2	CASC5	38701093	0.001000	0.12720	0.969000	0.41365	0.966000	0.64601	0.013000	0.13310	0.490000	0.27771	0.455000	0.32223	AGA		0.328	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40913801	A	G	40913801	3	3	48	1	0	0	0	0	1	0	0	0	2663	296	11	2	1455	2	CASC5	15	40913801	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8005372	40913801	61617591	162	4831											
CKMT1B	1159	broad.mit.edu	37	chr15	43890418	43890419	+	Frame_Shift_Ins	INS	-	-	G																															acttatccaagaacgtggctINSgggagttcatgtggaatgag																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:43890418_43890419insG	ENST00000441322.1	+	7	1264_1265	c.904_905insG	c.(904-906)tggfs	p.W302fs	CKMT1B_ENST00000300283.6_Frame_Shift_Ins_p.W302fs			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	302	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)	AGAACGTGGCTGGGAGTTCATG	0.49																																						.											0																																										SO:0001589	frameshift_variant	1159			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.907dupG	15.37:g.43890421_43890421dupG	ENSP00000413255:p.Trp302fs		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Frame_Shift_Ins	INS	ENST00000441322.1	37	CCDS10097.1																																																																																				0.49	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		G	43890419	-	G	43890418	7	5	48	1	0	1	1	0	0	0	0	0	3450	1580	55	0	930	0	CKMT1B	15	43890418	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	2976617	43890418	58640974	163	4832											
CATSPER2	117155	mdanderson.org	37	chr15	43928380	43928380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataccaatgatccaaggtgaAgagaatgaacactgttacca	17	8	8	8	0	0	4	0	3	0	1	1	5	1	4	3	1	3	1	3	1	7	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:43928380A>G	ENST00000321596.5	-	8	1079	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Missense_Mutation_p.F294L|CATSPER2_ENST00000354127.4_Missense_Mutation_p.F294L|CATSPER2_ENST00000381761.1_Missense_Mutation_p.F300L|CATSPER2_ENST00000396879.1_Missense_Mutation_p.F294L|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	294					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCCAAGGTGAAGAGAATGAAC	0.443																																						.											0													39	41	40					15																	43928380		2199	4292	6491	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.880T>C	15.37:g.43928380A>G	ENSP00000321463:p.Phe294Leu		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089780	0.76756	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65	4.81	4.81	0.61882	Ion transport (1);	0.192500	0.36519	N	0.002541	D	0.96494	0.8856	N	0.25286	0.73	0.41527	D	0.98843	D;D	0.54397	0.957;0.966	P;P	0.62560	0.845;0.904	D	0.95517	0.8591	10	0.36615	T	0.2	.	10.6643	0.45721	1.0:0.0:0.0:0.0	.	300;294	F8W9H2;Q96P56	.;CTSR2_HUMAN	L	294;294;300;294;294;294	ENSP00000380088:F294L;ENSP00000371180:F300L;ENSP00000321463:F294L;ENSP00000339137:F294L;ENSP00000347613:F294L	ENSP00000299989:F294L	F	-	1	0	CATSPER2	41715672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.345000	0.65987	2.013000	0.59113	0.533000	0.62120	TTC		0.443	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		G	43928380	A	G	43928380	3	3	48	1	0	0	0	0	1	0	0	0	2688	72	3	2	736	2	CATSPER2	15	43928380	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	37962	43928380	58603012	164	4833											
SLC12A1	6557	bcgsc.ca	37	chr15	48512846	48512846	+	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	tgcagaatgtggcagtcaccCcaagttcagctgacagagtt	11	9	11	10	0	2	3	2	1	0	2	2	3	2	3	2	1	2	5	2	1	2	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:48512846C>A	ENST00000558405.1	+	2	450	c.436C>A	c.(436-438)Cca>Aca	p.P146T	SLC12A1_ENST00000561031.1_Missense_Mutation_p.P146T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P146T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.P146T|SLC12A1_ENST00000330289.6_Missense_Mutation_p.P146T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	146					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGCAGTCACCCCAAGTTCAGC	0.398																																						.											0													100	90	93					15																	48512846		2198	4297	6495	SO:0001583	missense	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.436C>A	15.37:g.48512846C>A	ENSP00000453409:p.Pro146Thr		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	5.880	0.346511	0.11126	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.96522	-4.04;-4.04;-4.04	6.17	6.17	0.99709	Amino acid permease, N-terminal (1);	0.322058	0.37809	N	0.001923	D	0.92335	0.7568	L	0.36672	1.1	0.23657	N	0.997188	B;B	0.17038	0.02;0.001	B;B	0.17433	0.018;0.004	T	0.79902	-0.1607	10	0.21014	T	0.42	.	10.289	0.43584	0.1452:0.7849:0.0:0.07	.	146;146	Q8IUN5;Q13621	.;S12A1_HUMAN	T	146	ENSP00000370381:P146T;ENSP00000379822:P146T;ENSP00000331550:P146T	ENSP00000331550:P146T	P	+	1	0	SLC12A1	46300138	0.894000	0.30519	0.292000	0.24919	0.238000	0.25445	2.190000	0.42630	2.941000	0.99782	0.655000	0.94253	CCA		0.398	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			A	48512846	C	A	48512846	3	1	48	1	0	0	0	0	1	0	0	0	14382	623	22	5	442	5	SLC12A1	15	48512846	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	4584466	48512846	54018546	165	4834											
LACTB	114294	mdanderson.org	37	chr15	63419154	63419154	+	Missense_Mutation	SNP	T	T	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	aagtctcaccatggttgctcTtgccaaattgtgggaagcag	10	11	11	9	0	2	0	1	0	2	0	3	1	2	1	2	2	3	3	2	2	3	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:63419154T>C	ENST00000261893.4	+	3	593	c.521T>C	c.(520-522)cTt>cCt	p.L174P	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000413507.2_Missense_Mutation_p.L174P	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	174						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						ATGGTTGCTCTTGCCAAATTG	0.413																																					Melanoma(85;443 1381 6215 27308 35583)	.											0													115	99	104					15																	63419154		2203	4300	6503	SO:0001583	missense	114294			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.521T>C	15.37:g.63419154T>C	ENSP00000261893:p.Leu174Pro		P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496750	0.64186	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	T;T	0.52526	0.66;0.66	5.58	5.58	0.84498	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.425264	0.26828	N	0.022291	T	0.67739	0.2925	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	T	0.71932	-0.4443	10	0.87932	D	0	-4.3201	14.9367	0.70960	0.0:0.0:0.0:1.0	.	174	P83111	LACTB_HUMAN	P	174	ENSP00000261893:L174P;ENSP00000392956:L174P	ENSP00000261893:L174P	L	+	2	0	LACTB	61206207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.845000	0.62853	2.126000	0.65437	0.460000	0.39030	CTT		0.413	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63419154	T	C	63419154	3	2	48	1	0	0	0	0	1	0	0	0	8597	1609	56	2	531	2	LACTB	15	63419154	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	14906308	63419154	39112238	166	4835											
HERC1	8925	broad.mit.edu	37	chr15	64017642	64017643	+	Frame_Shift_Ins	INS	-	-	A																															caattgttctttctagatccINSacaagccatacccaggactg																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:64017642_64017643insA	ENST00000443617.2	-	18	3503_3504	c.3416_3417insT	c.(3415-3417)gtgfs	p.V1139fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1139					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						TTTCTAGATCCACAAGCCATAC	0.485																																						.											0																																										SO:0001589	frameshift_variant	8925			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.3417dupT	15.37:g.64017643_64017643dupA	ENSP00000390158:p.Val1139fs		Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	CCDS45277.1																																																																																				0.485	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	64017643	-	A	64017642	7	5	48	1	0	1	1	0	0	0	0	0	7057	581	21	0	11412	0	HERC1	15	64017642	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	598488	64017642	38513750	167	4836											
BBS4	585	mdanderson.org	37	chr15	73009145	73009145	+	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	tttgggaaaacataaagctgCcattgaagtatataatgaag	17	11	9	4	0	0	2	0	2	0	0	0	3	0	3	1	1	3	2	1	1	9	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:73009145C>T	ENST00000268057.4	+	6	400	c.359C>T	c.(358-360)gCc>gTc	p.A120V	BBS4_ENST00000539603.1_Missense_Mutation_p.A108V|BBS4_ENST00000395205.2_Missense_Mutation_p.A128V|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	120	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CATAAAGCTGCCATTGAAGTA	0.313									Bardet-Biedl syndrome																													.											0													30	32	31					15																	73009145		2195	4295	6490	SO:0001583	missense	585	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.359C>T	15.37:g.73009145C>T	ENSP00000268057:p.Ala120Val		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137580	0.94517	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	D;D;D	0.89343	-2.5;-2.5;-2.5	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.993;0.998	D	0.94821	0.7987	10	0.87932	D	0	-9.8994	17.4905	0.87702	0.0:1.0:0.0:0.0	.	108;128;120	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	V	120;108;128	ENSP00000268057:A120V;ENSP00000442492:A108V;ENSP00000378631:A128V	ENSP00000268057:A120V	A	+	2	0	BBS4	70796198	1.000000	0.71417	0.968000	0.41197	0.961000	0.63080	7.040000	0.76551	2.420000	0.82092	0.591000	0.81541	GCC		0.313	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		T	73009145	C	T	73009145	3	4	48	1	0	0	0	0	1	0	0	0	1339	739	26	3	381	3	BBS4	15	73009145	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	8991503	73009145	29522247	168	4837											
ST20	400410	mdanderson.org	37	chr15	80191332	80191332	+	Missense_Mutation	SNP	T	T	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	agtcagaaaaattaggccggTttcacaatatggagtgtcct	13	11	10	7	1	2	1	2	0	0	1	3	2	3	2	2	3	0	1	2	3	5	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:80191332T>C	ENST00000478497.1	-	3	860	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	MTHFS_ENST00000258874.3_5'Flank|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Missense_Mutation_p.T61A|ST20-MTHFS_ENST00000494999.1_Intron|MTHFS_ENST00000559722.1_5'Flank|ST20_ENST00000562759.1_Missense_Mutation_p.T61A	NM_001100879.1	NP_001094349.1	Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20	61					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATTAGGCCGGTTTCACAATAT	0.383																																						.											0													117	116	116					15																	80191332		2202	4300	6502	SO:0001583	missense	400410			AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000478497.1:c.181A>G	15.37:g.80191332T>C	ENSP00000453502:p.Thr61Ala			Missense_Mutation	SNP	ENST00000478497.1	37	CCDS42067.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.997085	0.35226	.	.	ENSG00000180953	ENST00000322484;ENST00000417278	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1	P	0.35714	0.517	B	0.27500	0.08	T	0.16335	-1.0406	7	0.87932	D	0	.	6.0481	0.19772	0.0:0.0:0.0:1.0	.	61	Q9HBF5	ST20_HUMAN	A	61	.	ENSP00000319125:T61A	T	-	1	0	ST20	77978387	0.726000	0.28059	0.068000	0.19968	0.711000	0.40976	1.510000	0.35790	0.966000	0.38159	0.172000	0.16884	ACC		0.383	ST20-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416728.2			C	80191332	T	C	80191332	3	2	48	1	0	0	0	0	1	0	0	0	15212	1725	60	2	62	2	ST20	15	80191332	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	7182187	80191332	22340060	169	4838											
CHSY1	22856	mdanderson.org	37	chr15	101717680	101717680	+	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	cacatctcagccagctgctgGgtggacccataggtcgatgc	8	8	12	13	1	1	0	1	0	1	0	3	2	1	1	2	3	4	2	2	3	1	1	rs8024370	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:101717680G>T	ENST00000254190.3	-	3	2797	c.2322C>A	c.(2320-2322)acC>acA	p.T774T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	774					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	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(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAGCTGCTGGGTGGACCCAT	0.478													T|||	3805	0.759784	0.8994	0.6412	5008	,	,		18386	0.8958		0.5557	False		,,,				2504	0.7249					.											0								T		3803,603	262.2+/-264.8	1657,489,57	87	81	83		2322	-9.2	0.7	15	dbSNP_116	83	4843,3757	534.2+/-382.6	1356,2131,813	no	coding-synonymous	CHSY1	NM_014918.4		3013,2620,870	TT,TG,GG		43.686,13.6859,33.523		774/803	101717680	8646,4360	2203	4300	6503	SO:0001819	synonymous_variant	22856			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2322C>A	15.37:g.101717680G>T			Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	CCDS10390.1																																																																																				0.478	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		T	101717680	G	T	101717680	2	4	48	1	0	0	0	0	0	0	0	1	3412	1219	43	5		5	CHSY1	15	101717680	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	21526348	101717680	813712	170	4839											
VPS35	55737	mdanderson.org	37	chr16	46702912	46702912	+	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	ccaaaggtggcagtgtgaagCgaatccgctgatttccacca	11	8	11	11	2	0	2	0	2	0	0	2	3	2	2	4	2	1	2	4	2	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:46702912C>T	ENST00000299138.7	-	13	1635	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	526				R -> G (in Ref. 5; BAA91790). {ECO:0000305}.	cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGTGTGAAGCGAATCCGCTG	0.363																																						.											0													89	98	95					16																	46702912		2203	4300	6503	SO:0001583	missense	55737			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1577G>A	16.37:g.46702912C>T	ENSP00000299138:p.Arg526His		Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	35	5.579135	0.96565	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.45668	0.89	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.83603	2.65	0.80722	D	1	D;D	0.63046	0.987;0.992	P;P	0.50490	0.642;0.476	T	0.63681	-0.6582	10	0.44086	T	0.13	-10.298	19.5023	0.95100	0.0:1.0:0.0:0.0	.	526;391	Q96QK1;F5GYF5	VPS35_HUMAN;.	H	526;391	ENSP00000299138:R526H	ENSP00000299138:R526H	R	-	2	0	VPS35	45260413	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.786000	0.85741	2.605000	0.88082	0.591000	0.81541	CGC		0.363	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			T	46702912	C	T	46702912	3	4	48	1	0	0	0	0	1	0	0	0	17200	768	27	1	833	1	VPS35	16	46702912	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10		46702912	43651841	171	4840											
SETD6	79918	mdanderson.org	37	chr16	58549932	58549932	+	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	gcgtgcaggccggagagctgTtgttcgtggtgccgcgggcc	3	8	19	11	5	0	1	0	0	0	1	1	2	0	1	3	4	3	4	3	4	0	2	rs4784046	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:58549932T>C	ENST00000219315.4	+	2	315	c.265T>C	c.(265-267)Ttg>Ctg	p.L89L	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000394266.4_Silent_p.L65L|SETD6_ENST00000310682.2_Silent_p.L65L			Q8TBK2	SETD6_HUMAN	SET domain containing 6	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						CGGAGAGCTGTTGTTCGTGGT	0.746													C|||	3856	0.769968	0.8041	0.7104	5008	,	,		7610	0.9544		0.5626	False		,,,				2504	0.7894					.											0								C	,	3001,969		1210,581,194	4	6	5		265,193	5.3	1	16	dbSNP_111	5	4379,3507		1344,1691,908	no	coding-synonymous,coding-synonymous	SETD6	NM_001160305.1,NM_024860.2	,	2554,2272,1102	CC,CT,TT		44.4712,24.4081,37.753	,	89/474,65/450	58549932	7380,4476	1985	3943	5928	SO:0001819	synonymous_variant	79918			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.265T>C	16.37:g.58549932T>C			A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	CCDS54013.1																																																																																				0.746	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		C	58549932	T	C	58549932	2	2	48	1	0	0	0	0	0	0	0	1	14135	1722	60	2		2	SETD6	16	58549932	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	11847020	58549932	31804821	172	4841											
LCAT	3931	mdanderson.org	37	chr16	67974190	67974190	+	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	ctgcagccacatgtaccagcCttcctcaaagtgcaggtctg	9	9	9	14	0	2	0	1	0	1	0	3	0	3	0	4	1	5	3	4	1	2	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:67974190C>T	ENST00000264005.5	-	6	969	c.940G>A	c.(940-942)Ggc>Agc	p.G314S		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	314					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ATGTACCAGCCTTCCTCAAAG	0.587																																						.											0													104	90	95					16																	67974190		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.940G>A	16.37:g.67974190C>T	ENSP00000264005:p.Gly314Ser		Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408259	0.96051	.	.	ENSG00000213398	ENST00000264005	D	0.95788	-3.81	5.88	5.88	0.94601	.	0.000000	0.64402	U	0.000001	D	0.98570	0.9522	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	-25.9727	17.7309	0.88377	0.0:1.0:0.0:0.0	.	314	P04180	LCAT_HUMAN	S	314	ENSP00000264005:G314S	ENSP00000264005:G314S	G	-	1	0	LCAT	66531691	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.823000	0.62694	2.788000	0.95919	0.555000	0.69702	GGC		0.587	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			T	67974190	C	T	67974190	3	4	48	1	0	0	0	0	1	0	0	0	8658	681	24	4	386	4	LCAT	16	67974190	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	9424258	67974190	22380563	173	4842											
ATMIN	23300	broad.mit.edu	37	chr16	81078086	81078087	+	Frame_Shift_Ins	INS	-	-	G																															aacttagcaccatgaccaccINSgagccagtcttggagtcact																								rs140077063		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:81078086_81078087insG	ENST00000299575.4	+	4	2007_2008	c.1983_1984insG	c.(1984-1986)gagfs	p.E662fs	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Ins_p.E506fs|ATMIN_ENST00000566488.1_Frame_Shift_Ins_p.E506fs	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	662					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCATGACCACCGAGCCAGTCTT	0.47																																						.											0																																										SO:0001589	frameshift_variant	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1984dupG	16.37:g.81078087_81078087dupG	ENSP00000299575:p.Glu662fs		A8K4H8|Q68DC9	Frame_Shift_Ins	INS	ENST00000299575.4	37	CCDS32494.1																																																																																				0.47	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		G	81078087	-	G	81078086	7	5	48	1	0	1	1	0	0	0	0	0	1110	639	23	0	1997	0	ATMIN	16	81078086	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	13103896	81078086	9276667	174	4843											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	3917706	3917706	+	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	tgtgtcggtcttgctggaagTcactgctgctggacatggct	5	13	14	9	1	2	0	1	0	1	0	3	2	2	2	0	4	3	4	0	4	1	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:3917706T>A	ENST00000381638.2	-	50	8373	c.8249A>T	c.(8248-8250)gAc>gTc	p.D2750V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2750							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						TTGCTGGAAGTCACTGCTGCT	0.473																																						.											0													148	131	137					17																	3917706		2203	4300	6503	SO:0001583	missense	23140			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.8249A>T	17.37:g.3917706T>A	ENSP00000371051:p.Asp2750Val		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617960	0.87359	.	.	ENSG00000074755	ENST00000381638	T	0.23950	1.88	5.17	5.17	0.71159	.	0.099894	0.64402	D	0.000002	T	0.40909	0.1136	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31138	-0.9954	10	0.72032	D	0.01	-20.0268	15.1875	0.73016	0.0:0.0:0.0:1.0	.	2750	O43149	ZZEF1_HUMAN	V	2750	ENSP00000371051:D2750V	ENSP00000371051:D2750V	D	-	2	0	ZZEF1	3864455	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.504000	0.81646	2.183000	0.69458	0.533000	0.62120	GAC		0.473	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	3917706	T	A	3917706	3	1	48	1	0	0	0	0	1	0	0	0	18252	1667	58	5	660	5	ZZEF1	17	3917706	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		3917706	77277504	175	4844											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7579699	7579699	+	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	cagcccaacccttgtccttaCcagaacgttgttttcaggaa	10	11	7	13	1	1	1	1	0	0	1	2	2	2	2	4	1	4	2	4	1	4	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)	CTTGTCCTTACCAGAACGTTG	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)											41	42	42					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	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;	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.96+1G>T	17.37:g.7579699C>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297523	0.81025	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7579699	C	A	7579699	5	1	48	1	0	0	0	0	0	0	1	0	16378	521	18	5	1209	5	TP53	17	7579699	Splice_Site	SNP	C	TCGA-KN-8433-01A-11D-2310-10	3661993	7579699	73615511	176	4845											
TBC1D26	353149	mdanderson.org	37	chr17	15642054	15642054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcatgaaggagaagggcaAgaggtcctccagaatcatcc	13	6	13	9	0	2	4	2	1	0	3	5	5	5	4	3	4	0	1	3	4	4	0			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:15642054A>G	ENST00000437605.2	+	8	657	c.407A>G	c.(406-408)aAg>aGg	p.K136R	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.K136R|AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	136	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						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)		GAGAAGGGCAAGAGGTCCTCC	0.522																																						.											0													118	116	117					17																	15642054		2201	4295	6496	SO:0001583	missense	353149				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.407A>G	17.37:g.15642054A>G	ENSP00000410111:p.Lys136Arg		A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	a	0.124	-1.122408	0.01785	.	.	ENSG00000214946	ENST00000437605	T	0.33216	1.42	1.44	-1.49	0.08718	Rab-GAP/TBC domain (4);	0.556946	0.16549	N	0.209565	T	0.33265	0.0857	L	0.46614	1.455	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	T	0.35525	-0.9785	10	0.07030	T	0.85	.	4.0277	0.09695	0.5255:0.0:0.4745:0.0	.	136;136	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	R	136	ENSP00000410111:K136R	ENSP00000410111:K136R	K	+	2	0	TBC1D26	15582779	0.056000	0.20664	0.002000	0.10522	0.010000	0.07245	0.671000	0.25172	-0.101000	0.12219	-0.526000	0.04340	AAG		0.522	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		G	15642054	A	G	15642054	3	3	48	1	0	0	0	0	1	0	0	0	15613	72	3	2	429	2	TBC1D26	17	15642054	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8062355	15642054	65553156	177	4846											
CCDC144NL	339184	mdanderson.org	37	chr17	20769996	20769996	+	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	ggcgactcctccttctcctcCttcagcctggcttggagcag	4	11	10	16	1	2	0	1	0	1	0	6	2	5	1	5	3	2	2	5	3	0	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:20769996C>A	ENST00000327925.5	-	3	555	c.436G>T	c.(436-438)Gga>Tga	p.G146*	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|CCDC144NL_ENST00000539484.1_5'UTR|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	146										large_intestine(3)|lung(3)|skin(1)	7						ccttctcctccttcagcctgg	0.572																																						.											0													43	29	34					17																	20769996		2112	4035	6147	SO:0001587	stop_gained	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.436G>T	17.37:g.20769996C>A	ENSP00000328054:p.Gly146*			Nonsense_Mutation	SNP	ENST00000327925.5	37	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	c	9.837	1.189859	0.21954	.	.	ENSG00000205212	ENST00000327925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	.	.	.	.	.	.	.	X	146	.	ENSP00000328054:G146X	G	-	1	0	CCDC144NL	20710588	0.077000	0.21312	0.046000	0.18839	0.046000	0.14306	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	GGA		0.572	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		A	20769996	C	A	20769996	4	1	48	1	0	0	0	0	0	1	0	0	2779	690	24	5	237	5	CCDC144NL	17	20769996	Nonsense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	5127942	20769996	60425214	178	4847											
KRTAP4-8	728224	mdanderson.org	37	chr17	39254124	39254124	+	Silent	SNP	C	C	G																															tggggcttgcagcagctggaCacacagcagctggggcgaca																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:39254124C>G	ENST00000333822.4	-	1	269	c.213G>C	c.(211-213)gtG>gtC	p.V71V		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	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						AGCAGCTGGACACACAGCAGC	0.667																																						.											0													5	8	7					17																	39254124		620	1442	2062	SO:0001819	synonymous_variant	728224			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.213G>C	17.37:g.39254124C>G			A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																				0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		G	39254124	C	G	39254124	2	3	48	1	0	0	0	0	0	0	0	1	8556	465	17	5		5	KRTAP4-8	17	39254124	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	18484128	39254124	41941086	179	4848	118	2									
KRTAP4-8	728224	mdanderson.org	37	chr17	39254127	39254127	+	Silent	SNP	A	A	G																															ggcttgcagcagctggacacAcagcagctggggcgacagca																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:39254127A>G	ENST00000333822.4	-	1	266	c.210T>C	c.(208-210)tgT>tgC	p.C70C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	70	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						AGCTGGACACACAGCAGCTGG	0.667																																						.											0													5	8	7					17																	39254127		619	1439	2058	SO:0001819	synonymous_variant	728224			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.210T>C	17.37:g.39254127A>G			A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																				0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		G	39254127	A	G	39254127	2	3	48	1	0	0	0	0	0	0	0	1	8556	157	6	2		2	KRTAP4-8	17	39254127	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3	39254127	41941083	180	4849	118	2									
ITGB4	3691	mdanderson.org	37	chr17	73752787	73752787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctactgcccccaggcTccgccttcactttgagcact	5	12	6	18	1	2	1	1	1	1	0	4	1	4	1	5	1	3	2	5	1	1	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:73752787T>C	ENST00000200181.3	+	37	5087	c.4900T>C	c.(4900-4902)Tcc>Ccc	p.S1634P	ITGB4_ENST00000450894.3_Missense_Mutation_p.S1564P|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1617P|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1564P|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1617P	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1634					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)			GCCCCCAGGCTCCGCCTTCAC	0.682																																						.											0													55	55	55					17																	73752787		2203	4298	6501	SO:0001583	missense	3691				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.4900T>C	17.37:g.73752787T>C	ENSP00000200181:p.Ser1634Pro		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140134	0.37825	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.54071	0.59;0.59;0.59	5.04	5.04	0.67666	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.51422	1.61	0.80722	D	1	P;D;P	0.89917	0.709;1.0;0.905	P;D;P	0.85130	0.802;0.997;0.628	T	0.70788	-0.4777	10	0.87932	D	0	.	15.0763	0.72080	0.0:0.0:0.0:1.0	.	1617;1564;1634	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	P	1634;1617;1617	ENSP00000200181:S1634P;ENSP00000344079:S1617P;ENSP00000400217:S1617P	ENSP00000200181:S1634P	S	+	1	0	ITGB4	71264382	1.000000	0.71417	0.937000	0.37676	0.496000	0.33645	4.247000	0.58750	2.036000	0.60181	0.379000	0.24179	TCC		0.682	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			C	73752787	T	C	73752787	3	2	48	1	0	0	0	0	1	0	0	0	7897	1551	54	2	5205	2	ITGB4	17	73752787	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	34498660	73752787	7442423	181	4850											
DNAH17	8632	mdanderson.org	37	chr17	76547619	76547619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgccccttgcttacctTcatagcctgggaaattcctt	6	14	7	14	0	2	0	1	0	1	0	3	1	3	1	5	1	4	2	5	1	3	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:76547619T>C	ENST00000585328.1	-	16	2513	c.2389A>G	c.(2389-2391)Aag>Gag	p.K797E	DNAH17_ENST00000389840.5_Missense_Mutation_p.K797E	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	797	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)			TTGCTTACCTTCATAGCCTGG	0.512																																						.											0													138	108	118					17																	76547619		2203	4300	6503	SO:0001583	missense	8632			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.2389A>G	17.37:g.76547619T>C	ENSP00000465516:p.Lys797Glu		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	0.323	-0.960564	0.02267	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.22134	1.97	4.6	-0.881	0.10607	.	.	.	.	.	T	0.13157	0.0319	L	0.37850	1.14	0.22719	N	0.998812	B	0.02656	0.0	B	0.08055	0.003	T	0.39396	-0.9616	9	0.13470	T	0.59	.	7.3558	0.26719	0.0:0.1738:0.5542:0.272	.	499	Q9UFH2-4	.	E	797	ENSP00000374490:K797E	ENSP00000300671:K797E	K	-	1	0	DNAH17	74059214	1.000000	0.71417	0.993000	0.49108	0.030000	0.12068	0.364000	0.20325	-0.062000	0.13088	-0.689000	0.03729	AAG		0.512	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		C	76547619	T	C	76547619	3	2	48	1	0	0	0	0	1	0	0	0	4601	1792	62	4	11263	4	DNAH17	17	76547619	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	2794832	76547619	4647591	182	4851											
KCTD1	284252	hgsc.bcm.edu	37	chr18	24127106	24127106	+	Intron	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	cccagcttggtgccaatgccCgcgatgctgttgagcgtggc	5	9	14	13	3	0	1	0	1	0	0	0	2	0	1	3	2	5	3	3	2	1	2	rs554790375		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr18:24127106C>T	ENST00000408011.3	-	1	545				KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000417602.1_Silent_p.A465A	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)			TGCCAATGCCCGCGATGCTGT	0.682																																						.											0													20	23	22					18																	24127106		692	1591	2283	SO:0001627	intron_variant	284252			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+1748G>A	18.37:g.24127106C>T			A8K1F5	Silent	SNP	ENST00000408011.3	37	CCDS11888.1																																																																																				0.682	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		T	24127106	C	T	24127106	1	4	48	0	1	0	0	0	0	0	0	0	8096	639	23	1		1	KCTD1	18	24127106	Intron	SNP	C	TCGA-KN-8433-01A-11D-2310-10		24127106	53950142	183	4852											
HCN2	610	mdanderson.org	37	chr19	605093	605093	+	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	acctatgacctggccagcgcGgtgatgaggatctgcaatct	9	9	12	11	2	2	3	0	3	2	0	2	4	2	4	3	3	2	1	3	3	2	1	rs55839339	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:605093G>A	ENST00000251287.2	+	3	1142	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	363					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)		TGGCCAGCGCGGTGATGAGGA	0.642													g|||	35	0.00698882	0.003	0.0159	5008	,	,		9413	0.002		0.0139	False		,,,				2504	0.0041				Melanoma(145;1175 2427 8056 36306)	.											0								G		34,4372		0,34,2169	89	73	79		1089	-6.8	0.8	19	dbSNP_129	79	170,8424		3,164,4130	no	coding-synonymous	HCN2	NM_001194.3		3,198,6299	AA,AG,GG		1.9781,0.7717,1.5692		363/890	605093	204,12796	2203	4297	6500	SO:0001819	synonymous_variant	610			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.1089G>A	19.37:g.605093G>A			O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																				0.642	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		A	605093	G	A	605093	2	1	48	1	0	0	0	0	0	0	0	1	6997	1103	39	1		1	HCN2	19	605093	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10		605093	58523890	184	4853											
PLIN4	729359	mdanderson.org	37	chr19	4512514	4512514	+	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	gactttgtagtgtccaggccGccctggacggcccctttggc	4	10	13	14	2	0	0	0	0	0	0	1	2	1	1	5	4	0	1	5	4	1	3	rs7259625	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:4512514G>C	ENST00000301286.3	-	3	1415	c.1416C>G	c.(1414-1416)ggC>ggG	p.G472G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	472	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGTCCAGGCCGCCCTGGACGG	0.602													G|||	1797	0.358826	0.6657	0.2305	5008	,	,		22698	0.1032		0.33	False		,,,				2504	0.3282					.											0								C		2301,1611		711,879,366	102	114	110		1416	-10.5	0	19	dbSNP_116	110	2661,5623		420,1821,1901	no	coding-synonymous	PLIN4	NM_001080400.1		1131,2700,2267	CC,CG,GG		32.1222,41.181,40.6855		472/1358	4512514	4962,7234	1956	4142	6098	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1416C>G	19.37:g.4512514G>C			A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		C	4512514	G	C	4512514	2	2	48	1	0	0	0	0	0	0	0	1	12092	1074	38	5		5	PLIN4	19	4512514	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	3907421	4512514	54616469	185	4854											
MUC16	94025	mdanderson.org	37	chr19	9002597	9002597	+	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	ccagtacagccgctctctgtCcagtccagggcttttggggt	5	11	12	13	1	1	0	0	0	1	0	4	0	3	0	4	3	2	3	4	3	1	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9002597C>T	ENST00000397910.4	-	51	40422	c.40219G>A	c.(40219-40221)Gac>Aac	p.D13407N	MUC16_ENST00000380951.5_Missense_Mutation_p.D48N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13409	SEA 9. {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						CGCTCTCTGTCCAGTCCAGGG	0.592																																						.											0																																										SO:0001583	missense	94025			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.40219G>A	19.37:g.9002597C>T	ENSP00000381008:p.Asp13407Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.51|11.51	1.659878|1.659878	0.29515|0.29515	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45668|.	0.89;0.89|.	2.75|2.75	-0.839|-0.839	0.10759|0.10759	SEA (1);|.	.|.	.|.	.|.	.|.	T|.	0.43344|.	0.1243|.	L|L	0.52759|0.52759	1.655|1.655	.|.	.|.	.|.	B;D|.	0.60575|.	0.007;0.988|.	B;D|.	0.75020|.	0.014;0.985|.	T|.	0.51236|.	-0.8731|.	8|.	0.54805|.	T|.	0.06|.	-11.8857|-11.8857	6.8102|6.8102	0.23801|0.23801	0.0:0.8029:0.0:0.1971|0.0:0.8029:0.0:0.1971	.|.	21052;13407|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	N|X	13407;48|246	ENSP00000381008:D13407N;ENSP00000370338:D48N|.	ENSP00000370338:D48N|.	D|W	-|-	1|3	0|0	MUC16|MUC16	8863597|8863597	0.045000|0.045000	0.20229|0.20229	0.003000|0.003000	0.11579|0.11579	0.000000|0.000000	0.00434|0.00434	1.258000|1.258000	0.32944|0.32944	-0.029000|-0.029000	0.13827|0.13827	-3.921000|-3.921000	0.00016|0.00016	GAC|TGG		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9002597	C	T	9002597	3	4	48	1	0	0	0	0	1	0	0	0	9973	855	30	3	3440	3	MUC16	19	9002597	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	4490083	9002597	50126386	186	4855											
MUC16	94025	mdanderson.org	37	chr19	9012816	9012816	+	Silent	SNP	G	G	A																															gtggtgttgaacttcctggaGcctgggtgatgcatgtcctc																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9012816G>A	ENST00000397910.4	-	34	38831	c.38628C>T	c.(38626-38628)ggC>ggT	p.G12876G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12878	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCCTGGAGCCTGGGTGAT	0.597																																						.											0													205	175	185					19																	9012816		2019	4181	6200	SO:0001819	synonymous_variant	94025			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.38628C>T	19.37:g.9012816G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9012816	G	A	9012816	2	1	48	1	0	0	0	0	0	0	0	1	9973	958	34	4		4	MUC16	19	9012816	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	10219	9012816	50116167	187	4856	119	2									
MUC16	94025	mdanderson.org	37	chr19	9012819	9012819	+	Silent	SNP	T	T	A																															gtgttgaacttcctggagccTgggtgatgcatgtcctcctc																								rs4992694	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9012819T>A	ENST00000397910.4	-	34	38828	c.38625A>T	c.(38623-38625)ccA>ccT	p.P12875P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12877	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGGAGCCTGGGTGATGCA	0.597																																						.											0																																										SO:0001819	synonymous_variant	94025			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.38625A>T	19.37:g.9012819T>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9012819	T	A	9012819	2	1	48	1	0	0	0	0	0	0	0	1	9973	1567	55	5		5	MUC16	19	9012819	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	3	9012819	50116164	188	4857	119	2									
PRDX2	7001	mdanderson.org	37	chr19	12911040	12911040	+	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	cacgccgtaatcctcagacaAgcgtctggtcacgtcagcaa	11	7	9	14	4	4	1	3	0	1	1	5	1	5	1	2	1	2	2	2	1	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:12911040A>G	ENST00000301522.2	-	4	459	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Silent_p.L111L	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	111	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCCTCAGACAAGCGTCTGGTC	0.622																																						.											0													71	74	73					19																	12911040		2203	4300	6503	SO:0001819	synonymous_variant	7001				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.331T>C	19.37:g.12911040A>G			A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	CCDS12281.1																																																																																				0.622	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		G	12911040	A	G	12911040	2	3	48	1	0	0	0	0	0	0	0	1	12465	69	3	2		2	PRDX2	19	12911040	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3898221	12911040	46217943	189	4858											
RNASEH2A	10535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	12917591	12917591	+	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	ttgcgtcctgggcgtcgatgAggcgggcaggggccccgtgc	3	7	19	12	5	0	1	0	1	0	0	2	2	1	1	3	5	2	1	3	5	0	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:12917591A>T	ENST00000221486.4	+	1	198	c.104A>T	c.(103-105)gAg>gTg	p.E35V		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	35					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GGCGTCGATGAGGCGGGCAGG	0.692																																						.											0													13	11	12					19																	12917591		2188	4285	6473	SO:0001583	missense	10535			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"ribonuclease H2, large subunit", "Aicardi-Goutieres syndrome 4"			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.104A>T	19.37:g.12917591A>T	ENSP00000221486:p.Glu35Val		B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532462	0.85812	.	.	ENSG00000104889	ENST00000221486	D	0.98987	-5.3	4.44	4.44	0.53790	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.050459	0.85682	D	0.000000	D	0.99579	0.9848	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97679	1.0171	10	0.87932	D	0	-23.2914	12.8014	0.57588	1.0:0.0:0.0:0.0	.	35	O75792	RNH2A_HUMAN	V	35	ENSP00000221486:E35V	ENSP00000221486:E35V	E	+	2	0	RNASEH2A	12778591	1.000000	0.71417	0.996000	0.52242	0.463000	0.32649	8.022000	0.88759	1.860000	0.53959	0.374000	0.22700	GAG		0.692	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		T	12917591	A	T	12917591	3	4	48	1	0	0	0	0	1	0	0	0	13412	304	11	5	106	5	RNASEH2A	19	12917591	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	6551	12917591	46211392	190	4859											
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	13397774	13397774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagggaccccggagccctgGttctctctgaggaaggcaag	9	6	14	12	1	2	1	0	1	2	0	3	4	2	4	3	5	1	2	3	5	2	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:13397774G>T	ENST00000360228.5	-	20	3095	c.3096C>A	c.(3094-3096)aaC>aaA	p.N1032K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.N1033K	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	1033					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)	CGGAGCCCTGGTTCTCTCTGA	0.537																																						.											0													14	15	15					19																	13397774		1592	3671	5263	SO:0001583	missense	773			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.3096C>A	19.37:g.13397774G>T	ENSP00000353362:p.Asn1032Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149864	0.21371	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95447	-3.71	5.19	4.14	0.48551	.	1.040750	0.07642	N	0.930452	D	0.90889	0.7137	L	0.36672	1.1	0.34120	D	0.664068	B;B;B	0.23249	0.051;0.082;0.02	B;B;B	0.18561	0.016;0.022;0.018	T	0.81982	-0.0683	10	0.06236	T	0.91	.	10.3832	0.44123	0.1566:0.0:0.8434:0.0	.	1033;1036;1032	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	1032;1036;1033;1033	ENSP00000353362:N1032K	ENSP00000317661:N1033K	N	-	3	2	CACNA1A	13258774	1.000000	0.71417	0.997000	0.53966	0.653000	0.38743	2.899000	0.48679	2.427000	0.82271	0.555000	0.69702	AAC		0.537	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13397774	G	T	13397774	3	4	48	1	0	0	0	0	1	0	0	0	2538	1252	44	5	4638	5	CACNA1A	19	13397774	Missense_Mutation	SNP	G	TCGA-KN-8433-01A-11D-2310-10	480183	13397774	45731209	191	4860											
C19orf44	84167	mdanderson.org	37	chr19	16611835	16611835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggacccaggcttgccTcatgtagaccgcccaccact	8	7	11	15	1	1	1	1	0	0	1	1	3	1	3	5	3	1	2	5	3	1	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:16611835T>C	ENST00000221671.3	+	2	388	c.232T>C	c.(232-234)Tca>Cca	p.S78P	C19orf44_ENST00000594035.1_Missense_Mutation_p.S78P|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	78										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CAGGCTTGCCTCATGTAGACC	0.532																																						.											0													109	122	117					19																	16611835		2203	4300	6503	SO:0001583	missense	84167			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.232T>C	19.37:g.16611835T>C	ENSP00000221671:p.Ser78Pro		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048238	0.36181	.	.	ENSG00000105072	ENST00000221671	.	.	.	3.84	1.66	0.24008	.	0.547731	0.16747	N	0.201199	T	0.53334	0.1790	M	0.65975	2.015	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.40757	-0.9546	9	0.49607	T	0.09	-0.1297	3.1182	0.06382	0.3702:0.1088:0.0:0.521	.	78;78	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	P	78	.	ENSP00000221671:S78P	S	+	1	0	C19orf44	16472835	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.008000	0.14320	-0.250000	0.11733	TCA		0.532	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		C	16611835	T	C	16611835	3	2	48	1	0	0	0	0	1	0	0	0	1927	1551	54	2	234	2	C19orf44	19	16611835	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	3214061	16611835	42517148	192	4861											
MYO9B	4650	hgsc.bcm.edu	37	chr19	17294679	17294680	+	Splice_Site	INS	-	-	A																															aagcagatcattccaaaggtINSaaaaaaaaaaacacaccccg																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:17294679_17294680insA	ENST00000594824.1	+	16	2520		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						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)	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411																																						.											2	Unknown(2)	soft_tissue(2)																																								SO:0001630	splice_region_variant	4650				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.2373+2->A	19.37:g.17294690_17294690dupA			O75314|Q9NUJ2|Q9UHN0	Splice_Site	INS	ENST00000594824.1	37																																																																																					0.411	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Intron	A	17294680	-	A	17294679	8	5	48	1	0	1	1	0	0	0	1	0	10085	1652	57	0	2433	0	MYO9B	19	17294679	Splice_Site	INS	-	TCGA-KN-8433-01A-11D-2310-10	682844	17294679	41834304	193	4862											
ZNF493	284443	mdanderson.org	37	chr19	21606001	21606001	+	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	acaaaacatactggaaagaaAcctttcaaatgtaaaaaatg	22	8	5	6	0	1	1	1	0	0	1	1	2	1	2	1	1	3	1	1	1	9	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:21606001A>G	ENST00000355504.4	+	2	422	c.156A>G	c.(154-156)aaA>aaG	p.K52K	ZNF493_ENST00000392288.2_Silent_p.K180K|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	52					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						CTGGAAAGAAACCTTTCAAAT	0.294																																						.											0													43	48	46					19																	21606001		2199	4290	6489	SO:0001819	synonymous_variant	284443			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.156A>G	19.37:g.21606001A>G			G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	CCDS12412.1																																																																																				0.294	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		G	21606001	A	G	21606001	2	3	48	1	0	0	0	0	0	0	0	1	17941	40	2	2		2	ZNF493	19	21606001	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4311322	21606001	37522982	194	4863											
ZNF208	7757	mdanderson.org	37	chr19	22155691	22155691	+	Silent	SNP	A	A	G																															ttgtagggtttctctccagtAtgaattctcttatgttccat																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155691A>G	ENST00000397126.4	-	4	2293	c.2145T>C	c.(2143-2145)caT>caC	p.H715H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	715					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)				TCTCTCCAGTATGAATTCTCT	0.373																																						.											0													35	37	37					19																	22155691		1993	4170	6163	SO:0001819	synonymous_variant	7757			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.2145T>C	19.37:g.22155691A>G				Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22155691	A	G	22155691	2	3	48	1	0	0	0	0	0	0	0	1	17763	446	16	4		4	ZNF208	19	22155691	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	549690	22155691	36973292	195	4864	120	2									
ZNF208	7757	mdanderson.org	37	chr19	22155696	22155696	+	Missense_Mutation	SNP	T	T	C																															gggtttctctccagtatgaaTtctcttatgttccataaggt																								rs201427226		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155696T>C	ENST00000397126.4	-	4	2288	c.2140A>G	c.(2140-2142)Att>Gtt	p.I714V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	714					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)				CCAGTATGAATTCTCTTATGT	0.363																																						.											0													34	36	35					19																	22155696		1994	4182	6176	SO:0001583	missense	7757			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.2140A>G	19.37:g.22155696T>C	ENSP00000380315:p.Ile714Val			Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273186	0.23221	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.00986	5.47	1.9	-0.727	0.11166	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	.	.	.	0.22001	N	0.999425	D	0.67145	0.996	D	0.63877	0.919	T	0.45673	-0.9245	8	0.36615	T	0.2	.	2.6811	0.05094	0.3914:0.1391:0.0:0.4695	.	614	O43345	ZN208_HUMAN	V	714;614	ENSP00000380315:I714V	ENSP00000380315:I714V	I	-	1	0	ZNF208	21947536	0.000000	0.05858	0.002000	0.10522	0.258000	0.26162	0.170000	0.16663	-0.730000	0.04869	0.232000	0.17820	ATT		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		C	22155696	T	C	22155696	3	2	48	1	0	0	0	0	1	0	0	0	17763	1493	52	4	1706	4	ZNF208	19	22155696	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	5	22155696	36973287	196	4865	120	2									
ZNF208	7757	mdanderson.org	37	chr19	22155715	22155715	+	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	attctcttatgttccataagGtttgaggaccagttgaaagc	11	14	9	7	0	1	2	0	2	1	0	3	3	2	3	2	2	1	3	2	2	3	6	rs201994264		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155715G>A	ENST00000397126.4	-	4	2269	c.2121C>T	c.(2119-2121)aaC>aaT	p.N707N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	707					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)				GTTCCATAAGGTTTGAGGACC	0.363																																						.											0													34	35	35					19																	22155715		1989	4185	6174	SO:0001819	synonymous_variant	7757			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.2121C>T	19.37:g.22155715G>A				Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		A	22155715	G	A	22155715	2	1	48	1	0	0	0	0	0	0	0	1	17763	1252	44	3		3	ZNF208	19	22155715	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	19	22155715	36973268	197	4866											
ZNF676	163223	mdanderson.org	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-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	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																																						.											0																																										SO:0001819	synonymous_variant	163223			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			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	48	1	0	0	0	0	0	0	0	1	18080	1372	48	4		4	ZNF676	19	22363172	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	207457	22363172	36765811	198	4867											
ZNF536	9745	mdanderson.org	37	chr19	30936335	30936335	+	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	ctcgagtataacctgcagggTcctgggaacatgaaggagaa	13	7	13	8	1	0	2	0	1	0	1	2	5	1	3	2	3	3	2	2	3	5	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:30936335T>C	ENST00000355537.3	+	2	2013	c.1866T>C	c.(1864-1866)ggT>ggC	p.G622G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	622					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)					ACCTGCAGGGTCCTGGGAACA	0.592																																						.											0													95	106	102					19																	30936335		2203	4300	6503	SO:0001819	synonymous_variant	9745				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.1866T>C	19.37:g.30936335T>C			A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.592	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		C	30936335	T	C	30936335	2	2	48	1	0	0	0	0	0	0	0	1	17971	1654	58	2		2	ZNF536	19	30936335	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	8573163	30936335	28192648	199	4868											
KIAA0355	9710	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	34818401	34818401	+	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	ttcaacaactcttttgttctCaaagtgcagcaattcctgag	11	14	6	10	0	3	1	2	1	2	0	5	1	4	1	1	0	4	3	1	0	4	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:34818401C>T	ENST00000299505.6	+	4	1654	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	261										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)					CTTTTGTTCTCAAAGTGCAGC	0.403																																						.											0													107	116	113					19																	34818401		2203	4300	6503	SO:0001587	stop_gained	9710				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.781C>T	19.37:g.34818401C>T	ENSP00000299505:p.Gln261*		Q2M3W4	Nonsense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	44	11.257385	0.99537	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.120985	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.9959	19.3067	0.94165	0.0:1.0:0.0:0.0	.	.	.	.	X	261	.	ENSP00000299505:Q261X	Q	+	1	0	KIAA0355	39510241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.775000	0.68915	2.580000	0.87095	0.544000	0.68410	CAA		0.403	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		T	34818401	C	T	34818401	4	4	48	1	0	0	0	0	0	1	0	0	8170	827	29	4	791	4	KIAA0355	19	34818401	Nonsense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	3882066	34818401	24310582	200	4869											
COX7A1	1346	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	36642385	36642385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagacacagcgtcattgTcactcggtacaggatgttgt	9	10	11	11	2	2	1	2	0	0	1	3	2	2	2	1	2	2	2	1	2	1	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:36642385T>C	ENST00000292907.3	-	3	627	c.166A>G	c.(166-168)Aca>Gca	p.T56A	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	56					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGTCATTGTCACTCGGTAC	0.622																																						.											0													190	145	160					19																	36642385		2203	4300	6503	SO:0001583	missense	1346			BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.166A>G	19.37:g.36642385T>C	ENSP00000292907:p.Thr56Ala			Missense_Mutation	SNP	ENST00000292907.3	37	CCDS12490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.91|19.91	3.914076|3.914076	0.72983|0.72983	.|.	.|.	ENSG00000161281|ENSG00000161281	ENST00000292907|ENST00000437291	T|.	0.62941|.	-0.01|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.41581|.	0.1165|.	.|.	.|.	.|.	0.28372|0.28372	N|N	0.919952|0.919952	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|.	0.33574|.	-0.9863|.	9|.	0.66056|.	D|.	0.02|.	-15.061|-15.061	11.4831|11.4831	0.50337|0.50337	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	56|.	P24310|.	CX7A1_HUMAN|.	A|W	56|85	ENSP00000292907:T56A|.	ENSP00000292907:T56A|.	T|X	-|-	1|3	0|0	COX7A1|COX7A1	41334225|41334225	0.998000|0.998000	0.40836|0.40836	0.422000|0.422000	0.26621|0.26621	0.003000|0.003000	0.03518|0.03518	3.916000|3.916000	0.56416|0.56416	1.962000|1.962000	0.57031|0.57031	0.520000|0.520000	0.50463|0.50463	ACA|TGA		0.622	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		C	36642385	T	C	36642385	3	2	48	1	0	0	0	0	1	0	0	0	3779	1667	58	2	81	2	COX7A1	19	36642385	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1823984	36642385	22486598	201	4870											
SNRPA	6626	mdanderson.org	37	chr19	41269564	41269564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaacgagctcatgctgTccatgcttttcaatcagtaa	12	11	7	11	1	3	1	3	0	0	1	4	2	4	1	2	0	4	4	2	0	3	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:41269564T>C	ENST00000243563.3	+	5	1223	c.673T>C	c.(673-675)Tcc>Ccc	p.S225P		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	225	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTCATGCTGTCCATGCTTTT	0.567																																						.											0													179	155	163					19																	41269564		2203	4300	6503	SO:0001583	missense	6626			X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"RNA binding motif (RRM) containing"	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.673T>C	19.37:g.41269564T>C	ENSP00000243563:p.Ser225Pro			Missense_Mutation	SNP	ENST00000243563.3	37	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798304	0.90538	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.17054	2.3	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.120404	0.56097	D	0.000023	T	0.50667	0.1629	M	0.91972	3.26	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.60959	-0.7159	10	0.59425	D	0.04	-28.1748	15.0072	0.71522	0.0:0.0:0.0:1.0	.	225	P09012	SNRPA_HUMAN	P	225;146	ENSP00000243563:S225P	ENSP00000243563:S225P	S	+	1	0	SNRPA	45961404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.644000	0.67902	2.184000	0.69523	0.482000	0.46254	TCC		0.567	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		C	41269564	T	C	41269564	3	2	48	1	0	0	0	0	1	0	0	0	14859	1667	58	2	691	2	SNRPA	19	41269564	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	4627179	41269564	17859419	202	4871											
PVRL2	5819	mdanderson.org	37	chr19	45391603	45391603	+	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	tctgattcctaccagggcaaAggctttgtcatgtcccgggc	7	11	11	12	1	2	1	1	1	1	0	4	1	4	1	3	3	1	2	3	3	2	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:45391603A>G	ENST00000252483.5	+	9	1584	c.1584A>G	c.(1582-1584)aaA>aaG	p.K528K	TOMM40_ENST00000252487.5_5'Flank|TOMM40_ENST00000426677.2_5'Flank|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000592434.1_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	528					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|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)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ACCAGGGCAAAGGCTTTGTCA	0.532																																						.											0													90	85	87					19																	45391603		1982	4161	6143	SO:0001819	synonymous_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1584A>G	19.37:g.45391603A>G			A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	CCDS42576.1																																																																																				0.532	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		G	45391603	A	G	45391603	2	3	48	1	0	0	0	0	0	0	0	1	12840	69	3	2		2	PVRL2	19	45391603	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	4122039	45391603	13737380	203	4872											
LILRB3	11025	mdanderson.org	37	chr19	54725992	54725992	+	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	agggctgagagggtgggtttGctgtaggctcctaggagaga	8	9	19	5	0	0	2	0	1	0	2	1	5	1	3	1	5	1	5	1	5	2	3	rs148339740	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:54725992G>A	ENST00000391750.1	-	5	502	c.366C>T	c.(364-366)agC>agT	p.S122S	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000245620.9_Silent_p.S122S|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000424807.1_Silent_p.S122S|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Silent_p.S122S|LILRB3_ENST00000346401.6_Silent_p.S122S|LILRA6_ENST00000440558.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	122	Ig-like C2-type 2.		S -> N (in dbSNP:rs3826750). {ECO:0000269|PubMed:9278324}.		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)		GGGTGGGTTTGCTGTAGGCTC	0.592													.|||	959	0.191494	0.1029	0.1744	5008	,	,		13407	0.1071		0.2495	False		,,,				2504	0.3507					.											0													62	40	48					19																	54725992		2132	3919	6051	SO:0001819	synonymous_variant	11025			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.366C>T	19.37:g.54725992G>A			C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54725992	G	A	54725992	2	1	48	1	0	0	0	0	0	0	0	1	8792	1310	46	4		4	LILRB3	19	54725992	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	9334389	54725992	4402991	204	4873											
LILRB2	10288	mdanderson.org	37	chr19	54778570	54778570	+	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	agggtggcgtagatgctgggCtcagctggaggttccctttc	5	11	16	9	1	1	1	1	0	0	1	3	2	2	2	1	5	2	5	1	5	1	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:54778570C>T	ENST00000391749.4	-	14	2035	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E	LILRB2_ENST00000391748.1_Silent_p.E587E|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Silent_p.E472E|LILRB2_ENST00000314446.5_Silent_p.E587E	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	588					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATGCTGGGCTCAGCTGGAG	0.617																																						.											0													132	114	120					19																	54778570		2203	4300	6503	SO:0001819	synonymous_variant	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1764G>A	19.37:g.54778570C>T			A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	CCDS12886.1																																																																																				0.617	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54778570	C	T	54778570	2	4	48	1	0	0	0	0	0	0	0	1	8791	796	28	4		4	LILRB2	19	54778570	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	52578	54778570	4350413	205	4874											
LILRB1	10859	mdanderson.org	37	chr19	55148076	55148076	+	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	gacacaaaggacagacaggcGgaagaggacaggcagatgga	17	1	16	7	1	0	3	0	0	0	3	0	8	0	7	0	6	0	1	0	6	2	0	rs62133433	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:55148076G>A	ENST00000396331.1	+	15	2136	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	LILRB1_ENST00000396317.1_Silent_p.A577A|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.A593A|LILRB1_ENST00000396315.1_Silent_p.A595A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.A594A|LILRB1_ENST00000324602.7_Silent_p.A595A|LILRB1_ENST00000434867.2_Silent_p.A593A|LILRB1_ENST00000418536.2_Silent_p.A577A|LILRB1_ENST00000427581.2_Silent_p.A644A|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396327.3_Silent_p.A594A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	593					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACAGACAGGCGGAAGAGGACA	0.602										HNSCC(37;0.09)																												.											0								G	,,,	84,4312	22.3+/-47.3	7,70,2121	98	83	88		1785,1782,1782,1779	-2.6	0	19	dbSNP_129	88	77,8511	6.4+/-24.3	3,71,4220	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	,,,	10,141,6341	AA,AG,GG		0.8966,1.9108,1.24	,,,	595/653,594/652,594/652,593/651	55148076	161,12823	2198	4294	6492	SO:0001819	synonymous_variant	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1779G>A	19.37:g.55148076G>A			A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																				0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55148076	G	A	55148076	2	1	48	1	0	0	0	0	0	0	0	1	8790	1103	39	1		1	LILRB1	19	55148076	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	369506	55148076	3980907	206	4875											
LILRB4	11006	mdanderson.org	37	chr19	55179145	55179145	+	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	gccaaggtgaaacactccagAcctaggagagaaatggcctc	14	5	11	11	0	0	3	0	1	0	2	2	5	1	4	4	3	1	0	4	3	4	1	rs61738946	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:55179145A>T	ENST00000391736.1	+	13	1416	c.1101A>T	c.(1099-1101)agA>agT	p.R367S	LILRB4_ENST00000391733.3_Missense_Mutation_p.R368S|LILRB4_ENST00000430952.2_Missense_Mutation_p.R366S|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.R367S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	367					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AACACTCCAGACCTAGGAGAG	0.567																																						.											0													116	118	117					19																	55179145		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1101A>T	19.37:g.55179145A>T	ENSP00000375616:p.Arg367Ser		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	23	0.010531135531135532	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	A	6.892	0.534167	0.13188	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	T;T;T;T;T	0.00505	6.93;6.93;7.0;6.94;6.93	1.73	1.73	0.24493	.	.	.	.	.	T	0.00144	0.0004	L	0.41710	1.295	0.09310	N	1	B;B;B;B	0.23490	0.002;0.086;0.086;0.043	B;B;B;B	0.12837	0.0;0.008;0.008;0.007	T	0.40627	-0.9553	9	0.27785	T	0.31	.	5.5252	0.16955	1.0:0.0:0.0:0.0	rs61738946	366;368;366;367	C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	367;367;366;368;366	ENSP00000375616:R367S;ENSP00000270452:R367S;ENSP00000408995:R366S;ENSP00000375613:R368S;ENSP00000401962:R366S	ENSP00000270452:R367S	R	+	3	2	LILRB4	59870957	0.002000	0.14202	0.018000	0.16275	0.021000	0.10359	0.274000	0.18680	1.054000	0.40438	0.459000	0.35465	AGA		0.567	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			T	55179145	A	T	55179145	3	4	48	1	0	0	0	0	1	0	0	0	8793	272	10	5	1143	5	LILRB4	19	55179145	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	31069	55179145	3949838	207	4876											
ZSCAN5A	79149	mdanderson.org	37	chr19	56734014	56734014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctgggttctcttcccTgttttccttcagatccttct	3	18	6	14	0	3	1	1	0	2	1	8	1	7	1	4	1	0	2	4	1	0	6			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:56734014T>C	ENST00000587340.1	-	6	1380	c.685A>G	c.(685-687)Agg>Ggg	p.R229G	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R229G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R83G|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R112G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R229G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	229					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCTCTTCCCTGTTTTCCTTC	0.507																																						.											0													210	180	190					19																	56734014		2203	4300	6503	SO:0001583	missense	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.685A>G	19.37:g.56734014T>C	ENSP00000467631:p.Arg229Gly		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	7.264	0.605783	0.14002	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06608	3.28;3.28	2.27	-3.83	0.04269	.	.	.	.	.	T	0.06554	0.0168	M	0.69823	2.125	0.09310	N	1	B;B	0.27229	0.172;0.104	B;B	0.25140	0.058;0.058	T	0.39860	-0.9593	9	0.72032	D	0.01	.	0.4792	0.00545	0.1989:0.3173:0.2012:0.2827	.	112;229	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	229;112	ENSP00000375593:R229G;ENSP00000254165:R112G	ENSP00000254165:R112G	R	-	1	2	ZSCAN5A	61425826	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.540000	0.06106	-1.082000	0.03101	-0.366000	0.07423	AGG		0.507	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		C	56734014	T	C	56734014	3	2	48	1	0	0	0	0	1	0	0	0	18235	1579	55	2	813	2	ZSCAN5A	19	56734014	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	1554869	56734014	2394969	208	4877											
ZNF17	7565	mdanderson.org	37	chr19	57931172	57931172	+	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	cacctggctgagcatgacggAacacaccccaagcgtacagc	12	4	10	15	2	0	2	0	2	0	0	0	3	0	3	3	2	5	3	3	2	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:57931172A>G	ENST00000601808.1	+	3	525	c.312A>G	c.(310-312)ggA>ggG	p.G104G	ZNF17_ENST00000595206.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Silent_p.G116G|ZNF17_ENST00000307658.7_Silent_p.G106G	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	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)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGCATGACGGAACACACCCCA	0.507																																					Melanoma(149;1637 1853 29914 42869 44988)	.											0													132	129	130					19																	57931172		2203	4300	6503	SO:0001819	synonymous_variant	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.312A>G	19.37:g.57931172A>G			B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	CCDS42636.1																																																																																				0.507	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		G	57931172	A	G	57931172	2	3	48	1	0	0	0	0	0	0	0	1	17740	233	9	4		4	ZNF17	19	57931172	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1197158	57931172	1197811	209	4878											
POFUT1	23509	mdanderson.org	37	chr20	30804433	30804433	+	Missense_Mutation	SNP	T	T	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	aaggaaacccctttggcccaTtctgggatcagtttcatgtg	9	12	10	10	0	3	0	2	0	1	0	3	2	3	2	3	3	1	1	3	3	2	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:30804433T>C	ENST00000375749.3	+	4	513	c.451T>C	c.(451-453)Ttc>Ctc	p.F151L	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.F151L	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	151					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)			CTTTGGCCCATTCTGGGATCA	0.507																																						.											0													117	112	114					20																	30804433		2203	4300	6503	SO:0001583	missense	23509			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.451T>C	20.37:g.30804433T>C	ENSP00000364902:p.Phe151Leu		A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	T	33	5.197325	0.94960	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T;T	0.31510	1.49;1.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.73975	-0.3813	10	0.87932	D	0	.	16.2041	0.82108	0.0:0.0:0.0:1.0	.	151;151	Q9H488;Q9H488-2	OFUT1_HUMAN;.	L	151	ENSP00000364902:F151L;ENSP00000364882:F151L	ENSP00000364882:F151L	F	+	1	0	POFUT1	30268094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.444000	0.80532	2.219000	0.72066	0.533000	0.62120	TTC		0.507	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		C	30804433	T	C	30804433	3	2	48	1	0	0	0	0	1	0	0	0	12183	1493	52	4	465	4	POFUT1	20	30804433	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		30804433	32221087	210	4879											
SLA2	84174	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr20	35262937	35262937	+	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	ccgagtctcagcgacagctcGgccgggccacctgccgggaa	7	4	14	16	5	1	0	1	0	1	0	3	3	1	1	5	3	3	1	5	3	1	0	rs374910927		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:35262937G>A	ENST00000262866.4	-	3	569	c.147C>T	c.(145-147)gcC>gcT	p.A49A	SLA2_ENST00000360672.2_Silent_p.A49A	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	49	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCGACAGCTCGGCCGGGCCAC	0.577																																					Ovarian(59;720 1165 26994 46188 51693)	.											0								G	,	0,4406		0,0,2203	46	43	44		147,147	-2.4	0.1	20		44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLA2	NM_032214.2,NM_175077.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	49/262,49/211	35262937	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84174			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.147C>T	20.37:g.35262937G>A			A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Silent	SNP	ENST00000262866.4	37	CCDS13282.1																																																																																				0.577	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		A	35262937	G	A	35262937	2	1	48	1	0	0	0	0	0	0	0	1	14364	1103	39	1		1	SLA2	20	35262937	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	4458504	35262937	27762583	211	4880											
ZNF334	55713	mdanderson.org	37	chr20	45131515	45131515	+	Missense_Mutation	SNP	T	T	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	aatctttctgttttctttgcTtttctttgcaacaattactt	7	23	3	8	0	4	0	0	0	4	0	4	0	4	0	0	0	4	3	0	0	4	9			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:45131515T>C	ENST00000347606.4	-	5	645	c.463A>G	c.(463-465)Agc>Ggc	p.S155G	ZNF334_ENST00000593880.1_Missense_Mutation_p.S178G|ZNF334_ENST00000457685.2_Missense_Mutation_p.S117G	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	155					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(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTTCTTTGCTTTTCTTTGCA	0.353																																						.											0													116	103	107					20																	45131515		2202	4300	6502	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.463A>G	20.37:g.45131515T>C	ENSP00000255129:p.Ser155Gly		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184182	0.38609	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.08896	3.27;3.04	2.96	2.96	0.34315	.	.	.	.	.	T	0.07458	0.0188	L	0.39467	1.215	0.22127	N	0.99934	B;B;B	0.20887	0.049;0.027;0.049	B;B;B	0.22386	0.027;0.027;0.039	T	0.28681	-1.0036	9	0.34782	T	0.22	.	6.2248	0.20701	0.0:0.0:0.2596:0.7404	.	117;155;178	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	G	117;155	ENSP00000402582:S117G;ENSP00000255129:S155G	ENSP00000255129:S155G	S	-	1	0	ZNF334	44564922	0.149000	0.22717	0.692000	0.30179	0.677000	0.39632	0.787000	0.26858	1.360000	0.45960	0.260000	0.18958	AGC		0.353	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			C	45131515	T	C	45131515	3	2	48	1	0	0	0	0	1	0	0	0	17848	1609	56	2	1583	2	ZNF334	20	45131515	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	9868578	45131515	17894005	212	4881											
PFDN4	5203	mdanderson.org	37	chr20	52830988	52830988	+	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	gagctgaaggaagaaatagaAgtaaaaaaggtattgaaaat	22	7	11	1	0	0	4	0	2	0	2	0	6	0	5	0	2	1	3	0	2	11	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:52830988A>G	ENST00000371419.2	+	2	377	c.123A>G	c.(121-123)gaA>gaG	p.E41E	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	41					'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)			AAGAAATAGAAGTAAAAAAGG	0.284																																						.											0													20	19	20					20																	52830988		2202	4291	6493	SO:0001819	synonymous_variant	5203			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.123A>G	20.37:g.52830988A>G			Q5TD11|Q92779	Silent	SNP	ENST00000371419.2	37	CCDS13445.1																																																																																				0.284	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623		G	52830988	A	G	52830988	2	3	48	1	0	0	0	0	0	0	0	1	11757	69	3	2		2	PFDN4	20	52830988	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	7699473	52830988	10194532	213	4882											
UCKL1	54963	broad.mit.edu	37	chr20	62576011	62576011	+	Frame_Shift_Del	DEL	T	T	-																															cctcgatgtcccggccgcgcTcactgatgtcccggcgcagc																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:62576011delT	ENST00000354216.6	-	6	773	c.731delA	c.(730-732)gagfs	p.E244fs	UCKL1_ENST00000492660.1_5'Flank|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Frame_Shift_Del_p.E229fs|UCKL1_ENST00000369892.3_Frame_Shift_Del_p.E244fs|UCKL1_ENST00000358711.3_Frame_Shift_Del_p.E244fs	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	244					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)					CCGGCCGCGCTCACTGATGTC	0.602																																						.											0													123	79	94					20																	62576011		2199	4298	6497	SO:0001589	frameshift_variant	54963			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.731delA	20.37:g.62576011delT	ENSP00000346155:p.Glu244fs		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Frame_Shift_Del	DEL	ENST00000354216.6	37	CCDS13547.1																																																																																				0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		-	62576011	T	-	62576011	7	5	48	1	0	1	0	1	0	0	0	0	16922	1551	54	0	955	0	UCKL1	20	62576011	Frame_Shift_Del	DEL	T	TCGA-KN-8433-01A-11D-2310-10	9745023	62576011	449509	214	4883											
NRIP1	8204	mdanderson.org	37	chr21	16338989	16338989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctacattttcttcatTcttatggccaagtagcaatt	9	20	4	8	0	4	0	1	0	3	0	4	0	4	0	1	1	2	2	1	1	5	10			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:16338989T>C	ENST00000400202.1	-	3	2237	c.1525A>G	c.(1525-1527)Aat>Gat	p.N509D	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.N509D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N509D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	509	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTTCTTCATTCTTATGGCCA	0.368																																						.											0													196	189	191					21																	16338989		2203	4300	6503	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1525A>G	21.37:g.16338989T>C	ENSP00000383063:p.Asn509Asp		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149415	0.37923	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18810	2.19;2.19;2.19	5.68	4.49	0.54785	.	0.381500	0.28203	N	0.016205	T	0.13927	0.0337	L	0.34521	1.04	0.30218	N	0.797058	P	0.39480	0.675	B	0.39258	0.295	T	0.05115	-1.0905	10	0.15066	T	0.55	-1.9487	7.4965	0.27492	0.0:0.0713:0.1435:0.7852	.	509	P48552	NRIP1_HUMAN	D	509	ENSP00000383060:N509D;ENSP00000383063:N509D;ENSP00000327213:N509D	ENSP00000327213:N509D	N	-	1	0	NRIP1	15260860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.773000	0.62331	2.170000	0.68504	0.528000	0.53228	AAT		0.368	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		C	16338989	T	C	16338989	3	2	48	1	0	0	0	0	1	0	0	0	10652	1783	62	4	1955	4	NRIP1	21	16338989	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10		16338989	31790906	215	4884											
TMPRSS15	5651	mdanderson.org	37	chr21	19726118	19726118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatcagattctataagaaAggtggcagtaacttggttgg	12	13	11	5	0	3	2	2	0	1	2	3	2	3	2	0	4	1	3	0	4	4	7			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:19726118A>G	ENST00000284885.3	-	9	976	c.943T>C	c.(943-945)Ttt>Ctt	p.F315L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	315	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						TCTATAAGAAAGGTGGCAGTA	0.294																																						.											0													68	73	71					21																	19726118		2203	4289	6492	SO:0001583	missense	5651				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.943T>C	21.37:g.19726118A>G	ENSP00000284885:p.Phe315Leu		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226273	0.79576	.	.	ENSG00000154646	ENST00000284885	T	0.33654	1.4	4.46	4.46	0.54185	CUB (5);	0.000000	0.64402	D	0.000001	T	0.45597	0.1350	L	0.55103	1.725	0.47341	D	0.999396	P	0.52692	0.955	P	0.54060	0.741	T	0.36359	-0.9751	9	.	.	.	.	12.7079	0.57073	1.0:0.0:0.0:0.0	.	315	P98073	ENTK_HUMAN	L	315	ENSP00000284885:F315L	.	F	-	1	0	TMPRSS15	18647989	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.657000	0.67996	1.878000	0.54408	0.454000	0.30748	TTT		0.294	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		G	19726118	A	G	19726118	3	3	48	1	0	0	0	0	1	0	0	0	16243	72	3	2	2184	2	TMPRSS15	21	19726118	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3387129	19726118	28403777	216	4885											
SON	6651	mdanderson.org	37	chr21	34924913	34924913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatcgttcaatgatgTctatggctgctgattcttac	7	16	9	9	1	3	3	1	3	2	0	4	3	3	3	0	1	3	4	0	1	3	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:34924913T>C	ENST00000356577.4	+	3	3851	c.3376T>C	c.(3376-3378)Tct>Cct	p.S1126P	SON_ENST00000290239.6_Missense_Mutation_p.S1126P|SON_ENST00000381679.4_Missense_Mutation_p.S1126P|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S1126P	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1126	14 X 6 AA repeats of [ED]-R-S-M-M-S.				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						TTCAATGATGTCTATGGCTGC	0.473																																						.											0													205	167	180					21																	34924913		2203	4300	6503	SO:0001583	missense	6651			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.3376T>C	21.37:g.34924913T>C	ENSP00000348984:p.Ser1126Pro		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869029	0.51588	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.19669	2.29;2.28;2.26;2.13	5.79	5.79	0.91817	.	0.000000	0.50627	D	0.000115	T	0.40595	0.1123	L	0.54323	1.7	0.38795	D	0.955079	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.993;0.997;0.997;0.997	T	0.26087	-1.0113	10	0.45353	T	0.12	.	12.5272	0.56093	0.0:0.0:0.0:1.0	.	1126;1126;807;1126;1126	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	P	1126	ENSP00000348984:S1126P;ENSP00000290239:S1126P;ENSP00000300278:S1126P;ENSP00000371095:S1126P	ENSP00000290239:S1126P	S	+	1	0	SON	33846783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.046000	0.57376	2.207000	0.71202	0.533000	0.62120	TCT		0.473	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34924913	T	C	34924913	3	2	48	1	0	0	0	0	1	0	0	0	14926	1667	58	2	3386	2	SON	21	34924913	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	15198795	34924913	13204982	217	4886											
ZNF295	49854	mdanderson.org	37	chr21	43411206	43411206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtggggctgtcaggcTccagaggctggatcttgggc	4	9	18	10	0	2	1	1	0	1	1	3	2	3	2	2	7	0	3	2	7	0	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:43411206T>C	ENST00000310826.5	-	3	3182	c.2999A>G	c.(2998-3000)gAg>gGg	p.E1000G	ZBTB21_ENST00000398505.3_Missense_Mutation_p.E799G|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E1000G|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E1000G	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1000					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GCTGTCAGGCTCCAGAGGCTG	0.572																																						.											0													78	86	83					21																	43411206		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2999A>G	21.37:g.43411206T>C	ENSP00000308759:p.Glu1000Gly		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212603	0.58452	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08370	3.42;3.1;3.1;3.1	5.5	5.5	0.81552	.	0.531808	0.18360	N	0.143585	T	0.06188	0.0160	N	0.19112	0.55	0.58432	D	0.999996	B;P	0.35328	0.112;0.495	B;B	0.28465	0.02;0.09	T	0.49707	-0.8911	10	0.25106	T	0.35	-19.2238	15.6171	0.76775	0.0:0.0:0.0:1.0	.	799;1000	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	G	799;1000;1000;1000	ENSP00000381517:E799G;ENSP00000308759:E1000G;ENSP00000381512:E1000G;ENSP00000381523:E1000G	ENSP00000308759:E1000G	E	-	2	0	ZNF295	42284275	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.552000	0.45828	2.096000	0.63516	0.533000	0.62120	GAG		0.572	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		C	43411206	T	C	43411206	3	2	48	1	0	0	0	0	1	0	0	0	17824	1551	54	2	205	2	ZNF295	21	43411206	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	8486293	43411206	4718689	218	4887											
RFPL1	5988	mdanderson.org	37	chr22	29837976	29837976	+	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	gtctatacattcaggagtgtCtctgctgaggagccactgca	9	11	11	10	0	3	1	1	1	2	0	4	3	3	3	1	2	4	2	1	2	2	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468																																						.											2	Substitution - coding silent(2)	lung(1)|endometrium(1)											116	96	103					22																	29837976		2203	4300	6503	SO:0001819	synonymous_variant	5988			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.819C>A	22.37:g.29837976C>A			Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	CCDS13857.2																																																																																				0.468	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		A	29837976	C	A	29837976	2	1	48	1	0	0	0	0	0	0	0	1	13253	900	32	5		5	RFPL1	22	29837976	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10		29837976	21466590	219	4888											
SGSM3	27352	mdanderson.org	37	chr22	40802191	40802191	+	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	ttctacgagggctcccgggtGctgttccagctcacgctggg	4	10	14	13	3	2	0	1	0	1	0	4	1	4	0	2	3	3	5	2	3	1	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:40802191G>T	ENST00000248929.9	+	9	1113	c.924G>T	c.(922-924)gtG>gtT	p.V308V	SGSM3_ENST00000454798.2_Silent_p.V241V	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTCCCGGGTGCTGTTCCAGC	0.627																																						.											0													73	64	67					22																	40802191		2203	4300	6503	SO:0001819	synonymous_variant	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.924G>T	22.37:g.40802191G>T				Silent	SNP	ENST00000248929.9	37	CCDS14002.1																																																																																				0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		T	40802191	G	T	40802191	2	4	48	1	0	0	0	0	0	0	0	1	14224	1306	46	5		5	SGSM3	22	40802191	Silent	SNP	G	TCGA-KN-8433-01A-11D-2310-10	10964215	40802191	10502375	220	4889											
CYP2D6	1565	mdanderson.org	37	chr22	42525176	42525176	+	Missense_Mutation	SNP	C	C	A																															ccacgcgggcccatagcgcgCcaggaacacccctgggggtg																								rs1135823	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42525176C>A	ENST00000360608.5	-	3	478	c.364G>T	c.(364-366)Gcg>Tcg	p.A122S	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Intron|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A122S|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000608491.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	122					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)	CCATAGCGCGCCAGGAACACC	0.672													C|||	2	0.000399361	0	0	5008	,	,		17374	0		0.001	False		,,,				2504	0.001					.											0								C	SER/ALA,	1,4049		0,1,2024	20	24	23		364,	4	0	22	dbSNP_86	23	1,8325		0,1,4162	no	missense,intron	CYP2D6	NM_000106.4,NM_001025161.1	99,	0,2,6186	AA,AC,CC		0.012,0.0247,0.0162	benign,	122/498,	42525176	2,12374	2025	4163	6188	SO:0001583	missense	1565			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.364G>T	22.37:g.42525176C>A	ENSP00000353820:p.Ala122Ser		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	11.04	1.521346	0.27211	2.47E-4	1.2E-4	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.68765	-0.35;-0.35	3.99	3.99	0.46301	.	0.310469	0.26331	N	0.024999	T	0.65004	0.2650	N	0.24115	0.695	0.09310	N	1	B	0.25743	0.133	P	0.48654	0.585	T	0.56086	-0.8037	10	0.10636	T	0.68	.	14.3635	0.66789	0.0:1.0:0.0:0.0	rs1135823;rs17362183	122	Q6NWU0	.	S	122;122;71	ENSP00000353820:A122S;ENSP00000374620:A122S	ENSP00000353820:A122S	A	-	1	0	CYP2D6	40855120	0.438000	0.25602	0.029000	0.17559	0.042000	0.13812	2.317000	0.43770	2.157000	0.67596	0.305000	0.20034	GCG		0.672	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			A	42525176	C	A	42525176	3	1	48	1	0	0	0	0	1	0	0	0	4169	739	26	5	1157	5	CYP2D6	22	42525176	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	1722985	42525176	8779390	221	4890	121	2									
CYP2D6	1565	mdanderson.org	37	chr22	42525182	42525182	+	Missense_Mutation	SNP	A	A	T																															gggcccatagcgcgccaggaAcacccctgggggtgggacgg																								rs1135822		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42525182A>T	ENST00000360608.5	-	3	472	c.358T>A	c.(358-360)Ttc>Atc	p.F120I	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Intron|CYP2D6_ENST00000389970.3_Missense_Mutation_p.F120I|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000608491.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	120			F -> I (in dbSNP:rs1135822). {ECO:0000269|PubMed:15469410}.		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)	CGCGCCAGGAACACCCCTGGG	0.677																																						.											0								T	ILE/PHE,	2,4056		0,2,2027	20	24	23		358,	-8	0	22	dbSNP_86	23	1,8335		0,1,4167	yes	missense,intron	CYP2D6	NM_000106.4,NM_001025161.1	21,	0,3,6194	TT,TA,AA		0.012,0.0493,0.0242	benign,	120/498,	42525182	3,12391	2029	4168	6197	SO:0001583	missense	1565			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.358T>A	22.37:g.42525182A>T	ENSP00000353820:p.Phe120Ile		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	t	0.353	-0.944029	0.02322	4.93E-4	1.2E-4	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.67865	-0.29;-0.29	3.99	-7.98	0.01135	.	2.701080	0.01780	N	0.031683	T	0.29126	0.0724	N	0.01751	-0.74	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41752	-0.9491	10	0.05436	T	0.98	.	4.0552	0.09813	0.1994:0.466:0.0957:0.2389	rs1135822;rs17362176;rs28371707	120	Q6NWU0	.	I	120;120;69	ENSP00000353820:F120I;ENSP00000374620:F120I	ENSP00000353820:F120I	F	-	1	0	CYP2D6	40855126	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-5.990000	0.00086	-2.458000	0.00538	-0.867000	0.03001	TTC		0.677	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			T	42525182	A	T	42525182	3	4	48	1	0	0	0	0	1	0	0	0	4169	43	2	5	1163	5	CYP2D6	22	42525182	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	6	42525182	8779384	222	4891	121	2									
RRP7A	27341	mdanderson.org	37	chr22	42910784	42910784	+	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	tctgcgtagtcactgatccaCtctgaggaaaagggagccag	11	8	12	10	1	3	2	1	2	2	0	4	4	4	4	2	2	2	1	2	2	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42910784C>T	ENST00000323013.6	-	5	477	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	154							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K154K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CACTGATCCACTCTGAGGAAA	0.602																																						.											1	Substitution - coding silent(1)	prostate(1)											46	50	49					22																	42910784		2189	4299	6488	SO:0001630	splice_region_variant	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.461-1G>A	22.37:g.42910784C>T			A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	CCDS14036.1																																																																																				0.602	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703	Silent	T	42910784	C	T	42910784	5	4	48	1	0	0	0	0	0	0	1	0	13689	579	20	4	392	4	RRP7A	22	42910784	Splice_Site	SNP	C	TCGA-KN-8433-01A-11D-2310-10	385602	42910784	8393782	223	4892											
NLGN4X	57502	mdanderson.org	37	chrX	5810997	5810997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggcgtcataagtgggAtgtcatctggcgaccggcgc	6	11	15	9	4	3	0	2	0	1	0	3	2	3	1	1	4	0	1	1	4	1	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:5810997A>G	ENST00000381095.3	-	6	2939	c.2312T>C	c.(2311-2313)aTc>aCc	p.I771T	NLGN4X_ENST00000538097.1_Missense_Mutation_p.I771T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I791T|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I771T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I771T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	771					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CATAAGTGGGATGTCATCTGG	0.552																																						.											0													289	236	254					X																	5810997		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2312T>C	X.37:g.5810997A>G	ENSP00000370485:p.Ile771Thr		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373663	0.24857	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	3.82	3.82	0.43975	.	0.737822	0.11161	N	0.593064	T	0.24122	0.0584	L	0.59436	1.845	0.50039	D	0.999846	P;P;P	0.44429	0.566;0.566;0.835	B;B;P	0.44673	0.196;0.206;0.457	T	0.02676	-1.1125	10	0.66056	D	0.02	.	11.2516	0.49028	1.0:0.0:0.0:0.0	.	828;771;791	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	T	771;791;771;771;771	ENSP00000370485:I771T;ENSP00000370483:I791T;ENSP00000275857:I771T;ENSP00000370482:I771T;ENSP00000439203:I771T	ENSP00000275857:I771T	I	-	2	0	NLGN4X	5820997	1.000000	0.71417	0.637000	0.29366	0.043000	0.13939	7.992000	0.88273	1.222000	0.43521	0.417000	0.27973	ATC		0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		G	5810997	A	G	5810997	3	3	48	1	0	0	0	0	1	0	0	0	10464	333	12	4	142	4	NLGN4X	23	5810997	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10		5810997	149459563	224	4893											
TLR7	51284	mdanderson.org	37	chrX	12905178	12905178	+	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	tctgattttcagcatctttcTttcctcaaatgcctgaatct	8	18	4	11	0	6	2	2	2	4	0	7	2	7	2	2	0	2	1	2	0	2	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:12905178T>C	ENST00000380659.3	+	3	1690	c.1551T>C	c.(1549-1551)tcT>tcC	p.S517S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	517					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)	AGCATCTTTCTTTCCTCAAAT	0.378																																						.											0													123	131	128					X																	12905178		2203	4300	6503	SO:0001819	synonymous_variant	51284			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.1551T>C	X.37:g.12905178T>C			D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	CCDS14151.1																																																																																				0.378	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		C	12905178	T	C	12905178	2	2	48	1	0	0	0	0	0	0	0	1	15953	1596	56	2		2	TLR7	23	12905178	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	7094181	12905178	142365382	225	4894											
FAM9C	171484	mdanderson.org	37	chrX	13061295	13061295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctttccccatgctcaTcagttacatctccctccttt	6	16	2	17	0	4	0	2	0	2	0	8	0	7	0	5	0	2	2	5	0	1	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:13061295T>C	ENST00000333995.3	-	3	264	c.134A>G	c.(133-135)gAt>gGt	p.D45G	FAM9C_ENST00000542843.1_Missense_Mutation_p.D45G|FAM9C_ENST00000380625.3_Missense_Mutation_p.D45G			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	45						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCCATGCTCATCAGTTACATC	0.398																																						.											0													208	159	176					X																	13061295		2203	4300	6503	SO:0001583	missense	171484				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"testis expressed 39C"	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.134A>G	X.37:g.13061295T>C	ENSP00000334430:p.Asp45Gly		B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	CCDS35203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.05|10.05	1.243495|1.243495	0.22796|0.22796	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000542843;ENST00000380625;ENST00000333995|ENST00000438997	T;T;T|.	0.23754|.	1.89;1.89;1.89|.	0.118|0.118	0.118|0.118	0.14667|0.14667	.|.	.|.	.|.	.|.	.|.	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D|.	0.57571|.	0.98|.	P|.	0.57009|.	0.811|.	T|T	0.27226|0.27226	-1.0080|-1.0080	8|4	0.72032|.	D|.	0.01|.	.|.	.|.	.|.	.|.	.|.	45|.	Q8IZT9|.	FAM9C_HUMAN|.	G|V	45|5	ENSP00000439185:D45G;ENSP00000369999:D45G;ENSP00000334430:D45G|.	ENSP00000334430:D45G|.	D|M	-|-	2|1	0|0	FAM9C|FAM9C	12971216|12971216	0.139000|0.139000	0.22563|0.22563	0.026000|0.026000	0.17262|0.17262	0.033000|0.033000	0.12548|0.12548	0.935000|0.935000	0.28924|0.28924	0.153000|0.153000	0.19213|0.19213	0.151000|0.151000	0.16131|0.16131	GAT|ATG		0.398	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		C	13061295	T	C	13061295	3	2	48	1	0	0	0	0	1	0	0	0	5661	1435	50	4	386	4	FAM9C	23	13061295	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	156117	13061295	142209265	226	4895											
MBTPS2	51360	broad.mit.edu	37	chrX	21896681	21896681	+	Frame_Shift_Del	DEL	A	A	-																															gcagaaccaataaagactgtAaaaaaagctcaagttcaagt																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:21896681delA	ENST00000379484.5	+	9	1231	c.1132delA	c.(1132-1134)aaafs	p.K379fs		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	379	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S380fs*28(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TAAAGACTGTAAAAAAAGCTC	0.328																																						.											1	Insertion - Frameshift(1)	lung(1)											106	106	106					X																	21896681		2203	4300	6503	SO:0001589	frameshift_variant	51360			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1132delA	X.37:g.21896681delA	ENSP00000368798:p.Lys379fs		Q9UM70|Q9UMD3	Frame_Shift_Del	DEL	ENST00000379484.5	37	CCDS14201.1																																																																																				0.328	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			-	21896681	A	-	21896681	7	5	48	1	0	1	0	1	0	0	0	0	9362	363	13	0	1166	0	MBTPS2	23	21896681	Frame_Shift_Del	DEL	A	TCGA-KN-8433-01A-11D-2310-10	8835386	21896681	133373879	227	4896											
CXorf22	170063	mdanderson.org	37	chrX	35974129	35974129	+	Missense_Mutation	SNP	T	T	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	gacaggcacaggacttcctgTtttactacagtttgatccag	10	12	9	10	0	0	1	0	1	0	0	2	3	2	2	2	2	2	3	2	2	2	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:35974129T>C	ENST00000297866.5	+	8	1292	c.1226T>C	c.(1225-1227)gTt>gCt	p.V409A		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	409										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGACTTCCTGTTTTACTACAG	0.368																																						.											0													95	90	91					X																	35974129		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1226T>C	X.37:g.35974129T>C	ENSP00000297866:p.Val409Ala		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466133	0.43839	.	.	ENSG00000165164	ENST00000297866	T	0.63417	-0.04	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.75264	2.295	0.35691	D	0.814869	D	0.76494	0.999	D	0.67382	0.951	T	0.77590	-0.2531	10	0.16420	T	0.52	-44.5563	13.5093	0.61502	0.0:0.0:0.0:1.0	.	409	Q6ZTR5	CX022_HUMAN	A	409	ENSP00000297866:V409A	ENSP00000297866:V409A	V	+	2	0	CXorf22	35884050	1.000000	0.71417	0.845000	0.33349	0.008000	0.06430	5.632000	0.67819	1.854000	0.53819	0.486000	0.48141	GTT		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		C	35974129	T	C	35974129	3	2	48	1	0	0	0	0	1	0	0	0	4102	1725	60	2	1256	2	CXorf22	23	35974129	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	14077448	35974129	119296431	228	4897											
SYTL5	94122	broad.mit.edu	37	chrX	37932872	37932873	+	Frame_Shift_Ins	INS	-	-	C																															agtacagagccaagagcaaaINScccgccaggatgcagaaaag																										TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:37932872_37932873insC	ENST00000357972.5	+	5	1021_1022	c.475_476insC	c.(475-477)accfs	p.T159fs	SYTL5_ENST00000456733.2_Frame_Shift_Ins_p.T159fs|SYTL5_ENST00000297875.2_Frame_Shift_Ins_p.T159fs|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	159					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						CCAAGAGCAAACCCGCCAGGAT	0.446																																						.											0																																										SO:0001589	frameshift_variant	94122				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.478dupC	X.37:g.37932875_37932875dupC	ENSP00000350657:p.Thr159fs		A2RRF2	Frame_Shift_Ins	INS	ENST00000357972.5	37	CCDS14244.1																																																																																				0.446	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		C	37932873	-	C	37932872	7	5	48	1	0	1	1	0	0	0	0	0	15483	43	2	0	489	0	SYTL5	23	37932872	Frame_Shift_Ins	INS	-	TCGA-KN-8433-01A-11D-2310-10	1958743	37932872	117337688	229	4898											
SLC9A7	84679	mdanderson.org	37	chrX	46529082	46529082	+	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	attgctccaaaaaagagacaAtctgtgtagtaaaatttatc	17	12	6	6	0	1	1	0	0	1	1	3	2	2	1	1	0	1	3	1	0	8	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:46529082A>G	ENST00000328306.4	-	5	778	c.753T>C	c.(751-753)gaT>gaC	p.D251D		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	251					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AAAAGAGACAATCTGTGTAGT	0.338																																					Pancreas(118;454 1696 1930 13865 39976)	.											0													97	84	89					X																	46529082		2203	4300	6503	SO:0001819	synonymous_variant	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.753T>C	X.37:g.46529082A>G			O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	CCDS14269.1																																																																																				0.338	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		G	46529082	A	G	46529082	2	3	48	1	0	0	0	0	0	0	0	1	14719	98	4	4		4	SLC9A7	23	46529082	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	8596210	46529082	108741478	230	4899											
ZNF81	347344	mdanderson.org	37	chrX	47774692	47774692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaagcaatgcagcaaagaAcctggataaaactattgggc	18	7	9	7	0	0	1	0	0	0	1	0	2	0	2	1	2	5	3	1	2	8	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:47774692A>G	ENST00000376954.1	+	6	1015	c.647A>G	c.(646-648)aAc>aGc	p.N216S	ZNF81_ENST00000338637.7_Missense_Mutation_p.N216S			P51508	ZNF81_HUMAN	zinc finger protein 81	216					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)				GCAGCAAAGAACCTGGATAAA	0.348																																						.											0													63	61	61					X																	47774692		1844	4081	5925	SO:0001583	missense	347344			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.647A>G	X.37:g.47774692A>G	ENSP00000366153:p.Asn216Ser		Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	9.121	1.008947	0.19199	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.05382	3.45;3.45	3.95	-0.0534	0.13818	.	0.149824	0.31370	N	0.007772	T	0.03871	0.0109	L	0.31752	0.955	0.22017	N	0.999417	B	0.15141	0.012	B	0.11329	0.006	T	0.36237	-0.9756	10	0.72032	D	0.01	.	1.2929	0.02064	0.3318:0.371:0.1138:0.1835	.	216	P51508	ZNF81_HUMAN	S	216	ENSP00000366153:N216S;ENSP00000341151:N216S	ENSP00000341151:N216S	N	+	2	0	ZNF81	47659636	0.000000	0.05858	0.005000	0.12908	0.380000	0.30137	0.093000	0.15086	-0.098000	0.12285	0.441000	0.28932	AAC		0.348	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		G	47774692	A	G	47774692	3	3	48	1	0	0	0	0	1	0	0	0	18171	43	2	2	661	2	ZNF81	23	47774692	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1245610	47774692	107495868	231	4900											
ZNF81	347344	mdanderson.org	37	chrX	47774819	47774819	+	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	ggaaaagtcctcagcctcaaAcactcactcagtcaaaatgt	15	8	6	12	0	5	0	5	0	0	0	6	1	6	1	2	1	2	0	2	1	5	0			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:47774819A>G	ENST00000376954.1	+	6	1142	c.774A>G	c.(772-774)aaA>aaG	p.K258K	ZNF81_ENST00000338637.7_Silent_p.K258K			P51508	ZNF81_HUMAN	zinc finger protein 81	258					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)				TCAGCCTCAAACACTCACTCA	0.398																																						.											0													58	54	55					X																	47774819		1934	4113	6047	SO:0001819	synonymous_variant	347344			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.774A>G	X.37:g.47774819A>G			Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	37	CCDS43933.1																																																																																				0.398	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		G	47774819	A	G	47774819	2	3	48	1	0	0	0	0	0	0	0	1	18171	40	2	2		2	ZNF81	23	47774819	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	127	47774819	107495741	232	4901											
GPR173	54328	mdanderson.org	37	chrX	53106925	53106925	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctactgtgtcatgtgAagcaggctggtaggcagaca	11	8	13	9	0	1	2	1	1	0	1	1	3	1	2	1	3	3	4	1	3	4	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:53106925A>G	ENST00000332582.4	+	2	1613	c.1122A>G	c.(1120-1122)tgA>tgG	p.*374W		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	0					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTGTCATGTGAAGCAGGCTGG	0.612																																						.											0													19	19	19					X																	53106925		2195	4282	6477	SO:0001578	stop_lost	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.1122A>G	X.37:g.53106925A>G	ENSP00000331600:p.*374Trpext*16		B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329990	0.41297	.	.	ENSG00000184194	ENST00000332582	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3254	0.55007	1.0:0.0:0.0:0.0	.	.	.	.	W	374	.	.	X	+	3	0	GPR173	53123650	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.519000	0.81809	1.815000	0.52974	0.425000	0.28330	TGA		0.612	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		G	53106925	A	G	53106925	4	3	48	1	0	0	0	0	0	0	0	0	6671	259	9	4	1124	4	GPR173	23	53106925	Nonstop_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	5332106	53106925	102163635	233	4902											
HSD17B10	3028	mdanderson.org	37	chrX	53458523	53458523	+	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	ttctctgggaggctggtcagCagtggggtgccaaacagacc	8	8	15	10	0	2	1	1	0	1	1	3	2	2	2	2	5	3	2	2	5	1	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:53458523C>T	ENST00000168216.6	-	6	642	c.615G>A	c.(613-615)ctG>ctA	p.L205L	HSD17B10_ENST00000375304.5_Silent_p.L196L|HSD17B10_ENST00000375298.4_Missense_Mutation_p.C169Y|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	205					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						GGCTGGTCAGCAGTGGGGTGC	0.512																																						.											0													55	39	44					X																	53458523		2203	4297	6500	SO:0001819	synonymous_variant	3028			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.615G>A	X.37:g.53458523C>T			Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Silent	SNP	ENST00000168216.6	37	CCDS14354.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689585	0.29962	.	.	ENSG00000072506	ENST00000375298	T	0.80033	-1.33	5.88	5.0	0.66597	.	.	.	.	.	D	0.84401	0.5464	.	.	.	0.25606	N	0.986548	.	.	.	.	.	.	T	0.78748	-0.2083	6	0.87932	D	0	.	15.438	0.75162	0.0:0.8253:0.1747:0.0	.	.	.	.	Y	169	ENSP00000364447:C169Y	ENSP00000364447:C169Y	C	-	2	0	HSD17B10	53475248	0.993000	0.37304	0.998000	0.56505	0.850000	0.48378	0.317000	0.19487	2.489000	0.83994	0.600000	0.82982	TGC		0.512	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1	NM_004493		T	53458523	C	T	53458523	2	4	48	1	0	0	0	0	0	0	0	1	7379	697	25	4		4	HSD17B10	23	53458523	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	351598	53458523	101812037	234	4903											
TRO	7216	mdanderson.org	37	chrX	54955088	54955088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaccgcgaggcagtggAgatggaagtccaagctgcag	11	5	16	9	2	0	1	0	0	0	1	1	4	1	2	2	3	3	5	2	3	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:54955088A>G	ENST00000173898.7	+	12	2043	c.1931A>G	c.(1930-1932)gAg>gGg	p.E644G	TRO_ENST00000375041.2_Missense_Mutation_p.E247G|TRO_ENST00000319167.8_Missense_Mutation_p.E644G|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.E175G|TRO_ENST00000399736.1_Missense_Mutation_p.E247G|TRO_ENST00000375022.4_Missense_Mutation_p.E644G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	644					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GAGGCAGTGGAGATGGAAGTC	0.542																																						.											0													45	51	49					X																	54955088		2132	4239	6371	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1931A>G	X.37:g.54955088A>G	ENSP00000173898:p.Glu644Gly		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172525	0.38315	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.08546	3.8;3.57;3.57;3.43;3.08;3.44	2.99	2.99	0.34606	.	.	.	.	.	T	0.16896	0.0406	L	0.46157	1.445	0.36622	D	0.875822	B;D;D;B	0.71674	0.259;0.998;0.998;0.259	B;D;D;B	0.75484	0.047;0.968;0.986;0.143	T	0.10222	-1.0639	9	0.72032	D	0.01	.	4.2402	0.10645	0.8402:0.0:0.1597:0.0	.	247;247;644;644	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	G	644;644;644;247;247;175;247	ENSP00000173898:E644G;ENSP00000318278:E644G;ENSP00000364162:E644G;ENSP00000382641:E247G;ENSP00000405126:E175G;ENSP00000364181:E247G	ENSP00000173898:E644G	E	+	2	0	TRO	54971813	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.303000	0.59098	1.422000	0.47177	0.441000	0.28932	GAG		0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		G	54955088	A	G	54955088	3	3	48	1	0	0	0	0	1	0	0	0	16571	304	11	2	1973	2	TRO	23	54955088	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1496565	54955088	100315472	235	4904											
ZXDB	158586	mdanderson.org	37	chrX	57620759	57620759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccaaagcggagtggAacgtacatcctgactctgac	13	6	9	13	2	1	2	0	2	1	0	2	4	2	4	3	2	4	1	3	2	4	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:57620759A>G	ENST00000374888.1	+	1	2491	c.2278A>G	c.(2278-2280)Aac>Gac	p.N760D		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	760			N -> S (in dbSNP:rs1057340).		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)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						AGCGGAGTGGAACGTACATCC	0.483																																						.											0													172	131	145					X																	57620759		2203	4300	6503	SO:0001583	missense	158586			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.2278A>G	X.37:g.57620759A>G	ENSP00000364023:p.Asn760Asp		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.853565	0.00558	.	.	ENSG00000198455	ENST00000374888	T	0.09350	2.99	3.91	1.57	0.23409	.	0.492036	0.23457	N	0.047972	T	0.04227	0.0117	N	0.16166	0.38	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.44726	-0.9309	10	0.02654	T	1	.	6.0158	0.19603	0.7572:0.0:0.2428:0.0	.	760	P98169	ZXDB_HUMAN	D	760	ENSP00000364023:N760D	ENSP00000364023:N760D	N	+	1	0	ZXDB	57637484	0.543000	0.26434	0.166000	0.22797	0.698000	0.40448	1.055000	0.30467	0.527000	0.28560	0.430000	0.28490	AAC		0.483	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		G	57620759	A	G	57620759	3	3	48	1	0	0	0	0	1	0	0	0	18248	246	9	4	2280	4	ZXDB	23	57620759	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	2665671	57620759	97649801	236	4905											
GDPD2	54857	mdanderson.org	37	chrX	69645623	69645623	+	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	cctcccacagattcctcttcCgccgctggggacactggatg	6	9	10	16	2	1	1	0	0	1	1	4	3	4	3	5	3	0	1	5	3	0	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:69645623C>T	ENST00000374382.3	+	4	471	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	GDPD2_ENST00000538649.1_5'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.R74C|GDPD2_ENST00000536730.1_5'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	74					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)					ATTCCTCTTCCGCCGCTGGGG	0.607																																						.											0													120	104	109					X																	69645623		2203	4300	6503	SO:0001583	missense	54857			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.220C>T	X.37:g.69645623C>T	ENSP00000363503:p.Arg74Cys		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469382	0.43839	.	.	ENSG00000130055	ENST00000453994;ENST00000374382	T;T	0.29917	1.55;1.55	5.19	4.32	0.51571	.	1.069260	0.07122	N	0.844137	T	0.29716	0.0742	L	0.44542	1.39	0.18873	N	0.999981	D;P	0.60575	0.988;0.946	B;B	0.41299	0.353;0.333	T	0.17289	-1.0374	9	.	.	.	-0.4479	11.4917	0.50385	0.3236:0.6764:0.0:0.0	.	74;74	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	C	74	ENSP00000414019:R74C;ENSP00000363503:R74C	.	R	+	1	0	GDPD2	69562348	0.135000	0.22499	0.242000	0.24170	0.624000	0.37722	0.680000	0.25306	1.149000	0.42402	0.594000	0.82650	CGC		0.607	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		T	69645623	C	T	69645623	3	4	48	1	0	0	0	0	1	0	0	0	6324	652	23	1	230	1	GDPD2	23	69645623	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	12024864	69645623	85624937	237	4906											
SLC7A3	84889	mdanderson.org	37	chrX	70147758	70147758	+	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	tcaggctgaagctggtagtaAggcatcatcagggtgagtgc	10	9	15	7	0	3	2	3	2	0	0	3	2	3	2	0	4	2	5	0	4	3	2			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:70147758A>G	ENST00000374299.3	-	6	1077	c.933T>C	c.(931-933)ccT>ccC	p.P311P	SLC7A3_ENST00000298085.4_Silent_p.P311P			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	311					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)	GCTGGTAGTAAGGCATCATCA	0.532																																						.											0													118	93	101					X																	70147758		2203	4300	6503	SO:0001819	synonymous_variant	84889			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.933T>C	X.37:g.70147758A>G			D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	CCDS14404.1																																																																																				0.532	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		G	70147758	A	G	70147758	2	3	48	1	0	0	0	0	0	0	0	1	14698	59	3	2		2	SLC7A3	23	70147758	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	502135	70147758	85122802	238	4907											
HDX	139324	mdanderson.org	37	chrX	83616516	83616516	+	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	tttaattcagttgccacagcTtcaattttctctctacaaac	11	16	3	11	0	4	0	2	0	2	0	5	0	4	0	1	0	4	2	1	0	4	8			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:83616516T>C	ENST00000297977.5	-	5	1521	c.1410A>G	c.(1408-1410)gaA>gaG	p.E470E	HDX_ENST00000506585.2_Silent_p.E412E|HDX_ENST00000373177.2_Silent_p.E470E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	470						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGCCACAGCTTCAATTTTCT	0.413																																					Pancreas(53;231 1169 36156 43751 51139)	.											0													73	60	65					X																	83616516		2203	4300	6503	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1410A>G	X.37:g.83616516T>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		C	83616516	T	C	83616516	2	2	48	1	0	0	0	0	0	0	0	1	7026	1606	56	2		2	HDX	23	83616516	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	13468758	83616516	71654044	239	4908											
HNRNPH2	3188	mdanderson.org	37	chrX	100668187	100668187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagggatgggcttatccaAccagtctagttatggaggtc	9	10	15	7	0	1	0	0	0	1	0	3	3	2	3	2	5	1	2	2	5	4	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:100668187A>G	ENST00000316594.5	+	2	1289	c.1211A>G	c.(1210-1212)aAc>aGc	p.N404S		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	404	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGCTTATCCAACCAGTCTAGT	0.488																																						.											0													202	191	195					X																	100668187		2203	4300	6503	SO:0001583	missense	3188			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1211A>G	X.37:g.100668187A>G	ENSP00000361927:p.Asn404Ser		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	A	3.428	-0.116753	0.06838	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.09817	2.94	4.62	4.62	0.57501	.	0.549745	0.18226	N	0.147723	T	0.06096	0.0158	N	0.22421	0.69	0.38861	D	0.956481	P	0.41673	0.759	B	0.36378	0.223	T	0.41980	-0.9478	10	0.23891	T	0.37	-6.5213	6.0861	0.19968	0.8865:0.0:0.1135:0.0	.	404	P55795	HNRH2_HUMAN	S	359;404	ENSP00000361927:N404S	ENSP00000361927:N404S	N	+	2	0	HNRNPH2	100554843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.845000	0.55880	1.825000	0.53177	0.417000	0.27973	AAC		0.488	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		G	100668187	A	G	100668187	3	3	48	1	0	0	0	0	1	0	0	0	7267	43	2	2	1213	2	HNRNPH2	23	100668187	Missense_Mutation	SNP	A	TCGA-KN-8433-01A-11D-2310-10	17051671	100668187	54602373	240	4909											
TCEAL2	140597	mdanderson.org	37	chrX	101382406	101382406	+	Missense_Mutation	SNP	T	T	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	aaagaaatttacaggaccccTtctatcctaggggtccaagg	13	9	9	10	0	1	1	0	0	1	1	3	2	3	2	4	4	1	0	4	4	6	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:101382406T>C	ENST00000372780.1	+	3	823	c.604T>C	c.(604-606)Ttc>Ctc	p.F202L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.F202L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACAGGACCCCTTCTATCCTAG	0.483																																						.											0													85	90	88					X																	101382406		2200	4288	6488	SO:0001583	missense	140597			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.604T>C	X.37:g.101382406T>C	ENSP00000361866:p.Phe202Leu		B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894753	0.72639	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.08458	3.09;3.09	3.32	3.32	0.38043	.	0.148040	0.31772	N	0.007093	T	0.08802	0.0218	L	0.52011	1.625	0.09310	N	1	B	0.28291	0.206	B	0.32724	0.151	T	0.19712	-1.0297	10	0.33141	T	0.24	.	7.3385	0.26623	0.0:0.0:0.0:1.0	.	202	Q9H3H9	TCAL2_HUMAN	L	202	ENSP00000361866:F202L;ENSP00000332359:F202L	ENSP00000332359:F202L	F	+	1	0	TCEAL2	101269062	0.009000	0.17119	0.004000	0.12327	0.920000	0.55202	2.184000	0.42575	1.544000	0.49359	0.481000	0.45027	TTC		0.483	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		C	101382406	T	C	101382406	3	2	48	1	0	0	0	0	1	0	0	0	15668	1609	56	2	606	2	TCEAL2	23	101382406	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	714219	101382406	53888154	241	4910											
KLHL13	90293	mdanderson.org	37	chrX	117053557	117053557	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggcagcttccagcgtgTcttgaaggttgtccatatta	9	13	10	9	1	1	1	0	1	1	0	3	1	3	1	2	2	3	3	2	2	4	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:117053557T>C	ENST00000262820.3	-	4	1406	c.497A>G	c.(496-498)gAc>gGc	p.D166G	KLHL13_ENST00000541812.1_Missense_Mutation_p.D150G|KLHL13_ENST00000545703.1_Missense_Mutation_p.D124G|KLHL13_ENST00000371878.1_Missense_Mutation_p.D115G|KLHL13_ENST00000540167.1_Missense_Mutation_p.D150G|KLHL13_ENST00000469946.1_Missense_Mutation_p.D115G|KLHL13_ENST00000371876.1_Missense_Mutation_p.D115G|KLHL13_ENST00000539496.1_Missense_Mutation_p.D169G|KLHL13_ENST00000371882.1_Missense_Mutation_p.D115G	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	166					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						TTCCAGCGTGTCTTGAAGGTT	0.368																																						.											0													75	80	78					X																	117053557		2203	4300	6503	SO:0001583	missense	90293			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.497A>G	X.37:g.117053557T>C	ENSP00000262820:p.Asp166Gly		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934356	0.52866	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.07	5.07	0.68467	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.58620	0.86;0.983;0.875;0.885	B;P;P;P	0.57101	0.43;0.813;0.614;0.665	T	0.75136	-0.3424	10	0.30854	T	0.27	.	13.9563	0.64150	0.0:0.0:0.0:1.0	.	150;169;160;166	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	G	115;115;115;115;150;150;169;166;124;115	ENSP00000360949:D115G;ENSP00000360943:D115G;ENSP00000360945:D115G;ENSP00000412640:D115G;ENSP00000444450:D150G;ENSP00000441029:D150G;ENSP00000443191:D169G;ENSP00000262820:D166G;ENSP00000440707:D124G;ENSP00000419803:D115G	ENSP00000262820:D166G	D	-	2	0	KLHL13	116937585	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.868000	0.87116	1.870000	0.54199	0.412000	0.27726	GAC		0.368	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		C	117053557	T	C	117053557	3	2	48	1	0	0	0	0	1	0	0	0	8369	1667	58	2	1486	2	KLHL13	23	117053557	Missense_Mutation	SNP	T	TCGA-KN-8433-01A-11D-2310-10	15671151	117053557	38217003	242	4911											
GLUD2	2747	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	120182071	120182071	+	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	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-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:120182071C>T	ENST00000328078.1	+	1	610	c.533C>T	c.(532-534)cCg>cTg	p.P178L		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																																						.											0													118	91	100					X																	120182071		2203	4300	6503	SO:0001583	missense	2747			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>T	X.37:g.120182071C>T	ENSP00000327589:p.Pro178Leu		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	8.558	0.877132	0.17395	.	.	ENSG00000182890	ENST00000328078	D	0.97688	-4.49	1.62	0.69	0.18039	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.98940	0.9640	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96735	0.9542	10	0.87932	D	0	.	4.7803	0.13199	0.3626:0.6374:0.0:0.0	.	178	P49448	DHE4_HUMAN	L	178	ENSP00000327589:P178L	ENSP00000327589:P178L	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		T	120182071	C	T	120182071	3	4	48	1	0	0	0	0	1	0	0	0	6477	652	23	1	535	1	GLUD2	23	120182071	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	3128514	120182071	35088489	243	4912											
GPR112	139378	mdanderson.org	37	chrX	135494443	135494443	+	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	ggattcttcatttttgtgttTcactgtgtgatgaaggagag	8	17	12	4	0	3	3	2	2	1	1	3	5	3	4	0	2	0	1	0	2	1	5			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:135494443T>C	ENST00000394143.1	+	24	9246	c.8955T>C	c.(8953-8955)ttT>ttC	p.F2985F	GPR112_ENST00000394141.1_Silent_p.F2780F|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Silent_p.F2985F|GPR112_ENST00000412101.1_Silent_p.F2780F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2985					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)					TTTTTGTGTTTCACTGTGTGA	0.473																																						.											0													226	165	186					X																	135494443		2203	4300	6503	SO:0001819	synonymous_variant	139378			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.8955T>C	X.37:g.135494443T>C			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135494443	T	C	135494443	2	2	48	1	0	0	0	0	0	0	0	1	6629	1780	62	4		4	GPR112	23	135494443	Silent	SNP	T	TCGA-KN-8433-01A-11D-2310-10	15312372	135494443	19776117	244	4913											
MCF2	4168	mdanderson.org	37	chrX	138695406	138695406	+	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	agtttacatgcttgaaagaaAgagtatccaactcccactgc	14	10	7	10	0	0	3	0	1	0	2	2	3	2	3	2	0	4	3	2	0	5	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:138695406A>G	ENST00000370576.4	-	10	1573				MCF2_ENST00000370573.4_Intron|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000338585.6_Silent_p.S460S|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000519895.1_Silent_p.S520S|MCF2_ENST00000370578.4_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTTGAAAGAAAGAGTATCCAA	0.308																																						.											0																																										SO:0001627	intron_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1363+1633T>C	X.37:g.138695406A>G			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																				0.308	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		G	138695406	A	G	138695406	1	3	48	0	1	0	0	0	0	0	0	0	9378	59	3	2		2	MCF2	23	138695406	Intron	SNP	A	TCGA-KN-8433-01A-11D-2310-10	3200963	138695406	16575154	245	4914											
MAGEC1	9947	mdanderson.org	37	chrX	140993912	140993912	+	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	gattcctgtgagcccctcctCctcctccactttactgagtc	5	13	6	17	0	0	2	0	2	0	0	6	3	5	2	7	0	2	0	7	0	1	3	rs12558365	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:140993912C>T	ENST00000285879.4	+	4	1008	c.722C>T	c.(721-723)tCc>tTc	p.S241F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	241										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)					AGCCCCTCCTCCTCCTCCACT	0.483										HNSCC(15;0.026)																												.											0													76	66	69					X																	140993912		2192	4219	6411	SO:0001583	missense	9947			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.722C>T	X.37:g.140993912C>T	ENSP00000285879:p.Ser241Phe		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	318	0.19168173598553345	100	0.21008403361344538	65	0.19345238095238096	62	0.11272727272727273	94	0.12668463611859837	t	0.551	-0.849407	0.02651	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.13420	4.3;2.59	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	P	0.99999999595708	B	0.06786	0.001	B	0.01281	0.0	T	0.45011	-0.9290	7	0.08179	T	0.78	.	2.6694	0.05063	0.0:0.5025:0.0:0.4974	.	241	O60732	MAGC1_HUMAN	F	241;43;42	ENSP00000285879:S241F;ENSP00000359542:S43F	ENSP00000285879:S241F	S	+	2	0	MAGEC1	140821578	0.000000	0.05858	0.116000	0.21606	0.116000	0.19942	-2.548000	0.00930	0.054000	0.16065	0.054000	0.15206	TCC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140993912	C	T	140993912	3	4	48	1	0	0	0	0	1	0	0	0	9180	855	30	3	728	3	MAGEC1	23	140993912	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2298506	140993912	14276648	246	4915											
MAGEC1	9947	mdanderson.org	37	chrX	140994381	140994381	+	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	agttcccctgagagaactcaCagtacttttgagggttttcc	9	13	9	10	0	1	3	1	2	0	1	3	4	3	3	3	1	2	3	3	1	2	6	rs76145360		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:140994381C>G	ENST00000285879.4	+	4	1477	c.1191C>G	c.(1189-1191)caC>caG	p.H397Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	397								p.H397Q(1)		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)					AGAGAACTCACAGTACTTTTG	0.483										HNSCC(15;0.026)																												.											1	Substitution - Missense(1)	pancreas(1)											109	121	117					X																	140994381		2203	4296	6499	SO:0001583	missense	9947			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.1191C>G	X.37:g.140994381C>G	ENSP00000285879:p.His397Gln		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.420945	0.00188	.	.	ENSG00000155495	ENST00000285879	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44143	-0.9347	8	0.09590	T	0.72	.	2.1541	0.03808	0.2516:0.2493:0.0:0.4992	.	397	O60732	MAGC1_HUMAN	Q	397	ENSP00000285879:H397Q	ENSP00000285879:H397Q	H	+	3	2	MAGEC1	140822047	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.426000	0.00236	-3.737000	0.00113	-3.811000	0.00019	CAC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		G	140994381	C	G	140994381	3	3	48	1	0	0	0	0	1	0	0	0	9180	477	17	5	1197	5	MAGEC1	23	140994381	Missense_Mutation	SNP	C	TCGA-KN-8433-01A-11D-2310-10	469	140994381	14276179	247	4916											
SLITRK4	139065	mdanderson.org	37	chrX	142716870	142716870	+	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	tctatagtttgtggaatgaaAgcttctgtgctcagtccatc	9	15	9	8	0	3	1	1	1	2	0	5	2	4	2	1	1	2	3	1	1	4	4			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:142716870A>G	ENST00000381779.4	-	2	2280	c.2055T>C	c.(2053-2055)gcT>gcC	p.A685A	SLITRK4_ENST00000338017.4_Silent_p.A685A|SLITRK4_ENST00000356928.1_Silent_p.A685A	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	685						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)					GTGGAATGAAAGCTTCTGTGC	0.468																																						.											0													120	120	120					X																	142716870		2203	4300	6503	SO:0001819	synonymous_variant	139065			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.2055T>C	X.37:g.142716870A>G			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	CCDS14679.1																																																																																				0.468	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		G	142716870	A	G	142716870	2	3	48	1	0	0	0	0	0	0	0	1	14745	59	3	2		2	SLITRK4	23	142716870	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	1722489	142716870	12553690	248	4917											
PRRG3	79057	broad.mit.edu	37	chrX	150869347	150869348	+	Frame_Shift_Del	DEL	CT	CT	-																															gcaccctctacctccctgagCtctctctctccagactgtcc																								rs149812906	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:150869347_150869348delCT	ENST00000370353.3	+	4	928_929	c.538_539delCT	c.(538-540)ctcfs	p.L180fs	PRRG3_ENST00000538575.1_Frame_Shift_Del_p.L180fs			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	180						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCTGAGCTCTCTCTCTCC	0.663																																						.											0																																										SO:0001589	frameshift_variant	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.538_539delCT	X.37:g.150869355_150869356delCT	ENSP00000359378:p.Leu180fs		A1A523|A1A575|Q8N2N6	Frame_Shift_Del	DEL	ENST00000370353.3	37	CCDS14699.1																																																																																				0.663	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		-	150869348	CT	-	150869347	7	5	48	1	0	1	0	1	0	0	0	0	12607	797	28	0	548	0	PRRG3	23	150869347	Frame_Shift_Del	DEL	CT	TCGA-KN-8433-01A-11D-2310-10	8152477	150869347	4401213	249	4918											
FLNA	2316	mdanderson.org	37	chrX	153578045	153578045	+	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	ttggccttgaaggggctgccCccaatgtggtaggggccgcc	5	8	16	12	1	0	1	0	1	0	0	0	1	0	1	5	6	1	2	5	6	3	3			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:153578045C>T	ENST00000369850.3	-	46	7760	c.7524G>A	c.(7522-7524)ggG>ggA	p.G2508G	FLNA_ENST00000369856.3_Silent_p.G641G|FLNA_ENST00000344736.4_Silent_p.G2468G|FLNA_ENST00000422373.1_Silent_p.G2500G|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Silent_p.G2500G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2508					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)					AGGGGCTGCCCCCAATGTGGT	0.627																																						.											0													26	30	29					X																	153578045		1989	4143	6132	SO:0001819	synonymous_variant	2316			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.7524G>A	X.37:g.153578045C>T			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	153578045	C	T	153578045	2	4	48	1	0	0	0	0	0	0	0	1	5933	610	22	3		3	FLNA	23	153578045	Silent	SNP	C	TCGA-KN-8433-01A-11D-2310-10	2708698	153578045	1692515	250	4919											
F8	2157	mdanderson.org	37	chrX	154132764	154132764	+	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	gtgttagtgtggcagaccagAaggggtccaatcaggcctga	10	8	15	8	0	1	3	1	1	0	2	2	3	2	3	3	4	0	2	3	4	3	1			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:154132764A>G	ENST00000360256.4	-	17	5822	c.5622T>C	c.(5620-5622)ctT>ctC	p.L1874L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1874	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)	GGCAGACCAGAAGGGGTCCAA	0.463																																						.											0													161	135	144					X																	154132764		2203	4300	6503	SO:0001819	synonymous_variant	2157			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.5622T>C	X.37:g.154132764A>G			Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			G	154132764	A	G	154132764	2	3	48	1	0	0	0	0	0	0	0	1	5350	233	9	4		4	F8	23	154132764	Silent	SNP	A	TCGA-KN-8433-01A-11D-2310-10	554719	154132764	1137796	251	4920											
PEX10	5192	ucsc.edu	37	chr1	2341848	2341848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtaggccacatctgagAgcagctcaacctccttcctc	11	8	7	15	0	2	1	1	1	1	1	5	2	4	1	4	1	3	3	4	1	3	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr1:2341848A>G	ENST00000447513.2	-	2	223	c.155T>C	c.(154-156)cTc>cCc	p.L52P	PEX10_ENST00000288774.3_Missense_Mutation_p.L52P|PEX10_ENST00000515760.1_5'Flank|PEX10_ENST00000507596.1_Missense_Mutation_p.L52P	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	52					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CACATCTGAGAGCAGCTCAAC	0.592																																					GBM(12;9 508 1649 13619)	.											0													115	96	103					1																	2341848		2203	4300	6503	SO:0001583	missense	5192			AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.155T>C	1.37:g.2341848A>G	ENSP00000407922:p.Leu52Pro		B3KWD8|Q5T095|Q9BW90	Missense_Mutation	SNP	ENST00000447513.2	37	CCDS44045.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700056	0.68501	.	.	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	D;D;D	0.86366	-2.11;-2.11;-2.11	4.73	4.73	0.59995	Pex, N-terminal (1);	0.222000	0.39615	N	0.001309	D	0.93575	0.7949	M	0.88377	2.95	0.80722	D	1	D;P	0.71674	0.998;0.938	D;P	0.66716	0.946;0.876	D	0.94192	0.7442	10	0.54805	T	0.06	-0.1355	13.4134	0.60956	1.0:0.0:0.0:0.0	.	52;52	O60683;O60683-2	PEX10_HUMAN;.	P	52	ENSP00000288774:L52P;ENSP00000407922:L52P;ENSP00000424291:L52P	ENSP00000288774:L52P	L	-	2	0	PEX10	2331708	1.000000	0.71417	0.943000	0.38184	0.962000	0.63368	8.505000	0.90515	1.768000	0.52137	0.379000	0.24179	CTC		0.592	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		G	2341848	A	G	2341848	3	3	49	1	0	0	0	0	1	0	0	0	11736	304	11	2	905	2	PEX10	1	2341848	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10		2341848	246908773	1	4921											
GSTM5	2949	mdanderson.org	37	chr1	110256127	110256127	+	Missense_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	tgccctacttgattgatgggGctcacaagatcacccagagc	10	9	10	12	0	2	4	2	2	0	2	2	4	2	4	2	2	3	1	2	2	2	3	rs17854972	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr1:110256127G>A	ENST00000256593.3	+	4	257	c.199G>A	c.(199-201)Gct>Act	p.A67T	GSTM5_ENST00000369812.5_Missense_Mutation_p.A86T|GSTM5_ENST00000369813.1_Missense_Mutation_p.A26T	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	67	GST N-terminal.		A -> T (in dbSNP:rs17854972). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GATTGATGGGGCTCACAAGAT	0.592													G|||	201	0.0401358	0.0129	0.0548	5008	,	,		18809	0		0.0964	False		,,,				2504	0.0501					.											0								G	THR/ALA	113,4293	86.8+/-125.4	2,109,2092	298	231	254		199	-8.7	0	1	dbSNP_123	254	958,7642	209.0+/-250.3	54,850,3396	no	missense	GSTM5	NM_000851.3	58	56,959,5488	AA,AG,GG		11.1395,2.5647,8.2347	benign	67/219	110256127	1071,11935	2203	4300	6503	SO:0001583	missense	2949			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.199G>A	1.37:g.110256127G>A	ENSP00000256593:p.Ala67Thr		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	CCDS811.1	108	0.04945054945054945	7	0.014227642276422764	24	0.06629834254143646	0	0.0	77	0.10158311345646438	G	2.990	-0.208371	0.06180	0.025647	0.111395	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.41758	0.99;3.33;0.99	4.33	-8.66	0.00866	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.314056	0.27080	N	0.021026	T	0.03434	0.0099	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.12156	0.007;0.0	T	0.15492	-1.0435	10	0.37606	T	0.19	.	2.4536	0.04524	0.3627:0.2675:0.2738:0.096	rs17854972	26;67	Q5T8Q9;P46439	.;GSTM5_HUMAN	T	67;26;86	ENSP00000256593:A67T;ENSP00000358828:A26T;ENSP00000358827:A86T	ENSP00000256593:A67T	A	+	1	0	GSTM5	110057650	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.869000	0.04232	-2.436000	0.00553	-2.830000	0.00107	GCT		0.592	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		A	110256127	G	A	110256127	3	1	49	1	0	0	0	0	1	0	0	0	6841	1203	42	3	213	3	GSTM5	1	110256127	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	107914279	110256127	138994494	2	4922											
ADORA3	140	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	112029261	112029261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgcagcttctggttttGttgcctgataggtctgaatc	5	16	11	9	0	2	2	0	2	2	0	3	2	2	2	2	2	3	4	2	2	2	6			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr1:112029261G>T	ENST00000369716.4	-	4	952	c.819C>A	c.(817-819)aaC>aaA	p.N273K	ADORA3_ENST00000369717.4_Missense_Mutation_p.N192K	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TTCTGGTTTTGTTGCCTGATA	0.557																																						.											0													99	91	94					1																	112029261		2203	4300	6503	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.819C>A	1.37:g.112029261G>T	ENSP00000358730:p.Asn273Lys		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000369716.4	37	CCDS838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.98|10.98	1.505141|1.505141	0.26949|0.26949	.|.	.|.	ENSG00000121933|ENSG00000121933	ENST00000369717;ENST00000369716;ENST00000355437;ENST00000443498|ENST00000414219;ENST00000442484	T;T|.	0.54071|.	2.41;0.59|.	4.61|4.61	-1.37|-1.37	0.09056|0.09056	.|.	0.361223|.	0.23975|.	N|.	0.042737|.	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;B|.	0.24368|.	0.102;0.017|.	B;B|.	0.21151|.	0.033;0.009|.	T|T	0.33497|0.33497	-0.9866|-0.9866	10|5	0.72032|.	D|.	0.01|.	-9.9979|-9.9979	1.6911|1.6911	0.02852|0.02852	0.1896:0.3201:0.3425:0.1478|0.1896:0.3201:0.3425:0.1478	.|.	192;273|.	Q5QNY7;P33765-2|.	.;.|.	K|K	192;273;104;98|133;86	ENSP00000358731:N192K;ENSP00000358730:N273K|.	ENSP00000347612:N104K|.	N|T	-|-	3|2	2|0	ADORA3|ADORA3	111830784|111830784	0.003000|0.003000	0.15002|0.15002	0.004000|0.004000	0.12327|0.12327	0.381000|0.381000	0.30169|0.30169	0.086000|0.086000	0.14935|0.14935	-0.084000|-0.084000	0.12595|0.12595	0.561000|0.561000	0.74099|0.74099	AAC|ACA		0.557	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		T	112029261	G	T	112029261	3	4	49	1	0	0	0	0	1	0	0	0	329	1368	48	5	236	5	ADORA3	1	112029261	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	1773134	112029261	137221360	3	4923											
ZNF238	10472	ucsc.edu;bcgsc.ca	37	chr1	244218131	244218131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgaccccagagagcgAgcgtgtccaggtggagggag	10	5	18	8	2	0	3	0	2	0	1	1	8	1	5	3	3	2	0	3	3	0	0			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr1:244218131A>G	ENST00000358704.4	+	2	1204	c.1055A>G	c.(1054-1056)gAg>gGg	p.E352G		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	343	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)										CCAGAGAGCGAGCGTGTCCAG	0.632																																						.											0													73	65	68					1																	244218131		2203	4300	6503	SO:0001583	missense	10472			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.1055A>G	1.37:g.244218131A>G	ENSP00000351539:p.Glu352Gly		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158698	0.38119	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.14391	2.51	5.73	5.73	0.89815	.	0.053977	0.64402	D	0.000001	T	0.10380	0.0254	N	0.24115	0.695	0.80722	D	1	B;P	0.34934	0.345;0.476	B;B	0.36186	0.109;0.219	T	0.12091	-1.0561	10	0.07990	T	0.79	.	16.0181	0.80457	1.0:0.0:0.0:0.0	.	343;352	Q99592;Q99592-2	ZN238_HUMAN;.	G	352	ENSP00000351539:E352G	ENSP00000351539:E352G	E	+	2	0	ZNF238	242284754	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	7.508000	0.81686	2.195000	0.70347	0.528000	0.53228	GAG		0.632	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		G	244218131	A	G	244218131	3	3	49	1	0	0	0	0	1	0	0	0	17787	304	11	2	1061	2	ZNF238	1	244218131	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	132188870	244218131	5032490	4	4924											
BIRC6	57448	mdanderson.org	37	chr2	32641045	32641045	+	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	ttgagagagaaaaaacgtctGacatttctactcttggacac	14	11	8	8	1	3	3	0	2	3	2	3	6	3	4	0	1	2	0	0	1	4	4			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr2:32641045G>A	ENST00000421745.2	+	10	2820	c.2686G>A	c.(2686-2688)Gac>Aac	p.D896N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	896					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)					AAAAACGTCTGACATTTCTAC	0.403																																					Pancreas(94;175 1509 16028 18060 45422)	.											0													70	72	71					2																	32641045		2203	4300	6503	SO:0001583	missense	57448			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.2686G>A	2.37:g.32641045G>A	ENSP00000393596:p.Asp896Asn		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498920	0.44455	.	.	ENSG00000115760	ENST00000421745	T	0.63417	-0.04	5.76	4.83	0.62350	.	0.115184	0.56097	D	0.000021	T	0.51601	0.1684	L	0.29908	0.895	0.42755	D	0.99378	B	0.23058	0.079	B	0.18263	0.021	T	0.51076	-0.8751	10	0.49607	T	0.09	.	16.2927	0.82758	0.0:0.1322:0.8678:0.0	.	896	Q9NR09	BIRC6_HUMAN	N	896	ENSP00000393596:D896N	ENSP00000393596:D896N	D	+	1	0	BIRC6	32494549	1.000000	0.71417	0.996000	0.52242	0.866000	0.49608	4.791000	0.62460	2.726000	0.93360	0.655000	0.94253	GAC		0.403	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32641045	G	A	32641045	3	1	49	1	0	0	0	0	1	0	0	0	1438	1290	45	4	2724	4	BIRC6	2	32641045	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10		32641045	210558328	5	4925											
TBC1D5	9779	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	17413592	17413592	+	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	atatatctgtggtgcaatttCtagtctgttcaagtgcatgt	9	17	9	6	0	4	0	1	0	3	0	4	0	4	0	0	1	2	3	0	1	5	5			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:17413592C>T	ENST00000253692.7	-	13	2634	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	TBC1D5_ENST00000446818.2_Missense_Mutation_p.E324K|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.E276K|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E324K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	324	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GGTGCAATTTCTAGTCTGTTC	0.373																																						.											0													134	130	132					3																	17413592		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.970G>A	3.37:g.17413592C>T	ENSP00000253692:p.Glu324Lys		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811923	0.90707	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.79	5.79	0.91817	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	N	0.26092	0.79	0.80722	D	1	B;D;D	0.56521	0.096;0.974;0.976	B;P;D	0.67900	0.262;0.906;0.954	T	0.02625	-1.1132	10	0.44086	T	0.13	-15.2812	20.0332	0.97547	0.0:1.0:0.0:0.0	.	276;324;324	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	K	324;324;324;276	ENSP00000253692:E324K;ENSP00000398127:E324K;ENSP00000402935:E324K;ENSP00000411925:E276K	ENSP00000253692:E324K	E	-	1	0	TBC1D5	17388596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.749000	0.94314	0.491000	0.48974	GAA		0.373	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		T	17413592	C	T	17413592	3	4	49	1	0	0	0	0	1	0	0	0	15620	922	32	4	1527	4	TBC1D5	3	17413592	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10		17413592	180608838	6	4926											
SLC26A6	65010	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	48669762	48669762	+	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	gtctcattgatcatggagtcGttcaaggcctgcggggccag	7	10	14	10	2	3	1	3	1	1	0	5	2	3	2	2	4	1	1	2	4	1	2	rs146756914	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:48669762G>A	ENST00000395550.2	-	5	548	c.501C>T	c.(499-501)aaC>aaT	p.N167N	SLC26A6_ENST00000383733.3_Silent_p.N167N|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Intron|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000420764.2_Silent_p.N167N|SLC26A6_ENST00000358747.6_Silent_p.N146N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	167					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)		TCATGGAGTCGTTCAAGGCCT	0.592													G|||	6	0.00119808	0.0045	0	5008	,	,		20479	0		0	False		,,,				2504	0				NSCLC(13;369 479 28271 30152 44026)	.											0								G	,,,	1,4289		0,1,2144	56	62	60		438,501,501,501	-0.4	0	3	dbSNP_134	60	0,8476		0,0,4238	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC26A6	NM_001040454.1,NM_022911.2,NM_134263.2,NM_134426.2	,,,	0,1,6382	AA,AG,GG		0.0,0.0233,0.0078	,,,	146/739,167/760,167/759,167/741	48669762	1,12765	2145	4238	6383	SO:0001819	synonymous_variant	65010			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.501C>T	3.37:g.48669762G>A			B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	CCDS43087.1																																																																																				0.592	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		A	48669762	G	A	48669762	2	1	49	1	0	0	0	0	0	0	0	1	14521	1136	40	1		1	SLC26A6	3	48669762	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	31256170	48669762	149352668	7	4927											
SPCS1	28972	mdanderson.org	37	chr3	52740182	52740182	+	5'UTR	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	acgcgcagtgccagaccttaCccctcacggtccttaagtct	8	9	8	16	3	2	1	1	0	1	1	3	1	3	1	5	1	2	1	5	1	2	2	rs6617	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:52740182C>G	ENST00000602728.1	+	0	89				GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.P41A|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000423431.1_Intron|GLT8D1_ENST00000394783.3_5'Flank|GLT8D1_ENST00000478968.2_5'Flank			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)		CCAGACCTTACCCCTCACGGT	0.697													G|||	2230	0.445288	0.5575	0.5144	5008	,	,		13167	0.4286		0.4304	False		,,,				2504	0.2771					.											0													10	15	14					3																	52740182		687	1590	2277	SO:0001623	5_prime_UTR_variant	28972			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.-81C>G	3.37:g.52740182C>G			B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		1074	0.49175824175824173	273	0.5548780487804879	192	0.5303867403314917	280	0.48951048951048953	329	0.4340369393139842	G	1.062	-0.672572	0.03403	.	.	ENSG00000114902	ENST00000233025	.	.	.	3.96	-4.39	0.03611	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41716	-0.9493	7	0.02654	T	1	.	3.0659	0.06214	0.2759:0.4525:0.1602:0.1114	rs6617;rs1139798;rs3184127;rs17548630;rs6617	41	Q9Y6A9	SPCS1_HUMAN	A	41	.	ENSP00000233025:P41A	P	+	1	0	SPCS1	52715222	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-1.177000	0.02744	-0.127000	0.14921	CCC		0.697	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		G	52740182	C	G	52740182	1	3	49	0	1	0	0	0	0	0	0	0	15022	507	18	5		5	SPCS1	3	52740182	5'UTR	SNP	C	TCGA-KN-8434-01A-11D-2310-10	4070420	52740182	145282248	8	4928											
MASP1	5648	broad.mit.edu	37	chr3	186978580	186978581	+	Frame_Shift_Ins	INS	-	-	G																															tagccgaagcggcaggagcaINSgtagtagccgccaatgtagt																										TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:186978580_186978581insG	ENST00000337774.5	-	4	884_885	c.495_496insC	c.(493-498)tactgcfs	p.C166fs	MASP1_ENST00000392472.2_Frame_Shift_Ins_p.C53fs|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Frame_Shift_Ins_p.C166fs|MASP1_ENST00000392470.2_Frame_Shift_Ins_p.C140fs|MASP1_ENST00000169293.6_Frame_Shift_Ins_p.C166fs	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	166	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGGCAGGAGCAGTAGTAGCCGC	0.554																																						.											0																																										SO:0001589	frameshift_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.496dupC	3.37:g.186978581_186978581dupG	ENSP00000336792:p.Cys166fs		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Frame_Shift_Ins	INS	ENST00000337774.5	37	CCDS33907.1																																																																																				0.554	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		G	186978581	-	G	186978580	7	5	49	1	0	1	1	0	0	0	0	0	9322	188	7	0	2600	0	MASP1	3	186978580	Frame_Shift_Ins	INS	-	TCGA-KN-8434-01A-11D-2310-10	134238398	186978580	11043850	9	4929											
SENP5	205564	broad.mit.edu;hgsc.bcm.edu	37	chr3	196613140	196613142	+	In_Frame_Del	DEL	CTC	CTC	-																															ggaccagtcatcctgttcttCtcctaagtgggagtgtacag																										TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:196613140_196613142delCTC	ENST00000323460.5	+	2	1337_1339	c.1088_1090delCTC	c.(1087-1092)tctcct>tct	p.P364del	SENP5_ENST00000445299.2_In_Frame_Del_p.P364del|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	364					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TCCTGTTCTTCTCCTAAGTGGGA	0.453																																					Ovarian(47;891 1095 11174 13858 51271)	.											0																																										SO:0001651	inframe_deletion	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1088_1090delCTC	3.37:g.196613140_196613142delCTC	ENSP00000327197:p.Pro364del		B4DY82|Q96SA5	In_Frame_Del	DEL	ENST00000323460.5	37	CCDS3322.1																																																																																				0.453	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		-	196613142	CTC	-	196613140	7	5	49	1	0	1	0	1	0	0	0	0	14049	913	32	0	1090	0	SENP5	3	196613140	In_Frame_Del	DEL	CTC	TCGA-KN-8434-01A-11D-2310-10	9634560	196613140	1409290	10	4930	122	2									
SENP5	205564	bcgsc.ca	37	chr3	196613141	196613143	+	In_Frame_Del	DEL	CTC	CTC	-																															gaccagtcatcctgttcttcTcctaagtgggagtgtacaga																										TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:196613141_196613143delCTC	ENST00000323460.5	+	2	1338_1340	c.1089_1091delCTC	c.(1087-1092)tcctct>tct	p.363_364SS>S	SENP5_ENST00000445299.2_In_Frame_Del_p.363_364SS>S|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	363					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CCTGTTCTTCTCCTAAGTGGGAG	0.453																																					Ovarian(47;891 1095 11174 13858 51271)	.											0																																										SO:0001651	inframe_deletion	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1089_1091delCTC	3.37:g.196613141_196613143delCTC	ENSP00000327197:p.Ser363del		B4DY82|Q96SA5	In_Frame_Del	DEL	ENST00000323460.5	37	CCDS3322.1																																																																																				0.453	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		-	196613143	CTC	-	196613141	7	5	49	1	0	1	0	1	0	0	0	0	14049	1538	54	0	1091	0	SENP5	3	196613141	In_Frame_Del	DEL	CTC	TCGA-KN-8434-01A-11D-2310-10	1	196613141	1409289	11	4931	122	2									
NAP1L5	266812	mdanderson.org	37	chr4	89618837	89618837	+	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	ccttccgccattacctcctcTgccgctgcctccgccgctgc	2	10	7	22	4	1	0	0	0	1	0	4	0	4	0	9	0	4	2	9	0	1	2	rs710834	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr4:89618837T>C	ENST00000323061.5	-	1	549	c.69A>G	c.(67-69)gcA>gcG	p.A23A	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	23	Poly-Ala.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		ttacctcctctgccgctgcct	0.682													C|||	2787	0.55651	0.7292	0.3588	5008	,	,		11493	0.5516		0.3678	False		,,,				2504	0.6626					.											0								C	,	2661,1617		892,877,370	13	17	16		,69	-1.3	0	4	dbSNP_86	16	2912,5504		568,1776,1864	no	intron,coding-synonymous	HERC3,NAP1L5	NM_014606.1,NM_153757.2	,	1460,2653,2234	CC,CT,TT		34.6008,37.798,43.9026	,	,23/183	89618837	5573,7121	2139	4208	6347	SO:0001819	synonymous_variant	266812			NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.69A>G	4.37:g.89618837T>C				Silent	SNP	ENST00000323061.5	37	CCDS3632.1																																																																																				0.682	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		C	89618837	T	C	89618837	2	2	49	1	0	0	0	0	0	0	0	1	10160	1567	55	2		2	NAP1L5	4	89618837	Silent	SNP	T	TCGA-KN-8434-01A-11D-2310-10		89618837	101535439	12	4932											
DDX60	55601	broad.mit.edu	37	chr4	169196590	169196590	+	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	ccatgtattgcagttggaacCgagctggcccaatgccaact	10	9	10	12	1	0	0	0	0	0	0	0	2	0	1	4	2	5	4	4	2	4	3	rs574811561		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr4:169196590C>T	ENST00000393743.3	-	16	2501	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	737					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)	p.R737Q(2)		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)		CAGTTGGAACCGAGCTGGCCC	0.393													C|||	1	0.000199681	8e-04	0	5008	,	,		15607	0		0	False		,,,				2504	0					.											2	Substitution - Missense(2)	endometrium(2)											101	98	99					4																	169196590		2203	4300	6503	SO:0001583	missense	55601			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.2210G>A	4.37:g.169196590C>T	ENSP00000377344:p.Arg737Gln		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717358	0.68844	.	.	ENSG00000137628	ENST00000393743	T	0.18174	2.23	5.37	3.65	0.41850	.	0.102711	0.43110	N	0.000614	T	0.28665	0.0710	L	0.32530	0.975	0.29601	N	0.847719	D	0.89917	1.0	D	0.87578	0.998	T	0.06303	-1.0834	10	0.40728	T	0.16	.	12.3977	0.55395	0.0:0.8661:0.0:0.1339	.	737	Q8IY21	DDX60_HUMAN	Q	737	ENSP00000377344:R737Q	ENSP00000377344:R737Q	R	-	2	0	DDX60	169433165	0.980000	0.34600	0.431000	0.26735	0.718000	0.41266	2.491000	0.45303	0.748000	0.32831	0.563000	0.77884	CGG		0.393	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		T	169196590	C	T	169196590	3	4	49	1	0	0	0	0	1	0	0	0	4378	652	23	1	3020	1	DDX60	4	169196590	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	79577753	169196590	21957686	13	4933											
ODZ3	55714	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	183594221	183594221	+	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	cggagaacttgatattggccGaagagcaattcaagagattc	14	9	11	7	2	1	4	1	1	0	3	2	7	1	4	1	2	2	1	1	2	5	5	rs544403548		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr4:183594221G>A	ENST00000511685.1	+	7	1298	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R392Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	392					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)										GATATTGGCCGAAGAGCAATT	0.388													G|||	1	0.000199681	0	0	5008	,	,		15262	0.001		0	False		,,,				2504	0					.											0													42	40	40					4																	183594221		1809	4078	5887	SO:0001583	missense	55714			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.1175G>A	4.37:g.183594221G>A	ENSP00000424226:p.Arg392Gln		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819612	0.50633	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.19806	2.12;2.12	5.04	5.04	0.67666	.	.	.	.	.	T	0.11067	0.0270	N	0.20574	0.59	0.47214	D	0.999354	P	0.43352	0.804	B	0.25614	0.062	T	0.21793	-1.0235	9	0.12103	T	0.63	.	19.0138	0.92886	0.0:0.0:1.0:0.0	.	392	Q9P273	TEN3_HUMAN	Q	392	ENSP00000424226:R392Q;ENSP00000385276:R392Q	ENSP00000385276:R392Q	R	+	2	0	ODZ3	183831215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.250000	0.78287	2.789000	0.95967	0.650000	0.86243	CGA		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183594221	G	A	183594221	3	1	49	1	0	0	0	0	1	0	0	0	10836	1058	37	1	1197	1	ODZ3	4	183594221	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	14397631	183594221	7560055	14	4934											
SPINK5	11005	broad.mit.edu	37	chr5	147499644	147499644	+	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	ctcgagaaagtgaccctgtcCggggtccagatggcaagaca	11	6	13	11	2	0	4	0	1	0	3	3	5	2	4	3	3	0	1	3	3	2	0			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr5:147499644C>T	ENST00000256084.7	+	25	2428	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	SPINK5_ENST00000359874.3_Missense_Mutation_p.R796W|SPINK5_ENST00000398454.1_Missense_Mutation_p.R796W	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	796	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCTGTCCGGGGTCCAGA	0.388																																						.											0													88	78	81					5																	147499644		1850	4100	5950	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2386C>T	5.37:g.147499644C>T	ENSP00000256084:p.Arg796Trp		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889670	0.72524	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.56	4.67	0.58626	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.155191	0.30473	N	0.009556	T	0.20455	0.0492	M	0.77616	2.38	0.30017	N	0.814676	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	T	0.03483	-1.1032	10	0.62326	D	0.03	-6.0089	12.0016	0.53235	0.1729:0.8271:0.0:0.0	.	777;796;796;796	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	W	796;796;777;796	ENSP00000381472:R796W;ENSP00000352936:R796W;ENSP00000421519:R777W;ENSP00000256084:R796W	ENSP00000256084:R796W	R	+	1	2	SPINK5	147479837	0.002000	0.14202	0.943000	0.38184	0.986000	0.74619	0.698000	0.25571	1.455000	0.47813	0.557000	0.71058	CGG		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		T	147499644	C	T	147499644	3	4	49	1	0	0	0	0	1	0	0	0	15061	643	23	1	2484	1	SPINK5	5	147499644	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10		147499644	33415616	15	4935											
GABRA1	2554	ucsc.edu	37	chr5	161324123	161324123	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttctacagccaaagAaagtaaaggatcctcttatt	13	14	5	9	0	3	1	0	0	3	1	4	2	4	2	2	1	2	1	2	1	6	6			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr5:161324123A>G	ENST00000428797.2	+	11	1421	c.1066A>G	c.(1066-1068)Aaa>Gaa	p.K356E	GABRA1_ENST00000393943.4_Missense_Mutation_p.K356E|GABRA1_ENST00000444819.1_Missense_Mutation_p.K356E|GABRA1_ENST00000420560.1_Missense_Mutation_p.K356E|GABRA1_ENST00000437025.2_Missense_Mutation_p.K356E|GABRA1_ENST00000023897.6_Missense_Mutation_p.K356E	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	356					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)	ACAGCCAAAGAAAGTAAAGGA	0.433																																						.											0													79	91	87					5																	161324123		2203	4300	6503	SO:0001583	missense	2554				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.1066A>G	5.37:g.161324123A>G	ENSP00000393097:p.Lys356Glu		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316873	0.60524	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.81922	0.4925	L	0.42744	1.35	0.80722	D	1	P	0.40000	0.698	P	0.46510	0.519	T	0.78981	-0.1989	10	0.22706	T	0.39	.	15.5691	0.76320	1.0:0.0:0.0:0.0	.	356	P14867	GBRA1_HUMAN	E	356	ENSP00000023897:K356E;ENSP00000393097:K356E;ENSP00000377517:K356E;ENSP00000415441:K356E;ENSP00000408041:K356E;ENSP00000414232:K356E	ENSP00000023897:K356E	K	+	1	0	GABRA1	161256701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.850000	0.92190	2.134000	0.65973	0.460000	0.39030	AAA		0.433	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		G	161324123	A	G	161324123	3	3	49	1	0	0	0	0	1	0	0	0	6160	247	9	4	1100	4	GABRA1	5	161324123	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	13824479	161324123	19591137	16	4936											
FOXI1	2299	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr5	169533097	169533097	+	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	agggcgtgcccagccctcagCggccctccttcgaggggggc	4	5	16	16	3	1	0	1	0	0	0	3	1	2	0	4	5	3	0	4	5	0	1			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr5:169533097C>T	ENST00000306268.6	+	1	197	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	FOXI1_ENST00000449804.2_Missense_Mutation_p.R46W			Q12951	FOXI1_HUMAN	forkhead box I1	46	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription regulatory region DNA binding (GO:0044212)	p.R46W(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCCTCAGCGGCCCTCCTT	0.687									Pendred syndrome																													.											1	Substitution - Missense(1)	lung(1)											20	22	21					5																	169533097		2201	4298	6499	SO:0001583	missense	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.136C>T	5.37:g.169533097C>T	ENSP00000304286:p.Arg46Trp		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488446	0.64074	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94897	-3.47;-3.55	4.5	3.63	0.41609	.	0.068553	0.64402	D	0.000010	D	0.96892	0.8985	M	0.83384	2.64	0.49299	D	0.999779	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.96308	0.9226	10	0.49607	T	0.09	.	12.5348	0.56137	0.3021:0.6979:0.0:0.0	.	46;46	Q12951-2;Q12951	.;FOXI1_HUMAN	W	46	ENSP00000304286:R46W;ENSP00000415483:R46W	ENSP00000304286:R46W	R	+	1	2	FOXI1	169465675	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.119000	0.31258	0.882000	0.36016	-0.448000	0.05591	CGG		0.687	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		T	169533097	C	T	169533097	3	4	49	1	0	0	0	0	1	0	0	0	6009	759	27	1	138	1	FOXI1	5	169533097	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	8208974	169533097	11382163	17	4937											
DST	667	hgsc.bcm.edu	37	chr6	56335065	56335065	+	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	caactgcgctcatctccaagCgactggttggaaactctaaa	12	9	8	12	2	3	0	1	0	2	0	4	2	3	1	1	2	4	2	1	2	5	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr6:56335065C>T	ENST00000361203.3	-	91	21384	c.21377G>A	c.(21376-21378)cGc>cAc	p.R7126H	DST_ENST00000370769.4_Missense_Mutation_p.R7237H|DST_ENST00000370788.2_Missense_Mutation_p.R5040H|DST_ENST00000244364.6_Missense_Mutation_p.R4823H|DST_ENST00000446842.2_Missense_Mutation_p.R6911H|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.R7415H|DST_ENST00000421834.2_Missense_Mutation_p.R5122H			Q03001	DYST_HUMAN	dystonin	7235					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)			CATCTCCAAGCGACTGGTTGG	0.388																																						.											0													53	48	49					6																	56335065		1867	4109	5976	SO:0001583	missense	667			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.21377G>A	6.37:g.56335065C>T	ENSP00000354508:p.Arg7126His		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	19.34	3.809386	0.70797	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.26	5.26	0.73747	EF-hand-like domain (1);	0.000000	0.46758	D	0.000265	T	0.79370	0.4434	L	0.53249	1.67	0.33897	D	0.638007	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;0.984;0.983	T	0.80603	-0.1309	9	0.72032	D	0.01	.	19.2223	0.93803	0.0:1.0:0.0:0.0	.	5122;7237;7415;7235;4823	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	4823;7415;7237;5122;6911;5040;7126	ENSP00000244364:R4823H;ENSP00000359790:R7415H;ENSP00000359805:R7237H;ENSP00000400883:R5122H;ENSP00000393645:R6911H;ENSP00000359824:R5040H;ENSP00000354508:R7126H	ENSP00000244364:R4823H	R	-	2	0	DST	56443024	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.750000	0.85110	2.620000	0.88729	0.655000	0.94253	CGC		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56335065	C	T	56335065	3	4	49	1	0	0	0	0	1	0	0	0	4783	768	27	1	1079	1	DST	6	56335065	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10		56335065	114780002	18	4938											
HINT3	135114	ucsc.edu	37	chr6	126288134	126288134	+	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	aactgcagaactctaaggaaAgatcaagtagaactgggtaa	18	7	10	6	0	2	3	1	0	1	3	2	4	2	4	0	2	4	3	0	2	8	3			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr6:126288134A>G	ENST00000229633.5	+	2	500	c.303A>G	c.(301-303)aaA>aaG	p.K101K		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	101	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CTCTAAGGAAAGATCAAGTAG	0.363																																						.											0													129	120	123					6																	126288134		2203	4300	6503	SO:0001819	synonymous_variant	135114			AK057688	CCDS5133.1	6q22.33	2007-12-04			ENSG00000111911	ENSG00000111911			18468	protein-coding gene	gene with protein product		609998				11805111	Standard	NM_138571		Approved	FLJ33126	uc003qal.4	Q9NQE9	OTTHUMG00000015514	ENST00000229633.5:c.303A>G	6.37:g.126288134A>G			B3KQ91|Q8N0Y9	Silent	SNP	ENST00000229633.5	37	CCDS5133.1																																																																																				0.363	HINT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042090.1	NM_138571		G	126288134	A	G	126288134	2	3	49	1	0	0	0	0	0	0	0	1	7113	69	3	2		2	HINT3	6	126288134	Silent	SNP	A	TCGA-KN-8434-01A-11D-2310-10	69953069	126288134	44826933	19	4939											
RAET1G	353091	mdanderson.org	37	chr6	150240697	150240697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaaacttacccttgggtAtgtaattctccagctgaatg	10	14	8	9	0	2	2	0	2	2	0	3	2	2	2	2	1	3	3	2	1	5	5	rs571396556	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr6:150240697A>G	ENST00000367360.2	-	2	408	c.341T>C	c.(340-342)aTa>aCa	p.I114T	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.I114T	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		ACCCTTGGGTATGTAATTCTC	0.448													N|||	2	0.000399361	0	0	5008	,	,		23706	0		0	False		,,,				2504	0.002					.											0													235	228	231					6																	150240697		2203	4300	6503	SO:0001583	missense	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.341T>C	6.37:g.150240697A>G	ENSP00000356329:p.Ile114Thr			Missense_Mutation	SNP	ENST00000367360.2	37	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.500490	0.00157	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00662	5.93;5.93	2.4	-2.21	0.06973	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	0.00109	0.0003	N	0.05574	-0.02	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.28902	-1.0029	9	0.13470	T	0.59	.	0.432	0.00472	0.2687:0.1947:0.3388:0.1979	.	114	Q6H3X3	RET1G_HUMAN	T	114	ENSP00000356329:I114T;ENSP00000417503:I114T	ENSP00000356329:I114T	I	-	2	0	RAET1G	150282390	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.381000	0.02549	-0.582000	0.05929	-0.343000	0.07986	ATA		0.448	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			G	150240697	A	G	150240697	3	3	49	1	0	0	0	0	1	0	0	0	13000	449	16	4	679	4	RAET1G	6	150240697	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	23952563	150240697	20874370	20	4940											
AUTS2	26053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr7	70231281	70231281	+	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	acgccgttcccccacgccatCccacccaccgccatcatgcc	7	5	5	24	4	1	0	1	0	0	0	3	0	3	0	9	0	1	1	9	0	0	1	rs374492620		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:70231281C>T	ENST00000342771.4	+	9	1971	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	AUTS2_ENST00000406775.2_Silent_p.I550I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	550										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)		CCCACGCCATCCCACCCACCG	0.612																																						.											0								C	,	0,4406		0,0,2203	247	225	233		1650,1650	3.8	1	7		233	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AUTS2	NM_001127231.1,NM_015570.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	550/1236,550/1260	70231281	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26053			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.1650C>T	7.37:g.70231281C>T			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364219	0.24684	0.0	1.16E-4	ENSG00000158321	ENST00000443672	.	.	.	5.56	3.76	0.43208	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57843	-0.7741	4	.	.	.	-15.7907	11.2114	0.48802	0.0:0.8031:0.1282:0.0686	.	.	.	.	F	92	.	.	S	+	2	0	AUTS2	69869217	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	4.034000	0.57289	0.715000	0.32103	0.561000	0.74099	TCC		0.612	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			T	70231281	C	T	70231281	2	4	49	1	0	0	0	0	0	0	0	1	1225	845	30	3		3	AUTS2	7	70231281	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10		70231281	88907382	21	4941											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	82544701	82544701	+	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	ttgaataggtgaaaattttgAcattttagggtcaattagtg	13	16	10	2	0	1	3	1	3	0	0	1	3	1	3	0	2	0	0	0	2	7	7			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:82544701A>T	ENST00000333891.9	-	7	12938	c.12601T>A	c.(12601-12603)Tca>Aca	p.S4201T	PCLO_ENST00000437081.1_Missense_Mutation_p.S921T|PCLO_ENST00000423517.2_Missense_Mutation_p.S4201T	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						GAAAATTTTGACATTTTAGGG	0.378																																						.											0													74	65	68					7																	82544701		1857	4093	5950	SO:0001583	missense	27445			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.12601T>A	7.37:g.82544701A>T	ENSP00000334319:p.Ser4201Thr			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	8.038	0.763172	0.15914	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.27557	1.66;1.67	5.79	5.79	0.91817	.	.	.	.	.	T	0.24431	0.0592	L	0.31926	0.97	0.29450	N	0.8585	B;B;B	0.24258	0.003;0.1;0.1	B;B;B	0.23574	0.004;0.047;0.047	T	0.15809	-1.0424	9	0.87932	D	0	.	7.9552	0.30038	0.7289:0.1302:0.0:0.1408	.	4132;4201;4201	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	4201;4201;921	ENSP00000334319:S4201T;ENSP00000388393:S4201T	ENSP00000334319:S4201T	S	-	1	0	PCLO	82382637	0.475000	0.25894	1.000000	0.80357	0.991000	0.79684	1.033000	0.30191	2.216000	0.71823	0.377000	0.23210	TCA		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82544701	A	T	82544701	3	4	49	1	0	0	0	0	1	0	0	0	11583	275	10	5	2920	5	PCLO	7	82544701	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	12313420	82544701	76593962	22	4942											
SLC26A5	375611	bcgsc.ca	37	chr7	103038430	103038430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtatgattctttcaagttaAacccagctgaaatgccagtt	12	14	7	8	0	2	2	1	2	1	0	2	2	2	2	2	0	3	4	2	0	5	5			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:103038430A>G	ENST00000306312.3	-	9	1181	c.920T>C	c.(919-921)tTt>tCt	p.F307S	SLC26A5_ENST00000393730.1_Missense_Mutation_p.F307S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.F270S|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Missense_Mutation_p.F307S|SLC26A5_ENST00000339444.6_Missense_Mutation_p.F307S|SLC26A5_ENST00000393723.1_Missense_Mutation_p.F307S|SLC26A5_ENST00000393735.2_Missense_Mutation_p.F307S|SLC26A5_ENST00000393727.1_Missense_Mutation_p.F307S|SLC26A5_ENST00000356767.4_Missense_Mutation_p.F307S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	307					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTTCAAGTTAAACCCAGCTGA	0.373																																						.											0													152	135	141					7																	103038430		2203	4300	6503	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.920T>C	7.37:g.103038430A>G	ENSP00000304783:p.Phe307Ser		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.785153	0.49997	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;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;-3.22	5.87	4.72	0.59763	Sulphate transporter (1);	0.303544	0.37715	N	0.001965	D	0.89451	0.6719	L	0.31371	0.925	0.80722	D	1	B;P;B;P;P	0.47106	0.063;0.85;0.101;0.813;0.89	B;P;B;B;B	0.45276	0.145;0.475;0.089;0.262;0.262	D	0.87374	0.2352	10	0.34782	T	0.22	.	11.8608	0.52465	0.9312:0.0:0.0688:0.0	.	307;307;307;307;307	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	S	307;307;307;307;307;307;270;307;307	ENSP00000342396:F307S;ENSP00000349210:F307S;ENSP00000377336:F307S;ENSP00000304783:F307S;ENSP00000377331:F307S;ENSP00000389733:F307S;ENSP00000377330:F270S;ENSP00000377328:F307S;ENSP00000377324:F307S	ENSP00000304783:F307S	F	-	2	0	SLC26A5	102825666	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	7.257000	0.78362	1.156000	0.42514	-0.256000	0.11100	TTT		0.373	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		G	103038430	A	G	103038430	3	3	49	1	0	0	0	0	1	0	0	0	14520	14	1	4	1403	4	SLC26A5	7	103038430	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	20493729	103038430	56100233	23	4943											
ZYX	7791	hgsc.bcm.edu	37	chr7	143078856	143078856	+	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	ggccgggtgggcgagattccCccgccgcccccggaaggtat	5	5	16	15	5	0	1	0	0	0	1	1	3	1	2	6	5	0	1	6	5	2	2	rs371579974		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:143078856C>T	ENST00000322764.5	+	2	537	c.192C>T	c.(190-192)ccC>ccT	p.P64P	ZYX_ENST00000392910.2_5'Flank|ZYX_ENST00000449423.2_Silent_p.P8P|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	64	Pro-rich.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCGAGATTCCCCCGCCGCCCC	0.706																																						.											0								C	,	0,3432		0,0,1716	3	4	3		192,192	0.4	1	7		3	4,7292		0,4,3644	no	coding-synonymous,coding-synonymous	ZYX	NM_001010972.1,NM_003461.4	,	0,4,5360	TT,TC,CC		0.0548,0.0,0.0373	,	64/573,64/573	143078856	4,10724	1716	3648	5364	SO:0001819	synonymous_variant	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.192C>T	7.37:g.143078856C>T			A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	CCDS5883.1																																																																																				0.706	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		T	143078856	C	T	143078856	2	4	49	1	0	0	0	0	0	0	0	1	18251	610	22	3		3	ZYX	7	143078856	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10	40040426	143078856	16059807	24	4944											
C9orf131	138724	hgsc.bcm.edu;ucsc.edu	37	chr9	35044753	35044753	+	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	gaacttgtgtggagaaatgtGcaacaaagagaagttcccca	15	8	11	7	0	0	2	0	0	0	2	1	5	1	2	2	1	3	2	2	1	5	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:35044753G>A	ENST00000312292.5	+	2	2174	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.V636V|C9orf131_ENST00000421362.2_Silent_p.V661V	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	709										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAGAAATGTGCAACAAAGAG	0.552																																						.											0													62	60	61					9																	35044753		2203	4300	6503	SO:0001819	synonymous_variant	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2127G>A	9.37:g.35044753G>A			A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	CCDS6572.2																																																																																				0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		A	35044753	G	A	35044753	2	1	49	1	0	0	0	0	0	0	0	1	2457	1306	46	4		4	C9orf131	9	35044753	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10		35044753	106168678	25	4945											
PRUNE2	158471	broad.mit.edu	37	chr9	79320843	79320843	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaggtgcttctcagtcTcttgctttgcttcagaatcg	6	15	9	11	1	3	2	2	1	2	1	6	2	3	2	0	1	3	3	0	1	1	4			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:79320843T>C	ENST00000376718.3	-	8	6470	c.6347A>G	c.(6346-6348)gAg>gGg	p.E2116G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1757G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2116					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						CTTCTCAGTCTCTTGCTTTGC	0.483																																						.											0													175	161	165					9																	79320843		1568	3582	5150	SO:0001583	missense	158471			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.6347A>G	9.37:g.79320843T>C	ENSP00000365908:p.Glu2116Gly		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	7.829	0.719415	0.15372	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.50813	0.73;0.73	6.03	4.86	0.63082	.	0.622455	0.15290	N	0.270184	T	0.47021	0.1423	L	0.59436	1.845	0.25993	N	0.982217	B	0.21821	0.061	B	0.23275	0.045	T	0.45116	-0.9283	10	0.66056	D	0.02	-1.7704	12.6433	0.56721	0.0:0.0:0.4297:0.5703	.	2116	Q8WUY3	PRUN2_HUMAN	G	2116;1757;2115	ENSP00000365908:E2116G;ENSP00000397425:E1757G	ENSP00000365908:E2116G	E	-	2	0	PRUNE2	78510663	0.957000	0.32711	0.389000	0.26208	0.007000	0.05969	2.009000	0.40903	1.047000	0.40274	0.533000	0.62120	GAG		0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79320843	T	C	79320843	3	2	49	1	0	0	0	0	1	0	0	0	12641	1551	54	2	2967	2	PRUNE2	9	79320843	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10	44276090	79320843	61892588	26	4946											
TMEFF1	8577	mdanderson.org	37	chr9	103235853	103235853	+	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	gccgcagccgctgaggcgccGctccggctgcctgccgcgcc	2	4	15	20	7	0	1	0	1	0	0	1	1	1	1	7	2	3	4	7	2	0	0	rs77849433	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:103235853G>T	ENST00000374879.4	+	1	459	c.27G>T	c.(25-27)ccG>ccT	p.P9P	MSANTD3-TMEFF1_ENST00000502978.1_Intron|TMEFF1_ENST00000334943.6_Intron	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	9					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTGAGGCGCCGCTCCGGCTGC	0.751													G|||	400	0.0798722	0.0877	0.1138	5008	,	,		7642	0.001		0.1292	False		,,,				2504	0.0757					.											0								G	,	360,3810		24,312,1749	5	6	5		,27	3.1	1	9	dbSNP_131	5	1088,7026		89,910,3058	no	intron,coding-synonymous	TMEFF1,C9orf30-TMEFF1	NM_001198812.1,NM_003692.4	,	113,1222,4807	TT,TG,GG		13.4089,8.6331,11.7877	,	,9/381	103235853	1448,10836	2085	4057	6142	SO:0001819	synonymous_variant	8577			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"tomoregulin-1", "cancer/testis antigen family 120, member 1"	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.27G>T	9.37:g.103235853G>T			Q13086|Q8N3T8	Silent	SNP	ENST00000374879.4	37	CCDS6750.1																																																																																				0.751	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		T	103235853	G	T	103235853	2	4	49	1	0	0	0	0	0	0	0	1	16010	1074	38	5		5	TMEFF1	9	103235853	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	23915010	103235853	37977578	27	4947											
TBC1D13	54662	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	131565713	131565713	+	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	gcccctctactacacctttgCcaccgaccccaatagtgagt	9	9	6	17	1	1	1	0	1	1	0	1	2	1	1	7	0	3	0	7	0	4	4			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:131565713C>T	ENST00000372648.5	+	8	878	c.728C>T	c.(727-729)gCc>gTc	p.A243V	TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Missense_Mutation_p.A62V	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	243	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TACACCTTTGCCACCGACCCC	0.567																																						.											0													95	77	83					9																	131565713		2203	4300	6503	SO:0001583	missense	54662			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.728C>T	9.37:g.131565713C>T	ENSP00000361731:p.Ala243Val		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348749	0.95807	.	.	ENSG00000107021	ENST00000372648;ENST00000539497	T;T	0.11821	2.74;2.74	5.66	5.66	0.87406	Rab-GAP/TBC domain (4);	0.112447	0.64402	N	0.000012	T	0.39886	0.1095	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.13764	-1.0497	10	0.59425	D	0.04	-24.402	18.7486	0.91804	0.0:1.0:0.0:0.0	.	243	Q9NVG8	TBC13_HUMAN	V	243;62	ENSP00000361731:A243V;ENSP00000437751:A62V	ENSP00000361731:A243V	A	+	2	0	TBC1D13	130605534	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.870000	0.69620	2.675000	0.91044	0.655000	0.94253	GCC		0.567	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		T	131565713	C	T	131565713	3	4	49	1	0	0	0	0	1	0	0	0	15599	739	26	3	758	3	TBC1D13	9	131565713	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	28329860	131565713	9647718	28	4948											
VENTX	27287	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	135051543	135051543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgccgacttctcccTggggagcctccctggcccag	4	7	12	18	1	1	0	0	0	1	0	3	2	2	1	6	4	2	0	6	4	0	1	rs2240892	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr10:135051543T>C	ENST00000325980.9	+	1	636	c.125T>C	c.(124-126)cTg>cCg	p.L42P		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	42			L -> P (in dbSNP:rs2240892). {ECO:0000269|PubMed:15489334}.		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)		GACTTCTCCCTGGGGAGCCTC	0.716													T|||	1221	0.24381	0.2943	0.1859	5008	,	,		12549	0.376		0.1123	False		,,,				2504	0.2157					.											0								T	PRO/LEU	737,3379		49,639,1370	5	7	6		125	-2.4	0	10	dbSNP_98	6	776,7542		42,692,3425	no	missense	VENTX	NM_014468.2	98	91,1331,4795	CC,CT,TT		9.3292,17.9057,12.1682	benign	42/259	135051543	1513,10921	2058	4159	6217	SO:0001583	missense	27287			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.125T>C	10.37:g.135051543T>C	ENSP00000357556:p.Leu42Pro		Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	CCDS7675.1	489	0.2239010989010989	143	0.29065040650406504	71	0.19613259668508287	190	0.3321678321678322	85	0.11213720316622691	T	2.856	-0.237276	0.05944	0.179057	0.093292	ENSG00000151650	ENST00000325980	T	0.43294	0.95	1.78	-2.36	0.06663	.	1.462090	0.04704	N	0.416452	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	9	0.33940	T	0.23	.	0.8221	0.01113	0.1484:0.1943:0.2644:0.393	rs2240892;rs60200993;rs2240892	42	O95231	VENTX_HUMAN	P	42	ENSP00000357556:L42P	ENSP00000357556:L42P	L	+	2	0	VENTX	134901533	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.183000	0.09712	-0.933000	0.03737	-1.572000	0.00871	CTG		0.716	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		C	135051543	T	C	135051543	3	2	49	1	0	0	0	0	1	0	0	0	17150	1580	55	2	127	2	VENTX	10	135051543	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		135051543	483204	29	4949											
MUC6	4588	broad.mit.edu	37	chr11	1018714	1018714	+	Missense_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	ggtgcttgctggggttggacGtgggcctgtcgtctgggtgg	1	12	21	7	2	1	0	0	0	1	0	2	1	1	1	1	7	2	3	1	7	0	2	rs371302246		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:1018714G>A	ENST00000421673.2	-	31	4137	c.4087C>T	c.(4087-4089)Cgt>Tgt	p.R1363C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1363	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)		GGGGTTGGACGTGGGCCTGTC	0.542																																						.											0									CYS/ARG	0,4370		0,0,2185	191	207	201		4087	1.4	0	11		201	1,8557		0,1,4278	no	missense	MUC6	NM_005961.2	180	0,1,6463	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	1363/2440	1018714	1,12927	2185	4279	6464	SO:0001583	missense	4588			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.4087C>T	11.37:g.1018714G>A	ENSP00000406861:p.Arg1363Cys		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	g	8.824	0.938199	0.18206	0.0	1.17E-4	ENSG00000184956	ENST00000421673	T	0.20069	2.1	1.39	1.39	0.22231	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	P	0.43477	0.808	B	0.20955	0.032	T	0.21109	-1.0255	9	0.52906	T	0.07	.	4.8411	0.13491	0.0:0.0:0.639:0.361	.	1363	Q6W4X9	MUC6_HUMAN	C	1363	ENSP00000406861:R1363C	ENSP00000406861:R1363C	R	-	1	0	MUC6	1008714	0.000000	0.05858	0.006000	0.13384	0.187000	0.23431	-3.997000	0.00317	1.103000	0.41568	0.298000	0.19748	CGT		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018714	G	A	1018714	3	1	49	1	0	0	0	0	1	0	0	0	9980	1145	40	1	3244	1	MUC6	11	1018714	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10		1018714	133987802	30	4950											
MRGPRE	116534	mdanderson.org	37	chr11	3249552	3249552	+	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	gaagaactgggtgcaggcgcCgctgagcagcaggtgcagca	10	4	17	10	2	0	2	0	1	0	1	0	3	0	2	1	3	6	6	1	3	2	0	rs4391795	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:3249552C>T	ENST00000389832.5	-	2	784	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.G159S			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	160			G -> S (in dbSNP:rs4391795).			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)		GTGCAGGCGCCGCTGAGCAGC	0.692													C|||	1467	0.292931	0.0953	0.2392	5008	,	,		13177	0.378		0.4523	False		,,,				2504	0.3466					.											0								C	SER/GLY	481,3647		34,413,1617	5	9	8		475	0.8	0	11	dbSNP_111	8	3172,5086		621,1930,1578	yes	missense	MRGPRE	NM_001039165.2	56	655,2343,3195	TT,TC,CC		38.4112,11.6521,29.493	probably-damaging	159/312	3249552	3653,8733	2064	4129	6193	SO:0001583	missense	116534			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.478G>A	11.37:g.3249552C>T	ENSP00000374482:p.Gly160Ser		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37		712	0.326007326007326	37	0.07520325203252033	100	0.27624309392265195	229	0.40034965034965037	346	0.45646437994722955	c	7.476	0.647610	0.14516	0.116521	0.384112	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.75	0.817	0.18773	GPCR, rhodopsin-like superfamily (1);	0.506640	0.14301	U	0.328254	T	0.00012	0.0000	L	0.39397	1.21	0.80722	P	0.0	D	0.61080	0.989	P	0.55455	0.776	T	0.44697	-0.9311	8	0.24483	T	0.36	-11.0184	5.6296	0.17504	0.0:0.6298:0.0:0.3702	rs4391795;rs4990224	159	Q86SM8	MRGRE_HUMAN	S	160;159	.	ENSP00000374482:G159S	G	-	1	0	MRGPRE	3206128	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.733000	0.26087	-0.017000	0.14103	-0.229000	0.12294	GGC		0.692	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		T	3249552	C	T	3249552	3	4	49	1	0	0	0	0	1	0	0	0	9764	652	23	1	464	1	MRGPRE	11	3249552	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	2230838	3249552	131756964	31	4951											
CDC42BPG	55561	hgsc.bcm.edu;ucsc.edu	37	chr11	64600192	64600192	+	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	aacacgcgctgccagccccgCcggacacctgagggccgcgg	7	2	14	18	6	0	1	0	1	0	0	0	2	0	2	6	3	3	1	6	3	1	0			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:64600192C>A	ENST00000342711.5	-	26	2888	c.2889G>T	c.(2887-2889)cgG>cgT	p.R963R	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCCAGCCCCGCCGGACACCTG	0.711																																						.											0													17	21	20					11																	64600192		2196	4291	6487	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2889G>T	11.37:g.64600192C>A				Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																				0.711	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		A	64600192	C	A	64600192	2	1	49	1	0	0	0	0	0	0	0	1	3074	726	26	5		5	CDC42BPG	11	64600192	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10	61350640	64600192	70406324	32	4952											
SIPA1	6494	hgsc.bcm.edu	37	chr11	65414344	65414344	+	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	gtgccctgcctgctgggcatCtcggccgaggctctggtgct	2	10	15	14	2	2	0	0	0	2	0	3	1	2	0	3	4	4	4	3	4	0	0	rs201341786		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:65414344C>G	ENST00000394224.3	+	8	2135	c.1839C>G	c.(1837-1839)atC>atG	p.I613M	SIPA1_ENST00000394227.3_Intron|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.I613M|SIPA1_ENST00000527525.1_Intron	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	613					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						TGCTGGGCATCTCGGCCGAGG	0.746																																						.											0								C	MET/ILE,MET/ILE	0,3598		0,0,1799	6	7	6		1839,1839	1.5	1	11		6	17,6795		0,17,3389	no	missense,missense	SIPA1	NM_006747.3,NM_153253.29	10,10	0,17,5188	GG,GC,CC		0.2496,0.0,0.1633	benign,benign	613/1043,613/1043	65414344	17,10393	1799	3406	5205	SO:0001583	missense	6494			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.1839C>G	11.37:g.65414344C>G	ENSP00000377771:p.Ile613Met		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462676	0.43736	0.0	0.002496	ENSG00000213445	ENST00000534313;ENST00000394224	T;T	0.51574	0.7;0.7	3.42	1.52	0.23074	.	0.271361	0.23764	U	0.044793	T	0.39332	0.1074	L	0.49571	1.57	0.80722	D	1	B	0.32968	0.392	B	0.34991	0.193	T	0.26052	-1.0114	10	0.87932	D	0	-15.0648	7.2625	0.26212	0.0:0.7707:0.0:0.2293	.	613	Q96FS4	SIPA1_HUMAN	M	613	ENSP00000436269:I613M;ENSP00000377771:I613M	ENSP00000377771:I613M	I	+	3	3	SIPA1	65170920	0.989000	0.36119	0.990000	0.47175	0.919000	0.55068	0.278000	0.18753	0.280000	0.22209	0.297000	0.19635	ATC		0.746	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		G	65414344	C	G	65414344	3	3	49	1	0	0	0	0	1	0	0	0	14328	903	32	5	1865	5	SIPA1	11	65414344	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	814152	65414344	69592172	33	4953											
RIN1	9610	mdanderson.org	37	chr11	66102088	66102088	+	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	ccctgcagctcctggggctcGggcccagcccgcacctgggt	3	6	14	18	2	0	0	0	0	0	0	2	0	1	0	5	4	3	4	5	4	0	0	rs3814740	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:66102088G>A	ENST00000311320.4	-	6	1308	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	RIN1_ENST00000424433.2_Silent_p.P289P|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Silent_p.P289P	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	394	Ras and 14-3-3 protein binding region.			AGPE -> DGQR (in Ref. 1, 2 and 3). {ECO:0000305}.	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						CCTGGGGCTCGGGCCCAGCCC	0.721													G|||	740	0.147764	0.3026	0.0836	5008	,	,		11802	0.1399		0.0885	False		,,,				2504	0.0532					.											0								G		1109,3245		154,801,1222	10	11	11		1182	-8.5	0	11	dbSNP_107	11	652,7874		43,566,3654	no	coding-synonymous	RIN1	NM_004292.2		197,1367,4876	AA,AG,GG		7.6472,25.4708,13.6724		394/784	66102088	1761,11119	2177	4263	6440	SO:0001819	synonymous_variant	9610			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.1182C>T	11.37:g.66102088G>A			O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																				0.721	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		A	66102088	G	A	66102088	2	1	49	1	0	0	0	0	0	0	0	1	13371	1103	39	1		1	RIN1	11	66102088	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	687744	66102088	68904428	34	4954											
ABCG4	64137	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr11	119024755	119024755	+	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	ggttataagacccttctcaaGtgcctctcaggtaaattctg	10	13	8	10	0	3	1	2	0	3	1	5	1	3	1	2	2	1	2	2	2	5	5			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:119024755G>A	ENST00000449422.2	+	3	446	c.258G>A	c.(256-258)aaG>aaA	p.K86K	ABCG4_ENST00000307417.3_Silent_p.K86K|ABCG4_ENST00000531739.1_Silent_p.K86K	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	86	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTTCTCAAGTGCCTCTCAG	0.522																																						.											0													105	113	110					11																	119024755		2200	4295	6495	SO:0001819	synonymous_variant	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.258G>A	11.37:g.119024755G>A			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	CCDS8415.1																																																																																				0.522	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		A	119024755	G	A	119024755	2	1	49	1	0	0	0	0	0	0	0	1	70	1020	36	4		4	ABCG4	11	119024755	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	52922667	119024755	15981761	35	4955											
TAS2R43	259289	mdanderson.org	37	chr12	11244603	11244603	+	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	agttcttacttctacactatTaaaagctggattcaacacag	14	13	5	9	0	3	0	1	0	2	0	3	1	3	1	0	1	4	2	0	1	6	7	rs200999522	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr12:11244603T>A	ENST00000531678.1	-	1	309	c.226A>T	c.(226-228)Aat>Tat	p.N76Y	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	76					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)		TCTACACTATTAAAAGCTGGA	0.398																																						.											0													50	43	46					12																	11244603		1915	3971	5886	SO:0001583	missense	259289			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.226A>T	12.37:g.11244603T>A	ENSP00000431719:p.Asn76Tyr		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.676482	0.00102	.	.	ENSG00000255374	ENST00000531678	T	0.35789	1.29	1.97	-3.32	0.04973	.	.	.	.	.	T	0.03136	0.0092	N	0.00007	-3.165	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34976	-0.9807	8	0.02654	T	1	.	2.2701	0.04088	0.4334:0.0:0.3302:0.2364	.	76	P59537	T2R43_HUMAN	Y	76	ENSP00000431719:N76Y	ENSP00000431719:N76Y	N	-	1	0	TAS2R43	11135870	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.204000	0.09425	-0.948000	0.03668	-1.812000	0.00611	AAT		0.398	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244603	T	A	11244603	3	1	49	1	0	0	0	0	1	0	0	0	15578	1754	61	5	707	5	TAS2R43	12	11244603	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		11244603	122607292	36	4956											
PPP1R1A	5502	hgsc.bcm.edu	37	chr12	54982196	54982196	+	Missense_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	ccctgctccgcacctgctccGccgcctcggggtcaaggtgc	3	7	12	19	4	1	0	1	0	0	0	4	0	3	0	6	3	3	3	6	3	1	0			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr12:54982196G>A	ENST00000257905.8	-	1	247	c.77C>T	c.(76-78)gCg>gTg	p.A26V	PPP1R1A_ENST00000547431.1_Missense_Mutation_p.A26V	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	26					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						CACCTGCTCCGCCGCCTCGGG	0.721																																						.											0													5	7	6					12																	54982196		1704	3661	5365	SO:0001583	missense	5502			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.77C>T	12.37:g.54982196G>A	ENSP00000257905:p.Ala26Val		Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	ENST00000257905.8	37	CCDS44912.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.206739	0.79127	.	.	ENSG00000135447	ENST00000379690;ENST00000257905	T	0.29142	1.58	3.73	2.73	0.32206	.	0.174694	0.33772	N	0.004572	T	0.28400	0.0702	L	0.38531	1.155	0.25462	N	0.987909	P	0.51791	0.948	P	0.50934	0.654	T	0.05435	-1.0885	10	0.25751	T	0.34	.	8.5449	0.33415	0.0:0.2389:0.7611:0.0	.	26	Q13522	PPR1A_HUMAN	V	26	ENSP00000257905:A26V	ENSP00000257905:A26V	A	-	2	0	PPP1R1A	53268463	0.944000	0.32072	1.000000	0.80357	0.980000	0.70556	3.933000	0.56545	1.817000	0.53016	0.306000	0.20318	GCG		0.721	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406604.1	NM_006741		A	54982196	G	A	54982196	3	1	49	1	0	0	0	0	1	0	0	0	12367	1087	38	1	466	1	PPP1R1A	12	54982196	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	43737593	54982196	78869699	37	4957											
PABPC3	5042	mdanderson.org	37	chr13	25670851	25670851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaaagtatttgttggacAatttaagtctcgtaaagaac	14	13	8	6	2	1	1	0	0	1	1	3	2	1	2	0	1	1	4	0	1	7	6	rs75475407	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr13:25670851A>G	ENST00000281589.3	+	1	552	c.515A>G	c.(514-516)cAa>cGa	p.Q172R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	172	RRM 2. {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)		TTTGTTGGACAATTTAAGTCT	0.393													g|||	253	0.0505192	0.0719	0.0576	5008	,	,		22064	0.0268		0.0318	False		,,,				2504	0.0603					.											0													110	104	106					13																	25670851		2203	4300	6503	SO:0001583	missense	5042			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.515A>G	13.37:g.25670851A>G	ENSP00000281589:p.Gln172Arg		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	0.065	-1.215282	0.01542	.	.	ENSG00000151846	ENST00000281589	T	0.75704	-0.96	0.828	-0.101	0.13618	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.358703	0.18389	N	0.142734	T	0.42877	0.1222	N	0.10664	0.02	0.21841	N	0.99951	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	10	0.02654	T	1	.	5.2926	0.15735	0.2365:0.0:0.7635:0.0	.	172	Q9H361	PABP3_HUMAN	R	172	ENSP00000281589:Q172R	ENSP00000281589:Q172R	Q	+	2	0	PABPC3	24568851	1.000000	0.71417	0.921000	0.36526	0.168000	0.22595	4.799000	0.62517	-0.074000	0.12820	-0.769000	0.03391	CAA		0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25670851	A	G	25670851	3	3	49	1	0	0	0	0	1	0	0	0	11365	130	5	4	517	4	PABPC3	13	25670851	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10		25670851	89499027	38	4958											
CLN5	1203	mdanderson.org	37	chr13	77566090	77566090	+	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	gggcgcggggaggtgtcatgCgccggaacctgcgcttgggg	4	6	21	10	5	1	0	1	0	0	0	1	2	1	2	2	7	3	1	2	7	1	1	rs77416795	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr13:77566090C>T	ENST00000377453.3	+	1	1296	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	0					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)		AGGTGTCATGCGCCGGAACCT	0.706													C|||	698	0.139377	0.1293	0.2608	5008	,	,		12735	0.1071		0.0994	False		,,,				2504	0.1411					.											0								C	CYS/ARG	400,3146		17,366,1390	3	4	3		4	2.1	0	13	dbSNP_131	3	731,6513		40,651,2931	yes	missense	CLN5	NM_006493.2	180	57,1017,4321	TT,TC,CC		10.0911,11.2803,10.4819		2/408	77566090	1131,9659	1773	3622	5395	SO:0001583	missense	1203				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.4C>T	13.37:g.77566090C>T	ENSP00000366673:p.Arg2Cys		B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	CCDS9456.1	275	0.1259157509157509	67	0.13617886178861788	74	0.20441988950276244	58	0.10139860139860139	76	0.10026385224274406	C	14.02	2.409456	0.42715	0.112803	0.100911	ENSG00000102805	ENST00000377453	T	0.35605	1.3	3.0	2.13	0.27403	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.13845	-1.0494	5	0.87932	D	0	.	3.9634	0.09421	0.2315:0.6377:0.0:0.1308	.	.	.	.	C	2	ENSP00000366673:R2C	ENSP00000366673:R2C	R	+	1	0	CLN5	76464091	0.002000	0.14202	0.006000	0.13384	0.017000	0.09413	0.035000	0.13797	0.794000	0.33899	0.462000	0.41574	CGC		0.706	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		T	77566090	C	T	77566090	3	4	49	1	0	0	0	0	1	0	0	0	3544	768	27	1	6	1	CLN5	13	77566090	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	51895239	77566090	37603788	39	4959											
DOCK9	23348	broad.mit.edu	37	chr13	99476685	99476685	+	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	acatcctgcatccccacgtcTtccatcatggaggcctcctc	7	10	6	18	1	2	0	1	0	1	0	7	1	6	1	6	2	1	1	6	2	0	1			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr13:99476685T>C	ENST00000376460.1	-	46	5177	c.5097A>G	c.(5095-5097)gaA>gaG	p.E1699E	DOCK9_ENST00000339416.2_Silent_p.E1700E|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1700	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)					TCCCCACGTCTTCCATCATGG	0.542																																						.											0													166	162	163					13																	99476685		2025	4165	6190	SO:0001819	synonymous_variant	23348			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.5097A>G	13.37:g.99476685T>C			B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.19|10.19	1.281689|1.281689	0.23392|0.23392	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000400228	.|.	.|.	.|.	5.43|5.43	3.0|3.0	0.34707|0.34707	.|.	.|.	.|.	.|.	.|.	T|T	0.58264|0.58264	0.2110|0.2110	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50996|0.50996	-0.8761|-0.8761	4|4	.|.	.|.	.|.	.|.	8.8472|8.8472	0.35177|0.35177	0.0:0.2321:0.0:0.7679|0.0:0.2321:0.0:0.7679	.|.	.|.	.|.	.|.	R|G	117|264	.|.	.|.	K|R	-|-	2|1	0|2	DOCK9|DOCK9	98274686|98274686	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	1.521000|1.521000	0.35910|0.35910	0.371000|0.371000	0.24564|0.24564	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.542	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		C	99476685	T	C	99476685	2	2	49	1	0	0	0	0	0	0	0	1	4694	1606	56	2		2	DOCK9	13	99476685	Silent	SNP	T	TCGA-KN-8434-01A-11D-2310-10	21910595	99476685	15693193	40	4960											
KCNH5	27133	broad.mit.edu	37	chr14	63316516	63316516	+	Missense_Mutation	SNP	T	T	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	ggtatcggttggtgttggcaTacatttgctggaaaattgtt	8	16	13	4	1	0	0	0	0	0	0	1	1	0	1	0	5	2	6	0	5	4	7			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr14:63316516T>C	ENST00000322893.7	-	8	1692	c.1424A>G	c.(1423-1425)tAt>tGt	p.Y475C	KCNH5_ENST00000394968.1_Missense_Mutation_p.Y417C|KCNH5_ENST00000420622.2_Missense_Mutation_p.Y475C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	475					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)		GGTGTTGGCATACATTTGCTG	0.358																																						.											0													145	127	133					14																	63316516		2203	4299	6502	SO:0001583	missense	27133			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.1424A>G	14.37:g.63316516T>C	ENSP00000321427:p.Tyr475Cys		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135686	0.77662	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.99080	-5.4;-5.18;-5.2	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74674	0.967;0.959;0.984	D	0.99075	1.0835	10	0.87932	D	0	.	14.8119	0.70003	0.0:0.0:0.0:1.0	.	417;475;475	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	C	475;475;417	ENSP00000321427:Y475C;ENSP00000395439:Y475C;ENSP00000378419:Y417C	ENSP00000321427:Y475C	Y	-	2	0	KCNH5	62386269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.147000	0.66899	0.528000	0.53228	TAT		0.358	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		C	63316516	T	C	63316516	3	2	49	1	0	0	0	0	1	0	0	0	8035	1406	49	4	1592	4	KCNH5	14	63316516	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		63316516	44033024	41	4961											
MESDC1	59274	mdanderson.org	37	chr15	81294774	81294774	+	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	gctgacctgctgctgctgtcGagcgaggcgcggcccgtgct	3	8	16	14	5	0	1	0	1	0	0	1	3	0	1	2	2	5	5	2	2	0	0	rs11541231	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr15:81294774G>C	ENST00000267984.2	+	1	1480	c.162G>C	c.(160-162)tcG>tcC	p.S54S		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	54										endometrium(1)|lung(2)	3						TGCTGCTGTCGAGCGAGGCGC	0.701													G|||	137	0.0273562	0.003	0.0951	5008	,	,		9514	0		0.0457	False		,,,				2504	0.0215					.											0								G		48,3752		2,44,1854	11	9	10		162	-8.7	0.9	15	dbSNP_120	10	281,7351		5,271,3540	no	coding-synonymous	MESDC1	NM_022566.2		7,315,5394	CC,CG,GG		3.6819,1.2632,2.8779		54/363	81294774	329,11103	1900	3816	5716	SO:0001819	synonymous_variant	59274			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.162G>C	15.37:g.81294774G>C				Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																				0.701	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		C	81294774	G	C	81294774	2	2	49	1	0	0	0	0	0	0	0	1	9480	1045	37	5		5	MESDC1	15	81294774	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10		81294774	21236618	42	4962											
PKD1	5310	hgsc.bcm.edu	37	chr16	2139968	2139968	+	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	tggttgagtcggtcaaactgGgtgagcagggcctcgaacac	9	8	15	9	2	1	2	1	2	0	0	3	3	1	2	1	4	3	2	1	4	2	1			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:2139968G>A	ENST00000262304.4	-	46	12880	c.12672C>T	c.(12670-12672)acC>acT	p.T4224T	PKD1_ENST00000423118.1_Silent_p.T4223T|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4224					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						GGTCAAACTGGGTGAGCAGGG	0.687																																						.											0													32	31	31					16																	2139968		2193	4293	6486	SO:0001819	synonymous_variant	5310			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.12672C>T	16.37:g.2139968G>A			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			A	2139968	G	A	2139968	2	1	49	1	0	0	0	0	0	0	0	1	11963	1219	43	3		3	PKD1	16	2139968	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10		2139968	88214785	43	4963											
NTN3	4917	bcgsc.ca	37	chr16	2523296	2523296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccctggacccactgaggAcagcagccctgtgcagcccc	8	6	10	17	0	0	1	0	1	0	0	1	3	1	3	5	2	4	2	5	2	1	1			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:2523296A>G	ENST00000293973.1	+	4	1498	c.1295A>G	c.(1294-1296)gAc>gGc	p.D432G	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	432					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						CCCACTGAGGACAGCAGCCCT	0.647																																						.											0													92	109	103					16																	2523296		2198	4298	6496	SO:0001583	missense	4917			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.1295A>G	16.37:g.2523296A>G	ENSP00000293973:p.Asp432Gly			Missense_Mutation	SNP	ENST00000293973.1	37	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	A	2.177	-0.388519	0.04932	.	.	ENSG00000162068	ENST00000293973	T	0.35789	1.29	3.8	1.25	0.21368	.	0.345781	0.25154	N	0.032739	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.10200	-1.0640	10	0.21540	T	0.41	.	2.0831	0.03640	0.4809:0.0:0.2595:0.2596	.	432	O00634	NET3_HUMAN	G	432	ENSP00000293973:D432G	ENSP00000293973:D432G	D	+	2	0	NTN3	2463297	0.712000	0.27916	0.956000	0.39512	0.886000	0.51366	1.231000	0.32624	1.372000	0.46190	0.260000	0.18958	GAC		0.647	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		G	2523296	A	G	2523296	3	3	49	1	0	0	0	0	1	0	0	0	10701	275	10	2	1309	2	NTN3	16	2523296	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	383328	2523296	87831457	44	4964											
XYLT1	64131	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	17235168	17235168	+	Missense_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	gatccgccgatctcccaggcGccacatgtgagcgtcgcact	7	7	11	16	5	1	1	0	1	1	0	4	3	2	1	4	1	1	1	4	1	0	0			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:17235168G>A	ENST00000261381.6	-	7	1513	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	477					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						TCTCCCAGGCGCCACATGTGA	0.597																																						.											0													74	75	75					16																	17235168		2197	4300	6497	SO:0001583	missense	64131			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.1429C>T	16.37:g.17235168G>A	ENSP00000261381:p.Arg477Cys		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676602	0.88445	.	.	ENSG00000103489	ENST00000261381	T	0.06608	3.28	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11324	-1.0592	10	0.87932	D	0	-41.8453	19.2966	0.94124	0.0:0.0:1.0:0.0	.	477	Q86Y38	XYLT1_HUMAN	C	477	ENSP00000261381:R477C	ENSP00000261381:R477C	R	-	1	0	XYLT1	17142669	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.392000	0.66272	2.797000	0.96272	0.555000	0.69702	CGC		0.597	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17235168	G	A	17235168	3	1	49	1	0	0	0	0	1	0	0	0	17460	1087	38	1	1474	1	XYLT1	16	17235168	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	14711872	17235168	73119585	45	4965											
ARMC5	79798	broad.mit.edu	37	chr16	31471187	31471189	+	In_Frame_Del	DEL	GTC	GTC	-																															ggccccgccccctccgctgtGtcgtcgtctagtcctacgcc																								rs199693319|rs184376263|rs538649451	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:31471187_31471189delGTC	ENST00000563544.1	+	2	888_890	c.342_344delGTC	c.(340-345)gtgtcg>gtg	p.S118del	ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000268314.4_In_Frame_Del_p.S118del|ARMC5_ENST00000457010.2_In_Frame_Del_p.S118del|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_In_Frame_Del_p.S150del|ARMC5_ENST00000408912.3_In_Frame_Del_p.S213del			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	118										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ccTCCGCTGTGTCGTCGTCTAGT	0.734														2	0.000399361	0	0	5008	,	,		10839	0.001		0	False		,,,				2504	0.001					.											0									,	2,3402		1,0,1701					,	-4.4	0			11	12,7356		5,2,3677	no	coding,coding	ARMC5	NM_024742.2,NM_001105247.1	,	6,2,5378	A1A1,A1R,RR		0.1629,0.0588,0.13	,	,		14,10758				SO:0001651	inframe_deletion	79798			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.342_344delGTC	16.37:g.31471193_31471195delGTC	ENSP00000456877:p.Ser118del		Q86WM9|Q9H7P8|Q9H925	In_Frame_Del	DEL	ENST00000563544.1	37	CCDS45472.1																																																																																				0.734	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		-	31471189	GTC	-	31471187	7	5	49	1	0	1	0	1	0	0	0	0	954	1364	48	0	344	0	ARMC5	16	31471187	In_Frame_Del	DEL	GTC	TCGA-KN-8434-01A-11D-2310-10	14236019	31471187	58883566	46	4966											
POLR2A	5430	broad.mit.edu	37	chr17	7404959	7404959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgagacaagactggcTcctctgctcagaaatccctg	10	8	9	14	1	2	3	1	0	1	3	4	4	4	3	3	1	2	2	3	1	2	0			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7404959T>C	ENST00000322644.6	+	14	2659	c.2260T>C	c.(2260-2262)Tcc>Ccc	p.S754P		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	754					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)				CAAGACTGGCTCCTCTGCTCA	0.502																																						.											0													83	78	80					17																	7404959		2203	4300	6503	SO:0001583	missense	5430					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.2260T>C	17.37:g.7404959T>C	ENSP00000314949:p.Ser754Pro		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613984	0.87359	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.66815	-0.23	6.07	6.07	0.98685	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	M	0.62723	1.935	0.80722	D	1	P	0.42039	0.769	P	0.49451	0.611	T	0.76468	-0.2948	10	0.87932	D	0	-16.3469	15.6114	0.76721	0.0:0.0:0.0:1.0	.	754	P24928	RPB1_HUMAN	P	710;754	ENSP00000314949:S754P	ENSP00000314949:S754P	S	+	1	0	SLC35G6	7345683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.861000	0.87004	2.326000	0.78906	0.533000	0.62120	TCC		0.502	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		C	7404959	T	C	7404959	3	2	49	1	0	0	0	0	1	0	0	0	12214	1551	54	2	2314	2	POLR2A	17	7404959	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		7404959	73790251	47	4967											
FXR2	9513	bcgsc.ca	37	chr17	7506235	7506235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaataaactcaccagaatgaAgagctcactgtttgtgatgt	14	11	9	7	0	2	4	2	2	0	2	2	5	2	4	1	0	2	2	1	0	5	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7506235A>G	ENST00000250113.7	-	6	869	c.535T>C	c.(535-537)Ttc>Ctc	p.F179L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	179						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCAGAATGAAGAGCTCACTG	0.393																																						.											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											101	97	98					17																	7506235		1855	4101	5956	SO:0001583	missense	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.535T>C	17.37:g.7506235A>G	ENSP00000250113:p.Phe179Leu		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611895	0.28712	.	.	ENSG00000129245	ENST00000250113	T	0.32515	1.45	6.03	6.03	0.97812	.	0.104089	0.64402	D	0.000003	T	0.11965	0.0291	N	0.01576	-0.805	0.32738	N	0.508139	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.003	T	0.13282	-1.0515	10	0.30078	T	0.28	0.1318	9.7513	0.40477	0.8461:0.0:0.0:0.1539	.	179;179	Q86V09;P51116	.;FXR2_HUMAN	L	179	ENSP00000250113:F179L	ENSP00000250113:F179L	F	-	1	0	FXR2	7446960	0.997000	0.39634	1.000000	0.80357	0.760000	0.43138	1.591000	0.36665	2.308000	0.77769	0.533000	0.62120	TTC		0.393	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			G	7506235	A	G	7506235	3	3	49	1	0	0	0	0	1	0	0	0	6116	72	3	2	1434	2	FXR2	17	7506235	Missense_Mutation	SNP	A	TCGA-KN-8434-01A-11D-2310-10	101276	7506235	73688975	48	4968											
SHBG	6462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7534020	7534020	+	Nonsense_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	cctcctcctcctttgaggttCgaacctgggacccagaggga	7	9	11	14	1	0	2	0	1	0	1	4	5	3	4	6	3	1	1	6	3	1	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7534020C>T	ENST00000380450.4	+	3	257	c.226C>T	c.(226-228)Cga>Tga	p.R76*	SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000572182.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000574539.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000575903.1_Nonsense_Mutation_p.R76*|SHBG_ENST00000576728.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000576478.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000441599.2_Nonsense_Mutation_p.R76*|SHBG_ENST00000575314.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000570547.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000572262.1_Nonsense_Mutation_p.R18*|SHBG_ENST00000340624.5_Nonsense_Mutation_p.R18*|SHBG_ENST00000416273.3_Nonsense_Mutation_p.R76*|SAT2_ENST00000573566.1_5'Flank|SAT2_ENST00000380466.2_5'Flank	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	76	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	CTTTGAGGTTCGAACCTGGGA	0.502																																						.											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											65	62	63					17																	7534020		2203	4300	6503	SO:0001587	stop_gained	6462				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.226C>T	17.37:g.7534020C>T	ENSP00000369816:p.Arg76*		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Nonsense_Mutation	SNP	ENST00000380450.4	37	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755742	0.89843	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	.	.	.	5.04	2.98	0.34508	.	0.392041	0.26112	N	0.026270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5936	8.3525	0.32310	0.0:0.755:0.1569:0.0881	.	.	.	.	X	18;76;76;76;76;76	.	ENSP00000345675:R18X	R	+	1	2	SHBG	7474745	0.795000	0.28851	0.009000	0.14445	0.979000	0.70002	2.218000	0.42889	0.493000	0.27837	0.561000	0.74099	CGA		0.502	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		T	7534020	C	T	7534020	4	4	49	1	0	0	0	0	0	1	0	0	14269	876	31	1	236	1	SHBG	17	7534020	Nonsense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	27785	7534020	73661190	49	4969											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7578507	7578507	+	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	tcaacccacagctgcacaggGcaggtcttggccagttggca	9	7	12	13	0	2	0	1	0	1	0	2	0	2	0	2	4	3	5	2	4	1	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7578507G>C	ENST00000269305.4	-	5	612	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000359597.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000420246.2_Missense_Mutation_p.C141W|TP53_ENST00000455263.2_Missense_Mutation_p.C141W|TP53_ENST00000574684.1_5'Flank	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(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)	GCTGCACAGGGCAGGTCTTGG	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	55	Substitution - Missense(16)|Substitution - Nonsense(11)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)|Insertion - In frame(1)	ovary(13)|lung(9)|breast(6)|oesophagus(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|kidney(1)|urinary_tract(1)											57	56	56					17																	7578507		2203	4300	6503	SO:0001583	missense	7157	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;	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.423C>G	17.37:g.7578507G>C	ENSP00000269305:p.Cys141Trp		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	12.43	1.936103	0.34189	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.48	2.07	0.26955	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99775	0.9907	M	0.90309	3.105	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;0.998;1.0;1.0;1.0;1.0	D	0.98853	1.0759	10	0.87932	D	0	-26.1094	8.3736	0.32430	0.2952:0.0:0.7048:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141W;ENSP00000352610:C141W;ENSP00000269305:C141W;ENSP00000398846:C141W;ENSP00000391127:C141W;ENSP00000391478:C141W;ENSP00000425104:C9W;ENSP00000423862:C48W;ENSP00000424104:C141W	ENSP00000269305:C141W	C	-	3	2	TP53	7519232	1.000000	0.71417	0.987000	0.45799	0.022000	0.10575	1.115000	0.31209	0.236000	0.21180	0.655000	0.94253	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578507	G	C	7578507	3	2	49	1	0	0	0	0	1	0	0	0	16378	1195	42	5	875	5	TP53	17	7578507	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	44487	7578507	73616703	50	4970											
DNAH9	1770	ucsc.edu	37	chr17	11865498	11865498	+	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	atgacgaagaagaacagagaAgagtttaggagtcctcctcg	15	7	12	7	2	0	5	0	1	0	4	3	8	2	6	2	1	1	1	2	1	5	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:11865498A>G	ENST00000262442.4	+	68	13226	c.13158A>G	c.(13156-13158)gaA>gaG	p.E4386E	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.E4310E|DNAH9_ENST00000608377.1_Silent_p.E698E|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4386					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)		AGAACAGAGAAGAGTTTAGGA	0.542																																						.											0													76	77	77					17																	11865498		2203	4300	6503	SO:0001819	synonymous_variant	1770			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.13158A>G	17.37:g.11865498A>G			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		G	11865498	A	G	11865498	2	3	49	1	0	0	0	0	0	0	0	1	4608	69	3	2		2	DNAH9	17	11865498	Silent	SNP	A	TCGA-KN-8434-01A-11D-2310-10	4286991	11865498	69329712	51	4971											
NLE1	54475	mdanderson.org	37	chr17	33469279	33469279	+	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	ccatccacgcacacccaccgGcactgctgccgccatcctgc	7	5	7	22	3	0	0	0	0	0	0	2	0	2	0	7	1	3	3	7	1	0	0	rs1471615	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:33469279G>C	ENST00000442241.4	-	1	55	c.16C>G	c.(16-18)Ccg>Gcg	p.P6A	NLE1_ENST00000360831.5_Missense_Mutation_p.P6A|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	6			P -> A (in dbSNP:rs1471615). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19413330, ECO:0000269|PubMed:22223895, ECO:0000269|PubMed:22814378, ECO:0000269|Ref.5}.		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)				ACACCCACCGGCACTGCTGCC	0.756													C|||	4975	0.993411	0.9985	0.9957	5008	,	,		10691	1		0.9742	False		,,,				2504	0.998					.											0								C	,ALA/PRO	3575,19		1778,19,0	3	4	4		,16	3.4	0	17	dbSNP_88	4	7070,124		3473,124,0	no	utr-5,missense	NLE1	NM_001014445.1,NM_018096.3	,27	5251,143,0	CC,CG,GG		1.7237,0.5287,1.3255	,benign	,6/486	33469279	10645,143	1797	3597	5394	SO:0001583	missense	54475				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.16C>G	17.37:g.33469279G>C	ENSP00000413572:p.Pro6Ala		O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	CCDS11291.1	2147	0.983058608058608	488	0.991869918699187	357	0.9861878453038674	572	1.0	730	0.9630606860158312	C	12.94	2.088081	0.36855	0.994713	0.982763	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.55588	0.51	4.34	3.37	0.38596	.	.	.	.	.	T	0.00012	0.0000	N	0.11560	0.145	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34153	-0.9840	8	0.18710	T	0.47	15.9119	5.5414	0.17039	0.0:0.6863:0.2052:0.1085	rs1471615;rs52800602;rs59359892;rs1471615	6	Q9NVX2	NLE1_HUMAN	A	6	ENSP00000413572:P6A	ENSP00000413572:P6A	P	-	1	0	NLE1	30493392	0.001000	0.12720	0.010000	0.14722	0.119000	0.20118	0.511000	0.22739	1.193000	0.43086	-0.187000	0.12897	CCG		0.756	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		C	33469279	G	C	33469279	3	2	49	1	0	0	0	0	1	0	0	0	10460	1203	42	5	1493	5	NLE1	17	33469279	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	21603781	33469279	47725931	52	4972											
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274432	39274432	+	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	gggcctgcagcagctggacaCacagcagctggggcgacagt	9	4	16	12	1	0	0	0	0	0	0	0	2	0	1	1	4	5	5	1	4	0	0			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:39274432C>T	ENST00000391413.2	-	1	174	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	46	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)			CAGCTGGACACACAGCAGCTG	0.677																																						.											0													14	18	17					17																	39274432		690	1591	2281	SO:0001583	missense	653240			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.136G>A	17.37:g.39274432C>T	ENSP00000375232:p.Val46Met		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385842	0.25031	.	.	ENSG00000212721	ENST00000391413	T	0.01430	4.9	3.76	-6.69	0.01772	.	0.911881	0.08829	U	0.887602	T	0.03739	0.0106	M	0.84948	2.725	0.09310	N	1	P	0.40266	0.71	P	0.46585	0.521	T	0.02144	-1.1206	10	0.54805	T	0.06	.	8.7851	0.34816	0.0:0.3102:0.5247:0.1651	.	46	Q9BYQ6	KR411_HUMAN	M	46	ENSP00000375232:V46M	ENSP00000375232:V46M	V	-	1	0	KRTAP4-11	36527958	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.396000	0.01052	-0.895000	0.03920	-1.166000	0.01754	GTG		0.677	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274432	C	T	39274432	3	4	49	1	0	0	0	0	1	0	0	0	8549	478	17	4	455	4	KRTAP4-11	17	39274432	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	5805153	39274432	41920778	53	4973											
LPIN2	9663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	2937725	2937725	+	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	gcgagtctactttagctgccGgtttggattctgagggcgcc	5	12	14	10	3	2	1	0	1	2	0	2	3	2	2	2	3	3	2	2	3	2	5	rs146067222		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr18:2937725G>A	ENST00000261596.4	-	7	1371	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	378					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)		TTTAGCTGCCGGTTTGGATTC	0.453													G|||	1	0.000199681	8e-04	0	5008	,	,		16946	0		0	False		,,,				2504	0					.											0								G	LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	59	61	61		1133	5.7	0.9	18	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LPIN2	NM_014646.2	98	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	378/897	2937725	4,13002	2203	4300	6503	SO:0001583	missense	9663			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.1133C>T	18.37:g.2937725G>A	ENSP00000261596:p.Pro378Leu		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140207	0.37825	6.81E-4	1.16E-4	ENSG00000101577	ENST00000261596	T	0.80304	-1.36	5.74	5.74	0.90152	.	1.049380	0.07337	N	0.880142	D	0.83543	0.5277	M	0.78637	2.42	0.58432	D	0.999999	B	0.14438	0.01	B	0.08055	0.003	T	0.69146	-0.5222	10	0.29301	T	0.29	.	18.1163	0.89556	0.0:0.0:1.0:0.0	.	378	Q92539	LPIN2_HUMAN	L	378	ENSP00000261596:P378L	ENSP00000261596:P378L	P	-	2	0	LPIN2	2927725	1.000000	0.71417	0.910000	0.35882	0.895000	0.52256	4.088000	0.57678	2.715000	0.92844	0.655000	0.94253	CCG		0.453	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		A	2937725	G	A	2937725	3	1	49	1	0	0	0	0	1	0	0	0	8919	1116	39	1	1613	1	LPIN2	18	2937725	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10		2937725	75139523	54	4974											
SBNO2	22904	hgsc.bcm.edu;mdanderson.org	37	chr19	1108866	1108866	+	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	gccatgacggcggcgatgcgGccccacacgcgcagcagcgc	7	2	15	17	7	0	1	0	1	0	0	0	2	0	1	3	3	3	2	3	3	0	0	rs374174588		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:1108866G>A	ENST00000361757.3	-	31	3765	c.3528C>T	c.(3526-3528)ggC>ggT	p.G1176G	SBNO2_ENST00000438103.2_Silent_p.G1119G|SBNO2_ENST00000587024.1_Silent_p.G1166G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1176					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGATGCGGCCCCACACGC	0.687																																						.											0									,	1,3983		0,1,1991	8	9	9		3357,3528	4.3	1	19		9	4,8284		0,4,4140	no	coding-synonymous,coding-synonymous	SBNO2	NM_001100122.1,NM_014963.2	,	0,5,6131	AA,AG,GG		0.0483,0.0251,0.0407	,	1119/1310,1176/1367	1108866	5,12267	1992	4144	6136	SO:0001819	synonymous_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3528C>T	19.37:g.1108866G>A			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																				0.687	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		A	1108866	G	A	1108866	2	1	49	1	0	0	0	0	0	0	0	1	13863	1190	42	3		3	SBNO2	19	1108866	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10		1108866	58020117	55	4975											
DOT1L	84444	mdanderson.org	37	chr19	2226676	2226676	+	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	tgaagggcgagggcagccgcGgcaaggaggcaggggagggc	9	1	23	8	3	0	1	0	1	0	0	0	4	0	3	1	8	1	3	1	8	2	0	rs3815308	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:2226676G>A	ENST00000398665.3	+	27	4192	c.4156G>A	c.(4156-4158)Ggc>Agc	p.G1386S		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1386			G -> S (in dbSNP:rs3815308).		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)		GGGCAGCCGCGGCAAGGAGGC	0.726													G|||	1130	0.225639	0.0356	0.3069	5008	,	,		10935	0.1825		0.4692	False		,,,				2504	0.2188					.											0								G	SER/GLY	373,3611		37,299,1656	6	9	8		4156	0.4	0	19	dbSNP_107	8	3524,4624		845,1834,1395	no	missense	DOT1L	NM_032482.2	56	882,2133,3051	AA,AG,GG		43.2499,9.3624,32.1217	benign	1386/1538	2226676	3897,8235	1992	4074	6066	SO:0001583	missense	84444			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.4156G>A	19.37:g.2226676G>A	ENSP00000381657:p.Gly1386Ser		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	602	0.27564102564102566	19	0.03861788617886179	123	0.3397790055248619	113	0.19755244755244755	347	0.4577836411609499	G	0.015	-1.555274	0.00918	0.093624	0.432499	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.28454	2.06;1.61	4.28	0.43	0.16515	.	0.858235	0.09817	N	0.751980	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.24533	0.105;0.012	B;B	0.12837	0.003;0.008	T	0.46303	-0.9201	9	0.87932	D	0	-4.2319	10.6441	0.45610	0.3992:0.0:0.6008:0.0	rs3815308;rs56900395	1386;1386	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	S	1386;1386;266	ENSP00000381657:G1386S;ENSP00000407411:G266S	ENSP00000221482:G1386S	G	+	1	0	DOT1L	2177676	0.363000	0.24989	0.007000	0.13788	0.002000	0.02628	1.858000	0.39408	-0.020000	0.14032	-1.134000	0.01955	GGC		0.726	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		A	2226676	G	A	2226676	3	1	49	1	0	0	0	0	1	0	0	0	4709	1116	39	1	4262	1	DOT1L	19	2226676	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	1117810	2226676	56902307	56	4976											
RAVER1	125950	mdanderson.org	37	chr19	10431799	10431799	+	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	cctcggagccccacaggggcGgggggaggagtgagctgggc	6	3	21	11	2	0	1	0	1	0	0	1	4	0	4	3	8	2	1	3	8	0	0	rs281425	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:10431799G>T	ENST00000293677.6	-	8	1530	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	466						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCACAGGGGCGGGGGGAGGAG	0.736													G|||	1073	0.214257	0.3086	0.1801	5008	,	,		12960	0.1012		0.2256	False		,,,				2504	0.2157					.											0								G		462,2062		41,380,841	2	2	2		1449	-7.2	0.3	19	dbSNP_79	2	1100,4946		110,880,2033	no	coding-synonymous	RAVER1	NM_133452.2		151,1260,2874	TT,TG,GG		18.1938,18.3043,18.2264		483/757	10431799	1562,7008	1262	3023	4285	SO:0001819	synonymous_variant	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1449C>A	19.37:g.10431799G>T			A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	CCDS45960.1																																																																																				0.736	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		T	10431799	G	T	10431799	2	4	49	1	0	0	0	0	0	0	0	1	13094	1103	39	5		5	RAVER1	19	10431799	Silent	SNP	G	TCGA-KN-8434-01A-11D-2310-10	8205123	10431799	48697184	57	4977											
CC2D1A	54862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	14024412	14024412	+	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	gaccttctgccaccgccccaGcctcatctccaggcttggct	5	9	8	19	1	3	0	1	0	2	0	4	1	3	0	7	2	2	2	7	2	0	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:14024412G>C	ENST00000318003.7	+	6	950	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P	CC2D1A_ENST00000589606.1_Missense_Mutation_p.A237P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	237	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CACCGCCCCAGCCTCATCTCC	0.672																																						.											0													21	25	24					19																	14024412		1936	4116	6052	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.709G>C	19.37:g.14024412G>C	ENSP00000313601:p.Ala237Pro		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	9.613	1.131834	0.21041	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.21191	2.02	4.58	-1.52	0.08637	.	0.960608	0.08628	N	0.917415	T	0.14056	0.0340	L	0.40543	1.245	0.09310	N	1	P;B	0.40875	0.731;0.001	B;B	0.38616	0.277;0.003	T	0.24870	-1.0148	10	0.23891	T	0.37	-6.2937	4.6872	0.12764	0.3443:0.0:0.5119:0.1438	.	237;237	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	P	237;75;212	ENSP00000313601:A237P	ENSP00000254346:A75P	A	+	1	0	CC2D1A	13885412	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.237000	0.08990	-0.243000	0.09653	0.462000	0.41574	GCC		0.672	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		C	14024412	G	C	14024412	3	2	49	1	0	0	0	0	1	0	0	0	2726	971	34	5	731	5	CC2D1A	19	14024412	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	3592613	14024412	45104571	58	4978											
GLTSCR1	29998	mdanderson.org	37	chr19	48183114	48183114	+	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	gggggtgccacggcggccacActgggcctggcgcccatcca	5	4	16	16	3	0	0	0	0	0	0	1	0	1	0	5	6	1	0	5	6	0	0	rs2914438	byFrequency	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:48183114A>G	ENST00000396720.3	+	6	881	c.687A>G	c.(685-687)acA>acG	p.T229T	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	229										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)		CGGCGGCCACACTGGGCCTGG	0.711													G|||	4089	0.816494	0.798	0.7954	5008	,	,		11827	0.9593		0.7227	False		,,,				2504	0.8057					.											0								G		2219,413		932,355,29	3	4	4		687	-9.6	0	19	dbSNP_101	4	4284,1130		1704,876,127	no	coding-synonymous	GLTSCR1	NM_015711.3		2636,1231,156	GG,GA,AA		20.8718,15.6915,19.1772		229/1561	48183114	6503,1543	1316	2707	4023	SO:0001819	synonymous_variant	29998			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.687A>G	19.37:g.48183114A>G			A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																				0.711	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		G	48183114	A	G	48183114	2	3	49	1	0	0	0	0	0	0	0	1	6474	146	6	2		2	GLTSCR1	19	48183114	Silent	SNP	A	TCGA-KN-8434-01A-11D-2310-10	34158702	48183114	10945869	59	4979											
RBCK1	10616	broad.mit.edu	37	chr20	400073	400074	+	Frame_Shift_Ins	INS	-	-	G																															ccggggtcccccaggaacccINSggacgggggcagccagatgc																								rs377036635		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr20:400073_400074insG	ENST00000356286.5	+	5	1248_1249	c.543_544insG	c.(544-546)ggafs	p.G182fs	RBCK1_ENST00000353660.3_Frame_Shift_Ins_p.G140fs|RBCK1_ENST00000382181.2_Frame_Shift_Ins_p.D66fs	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	182	Interaction with IRF3.|Interaction with TAB2.				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)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCCAGGAACCCGGACGGGGGCA	0.668																																						.											0																																										SO:0001589	frameshift_variant	10616			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.545dupG	20.37:g.400075_400075dupG	ENSP00000348632:p.Gly182fs		O95623|Q86SL2|Q96BS3|Q9BYM9	Frame_Shift_Ins	INS	ENST00000356286.5	37	CCDS13000.2																																																																																				0.668	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		G	400074	-	G	400073	7	5	49	1	0	1	1	0	0	0	0	0	13107	639	23	0	580	0	RBCK1	20	400073	Frame_Shift_Ins	INS	-	TCGA-KN-8434-01A-11D-2310-10		400073	62625447	60	4980											
RIPK4	54101	ucsc.edu	37	chr21	43187089	43187089	+	Missense_Mutation	SNP	T	T	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	tccagtggacatggcgcaccTtgtacacctgcccgaagccg	8	7	11	15	3	0	0	0	0	0	0	1	2	1	1	5	2	3	2	5	2	2	2			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr21:43187089T>C	ENST00000352483.2	-	1	177	c.113A>G	c.(112-114)aAg>aGg	p.K38R	RIPK4_ENST00000332512.3_Missense_Mutation_p.K38R|RIPK4_ENST00000544709.1_5'Flank|RIPK4_ENST00000542057.1_5'Flank			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGGCGCACCTTGTACACCTG	0.726																																						.											0													34	30	32					21																	43187089		2201	4299	6500	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.113A>G	21.37:g.43187089T>C	ENSP00000330161:p.Lys38Arg		Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	T	18.63	3.666244	0.67814	.	.	ENSG00000183421	ENST00000332512;ENST00000352483	T;T	0.70164	-0.46;-0.46	3.5	3.5	0.40072	.	0.000000	0.56097	U	0.000027	T	0.68302	0.2986	N	0.21324	0.655	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.68884	-0.5291	10	0.48119	T	0.1	-27.0112	11.2166	0.48830	0.0:0.0:0.0:1.0	.	38	P57078-2	.	R	38	ENSP00000332454:K38R;ENSP00000330161:K38R	ENSP00000332454:K38R	K	-	2	0	RIPK4	42060158	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.694000	0.74587	1.231000	0.43661	0.254000	0.18369	AAG		0.726	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		C	43187089	T	C	43187089	3	2	49	1	0	0	0	0	1	0	0	0	13383	1609	56	2	2273	2	RIPK4	21	43187089	Missense_Mutation	SNP	T	TCGA-KN-8434-01A-11D-2310-10		43187089	4942806	61	4981											
MN1	4330	broad.mit.edu	37	chr22	28193289	28193289	+	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	ccacggggagggagtttgggCgagccggtcaccaggggact	7	5	19	10	3	1	0	1	0	0	0	1	4	1	3	3	7	1	1	3	7	0	1			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr22:28193289C>T	ENST00000302326.4	-	1	4197	c.3243G>A	c.(3241-3243)tcG>tcA	p.S1081S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1081					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						GGAGTTTGGGCGAGCCGGTCA	0.662			T	ETV6	"AML, meningioma"																																	.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													20	23	22					22																	28193289		1957	4130	6087	SO:0001819	synonymous_variant	4330			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.3243G>A	22.37:g.28193289C>T			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.662	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28193289	C	T	28193289	2	4	49	1	0	0	0	0	0	0	0	1	9673	755	27	1		1	MN1	22	28193289	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10		28193289	23111277	62	4982											
RHBDD3	25807	broad.mit.edu	37	chr22	29661514	29661515	+	Frame_Shift_Ins	INS	-	-	C																															gggccaggaccaggccggggINSccggcccccaccagccacag																										TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr22:29661514_29661515insC	ENST00000216085.7	-	3	525_526	c.101_102insG	c.(100-102)ggcfs	p.G34fs	EWSR1_ENST00000331029.7_5'Flank|EWSR1_ENST00000332035.6_5'Flank|EWSR1_ENST00000414183.2_5'Flank|EWSR1_ENST00000406548.1_5'Flank|EWSR1_ENST00000333395.6_5'Flank|EWSR1_ENST00000332050.6_5'Flank|EWSR1_ENST00000397938.2_5'Flank	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	34					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						CCAGGCCGGGGCCGGCCCCCAC	0.683																																						.											0																																										SO:0001589	frameshift_variant	25807			AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.102dupG	22.37:g.29661516_29661516dupC	ENSP00000216085:p.Gly34fs		Q6I9X3|Q9UGQ7	Frame_Shift_Ins	INS	ENST00000216085.7	37	CCDS13850.1																																																																																				0.683	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		C	29661515	-	C	29661514	7	5	49	1	0	1	1	0	0	0	0	0	13318	1190	42	0	1078	0	RHBDD3	22	29661514	Frame_Shift_Ins	INS	-	TCGA-KN-8434-01A-11D-2310-10	1468225	29661514	21643052	63	4983											
DMD	1756	broad.mit.edu	37	chrX	31645807	31645807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttgccattgtttcatcaGctcttttactcccttggagt	6	18	6	11	0	3	0	2	0	1	0	4	1	4	1	2	1	4	2	2	1	2	7			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:31645807G>T	ENST00000357033.4	-	55	8406	c.8200C>A	c.(8200-8202)Ctg>Atg	p.L2734M	DMD_ENST00000541735.1_Missense_Mutation_p.L274M|DMD_ENST00000359836.1_Missense_Mutation_p.L274M|DMD_ENST00000378677.2_Missense_Mutation_p.L2730M|DMD_ENST00000474231.1_Missense_Mutation_p.L274M|DMD_ENST00000343523.2_Missense_Mutation_p.L274M|DMD_ENST00000378707.3_Missense_Mutation_p.L274M	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	2734					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)				TGTTTCATCAGCTCTTTTACT	0.448																																						.											0													102	87	92					X																	31645807		2202	4300	6502	SO:0001583	missense	1756			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.8200C>A	X.37:g.31645807G>T	ENSP00000354923:p.Leu2734Met		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.24|16.24	3.066465|3.066465	0.55539|0.55539	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.61392	.|0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.81|5.81	4.95|4.95	0.65309|0.65309	.|.	.|0.000000	.|0.30547	.|U	.|0.009394	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.77820|0.77820	2.39|2.39	0.41503|0.41503	D|D	0.988296|0.988296	.|P;P;P;D;D;P;D;D;D;D	.|0.89917	.|0.826;0.946;0.946;1.0;1.0;0.753;0.999;0.999;1.0;1.0	.|B;P;P;D;D;B;D;D;D;D	.|0.91635	.|0.43;0.864;0.864;0.999;0.999;0.406;0.992;0.986;0.999;0.998	T|T	0.76523|0.76523	-0.2928|-0.2928	5|10	.|0.35671	.|T	.|0.21	.|.	16.1681|16.1681	0.81785|0.81785	0.0:0.1296:0.8703:0.0|0.0:0.1296:0.8703:0.0	.|.	.|2726;2734;2730;1393;1390;274;274;274;274;274	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.	D|M	462|2726;1393;1390;430;2730;2734;274;274;2734;2611;274;274;274	.|ENSP00000350765:L430M;ENSP00000367948:L2730M;ENSP00000354923:L2734M;ENSP00000352894:L274M;ENSP00000340057:L274M;ENSP00000367979:L274M;ENSP00000444119:L274M;ENSP00000417123:L274M	.|ENSP00000340057:L274M	A|L	-|-	2|1	0|2	DMD|DMD	31555728|31555728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.728000|1.728000	0.38105|0.38105	1.220000|1.220000	0.43490|0.43490	0.508000|0.508000	0.49915|0.49915	GCT|CTG		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31645807	G	T	31645807	3	4	49	1	0	0	0	0	1	0	0	0	4580	962	34	5	3105	5	DMD	23	31645807	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10		31645807	123624753	64	4984											
TBC1D25	4943	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	48418349	48418349	+	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	atggaccatgagggccatgcCtttgtttgcttttgtggcat	6	15	12	8	0	0	1	0	1	0	0	0	2	0	2	3	3	2	3	3	3	0	4			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:48418349C>A	ENST00000376771.4	+	6	1394	c.1053C>A	c.(1051-1053)gcC>gcA	p.A351A	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.A97A	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	351	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						AGGGCCATGCCTTTGTTTGCT	0.582																																						.											0													48	32	38					X																	48418349		2203	4300	6503	SO:0001819	synonymous_variant	4943			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.1053C>A	X.37:g.48418349C>A			Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	CCDS35242.1																																																																																				0.582	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		A	48418349	C	A	48418349	2	1	49	1	0	0	0	0	0	0	0	1	15612	668	24	5		5	TBC1D25	23	48418349	Silent	SNP	C	TCGA-KN-8434-01A-11D-2310-10	16772542	48418349	106852211	65	4985											
GATA1	2623	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	48652278	48652278	+	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	ctggaaaagggaaaaagaaaCggggctccagtctgggaggc	14	4	16	7	1	1	1	0	0	1	1	2	4	2	4	1	6	1	1	1	6	5	0			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:48652278C>G	ENST00000376670.3	+	6	1060	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	317					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						GAAAAAGAAACGGGGCTCCAG	0.602			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	.		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													34	31	32					X																	48652278		2203	4300	6503	SO:0001583	missense	2623			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.949C>G	X.37:g.48652278C>G	ENSP00000365858:p.Arg317Gly		Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.621|9.621	1.133764|1.133764	0.21123|0.21123	.|.	.|.	ENSG00000102145|ENSG00000102145	ENST00000447551|ENST00000376670	.|D	.|0.97620	.|-4.46	3.08|3.08	1.12|1.12	0.20585|0.20585	.|.	.|0.150111	.|0.42420	.|U	.|0.000713	D|D	0.91112|0.91112	0.7202|0.7202	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.12156	.|0.007	T|T	0.82426|0.82426	-0.0463|-0.0463	5|10	.|0.34782	.|T	.|0.22	-2.7506|-2.7506	6.8314|6.8314	0.23913|0.23913	0.5023:0.4977:0.0:0.0|0.5023:0.4977:0.0:0.0	.|.	.|317	.|P15976	.|GATA1_HUMAN	K|G	81|317	.|ENSP00000365858:R317G	.|ENSP00000365858:R317G	N|R	+|+	3|1	2|2	GATA1|GATA1	48537222|48537222	0.956000|0.956000	0.32656|0.32656	0.059000|0.059000	0.19551|0.19551	0.776000|0.776000	0.43924|0.43924	-0.001000|-0.001000	0.12947|0.12947	0.159000|0.159000	0.19401|0.19401	0.365000|0.365000	0.22127|0.22127	AAC|CGG		0.602	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		G	48652278	C	G	48652278	3	3	49	1	0	0	0	0	1	0	0	0	6253	527	19	5	967	5	GATA1	23	48652278	Missense_Mutation	SNP	C	TCGA-KN-8434-01A-11D-2310-10	233929	48652278	106618282	66	4986											
IGSF1	3547	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	130409464	130409464	+	Missense_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	ccccttacctgtgactaggaGttccagggtgttgctaggtt	6	13	12	10	0	0	1	0	1	0	0	1	2	1	2	4	3	2	4	4	3	3	6			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:130409464G>A	ENST00000361420.3	-	16	3251	c.3172C>T	c.(3172-3174)Ctc>Ttc	p.L1058F	IGSF1_ENST00000370910.1_Missense_Mutation_p.L1049F|IGSF1_ENST00000370904.1_Missense_Mutation_p.L1049F|IGSF1_ENST00000370903.3_Missense_Mutation_p.L1063F|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1058	Ig-like C2-type 10.				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						GTGACTAGGAGTTCCAGGGTG	0.493																																						.											0													142	122	129					X																	130409464		2203	4300	6503	SO:0001583	missense	3547			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.3172C>T	X.37:g.130409464G>A	ENSP00000355010:p.Leu1058Phe		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984986	0.53934	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01745	4.66;4.66;4.66;4.66	5.32	5.32	0.75619	Immunoglobulin-like fold (1);	0.107595	0.42172	D	0.000759	T	0.13798	0.0334	M	0.90922	3.16	0.30618	N	0.758828	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.996	T	0.02813	-1.1107	10	0.72032	D	0.01	.	13.7707	0.63023	0.0:0.0:1.0:0.0	.	1049;502;1058	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	F	1049;1058;1049;1063	ENSP00000359947:L1049F;ENSP00000355010:L1058F;ENSP00000359941:L1049F;ENSP00000359940:L1063F	ENSP00000355010:L1058F	L	-	1	0	IGSF1	130237145	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.727000	0.61993	2.562000	0.86427	0.600000	0.82982	CTC		0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			A	130409464	G	A	130409464	3	1	49	1	0	0	0	0	1	0	0	0	7596	1029	36	4	858	4	IGSF1	23	130409464	Missense_Mutation	SNP	G	TCGA-KN-8434-01A-11D-2310-10	81757186	130409464	24861096	67	4987											
ZBTB48	3104	ucsc.edu;bcgsc.ca	37	chr1	6641321	6641321	+	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	aagtgcccccaaggcccttaGaggctgaaggtgcccagctg	9	6	13	13	0	0	2	0	1	0	1	0	2	0	2	4	3	3	2	4	3	4	1			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:6641321G>T	ENST00000377674.4	+	2	810	c.652G>T	c.(652-654)Gag>Tag	p.E218*		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	218					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)		AAGGCCCTTAGAGGCTGAAGG	0.572																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	.											0													26	28	27					1																	6641321		2203	4298	6501	SO:0001587	stop_gained	3104			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.652G>T	1.37:g.6641321G>T	ENSP00000366902:p.Glu218*		Q5SY19	Nonsense_Mutation	SNP	ENST00000377674.4	37	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586826	0.86851	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	.	.	.	5.74	3.54	0.40534	.	0.441142	0.25247	N	0.032043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-23.3543	8.1099	0.30909	0.0952:0.1648:0.74:0.0	.	.	.	.	X	218	.	ENSP00000313416:E218X	E	+	1	0	ZBTB48	6563908	0.123000	0.22298	0.922000	0.36590	0.540000	0.34992	0.465000	0.22004	1.423000	0.47198	-0.150000	0.13652	GAG		0.572	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		T	6641321	G	T	6641321	4	4	50	1	0	0	0	0	0	1	0	0	17546	943	33	5	654	5	ZBTB48	1	6641321	Nonsense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		6641321	242609300	1	4988											
PRAMEF7	441871	mdanderson.org	37	chr1	12980074	12980074	+	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	gagagttatgacacccagggTgctctctgctgggggagatt	8	10	15	8	0	1	3	0	1	1	2	2	5	1	3	1	3	2	3	1	3	1	2	rs139206769		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:12980074T>A	ENST00000361079.2	+	4	1349	c.1266T>A	c.(1264-1266)ggT>ggA	p.G422G	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	422					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)		ACACCCAGGGTGCTCTCTGCT	0.587																																						.											0													36	39	38					1																	12980074		1261	2762	4023	SO:0001819	synonymous_variant	441871				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.1266T>A	1.37:g.12980074T>A			B9EIP0	Silent	SNP	ENST00000361079.2	37	CCDS30593.1																																																																																				0.587	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		A	12980074	T	A	12980074	2	1	50	1	0	0	0	0	0	0	0	1	12439	1683	59	5		5	PRAMEF7	1	12980074	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	6338753	12980074	236270547	2	4989											
MED8	112950	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr1	43852260	43852260	+	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	agccaccagtcccatcatacCtccactctctgattctcgct	8	11	4	18	1	3	1	1	1	2	0	7	1	5	1	5	0	2	1	5	0	1	2			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:43852260C>T	ENST00000372457.4	-	5	536	c.493G>A	c.(493-495)Ggt>Agt	p.G165S	MED8_ENST00000290663.6_Splice_Site_p.G165S|RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000372455.4_Splice_Site_p.G76S	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	165					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)				CCCATCATACCTCCACTCTCT	0.423																																						.											0													178	156	164					1																	43852260		2203	4300	6503	SO:0001630	splice_region_variant	112950			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	ENST00000372457.4:c.493+1G>A	1.37:g.43852260C>T			A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	CCDS487.2	.	.	.	.	.	.	.	.	.	.	C	5.816	0.334799	0.11013	.	.	ENSG00000159479	ENST00000290663;ENST00000372457;ENST00000372455	.	.	.	5.89	4.97	0.65823	.	0.204896	0.50627	D	0.000103	T	0.24392	0.0591	N	0.02539	-0.55	0.47819	D	0.999526	B;B	0.26081	0.022;0.141	B;B	0.22753	0.018;0.041	T	0.11299	-1.0593	8	.	.	.	-13.9899	10.4361	0.44437	0.0:0.7956:0.1352:0.0692	.	165;165	Q96G25;Q96G25-2	MED8_HUMAN;.	S	165;165;76	.	.	G	-	1	0	MED8	43624847	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.270000	0.58896	1.495000	0.48549	0.555000	0.69702	GGT		0.423	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877	Missense_Mutation	T	43852260	C	T	43852260	5	4	50	1	0	0	0	0	0	0	1	0	9453	695	24	4	432	4	MED8	1	43852260	Splice_Site	SNP	C	TCGA-KN-8435-01A-11D-2310-10	30872186	43852260	205398361	3	4990											
KIAA0467	23334	bcgsc.ca	37	chr1	43908707	43908707	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagacctcctgatcctgTcacctaccatggacaacagt	10	8	7	16	0	1	2	1	1	0	1	3	3	3	3	6	1	2	0	6	1	2	1			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:43908707T>C	ENST00000562955.1	+	58	8198	c.8198T>C	c.(8197-8199)gTc>gCc	p.V2733A	SZT2_ENST00000372442.1_Missense_Mutation_p.V1891A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2790					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						CCTGATCCTGTCACCTACCAT	0.592																																						.											0													58	59	59					1																	43908707		2203	4300	6503	SO:0001583	missense	23334			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.8198T>C	1.37:g.43908707T>C	ENSP00000457168:p.Val2733Ala		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562597	0.65538	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.67	5.67	0.87782	.	0.065649	0.64402	D	0.000011	T	0.44074	0.1276	L	0.48642	1.525	0.32201	N	0.577808	P	0.43231	0.801	B	0.39805	0.31	T	0.61412	-0.7068	9	0.72032	D	0.01	.	14.4754	0.67541	0.0:0.0:0.0:1.0	.	2733	Q5T011-5	.	A	1891	.	ENSP00000361519:V1891A	V	+	2	0	SZT2	43681294	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.423000	0.80229	2.169000	0.68431	0.459000	0.35465	GTC		0.592	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		C	43908707	T	C	43908707	3	2	50	1	0	0	0	0	1	0	0	0	8178	1667	58	2	5838	2	KIAA0467	1	43908707	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	56447	43908707	205341914	4	4991											
COL11A1	1301	ucsc.edu	37	chr1	103453264	103453264	+	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	ttgggtccttcagggccatcTtcccctcttgggccaatttg	4	14	10	13	0	3	0	1	0	2	0	5	0	5	0	5	3	0	0	5	3	1	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:103453264T>C	ENST00000370096.3	-	30	2739	c.2427A>G	c.(2425-2427)gaA>gaG	p.E809E	COL11A1_ENST00000512756.1_Silent_p.E693E|COL11A1_ENST00000353414.4_Silent_p.E770E|COL11A1_ENST00000358392.2_Silent_p.E821E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	809	Triple-helical 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)		CAGGGCCATCTTCCCCTCTTG	0.453																																						.											0													89	85	86					1																	103453264		2203	4300	6503	SO:0001819	synonymous_variant	1301			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.2427A>G	1.37:g.103453264T>C			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	5.986	0.365772	0.11352	.	.	ENSG00000060718	ENST00000370090	.	.	.	4.4	0.842	0.18927	.	.	.	.	.	T	0.41213	0.1149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30090	-0.9990	5	0.31617	T	0.26	.	8.997	0.36059	0.0:0.2321:0.0:0.7679	.	.	.	.	R	24	.	ENSP00000359108:K24R	K	-	2	0	COL11A1	103225852	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.409000	0.34680	0.303000	0.22785	0.383000	0.25322	AAG		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		C	103453264	T	C	103453264	2	2	50	1	0	0	0	0	0	0	0	1	3667	1606	56	2		2	COL11A1	1	103453264	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	59544557	103453264	145797357	5	4992											
RBM15	64783	broad.mit.edu;hgsc.bcm.edu	37	chr1	110882695	110882713	+	Frame_Shift_Del	DEL	GGCGGCCAGAGGACGCGCG	GGCGGCCAGAGGACGCGCG	-																															ggtagcctttgtgaacttccGgcggccagaggacgcgcggg																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	GGCGGCCAGAGGACGCGCG	GGCGGCCAGAGGACGCGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:110882695_110882713delGGCGGCCAGAGGACGCGCG	ENST00000369784.3	+	1	1568_1586	c.668_686delGGCGGCCAGAGGACGCGCG	c.(667-687)cggcggccagaggacgcgcggfs	p.RRPEDAR223fs	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Frame_Shift_Del_p.RRPEDAR223fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.RRPEDAR223fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	223	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGAACTTCCGGCGGCCAGAGGACGCGCGGGCGGCCAAG	0.594			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0																																										SO:0001589	frameshift_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.668_686delGGCGGCCAGAGGACGCGCG	1.37:g.110882695_110882713delGGCGGCCAGAGGACGCGCG	ENSP00000358799:p.Arg223fs	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	CCDS822.1																																																																																				0.594	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		-	110882713	GGCGGCCAGAGGACGCGCG	-	110882695	7	5	50	1	0	1	0	1	0	0	0	0	13116	1116	39	0	670	0	RBM15	1	110882695	Frame_Shift_Del	DEL	GGCGGCCAGAGGACGCGCG	TCGA-KN-8435-01A-11D-2310-10	7429431	110882695	138367926	6	4993	123	2									
RBM15	64783	bcgsc.ca	37	chr1	110882696	110882714	+	Frame_Shift_Del	DEL	GGCGGCCAGAGGACGCGCG	GGCGGCCAGAGGACGCGCG	-																															gtagcctttgtgaacttccgGcggccagaggacgcgcgggc																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	GGCGGCCAGAGGACGCGCG	GGCGGCCAGAGGACGCGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:110882696_110882714delGGCGGCCAGAGGACGCGCG	ENST00000369784.3	+	1	1569_1587	c.669_687delGGCGGCCAGAGGACGCGCG	c.(667-687)cgggcggccagaggacgcgcgfs	p.RAARGRA223fs	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Frame_Shift_Del_p.RAARGRA223fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.RAARGRA223fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	223	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAACTTCCGGCGGCCAGAGGACGCGCGGGCGGCCAAGC	0.589			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0																																										SO:0001589	frameshift_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.669_687delGGCGGCCAGAGGACGCGCG	1.37:g.110882696_110882714delGGCGGCCAGAGGACGCGCG	ENSP00000358799:p.Arg223fs	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	CCDS822.1																																																																																				0.589	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		-	110882714	GGCGGCCAGAGGACGCGCG	-	110882696	7	5	50	1	0	1	0	1	0	0	0	0	13116	1190	42	0	671	0	RBM15	1	110882696	Frame_Shift_Del	DEL	GGCGGCCAGAGGACGCGCG	TCGA-KN-8435-01A-11D-2310-10	1	110882696	138367925	7	4994	123	2									
FCRLA	84824	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	161677131	161677131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggcccagatgctacTgggtaagtaaaatatttgaa	12	11	12	6	0	0	2	0	1	0	1	0	2	0	2	1	3	2	3	1	3	6	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr1:161677131T>C	ENST00000236938.6	+	1	370	c.128T>C	c.(127-129)cTg>cCg	p.L43P	FCRLA_ENST00000367957.2_Missense_Mutation_p.L43P|FCRLA_ENST00000367953.3_Missense_Mutation_p.L26P|FCRLA_ENST00000367949.2_Missense_Mutation_p.L43P|FCRLA_ENST00000540926.1_Missense_Mutation_p.L26P|FCRLA_ENST00000367950.1_Missense_Mutation_p.L3P|FCRLA_ENST00000309691.6_Missense_Mutation_p.L26P|FCRLA_ENST00000294796.4_Missense_Mutation_p.L26P|FCRLA_ENST00000367959.2_Missense_Mutation_p.L43P|FCRLA_ENST00000350710.3_Missense_Mutation_p.L43P|FCRLA_ENST00000540521.1_Missense_Mutation_p.L43P|FCRLA_ENST00000349527.4_Missense_Mutation_p.L26P|FCRLA_ENST00000546024.1_Missense_Mutation_p.L43P	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	26					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CAGATGCTACTGGGTAAGTAA	0.507																																						.											0													95	86	89					1																	161677131		2203	4300	6503	SO:0001583	missense	84824			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.128T>C	1.37:g.161677131T>C	ENSP00000236938:p.Leu43Pro		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.277899	0.23307	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56776	5.52;5.31;4.43;4.29;0.61;0.8;5.04;4.3;3.68;4.47;4.31;5.36;0.44	5.08	1.56	0.23342	.	0.398608	0.18668	N	0.134528	T	0.26846	0.0657	L	0.59436	1.845	0.23533	N	0.997473	B;B;B;P;B;B;B	0.40794	0.087;0.087;0.202;0.729;0.033;0.125;0.197	B;B;B;B;B;B;B	0.38880	0.063;0.063;0.12;0.284;0.027;0.028;0.119	T	0.10222	-1.0639	10	0.87932	D	0	.	6.5753	0.22562	0.0:0.2731:0.0:0.7269	.	43;43;43;43;43;43;43	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	P	43;43;43;43;43;43;26;43;26;26;26;26;3	ENSP00000236938:L43P;ENSP00000356936:L43P;ENSP00000439838:L43P;ENSP00000442870:L43P;ENSP00000356926:L43P;ENSP00000344808:L43P;ENSP00000446380:L26P;ENSP00000356934:L43P;ENSP00000294798:L26P;ENSP00000309596:L26P;ENSP00000294796:L26P;ENSP00000356930:L26P;ENSP00000356927:L3P	ENSP00000236938:L43P	L	+	2	0	FCRLA	159943755	0.104000	0.21937	0.070000	0.20053	0.074000	0.17049	0.355000	0.20163	0.167000	0.19631	0.533000	0.62120	CTG		0.507	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		C	161677131	T	C	161677131	3	2	50	1	0	0	0	0	1	0	0	0	5800	1580	55	2	130	2	FCRLA	1	161677131	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	50794435	161677131	87573490	8	4995											
COL3A1	1281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	189873717	189873717	+	Missense_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	tgcccctggtccttgctgtgGtggtgttggagccgctgcca	2	12	15	12	1	0	0	0	0	0	0	1	1	1	1	5	4	4	3	5	4	0	2			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr2:189873717G>A	ENST00000304636.3	+	48	3763	c.3593G>A	c.(3592-3594)gGt>gAt	p.G1198D	COL3A1_ENST00000317840.5_Missense_Mutation_p.G895D	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1198	Nonhelical region (C-terminal).				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)	CCTTGCTGTGGTGGTGTTGGA	0.542																																						.											0													71	79	76					2																	189873717		2203	4300	6503	SO:0001583	missense	1281			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.3593G>A	2.37:g.189873717G>A	ENSP00000304408:p.Gly1198Asp		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	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793993	0.50102	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.90261	-2.52;-2.64	5.54	4.66	0.58398	.	.	.	.	.	T	0.77624	0.4158	N	0.08118	0	0.37055	D	0.897788	B	0.06786	0.001	B	0.04013	0.001	T	0.70898	-0.4747	9	0.09084	T	0.74	.	9.9195	0.41455	0.0729:0.149:0.7781:0.0	.	1198	P02461	CO3A1_HUMAN	D	1198;895	ENSP00000304408:G1198D;ENSP00000315243:G895D	ENSP00000304408:G1198D	G	+	2	0	COL3A1	189581962	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	8.061000	0.89467	1.310000	0.45006	0.655000	0.94253	GGT		0.542	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189873717	G	A	189873717	3	1	50	1	0	0	0	0	1	0	0	0	3688	1261	44	3	3783	3	COL3A1	2	189873717	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		189873717	53325656	9	4996											
CYP20A1	57404	bcgsc.ca	37	chr2	204161576	204161576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttattgaaacaaagtatgAactggtaacatcatcaaggg	16	10	10	5	0	2	2	2	2	0	0	2	2	2	2	0	3	3	3	0	3	7	4			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr2:204161576A>G	ENST00000356079.4	+	13	1457	c.1334A>G	c.(1333-1335)gAa>gGa	p.E445G	CYP20A1_ENST00000429815.2_Missense_Mutation_p.E453G|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	445						integral component of membrane (GO:0016021)|membrane (GO:0016020)	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)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						ACAAAGTATGAACTGGTAACA	0.348																																						.											0													107	106	106					2																	204161576		2203	4300	6503	SO:0001583	missense	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1334A>G	2.37:g.204161576A>G	ENSP00000348380:p.Glu445Gly		Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896548	0.72639	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	T;T	0.70282	-0.47;-0.47	5.63	5.63	0.86233	.	0.052405	0.64402	D	0.000001	T	0.61714	0.2369	L	0.31664	0.95	0.80722	D	1	P;B	0.34977	0.478;0.029	B;B	0.37601	0.254;0.036	T	0.59359	-0.7469	10	0.23302	T	0.38	-18.0972	15.8391	0.78831	1.0:0.0:0.0:0.0	.	453;445	E9PHG5;Q6UW02	.;CP20A_HUMAN	G	445;418;453	ENSP00000348380:E445G;ENSP00000407860:E453G	ENSP00000348380:E445G	E	+	2	0	CYP20A1	203869821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.183000	0.89700	2.134000	0.65973	0.482000	0.46254	GAA		0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		G	204161576	A	G	204161576	3	3	50	1	0	0	0	0	1	0	0	0	4152	246	9	4	1384	4	CYP20A1	2	204161576	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	14287859	204161576	39037797	10	4997											
AQP12A	375318	mdanderson.org	37	chr2	241631668	241631668	+	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	agtctctgcctggcacgctgTtgaagctggcggcacagggg	6	8	16	11	2	1	1	0	1	1	0	2	1	1	1	1	5	2	5	1	5	1	1	rs4343462	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr2:241631668T>C	ENST00000337801.4	+	2	370	c.301T>C	c.(301-303)Ttg>Ctg	p.L101L	AQP12A_ENST00000429564.1_Silent_p.L113L|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	101						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		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;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)		TGGCACGCTGTTGAAGCTGGC	0.682													N|||	46	0.0091853	0.0295	0.0058	5008	,	,		13571	0.002		0.001	False		,,,				2504	0					.											0										55,4087		4,47,2020	26	36	33		301	1.6	0.8	2	dbSNP_111	33	6,8504		0,6,4249	no	coding-synonymous	AQP12A	NM_198998.1		4,53,6269	CC,CT,TT		0.0705,1.3279,0.4821		101/296	241631668	61,12591	2071	4255	6326	SO:0001819	synonymous_variant	375318			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.301T>C	2.37:g.241631668T>C				Silent	SNP	ENST00000337801.4	37																																																																																					0.682	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		C	241631668	T	C	241631668	2	2	50	1	0	0	0	0	0	0	0	1	824	1722	60	2		2	AQP12A	2	241631668	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	37470092	241631668	1567705	11	4998											
CLASP2	23122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	33686372	33686372	+	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	tggcctatttccatccactgAttcttcatcatcgaagcttt	8	16	5	12	1	3	1	2	1	1	0	6	2	5	1	3	1	1	1	3	1	2	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:33686372A>T	ENST00000468888.2	-	8	785	c.739T>A	c.(739-741)Tca>Aca	p.S247T	CLASP2_ENST00000399362.4_Missense_Mutation_p.S247T|CLASP2_ENST00000313350.6_Missense_Mutation_p.S20T|CLASP2_ENST00000333778.6_Missense_Mutation_p.S24T|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000359576.5_Missense_Mutation_p.S247T|CLASP2_ENST00000487200.1_Missense_Mutation_p.S20T|CLASP2_ENST00000480013.1_Missense_Mutation_p.S14T|CLASP2_ENST00000539981.1_Missense_Mutation_p.S20T|CLASP2_ENST00000461133.3_Missense_Mutation_p.S14T			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	14					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						CCATCCACTGATTCTTCATCA	0.403																																						.											0													84	77	79					3																	33686372		1908	4136	6044	SO:0001583	missense	23122			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.739T>A	3.37:g.33686372A>T	ENSP00000419974:p.Ser247Thr		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	A	22.9	4.353402	0.82243	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778;ENST00000485378;ENST00000496954	T;T;T	0.20463	2.07;2.12;2.13	5.83	5.83	0.93111	.	0.260982	0.38164	N	0.001783	T	0.39860	0.1094	L	0.49778	1.585	0.80722	D	1	D;D;D;P	0.69078	0.995;0.995;0.997;0.954	P;P;D;D	0.66351	0.849;0.849;0.928;0.943	T	0.16660	-1.0395	10	0.87932	D	0	-15.3362	14.7605	0.69602	1.0:0.0:0.0:0.0	.	24;20;20;247	E7ENG2;B3KR06;O75122-2;F5H604	.;.;.;.	T	247;247;247;20;14;14;20;20;24;20;14	ENSP00000419974:S247T;ENSP00000382297:S247T;ENSP00000352581:S247T	ENSP00000324364:S20T	S	-	1	0	CLASP2	33661376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.188000	0.65093	2.222000	0.72286	0.477000	0.44152	TCA		0.403	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		T	33686372	A	T	33686372	3	4	50	1	0	0	0	0	1	0	0	0	3455	333	12	5	3905	5	CLASP2	3	33686372	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10		33686372	164336058	12	4999											
MON1A	84315	broad.mit.edu	37	chr3	49967246	49967246	+	Frame_Shift_Del	DEL	G	G	-																															gccgccggtgcaggaagataGctttcgccggcctctcgcgg																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:49967246delG	ENST00000296473.3	-	1	332	c.74delC	c.(73-75)gctfs	p.A25fs	MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000417270.1_5'UTR|MON1A_ENST00000455683.2_Frame_Shift_Del_p.A25fs	NM_032355.3	NP_115731.2	Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	0										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGGAAGATAGCTTTCGCCGG	0.706																																						.											0													1	3	2					3																	49967246		457	1201	1658	SO:0001589	frameshift_variant	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000296473.3:c.74delC	3.37:g.49967246delG	ENSP00000296473:p.Ala25fs		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Frame_Shift_Del	DEL	ENST00000296473.3	37	CCDS2808.2																																																																																				0.706	MON1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345534.2	NM_032355		-	49967246	G	-	49967246	7	5	50	1	0	1	0	1	0	0	0	0	9698	971	34	0	1908	0	MON1A	3	49967246	Frame_Shift_Del	DEL	G	TCGA-KN-8435-01A-11D-2310-10	16280874	49967246	148055184	13	5000											
ABHD10	55347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	111710501	111710501	+	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	tcaccgaatgagggaaaaagCagacattcaacttcttgttt	14	11	8	8	1	3	2	2	1	1	1	3	4	3	3	1	1	2	2	1	1	4	4			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:111710501C>A	ENST00000273359.3	+	5	881	c.854C>A	c.(853-855)gCa>gAa	p.A285E	ABHD10_ENST00000534857.1_Missense_Mutation_p.A128E	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	285					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						AGGGAAAAAGCAGACATTCAA	0.388																																						.											0													110	95	100					3																	111710501		2203	4300	6503	SO:0001583	missense	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.854C>A	3.37:g.111710501C>A	ENSP00000273359:p.Ala285Glu		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558635	0.27827	.	.	ENSG00000144827	ENST00000534857;ENST00000273359	T;T	0.35605	1.3;1.3	5.83	4.89	0.63831	.	0.162113	0.53938	D	0.000041	T	0.13543	0.0328	N	0.02751	-0.505	0.39385	D	0.966326	B	0.06786	0.001	B	0.10450	0.005	T	0.16394	-1.0404	10	0.02654	T	1	-13.2051	11.1048	0.48197	0.3475:0.6525:0.0:0.0	.	285	Q9NUJ1	ABHDA_HUMAN	E	128;285	ENSP00000442932:A128E;ENSP00000273359:A285E	ENSP00000273359:A285E	A	+	2	0	ABHD10	113193191	1.000000	0.71417	0.965000	0.40720	0.886000	0.51366	4.440000	0.59975	2.771000	0.95319	0.591000	0.81541	GCA		0.388	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		A	111710501	C	A	111710501	3	1	50	1	0	0	0	0	1	0	0	0	74	710	25	5	872	5	ABHD10	3	111710501	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	61743255	111710501	86311929	14	5001											
CCRL1	51554	broad.mit.edu	37	chr3	132320028	132320029	+	Frame_Shift_Ins	INS	-	-	G																															taacattgtcaagttctgccINSgagccatagacatcatctac																								rs142433574	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:132320028_132320029insG	ENST00000249887.2	+	2	883_884	c.787_788insG	c.(787-789)cgafs	p.R263fs	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	263					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CAAGTTCTGCCGAGCCATAGAC	0.446																																						.											0																																										SO:0001589	frameshift_variant	51554			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.788dupG	3.37:g.132320029_132320029dupG	ENSP00000249887:p.Arg263fs		B2R9U7	Frame_Shift_Ins	INS	ENST00000249887.2	37	CCDS3075.1																																																																																				0.446	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		G	132320029	-	G	132320028	7	5	50	1	0	1	1	0	0	0	0	0	2949	644	23	0	789	0	CCRL1	3	132320028	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	20609527	132320028	65702402	15	5002											
C3orf33	285315	bcgsc.ca	37	chr3	155485327	155485327	+	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	cagaagatagcaaaagagtgCtgaattctcctttccaagaa	16	9	8	8	0	1	5	0	1	1	4	3	5	2	5	2	0	2	2	2	0	7	3			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:155485327C>T	ENST00000340171.2	-	4	552	c.454G>A	c.(454-456)Gca>Aca	p.A152T	C3orf33_ENST00000534941.1_Missense_Mutation_p.A109T			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	152					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAAAGAGTGCTGAATTCTCC	0.358																																						.											0													138	105	115					3																	155485327		1859	4101	5960	SO:0001583	missense	285315			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.454G>A	3.37:g.155485327C>T	ENSP00000342512:p.Ala152Thr		A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37		.	.	.	.	.	.	.	.	.	.	C	10.84	1.463087	0.26248	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.28666	1.6;1.6	5.28	-2.47	0.06442	Staphylococcal nuclease (SNase-like) (1);	0.655301	0.15921	N	0.238120	T	0.14485	0.0350	L	0.28192	0.835	0.09310	N	0.999999	B	0.16603	0.018	B	0.10450	0.005	T	0.24261	-1.0165	10	0.17369	T	0.5	-16.3589	4.5596	0.12154	0.2285:0.434:0.0:0.3375	.	152	Q6P1S2	CC033_HUMAN	T	109;152;152	ENSP00000445446:A109T;ENSP00000342512:A152T	ENSP00000342512:A152T	A	-	1	0	C3orf33	156968021	0.227000	0.23707	0.117000	0.21633	0.976000	0.68499	0.700000	0.25601	-0.242000	0.09667	0.591000	0.81541	GCA		0.358	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		T	155485327	C	T	155485327	3	4	50	1	0	0	0	0	1	0	0	0	2223	797	28	4	438	4	C3orf33	3	155485327	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	23165299	155485327	42537103	16	5003											
PAK2	5062	mdanderson.org	37	chr3	196530013	196530013	+	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	tccaacacagtgaagcagaaAtatctgagctttactcctcc	13	10	6	12	0	1	3	0	2	1	1	4	3	4	3	3	0	4	2	3	0	5	3	rs73205842	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr3:196530013A>G	ENST00000327134.3	+	4	736	c.414A>G	c.(412-414)aaA>aaG	p.K138K		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	138					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		TGAAGCAGAAATATCTGAGCT	0.418																																						.											0													92	84	87					3																	196530013		2203	4300	6503	SO:0001819	synonymous_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.414A>G	3.37:g.196530013A>G			Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																				0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		G	196530013	A	G	196530013	2	3	50	1	0	0	0	0	0	0	0	1	11401	98	4	4		4	PAK2	3	196530013	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	41044686	196530013	1492417	17	5004											
NAT8L	339983	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	2065597	2065597	+	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	tgcggatgtctgtggactcaCgtttccgaggcaagggcatc	7	10	14	10	3	2	0	1	0	1	0	4	3	3	2	1	4	1	3	1	4	1	1			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr4:2065597C>T	ENST00000423729.2	+	3	652	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	NAT8L_ENST00000331662.3_Missense_Mutation_p.R50C	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	218	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGTGGACTCACGTTTCCGAGG	0.667																																						.											0													81	61	67					4																	2065597		2202	4300	6502	SO:0001583	missense	339983			AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.652C>T	4.37:g.2065597C>T	ENSP00000413064:p.Arg218Cys			Missense_Mutation	SNP	ENST00000423729.2	37	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755264	0.69648	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.23348	1.91;1.91	5.54	4.61	0.57282	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.475646	0.21667	U	0.070925	T	0.39989	0.1099	L	0.46157	1.445	0.51767	D	0.999932	D	0.76494	0.999	D	0.65987	0.94	T	0.10543	-1.0625	10	0.62326	D	0.03	-20.8764	10.9382	0.47257	0.3955:0.6045:0.0:0.0	.	218	Q8N9F0	NAT8L_HUMAN	C	218;50	ENSP00000413064:R218C;ENSP00000328464:R50C	ENSP00000328464:R50C	R	+	1	0	NAT8L	2035395	0.977000	0.34250	0.986000	0.45419	0.509000	0.34042	3.848000	0.55903	2.604000	0.88044	0.450000	0.29827	CGT		0.667	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		T	2065597	C	T	2065597	3	4	50	1	0	0	0	0	1	0	0	0	10181	536	19	1	662	1	NAT8L	4	2065597	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10		2065597	189088679	18	5005											
SMARCA5	8467	hgsc.bcm.edu	37	chr4	144442709	144442710	+	Frame_Shift_Ins	INS	-	-	A																															aaaccagggcgcccacgaatINSaaaaaaagatgagaagcaga																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr4:144442709_144442710insA	ENST00000283131.3	+	3	842_843	c.380_381insA	c.(379-384)ataaaafs	p.IK127fs		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	127					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)					CGCCCACGAATAAAAAAAGATG	0.381																																						.											0																																										SO:0001589	frameshift_variant	8467			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.387dupA	4.37:g.144442716_144442716dupA	ENSP00000283131:p.Ile127fs			Frame_Shift_Ins	INS	ENST00000283131.3	37	CCDS3761.1																																																																																				0.381	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			A	144442710	-	A	144442709	7	5	50	1	0	1	1	0	0	0	0	0	14771	1406	49	0	390	0	SMARCA5	4	144442709	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	142377112	144442709	46711567	19	5006	124	2									
SMARCA5	8467	bcgsc.ca	37	chr4	144442710	144442711	+	Frame_Shift_Ins	INS	-	-	A																															aaccagggcgcccacgaataINSaaaaaagatgagaagcagaa																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr4:144442710_144442711insA	ENST00000283131.3	+	3	843_844	c.381_382insA	c.(382-384)aaafs	p.K128fs		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	128					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)					GCCCACGAATAAAAAAAGATGA	0.386																																						.											0																																										SO:0001589	frameshift_variant	8467			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.387dupA	4.37:g.144442716_144442716dupA	ENSP00000283131:p.Lys128fs			Frame_Shift_Ins	INS	ENST00000283131.3	37	CCDS3761.1																																																																																				0.386	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			A	144442711	-	A	144442710	7	5	50	1	0	1	1	0	0	0	0	0	14771	352	13	0	391	0	SMARCA5	4	144442710	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	1	144442710	46711566	20	5007	124	2									
ETFDH	2110	mdanderson.org	37	chr4	159601752	159601752	+	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	ccccgggataaggacaagagAtgggaaggtaagtaataatt	16	7	13	5	1	0	1	0	0	0	1	0	5	0	4	2	4	0	2	2	4	6	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr4:159601752A>G	ENST00000511912.1	+	2	500	c.168A>G	c.(166-168)agA>agG	p.R56R	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	56					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGGACAAGAGATGGGAAGGTA	0.333																																						.											0													102	97	99					4																	159601752		2203	4298	6501	SO:0001819	synonymous_variant	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.168A>G	4.37:g.159601752A>G			B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089012	0.36855	.	.	ENSG00000171503	ENST00000512251	.	.	.	5.54	3.05	0.35203	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63296	-0.6669	5	0.87932	D	0	-20.4541	8.1689	0.31243	0.7941:0.1352:0.0707:0.0	.	.	.	.	G	36	.	ENSP00000425661:D36G	D	+	2	0	ETFDH	159821202	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	3.251000	0.51453	0.456000	0.26937	0.482000	0.46254	GAT		0.333	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			G	159601752	A	G	159601752	2	3	50	1	0	0	0	0	0	0	0	1	5271	330	12	4		4	ETFDH	4	159601752	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	15159042	159601752	31552524	21	5008											
SLC25A46	91137	broad.mit.edu	37	chr5	110097244	110097244	+	Missense_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	attggaaacagttttgcaccGccttcacattcaaggaacac	13	10	7	11	1	2	0	2	0	0	0	2	2	2	2	2	2	3	2	2	2	3	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr5:110097244G>A	ENST00000355943.3	+	8	1145	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	SLC25A46_ENST00000509432.1_Missense_Mutation_p.R127H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.R194H|SLC25A46_ENST00000447245.2_Missense_Mutation_p.R259H|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.R249H|SLC25A46_ENST00000513807.1_Missense_Mutation_p.R178H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	340					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)		GTTTTGCACCGCCTTCACATT	0.393																																						.											0													255	242	246					5																	110097244		2202	4300	6502	SO:0001583	missense	91137			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.1019G>A	5.37:g.110097244G>A	ENSP00000348211:p.Arg340His		A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985424	0.93044	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098;ENST00000509432	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.044516	0.85682	D	0.000000	D	0.93657	0.7974	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.94518	0.7724	10	0.87932	D	0	-9.4977	19.8594	0.96778	0.0:0.0:1.0:0.0	.	249;340	B4DY98;Q96AG3	.;S2546_HUMAN	H	178;249;340;194;259;194;127	ENSP00000421134:R178H;ENSP00000424136:R249H;ENSP00000348211:R340H;ENSP00000399717:R259H;ENSP00000425708:R194H;ENSP00000426604:R127H	ENSP00000348211:R340H	R	+	2	0	SLC25A46	110125143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.897000	0.92532	2.691000	0.91804	0.650000	0.86243	CGC		0.393	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		A	110097244	G	A	110097244	3	1	50	1	0	0	0	0	1	0	0	0	14511	1087	38	1	1049	1	SLC25A46	5	110097244	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		110097244	70818016	22	5009											
PCDHA6	56142	mdanderson.org	37	chr5	140208909	140208909	+	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	tactcgttggtgctggacagTgccctggaccgcgagagcgt	6	9	15	11	4	0	1	0	0	0	1	1	4	0	3	2	3	4	2	2	3	1	2	rs664837	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr5:140208909T>C	ENST00000529310.1	+	1	1347	c.1233T>C	c.(1231-1233)agT>agC	p.S411S	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.S411S|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	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACAGTGCCCTGGACC	0.622													.|||	3	0.000599042	0	0.0043	5008	,	,		20184	0		0	False		,,,				2504	0					.											0													148	146	147					5																	140208909		2203	4300	6503	SO:0001819	synonymous_variant	56142			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.1233T>C	5.37:g.140208909T>C			O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																				0.622	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		C	140208909	T	C	140208909	2	2	50	1	0	0	0	0	0	0	0	1	11528	1693	59	2		2	PCDHA6	5	140208909	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	30111665	140208909	40706351	23	5010											
DOCK2	1794	mdanderson.org	37	chr5	169504743	169504743	+	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	gacgacaggagagtgggccgTcccaggtctatgctgcgctc	7	7	15	12	3	1	1	0	0	1	1	3	4	2	1	2	3	2	2	2	3	1	1	rs1045168	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr5:169504743T>C	ENST00000256935.8	+	48	4976	c.4896T>C	c.(4894-4896)cgT>cgC	p.R1632R	DOCK2_ENST00000520908.1_Silent_p.R1124R|DOCK2_ENST00000540750.1_Silent_p.R693R|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1632					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1632R(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTGGGCCGTCCCAGGTCTA	0.577													C|||	1458	0.291134	0.3782	0.2579	5008	,	,		15757	0.1071		0.334	False		,,,				2504	0.3425					.											1	Substitution - coding silent(1)	stomach(1)						C		1660,2746	658.5+/-400.4	303,1054,846	132	119	124		4896	-5.4	0.9	5	dbSNP_86	124	2650,5950	685.7+/-404.1	414,1822,2064	no	coding-synonymous	DOCK2	NM_004946.2		717,2876,2910	CC,CT,TT		30.814,37.6759,33.1386		1632/1831	169504743	4310,8696	2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4896T>C	5.37:g.169504743T>C			Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.577	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169504743	T	C	169504743	2	2	50	1	0	0	0	0	0	0	0	1	4687	1654	58	2		2	DOCK2	5	169504743	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	29295834	169504743	11410517	24	5011											
DPCR1	135656	broad.mit.edu	37	chr6	30917845	30917845	+	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	ggccaatgagaacaccacacCatccccagcagagcctacag	14	3	8	16	0	0	2	0	1	0	2	1	3	1	2	6	1	4	1	6	1	3	1			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:30917845C>T	ENST00000462446.1	+	2	1632	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	280						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AACACCACACCATCCCCAGCA	0.512																																						.											0													83	92	89					6																	30917845		692	1591	2283	SO:0001583	missense	135656			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.1604C>T	6.37:g.30917845C>T	ENSP00000417182:p.Pro535Leu		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	-	1.979	-0.434705	0.04669	.	.	ENSG00000168631	ENST00000462446	T	0.46451	0.87	2.42	-3.88	0.04205	.	.	.	.	.	T	0.13286	0.0322	M	0.69823	2.125	0.09310	N	0.999999	B	0.18741	0.03	B	0.17979	0.02	T	0.28267	-1.0049	9	0.30078	T	0.28	.	0.5003	0.00578	0.2318:0.1654:0.3276:0.2752	.	535	E9PEI6	.	L	535	ENSP00000417182:P535L	ENSP00000417182:P535L	P	+	2	0	DPCR1	31025824	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.305000	0.08188	-1.062000	0.03181	0.538000	0.68166	CCA		0.512	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		T	30917845	C	T	30917845	3	4	50	1	0	0	0	0	1	0	0	0	4712	594	21	4	1610	4	DPCR1	6	30917845	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10		30917845	140197222	25	5012											
CD109	135228	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr6	74520746	74520746	+	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	ggctttaaaggctctgtctgAatttgcagccctaatgaata	11	13	9	8	0	2	2	0	2	2	0	2	2	2	2	1	2	2	3	1	2	6	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:74520746A>C	ENST00000287097.5	+	28	3690	c.3578A>C	c.(3577-3579)gAa>gCa	p.E1193A	CD109_ENST00000437994.2_Missense_Mutation_p.E1193A|CD109_ENST00000422508.2_Missense_Mutation_p.E1116A			Q6YHK3	CD109_HUMAN	CD109 molecule	1193					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTCTGTCTGAATTTGCAGCC	0.398																																						.											0													115	115	115					6																	74520746		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3578A>C	6.37:g.74520746A>C	ENSP00000287097:p.Glu1193Ala		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	9.542	1.113523	0.20795	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.39592	1.07;1.07;1.07	5.2	4.04	0.47022	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.554792	0.20420	N	0.092694	T	0.11410	0.0278	L	0.31578	0.945	0.26257	N	0.978636	B;B;B	0.32350	0.366;0.125;0.022	B;B;B	0.29785	0.107;0.072;0.098	T	0.05257	-1.0896	10	0.23891	T	0.37	.	6.0642	0.19854	0.5255:0.3335:0.0:0.141	.	1116;1193;1193	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	A	1193;1116;1193	ENSP00000388062:E1193A;ENSP00000404475:E1116A;ENSP00000287097:E1193A	ENSP00000287097:E1193A	E	+	2	0	CD109	74577467	0.107000	0.21998	1.000000	0.80357	0.963000	0.63663	0.782000	0.26788	2.180000	0.69256	0.533000	0.62120	GAA		0.398	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		C	74520746	A	C	74520746	3	2	50	1	0	0	0	0	1	0	0	0	2963	246	9	5	3688	5	CD109	6	74520746	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	43602901	74520746	96594321	26	5013											
RIPPLY2	134701	broad.mit.edu	37	chr6	84567032	84567033	+	Frame_Shift_Ins	INS	-	-	A																															gctcttctgaaaaattttccINSaattcaagccacaatttcat																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:84567032_84567033insA	ENST00000369689.1	+	4	462_463	c.311_312insA	c.(310-315)ccaattfs	p.I105fs	RIPPLY2_ENST00000369687.1_Frame_Shift_Ins_p.I47fs|CYB5R4_ENST00000369681.5_5'Flank|CYB5R4_ENST00000369679.4_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	105	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						AAAAATTTTCCAATTCAAGCCA	0.297																																						.											0																																										SO:0001589	frameshift_variant	134701			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.313dupA	6.37:g.84567034_84567034dupA	ENSP00000358703:p.Ile105fs		Q5TAB6	Frame_Shift_Ins	INS	ENST00000369689.1	37	CCDS34493.1																																																																																				0.297	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		A	84567033	-	A	84567032	7	5	50	1	0	1	1	0	0	0	0	0	13385	594	21	0	325	0	RIPPLY2	6	84567032	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	10046286	84567032	86548035	27	5014											
GJA1	2697	mdanderson.org	37	chr6	121769050	121769050	+	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	aactagctgctggacatgaaTtacagccactagccattgtg	12	10	9	10	0	0	1	0	1	0	0	0	2	0	2	2	1	6	2	2	1	5	4			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:121769050T>C	ENST00000282561.3	+	2	1214	c.1057T>C	c.(1057-1059)Tta>Cta	p.L353L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	353					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)	TGGACATGAATTACAGCCACT	0.522																																						.											0													54	60	58					6																	121769050		2199	4298	6497	SO:0001819	synonymous_variant	2697			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.1057T>C	6.37:g.121769050T>C			B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	ENST00000282561.3	37	CCDS5123.1																																																																																				0.522	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		C	121769050	T	C	121769050	2	2	50	1	0	0	0	0	0	0	0	1	6400	1490	52	4		4	GJA1	6	121769050	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	37202018	121769050	49346017	28	5015											
KIAA1244	57221	bcgsc.ca	37	chr6	138655499	138655499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacggccgagcaagtgaagaAggtcctttttgaggacgacg	11	7	14	9	4	0	3	0	2	0	1	1	6	1	4	2	3	1	1	2	3	3	2			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr6:138655499A>G	ENST00000251691.4	+	33	5682	c.5516A>G	c.(5515-5517)aAg>aGg	p.K1839R		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)		CAAGTGAAGAAGGTCCTTTTT	0.522																																						.											0													40	38	38					6																	138655499		2203	4300	6503	SO:0001583	missense	57221			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.5516A>G	6.37:g.138655499A>G	ENSP00000251691:p.Lys1839Arg			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	9.628	1.135731	0.21123	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.19105	2.17	4.99	2.6	0.31112	.	0.644286	0.16619	N	0.206574	T	0.04182	0.0116	N	0.19112	0.55	0.45690	D	0.998602	B	0.02656	0.0	B	0.04013	0.001	T	0.31308	-0.9948	10	0.17832	T	0.49	-23.402	8.9846	0.35986	0.8474:0.0:0.1526:0.0	.	1839	Q5TH69	BIG3_HUMAN	R	1839;4	ENSP00000251691:K1839R	ENSP00000251691:K1839R	K	+	2	0	KIAA1244	138697192	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.452000	0.44961	0.273000	0.22049	0.338000	0.21704	AAG		0.522	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		G	138655499	A	G	138655499	3	3	50	1	0	0	0	0	1	0	0	0	8217	72	3	2	5646	2	KIAA1244	6	138655499	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	16886449	138655499	32459568	29	5016											
DAGLB	221955	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	6452490	6452490	+	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	cgcaagattcttctcttcagAtcttccaagttggtcacact	9	14	6	12	1	5	2	2	0	3	2	7	2	6	2	1	1	0	2	1	1	2	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr7:6452490A>T	ENST00000297056.6	-	13	1690	c.1521T>A	c.(1519-1521)gaT>gaA	p.D507E	DAGLB_ENST00000425398.2_Missense_Mutation_p.D378E|DAGLB_ENST00000428902.2_Missense_Mutation_p.S367T|DAGLB_ENST00000436575.1_Missense_Mutation_p.D466E	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	507					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)		TTCTCTTCAGATCTTCCAAGT	0.592																																						.											0													72	58	62					7																	6452490		2202	4297	6499	SO:0001583	missense	221955			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.1521T>A	7.37:g.6452490A>T	ENSP00000297056:p.Asp507Glu		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	CCDS5350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.54|10.54	1.379977|1.379977	0.24944|0.24944	.|.	.|.	ENSG00000164535|ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575|ENST00000428902	T;T;T|.	0.48201|.	0.84;0.82;0.84|.	5.52|5.52	-5.44|-5.44	0.02624|0.02624	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71178|0.71178	0.3309|0.3309	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999|.	D;D;D;D|.	0.91635|.	0.994;0.999;0.979;0.997|.	T|T	0.75510|0.75510	-0.3292|-0.3292	10|6	0.14656|0.41790	T|T	0.56|0.15	-6.0701|-6.0701	17.3302|17.3302	0.87261|0.87261	0.3927:0.0:0.6073:0.0|0.3927:0.0:0.6073:0.0	.|.	378;321;507;204|.	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0|.	.;.;DGLB_HUMAN;.|.	E|T	507;378;466|367	ENSP00000297056:D507E;ENSP00000391171:D378E;ENSP00000404785:D466E|.	ENSP00000297056:D507E|ENSP00000416046:S367T	D|S	-|-	3|1	2|0	DAGLB|DAGLB	6419015|6419015	0.039000|0.039000	0.19947|0.19947	0.030000|0.030000	0.17652|0.17652	0.718000|0.718000	0.41266|0.41266	-0.352000|-0.352000	0.07701|0.07701	-0.913000|-0.913000	0.03832|0.03832	-0.250000|-0.250000	0.11733|0.11733	GAT|TCT		0.592	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		T	6452490	A	T	6452490	3	4	50	1	0	0	0	0	1	0	0	0	4227	330	12	5	509	5	DAGLB	7	6452490	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10		6452490	152686173	30	5017											
HOXA9	3205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	27204514	27204514	+	Missense_Mutation	SNP	T	T	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	tactgggatcgatggggggcTtgtctccgccgctctcattc	4	12	13	12	3	2	0	1	0	2	0	6	2	2	1	2	4	1	2	2	4	1	3			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr7:27204514T>C	ENST00000343483.6	-	1	635	c.563A>G	c.(562-564)aAg>aGg	p.K188R	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.K28R|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	188					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GATGGGGGGCTTGTCTCCGCC	0.582			T	"NUP98, MSI2"	AML*																																	.		Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													49	56	53					7																	27204514		2203	4300	6503	SO:0001583	missense	3205				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.563A>G	7.37:g.27204514T>C	ENSP00000343619:p.Lys188Arg		O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569468	0.65765	.	.	ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000242050;ENST00000470747	D;D	0.94576	-3.37;-3.46	5.86	5.86	0.93980	Hox9, N-terminal activation domain (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000005	D	0.95582	0.8564	M	0.89534	3.04	0.80722	D	1	B	0.21520	0.057	B	0.26614	0.071	D	0.93911	0.7197	10	0.72032	D	0.01	.	16.2433	0.82426	0.0:0.0:0.0:1.0	.	188	P31269	HXA9_HUMAN	R	188;179;28	ENSP00000343619:K188R;ENSP00000421799:K28R	ENSP00000242050:K179R	K	-	2	0	RP1-170O19.20;HOXA9	27171039	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.283000	0.78640	2.242000	0.73789	0.459000	0.35465	AAG		0.582	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			C	27204514	T	C	27204514	3	2	50	1	0	0	0	0	1	0	0	0	7298	1609	56	2	263	2	HOXA9	7	27204514	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	20752024	27204514	131934149	31	5018											
ZHX1	11244	mdanderson.org	37	chr8	124267138	124267138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgtttccttcttgccTcctctacttcctcgggagtc	4	17	7	13	1	2	1	0	1	2	0	7	2	5	2	4	1	2	1	4	1	2	6			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr8:124267138T>C	ENST00000522655.1	-	3	1589	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.E350G|ZHX1_ENST00000395571.3_Missense_Mutation_p.E350G			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	350	Required for dimerization.|Required for interaction with NFYA.				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)			CCTTCTTGCCTCCTCTACTTC	0.413																																						.											0													237	203	215					8																	124267138		2203	4300	6503	SO:0001583	missense	11244			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.1049A>G	8.37:g.124267138T>C	ENSP00000428821:p.Glu350Gly		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.66|17.66	3.445777|3.445777	0.63178|0.63178	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|.	0.31247|.	1.5;1.5;1.5|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Homeodomain-related (1);Homeodomain-like (1);|.	0.154395|.	0.56097|.	D|.	0.000027|.	T|T	0.73048|0.73048	0.3537|0.3537	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999989|0.999989	P|.	0.50710|.	0.938|.	P|.	0.49140|.	0.601|.	T|T	0.72243|0.72243	-0.4350|-0.4350	9|4	0.87932|.	D|.	0|.	-14.3997|-14.3997	16.1404|16.1404	0.81517|0.81517	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	350|.	Q9UKY1|.	ZHX1_HUMAN|.	G|G	350|35	ENSP00000297857:E350G;ENSP00000378938:E350G;ENSP00000428821:E350G|.	ENSP00000297857:E350G|.	E|R	-|-	2|1	0|2	ZHX1|ZHX1	124336319|124336319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	6.286000|6.286000	0.72665|0.72665	2.210000|2.210000	0.71456|0.71456	0.454000|0.454000	0.30748|0.30748	GAG|AGG		0.413	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			C	124267138	T	C	124267138	3	2	50	1	0	0	0	0	1	0	0	0	17672	1551	54	2	1576	2	ZHX1	8	124267138	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10		124267138	22096884	32	5019											
CBWD6	644019	broad.mit.edu	37	chr9	69256826	69256827	+	Frame_Shift_Ins	INS	-	-	C																															gaggcaaccgtttctaagttINSccagccactcttcatagagc																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr9:69256826_69256827insC	ENST00000377457.5	-	3	409_410	c.304_305insG	c.(304-306)gaafs	p.E102fs	CBWD6_ENST00000382399.4_Frame_Shift_Ins_p.E102fs|CBWD6_ENST00000377449.1_Frame_Shift_Ins_p.E66fs|CBWD6_ENST00000377441.1_Frame_Shift_Ins_p.E102fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	102							ATP binding (GO:0005524)			lung(4)	4						GTTTCTAAGTTCCAGCCACTCT	0.376																																						.											0																																										SO:0001589	frameshift_variant	644019				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.305dupG	9.37:g.69256828_69256828dupC	ENSP00000366677:p.Glu102fs			Frame_Shift_Ins	INS	ENST00000377457.5	37	CCDS43827.1																																																																																				0.376	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		C	69256827	-	C	69256826	7	5	50	1	0	1	1	0	0	0	0	0	2716	1783	62	0	934	0	CBWD6	9	69256826	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10		69256826	71956605	33	5020											
WNK2	65268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	95991992	95991992	+	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	ctgtaggaccggaagctcacCaagctggagcggcagcggtt	9	6	15	11	3	1	0	1	0	0	0	1	3	1	3	2	5	4	5	2	5	3	2			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr9:95991992C>G	ENST00000297954.4	+	2	696	c.696C>G	c.(694-696)acC>acG	p.T232T	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Silent_p.T232T|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.T218T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	232	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						GGAAGCTCACCAAGCTGGAGC	0.602																																						.											0													41	32	35					9																	95991992		2203	4299	6502	SO:0001819	synonymous_variant	65268			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.696C>G	9.37:g.95991992C>G			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.	.	.	.	.	.	.	.	.	.	C	8.729	0.916153	0.17907	.	.	ENSG00000165238	ENST00000432730	.	.	.	5.53	3.54	0.40534	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49670	-0.8915	4	.	.	.	.	5.3031	0.15790	0.1937:0.6167:0.1065:0.0831	.	.	.	.	R	228	.	.	P	+	2	0	WNK2	95031813	0.199000	0.23386	1.000000	0.80357	0.973000	0.67179	-0.382000	0.07408	1.354000	0.45846	-0.126000	0.14955	CCA		0.602	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		G	95991992	C	G	95991992	2	3	50	1	0	0	0	0	0	0	0	1	17375	581	21	5		5	WNK2	9	95991992	Silent	SNP	C	TCGA-KN-8435-01A-11D-2310-10	26735166	95991992	45221439	34	5021											
STAM	8027	broad.mit.edu	37	chr10	17756602	17756603	+	In_Frame_Ins	INS	-	-	CCC																															aggcgccagtatatagtcctINScctcctgccgctactgctgc																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr10:17756602_17756603insCCC	ENST00000377524.3	+	14	1661_1662	c.1446_1447insCCC	c.(1447-1449)cct>CCCcct	p.483_483P>PP	STAM_ENST00000540523.1_In_Frame_Ins_p.372_372P>PP	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	483					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						TATATAGTCCTCCTCCTGCCGC	0.47																																						.											0																																										SO:0001652	inframe_insertion	8027			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	Exception_encountered	10.37:g.17756602_17756603insCCC	ENSP00000366746:p.Pro484dup		B0YJ99|D3DRU5|Q8N6D9	In_Frame_Ins	INS	ENST00000377524.3	37	CCDS7122.1																																																																																				0.47	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		CCC	17756603	-	CCC	17756602	7	5	50	1	0	1	1	0	0	0	0	0	15247	1538	54	0	1500	0	STAM	10	17756602	In_Frame_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10		17756602	117778145	35	5022											
ANUBL1	93550	broad.mit.edu	37	chr10	46122460	46122460	+	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	ttgaccaatgttggggaggaCccttaacaatcggtggcgag	10	9	14	8	2	0	1	0	1	0	0	1	4	0	3	2	5	1	1	2	5	3	3			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr10:46122460C>A	ENST00000344646.5	-	7	1026	c.811G>T	c.(811-813)Gtc>Ttc	p.V271F	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.V197F	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	271							zinc ion binding (GO:0008270)										TTGGGGAGGACCCTTAACAAT	0.478																																						.											0													90	83	85					10																	46122460		2203	4300	6503	SO:0001583	missense	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.811G>T	10.37:g.46122460C>A	ENSP00000339484:p.Val271Phe		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293016	0.80914	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.26373	1.74;1.75	5.47	5.47	0.80525	.	2.576260	0.02078	N	0.052100	T	0.50394	0.1613	L	0.61218	1.895	0.52099	D	0.999947	D	0.63880	0.993	P	0.55871	0.786	T	0.12528	-1.0544	10	0.44086	T	0.13	-35.2232	16.8259	0.85931	0.0:1.0:0.0:0.0	.	271	Q86XD8	ANUB1_HUMAN	F	271;197;153	ENSP00000339484:V271F;ENSP00000363486:V197F	ENSP00000339484:V271F	V	-	1	0	ANUBL1	45442466	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	3.284000	0.51708	2.574000	0.86865	0.650000	0.86243	GTC		0.478	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		A	46122460	C	A	46122460	3	1	50	1	0	0	0	0	1	0	0	0	713	507	18	5	1388	5	ANUBL1	10	46122460	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	28365858	46122460	89412287	36	5023											
CHAT	1103	ucsc.edu	37	chr10	50827861	50827861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtctgaggagcagttcAggaagagccaggccattgtg	9	9	16	7	0	2	2	1	1	1	1	2	4	2	4	2	4	2	2	2	4	1	2			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr10:50827861A>G	ENST00000337653.2	+	3	631	c.478A>G	c.(478-480)Agg>Ggg	p.R160G	CHAT_ENST00000395559.2_Missense_Mutation_p.R42G|CHAT_ENST00000339797.1_Missense_Mutation_p.R42G|CHAT_ENST00000455728.2_Missense_Mutation_p.R42G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000351556.3_Missense_Mutation_p.R42G|CHAT_ENST00000395562.2_Missense_Mutation_p.R78G	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	160					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGAGCAGTTCAGGAAGAGCCA	0.632																																						.											0													44	40	41					10																	50827861		2203	4300	6503	SO:0001583	missense	1103			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.478A>G	10.37:g.50827861A>G	ENSP00000337103:p.Arg160Gly		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	8.218	0.801776	0.16397	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.09	-4.98	0.03019	.	0.478897	0.22326	N	0.061530	D	0.82554	0.5062	L	0.39898	1.24	0.25002	N	0.991467	B;B	0.32409	0.016;0.37	B;B	0.29785	0.036;0.107	T	0.65907	-0.6054	10	0.42905	T	0.14	-7.1764	19.9976	0.97389	0.2201:0.7798:0.0:0.0	.	42;160	F8W8I2;P28329	.;CLAT_HUMAN	G	42;42;42;160;78;42	ENSP00000343486:R42G;ENSP00000345878:R42G;ENSP00000378926:R42G;ENSP00000337103:R160G;ENSP00000378929:R78G;ENSP00000390521:R42G	ENSP00000337103:R160G	R	+	1	2	CHAT	50497867	0.001000	0.12720	0.308000	0.25141	0.027000	0.11550	0.124000	0.15728	-0.730000	0.04869	-0.648000	0.03929	AGG		0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		G	50827861	A	G	50827861	3	3	50	1	0	0	0	0	1	0	0	0	3313	179	7	2	532	2	CHAT	10	50827861	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	4705401	50827861	84706886	37	5024											
JAKMIP3	282973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	133955457	133955457	+	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	aggagacggagctgaggttcCggcagctgaccatggagtac	10	6	16	9	2	0	3	0	2	0	1	1	6	1	5	2	5	3	5	2	5	1	2	rs374251347		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr10:133955457C>T	ENST00000298622.4	+	10	1645	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	503						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)		GCTGAGGTTCCGGCAGCTGAC	0.607																																						.											0								C	TRP/ARG	0,4398		0,0,2199	97	64	75		1507	1.9	1	10		75	1,8587		0,1,4293	no	missense	JAKMIP3	NM_001105521.2	101	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	503/845	133955457	1,12985	2199	4294	6493	SO:0001583	missense	282973			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.1507C>T	10.37:g.133955457C>T	ENSP00000298622:p.Arg503Trp		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407340	0.83230	0.0	1.16E-4	ENSG00000188385	ENST00000298622	T	0.26810	1.71	3.87	1.94	0.25998	.	0.244823	0.33092	N	0.005282	T	0.42720	0.1215	M	0.64404	1.975	0.51012	D	0.999909	D	0.89917	1.0	D	0.91635	0.999	T	0.21793	-1.0235	10	0.72032	D	0.01	-22.0753	8.153	0.31152	0.1571:0.7586:0.0:0.0844	.	503	Q5VZ66	JKIP3_HUMAN	W	503	ENSP00000298622:R503W	ENSP00000298622:R503W	R	+	1	2	JAKMIP3	133805447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.309000	0.59135	0.405000	0.25532	0.561000	0.74099	CGG		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133955457	C	T	133955457	3	4	50	1	0	0	0	0	1	0	0	0	7942	643	23	1	1545	1	JAKMIP3	10	133955457	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	83127596	133955457	1579290	38	5025											
MUC6	4588	mdanderson.org	37	chr11	1018314	1018314	+	Missense_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	ttattggtggggctgtgtggGtggaccctgtggccttgagc	3	13	18	7	0	0	1	0	1	0	0	0	2	0	2	2	6	1	1	2	6	1	3	rs200089063		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:1018314G>A	ENST00000421673.2	-	31	4537	c.4487C>T	c.(4486-4488)aCc>aTc	p.T1496I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1496	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)		GGCTGTGTGGGTGGACCCTGT	0.572																																						.											0													279	289	286					11																	1018314		2189	4269	6458	SO:0001583	missense	4588			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.4487C>T	11.37:g.1018314G>A	ENSP00000406861:p.Thr1496Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.706	0.694199	0.15039	.	.	ENSG00000184956	ENST00000421673	T	0.20738	2.05	2.45	2.45	0.29901	.	.	.	.	.	T	0.26159	0.0638	L	0.59436	1.845	0.09310	N	1	D	0.54964	0.969	P	0.47162	0.54	T	0.08617	-1.0713	9	0.37606	T	0.19	.	11.017	0.47696	0.0:0.0:1.0:0.0	.	1496	Q6W4X9	MUC6_HUMAN	I	1496	ENSP00000406861:T1496I	ENSP00000406861:T1496I	T	-	2	0	MUC6	1008314	0.042000	0.20092	0.002000	0.10522	0.024000	0.10985	0.803000	0.27083	1.326000	0.45319	0.313000	0.20887	ACC		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018314	G	A	1018314	3	1	50	1	0	0	0	0	1	0	0	0	9980	1261	44	3	2844	3	MUC6	11	1018314	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		1018314	133988202	39	5026											
KRTAP5-2	440021	mdanderson.org	37	chr11	1619368	1619368	+	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	agcccccacagccagagccaCagcccccacggccggagcca	10	0	10	21	2	0	1	0	0	0	1	0	2	0	2	8	2	5	0	8	2	0	0			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:1619368C>T	ENST00000412090.1	-	1	156	c.113G>A	c.(112-114)tGt>tAt	p.C38Y	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	38						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)		GCCAGAGCCACAGCCCCCACG	0.687																																						.											0													31	39	36					11																	1619368		2173	4229	6402	SO:0001583	missense	440021			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.113G>A	11.37:g.1619368C>T	ENSP00000400041:p.Cys38Tyr		A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	-	11.10	1.540016	0.27563	.	.	ENSG00000205867	ENST00000412090	T	0.01178	5.22	.	.	.	.	.	.	.	.	T	0.01800	0.0057	L	0.46157	1.445	0.21915	N	0.999477	.	.	.	.	.	.	T	0.45585	-0.9251	5	0.87932	D	0	.	.	.	.	.	38	Q701N4	KRA52_HUMAN	Y	38	ENSP00000400041:C38Y	ENSP00000400041:C38Y	C	-	2	0	KRTAP5-2	1575944	0.976000	0.34144	0.670000	0.29842	0.641000	0.38312	3.989000	0.56958	0.000000	0.14550	0.000000	0.15137	TGT		0.687	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		T	1619368	C	T	1619368	3	4	50	1	0	0	0	0	1	0	0	0	8561	478	17	4	424	4	KRTAP5-2	11	1619368	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	601054	1619368	133387148	40	5027											
OR6A2	8590	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	6816462	6816462	+	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	aaaaactttgaccatggagaTgccaaaacctccagcccaag	16	6	7	12	0	0	2	0	1	0	1	1	3	1	2	5	1	4	0	5	1	5	1			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:6816462T>G	ENST00000332601.3	-	1	666	c.478A>C	c.(478-480)Atc>Ctc	p.I160L		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	160					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)		ACCATGGAGATGCCAAAACCT	0.502																																						.											0													91	89	89					11																	6816462		2201	4296	6497	SO:0001583	missense	8590			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.478A>C	11.37:g.6816462T>G	ENSP00000330384:p.Ile160Leu		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.538105	0.65085	.	.	ENSG00000184933	ENST00000332601	T	0.35236	1.32	5.07	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.220980	0.31246	N	0.007994	T	0.28167	0.0695	N	0.21324	0.655	0.27374	N	0.955607	P	0.45569	0.861	P	0.51918	0.684	T	0.11616	-1.0580	10	0.10902	T	0.67	.	6.5696	0.22531	0.0:0.2741:0.0:0.7259	.	160	O95222	OR6A2_HUMAN	L	160	ENSP00000330384:I160L	ENSP00000330384:I160L	I	-	1	0	OR6A2	6773038	0.000000	0.05858	0.973000	0.42090	0.965000	0.64279	-0.619000	0.05572	0.503000	0.28060	0.533000	0.62120	ATC		0.502	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		G	6816462	T	G	6816462	3	3	50	1	0	0	0	0	1	0	0	0	11186	1464	51	5	509	5	OR6A2	11	6816462	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	5197094	6816462	128190054	41	5028											
OR1S1	219959	broad.mit.edu;mdanderson.org	37	chr11	57982414	57982414	+	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	gtggctatcagcttggatacGtaccttcatacccccatgta	9	12	8	12	1	2	0	2	0	0	0	2	1	2	1	3	2	4	4	3	2	5	7	rs386753888|rs111386724	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:57982414G>A	ENST00000309433.6	+	1	198	c.198G>A	c.(196-198)acG>acA	p.T66T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T66T(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GCTTGGATACGTACCTTCATA	0.443													G|||	4	0.000798722	8e-04	0	5008	,	,		20373	0		0.003	False		,,,				2504	0					.											1	Substitution - coding silent(1)	endometrium(1)						G		2,4400	4.2+/-10.8	0,2,2199	327	300	309		198	-6.9	0	11	dbSNP_132	309	22,8570	16.0+/-53.3	0,22,4274	no	coding-synonymous	OR1S1	NM_001004458.1		0,24,6473	AA,AG,GG		0.2561,0.0454,0.1847		66/326	57982414	24,12970	2201	4296	6497	SO:0001819	synonymous_variant	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.198G>A	11.37:g.57982414G>A			Q6IFG3	Silent	SNP	ENST00000309433.6	37	CCDS31546.1																																																																																				0.443	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		A	57982414	G	A	57982414	2	1	50	1	0	0	0	0	0	0	0	1	10972	1132	40	1		1	OR1S1	11	57982414	Silent	SNP	G	TCGA-KN-8435-01A-11D-2310-10	51165952	57982414	77024102	42	5029											
KRTAP5-10	387273	mdanderson.org	37	chr11	71276876	71276876	+	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	ggctcttgtgggggctccaaAgggggctgtggttcctgtgg	3	11	19	8	0	1	0	0	0	1	0	3	0	3	0	2	7	0	4	2	7	1	2	rs12788123		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:71276876A>G	ENST00000398531.1	+	1	268	c.243A>G	c.(241-243)aaA>aaG	p.K81K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAAGGGGGCTGTG	0.682																																						.											1	Substitution - coding silent(1)	endometrium(1)											51	72	65					11																	71276876		2140	4257	6397	SO:0001819	synonymous_variant	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.243A>G	11.37:g.71276876A>G			B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																				0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			G	71276876	A	G	71276876	2	3	50	1	0	0	0	0	0	0	0	1	8559	69	3	2		2	KRTAP5-10	11	71276876	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	13294462	71276876	63729640	43	5030											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	108126988	108126988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgttcacgtcttttggtggGtgtccttggctgctactgtt	2	18	13	8	1	2	0	1	0	1	0	3	0	3	0	1	3	2	4	1	3	1	6			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:108126988G>T	ENST00000452508.2	+	15	2360	c.2171G>T	c.(2170-2172)gGt>gTt	p.G724V	ATM_ENST00000278616.4_Missense_Mutation_p.G724V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	724					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)	CTTTTGGTGGGTGTCCTTGGC	0.328			"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)																												.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													101	98	99					11																	108126988		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	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.2171G>T	11.37:g.108126988G>T	ENSP00000388058:p.Gly724Val		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908296	0.72868	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.77358	-1.09;-1.09;-1.09	5.45	4.54	0.55810	Armadillo-type fold (1);	0.053429	0.85682	D	0.000000	D	0.85643	0.5744	M	0.69823	2.125	0.58432	D	0.999999	D	0.69078	0.997	D	0.64687	0.928	D	0.86131	0.1575	10	0.46703	T	0.11	.	14.6376	0.68702	0.0705:0.0:0.9295:0.0	.	724	Q13315	ATM_HUMAN	V	724	ENSP00000435747:G724V;ENSP00000278616:G724V;ENSP00000388058:G724V	ENSP00000278616:G724V	G	+	2	0	ATM	107632198	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.760000	0.68793	1.432000	0.47375	0.557000	0.71058	GGT		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108126988	G	T	108126988	3	4	50	1	0	0	0	0	1	0	0	0	1109	1261	44	5	2221	5	ATM	11	108126988	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	36850112	108126988	26879528	44	5031											
SIK2	23235	broad.mit.edu	37	chr11	111594331	111594332	+	Frame_Shift_Ins	INS	-	-	C																															caagtcagcagctgccccttINSccccgccaggagactccacc																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:111594331_111594332insC	ENST00000304987.3	+	15	2432_2433	c.2259_2260insC	c.(2260-2262)cccfs	p.P754fs		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	754					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCTGCCCCTTCCCCGCCAGGA	0.589																																						.											0																																										SO:0001589	frameshift_variant	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2263dupC	11.37:g.111594335_111594335dupC	ENSP00000305976:p.Pro754fs		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Frame_Shift_Ins	INS	ENST00000304987.3	37	CCDS8347.1																																																																																				0.589	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		C	111594332	-	C	111594331	7	5	50	1	0	1	1	0	0	0	0	0	14318	1770	62	0	2317	0	SIK2	11	111594331	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	3467343	111594331	23412185	45	5032											
ALG9	79796	mdanderson.org	37	chr11	111657129	111657129	+	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	acaggtgtgttgctaacctcCacttttcttcctgatttgct	6	17	7	11	0	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	1	6	rs370840671		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr11:111657129C>T	ENST00000531154.1	-	15	1808	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	ALG9_ENST00000398006.2_Missense_Mutation_p.G439R|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	610					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)		TGCTAACCTCCACTTTTCTTC	0.468																																						.											0								C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,3976		0,0,1988	277	272	274		1829,1336,1315,1850	3.9	1	11		274	1,8321		0,1,4160	no	missense,missense,missense,missense	ALG9	NM_001077690.1,NM_001077691.1,NM_001077692.1,NM_024740.2	125,125,125,125	0,1,6148	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	610/612,446/448,439/441,617/619	111657129	1,12297	1988	4161	6149	SO:0001583	missense	79796				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.1336G>A	11.37:g.111657129C>T	ENSP00000435517:p.Gly446Arg		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005992	0.74932	0.0	1.2E-4	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.14022	2.54;2.54	5.87	3.9	0.45041	.	0.229782	0.45867	N	0.000334	T	0.11367	0.0277	N	0.22421	0.69	0.39048	D	0.960263	P;B	0.48016	0.904;0.005	P;B	0.45829	0.494;0.008	T	0.06110	-1.0845	10	0.72032	D	0.01	-6.6827	8.4076	0.32625	0.1537:0.767:0.0:0.0793	.	617;610	Q9H6U8-3;Q9H6U8	.;ALG9_HUMAN	R	446;439;843	ENSP00000435517:G446R;ENSP00000381090:G439R	ENSP00000381090:G439R	G	-	1	0	ALG9	111162339	0.938000	0.31826	0.987000	0.45799	0.996000	0.88848	2.670000	0.46833	1.633000	0.50488	0.655000	0.94253	GGA		0.468	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		T	111657129	C	T	111657129	3	4	50	1	0	0	0	0	1	0	0	0	524	603	21	4	11	4	ALG9	11	111657129	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	62798	111657129	23349387	46	5033											
KCNA6	3742	mdanderson.org	37	chr12	4920387	4920387	+	Missense_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	tcatcctcttctccagtgccGtctacttcgcagaggctgac	6	12	8	15	2	4	2	1	1	3	1	7	2	5	2	3	1	2	2	3	1	1	3			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:4920387G>A	ENST00000280684.3	+	1	2046	c.1180G>A	c.(1180-1182)Gtc>Atc	p.V394I	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.V394I			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	394					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTCCAGTGCCGTCTACTTCGC	0.582										HNSCC(72;0.22)																												.											0													118	100	106					12																	4920387		2203	4300	6503	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1180G>A	12.37:g.4920387G>A	ENSP00000280684:p.Val394Ile			Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836332	0.71373	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97303	-4.33;-4.33	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	N	0.20304	0.555	0.58432	D	0.999999	P	0.50443	0.935	P	0.46362	0.514	D	0.94785	0.7957	10	0.48119	T	0.1	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	394	P17658	KCNA6_HUMAN	I	394	ENSP00000408321:V394I;ENSP00000280684:V394I	ENSP00000280684:V394I	V	+	1	0	KCNA6	4790648	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.495000	0.97964	2.688000	0.91661	0.655000	0.94253	GTC		0.582	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		A	4920387	G	A	4920387	3	1	50	1	0	0	0	0	1	0	0	0	8007	1145	40	1	1182	1	KCNA6	12	4920387	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10		4920387	128931508	47	5034											
PRB2	653247	mdanderson.org	37	chr12	11546634	11546634	+	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	ggaggaccttgaggctggttGcctccttgtgggggtggtcc	3	11	18	9	0	0	1	0	1	0	0	2	3	2	3	4	7	1	2	4	7	0	3			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:11546634G>A	ENST00000389362.4	-	3	413	c.378C>T	c.(376-378)ggC>ggT	p.G126G	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	126	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)			GAGGCTGGTTGCCTCCTTGTG	0.607																																						.											0													301	284	290					12																	11546634		2203	4300	6503	SO:0001819	synonymous_variant	653247			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.378C>T	12.37:g.11546634G>A			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		A	11546634	G	A	11546634	2	1	50	1	0	0	0	0	0	0	0	1	12443	1306	46	4		4	PRB2	12	11546634	Silent	SNP	G	TCGA-KN-8435-01A-11D-2310-10	6626247	11546634	122305261	48	5035											
LRRK2	120892	hgsc.bcm.edu	37	chr12	40707951	40707951	+	Missense_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	atgaaaatgagcttcctcacGcagttcactttctaaatgaa	14	12	6	9	1	3	3	2	3	1	0	4	3	4	3	1	0	1	3	1	0	5	4			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:40707951G>A	ENST00000298910.7	+	32	4772	c.4714G>A	c.(4714-4716)Gca>Aca	p.A1572T	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1572					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.A1572T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTTCCTCACGCAGTTCACTT	0.338																																						.											2	Substitution - Missense(2)	ovary(2)											67	57	60					12																	40707951		2203	4299	6502	SO:0001583	missense	120892			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.4714G>A	12.37:g.40707951G>A	ENSP00000298910:p.Ala1572Thr		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146199	0.94603	.	.	ENSG00000188906	ENST00000298910	T	0.79247	-1.25	5.83	5.83	0.93111	.	0.055971	0.64402	D	0.000001	D	0.88614	0.6484	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.945;0.961	D	0.88885	0.3342	10	0.72032	D	0.01	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1572;1572	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1572	ENSP00000298910:A1572T	ENSP00000298910:A1572T	A	+	1	0	LRRK2	38994218	1.000000	0.71417	0.995000	0.50966	0.818000	0.46254	8.984000	0.93482	2.753000	0.94483	0.585000	0.79938	GCA		0.338	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40707951	G	A	40707951	3	1	50	1	0	0	0	0	1	0	0	0	9033	1087	38	1	4840	1	LRRK2	12	40707951	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	29161317	40707951	93143944	49	5036											
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	48379322	48379322	+	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	agaggatagacttacagaagGgccaactttgccttgaggac	13	8	12	8	0	0	4	0	1	0	3	0	6	0	6	2	3	3	0	2	3	4	4			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:48379322G>A	ENST00000380518.3	-	26	1893	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P508S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	577	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTACAGAAGGGCCAACTTTG	0.597																																						.											0													116	124	121					12																	48379322		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1729C>T	12.37:g.48379322G>A	ENSP00000369889:p.Pro577Ser		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280839	0.80692	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.96587	-4.06;-4.06	5.05	5.05	0.67936	.	0.065251	0.64402	D	0.000009	D	0.97558	0.9200	L	0.61387	1.9	0.54753	D	0.999984	D;D	0.59357	0.985;0.975	D;P	0.74674	0.984;0.894	D	0.97810	1.0250	10	0.56958	D	0.05	.	17.3421	0.87299	0.0:0.0:1.0:0.0	.	508;577	P02458-1;P02458	.;CO2A1_HUMAN	S	577;508;508	ENSP00000369889:P577S;ENSP00000338213:P508S	ENSP00000338213:P508S	P	-	1	0	COL2A1	46665589	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.508000	0.53378	2.629000	0.89072	0.609000	0.83330	CCT		0.597	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		A	48379322	G	A	48379322	3	1	50	1	0	0	0	0	1	0	0	0	3687	1232	43	3	2850	3	COL2A1	12	48379322	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	7671371	48379322	85472573	50	5037											
ZCCHC8	55596	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	122958438	122958438	+	Missense_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	gtacctcaggctcatccagcGtctgcttttcagatgttttt	6	16	8	11	1	4	1	3	0	1	1	5	1	5	1	2	1	3	4	2	1	1	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr12:122958438G>A	ENST00000336229.4	-	14	1860	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.T339M|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.T339M|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.T188M	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	577					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTCATCCAGCGTCTGCTTTTC	0.488																																						.											0													213	208	210					12																	122958438		1953	4156	6109	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1730C>T	12.37:g.122958438G>A	ENSP00000337313:p.Thr577Met		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	G	9.946	1.218896	0.22373	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.44482	0.93;0.93;0.93;0.92	5.72	-7.32	0.01436	.	2.565100	0.00904	N	0.002393	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.08166	-1.0735	10	0.36615	T	0.2	2.2068	2.1954	0.03909	0.2269:0.1934:0.373:0.2067	.	577	Q6NZY4	ZCHC8_HUMAN	M	339;339;577;188	ENSP00000441423:T339M;ENSP00000438993:T339M;ENSP00000337313:T577M;ENSP00000440028:T188M	ENSP00000337313:T577M	T	-	2	0	ZCCHC8	121524391	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.623000	0.05546	-1.273000	0.02424	-0.334000	0.08254	ACG		0.488	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		A	122958438	G	A	122958438	3	1	50	1	0	0	0	0	1	0	0	0	17591	1145	40	1	397	1	ZCCHC8	12	122958438	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	74579116	122958438	10893457	51	5038											
C14orf135	64430	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	60585201	60585201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctccattcgtgttggTcatcatagttttttctacac	6	20	5	10	1	4	0	2	0	2	0	6	0	4	0	1	1	1	2	1	1	2	9			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr14:60585201T>C	ENST00000406854.1	+	7	2287	c.1733T>C	c.(1732-1734)gTc>gCc	p.V578A	PCNXL4_ENST00000406949.1_Missense_Mutation_p.V344A|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V578A|PCNXL4_ENST00000317623.4_Missense_Mutation_p.V344A			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	578						integral component of membrane (GO:0016021)											TTCGTGTTGGTCATCATAGTT	0.428																																						.											0													128	126	126					14																	60585201		2203	4300	6503	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1733T>C	14.37:g.60585201T>C	ENSP00000384801:p.Val578Ala		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	T	4.317	0.058181	0.08339	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.20881	2.04;2.06;2.08;2.06	6.0	3.61	0.41365	.	.	.	.	.	T	0.10895	0.0266	N	0.13098	0.295	0.20074	N	0.999932	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.38023	-0.9680	9	0.18276	T	0.48	.	6.4521	0.21910	0.0:0.1295:0.2441:0.6264	.	578;344	Q63HM2;B5MC47	CN135_HUMAN;.	A	344;578;344;578	ENSP00000317396:V344A;ENSP00000384801:V578A;ENSP00000385201:V344A;ENSP00000385713:V578A	ENSP00000317396:V344A	V	+	2	0	C14orf135	59654954	0.089000	0.21612	0.043000	0.18650	0.294000	0.27393	0.458000	0.21892	0.493000	0.27837	-0.263000	0.10527	GTC		0.428	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		C	60585201	T	C	60585201	3	2	50	1	0	0	0	0	1	0	0	0	1745	1667	58	2	1049	2	C14orf135	14	60585201	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10		60585201	46764339	52	5039											
RTL1	388015	broad.mit.edu	37	chr14	101347140	101347141	+	Frame_Shift_Ins	INS	-	-	C																															ccaggcggggatgggcagggINScccgcctgtagatcagggtc																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr14:101347140_101347141insC	ENST00000534062.1	-	1	4043_4044	c.3985_3986insG	c.(3985-3987)gccfs	p.A1329fs	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1329					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATGGGCAGGGCCCGCCTGTAG	0.649																																						.											0																																										SO:0001589	frameshift_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3986dupG	14.37:g.101347143_101347143dupC	ENSP00000435342:p.Ala1329fs		E9PKS8	Frame_Shift_Ins	INS	ENST00000534062.1	37	CCDS53910.1																																																																																				0.649	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		C	101347141	-	C	101347140	7	5	50	1	0	1	1	0	0	0	0	0	13724	1203	42	0	94	0	RTL1	14	101347140	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	40761939	101347140	6002400	53	5040											
EIF5	1983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	103802243	103802243	+	Missense_Mutation	SNP	T	T	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	tgtcagaccagttctatcgcTacaagatgccccgtctgatt	9	12	8	12	2	3	3	1	1	2	2	4	3	3	3	3	0	2	2	3	0	3	4			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr14:103802243T>C	ENST00000216554.3	+	3	722	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.Y16H|EIF5_ENST00000558506.1_Missense_Mutation_p.Y16H|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GTTCTATCGCTACAAGATGCC	0.388																																						.											0													152	142	146					14																	103802243		2203	4300	6503	SO:0001583	missense	1983			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.46T>C	14.37:g.103802243T>C	ENSP00000216554:p.Tyr16His		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	27.2	4.806994	0.90623	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.47528	0.84;0.84	5.79	5.79	0.91817	Translation initiation factor IF2/IF5, N-terminal (1);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	H	0.95917	3.74	0.80722	D	1	B	0.29136	0.234	P	0.51297	0.665	T	0.81433	-0.0935	10	0.87932	D	0	.	16.1805	0.81895	0.0:0.0:0.0:1.0	.	16	P55010	IF5_HUMAN	H	16	ENSP00000216554:Y16H;ENSP00000376477:Y16H	ENSP00000216554:Y16H	Y	+	1	0	EIF5	102871996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.831000	0.86748	2.221000	0.72209	0.529000	0.55759	TAC		0.388	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		C	103802243	T	C	103802243	3	2	50	1	0	0	0	0	1	0	0	0	5040	1522	53	2	48	2	EIF5	14	103802243	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	2455103	103802243	3547297	54	5041											
SLC28A2	9153	broad.mit.edu	37	chr15	45556950	45556951	+	Frame_Shift_Ins	INS	-	-	G																															tatactgtatttcagtggctINSgggagagcaggtccaggtat																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr15:45556950_45556951insG	ENST00000347644.3	+	7	751_752	c.686_687insG	c.(685-690)ctgggafs	p.LG229fs	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	229					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TTTCAGTGGCTGGGAGAGCAGG	0.446																																					NSCLC(92;493 1501 26361 28917 47116)	.											0																																										SO:0001589	frameshift_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.689dupG	15.37:g.45556953_45556953dupG	ENSP00000315006:p.Leu229fs		A8K7F9|O43239|Q52LZ0	Frame_Shift_Ins	INS	ENST00000347644.3	37	CCDS10121.1																																																																																				0.446	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		G	45556951	-	G	45556950	7	5	50	1	0	1	1	0	0	0	0	0	14532	1580	55	0	708	0	SLC28A2	15	45556950	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10		45556950	56974442	55	5042											
ISLR	3671	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr15	74467546	74467546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgactttgcctggaGcgacctgcacaacctcagtg	8	10	9	14	1	2	1	1	1	1	0	3	3	2	2	3	1	4	1	3	1	1	1			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr15:74467546G>T	ENST00000249842.3	+	2	704	c.347G>T	c.(346-348)aGc>aTc	p.S116I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.S116I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	116					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TTTGCCTGGAGCGACCTGCAC	0.617																																						.											0													82	79	80					15																	74467546		2198	4297	6495	SO:0001583	missense	3671			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.347G>T	15.37:g.74467546G>T	ENSP00000249842:p.Ser116Ile			Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504498	0.44558	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.55588	0.51;0.51	4.05	1.59	0.23543	.	0.623254	0.13676	U	0.370522	T	0.51329	0.1668	M	0.72118	2.19	0.26664	N	0.971856	P	0.39601	0.68	B	0.41412	0.356	T	0.43376	-0.9395	10	0.42905	T	0.14	.	8.0656	0.30659	0.1519:0.1641:0.684:0.0	.	116	O14498	ISLR_HUMAN	I	116	ENSP00000249842:S116I;ENSP00000378550:S116I	ENSP00000249842:S116I	S	+	2	0	ISLR	72254599	0.991000	0.36638	1.000000	0.80357	0.984000	0.73092	1.728000	0.38105	0.659000	0.30945	0.313000	0.20887	AGC		0.617	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		T	74467546	G	T	74467546	3	4	50	1	0	0	0	0	1	0	0	0	7858	971	34	5	349	5	ISLR	15	74467546	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	28910596	74467546	28063846	56	5043											
VASN	114990	broad.mit.edu	37	chr16	4431910	4431910	+	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	ctgctcctggagcttgactaCgccgactttggctgcccagc	5	10	11	15	2	0	1	0	1	0	0	1	3	1	2	3	2	5	3	3	2	1	3	rs200909451	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr16:4431910C>T	ENST00000304735.3	+	2	1187	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	344	LRRCT.				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						AGCTTGACTACGCCGACTTTG	0.672													C|||	3	0.000599042	0	0	5008	,	,		13672	0.002		0.001	False		,,,				2504	0					.											0													19	21	20					16																	4431910		2186	4290	6476	SO:0001819	synonymous_variant	114990			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.1032C>T	16.37:g.4431910C>T			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																				0.672	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		T	4431910	C	T	4431910	2	4	50	1	0	0	0	0	0	0	0	1	17124	547	19	1		1	VASN	16	4431910	Silent	SNP	C	TCGA-KN-8435-01A-11D-2310-10		4431910	85922843	57	5044											
CCDC144NL	339184	mdanderson.org	37	chr17	20768816	20768816	+	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	ccctttgctcatgcagatgaCaatactcttgaaaatggtgg	11	12	9	9	0	2	3	1	2	1	1	2	3	2	3	1	2	3	2	1	2	4	3	rs73298040	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:20768816C>T	ENST00000327925.5	-	4	697	c.578G>A	c.(577-579)tGt>tAt	p.C193Y	RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	193										large_intestine(3)|lung(3)|skin(1)	7						ATGCAGATGACAATACTCTTG	0.363																																						.											0													75	69	71					17																	20768816		2203	4300	6503	SO:0001583	missense	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.578G>A	17.37:g.20768816C>T	ENSP00000328054:p.Cys193Tyr			Missense_Mutation	SNP	ENST00000327925.5	37	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	c	0.024	-1.390208	0.01185	.	.	ENSG00000205212	ENST00000327925	T	0.18502	2.21	.	.	.	.	.	.	.	.	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	P	0.48738	0.588	T	0.23476	-1.0187	7	0.87932	D	0	.	.	.	.	.	193	Q6NUI1	C144L_HUMAN	Y	193	ENSP00000328054:C193Y	ENSP00000328054:C193Y	C	-	2	0	CCDC144NL	20709408	0.181000	0.23161	0.041000	0.18516	0.041000	0.13682	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	TGT		0.363	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		T	20768816	C	T	20768816	3	4	50	1	0	0	0	0	1	0	0	0	2779	478	17	4	91	4	CCDC144NL	17	20768816	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10		20768816	60426394	58	5045											
TMIGD1	388364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	28656457	28656457	+	Missense_Mutation	SNP	T	T	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	gttcttcctctctggtgtggTtttgaacagcacatatcaga	8	15	9	9	0	3	2	1	1	2	1	5	2	4	2	1	2	2	3	1	2	2	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:28656457T>C	ENST00000328886.4	-	3	245	c.173A>G	c.(172-174)aAc>aGc	p.N58S	TMIGD1_ENST00000538566.2_Missense_Mutation_p.N58S	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	58	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TCTGGTGTGGTTTTGAACAGC	0.448																																						.											0													108	98	102					17																	28656457		2203	4300	6503	SO:0001583	missense	388364			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.173A>G	17.37:g.28656457T>C	ENSP00000332404:p.Asn58Ser		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250385	0.80024	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.13657	2.57;2.57	5.44	5.44	0.79542	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.195565	0.53938	D	0.000050	T	0.37019	0.0988	M	0.71581	2.175	0.44241	D	0.997081	D;D	0.89917	1.0;0.989	D;P	0.85130	0.997;0.9	T	0.10613	-1.0622	10	0.56958	D	0.05	-21.8761	14.6668	0.68915	0.0:0.0:0.0:1.0	.	58;58	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	S	58	ENSP00000332404:N58S;ENSP00000446118:N58S	ENSP00000332404:N58S	N	-	2	0	TMIGD1	25680583	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.190000	0.65104	2.058000	0.61347	0.472000	0.43445	AAC		0.448	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		C	28656457	T	C	28656457	3	2	50	1	0	0	0	0	1	0	0	0	16227	1725	60	2	635	2	TMIGD1	17	28656457	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	7887641	28656457	52538753	59	5046											
C17orf98	388381	ucsc.edu	37	chr17	36997606	36997606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccaagataaagccttTctccagtcgcaggcgacact	10	8	8	15	3	1	1	0	0	1	1	4	2	2	1	4	1	1	1	4	1	3	2			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:36997606T>C	ENST00000398575.4	-	1	102	c.37A>G	c.(37-39)Aaa>Gaa	p.K13E		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	13										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						ATAAAGCCTTTCTCCAGTCGC	0.642																																						.											0													39	42	41					17																	36997606		2036	4204	6240	SO:0001583	missense	388381			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.37A>G	17.37:g.36997606T>C	ENSP00000381580:p.Lys13Glu			Missense_Mutation	SNP	ENST00000398575.4	37	CCDS42310.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614500	0.87359	.	.	ENSG00000214556	ENST00000398575	T	0.48836	0.8	5.38	5.38	0.77491	.	0.000000	0.40469	U	0.001088	T	0.58264	0.2110	L	0.43152	1.355	0.40513	D	0.980755	D	0.71674	0.998	D	0.63488	0.915	T	0.62343	-0.6874	10	0.72032	D	0.01	-21.4557	13.3941	0.60840	0.0:0.0:0.0:1.0	.	13	A8MV24	CQ098_HUMAN	E	13	ENSP00000381580:K13E	ENSP00000381580:K13E	K	-	1	0	C17orf98	34251132	0.998000	0.40836	0.969000	0.41365	0.909000	0.53808	4.928000	0.63447	2.263000	0.75096	0.379000	0.24179	AAA		0.642	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465		C	36997606	T	C	36997606	3	2	50	1	0	0	0	0	1	0	0	0	1893	1792	62	4	439	4	C17orf98	17	36997606	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	8341149	36997606	44197604	60	5047											
KRTAP4-9	100132386	mdanderson.org	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-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	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																																						.											0													5	8	7					17																	39262096		674	1562	2236	SO:0001819	synonymous_variant	100132386			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				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	50	1	0	0	0	0	0	0	0	1	8557	581	21	4		4	KRTAP4-9	17	39262096	Silent	SNP	C	TCGA-KN-8435-01A-11D-2310-10	2264490	39262096	41933114	61	5048											
BRCA1	672	broad.mit.edu;mdanderson.org	37	chr17	41244425	41244425	+	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	cctacttcattaatattgctTgagctggcttctttaaaaac	11	16	5	9	0	2	1	1	1	1	0	2	1	2	1	1	1	4	3	1	1	6	9			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:41244425T>C	ENST00000357654.3	-	10	3241	c.3123A>G	c.(3121-3123)tcA>tcG	p.S1041S	BRCA1_ENST00000346315.3_Silent_p.S1041S|BRCA1_ENST00000354071.3_Silent_p.S1041S|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Silent_p.S745S|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Silent_p.S1041S|BRCA1_ENST00000493795.1_Silent_p.S994S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1041					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAATATTGCTTGAGCTGGCTT	0.363			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													127	121	123					17																	41244425		2203	4300	6503	SO:0001819	synonymous_variant	672	Familial Cancer Database		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.3123A>G	17.37:g.41244425T>C			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	CCDS11453.1																																																																																				0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		C	41244425	T	C	41244425	2	2	50	1	0	0	0	0	0	0	0	1	1498	1799	63	4		4	BRCA1	17	41244425	Silent	SNP	T	TCGA-KN-8435-01A-11D-2310-10	1982329	41244425	39950785	62	5049											
CDC27	996	mdanderson.org	37	chr17	45214527	45214527	+	Missense_Mutation	SNP	T	T	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	ttaccacttaccatgcattaTaatgtctaggattgactctg	11	15	6	9	0	2	1	0	1	2	0	2	2	2	2	2	1	3	1	2	1	5	6	rs62075618|rs200720095	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr17:45214527T>C	ENST00000066544.3	-	14	1997	c.1904A>G	c.(1903-1905)tAt>tGt	p.Y635C	CDC27_ENST00000527547.1_Missense_Mutation_p.Y634C|CDC27_ENST00000531206.1_Missense_Mutation_p.Y641C|CDC27_ENST00000446365.2_Missense_Mutation_p.Y574C	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	635					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						CCATGCATTATAATGTCTAGG	0.338																																						.											0													35	35	35					17																	45214527		2203	4300	6503	SO:0001583	missense	996			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.1904A>G	17.37:g.45214527T>C	ENSP00000066544:p.Tyr635Cys		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004463	0.93287	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	H	0.96943	3.91	0.09310	P	0.999999999633698	D;D;D;D	0.59357	0.985;0.982;0.982;0.969	P;P;P;P	0.56042	0.79;0.753;0.753;0.727	D	0.88807	0.3289	9	0.87932	D	0	-24.5847	14.4087	0.67101	0.0:0.0:0.0:1.0	rs62075618	574;634;641;635	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	C	635;641;574;634	ENSP00000066544:Y635C;ENSP00000434614:Y641C;ENSP00000392802:Y574C;ENSP00000437339:Y634C	ENSP00000066544:Y635C	Y	-	2	0	CDC27	42569526	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.308000	0.72820	2.293000	0.77203	0.477000	0.44152	TAT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45214527	T	C	45214527	3	2	50	1	0	0	0	0	1	0	0	0	3066	1406	49	4	594	4	CDC27	17	45214527	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	3970102	45214527	35980683	63	5050											
MUC16	94025	mdanderson.org	37	chr19	9065113	9065113	+	Missense_Mutation	SNP	T	T	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	caaacttggaggtgaactggTttcaggttctgcacttgcgt	8	13	12	8	1	2	1	1	1	1	0	2	2	2	2	0	4	4	3	0	4	2	4			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:9065113T>C	ENST00000397910.4	-	3	22536	c.22333A>G	c.(22333-22335)Acc>Gcc	p.T7445A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7447	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						GGTGAACTGGTTTCAGGTTCT	0.493																																						.											0													161	148	152					19																	9065113		1980	4172	6152	SO:0001583	missense	94025			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.22333A>G	19.37:g.9065113T>C	ENSP00000381008:p.Thr7445Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	6.007	0.369713	0.11352	.	.	ENSG00000181143	ENST00000397910	T	0.27720	1.65	2.98	0.715	0.18186	.	.	.	.	.	T	0.21186	0.0510	L	0.36672	1.1	.	.	.	P	0.45474	0.859	B	0.41236	0.351	T	0.21965	-1.0230	8	0.87932	D	0	.	3.6452	0.08182	0.2221:0.0:0.2298:0.5481	.	7445	B5ME49	.	A	7445	ENSP00000381008:T7445A	ENSP00000381008:T7445A	T	-	1	0	MUC16	8926113	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.156000	0.10100	0.060000	0.16281	0.455000	0.32223	ACC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9065113	T	C	9065113	3	2	50	1	0	0	0	0	1	0	0	0	9973	1725	60	2	21518	2	MUC16	19	9065113	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10		9065113	50063870	64	5051											
OR7A5	26659	mdanderson.org	37	chr19	14938184	14938184	+	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	atgtctttattcctcagactAtagataaaggggttcagcat	12	14	8	7	0	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	2	5	7	rs200531878		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					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)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						.											2	Substitution - coding silent(2)	kidney(2)											74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G			B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		G	14938184	A	G	14938184	2	3	50	1	0	0	0	0	0	0	0	1	11216	456	16	4		4	OR7A5	19	14938184	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	5873071	14938184	44190799	65	5052											
OR7A5	26659	mdanderson.org	37	chr19	14938248	14938248	+	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	ctgaggctgttgcacttgagTgtgagttgcgggtggcagca	6	11	17	7	1	0	3	0	3	0	0	0	3	0	3	0	3	3	6	0	3	0	3	rs112284734	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:14938248T>A	ENST00000322301.3	-	2	893	c.806A>T	c.(805-807)cAc>cTc	p.H269L	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.H269L			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	269					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGCACTTGAGTGTGAGTTGCG	0.483																																						.											0													94	81	86					19																	14938248		2203	4300	6503	SO:0001583	missense	26659			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.806A>T	19.37:g.14938248T>A	ENSP00000316955:p.His269Leu		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	t	11.34	1.609869	0.28712	.	.	ENSG00000188269	ENST00000322301	T	0.00069	8.77	3.12	-0.173	0.13322	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.20445	0.575	0.09310	N	1	B	0.23990	0.095	B	0.33254	0.16	T	0.04976	-1.0914	9	0.48119	T	0.1	.	6.5609	0.22485	0.0:0.5426:0.0:0.4574	.	269	Q15622	OR7A5_HUMAN	L	269	ENSP00000316955:H269L	ENSP00000316955:H269L	H	-	2	0	OR7A5	14799248	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-0.053000	0.11846	0.050000	0.15949	0.102000	0.15555	CAC		0.483	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		A	14938248	T	A	14938248	3	1	50	1	0	0	0	0	1	0	0	0	11216	1696	59	5	157	5	OR7A5	19	14938248	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	64	14938248	44190735	66	5053											
CPAMD8	27151	broad.mit.edu;ucsc.edu	37	chr19	17036078	17036078	+	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	ggttttctgaagatacttcaAgacaaagacgttgggtgcaa	13	11	11	6	1	2	4	1	1	1	3	2	4	2	4	0	2	2	3	0	2	5	5			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:17036078A>G	ENST00000443236.1	-	26	3647	c.3616T>C	c.(3616-3618)Ttg>Ctg	p.L1206L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1159						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						AGATACTTCAAGACAAAGACG	0.542																																						.											0													95	99	97					19																	17036078		1998	4179	6177	SO:0001819	synonymous_variant	27151			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.3616T>C	19.37:g.17036078A>G			Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1																																																																																				0.542	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17036078	A	G	17036078	2	3	50	1	0	0	0	0	0	0	0	1	3795	69	3	2		2	CPAMD8	19	17036078	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	2097830	17036078	42092905	67	5054											
CILP2	148113	broad.mit.edu	37	chr19	19649208	19649208	+	Frame_Shift_Del	DEL	T	T	-																															ctgtgtcgtcgctgcgcaccTggcgggggcccgaggtgagg																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:19649208delT	ENST00000291495.5	+	1	135	c.50delT	c.(49-51)ctgfs	p.L17fs	CILP2_ENST00000586018.1_Frame_Shift_Del_p.L17fs	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	17						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						GCTGCGCACCTGGCGGGGGCC	0.761																																						.											0													8	11	10					19																	19649208		2122	4173	6295	SO:0001589	frameshift_variant	148113			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.50delT	19.37:g.19649208delT	ENSP00000291495:p.Leu17fs		Q6NV88|Q8N4A6|Q8WV21	Frame_Shift_Del	DEL	ENST00000291495.5	37	CCDS12405.1																																																																																				0.761	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		-	19649208	T	-	19649208	7	5	50	1	0	1	0	1	0	0	0	0	3430	1580	55	0	52	0	CILP2	19	19649208	Frame_Shift_Del	DEL	T	TCGA-KN-8435-01A-11D-2310-10	2613130	19649208	39479775	68	5055											
RELB	5971	broad.mit.edu;bcgsc.ca	37	chr19	45537516	45537516	+	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	taacagacagctacggcgtgGacaagaagcggaaacggggg	14	3	16	8	4	0	2	0	0	0	2	0	4	0	4	0	5	5	1	0	5	5	2			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:45537516G>C	ENST00000221452.8	+	10	1372	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	RELB_ENST00000505236.1_Missense_Mutation_p.D405H|RELB_ENST00000540120.1_Missense_Mutation_p.D408H	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	408	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTACGGCGTGGACAAGAAGCG	0.463																																						.											0													54	57	56					19																	45537516		1940	4138	6078	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1222G>C	19.37:g.45537516G>C	ENSP00000221452:p.Asp408His		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526283	0.44969	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.44881	0.91;0.91;0.91	5.0	5.0	0.66597	.	0.446106	0.22395	N	0.060623	T	0.24122	0.0584	N	0.14661	0.345	0.40606	D	0.981628	P	0.35272	0.493	B	0.26094	0.066	T	0.10660	-1.0620	10	0.34782	T	0.22	-0.0751	13.6656	0.62393	0.0:0.0:1.0:0.0	.	405	D6R992	.	H	408;408;405	ENSP00000221452:D408H;ENSP00000445542:D408H;ENSP00000423287:D405H	ENSP00000221452:D408H	D	+	1	0	RELB	50229356	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.846000	0.39289	2.603000	0.88011	0.563000	0.77884	GAC		0.463	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			C	45537516	G	C	45537516	3	2	50	1	0	0	0	0	1	0	0	0	13217	1174	41	5	1252	5	RELB	19	45537516	Missense_Mutation	SNP	G	TCGA-KN-8435-01A-11D-2310-10	25888308	45537516	13591467	69	5056											
ZNF787	126208	broad.mit.edu	37	chr19	56599998	56599998	+	Frame_Shift_Del	DEL	C	C	-																															ctgaagccgcggccgcagcgCgggcacacgaagggcttgag																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:56599998delC	ENST00000270459.3	-	3	661	c.543delG	c.(541-543)ccgfs	p.P181fs		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGCCGCAGCGCGGGCACACGA	0.731																																						.											0										17,3769		5,7,1881	4	5	5			3.7	1	19		5	22,7600		5,12,3794	no	frameshift	ZNF787	NM_001002836.2		10,19,5675	A1A1,A1R,RR		0.2886,0.449,0.3419			56599998	39,11369	1997	4032	6029	SO:0001589	frameshift_variant	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.543delG	19.37:g.56599998delC	ENSP00000270459:p.Pro181fs		O00455	Frame_Shift_Del	DEL	ENST00000270459.3	37	CCDS42634.1																																																																																				0.731	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		-	56599998	C	-	56599998	7	5	50	1	0	1	0	1	0	0	0	0	18156	755	27	0	612	0	ZNF787	19	56599998	Frame_Shift_Del	DEL	C	TCGA-KN-8435-01A-11D-2310-10	11062482	56599998	2528985	70	5057											
ZNF548	147694	broad.mit.edu	37	chr19	57911165	57911166	+	Frame_Shift_Ins	INS	-	-	TT																															aatccacagtgaagagaggcINSttgtgtgctccatgaatgtg																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:57911165_57911166insTT	ENST00000366197.5	+	3	1760_1761	c.1510_1511insTT	c.(1510-1512)cttfs	p.L504fs	AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Frame_Shift_Ins_p.L516fs|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	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)			breast(1)	1		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)		TGAAGAGAGGCTTGTGTGCTCC	0.416																																						.											0																																										SO:0001589	frameshift_variant	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1511_1512dupTT	19.37:g.57911166_57911167dupTT	ENSP00000379482:p.Leu504fs		Q96M05	Frame_Shift_Ins	INS	ENST00000366197.5	37	CCDS46209.1																																																																																				0.416	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		TT	57911166	-	TT	57911165	7	5	50	1	0	1	1	0	0	0	0	0	17977	797	28	0	1560	0	ZNF548	19	57911165	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	1311167	57911165	1217818	71	5058											
ZNF584	201514	mdanderson.org	37	chr19	58921398	58921398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggggctccttaatgtgAcccagaagggcctataccgg	9	8	14	10	1	0	2	0	1	0	1	1	2	1	2	4	4	1	1	4	4	4	3			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr19:58921398A>G	ENST00000306910.4	+	2	632	c.109A>G	c.(109-111)Acc>Gcc	p.T37A	ZNF584_ENST00000599238.1_5'UTR|ZNF584_ENST00000322834.7_Missense_Mutation_p.T29A|ZNF584_ENST00000593920.1_5'UTR|CTD-2619J13.14_ENST00000593393.1_lincRNA|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000596281.1_Intron	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CCTTAATGTGACCCAGAAGGG	0.537																																						.											0													178	155	163					19																	58921398		2203	4300	6503	SO:0001583	missense	201514			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.109A>G	19.37:g.58921398A>G	ENSP00000306756:p.Thr37Ala		A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	A	0.472	-0.883756	0.02530	.	.	ENSG00000171574	ENST00000306910;ENST00000322834	T;T	0.01313	5.02;5.02	3.92	-3.28	0.05033	Krueppel-associated box (4);	.	.	.	.	T	0.00524	0.0017	N	0.01761	-0.735	0.09310	N	1	B;B	0.19073	0.033;0.002	B;B	0.18263	0.021;0.007	T	0.46176	-0.9210	9	0.02654	T	1	.	3.6587	0.08230	0.3759:0.0:0.3426:0.2815	.	29;37	F6W0P0;Q8IVC4	.;ZN584_HUMAN	A	37;29	ENSP00000306756:T37A;ENSP00000320731:T29A	ENSP00000306756:T37A	T	+	1	0	ZNF584	63613210	0.000000	0.05858	0.065000	0.19835	0.996000	0.88848	-3.011000	0.00647	-0.263000	0.09378	0.454000	0.30748	ACC		0.537	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		G	58921398	A	G	58921398	3	3	50	1	0	0	0	0	1	0	0	0	18013	275	10	2	115	2	ZNF584	19	58921398	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10	1010233	58921398	207585	72	5059											
PCNA	5111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	5099481	5099481	+	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	ccttagtgtaatgatatcttCattgccggcgcattttagta	9	16	8	8	2	2	1	1	1	1	0	2	1	2	1	2	1	1	3	2	1	5	8			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr20:5099481C>G	ENST00000379160.3	-	3	495	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q	PCNA_ENST00000379143.5_Missense_Mutation_p.E85Q|SNORA26_ENST00000391215.1_RNA	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	85	Interaction with NUDT15.				base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|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)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ATGATATCTTCATTGCCGGCG	0.448								DNA polymerases (catalytic subunits)																														.											0													210	202	205					20																	5099481		2203	4300	6503	SO:0001583	missense	5111			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.253G>C	20.37:g.5099481C>G	ENSP00000368458:p.Glu85Gln		B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219431	0.79464	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.81	4.81	0.61882	Proliferating cell nuclear antigen, PCNA, N-terminal (1);	0.046072	0.85682	D	0.000000	T	0.66356	0.2781	M	0.62723	1.935	0.80722	D	1	P;B	0.38048	0.616;0.162	B;B	0.43194	0.411;0.261	T	0.70927	-0.4739	9	0.62326	D	0.03	-17.6534	16.6123	0.84886	0.0:1.0:0.0:0.0	.	85;85	B4DUA2;P12004	.;PCNA_HUMAN	Q	85	.	ENSP00000368438:E85Q	E	-	1	0	PCNA	5047481	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.322000	0.79097	2.471000	0.83476	0.563000	0.77884	GAA		0.448	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			G	5099481	C	G	5099481	3	3	50	1	0	0	0	0	1	0	0	0	11588	835	29	5	552	5	PCNA	20	5099481	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10		5099481	57926039	73	5060											
NECAB3	63941	broad.mit.edu;hgsc.bcm.edu	37	chr20	32258501	32258501	+	Frame_Shift_Del	DEL	C	C	-																															catactcactcggtgagatgCccatcaatgccgctgaacag																								rs576975573		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr20:32258501delC	ENST00000246190.6	-	3	307	c.252delG	c.(250-252)gggfs	p.G84fs	NECAB3_ENST00000375238.4_Frame_Shift_Del_p.G84fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	84					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						CGGTGAGATGCCCATCAATGC	0.547																																						.											0													61	65	64					20																	32258501		1980	4161	6141	SO:0001589	frameshift_variant	63941			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.252delG	20.37:g.32258501delC	ENSP00000246190:p.Gly84fs		A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	CCDS42866.1																																																																																				0.547	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			-	32258501	C	-	32258501	7	5	50	1	0	1	0	1	0	0	0	0	10306	726	26	0	978	0	NECAB3	20	32258501	Frame_Shift_Del	DEL	C	TCGA-KN-8435-01A-11D-2310-10	27159020	32258501	30767019	74	5061	125	2									
NECAB3	63941	bcgsc.ca	37	chr20	32258502	32258502	+	Frame_Shift_Del	DEL	C	C	-																															atactcactcggtgagatgcCcatcaatgccgctgaacagt																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr20:32258502delC	ENST00000246190.6	-	3	306	c.251delG	c.(250-252)gggfs	p.G84fs	NECAB3_ENST00000375238.4_Frame_Shift_Del_p.G84fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	84					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						GGTGAGATGCCCATCAATGCC	0.552																																						.											0													62	66	65					20																	32258502		1979	4159	6138	SO:0001589	frameshift_variant	63941			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.251delG	20.37:g.32258502delC	ENSP00000246190:p.Gly84fs		A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	CCDS42866.1																																																																																				0.552	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			-	32258502	C	-	32258502	7	5	50	1	0	1	0	1	0	0	0	0	10306	623	22	0	979	0	NECAB3	20	32258502	Frame_Shift_Del	DEL	C	TCGA-KN-8435-01A-11D-2310-10	1	32258502	30767018	75	5062	125	2									
GGT7	2686	broad.mit.edu	37	chr20	33447370	33447371	+	Frame_Shift_Ins	INS	-	-	G																															cgagccaggtagtggcgggcINSggcccgatggcaggaacgtc																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr20:33447370_33447371insG	ENST00000336431.5	-	7	933_934	c.889_890insC	c.(889-891)cgcfs	p.R297fs		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	297					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.R297H(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TAGTGGCGGGCGGCCCGATGGC	0.688																																						.											1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.890dupC	20.37:g.33447372_33447372dupG	ENSP00000338964:p.Arg297fs		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Frame_Shift_Ins	INS	ENST00000336431.5	37	CCDS13242.2																																																																																				0.688	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		G	33447371	-	G	33447370	7	5	50	1	0	1	1	0	0	0	0	0	6364	768	27	0	1134	0	GGT7	20	33447370	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	1188868	33447370	29578150	76	5063											
MFNG	4242	broad.mit.edu	37	chr22	37875491	37875491	+	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	gctctcagaagctgcagcagCgcccttgggttcacatagtt	8	10	11	12	1	2	1	2	0	1	1	3	1	2	1	1	1	4	6	1	1	2	4			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr22:37875491C>T	ENST00000356998.3	-	4	676	c.453G>A	c.(451-453)gcG>gcA	p.A151A	MFNG_ENST00000416983.3_Silent_p.A137A	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	151					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GCTGCAGCAGCGCCCTTGGGT	0.612																																						.											0													90	77	81					22																	37875491		2203	4300	6503	SO:0001819	synonymous_variant	4242			BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"Beta 3-glycosyltransferases"	7038	protein-coding gene	gene with protein product		602577	"manic fringe (Drosophila) homolog", "manic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.453G>A	22.37:g.37875491C>T			B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	CCDS13947.1																																																																																				0.612	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		T	37875491	C	T	37875491	2	4	50	1	0	0	0	0	0	0	0	1	9525	755	27	1		1	MFNG	22	37875491	Silent	SNP	C	TCGA-KN-8435-01A-11D-2310-10		37875491	13429075	77	5064											
SYNGR1	9145	broad.mit.edu	37	chr22	39777835	39777836	+	Frame_Shift_Ins	INS	-	-	C																															tggagcccactgggccggatINScccgccggtatgggcggcac																										TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr22:39777835_39777836insC	ENST00000328933.5	+	4	633_634	c.618_619insC	c.(619-621)cccfs	p.P207fs		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	207					protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTGGGCCGGATCCCGCCGGTAT	0.673																																						.											0																																										SO:0001589	frameshift_variant	9145			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.621dupC	22.37:g.39777838_39777838dupC	ENSP00000332287:p.Pro207fs		A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Frame_Shift_Ins	INS	ENST00000328933.5	37	CCDS13989.1																																																																																				0.673	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		C	39777836	-	C	39777835	7	5	50	1	0	1	1	0	0	0	0	0	15445	1432	50	0	835	0	SYNGR1	22	39777835	Frame_Shift_Ins	INS	-	TCGA-KN-8435-01A-11D-2310-10	1902344	39777835	11526731	78	5065											
BRD1	23774	broad.mit.edu;mdanderson.org	37	chr22	50216913	50216913	+	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	gccttctgggcacacgtcacAtggaatgctgtgtagcagtt	8	11	12	10	1	2	0	1	0	1	0	2	1	2	1	1	2	2	5	1	2	2	3			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chr22:50216913A>G	ENST00000216267.8	-	1	1539	c.1053T>C	c.(1051-1053)caT>caC	p.H351H	BRD1_ENST00000404034.1_Silent_p.H351H|BRD1_ENST00000542442.1_5'UTR|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404760.1_Silent_p.H351H|BRD1_ENST00000457780.2_Silent_p.H351H|BRD1_ENST00000459821.1_5'UTR	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	351					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)		CACACGTCACATGGAATGCTG	0.562																																						.											0													135	130	132					22																	50216913		2203	4300	6503	SO:0001819	synonymous_variant	23774			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.1053T>C	22.37:g.50216913A>G			A6ZJA4	Silent	SNP	ENST00000216267.8	37	CCDS14080.1																																																																																				0.562	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		G	50216913	A	G	50216913	2	3	50	1	0	0	0	0	0	0	0	1	1501	214	8	4		4	BRD1	22	50216913	Silent	SNP	A	TCGA-KN-8435-01A-11D-2310-10	10439078	50216913	1087653	79	5066											
USP11	8237	mdanderson.org	37	chrX	47092432	47092432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgttggctgtagaagagAacggacggcgatggcgacgg	9	6	18	8	6	0	2	0	0	0	2	0	6	0	3	0	5	2	3	0	5	3	2			TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chrX:47092432A>G	ENST00000218348.3	+	1	119	c.119A>G	c.(118-120)gAa>gGa	p.E40G	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	40					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						TGTAGAAGAGAACGgacggcg	0.637																																						.											0													24	22	22					X																	47092432		2203	4299	6502	SO:0001583	missense	8237			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.119A>G	X.37:g.47092432A>G	ENSP00000218348:p.Glu40Gly		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	A	2.393	-0.339424	0.05243	.	.	ENSG00000102226	ENST00000218348	T	0.22336	1.96	4.53	0.72	0.18214	.	.	.	.	.	T	0.08088	0.0202	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.27785	T	0.31	-1.3885	6.0165	0.19605	0.5144:0.0:0.4856:0.0	.	40	P51784	UBP11_HUMAN	G	40	ENSP00000218348:E40G	ENSP00000218348:E40G	E	+	2	0	USP11	46977376	0.008000	0.16893	0.041000	0.18516	0.014000	0.08584	0.710000	0.25748	0.095000	0.17434	-0.502000	0.04539	GAA		0.637	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		G	47092432	A	G	47092432	3	3	50	1	0	0	0	0	1	0	0	0	17039	246	9	4	121	4	USP11	23	47092432	Missense_Mutation	SNP	A	TCGA-KN-8435-01A-11D-2310-10		47092432	108178128	80	5067											
GPR112	139378	mdanderson.org	37	chrX	135431236	135431236	+	Missense_Mutation	SNP	T	T	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	ttaaaacaaccaccaattgcTtttcttctaatactagaaag	16	13	3	9	0	2	1	0	0	2	1	2	1	2	1	2	0	4	1	2	0	8	8	rs5930932	byFrequency	TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chrX:135431236T>C	ENST00000394143.1	+	6	5662	c.5371T>C	c.(5371-5373)Ttt>Ctt	p.F1791L	GPR112_ENST00000412101.1_Missense_Mutation_p.F1586L|GPR112_ENST00000370652.1_Missense_Mutation_p.F1791L|GPR112_ENST00000287534.4_Missense_Mutation_p.F1728L|GPR112_ENST00000394141.1_Missense_Mutation_p.F1586L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1791			F -> L (in dbSNP:rs5930932).		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)	p.F1791L(1)		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)					CACCAATTGCTTTTCTTCTAA	0.383													c|||	1834	0.485828	0.4569	0.3617	3775	,	,		15609	0.2778		0.3797	False		,,,				2504	0.3241					.											1	Substitution - Missense(1)	prostate(1)							LEU/PHE	2257,1576		567,784,339,280,232	133	133	133		5371	-1.8	0	X	dbSNP_114	133	3229,3499		567,1181,914,680,958	yes	missense	GPR112	NM_153834.3	22	1134,1965,1253,960,1190	CC,CT,C,TT,T		47.9935,41.1166,48.0542	benign	1791/3081	135431236	5486,5075	2202	4300	6502	SO:0001583	missense	139378			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.5371T>C	X.37:g.135431236T>C	ENSP00000377699:p.Phe1791Leu		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	786	0.47377938517179025	152	0.4175824175824176	84	0.29577464788732394	112	0.24669603524229075	190	0.3242320819112628	c	0.020	-1.432654	0.01108	0.588834	0.479935	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.20463	2.11;2.11;2.07;2.25;2.07	3.63	-1.78	0.07957	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37291	-0.9712	8	0.21014	T	0.42	.	5.3382	0.15969	0.0:0.2802:0.1606:0.5593	rs5930932;rs6635265;rs52832481;rs60264923;rs5930932	1728;1586;1791	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1791;1791;1586;1728;1586	ENSP00000377699:F1791L;ENSP00000359686:F1791L;ENSP00000416526:F1586L;ENSP00000287534:F1728L;ENSP00000377697:F1586L	ENSP00000287534:F1728L	F	+	1	0	GPR112	135258902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.934000	0.03955	-1.013000	0.03383	-1.690000	0.00728	TTT		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135431236	T	C	135431236	3	2	50	1	0	0	0	0	1	0	0	0	6629	1609	56	2	5381	2	GPR112	23	135431236	Missense_Mutation	SNP	T	TCGA-KN-8435-01A-11D-2310-10	88338804	135431236	19839324	81	5068											
CXorf1	9142	mdanderson.org	37	chrX	144909347	144909347	+	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	tttatctgctcaagcactttCgaccatattttattttagga	10	18	5	8	1	2	0	1	0	1	0	3	2	2	1	1	1	2	2	1	1	5	8	rs370861051		TCGA-KN-8435-01A-11D-2310-10	TCGA-KN-8435-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	715f59dd-a80f-422d-988c-f73f4b987baf	9cf36c04-1d2a-4e2f-902d-857033d208d3	g.chrX:144909347C>T	ENST00000408967.2	+	1	420	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	51						integral component of membrane (GO:0016021)		p.S51L(1)									CAAGCACTTTCGACCATATTT	0.313																																						.											1	Substitution - Missense(1)	large_intestine(1)						C	LEU/SER	1,3834		0,1,1631,571	87	86	86		152	-4.7	0	X		86	1,6725		0,1,2426,1872	no	missense	CXorf1	NM_004709.2	145	0,2,4057,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	benign	51/112	144909347	2,10559	2203	4299	6502	SO:0001583	missense	9142			Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"chromosome X open reading frame 1"	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.152C>T	X.37:g.144909347C>T	ENSP00000386149:p.Ser51Leu		Q14CW0	Missense_Mutation	SNP	ENST00000408967.2	37	CCDS14681.1	.	.	.	.	.	.	.	.	.	.	C	3.263	-0.150696	0.06585	2.61E-4	1.49E-4	ENSG00000221870	ENST00000408967	T	0.54279	0.58	5.68	-4.68	0.03309	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.09310	N	1	B	0.32051	0.354	B	0.23150	0.044	T	0.10894	-1.0610	9	0.87932	D	0	.	1.8321	0.03132	0.3277:0.1317:0.3753:0.1653	.	51	O96002	CX001_HUMAN	L	51	ENSP00000386149:S51L	ENSP00000386149:S51L	S	+	2	0	CXorf1	144717039	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.690000	0.05138	-1.099000	0.03034	0.594000	0.82650	TCG		0.313	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		T	144909347	C	T	144909347	3	4	50	1	0	0	0	0	1	0	0	0	4100	893	31	1	154	1	CXorf1	23	144909347	Missense_Mutation	SNP	C	TCGA-KN-8435-01A-11D-2310-10	9478111	144909347	10361213	82	5069											
ENO1	2023	broad.mit.edu;mdanderson.org	37	chr1	8922983	8922983	+	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	cttggccaagcgctcagatcGgcaaggggcaccagtcttga	9	7	13	12	2	2	2	1	1	1	1	3	2	2	2	2	4	1	3	2	4	2	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:8922983G>A	ENST00000234590.4	-	11	1317	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	400					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-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)		CGCTCAGATCGGCAAGGGGCA	0.562											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	.											0													69	63	65					1																	8922983		2203	4300	6503	SO:0001587	stop_gained	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1198C>T	1.37:g.8922983G>A	ENSP00000234590:p.Arg400*	653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Nonsense_Mutation	SNP	ENST00000234590.4	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	38	6.671518	0.97751	.	.	ENSG00000074800	ENST00000234590	.	.	.	5.59	2.45	0.29901	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	9.2527	13.3525	0.60609	0.0:0.0:0.4613:0.5387	.	.	.	.	X	400	.	ENSP00000234590:R400X	R	-	1	2	ENO1	8845570	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.068000	0.41471	0.684000	0.31448	0.561000	0.74099	CGA		0.562	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		A	8922983	G	A	8922983	4	1	51	1	0	0	0	0	0	1	0	0	5121	1124	39	1	114	1	ENO1	1	8922983	Nonsense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10		8922983	240327638	1	5070											
PRAMEF2	65122	mdanderson.org	37	chr1	12919552	12919552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactttacccacaggaggTggaaacttcaagtgctggat	11	11	10	9	0	1	0	1	0	0	0	1	3	1	3	1	4	4	1	1	4	4	4	rs74056159		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:12919552T>C	ENST00000240189.2	+	3	379	c.292T>C	c.(292-294)Tgg>Cgg	p.W98R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	98					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)		CCACAGGAGGTGGAAACTTCA	0.517																																						.											0													76	93	88					1																	12919552		2189	4294	6483	SO:0001583	missense	65122				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.292T>C	1.37:g.12919552T>C	ENSP00000240189:p.Trp98Arg			Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	T	2.064	-0.414612	0.04766	.	.	ENSG00000120952	ENST00000240189	T	0.16597	2.33	0.842	-1.68	0.08212	.	0.789017	0.12038	N	0.505349	T	0.09642	0.0237	L	0.37697	1.125	0.09310	N	1	B	0.14805	0.011	B	0.18561	0.022	T	0.37934	-0.9684	10	0.22109	T	0.4	.	1.3967	0.02262	0.3312:0.2798:0.0:0.3889	.	98	O60811	PRAM2_HUMAN	R	98	ENSP00000240189:W98R	ENSP00000240189:W98R	W	+	1	0	PRAMEF2	12842139	0.000000	0.05858	0.024000	0.17045	0.040000	0.13550	-0.349000	0.07731	-0.932000	0.03742	0.163000	0.16589	TGG		0.517	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		C	12919552	T	C	12919552	3	2	51	1	0	0	0	0	1	0	0	0	12435	1696	59	2	298	2	PRAMEF2	1	12919552	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	3996569	12919552	236331069	2	5071											
C1orf177	163747	bcgsc.ca	37	chr1	55279488	55279488	+	Splice_Site	DEL	A	A	-																															ttttctctctttttcttagaAaaaaaagcccagggaactga																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:55279488delA	ENST00000371273.3	+	7	779	c.764delA	c.(763-765)aaa>aa	p.K257fs	C1orf177_ENST00000358193.3_Splice_Site_p.K257fs	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	257										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TTTTCTTAGAAAAAAAAGCCC	0.418																																						.											0													49	56	54					1																	55279488		2203	4300	6503	SO:0001630	splice_region_variant	163747			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.763-1A>-	1.37:g.55279488delA			B7WPL2|Q8N7Y9	Frame_Shift_Del	DEL	ENST00000371273.3	37	CCDS44153.1																																																																																				0.418	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	Frame_Shift_Del	-	55279488	A	-	55279488	8	5	51	1	0	1	0	1	0	0	1	0	2017	28	1	0	790	0	C1orf177	1	55279488	Splice_Site	DEL	A	TCGA-KN-8436-01A-11D-2310-10	42359936	55279488	193971133	3	5072											
NBPF10	100132406	mdanderson.org	37	chr1	145368524	145368524	+	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	ttattcgactccgtcaatgtActttgaactacctgactcat	10	15	5	11	2	2	2	2	2	0	0	4	3	3	2	2	0	3	1	2	0	5	5	rs111770733	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:145368524A>T	ENST00000369339.3	+	17	2109	c.1856A>T	c.(1855-1857)tAc>tTc	p.Y619F	NBPF10_ENST00000369338.1_Missense_Mutation_p.Y617F|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y3501F			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	796	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCGTCAATGTACTTTGAACTA	0.448													.|||	31	0.0061901	0.0159	0	5008	,	,		51851	0.001		0.002	False		,,,				2504	0.0072					.											0																																										SO:0001583	missense	100132406			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.1856A>T	1.37:g.145368524A>T	ENSP00000358345:p.Tyr619Phe		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	0.426	-0.905953	0.02453	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.07327	3.2;3.2	0.732	-1.46	0.08800	.	.	.	.	.	T	0.02571	0.0078	M	0.70595	2.14	0.09310	N	1	B	0.14805	0.011	B	0.24006	0.05	T	0.45848	-0.9233	9	0.34782	T	0.22	.	1.3992	0.02267	0.3771:0.0:0.2897:0.3332	.	565	Q4VC10	.	F	621;617;3501	ENSP00000358344:Y617F;ENSP00000345684:Y3501F	ENSP00000345684:Y3501F	Y	+	2	0	NBPF10	144079881	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.188000	0.03064	-1.054000	0.03214	0.316000	0.21350	TAC		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		T	145368524	A	T	145368524	3	4	51	1	0	0	0	0	1	0	0	0	10193	391	14	5	10836	5	NBPF10	1	145368524	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	90089036	145368524	103882097	4	5073											
DPM3	54344	broad.mit.edu	37	chr1	155112594	155112594	+	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	gacaccagcaagtaggcgggCagtggccacaggacttcctg	10	5	14	12	1	0	0	0	0	0	0	1	2	1	1	3	4	1	3	3	4	2	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:155112594C>A	ENST00000341298.3	-	2	258	c.123G>T	c.(121-123)ctG>ctT	p.L41L	DPM3_ENST00000368399.1_Silent_p.L71L|DPM3_ENST00000368400.4_Silent_p.L41L			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	41					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGTAGGCGGGCAGTGGCCACA	0.662																																						.											0													32	33	33					1																	155112594		2202	4299	6501	SO:0001819	synonymous_variant	54344			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.123G>T	1.37:g.155112594C>A			Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Silent	SNP	ENST00000341298.3	37	CCDS1095.1																																																																																				0.662	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085519.1	NM_153741		A	155112594	C	A	155112594	2	1	51	1	0	0	0	0	0	0	0	1	4726	697	25	5		5	DPM3	1	155112594	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	9744070	155112594	94138027	5	5074											
USH2A	7399	broad.mit.edu;bcgsc.ca	37	chr1	215953292	215953292	+	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	cgtttgatttctcagggacaCtccagctcagatgcagagcc	9	10	10	12	1	2	3	2	1	1	2	4	4	3	4	2	1	3	3	2	1	0	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:215953292C>T	ENST00000307340.3	-	55	11218	c.10832G>A	c.(10831-10833)aGt>aAt	p.S3611N	USH2A_ENST00000366943.2_Missense_Mutation_p.S3611N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3611	Fibronectin type-III 21. {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)		CTCAGGGACACTCCAGCTCAG	0.532										HNSCC(13;0.011)																												.											0													166	131	143					1																	215953292		2203	4300	6503	SO:0001583	missense	7399			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.10832G>A	1.37:g.215953292C>T	ENSP00000305941:p.Ser3611Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	4.798	0.148453	0.09134	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58652	0.32;0.32	5.74	1.39	0.22231	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.568938	0.15713	N	0.248327	T	0.45438	0.1342	M	0.64676	1.99	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.29336	-1.0015	10	0.20519	T	0.43	.	2.4629	0.04546	0.1103:0.3484:0.3191:0.2222	.	3611	O75445	USH2A_HUMAN	N	3611	ENSP00000305941:S3611N;ENSP00000355910:S3611N	ENSP00000305941:S3611N	S	-	2	0	USH2A	214019915	0.000000	0.05858	0.151000	0.22473	0.960000	0.62799	-1.142000	0.03203	0.229000	0.21039	0.650000	0.86243	AGT		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215953292	C	T	215953292	3	4	51	1	0	0	0	0	1	0	0	0	17033	565	20	4	4848	4	USH2A	1	215953292	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	60840698	215953292	33297329	6	5075											
UGGT1	56886	broad.mit.edu;mdanderson.org	37	chr2	128945096	128945096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagtggcaggactacgAccaagagatcaaacagctac	14	4	11	12	2	1	1	1	0	0	1	1	5	1	3	2	3	4	2	2	3	4	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:128945096A>G	ENST00000259253.6	+	40	4597	c.4550A>G	c.(4549-4551)gAc>gGc	p.D1517G	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1493G|UGGT1_ENST00000465836.1_3'UTR	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1517	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|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 (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGGACTACGACCAAGAGATC	0.478																																						.											0													55	52	53					2																	128945096		2203	4300	6503	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4550A>G	2.37:g.128945096A>G	ENSP00000259253:p.Asp1517Gly		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	31	5.090764	0.94149	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.22134	1.97;1.97	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76096	-0.3084	9	.	.	.	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1517	Q9NYU2	UGGG1_HUMAN	G	1493;1517	ENSP00000365158:D1493G;ENSP00000259253:D1517G	.	D	+	2	0	UGGT1	128661566	1.000000	0.71417	0.902000	0.35471	0.969000	0.65631	8.669000	0.91163	2.371000	0.80710	0.533000	0.62120	GAC		0.478	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		G	128945096	A	G	128945096	3	3	51	1	0	0	0	0	1	0	0	0	16938	275	10	2	4708	2	UGGT1	2	128945096	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10		128945096	114254277	7	5076											
BBS5	129880	bcgsc.ca	37	chr2	170343593	170343593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaggtagactcttggtaAcaaatttaagaattctctgg	12	16	8	5	0	2	2	0	0	2	2	3	2	2	2	0	3	1	2	0	3	6	8			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:170343593A>G	ENST00000295240.3	+	3	533	c.157A>G	c.(157-159)Aca>Gca	p.T53A	BBS5_ENST00000392663.2_Missense_Mutation_p.T53A|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.T53A|BBS5_ENST00000554017.1_Missense_Mutation_p.T53A	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	53					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTCTTGGTAACAAATTTAAG	0.343									Bardet-Biedl syndrome																													.											0													175	182	180					2																	170343593		2203	4300	6503	SO:0001583	missense	129880	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.157A>G	2.37:g.170343593A>G	ENSP00000295240:p.Thr53Ala		D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734544	0.89482	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.91147	0.7212	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.985;0.996;0.998	D	0.92831	0.6280	10	0.87932	D	0	-16.5329	15.6945	0.77484	1.0:0.0:0.0:0.0	.	53;53;53	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	A	53	ENSP00000295240:T53A;ENSP00000452313:T53A;ENSP00000376431:T53A;ENSP00000424363:T53A	ENSP00000295240:T53A	T	+	1	0	BBS5;RP11-724O16.1	170051839	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.012000	0.93624	2.094000	0.63399	0.533000	0.62120	ACA		0.343	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		G	170343593	A	G	170343593	3	3	51	1	0	0	0	0	1	0	0	0	1340	43	2	2	167	2	BBS5	2	170343593	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	41398497	170343593	72855780	8	5077											
GLS	2744	broad.mit.edu	37	chr2	191765397	191765397	+	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	tgatgagttatatgaaagtgCtaaaaagcagtctggaggaa	16	10	12	3	0	1	3	0	3	1	0	1	5	1	5	0	2	2	3	0	2	7	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:191765397C>T	ENST00000320717.3	+	4	971	c.713C>T	c.(712-714)gCt>gTt	p.A238V	GLS_ENST00000338435.4_Missense_Mutation_p.A238V	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	238					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)	TATGAAAGTGCTAAAAAGCAG	0.328																																						.											0													120	115	117					2																	191765397		2203	4299	6502	SO:0001583	missense	2744			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.713C>T	2.37:g.191765397C>T	ENSP00000317379:p.Ala238Val		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768840	0.49680	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.42131	0.98;0.98	5.49	5.49	0.81192	Beta-lactamase/transpeptidase-like (1);	0.058328	0.64402	D	0.000002	T	0.38558	0.1045	L	0.42245	1.32	0.80722	D	1	B;B	0.17268	0.003;0.021	B;B	0.16722	0.002;0.016	T	0.17107	-1.0380	10	0.16420	T	0.52	-15.4944	19.736	0.96205	0.0:1.0:0.0:0.0	.	238;238	O94925;O94925-3	GLSK_HUMAN;.	V	238	ENSP00000317379:A238V;ENSP00000340689:A238V	ENSP00000317379:A238V	A	+	2	0	GLS	191473642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.824000	0.62701	2.732000	0.93576	0.557000	0.71058	GCT		0.328	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			T	191765397	C	T	191765397	3	4	51	1	0	0	0	0	1	0	0	0	6463	797	28	4	727	4	GLS	2	191765397	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	21421804	191765397	51433976	9	5078											
GAL3ST2	64090	broad.mit.edu	37	chr2	242743069	242743070	+	Frame_Shift_Del	DEL	CA	CA	-																															ggctggtgctcatcgccgagCacctggacgagtccctggtg																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:242743069_242743070delCA	ENST00000192314.6	+	4	816_817	c.685_686delCA	c.(685-687)cacfs	p.H229fs	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	229	Arg-rich.				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)		CATCGCCGAGCACCTGGACGAG	0.733																																						.											0																																										SO:0001589	frameshift_variant	64090			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.685_686delCA	2.37:g.242743069_242743070delCA	ENSP00000192314:p.His229fs		Q17RK0|Q57Z52	Frame_Shift_Del	DEL	ENST00000192314.6	37	CCDS33427.1																																																																																				0.733	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		-	242743070	CA	-	242743069	7	5	51	1	0	1	0	1	0	0	0	0	6198	710	25	0	699	0	GAL3ST2	2	242743069	Frame_Shift_Del	DEL	CA	TCGA-KN-8436-01A-11D-2310-10	50977672	242743069	456304	10	5079											
IL5RA	3568	mdanderson.org	37	chr3	3144422	3144422	+	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	ttaacattcctttgctcttgAtcaggatttggtttccattg	7	19	7	8	0	2	1	1	1	1	0	4	2	4	2	2	2	2	2	2	2	1	7			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:3144422A>G	ENST00000446632.2	-	4	739	c.165T>C	c.(163-165)gaT>gaC	p.D55D	IL5RA_ENST00000256452.3_Silent_p.D55D|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000383846.1_Silent_p.D55D|IL5RA_ENST00000418488.2_Silent_p.D55D|IL5RA_ENST00000445864.2_Silent_p.D55D|IL5RA_ENST00000456302.1_Silent_p.D55D|IL5RA_ENST00000311981.8_Silent_p.D55D|IL5RA_ENST00000430514.2_Silent_p.D55D|IL5RA_ENST00000438560.1_Silent_p.D55D	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	55	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TTTGCTCTTGATCAGGATTTG	0.333																																					GBM(169;430 2801 24955 28528)	.											0													96	94	95					3																	3144422		2203	4300	6503	SO:0001819	synonymous_variant	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.165T>C	3.37:g.3144422A>G			B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	CCDS2559.1																																																																																				0.333	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			G	3144422	A	G	3144422	2	3	51	1	0	0	0	0	0	0	0	1	7700	330	12	4		4	IL5RA	3	3144422	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10		3144422	194878008	11	5080											
ITPR1	3708	mdanderson.org	37	chr3	4856848	4856848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacacttttgctgacctgAggagtgagaagcagaagaag	13	9	13	6	0	0	6	0	4	0	3	0	8	0	7	1	1	2	2	1	1	3	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:4856848A>G	ENST00000443694.2	+	56	7768	c.7768A>G	c.(7768-7770)Agg>Ggg	p.R2590G	ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2542G|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R2590G|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2557G|ITPR1_ENST00000544951.1_Missense_Mutation_p.R568G|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2590G|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2557G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2605					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)	TGCTGACCTGAGGAGTGAGAA	0.468																																						.											0													129	127	128					3																	4856848		2137	4272	6409	SO:0001583	missense	3708			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.7768A>G	3.37:g.4856848A>G	ENSP00000401671:p.Arg2590Gly		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395866	0.83011	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99329	-4.26;-4.28;-4.27;-4.27;-4.25;-5.75;-4.26	4.84	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.96889	3.9	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.98406	1.0570	10	0.87932	D	0	.	11.591	0.50945	0.8503:0.1497:0.0:0.0	.	568;2605;2557	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	G	2605;2590;2590;2557;1051;2557;2542;568;2590	ENSP00000306253:R2590G;ENSP00000346595:R2590G;ENSP00000405934:R2557G;ENSP00000349597:R2557G;ENSP00000397885:R2542G;ENSP00000440564:R568G;ENSP00000401671:R2590G	ENSP00000306253:R2590G	R	+	1	2	ITPR1	4831848	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.213000	0.72194	0.666000	0.31087	0.383000	0.25322	AGG		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		G	4856848	A	G	4856848	3	3	51	1	0	0	0	0	1	0	0	0	7920	295	11	2	8039	2	ITPR1	3	4856848	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	1712426	4856848	193165582	12	5081											
UBP1	7342	mdanderson.org	37	chr3	33454243	33454243	+	Missense_Mutation	SNP	T	T	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	gaagtctgtctcctgggcgaTtccacttccatccttcaagt	7	13	8	13	1	3	0	1	0	2	0	7	2	6	0	4	1	0	0	4	1	2	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:33454243T>C	ENST00000283629.3	-	4	948	c.419A>G	c.(418-420)aAt>aGt	p.N140S	UBP1_ENST00000447368.2_Missense_Mutation_p.N140S|UBP1_ENST00000283628.5_Missense_Mutation_p.N140S|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	140					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCCTGGGCGATTCCACTTCCA	0.438																																						.											0													275	238	251					3																	33454243		2203	4300	6503	SO:0001583	missense	7342			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.419A>G	3.37:g.33454243T>C	ENSP00000283629:p.Asn140Ser		Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.694091	0.30052	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	6.17	3.8	0.43715	CP2 transcription factor (1);	0.043738	0.85682	D	0.000000	T	0.07188	0.0182	N	0.11673	0.155	0.53688	D	0.999978	B;B	0.27971	0.196;0.001	B;B	0.23419	0.046;0.016	T	0.14839	-1.0458	10	0.02654	T	1	-24.3373	10.7985	0.46474	0.0:0.1286:0.0:0.8714	.	140;140	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	S	140	ENSP00000283629:N140S;ENSP00000395558:N140S;ENSP00000283628:N140S;ENSP00000401614:N140S	ENSP00000283628:N140S	N	-	2	0	UBP1	33429247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.292000	0.72725	1.163000	0.42636	0.533000	0.62120	AAT		0.438	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		C	33454243	T	C	33454243	3	2	51	1	0	0	0	0	1	0	0	0	16892	1493	52	4	1255	4	UBP1	3	33454243	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	28597395	33454243	164568187	13	5082											
CDCP1	64866	mdanderson.org	37	chr3	45136963	45136963	+	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	cgagattctagacacacgaaAcagccagggacaaacttgcg	15	5	10	11	3	1	2	0	0	1	2	1	5	1	3	1	1	4	0	1	1	3	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:45136963A>G	ENST00000296129.1	-	5	1256	c.1122T>C	c.(1120-1122)tgT>tgC	p.C374C		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	374						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GACACACGAAACAGCCAGGGA	0.502																																						.											0													146	129	135					3																	45136963		2203	4300	6503	SO:0001819	synonymous_variant	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1122T>C	3.37:g.45136963A>G			Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	CCDS2727.1																																																																																				0.502	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		G	45136963	A	G	45136963	2	3	51	1	0	0	0	0	0	0	0	1	3093	41	2	2		2	CDCP1	3	45136963	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	11682720	45136963	152885467	14	5083											
CELSR3	1951	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	48681698	48681698	+	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	ccctgtggagcaggatgtgcGggcagcgaggagaaacatgg	10	5	18	8	2	0	1	0	0	0	1	0	5	0	3	1	5	4	2	1	5	1	0	rs373490754		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:48681698G>A	ENST00000164024.4	-	27	8396	c.8116C>T	c.(8116-8118)Cgc>Tgc	p.R2706C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2711C|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2706					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGATGTGCGGGCAGCGAGG	0.622													g|||	1	0.000199681	0	0	5008	,	,		18242	0		0	False		,,,				2504	0.001					.											0									CYS/ARG	0,4406		0,0,2203	63	59	60		8116	4.2	1	3		60	1,8595	1.2+/-3.3	0,1,4297	no	missense	CELSR3	NM_001407.2	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2706/3313	48681698	1,13001	2203	4298	6501	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8116C>T	3.37:g.48681698G>A	ENSP00000164024:p.Arg2706Cys		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.612736	0.87258	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.44482	0.92;0.92	5.13	4.16	0.48862	GPCR, family 2-like (1);	.	.	.	.	T	0.61048	0.2316	M	0.83692	2.655	0.41257	D	0.986755	D;D	0.65815	0.99;0.995	P;P	0.61070	0.883;0.745	T	0.67011	-0.5778	9	0.87932	D	0	.	10.4662	0.44609	0.0:0.0:0.5547:0.4453	.	2706;2803	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	2706;2711	ENSP00000164024:R2706C;ENSP00000445694:R2711C	ENSP00000164024:R2706C	R	-	1	0	CELSR3	48656702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.969000	0.63735	2.382000	0.81193	0.556000	0.70494	CGC		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48681698	G	A	48681698	3	1	51	1	0	0	0	0	1	0	0	0	3223	1116	39	1	1858	1	CELSR3	3	48681698	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	3544735	48681698	149340732	15	5084											
IFT80	57560	mdanderson.org	37	chr3	160095234	160095234	+	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	ttacctgtaactaatgctgtTccttcataattccatcttcc	9	17	3	12	0	2	0	1	0	1	0	5	0	5	0	4	0	3	3	4	0	4	8			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:160095234T>C	ENST00000326448.7	-	4	786	c.354A>G	c.(352-354)ggA>ggG	p.G118G	RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	118					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTAATGCTGTTCCTTCATAAT	0.313																																						.											0													118	110	113					3																	160095234		2202	4300	6502	SO:0001819	synonymous_variant	57560			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.354A>G	3.37:g.160095234T>C			B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	CCDS3188.1																																																																																				0.313	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		C	160095234	T	C	160095234	2	2	51	1	0	0	0	0	0	0	0	1	7564	1770	62	4		4	IFT80	3	160095234	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	111413536	160095234	37927196	16	5085											
NAALADL2	254827	mdanderson.org	37	chr3	175042057	175042057	+	Missense_Mutation	SNP	T	T	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	tgaatcctagccatgataccTtcatggtgtcactgaatcca	11	12	7	11	0	2	3	2	3	0	0	4	3	4	3	4	1	2	0	4	1	4	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:175042057T>C	ENST00000454872.1	+	5	1161	c.1033T>C	c.(1033-1035)Ttc>Ctc	p.F345L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	345						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)		CCATGATACCTTCATGGTGTC	0.423																																						.											0													189	185	186					3																	175042057		1905	4118	6023	SO:0001583	missense	254827				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.1033T>C	3.37:g.175042057T>C	ENSP00000404705:p.Phe345Leu		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676734	0.67928	.	.	ENSG00000177694	ENST00000454872	T	0.39787	1.06	5.58	5.58	0.84498	.	0.081678	0.52532	D	0.000076	T	0.54532	0.1864	L	0.49126	1.545	0.34876	D	0.744096	D	0.69078	0.997	D	0.75020	0.985	T	0.57923	-0.7727	10	0.11794	T	0.64	-15.9193	14.3279	0.66532	0.0:0.0:0.0:1.0	.	345	Q58DX5	NADL2_HUMAN	L	345	ENSP00000404705:F345L	ENSP00000404705:F345L	F	+	1	0	NAALADL2	176524751	1.000000	0.71417	0.896000	0.35187	0.956000	0.61745	5.751000	0.68720	2.122000	0.65172	0.460000	0.39030	TTC		0.423	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		C	175042057	T	C	175042057	3	2	51	1	0	0	0	0	1	0	0	0	10130	1609	56	2	1051	2	NAALADL2	3	175042057	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	14946823	175042057	22980373	17	5086											
MFN1	55669	mdanderson.org	37	chr3	179085853	179085853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctgaaggatttcatgcaAgattacaggaatttcagaat	14	13	9	5	0	2	3	2	1	0	2	2	5	2	5	0	2	3	2	0	2	5	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:179085853A>G	ENST00000471841.1	+	9	1063	c.937A>G	c.(937-939)Aga>Gga	p.R313G	MFN1_ENST00000263969.5_Missense_Mutation_p.R313G|MFN1_ENST00000280653.7_Missense_Mutation_p.R313G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	313	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATTTCATGCAAGATTACAGGA	0.348																																						.											0													75	76	75					3																	179085853		2203	4299	6502	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.937A>G	3.37:g.179085853A>G	ENSP00000420617:p.Arg313Gly		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885753	0.51908	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.71	5.34	4.14	0.48551	.	0.042672	0.85682	D	0.000000	D	0.97623	0.9221	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.83275	0.996;0.827;0.765	D	0.97606	1.0126	10	0.72032	D	0.01	-7.2796	11.8202	0.52235	0.7228:0.2772:0.0:0.0	.	313;341;313	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	G	313;313;313;313;176	ENSP00000420617:R313G;ENSP00000280653:R313G;ENSP00000263969:R313G;ENSP00000419926:R176G	ENSP00000263969:R313G	R	+	1	2	MFN1	180568547	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.269000	0.43346	0.914000	0.36822	0.528000	0.53228	AGA		0.348	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		G	179085853	A	G	179085853	3	3	51	1	0	0	0	0	1	0	0	0	9523	64	3	2	967	2	MFN1	3	179085853	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	4043796	179085853	18936577	18	5087											
ATP13A3	79572	broad.mit.edu;mdanderson.org	37	chr3	194158061	194158061	+	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	tgtttcaggtttacagagacCggcaatggcctcgggcgctc	7	10	13	11	3	1	1	1	0	0	1	3	2	1	1	2	4	1	4	2	4	2	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:194158061C>T	ENST00000439040.1	-	19	2769	c.1978G>A	c.(1978-1980)Ggt>Agt	p.G660S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.G660S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	660						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTACAGAGACCGGCAATGGCC	0.443																																						.											0													119	119	119					3																	194158061		1849	4091	5940	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1978G>A	3.37:g.194158061C>T	ENSP00000416508:p.Gly660Ser		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	5.577	0.291253	0.10567	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.69685	-0.42;-0.42	6.08	1.04	0.20106	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.149212	0.85682	N	0.000000	T	0.28599	0.0708	N	0.01076	-1.035	0.24675	N	0.993396	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.02654	T	1	0.4724	10.721	0.46040	0.0:0.2926:0.0:0.7074	.	660	Q9H7F0	AT133_HUMAN	S	660;660;398	ENSP00000416508:G660S;ENSP00000256031:G660S	ENSP00000256031:G660S	G	-	1	0	ATP13A3	195639350	0.992000	0.36948	0.992000	0.48379	0.799000	0.45148	0.520000	0.22878	0.187000	0.20147	-0.294000	0.09567	GGT		0.443	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		T	194158061	C	T	194158061	3	4	51	1	0	0	0	0	1	0	0	0	1125	652	23	1	1762	1	ATP13A3	3	194158061	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	15072208	194158061	3864369	19	5088											
PAK2	5062	mdanderson.org	37	chr3	196530022	196530022	+	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	gtgaagcagaaatatctgagCtttactcctcctggtaagag	12	11	10	8	0	1	4	0	2	1	2	3	4	3	4	2	1	3	3	2	1	5	4	rs115224945	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:196530022C>T	ENST00000327134.3	+	4	745	c.423C>T	c.(421-423)agC>agT	p.S141S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	141					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		AATATCTGAGCTTTACTCCTC	0.418																																						.											0													85	79	81					3																	196530022		2203	4300	6503	SO:0001819	synonymous_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.423C>T	3.37:g.196530022C>T			Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																				0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		T	196530022	C	T	196530022	2	4	51	1	0	0	0	0	0	0	0	1	11401	796	28	4		4	PAK2	3	196530022	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	2371961	196530022	1492408	20	5089											
ZNF141	7700	mdanderson.org	37	chr4	367169	367169	+	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	agaaaccctacaaatgtgaaGaatgtggcaaagcctttaat	17	9	8	7	0	0	3	0	1	0	2	0	3	0	3	2	1	3	1	2	1	7	3	rs145966198		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:367169G>A	ENST00000240499.7	+	4	1092	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	315					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAATGTGAAGAATGTGGCAA	0.388																																						.											0																																										SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.943G>A	4.37:g.367169G>A	ENSP00000240499:p.Glu315Lys		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327325	0.41197	.	.	ENSG00000131127	ENST00000240499	T	0.07327	3.2	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	L	0.42487	1.325	0.80722	P	0.0	P	0.39624	0.681	P	0.51833	0.681	T	0.18871	-1.0323	7	.	.	.	.	7.8922	0.29684	0.0:0.0:1.0:0.0	.	315	Q15928	ZN141_HUMAN	K	315	ENSP00000240499:E315K	.	E	+	1	0	ZNF141	357169	0.000000	0.05858	0.076000	0.20297	0.968000	0.65278	-0.068000	0.11561	0.591000	0.29711	0.313000	0.20887	GAA		0.388	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		A	367169	G	A	367169	3	1	51	1	0	0	0	0	1	0	0	0	17727	943	33	4	957	4	ZNF141	4	367169	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10		367169	190787107	21	5090											
ZNF141	7700	mdanderson.org	37	chr4	367199	367199	+	Missense_Mutation	SNP	A	A	T																															aagcctttaataggtccacaAcccttactaaacataagaga																								rs114931928		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:367199A>T	ENST00000240499.7	+	4	1122	c.973A>T	c.(973-975)Acc>Tcc	p.T325S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	325					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TAGGTCCACAACCCTTACTAA	0.383																																						.											0													56	62	60					4																	367199		2197	4296	6493	SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.973A>T	4.37:g.367199A>T	ENSP00000240499:p.Thr325Ser		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	3.741	-0.053524	0.07362	.	.	ENSG00000131127	ENST00000240499	T	0.07216	3.21	1.24	-0.0286	0.13921	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.04636	-0.2	0.09310	N	1	B	0.19200	0.034	B	0.22152	0.038	T	0.47995	-0.9073	8	.	.	.	.	4.1736	0.10341	0.7434:0.0:0.2566:0.0	.	325	Q15928	ZN141_HUMAN	S	325	ENSP00000240499:T325S	.	T	+	1	0	ZNF141	357199	0.000000	0.05858	0.216000	0.23742	0.983000	0.72400	-6.049000	0.00083	0.495000	0.27882	0.260000	0.18958	ACC		0.383	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		T	367199	A	T	367199	3	4	51	1	0	0	0	0	1	0	0	0	17727	43	2	5	987	5	ZNF141	4	367199	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	30	367199	190787077	22	5091	126	3									
ZNF141	7700	mdanderson.org	37	chr4	367201	367201	+	Silent	SNP	C	C	A																															gcctttaataggtccacaacCcttactaaacataagagaat																								rs111394409		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:367201C>A	ENST00000240499.7	+	4	1124	c.975C>A	c.(973-975)acC>acA	p.T325T	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	325					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GGTCCACAACCCTTACTAAAC	0.383																																						.											0													56	61	59					4																	367201		2198	4296	6494	SO:0001819	synonymous_variant	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.975C>A	4.37:g.367201C>A			Q6DK07	Silent	SNP	ENST00000240499.7	37	CCDS33931.1																																																																																				0.383	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		A	367201	C	A	367201	2	1	51	1	0	0	0	0	0	0	0	1	17727	610	22	5		5	ZNF141	4	367201	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	2	367201	190787075	23	5092	126	3									
ZNF141	7700	mdanderson.org	37	chr4	367206	367206	+	Missense_Mutation	SNP	C	C	G																															taataggtccacaacccttaCtaaacataagagaattcata																								rs113884485		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:367206C>G	ENST00000240499.7	+	4	1129	c.980C>G	c.(979-981)aCt>aGt	p.T327S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	327					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ACAACCCTTACTAAACATAAG	0.378																																						.											0													53	58	56					4																	367206		2200	4295	6495	SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.980C>G	4.37:g.367206C>G	ENSP00000240499:p.Thr327Ser		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468247	0.26335	.	.	ENSG00000131127	ENST00000240499	T	0.35973	1.28	1.24	0.227	0.15359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14700	0.0355	N	0.10733	0.035	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.27502	-1.0072	8	.	.	.	.	3.3488	0.07145	0.0:0.4599:0.0:0.5401	.	327	Q15928	ZN141_HUMAN	S	327	ENSP00000240499:T327S	.	T	+	2	0	ZNF141	357206	0.000000	0.05858	0.576000	0.28549	0.982000	0.71751	-2.477000	0.00985	0.591000	0.29711	0.313000	0.20887	ACT		0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		G	367206	C	G	367206	3	3	51	1	0	0	0	0	1	0	0	0	17727	565	20	5	994	5	ZNF141	4	367206	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	5	367206	190787070	24	5093	126	3									
UGT2B4	7363	mdanderson.org	37	chr4	70360910	70360910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcatgtcaaatatttggaAccaaaattcaaaataaagca	19	11	4	7	0	3	0	3	0	0	0	3	1	3	1	1	1	2	1	1	1	9	5			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:70360910A>G	ENST00000305107.6	-	1	716	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L	UGT2B4_ENST00000381096.3_Missense_Mutation_p.F88L|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.F224L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	224					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AATATTTGGAACCAAAATTCA	0.338																																						.											0													62	62	62					4																	70360910		2188	4298	6486	SO:0001583	missense	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.670T>C	4.37:g.70360910A>G	ENSP00000305221:p.Phe224Leu		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	A	8.544	0.874021	0.17395	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.60548	0.18;0.18;0.18	2.4	1.23	0.21249	.	0.314649	0.25329	U	0.031448	T	0.55721	0.1938	M	0.66378	2.025	0.09310	N	1	B;B;B	0.25272	0.057;0.002;0.122	B;B;B	0.39152	0.057;0.041;0.292	T	0.51787	-0.8661	10	0.42905	T	0.14	.	5.3485	0.16022	0.837:0.0:0.163:0.0	.	88;224;224	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	L	224;224;88	ENSP00000421290:F224L;ENSP00000305221:F224L;ENSP00000370486:F88L	ENSP00000305221:F224L	F	-	1	0	UGT2B4	70395499	0.000000	0.05858	0.061000	0.19648	0.011000	0.07611	0.099000	0.15210	1.101000	0.41535	0.248000	0.18094	TTC		0.338	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		G	70360910	A	G	70360910	3	3	51	1	0	0	0	0	1	0	0	0	16958	43	2	2	940	2	UGT2B4	4	70360910	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	69993704	70360910	120793366	25	5094											
C4orf40	401137	mdanderson.org	37	chr4	71021777	71021777	+	Missense_Mutation	SNP	T	T	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	tttctttattttagagacggTtccccttcattggtgaggta	7	18	9	7	1	2	2	1	1	1	1	3	3	3	2	2	3	0	2	2	3	3	9			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:71021777T>C	ENST00000344526.5	+	2	247	c.58T>C	c.(58-60)Ttc>Ctc	p.F20L	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.F20L	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		20						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTAGAGACGGTTCCCCTTCAT	0.264																																						.											0													38	40	39					4																	71021777		2197	4280	6477	SO:0001583	missense	401137																														ENST00000344526.5:c.58T>C	4.37:g.71021777T>C	ENSP00000343172:p.Phe20Leu		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.779120	0.31502	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.38560	1.13;1.13	3.32	0.843	0.18935	.	.	.	.	.	T	0.23727	0.0574	N	0.19112	0.55	0.09310	N	1	B	0.19817	0.039	B	0.14578	0.011	T	0.18053	-1.0349	9	0.33940	T	0.23	-0.0543	5.1565	0.15038	0.0:0.2532:0.0:0.7468	.	20	Q6MZM9	CD040_HUMAN	L	20	ENSP00000426249:F20L;ENSP00000343172:F20L	ENSP00000343172:F20L	F	+	1	0	C4orf40	71056366	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	0.718000	0.25866	0.190000	0.20209	0.491000	0.48974	TTC		0.264	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			C	71021777	T	C	71021777	3	2	51	1	0	0	0	0	1	0	0	0	2269	1725	60	2	64	2	C4orf40	4	71021777	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	660867	71021777	120132499	26	5095											
CDKL2	8999	mdanderson.org	37	chr4	76532490	76532490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaaatcgcatagcttgAcaacgccagactgggagact	14	7	9	11	2	0	3	0	1	0	2	2	4	1	3	2	1	2	2	2	1	4	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:76532490A>G	ENST00000429927.2	-	4	1122	c.419T>C	c.(418-420)gTc>gCc	p.V140A	CDKL2_ENST00000307465.4_Missense_Mutation_p.V140A	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GCATAGCTTGACAACGCCAGA	0.418																																						.											0													89	82	84					4																	76532490		2203	4300	6503	SO:0001583	missense	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.419T>C	4.37:g.76532490A>G	ENSP00000412365:p.Val140Ala		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	a	22.9	4.344614	0.82022	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.49139	0.79;0.79	4.72	4.72	0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.41050	0.1142	N	0.21583	0.68	0.44123	D	0.996901	P;B	0.40931	0.733;0.277	P;B	0.44597	0.454;0.166	T	0.44967	-0.9293	9	0.72032	D	0.01	-4.7673	13.6112	0.62080	1.0:0.0:0.0:0.0	.	140;140	B4DH08;Q92772	.;CDKL2_HUMAN	A	140	ENSP00000412365:V140A;ENSP00000306340:V140A	ENSP00000306340:V140A	V	-	2	0	CDKL2	76751514	1.000000	0.71417	0.884000	0.34674	0.981000	0.71138	5.041000	0.64196	2.105000	0.64084	0.520000	0.50463	GTC		0.418	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		G	76532490	A	G	76532490	3	3	51	1	0	0	0	0	1	0	0	0	3154	275	10	2	1094	2	CDKL2	4	76532490	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	5510713	76532490	114621786	27	5096											
CNOT6L	246175	mdanderson.org	37	chr4	78641756	78641756	+	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	ggccccaggacaccaagcacGttcatatgagtcttggaata	12	8	10	11	1	2	1	1	1	1	0	2	3	2	3	3	3	1	2	3	3	4	4	rs537970000		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:78641756G>A	ENST00000504123.1	-	12	1627	c.1497C>T	c.(1495-1497)aaC>aaT	p.N499N	CNOT6L_ENST00000264903.4_Silent_p.N499N			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	499	Nuclease domain.				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						CACCAAGCACGTTCATATGAG	0.428													G|||	1	0.000199681	0	0.0014	5008	,	,		20508	0		0	False		,,,				2504	0					.											0													147	142	144					4																	78641756		1919	4131	6050	SO:0001819	synonymous_variant	246175			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.1497C>T	4.37:g.78641756G>A			Q9UF92	Silent	SNP	ENST00000504123.1	37																																																																																					0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			A	78641756	G	A	78641756	2	1	51	1	0	0	0	0	0	0	0	1	3623	1136	40	1		1	CNOT6L	4	78641756	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	2109266	78641756	112512520	28	5097											
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-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	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																																						.											0													56	66	63					4																	88537027		1577	2848	4425	SO:0001583	missense	1834			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		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	51	1	0	0	0	0	1	0	0	0	4782	477	17	5	3227	5	DSPP	4	88537027	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	9895271	88537027	102617249	29	5098											
DSPP	1834	mdanderson.org	37	chr4	88537081	88537081	+	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	gaaagcagtgatagcagtgaCagcagcaatagcagtgacag	16	5	13	7	0	0	3	0	3	0	0	0	4	0	3	0	0	5	5	0	0	4	2	rs367717407|rs370267258	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:88537081C>T	ENST00000282478.7	+	4	3300	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	DSPP_ENST00000399271.1_Silent_p.D1089D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1089	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)		atagcagtgacagcagcaata	0.537													c|||	838	0.167332	0.2292	0.2133	5008	,	,		14171	0.1131		0.1461	False		,,,				2504	0.1288					.											0								C		1383,707		577,229,239	19	24	22		3267	0.6	0	4		22	2123,1867		754,615,626	no	coding-synonymous	DSPP	NM_014208.3		1331,844,865	TT,TC,CC		46.792,33.8278,42.3355		1089/1302	88537081	3506,2574	1045	1995	3040	SO:0001819	synonymous_variant	1834			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.3267C>T	4.37:g.88537081C>T			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	88537081	C	T	88537081	2	4	51	1	0	0	0	0	0	0	0	1	4782	477	17	4		4	DSPP	4	88537081	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	54	88537081	102617195	30	5099											
EIF4E	1977	mdanderson.org	37	chr4	99806181	99806181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatacatcatcactgtagTcatcaaaagattctccaata	16	11	3	11	0	5	1	4	0	1	1	6	1	5	1	1	0	1	1	1	0	6	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:99806181T>C	ENST00000450253.2	-	6	1955	c.431A>G	c.(430-432)gAc>gGc	p.D144G	EIF4E_ENST00000505992.1_Missense_Mutation_p.D175G|EIF4E_ENST00000280892.6_Missense_Mutation_p.D164G|EIF4E_ENST00000504432.1_Missense_Mutation_p.D172G	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	144					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)		ATCACTGTAGTCATCAAAAGA	0.338																																						.											0													56	51	53					4																	99806181		2203	4298	6501	SO:0001583	missense	1977			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.431A>G	4.37:g.99806181T>C	ENSP00000389624:p.Asp144Gly		B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475597	0.63737	.	.	ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992	T;T;T;T	0.44083	0.93;0.93;0.93;1.59	5.05	5.05	0.67936	Translation Initiation factor eIF- 4e-like  domain (2);	0.046398	0.85682	D	0.000000	T	0.49440	0.1557	M	0.74881	2.28	0.80722	D	1	B;B;B	0.16603	0.018;0.005;0.003	B;B;B	0.30782	0.085;0.12;0.085	T	0.52208	-0.8606	10	0.59425	D	0.04	-11.665	14.8686	0.70437	0.0:0.0:0.0:1.0	.	175;164;144	P06730-2;B7Z6V1;P06730	.;.;IF4E_HUMAN	G	144;164;172;175	ENSP00000389624:D144G;ENSP00000280892:D164G;ENSP00000423977:D172G;ENSP00000425561:D175G	ENSP00000280892:D164G	D	-	2	0	EIF4E	100025204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.850000	0.86915	1.910000	0.55303	0.451000	0.29950	GAC		0.338	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		C	99806181	T	C	99806181	3	2	51	1	0	0	0	0	1	0	0	0	5028	1667	58	2	230	2	EIF4E	4	99806181	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	11269100	99806181	91348095	31	5100											
ENPEP	2028	mdanderson.org	37	chr4	111430851	111430851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcactggtgccatggagaActggggactcatcacgtaca	10	8	13	10	1	2	1	2	0	0	1	2	3	2	2	1	5	3	2	1	5	2	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:111430851A>G	ENST00000265162.5	+	5	1424	c.1082A>G	c.(1081-1083)aAc>aGc	p.N361S	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	361	Substrate binding. {ECO:0000250}.				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)		GCCATGGAGAACTGGGGACTC	0.438																																						.											0													150	143	145					4																	111430851		2203	4300	6503	SO:0001583	missense	2028			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.1082A>G	4.37:g.111430851A>G	ENSP00000265162:p.Asn361Ser		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766774	0.49574	.	.	ENSG00000138792	ENST00000265162	T	0.07908	3.15	5.76	4.56	0.56223	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.076730	0.85682	D	0.000000	T	0.41994	0.1183	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59473	-0.7448	10	0.87932	D	0	.	13.0524	0.58962	0.8655:0.1345:0.0:0.0	.	361	Q07075	AMPE_HUMAN	S	361	ENSP00000265162:N361S	ENSP00000265162:N361S	N	+	2	0	ENPEP	111650300	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	9.291000	0.96070	0.979000	0.38497	-0.316000	0.08728	AAC		0.438	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			G	111430851	A	G	111430851	3	3	51	1	0	0	0	0	1	0	0	0	5128	43	2	2	1100	2	ENPEP	4	111430851	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	11624670	111430851	79723425	32	5101											
ABCE1	6059	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	146044440	146044440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaaacctgctgatgtctAtttaattgatgaaccatctg	11	13	9	8	0	2	3	0	3	2	0	2	3	2	3	2	1	3	2	2	1	4	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:146044440A>G	ENST00000296577.4	+	15	1963	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C	ABCE1_ENST00000502803.1_3'UTR|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	483	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GCTGATGTCTATTTAATTGAT	0.423																																						.											0													84	85	85					4																	146044440		2203	4300	6503	SO:0001583	missense	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1448A>G	4.37:g.146044440A>G	ENSP00000296577:p.Tyr483Cys		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133266	0.77662	.	.	ENSG00000164163	ENST00000296577	D	0.91686	-2.89	5.69	4.49	0.54785	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96356	0.9262	10	0.87932	D	0	.	13.1877	0.59691	0.8667:0.1333:0.0:0.0	.	483	P61221	ABCE1_HUMAN	C	483	ENSP00000296577:Y483C	ENSP00000296577:Y483C	Y	+	2	0	ABCE1	146263890	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	1.068000	0.40764	-0.313000	0.08912	TAT		0.423	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		G	146044440	A	G	146044440	3	3	51	1	0	0	0	0	1	0	0	0	64	449	16	4	1502	4	ABCE1	4	146044440	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	34613589	146044440	45109836	33	5102											
FHDC1	85462	mdanderson.org	37	chr4	153897154	153897154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaacgagagcatgcgcaAggtcatgcccatcaccaagt	14	5	11	11	2	2	2	2	0	0	2	2	4	2	2	2	1	4	2	2	1	3	0			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:153897154A>G	ENST00000511601.1	+	12	2899	c.2711A>G	c.(2710-2712)aAg>aGg	p.K904R	FHDC1_ENST00000260008.3_Missense_Mutation_p.K904R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	904									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGCATGCGCAAGGTCATGCCC	0.687																																						.											0													29	32	31					4																	153897154		2202	4299	6501	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2711A>G	4.37:g.153897154A>G	ENSP00000427567:p.Lys904Arg			Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.864262	0.71949	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.61859	0.07;0.07	4.98	4.98	0.66077	.	0.724112	0.13319	N	0.396836	T	0.65801	0.2726	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.57069	-0.7874	10	0.20519	T	0.43	.	14.6664	0.68910	1.0:0.0:0.0:0.0	.	904	Q9C0D6	FHDC1_HUMAN	R	904	ENSP00000427567:K904R;ENSP00000260008:K904R	ENSP00000260008:K904R	K	+	2	0	FHDC1	154116604	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	8.665000	0.91144	1.873000	0.54277	0.379000	0.24179	AAG		0.687	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		G	153897154	A	G	153897154	3	3	51	1	0	0	0	0	1	0	0	0	5876	72	3	2	2753	2	FHDC1	4	153897154	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	7852714	153897154	37257122	34	5103											
TLR3	7098	mdanderson.org	37	chr4	187004362	187004362	+	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	cattccagcctcttcgtaacTtgaccattctggatctaagc	9	13	6	13	1	3	1	0	1	3	0	5	2	4	2	3	1	3	1	3	1	2	6			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:187004362T>C	ENST00000296795.3	+	4	1626	c.1522T>C	c.(1522-1524)Ttg>Ctg	p.L508L	TLR3_ENST00000504367.1_Silent_p.L231L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	508					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTTCGTAACTTGACCATTCT	0.448																																						.											0													102	105	104					4																	187004362		2203	4300	6503	SO:0001819	synonymous_variant	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1522T>C	4.37:g.187004362T>C			B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	CCDS3846.1																																																																																				0.448	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			C	187004362	T	C	187004362	2	2	51	1	0	0	0	0	0	0	0	1	15949	1606	56	2		2	TLR3	4	187004362	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	33107208	187004362	4149914	35	5104											
FAT1	2195	broad.mit.edu;hgsc.bcm.edu	37	chr4	187584589	187584589	+	Frame_Shift_Del	DEL	G	G	-																															tctttaggagaattttccatGatttctgggtaataaacagg																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:187584589delG	ENST00000441802.2	-	3	3653	c.3444delC	c.(3442-3444)atcfs	p.I1148fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1148	Cadherin 10. {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						AATTTTCCATGATTTCTGGGT	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	.											0													176	169	171					4																	187584589		1895	4121	6016	SO:0001589	frameshift_variant	2195			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.3444delC	4.37:g.187584589delG	ENSP00000406229:p.Ile1148fs			Frame_Shift_Del	DEL	ENST00000441802.2	37	CCDS47177.1																																																																																				0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		-	187584589	G	-	187584589	7	5	51	1	0	1	0	1	0	0	0	0	5689	1280	45	0	10422	0	FAT1	4	187584589	Frame_Shift_Del	DEL	G	TCGA-KN-8436-01A-11D-2310-10	580227	187584589	3569687	36	5105	127	2									
FAT1	2195	bcgsc.ca	37	chr4	187584590	187584590	+	Frame_Shift_Del	DEL	G	G	-																															ctttaggagaattttccatgAtttctgggtaataaacaggc																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:187584590delG	ENST00000441802.2	-	3	3652	c.3443delC	c.(3442-3444)accfs	p.T1148fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1148	Cadherin 10. {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						ATTTTCCATGATTTCTGGGTA	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	.											0													178	170	173					4																	187584590		1897	4121	6018	SO:0001589	frameshift_variant	2195			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.3443delC	4.37:g.187584590delG	ENSP00000406229:p.Thr1148fs			Frame_Shift_Del	DEL	ENST00000441802.2	37	CCDS47177.1																																																																																				0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		-	187584590	G	-	187584590	7	5	51	1	0	1	0	1	0	0	0	0	5689	333	12	0	10423	0	FAT1	4	187584590	Frame_Shift_Del	DEL	G	TCGA-KN-8436-01A-11D-2310-10	1	187584590	3569686	37	5106	127	2									
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038461	+	In_Frame_Del	DEL	CACCACCACCACCAC	CACCACCACCACCAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989|rs143388141		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CACCACCACCACCAC	CACCACCACCACCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:1038447_1038461delCACCACCACCACCAC	ENST00000296849.5	+	10	1544_1558	c.1315_1329delCACCACCACCACCAC	c.(1315-1329)caccaccaccaccacdel	p.HHHHH439del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.PPPPP79del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	439	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)			ccaccacgagcaccaccaccaccaccaccaccacc	0.688																																						.											0																																										SO:0001651	inframe_deletion	85409			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_1329delCACCACCACCACCAC	5.37:g.1038447_1038461delCACCACCACCACCAC	ENSP00000296849:p.His439_His443del		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	CCDS3859.1																																																																																				0.688	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		-	1038461	CACCACCACCACCAC	-	1038447	7	5	51	1	0	1	0	1	0	0	0	0	10442	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CACCACCACCACCAC	TCGA-KN-8436-01A-11D-2310-10		1038447	179876813	38	5107											
SLC6A19	340024	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	1214087	1214087	+	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	ggtcacggagctggcccagcCggacacctggctggacgcgg	6	4	17	14	4	1	0	1	0	0	0	1	3	1	3	3	7	2	2	3	7	0	0	rs148139045		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:1214087C>T	ENST00000304460.10	+	6	850	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	265					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGGCCCAGCCGGACACCTGG	0.657													C|||	1	0.000199681	0	0	5008	,	,		17246	0		0.001	False		,,,				2504	0					.											0								C	LEU/PRO	0,4406		0,0,2203	75	78	77		794	5	0.9	5	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A19	NM_001003841.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	265/635	1214087	1,13005	2203	4300	6503	SO:0001583	missense	340024			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.794C>T	5.37:g.1214087C>T	ENSP00000305302:p.Pro265Leu		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.61	3.860605	0.71834	0.0	1.16E-4	ENSG00000174358	ENST00000304460	T	0.77358	-1.09	4.96	4.96	0.65561	.	0.099721	0.64402	D	0.000001	D	0.83538	0.5276	M	0.74881	2.28	0.80722	D	1	D	0.56968	0.978	P	0.51453	0.67	D	0.86435	0.1763	10	0.72032	D	0.01	.	17.1671	0.86819	0.0:1.0:0.0:0.0	.	265	Q695T7	S6A19_HUMAN	L	265	ENSP00000305302:P265L	ENSP00000305302:P265L	P	+	2	0	SLC6A19	1267087	0.939000	0.31865	0.923000	0.36655	0.629000	0.37895	1.987000	0.40687	2.296000	0.77279	0.491000	0.48974	CCG		0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		T	1214087	C	T	1214087	3	4	51	1	0	0	0	0	1	0	0	0	14682	652	23	1	816	1	SLC6A19	5	1214087	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	175640	1214087	179701173	39	5108											
SLC1A3	6507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	36680556	36680556	+	Missense_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	gaacaatggcgtggacaagcGcgtcaccagattcgtgctcc	10	7	12	12	4	1	1	1	0	0	1	3	3	2	2	2	2	3	1	2	2	3	1	rs115702388	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:36680556G>A	ENST00000265113.4	+	8	1630	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R385H	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	385					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)			GTGGACAAGCGCGTCACCAGA	0.522													G|||	5	0.000998403	0.0038	0	5008	,	,		20116	0		0	False		,,,				2504	0					.											0								G	HIS/ARG,HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	108	91	97		1154,1154	5.8	0.9	5	dbSNP_132	97	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC1A3	NM_001166695.1,NM_004172.4	29,29	0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923	probably-damaging,probably-damaging	385/498,385/543	36680556	12,12994	2203	4300	6503	SO:0001583	missense	6507				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.1154G>A	5.37:g.36680556G>A	ENSP00000265113:p.Arg385His		B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.152219	0.94645	0.002497	1.16E-4	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.59772	0.24;0.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.75884	2.315	0.58432	D	0.999999	P;D	0.71674	0.903;0.998	B;D	0.80764	0.33;0.994	T	0.77485	-0.2570	10	0.56958	D	0.05	-10.6026	20.0609	0.97674	0.0:0.0:1.0:0.0	.	385;385	Q4JCQ8;P43003	.;EAA1_HUMAN	H	385;333;385	ENSP00000265113:R385H;ENSP00000371343:R385H	ENSP00000265113:R385H	R	+	2	0	SLC1A3	36716313	1.000000	0.71417	0.868000	0.34077	0.657000	0.38888	8.054000	0.89451	2.755000	0.94549	0.655000	0.94253	CGC		0.522	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		A	36680556	G	A	36680556	3	1	51	1	0	0	0	0	1	0	0	0	14433	1087	38	1	1197	1	SLC1A3	5	36680556	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	35466469	36680556	144234704	40	5109											
GCNT4	51301	mdanderson.org	37	chr5	74325354	74325354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcaactttgaaggtaTcaggtgccttacgatcataa	12	12	9	8	1	3	1	3	1	0	0	3	2	3	1	1	3	3	2	1	3	5	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:74325354T>C	ENST00000322348.4	-	1	1370	c.509A>G	c.(508-510)gAt>gGt	p.D170G		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	170					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)		TTTGAAGGTATCAGGTGCCTT	0.388																																						.											0													150	147	148					5																	74325354		2203	4300	6503	SO:0001583	missense	51301			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.509A>G	5.37:g.74325354T>C	ENSP00000317027:p.Asp170Gly			Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	8.629	0.893283	0.17613	.	.	ENSG00000176928	ENST00000322348	T	0.10860	2.83	6.17	2.19	0.27852	.	1.026770	0.07657	N	0.932996	T	0.10551	0.0258	L	0.55990	1.75	0.09310	N	1	B	0.26602	0.154	B	0.27380	0.079	T	0.42189	-0.9466	10	0.25751	T	0.34	-3.0761	2.6203	0.04914	0.2341:0.0635:0.2431:0.4593	.	170	Q9P109	GCNT4_HUMAN	G	170	ENSP00000317027:D170G	ENSP00000317027:D170G	D	-	2	0	GCNT4	74361110	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.726000	0.25984	0.511000	0.28236	0.533000	0.62120	GAT		0.388	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		C	74325354	T	C	74325354	3	2	51	1	0	0	0	0	1	0	0	0	6303	1435	50	4	856	4	GCNT4	5	74325354	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	37644798	74325354	106589906	41	5110											
RAPGEF6	51735	bcgsc.ca	37	chr5	130788798	130788798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcagaagtcattcgaacaActtggcggatttccttggaa	12	11	10	8	2	1	1	1	0	0	1	3	4	2	3	1	3	3	1	1	3	5	5			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:130788798A>G	ENST00000509018.1	-	21	3354	c.3149T>C	c.(3148-3150)gTt>gCt	p.V1050A	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.V1100A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V1055A|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V1050A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V1050A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.V765A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V1050A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1050	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CATTCGAACAACTTGGCGGAT	0.358																																					Melanoma(168;435 1955 13113 13877 23213)	.											0													107	107	107					5																	130788798		2203	4300	6503	SO:0001583	missense	51735			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.3149T>C	5.37:g.130788798A>G	ENSP00000421684:p.Val1050Ala		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494322	0.85069	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.118660	0.56097	D	0.000032	T	0.42359	0.1199	M	0.62088	1.915	0.80722	D	1	P;B;P;B;P;P;B	0.48089	0.788;0.03;0.855;0.357;0.905;0.865;0.392	B;B;P;B;B;P;B	0.49561	0.289;0.038;0.615;0.142;0.405;0.61;0.201	T	0.44742	-0.9308	10	0.87932	D	0	.	14.8925	0.70620	1.0:0.0:0.0:0.0	.	1050;1050;1050;765;1100;1055;1050	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	A	1050;1055;1050;1050;1055;765;1050;1100	ENSP00000421684:V1050A;ENSP00000309298:V1055A;ENSP00000426081:V1050A;ENSP00000296859:V1050A;ENSP00000426910:V765A;ENSP00000311419:V1050A;ENSP00000426948:V1100A	ENSP00000426948:V1100A	V	-	2	0	RAPGEF6;FNIP1	130816697	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	1.991000	0.58162	0.383000	0.25322	GTT		0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		G	130788798	A	G	130788798	3	3	51	1	0	0	0	0	1	0	0	0	13048	43	2	2	2151	2	RAPGEF6	5	130788798	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	56463444	130788798	50126462	42	5111											
FNIP1	96459	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	131008278	131008278	+	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	gtgaaatgttctctacatttTgcccaaggagtggatgactg	10	13	11	7	0	1	2	0	2	1	0	2	4	1	4	1	2	2	1	1	2	3	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:131008278T>A	ENST00000510461.1	-	14	1954	c.1859A>T	c.(1858-1860)cAa>cTa	p.Q620L	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.Q592L|FNIP1_ENST00000307954.8_Missense_Mutation_p.Q575L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	620					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTCTACATTTTGCCCAAGGAG	0.373																																						.											0													128	132	130					5																	131008278		2203	4300	6503	SO:0001583	missense	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1859A>T	5.37:g.131008278T>A	ENSP00000421985:p.Gln620Leu		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983243	0.35036	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.14144	2.53;2.53;2.53	5.97	4.75	0.60458	.	.	.	.	.	T	0.11665	0.0284	L	0.34521	1.04	0.80722	D	1	B;P;B	0.38504	0.277;0.634;0.022	B;B;B	0.35971	0.206;0.215;0.014	T	0.06716	-1.0811	9	0.49607	T	0.09	-1.3887	12.9473	0.58379	0.0:0.0:0.1349:0.8651	.	620;592;620	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	L	592;575;372;620	ENSP00000309266:Q592L;ENSP00000310453:Q575L;ENSP00000421985:Q620L	ENSP00000310453:Q575L	Q	-	2	0	FNIP1	131036177	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.247000	0.43151	2.288000	0.76882	0.533000	0.62120	CAA		0.373	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		A	131008278	T	A	131008278	3	1	51	1	0	0	0	0	1	0	0	0	5975	1812	63	5	1661	5	FNIP1	5	131008278	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	219480	131008278	49906982	43	5112											
RNF145	153830	bcgsc.ca	37	chr5	158630640	158630640	+	5'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	agccatgttgttttttttttTctttttttttttcttggaga	4	27	6	4	0	2	1	0	0	2	1	2	2	2	1	1	1	1	2	1	1	0	12	rs368977591		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:158630640T>C	ENST00000424310.2	-	0	345				RNF145_ENST00000521606.2_Missense_Mutation_p.K13E|RNF145_ENST00000518802.1_Missense_Mutation_p.K26E|RNF145_ENST00000520638.1_Missense_Mutation_p.K10E|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.K24E	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttttcttttttttt	0.368																																						.											0													33	36	35					5																	158630640		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-15A>G	5.37:g.158630640T>C			B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.071233	0.00379	.	.	ENSG00000145860	ENST00000274542;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000520638	T;T;T;T;T	0.77489	-1.09;-1.07;-1.07;-1.1;-1.06	1.66	0.33	0.15929	.	4.233800	0.00610	N	0.000418	T	0.52581	0.1743	N	0.08118	0	0.09310	N	0.999996	P;P;P;P;P	0.42584	0.784;0.544;0.544;0.544;0.673	B;B;B;B;B	0.28638	0.092;0.032;0.032;0.032;0.071	T	0.53711	-0.8400	10	0.41790	T	0.15	18.6048	3.7362	0.08511	0.0:0.2254:0.0:0.7746	.	12;13;10;26;24	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1-2	.;.;.;.;.	E	24;12;13;26;10	ENSP00000274542:K24E;ENSP00000430753:K12E;ENSP00000445115:K13E;ENSP00000430955:K26E;ENSP00000429071:K10E	ENSP00000274542:K24E	K	-	1	0	RNF145	158563218	0.030000	0.19436	0.002000	0.10522	0.002000	0.02628	0.517000	0.22832	-0.074000	0.12820	-1.322000	0.01289	AAA		0.368	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		C	158630640	T	C	158630640	1	2	51	0	1	0	0	0	0	0	0	0	13447	1792	62	4		4	RNF145	5	158630640	5'UTR	SNP	T	TCGA-KN-8436-01A-11D-2310-10	27622362	158630640	22284620	44	5113											
HLA-B	3106	mdanderson.org	37	chr6	31323116	31323116	+	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	catctcagggtgaggggcttCggcagcccctcatgctgtac	6	9	13	13	1	2	1	2	1	1	0	4	1	2	1	2	4	3	4	2	4	1	2	rs1131446	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:31323116C>T	ENST00000412585.2	-	4	901	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	291	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGAGGGGCTTCGGCAGCCCCT	0.577									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				C|||	485	0.096845	0.0749	0.0922	5008	,	,		21693	0.0754		0.1074	False		,,,				2504	0.1411					.											0													60	57	58					6																	31323116		2203	4300	6503	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.873G>A	6.37:g.31323116C>T			Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.577	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31323116	C	T	31323116	2	4	51	1	0	0	0	0	0	0	0	1	7196	871	31	1		1	HLA-B	6	31323116	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10		31323116	139791951	45	5114											
HLA-DRB5	3127	mdanderson.org	37	chr6	32487169	32487169	+	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	cattccactgtgagagggctCgtcacgcttgggtgctccac	6	10	12	13	2	1	1	1	1	0	1	4	2	3	1	2	2	1	3	2	2	0	2	rs143127183	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32487169C>T	ENST00000374975.3	-	3	692	c.630G>A	c.(628-630)acG>acA	p.T210T		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGAGAGGGCTCGTCACGCTTG	0.493													C|||	233	0.0465256	0.059	0.0389	5008	,	,		12789	0.0685		0.0368	False		,,,				2504	0.0225					.											0													73	83	80					6																	32487169		1886	3734	5620	SO:0001819	synonymous_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.630G>A	6.37:g.32487169C>T				Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.493	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32487169	C	T	32487169	2	4	51	1	0	0	0	0	0	0	0	1	7209	871	31	1		1	HLA-DRB5	6	32487169	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	1164053	32487169	138627898	46	5115			1	39		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB5	3127	mdanderson.org	37	chr6	32487214	32487214	+	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	caggtgtaaacctctccactTcgaggaactgtttccagcat	10	11	8	12	1	1	0	0	0	1	0	4	2	2	1	3	2	3	3	3	2	3	3	rs557324709|rs144016913|rs41544512	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32487214T>C	ENST00000374975.3	-	3	647	c.585A>G	c.(583-585)cgA>cgG	p.R195R		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCTCTCCACTTCGAGGAACTG	0.532													t|||	3842	0.767173	0.795	0.8847	5008	,	,		12516	0.7242		0.8171	False		,,,				2504	0.6391					.											0								C		2567,1093		1247,73,510	57	63	61		585	1.8	0.2	6	dbSNP_134	61	5042,2194		2446,150,1022	no	coding-synonymous	HLA-DRB5	NM_002125.3		3693,223,1532	CC,CT,TT		30.3206,29.8634,30.167		195/267	32487214	7609,3287	1830	3618	5448	SO:0001819	synonymous_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.585A>G	6.37:g.32487214T>C				Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.532	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32487214	T	C	32487214	2	2	51	1	0	0	0	0	0	0	0	1	7209	1770	62	4		4	HLA-DRB5	6	32487214	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	45	32487214	138627853	47	5116			1	39		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB5	3127	mdanderson.org	37	chr6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G																															tggaaggtccagtctccattCtgaatcaggcctgtggacac																								rs139485758	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309					.											1	Substitution - Missense(1)	NS(1)											61	68	65					6																	32487265		1933	3889	5822	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487265	C	G	32487265	3	3	51	1	0	0	0	0	1	0	0	0	7209	912	32	5	282	5	HLA-DRB5	6	32487265	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	51	32487265	138627802	48	5117	128	2	1	39		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB5	3127	mdanderson.org	37	chr6	32487268	32487268	+	Silent	SNP	A	A	G																															aaggtccagtctccattctgAatcaggcctgtggacaccac																								rs75732937	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32487268A>G	ENST00000374975.3	-	3	593	c.531T>C	c.(529-531)atT>atC	p.I177I		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CTCCATTCTGAATCAGGCCTG	0.547													a|||	1034	0.20647	0.2784	0.1513	5008	,	,		14313	0.2331		0.162	False		,,,				2504	0.1667					.											0								G		2642,1214		1289,64,575	61	67	65		531	1.6	0.4	6	dbSNP_131	65	5362,2452		2595,172,1140	no	coding-synonymous	HLA-DRB5	NM_002125.3		3884,236,1715	GG,GA,AA		31.3796,31.4834,31.4139		177/267	32487268	8004,3666	1928	3907	5835	SO:0001819	synonymous_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.531T>C	6.37:g.32487268A>G				Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.547	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487268	A	G	32487268	2	3	51	1	0	0	0	0	0	0	0	1	7209	242	9	4		4	HLA-DRB5	6	32487268	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	3	32487268	138627799	49	5118	128	2	1	39		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB5	3127	bcgsc.ca	37	chr6	32489853	32489853	+	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	cacgtcgctgtcgaagcgcaAgtcctcctcttggttataga	8	11	10	12	4	1	1	0	0	1	1	5	2	3	1	2	1	1	3	2	1	4	3	rs78961241	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32489853A>C	ENST00000374975.3	-	2	261	c.199T>G	c.(199-201)Ttg>Gtg	p.L67V		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TCGAAGCGCAAGTCCTCCTCT	0.577																																						.											0								C	VAL/LEU	2586,1204		1234,118,543	36	33	34		199	1.9	0	6	dbSNP_131	34	4829,2467		2224,381,1043	yes	missense	HLA-DRB5	NM_002125.3	32	3458,499,1586	CC,CA,AA		33.813,31.7678,33.1138	benign	67/267	32489853	7415,3671	1895	3648	5543	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.199T>G	6.37:g.32489853A>C	ENSP00000364114:p.Leu67Val			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1631	0.7467948717948718	319	0.6483739837398373	310	0.856353591160221	456	0.7972027972027972	546	0.7203166226912929	.	0.616	-0.823178	0.02755	0.682322	0.66187	ENSG00000198502	ENST00000374975	T	0.00291	8.27	4.81	1.93	0.25924	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	1.770390	0.03508	N	0.219068	T	0.00012	0.0000	N	0.01096	-1.015	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.10520	-1.0626	9	0.02654	T	1	.	4.8505	0.13535	0.1413:0.505:0.2738:0.08	rs1059580;rs1064668;rs2308797;rs3200314;rs3205648	67	Q30154	DRB5_HUMAN	V	67	ENSP00000364114:L67V	ENSP00000364114:L67V	L	-	1	2	HLA-DRB5	32597831	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.699000	0.01906	-0.141000	0.11374	-0.464000	0.05259	TTG		0.577	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32489853	A	C	32489853	3	2	51	1	0	0	0	0	1	0	0	0	7209	69	3	5	621	5	HLA-DRB5	6	32489853	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	2585	32489853	138625214	50	5119			1	39		5	4	2685	N	T_C_A	2.309802e-07
HLA-DRB1	3123	bcgsc.ca	37	chr6	32551999	32551999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttccagtactcagcgTcaggccgccccagctccgtc	5	8	11	17	3	2	0	2	0	0	0	5	0	4	0	5	2	3	4	5	2	1	2	rs17885129	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32551999T>C	ENST00000360004.5	-	2	362	c.257A>G	c.(256-258)gAc>gGc	p.D86G		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	86	Beta-1.				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)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTACTCAGCGTCAGGCCGCCC	0.627										Multiple Myeloma(14;0.17)																												.											0													38	41	40					6																	32551999		2192	4284	6476	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.257A>G	6.37:g.32551999T>C	ENSP00000353099:p.Asp86Gly		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	11.82	1.752417	0.31046	.	.	ENSG00000196126	ENST00000360004	T	0.00269	8.37	3.52	-7.04	0.01578	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	11.458300	0.00979	N	0.003354	T	0.00109	0.0003	M	0.93763	3.455	0.09310	N	1	B	0.19935	0.04	B	0.31245	0.126	T	0.41106	-0.9527	10	0.72032	D	0.01	.	2.7835	0.05367	0.4374:0.0858:0.3314:0.1454	rs17885129;rs28724093;rs34095932	86	P01911	2B1F_HUMAN	G	86	ENSP00000353099:D86G	ENSP00000353099:D86G	D	-	2	0	HLA-DRB1	32659977	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.520000	0.00221	-1.648000	0.01510	-0.554000	0.04202	GAC		0.627	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		C	32551999	T	C	32551999	3	2	51	1	0	0	0	0	1	0	0	0	7208	1667	58	2	563	2	HLA-DRB1	6	32551999	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	62146	32551999	138563068	51	5120											
HLA-DRB1	3123	mdanderson.org	37	chr6	32552123	32552123	+	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	ctccgtcccattgaagaaatGacactccctcttaggctgcc	9	10	7	15	1	1	3	0	2	1	1	4	3	4	3	4	1	1	1	4	1	3	2	rs17879702	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32552123G>A	ENST00000360004.5	-	2	238	c.133C>T	c.(133-135)Cat>Tat	p.H45Y		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	45	Beta-1.				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)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TTGAAGAAATGACACTCCCTC	0.607										Multiple Myeloma(14;0.17)			G|||	483	0.0964457	0.0877	0.0893	5008	,	,		6110	0.1518		0.0666	False		,,,				2504	0.0869					.											0								G	TYR/HIS	269,3975		10,249,1863	17	17	17		133	0.5	0.9	6	dbSNP_124	17	223,8099		6,211,3944	yes	missense	HLA-DRB1	NM_002124.3	83	16,460,5807	AA,AG,GG		2.6796,6.3384,3.9153		45/267	32552123	492,12074	2122	4161	6283	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.133C>T	6.37:g.32552123G>A	ENSP00000353099:p.His45Tyr		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	229	0.10485347985347986	47	0.09552845528455285	36	0.09944751381215469	90	0.15734265734265734	56	0.07387862796833773	.	10.85	1.465736	0.26335	0.063384	0.026796	ENSG00000196126	ENST00000360004	T	0.00305	8.18	3.52	0.466	0.16716	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.903373	0.09722	N	0.764256	T	0.00178	0.0005	L	0.45698	1.435	0.38322	P	0.05645	D	0.89917	1.0	D	0.91635	0.999	T	0.48198	-0.9056	9	0.56958	D	0.05	.	3.2704	0.06879	0.3419:0.2092:0.4489:0.0	rs17879702	45	P01911	2B1F_HUMAN	Y	45	ENSP00000353099:H45Y	ENSP00000353099:H45Y	H	-	1	0	HLA-DRB1	32660101	0.055000	0.20627	0.860000	0.33809	0.020000	0.10135	-0.022000	0.12480	0.246000	0.21394	0.453000	0.30009	CAT		0.607	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		A	32552123	G	A	32552123	3	1	51	1	0	0	0	0	1	0	0	0	7208	1290	45	4	687	4	HLA-DRB1	6	32552123	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	124	32552123	138562944	52	5121											
HLA-DQA1	3117	bcgsc.ca	37	chr6	32609299	32609299	+	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	caaaacacaacttgaacatcAtgattaaacgctacaactct	18	9	3	11	1	2	2	1	2	1	0	2	2	2	2	0	0	6	1	0	0	8	3	rs199556640|rs371894400|rs1064944	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32609299A>C	ENST00000343139.5	+	2	397	c.295A>C	c.(295-297)Atg>Ctg	p.M99L	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.M99L|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.M99L	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	98	Alpha-1.				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						CTTGAACATCATGATTAAACG	0.478																																						.											0								C	LEU/MET	392,3666		82,228,1719	95	82	86		295	-7.9	0	6	dbSNP_86	86	635,6861		87,461,3200	yes	missense	HLA-DQA1	NM_002122.3	15	169,689,4919	CC,CA,AA		8.4712,9.6599,8.8887	benign	99/256	32609299	1027,10527	2029	3748	5777	SO:0001583	missense	3117				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	ENST00000343139.5:c.295A>C	6.37:g.32609299A>C	ENSP00000339398:p.Met99Leu		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	SNP	ENST00000343139.5	37	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.630061	0.00115	0.096599	0.084712	ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	T;T;T;T	0.00628	6.11;6.11;6.11;6.11	3.97	-7.95	0.01148	.	1.376450	0.04709	N	0.417235	T	0.00039	0.0001	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42292	-0.9460	10	0.02654	T	1	.	0.8881	0.01249	0.3982:0.2011:0.1237:0.2771	rs1064944;rs1064945;rs1142336;rs3188083;rs3205995;rs12722087;rs17405576;rs17415903;rs28383452	105;99	Q59F33;G4XQK2	.;.	L	99	ENSP00000339398:M99L;ENSP00000378767:M99L;ENSP00000437302:M99L;ENSP00000364087:M99L	ENSP00000339398:M99L	M	+	1	0	HLA-DQA1	32717277	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-13.284000	0.00001	-6.444000	0.00004	-0.922000	0.02736	ATG		0.478	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		C	32609299	A	C	32609299	3	2	51	1	0	0	0	0	1	0	0	0	7204	217	8	5	301	5	HLA-DQA1	6	32609299	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	57176	32609299	138505768	53	5122			2	40	119446	2	2	14	A		5.417096e-05
HLA-DQA1	3117	bcgsc.ca	37	chr6	32609312	32609312	+	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	gaacatcatgattaaacgctAcaactctaccgctgctacca	14	9	5	13	2	2	1	1	1	1	0	2	2	2	1	2	0	7	3	2	0	7	4	rs1129808	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:32609312A>C	ENST00000343139.5	+	2	410	c.308A>C	c.(307-309)tAc>tCc	p.Y103S	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.Y103S|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.Y103S	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	102	Alpha-1.				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						ATTAAACGCTACAACTCTACC	0.468													.|||	2180	0.435304	0.3873	0.6153	5008	,	,		11385	0.4147		0.501	False		,,,				2504	0.3262					.											0								C	SER/TYR	808,3428		291,226,1601	83	69	74		308	3.1	0.2	6	dbSNP_86	74	1870,6184		638,594,2795	yes	missense	HLA-DQA1	NM_002122.3	144	929,820,4396	CC,CA,AA		23.2183,19.0746,21.7901	benign	103/256	32609312	2678,9612	2118	4027	6145	SO:0001583	missense	3117				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	ENST00000343139.5:c.308A>C	6.37:g.32609312A>C	ENSP00000339398:p.Tyr103Ser		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	SNP	ENST00000343139.5	37	CCDS4752.1	998|998	0.45695970695970695|0.45695970695970695	166|166	0.33739837398373984|0.33739837398373984	207|207	0.5718232044198895|0.5718232044198895	275|275	0.4807692307692308|0.4807692307692308	350|350	0.46174142480211083|0.46174142480211083	.|.	0.041|0.041	-1.285527|-1.285527	0.01387|0.01387	0.190746|0.190746	0.232183|0.232183	ENSG00000196735|ENSG00000196735	ENST00000486548|ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	.|T;T;T;T	.|0.00644	.|6.01;6.01;6.01;6.01	3.97|3.97	3.11|3.11	0.35812|0.35812	.|.	.|0.418357	.|0.24189	.|N	.|0.040724	T|T	0.00073|0.00073	0.0002|0.0002	N|N	0.00092|0.00092	-2.175|-2.175	0.35002|0.35002	P|P	0.24390500000000004|0.24390500000000004	.|B;B	.|0.15141	.|0.012;0.0	.|B;B	.|0.22880	.|0.042;0.003	T|T	0.13255|0.13255	-1.0516|-1.0516	4|9	.|0.02654	.|T	.|1	.|.	12.6013|12.6013	0.56499|0.56499	0.1821:0.8179:0.0:0.0|0.1821:0.8179:0.0:0.0	rs1129808;rs1142337;rs3188091;rs3205997;rs9272711;rs12722088;rs17415910;rs36218703|rs1129808;rs1142337;rs3188091;rs3205997;rs9272711;rs12722088;rs17415910;rs36218703	.|109;103	.|Q59F33;G4XQK2	.|.;.	P|S	76|103	.|ENSP00000339398:Y103S;ENSP00000378767:Y103S;ENSP00000437302:Y103S;ENSP00000364087:Y103S	.|ENSP00000339398:Y103S	T|Y	+|+	1|2	0|0	HLA-DQA1|HLA-DQA1	32717290|32717290	0.051000|0.051000	0.20477|0.20477	0.243000|0.243000	0.24186|0.24186	0.024000|0.024000	0.10985|0.10985	-0.092000|-0.092000	0.11129|0.11129	0.478000|0.478000	0.27488|0.27488	-0.922000|-0.922000	0.02736|0.02736	ACA|TAC		0.468	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		C	32609312	A	C	32609312	3	2	51	1	0	0	0	0	1	0	0	0	7204	391	14	5	314	5	HLA-DQA1	6	32609312	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	13	32609312	138505755	54	5123			2	40	119446	2	2	14	A		5.417096e-05
PEX6	5190	ucsc.edu	37	chr6	42933101	42933101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggcaaggagctgagacAccaccctggagagaagggag	12	3	16	10	1	0	2	0	1	0	2	1	7	0	5	2	4	1	3	2	4	2	0			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:42933101A>G	ENST00000304611.8	-	14	2546	c.2477T>C	c.(2476-2478)gTg>gCg	p.V826A	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	826					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GAGCTGAGACACCACCCTGGA	0.577																																						.											0													94	80	85					6																	42933101		2203	4300	6503	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2477T>C	6.37:g.42933101A>G	ENSP00000303511:p.Val826Ala		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710784	0.89112	.	.	ENSG00000124587	ENST00000304611	D	0.93763	-3.28	5.84	5.84	0.93424	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.95948	0.8952	10	0.72032	D	0.01	-20.2207	15.9056	0.79427	1.0:0.0:0.0:0.0	.	826	Q13608	PEX6_HUMAN	A	826	ENSP00000303511:V826A	ENSP00000303511:V826A	V	-	2	0	PEX6	43041079	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.090000	0.94144	2.233000	0.73108	0.454000	0.30748	GTG		0.577	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		G	42933101	A	G	42933101	3	3	51	1	0	0	0	0	1	0	0	0	11750	159	6	2	481	2	PEX6	6	42933101	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	10323789	42933101	128181966	55	5124											
CAPN11	11131	ucsc.edu	37	chr6	44140054	44140054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggactgctggctgcTggctgccatcggctccctta	4	10	13	14	1	0	0	0	0	0	0	3	1	2	1	3	5	3	5	3	5	1	1	rs397947482|rs57288791|rs111320370	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:44140054T>C	ENST00000398776.1	+	5	463	c.425T>C	c.(424-426)cTg>cCg	p.L142P	CAPN11_ENST00000542245.1_Missense_Mutation_p.L142P	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	142	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGGCTGCTGGCTGCCATC	0.582											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													12	15	14					6																	44140054		1959	4096	6055	SO:0001583	missense	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.425T>C	6.37:g.44140054T>C	ENSP00000381758:p.Leu142Pro	921	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354124	0.82243	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;D	0.93019	-3.15;-3.15;-3.15	4.05	4.05	0.47172	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.38605	N	0.001632	D	0.98353	0.9453	H	0.99887	4.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98507	1.0617	10	0.87932	D	0	.	13.2146	0.59851	0.0:0.0:0.0:1.0	.	142	Q9UMQ6	CAN11_HUMAN	P	142;142;172	ENSP00000381758:L142P;ENSP00000441078:L142P;ENSP00000432420:L172P	ENSP00000381758:L142P	L	+	2	0	CAPN11	44248032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.062000	0.61559	0.533000	0.62120	CTG		0.582	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			C	44140054	T	C	44140054	3	2	51	1	0	0	0	0	1	0	0	0	2624	1580	55	2	443	2	CAPN11	6	44140054	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	1206953	44140054	126975013	56	5125											
CRISP1	167	mdanderson.org	37	chr6	49825056	49825056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcacatactttcatggAcaacataggcagtaagcaag	15	8	7	11	0	2	0	2	0	0	0	2	1	2	1	1	2	3	3	1	2	5	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr6:49825056A>G	ENST00000335847.4	-	2	159	c.58T>C	c.(58-60)Tcc>Ccc	p.S20P	CRISP1_ENST00000505118.1_Missense_Mutation_p.S20P|CRISP1_ENST00000507853.1_Missense_Mutation_p.S20P|CRISP1_ENST00000355791.2_Missense_Mutation_p.S20P|CRISP1_ENST00000329411.5_Missense_Mutation_p.S20P|CRISP1_ENST00000536021.1_Missense_Mutation_p.S20P	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	20					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ACTTTCATGGACAACATAGGC	0.333																																						.											0													90	82	85					6																	49825056		2203	4300	6503	SO:0001583	missense	167			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.58T>C	6.37:g.49825056A>G	ENSP00000338276:p.Ser20Pro		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	A	1.910	-0.450893	0.04572	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0	4.22	-1.85	0.07784	CAP domain (2);	1.552690	0.03792	N	0.263113	T	0.01254	0.0041	N	0.04787	-0.16	0.09310	N	1	B;B	0.22851	0.076;0.046	B;B	0.23716	0.048;0.021	T	0.44467	-0.9326	9	.	.	.	.	4.321	0.11016	0.1521:0.163:0.0:0.6849	.	20;20	P54107-2;P54107	.;CRIS1_HUMAN	P	20	ENSP00000425020:S20P;ENSP00000338276:S20P;ENSP00000348044:S20P;ENSP00000331317:S20P;ENSP00000427589:S20P;ENSP00000441798:S20P	.	S	-	1	0	CRISP1	49933015	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.139000	0.10358	-0.291000	0.09012	-0.168000	0.13345	TCC		0.333	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		G	49825056	A	G	49825056	3	3	51	1	0	0	0	0	1	0	0	0	3879	275	10	2	719	2	CRISP1	6	49825056	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	5685002	49825056	121290011	57	5126											
TAX1BP1	8887	mdanderson.org	37	chr7	27839640	27839640	+	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	cttgcaaaaatggagctgaaAtggaaagaacaagtgaaaat	20	7	10	4	0	0	3	0	2	0	1	0	5	0	5	0	2	3	2	0	2	8	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:27839640A>G	ENST00000396319.2	+	13	1783	c.1695A>G	c.(1693-1695)aaA>aaG	p.K565K	TAX1BP1_ENST00000543117.1_Silent_p.K565K|TAX1BP1_ENST00000433216.2_Silent_p.K408K|TAX1BP1_ENST00000409980.1_Silent_p.K565K|TAX1BP1_ENST00000265393.6_Silent_p.K565K	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	565					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGGAGCTGAAATGGAAAGAAC	0.289																																						.											0													92	88	89					7																	27839640		2203	4297	6500	SO:0001819	synonymous_variant	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1695A>G	7.37:g.27839640A>G			B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	CCDS5415.1																																																																																				0.289	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		G	27839640	A	G	27839640	2	3	51	1	0	0	0	0	0	0	0	1	15591	98	4	4		4	TAX1BP1	7	27839640	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10		27839640	131299023	58	5127											
PHTF2	57157	mdanderson.org	37	chr7	77569448	77569448	+	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	ttccgactttctcaagctacAgacttggaacaactcacagc	12	10	6	13	1	2	1	2	0	1	1	4	3	3	2	1	1	5	1	1	1	4	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:77569448A>G	ENST00000248550.7	+	13	1645	c.1569A>G	c.(1567-1569)acA>acG	p.T523T	PHTF2_ENST00000307305.8_Silent_p.T485T|PHTF2_ENST00000422959.2_Silent_p.T489T|PHTF2_ENST00000424760.1_Silent_p.T485T|PHTF2_ENST00000416283.2_Silent_p.T489T|PHTF2_ENST00000275575.7_Silent_p.T485T			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	523					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						CTCAAGCTACAGACTTGGAAC	0.368																																						.											0													110	101	104					7																	77569448		1860	4104	5964	SO:0001819	synonymous_variant	57157			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.1569A>G	7.37:g.77569448A>G			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37																																																																																					0.368	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		G	77569448	A	G	77569448	2	3	51	1	0	0	0	0	0	0	0	1	11863	175	7	2		2	PHTF2	7	77569448	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	49729808	77569448	81569215	59	5128											
PCLO	27445	broad.mit.edu;mdanderson.org	37	chr7	82579610	82579610	+	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	tttaaaacttcggggatcatCtgtcatattttctcccatgt	9	17	6	9	1	4	0	2	0	2	0	6	1	4	1	1	2	1	0	1	2	3	6	rs202185916		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:82579610C>T	ENST00000333891.9	-	6	10631	c.10294G>A	c.(10294-10296)Gat>Aat	p.D3432N	PCLO_ENST00000437081.1_Missense_Mutation_p.D152N|PCLO_ENST00000423517.2_Missense_Mutation_p.D3432N	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						CGGGGATCATCTGTCATATTT	0.418													C|||	1	0.000199681	0	0	5008	,	,		21775	0		0.001	False		,,,				2504	0					.											0								C	ASN/ASP,ASN/ASP	0,3786		0,0,1893	124	114	117		10294,10294	5.9	1	7		117	4,8234		0,4,4115	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	23,23	0,4,6008	TT,TC,CC		0.0486,0.0,0.0333	possibly-damaging,possibly-damaging	3432/4936,3432/5143	82579610	4,12020	1893	4119	6012	SO:0001583	missense	27445			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.10294G>A	7.37:g.82579610C>T	ENSP00000334319:p.Asp3432Asn			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.27	2.187005	0.38609	0.0	4.86E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35048	2.4;2.4;1.33	5.95	5.95	0.96441	.	.	.	.	.	T	0.42017	0.1184	L	0.36672	1.1	0.36920	D	0.891354	B;P;P	0.46142	0.023;0.873;0.873	B;P;P	0.47346	0.023;0.544;0.544	T	0.44452	-0.9327	9	0.87932	D	0	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	3363;3432;3432	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	3363;3432;3432;152	ENSP00000334319:D3432N;ENSP00000388393:D3432N;ENSP00000393760:D152N	ENSP00000334319:D3432N	D	-	1	0	PCLO	82417546	0.997000	0.39634	0.997000	0.53966	0.742000	0.42306	4.382000	0.59594	2.825000	0.97269	0.655000	0.94253	GAT		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82579610	C	T	82579610	3	4	51	1	0	0	0	0	1	0	0	0	11583	913	32	4	5231	4	PCLO	7	82579610	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	5010162	82579610	76559053	60	5129											
ADAM22	53616	mdanderson.org	37	chr7	87607668	87607668	+	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	tagttgactcatgttgaccaAgcaagcttccaggttgatgc	10	12	10	9	0	1	3	1	3	0	0	2	3	2	3	2	1	3	5	2	1	3	5			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:87607668A>G	ENST00000265727.7	+	3	343	c.264A>G	c.(262-264)caA>caG	p.Q88Q	ADAM22_ENST00000398209.3_Silent_p.Q88Q|ADAM22_ENST00000398204.4_Silent_p.Q88Q|ADAM22_ENST00000439864.1_Silent_p.Q88Q|ADAM22_ENST00000315984.7_Silent_p.Q88Q|ADAM22_ENST00000398201.4_Silent_p.Q88Q			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	88					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)			ATGTTGACCAAGCAAGCTTCC	0.348																																						.											0													198	175	182					7																	87607668		1890	4112	6002	SO:0001819	synonymous_variant	53616			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.264A>G	7.37:g.87607668A>G			O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	CCDS47637.1																																																																																				0.348	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		G	87607668	A	G	87607668	2	3	51	1	0	0	0	0	0	0	0	1	244	69	3	2		2	ADAM22	7	87607668	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	5028058	87607668	71530995	61	5130											
DOCK4	9732	mdanderson.org;bcgsc.ca	37	chr7	111580241	111580241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctaagaactgcacagccaaAgggtcgtcggtactggacac	12	6	12	11	2	0	1	0	0	0	1	2	2	0	2	1	3	4	3	1	3	4	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:111580241A>G	ENST00000437633.1	-	11	1157	c.901T>C	c.(901-903)Ttt>Ctt	p.F301L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.F301L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	301					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)				GCACAGCCAAAGGGTCGTCGG	0.448																																						.											0													181	187	185					7																	111580241		1968	4144	6112	SO:0001583	missense	9732				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.901T>C	7.37:g.111580241A>G	ENSP00000404179:p.Phe301Leu		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509593	0.64522	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03831	3.79;3.79	6.06	4.89	0.63831	.	0.095096	0.85682	D	0.000000	T	0.08935	0.0221	M	0.62723	1.935	0.80722	D	1	B;B;B	0.28552	0.049;0.049;0.215	B;B;B	0.32465	0.024;0.016;0.146	T	0.03641	-1.1017	10	0.52906	T	0.07	.	13.4862	0.61366	0.8694:0.1306:0.0:0.0	.	301;301;301	A4D0S8;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	L	289;301;301;289;300	ENSP00000410746:F301L;ENSP00000404179:F301L	ENSP00000345432:F289L	F	-	1	0	DOCK4	111367477	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.873000	0.75541	1.091000	0.41335	0.533000	0.62120	TTT		0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		G	111580241	A	G	111580241	3	3	51	1	0	0	0	0	1	0	0	0	4689	72	3	2	5167	2	DOCK4	7	111580241	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	23972573	111580241	47558422	62	5131											
FLNC	2318	bcgsc.ca	37	chr7	128477551	128477551	+	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	ccaagctcaaacctggtgccCctgttcgatccaagcagctg	9	8	9	15	1	1	0	1	0	0	0	3	1	2	0	5	1	5	4	5	1	3	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:128477551C>T	ENST00000325888.8	+	4	1060	c.799C>T	c.(799-801)Cct>Tct	p.P267S	FLNC_ENST00000346177.6_Missense_Mutation_p.P267S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	267					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						ACCTGGTGCCCCTGTTCGATC	0.592																																						.											0													132	143	139					7																	128477551		2172	4295	6467	SO:0001583	missense	2318			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.799C>T	7.37:g.128477551C>T	ENSP00000327145:p.Pro267Ser		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187648	0.78789	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.87491	-2.26;-2.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	M	0.84082	2.675	0.58432	D	0.999999	P;P	0.42827	0.477;0.791	B;B	0.41374	0.107;0.355	D	0.91376	0.5123	10	0.87932	D	0	.	17.7208	0.88350	0.0:1.0:0.0:0.0	.	267;267	Q14315-2;Q14315	.;FLNC_HUMAN	S	267	ENSP00000327145:P267S;ENSP00000344002:P267S	ENSP00000327145:P267S	P	+	1	0	FLNC	128264787	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.818000	0.86416	2.431000	0.82371	0.655000	0.94253	CCT		0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128477551	C	T	128477551	3	4	51	1	0	0	0	0	1	0	0	0	5935	623	22	3	813	3	FLNC	7	128477551	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	16897310	128477551	30661112	63	5132											
ARHGEF5	7984	mdanderson.org	37	chr7	144070326	144070326	+	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	aacaatgtccagagtatgcgAcggacagaggaactaatcta	16	7	10	8	2	1	2	0	0	1	2	2	5	2	4	1	2	3	1	1	2	6	3	rs201695853	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:144070326A>G	ENST00000056217.5	+	10	4263	c.4089A>G	c.(4087-4089)cgA>cgG	p.R1363R	ARHGEF5_ENST00000471847.2_Silent_p.R285R	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1363					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)					AGAGTATGCGACGGACAGAGG	0.512													A|||	3	0.000599042	0	0.0043	5008	,	,		19709	0		0	False		,,,				2504	0					.											0													127	118	121					7																	144070326		2055	4072	6127	SO:0001819	synonymous_variant	7984			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.4089A>G	7.37:g.144070326A>G			A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	A	2.328	-0.354109	0.05173	.	.	ENSG00000050327	ENST00000474817	.	.	.	4.54	-9.07	0.00724	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.53005	D	0.999967	.	.	.	.	.	.	T	0.49925	-0.8887	4	.	.	.	-9.5765	5.4746	0.16688	0.146:0.309:0.4434:0.1015	.	.	.	.	G	617	.	.	D	+	2	0	ARHGEF5	143701259	0.047000	0.20315	0.213000	0.23690	0.278000	0.26855	-0.764000	0.04735	-2.655000	0.00422	-1.106000	0.02097	GAC		0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		G	144070326	A	G	144070326	2	3	51	1	0	0	0	0	0	0	0	1	909	262	10	2		2	ARHGEF5	7	144070326	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10	15592775	144070326	15068337	64	5133											
DCAF13	25879	mdanderson.org	37	chr8	104442840	104442840	+	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	attgttatacttgtttttagAcatttctcttgggaagttgt	8	21	8	4	0	1	1	0	0	1	1	2	2	1	2	0	1	1	3	0	1	4	10			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr8:104442840A>G	ENST00000297579.5	+	6	1358	c.1081A>G	c.(1081-1083)Aca>Gca	p.T361A	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	209					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						TTGTTTTTAGACATTTCTCTT	0.363																																						.											0													226	218	221					8																	104442840		2203	4300	6503	SO:0001630	splice_region_variant	25879			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.1081-1A>G	8.37:g.104442840A>G			Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120313	0.56613	.	.	ENSG00000164934	ENST00000297579	T	0.01347	4.99	5.25	5.25	0.73442	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	0.03871	0.0109	M	0.77712	2.385	0.80722	D	1	B	0.27117	0.168	B	0.34489	0.184	T	0.42396	-0.9454	9	.	.	.	-18.7305	15.1592	0.72767	1.0:0.0:0.0:0.0	.	209	Q9NV06	DCA13_HUMAN	A	361	ENSP00000297579:T361A	.	T	+	1	0	DCAF13	104512016	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	6.490000	0.73645	1.996000	0.58369	0.455000	0.32223	ACA		0.363	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	Missense_Mutation	G	104442840	A	G	104442840	5	3	51	1	0	0	0	0	0	0	1	0	4266	289	10	2	1103	2	DCAF13	8	104442840	Splice_Site	SNP	A	TCGA-KN-8436-01A-11D-2310-10		104442840	41921182	65	5134											
GRIN3A	116443	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	104432589	104432589	+	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	ttcgccccttgggagtcaaaCcaaatggactcttccattca	10	11	7	13	1	3	0	2	0	1	0	5	2	4	2	4	2	1	0	4	2	2	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:104432589C>A	ENST00000361820.3	-	3	2705	c.2105G>T	c.(2104-2106)gGt>gTt	p.G702V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	702					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)	GGGAGTCAAACCAAATGGACT	0.473																																						.											0													130	136	134					9																	104432589		2203	4300	6503	SO:0001583	missense	116443				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.2105G>T	9.37:g.104432589C>A	ENSP00000355155:p.Gly702Val		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764413	0.69878	.	.	ENSG00000198785	ENST00000361820	T	0.53640	0.61	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	0.89534	3.04	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	.	702	Q8TCU5	NMD3A_HUMAN	V	702	ENSP00000355155:G702V	ENSP00000355155:G702V	G	-	2	0	GRIN3A	103472410	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.773000	0.85462	2.714000	0.92807	0.580000	0.79431	GGT		0.473	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104432589	C	A	104432589	3	1	51	1	0	0	0	0	1	0	0	0	6783	507	18	5	1270	5	GRIN3A	9	104432589	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10		104432589	36780842	66	5135											
EPB41L4B	54566	mdanderson.org	37	chr9	112015799	112015799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttcttcgtaacctggAgccatgtgtagcttgatatt	7	15	11	8	1	1	1	0	1	1	0	2	2	1	2	2	2	3	5	2	2	3	7			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:112015799A>G	ENST00000374566.3	-	12	1718	c.1201T>C	c.(1201-1203)Tcc>Ccc	p.S401P	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S401P	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	401					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTAACCTGGAGCCATGTGTA	0.408																																						.											0													154	160	158					9																	112015799		1894	4125	6019	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1201T>C	9.37:g.112015799A>G	ENSP00000363694:p.Ser401Pro		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416937	0.42918	.	.	ENSG00000095203	ENST00000262536;ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.88741	-2.42;-2.42	5.26	-3.23	0.05109	FERM adjacent (FA) (1);	0.623793	0.13393	N	0.391269	D	0.84511	0.5488	L	0.45581	1.43	0.23787	N	0.996842	B;P	0.34562	0.307;0.457	B;B	0.41412	0.132;0.356	T	0.76713	-0.2858	10	0.66056	D	0.02	.	7.251	0.26150	0.5718:0.2369:0.0:0.1913	.	401;401	Q9H329-2;Q9H329	.;E41LB_HUMAN	P	86;401;401;323	ENSP00000363694:S401P;ENSP00000363685:S401P	ENSP00000262536:S86P	S	-	1	0	EPB41L4B	111055620	0.042000	0.20092	0.079000	0.20413	0.971000	0.66376	0.089000	0.15002	-0.902000	0.03886	-1.508000	0.00951	TCC		0.408	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		G	112015799	A	G	112015799	3	3	51	1	0	0	0	0	1	0	0	0	5156	304	11	2	1713	2	EPB41L4B	9	112015799	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	7583210	112015799	29197632	67	5136											
C9orf152	401546	mdanderson.org	37	chr9	112963527	112963527	+	Missense_Mutation	SNP	T	T	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	agatcccacaagcttgccccTatgatgtacttgatgactgg	10	11	9	11	0	0	4	0	3	0	1	1	4	1	4	3	1	3	2	3	1	3	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:112963527T>C	ENST00000400613.4	-	2	1030	c.421A>G	c.(421-423)Agg>Ggg	p.R141G	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	141										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGCTTGCCCCTATGATGTACT	0.537																																						.											0													184	169	174					9																	112963527		2203	4300	6503	SO:0001583	missense	401546			BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.421A>G	9.37:g.112963527T>C	ENSP00000383456:p.Arg141Gly		A8MWT6	Missense_Mutation	SNP	ENST00000400613.4	37	CCDS35102.2	.	.	.	.	.	.	.	.	.	.	T	10.77	1.444469	0.25987	.	.	ENSG00000188959	ENST00000400613	.	.	.	4.53	0.742	0.18341	.	0.457912	0.20100	N	0.099247	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.24155	0.051	T	0.13388	-1.0511	9	0.54805	T	0.06	-7.2526	4.2112	0.10512	0.0:0.184:0.3508:0.4652	.	141	Q5JTZ5	CI152_HUMAN	G	141	.	ENSP00000383456:R141G	R	-	1	2	C9orf152	112003348	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.794000	0.26958	0.112000	0.17975	-0.250000	0.11733	AGG		0.537	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		C	112963527	T	C	112963527	3	2	51	1	0	0	0	0	1	0	0	0	2463	1521	53	2	302	2	C9orf152	9	112963527	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	947728	112963527	28249904	68	5137											
DNM1	1759	bcgsc.ca	37	chr9	130984588	130984588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaacttccgccctgatgAcccagctcgcaagaccaagg	12	5	9	15	2	0	4	0	2	0	2	2	4	1	4	4	1	2	2	4	1	4	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:130984588A>G	ENST00000372923.3	+	7	1054	c.962A>G	c.(961-963)gAc>gGc	p.D321G	DNM1_ENST00000475805.1_Missense_Mutation_p.D321G|DNM1_ENST00000486160.1_Missense_Mutation_p.D321G|DNM1_ENST00000393594.3_Missense_Mutation_p.D321G|DNM1_ENST00000341179.7_Missense_Mutation_p.D321G	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	321					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						CGCCCTGATGACCCAGCTCGC	0.622																																					GBM(113;146 1575 2722 28670 29921)	.											0													69	66	67					9																	130984588		2203	4300	6503	SO:0001583	missense	1759			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.962A>G	9.37:g.130984588A>G	ENSP00000362014:p.Asp321Gly		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293179	0.80914	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.93	5.93	0.95920	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.64080	1.96	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.81473	-0.0917	10	0.27082	T	0.32	-4.3692	16.3817	0.83467	1.0:0.0:0.0:0.0	.	321;321;321	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	G	321;321;321;316;321;321	ENSP00000419225:D321G;ENSP00000345680:D321G;ENSP00000362014:D321G;ENSP00000377219:D321G;ENSP00000420045:D321G	ENSP00000345680:D321G	D	+	2	0	DNM1	130024409	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.339000	0.96797	2.276000	0.75962	0.454000	0.30748	GAC		0.622	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		G	130984588	A	G	130984588	3	3	51	1	0	0	0	0	1	0	0	0	4670	275	10	2	988	2	DNM1	9	130984588	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	18021061	130984588	10228843	69	5138											
KCNT1	57582	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	138641963	138641963	+	Missense_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	gggtccaggtggagttctacGtcaacgagaacaccttcaag	11	8	12	10	2	3	1	2	0	1	1	4	3	4	2	2	3	3	1	2	3	4	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:138641963G>A	ENST00000263604.3	+	3	217	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V92I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	73					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)		GGAGTTCTACGTCAACGAGAA	0.607																																						.											0													82	68	73					9																	138641963		2203	4300	6503	SO:0001583	missense	57582			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.217G>A	9.37:g.138641963G>A	ENSP00000263604:p.Val73Ile		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	g	22.2	4.255822	0.80135	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.50548	1.75;1.66;1.66;0.74;1.72	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.59622	0.2207	M	0.72353	2.195	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.53006	0.522;0.715	T	0.66630	-0.5875	10	0.59425	D	0.04	-9.5267	15.8483	0.78907	0.0:0.0:1.0:0.0	.	92;44	B9EGP2;G5E9V0	.;.	I	44;92;92;39;53;59;73;73;73	ENSP00000417851:V44I;ENSP00000298480:V92I;ENSP00000360822:V92I;ENSP00000420764:V39I;ENSP00000263604:V73I	ENSP00000263604:V73I	V	+	1	0	KCNT1	137781784	1.000000	0.71417	0.951000	0.38953	0.904000	0.53231	9.449000	0.97603	2.053000	0.61076	0.561000	0.74099	GTC		0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138641963	G	A	138641963	3	1	51	1	0	0	0	0	1	0	0	0	8091	1145	40	1	284	1	KCNT1	9	138641963	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	7657375	138641963	2571468	70	5139											
TUBB8	347688	mdanderson.org	37	chr10	94011	94011	+	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	tccatcagctccgcgccttcGgtgtagtgtcccttggccca	4	11	10	16	3	1	0	1	0	0	0	5	0	4	0	5	2	1	2	5	2	1	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:94011G>T	ENST00000309812.4	-	4	383	c.321C>A	c.(319-321)acC>acA	p.T107T	TUBB8_ENST00000447903.2_Silent_p.T35T|TUBB8_ENST00000332708.5_Missense_Mutation_p.P71Q|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	107					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)		CCGCGCCTTCGGTGTAGTGTC	0.597																																					Pancreas(192;2041 3010 9013 18103)	.											0													75	63	67					10																	94011		2203	4300	6503	SO:0001819	synonymous_variant	347688			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.321C>A	10.37:g.94011G>T			Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	T	2.327	-0.354190	0.05173	.	.	ENSG00000173876	ENST00000309812;ENST00000332708	.	.	.	.	.	.	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56920	-0.7899	4	0.87932	D	0	.	4.0636	0.09849	0.0:1.0E-4:0.3593:0.6406	.	.	.	.	Q	115;71	.	ENSP00000311042:P115Q	P	-	2	0	RP11-631M21.2	84011	0.004000	0.15560	0.255000	0.24374	0.259000	0.26198	-3.168000	0.00574	-2.119000	0.00827	-2.245000	0.00285	CCG		0.597	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	94011	G	T	94011	2	4	51	1	0	0	0	0	0	0	0	1	16758	1103	39	5		5	TUBB8	10	94011	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10		94011	135440736	71	5140											
HNRNPF	3185	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	43882268	43882268	+	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	ttcaagaagagttctatataTctgtgctgcatattggccct	10	15	8	8	0	3	2	1	0	2	2	3	2	3	2	1	1	2	3	1	1	6	7			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:43882268T>A	ENST00000544000.1	-	4	1472	c.1065A>T	c.(1063-1065)agA>agT	p.R355S	HNRNPF_ENST00000356053.3_Missense_Mutation_p.R355S|HNRNPF_ENST00000337970.3_Missense_Mutation_p.R355S|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Missense_Mutation_p.R355S|HNRNPF_ENST00000357065.4_Missense_Mutation_p.R355S	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	355	Interaction with RNA.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTATATATCTGTGCTGCA	0.517																																						.											0													111	113	112					10																	43882268		2203	4300	6503	SO:0001583	missense	3185				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.1065A>T	10.37:g.43882268T>A	ENSP00000438061:p.Arg355Ser		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368200	0.42003	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.38	3.22	0.36961	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	M	0.76838	2.35	0.58432	D	0.999999	P	0.44380	0.834	P	0.58520	0.84	T	0.02942	-1.1091	10	0.62326	D	0.03	-30.795	9.5933	0.39559	0.0:0.0:0.1767:0.8233	.	355	P52597	HNRPF_HUMAN	S	355;355;355;355;355;278	ENSP00000438061:R355S;ENSP00000400433:R355S;ENSP00000348345:R355S;ENSP00000349573:R355S;ENSP00000338477:R355S	ENSP00000338477:R355S	R	-	3	2	HNRNPF	43202274	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.986000	0.29590	0.979000	0.38497	0.533000	0.62120	AGA		0.517	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			A	43882268	T	A	43882268	3	1	51	1	0	0	0	0	1	0	0	0	7265	1432	50	5	186	5	HNRNPF	10	43882268	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	43788257	43882268	91652479	72	5141											
ANK3	288	mdanderson.org	37	chr10	61815749	61815749	+	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	tttgcttcaaatttgccagcTtctcctttgagatatgaggt	8	17	8	8	0	2	2	1	2	1	1	3	3	2	2	2	1	3	2	2	1	2	6			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:61815749T>C	ENST00000280772.2	-	42	12923	c.12732A>G	c.(12730-12732)gaA>gaG	p.E4244E	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000373827.2_Silent_p.E1728E|ANK3_ENST00000503366.1_Silent_p.E1735E|ANK3_ENST00000355288.2_Silent_p.E868E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4244					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						ATTTGCCAGCTTCTCCTTTGA	0.383																																						.											0													87	86	86					10																	61815749		2203	4300	6503	SO:0001819	synonymous_variant	288			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.12732A>G	10.37:g.61815749T>C			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.383	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61815749	T	C	61815749	2	2	51	1	0	0	0	0	0	0	0	1	622	1606	56	2		2	ANK3	10	61815749	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	17933481	61815749	73718998	73	5142											
NDST2	8509	broad.mit.edu	37	chr10	75563396	75563397	+	Frame_Shift_Ins	INS	-	-	G																															gatgatcttggctcgtggcaINSggagggcagccccccgccgt																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:75563396_75563397insG	ENST00000309979.6	-	11	2633_2634	c.2077_2078insC	c.(2077-2079)ctgfs	p.L693fs	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Frame_Shift_Ins_p.L693fs|NDST2_ENST00000299641.4_Frame_Shift_Ins_p.L570fs			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	693	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGCTCGTGGCAGGAGGGCAGCC	0.535																																						.											0																																										SO:0001589	frameshift_variant	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2078dupC	10.37:g.75563398_75563398dupG	ENSP00000310657:p.Leu693fs		Q2TB32|Q59H89	Frame_Shift_Ins	INS	ENST00000309979.6	37	CCDS7335.1																																																																																				0.535	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		G	75563397	-	G	75563396	7	5	51	1	0	1	1	0	0	0	0	0	10256	188	7	0	593	0	NDST2	10	75563396	Frame_Shift_Ins	INS	-	TCGA-KN-8436-01A-11D-2310-10	13747647	75563396	59971351	74	5143											
VTI1A	143187	mdanderson.org	37	chr10	114224340	114224340	+	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	tttggaagtccgagagatacCaccccaaagtcgagggatgt	12	8	12	9	2	0	1	0	0	0	1	2	6	1	3	4	2	1	0	4	2	3	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:114224340C>T	ENST00000393077.2	+	3	304	c.188C>T	c.(187-189)cCa>cTa	p.P63L	VTI1A_ENST00000432306.1_Missense_Mutation_p.P63L	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	63					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CGAGAGATACCACCCCAAAGT	0.383			T	TCF7L2	colorectal																																	.		Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													117	108	111					10																	114224340		2203	4300	6503	SO:0001583	missense	143187			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.188C>T	10.37:g.114224340C>T	ENSP00000376792:p.Pro63Leu		A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839934	0.91117	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.62	5.62	0.85841	t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.78456	2.415	0.80722	D	1	P;D	0.59767	0.899;0.986	P;D	0.64144	0.834;0.922	T	0.81154	-0.1062	9	0.66056	D	0.02	-30.1432	19.6486	0.95791	0.0:1.0:0.0:0.0	.	63;63	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	L	63	.	ENSP00000376792:P63L	P	+	2	0	VTI1A	114214330	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.141000	0.77330	2.646000	0.89796	0.591000	0.81541	CCA		0.383	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			T	114224340	C	T	114224340	3	4	51	1	0	0	0	0	1	0	0	0	17232	594	21	4	198	4	VTI1A	10	114224340	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	38660944	114224340	21310407	75	5144											
MUC6	4588	mdanderson.org	37	chr11	1016738	1016738	+	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	gtagtgatgatgactgtgtgAgtacttggagtcaccaagga	11	11	14	5	0	1	4	1	4	0	0	1	6	1	6	1	2	1	2	1	2	3	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:1016738A>T	ENST00000421673.2	-	31	6113	c.6063T>A	c.(6061-6063)acT>acA	p.T2021T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2021	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)		TGACTGTGTGAGTACTTGGAG	0.552																																						.											0													703	637	659					11																	1016738		2202	4294	6496	SO:0001819	synonymous_variant	4588			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.6063T>A	11.37:g.1016738A>T			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		T	1016738	A	T	1016738	2	4	51	1	0	0	0	0	0	0	0	1	9980	291	11	5		5	MUC6	11	1016738	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10		1016738	133989778	76	5145			3	41		3	3	730	N	G_A	4.598539e-06
MUC6	4588	bcgsc.ca	37	chr11	1016809	1016809	+	Missense_Mutation	SNP	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	tgtggtctgagggtgtgatgGggttggataggtagtggtgg	5	13	22	1	0	1	2	0	2	1	0	1	3	1	3	0	8	0	2	0	8	2	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:1016809G>T	ENST00000421673.2	-	31	6042	c.5992C>A	c.(5992-5994)Cca>Aca	p.P1998T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1998	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)		GGGTGTGATGGGGTTGGATAG	0.537																																						.											0													1427	1415	1419					11																	1016809		2203	4298	6501	SO:0001583	missense	4588			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.5992C>A	11.37:g.1016809G>T	ENSP00000406861:p.Pro1998Thr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	8.115	0.779667	0.16120	.	.	ENSG00000184956	ENST00000421673	T	0.16743	2.32	2.76	-1.01	0.10169	.	.	.	.	.	T	0.13372	0.0324	M	0.62723	1.935	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.43798	-0.9369	9	0.08381	T	0.77	.	6.0025	0.19529	0.0:0.1776:0.4618:0.3606	.	1998	Q6W4X9	MUC6_HUMAN	T	1998	ENSP00000406861:P1998T	ENSP00000406861:P1998T	P	-	1	0	MUC6	1006809	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.427000	0.06999	0.033000	0.15463	-0.864000	0.03007	CCA		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016809	G	T	1016809	3	4	51	1	0	0	0	0	1	0	0	0	9980	1232	43	5	1339	5	MUC6	11	1016809	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	71	1016809	133989707	77	5146			3	41		3	3	730	N	G_A	4.598539e-06
MUC6	4588	mdanderson.org	37	chr11	1017467	1017467	+	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	gtgtgggccacaggggttctGgtgcctgtactggtgtggtt	3	13	18	7	0	1	0	0	0	1	0	1	0	1	0	2	6	2	3	2	6	1	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:1017467G>T	ENST00000421673.2	-	31	5384	c.5334C>A	c.(5332-5334)acC>acA	p.T1778T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1778	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)		CAGGGGTTCTGGTGCCTGTAC	0.582																																						.											0													485	485	485					11																	1017467		2202	4293	6495	SO:0001819	synonymous_variant	4588			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.5334C>A	11.37:g.1017467G>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017467	G	T	1017467	2	4	51	1	0	0	0	0	0	0	0	1	9980	1335	47	5		5	MUC6	11	1017467	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	658	1017467	133989049	78	5147			3	41		3	3	730	N	G_A	4.598539e-06
CTSF	8722	broad.mit.edu;mdanderson.org	37	chr11	66335107	66335107	+	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	agcagcacgtgtcttccgagCtcatccaggacttggaagct	9	9	11	12	2	2	0	1	0	1	0	4	3	4	2	2	2	4	4	2	2	1	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:66335107C>T	ENST00000310325.5	-	3	448	c.339G>A	c.(337-339)gaG>gaA	p.E113E	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCTTCCGAGCTCATCCAGGA	0.612																																						.											0													69	71	71					11																	66335107		2200	4295	6495	SO:0001819	synonymous_variant	8722			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.339G>A	11.37:g.66335107C>T			B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.612	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		T	66335107	C	T	66335107	2	4	51	1	0	0	0	0	0	0	0	1	4034	796	28	4		4	CTSF	11	66335107	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	65317640	66335107	68671409	79	5148											
RAD52	5893	mdanderson.org	37	chr12	1023070	1023070	+	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	tctctgctacctgttgtgcgTtggtcagcgctataagtttg	5	16	11	9	2	2	0	1	0	1	0	3	0	2	0	1	1	4	5	1	1	3	6	rs373361304		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:1023070T>C	ENST00000358495.3	-	11	1323	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Silent_p.Q318Q|RAD52_ENST00000430095.2_Silent_p.Q395Q	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	395					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)			CTGTTGTGCGTTGGTCAGCGC	0.448								Homologous recombination																														.											0								T		1,3895		0,1,1947	162	143	149		1185	-0.1	0	12		149	0,8312		0,0,4156	no	coding-synonymous	RAD52	NM_134424.2		0,1,6103	CC,CT,TT		0.0,0.0257,0.0082		395/419	1023070	1,12207	1948	4156	6104	SO:0001819	synonymous_variant	5893				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.1185A>G	12.37:g.1023070T>C			Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	CCDS8507.2																																																																																				0.448	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		C	1023070	T	C	1023070	2	2	51	1	0	0	0	0	0	0	0	1	12991	1722	60	2		2	RAD52	12	1023070	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10		1023070	132828825	80	5149											
TAS2R43	259289	mdanderson.org	37	chr12	11244591	11244591	+	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	attataagcagtagttcttaCttctacactattaaaagctg	14	15	5	7	0	2	0	0	0	2	0	2	0	2	0	0	0	4	4	0	0	8	9	rs73064968	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:11244591C>A	ENST00000531678.1	-	1	321	c.238G>T	c.(238-240)Gta>Tta	p.V80L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	80					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)		GTAGTTCTTACTTCTACACTA	0.388																																						.											0													51	44	46					12																	11244591		1913	3938	5851	SO:0001583	missense	259289			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.238G>T	12.37:g.11244591C>A	ENSP00000431719:p.Val80Leu		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	1.743	-0.491269	0.04322	.	.	ENSG00000255374	ENST00000531678	T	0.33654	1.4	1.97	-0.554	0.11811	.	.	.	.	.	T	0.21962	0.0529	L	0.35542	1.07	0.80722	P	0.0	B	0.12630	0.006	B	0.17722	0.019	T	0.24941	-1.0146	8	0.27082	T	0.32	.	3.9175	0.09230	0.272:0.4604:0.2677:0.0	.	80	P59537	T2R43_HUMAN	L	80	ENSP00000431719:V80L	ENSP00000431719:V80L	V	-	1	0	TAS2R43	11135858	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.905000	0.04075	-0.319000	0.08652	0.184000	0.17185	GTA		0.388	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244591	C	A	11244591	3	1	51	1	0	0	0	0	1	0	0	0	15578	565	20	5	695	5	TAS2R43	12	11244591	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	10221521	11244591	122607304	81	5150											
GPRC5A	9052	mdanderson.org	37	chr12	13061805	13061805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccttcacgggctggaagAgacatggggcccacatctac	9	8	12	12	1	2	1	1	0	1	1	3	3	3	2	2	4	1	2	2	4	2	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:13061805A>G	ENST00000014914.5	+	2	1512	c.622A>G	c.(622-624)Aga>Gga	p.R208G	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	208					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGCTGGAAGAGACATGGGGC	0.562																																						.											0													227	202	210					12																	13061805		2203	4300	6503	SO:0001583	missense	9052			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.622A>G	12.37:g.13061805A>G	ENSP00000014914:p.Arg208Gly		B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597318	0.66332	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.88586	-2.4;-2.4	5.42	4.31	0.51392	GPCR, family 3, C-terminal (1);	0.130764	0.50627	D	0.000102	D	0.91496	0.7315	M	0.72894	2.215	0.46437	D	0.999044	D;D	0.54772	0.968;0.968	P;P	0.55303	0.773;0.628	D	0.91580	0.5278	10	0.48119	T	0.1	-20.2389	13.38	0.60762	0.8393:0.1607:0.0:0.0	.	208;208	Q8NFJ5;A8K556	RAI3_HUMAN;.	G	208	ENSP00000014914:R208G;ENSP00000441627:R208G	ENSP00000014914:R208G	R	+	1	2	GPRC5A	12953072	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	2.719000	0.47244	2.079000	0.62486	0.454000	0.30748	AGA		0.562	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			G	13061805	A	G	13061805	3	3	51	1	0	0	0	0	1	0	0	0	6724	296	11	2	624	2	GPRC5A	12	13061805	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	1817214	13061805	120790090	82	5151											
RECQL	5965	broad.mit.edu	37	chr12	21623272	21623272	+	Frame_Shift_Del	DEL	C	C	-																															tcagaatgacaagtttgagaCgattcagcctacaaaaaaaa																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:21623272delC	ENST00000444129.2	-	15	2274	c.1806delG	c.(1804-1806)tcgfs	p.S603fs	PYROXD1_ENST00000538582.1_3'UTR|PYROXD1_ENST00000240651.9_3'UTR|RECQL_ENST00000421138.2_Frame_Shift_Del_p.S603fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	603					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGTTTGAGACGATTCAGCCT	0.333								Other identified genes with known or suspected DNA repair function																														.											0													16	15	15					12																	21623272		2171	4280	6451	SO:0001589	frameshift_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1806delG	12.37:g.21623272delC	ENSP00000416739:p.Ser603fs		A8K6G2	Frame_Shift_Del	DEL	ENST00000444129.2	37	CCDS31756.1																																																																																				0.333	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		-	21623272	C	-	21623272	7	5	51	1	0	1	0	1	0	0	0	0	13201	523	19	0	147	0	RECQL	12	21623272	Frame_Shift_Del	DEL	C	TCGA-KN-8436-01A-11D-2310-10	8561467	21623272	112228623	83	5152											
DENND5B	160518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	31540710	31540710	+	Missense_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	caatggaatccactgtgggaGcaggcgatccctacagaccc	11	6	11	13	1	0	1	0	0	0	1	2	4	2	3	3	3	2	1	3	3	3	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:31540710G>A	ENST00000389082.5	-	21	3916	c.3652C>T	c.(3652-3654)Ctc>Ttc	p.L1218F	DENND5B_ENST00000306833.6_Missense_Mutation_p.L1253F|DENND5B_ENST00000536562.1_Missense_Mutation_p.L1253F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1218	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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						CACTGTGGGAGCAGGCGATCC	0.517																																						.											0													74	71	72					12																	31540710		2034	4187	6221	SO:0001583	missense	160518			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.3652C>T	12.37:g.31540710G>A	ENSP00000373734:p.Leu1218Phe		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147927	0.78001	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.68025	-0.3;-0.3;-0.3	5.29	5.29	0.74685	RUN (3);	0.000000	0.64402	D	0.000005	D	0.83408	0.5248	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85166	0.0995	10	0.87932	D	0	-37.8866	19.1165	0.93343	0.0:0.0:1.0:0.0	.	1218;1253	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	F	1218;1253;1253	ENSP00000373734:L1218F;ENSP00000306482:L1253F;ENSP00000444889:L1253F	ENSP00000306482:L1253F	L	-	1	0	DENND5B	31431977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.173000	0.65010	2.761000	0.94854	0.655000	0.94253	CTC		0.517	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		A	31540710	G	A	31540710	3	1	51	1	0	0	0	0	1	0	0	0	4437	971	34	4	176	4	DENND5B	12	31540710	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	9917438	31540710	102311185	84	5153											
C12orf35	55196	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr12	32136955	32136955	+	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	attcaggaggatatttacccTcaggaaatagatgcatccag	14	10	9	8	0	2	1	2	0	0	1	3	4	3	4	2	3	2	1	2	3	4	5			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:32136955T>A	ENST00000312561.4	+	4	3480	c.3066T>A	c.(3064-3066)ccT>ccA	p.P1022P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1022																	ATATTTACCCTCAGGAAATAG	0.433																																						.											0													72	68	69					12																	32136955		2203	4299	6502	SO:0001819	synonymous_variant	55196			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.3066T>A	12.37:g.32136955T>A			B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																				0.433	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		A	32136955	T	A	32136955	2	1	51	1	0	0	0	0	0	0	0	1	1682	1538	54	5		5	C12orf35	12	32136955	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	596245	32136955	101714940	85	5154											
KRT6C	286887	mdanderson.org	37	chr12	52867105	52867105	+	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	gtcaggagactctggttgacGgtgacctcttggatgcctcc	6	11	13	11	1	3	3	1	2	2	1	4	5	4	4	3	4	1	1	3	4	0	2	rs1053684		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:52867105G>A	ENST00000252250.6	-	1	464	c.417C>T	c.(415-417)acC>acT	p.T139T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	139	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TCTGGTTGACGGTGACCTCTT	0.637																																						.											0													51	34	41					12																	52867105		2149	3730	5879	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.417C>T	12.37:g.52867105G>A			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.637	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		A	52867105	G	A	52867105	2	1	51	1	0	0	0	0	0	0	0	1	8482	1103	39	1		1	KRT6C	12	52867105	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	20730150	52867105	80984790	86	5155											
KRT6A	3853	mdanderson.org	37	chr12	52886556	52886556	+	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	gtcaggagactctggttgacGgtgacctcttggatgcctcc	6	11	13	11	1	3	3	1	2	2	1	4	5	4	4	3	4	1	1	3	4	0	2	rs1707768		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:52886556G>A	ENST00000330722.6	-	1	485	c.417C>T	c.(415-417)acC>acT	p.T139T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	139	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)		TCTGGTTGACGGTGACCTCTT	0.622																																						.											0													109	105	106					12																	52886556		2203	4300	6503	SO:0001819	synonymous_variant	3853			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.417C>T	12.37:g.52886556G>A			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.622	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		A	52886556	G	A	52886556	2	1	51	1	0	0	0	0	0	0	0	1	8480	1103	39	1		1	KRT6A	12	52886556	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	19451	52886556	80965339	87	5156											
KRT76	51350	mdanderson.org	37	chr12	53165930	53165930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctctgggcaatctccTcatactgggcgcggacctcg	5	10	11	15	3	3	0	1	0	2	0	6	1	4	1	3	3	2	2	3	3	2	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:53165930T>C	ENST00000332411.2	-	5	1138	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	362	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCAATCTCCTCATACTGGGC	0.567																																						.											0													93	81	85					12																	53165930		2203	4300	6503	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1085A>G	12.37:g.53165930T>C	ENSP00000330101:p.Glu362Gly		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375478	0.61735	.	.	ENSG00000185069	ENST00000332411	D	0.93133	-3.17	4.42	4.42	0.53409	Filament (1);	0.000000	0.44688	D	0.000427	D	0.97736	0.9257	H	0.97186	3.955	0.53005	D	0.99996	D	0.89917	1.0	D	0.79108	0.992	D	0.99004	1.0812	10	0.87932	D	0	.	14.3579	0.66750	0.0:0.0:0.0:1.0	.	362	Q01546	K22O_HUMAN	G	362	ENSP00000330101:E362G	ENSP00000330101:E362G	E	-	2	0	KRT76	51452197	1.000000	0.71417	0.969000	0.41365	0.186000	0.23388	8.037000	0.88933	1.942000	0.56320	0.379000	0.24179	GAG		0.567	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		C	53165930	T	C	53165930	3	2	51	1	0	0	0	0	1	0	0	0	8489	1551	54	2	851	2	KRT76	12	53165930	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	279374	53165930	80685965	88	5157											
C12orf64	283310	hgsc.bcm.edu;ucsc.edu	37	chr12	80655788	80655788	+	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	gaaggtacaccacaacttcaCgcaaatgcgtggagagtttc	13	8	10	10	2	1	1	1	0	0	1	2	3	1	1	1	2	3	3	1	2	4	3	rs150597873		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:80655788C>T	ENST00000547103.1	+	18	1908	c.1902C>T	c.(1900-1902)caC>caT	p.H634H	OTOGL_ENST00000458043.2_Silent_p.H634H			Q3ZCN5	OTOGL_HUMAN	otogelin-like	634	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACAACTTCACGCAAATGCGT	0.413													C|||	1	0.000199681	0	0	5008	,	,		15144	0		0	False		,,,				2504	0.001					.											0													137	138	138					12																	80655788		1932	4131	6063	SO:0001819	synonymous_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1902C>T	12.37:g.80655788C>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37																																																																																					0.413	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		T	80655788	C	T	80655788	2	4	51	1	0	0	0	0	0	0	0	1	1707	535	19	1		1	C12orf64	12	80655788	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	27489858	80655788	53196107	89	5158											
ACSS3	79611	broad.mit.edu;mdanderson.org	37	chr12	81503375	81503375	+	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	cttaacatttgttacaatgcCgttgatcgtcatattgaaaa	13	15	6	7	2	1	2	1	2	0	0	2	2	1	2	1	0	3	2	1	0	6	6			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:81503375C>T	ENST00000548058.1	+	2	1258	c.348C>T	c.(346-348)gcC>gcT	p.A116A	ACSS3_ENST00000261206.3_Silent_p.A115A|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	116						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTTACAATGCCGTTGATCGTC	0.328																																						.											0													107	105	105					12																	81503375		2203	4299	6502	SO:0001819	synonymous_variant	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.348C>T	12.37:g.81503375C>T			Q8NC66	Silent	SNP	ENST00000548058.1	37	CCDS9022.1																																																																																				0.328	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		T	81503375	C	T	81503375	2	4	51	1	0	0	0	0	0	0	0	1	190	639	23	1		1	ACSS3	12	81503375	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	847587	81503375	52348520	90	5159											
HVCN1	84329	broad.mit.edu	37	chr12	111099110	111099112	+	In_Frame_Del	DEL	CTC	CTC	-																															actggtgtgggtggtggctgCtcctcctcctcctcctcctc																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:111099110_111099112delCTC	ENST00000356742.5	-	3	916_918	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				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						GTGGTGGCTGctcctcctcctcc	0.606																																						.											0																																										SO:0001651	inframe_deletion	84329			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.163_165delGAG	12.37:g.111099119_111099121delCTC	ENSP00000349181:p.Glu55del		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	In_Frame_Del	DEL	ENST00000356742.5	37	CCDS31900.1																																																																																				0.606	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		-	111099112	CTC	-	111099110	7	5	51	1	0	1	0	1	0	0	0	0	7462	796	28	0	676	0	HVCN1	12	111099110	In_Frame_Del	DEL	CTC	TCGA-KN-8436-01A-11D-2310-10	29595735	111099110	22752785	91	5160											
CCDC64	92558	mdanderson.org	37	chr12	120530940	120530940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgctgaaggcaaacgacTcttctcattcttcaggaaaa	13	10	7	11	2	4	1	2	1	3	0	6	3	4	2	0	2	1	2	0	2	4	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:120530940T>C	ENST00000397558.2	+	9	1697	c.1697T>C	c.(1696-1698)cTc>cCc	p.L566P	CCDC64_ENST00000546857.1_3'UTR|CCDC64_ENST00000446727.2_Missense_Mutation_p.L237P|CCDC64_ENST00000257583.4_Missense_Mutation_p.L263P	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	566					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)					GGCAAACGACTCTTCTCATTC	0.612																																						.											0													27	32	30					12																	120530940		2008	4157	6165	SO:0001583	missense	92558			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.1697T>C	12.37:g.120530940T>C	ENSP00000380690:p.Leu566Pro		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199926	0.79015	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T	0.62364	0.61;0.03	4.9	4.9	0.64082	.	1.075700	0.07390	U	0.888905	T	0.76371	0.3978	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.998	P;D;D	0.69142	0.858;0.962;0.914	T	0.67887	-0.5554	10	0.72032	D	0.01	-0.4316	14.6842	0.69037	0.0:0.0:0.0:1.0	.	263;237;566	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	P	566;237;284;263	ENSP00000380690:L566P;ENSP00000399658:L237P	ENSP00000257583:L263P	L	+	2	0	CCDC64	119015323	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.852000	0.69488	2.054000	0.61138	0.459000	0.35465	CTC		0.612	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		C	120530940	T	C	120530940	3	2	51	1	0	0	0	0	1	0	0	0	2835	1551	54	2	1731	2	CCDC64	12	120530940	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	9431830	120530940	13320955	92	5161											
ZMYM2	7750	mdanderson.org	37	chr13	20579236	20579236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atataactacaatgaaaggaAccattgttgctcaagtggat	16	11	8	6	0	1	1	1	1	0	0	1	3	1	3	1	2	4	2	1	2	7	5			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr13:20579236A>G	ENST00000382874.2	+	6	1346	c.1156A>G	c.(1156-1158)Acc>Gcc	p.T386A	ZMYM2_ENST00000382869.3_Missense_Mutation_p.T386A|ZMYM2_ENST00000382881.3_Missense_Mutation_p.T299A|ZMYM2_ENST00000382883.3_5'Flank|ZMYM2_ENST00000382871.2_Missense_Mutation_p.T386A	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	386					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)		AATGAAAGGAACCATTGTTGC	0.313																																						.											0													89	87	88					13																	20579236		1813	4065	5878	SO:0001583	missense	7750			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.1156A>G	13.37:g.20579236A>G	ENSP00000372327:p.Thr386Ala		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030264	0.75504	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.18338	2.22;2.23;2.22;2.22	5.15	5.15	0.70609	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	L	0.34521	1.04	0.80722	D	1	P;B	0.41498	0.752;0.423	P;B	0.51866	0.682;0.076	T	0.03231	-1.1058	10	0.17832	T	0.49	6.0766	14.9966	0.71436	1.0:0.0:0.0:0.0	.	386;299	Q9UBW7;Q9UBW7-2	ZMYM2_HUMAN;.	A	386;386;299;386;386	ENSP00000372322:T386A;ENSP00000372334:T299A;ENSP00000372327:T386A;ENSP00000372324:T386A	ENSP00000372322:T386A	T	+	1	0	ZMYM2	19477236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	1.928000	0.55862	0.482000	0.46254	ACC		0.313	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		G	20579236	A	G	20579236	3	3	51	1	0	0	0	0	1	0	0	0	17697	43	2	2	1166	2	ZMYM2	13	20579236	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10		20579236	94590642	93	5162											
PABPC3	5042	mdanderson.org	37	chr13	25671925	25671925	+	Missense_Mutation	SNP	T	T	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	acaagttacaatgcaacagcTtgctgttcatgtacaaggtc	13	11	8	9	0	1	0	1	0	0	0	2	0	1	0	0	1	6	6	0	1	6	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr13:25671925T>C	ENST00000281589.3	+	1	1626	c.1589T>C	c.(1588-1590)cTt>cCt	p.L530P		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	530					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)		ATGCAACAGCTTGCTGTTCAT	0.498																																						.											0													95	87	90					13																	25671925		2203	4300	6503	SO:0001583	missense	5042			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.1589T>C	13.37:g.25671925T>C	ENSP00000281589:p.Leu530Pro		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.288930	0.00248	.	.	ENSG00000151846	ENST00000281589	T	0.38077	1.16	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.135210	0.32190	N	0.006446	T	0.05181	0.0138	N	0.00095	-2.16	0.31136	N	0.707216	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	10	0.02654	T	1	.	5.2647	0.15593	0.0:0.7663:0.0:0.2337	.	530	Q9H361	PABP3_HUMAN	P	530	ENSP00000281589:L530P	ENSP00000281589:L530P	L	+	2	0	PABPC3	24569925	1.000000	0.71417	0.979000	0.43373	0.086000	0.17979	2.056000	0.41355	-0.049000	0.13379	-0.642000	0.03964	CTT		0.498	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		C	25671925	T	C	25671925	3	2	51	1	0	0	0	0	1	0	0	0	11365	1609	56	2	1591	2	PABPC3	13	25671925	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	5092689	25671925	89497953	94	5163											
ALG11	440138	mdanderson.org;bcgsc.ca	37	chr13	52586578	52586578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggccggcgaaaggagctgGtgcctgtgcaagttgttgag	7	8	18	8	3	0	1	0	1	0	0	0	3	0	2	2	4	3	4	2	4	2	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr13:52586578G>T	ENST00000521508.1	+	1	29	c.24G>T	c.(22-24)tgG>tgT	p.W8C	ALG11_ENST00000523764.1_Missense_Mutation_p.W8C|ATP7B_ENST00000418097.2_5'Flank|ATP7B_ENST00000400366.3_5'Flank|ATP7B_ENST00000242839.4_5'Flank|ATP7B_ENST00000400370.3_5'Flank|ATP7B_ENST00000344297.5_5'Flank|ATP7B_ENST00000448424.2_5'Flank	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	8					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 (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		AAAGGAGCTGGTGCCTGTGCA	0.562																																						.											0													88	82	84					13																	52586578		2203	4300	6503	SO:0001583	missense	440138			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.24G>T	13.37:g.52586578G>T	ENSP00000430236:p.Trp8Cys		A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	G	6.786	0.513952	0.12944	.	.	ENSG00000253710	ENST00000523764;ENST00000521508	T;T	0.76316	0.67;-1.01	5.1	5.1	0.69264	.	0.645519	0.13472	U	0.385360	T	0.73969	0.3655	L	0.44542	1.39	0.41399	D	0.987666	P	0.51653	0.947	B	0.43360	0.417	T	0.76849	-0.2807	10	0.72032	D	0.01	.	14.2046	0.65725	0.0:0.0:1.0:0.0	.	8	Q2TAA5	ALG11_HUMAN	C	8	ENSP00000429497:W8C;ENSP00000430236:W8C	ENSP00000430236:W8C	W	+	3	0	ALG11	51484579	0.967000	0.33354	0.839000	0.33178	0.006000	0.05464	2.613000	0.46351	2.818000	0.97014	0.591000	0.81541	TGG		0.562	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		T	52586578	G	T	52586578	3	4	51	1	0	0	0	0	1	0	0	0	513	1270	44	5	26	5	ALG11	13	52586578	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	26914653	52586578	62583300	95	5164											
TGM1	7051	mdanderson.org	37	chr14	24730943	24730943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcagaggattcataggTccgggacaggaggaggagca	12	5	17	7	2	2	1	2	0	0	1	3	7	3	6	1	6	1	1	1	6	1	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr14:24730943T>C	ENST00000206765.6	-	3	589	c.466A>G	c.(466-468)Acc>Gcc	p.T156A	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	156					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)	GATTCATAGGTCCGGGACAGG	0.587																																						.											0													130	115	120					14																	24730943		2203	4300	6503	SO:0001583	missense	7051			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.466A>G	14.37:g.24730943T>C	ENSP00000206765:p.Thr156Ala		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.285567	0.23478	.	.	ENSG00000092295	ENST00000206765	D	0.85484	-1.99	5.09	-0.61	0.11604	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.496526	0.22150	N	0.063938	T	0.54581	0.1867	N	0.00661	-1.28	0.48185	D	0.999601	B	0.02656	0.0	B	0.01281	0.0	T	0.20571	-1.0271	10	0.33940	T	0.23	-0.5356	6.6344	0.22875	0.0767:0.467:0.3411:0.1152	.	156	P22735	TGM1_HUMAN	A	156	ENSP00000206765:T156A	ENSP00000206765:T156A	T	-	1	0	TGM1	23800783	0.944000	0.32072	0.008000	0.14137	0.592000	0.36648	1.180000	0.32005	-0.465000	0.06953	-0.648000	0.03929	ACC		0.587	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		C	24730943	T	C	24730943	3	2	51	1	0	0	0	0	1	0	0	0	15826	1667	58	2	2039	2	TGM1	14	24730943	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10		24730943	82618597	96	5165											
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr14	51196406	51196406	+	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	aaatcccaagcatgaggggaCgggctaggcgtcgcagtgga	11	5	16	9	3	0	1	0	1	0	0	2	3	1	3	1	5	1	3	1	5	3	1	rs145555295		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr14:51196406C>T	ENST00000382041.3	-	29	6103	c.5913G>A	c.(5911-5913)ccG>ccA	p.P1971P	NIN_ENST00000324330.9_3'UTR|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000530997.2_Silent_p.P1971P|NIN_ENST00000245441.5_Silent_p.P1971P|NIN_ENST00000382043.4_Silent_p.P1258P|NIN_ENST00000453196.1_Silent_p.P1971P	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1971					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)					CATGAGGGGACGGGCTAGGCG	0.597			T	PDGFRB	MPD								C|||	1	0.000199681	0	0.0014	5008	,	,		14363	0		0	False		,,,				2504	0					.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								C	,,,	0,4406		0,0,2203	69	58	62		3774,5913,5913,5913	-10.5	0	14	dbSNP_134	62	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	,,,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,,,	1258/1378,1971/2134,1971/2047,1971/2091	51196406	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	51199			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.5913G>A	14.37:g.51196406C>T			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.070	-1.205154	0.01568	0.0	5.81E-4	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.23	-10.5	0.00291	.	.	.	.	.	T	0.20577	0.0495	.	.	.	0.26831	N	0.968587	.	.	.	.	.	.	T	0.08764	-1.0706	4	.	.	.	-13.8346	5.2917	0.15731	0.1504:0.4781:0.1573:0.2142	.	.	.	.	I	1462	.	.	V	-	1	0	NIN	50266156	0.000000	0.05858	0.016000	0.15963	0.049000	0.14656	-3.635000	0.00408	-3.021000	0.00269	-1.801000	0.00618	GTC		0.597	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51196406	C	T	51196406	2	4	51	1	0	0	0	0	0	0	0	1	10417	523	19	1		1	NIN	14	51196406	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	26465463	51196406	56153134	97	5166											
TECPR2	9895	mdanderson.org	37	chr14	102881076	102881076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctgcaaagaagtctgcTcttttacactgaagaaaagt	14	12	7	8	0	3	3	0	1	3	2	3	3	3	3	0	0	4	2	0	0	7	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr14:102881076T>C	ENST00000359520.7	+	5	810	c.584T>C	c.(583-585)cTc>cCc	p.L195P	TECPR2_ENST00000558678.1_Missense_Mutation_p.L195P|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	195					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						AGAAGTCTGCTCTTTTACACT	0.458																																						.											0													150	141	144					14																	102881076		2203	4300	6503	SO:0001583	missense	9895			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.584T>C	14.37:g.102881076T>C	ENSP00000352510:p.Leu195Pro		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117267	0.77323	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01397	4.94	4.89	4.89	0.63831	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09423	0.0232	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.991;0.999	T	0.00695	-1.1606	10	0.87932	D	0	.	14.5137	0.67804	0.0:0.0:0.0:1.0	.	195;195;195	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	P	195	ENSP00000352510:L195P	ENSP00000352510:L195P	L	+	2	0	TECPR2	101950829	1.000000	0.71417	0.959000	0.39883	0.925000	0.55904	7.602000	0.82796	1.825000	0.53177	0.459000	0.35465	CTC		0.458	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		C	102881076	T	C	102881076	3	2	51	1	0	0	0	0	1	0	0	0	15741	1551	54	2	598	2	TECPR2	14	102881076	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	51684670	102881076	4468464	98	5167											
MYO5C	55930	mdanderson.org	37	chr15	52510728	52510728	+	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	cttctcaccctgttttccaaAgtgagccgggatgcttcctg	6	13	9	13	1	1	1	1	1	1	0	4	2	3	2	4	1	2	2	4	1	1	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr15:52510728A>G	ENST00000261839.7	-	32	4103	c.3942T>C	c.(3940-3942)acT>acC	p.T1314T		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1314						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGTTTTCCAAAGTGAGCCGGG	0.443																																						.											0													78	74	75					15																	52510728		1902	4118	6020	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3942T>C	15.37:g.52510728A>G			Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.443	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		G	52510728	A	G	52510728	2	3	51	1	0	0	0	0	0	0	0	1	10080	59	3	2		2	MYO5C	15	52510728	Silent	SNP	A	TCGA-KN-8436-01A-11D-2310-10		52510728	50020664	99	5168											
UNC13C	440279	broad.mit.edu	37	chr15	54527276	54527276	+	Frame_Shift_Del	DEL	A	A	-																															agcatgccggatcttcgcagAaaaaaaactttgcctattgt																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr15:54527276delA	ENST00000260323.11	+	4	3120	c.3120delA	c.(3118-3120)agafs	p.R1040fs	UNC13C_ENST00000545554.1_Frame_Shift_Del_p.R1040fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.R1040fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1040					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)		ATCTTCGCAGAAAAAAAACTT	0.368																																						.											0													142	133	136					15																	54527276		1849	4096	5945	SO:0001589	frameshift_variant	440279			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.3120delA	15.37:g.54527276delA	ENSP00000260323:p.Arg1040fs		Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	CCDS45264.1																																																																																				0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		-	54527276	A	-	54527276	7	5	51	1	0	1	0	1	0	0	0	0	16983	243	9	0	3134	0	UNC13C	15	54527276	Frame_Shift_Del	DEL	A	TCGA-KN-8436-01A-11D-2310-10	2016548	54527276	48004116	100	5169											
AQP9	366	mdanderson.org	37	chr15	58458901	58458901	+	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	tgtggctgtgttgcccaagcTattctcagtcgaggacgttt	6	14	12	9	2	1	0	1	0	1	0	3	2	1	1	1	2	2	4	1	2	2	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr15:58458901T>C	ENST00000219919.4	+	2	511	c.141T>C	c.(139-141)gcT>gcC	p.A47A	AQP9_ENST00000558772.1_5'UTR|AQP9_ENST00000536493.1_Silent_p.A47A|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	47					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTGCCCAAGCTATTCTCAGTC	0.473																																						.											0													254	226	236					15																	58458901		2192	4292	6484	SO:0001819	synonymous_variant	366			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.141T>C	15.37:g.58458901T>C			Q9NP32	Silent	SNP	ENST00000219919.4	37	CCDS10165.1																																																																																				0.473	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		C	58458901	T	C	58458901	2	2	51	1	0	0	0	0	0	0	0	1	833	1509	53	2		2	AQP9	15	58458901	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	3931625	58458901	44072491	101	5170											
ERCC4	2072	broad.mit.edu	37	chr16	14041910	14041911	+	Frame_Shift_Ins	INS	-	-	A																															ttgaggagctgaaacaaagcINSaagccacagcctgatgcggc																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:14041910_14041911insA	ENST00000311895.7	+	11	2466_2467	c.2457_2458insA	c.(2458-2460)aagfs	p.K820fs		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	820					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TGAAACAAAGCAAGCCACAGCC	0.515			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													.	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0																																										SO:0001589	frameshift_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2459dupA	16.37:g.14041912_14041912dupA	ENSP00000310520:p.Lys820fs		A5PKV6|A8K111|O00140|Q8TD83	Frame_Shift_Ins	INS	ENST00000311895.7	37	CCDS32390.1																																																																																				0.515	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		A	14041911	-	A	14041910	7	5	51	1	0	1	1	0	0	0	0	0	5215	709	25	0	2499	0	ERCC4	16	14041910	Frame_Shift_Ins	INS	-	TCGA-KN-8436-01A-11D-2310-10		14041910	76312843	102	5171											
ABCC6	368	broad.mit.edu	37	chr16	16278826	16278827	+	Frame_Shift_Ins	INS	-	-	G																															gttctgtacctgtggaggcaINSgggagggctttcctgggacc																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:16278826_16278827insG	ENST00000205557.7	-	15	1961_1962	c.1932_1933insC	c.(1930-1935)ccctgcfs	p.C645fs	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	645	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	CTGTGGAGGCAGGGAGGGCTTT	0.579																																						.											0																																										SO:0001589	frameshift_variant	368			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.1933dupC	16.37:g.16278829_16278829dupG	ENSP00000205557:p.Cys645fs		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Frame_Shift_Ins	INS	ENST00000205557.7	37	CCDS10568.1																																																																																				0.579	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			G	16278827	-	G	16278826	7	5	51	1	0	1	1	0	0	0	0	0	57	188	7	0	2646	0	ABCC6	16	16278826	Frame_Shift_Ins	INS	-	TCGA-KN-8436-01A-11D-2310-10	2236916	16278826	74075927	103	5172											
HSD11B2	3291	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr16	67470735	67470735	+	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	ggcctggggctcatgtacttCatccactactacctgcctga	7	11	9	14	0	2	1	2	1	0	0	3	1	3	1	4	3	4	2	4	3	3	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:67470735C>A	ENST00000326152.5	+	5	1179	c.1047C>A	c.(1045-1047)ttC>ttA	p.F349L	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	349					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		TCATGTACTTCATCCACTACT	0.647																																						.											0													69	76	73					16																	67470735		2198	4299	6497	SO:0001583	missense	3291			U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5209	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 3"	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.1047C>A	16.37:g.67470735C>A	ENSP00000316786:p.Phe349Leu		A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	ENST00000326152.5	37	CCDS10837.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103821	0.56291	.	.	ENSG00000176387	ENST00000326152	D	0.89270	-2.49	4.78	3.82	0.43975	NAD(P)-binding domain (1);	0.049609	0.85682	D	0.000000	T	0.78272	0.4257	N	0.25992	0.78	0.53688	D	0.999975	B	0.28378	0.209	B	0.25987	0.065	T	0.70506	-0.4853	10	0.02654	T	1	.	11.7105	0.51623	0.0:0.9121:0.0:0.0879	.	349	P80365	DHI2_HUMAN	L	349	ENSP00000316786:F349L	ENSP00000316786:F349L	F	+	3	2	HSD11B2	66028236	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.517000	0.45529	0.995000	0.38917	0.563000	0.77884	TTC		0.647	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		A	67470735	C	A	67470735	3	1	51	1	0	0	0	0	1	0	0	0	7377	825	29	5	1065	5	HSD11B2	16	67470735	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	51191909	67470735	22884018	104	5173											
AMAC1L3	643664	mdanderson.org	37	chr17	7385751	7385751	+	Missense_Mutation	SNP	G	G	A																															ccgtcctcaccctctgccttGagagccagggtctcagtggc																								rs200897540		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr17:7385751G>A	ENST00000412468.2	+	2	563	c.448G>A	c.(448-450)Gag>Aag	p.E150K	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	150	EamA 1.					integral component of membrane (GO:0016021)											CCTCTGCCTTGAGAGCCAGGG	0.592																																						.											0													188	178	182					17																	7385751		2203	4300	6503	SO:0001583	missense	643664				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.448G>A	17.37:g.7385751G>A	ENSP00000396523:p.Glu150Lys			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420492	0.42918	.	.	ENSG00000181222	ENST00000412468	T	0.49432	0.78	4.33	3.36	0.38483	.	.	.	.	.	T	0.32941	0.0846	N	0.24115	0.695	0.29805	N	0.832132	B	0.10296	0.003	B	0.13407	0.009	T	0.23904	-1.0175	9	0.37606	T	0.19	-2.7213	9.5491	0.39299	0.1018:0.0:0.8982:0.0	.	150	P0C7Q6	S35G6_HUMAN	K	150	ENSP00000396523:E150K	ENSP00000396523:E150K	E	+	1	0	SLC35G6	7326475	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	2.253000	0.43205	0.961000	0.38030	0.563000	0.77884	GAG		0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7385751	G	A	7385751	3	1	51	1	0	0	0	0	1	0	0	0	561	1291	45	4	454	4	AMAC1L3	17	7385751	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10		7385751	73809459	105	5174	129	2									
AMAC1L3	643664	mdanderson.org	37	chr17	7385761	7385761	+	Missense_Mutation	SNP	G	G	T																															cctctgccttgagagccaggGtctcagtggctacgactggt																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr17:7385761G>T	ENST00000412468.2	+	2	573	c.458G>T	c.(457-459)gGt>gTt	p.G153V	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	153	EamA 1.					integral component of membrane (GO:0016021)											GAGAGCCAGGGTCTCAGTGGC	0.597																																						.											0													189	180	183					17																	7385761		2203	4300	6503	SO:0001583	missense	643664				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.458G>T	17.37:g.7385761G>T	ENSP00000396523:p.Gly153Val			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582392	0.28180	.	.	ENSG00000181222	ENST00000412468	T	0.50001	0.76	3.93	2.94	0.34122	.	.	.	.	.	T	0.31358	0.0794	N	0.24115	0.695	0.50467	D	0.999875	B	0.06786	0.001	B	0.08055	0.003	T	0.07328	-1.0778	9	0.33141	T	0.24	0.2674	9.8084	0.40808	0.1041:0.0:0.8959:0.0	.	153	P0C7Q6	S35G6_HUMAN	V	153	ENSP00000396523:G153V	ENSP00000396523:G153V	G	+	2	0	SLC35G6	7326485	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	1.064000	0.30579	0.949000	0.37715	0.563000	0.77884	GGT		0.597	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		T	7385761	G	T	7385761	3	4	51	1	0	0	0	0	1	0	0	0	561	1261	44	5	464	5	AMAC1L3	17	7385761	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	10	7385761	73809449	106	5175	129	2									
TP53	7157	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7574015	7574015	+	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	cagctctcggaacatctcgaAgcgctcacgcccacggatct	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr17:7574015A>T	ENST00000269305.4	-	10	1201	c.1012T>A	c.(1012-1014)Ttc>Atc	p.F338I	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F338I|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	338	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		F -> I (in a sporadic cancer; somatic mutation).|F -> 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.F338fs*9(2)|p.F338I(1)|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)	AACATCTCGAAGCGCTCACGC	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	13	Whole gene deletion(8)|Insertion - Frameshift(2)|Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)											58	45	50					17																	7574015		2203	4300	6503	SO:0001583	missense	7157	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;	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.1012T>A	17.37:g.7574015A>T	ENSP00000269305:p.Phe338Ile		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	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929207	0.73327	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.94687	-3.49;-3.49	5.43	5.43	0.79202	p53, tetramerisation domain (3);	0.327214	0.33144	N	0.005234	D	0.96297	0.8792	M	0.77820	2.39	0.45390	D	0.998373	D	0.53885	0.963	P	0.57776	0.827	D	0.96673	0.9498	10	0.87932	D	0	-11.118	13.43	0.61049	1.0:0.0:0.0:0.0	.	338	P04637	P53_HUMAN	I	338;338;327	ENSP00000269305:F338I;ENSP00000391478:F338I	ENSP00000269305:F338I	F	-	1	0	TP53	7514740	0.934000	0.31675	0.010000	0.14722	0.295000	0.27426	7.690000	0.84178	2.061000	0.61500	0.459000	0.35465	TTC		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7574015	A	T	7574015	3	4	51	1	0	0	0	0	1	0	0	0	16378	72	3	5	177	5	TP53	17	7574015	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	188254	7574015	73621195	107	5176											
DHX58	79132	bcgsc.ca	37	chr17	40263795	40263795	+	Missense_Mutation	SNP	T	T	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	ccacagtctctaggtgccgcTtggccacataagcagccgcc	8	7	10	16	2	1	0	0	0	1	0	2	0	1	0	5	2	3	2	5	2	2	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr17:40263795T>C	ENST00000251642.3	-	3	338	c.116A>G	c.(115-117)aAg>aGg	p.K39R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	39	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGGTGCCGCTTGGCCACATA	0.597																																						.											0													122	111	115					17																	40263795		2203	4300	6503	SO:0001583	missense	79132			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.116A>G	17.37:g.40263795T>C	ENSP00000251642:p.Lys39Arg		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.485758	0.26686	.	.	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196;ENST00000430773	T;T;T	0.35048	1.98;1.33;1.33	4.99	3.91	0.45181	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.108247	0.64402	D	0.000009	T	0.19366	0.0465	N	0.21240	0.645	0.32355	N	0.557916	B;B	0.14012	0.009;0.004	B;B	0.20955	0.032;0.014	T	0.16394	-1.0404	10	0.16896	T	0.51	-7.3343	3.4805	0.07601	0.1649:0.1754:0.0:0.6598	.	39;39	B7Z455;Q96C10	.;DHX58_HUMAN	R	39	ENSP00000251642:K39R;ENSP00000416389:K39R;ENSP00000404639:K39R	ENSP00000251642:K39R	K	-	2	0	DHX58	37517321	0.895000	0.30542	1.000000	0.80357	0.390000	0.30446	0.434000	0.21494	0.931000	0.37242	-0.624000	0.04008	AAG		0.597	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		C	40263795	T	C	40263795	3	2	51	1	0	0	0	0	1	0	0	0	4514	1609	56	2	1968	2	DHX58	17	40263795	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	32689780	40263795	40931415	108	5177											
SMCHD1	23347	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr18	2703826	2703826	+	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	tccttctaaaaagcaaggtcCctgggcaacatatgcagcaa	14	8	8	11	0	1	0	0	0	1	0	3	0	3	0	2	2	4	4	2	2	7	3			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr18:2703826C>A	ENST00000320876.6	+	13	2122	c.1784C>A	c.(1783-1785)cCc>cAc	p.P595H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.P595H|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	595					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						AAGCAAGGTCCCTGGGCAACA	0.348																																						.											0													75	74	74					18																	2703826		1832	4101	5933	SO:0001583	missense	23347			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.1784C>A	18.37:g.2703826C>A	ENSP00000326603:p.Pro595His		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926320	0.34002	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26373	1.74;1.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	L	0.55481	1.735	0.53005	D	0.999967	D	0.89917	1.0	D	0.87578	0.998	T	0.44283	-0.9338	10	0.87932	D	0	-4.9546	20.1086	0.97902	0.0:1.0:0.0:0.0	.	595	A6NHR9	SMHD1_HUMAN	H	595	ENSP00000326603:P595H;ENSP00000261598:P595H	ENSP00000261598:P595H	P	+	2	0	SMCHD1	2693826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.925000	0.75829	2.756000	0.94617	0.563000	0.77884	CCC		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2703826	C	A	2703826	3	1	51	1	0	0	0	0	1	0	0	0	14788	623	22	5	1834	5	SMCHD1	18	2703826	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10		2703826	75373422	109	5178											
GNG7	2788	broad.mit.edu	37	chr19	2515020	2515020	+	Nonstop_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	gagaacatatgagaacacagTtataaaataatacaaggttt	20	10	7	4	0	0	2	0	1	0	2	0	4	0	2	0	1	3	2	0	1	9	6			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:2515020T>A	ENST00000382159.3	-	5	404	c.207A>T	c.(205-207)taA>taT	p.*69Y		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	0					behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|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)			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAACACAGTTATAAAATAA	0.478																																						.											0													59	64	62					19																	2515020		2203	4300	6503	SO:0001578	stop_lost	2788			AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533			4410	protein-coding gene	gene with protein product		604430				9600093	Standard	NM_052847		Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.207A>T	19.37:g.2515020T>A			B2R496	Missense_Mutation	SNP	ENST00000382159.3	37	CCDS12091.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243295	0.39697	.	.	ENSG00000176533	ENST00000382159	.	.	.	4.16	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7023	0.28630	0.0:0.7966:0.0:0.2034	.	.	.	.	Y	69	.	.	X	-	3	2	GNG7	2466020	1.000000	0.71417	0.330000	0.25442	0.591000	0.36615	2.069000	0.41481	0.836000	0.34901	-0.337000	0.08149	TAA		0.478	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451345.1	NM_052847		A	2515020	T	A	2515020	4	1	51	1	0	0	0	0	0	0	0	0	6531	1732	60	5	3	5	GNG7	19	2515020	Nonstop_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10		2515020	56613963	110	5179											
PIP5K1C	23396	mdanderson.org	37	chr19	3656451	3656451	+	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	aggaactcggcctccttgtgCatgacggtcttgatgatgaa	9	11	12	9	2	1	4	0	4	1	0	3	5	2	5	2	3	2	1	2	3	2	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:3656451C>T	ENST00000335312.3	-	6	661	c.573G>A	c.(571-573)atG>atA	p.M191I	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.M191I|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.M191I|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.M191I|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	191	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCCTTGTGCATGACGGTCT	0.632																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	.											0													80	81	81					19																	3656451		2203	4300	6503	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.573G>A	19.37:g.3656451C>T	ENSP00000335333:p.Met191Ile		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577761	0.65878	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.35236	1.32;1.32;1.32	4.22	4.22	0.49857	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.43152	1.355	0.54753	D	0.999988	B;B	0.24882	0.113;0.079	B;B	0.19391	0.025;0.017	T	0.29305	-1.0016	10	0.87932	D	0	-34.5769	15.9238	0.79597	0.0:1.0:0.0:0.0	.	191;191	O60331-3;O60331	.;PI51C_HUMAN	I	191	ENSP00000335333:M191I;ENSP00000445992:M191I;ENSP00000444779:M191I	ENSP00000335333:M191I	M	-	3	0	PIP5K1C	3607451	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.568000	0.82369	2.067000	0.61834	0.561000	0.74099	ATG		0.632	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		T	3656451	C	T	3656451	3	4	51	1	0	0	0	0	1	0	0	0	11941	710	25	4	1485	4	PIP5K1C	19	3656451	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	1141431	3656451	55472532	111	5180											
FUT3	2525	mdanderson.org	37	chr19	5843822	5843822	+	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	tacctggattcctgctgcagTttccagcaggccttgcagaa	8	11	10	12	0	0	1	0	0	0	1	2	2	2	2	4	2	5	5	4	2	2	4	rs199931170	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:5843822T>C	ENST00000303225.6	-	3	1663	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	FUT3_ENST00000458379.2_Silent_p.K343K|FUT3_ENST00000589620.1_Silent_p.K343K|FUT3_ENST00000589918.1_Silent_p.K343K|FUT3_ENST00000593144.1_5'Flank	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	343					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTGCTGCAGTTTCCAGCAGG	0.632																																					Esophageal Squamous(82;745 1728 24593 44831)	.											0													61	65	64					19																	5843822		2203	4300	6503	SO:0001819	synonymous_variant	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.1029A>G	19.37:g.5843822T>C			B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	ENST00000303225.6	37	CCDS12153.1																																																																																				0.632	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		C	5843822	T	C	5843822	2	2	51	1	0	0	0	0	0	0	0	1	6105	1722	60	2		2	FUT3	19	5843822	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	2187371	5843822	53285161	112	5181											
MUC16	94025	broad.mit.edu	37	chr19	9054266	9054267	+	Frame_Shift_Ins	INS	-	-	G																															caggcgaagtggatgtctgaINSgggcctttgactggtcttat																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:9054266_9054267insG	ENST00000397910.4	-	4	31558_31559	c.31355_31356insC	c.(31354-31356)cctfs	p.P10452fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10454	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						TGGATGTCTGAGGGCCTTTGAC	0.47																																						.											0																																										SO:0001589	frameshift_variant	94025			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.31356dupC	19.37:g.9054269_9054269dupG	ENSP00000381008:p.Pro10452fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	CCDS54212.1																																																																																				0.47	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9054267	-	G	9054266	7	5	51	1	0	1	1	0	0	0	0	0	9973	291	11	0	12491	0	MUC16	19	9054266	Frame_Shift_Ins	INS	-	TCGA-KN-8436-01A-11D-2310-10	3210444	9054266	50074717	113	5182											
FBXW9	84261	ucsc.edu	37	chr19	12807079	12807079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcggagcgcgtggcacAcccgcgacaggacgtggagc	7	3	18	13	7	0	0	0	0	0	0	1	4	0	3	1	5	2	1	1	5	0	0			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:12807079A>G	ENST00000380339.3	-	1	353	c.317T>C	c.(316-318)gTg>gCg	p.V106A	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.V106A|FBXW9_ENST00000587955.1_Missense_Mutation_p.V106A			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	106	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CGCGTGGCACACCCGCGACAG	0.697																																						.											0													10	14	13					19																	12807079		1984	4113	6097	SO:0001583	missense	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.317T>C	19.37:g.12807079A>G	ENSP00000369696:p.Val106Ala		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37		.	.	.	.	.	.	.	.	.	.	A	33	5.231393	0.95207	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.72394	-0.65;-0.65	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000010	T	0.81044	0.4741	M	0.68952	2.095	0.80722	D	1	D;D	0.69078	0.997;0.994	D;P	0.69654	0.965;0.888	T	0.82388	-0.0482	10	0.56958	D	0.05	-28.5893	12.6408	0.56709	1.0:0.0:0.0:0.0	.	106;106	Q5XUX1-2;Q5XUX1-3	.;.	A	106	ENSP00000376945:V106A;ENSP00000369696:V106A	ENSP00000369696:V106A	V	-	2	0	FBXW9	12668079	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.956000	0.70315	1.984000	0.57885	0.459000	0.35465	GTG		0.697	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		G	12807079	A	G	12807079	3	3	51	1	0	0	0	0	1	0	0	0	5771	159	6	2	1099	2	FBXW9	19	12807079	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	3752813	12807079	46321904	114	5183											
RHPN2	85415	mdanderson.org	37	chr19	33493830	33493830	+	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	tgtgcaagcatcattttgacGagcacgctgagcatggcagg	10	9	13	9	2	1	2	1	2	0	0	1	3	1	2	0	2	4	6	0	2	1	2	rs74453945	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:33493830G>A	ENST00000254260.3	-	8	872	c.837C>T	c.(835-837)ctC>ctT	p.L279L	RHPN2_ENST00000400226.4_Silent_p.L128L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	279	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)					TCATTTTGACGAGCACGCTGA	0.463																																						.											0													55	50	52					19																	33493830		2203	4300	6503	SO:0001819	synonymous_variant	85415			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.837C>T	19.37:g.33493830G>A			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																				0.463	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		A	33493830	G	A	33493830	2	1	51	1	0	0	0	0	0	0	0	1	13351	1045	37	1		1	RHPN2	19	33493830	Silent	SNP	G	TCGA-KN-8436-01A-11D-2310-10	20686751	33493830	25635153	115	5184											
TMEM147	10430	ucsc.edu;bcgsc.ca	37	chr19	36036858	36036858	+	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	cctctttgtccaactctgcaAggtgagggccaccgggaagc	8	8	12	13	1	2	1	0	1	2	0	3	2	3	2	4	3	3	1	4	3	3	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:36036858A>G	ENST00000222284.5	+	2	291	c.146A>G	c.(145-147)aAg>aGg	p.K49R	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Splice_Site_p.K49R|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_5'UTR	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	49						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)			CAACTCTGCAAGGTGAGGGCC	0.682																																						.											0													47	41	43					19																	36036858		2203	4300	6503	SO:0001630	splice_region_variant	10430			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.147+1A>G	19.37:g.36036858A>G			A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.809674	0.50421	.	.	ENSG00000105677	ENST00000222284;ENST00000392205	T;T	0.64085	-0.08;-0.08	4.98	2.88	0.33553	.	0.109198	0.64402	D	0.000009	T	0.71787	0.3381	M	0.83692	2.655	0.58432	D	0.999998	D	0.61697	0.99	P	0.58266	0.836	T	0.69347	-0.5169	10	0.54805	T	0.06	.	5.0146	0.14330	0.6976:0.206:0.0964:0.0	.	49	Q9BVK8	TM147_HUMAN	R	49	ENSP00000222284:K49R;ENSP00000376041:K49R	ENSP00000222284:K49R	K	+	2	0	TMEM147	40728698	1.000000	0.71417	0.999000	0.59377	0.000000	0.00434	7.959000	0.87885	0.385000	0.24970	-1.046000	0.02355	AAG		0.682	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635	Missense_Mutation	G	36036858	A	G	36036858	5	3	51	1	0	0	0	0	0	0	1	0	16058	86	3	2	152	2	TMEM147	19	36036858	Splice_Site	SNP	A	TCGA-KN-8436-01A-11D-2310-10	2543028	36036858	23092125	116	5185											
HRC	3270	mdanderson.org	37	chr19	49657916	49657916	+	Silent	SNP	T	T	C																															tcctcctcctcctcctcctcTtctccttcatcatcttcccc																								rs7409255		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	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																																					Melanoma(37;75 1097 24567 25669 30645)	.											0													119	95	103					19																	49657916		2203	4300	6503	SO:0001819	synonymous_variant	3270				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			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	51	1	0	0	0	0	0	0	0	1	7352	1606	56	2		2	HRC	19	49657916	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	13621058	49657916	9471067	117	5186	130	2									
HRC	3270	mdanderson.org	37	chr19	49657920	49657920	+	Missense_Mutation	SNP	C	C	T																															cctcctcctcctcctcttctCcttcatcatcttccccatca																								rs200730671		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:49657920C>T	ENST00000252825.4	-	1	761	c.575G>A	c.(574-576)gGa>gAa	p.G192E	HRC_ENST00000595625.1_Missense_Mutation_p.G192E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	192	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)		ctcctcttcTCCTTCATCATC	0.562																																					Melanoma(37;75 1097 24567 25669 30645)	.											0													124	98	107					19																	49657920		2203	4300	6503	SO:0001583	missense	3270				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.575G>A	19.37:g.49657920C>T	ENSP00000252825:p.Gly192Glu		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.835792	0.00579	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.05717	3.4	2.59	-1.01	0.10169	.	.	.	.	.	T	0.02156	0.0067	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46289	-0.9202	9	0.02654	T	1	4.5523	7.8184	0.29274	0.0:0.7009:0.0:0.2991	.	192	P23327	SRCH_HUMAN	E	192;162	ENSP00000252825:G192E	ENSP00000252825:G192E	G	-	2	0	HRC	54349732	0.005000	0.15991	0.001000	0.08648	0.082000	0.17680	-0.740000	0.04861	-0.145000	0.11294	-0.389000	0.06534	GGA		0.562	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		T	49657920	C	T	49657920	3	4	51	1	0	0	0	0	1	0	0	0	7352	855	30	3	1548	3	HRC	19	49657920	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	4	49657920	9471063	118	5187	130	2									
PTPRH	5794	mdanderson.org	37	chr19	55716805	55716805	+	Missense_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	atccacggtgatgttagtgtGtgctgtgcttcgagtccctg	5	14	13	9	2	0	1	0	1	0	0	3	2	2	1	2	1	2	3	2	1	1	2	rs200319382		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:55716805G>A	ENST00000376350.3	-	4	530	c.508C>T	c.(508-510)Cac>Tac	p.H170Y	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	170	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ATGTTAGTGTGTGCTGTGCTT	0.567													t|||	1	0.000199681	0	0	5008	,	,		19765	0.001		0	False		,,,				2504	0					.											0													162	144	150					19																	55716805		2203	4299	6502	SO:0001583	missense	5794				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.508C>T	19.37:g.55716805G>A	ENSP00000365528:p.His170Tyr		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	t	14.77	2.635065	0.47049	.	.	ENSG00000080031	ENST00000376350	T	0.57436	0.4	3.93	-1.55	0.08558	Fibronectin, type III (4);Immunoglobulin-like fold (1);	3.173960	0.01664	N	0.025272	T	0.37046	0.0989	N	0.14661	0.345	0.09310	N	1	B	0.31519	0.327	B	0.35607	0.206	T	0.21759	-1.0236	10	0.51188	T	0.08	.	4.2695	0.10780	0.0:0.3384:0.3199:0.3416	.	170	Q9HD43	PTPRH_HUMAN	Y	170	ENSP00000365528:H170Y	ENSP00000365528:H170Y	H	-	1	0	PTPRH	60408617	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.994000	0.00656	-0.644000	0.05465	-2.191000	0.00312	CAC		0.567	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			A	55716805	G	A	55716805	3	1	51	1	0	0	0	0	1	0	0	0	12803	1377	48	4	2907	4	PTPRH	19	55716805	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	6058885	55716805	3412178	119	5188											
PEG3	5178	ucsc.edu;mdanderson.org	37	chr19	57328023	57328023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcacgttcacgttcaTgttcacgctcattatctttg	7	16	6	12	4	6	0	5	0	1	0	6	0	6	0	0	0	0	5	0	0	1	6	rs79960989	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:57328023T>C	ENST00000326441.9	-	10	2150	c.1787A>G	c.(1786-1788)cAt>cGt	p.H596R	PEG3_ENST00000593695.1_Missense_Mutation_p.H470R|PEG3_ENST00000598410.1_Missense_Mutation_p.H472R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H596R|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	596					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcatgttcacgctc	0.458													T|||	60	0.0119808	0.0424	0.0043	5008	,	,		21623	0.001		0	False		,,,				2504	0					.											0								T	ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS,,,ARG/HIS,	134,4272	96.2+/-134.9	2,130,2071	107	83	91		1787,1409,1787,1415,,,1787,	-0.9	0	19	dbSNP_131	91	0,8600		0,0,4300	yes	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	29,29,29,29,,,29,	2,130,6371	CC,CT,TT		0.0,3.0413,1.0303	benign,benign,benign,benign,,,benign,	596/1589,470/1463,596/1589,472/1465,,,596/1589,	57328023	134,12872	2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1787A>G	19.37:g.57328023T>C	ENSP00000326581:p.His596Arg		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	T	0.007	-2.013031	0.00422	0.030413	0.0	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03004	4.08;4.08	1.69	-0.871	0.10642	.	.	.	.	.	T	0.00300	0.0009	N	0.00308	-1.67	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45702	-0.9243	8	0.02654	T	1	.	3.022	0.06078	0.0:0.5185:0.2895:0.192	.	472;596;531	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	596	ENSP00000326581:H596R;ENSP00000403051:H596R	ENSP00000326581:H596R	H	-	2	0	ZIM2	62019835	0.000000	0.05858	0.002000	0.10522	0.108000	0.19459	-0.752000	0.04797	-0.083000	0.12618	-0.317000	0.08691	CAT		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57328023	T	C	57328023	3	2	51	1	0	0	0	0	1	0	0	0	11720	1464	51	4	2983	4	PEG3	19	57328023	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	1611218	57328023	1800960	120	5189											
SIRPB1	10326	mdanderson.org	37	chr20	1585454	1585454	+	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	ctgcaaggtgacgtgggccaCctcgcagatgacttgagagt	9	8	14	10	2	0	4	0	3	0	2	1	5	0	4	2	2	1	2	2	2	1	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr20:1585454C>T	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.V229M|SIRPB1_ENST00000279477.7_Missense_Mutation_p.V229M|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACGTGGGCCACCTCGCAGATG	0.617																																						.											0													27	27	27					20																	1585454		178	712	890	SO:0001627	intron_variant	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15060G>A	20.37:g.1585454C>T			A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303595	0.60305	.	.	ENSG00000101307	ENST00000279477	T	0.13538	2.58	2.24	2.24	0.28232	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42314	0.1197	H	0.96518	3.835	0.80722	D	1	D	0.67145	0.996	P	0.62382	0.901	T	0.51156	-0.8741	9	0.66056	D	0.02	.	7.9259	0.29874	0.0:1.0:0.0:0.0	.	229	Q5TFQ8	SIRBL_HUMAN	M	229	ENSP00000279477:V229M	ENSP00000279477:V229M	V	-	1	0	SIRPB1	1533454	0.730000	0.28100	0.997000	0.53966	0.345000	0.29048	0.345000	0.19979	1.232000	0.43678	0.195000	0.17529	GTG		0.617	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1585454	C	T	1585454	1	4	51	0	1	0	0	0	0	0	0	0	14333	507	18	3		3	SIRPB1	20	1585454	Intron	SNP	C	TCGA-KN-8436-01A-11D-2310-10		1585454	61440066	121	5190											
JAG1	182	mdanderson.org	37	chr20	10621581	10621581	+	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	atcccgtatatcttcagcagActggaaaaacaattgtcaga	15	10	7	9	1	3	2	2	0	1	2	4	3	4	3	1	1	2	2	1	1	5	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr20:10621581A>G	ENST00000254958.5	-	25	3564	c.3049T>C	c.(3049-3051)Tct>Cct	p.S1017P	JAG1_ENST00000423891.2_Splice_Site_p.S858P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1017					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|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)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTTCAGCAGACTGGAAAAAC	0.408									Alagille Syndrome																													.											0													92	83	86					20																	10621581		2203	4300	6503	SO:0001630	splice_region_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3049-1T>C	20.37:g.10621581A>G			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527328	0.64860	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87256	-2.22;-2.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.73129	-0.4080	10	0.62326	D	0.03	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	1017	P78504	JAG1_HUMAN	P	1017;858	ENSP00000254958:S1017P;ENSP00000389519:S858P	ENSP00000254958:S1017P	S	-	1	0	JAG1	10569581	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.915000	0.75770	2.235000	0.73313	0.533000	0.62120	TCT		0.408	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	Missense_Mutation	G	10621581	A	G	10621581	5	3	51	1	0	0	0	0	0	0	1	0	7934	289	10	2	615	2	JAG1	20	10621581	Splice_Site	SNP	A	TCGA-KN-8436-01A-11D-2310-10	9036127	10621581	52403939	122	5191											
BAGE	85319	hgsc.bcm.edu;mdanderson.org	37	chr21	11097574	11097574	+	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	gccatcttcaggctccaaccTccagctcaccacaggggact	9	7	8	17	0	3	0	2	0	1	0	5	1	5	1	5	3	2	2	5	3	1	1	rs55673353	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr21:11097574T>A	ENST00000470054.1	-	0	295							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)		ggctccaacctccagctcacc	0.542																																						.											0													57	74	68					21																	11097574		1412	2555	3967			574			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.11097574T>A			A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																					0.542	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11097574	T	A	11097574	1	1	51	0	1	0	0	0	0	0	0	0	1291	1550	54	5		5	BAGE	21	11097574	RNA	SNP	T	TCGA-KN-8436-01A-11D-2310-10		11097574	37032321	123	5192											
ERG	2078	mdanderson.org	37	chr21	39817391	39817391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctggctgggggttgagAcagccaatcctgctgaggga	8	7	16	10	0	0	2	0	2	0	1	1	5	1	3	3	4	2	3	3	4	1	1			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr21:39817391A>G	ENST00000417133.2	-	4	378	c.193T>C	c.(193-195)Tct>Cct	p.S65P	ERG_ENST00000398897.1_Intron|ERG_ENST00000398919.2_Missense_Mutation_p.S65P|ERG_ENST00000398905.1_Missense_Mutation_p.S58P|ERG_ENST00000398907.1_Missense_Mutation_p.S58P|ERG_ENST00000288319.7_Missense_Mutation_p.S58P|ERG_ENST00000442448.1_Missense_Mutation_p.S65P|ERG_ENST00000398910.1_Missense_Mutation_p.S65P|ERG_ENST00000429727.2_Missense_Mutation_p.S58P|ERG_ENST00000398911.1_Missense_Mutation_p.S65P|ERG_ENST00000453032.2_Intron	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.		T -> P (in LQT2; dbSNP:rs28933095). {ECO:0000269|PubMed:12354768, ECO:0000269|PubMed:15840476}.		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)	GGGGGTTGAGACAGCCAATCC	0.567			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																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"	0													99	82	88					21																	39817391		2203	4300	6503	SO:0001583	missense	2078				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.193T>C	21.37:g.39817391A>G	ENSP00000414150:p.Ser65Pro		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128379	0.37533	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T	0.15256	2.46;2.44;2.46;2.45;2.46;2.45;2.45;2.46	5.77	3.1	0.35709	.	0.355623	0.28828	N	0.014019	T	0.11281	0.0275	N	0.19112	0.55	0.41687	D	0.989328	B;B;B;B;B	0.11235	0.001;0.0;0.004;0.001;0.0	B;B;B;B;B	0.17098	0.006;0.001;0.017;0.003;0.0	T	0.09751	-1.0660	10	0.39692	T	0.17	.	10.8199	0.46599	0.851:0.0:0.149:0.0	.	58;65;65;65;58	B4E3C5;P11308;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.	P	58;58;58;65;65;65;65;65;58	ENSP00000381877:S58P;ENSP00000381879:S58P;ENSP00000288319:S58P;ENSP00000381882:S65P;ENSP00000414150:S65P;ENSP00000381881:S65P;ENSP00000394694:S65P;ENSP00000381891:S65P	ENSP00000288319:S58P	S	-	1	0	ERG	38739261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.432000	0.59922	1.011000	0.39340	0.533000	0.62120	TCT		0.567	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		G	39817391	A	G	39817391	3	3	51	1	0	0	0	0	1	0	0	0	5222	275	10	2	1303	2	ERG	21	39817391	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	28719817	39817391	8312504	124	5193											
KRTAP10-10	353333	ucsc.edu	37	chr21	46057634	46057634	+	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	tgctgtgtgcctgtctgctgTgtgcccgtctgctgcgtgcc	0	14	14	13	2	2	0	0	0	2	0	2	0	2	0	3	0	7	3	3	0	0	0	rs61029972	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr21:46057634T>C	ENST00000380095.1	+	1	362	c.300T>C	c.(298-300)tgT>tgC	p.C100C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	100	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						ctgtctgctgtgtgcccgtct	0.632													C|||	539	0.107628	0.2383	0.0591	5008	,	,		18755	0.0109		0.0557	False		,,,				2504	0.1186					.											0													126	121	123					21																	46057634		2203	4298	6501	SO:0001819	synonymous_variant	353333			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.300T>C	21.37:g.46057634T>C				Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																				0.632	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057634	T	C	46057634	2	2	51	1	0	0	0	0	0	0	0	1	8506	1702	59	2		2	KRTAP10-10	21	46057634	Silent	SNP	T	TCGA-KN-8436-01A-11D-2310-10	6240243	46057634	2072261	125	5194											
AIFM3	150209	ucsc.edu	37	chr22	21334338	21334338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatcgccgtggccagcaTgaactacgatcccattgtgt	8	10	12	11	3	0	2	0	2	0	0	2	3	1	2	3	2	3	1	3	2	2	2			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr22:21334338T>C	ENST00000399167.2	+	19	1922	c.1682T>C	c.(1681-1683)aTg>aCg	p.M561T	LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.M561T|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000389355.3_5'Flank|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000333607.6_Missense_Mutation_p.M561T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.M561T|AIFM3_ENST00000405089.1_Missense_Mutation_p.M567T|AIFM3_ENST00000335375.5_Missense_Mutation_p.M549T	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	561					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)			GTGGCCAGCATGAACTACGAT	0.617																																						.											0													71	57	61					22																	21334338		2203	4300	6503	SO:0001583	missense	150209			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.1682T>C	22.37:g.21334338T>C	ENSP00000382120:p.Met561Thr		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329743	0.81690	.	.	ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000099949	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607;ENST00000539817	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.87	4.87	0.63330	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	M	0.84511	2.7	0.80722	D	1	D;P;P;P;P;P	0.65815	0.995;0.814;0.865;0.93;0.93;0.885	P;P;B;P;P;B	0.58721	0.844;0.774;0.306;0.62;0.62;0.416	T	0.69250	-0.5194	10	0.66056	D	0.02	-4.5669	12.4825	0.55852	0.0:0.0:0.0:1.0	.	549;1;549;567;561;561	B7Z9S7;F5GXU8;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;.;AIFM3_HUMAN	T	561;561;567;549;561;561;1	ENSP00000382120:M561T;ENSP00000382116:M561T;ENSP00000385800:M567T;ENSP00000335369:M549T;ENSP00000390798:M561T;ENSP00000327671:M561T	ENSP00000327671:M561T	M	+	2	0	AIFM3;LZTR1	19664338	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.993000	0.76245	2.047000	0.60756	0.533000	0.62120	ATG		0.617	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		C	21334338	T	C	21334338	3	2	51	1	0	0	0	0	1	0	0	0	428	1464	51	4	1770	4	AIFM3	22	21334338	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10		21334338	29970228	126	5195											
FAM118A	55007	mdanderson.org	37	chr22	45723920	45723920	+	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	cagaacaagcccatggagtcCctggacttgaaggacaagac	14	5	11	11	0	0	3	0	1	0	2	1	6	1	6	2	3	2	0	2	3	4	1	rs111386114		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr22:45723920C>T	ENST00000216214.3	+	5	1332	c.498C>T	c.(496-498)tcC>tcT	p.S166S	FAM118A_ENST00000405673.1_Silent_p.S166S|FAM118A_ENST00000441876.2_Silent_p.S166S|FAM118A_ENST00000405548.3_5'Flank	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	166						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCATGGAGTCCCTGGACTTGA	0.617																																						.											0													11	10	10					22																	45723920		2198	4293	6491	SO:0001819	synonymous_variant	55007			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.498C>T	22.37:g.45723920C>T			B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	CCDS14065.1																																																																																				0.617	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		T	45723920	C	T	45723920	2	4	51	1	0	0	0	0	0	0	0	1	5411	610	22	3		3	FAM118A	22	45723920	Silent	SNP	C	TCGA-KN-8436-01A-11D-2310-10	24389582	45723920	5580646	127	5196											
FAM9C	171484	mdanderson.org	37	chrX	13058890	13058890	+	Missense_Mutation	SNP	T	T	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	atcatacctttttagttgtgTtgttctcaaaacatttttaa	11	20	4	6	0	2	0	2	0	1	0	3	0	2	0	1	0	2	3	1	0	5	10			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:13058890T>C	ENST00000333995.3	-	5	446	c.316A>G	c.(316-318)Aca>Gca	p.T106A	FAM9C_ENST00000380625.3_Missense_Mutation_p.T106A|FAM9C_ENST00000542843.1_3'UTR			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	106						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TTTAGTTGTGTTGTTCTCAAA	0.299																																						.											0													104	81	89					X																	13058890		2202	4294	6496	SO:0001583	missense	171484				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"testis expressed 39C"	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.316A>G	X.37:g.13058890T>C	ENSP00000334430:p.Thr106Ala		B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	CCDS35203.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.694937	0.00731	.	.	ENSG00000187268	ENST00000380625;ENST00000333995	T;T	0.21191	2.02;2.02	0.588	0.588	0.17445	.	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33317	-0.9873	8	0.30854	T	0.27	.	.	.	.	.	106	Q8IZT9	FAM9C_HUMAN	A	106	ENSP00000369999:T106A;ENSP00000334430:T106A	ENSP00000334430:T106A	T	-	1	0	FAM9C	12968811	0.997000	0.39634	0.001000	0.08648	0.033000	0.12548	0.391000	0.20784	0.436000	0.26393	0.150000	0.16122	ACA		0.299	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		C	13058890	T	C	13058890	3	2	51	1	0	0	0	0	1	0	0	0	5661	1725	60	2	196	2	FAM9C	23	13058890	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10		13058890	142211670	128	5197											
SSX7	280658	mdanderson.org	37	chrX	52681937	52681937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctagtttagtcatggccTcatactttctcttcatatac	9	17	4	11	0	4	0	3	0	1	0	5	0	4	0	2	1	3	1	2	1	6	9			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:52681937T>C	ENST00000298181.5	-	3	325	c.167A>G	c.(166-168)gAg>gGg	p.E56G		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	56	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					AGTCATGGCCTCATACTTTCT	0.408																																						.											0													141	110	120					X																	52681937		2203	4299	6502	SO:0001583	missense	280658			BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.167A>G	X.37:g.52681937T>C	ENSP00000298181:p.Glu56Gly			Missense_Mutation	SNP	ENST00000298181.5	37	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	2.360	-0.346762	0.05208	.	.	ENSG00000187754	ENST00000298181	T	0.00808	5.67	0.56	-1.12	0.09808	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.212960	0.06009	N	0.649154	T	0.00967	0.0032	L	0.35288	1.05	0.09310	N	1	B	0.16802	0.019	B	0.21151	0.033	T	0.48603	-0.9021	9	0.46703	T	0.11	.	.	.	.	.	56	Q7RTT5	SSX7_HUMAN	G	56	ENSP00000298181:E56G	ENSP00000298181:E56G	E	-	2	0	SSX7	52698662	0.131000	0.22433	0.000000	0.03702	0.011000	0.07611	0.641000	0.24720	-0.722000	0.04922	0.146000	0.16034	GAG		0.408	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		C	52681937	T	C	52681937	3	2	51	1	0	0	0	0	1	0	0	0	15208	1551	54	2	419	2	SSX7	23	52681937	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	39623047	52681937	102588623	129	5198											
RGAG4	340526	mdanderson.org	37	chrX	71350156	71350156	+	Missense_Mutation	SNP	T	T	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	ctccttcctcctcattcttgTtccttatctcctcctcctcc	2	18	1	20	0	3	0	1	0	2	0	11	0	10	0	8	0	0	1	8	0	1	5			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:71350156T>C	ENST00000545866.1	-	1	1602	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.N412S	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	412										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTCATTCTTGTTCCTTATctc	0.488																																						.											0													181	166	171					X																	71350156		2112	4196	6308	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1235A>G	X.37:g.71350156T>C	ENSP00000441366:p.Asn412Ser		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	T	9.642	1.139364	0.21205	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.13307	2.6;2.6	4.24	-5.78	0.02362	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.40421	-0.9564	8	.	.	.	.	3.4147	0.07372	0.1281:0.4348:0.1242:0.3129	.	412	Q5HYW3	RGAG4_HUMAN	S	412	ENSP00000441366:N412S;ENSP00000418667:N412S	.	N	-	2	0	RGAG4	71266881	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	1.051000	0.30417	-1.520000	0.01773	-0.438000	0.05819	AAC		0.488	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		C	71350156	T	C	71350156	3	2	51	1	0	0	0	0	1	0	0	0	13275	1725	60	2	478	2	RGAG4	23	71350156	Missense_Mutation	SNP	T	TCGA-KN-8436-01A-11D-2310-10	18668219	71350156	83920404	130	5199											
LPAR4	2846	mdanderson.org	37	chrX	78010586	78010586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaaatgagaagtgagActgctatttttatcaccaat	15	12	8	6	0	1	3	1	3	0	2	1	5	1	3	1	0	1	2	1	0	6	4			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:78010586A>G	ENST00000435339.3	+	2	606	c.220A>G	c.(220-222)Act>Gct	p.T74A		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	74					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GAGAAGTGAGACTGCTATTTT	0.393																																						.											0													237	194	209					X																	78010586		2203	4300	6503	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.220A>G	X.37:g.78010586A>G	ENSP00000408205:p.Thr74Ala		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554702	0.45487	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.39787	1.06;1.06	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.58583	1.82	0.46499	D	0.999075	D	0.89917	1.0	D	0.97110	1.0	T	0.50915	-0.8771	10	0.14252	T	0.57	.	11.0205	0.47715	1.0:0.0:0.0:0.0	.	74	Q99677	LPAR4_HUMAN	A	74	ENSP00000408205:T74A;ENSP00000362398:T74A	ENSP00000362398:T74A	T	+	1	0	LPAR4	77897242	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	8.627000	0.90974	1.471000	0.48121	0.345000	0.21793	ACT		0.393	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		G	78010586	A	G	78010586	3	3	51	1	0	0	0	0	1	0	0	0	8907	275	10	2	222	2	LPAR4	23	78010586	Missense_Mutation	SNP	A	TCGA-KN-8436-01A-11D-2310-10	6660430	78010586	77259974	131	5200											
GPR50	9248	hgsc.bcm.edu	37	chrX	150349560	150349560	+	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	caccagccaccctaaacccaCcactggccacatcaagccag	13	3	5	20	0	1	0	1	0	0	0	1	0	1	0	7	1	3	0	7	1	3	1	rs377556761|rs199797606|rs68058591		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:150349560C>T	ENST00000218316.3	+	2	1574	c.1505C>T	c.(1504-1506)aCc>aTc	p.T502I	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8647286, ECO:0000269|Ref.2}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAAACCCACCACTGGCCAC	0.612																																						.											1	Deletion - In frame(1)	ovary(1)											68	80	76					X																	150349560		1957	3997	5954	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1505C>T	X.37:g.150349560C>T	ENSP00000218316:p.Thr502Ile		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	458	0.2760699216395419	91	0.21875	100	0.3184713375796178	85	0.15625	133	0.19674556213017752	C	4.117	0.019984	0.08006	.	.	ENSG00000102195	ENST00000218316	T	0.72282	-0.64	3.47	1.66	0.24008	.	0.547897	0.19336	N	0.116768	T	0.00012	0.0000	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.12682	-1.0538	10	0.87932	D	0	-1.8077	2.4216	0.04449	0.2395:0.4806:0.0:0.2799	.	502	Q13585	MTR1L_HUMAN	I	502	ENSP00000218316:T502I	ENSP00000218316:T502I	T	+	2	0	GPR50	150100218	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	-0.093000	0.11111	0.311000	0.23014	0.529000	0.55759	ACC		0.612	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		T	150349560	C	T	150349560	3	4	51	1	0	0	0	0	1	0	0	0	6697	507	18	3	1511	3	GPR50	23	150349560	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	72338974	150349560	4921000	132	5201											
GABRE	2564	mdanderson.org	37	chrX	151123190	151123190	+	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	tacctacaagttaaggcaaaCaagccagtagagcacattga	17	7	8	9	0	0	2	0	1	0	1	0	2	0	2	2	1	5	4	2	1	7	5	rs1061417	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:151123190C>A	ENST00000370328.3	-	9	1557	c.1504G>T	c.(1504-1506)Gtt>Ttt	p.V502F	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	502				V -> F (in Ref. 2; CAA70903). {ECO:0000305}.	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)	TTAAGGCAAACAAGCCAGTAG	0.547																																						.											0													23	23	23					X																	151123190		2203	4297	6500	SO:0001583	missense	2564			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.1504G>T	X.37:g.151123190C>A	ENSP00000359353:p.Val502Phe		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526136	0.44969	.	.	ENSG00000102287	ENST00000370328	D	0.81996	-1.56	5.34	2.5	0.30297	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.344162	0.20485	N	0.091418	T	0.68805	0.3041	N	0.16743	0.435	0.23101	N	0.998298	P	0.50272	0.933	P	0.48030	0.564	T	0.58645	-0.7600	10	0.18710	T	0.47	.	2.8551	0.05570	0.1845:0.5352:0.1754:0.1049	rs1061417;rs1061417	502	P78334	GBRE_HUMAN	F	502	ENSP00000359353:V502F	ENSP00000359353:V502F	V	-	1	0	GABRE	150873846	0.003000	0.15002	0.979000	0.43373	0.739000	0.42172	0.123000	0.15708	0.077000	0.16863	0.600000	0.82982	GTT		0.547	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		A	151123190	C	A	151123190	3	1	51	1	0	0	0	0	1	0	0	0	6170	478	17	5	20	5	GABRE	23	151123190	Missense_Mutation	SNP	C	TCGA-KN-8436-01A-11D-2310-10	773630	151123190	4147370	133	5202											
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-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	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																																						.											0			GRCh37	CM012042	ABCD1	M							19	16	17					X																	153008788		2189	4274	6463	SO:0001583	missense	215			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		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	51	1	0	0	0	0	1	0	0	0	60	1116	39	1	2013	1	ABCD1	23	153008788	Missense_Mutation	SNP	G	TCGA-KN-8436-01A-11D-2310-10	1885598	153008788	2261772	134	5203											
ATP6AP1	537	broad.mit.edu;hgsc.bcm.edu	37	chrX	153662709	153662745	+	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-																															ttctctgtggcgtacaaggaCcagtgggaggacctgactcc																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:153662709_153662745delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	ENST00000369762.2	+	7	901_937	c.840_876delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	c.(838-876)gaccagtgggaggacctgactcccctcacctttggggtgfs	p.DQWEDLTPLTFGV280fs	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	280					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)	p.L288R(1)		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)					CGTACAAGGACCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTGCAGGAACTCA	0.57																																						.											1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	537			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.840_876delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	X.37:g.153662709_153662745delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	ENSP00000358777:p.Asp280fs		A6ZKI4|Q8NBT4|Q9H0C7	Frame_Shift_Del	DEL	ENST00000369762.2	37	CCDS35451.1																																																																																				0.57	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		-	153662745	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-	153662709	7	5	51	1	0	1	0	1	0	0	0	0	1165	506	18	0	866	0	ATP6AP1	23	153662709	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	TCGA-KN-8436-01A-11D-2310-10	653921	153662709	1607851	135	5204	131	2									
ATP6AP1	537	bcgsc.ca	37	chrX	153662710	153662746	+	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-																															tctctgtggcgtacaaggacCagtgggaggacctgactccc																										TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:153662710_153662746delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	ENST00000369762.2	+	7	902_938	c.841_877delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	c.(841-879)ccagtgggaggacctgactcccctcacctttggggtgagfs	p.PVGGPDSPHLWGE281fs	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	281					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)	p.L288R(1)		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)					GTACAAGGACCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTGCAGGAACTCAA	0.574																																						.											1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	537			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.841_877delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	X.37:g.153662710_153662746delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	ENSP00000358777:p.Pro281fs		A6ZKI4|Q8NBT4|Q9H0C7	Frame_Shift_Del	DEL	ENST00000369762.2	37	CCDS35451.1																																																																																				0.574	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		-	153662746	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-	153662710	7	5	51	1	0	1	0	1	0	0	0	0	1165	595	21	0	867	0	ATP6AP1	23	153662710	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	TCGA-KN-8436-01A-11D-2310-10	1	153662710	1607850	136	5205	131	2									
MTOR	2475	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	11174395	11174395	+	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	tgtccatcagcctccagttcAgcaaggggtcatagacaaag	12	8	10	11	0	3	1	3	0	0	1	5	1	5	1	3	2	2	2	3	2	3	2			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:11174395A>C	ENST00000361445.4	-	53	7356	c.7280T>G	c.(7279-7281)cTg>cGg	p.L2427R	MTOR_ENST00000376838.1_Missense_Mutation_p.L632R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2427	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCTCCAGTTCAGCAAGGGGTC	0.537																																						.											0													135	115	122					1																	11174395		2203	4300	6503	SO:0001583	missense	2475			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.7280T>G	1.37:g.11174395A>C	ENSP00000354558:p.Leu2427Arg		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750738	0.89753	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.80033	-1.33;-1.33;-1.33	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93392	0.6752	10	0.87932	D	0	-16.8498	15.497	0.75662	1.0:0.0:0.0:0.0	.	2427	P42345	MTOR_HUMAN	R	2427;632;83	ENSP00000354558:L2427R;ENSP00000366034:L632R;ENSP00000398745:L83R	ENSP00000354558:L2427R	L	-	2	0	MTOR	11096982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.254000	0.74563	0.533000	0.62120	CTG		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11174395	A	C	11174395	3	2	52	1	0	0	0	0	1	0	0	0	9954	188	7	5	393	5	MTOR	1	11174395	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10		11174395	238076226	1	5206											
PRDM2	7799	broad.mit.edu	37	chr1	14107869	14107869	+	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	gttgggaatatctttgtgtgTtctgtttgtaaaaaagaatt	11	18	10	2	0	2	1	0	0	2	1	2	2	2	2	0	1	0	4	0	1	6	7			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:14107869T>C	ENST00000235372.7	+	8	4435	c.3579T>C	c.(3577-3579)tgT>tgC	p.C1193C	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.C992C|PRDM2_ENST00000311066.5_Silent_p.C1193C|PRDM2_ENST00000413440.1_Silent_p.C992C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1193					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)		TCTTTGTGTGTTCTGTTTGTA	0.413																																						.											0													97	95	95					1																	14107869		2203	4300	6503	SO:0001819	synonymous_variant	7799			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.3579T>C	1.37:g.14107869T>C			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.413	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		C	14107869	T	C	14107869	2	2	52	1	0	0	0	0	0	0	0	1	12458	1731	60	2		2	PRDM2	1	14107869	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10	2933474	14107869	235142752	2	5207											
TAS1R2	80834	broad.mit.edu	37	chr1	19166380	19166380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctttgcccatgtaggcgaAgctgaaacccaccactgaga	11	8	9	13	1	1	2	0	2	1	1	1	4	1	2	3	1	3	2	3	1	3	2			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:19166380A>G	ENST00000375371.3	-	6	2254	c.2233T>C	c.(2233-2235)Ttc>Ctc	p.F745L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	745					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATGTAGGCGAAGCTGAAACCC	0.542																																						.											0													133	118	123					1																	19166380		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2233T>C	1.37:g.19166380A>G	ENSP00000364520:p.Phe745Leu		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693428	0.48202	.	.	ENSG00000179002	ENST00000375371	D	0.85484	-1.99	5.07	5.07	0.68467	GPCR, family 3, C-terminal (2);	0.000000	0.50627	D	0.000110	D	0.89203	0.6648	M	0.77313	2.365	0.43857	D	0.996458	D	0.89917	1.0	D	0.91635	0.999	D	0.87051	0.2147	10	0.05525	T	0.97	.	9.1243	0.36805	0.8157:0.1843:0.0:0.0	.	745	Q8TE23	TS1R2_HUMAN	L	745	ENSP00000364520:F745L	ENSP00000364520:F745L	F	-	1	0	TAS1R2	19038967	0.990000	0.36364	0.981000	0.43875	0.166000	0.22503	3.097000	0.50251	1.916000	0.55485	0.533000	0.62120	TTC		0.542	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			G	19166380	A	G	19166380	3	3	52	1	0	0	0	0	1	0	0	0	15560	72	3	2	290	2	TAS1R2	1	19166380	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10	5058511	19166380	230084241	3	5208											
LCK	3932	broad.mit.edu	37	chr1	32741193	32741193	+	Missense_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	gttcttcaagaacctgagccGcaaggacgcggagcggcagc	10	5	14	12	4	2	2	1	1	1	1	2	4	2	4	2	3	4	3	2	3	3	2			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:32741193G>A	ENST00000336890.5	+	6	539	c.401G>A	c.(400-402)cGc>cAc	p.R134H	LCK_ENST00000373564.3_Missense_Mutation_p.R192H|LCK_ENST00000333070.4_Missense_Mutation_p.R134H	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	134	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	AACCTGAGCCGCAAGGACGCG	0.682			T	TRB@	T-ALL																																	.		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													7	9	8					1																	32741193		2164	4254	6418	SO:0001583	missense	3932			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.401G>A	1.37:g.32741193G>A	ENSP00000337825:p.Arg134His		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	35	5.545253	0.96488	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000373562;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	D;T;D;T;D;D;D	0.93019	-3.15;-0.17;-3.15;-0.18;-3.15;-3.15;-3.15	5.12	5.12	0.69794	SH2 motif (5);	0.195954	0.33161	N	0.005219	D	0.98419	0.9474	H	0.99464	4.58	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.988;0.98;1.0	D	0.99737	1.1014	10	0.87932	D	0	.	17.7565	0.88450	0.0:0.0:1.0:0.0	.	178;192;134;134	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	H	134;192;134;134;178;134;178;192	ENSP00000337825:R134H;ENSP00000431517:R192H;ENSP00000435605:R134H;ENSP00000362663:R134H;ENSP00000362658:R178H;ENSP00000328213:R134H;ENSP00000362665:R192H	ENSP00000328213:R134H	R	+	2	0	LCK	32513780	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.765000	0.98953	2.571000	0.86741	0.505000	0.49811	CGC		0.682	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		A	32741193	G	A	32741193	3	1	52	1	0	0	0	0	1	0	0	0	8676	1087	38	1	419	1	LCK	1	32741193	Missense_Mutation	SNP	G	TCGA-KN-8437-01A-11D-2310-10	13574813	32741193	216509428	4	5209											
NOTCH2	4853	broad.mit.edu	37	chr1	120539779	120539780	+	Frame_Shift_Ins	INS	-	-	G																															gaaccaggcaggttgaggcaINSggtgccaccatgctggcagt																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:120539779_120539780insG	ENST00000256646.2	-	4	810_811	c.591_592insC	c.(589-594)acctgcfs	p.C198fs	NOTCH2_ENST00000602566.1_Frame_Shift_Ins_p.C159fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	198	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			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)		AGGTTGAGGCAGGTGCCACCAT	0.559			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0																																										SO:0001589	frameshift_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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.592dupC	1.37:g.120539781_120539781dupG	ENSP00000256646:p.Cys198fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Ins	INS	ENST00000256646.2	37	CCDS908.1																																																																																				0.559	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		G	120539780	-	G	120539779	7	5	52	1	0	1	1	0	0	0	0	0	10548	188	7	0	6947	0	NOTCH2	1	120539779	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	87798586	120539779	128710842	5	5210											
INTS3	65123	ucsc.edu	37	chr1	153735835	153735835	+	Missense_Mutation	SNP	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	agtactccagctacagaaggGgaggtgggtacagaccttgt	11	8	14	8	0	0	2	0	0	0	2	1	3	1	3	2	4	4	3	2	4	4	4			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:153735835G>T	ENST00000318967.2	+	16	2331	c.1763G>T	c.(1762-1764)gGg>gTg	p.G588V	INTS3_ENST00000456435.1_Missense_Mutation_p.G382V|INTS3_ENST00000435409.2_Missense_Mutation_p.G588V|INTS3_ENST00000512605.1_Missense_Mutation_p.G382V|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	589					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTACAGAAGGGGAGGTGGGTA	0.527																																						.											0													110	106	107					1																	153735835		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1763G>T	1.37:g.153735835G>T	ENSP00000318641:p.Gly588Val		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638801	0.29157	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.06	4.15	0.48705	.	0.135836	0.48767	D	0.000171	T	0.19087	0.0458	N	0.14661	0.345	0.58432	D	0.999999	B;B;B	0.26809	0.16;0.047;0.032	B;B;B	0.33799	0.17;0.017;0.037	T	0.06881	-1.0802	9	0.31617	T	0.26	.	7.6135	0.28144	0.1861:0.0:0.8139:0.0	.	382;589;588	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	V	588;382;588;382	.	ENSP00000318641:G588V	G	+	2	0	INTS3	152002459	1.000000	0.71417	0.958000	0.39756	0.847000	0.48162	4.681000	0.61663	1.361000	0.45981	0.561000	0.74099	GGG		0.527	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		T	153735835	G	T	153735835	3	4	52	1	0	0	0	0	1	0	0	0	7779	1232	43	5	1825	5	INTS3	1	153735835	Missense_Mutation	SNP	G	TCGA-KN-8437-01A-11D-2310-10	33196056	153735835	95514786	6	5211											
C2orf56	55471	broad.mit.edu	37	chr2	37473258	37473258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttatcatcgaggaacttTctcaacgcattgcattaact	11	14	7	9	2	2	0	2	0	1	0	4	2	2	1	0	1	4	3	0	1	4	4			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr2:37473258T>C	ENST00000002125.4	+	8	896	c.856T>C	c.(856-858)Tct>Cct	p.S286P	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.S188P|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	286					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										CGAGGAACTTTCTCAACGCAT	0.413																																						.											0													210	167	181					2																	37473258		2203	4300	6503	SO:0001583	missense	55471				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"Mitochondrial respiratory chain complex assembly factors"	28816	protein-coding gene	gene with protein product	"mitochondrial dysfunction protein A homolog"	615898	"chromosome 2 open reading frame 56"	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.856T>C	2.37:g.37473258T>C	ENSP00000002125:p.Ser286Pro		Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082869	0.76642	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000439218	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.67	4.5	0.54988	.	0.102077	0.64402	D	0.000004	D	0.87704	0.6244	M	0.83774	2.66	0.43263	D	0.995204	P;D;D;P	0.69078	0.933;0.997;0.997;0.933	P;D;D;P	0.70227	0.756;0.968;0.947;0.824	D	0.88629	0.3168	10	0.87932	D	0	-13.3875	12.8745	0.57982	0.0:0.0:0.5259:0.474	.	259;215;188;286	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	P	286;188;207;244	ENSP00000002125:S286P;ENSP00000337431:S188P;ENSP00000399207:S207P;ENSP00000394436:S244P	ENSP00000002125:S286P	S	+	1	0	C2orf56	37326762	1.000000	0.71417	0.975000	0.42487	0.654000	0.38779	1.544000	0.36158	0.911000	0.36747	0.533000	0.62120	TCT		0.413	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		C	37473258	T	C	37473258	3	2	52	1	0	0	0	0	1	0	0	0	2177	1783	62	4	886	4	C2orf56	2	37473258	Missense_Mutation	SNP	T	TCGA-KN-8437-01A-11D-2310-10		37473258	205726115	7	5212											
CCDC74A	90557	broad.mit.edu	37	chr2	132290264	132290265	+	Frame_Shift_Ins	INS	-	-	C																															cacaccccccaatgatcctgINSccccttcccctgcgaaagcc																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr2:132290264_132290265insC	ENST00000295171.6	+	5	924_925	c.786_787insC	c.(787-789)cccfs	p.P263fs	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Frame_Shift_Ins_p.P197fs	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	263										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAATGATCCTGCCCCTTCCCCT	0.624																																						.											0																																										SO:0001589	frameshift_variant	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.790dupC	2.37:g.132290268_132290268dupC	ENSP00000295171:p.Pro263fs		Q6P4I5	Frame_Shift_Ins	INS	ENST00000295171.6	37	CCDS2167.1																																																																																				0.624	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		C	132290265	-	C	132290264	7	5	52	1	0	1	1	0	0	0	0	0	2847	1306	46	0	804	0	CCDC74A	2	132290264	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	94817006	132290264	110909109	8	5213											
DNAJC13	23317	ucsc.edu	37	chr3	132193881	132193881	+	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	agagcatttaatattgacagAgaacttggaagtgcaaatgt	16	11	10	4	0	0	3	0	1	0	2	0	5	0	4	0	1	3	2	0	1	5	5			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr3:132193881A>G	ENST00000260818.6	+	22	2645	c.2397A>G	c.(2395-2397)agA>agG	p.R799R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	799					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						ATATTGACAGAGAACTTGGAA	0.343																																						.											0													114	123	120					3																	132193881		2203	4300	6503	SO:0001819	synonymous_variant	23317			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.2397A>G	3.37:g.132193881A>G			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	CCDS33857.1																																																																																				0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		G	132193881	A	G	132193881	2	3	52	1	0	0	0	0	0	0	0	1	4632	301	11	2		2	DNAJC13	3	132193881	Silent	SNP	A	TCGA-KN-8437-01A-11D-2310-10		132193881	65828549	9	5214											
CLRN1	7401	broad.mit.edu	37	chr3	150659389	150659389	+	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	ctgaaatgaagctcaaaaggTacagccctaggggaccatgc	14	6	11	10	0	1	2	1	2	0	0	1	3	1	3	2	3	4	2	2	3	6	2			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr3:150659389T>A	ENST00000327047.1	-	2	703	c.413A>T	c.(412-414)tAc>tTc	p.Y138F	RP11-166N6.2_ENST00000469268.1_RNA|RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.T48S|CLRN1_ENST00000328863.4_Missense_Mutation_p.Y138F|CLRN1_ENST00000295911.2_Missense_Mutation_p.Y62F|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	138					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|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)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCTCAAAAGGTACAGCCCTAG	0.388																																						.											0													79	80	79					3																	150659389		2203	4300	6503	SO:0001583	missense	7401			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.413A>T	3.37:g.150659389T>A	ENSP00000322280:p.Tyr138Phe		D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381113	0.61845	.	.	ENSG00000163646	ENST00000295911;ENST00000327047;ENST00000328863;ENST00000468836;ENST00000485607	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.994	D	0.90338	0.4357	10	0.54805	T	0.06	-18.5149	15.1742	0.72899	0.0:0.0:0.0:1.0	.	138;62	P58418;P58418-1	CLRN1_HUMAN;.	F	62;138;138;62;26	ENSP00000295911:Y62F;ENSP00000322280:Y138F;ENSP00000329158:Y138F;ENSP00000419892:Y62F;ENSP00000419244:Y26F	ENSP00000295911:Y62F	Y	-	2	0	CLRN1	152142079	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.852000	0.75430	2.041000	0.60428	0.533000	0.62120	TAC		0.388	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			A	150659389	T	A	150659389	3	1	52	1	0	0	0	0	1	0	0	0	3557	1638	57	5	318	5	CLRN1	3	150659389	Missense_Mutation	SNP	T	TCGA-KN-8437-01A-11D-2310-10	18465508	150659389	47363041	10	5215											
G3BP2	9908	ucsc.edu	37	chr4	76573848	76573848	+	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	cttggtcctctaggaggaaaAccaggtcgttctctaggtcg	8	11	12	10	2	2	0	0	0	2	0	6	2	3	2	2	5	1	1	2	5	4	4			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr4:76573848A>G	ENST00000359707.4	-	9	1688	c.903T>C	c.(901-903)ggT>ggC	p.G301G	G3BP2_ENST00000395719.3_Silent_p.G301G|G3BP2_ENST00000357854.3_Silent_p.G268G	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	301					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TAGGAGGAAAACCAGGTCGTT	0.403																																						.											0													93	84	87					4																	76573848		2203	4300	6503	SO:0001819	synonymous_variant	9908			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.903T>C	4.37:g.76573848A>G			A8K6X1|O60606|O75149|Q9UPA1	Silent	SNP	ENST00000359707.4	37	CCDS3571.1																																																																																				0.403	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		G	76573848	A	G	76573848	2	3	52	1	0	0	0	0	0	0	0	1	6142	30	2	2		2	G3BP2	4	76573848	Silent	SNP	A	TCGA-KN-8437-01A-11D-2310-10		76573848	114580428	11	5216											
C5orf42	65250	ucsc.edu;mdanderson.org	37	chr5	37221454	37221454	+	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	tctttattttcttttacaggTagttgggaccatctcaggat	8	18	8	7	0	3	0	1	0	3	0	4	2	3	2	1	3	1	2	1	3	3	8			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr5:37221454T>A	ENST00000508244.1	-	14	2811	c.2718A>T	c.(2716-2718)ctA>ctT	p.L906L	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Silent_p.L906L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	906						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTTACAGGTAGTTGGGACC	0.363																																						.											0													119	93	101					5																	37221454		692	1591	2283	SO:0001819	synonymous_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2718A>T	5.37:g.37221454T>A			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																				0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		A	37221454	T	A	37221454	2	1	52	1	0	0	0	0	0	0	0	1	2301	1625	57	5		5	C5orf42	5	37221454	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10		37221454	143693806	12	5217											
PAIP2	51247	ucsc.edu	37	chr5	138700258	138700258	+	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	ttattataaatctagatagaAgaggagttatgggaagaaga	18	11	11	1	0	1	5	0	0	1	5	1	7	1	7	0	2	0	1	0	2	10	6			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr5:138700258A>G	ENST00000394795.2	+	3	1135	c.144A>G	c.(142-144)gaA>gaG	p.E48E	PAIP2_ENST00000510080.1_Silent_p.E48E|PAIP2_ENST00000511706.1_Intron|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Silent_p.E48E			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	48	Glu-rich.|PABPC1-interacting motif-1 (PAM1).				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)			TCTAGATAGAAGAGGAGTTAT	0.353																																						.											0													57	58	57					5																	138700258		2203	4300	6503	SO:0001819	synonymous_variant	51247			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.144A>G	5.37:g.138700258A>G			B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Silent	SNP	ENST00000394795.2	37	CCDS4211.1																																																																																				0.353	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		G	138700258	A	G	138700258	2	3	52	1	0	0	0	0	0	0	0	1	11397	69	3	2		2	PAIP2	5	138700258	Silent	SNP	A	TCGA-KN-8437-01A-11D-2310-10	101478804	138700258	42215002	13	5218											
PRSS35	167681	broad.mit.edu	37	chr6	84233685	84233685	+	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	cactgtgttcatgatggaaaGgactatgtcaaagggagtaa	14	10	12	5	0	2	1	2	1	0	0	2	4	2	4	0	3	0	2	0	3	4	3			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr6:84233685G>A	ENST00000369700.3	+	2	702	c.525G>A	c.(523-525)aaG>aaA	p.K175K	PRSS35_ENST00000536636.1_Silent_p.K175K	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	175	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.K175N(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATGATGGAAAGGACTATGTCA	0.478																																						.											1	Substitution - Missense(1)	large_intestine(1)											100	104	103					6																	84233685		2203	4300	6503	SO:0001819	synonymous_variant	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.525G>A	6.37:g.84233685G>A			A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	CCDS4999.1																																																																																				0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		A	84233685	G	A	84233685	2	1	52	1	0	0	0	0	0	0	0	1	12624	991	35	4		4	PRSS35	6	84233685	Silent	SNP	G	TCGA-KN-8437-01A-11D-2310-10		84233685	86881382	14	5219											
IGF2R	3482	broad.mit.edu	37	chr6	160485473	160485473	+	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	acttatgaaaatggcttgttAaaaatgaacttcacgggggg	14	11	11	5	1	1	2	1	2	0	0	1	2	1	2	0	4	1	2	0	4	7	4			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr6:160485473A>T	ENST00000356956.1	+	28	4075	c.3927A>T	c.(3925-3927)ttA>ttT	p.L1309F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1309					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)	ATGGCTTGTTAAAAATGAACT	0.483																																						.											0													111	122	118					6																	160485473		2203	4300	6503	SO:0001583	missense	3482			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.3927A>T	6.37:g.160485473A>T	ENSP00000349437:p.Leu1309Phe		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.841715	0.51057	.	.	ENSG00000197081	ENST00000356956	T	0.05199	3.48	5.48	2.02	0.26589	Mannose-6-phosphate receptor, binding (1);	0.132235	0.47455	D	0.000222	T	0.08582	0.0213	M	0.86028	2.79	0.44234	D	0.997074	D	0.58268	0.982	P	0.60473	0.875	T	0.11372	-1.0590	10	0.41790	T	0.15	-19.3313	0.1485	0.00090	0.2717:0.1596:0.2555:0.3131	.	1309	P11717	MPRI_HUMAN	F	1309	ENSP00000349437:L1309F	ENSP00000349437:L1309F	L	+	3	2	IGF2R	160405463	0.998000	0.40836	0.943000	0.38184	0.408000	0.30992	0.535000	0.23114	0.516000	0.28340	0.533000	0.62120	TTA		0.483	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160485473	A	T	160485473	3	4	52	1	0	0	0	0	1	0	0	0	7576	359	13	5	4037	5	IGF2R	6	160485473	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10	76251788	160485473	10629594	15	5220											
KIAA0415	9907	mdanderson.org	37	chr7	4825307	4825307	+	Missense_Mutation	SNP	T	T	A																															gcccctcgcccacttcttccTgagccacggtgagcccaggg																								rs11772411	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr7:4825307T>A	ENST00000348624.4	+	9	1218	c.1124T>A	c.(1123-1125)cTg>cAg	p.L375Q	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Missense_Mutation_p.L375Q	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	375					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)											CACTTCTTCCTGAGCCACGGT	0.592													T|||	359	0.0716853	0.0091	0.0317	5008	,	,		13424	0.0506		0.0676	False		,,,				2504	0.2106					.											0								T	GLN/LEU	72,4098		0,72,2013	6	7	6		1124	5.6	0.9	7	dbSNP_120	6	528,7844		17,494,3675	no	missense	KIAA0415	NM_014855.2	113	17,566,5688	AA,AT,TT		6.3067,1.7266,4.7839	probably-damaging	375/808	4825307	600,11942	2085	4186	6271	SO:0001583	missense	9907			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.1124T>A	7.37:g.4825307T>A	ENSP00000297562:p.Leu375Gln		Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	98	0.04487179487179487	7	0.014227642276422764	15	0.04143646408839779	30	0.05244755244755245	46	0.06068601583113457	t	16.98	3.271083	0.59540	0.017266	0.063067	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.63417	-0.01;-0.04	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	T	0.36496	0.0969	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.69457	-0.5140	10	0.87932	D	0	.	13.5539	0.61749	0.0:0.0:0.0:1.0	rs11772411	375	O43299	K0415_HUMAN	Q	375	ENSP00000297562:L375Q;ENSP00000384980:L375Q	ENSP00000297562:L375Q	L	+	2	0	KIAA0415	4791833	1.000000	0.71417	0.879000	0.34478	0.057000	0.15508	7.654000	0.83653	2.141000	0.66446	0.454000	0.30748	CTG		0.592	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			A	4825307	T	A	4825307	3	1	52	1	0	0	0	0	1	0	0	0	8175	1580	55	5	1158	5	KIAA0415	7	4825307	Missense_Mutation	SNP	T	TCGA-KN-8437-01A-11D-2310-10		4825307	154313356	16	5221	132	2									
KIAA0415	9907	mdanderson.org	37	chr7	4825314	4825314	+	Splice_Site	SNP	C	C	T																															gcccacttcttcctgagccaCggtgagcccagggtggggtg																								rs11768079	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr7:4825314C>T	ENST00000348624.4	+	9	1225	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Splice_Site_p.H377H	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	377					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)											TCCTGAGCCACGGTGAGCCCA	0.582													C|||	359	0.0716853	0.0091	0.0317	5008	,	,		13363	0.0506		0.0676	False		,,,				2504	0.2106					.											0								C		75,4103		0,75,2014	6	6	6		1131	-0.4	0.9	7	dbSNP_120	6	532,7858		19,494,3682	yes	coding-synonymous-near-splice	KIAA0415	NM_014855.2		19,569,5696	TT,TC,CC		6.3409,1.7951,4.8297		377/808	4825314	607,11961	2089	4195	6284	SO:0001630	splice_region_variant	9907			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.1132+1C>T	7.37:g.4825314C>T			Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	CCDS47528.1																																																																																				0.582	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		Silent	T	4825314	C	T	4825314	5	4	52	1	0	0	0	0	0	0	1	0	8175	550	19	1	1165	1	KIAA0415	7	4825314	Splice_Site	SNP	C	TCGA-KN-8437-01A-11D-2310-10	7	4825314	154313349	17	5222	132	2									
SPDYE6	0	broad.mit.edu	37	chr7	101988975	101988976	+	IGR	DEL	TG	TG	-																															tatgcgagagcggttcttccTggccctcgggttcatggaat																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr7:101988975_101988976delTG								Y_RNA (11593 upstream) : PRKRIP1 (15367 downstream)																							CGGTTCTTCCTGGCCCTCGGGT	0.545																																						.											0																																										SO:0001628	intergenic_variant	729597																															7.37:g.101988975_101988976delTG				Frame_Shift_Del	DEL		37																																																																																				0	0.545									-	101988976	TG	-	101988975	6	5	52	0	1	1	0	1	0	0	0	0	15032	1579	55	0		0	SPDYE6	7	101988975	IGR	DEL	TG	TCGA-KN-8437-01A-11D-2310-10	97163661	101988975	57149688	18	5223											
CCNE2	9134	hgsc.bcm.edu	37	chr8	95897417	95897417	+	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	gattgttacaggacaaagttCccattttaaagcctattaaa	15	13	6	7	0	0	0	0	0	0	0	1	2	1	1	2	1	2	2	2	1	7	7	rs549362026		TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr8:95897417C>T	ENST00000520509.1	-	9	961	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000308108.4_Missense_Mutation_p.E237K|CCNE2_ENST00000396133.3_Missense_Mutation_p.E237K|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	237					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGACAAAGTTCCCATTTTAAA	0.358													C|||	1	0.000199681	0	0.0014	5008	,	,		18526	0		0	False		,,,				2504	0					.											0													70	74	73					8																	95897417		2203	4297	6500	SO:0001583	missense	9134			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.709G>A	8.37:g.95897417C>T	ENSP00000429089:p.Glu237Lys		O95439	Missense_Mutation	SNP	ENST00000520509.1	37	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175750	0.57692	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.11063	2.81;2.81;2.81	5.58	4.68	0.58851	Cyclin, N-terminal (1);Cyclin-like (2);	0.134136	0.64402	D	0.000002	T	0.15609	0.0376	L	0.39397	1.21	0.58432	D	0.999991	B;P	0.50528	0.425;0.936	B;P	0.50082	0.159;0.63	T	0.04413	-1.0953	10	0.22109	T	0.4	.	16.0982	0.81144	0.0:0.8658:0.1342:0.0	.	237;237	Q8WUE3;O96020	.;CCNE2_HUMAN	K	237;237;129;237	ENSP00000429089:E237K;ENSP00000309181:E237K;ENSP00000379437:E237K	ENSP00000309181:E237K	E	-	1	0	CCNE2	95966593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.803000	0.47924	1.289000	0.44618	0.650000	0.86243	GAA		0.358	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		T	95897417	C	T	95897417	3	4	52	1	0	0	0	0	1	0	0	0	2921	864	30	3	521	3	CCNE2	8	95897417	Missense_Mutation	SNP	C	TCGA-KN-8437-01A-11D-2310-10		95897417	50466605	19	5224											
CBWD6	644019	broad.mit.edu	37	chr9	69256826	69256827	+	Frame_Shift_Ins	INS	-	-	C																															gaggcaaccgtttctaagttINSccagccactcttcatagagc																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr9:69256826_69256827insC	ENST00000377457.5	-	3	409_410	c.304_305insG	c.(304-306)gaafs	p.E102fs	CBWD6_ENST00000382399.4_Frame_Shift_Ins_p.E102fs|CBWD6_ENST00000377449.1_Frame_Shift_Ins_p.E66fs|CBWD6_ENST00000377441.1_Frame_Shift_Ins_p.E102fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	102							ATP binding (GO:0005524)			lung(4)	4						GTTTCTAAGTTCCAGCCACTCT	0.376																																						.											0																																										SO:0001589	frameshift_variant	644019				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.305dupG	9.37:g.69256828_69256828dupC	ENSP00000366677:p.Glu102fs			Frame_Shift_Ins	INS	ENST00000377457.5	37	CCDS43827.1																																																																																				0.376	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		C	69256827	-	C	69256826	7	5	52	1	0	1	1	0	0	0	0	0	2716	1783	62	0	934	0	CBWD6	9	69256826	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10		69256826	71956605	20	5225											
KIAA1274	27143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr10	72293731	72293731	+	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	cacgggcctcccccagccctCgtcttcagctgccagatggg	5	7	11	18	2	2	1	1	0	1	1	4	1	3	1	5	2	3	1	5	2	0	1			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr10:72293731C>G	ENST00000263563.6	+	8	1192	c.924C>G	c.(922-924)ctC>ctG	p.L308L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	308						cytosol (GO:0005829)											CCCCAGCCCTCGTCTTCAGCT	0.657																																						.											0													36	33	34					10																	72293731		2203	4300	6503	SO:0001819	synonymous_variant	27143			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.924C>G	10.37:g.72293731C>G			B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	CCDS31215.1																																																																																				0.657	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		G	72293731	C	G	72293731	2	3	52	1	0	0	0	0	0	0	0	1	8220	871	31	5		5	KIAA1274	10	72293731	Silent	SNP	C	TCGA-KN-8437-01A-11D-2310-10		72293731	63241016	21	5226											
DDIT4	54541	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	74034518	74034518	+	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	tcagtgaccctgaggatgaaCacttgtgtgccaacctgatg	10	10	11	10	0	1	4	1	4	0	0	1	5	1	5	3	1	3	0	3	1	2	1			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr10:74034518C>A	ENST00000307365.3	+	3	472	c.271C>A	c.(271-273)Cac>Aac	p.H91N	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	91					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						TGAGGATGAACACTTGTGTGC	0.617											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													124	124	124					10																	74034518		2203	4300	6503	SO:0001583	missense	54541			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.271C>A	10.37:g.74034518C>A	ENSP00000307305:p.His91Asn	1149	Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890774	0.33348	.	.	ENSG00000168209	ENST00000307365	T	0.41400	1.0	5.08	5.08	0.68730	.	0.414258	0.28790	N	0.014133	T	0.27731	0.0682	N	0.14661	0.345	0.33043	D	0.531739	B	0.26744	0.158	B	0.24394	0.053	T	0.20174	-1.0283	10	0.15066	T	0.55	-20.3523	18.1098	0.89532	0.0:1.0:0.0:0.0	.	91	Q9NX09	DDIT4_HUMAN	N	91	ENSP00000307305:H91N	ENSP00000307305:H91N	H	+	1	0	DDIT4	73704524	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.432000	0.52824	2.359000	0.80004	0.561000	0.74099	CAC		0.617	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		A	74034518	C	A	74034518	3	1	52	1	0	0	0	0	1	0	0	0	4331	478	17	5	277	5	DDIT4	10	74034518	Missense_Mutation	SNP	C	TCGA-KN-8437-01A-11D-2310-10	1740787	74034518	61500229	22	5227											
OTUB1	55611	bcgsc.ca	37	chr11	63756163	63756163	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgtcagagcggctggAgctctcggtcctatacaagg	7	10	14	10	2	3	1	1	0	2	1	5	2	4	2	1	5	3	2	1	5	3	2			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr11:63756163A>G	ENST00000538426.1	+	3	202	c.158A>G	c.(157-159)gAg>gGg	p.E53G	OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000428192.2_Missense_Mutation_p.E53G|OTUB1_ENST00000543988.1_Missense_Mutation_p.E23G|OTUB1_ENST00000536443.1_3'UTR|OTUB1_ENST00000535715.1_Missense_Mutation_p.E53G|OTUB1_ENST00000422031.2_Missense_Mutation_p.E90G|OTUB1_ENST00000543004.1_Missense_Mutation_p.E62G	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	53					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GAGCGGCTGGAGCTCTCGGTC	0.562																																						.											0													110	111	111					11																	63756163		2201	4297	6498	SO:0001583	missense	55611			AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.158A>G	11.37:g.63756163A>G	ENSP00000444357:p.Glu53Gly		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589609	0.66105	.	.	ENSG00000167770	ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.49	4.35	0.52113	.	.	.	.	.	T	0.37433	0.1003	L	0.58669	1.825	0.40960	D	0.984618	P;P	0.38473	0.633;0.633	B;B	0.35971	0.215;0.162	T	0.29212	-1.0019	9	0.54805	T	0.06	.	9.2666	0.37645	0.916:0.0:0.084:0.0	.	90;53	B4DPD5;Q96FW1	.;OTUB1_HUMAN	G	53;53;90;53;62;23	ENSP00000440211:E53G;ENSP00000402551:E53G;ENSP00000416973:E90G;ENSP00000444357:E53G;ENSP00000437453:E62G;ENSP00000441328:E23G	ENSP00000416973:E90G	E	+	2	0	OTUB1	63512739	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	6.254000	0.72460	1.024000	0.39682	0.482000	0.46254	GAG		0.562	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		G	63756163	A	G	63756163	3	3	52	1	0	0	0	0	1	0	0	0	11311	304	11	2	168	2	OTUB1	11	63756163	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10		63756163	71250353	23	5228											
SHANK2	22941	broad.mit.edu	37	chr11	70824380	70824381	+	In_Frame_Ins	INS	-	-	TTT																															tgtttctcatcgagactggcINSttgtttatacacccgcttct																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr11:70824380_70824381insTTT	ENST00000338508.4	-	3	440_441	c.441_442insAAA	c.(439-444)caagcc>caaAAAgcc	p.147_148QA>QKA				Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0	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)			TCGAGACTGGCTTGTTTATACA	0.465																																						.											0																																										SO:0001652	inframe_insertion	22941			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	ENST00000338508.4:c.441_442insAAA	11.37:g.70824380_70824381insTTT	ENSP00000345193:p.Gln147_Ala148insLys		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	In_Frame_Ins	INS	ENST00000338508.4	37																																																																																					0.465	SHANK2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012309		TTT	70824381	-	TTT	70824380	7	5	52	1	0	1	1	0	0	0	0	0	14265	797	28	0	5085	0	SHANK2	11	70824380	In_Frame_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	7068217	70824380	64182136	24	5229											
ROBO3	64221	broad.mit.edu	37	chr11	124739923	124739924	+	Frame_Shift_Ins	INS	-	-	G																															tgcgtagcctccaacatggcINSgggagaacgggagagtgcgg																								rs115272137	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr11:124739923_124739924insG	ENST00000397801.1	+	4	917_918	c.725_726insG	c.(724-729)gcgggafs	p.AG242fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.AG220fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	242	Ig-like C2-type 2.				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)		TCCAACATGGCGGGAGAACGGG	0.525																																						.											0																																										SO:0001589	frameshift_variant	64221			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.728dupG	11.37:g.124739926_124739926dupG	ENSP00000380903:p.Ala242fs			Frame_Shift_Ins	INS	ENST00000397801.1	37	CCDS44755.1																																																																																				0.525	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		G	124739924	-	G	124739923	7	5	52	1	0	1	1	0	0	0	0	0	13515	768	27	0	739	0	ROBO3	11	124739923	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	53915543	124739923	10266593	25	5230											
DPPA3	359787	broad.mit.edu	37	chr12	7869647	7869648	+	Frame_Shift_Ins	INS	-	-	A																															gaatgctagaatagggaatcINSaagacaccaagccacttcag																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr12:7869647_7869648insA	ENST00000345088.2	+	4	571_572	c.454_455insA	c.(454-456)caafs	p.Q152fs		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	152					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AATAGGGAATCAAGACACCAAG	0.376																																						.											0																																										SO:0001589	frameshift_variant	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.456dupA	12.37:g.7869649_7869649dupA	ENSP00000339250:p.Gln152fs		Q0P5U3|Q6JZS6	Frame_Shift_Ins	INS	ENST00000345088.2	37	CCDS8582.1																																																																																				0.376	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		A	7869648	-	A	7869647	7	5	52	1	0	1	1	0	0	0	0	0	4735	827	29	0	468	0	DPPA3	12	7869647	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10		7869647	125982248	26	5231											
RPAP3	79657	broad.mit.edu	37	chr12	48095315	48095315	+	Frame_Shift_Del	DEL	T	T	-																															ttttgtgttttcctctctggTttttttggaagactctttag																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr12:48095315delT	ENST00000005386.3	-	3	341	c.226delA	c.(226-228)accfs	p.T76fs	RPAP3_ENST00000380650.4_Frame_Shift_Del_p.T76fs|RPAP3_ENST00000432584.3_5'UTR	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	76										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCCTCTCTGGTTTTTTTGGAA	0.323																																						.											0													181	172	175					12																	48095315		2202	4299	6501	SO:0001589	frameshift_variant	79657			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.226delA	12.37:g.48095315delT	ENSP00000005386:p.Thr76fs		B4DRW9|Q6PHR5	Frame_Shift_Del	DEL	ENST00000005386.3	37	CCDS8753.1																																																																																				0.323	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		-	48095315	T	-	48095315	7	5	52	1	0	1	0	1	0	0	0	0	13543	1725	60	0	1831	0	RPAP3	12	48095315	Frame_Shift_Del	DEL	T	TCGA-KN-8437-01A-11D-2310-10	40225668	48095315	85756580	27	5232											
AHNAK2	113146	mdanderson.org	37	chr14	105410382	105410382	+	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	ttgaacttgggcattttgaaTttgctgtctttggcagtcac	7	17	10	7	0	2	2	1	2	1	0	2	2	2	2	0	2	2	3	0	2	2	6	rs201817721	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr14:105410382T>C	ENST00000333244.5	-	7	11525	c.11406A>G	c.(11404-11406)aaA>aaG	p.K3802K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3802						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)			GCATTTTGAATTTGCTGTCTT	0.587													.|||	118	0.0235623	0.0401	0.0058	5008	,	,		20893	0.0268		0	False		,,,				2504	0.0348					.											0													252	250	250					14																	105410382		1990	4160	6150	SO:0001819	synonymous_variant	113146			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.11406A>G	14.37:g.105410382T>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105410382	T	C	105410382	2	2	52	1	0	0	0	0	0	0	0	1	415	1490	52	4		4	AHNAK2	14	105410382	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10		105410382	1939158	28	5233											
LCTL	197021	ucsc.edu	37	chr15	66840924	66840924	+	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	acgatctccgtaaccatttgCatgtgacttagcaagggctc	10	11	9	11	2	1	1	0	1	1	0	3	2	1	1	2	1	3	4	2	1	3	3			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr15:66840924C>T	ENST00000341509.5	-	13	1739	c.1608G>A	c.(1606-1608)atG>atA	p.M536I	LCTL_ENST00000537670.1_Missense_Mutation_p.M363I|ZWILCH_ENST00000446801.2_3'UTR|ZWILCH_ENST00000307897.5_3'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	536					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAACCATTTGCATGTGACTTA	0.458																																						.											0													124	114	117					15																	66840924		2201	4299	6500	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1608G>A	15.37:g.66840924C>T	ENSP00000343490:p.Met536Ile		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701984	0.30232	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.30182	1.74;1.54	5.6	4.67	0.58626	.	0.082404	0.85682	N	0.000000	T	0.24851	0.0603	L	0.29908	0.895	0.58432	D	0.999997	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.02269	-1.1185	10	0.37606	T;T	0.19;0.19	-24.6251	15.4825	0.75539	0.0:0.8609:0.1391:0.0	.	363;536	B3KQY0;Q6UWM7	.;LCTL_HUMAN	I	363;536	ENSP00000445419:M363I;ENSP00000343490:M536I	ENSP00000343490:M536I;ENSP00000343490:M536I	M	-	3	0	LCTL	64627978	1.000000	0.71417	0.995000	0.50966	0.095000	0.18619	7.016000	0.76393	1.337000	0.45525	0.655000	0.94253	ATG		0.458	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		T	66840924	C	T	66840924	3	4	52	1	0	0	0	0	1	0	0	0	8694	710	25	4	99	4	LCTL	15	66840924	Missense_Mutation	SNP	C	TCGA-KN-8437-01A-11D-2310-10		66840924	35690468	29	5234											
TLE3	7090	broad.mit.edu	37	chr15	70386891	70386892	+	Frame_Shift_Ins	INS	-	-	A																															tgcttgtgcatttcaatgttINScaagccataggacatctcat																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr15:70386891_70386892insA	ENST00000558939.1	-	4	1590_1591	c.213_214insT	c.(211-216)ttgaacfs	p.N72fs	TLE3_ENST00000317509.8_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.N78fs|TLE3_ENST00000560589.1_Frame_Shift_Ins_p.N16fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000559574.1_5'Flank|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.N78fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000539550.1_Frame_Shift_Ins_p.N6fs|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000440567.3_Frame_Shift_Ins_p.N65fs|TLE3_ENST00000442299.2_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.N72fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.N78fs	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	72	Gln-rich.				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						ATTTCAATGTTCAAGCCATAGG	0.287																																						.											0																																										SO:0001589	frameshift_variant	7090			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.213_214insT	15.37:g.70386891_70386892insA	ENSP00000452871:p.Asn72fs		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Nonsense_Mutation	INS	ENST00000558939.1	37	CCDS45293.1																																																																																				0.287	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		A	70386892	-	A	70386891	7	5	52	1	0	1	1	0	0	0	0	0	15937	1783	62	0	2172	0	TLE3	15	70386891	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	3545967	70386891	32144501	30	5235											
CLUAP1	23059	hgsc.bcm.edu	37	chr16	3586166	3586166	+	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	gacatggaagatgatgatgaCgaggatgacgatttggaaga	15	8	15	3	2	0	6	0	4	0	2	0	12	0	9	0	3	0	0	0	3	2	1	rs377189683		TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr16:3586166C>T	ENST00000576634.1	+	12	1281	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000301749.7_RNA|CLUAP1_ENST00000417763.2_Silent_p.D213D|NLRC3_ENST00000419350.2_RNA|CLUAP1_ENST00000341633.5_Silent_p.D398D|CLUAP1_ENST00000571025.1_3'UTR|NLRC3_ENST00000448023.2_RNA|CLUAP1_ENST00000572600.1_Silent_p.D213D|CLUAP1_ENST00000445795.2_Silent_p.D157D	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	379	Asp-rich.				cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.D379D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATGATGATGACGAGGATGACG	0.483																																						.											1	Substitution - coding silent(1)	large_intestine(1)											125	111	116					16																	3586166		2197	4300	6497	SO:0001819	synonymous_variant	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.1137C>T	16.37:g.3586166C>T			O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	CCDS32381.1																																																																																				0.483	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		T	3586166	C	T	3586166	2	4	52	1	0	0	0	0	0	0	0	1	3569	535	19	1		1	CLUAP1	16	3586166	Silent	SNP	C	TCGA-KN-8437-01A-11D-2310-10		3586166	86768587	31	5236											
OTOA	146183	broad.mit.edu	37	chr16	21698797	21698797	+	Missense_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	gagccttgcagagccctggcGtgaaccgcagcctgtttctc	6	9	12	14	2	1	2	0	1	1	1	2	3	1	2	4	1	5	3	4	1	1	2			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr16:21698797G>A	ENST00000286149.4	+	7	464	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	OTOA_ENST00000388956.4_Missense_Mutation_p.V76M|OTOA_ENST00000388958.3_Missense_Mutation_p.V155M			Q7RTW8	OTOAN_HUMAN	otoancorin	155					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGCCCTGGCGTGAACCGCAG	0.542																																						.											0													125	116	119					16																	21698797		2199	4300	6499	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.463G>A	16.37:g.21698797G>A	ENSP00000286149:p.Val155Met		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	G	17.69	3.452811	0.63290	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.15487	2.42;2.42;2.42	4.91	3.95	0.45737	.	0.258322	0.30492	N	0.009503	T	0.32734	0.0839	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64237	0.923;0.923	T	0.02668	-1.1126	10	0.54805	T	0.06	-15.1079	10.6677	0.45741	0.0939:0.0:0.9061:0.0	.	76;155	B3KWU3;E9PF51	.;.	M	155;155;76	ENSP00000373610:V155M;ENSP00000286149:V155M;ENSP00000373608:V76M	ENSP00000286149:V155M	V	+	1	0	OTOA	21606298	0.987000	0.35691	0.836000	0.33094	0.996000	0.88848	1.928000	0.40104	1.054000	0.40438	0.650000	0.86243	GTG		0.542	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			A	21698797	G	A	21698797	3	1	52	1	0	0	0	0	1	0	0	0	11302	1145	40	1	523	1	OTOA	16	21698797	Missense_Mutation	SNP	G	TCGA-KN-8437-01A-11D-2310-10	18112631	21698797	68655956	32	5237											
ZNF668	79759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	31073370	31073370	+	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	cgctggtggcgacggaagctCgaggggtcggagaacatgcg	8	5	19	9	6	0	1	0	0	0	1	2	5	0	2	0	6	3	2	0	6	2	0			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr16:31073370C>G	ENST00000538906.1	-	3	1663	c.879G>C	c.(877-879)tcG>tcC	p.S293S	ZNF668_ENST00000426488.2_Silent_p.S316S|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000539836.3_Silent_p.S316S|ZNF668_ENST00000300849.4_Silent_p.S293S|ZNF668_ENST00000535577.1_Silent_p.S293S|ZNF668_ENST00000394983.2_Silent_p.S293S|ZNF668_ENST00000417110.2_Silent_p.L186L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	293					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						GACGGAAGCTCGAGGGGTCGG	0.677																																					Colon(181;1111 1980 5060 10512 25785)	.											0													37	36	36					16																	31073370		2197	4298	6495	SO:0001819	synonymous_variant	79759				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.879G>C	16.37:g.31073370C>G			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	CCDS10701.1																																																																																				0.677	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		G	31073370	C	G	31073370	2	3	52	1	0	0	0	0	0	0	0	1	18072	871	31	5		5	ZNF668	16	31073370	Silent	SNP	C	TCGA-KN-8437-01A-11D-2310-10	9374573	31073370	59281383	33	5238											
SLC2A4	6517	broad.mit.edu	37	chr17	7186903	7186903	+	Missense_Mutation	SNP	T	T	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	gggccctctccgtggccatcTtttccgtgggcggcatgatt	3	12	13	13	3	2	1	0	1	2	0	4	1	3	1	4	4	0	1	4	4	0	3			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:7186903T>C	ENST00000317370.8	+	3	530	c.262T>C	c.(262-264)Ttt>Ctt	p.F88L	SLC2A4_ENST00000424875.2_Missense_Mutation_p.F78L|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.F88L	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	88					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGTGGCCATCTTTTCCGTGGG	0.622																																						.											0													106	105	105					17																	7186903		2203	4300	6503	SO:0001583	missense	6517			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.262T>C	17.37:g.7186903T>C	ENSP00000320935:p.Phe88Leu		Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519126	0.85495	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.74526	0.12;-0.85	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	L	0.53729	1.69	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;P	0.75020	0.985;0.88	D	0.83584	0.0119	10	0.62326	D	0.03	.	13.256	0.60079	0.0:0.0:0.0:1.0	.	88;78	P14672;F5H081	GTR4_HUMAN;.	L	88;78	ENSP00000320935:F88L;ENSP00000396887:F78L	ENSP00000320935:F88L	F	+	1	0	SLC2A4	7127627	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.525000	0.81892	2.234000	0.73211	0.459000	0.35465	TTT		0.622	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			C	7186903	T	C	7186903	3	2	52	1	0	0	0	0	1	0	0	0	14546	1609	56	2	272	2	SLC2A4	17	7186903	Missense_Mutation	SNP	T	TCGA-KN-8437-01A-11D-2310-10		7186903	74008307	34	5239											
STXBP4	252983	broad.mit.edu	37	chr17	53077156	53077156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatactaatcccaaagAcctcatccactcccaaaaca	17	7	2	15	0	1	2	1	1	0	1	4	2	4	2	4	0	2	0	4	0	6	2			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:53077156A>G	ENST00000376352.2	+	6	658	c.451A>G	c.(451-453)Acc>Gcc	p.T151A	STXBP4_ENST00000398391.2_Missense_Mutation_p.T76A|STXBP4_ENST00000405898.1_Missense_Mutation_p.T151A|STXBP4_ENST00000434978.2_Missense_Mutation_p.T151A|STXBP4_ENST00000299341.4_Missense_Mutation_p.T76A	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	151					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATCCCAAAGACCTCATCCAC	0.353																																						.											0													84	81	82					17																	53077156		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.451A>G	17.37:g.53077156A>G	ENSP00000365530:p.Thr151Ala		Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256374	0.39896	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.35	3.15	0.36227	.	0.702796	0.14653	N	0.306480	T	0.33498	0.0865	M	0.70595	2.14	0.27885	N	0.939557	B;P;B	0.40230	0.329;0.708;0.323	B;B;B	0.43274	0.113;0.414;0.114	T	0.14504	-1.0470	10	0.27082	T	0.32	-0.0072	6.5428	0.22390	0.8135:0.0:0.1865:0.0	.	151;76;151	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	A	151;76;151;151;76	ENSP00000365530:T151A;ENSP00000299341:T76A;ENSP00000385944:T151A;ENSP00000391087:T151A;ENSP00000381427:T76A	ENSP00000299341:T76A	T	+	1	0	STXBP4	50432155	1.000000	0.71417	0.942000	0.38095	0.995000	0.86356	2.090000	0.41682	0.489000	0.27749	0.533000	0.62120	ACC		0.353	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		G	53077156	A	G	53077156	3	3	52	1	0	0	0	0	1	0	0	0	15354	275	10	2	465	2	STXBP4	17	53077156	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10	45890253	53077156	28118054	35	5240											
MFSD11	79157	hgsc.bcm.edu	37	chr17	74765928	74765928	+	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	cttattggactttctggcatTttcatcggcattggagaaat	9	16	9	7	1	2	1	1	0	1	1	3	3	2	2	0	4	0	2	0	4	2	6			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:74765928T>C	ENST00000588460.1	+	10	2891	c.849T>C	c.(847-849)atT>atC	p.I283I	MFSD11_ENST00000590514.1_Silent_p.I283I|MFSD11_ENST00000593181.1_Silent_p.I231I|MFSD11_ENST00000355954.3_Silent_p.I231I|MFSD11_ENST00000586622.1_Silent_p.I283I|MFSD11_ENST00000336509.4_Silent_p.I283I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	283						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTCTGGCATTTTCATCGGCA	0.318																																						.											0													142	151	148					17																	74765928		2203	4300	6503	SO:0001819	synonymous_variant	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.849T>C	17.37:g.74765928T>C			O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	CCDS11750.1																																																																																				0.318	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		C	74765928	T	C	74765928	2	2	52	1	0	0	0	0	0	0	0	1	9529	1829	64	4		4	MFSD11	17	74765928	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10	21688772	74765928	6429282	36	5241											
EIF4A3	9775	bcgsc.ca	37	chr17	78109803	78109803	+	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	agagctggacgatttcctacCgttcatcggcatctcatcaa	10	11	8	12	3	3	1	3	0	1	1	6	3	4	2	2	2	2	3	2	2	2	3			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:78109803C>T	ENST00000269349.3	-	11	1440	c.1219G>A	c.(1219-1221)Gtt>Att	p.V407I		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	407	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|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 translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GATTTCCTACCGTTCATCGGC	0.428																																						.											0													114	107	110					17																	78109803		2203	4300	6503	SO:0001630	splice_region_variant	9775			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.1219+1G>A	17.37:g.78109803C>T			Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034577	0.35893	.	.	ENSG00000141543	ENST00000269349	T	0.27104	1.69	3.64	3.64	0.41730	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09069	0.0224	N	0.01482	-0.84	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16660	-1.0395	9	.	.	.	.	12.8311	0.57746	0.0:1.0:0.0:0.0	.	407	P38919	IF4A3_HUMAN	I	407	ENSP00000269349:V407I	.	V	-	1	0	EIF4A3	75724398	1.000000	0.71417	0.972000	0.41901	0.469000	0.32828	7.212000	0.77941	1.878000	0.54408	0.484000	0.47621	GTT		0.428	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740	Missense_Mutation	T	78109803	C	T	78109803	5	4	52	1	0	0	0	0	0	0	1	0	5026	666	23	1	24	1	EIF4A3	17	78109803	Splice_Site	SNP	C	TCGA-KN-8437-01A-11D-2310-10	3343875	78109803	3085407	37	5242											
ZNF521	25925	broad.mit.edu;hgsc.bcm.edu	37	chr18	22930911	22930911	+	5'UTR	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	gcttgcttgcggcgagacatCctaaaagcaaacagctgaag	13	7	11	10	2	0	2	0	1	0	1	1	3	1	2	1	1	5	4	1	1	4	3			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr18:22930911C>A	ENST00000361524.3	-	0	148				ZNF521_ENST00000584787.1_Intron|ZNF521_ENST00000538137.2_5'UTR|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCGAGACATCCTAAAAGCAA	0.607			T	PAX5	ALL																																	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													53	53	53					18																	22930911		2149	4207	6356	SO:0001623	5_prime_UTR_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.-1G>T	18.37:g.22930911C>A			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Splice_Site	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																				0.607	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		A	22930911	C	A	22930911	1	1	52	0	1	0	0	0	0	0	0	0	17962	869	30	5		5	ZNF521	18	22930911	5'UTR	SNP	C	TCGA-KN-8437-01A-11D-2310-10		22930911	55146337	38	5243											
BRD4	23476	mdanderson.org	37	chr19	15350594	15350594	+	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	ttctcctccttcaccaccacGaggggctggggctggaccac	6	8	11	16	1	2	0	1	0	1	0	4	2	3	1	5	5	0	2	5	5	0	2	rs11669901	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr19:15350594G>A	ENST00000263377.2	-	16	3542	c.3321C>T	c.(3319-3321)ctC>ctT	p.L1107L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1107	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)			TCACCACCACGAGGGGCTGGG	0.701			T	C15orf55	lethal midline carcinoma of young people								G|||	661	0.131989	0.1362	0.1009	5008	,	,		14853	0.0615		0.1879	False		,,,				2504	0.1636					.		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0								G		600,3806	255.8+/-260.9	51,498,1654	40	45	43		3321	2	1	19	dbSNP_120	43	1498,7102	279.3+/-293.9	133,1232,2935	no	coding-synonymous	BRD4	NM_058243.2		184,1730,4589	AA,AG,GG		17.4186,13.6178,16.131		1107/1363	15350594	2098,10908	2203	4300	6503	SO:0001819	synonymous_variant	23476			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.3321C>T	19.37:g.15350594G>A			O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	CCDS12328.1																																																																																				0.701	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		A	15350594	G	A	15350594	2	1	52	1	0	0	0	0	0	0	0	1	1504	1045	37	1		1	BRD4	19	15350594	Silent	SNP	G	TCGA-KN-8437-01A-11D-2310-10		15350594	43778389	39	5244											
ZNF345	25850	hgsc.bcm.edu	37	chr19	37368304	37368304	+	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	ttttgaatcagcccttattcGgcatcacagaattcacacag	12	12	6	11	1	3	2	3	1	0	1	4	2	3	2	1	1	1	1	1	1	3	5	rs199871319		TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr19:37368304G>T	ENST00000529555.1	+	2	1360	c.572G>T	c.(571-573)cGg>cTg	p.R191L	ZNF345_ENST00000420450.1_Missense_Mutation_p.R191L|ZNF345_ENST00000589046.1_Missense_Mutation_p.R191L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	191					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCCTTATTCGGCATCACAGA	0.428																																						.											0													66	63	64					19																	37368304		2203	4300	6503	SO:0001583	missense	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.572G>T	19.37:g.37368304G>T	ENSP00000431202:p.Arg191Leu			Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	7.717	0.696334	0.15106	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.34667	1.35;1.35	3.86	0.409	0.16382	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21921	0.0528	L	0.33624	1.015	0.09310	N	1	B	0.27679	0.185	B	0.22880	0.042	T	0.19224	-1.0312	8	.	.	.	.	5.1742	0.15126	0.2137:0.1775:0.6088:0.0	.	191	Q14585	ZN345_HUMAN	L	191	ENSP00000431216:R191L;ENSP00000431202:R191L	.	R	+	2	0	ZNF345	42060144	0.000000	0.05858	0.997000	0.53966	0.969000	0.65631	-2.856000	0.00729	0.361000	0.24292	0.561000	0.74099	CGG		0.428	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			T	37368304	G	T	37368304	3	4	52	1	0	0	0	0	1	0	0	0	17856	1116	39	5	574	5	ZNF345	19	37368304	Missense_Mutation	SNP	G	TCGA-KN-8437-01A-11D-2310-10	22017710	37368304	21760679	40	5245											
PSG6	5675	mdanderson.org	37	chr19	43411778	43411778	+	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	ggatgccaccatatcggtccCgtatttcacattgatagggt	9	12	10	10	2	1	1	1	1	0	0	3	2	2	2	3	3	1	1	3	3	3	5	rs151146504	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr19:43411778C>T	ENST00000292125.2	-	4	979	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.R312Q	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	312	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)				ATATCGGTCCCGTATTTCACA	0.502													.|||	6	0.00119808	0	0.0029	5008	,	,		21760	0		0.004	False		,,,				2504	0					.											0													158	144	149					19																	43411778		2202	4295	6497	SO:0001583	missense	5675				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.935G>A	19.37:g.43411778C>T	ENSP00000292125:p.Arg312Gln		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	4.566	0.105064	0.08731	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.12672	2.66;2.66	1.42	0.312	0.15837	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03871	0.0109	N	0.01618	-0.8	0.09310	N	1	D;B	0.54772	0.968;0.09	B;B	0.41236	0.351;0.045	T	0.22730	-1.0208	9	0.37606	T	0.19	.	3.255	0.06828	0.0:0.7031:0.0:0.2969	.	312;312	Q00889;Q00889-2	PSG6_HUMAN;.	Q	312	ENSP00000187910:R312Q;ENSP00000292125:R312Q	ENSP00000187910:R312Q	R	-	2	0	PSG6	48103618	0.000000	0.05858	0.007000	0.13788	0.019000	0.09904	-0.820000	0.04457	0.792000	0.33850	0.134000	0.15878	CGG		0.502	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		T	43411778	C	T	43411778	3	4	52	1	0	0	0	0	1	0	0	0	12659	652	23	1	423	1	PSG6	19	43411778	Missense_Mutation	SNP	C	TCGA-KN-8437-01A-11D-2310-10	6043474	43411778	15717205	41	5246											
CBR1	873	broad.mit.edu	37	chr21	37443310	37443310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaaacaaatttctttggtAcccgagatgtgtgcacagaa	14	11	9	7	1	1	3	0	1	1	2	1	4	1	3	1	1	3	2	1	1	5	3			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr21:37443310A>G	ENST00000290349.6	+	2	527	c.352A>G	c.(352-354)Acc>Gcc	p.T118A	AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000466328.2_3'UTR|CBR1_ENST00000399191.3_Missense_Mutation_p.T118A|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000439427.2_Missense_Mutation_p.T118A|CBR1_ENST00000530908.1_Missense_Mutation_p.T118A	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	118					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	TTTCTTTGGTACCCGAGATGT	0.433																																						.											0													114	102	106					21																	37443310		2203	4300	6503	SO:0001583	missense	873				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1548	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 1"	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.352A>G	21.37:g.37443310A>G	ENSP00000290349:p.Thr118Ala		B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745192	0.49151	.	.	ENSG00000159228	ENST00000530908;ENST00000290349;ENST00000439427;ENST00000399191	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	5.76	5.76	0.90799	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80407	0.4617	L	0.33668	1.02	0.80722	D	1	P;B;B	0.38300	0.626;0.408;0.285	B;B;B	0.38156	0.266;0.256;0.198	T	0.81189	-0.1046	10	0.48119	T	0.1	-18.8594	16.0766	0.80971	1.0:0.0:0.0:0.0	.	118;118;118	B4DFK7;E9PQ63;P16152	.;.;CBR1_HUMAN	A	118	ENSP00000434613:T118A;ENSP00000290349:T118A;ENSP00000395132:T118A;ENSP00000382143:T118A	ENSP00000290349:T118A	T	+	1	0	CBR1	36365180	1.000000	0.71417	0.764000	0.31436	0.176000	0.22953	5.420000	0.66441	2.202000	0.70862	0.533000	0.62120	ACC		0.433	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			G	37443310	A	G	37443310	3	3	52	1	0	0	0	0	1	0	0	0	2708	391	14	2	358	2	CBR1	21	37443310	Missense_Mutation	SNP	A	TCGA-KN-8437-01A-11D-2310-10		37443310	10686585	42	5247											
PRODH	8214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr22	18900771	18900771	+	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	1	0	0	0	0	0	0	0	0	0	ctgccgctcccgatgggtgcCcttcatgaggctgctgttct	3	12	12	14	2	2	1	1	1	1	0	3	2	3	1	3	2	3	4	3	2	0	2			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr22:18900771C>T	ENST00000331444.6	+	0	1214				PRODH_ENST00000420436.1_Missense_Mutation_p.G466S|PRODH_ENST00000357068.6_Missense_Mutation_p.G574S|PRODH_ENST00000334029.2_Missense_Mutation_p.G466S	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						CGATGGGTGCCCTTCATGAGG	0.662																																						.											0													23	21	22					22																	18900771		2183	4257	6440	SO:0001628	intergenic_variant	5625			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.18900771C>T			B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	N	25.4	4.638432	0.87760	.	.	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.30981	1.51	4.43	4.43	0.53597	Proline dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.73372	2.23	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.58797	-0.7573	10	0.62326	D	0.03	-26.3236	14.911	0.70758	0.0:1.0:0.0:0.0	.	490;574;466	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	S	574;219	ENSP00000349577:G574S	ENSP00000318329:G219S	G	-	1	0	PRODH	17280771	1.000000	0.71417	0.996000	0.52242	0.484000	0.33280	1.102000	0.31050	2.196000	0.70406	0.505000	0.49811	GGC		0.662	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675		T	18900771	C	T	18900771	1	4	52	0	1	0	0	0	0	0	0	0	12548	623	22	3		3	PRODH	22	18900771	IGR	SNP	C	TCGA-KN-8437-01A-11D-2310-10		18900771	32403795	43	5248											
MKL1	57591	mdanderson.org	37	chr22	40814636	40814636	+	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	atgtggttggtggctggggcCgccaggctggggttgaatgg	4	10	21	6	1	0	1	0	1	0	0	0	1	0	1	2	9	0	4	2	9	1	2	rs4821944	byFrequency	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr22:40814636C>T	ENST00000355630.3	-	12	2396	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	MKL1_ENST00000407029.1_Silent_p.A602A|MKL1_ENST00000396617.3_Silent_p.A602A|MKL1_ENST00000402042.1_Silent_p.A552A	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	602	Pro-rich.				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						TGGCTGGGGCCGCCAGGCTGG	0.701			T	RBM15	acute megakaryocytic leukemia								C|||	983	0.196286	0.1324	0.1988	5008	,	,		10064	0.0099		0.3052	False		,,,				2504	0.3609					.		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0								C		645,3593		64,517,1538	7	10	9		1806	-9.1	0	22	dbSNP_111	9	2472,5952		376,1720,2116	no	coding-synonymous	MKL1	NM_020831.3		440,2237,3654	TT,TC,CC		29.3447,15.2194,24.617		602/932	40814636	3117,9545	2119	4212	6331	SO:0001819	synonymous_variant	57591			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.1806G>A	22.37:g.40814636C>T			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	CCDS14003.1																																																																																				0.701	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		T	40814636	C	T	40814636	2	4	52	1	0	0	0	0	0	0	0	1	9601	639	23	1		1	MKL1	22	40814636	Silent	SNP	C	TCGA-KN-8437-01A-11D-2310-10	21913865	40814636	10489930	44	5249											
ATRX	546	broad.mit.edu	37	chrX	76763910	76763911	+	Frame_Shift_Ins	INS	-	-	C																															gtaatggtggtggctgcataINSccaccagccactggctgata																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chrX:76763910_76763911insC	ENST00000373344.5	-	35	7611_7612	c.7397_7398insG	c.(7396-7398)ggtfs	p.G2466fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.G2428fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2466					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)			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						GTGGCTGCATACCACCAGCCAC	0.465			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001589	frameshift_variant	546			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.7398dupG	X.37:g.76763912_76763912dupC	ENSP00000362441:p.Gly2466fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.465	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		C	76763911	-	C	76763910	7	5	52	1	0	1	1	0	0	0	0	0	1208	378	14	0	84	0	ATRX	23	76763910	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10		76763910	78506650	45	5250											
TCEAL5	340543	mdanderson.org	37	chrX	102529084	102529084	+	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	tcactgctcagatgcctttcTtgtaagtcctcctgagagtc	7	14	8	12	0	3	2	2	1	1	2	6	3	5	2	3	0	2	2	3	0	1	3			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chrX:102529084T>C	ENST00000372680.1	-	3	702	c.408A>G	c.(406-408)caA>caG	p.Q136Q		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q136Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GATGCCTTTCTTGTAAGTCCT	0.498																																						.											2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											203	174	184					X																	102529084		2203	4300	6503	SO:0001819	synonymous_variant	340543				CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.408A>G	X.37:g.102529084T>C			A2RUJ4	Silent	SNP	ENST00000372680.1	37	CCDS35356.1																																																																																				0.498	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		C	102529084	T	C	102529084	2	2	52	1	0	0	0	0	0	0	0	1	15671	1606	56	2		2	TCEAL5	23	102529084	Silent	SNP	T	TCGA-KN-8437-01A-11D-2310-10	25765174	102529084	52741476	46	5251											
RAB40A	142684	broad.mit.edu	37	chrX	102755467	102755468	+	Frame_Shift_Ins	INS	-	-	C																															tatggtacaaaatcttccctINSgccccgacgtatcccagagc																										TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chrX:102755467_102755468insC	ENST00000372633.1	-	1	2335_2336	c.217_218insG	c.(217-219)cagfs	p.Q73fs	RAB40A_ENST00000304236.1_Frame_Shift_Ins_p.Q73fs|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	73					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAATCTTCCCTGCCCCGACGTA	0.564																																						.											0																																										SO:0001589	frameshift_variant	142684			AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.217_218insG	X.37:g.102755467_102755468insC	ENSP00000361716:p.Gln73fs		O00407|Q17RQ5|Q6DK06|Q8TF06	Frame_Shift_Ins	INS	ENST00000372633.1	37	CCDS35357.1																																																																																				0.564	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			C	102755468	-	C	102755467	7	5	52	1	0	1	1	0	0	0	0	0	12939	1580	55	0	619	0	RAB40A	23	102755467	Frame_Shift_Ins	INS	-	TCGA-KN-8437-01A-11D-2310-10	226383	102755467	52515093	47	5252											
PRDM2	7799	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	14105033	14105033	+	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	ccctgcccctgcctgggagcCacagccagaaccagacgagc	9	3	11	18	1	0	2	0	0	0	2	0	4	0	3	7	1	6	0	7	1	1	0			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:14105033C>T	ENST00000235372.7	+	8	1599	c.743C>T	c.(742-744)cCa>cTa	p.P248L	PRDM2_ENST00000311066.5_Missense_Mutation_p.P248L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P47L|PRDM2_ENST00000343137.4_Missense_Mutation_p.P47L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	248					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)		GCCTGGGAGCCACAGCCAGAA	0.592																																						.											0													53	58	56					1																	14105033		2202	4300	6502	SO:0001583	missense	7799			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.743C>T	1.37:g.14105033C>T	ENSP00000235372:p.Pro248Leu		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	7.476	0.647689	0.14516	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01572	4.88;4.77;4.76;4.76	5.66	2.67	0.31697	.	0.702533	0.14676	N	0.305019	T	0.02156	0.0067	L	0.40543	1.245	0.25767	N	0.984882	B;B;B	0.19817	0.0;0.023;0.039	B;B;B	0.23716	0.002;0.021;0.048	T	0.41070	-0.9529	10	0.59425	D	0.04	.	7.4233	0.27083	0.0:0.6362:0.0:0.3638	.	106;248;248	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	L	248;248;248;47;47;47	ENSP00000235372:P248L;ENSP00000312352:P248L;ENSP00000411103:P47L;ENSP00000341621:P47L	ENSP00000235372:P248L	P	+	2	0	PRDM2	13977620	0.058000	0.20735	0.043000	0.18650	0.063000	0.16089	0.460000	0.21924	0.283000	0.22279	-0.378000	0.06908	CCA		0.592	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		T	14105033	C	T	14105033	3	4	53	1	0	0	0	0	1	0	0	0	12458	594	21	4	769	4	PRDM2	1	14105033	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10		14105033	235145588	1	5253											
KIF17	57576	ucsc.edu	37	chr1	20998493	20998493	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaagccgttatcttcgTcccagcaggactcacgcaga	10	8	9	14	3	2	2	1	0	1	2	5	3	4	3	3	1	2	3	3	1	2	2			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:20998493T>C	ENST00000247986.2	-	12	2970	c.2660A>G	c.(2659-2661)gAc>gGc	p.D887G	KIF17_ENST00000375044.1_Missense_Mutation_p.D787G|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.D887G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	887					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)		GTTATCTTCGTCCCAGCAGGA	0.582																																						.											0													123	112	116					1																	20998493		2203	4300	6503	SO:0001583	missense	57576			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.2660A>G	1.37:g.20998493T>C	ENSP00000247986:p.Asp887Gly		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863900	0.91511	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.75821	-0.97;-0.78;-0.79	5.64	5.64	0.86602	.	0.000000	0.33515	U	0.004839	D	0.85261	0.5656	M	0.70595	2.14	0.45883	D	0.998733	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	D	0.86601	0.1866	10	0.66056	D	0.02	.	15.3326	0.74226	0.0:0.0:0.0:1.0	.	887;887;887	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	G	787;887;887;268	ENSP00000364184:D787G;ENSP00000383311:D887G;ENSP00000247986:D887G	ENSP00000247986:D887G	D	-	2	0	KIF17	20871080	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.278000	0.78587	2.279000	0.76181	0.459000	0.35465	GAC		0.582	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		C	20998493	T	C	20998493	3	2	53	1	0	0	0	0	1	0	0	0	8279	1667	58	2	445	2	KIF17	1	20998493	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	6893460	20998493	228252128	2	5254											
CSMD2	114784	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	34043016	34043016	+	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	gccaaagtggatggagccccCgggctgggtgctggtctggc	5	7	18	11	1	1	0	0	0	1	0	1	2	1	2	3	6	2	2	3	6	1	0	rs374084658		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:34043016C>T	ENST00000373381.4	-	49	7632	c.7456G>A	c.(7456-7458)Ggg>Agg	p.G2486R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2488	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGAGCCCCCGGGCTGGGTG	0.642													C|||	1	0.000199681	8e-04	0	5008	,	,		15976	0		0	False		,,,				2504	0					.											0								C	ARG/GLY	0,4406		0,0,2203	49	53	51		7462	5.4	1	1		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2488/3488	34043016	1,13005	2203	4300	6503	SO:0001583	missense	114784			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.7456G>A	1.37:g.34043016C>T	ENSP00000362479:p.Gly2486Arg		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	33	5.242722	0.95272	0.0	1.16E-4	ENSG00000121904	ENST00000373381	T	0.71698	-0.59	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.123617	0.53938	D	0.000044	D	0.86167	0.5868	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87679	0.2546	10	0.62326	D	0.03	.	18.2782	0.90089	0.0:1.0:0.0:0.0	.	2488;2486	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	2486	ENSP00000362479:G2486R	ENSP00000241312:G2488R	G	-	1	0	CSMD2	33815603	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.757000	0.85209	2.569000	0.86673	0.563000	0.77884	GGG		0.642	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	34043016	C	T	34043016	3	4	53	1	0	0	0	0	1	0	0	0	3945	652	23	1	3081	1	CSMD2	1	34043016	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	13044523	34043016	215207605	3	5255											
GPATCH4	54865	hgsc.bcm.edu	37	chr1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-																															tctgcctccttttctttttcTtttttttggggggcttgctc																										TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:156565504delT	ENST00000438976.2	-	8	659	c.629delA	c.(628-630)aagfs	p.K213fs	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Frame_Shift_Del_p.K208fs			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	208							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)					TTTCTTTTTCTTTTTTTTGGG	0.537																																						.											0													90	89	90					1																	156565504		2203	4300	6503	SO:0001589	frameshift_variant	54865			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.629delA	1.37:g.156565504delT	ENSP00000396441:p.Lys213fs		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Del	DEL	ENST00000438976.2	37	CCDS44245.1																																																																																				0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		-	156565504	T	-	156565504	7	5	53	1	0	1	0	1	0	0	0	0	6593	1609	56	0	502	0	GPATCH4	1	156565504	Frame_Shift_Del	DEL	T	TCGA-KO-8403-01A-11D-2310-10	122522488	156565504	92685117	4	5256											
BAT2L2	23215	broad.mit.edu	37	chr1	171560737	171560737	+	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	ttttttaaggcaaagcagagAgcagaggttcttcagtccac	12	11	10	8	0	2	2	1	0	1	2	3	3	3	2	1	2	2	4	1	2	2	5			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:171560737A>G	ENST00000338920.4	+	34	8442	c.8205A>G	c.(8203-8205)agA>agG	p.R2735R	PRRC2C_ENST00000426496.2_Silent_p.R2670R|PRRC2C_ENST00000367742.3_Silent_p.R2737R|PRRC2C_ENST00000392078.3_Silent_p.R2816R	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2814					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CAAAGCAGAGAGCAGAGGTTC	0.418																																						.											0													81	76	78					1																	171560737		1919	4135	6054	SO:0001819	synonymous_variant	23215			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.8205A>G	1.37:g.171560737A>G			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	5.980	0.364720	0.11296	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	T	0.66317	0.2777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66180	-0.5988	4	.	.	.	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	.	.	.	G	1218	.	.	E	+	2	0	PRRC2C	169827360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.978000	0.56881	2.270000	0.75569	0.482000	0.46254	GAG		0.418	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		G	171560737	A	G	171560737	2	3	53	1	0	0	0	0	0	0	0	1	1321	301	11	2		2	BAT2L2	1	171560737	Silent	SNP	A	TCGA-KO-8403-01A-11D-2310-10	14995233	171560737	77689884	5	5257											
OR2L2	26246	mdanderson.org	37	chr1	248202412	248202412	+	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	gttttctacaccatcctcacCccaatgctcaaccccatcat	10	11	2	18	0	4	0	3	0	1	0	5	0	5	0	6	0	3	2	6	0	3	3			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:248202412C>T	ENST00000366479.2	+	1	939	c.843C>T	c.(841-843)acC>acT	p.T281T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCATCCTCACCCCAATGCTCA	0.468																																						.											0													98	93	95					1																	248202412		2203	4300	6503	SO:0001819	synonymous_variant	26246			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.843C>T	1.37:g.248202412C>T			Q2M3T5	Silent	SNP	ENST00000366479.2	37	CCDS31103.1																																																																																				0.468	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		T	248202412	C	T	248202412	2	4	53	1	0	0	0	0	0	0	0	1	11007	610	22	3		3	OR2L2	1	248202412	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10	76641675	248202412	1048209	6	5258											
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	166900204	166900204	+	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	catcagtagctggcttatctAttatcacctctggcagaagc	10	12	8	11	0	4	1	2	0	2	1	4	1	4	1	1	2	2	4	1	2	5	4			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr2:166900204A>T	ENST00000303395.4	-	11	2017	c.2018T>A	c.(2017-2019)aTa>aAa	p.I673K	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Intron|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Intron|SCN1A_ENST00000423058.2_Missense_Mutation_p.I673K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	673					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGCTTATCTATTATCACCTC	0.473																																						.											0													72	67	69					2																	166900204		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2018T>A	2.37:g.166900204A>T	ENSP00000303540:p.Ile673Lys		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434635	0.43224	.	.	ENSG00000144285	ENST00000423058;ENST00000303395	D;D	0.90620	-2.7;-2.7	4.9	4.9	0.64082	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000010	D	0.85191	0.5640	L	0.34521	1.04	0.45066	D	0.998084	P	0.42357	0.777	B	0.43052	0.406	T	0.83092	-0.0132	10	0.06365	T	0.9	.	14.8259	0.70113	1.0:0.0:0.0:0.0	.	673	P35498	SCN1A_HUMAN	K	673	ENSP00000407030:I673K;ENSP00000303540:I673K	ENSP00000303540:I673K	I	-	2	0	SCN1A	166608450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	1.962000	0.57031	0.459000	0.35465	ATA		0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166900204	A	T	166900204	3	4	53	1	0	0	0	0	1	0	0	0	13914	449	16	5	4075	5	SCN1A	2	166900204	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10		166900204	76299169	7	5259											
GPR155	151556	ucsc.edu	37	chr2	175346286	175346286	+	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	aaaatagggaatagtccagcTttgctaaatcgactatcagg	15	10	9	7	1	1	0	1	0	0	0	3	2	2	1	1	2	2	2	1	2	8	5			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr2:175346286T>C	ENST00000392552.2	-	2	637	c.399A>G	c.(397-399)aaA>aaG	p.K133K	GPR155_ENST00000295500.4_Silent_p.K133K|GPR155_ENST00000392551.2_Silent_p.K133K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	133					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATAGTCCAGCTTTGCTAAATC	0.323																																						.											0													151	163	159					2																	175346286		2203	4299	6502	SO:0001819	synonymous_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.399A>G	2.37:g.175346286T>C			B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	CCDS2259.1																																																																																				0.323	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		C	175346286	T	C	175346286	2	2	53	1	0	0	0	0	0	0	0	1	6660	1606	56	2		2	GPR155	2	175346286	Silent	SNP	T	TCGA-KO-8403-01A-11D-2310-10	8446082	175346286	67853087	8	5260											
ATG7	10533	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	11340174	11340174	+	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	taataggcaagaaataatggCggcagctacgggggatcctg	13	7	14	7	2	0	1	0	0	0	1	1	2	1	2	1	5	2	3	1	5	6	4			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:11340174C>T	ENST00000354449.3	+	2	30	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ATG7_ENST00000446450.2_Missense_Mutation_p.A2V|ATG7_ENST00000354956.5_Missense_Mutation_p.A2V|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	2					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						GAAATAATGGCGGCAGCTACG	0.408																																						.											0													105	115	111					3																	11340174		2203	4300	6503	SO:0001583	missense	10533			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	ENST00000354449.3:c.5C>T	3.37:g.11340174C>T	ENSP00000346437:p.Ala2Val		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672825	0.67928	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	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	6.17	5.3	0.74995	.	0.370287	0.27109	N	0.020900	T	0.24774	0.0601	N	0.14661	0.345	0.33124	D	0.54224	B;P;P	0.43352	0.396;0.804;0.704	B;B;B	0.34242	0.086;0.178;0.086	T	0.42949	-0.9421	10	0.72032	D	0.01	-4.5055	12.4727	0.55795	0.0:0.9231:0.0:0.0769	.	2;2;2	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	V	2	ENSP00000415223:A2V;ENSP00000390547:A2V;ENSP00000411880:A2V;ENSP00000389996:A2V;ENSP00000412580:A2V;ENSP00000347042:A2V;ENSP00000346437:A2V;ENSP00000408303:A2V;ENSP00000416644:A2V	ENSP00000346437:A2V	A	+	2	0	ATG7	11315174	0.990000	0.36364	0.964000	0.40570	0.065000	0.16274	2.914000	0.48797	1.627000	0.50400	0.655000	0.94253	GCG		0.408	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		T	11340174	C	T	11340174	3	4	53	1	0	0	0	0	1	0	0	0	1101	768	27	1	7	1	ATG7	3	11340174	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10		11340174	186682256	9	5261											
NDUFAF3	25915	broad.mit.edu	37	chr3	49059954	49059954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgctctgctcccgcacTcggtggtgcagtggaacgtg	4	9	14	14	4	1	0	0	0	1	0	3	1	2	1	2	3	4	4	2	3	1	0			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:49059954T>C	ENST00000326925.6	+	2	1387	c.253T>C	c.(253-255)Tcg>Ccg	p.S85P	MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.S28P|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.S28P|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.S28P	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	85					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCTCCCGCACTCGGTGGTGCA	0.622																																						.											0													24	23	24					3																	49059954		2203	4300	6503	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.253T>C	3.37:g.49059954T>C	ENSP00000323076:p.Ser85Pro			Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971238	0.53614	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.37	2.83	0.33086	.	0.113452	0.64402	D	0.000016	T	0.81564	0.4849	M	0.78049	2.395	0.35697	D	0.815333	P	0.45240	0.854	P	0.54026	0.74	T	0.81280	-0.1004	10	0.46703	T	0.11	-13.547	5.6228	0.17467	0.3845:0.0:0.2401:0.3755	.	85	Q9BU61	NDUF3_HUMAN	P	28;85;28;28	ENSP00000323003:S28P;ENSP00000323076:S85P;ENSP00000378843:S28P;ENSP00000402465:S28P	ENSP00000323003:S28P	S	+	1	0	NDUFAF3	49034958	0.993000	0.37304	0.465000	0.27155	0.082000	0.17680	2.759000	0.47573	0.282000	0.22254	0.482000	0.46254	TCG		0.622	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		C	49059954	T	C	49059954	3	2	53	1	0	0	0	0	1	0	0	0	10276	1551	54	2	259	2	NDUFAF3	3	49059954	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	37719780	49059954	148962476	10	5262											
DNAH12	201625	broad.mit.edu	37	chr3	57431084	57431084	+	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	ttcaaaaatccgtaagagtaGagggagatttctgctataag	15	11	10	5	1	2	3	1	0	1	3	3	4	3	3	1	1	1	3	1	1	6	6			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:57431084G>T	ENST00000351747.2	-	28	4353	c.4173C>A	c.(4171-4173)ctC>ctA	p.L1391L		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1391	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CGTAAGAGTAGAGGGAGATTT	0.363																																						.											0													55	50	51					3																	57431084		692	1591	2283	SO:0001819	synonymous_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.4173C>A	3.37:g.57431084G>T			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																					0.363	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		T	57431084	G	T	57431084	2	4	53	1	0	0	0	0	0	0	0	1	4600	929	33	5		5	DNAH12	3	57431084	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	8371130	57431084	140591346	11	5263											
SIAH2	6478	bcgsc.ca	37	chr3	150460253	150460253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgcatcatcacccagTcgacagcccctggcaagtta	11	8	8	14	1	2	1	2	1	0	0	3	2	2	1	3	1	2	3	3	1	2	1			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:150460253T>C	ENST00000312960.3	-	2	1177	c.650A>G	c.(649-651)gAc>gGc	p.D217G		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	217	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D217G(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATCACCCAGTCGACAGCCCC	0.507																																						.											1	Substitution - Missense(1)	lung(1)											113	104	107					3																	150460253		2203	4300	6503	SO:0001583	missense	6478			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.650A>G	3.37:g.150460253T>C	ENSP00000322457:p.Asp217Gly		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.947371	0.92593	.	.	ENSG00000181788	ENST00000312960	T	0.25912	1.77	5.67	5.67	0.87782	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.90759	3.145	0.80722	D	1	P	0.43287	0.802	P	0.57846	0.828	T	0.59150	-0.7508	10	0.36615	T	0.2	.	15.9206	0.79562	0.0:0.0:0.0:1.0	.	217	O43255	SIAH2_HUMAN	G	217	ENSP00000322457:D217G	ENSP00000322457:D217G	D	-	2	0	SIAH2	151942943	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	8.024000	0.88770	2.148000	0.66965	0.482000	0.46254	GAC		0.507	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		C	150460253	T	C	150460253	3	2	53	1	0	0	0	0	1	0	0	0	14300	1667	58	2	328	2	SIAH2	3	150460253	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	93029169	150460253	47562177	12	5264											
FAM13A	10144	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	89668864	89668864	+	Missense_Mutation	SNP	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	ccaatgtggcttcaacactgGgctttattgctttatccacc	8	14	7	12	0	1	0	1	0	0	0	2	0	2	0	3	2	2	3	3	2	4	6			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr4:89668864G>T	ENST00000264344.5	-	18	2507	c.2300C>A	c.(2299-2301)cCc>cAc	p.P767H	FAM13A_ENST00000513837.1_Missense_Mutation_p.P413H|FAM13A_ENST00000508369.1_Missense_Mutation_p.P441H|FAM13A_ENST00000395002.2_Missense_Mutation_p.P441H|FAM13A_ENST00000503556.1_Missense_Mutation_p.P427H|FAM13A_ENST00000511976.1_Missense_Mutation_p.P353H	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	767					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCAACACTGGGCTTTATTGC	0.493																																						.											0													156	177	170					4																	89668864		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2300C>A	4.37:g.89668864G>T	ENSP00000264344:p.Pro767His		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553406	0.45487	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.57107	0.42;1.73;1.04;1.1;1.04;1.05	5.26	4.43	0.53597	.	0.055321	0.64402	D	0.000001	T	0.70605	0.3243	M	0.71581	2.175	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	0.997;0.999;0.998;0.999;0.996;0.997	T	0.74858	-0.3521	10	0.87932	D	0	.	13.9499	0.64111	0.0724:0.0:0.9276:0.0	.	413;353;767;441;427;441	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	H	441;767;427;353;441;413	ENSP00000378450:P441H;ENSP00000264344:P767H;ENSP00000427189:P427H;ENSP00000421914:P353H;ENSP00000421562:P441H;ENSP00000423252:P413H	ENSP00000264344:P767H	P	-	2	0	FAM13A	89887887	1.000000	0.71417	0.212000	0.23672	0.022000	0.10575	7.660000	0.83776	1.457000	0.47850	0.655000	0.94253	CCC		0.493	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			T	89668864	G	T	89668864	3	4	53	1	0	0	0	0	1	0	0	0	5452	1232	43	5	799	5	FAM13A	4	89668864	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10		89668864	101485412	13	5265											
TRPC3	7222	mdanderson.org	37	chr4	122872719	122872719	+	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	cccccgttgacgcccctccaGccccggcggcggcgctgcgg	2	4	14	21	7	0	1	0	1	0	0	1	1	1	1	7	4	2	2	7	4	0	1	rs1396082	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr4:122872719G>A	ENST00000379645.3	-	1	190	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	0					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						CGCCCCTCCAGCCCCGGCGGC	0.751													G|||	1898	0.378994	0.093	0.4193	5008	,	,		7272	0.5179		0.5318	False		,,,				2504	0.4366					.											0													3	4	4					4																	122872719		586	1410	1996	SO:0001819	synonymous_variant	7222			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.117C>T	4.37:g.122872719G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																				0.751	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		A	122872719	G	A	122872719	2	1	53	1	0	0	0	0	0	0	0	1	16576	958	34	4		4	TRPC3	4	122872719	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	33203855	122872719	68281557	14	5266											
PCDHB3	56132	broad.mit.edu	37	chr5	140480872	140480872	+	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	gaactcagcttaacgctcacCgcgctggacggcggctctcc	7	7	11	16	5	3	0	2	0	1	0	4	2	3	1	2	3	3	4	2	3	2	1	rs148121148		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:140480872C>T	ENST00000231130.2	+	1	639	c.639C>T	c.(637-639)acC>acT	p.T213T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAACGCTCACCGCGCTGGACG	0.562																																						.											0								C		1,4405	2.1+/-5.4	0,1,2202	51	51	51		639	-10.2	0	5	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	PCDHB3	NM_018937.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		213/797	140480872	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.639C>T	5.37:g.140480872C>T			B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		T	140480872	C	T	140480872	2	4	53	1	0	0	0	0	0	0	0	1	11543	639	23	1		1	PCDHB3	5	140480872	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10		140480872	40434388	15	5267											
DIAPH1	1729	bcgsc.ca	37	chr5	140953097	140953097	+	Missense_Mutation	SNP	T	T	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	ccggagctgcacctctggctTataaagctttttgggggtta	7	13	12	9	1	1	0	0	0	1	0	1	1	1	1	2	4	3	5	2	4	4	5			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:140953097T>C	ENST00000398557.4	-	16	2460	c.2320A>G	c.(2320-2322)Aag>Gag	p.K774E	DIAPH1_ENST00000389057.5_Missense_Mutation_p.K765E|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K765E|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K720E|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K753E|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K774E|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K765E|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K774E	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	774	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCTGGCTTATAAAGCTTT	0.458																																						.											0													62	68	66					5																	140953097		1831	4085	5916	SO:0001583	missense	1729			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.2320A>G	5.37:g.140953097T>C	ENSP00000381565:p.Lys774Glu		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231990	0.58777	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.18	3.94	0.45596	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.408429	0.22997	N	0.053126	T	0.29256	0.0728	M	0.64170	1.965	0.46437	D	0.999046	D;D;D	0.56968	0.965;0.978;0.978	P;P;P	0.55615	0.711;0.78;0.78	T	0.01661	-1.1301	10	0.40728	T	0.16	.	10.8348	0.46681	0.0:0.0:0.1582:0.8418	.	720;765;774	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	E	774;720;753;765;765;774;774;765;213	ENSP00000373706:K774E;ENSP00000429282:K720E;ENSP00000381570:K753E;ENSP00000373709:K765E;ENSP00000381572:K765E;ENSP00000381565:K774E;ENSP00000253811:K774E;ENSP00000428268:K765E	ENSP00000253811:K774E	K	-	1	0	DIAPH1	140933281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.680000	0.68168	1.958000	0.56883	0.482000	0.46254	AAG		0.458	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		C	140953097	T	C	140953097	3	2	53	1	0	0	0	0	1	0	0	0	4518	1763	61	4	1550	4	DIAPH1	5	140953097	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	472225	140953097	39962163	16	5268											
MXD3	83463	mdanderson.org	37	chr5	176734855	176734855	+	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	gcccgcagccgctcccgctcGgccgcccctgccagcccccg	2	3	11	25	6	0	0	0	0	0	0	2	0	1	0	9	1	3	3	9	1	0	0	rs4568379	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:176734855G>C	ENST00000439742.2	-	5	910	c.432C>G	c.(430-432)gcC>gcG	p.A144A	MXD3_ENST00000423571.2_Silent_p.A144A|MXD3_ENST00000513063.1_Silent_p.A144A|MXD3_ENST00000427908.2_Silent_p.A144A	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	144					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			GCTCCCGCTCGGCCGCCCCTG	0.697													G|||	1039	0.207468	0.3555	0.1686	5008	,	,		11663	0.0258		0.2276	False		,,,				2504	0.2014					.											0								G	,	1112,2786		174,764,1011	8	10	10		432,432	-8.5	0	5	dbSNP_111	10	1622,6156		180,1262,2447	no	coding-synonymous,coding-synonymous	MXD3	NM_001142935.1,NM_031300.3	,	354,2026,3458	CC,CG,GG		20.8537,28.5274,23.4156	,	144/194,144/207	176734855	2734,8942	1949	3889	5838	SO:0001819	synonymous_variant	83463			BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.432C>G	5.37:g.176734855G>C			B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Silent	SNP	ENST00000439742.2	37	CCDS4416.1																																																																																				0.697	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			C	176734855	G	C	176734855	2	2	53	1	0	0	0	0	0	0	0	1	10000	1103	39	5		5	MXD3	5	176734855	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	35781758	176734855	4180405	17	5269											
BTNL8	79908	broad.mit.edu;bcgsc.ca	37	chr5	180377222	180377222	+	Missense_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	gtatttcacattaaatccccGttttatcagcgtcttcccca	9	15	4	13	2	3	0	2	0	1	0	5	0	5	0	4	0	1	2	4	0	4	6			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:180377222G>A	ENST00000340184.4	+	8	1387	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	BTNL8_ENST00000505126.1_Missense_Mutation_p.R187H|BTNL8_ENST00000511704.1_Missense_Mutation_p.R278H|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.R269H|BTNL8_ENST00000533815.2_Missense_Mutation_p.R210H	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|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)			TTAAATCCCCGTTTTATCAGC	0.478																																						.											0													136	120	125					5																	180377222		1976	3815	5791	SO:0001583	missense	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1181G>A	5.37:g.180377222G>A	ENSP00000342197:p.Arg394His		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.862774	0.00552	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	1.85	0.484	0.16825	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.50103	0.1596	L	0.46741	1.465	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	0.32534	-0.9903	9	0.09084	T	0.74	.	4.9321	0.13923	0.8194:0.0:0.1806:0.0	.	269;278;394	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	H	394;269;278;187;210	ENSP00000342197:R394H;ENSP00000383543:R269H;ENSP00000425207:R278H;ENSP00000427441:R187H;ENSP00000435098:R210H	ENSP00000342197:R394H	R	+	2	0	BTNL8	180309828	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.081000	0.11321	0.020000	0.15106	-0.634000	0.03986	CGT		0.478	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		A	180377222	G	A	180377222	3	1	53	1	0	0	0	0	1	0	0	0	1567	1145	40	1	1367	1	BTNL8	5	180377222	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	3642367	180377222	538038	18	5270											
GLP1R	2740	ucsc.edu	37	chr6	39033549	39033549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctgcagaaggacaacTccagcctgccctggagggac	9	6	13	13	0	1	1	0	0	1	1	2	4	2	4	3	4	4	2	3	4	2	0			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:39033549T>C	ENST00000373256.4	+	4	389	c.346T>C	c.(346-348)Tcc>Ccc	p.S116P		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	116					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GAAGGACAACTCCAGCCTGCC	0.652																																						.											0													44	40	41					6																	39033549		2201	4299	6500	SO:0001583	missense	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.346T>C	6.37:g.39033549T>C	ENSP00000362353:p.Ser116Pro		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067526	0.55539	.	.	ENSG00000112164	ENST00000373256	T	0.53423	0.62	4.86	3.62	0.41486	GPCR, family 2, extracellular hormone receptor domain (3);	0.212975	0.33534	N	0.004804	T	0.34629	0.0904	L	0.57536	1.79	0.40686	D	0.982358	P	0.44344	0.833	P	0.46144	0.505	T	0.18903	-1.0322	10	0.40728	T	0.16	.	9.333	0.38034	0.0:0.0:0.1803:0.8197	.	116	P43220	GLP1R_HUMAN	P	116	ENSP00000362353:S116P	ENSP00000362353:S116P	S	+	1	0	GLP1R	39141527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.890000	0.48609	1.841000	0.53522	0.374000	0.22700	TCC		0.652	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			C	39033549	T	C	39033549	3	2	53	1	0	0	0	0	1	0	0	0	6452	1551	54	2	360	2	GLP1R	6	39033549	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10		39033549	132081518	19	5271											
MANEA	79694	mdanderson.org	37	chr6	96054262	96054262	+	Missense_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	agcaacttatgcattagatcGccagctgcctgtttcttaat	10	14	7	10	1	1	1	0	0	1	1	2	1	1	1	2	0	5	4	2	0	4	4	rs75510775	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:96054262G>A	ENST00000358812.4	+	5	1504	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	457	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GCATTAGATCGCCAGCTGCCT	0.348													A|||	171	0.0341454	0.0643	0.0375	5008	,	,		14821	0		0.0517	False		,,,				2504	0.0082					.											0								A	HIS/ARG	282,4124	791.0+/-415.1	8,266,1929	44	45	44		1370	4.2	0.1	6	dbSNP_131	44	410,8188	797.4+/-407.4	8,394,3897	yes	missense	MANEA	NM_024641.3	29	16,660,5826	AA,AG,GG		4.7686,6.4004,5.3214	benign	457/463	96054262	692,12312	2203	4299	6502	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1370G>A	6.37:g.96054262G>A	ENSP00000351669:p.Arg457His		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	81	0.03708791208791209	31	0.06300813008130081	16	0.04419889502762431	0	0.0	34	0.044854881266490766	A	0.124	-1.122266	0.01785	0.064004	0.047686	ENSG00000172469	ENST00000358812	.	.	.	5.36	4.19	0.49359	.	0.587085	0.16595	N	0.207606	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35748	-0.9776	9	0.30854	T	0.27	-1.1404	5.6151	0.17426	0.7418:0.1717:0.0866:0.0	.	457	Q5SRI9	MANEA_HUMAN	H	457	.	ENSP00000351669:R457H	R	+	2	0	MANEA	96160983	0.001000	0.12720	0.092000	0.20876	0.063000	0.16089	1.056000	0.30480	0.475000	0.27415	-0.254000	0.11334	CGC		0.348	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		A	96054262	G	A	96054262	3	1	53	1	0	0	0	0	1	0	0	0	9221	1087	38	1	1384	1	MANEA	6	96054262	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	57020713	96054262	75060805	20	5272											
SERINC1	57515	broad.mit.edu	37	chr6	122768108	122768108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtagattcatcacttgttAgagtcagtttattaacctga	12	16	7	6	0	3	3	3	1	0	2	3	3	3	3	1	0	1	3	1	0	4	7			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:122768108A>G	ENST00000339697.4	-	9	1121	c.1037T>C	c.(1036-1038)cTa>cCa	p.L346P		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	346					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)		ATCACTTGTTAGAGTCAGTTT	0.368																																						.											0													104	97	99					6																	122768108		2203	4300	6503	SO:0001583	missense	57515			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.1037T>C	6.37:g.122768108A>G	ENSP00000342962:p.Leu346Pro		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126057	0.56721	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.19250	2.16;2.16	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	M	0.81802	2.56	0.80722	D	1	D	0.60575	0.988	D	0.68943	0.961	T	0.17077	-1.0381	10	0.24483	T	0.36	-9.7399	15.4194	0.75000	1.0:0.0:0.0:0.0	.	346	Q9NRX5	SERC1_HUMAN	P	346	ENSP00000342962:L346P;ENSP00000357439:L346P	ENSP00000342962:L346P	L	-	2	0	SERINC1	122809807	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	7.436000	0.80404	2.048000	0.60808	0.528000	0.53228	CTA		0.368	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		G	122768108	A	G	122768108	3	3	53	1	0	0	0	0	1	0	0	0	14079	420	15	2	332	2	SERINC1	6	122768108	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	26713846	122768108	48346959	21	5273											
WIPF3	644150	broad.mit.edu	37	chr7	29924145	29924146	+	Frame_Shift_Ins	INS	-	-	C																															aggccggtgcgcaggccttgINScccgccccgcctgcccctcc																								rs572323909		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr7:29924145_29924146insC	ENST00000409290.1	+	4	1035_1036	c.1035_1036insC	c.(1036-1038)cccfs	p.P346fs	WIPF3_ENST00000409123.1_Frame_Shift_Ins_p.P346fs|WIPF3_ENST00000242140.5_Frame_Shift_Ins_p.P346fs	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	346					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CGCAGGCCTTGCCCGCCCCGCC	0.673																																						.											0																																										SO:0001589	frameshift_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1038dupC	7.37:g.29924148_29924148dupC	ENSP00000386878:p.Pro346fs		B8ZZV2	Frame_Shift_Ins	INS	ENST00000409290.1	37	CCDS56472.1																																																																																				0.673	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			C	29924146	-	C	29924145	7	5	53	1	0	1	1	0	0	0	0	0	17366	1310	46	0	1049	0	WIPF3	7	29924145	Frame_Shift_Ins	INS	-	TCGA-KO-8403-01A-11D-2310-10		29924145	129214518	22	5274											
SLC39A4	55630	mdanderson.org	37	chr8	145641564	145641564	+	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	ggcttccccgagggcctgttTccctttcaagtccaacaacg	7	10	9	15	2	1	0	1	0	0	0	4	1	4	0	5	2	2	2	5	2	3	3	rs2280839	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr8:145641564T>G	ENST00000276833.5	-	1	332	c.29A>C	c.(28-30)gAa>gCa	p.E10A	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	0					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)			AGGGCCTGTTTCCCTTTCAAG	0.662													T|||	2174	0.434105	0.4561	0.4135	5008	,	,		15139	0.38		0.5268	False		,,,				2504	0.3793					.											0								T	ALA/GLU,	1914,2120		462,990,565	27	34	32		29,	-3.1	0	8	dbSNP_100	32	4429,3911		1205,2019,946	yes	missense,intron	SLC39A4	NM_017767.2,NM_130849.2	107,	1667,3009,1511	GG,GT,TT		46.8945,47.4467,48.7393	,	10/623,	145641564	6343,6031	2017	4170	6187	SO:0001583	missense	55630			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.29A>C	8.37:g.145641564T>G	ENSP00000276833:p.Glu10Ala		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000276833.5	37	CCDS43782.1	1061	0.4858058608058608	242	0.491869918699187	166	0.4585635359116022	238	0.4160839160839161	415	0.5474934036939314	T	13.03	2.114534	0.37339	0.474467	0.531055	ENSG00000147804	ENST00000276833	T	0.61627	0.09	3.0	-3.1	0.05315	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.45396	-0.9264	8	0.87932	D	0	.	5.3	0.15773	0.0:0.5884:0.1949:0.2167	rs2280839;rs61327800;rs2280839	10	A6NDY5	.	A	10	ENSP00000276833:E10A	ENSP00000276833:E10A	E	-	2	0	SLC39A4	145612372	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.695000	0.05109	-0.557000	0.06126	0.254000	0.18369	GAA		0.662	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382687.2			G	145641564	T	G	145641564	3	3	53	1	0	0	0	0	1	0	0	0	14620	1783	62	5	1883	5	SLC39A4	8	145641564	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10		145641564	722458	23	5275											
ISCA1	81689	hgsc.bcm.edu;ucsc.edu	37	chr9	88897335	88897335	+	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	ggctgcagcttcctcttgctCacagcccggacagttgcccg	5	9	11	16	2	2	0	1	0	1	0	3	1	3	1	3	2	5	5	3	2	0	3			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr9:88897335C>A	ENST00000375991.4	-	1	109	c.39G>T	c.(37-39)gtG>gtT	p.V13V	ISCA1_ENST00000311534.6_5'Flank|ISCA1_ENST00000452279.2_Silent_p.V60V|ISCA1_ENST00000326094.4_Silent_p.V13V	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	13					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		TCCTCTTGCTCACAGCCCGGA	0.706																																						.											0													7	7	7					9																	88897335		2128	4176	6304	SO:0001819	synonymous_variant	81689			AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"HESB like domain containing 2", "iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.39G>T	9.37:g.88897335C>A			B3KP34|B4DJI5|Q8ND75|Q9BZR2	Silent	SNP	ENST00000375991.4	37	CCDS35056.1																																																																																				0.706	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052914.1	NM_030940		A	88897335	C	A	88897335	2	1	53	1	0	0	0	0	0	0	0	1	7849	813	29	5		5	ISCA1	9	88897335	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10		88897335	52316096	24	5276											
SIRT3	23410	broad.mit.edu;hgsc.bcm.edu	37	chr11	216703	216706	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															ggggcagccatcatcctattTgtctggtccatcaagctgga																										TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	TGTC	TGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:216703_216706delTGTC	ENST00000382743.4	-	7	1294_1297	c.1192_1195delGACA	c.(1192-1197)gacaaafs	p.DK398fs	SIRT3_ENST00000524564.1_Frame_Shift_Del_p.DK352fs|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.DK344fs|SIRT3_ENST00000529382.1_Frame_Shift_Del_p.DK256fs|SIRT3_ENST00000525319.1_Frame_Shift_Del_p.DK317fs	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	398					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		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;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TCATCCTATTTGTCTGGTCCATCA	0.49																																						.											0																																										SO:0001589	frameshift_variant	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1192_1195delGACA	11.37:g.216703_216706delTGTC	ENSP00000372191:p.Asp398fs		B7Z5U6|Q9Y6E8	Frame_Shift_Del	DEL	ENST00000382743.4	37	CCDS7691.1																																																																																				0.49	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			-	216706	TGTC	-	216703	7	5	53	1	0	1	0	1	0	0	0	0	14339	1821	63	0	8	0	SIRT3	11	216703	Frame_Shift_Del	DEL	TGTC	TCGA-KO-8403-01A-11D-2310-10		216703	134789813	25	5277	133	2									
SIRT3	23410	bcgsc.ca	37	chr11	216704	216707	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															gggcagccatcatcctatttGtctggtccatcaagctggaa																										TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	TGTC	TGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:216704_216707delTGTC	ENST00000382743.4	-	7	1293_1296	c.1191_1194delGACA	c.(1189-1194)ccgacafs	p.PT397fs	SIRT3_ENST00000524564.1_Frame_Shift_Del_p.PT351fs|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.PT343fs|SIRT3_ENST00000529382.1_Frame_Shift_Del_p.PT255fs|SIRT3_ENST00000525319.1_Frame_Shift_Del_p.PT316fs	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	397					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		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;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CATCCTATTTGTCTGGTCCATCAA	0.49																																						.											0																																										SO:0001589	frameshift_variant	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1191_1194delGACA	11.37:g.216704_216707delTGTC	ENSP00000372191:p.Pro397fs		B7Z5U6|Q9Y6E8	Frame_Shift_Del	DEL	ENST00000382743.4	37	CCDS7691.1																																																																																				0.49	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			-	216707	TGTC	-	216704	7	5	53	1	0	1	0	1	0	0	0	0	14339	1368	48	0	9	0	SIRT3	11	216704	Frame_Shift_Del	DEL	TGTC	TCGA-KO-8403-01A-11D-2310-10	1	216704	134789812	26	5278	133	2									
MUC6	4588	mdanderson.org	37	chr11	1018459	1018459	+	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	caaggaggtggagaaaggtgGaacgtgagtgggaagtgtgg	12	6	21	2	1	0	2	0	1	0	1	0	6	0	5	0	7	1	0	0	7	4	0	rs199760270		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1018459G>T	ENST00000421673.2	-	31	4392	c.4342C>A	c.(4342-4344)Cca>Aca	p.P1448T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1448	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)		GAGAAAGGTGGAACGTGAGTG	0.562																																						.											0													301	305	304					11																	1018459		2193	4286	6479	SO:0001583	missense	4588			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.4342C>A	11.37:g.1018459G>T	ENSP00000406861:p.Pro1448Thr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.967	0.548385	0.13312	.	.	ENSG00000184956	ENST00000421673	T	0.28069	1.63	2.52	0.443	0.16587	.	.	.	.	.	T	0.26376	0.0644	M	0.64404	1.975	0.09310	N	1	P	0.37330	0.59	B	0.34138	0.176	T	0.15037	-1.0451	9	0.56958	D	0.05	.	5.5406	0.17036	0.132:0.2038:0.6642:0.0	.	1448	Q6W4X9	MUC6_HUMAN	T	1448	ENSP00000406861:P1448T	ENSP00000406861:P1448T	P	-	1	0	MUC6	1008459	0.009000	0.17119	0.001000	0.08648	0.009000	0.06853	0.061000	0.14366	-0.023000	0.13963	0.306000	0.20318	CCA		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1018459	G	T	1018459	3	4	53	1	0	0	0	0	1	0	0	0	9980	1174	41	5	2989	5	MUC6	11	1018459	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	801755	1018459	133988057	27	5279			1	42		2	2	15	N	G_A	2.62298e-05
MUC6	4588	mdanderson.org	37	chr11	1018473	1018473	+	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	aaggtggaacgtgagtgggaAgtgtggtctcagggtgtgat	9	10	19	3	1	1	2	1	2	1	0	2	4	1	4	0	5	1	0	0	5	3	0	rs112923701		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1018473A>T	ENST00000421673.2	-	31	4378	c.4328T>A	c.(4327-4329)cTt>cAt	p.L1443H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1443	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)		GTGAGTGGGAAGTGTGGTCTC	0.572																																						.											0													284	287	286					11																	1018473		2187	4280	6467	SO:0001583	missense	4588			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.4328T>A	11.37:g.1018473A>T	ENSP00000406861:p.Leu1443His		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	2.872	-0.233789	0.05983	.	.	ENSG00000184956	ENST00000421673	T	0.25414	1.8	1.86	-0.708	0.11241	.	.	.	.	.	T	0.30603	0.0770	L	0.61218	1.895	0.09310	N	1	D	0.63880	0.993	P	0.52881	0.712	T	0.15752	-1.0426	9	0.56958	D	0.05	.	2.8343	0.05509	0.4089:0.2608:0.3303:0.0	.	1443	Q6W4X9	MUC6_HUMAN	H	1443	ENSP00000406861:L1443H	ENSP00000406861:L1443H	L	-	2	0	MUC6	1008473	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.485000	0.02314	-0.173000	0.10761	0.254000	0.18369	CTT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1018473	A	T	1018473	3	4	53	1	0	0	0	0	1	0	0	0	9980	72	3	5	3003	5	MUC6	11	1018473	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	14	1018473	133988043	28	5280			1	42		2	2	15	N	G_A	2.62298e-05
MUC2	4583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	1075670	1075670	+	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	gagggcagaacccgaaaccaCggccacaacgtctgcagcac	13	2	11	15	3	1	1	0	0	1	1	1	3	1	1	3	2	5	3	3	2	3	0			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1075670C>T	ENST00000441003.2	+	2	123	c.96C>T	c.(94-96)caC>caT	p.H32H	MUC2_ENST00000359061.5_Silent_p.H32H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	32					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)	CCCGAAACCACGGCCACAACG	0.652																																						.											0													30	35	33					11																	1075670		2136	4231	6367	SO:0001819	synonymous_variant	4583			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.96C>T	11.37:g.1075670C>T			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1075670	C	T	1075670	2	4	53	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1075670	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10	57197	1075670	133930846	29	5281											
ZDHHC13	54503	broad.mit.edu	37	chr11	19170858	19170858	+	Missense_Mutation	SNP	T	T	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	aacacatgcctattatagcaTatctcatctcaaagggacag	15	10	6	10	0	2	0	2	0	2	0	4	1	2	1	1	1	3	1	1	1	6	4			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:19170858T>C	ENST00000446113.2	+	5	620	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.Y37H|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	167					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						TATTATAGCATATCTCATCTC	0.408																																						.											0													77	67	70					11																	19170858		1880	4111	5991	SO:0001583	missense	54503			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.499T>C	11.37:g.19170858T>C	ENSP00000400113:p.Tyr167His		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582144	0.86748	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.66460	-0.21;-0.18	5.79	5.79	0.91817	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79356	-0.1837	9	.	.	.	-11.0759	15.7882	0.78326	0.0:0.0:0.0:1.0	.	167	Q8IUH4	ZDH13_HUMAN	H	167;37	ENSP00000400113:Y167H;ENSP00000382288:Y37H	.	Y	+	1	0	ZDHHC13	19127434	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.698000	0.84413	2.205000	0.71048	0.455000	0.32223	TAT		0.408	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		C	19170858	T	C	19170858	3	2	53	1	0	0	0	0	1	0	0	0	17600	1406	49	4	517	4	ZDHHC13	11	19170858	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	18095188	19170858	115835658	30	5282											
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	117307845	117307845	+	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	ccttgcgactcactgccatcGtagtccagggtggcgaactg	7	9	12	13	3	1	0	1	0	0	0	3	2	2	0	3	2	3	1	3	2	2	2			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:117307845G>A	ENST00000321322.6	-	26	4894	c.4893C>T	c.(4891-4893)taC>taT	p.Y1631Y	DSCAML1_ENST00000527706.1_Silent_p.Y1361Y	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1571					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)		CACTGCCATCGTAGTCCAGGG	0.592																																						.											0													69	64	66					11																	117307845		2201	4296	6497	SO:0001819	synonymous_variant	57453				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.4893C>T	11.37:g.117307845G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117307845	G	A	117307845	2	1	53	1	0	0	0	0	0	0	0	1	4769	1140	40	1		1	DSCAML1	11	117307845	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	98136987	117307845	17698671	31	5283											
CHD4	1108	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	6702730	6702730	+	Missense_Mutation	SNP	T	T	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	tttcaaactcccgctcccagTtgatgatggtagaaagaggg	11	10	11	9	1	1	4	1	2	0	2	3	4	3	4	2	2	1	3	2	2	3	3			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:6702730T>C	ENST00000357008.2	-	16	2529	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_ENST00000544040.1_Missense_Mutation_p.N782S|CHD4_ENST00000544484.1_Missense_Mutation_p.N786S|CHD4_ENST00000309577.6_Missense_Mutation_p.N789S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	789	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						CCGCTCCCAGTTGATGATGGT	0.532																																					Colon(32;586 792 4568 16848 45314)	.											0													98	95	96					12																	6702730		2203	4300	6503	SO:0001583	missense	1108			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.2366A>G	12.37:g.6702730T>C	ENSP00000349508:p.Asn789Ser		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374532	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	4.8	4.8	0.61643	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.91196	3.185	0.80722	D	1	D;D;D	0.76494	0.999;0.974;0.996	D;P;D	0.77557	0.99;0.897;0.98	D	0.98107	1.0418	10	0.87932	D	0	-0.1448	14.5214	0.67853	0.0:0.0:0.0:1.0	.	789;789;782	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	786;782;789;789;763	ENSP00000440392:N786S;ENSP00000440542:N782S;ENSP00000312419:N789S;ENSP00000349508:N789S	ENSP00000312419:N789S	N	-	2	0	CHD4	6572991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.841000	0.86834	2.017000	0.59298	0.482000	0.46254	AAC		0.532	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		C	6702730	T	C	6702730	3	2	53	1	0	0	0	0	1	0	0	0	3327	1725	60	2	3472	2	CHD4	12	6702730	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10		6702730	127149165	32	5284											
DPPA3	359787	broad.mit.edu	37	chr12	7868798	7868798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcccatgaagcatgAaagaagaccaacaaacaagg	17	9	7	8	0	0	4	0	2	0	2	1	4	1	4	2	1	3	1	2	1	6	3			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:7868798A>G	ENST00000345088.2	+	3	449	c.332A>G	c.(331-333)gAa>gGa	p.E111G		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	111					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ATGAAGCATGAAAGAAGACCA	0.294																																						.											0													47	53	51					12																	7868798		2203	4300	6503	SO:0001583	missense	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.332A>G	12.37:g.7868798A>G	ENSP00000339250:p.Glu111Gly		Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	A	5.779	0.327999	0.10956	.	.	ENSG00000187569	ENST00000345088	T	0.47177	0.85	2.12	-0.41	0.12374	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B	0.30889	0.299	B	0.30029	0.11	T	0.18241	-1.0343	9	0.72032	D	0.01	-3.4822	2.5685	0.04789	0.5393:0.2872:0.1735:0.0	.	111	Q6W0C5	DPPA3_HUMAN	G	111	ENSP00000339250:E111G	ENSP00000339250:E111G	E	+	2	0	DPPA3	7760065	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.090000	0.15025	-0.092000	0.12417	-0.782000	0.03352	GAA		0.294	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		G	7868798	A	G	7868798	3	3	53	1	0	0	0	0	1	0	0	0	4735	246	9	4	342	4	DPPA3	12	7868798	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	1166068	7868798	125983097	33	5285											
HNF1A	6927	broad.mit.edu	37	chr12	121426736	121426736	+	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	ccactggcctcaaccagtccCacctgtcccaacacctcaac	10	6	4	21	0	2	0	2	0	0	0	4	0	4	0	7	1	3	0	7	1	3	0			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:121426736C>T	ENST00000257555.6	+	2	653	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	HNF1A_ENST00000544413.1_Missense_Mutation_p.H143Y|HNF1A_ENST00000402929.1_Missense_Mutation_p.H143Y|HNF1A_ENST00000400024.2_Missense_Mutation_p.H143Y|HNF1A_ENST00000543427.1_Missense_Mutation_p.H26Y|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Missense_Mutation_p.H143Y			P20823	HNF1A_HUMAN	HNF1 homeobox A	143	Interaction with DNA.		H -> Y (in MODY3; expected to interfere with DNA binding). {ECO:0000269|PubMed:10102714, ECO:0000269|PubMed:9075819}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACCAGTCCCACCTGTCCCA	0.632									Hepatic Adenoma, Familial Clustering of																													.											0			GRCh37	CD083323|CM971449	HNF1A	D|M							167	124	139					12																	121426736		2203	4300	6503	SO:0001583	missense	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.427C>T	12.37:g.121426736C>T	ENSP00000257555:p.His143Tyr		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597685	0.87055	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78	5.08	5.08	0.68730	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.97110	1.0;0.987;0.999;0.999	D	0.99892	1.1137	10	0.87932	D	0	-14.2594	17.4482	0.87584	0.0:1.0:0.0:0.0	.	143;143;143;143	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	Y	143;143;143;143;143;143;26;143;143;143;143;143	ENSP00000257555:H143Y;ENSP00000439721:H26Y;ENSP00000443112:H143Y;ENSP00000438804:H143Y	ENSP00000257555:H143Y	H	+	1	0	HNF1A	119911119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.429000	0.80309	2.348000	0.79779	0.530000	0.56133	CAC		0.632	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		T	121426736	C	T	121426736	3	4	53	1	0	0	0	0	1	0	0	0	7251	594	21	4	433	4	HNF1A	12	121426736	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	113557938	121426736	12425159	34	5286											
KNTC1	9735	broad.mit.edu	37	chr12	123075242	123075242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtttgaaaatctctggaAgctcatagataaagcatggc	13	12	10	6	0	2	2	1	1	1	1	3	3	2	3	0	2	2	3	0	2	6	3			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:123075242A>G	ENST00000333479.7	+	41	4265	c.4088A>G	c.(4087-4089)aAg>aGg	p.K1363R	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1363					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)		AATCTCTGGAAGCTCATAGAT	0.403																																						.											0													163	152	156					12																	123075242		1859	4090	5949	SO:0001583	missense	9735				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.4088A>G	12.37:g.123075242A>G	ENSP00000328236:p.Lys1363Arg		A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216136	0.58452	.	.	ENSG00000184445	ENST00000333479	T	0.13778	2.56	5.6	5.6	0.85130	.	0.437138	0.28577	N	0.014851	T	0.14227	0.0344	L	0.56769	1.78	0.80722	D	1	B	0.33583	0.418	B	0.29942	0.109	T	0.05131	-1.0904	10	0.26408	T	0.33	-12.7695	11.7177	0.51663	0.9289:0.0:0.0711:0.0	.	1363	P50748	KNTC1_HUMAN	R	1363	ENSP00000328236:K1363R	ENSP00000328236:K1363R	K	+	2	0	KNTC1	121641195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.660000	0.68018	2.140000	0.66376	0.477000	0.44152	AAG		0.403	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			G	123075242	A	G	123075242	3	3	53	1	0	0	0	0	1	0	0	0	8428	72	3	2	4246	2	KNTC1	12	123075242	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	1648506	123075242	10776653	35	5287											
POTEM	641455	broad.mit.edu	37	chr14	20019957	20019957	+	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	ctgagtgtcttcatagcagaGtcgtcgtggtctccagaagt	8	12	12	9	2	3	3	1	1	2	2	6	3	3	3	1	1	1	1	1	1	2	2	rs28578761		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr14:20019957G>A	ENST00000551509.1	-	1	315	c.264C>T	c.(262-264)gaC>gaT	p.D88D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	88								p.D88D(2)		endometrium(4)|kidney(1)|lung(4)	9						TCATAGCAGAGTCGTCGTGGT	0.627																																						.											2	Substitution - coding silent(2)	kidney(2)											8	15	13					14																	20019957		319	1136	1455	SO:0001819	synonymous_variant	641455				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.264C>T	14.37:g.20019957G>A				Silent	SNP	ENST00000551509.1	37	CCDS45076.1																																																																																				0.627	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		A	20019957	G	A	20019957	2	1	53	1	0	0	0	0	0	0	0	1	12268	1020	36	4		4	POTEM	14	20019957	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10		20019957	87329583	36	5288											
SIX4	51804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	61186805	61186805	+	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	agtagaccccagtatgtcagTcatggatataccattgctca	12	11	8	10	0	3	1	3	0	0	1	3	2	3	2	3	1	2	3	3	1	4	5			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr14:61186805T>A	ENST00000216513.4	-	2	1281	c.1222A>T	c.(1222-1224)Act>Tct	p.T408S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	408					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)		AGTATGTCAGTCATGGATATA	0.463																																						.											0													133	108	116					14																	61186805		2203	4300	6503	SO:0001583	missense	51804			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.1222A>T	14.37:g.61186805T>A	ENSP00000216513:p.Thr408Ser		Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897604	0.52121	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90620	-2.7;0.82	5.72	4.59	0.56863	.	0.202408	0.42053	N	0.000764	T	0.80969	0.4726	N	0.19112	0.55	0.20975	N	0.999816	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.65076	-0.6256	10	0.23302	T	0.38	.	8.4514	0.32873	0.0:0.1448:0.0:0.8552	.	400;408	G3V2N2;Q9UIU6	.;SIX4_HUMAN	S	408;81;400	ENSP00000216513:T408S;ENSP00000451537:T81S	ENSP00000216513:T408S	T	-	1	0	SIX4	60256558	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	1.638000	0.37165	2.194000	0.70268	0.533000	0.62120	ACT		0.463	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			A	61186805	T	A	61186805	3	1	53	1	0	0	0	0	1	0	0	0	14349	1667	58	5	1131	5	SIX4	14	61186805	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	41166848	61186805	46162735	37	5289											
FAM98B	283742	broad.mit.edu	37	chr15	38776624	38776626	+	IGR	DEL	AGA	AGA	-																															gtggtgggggtgggggtgggAgaggtggctgggggggtgga																										TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:38776624_38776626delAGA	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_In_Frame_Del_p.R356del	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)		tgggggtgggagaggtggctggg	0.68																																						.											0																																										SO:0001628	intergenic_variant	283742				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.38776624_38776626delAGA			A8MUW5|Q8N935	In_Frame_Del	DEL	ENST00000491535.1	37	CCDS42015.1																																																																																				0.68	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		-	38776626	AGA	-	38776624	6	5	53	0	1	1	0	1	0	0	0	0	5657	296	11	0		0	FAM98B	15	38776624	IGR	DEL	AGA	TCGA-KO-8403-01A-11D-2310-10		38776624	63754768	38	5290											
SPTBN5	51332	mdanderson.org	37	chr15	42159290	42159290	+	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	ggtcccgcacccgggggcgcCggagcgtcttcagccgctca	4	5	15	17	6	3	0	2	0	1	0	4	1	4	1	4	4	2	2	4	4	0	1	rs2290553	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:42159290C>T	ENST00000320955.6	-	36	6574	c.6347G>A	c.(6346-6348)cGg>cAg	p.R2116Q	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2116					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)		CCGGGGGCGCCGGAGCGTCTT	0.736													c|||	711	0.141973	0.034	0.1671	5008	,	,		14161	0.0446		0.2833	False		,,,				2504	0.2249					.											0								C	GLN/ARG	191,3125		13,165,1480	3	4	4		6242	-4.3	0	15	dbSNP_100	4	1708,5692		230,1248,2222	no	missense	SPTBN5	NM_016642.2	43	243,1413,3702	TT,TC,CC		23.0811,5.76,17.7212	possibly-damaging	2081/3640	42159290	1899,8817	1658	3700	5358	SO:0001583	missense	51332			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.6347G>A	15.37:g.42159290C>T	ENSP00000317790:p.Arg2116Gln			Missense_Mutation	SNP	ENST00000320955.6	37		308	0.14102564102564102	20	0.04065040650406504	61	0.1685082872928177	19	0.033216783216783216	208	0.27440633245382584	.	9.097	1.003238	0.19121	0.0576	0.230811	ENSG00000137877	ENST00000320955	T	0.47177	0.85	4.61	-4.26	0.03755	.	1.848070	0.02996	N	0.147432	T	0.00012	0.0000	N	0.25647	0.755	0.80722	P	0.0	B	0.25743	0.133	B	0.17098	0.017	T	0.09292	-1.0681	9	0.14252	T	0.57	.	6.4787	0.22051	0.0:0.4092:0.1605:0.4303	rs2290553;rs17736981	2116	Q9NRC6	SPTN5_HUMAN	Q	2116	ENSP00000317790:R2116Q	ENSP00000317790:R2116Q	R	-	2	0	SPTBN5	39946582	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.487000	0.06505	-0.666000	0.05310	-0.389000	0.06534	CGG		0.736	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42159290	C	T	42159290	3	4	53	1	0	0	0	0	1	0	0	0	15121	652	23	1	4809	1	SPTBN5	15	42159290	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	3382666	42159290	60372102	39	5291											
MTFMT	123263	hgsc.bcm.edu	37	chr15	65321780	65321780	+	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	ccgcagcgcctcgcgggcgaActggtccgtgccgaagaaga	8	4	15	14	7	0	2	0	0	0	2	2	4	1	2	4	2	3	1	4	2	3	0	rs188718836	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:65321780A>T	ENST00000220058.4	-	1	185	c.172T>A	c.(172-174)Ttc>Atc	p.F58I	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	58						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TCGCGGGCGAACTGGTCCGTG	0.761													A|||	27	0.00539137	8e-04	0.0058	5008	,	,		9222	0		0.0119	False		,,,				2504	0.0102					.											0								A	ILE/PHE	5,2325		0,5,1160	2	3	2		172	3.6	0.5	15		2	49,5611		0,49,2781	yes	missense	MTFMT	NM_139242.3	21	0,54,3941	TT,TA,AA		0.8657,0.2146,0.6758	probably-damaging	58/390	65321780	54,7936	1165	2830	3995	SO:0001583	missense	123263			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.172T>A	15.37:g.65321780A>T	ENSP00000220058:p.Phe58Ile		B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	10	0.004578754578754579	0	0.0	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	A	20.5	3.997572	0.74818	0.002146	0.008657	ENSG00000103707	ENST00000220058;ENST00000543678	T;T	0.77877	-1.13;-1.13	4.83	3.62	0.41486	Formyl transferase, N-terminal (2);	0.049940	0.85682	D	0.000000	T	0.78629	0.4313	M	0.66378	2.025	0.42564	D	0.993154	D	0.57899	0.981	D	0.63033	0.91	T	0.82299	-0.0526	10	0.87932	D	0	-19.2998	8.2755	0.31871	0.8231:0.0:0.0:0.1769	.	58	Q96DP5	FMT_HUMAN	I	58	ENSP00000220058:F58I;ENSP00000443754:F58I	ENSP00000220058:F58I	F	-	1	0	MTFMT	63108833	0.988000	0.35896	0.512000	0.27736	0.150000	0.21749	3.146000	0.50631	1.802000	0.52723	0.528000	0.53228	TTC		0.761	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		T	65321780	A	T	65321780	3	4	53	1	0	0	0	0	1	0	0	0	9924	43	2	5	1033	5	MTFMT	15	65321780	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	23162490	65321780	37209612	40	5292											
IL4R	3566	hgsc.bcm.edu	37	chr16	27374117	27374117	+	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	cgacccagagtccagacaacCtgacttgcacagagacgccc	12	4	9	16	2	0	4	0	1	0	3	1	6	1	4	4	0	2	1	4	0	1	1			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr16:27374117C>T	ENST00000395762.2	+	11	1703	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	IL4R_ENST00000380922.3_Silent_p.L467L|IL4R_ENST00000170630.2_Silent_p.L482L|IL4R_ENST00000543915.2_Silent_p.L482L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	482	Required for IRS1 activation and IL4- induced cell growth.				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						TCCAGACAACCTGACTTGCAC	0.647																																						.											0													85	88	87					16																	27374117		2197	4300	6497	SO:0001819	synonymous_variant	3566			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.1444C>T	16.37:g.27374117C>T			B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																				0.647	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27374117	C	T	27374117	2	4	53	1	0	0	0	0	0	0	0	1	7698	680	24	4		4	IL4R	16	27374117	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10		27374117	62980636	41	5293											
CLEC18B	497190	mdanderson.org	37	chr16	74452114	74452114	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgcagggtgcgccacAggccggacgccaggctcggg	6	4	16	15	4	0	0	0	0	0	0	1	1	0	1	4	5	2	2	4	5	0	1			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr16:74452114A>G	ENST00000339953.5	-	3	420	c.299T>C	c.(298-300)cTg>cCg	p.L100P		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	100	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGCGCCACAGGCCGGACGC	0.657																																						.											0													17	19	18					16																	74452114		2004	4114	6118	SO:0001583	missense	497190			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.299T>C	16.37:g.74452114A>G	ENSP00000341051:p.Leu100Pro		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	N	3.509	-0.100105	0.07010	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492	T	0.07444	3.19	3.27	-0.271	0.12922	CAP domain (3);	0.580703	0.17352	N	0.177375	T	0.02418	0.0074	N	0.04090	-0.28	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42120	-0.9470	10	0.14252	T	0.57	.	0.6793	0.00872	0.2475:0.184:0.3812:0.1874	.	100;100	C9JSV1;Q6UXF7	.;CL18B_HUMAN	P	100	ENSP00000341051:L100P	ENSP00000268492:L100P	L	-	2	0	CLEC18B	73009615	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.068000	0.11561	0.104000	0.17725	-1.160000	0.01791	CTG		0.657	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		G	74452114	A	G	74452114	3	3	53	1	0	0	0	0	1	0	0	0	3503	188	7	2	1112	2	CLEC18B	16	74452114	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	47077997	74452114	15902639	42	5294											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7577139	7577139	+	Missense_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	acgcacctcaaagctgttccGtcccagtagattaccactac	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	3	4	4	0	4	4	rs55832599		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:7577139G>A	ENST00000269305.4	-	8	988	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267W	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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	AAGCTGTTCCGTCCCAGTAGA	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)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	50	Substitution - Missense(26)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(3)|Substitution - coding silent(1)	large_intestine(9)|central_nervous_system(9)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thymus(1)|breast(1)|skin(1)|eye(1)|prostate(1)											51	45	47					17																	7577139		2203	4300	6503	SO:0001583	missense	7157	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;	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.799C>T	17.37:g.7577139G>A	ENSP00000269305:p.Arg267Trp		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	22.6	4.307537	0.81247	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.13	4.15	0.48705	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99862	0.9935	M	0.90759	3.145	0.58432	D	0.999999	D;D;D;P	0.89917	0.974;1.0;0.979;0.876	P;D;P;P	0.91635	0.703;0.999;0.868;0.728	D	0.96589	0.9436	10	0.87932	D	0	-8.7531	12.741	0.57253	0.0:0.0:0.8346:0.1654	rs55832599	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	267;267;267;267;267;256;135	ENSP00000352610:R267W;ENSP00000269305:R267W;ENSP00000398846:R267W;ENSP00000391127:R267W;ENSP00000391478:R267W;ENSP00000425104:R135W	ENSP00000269305:R267W	R	-	1	2	TP53	7517864	0.998000	0.40836	0.876000	0.34364	0.812000	0.45895	2.565000	0.45939	1.360000	0.45960	0.462000	0.41574	CGG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577139	G	A	7577139	3	1	53	1	0	0	0	0	1	0	0	0	16378	1144	40	1	487	1	TP53	17	7577139	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10		7577139	73618071	43	5295											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	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	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	5	10	16	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)	GGTGAGGATGGGCCTCCGGTT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(1)	GRCh37	CM973401	TP53	M							154	112	126					17																	7577532		2203	4300	6503	SO:0001583	missense	7157	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;	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.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu		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	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	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	0.99898	0.9951	M	0.91406	3.205	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	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577532	G	A	7577532	3	1	53	1	0	0	0	0	1	0	0	0	16378	1232	43	3	541	3	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	393	7577532	73617678	44	5296											
ARL16	339231	mdanderson.org	37	chr17	79650828	79650828	+	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	ccgtagctcggcgccgcggcTcaaggcccgcccaccggcca	5	3	13	20	7	1	0	1	0	0	0	2	0	1	0	6	4	1	3	6	4	2	1	rs8066889	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:79650828T>G	ENST00000397498.4	-	1	126	c.28A>C	c.(28-30)Agc>Cgc	p.S10R	ARL16_ENST00000573392.1_5'Flank|HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000576135.1_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	10			S -> R (in dbSNP:rs8066889).		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)			GCGCCGCGGCTCAAGGCCCGC	0.632													G|||	1243	0.248203	0.3578	0.1556	5008	,	,		12437	0.2292		0.2604	False		,,,				2504	0.1728					.											0								G	ARG/SER	1280,2528		237,806,861	14	17	16		28	0.8	0	17	dbSNP_116	16	1807,6371		212,1383,2494	yes	missense	ARL16	NM_001040025.1	110	449,2189,3355	GG,GT,TT		22.0959,33.6134,25.755	benign	10/198	79650828	3087,8899	1904	4089	5993	SO:0001583	missense	339231				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.28A>C	17.37:g.79650828T>G	ENSP00000380635:p.Ser10Arg			Missense_Mutation	SNP	ENST00000397498.4	37	CCDS45813.1	573	0.2623626373626374	193	0.39227642276422764	62	0.1712707182320442	135	0.23601398601398602	183	0.24142480211081793	G	10.73	1.431804	0.25813	0.336134	0.220959	ENSG00000214087	ENST00000397498	T	0.70749	-0.51	4.35	0.805	0.18703	.	0.727362	0.09205	U	0.834153	T	0.00012	0.0000	L	0.34521	1.04	0.51012	P	9.199999999998099E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.26224	-1.0109	9	0.72032	D	0.01	.	8.4458	0.32841	0.0:0.133:0.4606:0.4064	rs8066889;rs59418595;rs8066889	10	Q0P5N6	ARL16_HUMAN	R	10	ENSP00000380635:S10R	ENSP00000380635:S10R	S	-	1	0	ARL16	77261233	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	0.878000	0.28126	0.263000	0.21812	-0.121000	0.15023	AGC		0.632	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777		G	79650828	T	G	79650828	3	3	53	1	0	0	0	0	1	0	0	0	932	1551	54	5	585	5	ARL16	17	79650828	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	72073296	79650828	1544382	45	5297											
TCEB3B	51224	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	44561017	44561017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctggcagcctggacacaGcagaggcccgccctgagccg	7	3	14	17	2	0	2	0	1	0	1	0	3	0	3	5	3	3	2	5	3	0	0			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr18:44561017G>T	ENST00000332567.4	-	1	971	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	207					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						CCTGGACACAGCAGAGGCCCG	0.687																																						.											0													25	28	27					18																	44561017		2203	4298	6501	SO:0001583	missense	51224			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.619C>A	18.37:g.44561017G>T	ENSP00000331302:p.Leu207Met		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100122	0.20552	.	.	ENSG00000206181	ENST00000332567	T	0.07908	3.15	2.09	-2.03	0.07365	.	2.719630	0.01724	N	0.028476	T	0.17195	0.0413	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	D	0.64877	0.93	T	0.18999	-1.0319	10	0.36615	T	0.2	6.0E-4	3.4497	0.07494	0.1594:0.0:0.286:0.5546	.	207	Q8IYF1	ELOA2_HUMAN	M	207	ENSP00000331302:L207M	ENSP00000331302:L207M	L	-	1	2	TCEB3B	42815015	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.247000	0.32815	-0.515000	0.06479	-0.521000	0.04368	CTG		0.687	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44561017	G	T	44561017	3	4	53	1	0	0	0	0	1	0	0	0	15679	962	34	5	1646	5	TCEB3B	18	44561017	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10		44561017	33516231	46	5298											
MUC16	94025	mdanderson.org	37	chr19	9012840	9012840	+	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	gggtgatgcatgtcctcctcGtactgcaggttggtgatggt	5	13	15	8	1	0	2	0	2	0	0	3	2	2	2	2	4	3	4	2	4	1	2	rs4992692		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:9012840G>A	ENST00000397910.4	-	34	38807	c.38604C>T	c.(38602-38604)taC>taT	p.Y12868Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12870	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTCCTCGTACTGCAGGT	0.582																																						.											0													248	208	221					19																	9012840		2025	4191	6216	SO:0001819	synonymous_variant	94025			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.38604C>T	19.37:g.9012840G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9012840	G	A	9012840	2	1	53	1	0	0	0	0	0	0	0	1	9973	1140	40	1		1	MUC16	19	9012840	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10		9012840	50116143	47	5299											
ZNF846	162993	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	9869291	9869291	+	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	ttgtaaaaactatgaggaaaGttctttcttaaggcttttcc	12	16	7	6	0	2	1	0	1	2	0	3	2	3	2	1	2	1	3	1	2	6	8			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:9869291G>C	ENST00000397902.2	-	6	875	c.462C>G	c.(460-462)aaC>aaG	p.N154K	ZNF846_ENST00000592859.1_Missense_Mutation_p.N25K|ZNF846_ENST00000588267.1_Missense_Mutation_p.N25K|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	154					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(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TATGAGGAAAGTTCTTTCTTA	0.368																																						.											0													114	108	110					19																	9869291		1817	4087	5904	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.462C>G	19.37:g.9869291G>C	ENSP00000380999:p.Asn154Lys		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	0.854	-0.737634	0.03111	.	.	ENSG00000196605	ENST00000397902	T	0.05447	3.44	1.78	-0.534	0.11883	.	.	.	.	.	T	0.02494	0.0076	N	0.05177	-0.1	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.47861	-0.9084	8	.	.	.	.	3.8225	0.08841	0.1567:0.0:0.6063:0.237	.	154	Q147U1	ZN846_HUMAN	K	154	ENSP00000380999:N154K	.	N	-	3	2	ZNF846	9730291	0.000000	0.05858	0.012000	0.15200	0.126000	0.20510	-3.089000	0.00610	-0.052000	0.13311	0.558000	0.71614	AAC		0.368	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		C	9869291	G	C	9869291	3	2	53	1	0	0	0	0	1	0	0	0	18189	1020	36	5	1143	5	ZNF846	19	9869291	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10	856451	9869291	49259692	48	5300											
HRC	3270	broad.mit.edu;hgsc.bcm.edu	37	chr19	49656872	49656872	+	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	tcttcttcctcctcctcctcCtccttgtcttcctcttcttc	0	20	1	20	0	5	0	0	0	5	0	13	0	12	0	7	0	0	0	7	0	0	6			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:49656872C>T	ENST00000252825.4	-	1	1809	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	HRC_ENST00000595625.1_Silent_p.E541E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	541					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)		cctcctcctcctccttgtctt	0.612																																					Melanoma(37;75 1097 24567 25669 30645)	.											0													57	31	40					19																	49656872		2203	4300	6503	SO:0001819	synonymous_variant	3270				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.1623G>A	19.37:g.49656872C>T			Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																				0.612	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		T	49656872	C	T	49656872	2	4	53	1	0	0	0	0	0	0	0	1	7352	680	24	4		4	HRC	19	49656872	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10	39787581	49656872	9472111	49	5301											
PTOV1	53635	broad.mit.edu	37	chr19	50360994	50360996	+	In_Frame_Del	DEL	CAA	CAA	-																															tcaggcccagtccagatcgtCaacaacaagtttctggcatg																										TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:50360994_50360996delCAA	ENST00000601675.1	+	7	863_865	c.759_761delCAA	c.(757-762)gtcaac>gtc	p.N255del	AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000221557.9_In_Frame_Del_p.N223del|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000391842.1_In_Frame_Del_p.N255del|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000601638.1_In_Frame_Del_p.N223del|PTOV1_ENST00000600603.1_In_Frame_Del_p.N223del|PTOV1_ENST00000599732.1_In_Frame_Del_p.N255del|AC018766.6_ENST00000601211.1_RNA|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	255	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCCAGATCGTCAACAACAAGTTT	0.616																																						.											0										2,4262		1,0,2131						4	1			92	2,8252		0,2,4125	no	coding	PTOV1	NM_017432.3		1,2,6256	A1A1,A1R,RR		0.0242,0.0469,0.032				4,12514				SO:0001651	inframe_deletion	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.759_761delCAA	19.37:g.50361000_50361002delCAA	ENSP00000472816:p.Asn255del		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	In_Frame_Del	DEL	ENST00000601675.1	37	CCDS12782.1																																																																																				0.616	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		-	50360996	CAA	-	50360994	7	5	53	1	0	1	0	1	0	0	0	0	12769	813	29	0	785	0	PTOV1	19	50360994	In_Frame_Del	DEL	CAA	TCGA-KO-8403-01A-11D-2310-10	704122	50360994	8767989	50	5302											
SIGLEC10	89790	mdanderson.org	37	chr19	51919235	51919235	+	Missense_Mutation	SNP	T	T	C																															agcgccctgaatccccagccTtcaccccgggcagctccagc																								rs201089294	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:51919235T>C	ENST00000339313.5	-	5	1057	c.941A>G	c.(940-942)aAg>aGg	p.K314R	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.K256R|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.K314R|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.K314R|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.K256R|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.K231R|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.K266R|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	314	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)		ATCCCCAGCCTTCACCCCGGG	0.672													t|||	19	0.00379393	0.0015	0.0058	5008	,	,		16797	0		0.0089	False		,,,				2504	0.0041					.											0													39	44	42					19																	51919235		2203	4300	6503	SO:0001583	missense	89790			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.941A>G	19.37:g.51919235T>C	ENSP00000345243:p.Lys314Arg		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	9.301	1.052988	0.19907	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000356298;ENST00000441969;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.37	-1.6	0.08426	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.681650	0.03351	N	0.196151	T	0.58337	0.2115	L	0.37507	1.11	0.09310	N	1	B;P;P;B;B;B	0.36125	0.213;0.538;0.482;0.178;0.218;0.395	B;P;B;B;B;B	0.44921	0.346;0.464;0.333;0.234;0.25;0.208	T	0.39418	-0.9615	10	0.27082	T	0.32	.	0.8962	0.01264	0.1846:0.1837:0.3756:0.2561	.	266;314;314;256;256;314	C9JM10;B7ZL04;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;SIG10_HUMAN	R	314;231;314;256;256;266;314;128	ENSP00000342389:K314R;ENSP00000396742:K231R;ENSP00000348646:K314R;ENSP00000408387:K256R;ENSP00000389132:K256R;ENSP00000414324:K266R;ENSP00000345243:K314R;ENSP00000435281:K128R	ENSP00000345243:K314R	K	-	2	0	SIGLEC10	56611047	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.007000	0.12810	-0.440000	0.07211	0.260000	0.18958	AAG		0.672	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		C	51919235	T	C	51919235	3	2	53	1	0	0	0	0	1	0	0	0	14306	1609	56	2	1180	2	SIGLEC10	19	51919235	Missense_Mutation	SNP	T	TCGA-KO-8403-01A-11D-2310-10	1558241	51919235	7209748	51	5303	134	2									
SIGLEC10	89790	mdanderson.org	37	chr19	51919243	51919243	+	Silent	SNP	G	G	A																															gaatccccagccttcaccccGggcagctccagccccagggg																								rs199660336	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:51919243G>A	ENST00000339313.5	-	5	1049	c.933C>T	c.(931-933)ccC>ccT	p.P311P	SIGLEC10_ENST00000439889.2_Silent_p.P253P|SIGLEC10_ENST00000353836.5_Silent_p.P311P|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.P311P|SIGLEC10_ENST00000441969.3_Silent_p.P253P|SIGLEC10_ENST00000432469.2_Silent_p.P228P|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Silent_p.P263P|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	311	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)		CCTTCACCCCGGGCAGCTCCA	0.667																																						.											0													34	39	37					19																	51919243		2203	4300	6503	SO:0001819	synonymous_variant	89790			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.933C>T	19.37:g.51919243G>A			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	51919243	G	A	51919243	2	1	53	1	0	0	0	0	0	0	0	1	14306	1103	39	1		1	SIGLEC10	19	51919243	Silent	SNP	G	TCGA-KO-8403-01A-11D-2310-10	8	51919243	7209740	52	5304	134	2									
ZNF468	90333	ucsc.edu	37	chr19	53352380	53352380	+	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	taattctccagcatcacgtcCctgtataaagtcctctgagc	10	12	6	13	1	3	1	1	1	2	0	6	1	5	1	3	0	2	2	3	0	4	4	rs568961044	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:53352380C>T	ENST00000595646.1	-	3	222	c.102G>A	c.(100-102)agG>agA	p.R34R	ZNF468_ENST00000243639.4_Silent_p.R34R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_5'UTR|ZNF468_ENST00000390651.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GCATCACGTCCCTGTATAAAG	0.473													-|||	6	0.00119808	8e-04	0	5008	,	,		18410	0.001		0.004	False		,,,				2504	0					.											0													147	149	148					19																	53352380		2203	4300	6503	SO:0001819	synonymous_variant	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.102G>A	19.37:g.53352380C>T			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	CCDS33094.1																																																																																				0.473	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		T	53352380	C	T	53352380	2	4	53	1	0	0	0	0	0	0	0	1	17925	622	22	3		3	ZNF468	19	53352380	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10	1433137	53352380	5776603	53	5305											
ZNF419	79744	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	58004570	58004570	+	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	gggaaagcctttggtcagaaAtatttacttgttcagcacca	12	12	9	8	0	2	1	2	0	0	1	2	2	2	2	2	2	3	2	2	2	4	6			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:58004570A>C	ENST00000221735.7	+	5	831	c.645A>C	c.(643-645)aaA>aaC	p.K215N	AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.K203N|ZNF419_ENST00000354197.4_Missense_Mutation_p.K203N|ZNF419_ENST00000347466.6_Missense_Mutation_p.K183N|ZNF419_ENST00000415379.2_Missense_Mutation_p.K169N|ZNF419_ENST00000424930.2_Missense_Mutation_p.K216N|ZNF419_ENST00000442920.2_Missense_Mutation_p.K202N			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTGGTCAGAAATATTTACTTG	0.413																																						.											0													64	67	66					19																	58004570		2201	4300	6501	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.645A>C	19.37:g.58004570A>C	ENSP00000221735:p.Lys215Asn		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	A	7.539	0.660263	0.14645	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	2.36	0.144	0.14824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27967	0.0689	N	0.20328	0.56	0.09310	N	1	B;B;B;B;B;B;B	0.15930	0.001;0.006;0.015;0.006;0.002;0.012;0.002	B;B;B;B;B;B;B	0.15484	0.003;0.009;0.013;0.009;0.002;0.013;0.002	T	0.24977	-1.0145	9	0.06757	T	0.87	.	4.4449	0.11593	0.5962:0.1799:0.2239:0.0	.	169;169;202;203;216;183;215	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	N	218;216;203;203;202;216;183;169;215	ENSP00000388864:K216N;ENSP00000390916:K203N;ENSP00000346136:K203N;ENSP00000414709:K202N;ENSP00000299860:K183N;ENSP00000392129:K169N;ENSP00000221735:K215N	ENSP00000221735:K215N	K	+	3	2	ZNF419	62696382	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-4.071000	0.00301	-0.233000	0.09797	-1.203000	0.01651	AAA		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		C	58004570	A	C	58004570	3	2	53	1	0	0	0	0	1	0	0	0	17893	98	4	5	666	5	ZNF419	19	58004570	Missense_Mutation	SNP	A	TCGA-KO-8403-01A-11D-2310-10	4652190	58004570	1124413	54	5306											
ZNF497	162968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	58868487	58868487	+	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	ggatgagctgcgagtgcgcgCggaaggccttgccgcactcc	6	6	16	13	5	0	1	0	1	0	0	1	4	1	3	3	3	4	2	3	3	1	1			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:58868487C>T	ENST00000311044.3	-	3	703	c.515G>A	c.(514-516)cGc>cAc	p.R172H	A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R172H|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	172					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)		CGAGTGCGCGCGGAAGGCCTT	0.677																																						.											0													31	26	28					19																	58868487		2203	4299	6502	SO:0001583	missense	162968			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.515G>A	19.37:g.58868487C>T	ENSP00000311183:p.Arg172His		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600356	0.46423	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.36157	1.27;1.27	0.813	0.813	0.18749	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	L	0.58925	1.835	0.23120	N	0.998262	B	0.30482	0.281	B	0.30179	0.112	T	0.31943	-0.9925	9	0.52906	T	0.07	.	3.0719	0.06234	0.0:0.6841:0.0:0.3159	.	172	Q6ZNH5	ZN497_HUMAN	H	172;172;17	ENSP00000311183:R172H;ENSP00000402815:R172H	ENSP00000311183:R172H	R	-	2	0	ZNF497	63560299	0.000000	0.05858	0.066000	0.19879	0.379000	0.30106	-3.047000	0.00630	0.715000	0.32103	0.205000	0.17691	CGC		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		T	58868487	C	T	58868487	3	4	53	1	0	0	0	0	1	0	0	0	17943	768	27	1	985	1	ZNF497	19	58868487	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	863917	58868487	260496	55	5307											
SIRPB1	10326	broad.mit.edu	37	chr20	1558987	1558987	+	Missense_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	gcccacgctgtactcaccgcGcacagacagctcagtgcctg	8	6	10	17	3	2	1	2	0	0	1	2	1	2	1	3	0	3	4	3	0	1	1	rs368470461		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr20:1558987G>A	ENST00000381605.4	-	2	494	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552																																						.											0								G	CYS/ARG,CYS/ARG	0,4392		0,0,2196	122	108	113		430,430	-0.3	0	20		113	1,8469		0,1,4234	no	missense,missense	SIRPB1	NM_001083910.2,NM_006065.3	180,180	0,1,6430	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	144/182,144/399	1558987	1,12861	2196	4235	6431	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.430C>T	20.37:g.1558987G>A	ENSP00000371018:p.Arg144Cys		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642351	0.29246	0.0	1.18E-4	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02323	4.34;4.34;4.34	2.36	-0.31	0.12765	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.021760	0.07769	N	0.951360	T	0.06872	0.0175	L	0.49350	1.555	0.09310	N	1	D;D	0.71674	0.998;0.991	P;P	0.56960	0.624;0.81	T	0.40117	-0.9580	10	0.35671	T	0.21	.	6.6051	0.22721	0.0:0.0:0.5263:0.4737	.	144;144	O00241;O00241-2	SIRB1_HUMAN;.	C	144;144;143	ENSP00000371018:R144C;ENSP00000371016:R144C;ENSP00000262929:R143C	ENSP00000262929:R143C	R	-	1	0	SIRPB1	1506987	0.079000	0.21365	0.031000	0.17742	0.058000	0.15608	-0.025000	0.12413	-0.218000	0.10018	-0.521000	0.04368	CGC		0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1558987	G	A	1558987	3	1	53	1	0	0	0	0	1	0	0	0	14333	1087	38	1	782	1	SIRPB1	20	1558987	Missense_Mutation	SNP	G	TCGA-KO-8403-01A-11D-2310-10		1558987	61466533	56	5308											
SYCP2	10388	bcgsc.ca	37	chr20	58461850	58461850	+	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	gatttggcttatcaaggattCtgctacattggtaaattctt	10	17	8	6	0	3	0	1	0	2	0	3	2	3	1	0	3	2	3	0	3	5	8			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr20:58461850C>T	ENST00000357552.3	-	25	2629	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E802K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	802					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATCAAGGATTCTGCTACATTG	0.279																																						.											0													101	94	96					20																	58461850		2200	4292	6492	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2404G>A	20.37:g.58461850C>T	ENSP00000350162:p.Glu802Lys		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431596	0.25813	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.19394	2.42;2.42;2.15	5.53	4.56	0.56223	.	0.467879	0.21706	N	0.070351	T	0.25680	0.0625	L	0.52364	1.645	0.28960	N	0.889902	P	0.44139	0.827	B	0.44044	0.439	T	0.09228	-1.0684	10	0.72032	D	0.01	-13.1563	13.4061	0.60913	0.0:0.8418:0.1581:0.0	.	802	Q9BX26	SYCP2_HUMAN	K	802	ENSP00000360040:E802K;ENSP00000350162:E802K;ENSP00000402456:E802K	ENSP00000350162:E802K	E	-	1	0	SYCP2	57895245	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	1.924000	0.40065	1.292000	0.44672	0.591000	0.81541	GAA		0.279	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58461850	C	T	58461850	3	4	53	1	0	0	0	0	1	0	0	0	15429	922	32	4	2272	4	SYCP2	20	58461850	Missense_Mutation	SNP	C	TCGA-KO-8403-01A-11D-2310-10	56902863	58461850	4563670	57	5309											
YDJC	150223	hgsc.bcm.edu	37	chr22	21982830	21982830	+	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	ccatcctgggcaagctgggcCcgcagcgtgggcgcggtgag	5	5	18	13	4	0	1	0	1	0	0	1	1	1	1	3	4	2	3	3	4	1	0			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:21982830C>T	ENST00000292778.6	-	5	898	c.849G>A	c.(847-849)cgG>cgA	p.R283R	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	283					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAAGCTGGGCCCGCAGCGTGG	0.692																																						.											0													35	35	35					22																	21982830		2203	4300	6503	SO:0001819	synonymous_variant	150223				CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.849G>A	22.37:g.21982830C>T			Q2YDT4|Q4V9R7	Silent	SNP	ENST00000292778.6	37	CCDS33613.1																																																																																				0.692	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			T	21982830	C	T	21982830	2	4	53	1	0	0	0	0	0	0	0	1	17468	610	22	3		3	YDJC	22	21982830	Silent	SNP	C	TCGA-KO-8403-01A-11D-2310-10		21982830	29321736	58	5310											
C22orf28	51493	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	32797733	32797733	+	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	actggaaacgtgtgctcttaCttggcattcattgggatgac	9	13	11	8	1	2	1	1	1	1	0	2	3	2	3	0	3	3	2	0	3	2	4			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:32797733C>A	ENST00000216038.5	-	5	596		c.e5+1		RTCB_ENST00000476619.1_Splice_Site|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		TGTGCTCTTACTTGGCATTCA	0.473																																						.											0													196	146	163					22																	32797733		2203	4300	6503	SO:0001630	splice_region_variant	51493			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"focal adhesion-associated protein"	613901	"chromosome 22 open reading frame 28"	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.497+1G>T	22.37:g.32797733C>A				Splice_Site	SNP	ENST00000216038.5	37	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676466	0.88445	.	.	ENSG00000100220	ENST00000216038	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0344	0.97551	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C22orf28	31127733	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.763000	0.85283	2.803000	0.96430	0.650000	0.86243	.		0.473	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306	Intron	A	32797733	C	A	32797733	5	1	53	1	0	0	0	0	0	0	1	0	2140	579	20	5	1051	5	C22orf28	22	32797733	Splice_Site	SNP	C	TCGA-KO-8403-01A-11D-2310-10	10814903	32797733	18506833	59	5311											
TRIOBP	11078	mdanderson.org	37	chr22	38120429	38120429	+	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	cccaatagagccacacgagaTaaccccagaacatcctgtgc	14	5	7	15	1	0	3	0	0	0	3	1	4	1	3	5	0	4	0	5	0	4	2	rs6000868	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:38120429T>C	ENST00000406386.3	+	7	2121	c.1866T>C	c.(1864-1866)gaT>gaC	p.D622D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	622					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGATAACCCCAGAA	0.587																																						.											0													124	138	134					22																	38120429		1941	4148	6089	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1866T>C	22.37:g.38120429T>C			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																				0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			C	38120429	T	C	38120429	2	2	53	1	0	0	0	0	0	0	0	1	16550	1403	49	4		4	TRIOBP	22	38120429	Silent	SNP	T	TCGA-KO-8403-01A-11D-2310-10	5322696	38120429	13184137	60	5312											
SCNN1D	6339	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	1223338	1223338	+	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	ggacgaggtgcaccggctcgGgagcccctacggccactgca	7	4	15	15	4	0	0	0	0	0	0	1	3	0	2	4	5	4	3	4	5	1	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:1223338G>A	ENST00000338555.2	+	9	2235	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	SCNN1D_ENST00000379116.5_Missense_Mutation_p.G528E|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G364E|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G430E			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	364					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)	CACCGGCTCGGGAGCCCCTAC	0.706																																						.											0													6	8	8					1																	1223338		2002	3976	5978	SO:0001583	missense	6339			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.1091G>A	1.37:g.1223338G>A	ENSP00000339504:p.Gly364Glu		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	G	14.55	2.568255	0.45798	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	3.48	3.48	0.39840	.	0.000000	0.56097	U	0.000028	T	0.73385	0.3580	M	0.72118	2.19	0.29554	N	0.85113	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.976	T	0.71676	-0.4521	10	0.59425	D	0.04	.	14.3265	0.66523	0.0:0.0:1.0:0.0	.	186;364;528	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	E	395;528;364;430;364	ENSP00000368411:G528E;ENSP00000339504:G364E;ENSP00000321594:G430E;ENSP00000383717:G364E	ENSP00000321594:G430E	G	+	2	0	SCNN1D	1213201	0.004000	0.15560	0.112000	0.21494	0.079000	0.17450	0.739000	0.26173	1.676000	0.50930	0.313000	0.20887	GGG		0.706	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		A	1223338	G	A	1223338	3	1	54	1	0	0	0	0	1	0	0	0	13929	1232	43	3	1323	3	SCNN1D	1	1223338	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10		1223338	248027283	1	5313											
ATAD3C	219293	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr1	1389871	1389871	+	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	gtgcttgaggcgctgcggcaCcccatccaggtagcggcgca	6	6	15	14	4	0	1	0	1	0	0	1	1	1	1	3	4	3	5	3	4	1	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:1389871C>T	ENST00000378785.2	+	4	1364	c.369C>T	c.(367-369)caC>caT	p.H123H		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	123							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)		CGCTGCGGCACCCCATCCAGG	0.667																																						.											0													20	33	29					1																	1389871		692	1591	2283	SO:0001819	synonymous_variant	219293			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.369C>T	1.37:g.1389871C>T			Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.667	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		T	1389871	C	T	1389871	2	4	54	1	0	0	0	0	0	0	0	1	1075	506	18	3		3	ATAD3C	1	1389871	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	166533	1389871	247860750	2	5314											
KIAA0562	9731	ucsc.edu	37	chr1	3753225	3753225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcttacgaatagctggaAgaggccgctcatcgtagggc	11	8	13	9	3	1	1	1	0	0	1	2	3	1	2	1	3	3	4	1	3	6	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:3753225A>G	ENST00000378230.3	-	10	1475	c.1151T>C	c.(1150-1152)cTt>cCt	p.L384P	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	384						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						AATAGCTGGAAGAGGCCGCTC	0.562																																						.											0													72	67	69					1																	3753225		2203	4300	6503	SO:0001583	missense	9731			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.1151T>C	1.37:g.3753225A>G	ENSP00000367476:p.Leu384Pro		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648087	0.87958	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	T;T	0.59502	1.22;0.26	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.76793	0.4037	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78198	-0.2297	10	0.45353	T	0.12	.	15.1098	0.72346	1.0:0.0:0.0:0.0	.	384;384	O60308-3;O60308	.;CE104_HUMAN	P	384;78	ENSP00000367476:L384P;ENSP00000411927:L78P	ENSP00000367476:L384P	L	-	2	0	CEP104	3743085	1.000000	0.71417	0.078000	0.20375	0.323000	0.28346	8.353000	0.90077	2.154000	0.67381	0.528000	0.53228	CTT		0.562	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		G	3753225	A	G	3753225	3	3	54	1	0	0	0	0	1	0	0	0	8184	72	3	2	1678	2	KIAA0562	1	3753225	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	2363354	3753225	245497396	3	5315											
DFFA	1676	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	10527276	10527276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgataggaggatgaTgctggacagatcttctttca	9	13	10	9	0	4	3	1	2	3	1	5	6	5	6	1	3	1	1	1	3	1	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:10527276T>C	ENST00000377038.3	-	3	479	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	DFFA_ENST00000377036.2_Missense_Mutation_p.I138V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	138					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	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;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGGAGGATGATGCTGGACAGA	0.532																																						.											0													175	164	168					1																	10527276		2203	4300	6503	SO:0001583	missense	1676			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.412A>G	1.37:g.10527276T>C	ENSP00000366237:p.Ile138Val		Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	CCDS118.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235073	0.22626	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.68	4.54	0.55810	DNA fragmentation factor 45kDa, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.70275	2.135	0.49213	D	0.99976	P;D	0.53745	0.828;0.962	B;P	0.53450	0.333;0.726	T	0.65092	-0.6252	9	0.33940	T	0.23	-14.4087	12.6113	0.56552	0.0:0.0:0.1389:0.8611	.	138;138	O00273-2;O00273	.;DFFA_HUMAN	V	138	.	ENSP00000366235:I138V	I	-	1	0	DFFA	10449863	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	3.677000	0.54619	0.967000	0.38186	-0.321000	0.08615	ATC		0.532	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		C	10527276	T	C	10527276	3	2	54	1	0	0	0	0	1	0	0	0	4452	1464	51	4	623	4	DFFA	1	10527276	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	6774051	10527276	238723345	4	5316											
PPT1	5538	broad.mit.edu	37	chr1	40562824	40562825	+	Frame_Shift_Ins	INS	-	-	G																															ccaacggcagcggcgccggcINSgggtccagatgctgcagcgc																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:40562824_40562825insG	ENST00000433473.3	-	1	550_551	c.86_87insC	c.(85-87)ccgfs	p.P29fs	PPT1_ENST00000449045.2_Frame_Shift_Ins_p.P29fs	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	29					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCGGCGCCGGCGGGTCCAGATG	0.609																																						.											0																																										SO:0001589	frameshift_variant	5538			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.87dupC	1.37:g.40562827_40562827dupG	ENSP00000394863:p.Pro29fs		B4DY24|Q6FGQ4	Frame_Shift_Ins	INS	ENST00000433473.3	37	CCDS447.1																																																																																				0.609	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		G	40562825	-	G	40562824	7	5	54	1	0	1	1	0	0	0	0	0	12411	755	27	0	869	0	PPT1	1	40562824	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	30035548	40562824	208687797	5	5317											
SGIP1	84251	mdanderson.org;bcgsc.ca	37	chr1	67154849	67154849	+	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	aggtgcatcatcccctgctcGaccagccactcctttggttc	6	11	8	16	1	1	0	1	0	0	0	5	1	3	0	5	2	3	3	5	2	0	2	rs542858072	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:67154849G>A	ENST00000371037.4	+	16	1411	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	SGIP1_ENST00000371036.3_Missense_Mutation_p.R245Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.R476Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.R246Q|SGIP1_ENST00000371035.3_Missense_Mutation_p.R235Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	445	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCCCCTGCTCGACCAGCCACT	0.542																																						.											0													212	215	214					1																	67154849		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1334G>A	1.37:g.67154849G>A	ENSP00000360076:p.Arg445Gln		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727703	0.89390	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	6.17	6.17	0.99709	.	0.125931	0.56097	D	0.000029	T	0.11707	0.0285	M	0.70275	2.135	0.54753	D	0.999989	D;D;D;D	0.76494	0.999;0.994;0.994;0.999	D;D;D;D	0.72625	0.978;0.921;0.921;0.978	T	0.05937	-1.0855	10	0.30078	T	0.28	-10.234	19.6509	0.95805	0.0:0.0:1.0:0.0	.	475;45;235;445	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	Q	476;246;235;475;448;245;445	ENSP00000237247:R476Q;ENSP00000360078:R246Q;ENSP00000360074:R235Q;ENSP00000360075:R245Q;ENSP00000360076:R445Q	ENSP00000237247:R476Q	R	+	2	0	SGIP1	66927437	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	8.648000	0.91062	2.941000	0.99782	0.655000	0.94253	CGA		0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		A	67154849	G	A	67154849	3	1	54	1	0	0	0	0	1	0	0	0	14206	1058	37	1	1396	1	SGIP1	1	67154849	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	26592025	67154849	182095772	6	5318											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-																															ggccagaaggagcggcccccGcagcagcagcagcagcagca																								rs113832855|rs373434974		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	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	49	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						AGCGGCCCCCgcagcagcagcag	0.7																																						.											0										633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				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.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del		B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		-	77334279	GCA	-	77334277	7	5	54	1	0	1	0	1	0	0	0	0	15226	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-KO-8404-01A-11D-2310-10	10179428	77334277	171916344	7	5319											
ARHGAP29	9411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	94639723	94639723	+	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	gtggtttataaaatgttgtcCaatgttgaggctgcagtgtt	9	16	12	4	0	0	1	0	1	0	0	1	1	1	1	1	2	1	6	1	2	4	6			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:94639723C>T	ENST00000260526.6	-	23	3670	c.3488G>A	c.(3487-3489)tGg>tAg	p.W1163*	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1163					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATGTTGTCCAATGTTGAGG	0.532																																						.											0													92	80	84					1																	94639723		2203	4300	6503	SO:0001587	stop_gained	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3488G>A	1.37:g.94639723C>T	ENSP00000260526:p.Trp1163*		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Nonsense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	43	10.147914	0.99346	.	.	ENSG00000137962	ENST00000260526	.	.	.	5.49	5.49	0.81192	.	0.000000	0.36002	N	0.002860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1193	19.3644	0.94456	0.0:1.0:0.0:0.0	.	.	.	.	X	1163	.	ENSP00000260526:W1163X	W	-	2	0	ARHGAP29	94412311	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.573000	0.74009	2.596000	0.87737	0.591000	0.81541	TGG		0.532	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		T	94639723	C	T	94639723	4	4	54	1	0	0	0	0	0	1	0	0	878	595	21	4	301	4	ARHGAP29	1	94639723	Nonsense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	17305446	94639723	154610898	8	5320											
IGSF3	3321	mdanderson.org	37	chr1	117158748	117158748	+	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	ctcccaaagtattgcttatcAgtgctgggtgtgtggcattc	7	14	11	9	0	1	0	1	0	0	0	3	0	2	0	1	2	2	4	1	2	3	4	rs199696016		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:117158748A>G	ENST00000369486.3	-	3	1140	c.375T>C	c.(373-375)acT>acC	p.T125T	IGSF3_ENST00000318837.6_Silent_p.T125T|IGSF3_ENST00000369483.1_Silent_p.T125T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	125	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T125T(2)		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)		ATTGCTTATCAGTGCTGGGTG	0.498																																						.											2	Substitution - coding silent(2)	endometrium(2)											62	56	58					1																	117158748		2203	4300	6503	SO:0001819	synonymous_variant	3321			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.375T>C	1.37:g.117158748A>G			A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																				0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		G	117158748	A	G	117158748	2	3	54	1	0	0	0	0	0	0	0	1	7601	175	7	2		2	IGSF3	1	117158748	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	22519025	117158748	132091873	9	5321											
NBPF10	100132406	mdanderson.org	37	chr1	145302775	145302775	+	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	tccaggccctcctcactccgTatgagccggacaagtcccag	8	7	9	17	2	1	1	1	1	0	0	5	2	5	2	6	2	1	1	6	2	2	1	rs376014420		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:145302775T>G	ENST00000369339.3	+	5	653	c.400T>G	c.(400-402)Tat>Gat	p.Y134D	NBPF10_ENST00000369338.1_Missense_Mutation_p.Y134D|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y405D|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	405						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)		CCTCACTCCGTATGAGCCGGA	0.577																																						.											0																																										SO:0001583	missense	100132406			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.400T>G	1.37:g.145302775T>G	ENSP00000358345:p.Tyr134Asp		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	0	-2.664813	0.00107	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.46063	0.88;4.33	0.712	-0.91	0.10511	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.02654	T	1	.	.	.	.	.	134	A8MQ30	.	D	330;134;134;405	ENSP00000358344:Y134D;ENSP00000345684:Y405D	ENSP00000345684:Y405D	Y	+	1	0	NBPF10	144014132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	-1.158000	0.02811	-1.371000	0.01190	TAT		0.577	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145302775	T	G	145302775	3	3	54	1	0	0	0	0	1	0	0	0	10193	1638	57	5	1243	5	NBPF10	1	145302775	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	28144027	145302775	103947846	10	5322											
APH1A	51107	broad.mit.edu;mdanderson.org	37	chr1	150240152	150240152	+	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	gatggagatgggtgatcttcCgtcctcactcagcgatgcta	8	11	12	10	2	3	2	2	1	1	1	5	5	5	2	2	2	2	1	2	2	1	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:150240152C>T	ENST00000369109.3	-	3	510	c.322G>A	c.(322-324)Gga>Aga	p.G108R	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000360244.4_Missense_Mutation_p.G108R	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	108					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)			GGTGATCTTCCGTCCTCACTC	0.592																																						.											0													43	48	46					1																	150240152		1978	4159	6137	SO:0001583	missense	51107			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.322G>A	1.37:g.150240152C>T	ENSP00000358105:p.Gly108Arg		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109966	0.56398	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.42513	0.97;0.97;0.97	4.98	4.98	0.66077	.	0.066696	0.64402	D	0.000012	T	0.43634	0.1256	L	0.59436	1.845	0.80722	D	1	D;P;P;D	0.71674	0.998;0.873;0.896;0.994	P;B;P;P	0.59056	0.851;0.386;0.52;0.826	T	0.15636	-1.0430	10	0.18276	T	0.48	-2.8055	15.7897	0.78345	0.0:1.0:0.0:0.0	.	51;108;108;108	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	R	108;108;51	ENSP00000358105:G108R;ENSP00000353380:G108R;ENSP00000236017:G51R	ENSP00000236017:G51R	G	-	1	0	APH1A	148506776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.583000	0.87209	0.491000	0.48974	GGA		0.592	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		T	150240152	C	T	150240152	3	4	54	1	0	0	0	0	1	0	0	0	771	661	23	1	506	1	APH1A	1	150240152	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	4937377	150240152	99010469	11	5323											
HRNR	388697	mdanderson.org	37	chr1	152192163	152192163	+	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	agagccctgttggccatagcGagaagactgacttgagccag	11	7	13	10	1	0	5	0	2	0	3	0	6	0	5	3	1	3	1	3	1	2	3	rs61814943		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:152192163G>T	ENST00000368801.2	-	3	2017	c.1942C>A	c.(1942-1944)Cgc>Agc	p.R648S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	648					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)			TGGCCATAGCGAGAAGACTGA	0.577																																						.											0													210	213	212					1																	152192163		2203	4300	6503	SO:0001583	missense	388697			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.1942C>A	1.37:g.152192163G>T	ENSP00000357791:p.Arg648Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.020	0.759338	0.15846	.	.	ENSG00000197915	ENST00000368801	T	0.03717	3.83	3.86	-7.73	0.01245	.	.	.	.	.	T	0.00271	0.0008	N	0.01352	-0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48163	-0.9059	9	0.02654	T	1	.	7.1181	0.25429	0.0:0.4064:0.3856:0.2081	rs61814943	648	Q86YZ3	HORN_HUMAN	S	648	ENSP00000357791:R648S	ENSP00000357791:R648S	R	-	1	0	HRNR	150458787	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.911000	0.00336	-1.297000	0.02351	-0.866000	0.03004	CGC		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152192163	G	T	152192163	3	4	54	1	0	0	0	0	1	0	0	0	7359	1058	37	5	6614	5	HRNR	1	152192163	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1952011	152192163	97058458	12	5324											
DNM3	26052	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr1	172037991	172037991	+	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	cccagactctgcgaggaaacGgaaaggattgttgctaacca	13	7	11	10	2	1	1	0	0	1	1	1	5	1	4	2	3	4	2	2	3	3	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:172037991G>A	ENST00000355305.5	+	11	1525	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	DNM3_ENST00000520906.1_Silent_p.T456T|DNM3_ENST00000367731.1_Silent_p.T456T|DNM3_ENST00000358155.4_Silent_p.T456T|DNM3_ENST00000367733.2_Silent_p.T456T			Q9UQ16	DYN3_HUMAN	dynamin 3	456					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						GCGAGGAAACGGAAAGGATTG	0.468																																						.											0													47	43	44					1																	172037991		1883	4101	5984	SO:0001819	synonymous_variant	26052			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.1368G>A	1.37:g.172037991G>A			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37																																																																																					0.468	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		A	172037991	G	A	172037991	2	1	54	1	0	0	0	0	0	0	0	1	4673	1103	39	1		1	DNM3	1	172037991	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	19845828	172037991	77212630	13	5325											
C1orf25	81627	broad.mit.edu	37	chr1	185119607	185119608	+	Frame_Shift_Ins	INS	-	-	A																															ttttccttagggcacaatggINSacaagcctgtctgttgcctt																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:185119607_185119608insA	ENST00000367506.5	-	3	631_632	c.363_364insT	c.(361-366)tgtccafs	p.P122fs	TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	122					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGCACAATGGACAAGCCTGTC	0.376																																						.											0																																										SO:0001589	frameshift_variant	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.364dupT	1.37:g.185119608_185119608dupA	ENSP00000356476:p.Pro122fs		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Frame_Shift_Ins	INS	ENST00000367506.5	37	CCDS1366.1																																																																																				0.376	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		A	185119608	-	A	185119607	7	5	54	1	0	1	1	0	0	0	0	0	2034	1174	41	0	1889	0	C1orf25	1	185119607	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	13081616	185119607	64131014	14	5326											
ABCG8	64241	broad.mit.edu	37	chr2	44102406	44102407	+	Frame_Shift_Ins	INS	-	-	G																															cacttcctgctggtgtggctINSggtggtcttctgttgcagga																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:44102406_44102407insG	ENST00000272286.2	+	11	1700_1701	c.1610_1611insG	c.(1609-1614)ctggtgfs	p.V538fs		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	538	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGTGTGGCTGGTGGTCTTCT	0.609																																						.											0																																										SO:0001589	frameshift_variant	64241			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.1612dupG	2.37:g.44102408_44102408dupG	ENSP00000272286:p.Val538fs		Q53QN8	Frame_Shift_Ins	INS	ENST00000272286.2	37	CCDS1815.1																																																																																				0.609	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		G	44102407	-	G	44102406	7	5	54	1	0	1	1	0	0	0	0	0	72	1580	55	0	1652	0	ABCG8	2	44102406	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10		44102406	199096967	15	5327											
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	44139675	44139675	+	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	acaatgttttgctcttttgcAttcaggaaaatatcatatgc	12	16	6	7	0	3	0	2	0	1	0	3	1	3	1	0	1	3	3	0	1	5	7			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:44139675A>T	ENST00000260665.7	-	30	3228	c.3171T>A	c.(3169-3171)aaT>aaA	p.N1057K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1057					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCTTTTGCATTCAGGAAAA	0.323																																						.											0													92	87	89					2																	44139675		2201	4297	6498	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3171T>A	2.37:g.44139675A>T	ENSP00000260665:p.Asn1057Lys		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.172635	0.01646	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.51325	0.71	5.78	3.09	0.35607	.	0.569792	0.20057	N	0.100168	T	0.11153	0.0272	N	0.00197	-1.87	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04495	-1.0947	10	0.15952	T	0.53	-6.7877	5.055	0.14527	0.2744:0.1053:0.0:0.6202	.	957;1057	F5H4J6;P42704	.;LPPRC_HUMAN	K	957;1057	ENSP00000260665:N1057K	ENSP00000260665:N1057K	N	-	3	2	LRPPRC	43993179	0.984000	0.35163	0.998000	0.56505	0.366000	0.29705	0.007000	0.13174	1.012000	0.39366	-0.275000	0.10095	AAT		0.323	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		T	44139675	A	T	44139675	3	4	54	1	0	0	0	0	1	0	0	0	8965	214	8	5	1049	5	LRPPRC	2	44139675	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	37269	44139675	199059698	16	5328											
ANKRD36B	0	broad.mit.edu	37	chr2	98129746	98129746	+	IGR	DEL	G	G	-																															ctatcctatattgctcttctGttattcttaacttttcccta																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:98129746delG								AC159540.1 (38697 upstream) : ANKRD36B (34281 downstream)																							TTGCTCTTCTGTTATTCTTAA	0.333																																						.											0													62	71	68					2																	98129746		1811	4072	5883	SO:0001628	intergenic_variant	57730																															2.37:g.98129746delG				Frame_Shift_Del	DEL		37																																																																																				0	0.333									-	98129746	G	-	98129746	6	5	54	0	1	1	0	1	0	0	0	0	666	1377	48	0		0	ANKRD36B	2	98129746	IGR	DEL	G	TCGA-KO-8404-01A-11D-2310-10	53990071	98129746	145069627	17	5329											
IL1RL1	9173	broad.mit.edu	37	chr2	102959759	102959760	+	Frame_Shift_Ins	INS	-	-	G																															gggctggcttgtctagacatINSggttttaagaatagctgacg																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:102959759_102959760insG	ENST00000233954.1	+	8	1125_1126	c.854_855insG	c.(853-858)atggttfs	p.V286fs	IL1RL1_ENST00000311734.2_Frame_Shift_Ins_p.V286fs|IL1RL1_ENST00000409584.1_Frame_Shift_Ins_p.V272fs|IL1RL1_ENST00000404917.2_Frame_Shift_Ins_p.V169fs	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	286	Ig-like C2-type 3.				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						TGTCTAGACATGGTTTTAAGAA	0.455																																						.											0																																										SO:0001589	frameshift_variant	9173			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.856dupG	2.37:g.102959761_102959761dupG	ENSP00000233954:p.Val286fs		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Frame_Shift_Ins	INS	ENST00000233954.1	37	CCDS2057.1																																																																																				0.455	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		G	102959760	-	G	102959759	7	5	54	1	0	1	1	0	0	0	0	0	7663	1464	51	0	880	0	IL1RL1	2	102959759	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	4830013	102959759	140239614	18	5330											
RGPD4	285190	broad.mit.edu	37	chr2	108487353	108487354	+	Frame_Shift_Ins	INS	-	-	A																															ccgtggtgtgatttttggccINSaaacaagtagcacttttaca																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:108487353_108487354insA	ENST00000408999.3	+	20	2970_2971	c.2893_2894insA	c.(2893-2895)caafs	p.Q965fs	RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.Q965fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	965					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATTTTTGGCCAAACAAGTAGC	0.401																																						.											0																																										SO:0001589	frameshift_variant	285190			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.2896dupA	2.37:g.108487356_108487356dupA	ENSP00000386810:p.Gln965fs		B9A029	Frame_Shift_Ins	INS	ENST00000408999.3	37	CCDS46381.1																																																																																				0.401	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108487354	-	A	108487353	7	5	54	1	0	1	1	0	0	0	0	0	13288	595	21	0	2971	0	RGPD4	2	108487353	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	5527594	108487353	134712020	19	5331											
AOX1	316	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr2	201462175	201462175	+	Missense_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	gttctctgtatggtgctgccGtcaccacagtagaaggcata	9	11	11	10	1	2	1	1	0	1	1	3	1	2	1	2	2	2	5	2	2	4	4	rs200659056		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:201462175G>A	ENST00000374700.2	+	4	497	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	86	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				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)	TGGTGCTGCCGTCACCACAGT	0.458																																						.											0													142	120	128					2																	201462175		2203	4300	6503	SO:0001583	missense	316			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.256G>A	2.37:g.201462175G>A	ENSP00000363832:p.Val86Ile		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512980	0.44660	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.56941	1.71;0.43	5.29	3.5	0.40072	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.186311	0.46145	N	0.000308	T	0.39517	0.1081	L	0.33293	1	0.58432	D	0.999999	P	0.36990	0.577	B	0.34242	0.178	T	0.26608	-1.0098	10	0.49607	T	0.09	-43.0883	11.3803	0.49752	0.1469:0.0:0.8531:0.0	.	86	Q06278	ADO_HUMAN	I	86;61	ENSP00000363832:V86I;ENSP00000392485:V61I	ENSP00000363832:V86I	V	+	1	0	AOX1	201170420	1.000000	0.71417	0.724000	0.30704	0.801000	0.45260	3.200000	0.51051	0.801000	0.34066	0.655000	0.94253	GTC		0.458	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		A	201462175	G	A	201462175	3	1	54	1	0	0	0	0	1	0	0	0	729	1145	40	1	270	1	AOX1	2	201462175	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	92974822	201462175	41737198	20	5332											
STRADB	55437	mdanderson.org	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-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	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																																						.											0													134	136	135					2																	202344886		2203	4300	6503	SO:0001819	synonymous_variant	55437			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			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	54	1	0	0	0	0	0	0	0	1	15324	576	20	4		4	STRADB	2	202344886	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	882711	202344886	40854487	21	5333											
PRKAG3	53632	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	219695480	219695480	+	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	tggcctcaccttccccctgaCctggtggctccccttcctcc	2	11	7	21	0	1	1	1	1	0	0	5	1	5	1	9	3	0	1	9	3	0	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:219695480C>A	ENST00000529249.1	-	3	533	c.218G>T	c.(217-219)gGt>gTt	p.G73V	PRKAG3_ENST00000392098.3_Missense_Mutation_p.G73V|PRKAG3_ENST00000439262.2_Missense_Mutation_p.G48V|PRKAG3_ENST00000545803.1_Splice_Site			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	73					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TTCCCCCTGACCTGGTGGCTC	0.617																																						.											0													137	114	122					2																	219695480		2203	4300	6503	SO:0001583	missense	53632			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.218G>T	2.37:g.219695480C>A	ENSP00000436068:p.Gly73Val		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.727|1.727	-0.495088|-0.495088	0.04322|0.04322	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000430489|ENST00000439262;ENST00000529249;ENST00000392098	.|D;D;T	.|0.82167	.|-1.57;-1.58;0.22	4.78|4.78	-0.676|-0.676	0.11361|0.11361	.|.	.|0.335926	.|0.25222	.|N	.|0.032231	.|T	.|0.72630	.|0.3484	L|L	0.32530|0.32530	0.975|0.975	0.19300|0.19300	N|N	0.99998|0.99998	.|P;P	.|0.51351	.|0.944;0.908	.|P;B	.|0.49140	.|0.601;0.397	.|T	.|0.65001	.|-0.6274	.|10	.|0.72032	.|D	.|0.01	.|-4.8259	0.6602|0.6602	0.00841|0.00841	0.1784:0.358:0.1546:0.3091|0.1784:0.358:0.1546:0.3091	.|.	.|48;73	.|Q9UGI9-2;Q9UGI9	.|.;AAKG3_HUMAN	.|V	-1|48;73;73	.|ENSP00000397133:G48V;ENSP00000436068:G73V;ENSP00000375947:G73V	.|ENSP00000233944:G73V	.|G	-|-	.|2	.|0	PRKAG3|PRKAG3	219403724|219403724	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.165000|0.165000	0.22458|0.22458	-0.625000|-0.625000	0.05534|0.05534	0.116000|0.116000	0.18110|0.18110	0.655000|0.655000	0.94253|0.94253	.|GGT		0.617	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			A	219695480	C	A	219695480	3	1	54	1	0	0	0	0	1	0	0	0	12502	507	18	5	1295	5	PRKAG3	2	219695480	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	17350594	219695480	23503893	22	5334											
ABHD14A	25864	broad.mit.edu	37	chr3	52014930	52014930	+	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	ggcagctccgccacctgcccAaccactctgtggtgaagcta	8	7	10	16	1	1	1	0	1	1	0	2	1	2	1	5	2	4	3	5	2	3	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:52014930A>C	ENST00000273596.3	+	5	780	c.712A>C	c.(712-714)Aac>Cac	p.N238H	ACY1_ENST00000458031.2_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000404366.2_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476351.1_5'Flank|ABHD14A_ENST00000491470.1_Silent_p.P120P|ACY1_ENST00000476854.1_5'Flank|ACY1_ENST00000494103.1_5'Flank	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	238						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCACCTGCCCAACCACTCTGT	0.592																																						.											0													113	91	98					3																	52014930		2203	4300	6503	SO:0001583	missense	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.712A>C	3.37:g.52014930A>C	ENSP00000273596:p.Asn238His		Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893898	0.72639	.	.	ENSG00000248487	ENST00000273596;ENST00000360889;ENST00000452452	T	0.23348	1.91	5.41	5.41	0.78517	.	0.057047	0.64402	D	0.000003	T	0.29620	0.0739	L	0.58354	1.805	0.80722	D	1	P	0.37708	0.606	B	0.38880	0.284	T	0.07635	-1.0762	10	0.59425	D	0.04	-24.6514	13.6867	0.62520	1.0:0.0:0.0:0.0	.	238	Q9BUJ0	ABHEA_HUMAN	H	238;196;172	ENSP00000273596:N238H	ENSP00000273596:N238H	N	+	1	0	ABHD14A	51989970	0.354000	0.24912	1.000000	0.80357	0.965000	0.64279	0.818000	0.27295	2.056000	0.61249	0.379000	0.24179	AAC		0.592	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		C	52014930	A	C	52014930	3	2	54	1	0	0	0	0	1	0	0	0	79	130	5	5	730	5	ABHD14A	3	52014930	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10		52014930	146007500	23	5335											
SLC15A2	6565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	121659851	121659851	+	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	gagaccaagaagacaaaactCtgatgactccctagattctg	15	8	8	10	0	2	6	0	2	2	4	3	7	3	6	2	0	1	0	2	0	5	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:121659851C>A	ENST00000489711.1	+	22	2575	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L	SLC15A2_ENST00000295605.2_Silent_p.L698L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	729					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGACAAAACTCTGATGACTCC	0.443																																						.											0													80	77	78					3																	121659851		2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.2187C>A	3.37:g.121659851C>A			A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	CCDS3007.1																																																																																				0.443	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		A	121659851	C	A	121659851	2	1	54	1	0	0	0	0	0	0	0	1	14399	900	32	5		5	SLC15A2	3	121659851	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	69644921	121659851	76362579	24	5336											
FAM162A	26355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	122123174	122123174	+	Missense_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	gatcctcatatggtcaggtcGcttcaaaaaggaagatgaaa	15	9	10	7	1	3	2	3	1	0	1	5	4	4	3	1	3	0	1	1	3	5	2	rs149572114		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:122123174G>A	ENST00000477892.1	+	3	311	c.227G>A	c.(226-228)cGc>cAc	p.R76H	FAM162A_ENST00000469967.1_Missense_Mutation_p.R76H|FAM162A_ENST00000232125.5_Missense_Mutation_p.R66H	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	76	Required for proapoptotic activity.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TGGTCAGGTCGCTTCAAAAAG	0.398													G|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0					.											0													89	86	87					3																	122123174		1900	4119	6019	SO:0001583	missense	26355			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.227G>A	3.37:g.122123174G>A	ENSP00000419088:p.Arg76His		Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	CCDS43139.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.95	2.985201	0.53934	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967	T;T;T	0.39056	1.1;1.1;1.1	5.65	3.86	0.44501	.	0.347429	0.31601	N	0.007366	T	0.41305	0.1153	M	0.79805	2.47	0.29219	N	0.874058	P;P	0.49635	0.926;0.908	B;B	0.39935	0.314;0.146	T	0.51679	-0.8675	10	0.54805	T	0.06	.	7.2289	0.26030	0.0839:0.0:0.7487:0.1674	.	76;76	E9PH05;Q96A26	.;F162A_HUMAN	H	66;76;76	ENSP00000232125:R66H;ENSP00000419088:R76H;ENSP00000419491:R76H	ENSP00000232125:R66H	R	+	2	0	FAM162A	123605864	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.337000	0.59310	0.937000	0.37394	-0.140000	0.14226	CGC		0.398	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		A	122123174	G	A	122123174	3	1	54	1	0	0	0	0	1	0	0	0	5474	1087	38	1	237	1	FAM162A	3	122123174	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	463323	122123174	75899256	25	5337											
HEG1	57493	mdanderson.org	37	chr3	124732419	124732419	+	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	ggaggccctgaagaagaagaAgaggaggaggaggaagagga	17	1	20	3	0	0	6	0	1	0	5	0	12	0	12	1	7	0	0	1	7	5	0	rs202026679|rs540539937|rs376430192		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:124732419A>G	ENST00000311127.4	-	6	2071	c.2004T>C	c.(2002-2004)tcT>tcC	p.S668S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	668	Ser-rich.				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						aagaagaagaagaggaggagg	0.488																																						.											0													51	56	55					3																	124732419		2137	4243	6380	SO:0001819	synonymous_variant	57493			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.2004T>C	3.37:g.124732419A>G			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																				0.488	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		G	124732419	A	G	124732419	2	3	54	1	0	0	0	0	0	0	0	1	7044	59	3	2		2	HEG1	3	124732419	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	2609245	124732419	73290011	26	5338											
KLF15	28999	broad.mit.edu	37	chr3	126070866	126070867	+	Frame_Shift_Ins	INS	-	-	G																															ggcccatgaggagaccggcaINSgggccaggccccaggggtcc																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:126070866_126070867insG	ENST00000296233.3	-	2	1129_1130	c.899_900insC	c.(898-900)cctfs	p.P300fs	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	300					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAGACCGGCAGGGCCAGGCCC	0.584																																						.											0																																										SO:0001589	frameshift_variant	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.900dupC	3.37:g.126070869_126070869dupG	ENSP00000296233:p.Pro300fs			Frame_Shift_Ins	INS	ENST00000296233.3	37	CCDS3036.1																																																																																				0.584	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		G	126070867	-	G	126070866	7	5	54	1	0	1	1	0	0	0	0	0	8343	175	7	0	358	0	KLF15	3	126070866	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	1338447	126070866	71951564	27	5339											
COL6A5	256076	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	130098678	130098678	+	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	tgatgctgcgctgaaccttcGactggaggatgtaaacgtgt	9	11	13	8	3	0	2	0	2	0	0	1	5	0	4	1	2	4	3	1	2	3	2	rs532783006	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:130098678G>C	ENST00000432398.2	+	4	1579	c.1085G>C	c.(1084-1086)cGa>cCa	p.R362P	COL6A5_ENST00000265379.6_Missense_Mutation_p.R362P	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	362	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular 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						CTGAACCTTCGACTGGAGGAT	0.483																																						.											0													140	115	122					3																	130098678		692	1591	2283	SO:0001583	missense	256076			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.1085G>C	3.37:g.130098678G>C	ENSP00000390895:p.Arg362Pro		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	7.854	0.724578	0.15439	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.81247	-1.47;-1.47	5.34	3.33	0.38152	.	.	.	.	.	D	0.91168	0.7218	M	0.90650	3.135	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83855	0.0265	9	0.72032	D	0.01	.	14.8051	0.69948	0.0:0.0:0.7277:0.2723	.	362	A8TX70-2	.	P	362	ENSP00000390895:R362P;ENSP00000265379:R362P	ENSP00000265379:R362P	R	+	2	0	COL6A5	131581368	0.988000	0.35896	0.063000	0.19743	0.048000	0.14542	4.397000	0.59690	1.242000	0.43836	0.455000	0.32223	CGA		0.483	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		C	130098678	G	C	130098678	3	2	54	1	0	0	0	0	1	0	0	0	3702	1058	37	5	1095	5	COL6A5	3	130098678	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	4027812	130098678	67923752	28	5340											
WWTR1	25937	broad.mit.edu;bcgsc.ca	37	chr3	149245708	149245708	+	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	gttgacagcagcctgaactgGggcaagagtctcagcttcca	10	8	12	11	0	1	3	1	2	1	1	3	3	2	3	2	2	4	4	2	2	2	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:149245708G>A	ENST00000465804.1	-	6	1076	c.820C>T	c.(820-822)Cca>Tca	p.P274S	WWTR1_ENST00000467467.1_Missense_Mutation_p.P274S|WWTR1_ENST00000360632.3_Missense_Mutation_p.P274S|RNU6-1098P_ENST00000516772.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	274					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)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCTGAACTGGGGCAAGAGTC	0.498			T	CAMTA1	epitheliod hemangioendothelioma																																	.		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													128	130	130					3																	149245708		2203	4300	6503	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.820C>T	3.37:g.149245708G>A	ENSP00000419465:p.Pro274Ser		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095889	0.20552	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.39997	1.05;1.05;1.05	5.09	-5.53	0.02552	.	1.354690	0.04316	N	0.349895	T	0.18045	0.0433	N	0.10874	0.06	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	10	0.14252	T	0.57	-0.4524	3.9669	0.09436	0.1546:0.2195:0.4838:0.1421	.	274	Q9GZV5	WWTR1_HUMAN	S	274;274;274;132	ENSP00000419465:P274S;ENSP00000353847:P274S;ENSP00000419234:P274S	ENSP00000353847:P274S	P	-	1	0	WWTR1	150728398	0.729000	0.28090	0.187000	0.23214	0.947000	0.59692	-0.308000	0.08156	-0.491000	0.06697	0.644000	0.83932	CCA		0.498	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		A	149245708	G	A	149245708	3	1	54	1	0	0	0	0	1	0	0	0	17414	1232	43	3	394	3	WWTR1	3	149245708	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	19147030	149245708	48776722	29	5341											
HTR3E	285242	broad.mit.edu;mdanderson.org	37	chr3	183824286	183824287	+	Missense_Mutation	DNP	GC	GC	TG																															gaggtatcagcagggcagatGccgggccctgcggaggcaga																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:183824286_183824287GC>TG	ENST00000415389.2	+	9	1642_1643	c.1176_1177GC>TG	c.(1174-1179)atGCcg>atTGcg	p.392_393MP>IA	HTR3E_ENST00000425359.2_Missense_Mutation_p.377_378MP>IA|HTR3E_ENST00000440596.2_Missense_Mutation_p.418_419MP>IA|HTR3E_ENST00000436361.2_Missense_Mutation_p.392_393MP>IA|HTR3E_ENST00000335304.2_Missense_Mutation_p.407_408MP>IA|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	392					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGGGCAGATGCCGGGCCCTGC	0.609																																					Melanoma(7;227 727 6634 44770)	.											0																																										SO:0001583	missense	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	Exception_encountered	3.37:g.183824286_183824287delinsTG	ENSP00000401444:p.M392_P393delinsIA		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	DNP	ENST00000415389.2	37	CCDS58868.1																																																																																				0.609	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		TG	183824287	GC	TG	183824286	3	4	54	1	0	0	0	0	1	0	0	0	7448	1319	46	5	1251	5	HTR3E	3	183824286	Missense_Mutation	DNP	GC	TCGA-KO-8404-01A-11D-2310-10	34578578	183824286	14198144	30	5342											
TMEM175	84286	bcgsc.ca	37	chr4	951677	951677	+	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	cggcagcctcgtggccgcccTgagtgcgaccgggccgcgct	3	5	16	17	7	0	1	0	1	0	0	1	2	0	1	5	3	2	2	5	3	0	0			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:951677T>A	ENST00000264771.4	+	11	1093	c.908T>A	c.(907-909)cTg>cAg	p.L303Q	TMEM175_ENST00000515740.1_Missense_Mutation_p.L187Q|TMEM175_ENST00000508204.1_Missense_Mutation_p.L221Q	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	303						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)			GTGGCCGCCCTGAGTGCGACC	0.622																																						.											0													49	53	52					4																	951677		2203	4300	6503	SO:0001583	missense	84286			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.908T>A	4.37:g.951677T>A	ENSP00000264771:p.Leu303Gln		D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587414	0.46110	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.82	4.82	0.62117	.	0.087962	0.47455	D	0.000234	D	0.82724	0.5099	H	0.95574	3.69	0.49483	D	0.999792	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85480	0.1178	10	0.87932	D	0	-18.6448	7.9391	0.29948	0.1832:0.0:0.0:0.8168	.	221;303	D3DVN5;Q9BSA9	.;TM175_HUMAN	Q	303;187;221;221	ENSP00000264771:L303Q;ENSP00000427039:L187Q;ENSP00000423669:L221Q;ENSP00000424208:L221Q	ENSP00000264771:L303Q	L	+	2	0	TMEM175	941677	1.000000	0.71417	0.942000	0.38095	0.010000	0.07245	5.515000	0.67049	1.804000	0.52760	0.402000	0.26972	CTG		0.622	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		A	951677	T	A	951677	3	1	54	1	0	0	0	0	1	0	0	0	16088	1580	55	5	946	5	TMEM175	4	951677	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10		951677	190202599	31	5343											
OTOP1	133060	mdanderson.org	37	chr4	4190576	4190577	+	Missense_Mutation	DNP	CG	CG	GC																															gggaggcagctgcgtgcattCgatagaaaatagaaaaaggc																								rs200368405|rs199742451		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:4190576_4190577CG>GC	ENST00000296358.4	-	6	1816_1817	c.1792_1793CG>GC	c.(1792-1794)CGa>GCa	p.R598A		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	598					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)		TGCGTGCATTCGATAGAAAATA	0.46																																						.											0																																										SO:0001583	missense	133060			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.1792_1793delinsGC	4.37:g.4190576_4190577delinsGC	ENSP00000296358:p.Arg598Ala		A1L476	Missense_Mutation	DNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.46	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		GC	4190577	CG	GC	4190576	3	3	54	1	0	0	0	0	1	0	0	0	11305	884	31	5	49	5	OTOP1	4	4190576	Missense_Mutation	DNP	CG	TCGA-KO-8404-01A-11D-2310-10	3238899	4190576	186963700	32	5344											
NCAPG	64151	broad.mit.edu	37	chr4	17844972	17844973	+	Frame_Shift_Ins	INS	-	-	A																															gaaatgaagatgagactaccINSaagacgagccaaaaccgcag																								rs75077775		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:17844972_17844973insA	ENST00000251496.2	+	21	3148_3149	c.2972_2973insA	c.(2971-2976)ccaagafs	p.R992fs	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	992					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATGAGACTACCAAGACGAGCCA	0.366																																						.											0																																										SO:0001589	frameshift_variant	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2974dupA	4.37:g.17844974_17844974dupA	ENSP00000251496:p.Arg992fs		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Ins	INS	ENST00000251496.2	37	CCDS3424.1																																																																																				0.366	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		A	17844973	-	A	17844972	7	5	54	1	0	1	1	0	0	0	0	0	10207	594	21	0	3054	0	NCAPG	4	17844972	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	13654396	17844972	173309304	33	5345											
UGT2A3	79799	broad.mit.edu;mdanderson.org	37	chr4	69795705	69795705	+	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	gctgatcgcaggtgcttggcTcctttgtggcgcatgacaaa	7	11	13	10	2	0	2	0	2	0	0	2	2	1	2	1	3	1	5	1	3	1	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:69795705T>G	ENST00000251566.4	-	6	1440	c.1410A>C	c.(1408-1410)ggA>ggC	p.G470G	UGT2A3_ENST00000420231.2_Silent_p.G181G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	470					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						GGTGCTTGGCTCCTTTGTGGC	0.488																																						.											0													91	91	91					4																	69795705		2203	4300	6503	SO:0001819	synonymous_variant	79799				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.1410A>C	4.37:g.69795705T>G			Q9H6S4	Silent	SNP	ENST00000251566.4	37	CCDS3525.1																																																																																				0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		G	69795705	T	G	69795705	2	3	54	1	0	0	0	0	0	0	0	1	16952	1538	54	5		5	UGT2A3	4	69795705	Silent	SNP	T	TCGA-KO-8404-01A-11D-2310-10	51950733	69795705	121358571	34	5346											
FAM190A	401145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	91229575	91229575	+	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	tgtccacagttcctctccttCcagcactaactcaagctcag	9	11	5	16	0	3	0	2	0	1	0	7	0	6	0	4	0	3	3	4	0	2	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:91229575C>T	ENST00000509176.1	+	2	428	c.140C>T	c.(139-141)tCc>tTc	p.S47F	CCSER1_ENST00000333691.8_Missense_Mutation_p.S47F|CCSER1_ENST00000432775.2_Missense_Mutation_p.S47F	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	47	Ser-rich.																TCCTCTCCTTCCAGCACTAAC	0.453																																						.											0													120	112	115					4																	91229575		1987	4176	6163	SO:0001583	missense	401145				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.140C>T	4.37:g.91229575C>T	ENSP00000425040:p.Ser47Phe		Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344682	0.82022	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.62364	0.48;0.03;0.48	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.48642	1.525	0.48762	D	0.999704	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77013	-0.2745	10	0.87932	D	0	-12.7559	19.5936	0.95526	0.0:1.0:0.0:0.0	.	47;47;47	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	F	47	ENSP00000425040:S47F;ENSP00000389283:S47F;ENSP00000329482:S47F	ENSP00000329482:S47F	S	+	2	0	FAM190A	91448598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.221000	0.78016	2.793000	0.96121	0.655000	0.94253	TCC		0.453	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		T	91229575	C	T	91229575	3	4	54	1	0	0	0	0	1	0	0	0	5521	855	30	3	142	3	FAM190A	4	91229575	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	21433870	91229575	99924701	35	5347											
TTC29	83894	mdanderson.org;bcgsc.ca	37	chr4	147795877	147795877	+	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	tttccacccaccttctttggCtatttcagaagcttttatta	8	18	4	11	0	2	1	1	0	1	1	3	1	3	1	3	1	1	2	3	1	4	8			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:147795877C>T	ENST00000325106.4	-	7	1016	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	TTC29_ENST00000398886.4_Missense_Mutation_p.A290T|TTC29_ENST00000513335.1_Missense_Mutation_p.A290T	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	264										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCTTCTTTGGCTATTTCAGAA	0.378																																						.											0													87	76	79					4																	147795877		1811	4081	5892	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.790G>A	4.37:g.147795877C>T	ENSP00000316740:p.Ala264Thr		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998966	0.74818	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.91	5.07	0.68467	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88362	0.6416	M	0.84326	2.69	0.44373	D	0.997274	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.88848	0.3317	10	0.45353	T	0.12	-6.6357	15.049	0.71850	0.0:0.9324:0.0:0.0676	.	264;290;264	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	T	290;290;264;264;264	ENSP00000423505:A290T;ENSP00000381861:A290T;ENSP00000316740:A264T;ENSP00000425778:A264T	ENSP00000316740:A264T	A	-	1	0	TTC29	148015327	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.085000	0.57657	1.509000	0.48786	-0.136000	0.14681	GCC		0.378	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		T	147795877	C	T	147795877	3	4	54	1	0	0	0	0	1	0	0	0	16693	797	28	4	665	4	TTC29	4	147795877	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	56566302	147795877	43358399	36	5348											
PAPD7	11044	mdanderson.org	37	chr5	6753008	6753008	+	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	caggtttactatacctccacCgaccctaggggttgctcctg	7	11	9	14	1	0	0	0	0	0	0	2	1	2	0	5	3	3	3	5	3	4	6	rs374089909		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:6753008C>T	ENST00000230859.6	+	12	1421	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	661	PAP-associated.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATACCTCCACCGACCCTAGGG	0.527																																					NSCLC(7;212 333 5667 23379 46547)	.											0													99	93	95					5																	6753008		2203	4300	6503	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1292C>T	5.37:g.6753008C>T	ENSP00000230859:p.Pro431Leu		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733383	0.48939	.	.	ENSG00000112941	ENST00000230859	T	0.29142	1.58	5.35	5.35	0.76521	.	0.402161	0.28589	N	0.014820	T	0.26122	0.0637	L	0.47716	1.5	0.41628	D	0.989006	B;B	0.22146	0.065;0.065	B;B	0.06405	0.002;0.002	T	0.04400	-1.0954	10	0.27785	T	0.31	-12.8162	11.6914	0.51519	0.1764:0.8236:0.0:0.0	.	431;431	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	L	431	ENSP00000230859:P431L	ENSP00000230859:P431L	P	+	2	0	PAPD7	6806008	0.164000	0.22935	0.594000	0.28785	0.998000	0.95712	1.669000	0.37492	2.510000	0.84645	0.655000	0.94253	CCG		0.527	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		T	6753008	C	T	6753008	3	4	54	1	0	0	0	0	1	0	0	0	11426	652	23	1	1334	1	PAPD7	5	6753008	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		6753008	174162252	37	5349											
OCLN	100506658	broad.mit.edu	37	chr5	68840857	68840857	+	Frame_Shift_Del	DEL	A	A	-																															cctgcaaagggaagagcaggAaggtcaaagagaacagagca																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:68840857delA	ENST00000355237.2	+	6	1600	c.1164delA	c.(1162-1164)ggafs	p.G388fs	OCLN_ENST00000538151.1_Frame_Shift_Del_p.G137fs|OCLN_ENST00000396442.2_Frame_Shift_Del_p.G388fs|OCLN_ENST00000542132.1_Frame_Shift_Del_p.G66fs|OCLN_ENST00000380766.2_Frame_Shift_Del_p.G334fs|OCLN_ENST00000514370.1_3'UTR	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	388					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GAAGAGCAGGAAGGTCAAAGA	0.512																																						.											0													56	51	53					5																	68840857		1747	3481	5228	SO:0001589	frameshift_variant	100506658			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.1164delA	5.37:g.68840857delA	ENSP00000347379:p.Gly388fs		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Frame_Shift_Del	DEL	ENST00000355237.2	37	CCDS4006.1																																																																																				0.512	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		-	68840857	A	-	68840857	7	5	54	1	0	1	0	1	0	0	0	0	10820	233	9	0	1182	0	OCLN	5	68840857	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	62087849	68840857	112074403	38	5350											
CAMK4	814	broad.mit.edu	37	chr5	110560256	110560257	+	Frame_Shift_Ins	INS	-	-	G																															ccagtgcggccccggggaccINSgcgagcctcgtcccggatta																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:110560256_110560257insG	ENST00000282356.4	+	1	473_474	c.75_76insG	c.(76-78)gcgfs	p.A26fs	CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.A26fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	26					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)		CCCCGGGGACCGCGAGCCTCGT	0.673																																						.											0																																										SO:0001589	frameshift_variant	814			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.76dupG	5.37:g.110560257_110560257dupG	ENSP00000282356:p.Ala26fs		D3DSZ7	Frame_Shift_Ins	INS	ENST00000282356.4	37	CCDS4103.1																																																																																				0.673	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		G	110560257	-	G	110560256	7	5	54	1	0	1	1	0	0	0	0	0	2605	639	23	0	77	0	CAMK4	5	110560256	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	41719399	110560256	70355004	39	5351											
SEMA6A	57556	broad.mit.edu	37	chr5	115782974	115782975	+	Frame_Shift_Ins	INS	-	-	G																															accacgctggggatgtggctINSgggggaggcccgcaggggca																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:115782974_115782975insG	ENST00000343348.6	-	19	3214_3215	c.2427_2428insC	c.(2425-2430)cccagcfs	p.S810fs	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S237fs|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S827fs|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S287fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S810fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S189fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	810	Pro-rich.				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)		GGGATGTGGCTGGGGGAGGCCC	0.639																																						.											0																																										SO:0001589	frameshift_variant	57556			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.2428dupC	5.37:g.115782979_115782979dupG	ENSP00000345512:p.Ser810fs		Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	CCDS47256.1																																																																																				0.639	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		G	115782975	-	G	115782974	7	5	54	1	0	1	1	0	0	0	0	0	14039	1580	55	0	668	0	SEMA6A	5	115782974	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	5222718	115782974	65132286	40	5352											
PCDHB10	56126	mdanderson.org	37	chr5	140573473	140573473	+	Missense_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	acgtcaatgacaacgcccccGccttcacccaaacctcctac	11	6	4	20	3	2	1	2	1	0	0	3	1	3	1	6	0	3	0	6	0	4	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:140573473G>A	ENST00000239446.4	+	1	1532	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCCCGCCTTCACCCA	0.592																																						.											0													54	55	55					5																	140573473		2203	4291	6494	SO:0001583	missense	56126			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.1348G>A	5.37:g.140573473G>A	ENSP00000239446:p.Ala450Thr		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	3.869	-0.028342	0.07589	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.22	-0.906	0.10524	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01320	0.0043	N	0.20845	0.615	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.48514	-0.9029	9	0.18710	T	0.47	.	7.9509	0.30014	0.4614:0.0:0.5386:0.0	.	450	Q9UN67	PCDBA_HUMAN	T	450	ENSP00000239446:A450T	ENSP00000239446:A450T	A	+	1	0	PCDHB10	140553657	0.000000	0.05858	0.767000	0.31495	0.527000	0.34593	-0.266000	0.08631	-0.351000	0.08249	-0.274000	0.10170	GCC		0.592	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140573473	G	A	140573473	3	1	54	1	0	0	0	0	1	0	0	0	11535	1087	38	1	1350	1	PCDHB10	5	140573473	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	24790499	140573473	40341787	41	5353											
GLRA1	2741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	151202298	151202298	+	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	tccagtagaacatgttgaaaAtgaggaaggccatggggaag	15	7	14	5	0	0	3	0	2	0	1	1	5	1	5	2	4	1	2	2	4	6	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:151202298A>C	ENST00000455880.2	-	9	1596	c.1310T>G	c.(1309-1311)aTt>aGt	p.I437S	GLRA1_ENST00000274576.4_Missense_Mutation_p.I429S|GLRA1_ENST00000545569.1_Missense_Mutation_p.I346S			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	437					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)	CATGTTGAAAATGAGGAAGGC	0.512																																						.											0													109	114	112					5																	151202298		2203	4300	6503	SO:0001583	missense	2741				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.1310T>G	5.37:g.151202298A>C	ENSP00000411593:p.Ile437Ser		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920068	0.73098	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.86366	-2.11;-2.11;-2.11	5.03	5.03	0.67393	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	M	0.62088	1.915	0.58432	D	0.999999	D;D;P	0.57899	0.981;0.981;0.75	P;P;P	0.62382	0.901;0.901;0.697	D	0.92146	0.5724	10	0.66056	D	0.02	.	14.7566	0.69569	1.0:0.0:0.0:0.0	.	437;346;429	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	S	429;437;346	ENSP00000274576:I429S;ENSP00000411593:I437S;ENSP00000445913:I346S	ENSP00000274576:I429S	I	-	2	0	GLRA1	151182491	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.068000	0.93961	1.871000	0.54225	0.460000	0.39030	ATT		0.512	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			C	151202298	A	C	151202298	3	2	54	1	0	0	0	0	1	0	0	0	6454	101	4	5	67	5	GLRA1	5	151202298	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	10628825	151202298	29712962	42	5354											
OR2B2	81697	bcgsc.ca	37	chr6	27879484	27879484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacgggtattagaaggaatAgcacactgatgaagaatagt	16	9	11	5	1	1	4	1	2	0	2	1	5	1	5	0	2	1	2	0	2	8	4			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:27879484A>G	ENST00000303324.2	-	1	690	c.614T>C	c.(613-615)cTa>cCa	p.L205P		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TAGAAGGAATAGCACACTGAT	0.428																																						.											0													119	109	112					6																	27879484		2203	4300	6503	SO:0001583	missense	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.614T>C	6.37:g.27879484A>G	ENSP00000304419:p.Leu205Pro		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260357	0.23051	.	.	ENSG00000168131	ENST00000303324	T	0.44881	0.91	4.32	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.255751	0.19627	N	0.109774	T	0.38026	0.1025	L	0.55017	1.72	0.25548	N	0.987118	D	0.69078	0.997	D	0.68483	0.958	T	0.15492	-1.0435	10	0.62326	D	0.03	.	6.1028	0.20057	0.7868:0.0:0.2132:0.0	.	205	Q9GZK3	OR2B2_HUMAN	P	205	ENSP00000304419:L205P	ENSP00000304419:L205P	L	-	2	0	OR2B2	27987463	0.015000	0.18098	0.674000	0.29902	0.056000	0.15407	2.805000	0.47939	0.757000	0.33036	0.460000	0.39030	CTA		0.428	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			G	27879484	A	G	27879484	3	3	54	1	0	0	0	0	1	0	0	0	10989	420	15	2	463	2	OR2B2	6	27879484	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10		27879484	143235583	43	5355											
SCAND3	114821	hgsc.bcm.edu;ucsc.edu	37	chr6	28542931	28542931	+	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	ctaaatgcactttcacatggAgtctgttgcatgcttctgtg	8	15	9	9	0	3	0	1	0	2	0	3	1	3	1	0	1	3	4	0	1	2	4			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:28542931A>T	ENST00000452236.2	-	3	2168	c.1551T>A	c.(1549-1551)acT>acA	p.T517T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTCACATGGAGTCTGTTGCA	0.423																																						.											0													134	131	132					6																	28542931		2203	4300	6503	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.1551T>A	6.37:g.28542931A>T				Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			T	28542931	A	T	28542931	2	4	54	1	0	0	0	0	0	0	0	1	13876	291	11	5		5	SCAND3	6	28542931	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	663447	28542931	142572136	44	5356											
CCHCR1	54535	broad.mit.edu;hgsc.bcm.edu	37	chr6	31122478	31122478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggtctcccgcaggAgccggacctcctcctccagc	6	5	12	18	3	1	0	0	0	1	0	5	3	4	2	6	3	3	2	6	3	0	0			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:31122478A>G	ENST00000376266.5	-	4	451	c.329T>C	c.(328-330)cTc>cCc	p.L110P	CCHCR1_ENST00000396268.3_Missense_Mutation_p.L199P|CCHCR1_ENST00000451521.2_Missense_Mutation_p.L163P|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.L110P	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	110					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTCCCGCAGGAGCCGGACCTC	0.687																																						.											0													37	44	41					6																	31122478		1507	2709	4216	SO:0001583	missense	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.329T>C	6.37:g.31122478A>G	ENSP00000365442:p.Leu110Pro		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664623	0.29604	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557;ENST00000507829	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81	4.8	-6.7	0.01766	.	1.580850	0.03945	N	0.287466	T	0.01627	0.0052	N	0.22421	0.69	0.09310	N	0.999998	P;P;P;P;P	0.48407	0.583;0.523;0.523;0.91;0.666	B;B;B;P;B	0.48089	0.378;0.305;0.305;0.566;0.261	T	0.25257	-1.0137	10	0.27082	T	0.32	0.1774	10.2498	0.43362	0.2359:0.14:0.6242:0.0	.	110;110;110;163;199	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	P	199;110;110;110;163;74;74;110;84;74;110;110;110;136;110;208;110;110	ENSP00000379566:L199P;ENSP00000365442:L110P;ENSP00000379561:L110P;ENSP00000401039:L163P;ENSP00000414323:L74P;ENSP00000421393:L74P;ENSP00000390027:L110P;ENSP00000425682:L84P;ENSP00000421992:L74P;ENSP00000420941:L110P;ENSP00000398715:L110P;ENSP00000425595:L110P;ENSP00000402432:L208P;ENSP00000425377:L110P;ENSP00000420911:L110P	ENSP00000365442:L110P	L	-	2	0	CCHCR1	31230457	0.000000	0.05858	0.027000	0.17364	0.413000	0.31143	-0.838000	0.04372	-1.150000	0.02840	-0.312000	0.09012	CTC		0.687	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		G	31122478	A	G	31122478	3	3	54	1	0	0	0	0	1	0	0	0	2877	304	11	2	2079	2	CCHCR1	6	31122478	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	2579547	31122478	139992589	45	5357											
HLA-DRB5	3127	mdanderson.org	37	chr6	32487390	32487390	+	Missense_Mutation	SNP	T	T	G																															gaggttgtggtgctgcagggTctgggtccttgcaggataca																								rs77180119	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32487390T>G	ENST00000374975.3	-	3	471	c.409A>C	c.(409-411)Acc>Ccc	p.T137P		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGCTGCAGGGTCTGGGTCCTT	0.517													G|||	3551	0.709065	0.736	0.8357	5008	,	,		6170	0.6498		0.7823	False		,,,				2504	0.5685					.											0								G	PRO/THR	2269,1289		1096,77,606	38	41	40		409	1.7	1	6	dbSNP_131	40	5238,2644		2530,178,1233	no	missense	HLA-DRB5	NM_002125.3	38	3626,255,1839	GG,GT,TT		33.5448,36.2282,34.3794	benign	137/267	32487390	7507,3933	1779	3941	5720	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.409A>C	6.37:g.32487390T>G	ENSP00000364114:p.Thr137Pro			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1531	0.701007326007326	316	0.6422764227642277	279	0.7707182320441989	384	0.6713286713286714	552	0.7282321899736148	.	0.033	-1.320251	0.01320	0.637718	0.664552	ENSG00000198502	ENST00000374975	T	0.02890	4.12	4.69	1.73	0.24493	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.662393	0.15664	N	0.250756	T	0.00241	0.0007	N	0.00360	-1.595	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38178	-0.9673	9	0.02654	T	1	.	7.637	0.28272	0.0:0.2436:0.342:0.4144	.	64;137	Q29973;Q30154	.;DRB5_HUMAN	P	137	ENSP00000364114:T137P	ENSP00000364114:T137P	T	-	1	0	HLA-DRB5	32595368	0.029000	0.19370	0.970000	0.41538	0.617000	0.37484	0.078000	0.14761	0.323000	0.23307	-0.947000	0.02670	ACC		0.517	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		G	32487390	T	G	32487390	3	3	54	1	0	0	0	0	1	0	0	0	7209	1667	58	5	407	5	HLA-DRB5	6	32487390	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	1364912	32487390	138627677	46	5358	135	2									
HLA-DRB5	3127	mdanderson.org	37	chr6	32487398	32487398	+	Missense_Mutation	SNP	C	C	T																															ggtgctgcagggtctgggtcCttgcaggatacacagtcacc																								rs115198947	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32487398C>T	ENST00000374975.3	-	3	463	c.401G>A	c.(400-402)aGg>aAg	p.R134K		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGTCTGGGTCCTTGCAGGATA	0.507													T|||	3551	0.709065	0.736	0.8357	5008	,	,		5924	0.6498		0.7833	False		,,,				2504	0.5675					.											0								T	LYS/ARG	2211,1295		1063,85,605	37	40	39		401	2.3	0.1	6	dbSNP_132	39	5153,2663		2482,189,1237	no	missense	HLA-DRB5	NM_002125.3	26	3545,274,1842	TT,TC,CC		34.0711,36.9367,34.9585	benign	134/267	32487398	7364,3958	1753	3908	5661	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.401G>A	6.37:g.32487398C>T	ENSP00000364114:p.Arg134Lys			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1518	0.695054945054945	313	0.6361788617886179	278	0.7679558011049724	379	0.6625874125874126	548	0.7229551451187335	.	0.317	-0.964494	0.02249	0.630633	0.659289	ENSG00000198502	ENST00000374975	T	0.02552	4.25	4.69	2.31	0.28768	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.538580	0.21625	N	0.071572	T	0.00271	0.0008	N	0.00690	-1.25	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40175	-0.9577	9	0.02654	T	1	.	7.5532	0.27808	0.0:0.2637:0.0:0.7363	.	61;134	Q29973;Q30154	.;DRB5_HUMAN	K	134	ENSP00000364114:R134K	ENSP00000364114:R134K	R	-	2	0	HLA-DRB5	32595376	0.152000	0.22762	0.066000	0.19879	0.555000	0.35460	0.188000	0.17018	0.099000	0.17552	-0.369000	0.07265	AGG		0.507	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		T	32487398	C	T	32487398	3	4	54	1	0	0	0	0	1	0	0	0	7209	681	24	4	415	4	HLA-DRB5	6	32487398	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	8	32487398	138627669	47	5359	135	2									
HLA-DRB5	3127	mdanderson.org	37	chr6	32497970	32497970	+	Missense_Mutation	SNP	T	T	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	tcactgtcagctttgccatgTaggaacctccagggagcttc	8	11	10	12	0	2	0	2	0	0	0	4	2	3	2	3	2	4	3	3	2	2	3	rs201644181		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32497970T>C	ENST00000374975.3	-	1	94	c.32A>G	c.(31-33)tAc>tGc	p.Y11C		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CTTTGCCATGTAGGAACCTCC	0.567																																						.											0													56	64	61					6																	32497970		2172	4263	6435	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.32A>G	6.37:g.32497970T>C	ENSP00000364114:p.Tyr11Cys			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.014668	0.00422	.	.	ENSG00000198502	ENST00000374975	T	0.00256	8.42	4.54	0.796	0.18648	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.00012	0.0000	N	0.00419	-1.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	9	0.02654	T	1	.	9.3114	0.37908	0.0:0.755:0.0:0.245	.	11	Q30154	DRB5_HUMAN	C	11	ENSP00000364114:Y11C	ENSP00000364114:Y11C	Y	-	2	0	HLA-DRB5	32605948	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.070000	0.14573	-0.038000	0.13624	-2.830000	0.00107	TAC		0.567	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		C	32497970	T	C	32497970	3	2	54	1	0	0	0	0	1	0	0	0	7209	1638	57	2	792	2	HLA-DRB5	6	32497970	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	10572	32497970	138617097	48	5360											
SYNGAP1	8831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	33405554	33405554	+	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	ctgcctggatgacatgctgtAtgcacgcaccacctccaagc	9	8	9	15	1	0	1	0	1	0	0	1	2	1	2	4	1	4	4	4	1	2	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:33405554A>C	ENST00000418600.2	+	8	973	c.872A>C	c.(871-873)tAt>tCt	p.Y291S	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Y232S|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Y291S|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	291	C2.				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						GACATGCTGTATGCACGCACC	0.617																																						.											0													84	86	85					6																	33405554		2203	4300	6503	SO:0001583	missense	8831			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.872A>C	6.37:g.33405554A>C	ENSP00000403636:p.Tyr291Ser		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013696	0.75161	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.38077	1.16;1.16;1.16	4.79	4.79	0.61399	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.142516	0.48767	D	0.000170	T	0.56108	0.1963	M	0.86343	2.81	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.88	D;D;D;P	0.87578	0.998;0.996;0.996;0.758	T	0.65364	-0.6186	10	0.87932	D	0	.	12.3329	0.55049	1.0:0.0:0.0:0.0	.	291;291;291;291	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	S	291;291;291;232	ENSP00000293748:Y291S;ENSP00000403636:Y291S;ENSP00000412475:Y232S	ENSP00000293748:Y291S	Y	+	2	0	SYNGAP1	33513532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.009000	0.58944	0.533000	0.62120	TAT		0.617	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		C	33405554	A	C	33405554	3	2	54	1	0	0	0	0	1	0	0	0	15444	449	16	5	902	5	SYNGAP1	6	33405554	Missense_Mutation	SNP	A	TCGA-KO-8404-01A-11D-2310-10	907584	33405554	137709513	49	5361											
COL19A1	1310	broad.mit.edu;mdanderson.org	37	chr6	70873233	70873233	+	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	aacttagttttgtgttttacAgggcttaatgggaagaactg	11	15	11	4	0	0	1	0	0	0	1	0	2	0	2	0	2	3	3	0	2	6	6			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:70873233A>T	ENST00000322773.4	+	36	2448		c.e36-1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGTGTTTTACAGGGCTTAATG	0.403																																						.											0													86	75	79					6																	70873233		2203	4300	6503	SO:0001630	splice_region_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2347-1A>T	6.37:g.70873233A>T			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Splice_Site	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247720	0.59103	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70929954	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	6.509000	0.73725	2.315000	0.78130	0.533000	0.62120	.		0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Intron	T	70873233	A	T	70873233	5	4	54	1	0	0	0	0	0	0	1	0	3676	202	7	5	2483	5	COL19A1	6	70873233	Splice_Site	SNP	A	TCGA-KO-8404-01A-11D-2310-10	37467679	70873233	100241834	50	5362											
TRIM50	135892	mdanderson.org	37	chr7	72734197	72734197	+	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	gcgatgagctcatccaccttTttctgctcctgcttcagctc	5	14	7	15	1	3	1	2	1	1	0	6	2	5	1	3	0	4	4	3	0	0	3	rs3108461		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:72734197T>C	ENST00000333149.2	-	3	644	c.444A>G	c.(442-444)aaA>aaG	p.K148K	TRIM50_ENST00000453152.1_Silent_p.K148K|TRIM50_ENST00000493498.1_5'Flank	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	148						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CATCCACCTTTTTCTGCTCCT	0.612																																						.											0																																										SO:0001819	synonymous_variant	135892			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.444A>G	7.37:g.72734197T>C			Q86XT3	Silent	SNP	ENST00000333149.2	37	CCDS34654.1																																																																																				0.612	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		C	72734197	T	C	72734197	2	2	54	1	0	0	0	0	0	0	0	1	16523	1838	64	4		4	TRIM50	7	72734197	Silent	SNP	T	TCGA-KO-8404-01A-11D-2310-10		72734197	86404466	51	5363											
NCF1	653361	mdanderson.org	37	chr7	74197914	74197914	+	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	aagcgaggctggatcccagcGtccttcctcgagcccctgga	7	7	12	15	3	0	0	0	0	0	0	4	4	3	2	5	3	3	1	5	3	1	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:74197914G>A	ENST00000289473.4	+	7	691	c.621G>A	c.(619-621)gcG>gcA	p.A207A	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	207	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	GGATCCCAGCGTCCTTCCTCG	0.637																																						.											0													72	63	66					7																	74197914		2202	4298	6500	SO:0001819	synonymous_variant	653361			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.621G>A	7.37:g.74197914G>A			A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	CCDS34657.1																																																																																				0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		A	74197914	G	A	74197914	2	1	54	1	0	0	0	0	0	0	0	1	10216	1132	40	1		1	NCF1	7	74197914	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1463717	74197914	84940749	52	5364											
FGL2	10875	broad.mit.edu;mdanderson.org	37	chr7	76828642	76828642	+	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	aagattcagcttctccaggcGaccatgaagtacattgatct	12	11	8	10	1	3	3	1	2	2	1	4	4	3	3	2	1	2	2	2	1	3	4			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:76828642G>A	ENST00000248598.5	-	1	501	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	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	157						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						TTCTCCAGGCGACCATGAAGT	0.383																																						.											0													119	111	114					7																	76828642		2203	4300	6503	SO:0001583	missense	10875			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.469C>T	7.37:g.76828642G>A	ENSP00000248598:p.Arg157Cys			Missense_Mutation	SNP	ENST00000248598.5	37	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829255	0.71258	.	.	ENSG00000127951	ENST00000248598	T	0.59772	0.24	6.17	6.17	0.99709	.	0.045951	0.85682	D	0.000000	T	0.74809	0.3765	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.63192	0.912	T	0.74244	-0.3728	10	0.66056	D	0.02	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	157	Q14314	FGL2_HUMAN	C	157	ENSP00000248598:R157C	ENSP00000248598:R157C	R	-	1	0	FGL2	76666578	0.998000	0.40836	0.955000	0.39395	0.552000	0.35366	3.946000	0.56644	2.941000	0.99782	0.655000	0.94253	CGC		0.383	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		A	76828642	G	A	76828642	3	1	54	1	0	0	0	0	1	0	0	0	5873	1058	37	1	858	1	FGL2	7	76828642	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	2630728	76828642	82310021	53	5365											
LMTK2	22853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	97820153	97820153	+	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	agagagagacacaaaactccCgaagccccagctggagcagc	15	2	11	13	1	0	2	0	0	0	2	1	6	1	3	3	1	5	2	3	1	3	0			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:97820153C>T	ENST00000297293.5	+	10	1405	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					ACAAAACTCCCGAAGCCCCAG	0.488																																						.											0													164	180	175					7																	97820153		2203	4300	6503	SO:0001583	missense	22853			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.1112C>T	7.37:g.97820153C>T	ENSP00000297293:p.Pro371Leu		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579409	0.28180	.	.	ENSG00000164715	ENST00000297293	T	0.65364	-0.15	5.42	4.53	0.55603	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.291823	0.41823	D	0.000810	T	0.57257	0.2041	M	0.69248	2.105	0.45621	D	0.998552	B	0.17268	0.021	B	0.20767	0.031	T	0.54248	-0.8322	10	0.32370	T	0.25	.	9.522	0.39140	0.0:0.853:0.0:0.147	.	371	Q8IWU2	LMTK2_HUMAN	L	371	ENSP00000297293:P371L	ENSP00000297293:P371L	P	+	2	0	LMTK2	97658089	0.992000	0.36948	0.954000	0.39281	0.458000	0.32498	2.730000	0.47335	2.711000	0.92665	0.655000	0.94253	CCG		0.488	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		T	97820153	C	T	97820153	3	4	54	1	0	0	0	0	1	0	0	0	8859	652	23	1	1150	1	LMTK2	7	97820153	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	20991511	97820153	61318510	54	5366											
SMO	6608	broad.mit.edu	37	chr7	128846110	128846111	+	Frame_Shift_Ins	INS	-	-	C																															acttccttcaaagccctgggINScaccacctaccagcctctct																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:128846110_128846111insC	ENST00000249373.3	+	5	1320_1321	c.1040_1041insC	c.(1039-1044)ggcaccfs	p.T348fs		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	348					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	AAAGCCCTGGGCACCACCTACC	0.569			Mis		skin basal cell																																	.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0																																										SO:0001589	frameshift_variant	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1041dupC	7.37:g.128846111_128846111dupC	ENSP00000249373:p.Thr348fs		A4D1K5	Frame_Shift_Ins	INS	ENST00000249373.3	37	CCDS5811.1																																																																																				0.569	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		C	128846111	-	C	128846110	7	5	54	1	0	1	1	0	0	0	0	0	14800	1203	42	0	1058	0	SMO	7	128846110	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	31025957	128846110	30292553	55	5367											
SHH	6469	broad.mit.edu	37	chr7	155604741	155604742	+	Frame_Shift_Ins	INS	-	-	C																															ttcccgaaccccctgcccggINStccgcacgccagtcccgagc																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:155604741_155604742insC	ENST00000297261.2	-	1	225_226	c.75_76insG	c.(73-78)ggaccgfs	p.P26fs		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	26			P -> L (in HPE3). {ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|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 differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|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 ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCTGCCCGGTCCGCACGCCA	0.609																																						.											0																																										SO:0001589	frameshift_variant	6469				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.75_76insG	7.37:g.155604741_155604742insC	ENSP00000297261:p.Pro26fs		A4D247|Q75MC9	Frame_Shift_Ins	INS	ENST00000297261.2	37	CCDS5942.1																																																																																				0.609	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		C	155604742	-	C	155604741	7	5	54	1	0	1	1	0	0	0	0	0	14279	1261	44	0	1324	0	SHH	7	155604741	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	26758631	155604741	3533922	56	5368											
UBE3C	9690	mdanderson.org	37	chr7	157041098	157041099	+	Missense_Mutation	DNP	GC	GC	TT																															tgctggtggagctgccctttGcaggcttctttctttccaag																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:157041098_157041099GC>TT	ENST00000348165.5	+	19	2878_2879	c.2518_2519GC>TT	c.(2518-2520)GCa>TTa	p.A840L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	840	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)		GCTGCCCTTTGCAGGCTTCTTT	0.475																																						.											0																																										SO:0001583	missense	9690			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	Exception_encountered	7.37:g.157041098_157041099delinsTT	ENSP00000309198:p.Ala840Leu		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	DNP	ENST00000348165.5	37	CCDS34789.1																																																																																				0.475	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		TT	157041099	GC	TT	157041098	3	4	54	1	0	0	0	0	1	0	0	0	16878	1319	46	5	2592	5	UBE3C	7	157041098	Missense_Mutation	DNP	GC	TCGA-KO-8404-01A-11D-2310-10	1436357	157041098	2097565	57	5369	136	2									
UBE3C	9690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	157041099	157041099	+	Missense_Mutation	SNP	C	C	T																															gctggtggagctgccctttgCaggcttctttctttccaagt																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:157041099C>T	ENST00000348165.5	+	19	2879	c.2519C>T	c.(2518-2520)gCa>gTa	p.A840V		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	840	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)		CTGCCCTTTGCAGGCTTCTTT	0.478																																						.											0													94	96	95					7																	157041099		2203	4300	6503	SO:0001583	missense	9690			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.2519C>T	7.37:g.157041099C>T	ENSP00000309198:p.Ala840Val		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675491	0.88445	.	.	ENSG00000009335	ENST00000348165	T	0.58797	0.31	5.74	5.74	0.90152	HECT (4);	0.095457	0.64402	D	0.000001	T	0.77532	0.4144	M	0.76433	2.335	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.73708	0.981;0.981	T	0.78899	-0.2022	10	0.87932	D	0	.	19.9123	0.97029	0.0:1.0:0.0:0.0	.	840;693	Q15386;B4DHJ9	UBE3C_HUMAN;.	V	840	ENSP00000309198:A840V	ENSP00000309198:A840V	A	+	2	0	UBE3C	156733860	1.000000	0.71417	0.650000	0.29550	0.169000	0.22640	7.534000	0.82004	2.702000	0.92279	0.655000	0.94253	GCA		0.478	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		T	157041099	C	T	157041099	3	4	54	1	0	0	0	0	1	0	0	0	16878	710	25	4	2593	4	UBE3C	7	157041099	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	1	157041099	2097564	58	5370	136	2									
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	2836315	2836315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaagcctggatcagaacaGttcaccactagaaaataaaa	20	6	6	9	0	2	2	2	0	0	2	2	3	2	3	2	1	2	1	2	1	7	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:2836315G>T	ENST00000520002.1	-	56	8943	c.8388C>A	c.(8386-8388)aaC>aaA	p.N2796K	CSMD1_ENST00000537824.1_Missense_Mutation_p.N2795K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N2738K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N2738K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N2737K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N2796K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2796	Sushi 20. {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)		GATCAGAACAGTTCACCACTA	0.383																																						.											0													54	49	50					8																	2836315		1863	4090	5953	SO:0001583	missense	64478					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.8388C>A	8.37:g.2836315G>T	ENSP00000430733:p.Asn2796Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.50|16.50	3.141734|3.141734	0.57044|0.57044	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Complement control module (2);Sushi/SCR/CCP (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37293|0.37293	0.0998|0.0998	L|L	0.37697|0.37697	1.125|1.125	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.76494	.|0.702;0.901;0.999	.|B;P;D	.|0.87578	.|0.182;0.573;0.998	T|T	0.06534|0.06534	-1.0821|-1.0821	5|10	.|0.42905	.|T	.|0.14	.|.	9.4393|9.4393	0.38659|0.38659	0.158:0.0:0.842:0.0|0.158:0.0:0.842:0.0	.|.	.|2796;2796;2737	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	M|K	2213|2738;2796;2657;2795;2737	.|ENSP00000383047:N2738K;ENSP00000430733:N2796K;ENSP00000441462:N2795K;ENSP00000446243:N2737K	.|ENSP00000320445:N2657K	L|N	-|-	1|3	2|2	CSMD1|CSMD1	2823722|2823722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.544000|0.544000	0.35116|0.35116	5.212000|5.212000	0.65225|0.65225	2.400000|2.400000	0.81607|0.81607	0.563000|0.563000	0.77884|0.77884	CTG|AAC		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2836315	G	T	2836315	3	4	54	1	0	0	0	0	1	0	0	0	3944	1020	36	5	2373	5	CSMD1	8	2836315	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10		2836315	143527707	59	5371											
PABPC1	26986	mdanderson.org	37	chr8	101719138	101719138	+	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	cacgctgtgttgacatgactCgtggaacctgtgaagaagct	10	10	12	9	2	0	4	0	3	0	1	1	5	0	5	1	1	2	3	1	1	3	1	rs79940439		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:101719138C>T	ENST00000318607.5	-	10	2552	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	PABPC1_ENST00000522387.1_Missense_Mutation_p.R443Q|PABPC1_ENST00000519004.1_Missense_Mutation_p.R430Q|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	475					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)			TGACATGACTCGTGGAACCTG	0.398																																						.											0													79	75	76					8																	101719138		2203	4300	6503	SO:0001583	missense	26986			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.1424G>A	8.37:g.101719138C>T	ENSP00000313007:p.Arg475Gln		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.676811|4.676811	0.88445|0.88445	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000520868;ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	.|T;T;T;T	.|0.45276	.|1.71;1.67;2.73;0.9	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.128720	.|0.35378	.|N	.|0.003252	T|T	0.33904|0.33904	0.0879|0.0879	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.18968	.|0.032;0.001;0.001	.|B;B;B	.|0.09377	.|0.004;0.001;0.0	T|T	0.10474|0.10474	-1.0628|-1.0628	5|10	.|0.15952	.|T	.|0.53	.|.	20.0338|20.0338	0.97549|0.97549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|443;475;475	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	K|Q	8;128|475;430;443;22	.|ENSP00000313007:R475Q;ENSP00000429594:R430Q;ENSP00000429395:R443Q;ENSP00000428840:R22Q	.|ENSP00000313007:R475Q	E|R	-|-	1|2	0|0	PABPC1|PABPC1	101788314|101788314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.212000|7.212000	0.77941|0.77941	2.816000|2.816000	0.96949|0.96949	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.398	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101719138	C	T	101719138	3	4	54	1	0	0	0	0	1	0	0	0	11363	884	31	1	506	1	PABPC1	8	101719138	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	98882823	101719138	44644884	60	5372											
TG	7038	broad.mit.edu	37	chr8	133913781	133913782	+	Frame_Shift_Ins	INS	-	-	C																															gggacgcgcgtgaccgggggINSccagcccgcctgtgagagta																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:133913781_133913782insC	ENST00000220616.4	+	16	3657_3658	c.3617_3618insC	c.(3616-3621)ggccagfs	p.Q1207fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.Q1207fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1207	Thyroglobulin type-1 10. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGACCGGGGGCCAGCCCGCCT	0.619																																						.											0																																										SO:0001589	frameshift_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3619dupC	8.37:g.133913783_133913783dupC	ENSP00000220616:p.Gln1207fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	CCDS34944.1																																																																																				0.619	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133913782	-	C	133913781	7	5	54	1	0	1	1	0	0	0	0	0	15810	1203	42	0	3679	0	TG	8	133913781	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	32194643	133913781	12450241	61	5373											
GLDC	2731	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	6536228	6536228	+	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	aggccaggacatggtaggggCgtgaaatcctgcaaagggag	12	5	17	7	1	0	1	0	1	0	0	1	3	1	3	2	6	1	2	2	6	3	1	rs146939116		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:6536228C>T	ENST00000321612.6	-	23	2824	c.2674G>A	c.(2674-2676)Gcc>Acc	p.A892T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	892					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ATGGTAGGGGCGTGAAATCCT	0.527																																						.											0								C	THR/ALA	0,4406		0,0,2203	34	29	31		2674	5.2	1	9	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLDC	NM_000170.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	892/1021	6536228	1,13005	2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2674G>A	9.37:g.6536228C>T	ENSP00000370737:p.Ala892Thr		Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360114	0.95877	0.0	1.16E-4	ENSG00000178445	ENST00000321612	D	0.98178	-4.77	5.21	5.21	0.72293	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	H	0.98199	4.17	0.80722	D	1	D	0.76494	0.999	P	0.60949	0.881	D	0.98633	1.0672	10	0.87932	D	0	-17.3811	19.1172	0.93346	0.0:1.0:0.0:0.0	.	892	P23378	GCSP_HUMAN	T	892	ENSP00000370737:A892T	ENSP00000370737:A892T	A	-	1	0	GLDC	6526228	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.388000	0.79795	2.587000	0.87381	0.305000	0.20034	GCC		0.527	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		T	6536228	C	T	6536228	3	4	54	1	0	0	0	0	1	0	0	0	6433	768	27	1	400	1	GLDC	9	6536228	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		6536228	134677203	62	5374											
ADAMTSL1	92949	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	18706839	18706839	+	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	aggtgctcctgtctttctctCagtccgtggctgacctgcct	3	14	10	14	1	3	1	1	1	2	0	6	1	5	1	4	2	2	2	4	2	0	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:18706839C>T	ENST00000380548.4	+	14	2008	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.Q557*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	557	TSP type-1 4. {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)		GTCTTTCTCTCAGTCCGTGGC	0.602																																						.											0													52	42	46					9																	18706839		2203	4300	6503	SO:0001587	stop_gained	92949			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.1669C>T	9.37:g.18706839C>T	ENSP00000369921:p.Gln557*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	44	11.226218	0.99534	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000276935:Q557X	Q	+	1	0	ADAMTSL1	18696839	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.739000	0.84976	2.724000	0.93272	0.563000	0.77884	CAG		0.602	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18706839	C	T	18706839	4	4	54	1	0	0	0	0	0	1	0	0	274	827	29	4	1727	4	ADAMTSL1	9	18706839	Nonsense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	12170611	18706839	122506592	63	5375											
MUSK	4593	broad.mit.edu	37	chr9	113459692	113459692	+	Missense_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	caggacagtatcgatgtgtgGcaaaaaacagcctcgggaca	14	6	12	9	2	0	0	0	0	0	0	2	3	0	2	1	3	2	2	1	3	4	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:113459692G>A	ENST00000374448.4	+	5	708	c.574G>A	c.(574-576)Gca>Aca	p.A192T	MUSK_ENST00000416899.2_Missense_Mutation_p.A192T|MUSK_ENST00000374440.3_Missense_Mutation_p.A74T|MUSK_ENST00000189978.5_Missense_Mutation_p.A192T|MUSK_ENST00000374439.1_Missense_Mutation_p.A74T	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	192	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCGATGTGTGGCAAAAAACAG	0.483																																						.											0													138	139	138					9																	113459692		1948	4152	6100	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.574G>A	9.37:g.113459692G>A	ENSP00000363571:p.Ala192Thr		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177234	0.94846	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374440;ENST00000416899;ENST00000374439	T;T;T	0.76448	-1.02;-1.02;-1.02	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.91853	0.5493	10	0.87932	D	0	.	18.8079	0.92045	0.0:0.0:1.0:0.0	.	192;192	O15146;F5H6T2	MUSK_HUMAN;.	T	192;192;192;192;192;74;192;74	ENSP00000363571:A192T;ENSP00000363563:A74T;ENSP00000363562:A74T	ENSP00000189978:A192T	A	+	1	0	MUSK	112499513	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.991000	0.70602	2.774000	0.95407	0.655000	0.94253	GCA		0.483	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113459692	G	A	113459692	3	1	54	1	0	0	0	0	1	0	0	0	9989	1203	42	3	592	3	MUSK	9	113459692	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	94752853	113459692	27753739	64	5376											
STAM	8027	broad.mit.edu	37	chr10	17756602	17756603	+	Frame_Shift_Ins	INS	-	-	C																															aggcgccagtatatagtcctINScctcctgccgctactgctgc																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr10:17756602_17756603insC	ENST00000377524.3	+	14	1661_1662	c.1446_1447insC	c.(1447-1449)cctfs	p.P483fs	STAM_ENST00000540523.1_Frame_Shift_Ins_p.P372fs	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	483					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						TATATAGTCCTCCTCCTGCCGC	0.47																																						.											0																																										SO:0001589	frameshift_variant	8027			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.1448dupC	10.37:g.17756604_17756604dupC	ENSP00000366746:p.Pro483fs		B0YJ99|D3DRU5|Q8N6D9	Frame_Shift_Ins	INS	ENST00000377524.3	37	CCDS7122.1																																																																																				0.47	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		C	17756603	-	C	17756602	7	5	54	1	0	1	1	0	0	0	0	0	15247	1538	54	0	1500	0	STAM	10	17756602	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10		17756602	117778145	65	5377											
MYO3A	53904	mdanderson.org	37	chr10	26286159	26286159	+	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	aataacattctattgaccacGgaaggtggagtgaaactagt	15	10	10	6	1	1	2	0	2	1	0	1	4	1	4	1	3	2	0	1	3	6	5	rs12257119	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr10:26286159G>T	ENST00000265944.5	+	6	646	c.480G>T	c.(478-480)acG>acT	p.T160T	MYO3A_ENST00000543632.1_Silent_p.T160T|MYO3A_ENST00000376301.1_Silent_p.T160T|MYO3A_ENST00000376302.1_Silent_p.T160T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TATTGACCACGGAAGGTGGAG	0.318													T|||	458	0.0914537	0.2526	0.0548	5008	,	,		20309	0.004		0.0626	False		,,,				2504	0.0194					.											0								T		956,3450	734.1+/-410.5	95,766,1342	84	77	79		480	-4.3	0.7	10	dbSNP_120	79	469,8123	795.6+/-407.5	17,435,3844	no	coding-synonymous	MYO3A	NM_017433.4		112,1201,5186	TT,TG,GG		5.4586,21.6977,10.9632		160/1617	26286159	1425,11573	2203	4296	6499	SO:0001819	synonymous_variant	53904			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	ENST00000265944.5:c.480G>T	10.37:g.26286159G>T			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26286159	G	T	26286159	2	4	54	1	0	0	0	0	0	0	0	1	10076	1103	39	5		5	MYO3A	10	26286159	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	8529557	26286159	109248588	66	5378											
MUC6	4588	mdanderson.org	37	chr11	1016645	1016645	+	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	tgggtggaccctgtggccttGagcgttgttggtggaggaac	5	11	18	7	1	0	1	0	1	0	0	0	4	0	4	2	6	2	2	2	6	1	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1016645G>C	ENST00000421673.2	-	31	6206	c.6156C>G	c.(6154-6156)ctC>ctG	p.L2052L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2052	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)		CTGTGGCCTTGAGCGTTGTTG	0.562																																						.											0													466	446	453					11																	1016645		2199	4293	6492	SO:0001819	synonymous_variant	4588			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.6156C>G	11.37:g.1016645G>C			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	1016645	G	C	1016645	2	2	54	1	0	0	0	0	0	0	0	1	9980	1277	45	5		5	MUC6	11	1016645	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10		1016645	133989871	67	5379											
MUC6	4588	mdanderson.org	37	chr11	1017200	1017200	+	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	gttggcattgagtggatggaGgcagaagtggccatctgtgt	8	11	17	5	0	1	2	0	1	1	1	1	4	1	4	1	5	0	3	1	5	1	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1017200G>C	ENST00000421673.2	-	31	5651	c.5601C>G	c.(5599-5601)gcC>gcG	p.A1867A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1867	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)		AGTGGATGGAGGCAGAAGTGG	0.572																																						.											0													424	405	411					11																	1017200		2199	4285	6484	SO:0001819	synonymous_variant	4588			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.5601C>G	11.37:g.1017200G>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017200	G	C	1017200	2	2	54	1	0	0	0	0	0	0	0	1	9980	987	35	5		5	MUC6	11	1017200	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	555	1017200	133989316	68	5380											
KRTAP5-1	387264	mdanderson.org	37	chr11	1605979	1605979	+	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	ttggagcccccacaagaaccAcaggcccccttggagcaccc	10	4	9	18	0	0	1	0	0	0	1	0	3	0	3	6	3	3	1	6	3	2	2	rs59646474		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1605979A>G	ENST00000382171.2	-	1	534	c.501T>C	c.(499-501)tgT>tgC	p.C167C	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	167	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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)		CACAAGAACCACAGGCCCCCT	0.657																																						.											0													59	74	69					11																	1605979		2202	4299	6501	SO:0001819	synonymous_variant	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.501T>C	11.37:g.1605979A>G				Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																				0.657	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		G	1605979	A	G	1605979	2	3	54	1	0	0	0	0	0	0	0	1	8558	157	6	2		2	KRTAP5-1	11	1605979	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	588779	1605979	133400537	69	5381											
OR51M1	390059	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	5410780	5410780	+	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	ctttatgtacatggttgccaTctcaggcaattgtttcattc	8	17	7	9	0	2	0	2	0	1	0	4	0	2	0	1	2	2	4	1	2	3	7			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:5410780T>A	ENST00000328611.3	+	1	174	c.152T>A	c.(151-153)aTc>aAc	p.I51N	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	51					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)		ATGGTTGCCATCTCAGGCAAT	0.448																																						.											0													172	159	163					11																	5410780		1966	4154	6120	SO:0001583	missense	390059			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.152T>A	11.37:g.5410780T>A	ENSP00000333196:p.Ile51Asn		Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397591	0.42512	.	.	ENSG00000184698	ENST00000328611	T	0.00500	6.96	5.01	5.01	0.66863	.	0.000000	0.34411	U	0.003981	T	0.02342	0.0072	M	0.93062	3.375	0.31105	N	0.710601	D	0.64830	0.994	D	0.64042	0.921	T	0.00888	-1.1526	10	0.87932	D	0	.	13.6825	0.62493	0.0:0.0:0.0:1.0	.	40	Q9H341	O51M1_HUMAN	N	51	ENSP00000333196:I51N	ENSP00000333196:I51N	I	+	2	0	OR51M1	5367356	0.827000	0.29292	0.824000	0.32777	0.016000	0.09150	5.564000	0.67359	2.101000	0.63845	0.528000	0.53228	ATC		0.448	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		A	5410780	T	A	5410780	3	1	54	1	0	0	0	0	1	0	0	0	11103	1435	50	5	154	5	OR51M1	11	5410780	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	3804801	5410780	129595736	70	5382											
OR56A1	120796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	6048328	6048328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaaattggtagattcTgttaagggtgaaattatcac	14	12	9	6	0	2	2	1	1	1	1	2	2	2	2	1	2	1	2	1	2	5	5			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:6048328T>C	ENST00000316650.5	-	1	643	c.607A>G	c.(607-609)Aga>Gga	p.R203G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTAGATTCTGTTAAGGGTG	0.448																																						.											0													66	65	65					11																	6048328		2201	4296	6497	SO:0001583	missense	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.607A>G	11.37:g.6048328T>C	ENSP00000321246:p.Arg203Gly		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	T	4.164	0.028925	0.08054	.	.	ENSG00000180934	ENST00000316650	T	0.00115	8.71	4.27	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.169443	0.27961	N	0.017146	T	0.00210	0.0006	M	0.71036	2.16	0.09310	N	1	P	0.38250	0.624	P	0.48488	0.579	T	0.41662	-0.9496	10	0.33940	T	0.23	.	1.4257	0.02322	0.256:0.0839:0.2613:0.3987	.	203	Q8NGH5	O56A1_HUMAN	G	203	ENSP00000321246:R203G	ENSP00000321246:R203G	R	-	1	2	OR56A1	6004904	0.000000	0.05858	0.095000	0.20976	0.003000	0.03518	-0.319000	0.08039	-0.042000	0.13535	-0.336000	0.08194	AGA		0.448	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		C	6048328	T	C	6048328	3	2	54	1	0	0	0	0	1	0	0	0	11133	1588	55	2	353	2	OR56A1	11	6048328	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	637548	6048328	128958188	71	5383											
OR2D3	120775	ucsc.edu	37	chr11	6942589	6942589	+	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	tgtatgacacagataattgtCtttcttctggttgggtgtac	8	17	10	6	0	3	2	0	1	3	1	3	2	3	2	0	2	1	3	0	2	3	7	rs59264610|rs202205015	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:6942589C>T	ENST00000317834.3	+	1	385	c.357C>T	c.(355-357)gtC>gtT	p.V119V		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGATAATTGTCTTTCTTCTGG	0.448																																						.											0													137	143	141					11																	6942589		2191	4289	6480	SO:0001819	synonymous_variant	120775			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.357C>T	11.37:g.6942589C>T			B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																				0.448	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		T	6942589	C	T	6942589	2	4	54	1	0	0	0	0	0	0	0	1	10995	900	32	4		4	OR2D3	11	6942589	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	894261	6942589	128063927	72	5384											
PTPN5	84867	broad.mit.edu;mdanderson.org	37	chr11	18755149	18755149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagagggtcgtcagggTctggtgaggtcagacacact	10	8	14	9	1	4	3	3	1	1	2	5	3	4	3	0	4	1	0	0	4	1	0			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:18755149T>C	ENST00000358540.2	-	10	1464	c.1034A>G	c.(1033-1035)gAc>gGc	p.D345G	PTPN5_ENST00000396167.2_Missense_Mutation_p.D313G|PTPN5_ENST00000477854.1_Missense_Mutation_p.D149G|PTPN5_ENST00000396170.1_Missense_Mutation_p.D313G|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396168.1_Missense_Mutation_p.D321G|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.D345G	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	345	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTCGTCAGGGTCTGGTGAGGT	0.592																																						.											0													183	169	174					11																	18755149		2199	4293	6492	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1034A>G	11.37:g.18755149T>C	ENSP00000351342:p.Asp345Gly		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187674	0.78789	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.058671	0.64402	D	0.000003	T	0.79604	0.4474	N	0.17345	0.48	0.53688	D	0.999974	B;P	0.49961	0.012;0.93	B;P	0.51101	0.035;0.659	T	0.81395	-0.0952	10	0.45353	T	0.12	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	345;313	P54829;B3KXG7	PTN5_HUMAN;.	G	149;345;313;345;313;321	ENSP00000435056:D149G;ENSP00000351342:D345G;ENSP00000379473:D313G;ENSP00000379474:D345G;ENSP00000379470:D313G;ENSP00000379471:D321G	ENSP00000351342:D345G	D	-	2	0	PTPN5	18711725	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.457000	0.45005	2.164000	0.68074	0.533000	0.62120	GAC		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		C	18755149	T	C	18755149	3	2	54	1	0	0	0	0	1	0	0	0	12791	1667	58	2	687	2	PTPN5	11	18755149	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	11812560	18755149	116251367	73	5385											
DGKZ	8525	broad.mit.edu	37	chr11	46398729	46398730	+	Frame_Shift_Del	DEL	CT	CT	-																															cctcccaacccccacttcccCtctccccacctcaccctgct																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:46398729_46398730delCT	ENST00000454345.1	+	26	2998_2999	c.2873_2874delCT	c.(2872-2874)cctfs	p.P958fs	MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000527911.1_Frame_Shift_Del_p.P770fs|DGKZ_ENST00000528615.1_Frame_Shift_Del_p.P548fs|DGKZ_ENST00000318201.8_Frame_Shift_Del_p.P747fs|DGKZ_ENST00000532868.2_Frame_Shift_Del_p.P774fs|DGKZ_ENST00000421244.2_Frame_Shift_Del_p.P770fs|DGKZ_ENST00000343674.6_Frame_Shift_Del_p.P786fs|DGKZ_ENST00000395574.3_Frame_Shift_Del_p.P736fs|DGKZ_ENST00000543978.1_Frame_Shift_Del_p.P122fs|DGKZ_ENST00000456247.2_Frame_Shift_Del_p.P769fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	958					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)		CCCACTTCCCCTCTCCCCACCT	0.624																																						.											0																																										SO:0001589	frameshift_variant	8525			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.2873_2874delCT	11.37:g.46398731_46398732delCT	ENSP00000412178:p.Pro958fs		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Del	DEL	ENST00000454345.1	37	CCDS41640.1																																																																																				0.624	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		-	46398730	CT	-	46398729	7	5	54	1	0	1	0	1	0	0	0	0	4474	681	24	0	3418	0	DGKZ	11	46398729	Frame_Shift_Del	DEL	CT	TCGA-KO-8404-01A-11D-2310-10	27643580	46398729	88607787	74	5386											
OR1S2	219958	mdanderson.org	37	chr11	57970967	57970967	+	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	ctgatgatgcagacataggaGaagaagatgagtacaaaggg	17	6	14	4	0	0	7	0	3	0	4	0	8	0	7	0	2	2	2	0	2	5	2	rs138762515		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:57970967G>A	ENST00000302592.6	-	1	686	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F229F(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGACATAGGAGAAGAAGATGA	0.438																																						.											1	Substitution - coding silent(1)	kidney(1)											154	129	138					11																	57970967		2201	4296	6497	SO:0001819	synonymous_variant	219958			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.687C>T	11.37:g.57970967G>A			Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	CCDS31545.1																																																																																				0.438	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57970967	G	A	57970967	2	1	54	1	0	0	0	0	0	0	0	1	10973	933	33	4		4	OR1S2	11	57970967	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	11572238	57970967	77035549	75	5387											
OR1S1	219959	broad.mit.edu;mdanderson.org	37	chr11	57982580	57982580	+	Missense_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	acttttctattgtgtttgtcGtcattgacaatttgctcttg	6	21	7	7	1	3	1	1	1	2	0	4	1	3	1	0	0	1	2	0	0	2	8	rs147498041		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:57982580G>A	ENST00000309433.6	+	1	364	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTGTTTGTCGTCATTGACAA	0.453													G|||	1	0.000199681	0	0	5008	,	,		22244	0		0	False		,,,				2504	0.001					.											0								G	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	182	171	175		364	3.5	0.3	11	dbSNP_134	175	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR1S1	NM_001004458.1	29	0,3,6494	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	122/326	57982580	3,12991	2201	4296	6497	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.364G>A	11.37:g.57982580G>A	ENSP00000311688:p.Val122Ile		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	0.524	-0.860938	0.02610	2.27E-4	2.33E-4	ENSG00000172774	ENST00000309433	T	0.03004	4.08	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.546164	0.15053	N	0.283208	T	0.02418	0.0074	N	0.10916	0.065	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45440	-0.9261	10	0.22109	T	0.4	.	11.1634	0.48528	0.0:0.0:0.8158:0.1842	.	122	Q8NH92	OR1S1_HUMAN	I	122	ENSP00000311688:V122I	ENSP00000311688:V122I	V	+	1	0	OR1S1	57739156	0.000000	0.05858	0.349000	0.25694	0.286000	0.27126	-0.525000	0.06214	1.770000	0.52166	0.479000	0.44913	GTC		0.453	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		A	57982580	G	A	57982580	3	1	54	1	0	0	0	0	1	0	0	0	10972	1145	40	1	366	1	OR1S1	11	57982580	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	11613	57982580	77023936	76	5388											
FRMD8	83786	broad.mit.edu	37	chr11	65161559	65161560	+	Frame_Shift_Ins	INS	-	-	G																															cgtgttcttcccaaagcggcINSgggagctccaggtgaggcag																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:65161559_65161560insG	ENST00000317568.5	+	5	566_567	c.403_404insG	c.(403-405)cggfs	p.R135fs	FRMD8_ENST00000355991.5_Frame_Shift_Ins_p.R79fs|FRMD8_ENST00000416776.2_Frame_Shift_Ins_p.R101fs	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	135	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCAAAGCGGCGGGAGCTCCAG	0.658																																						.											0																																										SO:0001589	frameshift_variant	83786			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.406dupG	11.37:g.65161562_65161562dupG	ENSP00000319726:p.Arg135fs		B4E2P1|Q86V56|Q8NCB5	Frame_Shift_Ins	INS	ENST00000317568.5	37	CCDS8102.1																																																																																				0.658	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		G	65161560	-	G	65161559	7	5	54	1	0	1	1	0	0	0	0	0	6056	759	27	0	417	0	FRMD8	11	65161559	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	7178979	65161559	69844957	77	5389											
CATSPER1	117144	broad.mit.edu	37	chr11	65792709	65792709	+	Frame_Shift_Del	DEL	A	A	-																															tggagatatcctgggtatggActtttttggacatctgggtg																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:65792709delA	ENST00000312106.5	-	1	1279	c.1142delT	c.(1141-1143)gtcfs	p.V381fs		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	381					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGGGTATGGACTTTTTTGGA	0.537																																						.											0													134	117	123					11																	65792709		2201	4296	6497	SO:0001589	frameshift_variant	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1142delT	11.37:g.65792709delA	ENSP00000309052:p.Val381fs		Q96P76	Frame_Shift_Del	DEL	ENST00000312106.5	37	CCDS8127.1																																																																																				0.537	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		-	65792709	A	-	65792709	7	5	54	1	0	1	0	1	0	0	0	0	2687	275	10	0	1248	0	CATSPER1	11	65792709	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	631150	65792709	69213807	78	5390											
C11orf80	79703	broad.mit.edu;hgsc.bcm.edu	37	chr11	66555695	66555696	+	Frame_Shift_Ins	INS	-	-	A																															cttcagaggaaggcagctatINStctcaggatatgacaggggt																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:66555695_66555696insA	ENST00000360962.4	+	5	595_596	c.588_589insA	c.(589-591)tctfs	p.S197fs	C11orf80_ENST00000540737.1_Frame_Shift_Ins_p.S31fs|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000346672.4_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000525449.2_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	197										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AAGGCAGCTATTCTCAGGATAT	0.401																																						.											0																																										SO:0001589	frameshift_variant	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	Exception_encountered	11.37:g.66555695_66555696insA	ENSP00000354227:p.Ser197fs		Q9H677	Frame_Shift_Ins	INS	ENST00000360962.4	37	CCDS53664.1																																																																																				0.401	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		A	66555696	-	A	66555695	7	5	54	1	0	1	1	0	0	0	0	0	1664	1500	52	0	606	0	C11orf80	11	66555695	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	762986	66555695	68450821	79	5391	137	2									
C11orf80	79703	bcgsc.ca	37	chr11	66555696	66555697	+	Frame_Shift_Ins	INS	-	-	A																															ttcagaggaaggcagctattINSctcaggatatgacaggggta																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:66555696_66555697insA	ENST00000360962.4	+	5	596_597	c.589_590insA	c.(589-591)tctfs	p.S197fs	C11orf80_ENST00000540737.1_Frame_Shift_Ins_p.S31fs|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000346672.4_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000525449.2_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	197										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AGGCAGCTATTCTCAGGATATG	0.396																																						.											0																																										SO:0001589	frameshift_variant	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	Exception_encountered	11.37:g.66555696_66555697insA	ENSP00000354227:p.Ser197fs		Q9H677	Frame_Shift_Ins	INS	ENST00000360962.4	37	CCDS53664.1																																																																																				0.396	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		A	66555697	-	A	66555696	7	5	54	1	0	1	1	0	0	0	0	0	1664	1783	62	0	607	0	C11orf80	11	66555696	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	1	66555696	68450820	80	5392	137	2									
KRTAP5-7	440050	mdanderson.org	37	chr11	71238645	71238645	+	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	ccagtgcagctgctataagcCctgctgctgctcctcaggct	6	10	10	15	0	1	0	1	0	0	0	2	0	2	0	3	1	7	7	3	1	2	2	rs201904441	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:71238645C>A	ENST00000398536.4	+	1	333	c.299C>A	c.(298-300)cCc>cAc	p.P100H		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	100	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						tgctataagccctgctgctgc	0.632													c|||	3	0.000599042	0.0023	0	5008	,	,		14152	0		0	False		,,,				2504	0					.											0													69	88	82					11																	71238645		2199	4292	6491	SO:0001583	missense	440050			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.299C>A	11.37:g.71238645C>A	ENSP00000417330:p.Pro100His		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	8.998	0.979405	0.18812	.	.	ENSG00000244411	ENST00000398536	T	0.01397	4.94	1.34	1.34	0.21922	.	.	.	.	.	T	0.04137	0.0115	M	0.91510	3.215	0.21579	N	0.999634	D	0.65815	0.995	P	0.46758	0.526	T	0.32534	-0.9903	9	0.51188	T	0.08	.	3.7081	0.08408	0.0:0.7549:0.0:0.2451	.	100	Q6L8G8	KRA57_HUMAN	H	100	ENSP00000417330:P100H	ENSP00000417330:P100H	P	+	2	0	KRTAP5-7	70916293	0.012000	0.17670	0.672000	0.29872	0.043000	0.13939	-0.334000	0.07883	1.080000	0.41073	0.281000	0.19383	CCC		0.632	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			A	71238645	C	A	71238645	3	1	54	1	0	0	0	0	1	0	0	0	8566	623	22	5	301	5	KRTAP5-7	11	71238645	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	4682949	71238645	63767871	81	5393											
KRTAP5-7	440050	mdanderson.org	37	chr11	71238685	71238685	+	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	tgtgggtcatcctgctgccaGtccagctgctgtaagccctg	5	11	12	13	0	1	0	1	0	0	0	3	0	3	0	4	1	5	4	4	1	1	1	rs568152352	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:71238685G>A	ENST00000398536.4	+	1	373	c.339G>A	c.(337-339)caG>caA	p.Q113Q		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	113	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						cctgctgccagtccagctgct	0.617													g|||	3	0.000599042	0.0023	0	5008	,	,		19208	0		0	False		,,,				2504	0					.											0																																										SO:0001819	synonymous_variant	440050			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.339G>A	11.37:g.71238685G>A			B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	CCDS41682.1																																																																																				0.617	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			A	71238685	G	A	71238685	2	1	54	1	0	0	0	0	0	0	0	1	8566	1020	36	4		4	KRTAP5-7	11	71238685	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	40	71238685	63767831	82	5394											
OR8B2	26595	mdanderson.org	37	chr11	124252982	124252982	+	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	gagataatattcttttttgaCacaaagttcattagcatttt	13	18	5	5	0	2	2	1	1	1	1	2	3	2	2	0	0	1	2	0	0	4	10	rs71491825		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:124252982C>T	ENST00000375013.2	-	1	276	c.258G>A	c.(256-258)gtG>gtA	p.V86V		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	86						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)|large_intestine(3)|lung(13)|ovary(1)	23		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)		TCTTTTTTGACACAAAGTTCA	0.383													c|||	1	0.000199681	0	0	5008	,	,		23366	0		0.001	False		,,,				2504	0					.											0													138	133	135					11																	124252982		2201	4299	6500	SO:0001819	synonymous_variant	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.258G>A	11.37:g.124252982C>T			Q8NGH2	Silent	SNP	ENST00000375013.2	37	CCDS31708.1																																																																																				0.383	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		T	124252982	C	T	124252982	2	4	54	1	0	0	0	0	0	0	0	1	11227	465	17	4		4	OR8B2	11	124252982	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	53014297	124252982	10753534	83	5395											
NANOG	79923	mdanderson.org	37	chr12	7947571	7947571	+	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	gccagtgacttggaggctgcCttggaagctgctggggaagg	7	8	18	8	0	0	1	0	1	0	0	0	4	0	4	2	6	3	3	2	6	2	2	rs4012937		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:7947571C>T	ENST00000229307.4	+	4	1017	c.798C>T	c.(796-798)gcC>gcT	p.A266A	NANOG_ENST00000526286.1_Silent_p.A250A	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	266	Sufficient for strong 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)		TGGAGGCTGCCTTGGAAGCTG	0.473																																						.											0													6	7	7					12																	7947571		907	2018	2925	SO:0001819	synonymous_variant	79923			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.798C>T	12.37:g.7947571C>T			D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	ENST00000229307.4	37	CCDS31736.1																																																																																				0.473	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		T	7947571	C	T	7947571	2	4	54	1	0	0	0	0	0	0	0	1	10150	668	24	4		4	NANOG	12	7947571	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10		7947571	125904324	84	5396											
TAS2R10	50839	broad.mit.edu;mdanderson.org	37	chr12	10978222	10978222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcttctgtgttggagTctctcaatcctgtcacattc	7	15	8	11	0	4	1	2	1	2	0	7	2	5	2	1	1	1	2	1	1	1	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:10978222T>C	ENST00000240619.2	-	1	735	c.647A>G	c.(646-648)gAc>gGc	p.D216G		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	216					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)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGTGTTGGAGTCTCTCAATCC	0.348																																						.											0													110	107	108					12																	10978222		2203	4300	6503	SO:0001583	missense	50839			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.647A>G	12.37:g.10978222T>C	ENSP00000240619:p.Asp216Gly		Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167375	0.57476	.	.	ENSG00000121318	ENST00000240619	T	0.37411	1.2	4.81	4.81	0.61882	.	0.445268	0.21042	N	0.081146	T	0.69061	0.3069	H	0.94264	3.515	0.21719	N	0.999578	D	0.76494	0.999	D	0.83275	0.996	T	0.67193	-0.5732	10	0.87932	D	0	.	12.5979	0.56481	0.0:0.0:0.0:1.0	.	216	Q9NYW0	T2R10_HUMAN	G	216	ENSP00000240619:D216G	ENSP00000240619:D216G	D	-	2	0	TAS2R10	10869489	0.010000	0.17322	0.049000	0.19019	0.012000	0.07955	1.853000	0.39358	1.930000	0.55929	0.477000	0.44152	GAC		0.348	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			C	10978222	T	C	10978222	3	2	54	1	0	0	0	0	1	0	0	0	15563	1667	58	2	280	2	TAS2R10	12	10978222	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	3030651	10978222	122873673	85	5397											
TAS2R30	259293	mdanderson.org	37	chr12	11286164	11286164	+	Missense_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	aggaggtcacagtttgcaaaGcttttatgtggaccttggtg	9	13	13	6	0	1	0	1	0	0	0	1	2	1	2	1	4	2	3	1	4	2	4	rs200661425		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:11286164G>A	ENST00000539585.1	-	1	1079	c.680C>T	c.(679-681)gCt>gTt	p.A227V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	227					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)	p.A227V(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGTTTGCAAAGCTTTTATGTG	0.418																																						.											2	Substitution - Missense(2)	autonomic_ganglia(1)|skin(1)											198	208	205					12																	11286164		2203	4300	6503	SO:0001583	missense	259293			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.680C>T	12.37:g.11286164G>A	ENSP00000444736:p.Ala227Val		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	13.13	2.144355	0.37825	.	.	ENSG00000256188	ENST00000539585	T	0.01422	4.91	2.6	2.6	0.31112	.	.	.	.	.	T	0.03651	0.0104	M	0.70595	2.14	0.09310	N	1	P	0.40250	0.709	P	0.46975	0.533	T	0.27938	-1.0059	9	0.46703	T	0.11	.	8.7017	0.34329	0.0:0.0:1.0:0.0	.	227	P59541	T2R30_HUMAN	V	227	ENSP00000444736:A227V	ENSP00000444736:A227V	A	-	2	0	TAS2R30	11177431	0.677000	0.27577	0.024000	0.17045	0.426000	0.31534	2.697000	0.47060	1.454000	0.47793	0.313000	0.20887	GCT		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		A	11286164	G	A	11286164	3	1	54	1	0	0	0	0	1	0	0	0	15570	971	34	4	283	4	TAS2R30	12	11286164	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	307942	11286164	122565731	86	5398											
C12orf77	196415	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr12	25147251	25147251	+	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	ttatatgaaaattgtcatagCatgatgtaggctgatttaaa	15	15	8	3	0	1	3	1	3	0	0	1	3	1	3	0	1	1	3	0	1	8	7			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:25147251C>T	ENST00000549828.1	-	4	622	c.418G>A	c.(418-420)Gct>Act	p.A140T		NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	140										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						ATTGTCATAGCATGATGTAGG	0.363																																						.											0													76	67	69					12																	25147251		1815	4071	5886	SO:0001583	missense	196415			BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.418G>A	12.37:g.25147251C>T	ENSP00000447146:p.Ala140Thr			Missense_Mutation	SNP	ENST00000549828.1	37	CCDS44846.1	.	.	.	.	.	.	.	.	.	.	C	1.748	-0.489875	0.04322	.	.	ENSG00000226397	ENST00000549828	T	0.55052	0.54	0.225	0.225	0.15325	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.09310	N	1	P	0.46395	0.877	P	0.51866	0.682	T	0.29579	-1.0007	8	0.87932	D	0	.	.	.	.	.	140	C9JDV5	CL097_HUMAN	T	140	ENSP00000447146:A140T	ENSP00000447146:A140T	A	-	1	0	C12orf77	25038518	0.002000	0.14202	0.017000	0.16124	0.026000	0.11368	0.265000	0.18515	0.300000	0.22699	0.305000	0.20034	GCT		0.363	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		T	25147251	C	T	25147251	3	4	54	1	0	0	0	0	1	0	0	0	1716	710	25	4	23	4	C12orf77	12	25147251	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	13861087	25147251	108704644	87	5399											
DDX11	1663	mdanderson.org	37	chr12	31242981	31242981	+	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	tggcccttgggaaggaggccCgggcctgtccctattacggg	5	8	16	12	2	0	0	0	0	0	0	1	2	1	2	4	6	1	0	4	6	3	3	rs3892690		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:31242981C>A	ENST00000407793.2	+	9	1293	c.1042C>A	c.(1042-1044)Cgg>Agg	p.R348R	DDX11_ENST00000545668.1_Silent_p.R348R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.R348R|DDX11_ENST00000228264.6_Silent_p.R322R|DDX11_ENST00000350437.4_Silent_p.R348R	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	348	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)					GAAGGAGGCCCGGGCCTGTCC	0.647										Multiple Myeloma(12;0.14)																												.											0													1	2	2					12																	31242981		1322	2876	4198	SO:0001819	synonymous_variant	1663			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.1042C>A	12.37:g.31242981C>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																				0.647	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31242981	C	A	31242981	2	1	54	1	0	0	0	0	0	0	0	1	4343	643	23	5		5	DDX11	12	31242981	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	6095730	31242981	102608914	88	5400											
FMNL3	91010	broad.mit.edu	37	chr12	50042932	50042932	+	Missense_Mutation	SNP	T	T	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	cttccggtcagtggacttggTatccagcagctaggagaggg	8	9	15	9	1	1	1	1	0	0	1	3	3	3	2	2	5	2	3	2	5	2	4			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:50042932T>C	ENST00000293590.5	-	21	2628	c.2395A>G	c.(2395-2397)Acc>Gcc	p.T799A	FMNL3_ENST00000335154.5_Missense_Mutation_p.T799A|FMNL3_ENST00000550488.1_Missense_Mutation_p.T799A|FMNL3_ENST00000352151.5_Missense_Mutation_p.T748A			Q8IVF7	FMNL3_HUMAN	formin-like 3	799	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GTGGACTTGGTATCCAGCAGC	0.572																																						.											0													124	134	131					12																	50042932		2105	4233	6338	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2395A>G	12.37:g.50042932T>C	ENSP00000293590:p.Thr799Ala		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	T	24.4	4.531648	0.85706	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	M	0.85859	2.78	0.80722	D	1	D;D;D	0.69078	0.995;0.99;0.997	D;D;D	0.79108	0.941;0.98;0.992	T	0.57370	-0.7823	10	0.62326	D	0.03	.	14.7946	0.69868	0.0:0.0:0.0:1.0	.	748;799;799	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	A	799;799;748;799	ENSP00000335655:T799A;ENSP00000447479:T799A;ENSP00000344311:T748A;ENSP00000293590:T799A	ENSP00000293590:T799A	T	-	1	0	FMNL3	48329199	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.934000	0.87649	2.199000	0.70637	0.533000	0.62120	ACC		0.572	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		C	50042932	T	C	50042932	3	2	54	1	0	0	0	0	1	0	0	0	5953	1638	57	2	712	2	FMNL3	12	50042932	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	18799951	50042932	83808963	89	5401											
KRT3	3850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	53189775	53189775	+	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	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-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:53189775C>T	ENST00000417996.2	-	1	126	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	KRT3_ENST00000309505.3_Missense_Mutation_p.G18S	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																																						.											0													26	33	31					12																	53189775		2202	4299	6501	SO:0001583	missense	3850				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>A	12.37:g.53189775C>T	ENSP00000413479:p.Gly18Ser		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942917	0.34283	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.80566	-1.39;-1.39	5.17	3.3	0.37823	.	0.000000	0.47852	D	0.000216	T	0.58935	0.2157	L	0.31526	0.94	0.25853	N	0.983919	P	0.42375	0.778	B	0.26864	0.074	T	0.51196	-0.8736	10	0.22109	T	0.4	.	6.36	0.21422	0.392:0.5193:0.0:0.0886	.	18	P12035	K2C3_HUMAN	S	18	ENSP00000413479:G18S;ENSP00000312206:G18S	ENSP00000312206:G18S	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		T	53189775	C	T	53189775	3	4	54	1	0	0	0	0	1	0	0	0	8466	652	23	1	1870	1	KRT3	12	53189775	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	3146843	53189775	80662120	90	5402											
NAB2	4665	mdanderson.org	37	chr12	57485373	57485373	+	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	cctggggcaggggacccccgGatctggccaggccggagcac	6	3	17	15	2	1	0	0	0	1	0	1	3	1	3	5	8	1	2	5	8	0	0			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:57485373G>T	ENST00000300131.3	+	2	927	c.549G>T	c.(547-549)cgG>cgT	p.R183R	NAB2_ENST00000357680.4_Silent_p.R183R|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.R183R	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	183					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGACCCCCGGATCTGGCCAG	0.667																																						.											0													24	27	26					12																	57485373		2202	4299	6501	SO:0001819	synonymous_variant	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.549G>T	12.37:g.57485373G>T			B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	CCDS8930.1																																																																																				0.667	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		T	57485373	G	T	57485373	2	4	54	1	0	0	0	0	0	0	0	1	10132	1161	41	5		5	NAB2	12	57485373	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	4295598	57485373	76366522	91	5403											
OSBPL8	114882	broad.mit.edu	37	chr12	76763581	76763582	+	Frame_Shift_Ins	INS	-	-	C																															ggtctttggcatttatggctINScgagttacccgttgccagag																								rs571718491		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:76763581_76763582insC	ENST00000261183.3	-	20	2554_2555	c.2075_2076insG	c.(2074-2076)cgafs	p.R692fs	OSBPL8_ENST00000393249.2_Frame_Shift_Ins_p.R650fs|OSBPL8_ENST00000393250.4_Frame_Shift_Ins_p.R650fs	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	692					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						CATTTATGGCTCGAGTTACCCG	0.366																																						.											0																																										SO:0001589	frameshift_variant	114882			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.2076dupG	12.37:g.76763582_76763582dupC	ENSP00000261183:p.Arg692fs		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Frame_Shift_Ins	INS	ENST00000261183.3	37	CCDS31862.1																																																																																				0.366	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		C	76763582	-	C	76763581	7	5	54	1	0	1	1	0	0	0	0	0	11283	1538	54	0	613	0	OSBPL8	12	76763581	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	19278208	76763581	57088314	92	5404											
PPP1CC	5501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	111160464	111160464	+	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	cagttggtcgcataattcgcCgaatctgctccatagattga	10	12	9	10	3	1	2	0	1	1	1	4	3	2	2	2	1	1	3	2	1	3	5			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:111160464C>T	ENST00000335007.5	-	5	750	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	PPP1CC_ENST00000550991.1_Missense_Mutation_p.R187Q|PPP1CC_ENST00000340766.5_Missense_Mutation_p.R187Q|PPP1CC_ENST00000551676.1_Missense_Mutation_p.R187Q|PPP1CC_ENST00000546933.1_Missense_Mutation_p.R196Q	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	187					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|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)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						CATAATTCGCCGAATCTGCTC	0.393																																						.											0													78	74	76					12																	111160464		2203	4300	6503	SO:0001583	missense	5501				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9283	protein-coding gene	gene with protein product		176914	"protein phosphatase 1, catalytic subunit, gamma isoform"				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.560G>A	12.37:g.111160464C>T	ENSP00000335084:p.Arg187Gln			Missense_Mutation	SNP	ENST00000335007.5	37	CCDS9150.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563884	0.65651	.	.	ENSG00000186298	ENST00000335007;ENST00000340766;ENST00000550261;ENST00000551582;ENST00000553024;ENST00000546933;ENST00000550991;ENST00000551676	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.79	2.98	0.34508	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.045683	0.85682	D	0.000000	T	0.08758	0.0217	M	0.66439	2.03	0.49798	D	0.999826	B	0.23490	0.086	B	0.16722	0.016	T	0.06625	-1.0816	10	0.62326	D	0.03	-0.2296	9.7321	0.40368	0.0:0.7557:0.1166:0.1277	.	187	P36873	PP1G_HUMAN	Q	187;187;46;5;5;196;187;187	ENSP00000335084:R187Q;ENSP00000341779:R187Q;ENSP00000447122:R196Q;ENSP00000448981:R187Q;ENSP00000448437:R187Q	ENSP00000335084:R187Q	R	-	2	0	PPP1CC	109644847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.960000	0.70348	0.461000	0.27071	0.655000	0.94253	CGG		0.393	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1			T	111160464	C	T	111160464	3	4	54	1	0	0	0	0	1	0	0	0	12351	652	23	1	423	1	PPP1CC	12	111160464	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	34396883	111160464	22691431	93	5405											
UBC	7316	mdanderson.org	37	chr12	125397895	125397895	+	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	cggagcaccaggtgcagggtAgactctttctggatgttgta	8	11	14	8	1	2	1	0	0	2	1	2	3	2	3	1	4	2	5	1	4	2	4	rs199930220	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:125397895A>G	ENST00000538617.1	-	3	739	c.423T>C	c.(421-423)tcT>tcC	p.S141S	UBC_ENST00000339647.5_Silent_p.S141S|UBC_ENST00000536769.1_Silent_p.S141S|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	521	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)		GGTGCAGGGTAGACTCTTTCT	0.557													-|||	173	0.0345447	0.0439	0.013	5008	,	,		27341	0.002		0.0298	False		,,,				2504	0.0757					.											0													96	92	93					12																	125397895		2203	4290	6493	SO:0001819	synonymous_variant	7316				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.423T>C	12.37:g.125397895A>G			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37																																																																																					0.557	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		G	125397895	A	G	125397895	2	3	54	1	0	0	0	0	0	0	0	1	16839	407	15	2		2	UBC	12	125397895	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	14237431	125397895	8454000	94	5406											
PABPC3	5042	mdanderson.org	37	chr13	25670877	25670877	+	Missense_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	agtctcgtaaagaacgagaaGctgaacttggagctagggca	14	7	13	7	2	1	3	0	1	1	2	2	5	1	4	0	2	4	4	0	2	6	3	rs112107735	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:25670877G>A	ENST00000281589.3	+	1	578	c.541G>A	c.(541-543)Gct>Act	p.A181T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	181					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)		AGAACGAGAAGCTGAACTTGG	0.403													g|||	36	0.0071885	0.0151	0.0043	5008	,	,		22319	0.002		0.003	False		,,,				2504	0.0082					.											0													101	95	97					13																	25670877		2203	4300	6503	SO:0001583	missense	5042			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.541G>A	13.37:g.25670877G>A	ENSP00000281589:p.Ala181Thr		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133453	0.56828	.	.	ENSG00000151846	ENST00000281589	D	0.85629	-2.01	0.828	0.828	0.18841	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.46758	U	0.000272	T	0.80341	0.4605	M	0.69463	2.115	0.43275	D	0.995232	P	0.38335	0.627	B	0.37550	0.253	T	0.76849	-0.2807	10	0.51188	T	0.08	.	7.4633	0.27308	1.0E-4:0.0:0.9999:0.0	.	181	Q9H361	PABP3_HUMAN	T	181	ENSP00000281589:A181T	ENSP00000281589:A181T	A	+	1	0	PABPC3	24568877	1.000000	0.71417	0.873000	0.34254	0.379000	0.30106	4.761000	0.62243	0.748000	0.32831	0.305000	0.20034	GCT		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25670877	G	A	25670877	3	1	54	1	0	0	0	0	1	0	0	0	11365	971	34	4	543	4	PABPC3	13	25670877	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10		25670877	89499001	95	5407											
PABPC3	5042	mdanderson.org	37	chr13	25671786	25671786	+	Missense_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	ctaacacatcaacacagacaGtgggtccacgtcctgcagct	12	7	8	14	1	1	1	1	0	0	1	3	1	3	1	2	1	4	2	2	1	2	1	rs113301206	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:25671786G>A	ENST00000281589.3	+	1	1487	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	484					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)		AACACAGACAGTGGGTCCACG	0.537													g|||	617	0.123203	0.1876	0.1081	5008	,	,		22365	0.0655		0.0666	False		,,,				2504	0.1646					.											0													64	58	60					13																	25671786		2203	4300	6503	SO:0001583	missense	5042			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.1450G>A	13.37:g.25671786G>A	ENSP00000281589:p.Val484Met		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.651	0.121106	0.08881	.	.	ENSG00000151846	ENST00000281589	T	0.26957	1.7	0.875	-0.771	0.11002	.	0.098881	0.40908	N	0.000987	T	0.04363	0.0120	N	0.00197	-1.87	0.23421	N	0.997711	B	0.02656	0.0	B	0.09377	0.004	T	0.38243	-0.9670	10	0.30854	T	0.27	.	4.3022	0.10930	0.7031:0.0:0.2969:0.0	.	484	Q9H361	PABP3_HUMAN	M	484	ENSP00000281589:V484M	ENSP00000281589:V484M	V	+	1	0	PABPC3	24569786	0.402000	0.25311	0.468000	0.27192	0.114000	0.19823	0.521000	0.22893	-0.307000	0.08804	0.313000	0.20887	GTG		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671786	G	A	25671786	3	1	54	1	0	0	0	0	1	0	0	0	11365	1029	36	4	1452	4	PABPC3	13	25671786	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	909	25671786	89498092	96	5408											
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	chr13	49039350	49039359	+	Frame_Shift_Del	DEL	TTGTCACCAA	TTGTCACCAA	-																															ttttgctctagccccctaccTtgtcaccaatacctcacatt																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTGTCACCAA	TTGTCACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:49039350_49039359delTTGTCACCAA	ENST00000267163.4	+	23	2473_2482	c.2335_2344delTTGTCACCAA	c.(2335-2346)ttgtcaccaatafs	p.LSPI779fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCCCCCTACCTTGTCACCAATACCTCACAT	0.381		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)																												.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)																																								SO:0001589	frameshift_variant	5925	Familial Cancer Database		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.2335_2344delTTGTCACCAA	13.37:g.49039350_49039359delTTGTCACCAA	ENSP00000267163:p.Leu779fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49039359	TTGTCACCAA	-	49039350	7	5	54	1	0	1	0	1	0	0	0	0	13098	1606	56	0	2425	0	RB1	13	49039350	Frame_Shift_Del	DEL	TTGTCACCAA	TCGA-KO-8404-01A-11D-2310-10	23367564	49039350	66130528	97	5409	138	2									
RB1	5925	bcgsc.ca	37	chr13	49039351	49039360	+	Frame_Shift_Del	DEL	TTGTCACCAA	TTGTCACCAA	-																															tttgctctagccccctacctTgtcaccaatacctcacattc																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTGTCACCAA	TTGTCACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:49039351_49039360delTTGTCACCAA	ENST00000267163.4	+	23	2474_2483	c.2336_2345delTTGTCACCAA	c.(2335-2346)tttgtcaccaaafs	p.FVTK779fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCCCCTACCTTGTCACCAATACCTCACATT	0.381		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)																												.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)																																								SO:0001589	frameshift_variant	5925	Familial Cancer Database		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.2336_2345delTTGTCACCAA	13.37:g.49039351_49039360delTTGTCACCAA	ENSP00000267163:p.Phe779fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49039360	TTGTCACCAA	-	49039351	7	5	54	1	0	1	0	1	0	0	0	0	13098	1821	63	0	2426	0	RB1	13	49039351	Frame_Shift_Del	DEL	TTGTCACCAA	TCGA-KO-8404-01A-11D-2310-10	1	49039351	66130527	98	5410	138	2									
HOMEZ	57594	mdanderson.org	37	chr14	23744844	23744844	+	Silent	SNP	C	C	T																															tcttcctcctcctcctcctcCtcttcctcatcatcttctgg																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:23744844C>T	ENST00000357460.5	-	2	1757	c.1593G>A	c.(1591-1593)gaG>gaA	p.E531E	HOMEZ_ENST00000561013.1_Silent_p.E533E|HOMEZ_ENST00000431326.2_Silent_p.E533E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	531	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		cctcctcctcctcttcctcat	0.493																																						.											0													37	36	36					14																	23744844		2196	4286	6482	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1593G>A	14.37:g.23744844C>T			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																				0.493	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744844	C	T	23744844	2	4	54	1	0	0	0	0	0	0	0	1	7281	680	24	4		4	HOMEZ	14	23744844	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10		23744844	83604696	99	5411	139	2									
HOMEZ	57594	mdanderson.org	37	chr14	23744847	23744847	+	Silent	SNP	T	T	C																															tcctcctcctcctcctcctcTtcctcatcatcttctggcag																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:23744847T>C	ENST00000357460.5	-	2	1754	c.1590A>G	c.(1588-1590)gaA>gaG	p.E530E	HOMEZ_ENST00000561013.1_Silent_p.E532E|HOMEZ_ENST00000431326.2_Silent_p.E532E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	530	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		cctcctcctcttcctcatcat	0.488																																						.											0													37	36	36					14																	23744847		2196	4291	6487	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1590A>G	14.37:g.23744847T>C			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																				0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		C	23744847	T	C	23744847	2	2	54	1	0	0	0	0	0	0	0	1	7281	1606	56	2		2	HOMEZ	14	23744847	Silent	SNP	T	TCGA-KO-8404-01A-11D-2310-10	3	23744847	83604693	100	5412	139	2									
KLHDC2	23588	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	50244621	50244621	+	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	ggaaagaattgattgccaagGaattcctccatcatcaaagg	15	9	9	8	0	2	2	2	1	0	1	4	4	4	4	3	3	1	0	3	3	5	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:50244621G>A	ENST00000298307.5	+	4	1277	c.416G>A	c.(415-417)gGa>gAa	p.G139E	KLHDC2_ENST00000554589.1_Missense_Mutation_p.G139E|KLHDC2_ENST00000557247.1_Missense_Mutation_p.G139E|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	139						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)					GATTGCCAAGGAATTCCTCCA	0.388																																						.											0													128	121	123					14																	50244621		2203	4300	6503	SO:0001583	missense	23588			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.416G>A	14.37:g.50244621G>A	ENSP00000298307:p.Gly139Glu		B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166146	0.94768	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.68765	-0.35;-0.35;-0.35	5.74	5.74	0.90152	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;0.998	D	0.85024	0.0913	10	0.87932	D	0	-18.9077	18.9112	0.92485	0.0:0.0:1.0:0.0	.	139;139;139	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	E	139	ENSP00000298307:G139E;ENSP00000451439:G139E;ENSP00000450658:G139E	ENSP00000298307:G139E	G	+	2	0	KLHDC2	49314371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.717000	0.92951	0.655000	0.94253	GGA		0.388	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			A	50244621	G	A	50244621	3	1	54	1	0	0	0	0	1	0	0	0	8356	1174	41	3	430	3	KLHDC2	14	50244621	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	26499774	50244621	57104919	101	5413											
ADAM21	8747	mdanderson.org	37	chr14	70924613	70924613	+	Nonsense_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	gtgcttgttttgggggctttCgaggagtattaaaaataagt	10	15	13	3	1	0	0	0	0	0	0	1	2	0	1	0	3	1	4	0	3	5	7	rs138262361	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:70924613C>T	ENST00000603540.1	+	2	655	c.397C>T	c.(397-399)Cga>Tga	p.R133*	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Nonsense_Mutation_p.R133*	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	133					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)		TGGGGGCTTTCGAGGAGTATT	0.448																																						.											0													74	86	82					14																	70924613		2202	4300	6502	SO:0001587	stop_gained	8747			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.397C>T	14.37:g.70924613C>T	ENSP00000474385:p.Arg133*		O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034843	0.19590	.	.	ENSG00000139985	ENST00000267499	.	.	.	3.76	3.76	0.43208	.	0.682149	0.11938	U	0.515009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.162	0.54109	0.1717:0.8283:0.0:0.0	.	.	.	.	X	133	.	ENSP00000267499:R133X	R	+	1	2	ADAM21	69994366	0.003000	0.15002	0.322000	0.25334	0.071000	0.16799	1.122000	0.31295	2.090000	0.63153	0.557000	0.71058	CGA		0.448	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70924613	C	T	70924613	4	4	54	1	0	0	0	0	0	1	0	0	243	876	31	1	399	1	ADAM21	14	70924613	Nonsense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	20679992	70924613	36424927	102	5414											
AHNAK2	113146	mdanderson.org	37	chr14	105416323	105416323	+	Missense_Mutation	SNP	T	T	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	tgaacttgggcattttgaacTtgctgtctttggcagtcaca	8	15	10	8	0	2	2	1	2	1	0	2	2	2	2	0	2	3	3	0	2	2	5	rs11847209	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:105416323T>C	ENST00000333244.5	-	7	5584	c.5465A>G	c.(5464-5466)aAg>aGg	p.K1822R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1822						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)			CATTTTGAACTTGCTGTCTTT	0.617																																						.											0													178	215	203					14																	105416323		1930	4091	6021	SO:0001583	missense	113146			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.5465A>G	14.37:g.105416323T>C	ENSP00000353114:p.Lys1822Arg		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	33	0.01510989010989011	10	0.02032520325203252	6	0.016574585635359115	9	0.015734265734265736	8	0.010554089709762533	t	20.2	3.943625	0.73672	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	4.52	4.52	0.55395	.	.	.	.	.	T	0.02533	0.0077	H	0.94808	3.585	0.24253	N	0.995314	D	0.56521	0.976	P	0.56398	0.797	T	0.18745	-1.0327	9	0.44086	T	0.13	-26.778	9.1058	0.36696	0.0:0.0891:0.0:0.9109	rs11847209	1822	Q8IVF2	AHNK2_HUMAN	R	1822	ENSP00000353114:K1822R	ENSP00000353114:K1822R	K	-	2	0	AHNAK2	104487368	0.990000	0.36364	1.000000	0.80357	0.760000	0.43138	3.218000	0.51192	1.695000	0.51148	0.374000	0.22700	AAG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416323	T	C	105416323	3	2	54	1	0	0	0	0	1	0	0	0	415	1609	56	2	11926	2	AHNAK2	14	105416323	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10	34491710	105416323	1933217	103	5415											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30659650	30659651	+	Frame_Shift_Ins	INS	-	-	G																															atcttgcccccgtcggggtcINSgtggtggtggtactgcagca																								rs371263130|rs368423557		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr15:30659650_30659651insG	ENST00000299847.2	-	9	1143_1144	c.690_691insC	c.(688-693)cacgacfs	p.D231fs	CHRFAM7A_ENST00000401522.3_Frame_Shift_Ins_p.D140fs|CHRFAM7A_ENST00000397827.3_Frame_Shift_Ins_p.D140fs	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	231						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCGTCGGGGTCGTGGTGGTGGT	0.599																																						.											0																																										SO:0001589	frameshift_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.691dupC	15.37:g.30659651_30659651dupG	ENSP00000299847:p.Asp231fs		A8KAB9	Frame_Shift_Ins	INS	ENST00000299847.2	37	CCDS32184.1																																																																																				0.599	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		G	30659651	-	G	30659650	7	5	54	1	0	1	1	0	0	0	0	0	3375	884	31	0	555	0	CHRFAM7A	15	30659650	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10		30659650	71871742	104	5416											
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr15	68624721	68624721	+	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	ttgcctcgctcacggccctcGttgaagtacatgggtgcgcc	5	10	12	14	4	1	1	1	1	0	0	3	1	1	1	3	2	3	3	3	2	2	3	rs373616131		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr15:68624721G>A	ENST00000315757.7	-	13	1607	c.1521C>T	c.(1519-1521)aaC>aaT	p.N507N	ITGA11_ENST00000423218.2_Silent_p.N507N	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	507					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						CACGGCCCTCGTTGAAGTACA	0.597																																						.											0								G		0,4252		0,0,2126	38	40	39		1521	1	1	15		39	1,8453		0,1,4226	no	coding-synonymous	ITGA11	NM_001004439.1		0,1,6352	AA,AG,GG		0.0118,0.0,0.0079		507/1189	68624721	1,12705	2126	4227	6353	SO:0001819	synonymous_variant	22801			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.1521C>T	15.37:g.68624721G>A			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.597	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		A	68624721	G	A	68624721	2	1	54	1	0	0	0	0	0	0	0	1	7874	1136	40	1		1	ITGA11	15	68624721	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	37965071	68624721	33906671	105	5417											
CACNA1H	8912	ucsc.edu	37	chr16	1250559	1250559	+	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	aacatcggctacgcctggatTgccatcttccaggtgggcgg	7	9	13	12	3	1	0	0	0	1	0	3	1	2	1	3	5	3	1	3	5	2	3	rs8044363	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:1250559T>C	ENST00000348261.5	+	7	1355	c.1107T>C	c.(1105-1107)atT>atC	p.I369I	CACNA1H_ENST00000565831.1_Silent_p.I369I|CACNA1H_ENST00000358590.4_Silent_p.I369I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	369					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)	ACGCCTGGATTGCCATCTTCC	0.657													t|||	1666	0.332668	0.4902	0.3026	5008	,	,		14574	0.1022		0.4095	False		,,,				2504	0.2996					.											0			GRCh37	CM071580	CACNA1H	M	rs8044363	C	,	1908,2232		449,1010,611	47	51	49		1107,1107	-6.3	0.9	16	dbSNP_116	49	3581,4807		808,1965,1421	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	1257,2975,2032	CC,CT,TT		42.6919,46.087,43.8139	,	369/2348,369/2354	1250559	5489,7039	2070	4194	6264	SO:0001819	synonymous_variant	8912			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.1107T>C	16.37:g.1250559T>C			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		C	1250559	T	C	1250559	2	2	54	1	0	0	0	0	0	0	0	1	2545	1800	63	4		4	CACNA1H	16	1250559	Silent	SNP	T	TCGA-KO-8404-01A-11D-2310-10		1250559	89104194	106	5418											
C16orf59	80178	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	2512477	2512477	+	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	ggcggaggcggggcgcctgcGgaaggcctgctcgctgctga	4	5	20	12	5	0	1	0	1	0	0	1	3	0	3	2	7	3	3	2	7	1	0			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:2512477G>A	ENST00000361837.4	+	7	877	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	C16orf59_ENST00000563531.1_Missense_Mutation_p.R271Q|C16orf59_ENST00000569496.1_Missense_Mutation_p.R271Q|C16orf59_ENST00000483320.1_Missense_Mutation_p.R104Q|RP11-715J22.4_ENST00000566085.1_lincRNA|RP11-715J22.2_ENST00000563775.1_RNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	271										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGGCGCCTGCGGAAGGCCTGC	0.662																																						.											0													20	25	23					16																	2512477		2069	4199	6268	SO:0001583	missense	80178			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.812G>A	16.37:g.2512477G>A	ENSP00000355022:p.Arg271Gln		B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	8.289	0.817204	0.16607	.	.	ENSG00000162062	ENST00000361837	T	0.39592	1.07	4.52	-7.58	0.01313	.	1.914720	0.02825	N	0.126017	T	0.21347	0.0514	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.20887	0.049;0.002;0.002;0.002	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.13255	-1.0516	10	0.25751	T	0.34	-0.2455	14.8491	0.70284	0.7674:0.0:0.2326:0.0	.	104;271;104;104	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	Q	271	ENSP00000355022:R271Q	ENSP00000355022:R271Q	R	+	2	0	C16orf59	2452478	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.265000	0.08644	-1.645000	0.01515	-0.302000	0.09304	CGG		0.662	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		A	2512477	G	A	2512477	3	1	54	1	0	0	0	0	1	0	0	0	1823	1116	39	1	838	1	C16orf59	16	2512477	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1261918	2512477	87842276	107	5419											
ADCY9	115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	4029168	4029168	+	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	tgggagtagacggccagtgcGggaagcgacaccaggatggc	10	4	18	9	3	0	1	0	0	0	1	0	5	0	4	2	5	2	1	2	5	2	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:4029168G>A	ENST00000294016.3	-	8	3166	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	876					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCAGTGCGGGAAGCGACA	0.582																																						.											0													128	121	124					16																	4029168		2197	4300	6497	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2628C>T	16.37:g.4029168G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4029168	G	A	4029168	2	1	54	1	0	0	0	0	0	0	0	1	301	1103	39	1		1	ADCY9	16	4029168	Silent	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1516691	4029168	86325585	108	5420											
ACSM2A	123876	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr16	20497990	20497990	+	Missense_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	gaagatgtccggaaaagcccGtgcgcagtgagacatctaag	13	6	13	9	3	1	2	0	1	1	2	2	5	2	3	2	1	2	1	2	1	4	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:20497990G>A	ENST00000573854.1	+	14	1838	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ACSM2A_ENST00000575690.1_Missense_Mutation_p.R575H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R575H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R496H|AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R347H|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R575H	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	575					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						GGAAAAGCCCGTGCGCAGTGA	0.463																																						.											0													187	176	180					16																	20497990		2203	4300	6503	SO:0001583	missense	123876			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.1724G>A	16.37:g.20497990G>A	ENSP00000459451:p.Arg575His		B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127180	0.20959	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.48836	0.8;0.82;1.34;0.82	2.88	-4.8	0.03190	.	.	.	.	.	T	0.25382	0.0617	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.16276	-1.0408	9	0.49607	T	0.09	-0.2477	12.1986	0.54311	0.8314:0.0:0.1686:0.0	.	575	Q08AH3	ACS2A_HUMAN	H	496;575;347;575	ENSP00000392169:R496H;ENSP00000219054:R575H;ENSP00000445082:R347H;ENSP00000379411:R575H	ENSP00000219054:R575H	R	+	2	0	ACSM2A	20405491	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.368000	0.02580	-1.196000	0.02676	-0.667000	0.03836	CGT		0.463	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		A	20497990	G	A	20497990	3	1	54	1	0	0	0	0	1	0	0	0	183	1145	40	1	1774	1	ACSM2A	16	20497990	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	16468822	20497990	69856763	109	5421											
CYLD	1540	broad.mit.edu;mdanderson.org	37	chr16	50825539	50825539	+	Missense_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	aaaaaaatgagaaagttggcGttcccacaattcagcagttg	16	9	9	7	1	1	1	1	1	0	1	2	2	2	1	1	1	1	4	1	1	5	4			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:50825539G>A	ENST00000427738.3	+	14	2384	c.2179G>A	c.(2179-2181)Gtt>Att	p.V727I	CYLD_ENST00000569418.1_Missense_Mutation_p.V724I|CYLD_ENST00000568704.2_Missense_Mutation_p.V542I|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.V724I|CYLD_ENST00000398568.2_Missense_Mutation_p.V724I|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.V724I|CYLD_ENST00000540145.1_Missense_Mutation_p.V727I|CYLD_ENST00000311559.9_Missense_Mutation_p.V727I			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	727	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAAAGTTGGCGTTCCCACAAT	0.343			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													.	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													100	95	97					16																	50825539		1821	4072	5893	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2179G>A	16.37:g.50825539G>A	ENSP00000392025:p.Val727Ile		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384758	0.61956	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.73152	-0.72;-0.72;-0.72	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.59436	1.845	0.80722	D	1	B;B	0.28470	0.213;0.178	B;B	0.23018	0.043;0.017	T	0.63242	-0.6681	10	0.38643	T	0.18	-24.6854	12.6285	0.56644	0.0756:0.0:0.9244:0.0	.	724;724	A8KAB0;Q9NQC7-2	.;.	I	727;727;724;724	ENSP00000445447:V727I;ENSP00000308928:V727I;ENSP00000381574:V724I	ENSP00000308928:V727I	V	+	1	0	CYLD	49383040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.562000	0.86427	0.650000	0.86243	GTT		0.343	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			A	50825539	G	A	50825539	3	1	54	1	0	0	0	0	1	0	0	0	4143	1145	40	1	2229	1	CYLD	16	50825539	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	30327549	50825539	39529214	110	5422											
MLYCD	23417	broad.mit.edu;hgsc.bcm.edu	37	chr16	83941751	83941752	+	Frame_Shift_Ins	INS	-	-	A																															gctgaggctgtgcatcctgtINSaaaaaactggatggacatga																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:83941751_83941752insA	ENST00000262430.4	+	3	681_682	c.662_663insA	c.(661-666)gtaaaafs	p.VK221fs	RP11-505K9.4_ENST00000566309.1_5'Flank|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	221	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						GTGCATCCTGTAAAAAACTGGA	0.5																																						.											0																																										SO:0001589	frameshift_variant	23417			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.668dupA	16.37:g.83941757_83941757dupA	ENSP00000262430:p.Val221fs		Q9UNU5|Q9Y3F2	Frame_Shift_Ins	INS	ENST00000262430.4	37	CCDS42206.1																																																																																				0.5	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		A	83941752	-	A	83941751	7	5	54	1	0	1	1	0	0	0	0	0	9638	1638	57	0	672	0	MLYCD	16	83941751	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	33116212	83941751	6413002	111	5423	140	2									
MLYCD	23417	bcgsc.ca	37	chr16	83941752	83941753	+	Frame_Shift_Ins	INS	-	-	A																															ctgaggctgtgcatcctgtaINSaaaaactggatggacatgaa																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:83941752_83941753insA	ENST00000262430.4	+	3	682_683	c.663_664insA	c.(664-666)aaafs	p.K222fs	RP11-505K9.4_ENST00000566309.1_5'Flank|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	222	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						TGCATCCTGTAAAAAACTGGAT	0.5																																						.											0																																										SO:0001589	frameshift_variant	23417			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.668dupA	16.37:g.83941757_83941757dupA	ENSP00000262430:p.Lys222fs		Q9UNU5|Q9Y3F2	Frame_Shift_Ins	INS	ENST00000262430.4	37	CCDS42206.1																																																																																				0.5	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		A	83941753	-	A	83941752	7	5	54	1	0	1	1	0	0	0	0	0	9638	349	13	0	673	0	MLYCD	16	83941752	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	1	83941752	6413001	112	5424	140	2									
ZNF232	7775	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	5012951	5012951	+	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	ggagatgcctgaagcgttggCggaagatctcttgactggta	9	10	15	7	2	1	4	0	2	1	2	2	6	1	5	1	4	2	2	1	4	3	3	rs550026345		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:5012951C>T	ENST00000250076.3	-	3	890	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ZNF232_ENST00000575538.1_Intron|AC012146.7_ENST00000413077.1_RNA|ZNF232_ENST00000416429.2_Missense_Mutation_p.R52H|ZNF232_ENST00000575898.1_Missense_Mutation_p.R79H|AC012146.7_ENST00000571138.1_RNA	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	52	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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GAAGCGTTGGCGGAAGATCTC	0.542													C|||	1	0.000199681	0	0	5008	,	,		19148	0		0	False		,,,				2504	0.001					.											0													167	136	146					17																	5012951		2203	4300	6503	SO:0001583	missense	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.236G>A	17.37:g.5012951C>T	ENSP00000250076:p.Arg79His			Missense_Mutation	SNP	ENST00000250076.3	37	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575421	0.45902	.	.	ENSG00000167840	ENST00000250076;ENST00000416429	T;T	0.07444	3.19;3.19	3.0	-0.0854	0.13686	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.257236	0.20735	N	0.086644	T	0.17704	0.0425	M	0.73430	2.235	0.23254	N	0.998034	P;D;B;B	0.60160	0.903;0.987;0.12;0.098	P;P;B;B	0.58820	0.545;0.846;0.018;0.015	T	0.04307	-1.0961	10	0.59425	D	0.04	.	5.2561	0.15548	0.0:0.5949:0.0:0.4051	.	79;52;52;52	B4DNA7;B4DP49;Q9UNY5;Q9UNY5-2	.;.;ZN232_HUMAN;.	H	79;52	ENSP00000250076:R79H;ENSP00000416430:R52H	ENSP00000250076:R79H	R	-	2	0	ZNF232	4953675	0.004000	0.15560	0.932000	0.37286	0.973000	0.67179	0.096000	0.15147	0.022000	0.15160	0.561000	0.74099	CGC		0.542	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		T	5012951	C	T	5012951	3	4	54	1	0	0	0	0	1	0	0	0	17782	768	27	1	1110	1	ZNF232	17	5012951	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		5012951	76182259	113	5425											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	7577609	7577609	+	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	gtggtacagtcagagccaacCtaggagataacacaggccca	14	5	11	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	4	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:7577609C>T	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAGAGCCAACCTAGGAGATAA	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	GRCh37	CS011061	TP53	S							89	75	80					17																	7577609		2203	4300	6503	SO:0001630	splice_region_variant	7157	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;	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.673-1G>A	17.37:g.7577609C>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808655	0.70797	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7577609	C	T	7577609	5	4	54	1	0	0	0	0	0	0	1	0	16378	695	24	4	618	4	TP53	17	7577609	Splice_Site	SNP	C	TCGA-KO-8404-01A-11D-2310-10	2564658	7577609	73617601	114	5426											
RAI1	10743	broad.mit.edu	37	chr17	17700804	17700805	+	Frame_Shift_Ins	INS	-	-	C																															cccagcccccggagggcaggINSccctgccagccccagacaag																								rs148698066		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:17700804_17700805insC	ENST00000353383.1	+	3	5011_5012	c.4542_4543insC	c.(4543-4545)cccfs	p.P1515fs	RAI1_ENST00000261641.6_Frame_Shift_Ins_p.P1515fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1515					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)	p.P1515S(1)|p.P1515F(1)		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)		CGGAGGGCAGGCCCTGCCAGCC	0.649																																						.											2	Substitution - Missense(2)	skin(2)																																								SO:0001589	frameshift_variant	10743			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.4545dupC	17.37:g.17700807_17700807dupC	ENSP00000323074:p.Pro1515fs		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Ins	INS	ENST00000353383.1	37	CCDS11188.1																																																																																				0.649	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		C	17700805	-	C	17700804	7	5	54	1	0	1	1	0	0	0	0	0	13007	1194	42	0	4544	0	RAI1	17	17700804	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	10123195	17700804	63494406	115	5427											
LGALS9C	654346	broad.mit.edu	37	chr17	18387252	18387252	+	Frame_Shift_Del	DEL	G	G	-																															gatttcagatcactgtcaatGgggccgttctcagctgcagt																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:18387252delG	ENST00000328114.6	+	2	184	c.103delG	c.(103-105)gggfs	p.G35fs	LGALS9C_ENST00000584941.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000581545.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000583322.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000578983.1_3'UTR	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	35	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CACTGTCAATGGGGCCGTTCT	0.567																																						.											0													160	109	127					17																	18387252		2132	3739	5871	SO:0001589	frameshift_variant	654346				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"Lectins, galactoside-binding"	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.103delG	17.37:g.18387252delG	ENSP00000329932:p.Gly35fs		B0AZM7	Frame_Shift_Del	DEL	ENST00000328114.6	37	CCDS32587.1																																																																																				0.567	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		-	18387252	G	-	18387252	7	5	54	1	0	1	0	1	0	0	0	0	8750	1348	47	0	109	0	LGALS9C	17	18387252	Frame_Shift_Del	DEL	G	TCGA-KO-8404-01A-11D-2310-10	686448	18387252	62807958	116	5428											
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-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	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																																						.											0													7	10	9					17																	39254149		651	1515	2166	SO:0001583	missense	728224			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		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	54	1	0	0	0	0	1	0	0	0	8556	1261	44	5	373	5	KRTAP4-8	17	39254149	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	20866897	39254149	41941061	117	5429											
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-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:45234325G>A	ENST00000066544.3	-	7	889	c.796C>T	c.(796-798)Cga>Tga	p.R266*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.R205*|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																																						.											0													60	65	63					17																	45234325		2200	4295	6495	SO:0001587	stop_gained	996			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*		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	54	1	0	0	0	0	0	1	0	0	3066	1066	37	1	1748	1	CDC27	17	45234325	Nonsense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	5980176	45234325	35960885	118	5430											
CDC27	996	mdanderson.org	37	chr17	45234625	45234625	+	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	ctggggtgtttccgtaagaaCtgtctcaggctgtctgtgag	6	13	14	8	1	2	2	1	1	2	1	4	2	3	2	1	3	1	3	1	3	2	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					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)	p.V201I(2)		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						TCCGTAAGAACTGTCTCAGGC	0.338																																						.											2	Substitution - Missense(2)	kidney(2)											58	59	59					17																	45234625		2203	4300	6503	SO:0001583	missense	996			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.601G>A	17.37:g.45234625C>T	ENSP00000066544:p.Val201Ile		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164668	0.38217	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.23;0.02;-0.25;0.85	5.11	5.11	0.69529	.	0.065071	0.64402	D	0.000010	T	0.52805	0.1757	N	0.24115	0.695	0.53688	D	0.999973	B;B;B;B	0.22211	0.031;0.053;0.066;0.031	B;B;B;B	0.20577	0.024;0.022;0.03;0.01	T	0.47923	-0.9079	10	0.22109	T	0.4	-10.941	16.0383	0.80645	0.0:1.0:0.0:0.0	.	140;201;201;201	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	201;201;140;201;201	ENSP00000066544:V201I;ENSP00000434614:V201I;ENSP00000392802:V140I;ENSP00000437339:V201I;ENSP00000432105:V201I	ENSP00000066544:V201I	V	-	1	0	CDC27	42589624	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.951000	0.75983	2.391000	0.81399	0.557000	0.71058	GTT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234625	C	T	45234625	3	4	54	1	0	0	0	0	1	0	0	0	3066	565	20	4	1947	4	CDC27	17	45234625	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	300	45234625	35960585	119	5431											
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	71375627	71375627	+	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	tcctgcggggggctggagggCccctcacccacagcgttgta	5	7	15	14	2	1	0	1	0	0	0	2	1	2	1	4	5	2	3	4	5	1	2			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:71375627C>A	ENST00000392650.3	-	35	4824	c.4824G>T	c.(4822-4824)ggG>ggT	p.G1608G	SDK2_ENST00000388726.3_Silent_p.G1589G	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1608	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCTGGAGGGCCCCTCACCCA	0.662																																						.											0													56	48	51					17																	71375627		2203	4299	6502	SO:0001819	synonymous_variant	54549			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.4824G>T	17.37:g.71375627C>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1																																																																																				0.662	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71375627	C	A	71375627	2	1	54	1	0	0	0	0	0	0	0	1	13969	726	26	5		5	SDK2	17	71375627	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	26141002	71375627	9819583	120	5432											
NPTX1	4884	broad.mit.edu	37	chr17	78449424	78449425	+	Frame_Shift_Ins	INS	-	-	G																															ctcctccagggtgttcacccINSgggacagcacctgcctctcc																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:78449424_78449425insG	ENST00000306773.4	-	2	695_696	c.538_539insC	c.(538-540)cggfs	p.R180fs	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	180					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GGTGTTCACCCGGGACAGCACC	0.639																																						.											0																																										SO:0001589	frameshift_variant	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.539dupC	17.37:g.78449427_78449427dupG	ENSP00000307549:p.Arg180fs		B3KXH3|Q5FWE6	Frame_Shift_Ins	INS	ENST00000306773.4	37	CCDS32762.1																																																																																				0.639	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			G	78449425	-	G	78449424	7	5	54	1	0	1	1	0	0	0	0	0	10602	652	23	0	775	0	NPTX1	17	78449424	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	7073797	78449424	2745786	121	5433											
MADCAM1	8174	mdanderson.org	37	chr19	501714	501714	+	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	gcctcccgacaccacctcccCggagtctcccgacaccacct	7	5	6	23	3	1	0	0	0	1	0	4	3	3	1	9	1	0	0	9	1	0	0	rs78071082	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:501714C>A	ENST00000215637.3	+	4	759	c.713C>A	c.(712-714)cCg>cAg	p.P238Q	MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P19Q	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	238	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCCGGAGTCTCCC	0.667																																						.											0													27	42	37					19																	501714		2202	4299	6501	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.713C>A	19.37:g.501714C>A	ENSP00000215637:p.Pro238Gln		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	9.846	1.192318	0.21954	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.11495	2.77	3.69	-3.39	0.04868	.	.	.	.	.	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.45078	0.85	B	0.40134	0.32	T	0.23084	-1.0198	9	0.34782	T	0.22	.	1.1525	0.01789	0.1428:0.3186:0.2805:0.2581	.	238	Q13477	MADCA_HUMAN	Q	262;254;246;238	ENSP00000215637:P238Q	ENSP00000215637:P238Q	P	+	2	0	MADCAM1	452714	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.794000	0.04584	-0.567000	0.06046	-0.145000	0.13849	CCG		0.667	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	501714	C	A	501714	3	1	54	1	0	0	0	0	1	0	0	0	9151	652	23	5	727	5	MADCAM1	19	501714	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		501714	58627269	122	5434											
C3	718	broad.mit.edu	37	chr19	6679165	6679166	+	Frame_Shift_Ins	INS	-	-	C																															tcctggctcacaggccttgtINSccagccgttcttccagggtg																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:6679165_6679166insC	ENST00000245907.6	-	38	4692_4693	c.4600_4601insG	c.(4600-4602)gacfs	p.D1534fs	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1534	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACAGGCCTTGTCCAGCCGTTCT	0.55																																						.											0																																										SO:0001589	frameshift_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4601dupG	19.37:g.6679167_6679167dupC	ENSP00000245907:p.Asp1534fs		A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	CCDS32883.1																																																																																				0.55	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		C	6679166	-	C	6679165	7	5	54	1	0	1	1	0	0	0	0	0	2204	1667	58	0	406	0	C3	19	6679165	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	6177451	6679165	52449818	123	5435											
PODNL1	79883	broad.mit.edu	37	chr19	14044085	14044087	+	In_Frame_Del	DEL	CCC	CCC	-																															ccggcgggcagccctgagctCcccagctggttgtgctgcag																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:14044085_14044087delCCC	ENST00000339560.5	-	8	1243_1245	c.970_972delGGG	c.(970-972)gggdel	p.G324del	PODNL1_ENST00000254320.3_In_Frame_Del_p.G242del|PODNL1_ENST00000538371.2_In_Frame_Del_p.G322del|PODNL1_ENST00000538517.2_In_Frame_Del_p.G233del	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	324	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)			GCCCTGAGCTCCCCAGCTGGTTG	0.714																																						.											0									,,	8,3936		1,6,1965					,,	-9.3	0			6	17,7683		8,1,3841	no	coding,coding,coding	PODNL1	NM_024825.3,NM_001146255.1,NM_001146254.1	,,	9,7,5806	A1A1,A1R,RR		0.2208,0.2028,0.2147	,,	,,		25,11619				SO:0001651	inframe_deletion	79883			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.970_972delGGG	19.37:g.14044085_14044087delCCC	ENSP00000345175:p.Gly324del		B7Z564|Q9H5G9	In_Frame_Del	DEL	ENST00000339560.5	37	CCDS12300.1																																																																																				0.714	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		-	14044087	CCC	-	14044085	7	5	54	1	0	1	0	1	0	0	0	0	12179	842	30	0	570	0	PODNL1	19	14044085	In_Frame_Del	DEL	CCC	TCGA-KO-8404-01A-11D-2310-10	7364920	14044085	45084898	124	5436											
GTPBP3	84705	mdanderson.org	37	chr19	17448961	17448961	+	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	cacgccctccgaattctcacAgcaccccgagacctgcccct	8	6	6	21	3	1	1	1	0	1	1	3	3	2	1	7	0	2	1	7	0	1	1	rs1864112	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:17448961A>C	ENST00000324894.8	+	2	266	c.198A>C	c.(196-198)acA>acC	p.T66T	GTPBP3_ENST00000600625.1_Silent_p.T66T|GTPBP3_ENST00000358792.7_Silent_p.T66T|GTPBP3_ENST00000361619.5_Silent_p.T88T|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	66					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						GAATTCTCACAGCACCCCGAG	0.711													G|||	3123	0.623602	0.8669	0.4885	5008	,	,		13513	0.2956		0.7217	False		,,,				2504	0.6278					.											0								G	,,,	3732,640		1602,528,56	12	15	14		198,264,198,198	-3.6	0.6	19	dbSNP_92	14	6056,2504		2166,1724,390	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GTPBP3	NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3	,,,	3768,2252,446	CC,CA,AA		29.2523,14.6386,24.3118	,,,	66/472,88/515,66/493,66/525	17448961	9788,3144	2186	4280	6466	SO:0001819	synonymous_variant	84705			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.198A>C	19.37:g.17448961A>C			A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	CCDS32951.1																																																																																				0.711	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		C	17448961	A	C	17448961	2	2	54	1	0	0	0	0	0	0	0	1	6881	175	7	5		5	GTPBP3	19	17448961	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	3404876	17448961	41680022	125	5437											
RPL18A	6142	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	17972198	17972198	+	Missense_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	tctttgcgcctaatcatgtcGtcgccaagtcccgcttctgg	5	13	9	14	4	3	0	1	0	2	0	6	0	4	0	3	1	1	1	3	1	2	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:17972198G>A	ENST00000222247.5	+	2	196	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Missense_Mutation_p.V10I|RPL18A_ENST00000600147.1_Missense_Mutation_p.V39I|RPL18A_ENST00000599898.1_Intron	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	39					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						TAATCATGTCGTCGCCAAGTC	0.552																																						.											0													40	39	39					19																	17972198		2202	4279	6481	SO:0001583	missense	6142			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.115G>A	19.37:g.17972198G>A	ENSP00000222247:p.Val39Ile			Missense_Mutation	SNP	ENST00000222247.5	37	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851096	0.32699	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.11	4.11	0.48088	Ribosomal protein L18a/LX (1);	0.000000	0.64402	U	0.000001	T	0.50000	0.1590	L	0.51422	1.61	0.80722	D	1	B	0.31519	0.327	B	0.27380	0.079	T	0.52801	-0.8527	9	0.38643	T	0.18	.	14.229	0.65879	0.0:0.0:1.0:0.0	.	39	Q02543	RL18A_HUMAN	I	39	.	ENSP00000222247:V39I	V	+	1	0	RPL18A	17833198	1.000000	0.71417	0.139000	0.22197	0.018000	0.09664	9.533000	0.98059	2.019000	0.59389	0.563000	0.77884	GTC		0.552	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		A	17972198	G	A	17972198	3	1	54	1	0	0	0	0	1	0	0	0	13565	1145	40	1	121	1	RPL18A	19	17972198	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	523237	17972198	41156785	126	5438											
LRRC25	126364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	18507174	18507174	+	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	gcagcccagggtttgttcagCtcccggcttctggccactcg	4	10	12	15	2	2	0	1	0	1	0	4	0	3	0	3	3	2	5	3	3	0	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:18507174C>T	ENST00000339007.3	-	1	1253	c.600G>A	c.(598-600)gaG>gaA	p.E200E	LRRC25_ENST00000595840.1_Silent_p.E200E	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	200						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTTGTTCAGCTCCCGGCTTC	0.677																																						.											0													22	25	24					19																	18507174		2202	4300	6502	SO:0001819	synonymous_variant	126364			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.600G>A	19.37:g.18507174C>T			Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	37	CCDS12377.1																																																																																				0.677	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		T	18507174	C	T	18507174	2	4	54	1	0	0	0	0	0	0	0	1	8980	796	28	4		4	LRRC25	19	18507174	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	534976	18507174	40621809	127	5439											
ZNF626	199777	mdanderson.org	37	chr19	20807270	20807270	+	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	tctccagtatgaattttcttAtgtgtagtaaggttagagga	11	16	10	4	0	2	2	0	1	2	1	3	3	2	3	1	2	0	4	1	2	6	7	rs547337333	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:20807270A>G	ENST00000601440.1	-	4	1559	c.1413T>C	c.(1411-1413)caT>caC	p.H471H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	471					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)|lung(3)|skin(1)	6						GAATTTTCTTATGTGTAGTAA	0.388													a|||	3193	0.63758	0.3517	0.7767	5008	,	,		9279	0.7411		0.8082	False		,,,				2504	0.6431					.											0													37	18	24					19																	20807270		1869	3648	5517	SO:0001819	synonymous_variant	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1413T>C	19.37:g.20807270A>G			Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	CCDS42535.1																																																																																				0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		G	20807270	A	G	20807270	2	3	54	1	0	0	0	0	0	0	0	1	18047	446	16	4		4	ZNF626	19	20807270	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	2300096	20807270	38321713	128	5440											
UQCRFS1	7386	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	29698692	29698692	+	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	tctagatcatgctgtgggtcCctcaactgtgataattcaac	10	13	8	10	0	4	2	3	1	1	1	5	2	5	2	1	1	3	1	1	1	4	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:29698692C>G	ENST00000304863.4	-	2	1010	c.588G>C	c.(586-588)agG>agC	p.R196S		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	196	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GCTGTGGGTCCCTCAACTGTG	0.458																																						.											0													103	111	108					19																	29698692		2203	4300	6503	SO:0001583	missense	7386			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.588G>C	19.37:g.29698692C>G	ENSP00000306397:p.Arg196Ser		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178721	0.38511	.	.	ENSG00000169021	ENST00000304863	T	0.50813	0.73	5.42	3.17	0.36434	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (4);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72740	-0.4202	10	0.87932	D	0	.	9.3534	0.38151	0.0:0.7315:0.0:0.2685	.	196	P47985	UCRI_HUMAN	S	196	ENSP00000306397:R196S	ENSP00000306397:R196S	R	-	3	2	UQCRFS1	34390532	0.930000	0.31532	1.000000	0.80357	0.347000	0.29111	0.025000	0.13577	1.292000	0.44672	0.462000	0.41574	AGG		0.458	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		G	29698692	C	G	29698692	3	3	54	1	0	0	0	0	1	0	0	0	17018	622	22	5	240	5	UQCRFS1	19	29698692	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	8891422	29698692	29430291	129	5441											
CYP2F1	1572	mdanderson.org	37	chr19	41633809	41633809	+	Missense_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	tcctgccacccctgcagggcGccgtctgtgcctgggagagt	4	8	14	15	2	1	1	0	0	1	1	2	2	2	1	6	2	3	1	6	2	0	0	rs139951793	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:41633809G>A	ENST00000331105.2	+	10	1370	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	433					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGCAGGGCGCCGTCTGTGC	0.612																																						.											0													14	16	15					19																	41633809		2197	4288	6485	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1298G>A	19.37:g.41633809G>A	ENSP00000333534:p.Arg433His		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	g	12.45	1.941510	0.34283	.	.	ENSG00000197446	ENST00000331105	T	0.70631	-0.5	3.1	2.05	0.26809	Cytochrome P450, conserved site (1);	0.176601	0.41194	U	0.000921	T	0.56202	0.1969	L	0.58510	1.815	0.09310	N	1	P	0.40515	0.719	B	0.29862	0.108	T	0.55661	-0.8106	10	0.87932	D	0	.	5.1896	0.15203	0.2785:0.0:0.7215:0.0	.	433	P24903	CP2F1_HUMAN	H	433	ENSP00000333534:R433H	ENSP00000333534:R433H	R	+	2	0	CYP2F1	46325649	0.000000	0.05858	0.010000	0.14722	0.328000	0.28507	0.452000	0.21795	0.529000	0.28599	0.089000	0.15464	CGC		0.612	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41633809	G	A	41633809	3	1	54	1	0	0	0	0	1	0	0	0	4171	1087	38	1	1332	1	CYP2F1	19	41633809	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	11935117	41633809	17495174	130	5442											
ZNF285	26974	mdanderson.org	37	chr19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacacattgcatttgtatGgtttctcccctgtgtggact	7	15	8	11	0	1	0	0	0	1	0	2	1	1	1	2	2	1	3	2	2	1	4	rs77661661		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					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.P455Q(1)		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						GCATTTGTATGGTTTCTCCCC	0.448																																						.											1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	26974			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.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		T	44891043	G	T	44891043	3	4	54	1	0	0	0	0	1	0	0	0	17819	1348	47	5	412	5	ZNF285	19	44891043	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	3257234	44891043	14237940	131	5443											
LMTK3	114783	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	49001439	49001439	+	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	cctccttgggggtgtcagctCcccattctccagcactttct	4	13	8	16	0	3	0	1	0	2	0	6	0	5	0	5	2	2	2	5	2	0	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:49001439C>A	ENST00000600059.1	-	11	3114	c.2887G>T	c.(2887-2889)Gag>Tag	p.E963*	LMTK3_ENST00000270238.3_Nonsense_Mutation_p.E992*			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	963	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)		GGTGTCAGCTCCCCATTCTCC	0.652																																						.											0													90	95	93					19																	49001439		1891	4117	6008	SO:0001587	stop_gained	114783			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.2887G>T	19.37:g.49001439C>A	ENSP00000472020:p.Glu963*		Q4G0U1	Nonsense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037567	0.93630	.	.	ENSG00000142235	ENST00000270238	.	.	.	3.86	3.86	0.44501	.	0.218940	0.27631	U	0.018507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	11.7016	0.51575	0.0:1.0:0.0:0.0	.	.	.	.	X	992	.	ENSP00000270238:E992X	E	-	1	0	LMTK3	53693251	1.000000	0.71417	0.999000	0.59377	0.024000	0.10985	3.012000	0.49575	1.900000	0.55004	0.449000	0.29647	GAG		0.652	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		A	49001439	C	A	49001439	4	1	54	1	0	0	0	0	0	1	0	0	8860	864	30	5	1515	5	LMTK3	19	49001439	Nonsense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10	4110396	49001439	10127544	132	5444											
C19orf41	126123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	50662801	50662801	+	Missense_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	tgaattccttgatcacattcGccctgagggtcaccagctct	8	12	8	13	1	3	3	2	3	1	0	5	3	4	3	3	1	1	1	3	1	1	3			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:50662801G>A	ENST00000293405.3	-	3	344	c.344C>T	c.(343-345)gCg>gTg	p.A115V		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	115						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GATCACATTCGCCCTGAGGGT	0.493																																						.											0													73	72	72					19																	50662801		1873	4106	5979	SO:0001583	missense	126123			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.344C>T	19.37:g.50662801G>A	ENSP00000293405:p.Ala115Val		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585669	0.28268	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.23348	1.91	4.37	-5.46	0.02608	.	1.836250	0.02694	N	0.111039	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	P	0.45672	0.864	B	0.32624	0.149	T	0.23797	-1.0178	10	0.62326	D	0.03	.	2.4691	0.04560	0.1237:0.3936:0.234:0.2488	.	115	Q6UXV1	IZUM2_HUMAN	V	115	ENSP00000293405:A115V	ENSP00000293405:A115V	A	-	2	0	IZUMO2	55354613	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.260000	0.08708	-1.189000	0.02702	-0.314000	0.08810	GCG		0.493	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		A	50662801	G	A	50662801	3	1	54	1	0	0	0	0	1	0	0	0	1924	1087	38	1	341	1	C19orf41	19	50662801	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	1661362	50662801	8466182	133	5445											
ZNF468	90333	mdanderson.org	37	chr19	53352380	53352380	+	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	taattctccagcatcacgtcCctgtataaagtcctctgagc	10	12	6	13	1	3	1	1	1	2	0	6	1	5	1	3	0	2	2	3	0	4	4	rs568961044	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:53352380C>T	ENST00000595646.1	-	3	222	c.102G>A	c.(100-102)agG>agA	p.R34R	ZNF468_ENST00000243639.4_Silent_p.R34R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000396409.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GCATCACGTCCCTGTATAAAG	0.473													-|||	6	0.00119808	8e-04	0	5008	,	,		18410	0.001		0.004	False		,,,				2504	0					.											0													147	149	148					19																	53352380		2203	4300	6503	SO:0001819	synonymous_variant	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.102G>A	19.37:g.53352380C>T			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	CCDS33094.1																																																																																				0.473	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		T	53352380	C	T	53352380	2	4	54	1	0	0	0	0	0	0	0	1	17925	622	22	3		3	ZNF468	19	53352380	Silent	SNP	C	TCGA-KO-8404-01A-11D-2310-10	2689579	53352380	5776603	134	5446											
KIR2DL1	3811	mdanderson.org	37	chr19	55286795	55286795	+	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	0	0	0	0	0	0	0	gtcaacggaacattccaggcTgactttcctctgggccctgc	7	10	10	14	1	2	1	1	1	1	0	4	2	4	2	3	3	3	1	3	3	2	2	rs12982263	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:55286795T>C	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.A183A|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.A183A|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CATTCCAGGCTGACTTTCCTC	0.582													.|||	869	0.173522	0.2201	0.147	5008	,	,		14338	0.0556		0.1362	False		,,,				2504	0.2894					.											0								T		409,3801		116,177,1812	126	140	135		549	-2.2	0	19	dbSNP_121	135	403,7953		122,159,3897	no	coding-synonymous	KIR2DL1	NM_014218.2		238,336,5709	CC,CT,TT		4.8229,9.715,6.4619		183/349	55286795	812,11754	2105	4178	6283	SO:0001627	intron_variant	3802			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.35-42194T>C	19.37:g.55286795T>C			O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37																																																																																					0.582	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		C	55286795	T	C	55286795	1	2	54	0	1	0	0	0	0	0	0	0	8316	1567	55	2		2	KIR2DL1	19	55286795	Intron	SNP	T	TCGA-KO-8404-01A-11D-2310-10	1934415	55286795	3842188	135	5447											
SLC27A5	10998	broad.mit.edu	37	chr19	59022739	59022740	+	Frame_Shift_Ins	INS	-	-	C																															tgttgggcagcccagcttggINSccagccccagccacatacac																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:59022739_59022740insC	ENST00000263093.2	-	1	692_693	c.583_584insG	c.(583-585)gccfs	p.A195fs	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	195					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCAGCTTGGCCAGCCCCAGC	0.688																																						.											0																																										SO:0001589	frameshift_variant	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.584dupG	19.37:g.59022741_59022741dupC	ENSP00000263093:p.Ala195fs		B3KVP6|B4DPQ1	Frame_Shift_Ins	INS	ENST00000263093.2	37	CCDS12983.1																																																																																				0.688	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		C	59022740	-	C	59022739	7	5	54	1	0	1	1	0	0	0	0	0	14529	1203	42	0	1528	0	SLC27A5	19	59022739	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	3735944	59022739	106244	136	5448											
FAM83C	128876	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	33874426	33874426	+	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	tgctgtgacccagggtcagcCgtttctcatccctgaccagg	6	10	11	14	1	2	2	2	2	1	0	4	2	3	2	4	2	2	2	4	2	0	1			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:33874426C>T	ENST00000374408.3	-	4	2252	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	719										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)			CAGGGTCAGCCGTTTCTCATC	0.557																																						.											0													104	96	99					20																	33874426		2203	4300	6503	SO:0001583	missense	128876			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.2156G>A	20.37:g.33874426C>T	ENSP00000363529:p.Arg719Gln		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387130	0.82902	.	.	ENSG00000125998	ENST00000374408	T	0.22539	1.95	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000006	T	0.40956	0.1138	M	0.67700	2.07	0.39146	D	0.962147	D	0.76494	0.999	P	0.59115	0.852	T	0.42732	-0.9434	10	0.87932	D	0	-2.9794	15.6748	0.77307	0.0:1.0:0.0:0.0	.	719	Q9BQN1	FA83C_HUMAN	Q	719	ENSP00000363529:R719Q	ENSP00000363529:R719Q	R	-	2	0	FAM83C	33337840	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.439000	0.52878	2.472000	0.83506	0.462000	0.41574	CGG		0.557	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			T	33874426	C	T	33874426	3	4	54	1	0	0	0	0	1	0	0	0	5635	652	23	1	91	1	FAM83C	20	33874426	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		33874426	29151094	137	5449											
LPIN3	64900	broad.mit.edu	37	chr20	39984606	39984608	+	In_Frame_Del	DEL	TTG	TTG	-																															tgatcctggagatcccctccTtgccaccctccactccaccc																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:39984606_39984608delTTG	ENST00000373257.3	+	14	1826_1828	c.1735_1737delTTG	c.(1735-1737)ttgdel	p.L579del		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	579					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GATCCCCTCCTTGccaccctcca	0.586																																						.											0																																										SO:0001651	inframe_deletion	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1735_1737delTTG	20.37:g.39984606_39984608delTTG	ENSP00000362354:p.Leu579del		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	In_Frame_Del	DEL	ENST00000373257.3	37	CCDS33469.1																																																																																				0.586	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		-	39984608	TTG	-	39984606	7	5	54	1	0	1	0	1	0	0	0	0	8920	1606	56	0	1785	0	LPIN3	20	39984606	In_Frame_Del	DEL	TTG	TCGA-KO-8404-01A-11D-2310-10	6110180	39984606	23040914	138	5450											
CTCFL	140690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	56087702	56087702	+	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	aacctcttctcattcttatgAgttttctggtgctgaatgag	8	17	8	8	0	4	3	1	3	4	0	5	3	4	3	1	1	2	2	1	1	3	5			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:56087702A>G	ENST00000608263.1	-	7	2098	c.1437T>C	c.(1435-1437)acT>acC	p.T479T	CTCFL_ENST00000539382.1_Silent_p.T274T|CTCFL_ENST00000608425.1_Silent_p.T479T|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000609232.1_Silent_p.T479T|CTCFL_ENST00000243914.3_Silent_p.T479T|CTCFL_ENST00000502686.2_Silent_p.T217T|CTCFL_ENST00000608903.1_Silent_p.T217T|CTCFL_ENST00000423479.3_Silent_p.T479T|CTCFL_ENST00000371196.2_Silent_p.T479T|CTCFL_ENST00000608440.1_Silent_p.T479T|CTCFL_ENST00000429804.3_Silent_p.T429T|CTCFL_ENST00000422869.2_Silent_p.T479T|CTCFL_ENST00000608858.1_5'Flank|CTCFL_ENST00000433949.3_Silent_p.T274T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	479					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)			CATTCTTATGAGTTTTCTGGT	0.453																																						.											0													114	96	102					20																	56087702		2203	4300	6503	SO:0001819	synonymous_variant	140690				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.1437T>C	20.37:g.56087702A>G			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	CCDS13459.1																																																																																				0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		G	56087702	A	G	56087702	2	3	54	1	0	0	0	0	0	0	0	1	4001	291	11	2		2	CTCFL	20	56087702	Silent	SNP	A	TCGA-KO-8404-01A-11D-2310-10	16103096	56087702	6937818	139	5451											
KCNQ2	3785	broad.mit.edu	37	chr20	62076054	62076055	+	Frame_Shift_Ins	INS	-	-	C																															agcccagcagcttccaggtgINScctccccgccggtccatgcg																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:62076054_62076055insC	ENST00000359125.2	-	4	821_822	c.647_648insG	c.(646-648)ggcfs	p.G216fs	KCNQ2_ENST00000370224.1_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000354587.3_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000357249.2_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000359689.1_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000344425.5_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000344462.4_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000360480.3_Frame_Shift_Ins_p.G216fs	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	216					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)	GCTTCCAGGTGCCTCCCCGCCG	0.688																																						.											0																																										SO:0001589	frameshift_variant	3785			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.648dupG	20.37:g.62076056_62076056dupC	ENSP00000352035:p.Gly216fs		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Frame_Shift_Ins	INS	ENST00000359125.2	37	CCDS13520.1																																																																																				0.688	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		C	62076055	-	C	62076054	7	5	54	1	0	1	1	0	0	0	0	0	8083	1306	46	0	2090	0	KCNQ2	20	62076054	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	5988352	62076054	949466	140	5452											
OR11H1	81061	mdanderson.org	37	chr22	16449605	16449605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtgtgaagtcgccggTcacaccacaggacaaaagca	13	5	13	10	2	1	1	1	1	0	0	2	3	1	3	2	3	1	1	2	3	3	0			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:16449605T>C	ENST00000252835.4	-	1	200	c.200A>G	c.(199-201)gAc>gGc	p.D67G		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	67						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)		AAGTCGCCGGTCACACCACAG	0.433																																						.											0																																										SO:0001583	missense	81061			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.200A>G	22.37:g.16449605T>C	ENSP00000252835:p.Asp67Gly		Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	t	3.067	-0.192032	0.06299	.	.	ENSG00000130538	ENST00000252835	T	0.02890	4.12	2.19	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.155040	0.28653	N	0.014586	T	0.07413	0.0187	M	0.92833	3.35	0.09310	N	1	B	0.28584	0.216	B	0.32342	0.144	T	0.13469	-1.0508	10	0.87932	D	0	.	6.1983	0.20561	0.0:0.1525:0.0:0.8475	.	67	Q8NG94	O11H1_HUMAN	G	67	ENSP00000252835:D67G	ENSP00000252835:D67G	D	-	2	0	OR11H1	14829605	0.001000	0.12720	0.588000	0.28705	0.057000	0.15508	0.807000	0.27140	0.043000	0.15746	-1.786000	0.00637	GAC		0.433	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		C	16449605	T	C	16449605	3	2	54	1	0	0	0	0	1	0	0	0	10926	1667	58	2	782	2	OR11H1	22	16449605	Missense_Mutation	SNP	T	TCGA-KO-8404-01A-11D-2310-10		16449605	34854961	141	5453											
RIMBP3	85376	broad.mit.edu	37	chr22	20458628	20458629	+	Frame_Shift_Ins	INS	-	-	G																															ggaatctgctccacgaagttINSggagggcaccagcccccgcc																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:20458628_20458629insG	ENST00000426804.1	-	1	3157_3158	c.2673_2674insC	c.(2671-2676)tccaacfs	p.N892fs	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	892	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									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)			TCCACGAAGTTGGAGGGCACCA	0.604																																						.											0																																										SO:0001589	frameshift_variant	85376			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.2674dupC	22.37:g.20458630_20458630dupG	ENSP00000391564:p.Asn892fs		Q8IYP7|Q9BY94|Q9UFQ5	Frame_Shift_Ins	INS	ENST00000426804.1	37	CCDS46665.1																																																																																				0.604	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		G	20458629	-	G	20458628	7	5	54	1	0	1	1	0	0	0	0	0	13364	1812	63	0	2249	0	RIMBP3	22	20458628	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	4009023	20458628	30845938	142	5454											
KDELR3	11015	hgsc.bcm.edu	37	chr22	38877304	38877304	+	Frame_Shift_Del	DEL	A	A	-																															agactggagaggctgagaccAtaactactcactacctgttc																								rs144678116	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:38877304delA	ENST00000216014.4	+	4	611	c.439delA	c.(439-441)atafs	p.I147fs	KDELR3_ENST00000409006.3_Frame_Shift_Del_p.I147fs|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	147					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)					GGCTGAGACCATAACTACTCA	0.493																																					Ovarian(11;103 529 24120 28493 32980)	.											0													152	145	147					22																	38877304		2203	4300	6503	SO:0001589	frameshift_variant	11015			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	ENST00000216014.4:c.439delA	22.37:g.38877304delA	ENSP00000216014:p.Ile147fs		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Frame_Shift_Del	DEL	ENST00000216014.4	37	CCDS13972.1																																																																																				0.493	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			-	38877304	A	-	38877304	7	5	54	1	0	1	0	1	0	0	0	0	8121	217	8	0	453	0	KDELR3	22	38877304	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	18418676	38877304	12427262	143	5455	141	2									
KDELR3	11015	bcgsc.ca	37	chr22	38877305	38877305	+	Frame_Shift_Del	DEL	A	A	-																															gactggagaggctgagaccaTaactactcactacctgttct																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:38877305delA	ENST00000216014.4	+	4	612	c.440delA	c.(439-441)aaafs	p.K147fs	KDELR3_ENST00000409006.3_Frame_Shift_Del_p.K147fs|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	147					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)					GCTGAGACCATAACTACTCAC	0.488																																					Ovarian(11;103 529 24120 28493 32980)	.											0													152	145	147					22																	38877305		2203	4300	6503	SO:0001589	frameshift_variant	11015			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	ENST00000216014.4:c.440delA	22.37:g.38877305delA	ENSP00000216014:p.Lys147fs		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Frame_Shift_Del	DEL	ENST00000216014.4	37	CCDS13972.1																																																																																				0.488	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			-	38877305	A	-	38877305	7	5	54	1	0	1	0	1	0	0	0	0	8121	1406	49	0	454	0	KDELR3	22	38877305	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	1	38877305	12427261	144	5456	141	2									
RPS6KA3	6197	broad.mit.edu	37	chrX	20187576	20187576	+	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	acgaagaagaatttcaatttCttctgttgggtctctcttgc	9	16	8	8	1	5	2	1	0	4	2	6	3	5	2	0	1	1	1	0	1	4	5			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:20187576C>T	ENST00000379565.3	-	16	1594	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E435K|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E433K|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E434K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	463	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|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 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)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E462fs(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	ATTTCAATTTCTTCTGTTGGG	0.299																																						.											1	Complex(1)	breast(1)											164	159	161					X																	20187576		2203	4300	6503	SO:0001583	missense	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1387G>A	X.37:g.20187576C>T	ENSP00000368884:p.Glu463Lys		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345157	0.95807	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.41	5.41	0.78517	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	0.87346	0.6154	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;1.0;0.998	D	0.88934	0.3375	10	0.87932	D	0	.	18.526	0.90973	0.0:1.0:0.0:0.0	.	434;433;435;463	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	K	463;435;433;434	ENSP00000368884:E463K;ENSP00000440220:E435K;ENSP00000368865:E433K;ENSP00000444837:E434K	ENSP00000368865:E433K	E	-	1	0	RPS6KA3	20097497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.715000	0.84713	2.404000	0.81709	0.600000	0.82982	GAA		0.299	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		T	20187576	C	T	20187576	3	4	54	1	0	0	0	0	1	0	0	0	13652	922	32	4	863	4	RPS6KA3	23	20187576	Missense_Mutation	SNP	C	TCGA-KO-8404-01A-11D-2310-10		20187576	135082984	145	5457											
FAM47B	170062	broad.mit.edu	37	chrX	34961067	34961068	+	Frame_Shift_Ins	INS	-	-	C																															aagcacaggcgcctgaggttINScccgcctgtggacacccaga																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:34961067_34961068insC	ENST00000329357.5	+	1	155_156	c.119_120insC	c.(118-123)ttcccgfs	p.FP40fs		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	40										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGCCTGAGGTTCCCGCCTGTGG	0.594																																						.											0																																										SO:0001589	frameshift_variant	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.122dupC	X.37:g.34961070_34961070dupC	ENSP00000328307:p.Phe40fs		Q5JQN5|Q6PIG3	Frame_Shift_Ins	INS	ENST00000329357.5	37	CCDS14236.1																																																																																				0.594	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		C	34961068	-	C	34961067	7	5	54	1	0	1	1	0	0	0	0	0	5570	1783	62	0	121	0	FAM47B	23	34961067	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	14773491	34961067	120309493	146	5458											
HUWE1	10075	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	53586462	53586462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgctgctcagctgaaGgatgtcagcagcagctgagg	10	7	15	9	0	2	2	2	2	0	0	2	3	2	3	0	3	6	7	0	3	2	0			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:53586462G>T	ENST00000342160.3	-	56	8225	c.7768C>A	c.(7768-7770)Ctt>Att	p.L2590I	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Missense_Mutation_p.L2590I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2590					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						CTCAGCTGAAGGATGTCAGCA	0.572																																						.											0													34	29	31					X																	53586462		2203	4300	6503	SO:0001583	missense	10075			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.7768C>A	X.37:g.53586462G>T	ENSP00000340648:p.Leu2590Ile		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.28|19.28	3.797601|3.797601	0.70567|0.70567	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.53206|.	0.63;0.63|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.54367|0.54367	0.1854|0.1854	L|L	0.34521|0.34521	1.04|1.04	0.46478|0.46478	D|D	0.999064|0.999064	P;D|.	0.56035|.	0.956;0.974|.	D;D|.	0.70487|.	0.931;0.969|.	T|T	0.51108|0.51108	-0.8747|-0.8747	10|5	0.52906|.	T|.	0.07|.	.|.	11.6932|11.6932	0.51527|0.51527	0.0833:0.0:0.9167:0.0|0.0833:0.0:0.9167:0.0	.|.	2590;2590|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	I|H	2590|1623	ENSP00000340648:L2590I;ENSP00000262854:L2590I|.	ENSP00000262854:L2590I|.	L|P	-|-	1|2	0|0	HUWE1|HUWE1	53603187|53603187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.776000|3.776000	0.55356|0.55356	2.580000|2.580000	0.87095|0.87095	0.600000|0.600000	0.82982|0.82982	CTT|CCT		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53586462	G	T	53586462	3	4	54	1	0	0	0	0	1	0	0	0	7461	1000	35	5	5468	5	HUWE1	23	53586462	Missense_Mutation	SNP	G	TCGA-KO-8404-01A-11D-2310-10	18625395	53586462	101684098	147	5459											
RAB40A	142684	broad.mit.edu	37	chrX	102755468	102755469	+	Frame_Shift_Ins	INS	-	-	C																															atggtacaaaatcttccctgINSccccgacgtatcccagagct																										TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:102755468_102755469insC	ENST00000372633.1	-	1	2334_2335	c.216_217insG	c.(214-219)gggcagfs	p.Q73fs	RAB40A_ENST00000304236.1_Frame_Shift_Ins_p.Q73fs|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	73					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AATCTTCCCTGCCCCGACGTAT	0.569																																						.											0																																										SO:0001589	frameshift_variant	142684			AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.217dupG	X.37:g.102755472_102755472dupC	ENSP00000361716:p.Gln73fs		O00407|Q17RQ5|Q6DK06|Q8TF06	Frame_Shift_Ins	INS	ENST00000372633.1	37	CCDS35357.1																																																																																				0.569	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			C	102755469	-	C	102755468	7	5	54	1	0	1	1	0	0	0	0	0	12939	1328	46	0	620	0	RAB40A	23	102755468	Frame_Shift_Ins	INS	-	TCGA-KO-8404-01A-11D-2310-10	49169006	102755468	52515092	148	5460											
USP26	83844	broad.mit.edu	37	chrX	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-																															tctatattataggtatctttAaaaaaaagtagccgtgccaa																								rs61758857		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:132161205delA	ENST00000511190.1	-	6	1513	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	348	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.F348fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGGTATCTTTAAAAAAAAGTA	0.388																																					NSCLC(104;342 1621 36940 47097 52632)	.											1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CM077651	USP26	M	rs61758857						35	37	36					X																	132161205		2198	4295	6493	SO:0001589	frameshift_variant	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1044delT	X.37:g.132161205delA	ENSP00000423390:p.Phe348fs		B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	CCDS14635.1																																																																																				0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		-	132161205	A	-	132161205	7	5	54	1	0	1	0	1	0	0	0	0	17054	359	13	0	1700	0	USP26	23	132161205	Frame_Shift_Del	DEL	A	TCGA-KO-8404-01A-11D-2310-10	29405737	132161205	23109355	149	5461											
ENO1	2023	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	8923329	8923329	+	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	ccccacaaccaggtcagcgaTgaaggtatcttcagtctccc	10	8	8	15	1	4	1	2	1	2	0	5	2	4	1	4	2	2	1	4	2	3	2			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:8923329T>A	ENST00000234590.4	-	10	1260	c.1141A>T	c.(1141-1143)Atc>Ttc	p.I381F		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	381					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-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)		AGGTCAGCGATGAAGGTATCT	0.557											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	.											0													131	121	124					1																	8923329		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1141A>T	1.37:g.8923329T>A	ENSP00000234590:p.Ile381Phe	653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297227	0.81025	.	.	ENSG00000074800	ENST00000234590	T	0.61742	0.08	5.46	5.46	0.80206	Enolase, C-terminal (1);	0.048343	0.85682	D	0.000000	D	0.83275	0.5219	H	0.96489	3.83	0.58432	D	0.999999	P;D;D;D;D;D	0.89917	0.614;0.999;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.85130	0.523;0.995;0.996;0.997;0.991;0.997	D	0.88684	0.3204	10	0.87932	D	0	-27.4565	14.716	0.69269	0.0:0.0:0.0:1.0	.	82;285;219;131;288;381	A4QMW8;E2DRY6;Q9BT62;Q96GV1;P06733-2;P06733	.;.;.;.;.;ENOA_HUMAN	F	381	ENSP00000234590:I381F	ENSP00000234590:I381F	I	-	1	0	ENO1	8845916	1.000000	0.71417	0.992000	0.48379	0.526000	0.34562	7.917000	0.87498	2.090000	0.63153	0.459000	0.35465	ATC		0.557	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		A	8923329	T	A	8923329	3	1	55	1	0	0	0	0	1	0	0	0	5121	1464	51	5	175	5	ENO1	1	8923329	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		8923329	240327292	1	5462											
TMEM201	199953	ucsc.edu	37	chr1	9673104	9673104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttggccgccaacgcccTgttcacctcggtgtttctgt	4	12	11	14	3	2	0	1	0	1	0	3	1	2	0	4	2	2	3	4	2	1	3			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:9673104T>C	ENST00000340381.6	+	11	1973	c.1964T>C	c.(1963-1965)cTg>cCg	p.L655P	TMEM201_ENST00000377376.4_Missense_Mutation_p.L631P	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	655					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)		GCCAACGCCCTGTTCACCTCG	0.652																																						.											0													86	95	92					1																	9673104		692	1591	2283	SO:0001583	missense	199953				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.1964T>C	1.37:g.9673104T>C	ENSP00000344503:p.Leu655Pro		B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078081	0.55753	.	.	ENSG00000188807	ENST00000377376;ENST00000340381	.	.	.	5.27	5.27	0.74061	.	0.190024	0.34268	N	0.004108	T	0.46639	0.1403	L	0.32530	0.975	0.53005	D	0.99996	P	0.52842	0.956	P	0.44732	0.459	T	0.52756	-0.8533	9	0.87932	D	0	-26.1062	13.7563	0.62940	0.0:0.0:0.0:1.0	.	631	E9PBR6	.	P	631;655	.	ENSP00000344503:L655P	L	+	2	0	TMEM201	9595691	0.982000	0.34865	0.964000	0.40570	0.276000	0.26787	3.196000	0.51020	2.000000	0.58554	0.374000	0.22700	CTG		0.652	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		C	9673104	T	C	9673104	3	2	55	1	0	0	0	0	1	0	0	0	16123	1580	55	2	2025	2	TMEM201	1	9673104	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	749775	9673104	239577517	2	5463											
FAM131C	348487	broad.mit.edu;mdanderson.org	37	chr1	16386095	16386095	+	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	gtgatggcaaactgctcggcGacccctgggggaacagcgag	9	5	16	11	3	0	1	0	1	0	0	1	4	0	2	2	4	4	2	2	4	2	0			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:16386095G>A	ENST00000375662.4	-	6	639	c.456C>T	c.(454-456)gtC>gtT	p.V152V	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	152										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTCGGCGACCCCTGGGG	0.672																																						.											0													15	15	15					1																	16386095		1788	4014	5802	SO:0001819	synonymous_variant	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.456C>T	1.37:g.16386095G>A			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																				0.672	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		A	16386095	G	A	16386095	2	1	55	1	0	0	0	0	0	0	0	1	5441	1045	37	1		1	FAM131C	1	16386095	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	6712991	16386095	232864526	3	5464											
NPHS2	7827	mdanderson.org	37	chr1	179544941	179544941	+	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	ccctcttgttctccttgtgcGgagtcctgccgcctcgcccg	1	12	10	18	4	2	0	0	0	2	0	5	1	3	1	6	1	2	1	6	1	0	3	rs74315344	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:179544941G>A	ENST00000367615.4	-	1	127	c.59C>T	c.(58-60)cCg>cTg	p.P20L	RNU5F-2P_ENST00000516066.1_RNA|NPHS2_ENST00000367616.4_Missense_Mutation_p.P20L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	20			P -> L (in dbSNP:rs74315344). {ECO:0000269|PubMed:10742096}.		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						CTCCTTGTGCGGAGTCCTGCC	0.761													G|||	16	0.00319489	0.0061	0.0014	5008	,	,		9986	0.001		0	False		,,,				2504	0.0061					.											0			GRCh37	CM000579	NPHS2	M	rs74315344	G	LEU/PRO	16,3402		0,16,1693	3	4	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	59	2.8	0	1	dbSNP_131	3	14,7402		0,14,3694	yes	missense	NPHS2	NM_014625.2	98	0,30,5387	AA,AG,GG		0.1888,0.4681,0.2769	benign	20/384	179544941	30,10804	1709	3708	5417	SO:0001583	missense	7827			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.59C>T	1.37:g.179544941G>A	ENSP00000356587:p.Pro20Leu		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	CCDS1331.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	13.54	2.268734	0.40095	0.004681	0.001888	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99656	-6.31;-6.31	3.85	2.83	0.33086	.	1.497510	0.04248	U	0.338137	D	0.97854	0.9295	N	0.24115	0.695	0.09310	A	2.44025e-07	B;B	0.30193	0.272;0.098	B;B	0.19666	0.026;0.012	D	0.99312	1.0904	9	0.56958	D	0.05	-0.5397	8.0545	0.30598	0.0:0.0:0.7583:0.2417	.	20;20	Q9NP85-2;Q9NP85	.;PODO_HUMAN	L	20	ENSP00000356587:P20L;ENSP00000356588:P20L	ENSP00000356587:P20L	P	-	2	0	NPHS2	177811564	0.011000	0.17503	0.002000	0.10522	0.051000	0.14879	1.779000	0.38624	1.857000	0.53885	0.313000	0.20887	CCG		0.761	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			A	179544941	G	A	179544941	3	1	55	1	0	0	0	0	1	0	0	0	10583	1116	39	1	1124	1	NPHS2	1	179544941	Missense_Mutation	SNP	G	TCGA-KO-8405-01A-11D-2310-10	163158846	179544941	69705680	4	5465											
CHIT1	1118	bcgsc.ca	37	chr1	203186950	203186950	+	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	agtcatctaagtccagtgccCagaccatggccccgcccagt	9	7	9	16	1	2	1	1	0	1	1	3	1	3	1	6	1	1	0	6	1	1	1	rs201320385|rs3831317|rs150192398	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:203186950C>T	ENST00000367229.1	-	10	1107	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W339*|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W349*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	358					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCAGTGCCCAGACCATGGC	0.632																																						.											0													60	52	54					1																	203186950		2203	4300	6503	SO:0001587	stop_gained	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1073G>A	1.37:g.203186950C>T	ENSP00000356198:p.Trp358*		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918897	0.73098	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.57	4.57	0.56435	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7042	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	358;339;349	.	ENSP00000255427:W339X	W	-	2	0	CHIT1	201453573	1.000000	0.71417	0.432000	0.26747	0.080000	0.17528	6.938000	0.75904	2.238000	0.73509	0.563000	0.77884	TGG		0.632	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186950	C	T	203186950	4	4	55	1	0	0	0	0	0	1	0	0	3346	595	21	4	335	4	CHIT1	1	203186950	Nonsense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	23642009	203186950	46063671	5	5466											
SRGAP2	647135	broad.mit.edu	37	chr1	206516357	206516357	+	IGR	DEL	A	A	-																															aggactcaggaagactctttAaaaaggtacagagatatttc																										TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:206516357delA								CTSE (184253 upstream) : SRGAP2-AS1 (35861 downstream)																							AAGACTCTTTAAAAAGGTACA	0.408																																						.											0													42	38	39					1																	206516357		1863	4095	5958	SO:0001628	intergenic_variant	23380																															1.37:g.206516357delA				Frame_Shift_Del	DEL		37																																																																																				0	0.408									-	206516357	A	-	206516357	6	5	55	0	1	1	0	1	0	0	0	0	15145	369	13	0		0	SRGAP2	1	206516357	IGR	DEL	A	TCGA-KO-8405-01A-11D-2310-10	3329407	206516357	42734264	6	5467											
OR2T33	391195	mdanderson.org	37	chr1	248436807	248436807	+	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	gcactctccaccacccagtgTggggaggaagaagatctgca	11	6	12	12	0	2	2	0	0	2	2	3	4	2	4	3	3	1	2	3	3	2	0	rs377005013		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr1:248436807T>A	ENST00000318021.2	-	1	331	c.310A>T	c.(310-312)Aca>Tca	p.T104S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACCCAGTGTGGGGAGGAAG	0.587																																						.											0								T	SER/THR	0,4404		0,0,2202	41	42	42		310	1.4	0	1		42	3,8573		0,3,4285	no	missense	OR2T33	NM_001004695.1	58	0,3,6487	AA,AT,TT		0.035,0.0,0.0231	benign	104/321	248436807	3,12977	2202	4288	6490	SO:0001583	missense	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.310A>T	1.37:g.248436807T>A	ENSP00000324687:p.Thr104Ser		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.015	-1.560487	0.00910	0.0	3.5E-4	ENSG00000177212	ENST00000318021	T	0.00453	7.33	2.7	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	U	0.002677	T	0.00144	0.0004	N	0.10972	0.075	0.09310	N	1	P	0.35307	0.494	B	0.31191	0.125	T	0.34825	-0.9813	10	0.23891	T	0.37	.	3.7146	0.08433	0.5145:0.1202:0.0:0.3652	.	104	Q8NG76	O2T33_HUMAN	S	104	ENSP00000324687:T104S	ENSP00000324687:T104S	T	-	1	0	OR2T33	246503430	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-1.540000	0.02200	0.124000	0.18369	0.404000	0.27445	ACA		0.587	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		A	248436807	T	A	248436807	3	1	55	1	0	0	0	0	1	0	0	0	11024	1696	59	5	655	5	OR2T33	1	248436807	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	41920450	248436807	813814	7	5468											
MBOAT2	129642	broad.mit.edu	37	chr2	9013240	9013240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttacatgttacttacctAgcgtccatgcaaaatagtat	13	15	5	8	1	0	0	0	0	0	0	1	0	1	0	2	0	5	3	2	0	9	8			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:9013240A>G	ENST00000305997.3	-	8	1079	c.881T>C	c.(880-882)cTa>cCa	p.L294P	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	294					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTACTTACCTAGCGTCCATGC	0.413																																					Ovarian(194;1699 3813 22401)	.											0													82	78	79					2																	9013240		2203	4300	6503	SO:0001583	missense	129642			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.881T>C	2.37:g.9013240A>G	ENSP00000302177:p.Leu294Pro		A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046540	0.75846	.	.	ENSG00000143797	ENST00000305997	T	0.74421	-0.84	5.07	5.07	0.68467	.	0.139671	0.46442	D	0.000286	D	0.88239	0.6383	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	D	0.90823	0.4710	10	0.87932	D	0	-7.5219	14.8342	0.70169	1.0:0.0:0.0:0.0	.	294;294	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	P	294	ENSP00000302177:L294P	ENSP00000302177:L294P	L	-	2	0	MBOAT2	8930691	1.000000	0.71417	0.964000	0.40570	0.796000	0.44982	8.954000	0.93051	1.902000	0.55061	0.377000	0.23210	CTA		0.413	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		G	9013240	A	G	9013240	3	3	55	1	0	0	0	0	1	0	0	0	9357	420	15	2	705	2	MBOAT2	2	9013240	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10		9013240	234186133	8	5469											
NPAS2	4862	broad.mit.edu	37	chr2	101607324	101607324	+	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	cggaagtcagcaggacgggaCggcaagtcaagtacgtggac	12	4	16	9	4	2	0	2	0	0	0	2	4	2	4	0	5	2	3	0	5	4	1	rs141762291		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:101607324C>T	ENST00000335681.5	+	19	2386	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	AC016738.4_ENST00000452364.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.R766W	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	701					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						CAGGACGGGACGGCAAGTCAA	0.652																																						.											0								C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	69	62	64		2101	3.7	1	2	dbSNP_134	64	1,8599		0,1,4299	no	missense	NPAS2	NM_002518.3	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	701/825	101607324	3,13003	2203	4300	6503	SO:0001583	missense	4862			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.2101C>T	2.37:g.101607324C>T	ENSP00000338283:p.Arg701Trp		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245069|3.245069	0.59103|0.59103	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000433408	T;T|.	0.05382|.	3.47;3.45|.	4.63|4.63	3.74|3.74	0.42951|0.42951	.|.	.|.	.|.	.|.	.|.	T|T	0.56529|0.56529	0.1991|0.1991	L|L	0.51422|0.51422	1.61|1.61	0.38431|0.38431	D|D	0.946433|0.946433	D;D|.	0.69078|.	0.997;0.992|.	P;B|.	0.49953|.	0.627;0.332|.	T|T	0.57081|0.57081	-0.7872|-0.7872	9|5	0.87932|.	D|.	0|.	.|.	7.2525|7.2525	0.26158|0.26158	0.0:0.745:0.0:0.255|0.0:0.745:0.0:0.255	.|.	766;701|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	W|M	701;766|199	ENSP00000338283:R701W;ENSP00000438428:R766W|.	ENSP00000338283:R701W|.	R|T	+|+	1|2	2|0	NPAS2|NPAS2	100973756|100973756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.394000|1.394000	0.34509|0.34509	2.279000|2.279000	0.76181|0.76181	0.462000|0.462000	0.41574|0.41574	CGG|ACG		0.652	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			T	101607324	C	T	101607324	3	4	55	1	0	0	0	0	1	0	0	0	10563	527	19	1	2171	1	NPAS2	2	101607324	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	92594084	101607324	141592049	9	5470											
CBWD2	150472	broad.mit.edu	37	chr2	114201378	114201379	+	Frame_Shift_Ins	INS	-	-	G																															aatccttagctgtcagccaaINSggtggagagctctatgaaga																										TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:114201378_114201379insG	ENST00000259199.4	+	3	454_455	c.276_277insG	c.(277-279)ggtfs	p.G93fs	CBWD2_ENST00000416503.2_Frame_Shift_Ins_p.G93fs|CBWD2_ENST00000433343.2_Frame_Shift_Ins_p.G57fs	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	93							ATP binding (GO:0005524)			endometrium(1)|lung(1)	2						CTGTCAGCCAAGGTGGAGAGCT	0.421																																						.											0																																										SO:0001589	frameshift_variant	150472			AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.278dupG	2.37:g.114201380_114201380dupG	ENSP00000259199:p.Gly93fs		Q0VAN3	Frame_Shift_Ins	INS	ENST00000259199.4	37	CCDS2116.1																																																																																				0.421	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254149.3	NM_172003		G	114201379	-	G	114201378	7	5	55	1	0	1	1	0	0	0	0	0	2713	69	3	0	286	0	CBWD2	2	114201378	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10	12594054	114201378	128997995	10	5471											
HS6ST1	9394	mdanderson.org	37	chr2	129025928	129025928	+	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	aagaggtccttggcgtagtcGtacagctgcatgtccaggtc	8	10	13	10	2	0	1	0	0	0	1	4	1	2	1	2	3	3	4	2	3	3	3	rs200330310	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:129025928G>A	ENST00000259241.6	-	2	1057	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	348					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)		TGGCGTAGTCGTACAGCTGCA	0.642																																						.											0													76	81	79					2																	129025928		2180	4286	6466	SO:0001819	synonymous_variant	9394			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.1044C>T	2.37:g.129025928G>A			B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Silent	SNP	ENST00000259241.6	37	CCDS42748.1																																																																																				0.642	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		A	129025928	G	A	129025928	2	1	55	1	0	0	0	0	0	0	0	1	7370	1140	40	1		1	HS6ST1	2	129025928	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	14824550	129025928	114173445	11	5472											
ADAM23	8745	broad.mit.edu;bcgsc.ca	37	chr2	207459582	207459582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcaagccctaaatatgAgcagctgtccactcgattcc	13	10	6	12	1	1	1	1	1	0	0	4	2	3	1	3	0	3	2	3	0	5	4			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr2:207459582A>G	ENST00000264377.3	+	23	2528	c.2200A>G	c.(2200-2202)Agc>Ggc	p.S734G	ADAM23_ENST00000374416.1_Missense_Mutation_p.S734G|ADAM23_ENST00000374415.3_Missense_Mutation_p.S734G	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	734	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		CCTAAATATGAGCAGCTGTCC	0.483																																					Melanoma(194;1127 2130 19620 24042 27855)	.											0													183	167	172					2																	207459582		2203	4300	6503	SO:0001583	missense	8745			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.2200A>G	2.37:g.207459582A>G	ENSP00000264377:p.Ser734Gly		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.1|22.1	4.249450|4.249450	0.80024|0.80024	.|.	.|.	ENSG00000114948|ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415|ENST00000444281	T;T;T|.	0.02067|.	4.48;4.47;4.47|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76335|.	0.3973|.	M|M	0.78456|0.78456	2.415|2.415	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.89917|.	1.0|.	D|.	0.66497|.	0.944|.	T|.	0.77067|.	-0.2725|.	10|.	0.52906|.	T|.	0.07|.	.|.	15.528|15.528	0.75928|0.75928	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	734|.	O75077|.	ADA23_HUMAN|.	G|W	734;734;628;734|8	ENSP00000264377:S734G;ENSP00000363537:S734G;ENSP00000363536:S734G|.	ENSP00000264377:S734G|.	S|X	+|+	1|3	0|0	ADAM23|ADAM23	207167827|207167827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	7.327000|7.327000	0.79147|0.79147	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	AGC|TGA		0.483	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		G	207459582	A	G	207459582	3	3	55	1	0	0	0	0	1	0	0	0	245	304	11	2	2290	2	ADAM23	2	207459582	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	78433654	207459582	35739791	12	5473											
CCR2	729230	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr3	46399846	46399846	+	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	gaattcttcggcctgagtaaCtgtgaaagcaccagtcaact	12	10	9	10	1	2	2	1	2	1	0	3	3	2	2	2	1	3	2	2	1	4	3			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr3:46399846C>A	ENST00000400888.2	+	1	867	c.828C>A	c.(826-828)aaC>aaA	p.N276K	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Missense_Mutation_p.N276K|CCR2_ENST00000292301.4_Missense_Mutation_p.N276K			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	276					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GCCTGAGTAACTGTGAAAGCA	0.473																																						.											0													160	146	150					3																	46399846		1568	3582	5150	SO:0001583	missense	729230				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.828C>A	3.37:g.46399846C>A	ENSP00000383681:p.Asn276Lys		A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906713	0.33628	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.69306	2.06;-0.39;-0.39	4.95	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.402277	0.25383	N	0.031073	T	0.71221	0.3314	M	0.77820	2.39	0.22401	N	0.999136	B;P	0.38420	0.21;0.63	P;B	0.46208	0.507;0.41	T	0.65307	-0.6200	10	0.66056	D	0.02	.	9.0876	0.36590	0.0:0.6655:0.0:0.3345	.	276;276	P41597;Q4VBL2	CCR2_HUMAN;.	K	276	ENSP00000399285:N276K;ENSP00000292301:N276K;ENSP00000383681:N276K	ENSP00000292301:N276K	N	+	3	2	CCR2	46374850	0.000000	0.05858	0.333000	0.25482	0.497000	0.33675	-0.329000	0.07935	1.197000	0.43143	0.585000	0.79938	AAC		0.473	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		A	46399846	C	A	46399846	3	1	55	1	0	0	0	0	1	0	0	0	2941	564	20	5	830	5	CCR2	3	46399846	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10		46399846	151622584	13	5474											
OTOP1	133060	ucsc.edu	37	chr4	4228424	4228425	+	Missense_Mutation	DNP	TT	TT	CC																															ctgctcagcatctcggccagTttctgtgggacgctggcgcg																								rs78657691		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr4:4228424_4228425TT>CC	ENST00000296358.4	-	1	191_192	c.167_168AA>GG	c.(166-168)aAA>aGG	p.K56R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	56					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)		TCTCGGCCAGTTTCTGTGGGAC	0.738																																						.											0																																										SO:0001583	missense	133060			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.167_168delinsCC	4.37:g.4228424_4228425delinsCC	ENSP00000296358:p.Lys56Arg		A1L476	Missense_Mutation	DNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.738	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		CC	4228425	TT	CC	4228424	3	2	55	1	0	0	0	0	1	0	0	0	11305	1722	60	2	1694	2	OTOP1	4	4228424	Missense_Mutation	DNP	TT	TCGA-KO-8405-01A-11D-2310-10		4228424	186925852	14	5475											
FBXW7	55294	hgsc.bcm.edu	37	chr4	153247276	153247276	+	Missense_Mutation	SNP	T	T	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	taacaaccctcctgccatcaTattgaacacagcggactgct	12	9	6	14	1	1	1	1	1	0	0	2	2	2	2	3	1	6	1	3	1	4	3			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr4:153247276T>C	ENST00000281708.4	-	10	2755	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	FBXW7_ENST00000603841.1_Missense_Mutation_p.Y509C|FBXW7_ENST00000393956.3_Missense_Mutation_p.Y333C|FBXW7_ENST00000603548.1_Missense_Mutation_p.Y509C|FBXW7_ENST00000296555.5_Missense_Mutation_p.Y391C|FBXW7_ENST00000263981.5_Missense_Mutation_p.Y429C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	509					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.Y429F(1)|p.Y509F(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCTGCCATCATATTGAACACA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	.		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	3	Substitution - Missense(2)|Unknown(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)											171	164	167					4																	153247276		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1526A>G	4.37:g.153247276T>C	ENSP00000281708:p.Tyr509Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002642	0.74932	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054216	0.85682	D	0.000000	T	0.73946	0.3652	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.996;0.996	T	0.75377	-0.3339	10	0.56958	D	0.05	-21.1615	16.2962	0.82776	0.0:0.0:0.0:1.0	.	333;509;391;429	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	509;391;429;333	ENSP00000281708:Y509C;ENSP00000296555:Y391C;ENSP00000263981:Y429C;ENSP00000377528:Y333C	ENSP00000263981:Y429C	Y	-	2	0	FBXW7	153466726	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.965000	0.87945	2.304000	0.77564	0.528000	0.53228	TAT		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			C	153247276	T	C	153247276	3	2	55	1	0	0	0	0	1	0	0	0	5769	1406	49	4	609	4	FBXW7	4	153247276	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	149018852	153247276	37907000	15	5476											
PTCD2	79810	ucsc.edu	37	chr5	71638808	71638808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagatggcaaaagctgTgtccattttttctcaaatca	13	13	8	7	0	2	1	2	1	1	1	4	3	3	1	1	1	1	2	1	1	4	3			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr5:71638808T>C	ENST00000380639.5	+	8	789	c.773T>C	c.(772-774)gTg>gCg	p.V258A	PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.V86A|PTCD2_ENST00000503868.1_Missense_Mutation_p.V149A|PTCD2_ENST00000460837.2_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	258					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCAAAAGCTGTGTCCATTTTT	0.318																																						.											0													81	77	78					5																	71638808		2203	4297	6500	SO:0001583	missense	79810			BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.773T>C	5.37:g.71638808T>C	ENSP00000370013:p.Val258Ala		B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	T	0.453	-0.893057	0.02491	.	.	ENSG00000049883	ENST00000380639;ENST00000503868;ENST00000510676;ENST00000536805	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.47	-5.28	0.02755	.	1.923100	0.02223	N	0.064192	T	0.32010	0.0815	L	0.44542	1.39	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.15983	-1.0418	10	0.17832	T	0.49	.	8.9156	0.35579	0.0:0.5064:0.1812:0.3123	.	149;86;258	E9PFV7;B7Z8L7;Q8WV60	.;.;PTCD2_HUMAN	A	258;149;87;86	ENSP00000370013:V258A;ENSP00000427349:V149A;ENSP00000426295:V87A;ENSP00000444772:V86A	ENSP00000308948:V258A	V	+	2	0	PTCD2	71674564	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.552000	0.06020	-0.792000	0.04480	-0.334000	0.08254	GTG		0.318	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		C	71638808	T	C	71638808	3	2	55	1	0	0	0	0	1	0	0	0	12728	1696	59	2	803	2	PTCD2	5	71638808	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		71638808	109276452	16	5477											
TIMD4	91937	broad.mit.edu	37	chr5	156378731	156378733	+	In_Frame_Del	DEL	GGT	GGT	-																															ggggttgttgtcatttgtcgGgtggtggtggggcttgttgt																										TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr5:156378731_156378733delGGT	ENST00000274532.2	-	3	525_527	c.469_471delACC	c.(469-471)accdel	p.T157del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T157del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	157	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATTTGTCGGGTGGTGGTGGGG	0.527																																						.											0																																										SO:0001651	inframe_deletion	91937			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.469_471delACC	5.37:g.156378737_156378739delGGT	ENSP00000274532:p.Thr157del		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	CCDS4332.1																																																																																				0.527	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		-	156378733	GGT	-	156378731	7	5	55	1	0	1	0	1	0	0	0	0	15900	1219	43	0	693	0	TIMD4	5	156378731	In_Frame_Del	DEL	GGT	TCGA-KO-8405-01A-11D-2310-10	84739923	156378731	24536529	17	5478											
NRSN1	140767	ucsc.edu	37	chr6	24146152	24146152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccagggttcaaaatgTccagcctctactggcaacct	9	12	8	12	0	2	0	1	0	1	0	4	0	4	0	4	2	3	2	4	2	4	3			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:24146152T>C	ENST00000378491.4	+	4	867	c.566T>C	c.(565-567)gTc>gCc	p.V189A		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GTTCAAAATGTCCAGCCTCTA	0.488																																						.											0													59	66	64					6																	24146152		2203	4300	6503	SO:0001583	missense	140767			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.566T>C	6.37:g.24146152T>C	ENSP00000367752:p.Val189Ala			Missense_Mutation	SNP	ENST00000378491.4	37	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644350	0.67244	.	.	ENSG00000152954	ENST00000378491	T	0.22743	1.94	5.35	5.35	0.76521	.	0.116292	0.64402	D	0.000016	T	0.14657	0.0354	M	0.66939	2.045	0.80722	D	1	P	0.40534	0.72	B	0.35278	0.199	T	0.03555	-1.1025	10	0.87932	D	0	-15.1381	15.351	0.74384	0.0:0.0:0.0:1.0	.	189	Q8IZ57	NRSN1_HUMAN	A	189	ENSP00000367752:V189A	ENSP00000367752:V189A	V	+	2	0	NRSN1	24254131	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.451000	0.80668	2.027000	0.59764	0.528000	0.53228	GTC		0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		C	24146152	T	C	24146152	3	2	55	1	0	0	0	0	1	0	0	0	10662	1667	58	2	572	2	NRSN1	6	24146152	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		24146152	146968915	18	5479											
HLA-A	3105	mdanderson.org	37	chr6	29910801	29910801	+	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	ctactacaaccagagcgaggCcggtgagtgaccccggccgg	9	4	14	14	4	0	3	0	2	0	1	0	4	0	3	5	4	4	0	5	4	3	2	rs1136692	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:29910801C>A	ENST00000396634.1	+	4	682	c.341C>A	c.(340-342)gCc>gAc	p.A114D	HLA-A_ENST00000376806.5_Missense_Mutation_p.A114D|HLA-A_ENST00000376809.5_Missense_Mutation_p.A114D|HLA-A_ENST00000376802.2_Missense_Mutation_p.A114D			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	114	Alpha-1.		A -> D (in allele A*31:03).		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						CAGAGCGAGGCCGGTGAGTGA	0.682									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)			a|||	1484	0.296326	0.2413	0.1744	5008	,	,		10398	0.3929		0.2475	False		,,,				2504	0.408					.											0								A	ASP/ALA	802,3598		84,634,1482	40	43	42		341	-6.5	0	6	dbSNP_131	42	2513,6069		461,1591,2239	no	missense	HLA-A	NM_002116.7	126	545,2225,3721	AA,AC,CC		29.2822,18.2273,25.5354	benign	114/366	29910801	3315,9667	2200	4291	6491	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	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.341C>A	6.37:g.29910801C>A	ENSP00000379873:p.Ala114Asp		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	514	0.23534798534798534	95	0.19308943089430894	51	0.1408839779005525	175	0.30594405594405594	193	0.2546174142480211	.	7.188	0.590993	0.13812	0.182273	0.292822	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00009	9.49;9.49;9.49;9.49	3.57	-6.48	0.01896	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	.	.	.	.	T	0.00039	0.0001	M	0.73319	2.225	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.0;0.0	T	0.14783	-1.0460	8	0.37606	T	0.19	.	7.6397	0.28286	0.3552:0.3375:0.3073:0.0	rs1136692;rs2231013;rs2308561;rs3177886;rs3179185;rs12721825;rs17433758;rs41557214	114;114;114;114	Q5SRN7;P16188;Q5SRN5;P04439	.;1A30_HUMAN;.;1A03_HUMAN	D	114	ENSP00000379873:A114D;ENSP00000366002:A114D;ENSP00000366005:A114D;ENSP00000365998:A114D	ENSP00000348012:A114D	A	+	2	0	HLA-A	30018780	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-1.881000	0.01626	-1.395000	0.02074	-4.609000	0.00004	GCC		0.682	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29910801	C	A	29910801	3	1	55	1	0	0	0	0	1	0	0	0	7195	739	26	5	347	5	HLA-A	6	29910801	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	5764649	29910801	141204266	19	5480											
RNF39	80352	mdanderson.org	37	chr6	30043171	30043171	+	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	ggacacggcaggccgcagcaGggacaggcggtgggggaagc	9	1	21	10	3	0	0	0	0	0	0	0	3	0	3	1	8	2	3	1	8	1	0	rs9261304	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:30043171G>C	ENST00000244360.6	-	1	493	c.396C>G	c.(394-396)ccC>ccG	p.P132P	RNF39_ENST00000376751.3_Silent_p.P132P	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	132						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GGCCGCAGCAGGGACAGGCGG	0.721													g|||	207	0.0413339	0.0499	0.0403	5008	,	,		11706	0.0357		0.0507	False		,,,				2504	0.0266				NSCLC(8;188 360 1520 20207 31481)	.											0								G	,	120,3262		0,120,1571	4	5	4		396,396	0.7	0.9	6	dbSNP_118	4	303,6971		5,293,3339	no	coding-synonymous,coding-synonymous	RNF39	NM_025236.3,NM_170769.2	,	5,413,4910	CC,CG,GG		4.1655,3.5482,3.9696	,	132/421,132/355	30043171	423,10233	1691	3637	5328	SO:0001819	synonymous_variant	80352			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.396C>G	6.37:g.30043171G>C			A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	37	CCDS4673.1																																																																																				0.721	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		C	30043171	G	C	30043171	2	2	55	1	0	0	0	0	0	0	0	1	13491	987	35	5		5	RNF39	6	30043171	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	132370	30043171	141071896	20	5481											
HLA-B	3106	mdanderson.org	37	chr6	31324595	31324595	+	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	tgctctatccacggcgcccgCggctcctctctcggactcgc	3	9	10	19	6	2	0	0	0	2	0	7	1	4	1	3	3	1	2	3	3	1	1	rs1050543|rs281864598	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:31324595C>G	ENST00000412585.2	-	2	241	c.213G>C	c.(211-213)ccG>ccC	p.P71P		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	71	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ACGGCGCCCGCGGCTCCTCTC	0.672									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	2476	0.494409	0.4902	0.4539	5008	,	,		8006	0.5417		0.3718	False		,,,				2504	0.6063					.											0								C		1038,3194		276,486,1354	35	35	35		213	0.2	0.6	6	dbSNP_134	35	1583,6613		422,739,2937	no	coding-synonymous	HLA-B	NM_005514.6		698,1225,4291	GG,GC,CC		19.3143,24.5274,21.0895		71/363	31324595	2621,9807	2116	4098	6214	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.213G>C	6.37:g.31324595C>G			Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.672	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		G	31324595	C	G	31324595	2	3	55	1	0	0	0	0	0	0	0	1	7196	755	27	5		5	HLA-B	6	31324595	Silent	SNP	C	TCGA-KO-8405-01A-11D-2310-10	1281424	31324595	139790472	21	5482											
HSP90AB1	3326	mdanderson.org	37	chr6	44221262	44221262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggcagcagaggaacccaAtgctgcagttcctgatgaga	12	7	13	9	0	0	3	0	2	0	2	1	5	1	4	2	2	4	5	2	2	2	1	rs201760495	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:44221262A>G	ENST00000371554.1	+	12	2316	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.N701S|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.N701S|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	701					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)			GAGGAACCCAATGCTGCAGTT	0.453											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													75	76	76					6																	44221262		2203	4300	6503	SO:0001583	missense	3326			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.2102A>G	6.37:g.44221262A>G	ENSP00000360609:p.Asn701Ser	922	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	3.876	-0.026861	0.07589	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.08807	3.05;3.05;3.05	3.91	3.91	0.45181	.	0.272984	0.27901	N	0.017393	T	0.00580	0.0019	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.47749	-0.9093	10	0.02654	T	1	-8.621	7.7636	0.28968	0.0881:0.2939:0.618:0.0	.	663;691;701	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	S	701	ENSP00000360709:N701S;ENSP00000325875:N701S;ENSP00000360609:N701S	ENSP00000325875:N701S	N	+	2	0	HSP90AB1	44329240	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.913000	0.48790	1.010000	0.39314	-0.166000	0.13349	AAT		0.453	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		G	44221262	A	G	44221262	3	3	55	1	0	0	0	0	1	0	0	0	7402	101	4	4	2144	4	HSP90AB1	6	44221262	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	12896667	44221262	126893805	22	5483											
ROS1	6098	bcgsc.ca	37	chr6	117718246	117718246	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcgggacttgagctcTcaatattcctaatcaaaggt	11	12	9	9	1	2	1	2	1	1	0	5	2	3	2	1	2	1	1	1	2	4	4			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr6:117718246T>C	ENST00000368508.3	-	7	809	c.611A>G	c.(610-612)gAg>gGg	p.E204G	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E213G	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	204	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTTGAGCTCTCAATATTCCT	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													90	90	90					6																	117718246		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.611A>G	6.37:g.117718246T>C	ENSP00000357494:p.Glu204Gly		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592321	0.46214	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.58506	0.33;0.33	5.54	4.37	0.52481	.	0.341658	0.26808	N	0.022397	T	0.29850	0.0746	L	0.47716	1.5	0.24776	N	0.992846	P	0.34934	0.476	B	0.34873	0.191	T	0.06844	-1.0804	10	0.35671	T	0.21	.	7.8253	0.29311	0.0:0.1551:0.0:0.8449	.	204	P08922	ROS1_HUMAN	G	204;213	ENSP00000357494:E204G;ENSP00000357493:E213G	ENSP00000357493:E213G	E	-	2	0	ROS1	117824939	0.652000	0.27349	0.837000	0.33122	0.996000	0.88848	2.332000	0.43903	2.229000	0.72834	0.528000	0.53228	GAG		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			C	117718246	T	C	117718246	3	2	55	1	0	0	0	0	1	0	0	0	13531	1551	54	2	6580	2	ROS1	6	117718246	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	73496984	117718246	53396821	23	5484											
C7orf50	84310	ucsc.edu;bcgsc.ca	37	chr7	1049662	1049662	+	Missense_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	ggccacaaggcctgcctcccGcagacgctgcctctcctctt	5	8	9	19	2	2	1	0	0	2	1	4	1	3	1	6	2	2	2	6	2	1	1			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr7:1049662G>A	ENST00000397098.3	-	3	1173	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	C7orf50_ENST00000357429.6_Missense_Mutation_p.R83W|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.R83W			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	83							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTGCCTCCCGCAGACGCTGC	0.682																																						.											0													56	49	51					7																	1049662		2198	4298	6496	SO:0001583	missense	84310			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.247C>T	7.37:g.1049662G>A	ENSP00000380286:p.Arg83Trp			Missense_Mutation	SNP	ENST00000397098.3	37	CCDS5320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.32|10.32	1.316882|1.316882	0.23908|0.23908	.|.	.|.	ENSG00000146540|ENSG00000146540	ENST00000412051|ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163	.|.	.|.	.|.	3.65|3.65	0.353|0.353	0.16058|0.16058	.|.	.|0.075435	.|0.50627	.|D	.|0.000114	T|T	0.47619|0.47619	0.1455|0.1455	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|D	.|0.76494	.|0.999	.|P	.|0.60473	.|0.875	T|T	0.31779|0.31779	-0.9931|-0.9931	5|9	.|0.66056	.|D	.|0.02	-10.5968|-10.5968	7.3918|7.3918	0.26913|0.26913	0.0:0.1567:0.524:0.3193|0.0:0.1567:0.524:0.3193	.|.	.|83	.|Q9BRJ6	.|CG050_HUMAN	V|W	67|83;83;83;51;83	.|.	.|ENSP00000350011:R83W	A|R	-|-	2|1	0|2	C7orf50|C7orf50	1016188|1016188	0.000000|0.000000	0.05858|0.05858	0.076000|0.076000	0.20297|0.20297	0.104000|0.104000	0.19210|0.19210	-0.583000|-0.583000	0.05807|0.05807	0.297000|0.297000	0.22615|0.22615	0.457000|0.457000	0.33378|0.33378	GCG|CGG		0.682	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		A	1049662	G	A	1049662	3	1	55	1	0	0	0	0	1	0	0	0	2399	1086	38	1	349	1	C7orf50	7	1049662	Missense_Mutation	SNP	G	TCGA-KO-8405-01A-11D-2310-10		1049662	158089001	24	5485											
VPS37D	155382	ucsc.edu	37	chr7	73085354	73085354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcccaggagcagatggAgcagctgctgctcggggagc	7	4	17	13	2	0	1	0	0	0	1	1	4	0	4	2	5	6	5	2	5	0	0			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr7:73085354A>G	ENST00000324941.4	+	4	538	c.404A>G	c.(403-405)gAg>gGg	p.E135G	VPS37D_ENST00000451519.1_Missense_Mutation_p.E50G	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAGCAGATGGAGCAGCTGCTG	0.687																																						.											0													27	30	29					7																	73085354		2041	4162	6203	SO:0001583	missense	155382			AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"Williams Beuren syndrome chromosome region 24", "vacuolar protein sorting 37D (yeast)"	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.404A>G	7.37:g.73085354A>G	ENSP00000320416:p.Glu135Gly			Missense_Mutation	SNP	ENST00000324941.4	37	CCDS43596.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940897	0.52972	.	.	ENSG00000176428	ENST00000324941;ENST00000451519	T;T	0.80738	-1.41;-1.41	4.18	4.18	0.49190	Modifier of rudimentary, Modr (2);	0.084599	0.44285	D	0.000467	D	0.86661	0.5986	M	0.67397	2.05	0.45227	D	0.998237	D	0.76494	0.999	D	0.79108	0.992	D	0.87301	0.2305	10	0.87932	D	0	.	9.5294	0.39185	1.0:0.0:0.0:0.0	.	135	Q86XT2	VP37D_HUMAN	G	135;50	ENSP00000320416:E135G;ENSP00000413337:E50G	ENSP00000320416:E135G	E	+	2	0	VPS37D	72723290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.238000	0.43070	1.743000	0.51761	0.459000	0.35465	GAG		0.687	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		G	73085354	A	G	73085354	3	3	55	1	0	0	0	0	1	0	0	0	17205	304	11	2	418	2	VPS37D	7	73085354	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	72035692	73085354	86053309	25	5486											
PRSS3	5646	mdanderson.org	37	chr9	33796734	33796734	+	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	ggtgtccctgaattctggctCccacttctgcggtggctccc	3	12	11	15	1	2	1	0	1	2	0	5	1	5	1	3	4	1	2	3	4	1	2			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr9:33796734C>A	ENST00000361005.5	+	2	305	c.305C>A	c.(304-306)tCc>tAc	p.S102Y	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.S38Y|PRSS3_ENST00000379405.3_Missense_Mutation_p.S45Y|PRSS3_ENST00000342836.4_Missense_Mutation_p.S59Y	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	102	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)			AATTCTGGCTCCCACTTCTGC	0.557																																						.											0													137	141	140					9																	33796734		2203	4300	6503	SO:0001583	missense	5646				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.305C>A	9.37:g.33796734C>A	ENSP00000354280:p.Ser102Tyr		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.285213	0.00251	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59	3.21	2.03	0.26663	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.242652	0.43416	N	0.000563	T	0.79364	0.4433	L	0.42008	1.315	0.21579	N	0.999634	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.58612	-0.7606	10	0.02654	T	1	.	7.8678	0.29547	0.7856:0.2143:0.0:0.0	.	45;102;59	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	Y	102;57;59;38;45	ENSP00000354280:S102Y;ENSP00000401249:S57Y;ENSP00000340889:S59Y;ENSP00000401828:S38Y;ENSP00000368715:S45Y	ENSP00000340889:S59Y	S	+	2	0	PRSS3	33786734	1.000000	0.71417	0.925000	0.36789	0.028000	0.11728	4.228000	0.58619	0.284000	0.22305	-0.886000	0.02939	TCC		0.557	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		A	33796734	C	A	33796734	3	1	55	1	0	0	0	0	1	0	0	0	12622	855	30	5	355	5	PRSS3	9	33796734	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10		33796734	107416697	26	5487											
C9orf79	286234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	90500243	90500243	+	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	ccgtcccccagagctcccctCtacacaaccaggtgctgcct	7	7	7	20	1	1	1	0	0	1	1	3	1	3	1	7	1	5	2	7	1	2	1			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr9:90500243C>G	ENST00000325643.5	+	4	907	c.841C>G	c.(841-843)Cta>Gta	p.L281V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	281	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGCTCCCCTCTACACAACCA	0.652																																						.											0													42	45	44					9																	90500243		2203	4300	6503	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.841C>G	9.37:g.90500243C>G	ENSP00000322640:p.Leu281Val		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	7.466	0.645757	0.14451	.	.	ENSG00000177992	ENST00000325643	T	0.03524	3.9	1.89	-0.762	0.11034	.	0.834804	0.09796	N	0.754810	T	0.02888	0.0086	L	0.39898	1.24	0.09310	N	1	P	0.43094	0.799	B	0.36378	0.223	T	0.45818	-0.9235	10	0.13108	T	0.6	.	8.1474	0.31119	0.0:0.3695:0.6305:0.0	.	281	Q6ZUB1	CI079_HUMAN	V	281	ENSP00000322640:L281V	ENSP00000322640:L281V	L	+	1	2	C9orf79	89690063	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.117000	0.15583	-0.158000	0.11040	0.455000	0.32223	CTA		0.652	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		G	90500243	C	G	90500243	3	3	55	1	0	0	0	0	1	0	0	0	2497	912	32	5	855	5	C9orf79	9	90500243	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	56703509	90500243	50713188	27	5488											
SARDH	1757	broad.mit.edu;bcgsc.ca	37	chr9	136550314	136550314	+	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	acgtggccagctggaacctaCcaggtgccctgcggctctca	7	7	12	15	2	1	0	1	0	1	0	2	1	1	1	4	4	5	2	4	4	2	1			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr9:136550314C>A	ENST00000371872.4	-	17	2421		c.e17+1		SARDH_ENST00000422262.2_Splice_Site|SARDH_ENST00000439388.1_Splice_Site|SARDH_ENST00000371868.1_Splice_Site	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase						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)		CTGGAACCTACCAGGTGCCCT	0.662																																						.											0													86	65	72					9																	136550314		2203	4300	6503	SO:0001630	splice_region_variant	1757				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.2163+1G>T	9.37:g.136550314C>A			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Splice_Site	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671051	0.67814	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2821	0.82697	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SARDH	135540135	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	6.689000	0.74562	1.922000	0.55676	0.462000	0.41574	.		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		Intron	A	136550314	C	A	136550314	5	1	55	1	0	0	0	0	0	0	1	0	13841	521	18	5	612	5	SARDH	9	136550314	Splice_Site	SNP	C	TCGA-KO-8405-01A-11D-2310-10	46050071	136550314	4663117	28	5489											
MAN1B1	11253	broad.mit.edu	37	chr9	139990718	139990719	+	Frame_Shift_Ins	INS	-	-	C																															gacacatccagcggggaccaINScctcacctgcagattagacc																										TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr9:139990718_139990719insC	ENST00000371589.4	+	4	568_569	c.495_496insC	c.(496-498)cctfs	p.P166fs	SNORD62_ENST00000362541.1_RNA|MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	166					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)		AGCGGGGACCACCTCACCTGCA	0.574																																						.											0																																										SO:0001589	frameshift_variant	11253			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.497dupC	9.37:g.139990720_139990720dupC	ENSP00000360645:p.Pro166fs		Q5VSG3|Q9BRS9|Q9Y5K7	Frame_Shift_Ins	INS	ENST00000371589.4	37	CCDS7029.1																																																																																				0.574	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		C	139990719	-	C	139990718	7	5	55	1	0	1	1	0	0	0	0	0	9212	146	6	0	509	0	MAN1B1	9	139990718	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10	3440404	139990718	1222713	29	5490											
IDE	3416	broad.mit.edu	37	chr10	94223677	94223677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccactctgctttctaggtAgtgaggtggcttttctgact	5	17	10	9	0	3	2	0	2	3	0	4	2	4	2	1	3	1	3	1	3	2	6			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr10:94223677A>G	ENST00000265986.6	-	21	2628	c.2572T>C	c.(2572-2574)Tac>Cac	p.Y858H	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.Y303H	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	858					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)"	CTTTCTAGGTAGTGAGGTGGC	0.453																																						.											0													245	243	244					10																	94223677		2203	4300	6503	SO:0001583	missense	3416			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.2572T>C	10.37:g.94223677A>G	ENSP00000265986:p.Tyr858His		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304590	0.81136	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34275	1.39;1.37	5.61	4.48	0.54585	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	L	0.58428	1.81	0.80722	D	1	P;P	0.42993	0.55;0.797	P;P	0.56612	0.567;0.802	T	0.33979	-0.9847	10	0.25751	T	0.34	-10.3367	11.7351	0.51761	0.9308:0.0:0.0692:0.0	.	858;303	P14735;B3KSB8	IDE_HUMAN;.	H	858;303	ENSP00000265986:Y858H;ENSP00000360637:Y303H	ENSP00000265986:Y858H	Y	-	1	0	IDE	94213657	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.002000	0.93572	1.065000	0.40693	-0.256000	0.11100	TAC		0.453	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		G	94223677	A	G	94223677	3	3	55	1	0	0	0	0	1	0	0	0	7493	420	15	2	507	2	IDE	10	94223677	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10		94223677	41311070	30	5491											
MUC5B	727897	broad.mit.edu	37	chr11	1263525	1263526	+	Frame_Shift_Ins	INS	-	-	G																															caacctcaggggttgcaggcINSggggacatggaaacttttga																								rs369279116		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:1263525_1263526insG	ENST00000529681.1	+	31	5473_5474	c.5415_5416insG	c.(5416-5418)gggfs	p.G1806fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.G1809fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1806	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)		GGGTTGCAGGCGGGGACATGGA	0.579																																						.											0																																										SO:0001589	frameshift_variant	727897			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.5419dupG	11.37:g.1263529_1263529dupG	ENSP00000436812:p.Gly1806fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.579	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1263526	-	G	1263525	7	5	55	1	0	1	1	0	0	0	0	0	9979	755	27	0	5546	0	MUC5B	11	1263525	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10		1263525	133742991	31	5492											
OR4A5	81318	mdanderson.org	37	chr11	51412022	51412022	+	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	tcaaatagtgcagtggcttaCagatggccacatagcgatca	13	9	10	9	1	2	1	2	0	0	1	2	2	2	1	1	2	3	2	1	2	4	3			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:51412022C>G	ENST00000319760.6	-	1	426	c.374G>C	c.(373-375)tGt>tCt	p.C125S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGTGGCTTACAGATGGCCAC	0.473																																						.											0													73	69	70					11																	51412022		2201	4294	6495	SO:0001583	missense	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.374G>C	11.37:g.51412022C>G	ENSP00000367664:p.Cys125Ser		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.507356	0.27036	.	.	ENSG00000221840	ENST00000319760	T	0.33438	1.41	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.40067	0.1102	M	0.89030	3	0.37900	D	0.931019	B	0.26195	0.144	B	0.30572	0.117	T	0.54970	-0.8213	10	0.72032	D	0.01	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	125	Q8NH83	OR4A5_HUMAN	S	125	ENSP00000367664:C125S	ENSP00000367664:C125S	C	-	2	0	OR4A5	51268598	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	4.721000	0.61951	1.394000	0.46624	0.162000	0.16502	TGT		0.473	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		G	51412022	C	G	51412022	3	3	55	1	0	0	0	0	1	0	0	0	11043	478	17	5	577	5	OR4A5	11	51412022	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	50148497	51412022	83594494	32	5493											
OR4A16	81327	mdanderson.org	37	chr11	55111086	55111086	+	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	tttgaacatcatgaatcgacTggtttgcatccttctgttgg	8	16	9	8	1	2	2	1	2	1	0	4	3	3	2	1	2	2	3	1	2	2	4	rs78354885	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:55111086T>A	ENST00000314721.2	+	1	460	c.410T>A	c.(409-411)cTg>cAg	p.L137Q		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	137						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(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						ATGAATCGACTGGTTTGCATC	0.468																																						.											0													179	162	168					11																	55111086		2201	4296	6497	SO:0001583	missense	81327			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.410T>A	11.37:g.55111086T>A	ENSP00000325128:p.Leu137Gln		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.541719	0.00142	.	.	ENSG00000181961	ENST00000314721	T	0.37058	1.22	2.69	-1.28	0.09318	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.29701	-1.0003	9	0.07325	T	0.83	.	2.94	0.05826	0.5713:0.0:0.2415:0.1872	.	137	Q8NH70	O4A16_HUMAN	Q	137	ENSP00000325128:L137Q	ENSP00000325128:L137Q	L	+	2	0	OR4A16	54867662	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.859000	0.00727	-0.456000	0.07043	-2.168000	0.00324	CTG		0.468	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		A	55111086	T	A	55111086	3	1	55	1	0	0	0	0	1	0	0	0	11041	1580	55	5	412	5	OR4A16	11	55111086	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	3699064	55111086	79895430	33	5494											
OR1S2	219958	mdanderson.org	37	chr11	57970980	57970980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataggagaagaagatgagtAcaaaggggaagatgataact	19	6	13	3	0	0	6	0	2	0	4	0	8	0	7	0	3	2	1	0	3	7	3	rs34249289|rs11229277	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:57970980A>G	ENST00000302592.6	-	1	673	c.674T>C	c.(673-675)gTa>gCa	p.V225A		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	225			V -> A (in dbSNP:rs11229277).|V -> I (in dbSNP:rs11229278).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAAGATGAGTACAAAGGGGAA	0.458													a|||	423	0.0844649	0.0257	0.1138	5008	,	,		23120	0.0536		0.1083	False		,,,				2504	0.1503					.											0													164	137	146					11																	57970980		2201	4296	6497	SO:0001583	missense	219958			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.674T>C	11.37:g.57970980A>G	ENSP00000305469:p.Val225Ala		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	109	0.04990842490842491	13	0.026422764227642278	27	0.07458563535911603	19	0.033216783216783216	50	0.06596306068601583	a	5.168	0.216627	0.09810	.	.	ENSG00000197887	ENST00000302592	T	0.38240	1.15	4.75	-0.698	0.11280	GPCR, rhodopsin-like superfamily (1);	0.471664	0.17897	N	0.158338	T	0.01029	0.0034	N	0.17674	0.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	9	0.02654	T	1	.	5.3927	0.16253	0.337:0.3756:0.2875:0.0	rs11229277;rs52800241;rs11229277	225	Q8NGQ3	OR1S2_HUMAN	A	225	ENSP00000305469:V225A	ENSP00000305469:V225A	V	-	2	0	OR1S2	57727556	0.000000	0.05858	0.260000	0.24451	0.836000	0.47400	0.422000	0.21296	0.053000	0.16036	-0.866000	0.03004	GTA		0.458	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57970980	A	G	57970980	3	3	55	1	0	0	0	0	1	0	0	0	10973	391	14	2	306	2	OR1S2	11	57970980	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	2859894	57970980	77035536	34	5495											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr11	64664287	64664287	+	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	ggcagctggttcttgcggatGtcctgcagccactcgttgag	5	11	14	11	2	1	1	0	1	1	0	3	2	2	2	2	3	4	5	2	3	0	3	rs180755321		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:64664287G>A	ENST00000377264.3	-	38	5317	c.5205C>T	c.(5203-5205)gaC>gaT	p.D1735D	ATG2A_ENST00000421419.2_Silent_p.D1737D	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1735					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						TCTTGCGGATGTCCTGCAGCC	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0	0	5008	,	,		17180	0.001		0	False		,,,				2504	0					.											0													53	53	53					11																	64664287		2201	4297	6498	SO:0001819	synonymous_variant	23130				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.5205C>T	11.37:g.64664287G>A		1078	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.328	0.825936	0.16749	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.05	-0.377	0.12501	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44651	-0.9314	4	.	.	.	.	7.9988	0.30284	0.4059:0.0:0.5941:0.0	.	.	.	.	Y	1539	.	.	H	-	1	0	ATG2A	64420863	0.997000	0.39634	0.997000	0.53966	0.848000	0.48234	0.323000	0.19593	-0.146000	0.11274	-0.367000	0.07326	CAT		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		A	64664287	G	A	64664287	2	1	55	1	0	0	0	0	0	0	0	1	1093	1368	48	4		4	ATG2A	11	64664287	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	6693307	64664287	70342229	35	5496											
FOLR2	2350	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	71932013	71932013	+	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	actttaactgggaccactgcGgcaagatggagcccgcctgc	9	7	12	13	2	0	1	0	0	0	1	0	3	0	3	3	3	4	1	3	3	2	2	rs74853303	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr11:71932013G>A	ENST00000298223.6	+	3	437	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	FOLR2_ENST00000449475.2_Missense_Mutation_p.G101S|FOLR2_ENST00000454954.2_Missense_Mutation_p.G43S	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)	84					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)	GGACCACTGCGGCAAGATGGA	0.602													G|||	26	0.00519169	0.0182	0.0029	5008	,	,		12907	0		0	False		,,,				2504	0					.											0								G	SER/GLY,SER/GLY,SER/GLY,SER/GLY	57,4343	57.4+/-93.9	0,57,2143	40	41	41		250,250,250,250	0.6	0	11	dbSNP_131	41	0,8586		0,0,4293	yes	missense,missense,missense,missense	FOLR2	NM_000803.4,NM_001113534.1,NM_001113535.1,NM_001113536.1	56,56,56,56	0,57,6436	AA,AG,GG		0.0,1.2955,0.4389	benign,benign,benign,benign	84/256,84/256,84/256,84/256	71932013	57,12929	2200	4293	6493	SO:0001583	missense	2350			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.250G>A	11.37:g.71932013G>A	ENSP00000298223:p.Gly84Ser		Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	CCDS8212.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	g	13.67	2.307800	0.40795	0.012955	0.0	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000454954;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.52	0.548	0.17208	Folate receptor-like (1);	0.130041	0.51477	N	0.000089	T	0.57533	0.2060	M	0.82517	2.595	0.41806	D	0.989941	D	0.63880	0.993	P	0.55391	0.775	T	0.72194	-0.4364	10	0.54805	T	0.06	.	8.3882	0.32512	0.3371:0.0:0.6629:0.0	.	84	P14207	FOLR2_HUMAN	S	101;84;101;43;130;95;99;84;97;84	ENSP00000405638:G101S;ENSP00000298223:G84S;ENSP00000414094:G43S;ENSP00000443307:G130S;ENSP00000441547:G95S;ENSP00000438568:G99S;ENSP00000444794:G84S;ENSP00000321957:G97S;ENSP00000440337:G84S	ENSP00000298223:G84S	G	+	1	0	FOLR2	71609661	0.998000	0.40836	0.018000	0.16275	0.154000	0.21943	2.691000	0.47010	-0.058000	0.13177	0.455000	0.32223	GGC		0.602	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		A	71932013	G	A	71932013	3	1	55	1	0	0	0	0	1	0	0	0	5982	1116	39	1	256	1	FOLR2	11	71932013	Missense_Mutation	SNP	G	TCGA-KO-8405-01A-11D-2310-10	7267726	71932013	63074503	36	5497											
CSDA	8531	mdanderson.org	37	chr12	10875488	10875488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcgctgccggcggcggTggctaaagaggcggcggccg	4	6	19	12	7	1	1	0	0	1	1	2	1	1	1	2	7	1	2	2	7	2	2	rs1126501	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr12:10875488T>C	ENST00000228251.4	-	1	423	c.223A>G	c.(223-225)Acc>Gcc	p.T75A	YBX3_ENST00000279550.7_Missense_Mutation_p.T75A	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	75			T -> A (in dbSNP:rs1126501). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2977358, ECO:0000269|PubMed:7628487}.		3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										Ccggcggcggtggctaaagag	0.776													T|||	1419	0.283347	0.1445	0.2824	5008	,	,		8539	0.5069		0.1779	False		,,,				2504	0.3497					.											0								T	ALA/THR,ALA/THR	475,3499		27,421,1539	5	5	5		223,223	-2.8	0.2	12	dbSNP_86	5	980,6780		49,882,2949	yes	missense,missense	CSDA	NM_003651.4,NM_001145426.1	58,58	76,1303,4488	CC,CT,TT		12.6289,11.9527,12.3999	benign,benign	75/373,75/304	10875488	1455,10279	1987	3880	5867	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.223A>G	12.37:g.10875488T>C	ENSP00000228251:p.Thr75Ala		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	603	0.2760989010989011	81	0.16463414634146342	114	0.3149171270718232	280	0.48951048951048953	128	0.16886543535620052	T	3.109	-0.183165	0.06340	0.119527	0.126289	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.20881	2.04;2.09	1.88	-2.83	0.05769	.	0.173369	0.26439	N	0.024375	T	0.00012	0.0000	N	0.01705	-0.755	0.51767	P	6.700000000003925E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32877	-0.9890	9	0.08179	T	0.78	.	3.6567	0.08223	0.0:0.1732:0.4872:0.3397	rs1126501;rs3181559;rs11538063;rs17850397;rs17851939;rs17856315	75;75	P16989-2;P16989	.;DBPA_HUMAN	A	75	ENSP00000279550:T75A;ENSP00000228251:T75A	ENSP00000228251:T75A	T	-	1	0	CSDA	10766755	0.976000	0.34144	0.193000	0.23327	0.876000	0.50452	-0.117000	0.10708	-0.712000	0.04988	0.260000	0.18958	ACC		0.776	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		C	10875488	T	C	10875488	3	2	55	1	0	0	0	0	1	0	0	0	3927	1696	59	2	931	2	CSDA	12	10875488	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		10875488	122976407	37	5498											
HOXC9	3225	mdanderson.org	37	chr12	54394497	54394497	+	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	aagcacaaagaggagaaggcCgacctggaccccagtaagtt	15	4	12	10	1	0	2	0	0	0	2	0	5	0	3	4	3	1	3	4	3	4	2	rs2241820	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr12:54394497C>T	ENST00000303450.4	+	1	595	c.525C>T	c.(523-525)gcC>gcT	p.A175A	HOXC-AS1_ENST00000512427.1_RNA|HOXC9_ENST00000504557.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000508190.1_Silent_p.A175A|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	175					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGGAGAAGGCCGACCTGGACC	0.692													C|||	2895	0.578075	0.4667	0.5346	5008	,	,		12030	0.7609		0.6014	False		,,,				2504	0.547					.											0								C		1809,1381		539,731,325	6	7	7		525	1.1	1	12	dbSNP_98	7	4221,2551		1360,1501,525	no	coding-synonymous	HOXC9	NM_006897.1		1899,2232,850	TT,TC,CC		37.6698,43.2915,39.47		175/261	54394497	6030,3932	1595	3386	4981	SO:0001819	synonymous_variant	3225				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"Homeoboxes / ANTP class : HOXL subclass"	5130	protein-coding gene	gene with protein product		142971	"homeo box C9"	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.525C>T	12.37:g.54394497C>T			B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	CCDS8869.1																																																																																				0.692	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			T	54394497	C	T	54394497	2	4	55	1	0	0	0	0	0	0	0	1	7317	639	23	1		1	HOXC9	12	54394497	Silent	SNP	C	TCGA-KO-8405-01A-11D-2310-10	43519009	54394497	79457398	38	5499											
GALNT4	8693	bcgsc.ca	37	chr12	89918149	89918149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttataaagcggtcgagAcaaatcctccgtatttttct	10	15	6	10	3	2	1	0	0	2	1	5	2	4	1	2	1	1	1	2	1	5	6			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr12:89918149A>G	ENST00000529983.2	-	1	434	c.178T>C	c.(178-180)Tct>Cct	p.S60P	GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.S57P|POC1B_ENST00000549035.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	60					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	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)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AGCGGTCGAGACAAATCCTCC	0.562											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													65	69	68					12																	89918149		1846	4092	5938	SO:0001583	missense	100528030			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.178T>C	12.37:g.89918149A>G	ENSP00000436604:p.Ser60Pro	1271	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	A	9.270	1.045405	0.19748	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.53857	0.6;0.6	5.77	4.57	0.56435	.	.	.	.	.	T	0.42200	0.1192	L	0.29908	0.895	0.29763	N	0.835364	P;P	0.41265	0.744;0.682	B;B	0.40825	0.341;0.116	T	0.33240	-0.9876	9	0.30854	T	0.27	.	11.7429	0.51803	0.7536:0.2464:0.0:0.0	.	57;60	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	P	57;60	ENSP00000447852:S57P;ENSP00000436604:S60P	ENSP00000436604:S60P	S	-	1	0	GALNT4;RP11-1109F11.4	88442280	1.000000	0.71417	0.984000	0.44739	0.055000	0.15305	1.247000	0.32815	2.198000	0.70561	0.533000	0.62120	TCT		0.562	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		G	89918149	A	G	89918149	3	3	55	1	0	0	0	0	1	0	0	0	6215	275	10	2	1562	2	GALNT4	12	89918149	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10	35523652	89918149	43933746	39	5500											
ZFP106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	42720229	42720229	+	Missense_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	cactaacctttatgttgaagGtgaccacagtgccatttgcc	10	12	8	11	0	0	2	0	2	0	0	0	2	0	2	4	1	3	1	4	1	3	5			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr15:42720229G>A	ENST00000263805.4	-	12	5242	c.4916C>T	c.(4915-4917)aCc>aTc	p.T1639I	RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565380.1_Missense_Mutation_p.T867I|ZNF106_ENST00000565611.1_Missense_Mutation_p.T824I	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1639					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TATGTTGAAGGTGACCACAGT	0.512																																						.											0													171	138	150					15																	42720229		2203	4299	6502	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4916C>T	15.37:g.42720229G>A	ENSP00000263805:p.Thr1639Ile		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785110	0.70222	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.14266	2.52	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101382	0.64402	D	0.000002	T	0.25419	0.0618	L	0.29908	0.895	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.62435	0.881;0.902;0.881	T	0.00577	-1.1662	10	0.42905	T	0.14	-9.4294	19.1213	0.93365	0.0:0.0:1.0:0.0	.	867;1639;867	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	I	1639;867	ENSP00000263805:T1639I	ENSP00000263805:T1639I	T	-	2	0	ZFP106	40507521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.960000	0.70348	2.753000	0.94483	0.650000	0.86243	ACC		0.512	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		A	42720229	G	A	42720229	3	1	55	1	0	0	0	0	1	0	0	0	17634	1261	44	3	767	3	ZFP106	15	42720229	Missense_Mutation	SNP	G	TCGA-KO-8405-01A-11D-2310-10		42720229	59811163	40	5501											
WDR90	197335	mdanderson.org	37	chr16	705360	705360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggctgcgtggcggggTgctgcgttcctgccccgtgg	0	9	19	13	5	0	0	0	0	0	0	1	0	1	0	3	6	4	3	3	6	0	1	rs3803697	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr16:705360T>C	ENST00000293879.4	+	15	1610	c.1610T>C	c.(1609-1611)gTg>gCg	p.V537A	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.V537A			Q96KV7	WDR90_HUMAN	WD repeat domain 90	537			V -> A (in dbSNP:rs3803697). {ECO:0000269|PubMed:15489334}.							endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGTGGCGGGGTGCTGCGTTCC	0.706													C|||	3489	0.696685	0.8744	0.5965	5008	,	,		15360	0.9841		0.3757	False		,,,				2504	0.5613					.											0								C	ALA/VAL	3355,989		1322,711,139	17	29	25		1610	-9.3	0	16	dbSNP_107	25	3028,5518		558,1912,1803	yes	missense	WDR90	NM_145294.4	64	1880,2623,1942	CC,CT,TT		35.4318,22.767,49.519	benign	537/1749	705360	6383,6507	2172	4273	6445	SO:0001583	missense	197335			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.1610T>C	16.37:g.705360T>C	ENSP00000293879:p.Val537Ala		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	1465	0.6707875457875457	417	0.8475609756097561	197	0.5441988950276243	562	0.9825174825174825	289	0.3812664907651715	C	0.015	-1.540982	0.00934	0.77233	0.354318	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.26067	1.8;1.76	4.67	-9.34	0.00636	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	1.118960	0.07045	N	0.830877	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.23261	-1.0193	9	0.07813	T	0.8	.	1.8074	0.03084	0.3135:0.1797:0.0853:0.4215	rs3803697	537;537;538;537	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	A	537	ENSP00000448122:V537A;ENSP00000293879:V537A	ENSP00000293879:V537A	V	+	2	0	WDR90	645361	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.586000	0.05787	-3.437000	0.00163	-2.865000	0.00100	GTG		0.706	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		C	705360	T	C	705360	3	2	55	1	0	0	0	0	1	0	0	0	17334	1696	59	2	1668	2	WDR90	16	705360	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		705360	89649393	41	5502											
ZNF205	7755	broad.mit.edu	37	chr16	3169758	3169759	+	Frame_Shift_Ins	INS	-	-	C																															ggcgagaagccctacacctgINSccccgcctgccggaagagct																										TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr16:3169758_3169759insC	ENST00000382192.3	+	7	1302_1303	c.1097_1098insC	c.(1096-1101)tgccccfs	p.CP366fs	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Frame_Shift_Ins_p.CP366fs|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	366					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						CCCTACACCTGCCCCGCCTGCC	0.653																																						.											0																																										SO:0001589	frameshift_variant	7755			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.1101dupC	16.37:g.3169762_3169762dupC	ENSP00000371627:p.Cys366fs		A8MZK0|D3DUB4|Q9BU95	Frame_Shift_Ins	INS	ENST00000382192.3	37	CCDS10494.2																																																																																				0.653	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		C	3169759	-	C	3169758	7	5	55	1	0	1	1	0	0	0	0	0	17761	1319	46	0	1119	0	ZNF205	16	3169758	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10	2464398	3169758	87184995	42	5503											
CREBBP	1387	broad.mit.edu	37	chr16	3817815	3817815	+	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	acttctactttcacttcaggTttcttttcatccacttccat	7	19	2	13	0	5	0	3	0	2	0	7	0	7	0	2	1	1	1	2	1	1	8			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr16:3817815T>C	ENST00000262367.5	-	16	3965	c.3156A>G	c.(3154-3156)aaA>aaG	p.K1052K	CREBBP_ENST00000382070.3_Silent_p.K1014K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1052					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)		TCACTTCAGGTTTCTTTTCAT	0.443			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													254	226	235					16																	3817815		2197	4300	6497	SO:0001819	synonymous_variant	1387			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.3156A>G	16.37:g.3817815T>C			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.443	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		C	3817815	T	C	3817815	2	2	55	1	0	0	0	0	0	0	0	1	3861	1722	60	2		2	CREBBP	16	3817815	Silent	SNP	T	TCGA-KO-8405-01A-11D-2310-10	648057	3817815	86536938	43	5504											
NOB1	28987	bcgsc.ca	37	chr16	69783533	69783533	+	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	aatcgatgagctcaccttaaCctttaaaaaaacaaaaaaca	21	8	3	9	1	1	1	1	1	0	0	2	2	1	1	2	0	4	1	2	0	9	3			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr16:69783533C>T	ENST00000268802.5	-	4	357	c.328G>A	c.(328-330)Gtt>Att	p.V110I		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	110					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTCACCTTAACCTTTAAAAAA	0.413																																						.											0													62	59	60					16																	69783533		2198	4300	6498	SO:0001630	splice_region_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.328-1G>A	16.37:g.69783533C>T			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549058	0.27652	.	.	ENSG00000141101	ENST00000268802	T	0.31247	1.5	4.61	4.61	0.57282	.	0.241768	0.41500	D	0.000871	T	0.22859	0.0552	N	0.25201	0.72	0.58432	D	0.999999	B	0.13594	0.008	B	0.17098	0.017	T	0.04495	-1.0947	9	.	.	.	.	17.5775	0.87955	0.0:1.0:0.0:0.0	.	110	Q9ULX3	NOB1_HUMAN	I	110	ENSP00000268802:V110I	.	V	-	1	0	NOB1	68341034	1.000000	0.71417	0.997000	0.53966	0.262000	0.26303	2.682000	0.46934	2.555000	0.86185	0.555000	0.69702	GTT		0.413	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062	Missense_Mutation	T	69783533	C	T	69783533	5	4	55	1	0	0	0	0	0	0	1	0	10511	521	18	3	934	3	NOB1	16	69783533	Splice_Site	SNP	C	TCGA-KO-8405-01A-11D-2310-10	65965718	69783533	20571220	44	5505											
ODF4	146852	hgsc.bcm.edu;bcgsc.ca	37	chr17	8249105	8249105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctccaagggcacagacgAtcacagacacccccatcacc	14	4	6	17	1	3	2	2	0	1	2	4	3	3	2	4	1	0	1	4	1	2	0			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr17:8249105A>G	ENST00000328248.2	+	3	897	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	ODF4_ENST00000584943.1_Missense_Mutation_p.I122V	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	237					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GGCACAGACGATCACAGACAC	0.522																																						.											0													95	93	94					17																	8249105		2203	4300	6503	SO:0001583	missense	146852			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.709A>G	17.37:g.8249105A>G	ENSP00000331086:p.Ile237Val		Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	A	5.538	0.284119	0.10513	.	.	ENSG00000184650	ENST00000328248	T	0.22945	1.93	3.42	-5.82	0.02333	.	2.102490	0.02578	N	0.098545	T	0.07818	0.0196	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.20273	-1.0280	10	0.06891	T	0.86	-1.5999	0.3507	0.00348	0.3221:0.1411:0.2745:0.2624	.	237	Q2M2E3	ODFP4_HUMAN	V	237	ENSP00000331086:I237V	ENSP00000331086:I237V	I	+	1	0	ODF4	8189830	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.834000	0.04391	-1.193000	0.02688	-0.371000	0.07208	ATC		0.522	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			G	8249105	A	G	8249105	3	3	55	1	0	0	0	0	1	0	0	0	10833	333	12	4	719	4	ODF4	17	8249105	Missense_Mutation	SNP	A	TCGA-KO-8405-01A-11D-2310-10		8249105	72946105	45	5506											
PLEKHM1	9842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	43523003	43523003	+	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	ggctgggcccggatctgtgtCagaaacttcagggcctgcct	6	9	14	12	1	3	1	2	0	1	1	3	2	3	2	3	4	2	1	3	4	1	1			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr17:43523003C>G	ENST00000430334.3	-	9	2803	c.2670G>C	c.(2668-2670)ctG>ctC	p.L890L	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L801L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	890					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)					GGATCTGTGTCAGAAACTTCA	0.602																																						.											0													64	60	61					17																	43523003		2201	4300	6501	SO:0001819	synonymous_variant	9842			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.2670G>C	17.37:g.43523003C>G			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	CCDS32671.1																																																																																				0.602	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		G	43523003	C	G	43523003	2	3	55	1	0	0	0	0	0	0	0	1	12080	813	29	5		5	PLEKHM1	17	43523003	Silent	SNP	C	TCGA-KO-8405-01A-11D-2310-10	35273898	43523003	37672207	46	5507											
EPN3	55040	mdanderson.org	37	chr17	48619290	48619290	+	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	cagatgcgcaccggctcgccGgcgctgggcctggcaggcgg	4	4	18	15	6	0	1	0	0	0	1	1	1	0	1	3	6	1	4	3	6	0	0	rs112657244	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr17:48619290G>A	ENST00000268933.3	+	10	2250	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	EPN3_ENST00000537145.1_Silent_p.P585P|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	557	3 X 3 AA repeats of N-P-F.					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)			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)			CCGGCTCGCCGGCGCTGGGCC	0.726													G|||	195	0.0389377	0.0038	0.0418	5008	,	,		9711	0.0188		0.0984	False		,,,				2504	0.044					.											0								G		91,4245		4,83,2081	9	12	11		1671	-9.4	0	17	dbSNP_132	11	770,7712		27,716,3498	no	coding-synonymous	EPN3	NM_017957.2		31,799,5579	AA,AG,GG		9.078,2.0987,6.7171		557/633	48619290	861,11957	2168	4241	6409	SO:0001819	synonymous_variant	55040			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.1671G>A	17.37:g.48619290G>A			A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	CCDS11570.1																																																																																				0.726	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48619290	G	A	48619290	2	1	55	1	0	0	0	0	0	0	0	1	5187	1103	39	1		1	EPN3	17	48619290	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10	5096287	48619290	32575920	47	5508											
SSTR2	6752	hgsc.bcm.edu	37	chr17	71166135	71166135	+	Missense_Mutation	SNP	T	T	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	acccctcaccatcatctgtcTttgctacctgttcattatca	8	15	3	15	0	6	0	4	0	2	0	6	0	6	0	4	0	2	2	4	0	2	4			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr17:71166135T>C	ENST00000357585.2	+	2	1046	c.677T>C	c.(676-678)cTt>cCt	p.L226P	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.L226P	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	226					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ATCATCTGTCTTTGCTACCTG	0.502																																						.											0													129	120	123					17																	71166135		2203	4300	6503	SO:0001583	missense	6752				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.677T>C	17.37:g.71166135T>C	ENSP00000350198:p.Leu226Pro		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659722	0.67586	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.39787	1.06;1.06	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.063672	0.64402	D	0.000004	T	0.66626	0.2808	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.71833	-0.4473	10	0.87932	D	0	.	15.5193	0.75854	0.0:0.0:0.0:1.0	.	226	P30874	SSR2_HUMAN	P	226	ENSP00000350198:L226P;ENSP00000326616:L226P	ENSP00000326616:L226P	L	+	2	0	SSTR2	68677730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.147000	0.66899	0.533000	0.62120	CTT		0.502	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			C	71166135	T	C	71166135	3	2	55	1	0	0	0	0	1	0	0	0	15197	1609	56	2	679	2	SSTR2	17	71166135	Missense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10	22546845	71166135	10029075	48	5509											
PRKCSH	5589	hgsc.bcm.edu;mdanderson.org	37	chr19	11558367	11558367	+	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	gaggaggaggaggaggaggaGgaggaagaagaggctgaaga	16	1	23	1	0	0	4	0	1	0	3	0	13	0	12	0	9	0	1	0	9	3	0			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:11558367G>A	ENST00000589838.1	+	10	963	c.963G>A	c.(961-963)gaG>gaA	p.E321E	PRKCSH_ENST00000587327.1_Silent_p.E321E|PRKCSH_ENST00000592741.1_Silent_p.E321E|PRKCSH_ENST00000412601.1_Silent_p.E321E|PRKCSH_ENST00000252455.2_Silent_p.E321E|PRKCSH_ENST00000591462.1_Silent_p.E321E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	321	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						aggaggaggaggaggaagaag	0.632																																						.											1	Deletion - In frame(1)	central_nervous_system(1)											28	28	28					19																	11558367		2200	4298	6498	SO:0001819	synonymous_variant	5589				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.963G>A	19.37:g.11558367G>A			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	11558367	G	A	11558367	2	1	55	1	0	0	0	0	0	0	0	1	12516	991	35	4		4	PRKCSH	19	11558367	Silent	SNP	G	TCGA-KO-8405-01A-11D-2310-10		11558367	47570616	49	5510											
ZNF793	390927	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	38028153	38028153	+	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	tcactgtgagaaagctttcaCccagaacccggcacttatgt	11	10	8	12	1	2	2	2	1	0	2	2	3	2	2	2	1	2	2	2	1	3	2			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:38028153C>G	ENST00000587143.1	+	6	828	c.593C>G	c.(592-594)aCc>aGc	p.T198S	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Missense_Mutation_p.T198S|ZNF793_ENST00000542455.1_Missense_Mutation_p.T198S			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	198					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(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCTTTCACCCAGAACCCG	0.463																																					Melanoma(44;400 1431 1499 19093)	.											0													34	34	34					19																	38028153		1869	4106	5975	SO:0001583	missense	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.593C>G	19.37:g.38028153C>G	ENSP00000468605:p.Thr198Ser		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.516748	0.00151	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.14391	2.51;2.51	4.02	2.94	0.34122	.	0.307194	0.23762	N	0.044815	T	0.03959	0.0111	N	0.02111	-0.68	0.20975	N	0.999816	B	0.02656	0.0	B	0.01281	0.0	T	0.42749	-0.9433	10	0.02654	T	1	.	9.5982	0.39587	0.0:0.2693:0.7307:0.0	.	198	E9PGN4	.	S	198;198;198;197	ENSP00000444355:T198S;ENSP00000396402:T198S	ENSP00000318811:T197S	T	+	2	0	ZNF793	42719993	0.000000	0.05858	0.266000	0.24541	0.069000	0.16628	-1.377000	0.02558	0.981000	0.38548	-0.228000	0.12330	ACC		0.463	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		G	38028153	C	G	38028153	3	3	55	1	0	0	0	0	1	0	0	0	18162	507	18	5	607	5	ZNF793	19	38028153	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	26469786	38028153	21100830	50	5511											
CNTD2	79935	broad.mit.edu	37	chr19	40730638	40730639	+	Frame_Shift_Ins	INS	-	-	C																															agatacctacgtgcacctggINSaccagccagtctaccaccag																								rs199816045		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:40730638_40730639insC	ENST00000430325.2	-	2	395_396	c.347_348insG	c.(346-348)gtcfs	p.V116fs	CNTD2_ENST00000513948.1_Frame_Shift_Ins_p.V10fs|CNTD2_ENST00000433940.1_Intron	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	116	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CGTGCACCTGGACCAGCCAGTC	0.698																																						.											0																																										SO:0001589	frameshift_variant	79935			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"cyclin P"					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.347_348insG	19.37:g.40730638_40730639insC	ENSP00000396755:p.Val116fs		B4DX65	Frame_Shift_Ins	INS	ENST00000430325.2	37	CCDS12551.2																																																																																				0.698	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		C	40730639	-	C	40730638	7	5	55	1	0	1	1	0	0	0	0	0	3636	1161	41	0	591	0	CNTD2	19	40730638	Frame_Shift_Ins	INS	-	TCGA-KO-8405-01A-11D-2310-10	2702485	40730638	18398345	51	5512											
ZNF233	353355	broad.mit.edu	37	chr19	44778459	44778459	+	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	gaagggctttagtcagagttCgcatctccaagaccatcagc	11	9	10	11	1	3	2	2	0	1	2	5	3	3	2	2	1	1	3	2	1	3	3	rs200116301		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:44778459C>T	ENST00000391958.2	+	5	1773	c.1646C>T	c.(1645-1647)tCg>tTg	p.S549L	ZNF233_ENST00000334152.1_Missense_Mutation_p.S531L|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	549					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)				AGTCAGAGTTCGCATCTCCAA	0.468													C|||	1	0.000199681	0	0	5008	,	,		22501	0		0.001	False		,,,				2504	0					.											0								C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	103	93	96		1646,1646	1.6	0	19		96	0,8600		0,0,4300	no	missense,missense	ZNF233	NM_181756.2,NM_001207005.1	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	549/671,549/671	44778459	1,13005	2203	4300	6503	SO:0001583	missense	353355			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.1646C>T	19.37:g.44778459C>T	ENSP00000375820:p.Ser549Leu		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	CCDS33047.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.72	2.619655	0.46736	2.27E-4	0.0	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.07444	3.19;3.19	3.87	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	M	0.77313	2.365	0.09310	N	1	B	0.34181	0.44	B	0.20955	0.032	T	0.09122	-1.0689	9	0.87932	D	0	-2.1334	10.7398	0.46147	0.4941:0.5059:0.0:0.0	.	549	A6NK53	ZN233_HUMAN	L	531;549;444	ENSP00000334957:S531L;ENSP00000375820:S549L	ENSP00000280305:S444L	S	+	2	0	ZNF233	49470299	0.000000	0.05858	0.001000	0.08648	0.841000	0.47740	0.427000	0.21379	0.194000	0.20326	0.609000	0.83330	TCG		0.468	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		T	44778459	C	T	44778459	3	4	55	1	0	0	0	0	1	0	0	0	17783	893	31	1	1660	1	ZNF233	19	44778459	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	4047821	44778459	14350524	52	5513											
LILRB3	11025	mdanderson.org	37	chr19	54724407	54724407	+	Missense_Mutation	SNP	C	C	T																															agcgccctcacctgagaccaCgagctccaggggctcactgg																								rs1132608	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:54724407C>T	ENST00000391750.1	-	7	1385	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	LILRA6_ENST00000270464.5_Missense_Mutation_p.V417M|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.V417M|LILRB3_ENST00000424807.1_Missense_Mutation_p.V417M|LILRB3_ENST00000245620.9_Missense_Mutation_p.V417M|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.V417M|LILRB3_ENST00000407860.2_Missense_Mutation_p.V417M			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	417	Ig-like C2-type 4.			V -> M (in Ref. 1; AAB68668). {ECO:0000305}.	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)		CCTGAGACCACGAGCTCCAGG	0.662													.|||	1775	0.354433	0.1573	0.3213	5008	,	,		7150	0.3919		0.4056	False		,,,				2504	0.5532					.											0													22	12	16					19																	54724407		2016	2580	4596	SO:0001583	missense	11025			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.1249G>A	19.37:g.54724407C>T	ENSP00000375630:p.Val417Met		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	1066	0.4880952380952381	88	0.17886178861788618	202	0.5580110497237569	349	0.6101398601398601	427	0.5633245382585752	T	5.640	0.302776	0.10678	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464	T;T;T;T;T;T;T	0.00848	5.62;5.62;5.62;5.62;5.62;5.62;5.62	2.88	-5.77	0.02369	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.499180	0.01074	N	0.004874	T	0.00012	0.0000	L	0.53671	1.685	0.80722	P	0.0	B;B;B;P;P;B	0.51147	0.134;0.21;0.362;0.942;0.496;0.426	B;B;B;B;B;B	0.43680	0.063;0.058;0.177;0.427;0.081;0.086	T	0.41088	-0.9528	9	0.33940	T	0.23	.	6.447	0.21882	0.0:0.2001:0.3624:0.4374	rs1132608;rs2261471;rs58860234	417;417;417;417;417;417	B5MCX0;F8WCY4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;LIRB3_HUMAN;.	M	417	ENSP00000375630:V417M;ENSP00000412771:V417M;ENSP00000345184:V417M;ENSP00000245620:V417M;ENSP00000384274:V417M;ENSP00000390120:V417M;ENSP00000270464:V417M	ENSP00000270464:V417M	V	-	1	0	LILRB3;LILRA6	59416219	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.372000	0.00244	-2.411000	0.00571	-2.477000	0.00200	GTG		0.662	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		T	54724407	C	T	54724407	3	4	55	1	0	0	0	0	1	0	0	0	8792	536	19	1	681	1	LILRB3	19	54724407	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	9945948	54724407	4404576	53	5514	142	2									
LILRB3	11025	mdanderson.org	37	chr19	54724411	54724411	+	Silent	SNP	C	C	T																															ccctcacctgagaccacgagCtccaggggctcactggggtg																								rs1132607	byFrequency	TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr19:54724411C>T	ENST00000391750.1	-	7	1381	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	LILRA6_ENST00000270464.5_Silent_p.E415E|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Silent_p.E415E|LILRB3_ENST00000424807.1_Silent_p.E415E|LILRB3_ENST00000245620.9_Silent_p.E415E|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Silent_p.E415E|LILRB3_ENST00000407860.2_Silent_p.E415E			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	415	Ig-like C2-type 4.				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)		AGACCACGAGCTCCAGGGGCT	0.657													.|||	1334	0.266374	0.1536	0.2536	5008	,	,		6892	0.378		0.3091	False		,,,				2504	0.2689					.											0													21	13	17					19																	54724411		1977	2343	4320	SO:0001819	synonymous_variant	11025			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.1245G>A	19.37:g.54724411C>T			C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.657	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		T	54724411	C	T	54724411	2	4	55	1	0	0	0	0	0	0	0	1	8792	796	28	4		4	LILRB3	19	54724411	Silent	SNP	C	TCGA-KO-8405-01A-11D-2310-10	4	54724411	4404572	54	5515	142	2									
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147203	33147203	+	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	gctgcccgtcctggacaagaCcaagtttttggtcccggacc	7	9	11	14	2	0	1	0	0	0	1	2	3	2	3	5	3	1	2	5	3	2	2			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chr20:33147203C>T	ENST00000360668.3	+	3	910	c.149C>T	c.(148-150)aCc>aTc	p.T50I	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.T54I|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.T50I			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	50					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CTGGACAAGACCAAGTTTTTG	0.652																																						.											0													44	45	44					20																	33147203		2201	4296	6497	SO:0001583	missense	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.149C>T	20.37:g.33147203C>T	ENSP00000353886:p.Thr50Ile		E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051111	0.75960	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.44083	0.93;0.93;0.93	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.70595	2.14	0.80722	D	1	B;D	0.69078	0.06;0.997	B;D	0.65987	0.116;0.94	T	0.67681	-0.5608	10	0.66056	D	0.02	-1.7041	18.0581	0.89369	0.0:1.0:0.0:0.0	.	50;54	Q9H492;Q9H492-2	MLP3A_HUMAN;.	I	54;50;50	ENSP00000363970:T54I;ENSP00000353886:T50I;ENSP00000380821:T50I	ENSP00000353886:T50I	T	+	2	0	MAP1LC3A	32610864	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.013000	0.70776	2.357000	0.79964	0.313000	0.20887	ACC		0.652	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		T	33147203	C	T	33147203	3	4	55	1	0	0	0	0	1	0	0	0	9230	507	18	3	215	3	MAP1LC3A	20	33147203	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10		33147203	29878317	55	5516											
CXorf23	256643	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	19983778	19983778	+	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	cctctccacgtctttaggtcTttttgatgtgtgtccatatt	5	19	7	10	1	3	1	0	1	3	0	5	1	4	1	3	1	0	0	3	1	2	6			TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chrX:19983778T>A	ENST00000379682.4	-	3	691	c.658A>T	c.(658-660)Aga>Tga	p.R220*	CXorf23_ENST00000379687.3_Nonsense_Mutation_p.R220*|CXorf23_ENST00000356980.3_Nonsense_Mutation_p.R220*			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	220						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTTTAGGTCTTTTTGATGTG	0.453																																						.											0													170	149	156					X																	19983778		1907	4124	6031	SO:0001587	stop_gained	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.658A>T	X.37:g.19983778T>A	ENSP00000369004:p.Arg220*		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Nonsense_Mutation	SNP	ENST00000379682.4	37		.	.	.	.	.	.	.	.	.	.	T	38	7.199527	0.98129	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0846	0.72142	0.0:0.0:0.0:1.0	.	.	.	.	X	220;220;220;108	.	.	R	-	1	2	CXorf23	19893699	1.000000	0.71417	0.948000	0.38648	0.984000	0.73092	5.464000	0.66719	1.945000	0.56424	0.446000	0.29264	AGA		0.453	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		A	19983778	T	A	19983778	4	1	55	1	0	0	0	0	0	1	0	0	4103	1617	56	5	1426	5	CXorf23	23	19983778	Nonsense_Mutation	SNP	T	TCGA-KO-8405-01A-11D-2310-10		19983778	135286782	56	5517											
RLIM	51132	mdanderson.org	37	chrX	73811737	73811737	+	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	ctaggactggaactggaactTgaactggaactggaactcga	13	8	12	8	1	0	1	0	1	0	0	1	7	0	6	0	5	5	0	0	5	6	2	rs113198776		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chrX:73811737T>A	ENST00000332687.6	-	4	1631	c.1413A>T	c.(1411-1413)tcA>tcT	p.S471S	RLIM_ENST00000349225.2_Silent_p.S471S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	471	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						aactggaacttgaactggaac	0.478																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	.											0													38	38	38					X																	73811737		2203	4300	6503	SO:0001819	synonymous_variant	51132			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.1413A>T	X.37:g.73811737T>A			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.478	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		A	73811737	T	A	73811737	2	1	55	1	0	0	0	0	0	0	0	1	13390	1799	63	5		5	RLIM	23	73811737	Silent	SNP	T	TCGA-KO-8405-01A-11D-2310-10	53827959	73811737	81458823	57	5518											
MAGEC1	9947	mdanderson.org	37	chrX	140994010	140994010	+	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	ctctccagattcctgtgagcCcctccttctcctccacttta	5	14	4	18	0	2	2	0	1	2	1	7	2	5	2	7	0	1	0	7	0	1	4	rs146798989		TCGA-KO-8405-01A-11D-2310-10	TCGA-KO-8405-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	6400c324-2c94-477d-acb9-669d4ea46f1e	43634c4d-e2ed-4b39-bac2-474388af50e5	g.chrX:140994010C>T	ENST00000285879.4	+	4	1106	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	274				P -> R (in Ref. 1 and 2). {ECO:0000305}.						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)					TCCTGTGAGCCCCTCCTTCTC	0.483										HNSCC(15;0.026)			-|||	3	0.000794702	0.0015	0	3775	,	,		12386	0		0	False		,,,				2504	0.001					.											0													88	74	79					X																	140994010		2131	3945	6076	SO:0001583	missense	9947			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.820C>T	X.37:g.140994010C>T	ENSP00000285879:p.Pro274Ser		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	80	0.04822182037371911	22	0.045081967213114756	24	0.06741573033707865	15	0.026501766784452298	26	0.03430079155672823	t	0.006	-2.096041	0.00364	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.10573	4.35;2.86	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	P	0.36222	0.544	B	0.23150	0.044	T	0.34850	-0.9812	7	0.06757	T	0.87	.	.	.	.	rs57859161	274	O60732	MAGC1_HUMAN	S	274;76;75	ENSP00000285879:P274S;ENSP00000359542:P76S	ENSP00000285879:P274S	P	+	1	0	MAGEC1	140821676	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-4.502000	0.00224	-1.665000	0.01477	-1.695000	0.00724	CCC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994010	C	T	140994010	3	4	55	1	0	0	0	0	1	0	0	0	9180	623	22	3	826	3	MAGEC1	23	140994010	Missense_Mutation	SNP	C	TCGA-KO-8405-01A-11D-2310-10	67182273	140994010	14276550	58	5519											
NUDC	10726	hgsc.bcm.edu	37	chr1	27268032	27268033	+	In_Frame_Ins	INS	-	-	GGG																															ccggcaggaggccgagcggcINSgggagaaggcggagcgggcg																								rs374895246		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:27268032_27268033insGGG	ENST00000321265.5	+	3	367_368	c.244_245insGGG	c.(244-246)cgg>cGGGgg	p.82_83insG		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	82					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCCGAGCGGCGGGAGAAGGCG	0.614																																						.											0																																										SO:0001652	inframe_insertion	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.245_247dupGGG	1.37:g.27268033_27268035dupGGG	ENSP00000319664:p.Arg82_Glu83insGly		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	In_Frame_Ins	INS	ENST00000321265.5	37	CCDS292.1																																																																																				0.614	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			GGG	27268033	-	GGG	27268032	7	5	56	1	0	1	1	0	0	0	0	0	10721	759	27	0	254	0	NUDC	1	27268032	In_Frame_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10		27268032	221982589	1	5520											
TOE1	114034	broad.mit.edu	37	chr1	45808598	45808598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatccttccagcatgagggAccatattgattaccgctgct	9	12	8	12	1	0	2	0	2	0	0	2	3	2	3	4	1	3	3	4	1	3	5			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:45808598A>G	ENST00000372090.5	+	7	1419	c.836A>G	c.(835-837)gAc>gGc	p.D279G	MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000528013.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372104.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.D199G|MUTYH_ENST00000529984.1_5'Flank|TESK2_ENST00000486676.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	279						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					AGCATGAGGGACCATATTGAT	0.572																																						.											0													71	76	74					1																	45808598		2203	4300	6503	SO:0001583	missense	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.836A>G	1.37:g.45808598A>G	ENSP00000361162:p.Asp279Gly		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	CCDS521.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653290	0.14580	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.30714	1.52;1.53	5.61	2.55	0.30701	Ribonuclease H-like (1);	1.049460	0.07309	N	0.875532	T	0.17408	0.0418	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.29792	-1.0000	10	0.21014	T	0.42	0.2034	12.4584	0.55718	0.1157:0.508:0.3763:0.0	.	199;279	B4DEM6;Q96GM8	.;TOE1_HUMAN	G	279;199	ENSP00000361162:D279G;ENSP00000438900:D199G	ENSP00000361162:D279G	D	+	2	0	TOE1	45581185	0.000000	0.05858	0.739000	0.30968	0.953000	0.61014	-0.037000	0.12164	0.341000	0.23771	-0.168000	0.13345	GAC		0.572	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		G	45808598	A	G	45808598	3	3	56	1	0	0	0	0	1	0	0	0	16346	275	10	2	862	2	TOE1	1	45808598	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	18540566	45808598	203442023	2	5521											
XCL1	6375	broad.mit.edu	37	chr1	168550330	168550330	+	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	taaaagtctgtgctgatccaCaagccacatgggtgagagac	13	8	11	9	0	1	3	0	2	1	1	2	4	2	3	2	1	2	1	2	1	3	1			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:168550330C>A	ENST00000367818.3	+	3	382	c.217C>A	c.(217-219)Caa>Aaa	p.Q73K		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	73					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|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-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TGCTGATCCACAAGCCACATG	0.483																																						.											0													196	180	185					1																	168550330		2203	4300	6503	SO:0001583	missense	6375			D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.217C>A	1.37:g.168550330C>A	ENSP00000356792:p.Gln73Lys		Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	C	7.368	0.626277	0.14257	.	.	ENSG00000143184	ENST00000367818	T	0.03951	3.75	4.83	-9.64	0.00541	Chemokine interleukin-8-like domain (3);	1.098330	0.06925	N	0.810057	T	0.00784	0.0026	N	0.12853	0.265	0.25698	N	0.985611	B	0.17268	0.021	B	0.15052	0.012	T	0.47341	-0.9125	9	0.06099	T	0.92	0.2196	19.3302	0.94283	0.0965:0.1385:0.765:0.0	.	73	P47992	XCL1_HUMAN	K	73	ENSP00000356792:Q73K	ENSP00000356792:Q73K	Q	+	1	0	XCL1	166816954	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-1.260000	0.02858	-1.502000	0.01814	0.655000	0.94253	CAA		0.483	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		A	168550330	C	A	168550330	3	1	56	1	0	0	0	0	1	0	0	0	17420	479	17	5	227	5	XCL1	1	168550330	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	122741732	168550330	80700291	3	5522											
C1orf106	55765	mdanderson.org	37	chr1	200880978	200880978	+	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	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	3	4	17	17	6	0	0	0	0	0	0	0	2	0	1	5	3	3	2	5	3	0	0	rs296520	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753					.											0								T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	56	1	0	0	0	0	1	0	0	0	1980	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	32330648	200880978	48369643	4	5523											
CD55	1604	bcgsc.ca	37	chr1	207510059	207510059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctctaacttccaaggTcccaccaacagttcagaaac	16	8	4	13	0	2	1	1	0	1	1	5	1	4	1	3	1	3	1	3	1	6	3			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr1:207510059T>C	ENST00000367064.3	+	7	1133	c.875T>C	c.(874-876)gTc>gCc	p.V292A	CD55_ENST00000391920.4_Missense_Mutation_p.V292A|CD55_ENST00000367063.2_Missense_Mutation_p.V292A|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.V292A|CD55_ENST00000367065.5_Missense_Mutation_p.V292A|CD55_ENST00000391921.4_Missense_Mutation_p.V228A|CD55_ENST00000367062.4_Missense_Mutation_p.V292A|CD55_ENST00000367067.4_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	292	Ser/Thr-rich.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACTTCCAAGGTCCCACCAACA	0.408																																						.											0													164	157	159					1																	207510059		2203	4300	6503	SO:0001583	missense	1604			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.875T>C	1.37:g.207510059T>C	ENSP00000356031:p.Val292Ala		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	CCDS31006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.626|1.626	-0.520334|-0.520334	0.04171|0.04171	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	.|T;T;T;T;T;T;T	.|0.36157	.|1.32;1.52;1.71;1.44;1.41;1.27;1.3	4.39|4.39	-2.22|-2.22	0.06952|0.06952	.|.	.|2.417300	.|0.01718	.|N	.|0.028155	T|T	0.21674|0.21674	0.0522|0.0522	N|N	0.02296|0.02296	-0.605|-0.605	0.09310|0.09310	N|N	0.999995|0.999995	.|B;P;B;B;B;B	.|0.40970	.|0.005;0.734;0.0;0.001;0.0;0.001	.|B;P;B;B;B;B	.|0.51550	.|0.003;0.673;0.001;0.006;0.001;0.003	T|T	0.17440|0.17440	-1.0369|-1.0369	5|10	.|0.08599	.|T	.|0.76	.|.	4.9011|4.9011	0.13775|0.13775	0.0:0.3138:0.1619:0.5243|0.0:0.3138:0.1619:0.5243	.|.	.|292;228;292;292;292;292	.|Q14UF6;B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.|.;.;.;.;DAF_HUMAN;.	P|A	302|292;292;228;228;292;292;292;292	.|ENSP00000356031:V292A;ENSP00000356030:V292A;ENSP00000375788:V228A;ENSP00000316333:V292A;ENSP00000356032:V292A;ENSP00000375787:V292A;ENSP00000356029:V292A	.|ENSP00000316333:V292A	S|V	+|+	1|2	0|0	CD55|CD55	205576682|205576682	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-3.047000|-3.047000	0.00630|0.00630	-0.436000|-0.436000	0.07254|0.07254	-0.381000|-0.381000	0.06696|0.06696	TCC|GTC		0.408	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		C	207510059	T	C	207510059	3	2	56	1	0	0	0	0	1	0	0	0	3024	1667	58	2	901	2	CD55	1	207510059	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	6629081	207510059	41740562	5	5524											
MTHFD2	10797	hgsc.bcm.edu;bcgsc.ca	37	chr2	74438938	74438938	+	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	attgatgtgggaataaatagAgttcacgatcctgtaactgc	13	12	10	6	1	1	2	1	1	0	1	2	4	2	3	1	1	2	2	1	1	5	5			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr2:74438938A>T	ENST00000394053.2	+	7	914	c.834A>T	c.(832-834)agA>agT	p.R278S	MTHFD2_ENST00000409804.1_Missense_Mutation_p.R150S|MTHFD2_ENST00000264090.4_Missense_Mutation_p.R176S|MTHFD2_ENST00000409601.1_Intron|MTHFD2_ENST00000394050.3_Missense_Mutation_p.R114S|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	278					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GAATAAATAGAGTTCACGATC	0.353																																						.											0													81	76	78					2																	74438938		1889	4102	5991	SO:0001583	missense	10797			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.834A>T	2.37:g.74438938A>T	ENSP00000377617:p.Arg278Ser		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531909	0.64972	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.54	4.41	0.53225	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.78285	2.405	0.58432	D	0.999996	D	0.76494	0.999	D	0.70716	0.97	T	0.72663	-0.4225	10	0.72032	D	0.01	.	3.472	0.07570	0.6287:0.2366:0.1347:0.0	.	278	P13995	MTDC_HUMAN	S	278;150;176;114	ENSP00000377617:R278S;ENSP00000386536:R150S;ENSP00000264090:R176S;ENSP00000377614:R114S	ENSP00000264090:R176S	R	+	3	2	MTHFD2	74292446	0.990000	0.36364	0.988000	0.46212	0.819000	0.46315	0.550000	0.23345	2.096000	0.63516	0.529000	0.55759	AGA		0.353	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			T	74438938	A	T	74438938	3	4	56	1	0	0	0	0	1	0	0	0	9929	301	11	5	860	5	MTHFD2	2	74438938	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10		74438938	168760435	6	5525											
ATF2	1386	ucsc.edu	37	chr2	175986170	175986170	+	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	attaataaaagcatatactaAccagccacaatgacactgtc	18	9	4	10	0	0	1	0	1	0	0	1	1	0	1	2	0	4	1	2	0	7	5			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr2:175986170A>C	ENST00000264110.2	-	5	498		c.e5+1		ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000345739.5_Intron|ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000409635.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000409437.1_Splice_Site|ATF2_ENST00000487334.2_Splice_Site	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						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)	GCATATACTAACCAGCCACAA	0.353																																					Pancreas(17;87 705 4534 15538 30988)	.											0													84	81	82					2																	175986170		2203	4299	6502	SO:0001630	splice_region_variant	1386			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.199+1T>G	2.37:g.175986170A>C			A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Splice_Site	SNP	ENST00000264110.2	37	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262883	0.80358	.	.	ENSG00000115966	ENST00000264110;ENST00000409437;ENST00000435004;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000409833	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5615	0.76253	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATF2	175694416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.320000	0.96346	2.073000	0.62155	0.482000	0.46254	.		0.353	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880	Intron	C	175986170	A	C	175986170	5	2	56	1	0	0	0	0	0	0	1	0	1080	57	2	5	1356	5	ATF2	2	175986170	Splice_Site	SNP	A	TCGA-KO-8406-01A-11D-2310-10	101547232	175986170	67213203	7	5526											
COL6A3	1293	mdanderson.org;bcgsc.ca	37	chr2	238269781	238269781	+	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	tacgggtccaccctcatcacCaggatagcctcggtagccgt	8	8	10	15	3	2	0	2	0	0	0	4	1	3	1	5	3	3	1	5	3	3	3	rs397515332		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr2:238269781C>T	ENST00000295550.4	-	16	6645	c.6193G>A	c.(6193-6195)Ggt>Agt	p.G2065S	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1458S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1864S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1859S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1865S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1859S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2065	Collagen-like 1.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCTCATCACCAGGATAGCCT	0.448																																						.											0													88	87	87					2																	238269781		2203	4300	6503	SO:0001583	missense	1293			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.6193G>A	2.37:g.238269781C>T	ENSP00000295550:p.Gly2065Ser		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457244	0.43634	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99527	-5.12;-6.09;-6.09;-6.09;-6.09;-6.09	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000069	D	0.99718	0.9891	H	0.96015	3.755	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	0.97373	0.9977	10	0.66056	D	0.02	.	18.8129	0.92065	0.0:1.0:0.0:0.0	.	1458;1859;2065	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	S	2065;1864;1859;1458;1859;1865	ENSP00000295550:G2065S;ENSP00000315609:G1864S;ENSP00000315873:G1859S;ENSP00000418285:G1458S;ENSP00000386844:G1859S;ENSP00000295546:G1865S	ENSP00000295550:G2065S	G	-	1	0	COL6A3	237934520	1.000000	0.71417	0.389000	0.26208	0.491000	0.33493	7.291000	0.78721	2.437000	0.82529	0.655000	0.94253	GGT		0.448	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238269781	C	T	238269781	3	4	56	1	0	0	0	0	1	0	0	0	3701	594	21	4	3456	4	COL6A3	2	238269781	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	62283611	238269781	4929592	8	5527											
KIAA2018	205717	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	113375013	113375013	+	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	tattcctctgatgttctgagAgtgacctctggctcccaatg	7	14	9	11	0	3	3	0	3	3	1	5	4	5	3	3	1	0	2	3	1	2	3			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr3:113375013A>T	ENST00000478658.1	-	5	5533	c.5516T>A	c.(5515-5517)cTc>cAc	p.L1839H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.L1839H			Q68DE3	K2018_HUMAN	KIAA2018	1839						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						ATGTTCTGAGAGTGACCTCTG	0.443																																						.											0													97	95	96					3																	113375013		1979	4175	6154	SO:0001583	missense	205717			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.5516T>A	3.37:g.113375013A>T	ENSP00000420721:p.Leu1839His		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318679	0.60524	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.19532	2.14;2.14	5.91	5.91	0.95273	.	0.222346	0.31922	N	0.006858	T	0.27900	0.0687	N	0.14661	0.345	0.38952	D	0.958378	D	0.71674	0.998	P	0.60173	0.87	T	0.20974	-1.0259	10	0.87932	D	0	-8.4007	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1839	Q68DE3	K2018_HUMAN	H	1839	ENSP00000320794:L1839H;ENSP00000420721:L1839H	ENSP00000320794:L1839H	L	-	2	0	KIAA2018	114857703	.	.	1.000000	0.80357	0.996000	0.88848	.	.	2.261000	0.74972	0.533000	0.62120	CTC		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113375013	A	T	113375013	3	4	56	1	0	0	0	0	1	0	0	0	8268	304	11	5	1225	5	KIAA2018	3	113375013	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10		113375013	84647417	9	5528											
CCDC37	348807	broad.mit.edu	37	chr3	126142182	126142183	+	Frame_Shift_Ins	INS	-	-	C																															cgcaggtcgaactctcccatINScccccccacgcaggaggaca																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr3:126142182_126142183insC	ENST00000352312.1	+	12	1196_1197	c.1097_1098insC	c.(1096-1101)atccccfs	p.IP366fs	CCDC37_ENST00000505024.1_Frame_Shift_Ins_p.IP367fs|CCDC37_ENST00000393425.1_Frame_Shift_Ins_p.IP367fs	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	366								p.T369fs*36(1)		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)		AACTCTCCCATCCCCCCCACGC	0.653																																						.											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	348807			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.1104dupC	3.37:g.126142189_126142189dupC	ENSP00000344749:p.Ile366fs		D3DNA8|Q494V1|Q494V4|Q8N838	Frame_Shift_Ins	INS	ENST00000352312.1	37	CCDS3037.1																																																																																				0.653	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		C	126142183	-	C	126142182	7	5	56	1	0	1	1	0	0	0	0	0	2809	1435	50	0	1139	0	CCDC37	3	126142182	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	12767169	126142182	71880248	10	5529											
GFM1	85476	broad.mit.edu	37	chr3	158362472	158362473	+	Frame_Shift_Ins	INS	-	-	C																															ggctctggggcgcggaagggINScccccgcctccctaggctgg																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr3:158362472_158362473insC	ENST00000486715.1	+	1	406_407	c.49_50insC	c.(49-51)gccfs	p.A17fs	GFM1_ENST00000264263.5_Frame_Shift_Ins_p.A17fs|GFM1_ENST00000478576.1_Frame_Shift_Ins_p.A17fs	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)			GCGCGGAAGGGCCCCCGCCTCC	0.649											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001589	frameshift_variant	85476			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.54dupC	3.37:g.158362477_158362477dupC	ENSP00000419038:p.Ala17fs	1793		Frame_Shift_Ins	INS	ENST00000486715.1	37	CCDS33885.1																																																																																				0.649	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		C	158362473	-	C	158362472	7	5	56	1	0	1	1	0	0	0	0	0	6341	1203	42	0	51	0	GFM1	3	158362472	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	32220290	158362472	39659958	11	5530											
PPP1R2	5504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	195256683	195256683	+	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	cgccaagatgttcatttcatCccacttctgggattttttgc	7	16	7	11	1	3	1	2	0	1	1	4	2	4	2	2	1	1	1	2	1	1	6			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr3:195256683C>T	ENST00000328432.3	-	2	502	c.142G>A	c.(142-144)Gat>Aat	p.D48N		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	48	Required for binding PPP1CC. {ECO:0000250}.				generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TTCATTTCATCCCACTTCTGG	0.333																																						.											0													99	88	92					3																	195256683		2203	4300	6503	SO:0001583	missense	5504			U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.142G>A	3.37:g.195256683C>T	ENSP00000328178:p.Asp48Asn			Missense_Mutation	SNP	ENST00000328432.3	37	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269708	0.95429	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.86097	2.795	0.80722	D	1	D;D	0.76494	0.988;0.999	P;D	0.69654	0.836;0.965	D	0.84595	0.0669	9	0.59425	D	0.04	.	18.1336	0.89610	0.0:1.0:0.0:0.0	.	48;48	E7EMN6;P41236	.;IPP2_HUMAN	N	48	.	ENSP00000328178:D48N	D	-	1	0	PPP1R2	196737972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.183000	0.77697	2.880000	0.98712	0.650000	0.86243	GAT		0.333	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		T	195256683	C	T	195256683	3	4	56	1	0	0	0	0	1	0	0	0	12370	855	30	3	495	3	PPP1R2	3	195256683	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	36894211	195256683	2765747	12	5531											
ZNF732	654254	mdanderson.org	37	chr4	289864	289864	+	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	tccaacatcacatctctataCaaattctgctgggcagggtc	11	11	7	12	0	3	0	1	0	2	0	6	0	4	0	1	2	3	2	1	2	4	3			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289864C>T	ENST00000419098.1	-	2	94	c.84G>A	c.(82-84)ttG>ttA	p.L28L		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						CATCTCTATACAAATTCTGCT	0.408																																						.											0													32	32	32					4																	289864		692	1591	2283	SO:0001819	synonymous_variant	654254			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.84G>A	4.37:g.289864C>T				Silent	SNP	ENST00000419098.1	37	CCDS46990.1																																																																																				0.408	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		T	289864	C	T	289864	2	4	56	1	0	0	0	0	0	0	0	1	18120	477	17	4		4	ZNF732	4	289864	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10		289864	190864412	13	5532			1	43		5	3	65	N	G_C	1.214961e-08
ZNF732	654254	mdanderson.org	37	chr4	289878	289878	+	Missense_Mutation	SNP	C	C	A																															tctatacaaattctgctgggCagggtccaggcatttccact																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289878C>A	ENST00000419098.1	-	2	80	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTCTGCTGGGCAGGGTCCAGG	0.418																																						.											0													33	32	32					4																	289878		692	1590	2282	SO:0001583	missense	654254			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.70G>T	4.37:g.289878C>A	ENSP00000415774:p.Ala24Ser			Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	3.894	-0.023332	0.07634	.	.	ENSG00000186777	ENST00000419098	T	0.02258	4.37	1.22	-2.43	0.06522	Krueppel-associated box (4);	.	.	.	.	T	0.03263	0.0095	M	0.65677	2.01	0.09310	N	1	B	0.32350	0.366	B	0.37692	0.256	T	0.36939	-0.9727	9	0.42905	T	0.14	.	2.9027	0.05711	0.0:0.4666:0.2847:0.2487	.	24	B4DXR9	ZN732_HUMAN	S	24	ENSP00000415774:A24S	ENSP00000415774:A24S	A	-	1	0	ZNF732	279878	0.000000	0.05858	0.085000	0.20634	0.087000	0.18053	-1.157000	0.03157	-0.694000	0.05113	-0.680000	0.03767	GCC		0.418	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		A	289878	C	A	289878	3	1	56	1	0	0	0	0	1	0	0	0	18120	710	25	5	1699	5	ZNF732	4	289878	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	14	289878	190864398	14	5533	143	3	1	43		5	3	65	N	G_C	1.214961e-08
ZNF732	654254	mdanderson.org	37	chr4	289881	289881	+	Missense_Mutation	SNP	G	G	T																															atacaaattctgctgggcagGgtccaggcatttccactctt																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289881G>T	ENST00000419098.1	-	2	77	c.67C>A	c.(67-69)Cct>Act	p.P23T		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TGCTGGGCAGGGTCCAGGCAT	0.413																																						.											0													35	33	34					4																	289881		692	1590	2282	SO:0001583	missense	654254			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.67C>A	4.37:g.289881G>T	ENSP00000415774:p.Pro23Thr			Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.337467	0.00224	.	.	ENSG00000186777	ENST00000419098	T	0.02472	4.28	1.22	1.22	0.21188	Krueppel-associated box (4);	.	.	.	.	T	0.02888	0.0086	L	0.56340	1.77	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.49771	-0.8904	9	0.08599	T	0.76	.	5.3307	0.15930	0.0:0.0:1.0:0.0	.	23	B4DXR9	ZN732_HUMAN	T	23	ENSP00000415774:P23T	ENSP00000415774:P23T	P	-	1	0	ZNF732	279881	0.000000	0.05858	0.122000	0.21767	0.125000	0.20455	-0.620000	0.05565	0.300000	0.22699	0.305000	0.20034	CCT		0.413	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		T	289881	G	T	289881	3	4	56	1	0	0	0	0	1	0	0	0	18120	1232	43	5	1702	5	ZNF732	4	289881	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	3	289881	190864395	15	5534	143	3	1	43		5	3	65	N	G_C	1.214961e-08
ZNF732	654254	mdanderson.org	37	chr4	289888	289888	+	Silent	SNP	G	G	A																															ttctgctgggcagggtccagGcatttccactcttctggaga																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289888G>A	ENST00000419098.1	-	2	70	c.60C>T	c.(58-60)tgC>tgT	p.C20C		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						CAGGGTCCAGGCATTTCCACT	0.403																																						.											0													35	33	34					4																	289888		692	1590	2282	SO:0001819	synonymous_variant	654254			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.60C>T	4.37:g.289888G>A				Silent	SNP	ENST00000419098.1	37	CCDS46990.1																																																																																				0.403	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		A	289888	G	A	289888	2	1	56	1	0	0	0	0	0	0	0	1	18120	1195	42	3		3	ZNF732	4	289888	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10	7	289888	190864388	16	5535	143	3	1	43		5	3	65	N	G_C	1.214961e-08
ZNF732	654254	mdanderson.org	37	chr4	289928	289928	+	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	agaattctatggccacatccCtgaatgttaagagttcctga	12	12	8	9	0	1	4	0	2	1	2	3	4	3	4	3	1	0	2	3	1	4	4			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:289928C>T	ENST00000419098.1	-	2	30	c.20G>A	c.(19-21)aGg>aAg	p.R7K		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						GGCCACATCCCTGAATGTTAA	0.403																																						.											0													30	27	28					4																	289928		692	1591	2283	SO:0001583	missense	654254			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.20G>A	4.37:g.289928C>T	ENSP00000415774:p.Arg7Lys			Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600030	0.46318	.	.	ENSG00000186777	ENST00000419098	T	0.01369	4.97	1.22	0.0332	0.14179	Krueppel-associated box (4);	.	.	.	.	T	0.00998	0.0033	N	0.17723	0.515	0.09310	N	1	P	0.34615	0.459	B	0.35114	0.196	T	0.49021	-0.8982	9	0.19590	T	0.45	.	3.811	0.08796	0.0:0.6812:0.0:0.3188	.	7	B4DXR9	ZN732_HUMAN	K	7	ENSP00000415774:R7K	ENSP00000415774:R7K	R	-	2	0	ZNF732	279928	0.652000	0.27349	0.849000	0.33467	0.849000	0.48306	-1.168000	0.03123	0.300000	0.22699	0.305000	0.20034	AGG		0.403	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		T	289928	C	T	289928	3	4	56	1	0	0	0	0	1	0	0	0	18120	681	24	4	1749	4	ZNF732	4	289928	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	40	289928	190864348	17	5536			1	43		5	3	65	N	G_C	1.214961e-08
HNRPDL	9987	broad.mit.edu	37	chr4	83350758	83350759	+	Frame_Shift_Ins	INS	-	-	C																															cggcggccgcggccgccaatINSgggagaggctgcgggaggct																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:83350758_83350759insC	ENST00000295470.5	-	1	260_261	c.85_86insG	c.(85-87)catfs	p.H29fs	HNRNPDL_ENST00000602300.1_5'Flank|HNRNPDL_ENST00000514511.1_5'Flank|HNRNPDL_ENST00000349655.4_5'Flank|HNRNPDL_ENST00000502762.1_Frame_Shift_Ins_p.H29fs|ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	29					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										cggccgccAATGGGAGAGGCTG	0.757																																						.											0																																										SO:0001589	frameshift_variant	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.85_86insG	4.37:g.83350758_83350759insC	ENSP00000295470:p.His29fs		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Frame_Shift_Ins	INS	ENST00000295470.5	37	CCDS3593.1																																																																																				0.757	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		C	83350759	-	C	83350758	7	5	56	1	0	1	1	0	0	0	0	0	7276	1464	51	0	1204	0	HNRPDL	4	83350758	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	83060830	83350758	107803518	18	5537	144	2									
HNRPDL	9987	broad.mit.edu	37	chr4	83350764	83350764	+	Frame_Shift_Del	DEL	A	A	-																															gccgcggccgccaatgggagAggctgcgggaggctaaagta																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:83350764delA	ENST00000295470.5	-	1	255	c.80delT	c.(79-81)ctcfs	p.L27fs	HNRNPDL_ENST00000602300.1_5'Flank|HNRNPDL_ENST00000514511.1_5'Flank|HNRNPDL_ENST00000349655.4_5'Flank|HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.L27fs|ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	27					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										ccAATGGGAGAGGCTGCGGGA	0.756																																						.											0													4	7	6					4																	83350764		1544	3554	5098	SO:0001589	frameshift_variant	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.80delT	4.37:g.83350764delA	ENSP00000295470:p.Leu27fs		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Frame_Shift_Del	DEL	ENST00000295470.5	37	CCDS3593.1																																																																																				0.756	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		-	83350764	A	-	83350764	7	5	56	1	0	1	0	1	0	0	0	0	7276	304	11	0	1210	0	HNRPDL	4	83350764	Frame_Shift_Del	DEL	A	TCGA-KO-8406-01A-11D-2310-10	6	83350764	107803512	19	5538	144	2									
NAA15	80155	mdanderson.org	37	chr4	140272727	140272727	+	Missense_Mutation	SNP	T	T	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	gcaagggttgcccaccagtcTtcaatactttaagatcatta	12	12	7	10	0	3	1	2	0	1	1	3	1	3	1	2	1	2	2	2	1	5	6			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr4:140272727T>C	ENST00000296543.5	+	9	1299	c.976T>C	c.(976-978)Ttc>Ctc	p.F326L	NAA15_ENST00000398947.1_Missense_Mutation_p.F326L|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	326					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						CCCACCAGTCTTCAATACTTT	0.328																																						.											0													103	102	102					4																	140272727		1811	4082	5893	SO:0001583	missense	80155			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.976T>C	4.37:g.140272727T>C	ENSP00000296543:p.Phe326Leu		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	T	35	5.482153	0.96307	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.58358	0.34;0.34	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85343	0.1097	10	0.72032	D	0.01	-9.7091	16.3786	0.83431	0.0:0.0:0.0:1.0	.	326	Q9BXJ9	NAA15_HUMAN	L	326;200;326	ENSP00000296543:F326L;ENSP00000381920:F326L	ENSP00000296543:F326L	F	+	1	0	NAA15	140492177	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	2.269000	0.75478	0.454000	0.30748	TTC		0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		C	140272727	T	C	140272727	3	2	56	1	0	0	0	0	1	0	0	0	10118	1609	56	2	1010	2	NAA15	4	140272727	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	56921963	140272727	50881549	20	5539											
HAPLN1	1404	broad.mit.edu	37	chr5	82940353	82940354	+	Frame_Shift_Ins	INS	-	-	C																															ccggcattgcaccagtccagINScccgccccgccaggcgtcgt																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr5:82940353_82940354insC	ENST00000274341.4	-	4	1453_1454	c.603_604insG	c.(601-606)gggctgfs	p.L202fs		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	202	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CACCAGTCCAGCCCGCCCCGCC	0.619																																						.											0																																										SO:0001589	frameshift_variant	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.604dupG	5.37:g.82940356_82940356dupC	ENSP00000274341:p.Leu202fs		B2R9A9	Frame_Shift_Ins	INS	ENST00000274341.4	37	CCDS4061.1																																																																																				0.619	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		C	82940354	-	C	82940353	7	5	56	1	0	1	1	0	0	0	0	0	6954	962	34	0	468	0	HAPLN1	5	82940353	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10		82940353	97974907	21	5540											
LECT2	3950	broad.mit.edu	37	chr5	135283165	135283165	+	Missense_Mutation	SNP	T	T	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	tatacttaattggcttaatgTagaacattttgacacaaaaa	17	14	5	5	0	0	2	0	1	0	1	0	2	0	2	0	1	2	2	0	1	8	8			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr5:135283165T>C	ENST00000274507.1	-	4	511	c.311A>G	c.(310-312)tAc>tGc	p.Y104C	LECT2_ENST00000522943.1_Intron|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_Missense_Mutation_p.Y32C|LECT2_ENST00000471827.1_Intron	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	104					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)			TGGCTTAATGTAGAACATTTT	0.308																																						.											0													86	79	81					5																	135283165		2203	4300	6503	SO:0001583	missense	3950			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.311A>G	5.37:g.135283165T>C	ENSP00000274507:p.Tyr104Cys		B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000274507.1	37	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784221	0.31593	.	.	ENSG00000145826	ENST00000274507;ENST00000512872	T;T	0.42513	0.97;2.95	5.52	5.52	0.82312	Peptidase M23 (1);	0.207483	0.43919	D	0.000501	T	0.30510	0.0767	L	0.33245	0.995	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.13045	-1.0524	10	0.48119	T	0.1	-4.7712	7.7505	0.28894	0.0:0.0965:0.0:0.9035	.	104	O14960	LECT2_HUMAN	C	104;32	ENSP00000274507:Y104C;ENSP00000427012:Y32C	ENSP00000274507:Y104C	Y	-	2	0	LECT2	135311064	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.555000	0.53727	2.099000	0.63709	0.533000	0.62120	TAC		0.308	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		C	135283165	T	C	135283165	3	2	56	1	0	0	0	0	1	0	0	0	8713	1638	57	2	148	2	LECT2	5	135283165	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	52342812	135283165	45632095	22	5541											
MDN1	23195	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr6	90353740	90353740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttctatgggtggtcagagGctgtcaccaactcaaaccac	10	10	10	11	0	4	1	3	0	1	1	4	1	4	1	2	3	2	2	2	3	3	2			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr6:90353740G>T	ENST00000369393.3	-	102	16890	c.16775C>A	c.(16774-16776)gCc>gAc	p.A5592D	MDN1_ENST00000428876.1_Missense_Mutation_p.A5592D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5592					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)		GTGGTCAGAGGCTGTCACCAA	0.473																																						.											0													116	102	106					6																	90353740		2203	4300	6503	SO:0001583	missense	23195			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.16775C>A	6.37:g.90353740G>T	ENSP00000358400:p.Ala5592Asp		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415218	0.62511	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.42245	1.32	0.58432	D	0.999999	D	0.71674	0.998	D	0.64687	0.928	T	0.10590	-1.0623	10	0.72032	D	0.01	.	20.119	0.97953	0.0:0.0:1.0:0.0	.	5592	Q9NU22	MDN1_HUMAN	D	5592	ENSP00000358400:A5592D;ENSP00000413970:A5592D	ENSP00000358400:A5592D	A	-	2	0	MDN1	90410461	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	7.355000	0.79434	2.763000	0.94921	0.555000	0.69702	GCC		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90353740	G	T	90353740	3	4	56	1	0	0	0	0	1	0	0	0	9415	1203	42	5	19	5	MDN1	6	90353740	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10		90353740	80761327	23	5542											
ECT2L	345930	broad.mit.edu	37	chr6	139164271	139164271	+	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	gctgctgctacttatgggacGctgaatgaacccaaaacaga	13	8	10	10	1	0	3	0	2	0	1	0	4	0	4	1	1	5	4	1	1	6	2			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr6:139164271G>A	ENST00000423192.1	+	5	659	c.498G>A	c.(496-498)acG>acA	p.T166T	ECT2L_ENST00000541398.1_Silent_p.T97T|ECT2L_ENST00000367682.2_Silent_p.T166T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	166							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						CTTATGGGACGCTGAATGAAC	0.453			"N, Splice, Mis"		ETP ALL																																	.		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													124	124	124					6																	139164271		1945	4154	6099	SO:0001819	synonymous_variant	345930				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.498G>A	6.37:g.139164271G>A			B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	CCDS43508.1																																																																																				0.453	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		A	139164271	G	A	139164271	2	1	56	1	0	0	0	0	0	0	0	1	4902	1074	38	1		1	ECT2L	6	139164271	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10	48810531	139164271	31950796	24	5543											
NCF1	653361	mdanderson.org	37	chr7	74193718	74193718	+	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	tcccgctgtccccacctcctCgacttcttcaaggtgcgccc	4	10	7	20	3	2	0	1	0	1	0	6	1	5	0	6	1	1	1	6	1	1	2	rs17356100	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr7:74193718C>T	ENST00000289473.4	+	4	415	c.345C>T	c.(343-345)ctC>ctT	p.L115L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	115	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)|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)	p.L115L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CCCACCTCCTCGACTTCTTCA	0.637																																						.											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001819	synonymous_variant	653361			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.345C>T	7.37:g.74193718C>T			A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	CCDS34657.1																																																																																				0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		T	74193718	C	T	74193718	2	4	56	1	0	0	0	0	0	0	0	1	10216	871	31	1		1	NCF1	7	74193718	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10		74193718	84944945	25	5544											
TRRAP	8295	broad.mit.edu	37	chr7	98522828	98522828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcaaatgcttcctggtgGccatgatgagcctggaggac	9	10	13	9	0	1	3	1	3	0	0	2	5	2	5	3	4	2	1	3	4	1	1			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr7:98522828G>T	ENST00000359863.4	+	22	3126	c.2917G>T	c.(2917-2919)Gcc>Tcc	p.A973S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A972S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A973S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	973					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)	p.A973S(2)		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)			CTTCCTGGTGGCCATGATGAG	0.562																																						.											2	Substitution - Missense(2)	endometrium(2)											173	138	149					7																	98522828		2203	4300	6503	SO:0001583	missense	8295			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.2917G>T	7.37:g.98522828G>T	ENSP00000352925:p.Ala973Ser		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.250101|4.250101	0.80024|0.80024	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.02812|.	4.15;4.15|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53578|0.53578	0.1805|0.1805	N|N	0.16066|0.16066	0.365|0.365	0.80722|0.80722	D|D	1|1	P;B;P|.	0.46784|.	0.884;0.297;0.461|.	B;B;B|.	0.43155|.	0.41;0.077;0.134|.	T|T	0.44143|0.44143	-0.9347|-0.9347	10|5	0.10377|.	T|.	0.69|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	973;687;973|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|C	973;973;971|687	ENSP00000352925:A973S;ENSP00000347733:A973S|.	ENSP00000347733:A973S|.	A|W	+|+	1|3	0|0	TRRAP|TRRAP	98360764|98360764	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.728000|9.728000	0.98792|0.98792	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98522828	G	T	98522828	3	4	56	1	0	0	0	0	1	0	0	0	16598	1203	42	5	2999	5	TRRAP	7	98522828	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	24329110	98522828	60615835	26	5545											
ATP6V0E2	155066	mdanderson.org	37	chr7	149571095	149571095	+	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	cgctgcccggctggggacccGcgcacctgcagcgcccgctg	3	4	15	19	6	0	0	0	0	0	0	0	1	0	1	4	3	3	5	4	3	0	0	rs79377053	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr7:149571095G>A	ENST00000464662.1	+	0	14				ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000606024.1_5'UTR|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.A30T|ATP6V0E2_ENST00000456496.2_Missense_Mutation_p.A30T|ATP6V0E2_ENST00000479613.1_5'UTR|ATP6V0E2_ENST00000425642.2_5'Flank			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						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)			CTGGGGACCCGCGCACCTGCA	0.716													G|||	682	0.136182	0.3994	0.049	5008	,	,		12396	0.0526		0.0368	False		,,,				2504	0.0307					.											0								G	THR/ALA,THR/ALA	991,2511		116,759,876	4	6	5		88,88	1.7	0	7	dbSNP_132	5	266,6746		7,252,3247	no	missense,missense	ATP6V0E2	NM_001100592.1,NM_145230.2	58,58	123,1011,4123	AA,AG,GG		3.7935,28.2981,11.9555	probably-damaging,probably-damaging	30/214,30/131	149571095	1257,9257	1751	3506	5257	SO:0001623	5_prime_UTR_variant	155066			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	ENST00000464662.1:c.-60G>A	7.37:g.149571095G>A			A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	ENST00000464662.1	37		283	0.1295787545787546	188	0.3821138211382114	21	0.058011049723756904	42	0.07342657342657342	32	0.04221635883905013	G	14.56	2.570645	0.45798	0.282981	0.037935	ENSG00000171130	ENST00000421974;ENST00000456496	.	.	.	2.57	1.67	0.24075	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.43550	P	0.004141999999999979	P	0.40638	0.725	B	0.27608	0.081	T	0.43988	-0.9357	7	0.87932	D	0	.	7.3999	0.26958	0.0:0.2709:0.7291:0.0	.	30	E9PAS2	.	T	30	.	ENSP00000411672:A30T	A	+	1	0	ATP6V0E2	149202028	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.103000	0.15292	0.651000	0.30788	0.563000	0.77884	GCG		0.716	ATP6V0E2-007	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350177.2	NM_145230		A	149571095	G	A	149571095	1	1	56	0	1	0	0	0	0	0	0	0	1176	1087	38	1		1	ATP6V0E2	7	149571095	5'UTR	SNP	G	TCGA-KO-8406-01A-11D-2310-10	51048267	149571095	9567568	27	5546											
MLL3	58508	mdanderson.org	37	chr7	151945291	151945291	+	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	tcacacaaccctcaattgtaGgagtcatttcagagtccatc	12	11	6	12	0	4	1	4	0	0	1	6	2	5	2	2	1	1	1	2	1	3	3			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr7:151945291G>A	ENST00000262189.6	-	14	2446	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P743L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	743					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)										CTCAATTGTAGGAGTCATTTC	0.378																																						.											0													79	77	77					7																	151945291		2203	4298	6501	SO:0001583	missense	58508			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.2228C>T	7.37:g.151945291G>A	ENSP00000262189:p.Pro743Leu		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.088	1.001012	0.19121	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82984	-1.66;-1.67	5.53	3.69	0.42338	.	0.700771	0.12290	N	0.482124	T	0.67850	0.2937	N	0.12746	0.255	0.27555	N	0.950388	B	0.09022	0.002	B	0.06405	0.002	T	0.55673	-0.8104	10	0.25106	T	0.35	.	9.9948	0.41893	0.1645:0.0:0.8355:0.0	.	743	Q8NEZ4	MLL3_HUMAN	L	743	ENSP00000262189:P743L;ENSP00000347325:P743L	ENSP00000262189:P743L	P	-	2	0	MLL3	151576224	0.956000	0.32656	0.898000	0.35279	0.657000	0.38888	3.175000	0.50855	1.304000	0.44892	0.650000	0.86243	CCT		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151945291	G	A	151945291	3	1	56	1	0	0	0	0	1	0	0	0	9622	1000	35	4	12691	4	MLL3	7	151945291	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	2374196	151945291	7193372	28	5547											
EGR3	1960	broad.mit.edu	37	chr8	22548132	22548132	+	Missense_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	gtcgctgcgcgcaaacttgcGcccgcagaactcgcaggcaa	9	5	12	15	6	0	1	0	0	0	1	2	1	0	1	1	1	4	5	1	1	3	1			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr8:22548132G>T	ENST00000317216.2	-	2	1375	c.1018C>A	c.(1018-1020)Cgc>Agc	p.R340S	EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.R302S	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	340					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)		GCAAACTTGCGCCCGCAGAAC	0.632																																						.											0													62	56	58					8																	22548132		2203	4300	6503	SO:0001583	missense	1960			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.1018C>A	8.37:g.22548132G>T	ENSP00000318057:p.Arg340Ser		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317109	0.81469	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.18960	2.18;2.18	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055456	0.64402	D	0.000001	T	0.40886	0.1135	L	0.42581	1.335	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	T	0.13308	-1.0514	10	0.87932	D	0	-25.3596	17.1549	0.86788	0.0:0.0:1.0:0.0	.	302;340	E7EW38;Q06889	.;EGR3_HUMAN	S	340;302;181	ENSP00000318057:R340S;ENSP00000430310:R302S	ENSP00000318057:R340S	R	-	1	0	EGR3	22604077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.832000	0.48152	2.643000	0.89663	0.655000	0.94253	CGC		0.632	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		T	22548132	G	T	22548132	3	4	56	1	0	0	0	0	1	0	0	0	4973	1087	38	5	149	5	EGR3	8	22548132	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10		22548132	123815890	29	5548											
PLEC	5339	mdanderson.org	37	chr8	144997656	144997656	+	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	tgctccgcctgtgcccgccgCgccgcctcttgctcggcctc	0	9	11	21	6	1	0	0	0	1	0	4	0	2	0	7	1	3	2	7	1	0	1	rs7016416	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr8:144997656C>T	ENST00000322810.4	-	31	7021	c.6852G>A	c.(6850-6852)gcG>gcA	p.A2284A	PLEC_ENST00000357649.2_Silent_p.A2151A|PLEC_ENST00000356346.3_Silent_p.A2133A|PLEC_ENST00000354589.3_Silent_p.A2147A|PLEC_ENST00000398774.2_Silent_p.A2115A|PLEC_ENST00000436759.2_Silent_p.A2174A|PLEC_ENST00000527096.1_Silent_p.A2170A|PLEC_ENST00000354958.2_Silent_p.A2125A|PLEC_ENST00000345136.3_Silent_p.A2147A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2284	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						GTGCCCGCCGCGCCGCCTCTT	0.692													C|||	1153	0.230232	0.028	0.2954	5008	,	,		12031	0.1429		0.4245	False		,,,				2504	0.3476					.											0								C	,,,,,,,	329,3527		26,277,1625	8	11	10		6522,6399,6375,6852,6345,6441,6453,6441	-7.4	0	8	dbSNP_116	10	3097,4915		616,1865,1525	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	642,2142,3150	TT,TC,CC		38.6545,8.5322,28.8675	,,,,,,,	2174/4575,2133/4534,2125/4526,2284/4685,2115/4516,2147/4548,2151/4552,2147/4548	144997656	3426,8442	1928	4006	5934	SO:0001819	synonymous_variant	5339			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.6852G>A	8.37:g.144997656C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144997656	C	T	144997656	2	4	56	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144997656	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10	122449524	144997656	1366366	30	5549											
FOXD4	2298	broad.mit.edu	37	chr9	117398	117400	+	In_Frame_Del	DEL	GGC	GGC	-																															tggggtaggcccccgggactGgctgcggcggggcaggggcc																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:117398_117400delGGC	ENST00000382500.2	-	1	1017_1019	c.720_722delGCC	c.(718-723)cagcca>caa	p.P241del		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	241	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)		CCCCGGGACTGGCTGCGGCGGGG	0.734																																						.											0																																										SO:0001651	inframe_deletion	2298			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.720_722delGCC	9.37:g.117398_117400delGGC	ENSP00000371940:p.Pro241del		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	In_Frame_Del	DEL	ENST00000382500.2	37	CCDS34975.1																																																																																				0.734	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		-	117400	GGC	-	117398	7	5	56	1	0	1	0	1	0	0	0	0	5999	1348	47	0	601	0	FOXD4	9	117398	In_Frame_Del	DEL	GGC	TCGA-KO-8406-01A-11D-2310-10		117398	141096033	31	5550											
MED27	9442	mdanderson.org	37	chr9	134735980	134735980	+	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	ttcggaaatccctccatgtcGggggaaggccgtcctgcaga	8	8	13	12	3	0	1	0	0	0	1	5	3	3	3	4	4	1	1	4	4	2	1	rs557626461	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:134735980G>A	ENST00000292035.5	-	8	944	c.881C>T	c.(880-882)cCg>cTg	p.P294L	MED27_ENST00000357028.2_Missense_Mutation_p.P258L	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	294					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)	p.P294L(4)|p.P294fs*>18(1)		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)		CCTCCATGTCGGGGGAAGGCC	0.597													G|||	40	0.00798722	0.003	0.0072	5008	,	,		18345	0		0.0169	False		,,,				2504	0.0143				Colon(41;784 923 6932 42329 52483)	.											5	Substitution - Missense(4)|Deletion - Frameshift(1)	endometrium(2)|kidney(2)|large_intestine(1)											30	29	29					9																	134735980		2203	4300	6503	SO:0001583	missense	9442			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.881C>T	9.37:g.134735980G>A	ENSP00000292035:p.Pro294Leu		O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095595	0.94197	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.86894	0.2050	9	0.87932	D	0	-0.1478	16.105	0.81213	0.0:0.0:1.0:0.0	.	258;294	Q6P2C8-2;Q6P2C8	.;MED27_HUMAN	L	294;220;258	.	ENSP00000292035:P294L	P	-	2	0	MED27	133725801	1.000000	0.71417	0.949000	0.38748	0.987000	0.75469	7.762000	0.85270	2.472000	0.83506	0.655000	0.94253	CCG		0.597	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		A	134735980	G	A	134735980	3	1	56	1	0	0	0	0	1	0	0	0	9445	1116	39	1	58	1	MED27	9	134735980	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	134618582	134735980	6477451	32	5551											
LCN1	3933	broad.mit.edu	37	chr9	138415126	138415127	+	Frame_Shift_Ins	INS	-	-	G																															ccgtcctggagaaaactgacINSgagccgggaaaatacacggc																								rs146192526		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:138415126_138415127insG	ENST00000263598.2	+	3	330_331	c.270_271insG	c.(271-273)gagfs	p.E91fs	LCN1_ENST00000371781.3_Frame_Shift_Ins_p.E91fs	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	91					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)		AGAAAACTGACGAGCCGGGAAA	0.644																																						.											0																																										SO:0001589	frameshift_variant	3933				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.271dupG	9.37:g.138415127_138415127dupG	ENSP00000263598:p.Glu91fs		Q5T8A1	Frame_Shift_Ins	INS	ENST00000263598.2	37	CCDS6991.1																																																																																				0.644	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		G	138415127	-	G	138415126	7	5	56	1	0	1	1	0	0	0	0	0	8680	535	19	0	280	0	LCN1	9	138415126	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	3679146	138415126	2798305	33	5552											
KCNT1	57582	hgsc.bcm.edu	37	chr9	138678160	138678160	+	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	gccacacgggcggcggtgacCccgcagagcacccactgcta	8	3	13	17	4	0	2	0	1	0	1	0	2	0	2	4	3	2	3	4	3	1	1	rs200642629	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:138678160C>T	ENST00000263604.3	+	28	3217	c.3217C>T	c.(3217-3219)Ccc>Tcc	p.P1073S	KCNT1_ENST00000298480.5_Missense_Mutation_p.P1099S|KCNT1_ENST00000371757.2_Missense_Mutation_p.P1099S|KCNT1_ENST00000488444.2_Missense_Mutation_p.P1078S|KCNT1_ENST00000486577.2_Missense_Mutation_p.P1056S|KCNT1_ENST00000490355.2_Missense_Mutation_p.P1077S|KCNT1_ENST00000487664.1_Missense_Mutation_p.P1054S|KCNT1_ENST00000491806.2_Missense_Mutation_p.P1064S			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1073					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)		CGGCGGTGACCCCGCAGAGCA	0.751													c|||	12	0.00239617	8e-04	0.0043	5008	,	,		9758	0		0.005	False		,,,				2504	0.0031					.											0									SER/PRO	5,3799		0,5,1897	5	8	7		3295	2.8	0	9		7	43,7487		0,43,3722	no	missense	KCNT1	NM_020822.2	74	0,48,5619	TT,TC,CC		0.571,0.1314,0.4235	benign	1099/1236	138678160	48,11286	1902	3765	5667	SO:0001583	missense	57582			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.3217C>T	9.37:g.138678160C>T	ENSP00000263604:p.Pro1073Ser		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	C	2.688	-0.273722	0.05679	0.001314	0.00571	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.20200	2.12;2.12;2.11;2.09	4.75	2.83	0.33086	.	0.398942	0.25397	U	0.030971	T	0.07052	0.0179	N	0.14661	0.345	0.34754	D	0.732071	B;B;B	0.11235	0.001;0.0;0.004	B;B;B	0.16289	0.004;0.001;0.015	T	0.27226	-1.0080	10	0.08837	T	0.75	-1.9472	9.2418	0.37500	0.1443:0.7787:0.0:0.077	.	1066;1099;1054	C9JYL2;B9EGP2;G5E9V0	.;.;.	S	1054;1099;1099;1058;1066;1080;1078;1073	ENSP00000417851:P1054S;ENSP00000298480:P1099S;ENSP00000360822:P1099S;ENSP00000263604:P1073S	ENSP00000263604:P1073S	P	+	1	0	KCNT1	137817981	1.000000	0.71417	0.024000	0.17045	0.003000	0.03518	4.140000	0.58031	0.393000	0.25203	0.586000	0.80456	CCC		0.751	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		T	138678160	C	T	138678160	3	4	56	1	0	0	0	0	1	0	0	0	8091	623	22	3	3409	3	KCNT1	9	138678160	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	263034	138678160	2535271	34	5553											
CARD9	64170	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr9	139262146	139262146	+	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	ccctccacggccagtagctgCgcctcacactggaacacctg	8	6	9	18	2	1	0	1	0	0	0	2	1	2	1	5	2	3	2	5	2	2	1	rs574560841	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr9:139262146C>T	ENST00000371732.5	-	8	1377	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Silent_p.A404A	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	404					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)		CCAGTAGCTGCGCCTCACACT	0.726													C|||	2	0.000399361	0	0.0014	5008	,	,		16164	0		0.001	False		,,,				2504	0					.											0													33	29	30					9																	139262146		2185	4291	6476	SO:0001819	synonymous_variant	64170			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.1212G>A	9.37:g.139262146C>T			Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	CCDS6997.1																																																																																				0.726	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		T	139262146	C	T	139262146	2	4	56	1	0	0	0	0	0	0	0	1	2652	755	27	1		1	CARD9	9	139262146	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10	583986	139262146	1951285	35	5554											
MUC2	4583	mdanderson.org	37	chr11	1092860	1092860	+	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	cggcacacagaccccaacaaCgacacccatcaccaccacca	15	1	4	21	2	1	1	1	0	0	1	1	2	1	1	6	1	2	1	6	1	2	0			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:1092860C>T	ENST00000441003.2	+	30	4706	c.4679C>T	c.(4678-4680)aCg>aTg	p.T1560M	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1561M	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)	ACCCCAACAACGACACCCATC	0.627																																						.											0													126	161	149					11																	1092860		1924	3596	5520	SO:0001583	missense	4583			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.4679C>T	11.37:g.1092860C>T	ENSP00000415183:p.Thr1560Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	c	3.171	-0.170008	0.06461	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.15718	2.4;2.8	1.61	0.458	0.16670	.	7739.210000	0.00465	U	0.000107	T	0.11623	0.0283	.	.	.	0.09310	N	1	D	0.60160	0.987	B	0.34489	0.184	T	0.37731	-0.9693	9	0.46703	T	0.11	.	7.5682	0.27892	0.2572:0.7428:0.0:0.0	.	1560	E7EUV1	.	M	1560;1561	ENSP00000415183:T1560M;ENSP00000351956:T1561M	ENSP00000351956:T1561M	T	+	2	0	MUC2	1082860	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.339000	0.19875	-0.001000	0.14495	0.109000	0.15622	ACG		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092860	C	T	1092860	3	4	56	1	0	0	0	0	1	0	0	0	9975	536	19	1	4797	1	MUC2	11	1092860	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		1092860	133913656	36	5555			2	44		3	3	495	N	T_C	7.333477e-07
MUC2	4583	mdanderson.org	37	chr11	1092928	1092928	+	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	ccggcacacagaccccaacaTcgacacccatcaccaccacc	13	2	4	22	2	1	1	1	0	0	1	2	2	1	1	7	1	1	1	7	1	1	0	rs12791677		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:1092928T>A	ENST00000441003.2	+	30	4774	c.4747T>A	c.(4747-4749)Tcg>Acg	p.S1583T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.S1584T	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)	gaccccaacatcgacacccat	0.632																																						.											0																																										SO:0001583	missense	4583			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.4747T>A	11.37:g.1092928T>A	ENSP00000415183:p.Ser1583Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	T	0.629	-0.817927	0.02776	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12255	2.7;3.41	1.75	-3.51	0.04696	.	3.022220	0.02729	N	0.114829	T	0.06005	0.0156	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29119	-1.0022	9	0.12766	T	0.61	.	0.5592	0.00676	0.2873:0.3401:0.1565:0.2162	.	1583	E7EUV1	.	T	1583;1584	ENSP00000415183:S1583T;ENSP00000351956:S1584T	ENSP00000351956:S1584T	S	+	1	0	MUC2	1082928	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-3.679000	0.00395	-2.640000	0.00429	-1.550000	0.00899	TCG		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092928	T	A	1092928	3	1	56	1	0	0	0	0	1	0	0	0	9975	1435	50	5	4865	5	MUC2	11	1092928	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	68	1092928	133913588	37	5556			2	44		3	3	495	N	T_C	7.333477e-07
MUC2	4583	mdanderson.org	37	chr11	1093354	1093354	+	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	ccccaaccccgacacccatcTccaccaccactacggtgacc	10	4	4	23	2	1	1	0	1	1	0	2	2	1	1	9	1	2	0	9	1	2	1	rs56290335	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:1093354T>A	ENST00000441003.2	+	30	5200	c.5173T>A	c.(5173-5175)Tcc>Acc	p.S1725T	MUC2_ENST00000333592.6_Missense_Mutation_p.S13T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.S1692T	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)		p.S1725T(1)|p.S1692T(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)	gacacccatctccaccaccac	0.647																																						.											2	Substitution - Missense(2)	stomach(2)											207	244	231					11																	1093354		1965	3771	5736	SO:0001583	missense	4583			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.5173T>A	11.37:g.1093354T>A	ENSP00000415183:p.Ser1725Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130853	0.00338	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.05580	3.56;3.42;3.71	1.49	-2.99	0.05497	.	0.209755	0.18974	U	0.126050	T	0.02156	0.0067	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40232	-0.9574	9	0.07813	T	0.8	.	3.3544	0.07164	0.3578:0.2012:0.0:0.441	rs56290335;rs61051760	1725	E7EUV1	.	T	1725;1692;13	ENSP00000415183:S1725T;ENSP00000351956:S1692T;ENSP00000331373:S13T	ENSP00000331373:S13T	S	+	1	0	MUC2	1083354	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.518000	0.06267	-2.490000	0.00517	-1.234000	0.01563	TCC		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093354	T	A	1093354	3	1	56	1	0	0	0	0	1	0	0	0	9975	1551	54	5	5291	5	MUC2	11	1093354	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	426	1093354	133913162	38	5557			2	44		3	3	495	N	T_C	7.333477e-07
FOLH1	2346	bcgsc.ca	37	chr11	49204779	49204779	+	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	caacagcctctgcaattccaCgcctataagcatattctgaa	13	10	5	13	1	2	1	0	1	2	0	3	1	3	1	3	0	4	2	3	0	6	5	rs116795343	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	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)	p.R281L(1)		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)	TGCAATTCCACGCCTATAAGC	0.348																																						.											1	Substitution - Missense(1)	lung(1)											72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	2346			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.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49204779	C	T	49204779	3	4	56	1	0	0	0	0	1	0	0	0	5979	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	48111425	49204779	85801737	39	5558											
OR5M9	390162	mdanderson.org	37	chr11	56230790	56230790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgatcatgtaaaccgctaGgaacaccacaaaaaagagaa	20	5	8	8	1	1	2	1	1	0	1	1	4	1	3	2	1	2	2	2	1	8	2			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:56230790G>T	ENST00000279791.1	-	1	87	c.88C>A	c.(88-90)Cta>Ata	p.L30I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	30						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(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TAAACCGCTAGGAACACCACA	0.433																																						.											0													52	51	51					11																	56230790		2201	4296	6497	SO:0001583	missense	390162			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.88C>A	11.37:g.56230790G>T	ENSP00000279791:p.Leu30Ile		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837227	0.32513	.	.	ENSG00000150269	ENST00000279791	T	0.01854	4.6	4.82	0.603	0.17541	.	0.000000	0.35615	N	0.003085	T	0.10895	0.0266	M	0.88906	2.99	0.27153	N	0.961363	D	0.76494	0.999	D	0.87578	0.998	T	0.03166	-1.1065	10	0.72032	D	0.01	-4.7656	5.3013	0.15780	0.2686:0.0:0.5859:0.1455	.	30	Q8NGP3	OR5M9_HUMAN	I	30	ENSP00000279791:L30I	ENSP00000279791:L30I	L	-	1	2	OR5M9	55987366	0.000000	0.05858	0.485000	0.27403	0.065000	0.16274	-0.600000	0.05693	0.147000	0.19030	-0.272000	0.10252	CTA		0.433	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		T	56230790	G	T	56230790	3	4	56	1	0	0	0	0	1	0	0	0	11177	991	35	5	846	5	OR5M9	11	56230790	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	7026011	56230790	78775726	40	5559											
C11orf9	745	broad.mit.edu	37	chr11	61537797	61537797	+	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	cgcctggagcatccgcccccAcctccagcccacttgccagg	6	5	9	21	2	0	0	0	0	0	0	2	1	2	1	8	2	3	1	8	2	0	1			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:61537797A>C	ENST00000278836.5	+	5	636	c.540A>C	c.(538-540)ccA>ccC	p.P180P	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.P171P	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	180	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)										ATCCGCCCCCACCTCCAGCCC	0.692																																						.											0													10	9	9					11																	61537797		2174	4280	6454	SO:0001819	synonymous_variant	745				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.540A>C	11.37:g.61537797A>C			O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	CCDS44622.1																																																																																				0.692	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		C	61537797	A	C	61537797	2	2	56	1	0	0	0	0	0	0	0	1	1671	146	6	5		5	C11orf9	11	61537797	Silent	SNP	A	TCGA-KO-8406-01A-11D-2310-10	5307007	61537797	73468719	41	5560											
SLC22A11	55867	hgsc.bcm.edu;mdanderson.org	37	chr11	64326666	64326666	+	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	agccagtccatcttcatgtcCgggatcctggtgggctcctt	5	12	11	13	1	2	0	1	0	1	0	6	1	6	1	5	3	1	1	5	3	0	2	rs145210367		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:64326666C>T	ENST00000301891.4	+	2	827	c.453C>T	c.(451-453)tcC>tcT	p.S151S	SLC22A11_ENST00000377585.3_Silent_p.S151S|SLC22A11_ENST00000377581.3_Silent_p.S151S|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	151					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TCTTCATGTCCGGGATCCTGG	0.607																																						.											0								C		0,4402		0,0,2201	136	121	126		453	-4.5	0	11	dbSNP_134	126	1,8593		0,1,4296	no	coding-synonymous	SLC22A11	NM_018484.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		151/551	64326666	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	55867			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.453C>T	11.37:g.64326666C>T			A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	CCDS8074.1																																																																																				0.607	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		T	64326666	C	T	64326666	2	4	56	1	0	0	0	0	0	0	0	1	14442	639	23	1		1	SLC22A11	11	64326666	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10	2788869	64326666	70679850	42	5561											
KLC2	64837	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	66033395	66033395	+	Missense_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	cagtggcaggcggggagaccGccgcagcagccgagacatgg	9	2	18	12	4	0	2	0	0	0	2	0	4	0	2	3	5	2	3	3	5	0	0			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:66033395G>A	ENST00000417856.1	+	13	1757	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H	KLC2_ENST00000421552.1_Missense_Mutation_p.R428H|KLC2_ENST00000394066.2_Missense_Mutation_p.R428H|KLC2_ENST00000394067.2_Missense_Mutation_p.R505H|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Missense_Mutation_p.R366H|KLC2_ENST00000316924.5_Missense_Mutation_p.R505H|RP11-867G23.1_ENST00000530805.1_RNA|RAB1B_ENST00000527397.1_5'Flank	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	505					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						CGGGGAGACCGCCGCAGCAGC	0.662																																						.											0													23	29	27					11																	66033395		2182	4278	6460	SO:0001583	missense	64837			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.1514G>A	11.37:g.66033395G>A	ENSP00000399403:p.Arg505His		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918644	0.33908	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.84730	-1.23;-1.23;-1.23;-1.23;-1.23;-1.89	3.71	2.8	0.32819	.	0.000000	0.64402	D	0.000004	T	0.78666	0.4319	M	0.62723	1.935	0.37978	D	0.9335	B;B;B	0.25105	0.0;0.013;0.118	B;B;B	0.20955	0.001;0.001;0.032	T	0.69946	-0.5007	10	0.16420	T	0.52	-7.9387	7.7476	0.28877	0.2114:0.0:0.7886:0.0	.	366;428;505	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	H	505;505;505;428;428;366	ENSP00000399403:R505H;ENSP00000377631:R505H;ENSP00000314837:R505H;ENSP00000408484:R428H;ENSP00000377630:R428H;ENSP00000377629:R366H	ENSP00000314837:R505H	R	+	2	0	KLC2	65789971	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	2.303000	0.43646	0.765000	0.33221	-0.424000	0.05967	CGC		0.662	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		A	66033395	G	A	66033395	3	1	56	1	0	0	0	0	1	0	0	0	8334	1087	38	1	1560	1	KLC2	11	66033395	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	1706729	66033395	68973121	43	5562											
CDK2AP2	10263	broad.mit.edu	37	chr11	67274865	67274865	+	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	ggcgctccatggcgctcttgCtgccagcataggtaggccgg	5	8	15	13	3	1	0	0	0	1	0	2	0	2	0	3	5	3	5	3	5	2	3			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:67274865C>T	ENST00000301488.3	-	3	832	c.284G>A	c.(283-285)aGc>aAc	p.S95N	PITPNM1_ENST00000356404.3_5'Flank|PITPNM1_ENST00000436757.2_5'Flank|CDK2AP2_ENST00000531506.1_Missense_Mutation_p.S95N	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	95										lung(1)	1						GGCGCTCTTGCTGCCAGCATA	0.597																																						.											0													63	64	64					11																	67274865		2200	4295	6495	SO:0001583	missense	10263			AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"tumor suppressor deleted in oral cancer related 1"		"CDK2-associated protein 2"			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.284G>A	11.37:g.67274865C>T	ENSP00000301488:p.Ser95Asn			Missense_Mutation	SNP	ENST00000301488.3	37	CCDS8169.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950460	0.92660	.	.	ENSG00000167797	ENST00000301488;ENST00000531506	.	.	.	4.92	4.92	0.64577	.	0.293454	0.46145	D	0.000320	T	0.68933	0.3055	L	0.43923	1.385	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.83275	0.996;0.982	T	0.69091	-0.5237	9	0.49607	T	0.09	-22.2115	15.6517	0.77099	0.0:1.0:0.0:0.0	.	95;95	Q6IAV4;O75956	.;CDKA2_HUMAN	N	95	.	ENSP00000301488:S95N	S	-	2	0	CDK2AP2	67031441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.239000	0.78182	2.553000	0.86117	0.561000	0.74099	AGC		0.597	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395535.1	NM_005851		T	67274865	C	T	67274865	3	4	56	1	0	0	0	0	1	0	0	0	3139	797	28	4	104	4	CDK2AP2	11	67274865	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	1241470	67274865	67731651	44	5563											
FZD4	8322	mdanderson.org	37	chr11	86662232	86662232	+	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	ggcttcacccaaccatttccTctcttctctctctttacctt	5	17	2	17	0	4	0	1	0	3	0	8	0	5	0	4	1	2	1	4	1	2	6			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:86662232T>C	ENST00000531380.1	-	2	1871	c.1566A>G	c.(1564-1566)agA>agG	p.R522R	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000531521.1_Intron	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	522					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)				AACCATTTCCTCTCTTCTCTC	0.468																																						.											0													138	146	144					11																	86662232		2201	4299	6500	SO:0001819	synonymous_variant	8322			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.1566A>G	11.37:g.86662232T>C			A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	CCDS8279.1																																																																																				0.468	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		C	86662232	T	C	86662232	2	2	56	1	0	0	0	0	0	0	0	1	6132	1548	54	2		2	FZD4	11	86662232	Silent	SNP	T	TCGA-KO-8406-01A-11D-2310-10	19387367	86662232	48344284	45	5564											
SORL1	6653	ucsc.edu	37	chr11	121323057	121323057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacatggcgacacggagcaGcaggagggagtcgcgactcc	11	3	16	11	4	0	0	0	0	0	0	2	6	1	3	1	4	3	2	1	4	1	0			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr11:121323057G>T	ENST00000260197.7	+	1	146	c.17G>T	c.(16-18)aGc>aTc	p.S6I	RP11-730K11.1_ENST00000529160.1_RNA|RP11-730K11.1_ENST00000501964.1_RNA	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	6					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)		ACACGGAGCAGCAGGAGGGAG	0.697																																						.											0													12	11	11					11																	121323057		2182	4277	6459	SO:0001583	missense	6653			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.17G>T	11.37:g.121323057G>T	ENSP00000260197:p.Ser6Ile		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086607	0.76642	.	.	ENSG00000137642	ENST00000260197	D	0.91686	-2.89	3.8	3.8	0.43715	.	0.313533	0.25148	N	0.032777	D	0.82903	0.5138	N	0.08118	0	0.80722	D	1	P	0.38565	0.637	B	0.38655	0.278	D	0.84642	0.0696	10	0.56958	D	0.05	.	11.0822	0.48066	0.0:0.0:1.0:0.0	.	6	Q92673	SORL_HUMAN	I	6	ENSP00000260197:S6I	ENSP00000260197:S6I	S	+	2	0	SORL1	120828267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.867000	0.56047	1.985000	0.57927	0.442000	0.29010	AGC		0.697	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		T	121323057	G	T	121323057	3	4	56	1	0	0	0	0	1	0	0	0	14934	971	34	5	19	5	SORL1	11	121323057	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	34660825	121323057	13683459	46	5565											
PZP	5858	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr12	9315213	9315213	+	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	ctgaggcacaggtcatagaaCtgaaagtcttttcttgctca	11	12	9	9	0	4	3	2	2	2	1	4	3	4	3	0	2	2	2	0	2	3	4			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:9315213C>A	ENST00000261336.2	-	22	2796	c.2768G>T	c.(2767-2769)aGt>aTt	p.S923I	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.S709I	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	923					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGTCATAGAACTGAAAGTCTT	0.393																																					Melanoma(125;1402 1695 4685 34487 38571)	.											0													151	134	140					12																	9315213		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2768G>T	12.37:g.9315213C>A	ENSP00000261336:p.Ser923Ile		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653628	0.47362	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.38240	2.2;1.15	2.83	1.66	0.24008	.	0.337611	0.23351	U	0.049128	T	0.33556	0.0867	M	0.76838	2.35	0.09310	N	0.999999	B;P	0.37158	0.001;0.585	B;B	0.34652	0.0;0.187	T	0.33650	-0.9860	10	0.87932	D	0	.	4.962	0.14070	0.0:0.467:0.0:0.533	.	709;923	P20742-2;P20742	.;PZP_HUMAN	I	923;709	ENSP00000261336:S923I;ENSP00000371427:S709I	ENSP00000261336:S923I	S	-	2	0	PZP	9206480	0.505000	0.26131	0.129000	0.21949	0.530000	0.34684	-0.084000	0.11268	0.501000	0.28013	-0.483000	0.04790	AGT		0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9315213	C	A	9315213	3	1	56	1	0	0	0	0	1	0	0	0	12869	565	20	5	1740	5	PZP	12	9315213	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		9315213	124536682	47	5566											
TAS2R31	259290	mdanderson.org	37	chr12	11183793	11183793	+	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	ggagaccgccagagcagtgaGaatctggtcagcaaaagaga	15	4	14	8	1	2	4	1	1	1	4	2	7	2	4	2	2	2	2	2	2	3	0			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:11183793G>C	ENST00000390675.2	-	1	213	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	48					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)|lung(6)	7						AGAGCAGTGAGAATCTGGTCA	0.378																																						.											0													73	77	76					12																	11183793		1984	4234	6218	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.142C>G	12.37:g.11183793G>C	ENSP00000375093:p.Leu48Val		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.416943	0.25552	.	.	ENSG00000256436	ENST00000390675	T	0.01484	4.84	2.45	1.45	0.22620	.	.	.	.	.	T	0.07818	0.0196	M	0.94142	3.5	0.09310	N	1	P	0.41450	0.75	P	0.47827	0.558	T	0.05716	-1.0868	9	0.56958	D	0.05	.	6.1115	0.20104	0.0:0.0:0.6975:0.3025	.	48	P59538	T2R31_HUMAN	V	48	ENSP00000375093:L48V	ENSP00000375093:L48V	L	-	1	0	TAS2R31	11075060	0.077000	0.21312	0.006000	0.13384	0.092000	0.18411	0.787000	0.26858	0.299000	0.22661	0.194000	0.17425	CTC		0.378	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		C	11183793	G	C	11183793	3	2	56	1	0	0	0	0	1	0	0	0	15571	942	33	5	791	5	TAS2R31	12	11183793	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	1868580	11183793	122668102	48	5567			3	45		2	2	17	N	G_A	3.927986e-05
TAS2R31	259290	mdanderson.org	37	chr12	11183809	11183809	+	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	gtgagaatctggtcagcaaaAgagatcttttgtctcttgac	11	13	10	7	0	4	3	1	2	3	2	5	5	4	3	0	1	1	1	0	1	3	3			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:11183809A>G	ENST00000390675.2	-	1	197	c.126T>C	c.(124-126)tcT>tcC	p.S42S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	42					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)|lung(6)	7						GGTCAGCAAAAGAGATCTTTT	0.388																																						.											0													68	71	70					12																	11183809		1988	4220	6208	SO:0001819	synonymous_variant	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.126T>C	12.37:g.11183809A>G			P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	CCDS53747.1																																																																																				0.388	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		G	11183809	A	G	11183809	2	3	56	1	0	0	0	0	0	0	0	1	15571	59	3	2		2	TAS2R31	12	11183809	Silent	SNP	A	TCGA-KO-8406-01A-11D-2310-10	16	11183809	122668086	49	5568			3	45		2	2	17	N	G_A	3.927986e-05
GNS	2799	broad.mit.edu	37	chr12	65152902	65152902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctggtcgtccgtgaggAgcagcaccacgttgggcctc	5	8	14	14	4	0	1	0	1	0	0	4	2	2	2	4	3	2	3	4	3	0	1			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:65152902A>G	ENST00000258145.3	-	1	325	c.155T>C	c.(154-156)cTc>cCc	p.L52P	RP11-629N8.3_ENST00000434563.3_RNA|snoU13_ENST00000458789.1_RNA|GNS_ENST00000542058.1_Missense_Mutation_p.L52P|GNS_ENST00000543646.1_Missense_Mutation_p.L52P	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	52					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)		GTCCGTGAGGAGCAGCACCAC	0.657																																						.											0													29	29	29					12																	65152902		2191	4282	6473	SO:0001583	missense	2799				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.155T>C	12.37:g.65152902A>G	ENSP00000258145:p.Leu52Pro		B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980417	0.74474	.	.	ENSG00000135677	ENST00000258145;ENST00000543646;ENST00000542058	D;D;D	0.97041	-4.22;-4.22;-4.22	4.48	4.48	0.54585	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.131881	0.48286	D	0.000184	D	0.97216	0.9090	M	0.64997	1.995	0.54753	D	0.999982	D;D;P	0.55385	0.971;0.971;0.941	P;P;P	0.59761	0.646;0.807;0.863	D	0.96596	0.9441	9	.	.	.	-7.1383	11.5388	0.50655	1.0:0.0:0.0:0.0	.	52;52;52	B4DYH8;F6S8M0;P15586	.;.;GNS_HUMAN	P	52	ENSP00000258145:L52P;ENSP00000438497:L52P;ENSP00000444819:L52P	.	L	-	2	0	GNS	63439169	0.606000	0.26949	0.907000	0.35723	0.877000	0.50540	2.943000	0.49026	2.022000	0.59522	0.397000	0.26171	CTC		0.657	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			G	65152902	A	G	65152902	3	3	56	1	0	0	0	0	1	0	0	0	6550	304	11	2	1559	2	GNS	12	65152902	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	53969093	65152902	68698993	50	5569											
DCN	1634	broad.mit.edu	37	chr12	91550949	91550949	+	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	tcaattcctgagctcttcagCggattggtgcccagttctac	7	13	9	12	1	4	1	2	1	2	0	5	2	5	2	2	2	4	2	2	2	2	5	rs147765043		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:91550949C>T	ENST00000052754.5	-	5	1056	c.555G>A	c.(553-555)ccG>ccA	p.P185P	DCN_ENST00000420120.2_Silent_p.P76P|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Silent_p.P185P|DCN_ENST00000393155.1_Silent_p.P185P|DCN_ENST00000228329.5_Silent_p.P76P|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	185					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGCTCTTCAGCGGATTGGTGC	0.428																																						.											0													119	115	116					12																	91550949		2203	4300	6503	SO:0001819	synonymous_variant	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.555G>A	12.37:g.91550949C>T			Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Silent	SNP	ENST00000052754.5	37	CCDS9039.1																																																																																				0.428	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		T	91550949	C	T	91550949	2	4	56	1	0	0	0	0	0	0	0	1	4297	755	27	1		1	DCN	12	91550949	Silent	SNP	C	TCGA-KO-8406-01A-11D-2310-10	26398047	91550949	42300946	51	5570											
TRAFD1	10906	broad.mit.edu	37	chr12	112578793	112578794	+	Frame_Shift_Del	DEL	GA	GA	-																															actcaccctgaagtttgtggGagagagggggaggaaaagag																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:112578793_112578794delGA	ENST00000257604.5	+	5	1025_1026	c.408_409delGA	c.(406-411)gggagafs	p.R137fs	TRAFD1_ENST00000412615.2_Frame_Shift_Del_p.R137fs	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	137					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						AAGTTTGTGGGAGAGAGGGGGA	0.48																																						.											0																																										SO:0001589	frameshift_variant	10906			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.408_409delGA	12.37:g.112578797_112578798delGA	ENSP00000257604:p.Arg137fs		A8K5L6|B4DI89	Frame_Shift_Del	DEL	ENST00000257604.5	37	CCDS9160.1																																																																																				0.48	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		-	112578794	GA	-	112578793	7	5	56	1	0	1	0	1	0	0	0	0	16444	1161	41	0	422	0	TRAFD1	12	112578793	Frame_Shift_Del	DEL	GA	TCGA-KO-8406-01A-11D-2310-10	21027844	112578793	21273102	52	5571											
RNFT2	84900	mdanderson.org	37	chr12	117187907	117187907	+	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	caccgccagccccaccaccaTttccaccatggcggccaccg	8	4	7	22	3	0	0	0	0	0	0	1	0	1	0	10	2	1	0	10	2	0	1	rs111256849	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000407967.3_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000392549.2_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117					.											0								C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C			E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																				0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	56	1	0	0	0	0	0	0	0	1	13502	1490	52	4		4	RNFT2	12	117187907	Silent	SNP	T	TCGA-KO-8406-01A-11D-2310-10	4609114	117187907	16663988	53	5572											
HNF1A	6927	broad.mit.edu	37	chr12	121437368	121437369	+	Frame_Shift_Ins	INS	-	-	C																															accaccctccacgtccccagINSccaggaccctgccagcatcc																										TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr12:121437368_121437369insC	ENST00000257555.6	+	9	1932_1933	c.1706_1707insC	c.(1705-1710)agccagfs	p.Q570fs	HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.Q601fs|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.Q577fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	570					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACGTCCCCAGCCAGGACCCTG	0.688									Hepatic Adenoma, Familial Clustering of																													.											0																																										SO:0001589	frameshift_variant	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1708dupC	12.37:g.121437370_121437370dupC	ENSP00000257555:p.Gln570fs		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Frame_Shift_Ins	INS	ENST00000257555.6	37	CCDS9209.1																																																																																				0.688	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		C	121437369	-	C	121437368	7	5	56	1	0	1	1	0	0	0	0	0	7251	971	34	0	1740	0	HNF1A	12	121437368	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10	4249461	121437368	12414527	54	5573											
PSPC1	55269	mdanderson.org	37	chr13	20279800	20279800	+	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	aataatgtttatgatacattAccactgctccattatctggc	12	15	5	9	0	1	1	0	1	1	0	2	1	2	1	2	1	3	2	2	1	6	6	rs199978034		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr13:20279800A>G	ENST00000338910.4	-	8	1546		c.e8+1			NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATGATACATTACCACTGCTCC	0.403																																						.											0													18	20	19					13																	20279800		1778	4021	5799	SO:0001630	splice_region_variant	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1386+1T>C	13.37:g.20279800A>G			Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Splice_Site	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870370	0.72065	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1232	0.72460	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSPC1	19177800	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.069000	0.89491	2.044000	0.60594	0.402000	0.26972	.		0.403	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2		Intron	G	20279800	A	G	20279800	5	3	56	1	0	0	0	0	0	0	1	0	12716	405	14	2	191	2	PSPC1	13	20279800	Splice_Site	SNP	A	TCGA-KO-8406-01A-11D-2310-10		20279800	94890078	55	5574											
IPO5	3843	mdanderson.org	37	chr13	98670796	98670796	+	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	tatgcatctttgatgatgtcAtagaacactgtagtccagcc	11	13	8	9	0	2	3	1	2	1	1	3	3	3	3	2	0	3	2	2	0	4	4			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr13:98670796A>T	ENST00000490680.1	+	23	2739	c.2674A>T	c.(2674-2676)Ata>Tta	p.I892L	IPO5_ENST00000261574.5_Missense_Mutation_p.I910L|IPO5_ENST00000539640.1_Missense_Mutation_p.I767L			O00410	IPO5_HUMAN	importin 5	892					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						TGATGATGTCATAGAACACTG	0.403																																						.											0													156	145	149					13																	98670796		2203	4300	6503	SO:0001583	missense	3843			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.2674A>T	13.37:g.98670796A>T	ENSP00000418393:p.Ile892Leu		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	A	16.62	3.172782	0.57584	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.71	4.49	0.54785	.	0.138033	0.64402	D	0.000005	T	0.53206	0.1782	N	0.24115	0.695	0.44562	D	0.997528	B	0.17852	0.024	B	0.28916	0.096	T	0.45175	-0.9279	10	0.33940	T	0.23	-3.1146	10.5895	0.45302	0.8648:0.0:0.1352:0.0	.	910	O00410-3	.	L	910;892;892;767	ENSP00000261574:I910L;ENSP00000350219:I892L;ENSP00000418393:I892L;ENSP00000445126:I767L	ENSP00000261574:I910L	I	+	1	0	IPO5	97468797	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.739000	0.38217	0.954000	0.37851	0.528000	0.53228	ATA		0.403	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		T	98670796	A	T	98670796	3	4	56	1	0	0	0	0	1	0	0	0	7796	217	8	5	2822	5	IPO5	13	98670796	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	78390996	98670796	16499082	56	5575											
C14orf4	64207	mdanderson.org	37	chr14	77493794	77493794	+	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	tgctgctgctgctgctgctgTtgctgctgctgctgctgctg	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	0	12	13	0	0	0	1	rs377151545|rs28718623|rs71125518	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr14:77493794T>C	ENST00000238647.3	-	1	1240	c.342A>G	c.(340-342)caA>caG	p.Q114Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	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						gctgctgctgttgctgctgct	0.697													T|||	1146	0.228834	0.1649	0.1758	5008	,	,		5976	0.2659		0.2614	False		,,,				2504	0.2812					.											0								-		160,2330		6,148,1091	2	2	2		342	0.6	0	14	dbSNP_125	2	324,4012		7,310,1851	no	coding-synonymous	IRF2BPL	NM_024496.2		13,458,2942	CC,CT,TT		7.4723,6.4257,7.0905		114/797	77493794	484,6342	1245	2168	3413	SO:0001819	synonymous_variant	64207			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.342A>G	14.37:g.77493794T>C			Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																				0.697	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		C	77493794	T	C	77493794	2	2	56	1	0	0	0	0	0	0	0	1	1773	1722	60	2		2	C14orf4	14	77493794	Silent	SNP	T	TCGA-KO-8406-01A-11D-2310-10		77493794	29855746	57	5576											
C14orf153	84334	mdanderson.org	37	chr14	104029449	104029449	+	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	ggcgccgagcgcagggatacGgcgcccagcggggtaagcag	8	2	19	12	6	0	0	0	0	0	0	0	2	0	1	2	5	4	3	2	5	2	2	rs2274267	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr14:104029449G>A	ENST00000409074.2	+	1	151	c.150G>A	c.(148-150)acG>acA	p.T50T	BAG5_ENST00000445922.2_5'Flank|APOPT1_ENST00000556253.2_Silent_p.T37T|BAG5_ENST00000299204.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_Silent_p.T50T|BAG5_ENST00000337322.4_5'Flank|APOPT1_ENST00000247618.4_Silent_p.T37T	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	50					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)											GCAGGGATACGGCGCCCAGCG	0.716													G|||	1108	0.221246	0.1074	0.3343	5008	,	,		12360	0.3512		0.2624	False		,,,				2504	0.1186					.											0								G		557,3355		49,459,1448	4	6	5		150	-0.9	0.2	14	dbSNP_100	5	2012,5966		304,1404,2281	no	coding-synonymous	APOPT1	NM_032374.3		353,1863,3729	AA,AG,GG		25.2194,14.2382,21.6064		50/207	104029449	2569,9321	1956	3989	5945	SO:0001819	synonymous_variant	84334			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.150G>A	14.37:g.104029449G>A			Q53G28	Silent	SNP	ENST00000409074.2	37	CCDS9983.2	553	0.2532051282051282	49	0.09959349593495935	118	0.3259668508287293	189	0.3304195804195804	197	0.2598944591029024	G	6.245	0.413378	0.11812	0.142382	0.252194	ENSG00000256053	ENST00000440963	.	.	.	3.37	-0.865	0.10662	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.53005	P	3.2999999999949736E-5	.	.	.	.	.	.	T	0.40213	-0.9575	4	0.09843	T	0.71	.	0.9102	0.01293	0.2249:0.1788:0.4131:0.1831	rs2274267;rs17095256;rs28362582	.	.	.	S	50	.	ENSP00000388067:G50S	G	+	1	0	C14orf153	103099202	0.296000	0.24398	0.214000	0.23707	0.083000	0.17756	-0.397000	0.07269	-0.499000	0.06623	-0.140000	0.14226	GGC		0.716	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2	NM_032374		A	104029449	G	A	104029449	2	1	56	1	0	0	0	0	0	0	0	1	1753	1103	39	1		1	C14orf153	14	104029449	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10	26535655	104029449	3320091	58	5577											
EPB42	2038	broad.mit.edu	37	chr15	43501531	43501531	+	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	catacacaggtcggcctcggCcggtgagccactgccgcagg	7	5	14	15	4	0	1	0	1	0	0	2	1	0	1	4	5	3	1	4	5	1	1			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr15:43501531C>A	ENST00000441366.2	-	6	998	c.773G>T	c.(772-774)gGc>gTc	p.G258V	EPB42_ENST00000300215.3_Missense_Mutation_p.G288V|EPB42_ENST00000540029.1_Missense_Mutation_p.G180V|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	258					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)		TCGGCCTCGGCCGGTGAGCCA	0.677																																						.											0													46	44	45					15																	43501531		2203	4299	6502	SO:0001583	missense	2038			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.773G>T	15.37:g.43501531C>A	ENSP00000396616:p.Gly258Val		Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528930	0.27387	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.52295	0.67;0.67;0.67	4.69	4.69	0.59074	Transglutaminase-like (1);	0.481828	0.23587	N	0.046600	T	0.62925	0.2468	M	0.78049	2.395	0.22511	N	0.999034	D;D;D;D	0.89917	1.0;0.998;0.997;0.998	D;D;P;D	0.77004	0.989;0.926;0.878;0.926	T	0.54840	-0.8233	10	0.17369	T	0.5	-22.3396	8.9578	0.35829	0.0:0.9008:0.0:0.0992	.	180;258;288;258	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	V	288;180;258;258	ENSP00000300215:G288V;ENSP00000444699:G180V;ENSP00000396616:G258V	ENSP00000300215:G288V	G	-	2	0	EPB42	41288823	0.000000	0.05858	0.896000	0.35187	0.071000	0.16799	0.094000	0.15107	2.568000	0.86640	0.655000	0.94253	GGC		0.677	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		A	43501531	C	A	43501531	3	1	56	1	0	0	0	0	1	0	0	0	5158	739	26	5	1334	5	EPB42	15	43501531	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		43501531	59029861	59	5578											
C16orf54	283897	hgsc.bcm.edu	37	chr16	29755786	29755787	+	Frame_Shift_Ins	INS	-	-	G																															cagctcaccaggcctgtggcINSggggggcctcccctcccagg																								rs551608693		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr16:29755786_29755787insG	ENST00000329410.3	-	2	581_582	c.486_487insC	c.(484-489)cccgccfs	p.A163fs	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	163						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGCCTGTGGCGGGGGGCCTCC	0.718																																						.											0																																										SO:0001589	frameshift_variant	283897			AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.487dupC	16.37:g.29755792_29755792dupG	ENSP00000327506:p.Ala163fs		A6NJR6|Q8NAB0	Frame_Shift_Ins	INS	ENST00000329410.3	37	CCDS10652.1																																																																																				0.718	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		G	29755787	-	G	29755786	7	5	56	1	0	1	1	0	0	0	0	0	1819	768	27	0	191	0	C16orf54	16	29755786	Frame_Shift_Ins	INS	-	TCGA-KO-8406-01A-11D-2310-10		29755786	60598967	60	5579											
CNGB1	1258	broad.mit.edu	37	chr16	57984389	57984389	+	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	tgggcatcctcccagggcggTtcaacctcctctaggacaag	8	8	11	14	1	2	0	1	0	1	0	5	1	5	1	4	4	1	2	4	4	3	2			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr16:57984389T>C	ENST00000251102.8	-	13	990	c.930A>G	c.(928-930)gaA>gaG	p.E310E	CNGB1_ENST00000564448.1_Silent_p.E304E	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	310					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						CCCAGGGCGGTTCAACCTCCT	0.552																																					Colon(156;1293 1853 16336 28962 38659)	.											0													92	94	94					16																	57984389		2015	4176	6191	SO:0001819	synonymous_variant	1258			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.930A>G	16.37:g.57984389T>C			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																				0.552	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		C	57984389	T	C	57984389	2	2	56	1	0	0	0	0	0	0	0	1	3600	1722	60	2		2	CNGB1	16	57984389	Silent	SNP	T	TCGA-KO-8406-01A-11D-2310-10	28228603	57984389	32370364	61	5580											
AP2B1	163	broad.mit.edu	37	chr17	34009754	34009754	+	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	ctcctctggccatccatacaCcactgatgccaaaccagagc	11	7	6	17	0	1	2	0	1	1	1	3	2	3	2	6	1	4	0	6	1	2	1			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr17:34009754C>T	ENST00000262325.7	+	17	2876	c.2323C>T	c.(2323-2325)Cca>Tca	p.P775S	AP2B1_ENST00000312678.8_Missense_Mutation_p.P789S|AP2B1_ENST00000592545.1_Missense_Mutation_p.P751S|AP2B1_ENST00000538556.1_Missense_Mutation_p.P718S|AP2B1_ENST00000589344.1_Missense_Mutation_p.P789S|CTC-507E2.1_ENST00000588135.1_RNA|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.P789S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	775					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)		CATCCATACACCACTGATGCC	0.483																																						.											0													113	92	99					17																	34009754		2203	4300	6503	SO:0001583	missense	163			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.2323C>T	17.37:g.34009754C>T	ENSP00000262325:p.Pro775Ser		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039723	0.75732	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.45	5.45	0.79879	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	0.69305	0.3096	M	0.85859	2.78	0.80722	D	1	D;P;B;P	0.76494	0.999;0.819;0.363;0.67	D;P;B;B	0.75484	0.986;0.593;0.275;0.179	T	0.72663	-0.4225	10	0.52906	T	0.07	-7.6667	18.2747	0.90078	0.0:1.0:0.0:0.0	.	526;751;775;789	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	S	775;789;718;789;526	ENSP00000262325:P775S;ENSP00000314414:P789S;ENSP00000440563:P718S;ENSP00000437413:P789S	ENSP00000262325:P775S	P	+	1	0	AP2B1	31033867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.571000	0.86741	0.650000	0.86243	CCA		0.483	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			T	34009754	C	T	34009754	3	4	56	1	0	0	0	0	1	0	0	0	741	507	18	3	2431	3	AP2B1	17	34009754	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		34009754	47185456	62	5581											
KRT40	125115	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	39140079	39140079	+	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	tagggcaacaggacacagacCttttgttggagatcttcaat	12	11	10	8	0	2	2	1	0	1	2	2	4	2	3	1	3	1	2	1	3	3	5			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr17:39140079C>A	ENST00000398486.2	-	3	607	c.447G>T	c.(445-447)aaG>aaT	p.K149N	KRT40_ENST00000377755.4_Splice_Site_p.K149N	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	149	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGACACAGACCTTTTGTTGGA	0.453																																						.											0													156	146	149					17																	39140079		2083	4229	6312	SO:0001630	splice_region_variant	125115			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.447+1G>T	17.37:g.39140079C>A			Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960620	0.53400	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.89270	-2.49;-2.49	4.77	4.77	0.60923	Filament (1);	0.000000	0.35349	N	0.003279	D	0.95357	0.8493	M	0.91090	3.175	0.44508	D	0.997452	D	0.89917	1.0	D	0.80764	0.994	D	0.95890	0.8906	9	.	.	.	.	15.4557	0.75311	0.0:1.0:0.0:0.0	.	149	Q6A162	K1C40_HUMAN	N	149	ENSP00000366984:K149N;ENSP00000381500:K149N	.	K	-	3	2	KRT40	36393605	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	5.511000	0.67024	2.634000	0.89283	0.591000	0.81541	AAG		0.453	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	Missense_Mutation	A	39140079	C	A	39140079	5	1	56	1	0	0	0	0	0	0	1	0	8478	695	24	5	876	5	KRT40	17	39140079	Splice_Site	SNP	C	TCGA-KO-8406-01A-11D-2310-10	5130325	39140079	42055131	63	5582											
MAPT	4137	broad.mit.edu	37	chr17	44096020	44096020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaatctgagaagcttgActtcaaggacagagtccagt	15	9	10	7	0	2	3	1	2	1	2	3	5	3	4	1	1	1	2	1	1	4	3			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr17:44096020A>G	ENST00000571987.1	+	12	1985	c.1985A>G	c.(1984-1986)gAc>gGc	p.D662G	MAPT_ENST00000431008.3_Missense_Mutation_p.D314G|MAPT_ENST00000344290.5_Missense_Mutation_p.D680G|MAPT_ENST00000351559.5_Missense_Mutation_p.D345G|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000446361.3_Missense_Mutation_p.D287G|MAPT_ENST00000576518.1_Missense_Mutation_p.D245G|MAPT_ENST00000574436.1_Missense_Mutation_p.D345G|MAPT_ENST00000420682.2_Missense_Mutation_p.D316G|MAPT_ENST00000340799.5_Missense_Mutation_p.D316G|MAPT_ENST00000415613.2_Missense_Mutation_p.D680G|MAPT_ENST00000334239.8_Missense_Mutation_p.D256G|MAPT_ENST00000262410.5_Missense_Mutation_p.D662G|MAPT_ENST00000535772.1_Missense_Mutation_p.D314G|MAPT_ENST00000347967.5_Missense_Mutation_p.D220G			P10636	TAU_HUMAN	microtubule-associated protein tau	662					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)	GAGAAGCTTGACTTCAAGGAC	0.488																																						.											0													205	195	198					17																	44096020		2203	4300	6503	SO:0001583	missense	4137			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.1985A>G	17.37:g.44096020A>G	ENSP00000458742:p.Asp662Gly		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380372	0.82682	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	D;D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.02	5.02	0.67125	.	0.000000	0.44902	D	0.000415	D	0.98760	0.9583	M	0.82630	2.6	0.80722	D	1	B;P;P;P;B;D;D	0.63880	0.243;0.856;0.591;0.591;0.321;0.993;0.976	B;B;B;B;B;P;D	0.65874	0.366;0.341;0.312;0.406;0.281;0.879;0.939	D	0.99686	1.1000	10	0.87932	D	0	-24.0164	13.8617	0.63564	1.0:0.0:0.0:0.0	.	680;316;263;256;287;345;662	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	G	680;662;345;316;314;220;263;256;287;316;680;168	ENSP00000340820:D680G;ENSP00000262410:D662G;ENSP00000303214:D345G;ENSP00000340438:D316G;ENSP00000443028:D314G;ENSP00000302706:D220G;ENSP00000408975:D256G;ENSP00000413056:D316G;ENSP00000410838:D680G	ENSP00000262410:D662G	D	+	2	0	MAPT	41451867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.013000	0.59113	0.459000	0.35465	GAC		0.488	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		G	44096020	A	G	44096020	3	3	56	1	0	0	0	0	1	0	0	0	9297	275	10	2	2089	2	MAPT	17	44096020	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	4955941	44096020	37099190	64	5583											
PDCD2L	84306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	34895578	34895578	+	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	ctctgcccaccgtggctgcgCccaggcccgtgtgtcagcgc	3	7	13	18	4	2	0	1	0	1	0	2	0	2	0	4	2	3	1	4	2	0	0			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr19:34895578C>T	ENST00000246535.3	+	2	180	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.P40S|PDCD2L_ENST00000587065.2_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	45					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGGCTGCGCCCAGGCCCGT	0.692																																						.											0													22	23	23					19																	34895578		2199	4292	6491	SO:0001583	missense	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.133C>T	19.37:g.34895578C>T	ENSP00000246535:p.Pro45Ser			Missense_Mutation	SNP	ENST00000246535.3	37	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996698	0.54147	.	.	ENSG00000126249	ENST00000246535	.	.	.	4.41	3.34	0.38264	.	0.264241	0.37393	N	0.002104	T	0.33381	0.0861	L	0.58969	1.84	0.09310	N	1	P	0.35272	0.493	B	0.29785	0.107	T	0.25222	-1.0138	9	0.46703	T	0.11	-16.4667	7.2931	0.26376	0.1937:0.6187:0.1876:0.0	.	45	Q9BRP1	PDD2L_HUMAN	S	45	.	ENSP00000246535:P45S	P	+	1	0	PDCD2L	39587418	0.000000	0.05858	0.032000	0.17829	0.849000	0.48306	0.577000	0.23758	1.007000	0.39238	0.313000	0.20887	CCC		0.692	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		T	34895578	C	T	34895578	3	4	56	1	0	0	0	0	1	0	0	0	11620	739	26	3	139	3	PDCD2L	19	34895578	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10		34895578	24233405	65	5584											
MYH14	79784	mdanderson.org	37	chr19	50713655	50713655	+	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	accatgtcggtgcccgggcgGaaggcgccccccaggccggg	5	3	17	16	5	0	0	0	0	0	0	1	1	0	1	6	6	1	0	6	6	1	0	rs8106196	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr19:50713655G>C	ENST00000596571.1	+	1	33	c.33G>C	c.(31-33)cgG>cgC	p.R11R	MYH14_ENST00000440075.2_Silent_p.R11R|MYH14_ENST00000598205.1_Silent_p.R11R|MYH14_ENST00000376970.2_Silent_p.R11R|MYH14_ENST00000601313.1_Silent_p.R11R|MYH14_ENST00000425460.1_Silent_p.R11R|MYH14_ENST00000262269.8_Silent_p.R11R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	11					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)		TGCCCGGGCGGAAGGCGCCCC	0.751													G|||	155	0.0309505	0.0651	0.0303	5008	,	,		8792	0		0.0338	False		,,,				2504	0.0143					.											0								G	,,	124,2870		1,122,1374	4	5	4		33,33,33	2	1	19	dbSNP_116	4	171,6701		2,167,3267	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	3,289,4641	CC,CG,GG		2.4884,4.1416,2.9901	,,	11/2004,11/2037,11/1996	50713655	295,9571	1497	3436	4933	SO:0001819	synonymous_variant	79784			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.33G>C	19.37:g.50713655G>C			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																				0.751	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		C	50713655	G	C	50713655	2	2	56	1	0	0	0	0	0	0	0	1	10033	1161	41	5		5	MYH14	19	50713655	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10	15818077	50713655	8415328	66	5585											
SPIB	6689	broad.mit.edu	37	chr19	50931537	50931537	+	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	gcgagatccgcaaggtcaagCgcaagctcacctaccagttc	11	6	10	14	3	2	1	2	0	0	1	4	2	3	1	3	1	3	4	3	1	4	2			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr19:50931537C>A	ENST00000595883.1	+	6	758	c.733C>A	c.(733-735)Cgc>Agc	p.R245S	CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.A379E|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000439922.2_Missense_Mutation_p.R154S	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)	245					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)		CAAGGTCAAGCGCAAGCTCAC	0.682																																						.											0													24	18	20					19																	50931537		2120	4121	6241	SO:0001583	missense	6689				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.733C>A	19.37:g.50931537C>A	ENSP00000471921:p.Arg245Ser		A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	25.3	4.625445	0.87560	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T	0.23552	1.9	4.61	3.49	0.39957	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.176247	0.26560	N	0.023682	T	0.35068	0.0919	L	0.39633	1.23	0.41749	D	0.989658	D;D	0.61697	0.99;0.99	P;P	0.61800	0.859;0.894	T	0.11372	-1.0590	10	0.87932	D	0	-0.074	10.1039	0.42521	0.3729:0.6271:0.0:0.0	.	154;245	B4DUG6;Q01892	.;SPIB_HUMAN	S	245;154	ENSP00000391877:R154S	ENSP00000270632:R245S	R	+	1	0	SPIB	55623349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.306000	0.65756	2.267000	0.75376	0.561000	0.74099	CGC		0.682	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		A	50931537	C	A	50931537	3	1	56	1	0	0	0	0	1	0	0	0	15049	768	27	5	755	5	SPIB	19	50931537	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	217882	50931537	8197446	67	5586											
GP6	51206	mdanderson.org	37	chr19	55525596	55525596	+	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	attctcccacctcagcccccTgagttgctgggagtataggg	7	10	11	13	0	2	1	1	1	1	0	3	2	2	2	4	2	2	3	4	2	2	4	rs1654412	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr19:55525596T>C	ENST00000417454.1	-	0	1740				GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.R573G|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ctcagccccctgagttgctgg	0.522													T|||	3589	0.716653	0.5	0.8228	5008	,	,		16885	0.8075		0.8459	False		,,,				2504	0.7076					.											0								T	GLY/ARG,	2026,1786		560,906,440	10	9	9		1717,	-0.5	0	19	dbSNP_89	9	6725,1383		2826,1073,155	no	missense,utr-3	GP6	NM_001083899.1,NM_016363.4	125,	3386,1979,595	CC,CT,TT		17.0572,46.852,26.5856	possibly-damaging,	573/621,	55525596	8751,3169	1906	4054	5960	SO:0001624	3_prime_UTR_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*693A>G	19.37:g.55525596T>C			Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	CCDS46184.1	1670	0.7646520146520146	264	0.5365853658536586	305	0.8425414364640884	467	0.8164335664335665	634	0.8364116094986808	T	6.398	0.441597	0.12164	0.53148	0.829428	ENSG00000088053	ENST00000310373	T	0.37915	1.17	0.235	-0.47	0.12131	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	P	0.37500	0.597	B	0.39119	0.291	T	0.44817	-0.9303	6	0.02654	T	1	.	.	.	.	rs1654412	573	Q9HCN6-3	.	G	573	ENSP00000308782:R573G	ENSP00000308782:R573G	R	-	1	2	GP6	60217408	0.009000	0.17119	0.009000	0.14445	0.009000	0.06853	-0.829000	0.04415	-0.912000	0.03837	-0.940000	0.02684	AGG		0.522	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			C	55525596	T	C	55525596	1	2	56	0	1	0	0	0	0	0	0	0	6584	1579	55	2		2	GP6	19	55525596	3'UTR	SNP	T	TCGA-KO-8406-01A-11D-2310-10	4594059	55525596	3603387	68	5587											
SIRPB1	10326	mdanderson.org	37	chr20	1559300	1559300	+	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	gctgcaactgatacggacttTtcaggctgaatcacctgtag	10	11	10	10	1	2	2	2	2	0	0	2	3	2	3	1	2	3	4	1	2	4	4	rs202017659	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr20:1559300T>G	ENST00000381605.4	-	2	181	c.117A>C	c.(115-117)gaA>gaC	p.E39D	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E39D|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E38D|SIRPB1_ENST00000381603.3_Missense_Mutation_p.E39D	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	39	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ATACGGACTTTTCAGGCTGAA	0.532													t|||	53	0.0105831	0.0061	0.0101	5008	,	,		16142	0.0089		0.0119	False		,,,				2504	0.0174					.											0													87	81	83					20																	1559300		2198	4243	6441	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.117A>C	20.37:g.1559300T>G	ENSP00000371018:p.Glu39Asp		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	4.035	0.003997	0.07866	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.65732	-0.17;-0.17;-0.17	2.36	-4.72	0.03269	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.862007	0.10312	N	0.689832	T	0.43277	0.1240	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.005	T	0.17167	-1.0378	10	0.23302	T	0.38	.	9.5019	0.39022	0.0:0.3277:0.5576:0.1147	.	39;39	O00241;O00241-2	SIRB1_HUMAN;.	D	39;39;38	ENSP00000371018:E39D;ENSP00000371016:E39D;ENSP00000262929:E38D	ENSP00000262929:E38D	E	-	3	2	SIRPB1	1507300	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.343000	0.02642	-4.273000	0.00060	-4.604000	0.00004	GAA		0.532	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		G	1559300	T	G	1559300	3	3	56	1	0	0	0	0	1	0	0	0	14333	1838	64	5	1095	5	SIRPB1	20	1559300	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10		1559300	61466220	69	5588											
DSTN	11034	mdanderson.org	37	chr20	17581509	17581509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgtctcagtgcagacAaaaagtgcatcattgtagaa	13	14	8	6	0	2	2	2	0	1	2	3	2	2	2	0	0	2	3	0	0	4	5			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr20:17581509A>G	ENST00000246069.7	+	2	476	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	DSTN_ENST00000474024.1_Missense_Mutation_p.K27E	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	44	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CAGTGCAGACAAAAAGTGCAT	0.383																																						.											0													118	111	113					20																	17581509		2203	4300	6503	SO:0001583	missense	11034			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.130A>G	20.37:g.17581509A>G	ENSP00000246069:p.Lys44Glu		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543878	0.45280	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.38077	1.16;1.16	5.65	5.65	0.86999	Actin-binding, cofilin/tropomyosin type (3);	0.178567	0.52532	D	0.000069	T	0.31295	0.0792	L	0.31294	0.92	0.53005	D	0.999965	B	0.17852	0.024	B	0.25506	0.061	T	0.06625	-1.0816	10	0.49607	T	0.09	-19.5102	15.0613	0.71955	1.0:0.0:0.0:0.0	.	44	P60981	DEST_HUMAN	E	44;27	ENSP00000246069:K44E;ENSP00000444808:K27E	ENSP00000246069:K44E	K	+	1	0	DSTN	17529509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.053000	0.57427	2.166000	0.68216	0.460000	0.39030	AAA		0.383	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		G	17581509	A	G	17581509	3	3	56	1	0	0	0	0	1	0	0	0	4784	131	5	4	136	4	DSTN	20	17581509	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	16022209	17581509	45444011	70	5589											
PRIC285	85441	broad.mit.edu	37	chr20	62200278	62200278	+	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	cctctgcgtacagtgctcccGgaggcgcgaagagcatgttc	7	8	13	13	4	1	1	0	0	1	1	3	3	2	2	2	2	4	4	2	2	2	2	rs199977542	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr20:62200278G>A	ENST00000467148.1	-	5	1232	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	388					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)										CAGTGCTCCCGGAGGCGCGAA	0.677													G|||	2	0.000399361	0	0	5008	,	,		17049	0.001		0	False		,,,				2504	0.001					.											0													47	47	47					20																	62200278		2180	4275	6455	SO:0001583	missense	85441			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.1163C>T	20.37:g.62200278G>A	ENSP00000417401:p.Pro388Leu		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.935	0.964382	0.18583	.	.	ENSG00000130589	ENST00000467148	T	0.79352	-1.26	4.8	2.77	0.32553	.	0.952674	0.08784	N	0.894294	T	0.74884	0.3775	L	0.50333	1.59	0.09310	N	1	D	0.56035	0.974	B	0.42798	0.398	T	0.62229	-0.6898	10	0.59425	D	0.04	-10.8048	12.8997	0.58119	0.0:0.0:0.4381:0.5619	.	388	Q9BYK8	PR285_HUMAN	L	388	ENSP00000417401:P388L	ENSP00000417401:P388L	P	-	2	0	RP4-697K14.7	61670722	0.003000	0.15002	0.006000	0.13384	0.062000	0.15995	1.126000	0.31344	0.424000	0.26061	0.462000	0.41574	CCG		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62200278	G	A	62200278	3	1	56	1	0	0	0	0	1	0	0	0	12485	1116	39	1	6869	1	PRIC285	20	62200278	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	44618769	62200278	825242	71	5590											
PRPF6	57473	broad.mit.edu	37	chr20	62648170	62648170	+	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	gattgaggaggaagatcggaAgcatacctggatggaggatg	13	7	17	4	1	0	2	0	1	0	1	1	9	0	8	1	6	2	1	1	6	3	2			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr20:62648170A>G	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.K540R			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)					GAAGATCGGAAGCATACCTGG	0.547																																						.											0													186	153	165					20																	62648170		2203	4300	6503	SO:0001627	intron_variant	24148			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+31887T>C	20.37:g.62648170A>G			Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627152	0.66901	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34472	1.36;1.36	6.16	5.03	0.67393	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.55213	1.73	0.80722	D	1	P;B	0.40534	0.72;0.074	B;B	0.44224	0.444;0.063	T	0.19418	-1.0306	10	0.39692	T	0.17	.	13.7549	0.62930	0.8724:0.1276:0.0:0.0	.	540;540	O94906-2;O94906	.;PRP6_HUMAN	R	540	ENSP00000266079:K540R;ENSP00000446216:K540R	ENSP00000266079:K540R	K	+	2	0	PRPF6	62118614	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.123000	0.77176	2.367000	0.80283	0.528000	0.53228	AAG		0.547	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		G	62648170	A	G	62648170	1	3	56	0	1	0	0	0	0	0	0	0	12574	72	3	2		2	PRPF6	20	62648170	Intron	SNP	A	TCGA-KO-8406-01A-11D-2310-10	447892	62648170	377350	72	5591											
FTCD	10841	mdanderson.org	37	chr21	47558473	47558473	+	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	1	0	0	0	0	0	0	0	0	caccgggccagttcctgcagGgccggccacagcgaggccac	7	3	14	17	3	0	0	0	0	0	0	1	1	1	0	6	4	2	2	6	4	0	1	rs1047179	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr21:47558473G>C	ENST00000291670.5	-	12	1435	c.1392C>G	c.(1390-1392)gcC>gcG	p.A464A	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Missense_Mutation_p.P450A|FTCD_ENST00000397746.3_Silent_p.A464A|FTCD_ENST00000359679.2_Silent_p.A464A|FTCD_ENST00000355384.2_Missense_Mutation_p.P450A|FTCD_ENST00000397748.1_Silent_p.A464A	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	464	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GTTCCTGCAGGGCCGGCCACA	0.711													C|||	2409	0.48103	0.5287	0.6599	5008	,	,		12121	0.4296		0.4771	False		,,,				2504	0.3466					.											0								C	,	2117,2151		576,965,593	6	9	8		1392,1392	-6.6	0	21	dbSNP_86	8	3866,4560		989,1888,1336	no	coding-synonymous,coding-synonymous	FTCD	NM_006657.2,NM_206965.1	,	1565,2853,1929	CC,CG,GG		45.8818,49.6017,47.1325	,	464/542,464/542	47558473	5983,6711	2134	4213	6347	SO:0001819	synonymous_variant	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1392C>G	21.37:g.47558473G>C			B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	ENST00000291670.5	37	CCDS13731.1	1071|1071	0.49038461538461536|0.49038461538461536	259|259	0.5264227642276422|0.5264227642276422	228|228	0.6298342541436464|0.6298342541436464	226|226	0.3951048951048951|0.3951048951048951	358|358	0.47229551451187335|0.47229551451187335	C|C	0|0	-2.731311|-2.731311	0.00089|0.00089	0.496017|0.496017	0.458818|0.458818	ENSG00000160282|ENSG00000160282	ENST00000355384;ENST00000397743|ENST00000446405	D;D|.	0.83673|.	-1.75;-1.75|.	4.23|4.23	-6.55|-6.55	0.01854|0.01854	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.41963|0.41963	-0.9479|-0.9479	6|3	.|.	.|.	.|.	.|.	3.3951|3.3951	0.07303|0.07303	0.1569:0.1253:0.1552:0.5626|0.1569:0.1253:0.1552:0.5626	rs1047179;rs3187204;rs17411992;rs57145963|rs1047179;rs3187204;rs17411992;rs57145963	450|.	B7WPK3|.	.|.	A|R	450|5	ENSP00000347545:P450A;ENSP00000380851:P450A|.	.|.	P|P	-|-	1|2	0|0	FTCD|FTCD	46382901|46382901	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.003000|0.003000	0.03518|0.03518	-2.827000|-2.827000	0.00746|0.00746	-1.536000|-1.536000	0.01738|0.01738	-2.002000|-2.002000	0.00443|0.00443	CCT|CCC		0.711	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		C	47558473	G	C	47558473	2	2	56	1	0	0	0	0	0	0	0	1	6081	1219	43	5		5	FTCD	21	47558473	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10		47558473	571422	73	5592											
GGTLC2	91227	mdanderson.org	37	chr22	22988911	22988911	+	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	aagcccgagttctacacgccGgttgatgggggcactgctca	8	8	13	12	3	2	1	1	1	1	0	2	2	2	1	2	3	3	4	2	3	2	3	rs9612135	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr22:22988911G>A	ENST00000480559.1	+	1	96	c.96G>A	c.(94-96)ccG>ccA	p.P32P	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Silent_p.P32P	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	32					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)	p.P32P(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TCTACACGCCGGTTGATGGGG	0.617													.|||	1847	0.36881	0.1505	0.6124	5008	,	,		7239	0.5109		0.4056	False		,,,				2504	0.3067					.											1	Substitution - coding silent(1)	prostate(1)											32	17	22					22																	22988911		2173	3963	6136	SO:0001819	synonymous_variant	91227			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.96G>A	22.37:g.22988911G>A			A1A516|A2VCM9|Q5NV76|Q6ISH0	Silent	SNP	ENST00000480559.1	37	CCDS13802.2																																																																																				0.617	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		A	22988911	G	A	22988911	2	1	56	1	0	0	0	0	0	0	0	1	6366	1103	39	1		1	GGTLC2	22	22988911	Silent	SNP	G	TCGA-KO-8406-01A-11D-2310-10		22988911	28315655	74	5593											
SGSM1	129049	broad.mit.edu	37	chr22	25294500	25294500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaacgaggtgtcccctGtgtcttccagcggcgtcacc	5	9	11	16	3	2	0	1	0	1	0	4	1	4	0	5	2	3	0	5	2	1	1			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr22:25294500G>T	ENST00000400359.4	+	20	2756	c.2749G>T	c.(2749-2751)Gtg>Ttg	p.V917L	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Missense_Mutation_p.V862L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	917	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					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						GGTGTCCCCTGTGTCTTCCAG	0.562																																						.											0													68	73	71					22																	25294500		2042	4189	6231	SO:0001583	missense	129049			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.2749G>T	22.37:g.25294500G>T	ENSP00000383212:p.Val917Leu		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393481	0.42410	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06849	3.26;3.25	5.09	5.09	0.68999	Rab-GAP/TBC domain (3);	0.531595	0.17307	U	0.179010	T	0.08403	0.0209	L	0.27053	0.805	0.33206	D	0.552802	B;B;B;B	0.33637	0.42;0.21;0.095;0.304	B;B;B;B	0.37239	0.244;0.212;0.077;0.111	T	0.23547	-1.0185	10	0.23891	T	0.37	-29.1052	15.091	0.72195	0.0:0.142:0.858:0.0	.	862;917;934;917	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	L	917;862;917	ENSP00000383211:V862L;ENSP00000383212:V917L	ENSP00000383211:V862L	V	+	1	0	SGSM1	23624500	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	4.280000	0.58959	2.541000	0.85698	0.591000	0.81541	GTG		0.562	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		T	25294500	G	T	25294500	3	4	56	1	0	0	0	0	1	0	0	0	14222	1377	48	5	2827	5	SGSM1	22	25294500	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10	2305589	25294500	26010066	75	5594											
C22orf33	339669	mdanderson.org	37	chr22	37387257	37387257	+	Missense_Mutation	SNP	T	T	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	tggatttgctgttttctccaTatttctcttccagtgctttc	4	21	6	10	0	2	0	0	0	2	0	6	1	3	1	2	1	2	3	2	1	1	7	rs9610624	byFrequency	TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr22:37387257T>C	ENST00000405091.2	-	7	1057	c.806A>G	c.(805-807)tAt>tGt	p.Y269C	TEX33_ENST00000381821.1_Missense_Mutation_p.Y269C|TEX33_ENST00000402860.3_Missense_Mutation_p.Y184C			O43247	TEX33_HUMAN	testis expressed 33	269																	GTTTTCTCCATATTTCTCTTC	0.438													T|||	585	0.116813	0.1369	0.1801	5008	,	,		21699	0.0813		0.0885	False		,,,				2504	0.1104					.											0								T	CYS/TYR,CYS/TYR	661,3745	281.6+/-276.1	52,557,1594	181	174	176		806,551	0.9	0.1	22	dbSNP_119	176	671,7929	168.4+/-220.0	28,615,3657	yes	missense,missense	C22orf33	NM_001163857.1,NM_178552.3	194,194	80,1172,5251	CC,CT,TT		7.8023,15.0023,10.2414	probably-damaging,probably-damaging	269/281,184/196	37387257	1332,11674	2203	4300	6503	SO:0001583	missense	339669			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.806A>G	22.37:g.37387257T>C	ENSP00000386118:p.Tyr269Cys		B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	CCDS54524.1	229|229	0.10485347985347986|0.10485347985347986	68|68	0.13821138211382114|0.13821138211382114	56|56	0.15469613259668508|0.15469613259668508	39|39	0.06818181818181818|0.06818181818181818	66|66	0.0870712401055409|0.0870712401055409	T|T	10.31|10.31	1.315712|1.315712	0.23908|0.23908	0.150023|0.150023	0.078023|0.078023	ENSG00000185264|ENSG00000185264	ENST00000442538|ENST00000402860;ENST00000405091;ENST00000381821	.|.	.|.	.|.	4.43|4.43	0.878|0.878	0.19150|0.19150	.|.	.|1.510860	.|0.04364	.|N	.|0.357914	T|T	0.00210|0.00210	0.0006|0.0006	L|L	0.27053|0.27053	0.805|0.805	0.49798|0.49798	P|P	1.7800000000001148E-4|1.7800000000001148E-4	.|D	.|0.61697	.|0.99	.|P	.|0.50192	.|0.634	T|T	0.08371|0.08371	-1.0725|-1.0725	4|8	.|0.59425	.|D	.|0.04	2.9586|2.9586	8.6414|8.6414	0.33978|0.33978	0.7144:0.0:0.0:0.2856|0.7144:0.0:0.0:0.2856	rs9610624;rs52812150;rs58780254;rs9610624|rs9610624;rs52812150;rs58780254;rs9610624	.|269	.|O43247	.|EAN57_HUMAN	M|C	127|184;269;269	.|.	.|ENSP00000371243:Y269C	I|Y	-|-	3|2	3|0	C22orf33|C22orf33	35717203|35717203	0.022000|0.022000	0.18835|0.18835	0.062000|0.062000	0.19696|0.19696	0.175000|0.175000	0.22909|0.22909	0.127000|0.127000	0.15790|0.15790	-0.141000|-0.141000	0.11374|0.11374	0.460000|0.460000	0.39030|0.39030	ATA|TAT		0.438	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		C	37387257	T	C	37387257	3	2	56	1	0	0	0	0	1	0	0	0	2145	1406	49	4	40	4	C22orf33	22	37387257	Missense_Mutation	SNP	T	TCGA-KO-8406-01A-11D-2310-10	12092757	37387257	13917309	76	5595											
TUBGCP6	85378	ucsc.edu	37	chr22	50666367	50666367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaagtttcttgaagagaaAaccaatggtgaggaggctca	14	8	12	7	0	2	3	1	2	1	1	2	5	2	4	2	3	1	2	2	3	5	2			TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chr22:50666367A>G	ENST00000248846.5	-	5	1485	c.1381T>C	c.(1381-1383)Ttt>Ctt	p.F461L	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.F461L|TUBGCP6_ENST00000491449.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	461					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)		TTGAAGAGAAAACCAATGGTG	0.622																																						.											0													50	42	45					22																	50666367		2199	4298	6497	SO:0001583	missense	85378			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.1381T>C	22.37:g.50666367A>G	ENSP00000248846:p.Phe461Leu		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861449	0.91433	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.06849	3.25;3.25	5.44	5.44	0.79542	.	0.658896	0.16003	N	0.234200	T	0.19685	0.0473	L	0.47716	1.5	0.47308	D	0.999382	D;D	0.67145	0.991;0.996	D;D	0.63033	0.91;0.91	T	0.02966	-1.1088	10	0.20046	T	0.44	.	15.1606	0.72782	1.0:0.0:0.0:0.0	.	461;461	B2RWN4;Q96RT7	.;GCP6_HUMAN	L	461	ENSP00000248846:F461L;ENSP00000397387:F461L	ENSP00000248846:F461L	F	-	1	0	TUBGCP6	49008494	1.000000	0.71417	0.874000	0.34290	0.955000	0.61496	7.402000	0.79972	2.065000	0.61736	0.260000	0.18958	TTT		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		G	50666367	A	G	50666367	3	3	56	1	0	0	0	0	1	0	0	0	16767	14	1	4	4162	4	TUBGCP6	22	50666367	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	13279110	50666367	638199	77	5596											
VCX3B	425054	mdanderson.org	37	chrX	8434368	8434368	+	Missense_Mutation	SNP	G	G	C																															aaccactgagtcaggagagcGagatggaagaaccactgagt																								rs199956874		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chrX:8434368G>C	ENST00000381032.1	+	3	992	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.E197Q|VCX3B_ENST00000444481.1_Missense_Mutation_p.E199Q	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	229	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						TCAGGAGAGCGAGATGGAAGA	0.552																																						.											0													107	224	188					X																	8434368		1821	4116	5937	SO:0001583	missense	425054				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.685G>C	X.37:g.8434368G>C	ENSP00000370420:p.Glu229Gln		C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	0.117	-1.130626	0.01756	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.17213	2.29;2.29;2.29	0.601	0.601	0.17529	.	.	.	.	.	T	0.06280	0.0162	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.44360	-0.9333	9	0.11794	T	0.64	.	6.2349	0.20758	0.0:0.3789:0.621:0.0	.	199	Q9H321	VCX3B_HUMAN	Q	229;199;197	ENSP00000370420:E229Q;ENSP00000414780:E199Q;ENSP00000370417:E197Q	ENSP00000370417:E197Q	E	+	1	0	VCX3B	8394368	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	-1.478000	0.02329	-0.223000	0.09943	-1.002000	0.02502	GAG		0.552	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			C	8434368	G	C	8434368	3	2	56	1	0	0	0	0	1	0	0	0	17142	1059	37	5	605	5	VCX3B	23	8434368	Missense_Mutation	SNP	G	TCGA-KO-8406-01A-11D-2310-10		8434368	146836192	78	5597	145	2									
VCX3B	425054	mdanderson.org	37	chrX	8434371	8434371	+	Missense_Mutation	SNP	A	A	G																															cactgagtcaggagagcgagAtggaagaaccactgagtcag																								rs113934664		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chrX:8434371A>G	ENST00000381032.1	+	3	995	c.688A>G	c.(688-690)Atg>Gtg	p.M230V	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.M198V|VCX3B_ENST00000444481.1_Missense_Mutation_p.M200V	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	230	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						GGAGAGCGAGATGGAAGAACC	0.562													-|||	45	0.0119205	0.0257	0.0029	3775	,	,		6024	0.005		0.002	False		,,,				2504	0.002					.											0													110	235	197					X																	8434371		1822	4119	5941	SO:0001583	missense	425054				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.688A>G	X.37:g.8434371A>G	ENSP00000370420:p.Met230Val		C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	0	-2.811973	0.00073	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.12361	2.69;2.69;2.69	0.601	-1.2	0.09554	.	.	.	.	.	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.37454	-0.9705	9	0.26408	T	0.33	.	3.1275	0.06412	0.4758:0.2846:0.2396:0.0	.	200	Q9H321	VCX3B_HUMAN	V	230;200;198	ENSP00000370420:M230V;ENSP00000414780:M200V;ENSP00000370417:M198V	ENSP00000370417:M198V	M	+	1	0	VCX3B	8394371	0.012000	0.17670	0.003000	0.11579	0.011000	0.07611	-1.907000	0.01589	-1.815000	0.01222	-1.090000	0.02178	ATG		0.562	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			G	8434371	A	G	8434371	3	3	56	1	0	0	0	0	1	0	0	0	17142	333	12	4	608	4	VCX3B	23	8434371	Missense_Mutation	SNP	A	TCGA-KO-8406-01A-11D-2310-10	3	8434371	146836189	79	5598	145	2									
SMARCA1	6594	broad.mit.edu	37	chrX	128614736	128614736	+	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	tttccaggagctcaaataagCgtggtgggaaaaattgaaaa	16	9	11	5	1	1	1	1	1	0	0	2	3	2	3	1	3	2	1	1	3	6	3	rs375431295		TCGA-KO-8406-01A-11D-2310-10	TCGA-KO-8406-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	c29f6ed6-880d-4f03-977e-1087738e5e60	20a022aa-6b2c-4b4d-9a10-9dad1867a342	g.chrX:128614736C>T	ENST00000371122.4	-	19	2513	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R783H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R783H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	795					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						CTCAAATAAGCGTGGTGGGAA	0.323																																						.											0								C	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	60	61	61		2384,2348	5.1	1	X		61	1,6727		0,1,2427,1872	no	missense,missense	SMARCA1	NM_003069.3,NM_139035.2	29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	795/1055,783/1043	128614736	1,10562	2203	4300	6503	SO:0001583	missense	6594			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.2384G>A	X.37:g.128614736C>T	ENSP00000360163:p.Arg795His		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234113	0.95207	0.0	1.49E-4	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92199	-2.99;-2.99;-2.98;-2.97	5.1	5.1	0.69264	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.64402	D	0.000018	D	0.96750	0.8939	M	0.93375	3.41	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.996;0.997	P;P;P;P	0.60886	0.88;0.88;0.809;0.88	D	0.97940	1.0325	10	0.87932	D	0	-5.865	17.6491	0.88158	0.0:1.0:0.0:0.0	.	774;795;783;795	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	783;783;795;774	ENSP00000360162:R783H;ENSP00000360164:R783H;ENSP00000360163:R795H;ENSP00000404275:R774H	ENSP00000360162:R783H	R	-	2	0	SMARCA1	128442417	1.000000	0.71417	0.977000	0.42913	0.978000	0.69477	6.045000	0.71020	2.096000	0.63516	0.529000	0.55759	CGC		0.323	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		T	128614736	C	T	128614736	3	4	56	1	0	0	0	0	1	0	0	0	14768	768	27	1	804	1	SMARCA1	23	128614736	Missense_Mutation	SNP	C	TCGA-KO-8406-01A-11D-2310-10	120180365	128614736	26655824	80	5599											
TAS1R3	83756	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr1	1268041	1268041	+	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	cccgcagtgtgactgcatcaCgctgcagaacgtgagcgcag	9	6	13	13	4	1	3	1	2	0	1	1	3	1	3	1	0	4	5	1	0	1	0			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:1268041C>T	ENST00000339381.5	+	3	1162	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	377					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)		GACTGCATCACGCTGCAGAAC	0.642																																						.											0													24	22	23					1																	1268041		2193	4292	6485	SO:0001583	missense	83756			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.1130C>T	1.37:g.1268041C>T	ENSP00000344411:p.Thr377Met		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	5.099	0.203895	0.09704	.	.	ENSG00000169962	ENST00000339381	D	0.81996	-1.56	4.71	2.73	0.32206	Extracellular ligand-binding receptor (1);	3.801630	0.00520	N	0.000181	T	0.74520	0.3727	L	0.34521	1.04	0.09310	N	1	P	0.45212	0.853	B	0.37198	0.243	T	0.64433	-0.6409	10	0.30854	T	0.27	.	7.1638	0.25679	0.0:0.6293:0.1846:0.1861	.	377	Q7RTX0	TS1R3_HUMAN	M	377	ENSP00000344411:T377M	ENSP00000344411:T377M	T	+	2	0	TAS1R3	1257904	0.004000	0.15560	0.002000	0.10522	0.005000	0.04900	0.968000	0.29357	0.948000	0.37687	0.561000	0.74099	ACG		0.642	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			T	1268041	C	T	1268041	3	4	57	1	0	0	0	0	1	0	0	0	15561	536	19	1	1140	1	TAS1R3	1	1268041	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		1268041	247982580	1	5600											
ATP13A2	23400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	17331882	17331882	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcacctctttgtctcttAtttcgataacgagtgtttcg	6	18	6	11	3	3	0	1	0	3	0	7	2	3	0	1	0	1	1	1	0	2	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:17331882A>G	ENST00000326735.8	-	3	308	c.275T>C	c.(274-276)aTa>aCa	p.I92T	ATP13A2_ENST00000341676.5_Missense_Mutation_p.I92T|ATP13A2_ENST00000452699.1_Missense_Mutation_p.I92T|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	92					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)		TTTGTCTCTTATTTCGATAAC	0.637																																						.											0													28	31	30					1																	17331882		2202	4299	6501	SO:0001583	missense	23400			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.275T>C	1.37:g.17331882A>G	ENSP00000327214:p.Ile92Thr		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	A	6.938	0.542775	0.13250	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	D;D;D	0.92545	-2.8;-3.06;-2.79	3.85	-1.4	0.08968	.	0.722701	0.12684	N	0.447692	T	0.79269	0.4417	N	0.16098	0.37	0.25600	N	0.986609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.14023	0.01;0.001;0.001	T	0.64368	-0.6424	10	0.02654	T	1	-3.0825	8.3771	0.32449	0.654:0.0:0.346:0.0	.	92;92;92	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	T	92	ENSP00000327214:I92T;ENSP00000341115:I92T;ENSP00000413307:I92T	ENSP00000327214:I92T	I	-	2	0	ATP13A2	17204469	0.994000	0.37717	0.993000	0.49108	0.990000	0.78478	0.255000	0.18333	-0.382000	0.07870	0.402000	0.26972	ATA		0.637	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		G	17331882	A	G	17331882	3	3	57	1	0	0	0	0	1	0	0	0	1124	449	16	4	3611	4	ATP13A2	1	17331882	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	16063841	17331882	231918739	2	5601											
HIPK1	204851	broad.mit.edu	37	chr1	114483676	114483676	+	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	tattaaaatcttgaagaaccAcccctcctatgccagacaag	15	9	5	12	0	1	3	0	1	1	2	2	3	2	3	5	0	2	0	5	0	7	4			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:114483676A>C	ENST00000369558.1	+	2	903	c.671A>C	c.(670-672)cAc>cCc	p.H224P	HIPK1_ENST00000369561.4_Missense_Mutation_p.H224P|HIPK1_ENST00000369555.2_Missense_Mutation_p.H224P|HIPK1_ENST00000369559.4_Missense_Mutation_p.H224P|HIPK1_ENST00000426820.2_Missense_Mutation_p.H224P|HIPK1_ENST00000369554.2_Missense_Mutation_p.H224P			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGAAGAACCACCCCTCCTAT	0.478																																						.											0													83	85	85					1																	114483676		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.671A>C	1.37:g.114483676A>C	ENSP00000358571:p.His224Pro		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984379	0.74474	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	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	0.64402	D	0.000001	T	0.61602	0.2360	N	0.21448	0.665	0.80722	D	1	D;D	0.69078	0.997;0.988	D;D	0.81914	0.995;0.977	T	0.69756	-0.5059	10	0.87932	D	0	.	16.1738	0.81836	1.0:0.0:0.0:0.0	.	224;224	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	P	295;224;224;224;224;224;224	ENSP00000407442:H295P;ENSP00000358572:H224P;ENSP00000409673:H224P;ENSP00000358567:H224P;ENSP00000358568:H224P;ENSP00000358571:H224P;ENSP00000358574:H224P	ENSP00000358567:H224P	H	+	2	0	HIPK1	114285199	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.249000	0.95470	2.221000	0.72209	0.455000	0.32223	CAC		0.478	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		C	114483676	A	C	114483676	3	2	57	1	0	0	0	0	1	0	0	0	7116	159	6	5	673	5	HIPK1	1	114483676	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	97151794	114483676	134766945	3	5602											
SYT11	23208	bcgsc.ca	37	chr1	155837927	155837927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatatacccagagacccTcagcaacaagaagaaaatca	19	4	6	12	0	2	3	2	0	0	3	2	4	2	3	2	0	4	2	2	0	7	2			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:155837927T>C	ENST00000368324.4	+	2	459	c.206T>C	c.(205-207)cTc>cCc	p.L69P	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	69					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCAGAGACCCTCAGCAACAAG	0.517																																						.											0													154	140	145					1																	155837927		2203	4300	6503	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.206T>C	1.37:g.155837927T>C	ENSP00000357307:p.Leu69Pro		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015340	0.75161	.	.	ENSG00000132718	ENST00000368324	T	0.59083	0.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67352	-0.5692	10	0.52906	T	0.07	.	15.7349	0.77834	0.0:0.0:0.0:1.0	.	69	Q9BT88	SYT11_HUMAN	P	69	ENSP00000357307:L69P	ENSP00000357307:L69P	L	+	2	0	SYT11	154104551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.195000	0.70347	0.533000	0.62120	CTC		0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		C	155837927	T	C	155837927	3	2	57	1	0	0	0	0	1	0	0	0	15464	1551	54	2	212	2	SYT11	1	155837927	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	41354251	155837927	93412694	4	5603											
BCAN	63827	hgsc.bcm.edu	37	chr1	156616757	156616758	+	In_Frame_Ins	INS	-	-	GGGAGG																															gactttcctgtcccggggccINSgggaggcagaggtgctggtg																								rs376527030		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:156616757_156616758insGGGAGG	ENST00000329117.5	+	3	592_593	c.256_257insGGGAGG	c.(256-258)cgg>cGGGAGGgg	p.86_87insEG	BCAN_ENST00000361588.5_In_Frame_Ins_p.86_87insEG|RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	86	Ig-like V-type.				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)					GTCCCGGGGCCGGGAGGCAGAG	0.708																																						.											0																																										SO:0001652	inframe_insertion	63827			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.257_262dupGGGAGG	1.37:g.156616758_156616763dupGGGAGG	ENSP00000331210:p.Arg86_Glu87insGluGly		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	In_Frame_Ins	INS	ENST00000329117.5	37	CCDS1149.1																																																																																				0.708	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		GGGAGG	156616758	-	GGGAGG	156616757	7	5	57	1	0	1	1	0	0	0	0	0	1345	643	23	0	262	0	BCAN	1	156616757	In_Frame_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	778830	156616757	92633864	5	5604											
METTL13	51603	ucsc.edu	37	chr1	171753605	171753605	+	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	gtggacagccccactgtgaaAccatcgcgggacaatcattt	11	8	10	12	2	1	1	1	1	0	0	2	3	1	3	3	2	2	0	3	2	2	1			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:171753605A>G	ENST00000361735.3	+	2	1145	c.879A>G	c.(877-879)aaA>aaG	p.K293K	METTL13_ENST00000458517.1_Silent_p.K292K|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Silent_p.K207K	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	293							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCACTGTGAAACCATCGCGGG	0.617																																						.											0													14	15	15					1																	171753605		2191	4267	6458	SO:0001819	synonymous_variant	51603			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.879A>G	1.37:g.171753605A>G			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	CCDS1299.1																																																																																				0.617	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		G	171753605	A	G	171753605	2	3	57	1	0	0	0	0	0	0	0	1	9497	40	2	2		2	METTL13	1	171753605	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10	15136848	171753605	77497016	6	5605											
ATP2B4	493	broad.mit.edu	37	chr1	203693038	203693039	+	Frame_Shift_Ins	INS	-	-	T																															tggaatttgggggtaaacccINSttcagttgtacaagcctcag																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:203693038_203693039insT	ENST00000357681.5	+	19	4177_4178	c.3054_3055insT	c.(3055-3057)ttcfs	p.F1019fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.F1007fs|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.F1019fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.F1019fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1019					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)			GGGGTAAACCCTTCAGTTGTAC	0.545																																						.											0																																										SO:0001589	frameshift_variant	493			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.3056dupT	1.37:g.203693040_203693040dupT	ENSP00000350310:p.Phe1019fs		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	CCDS1440.1																																																																																				0.545	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		T	203693039	-	T	203693038	7	5	57	1	0	1	1	0	0	0	0	0	1142	668	24	0	3124	0	ATP2B4	1	203693038	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	31939433	203693038	45557583	7	5606											
EIF5B	9669	bcgsc.ca	37	chr2	99995848	99995848	+	Missense_Mutation	SNP	T	T	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	acaaattggggccaccaatgTtcctcttgaagctattaatg	12	12	8	9	0	1	1	0	1	1	0	2	1	2	1	3	2	1	2	3	2	5	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:99995848T>C	ENST00000289371.6	+	12	2220	c.2018T>C	c.(2017-2019)gTt>gCt	p.V673A		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	673	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				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						GCCACCAATGTTCCTCTTGAA	0.343																																					Colon(162;2388 2567 2705 3444)	.											0													104	94	97					2																	99995848		1868	4103	5971	SO:0001583	missense	9669			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.2018T>C	2.37:g.99995848T>C	ENSP00000289371:p.Val673Ala		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942866	0.92526	.	.	ENSG00000158417	ENST00000289371	T	0.76839	-1.05	5.78	5.78	0.91487	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	.	.	.	.	D	0.89125	0.6626	M	0.86651	2.83	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.90314	0.4339	8	.	.	.	-24.6168	16.1127	0.81273	0.0:0.0:0.0:1.0	.	673	O60841	IF2P_HUMAN	A	673	ENSP00000289371:V673A	.	V	+	2	0	EIF5B	99362280	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.717000	0.84732	2.212000	0.71576	0.260000	0.18958	GTT		0.343	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		C	99995848	T	C	99995848	3	2	57	1	0	0	0	0	1	0	0	0	5044	1725	60	2	2064	2	EIF5B	2	99995848	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10		99995848	143203525	8	5607											
C2orf49	79074	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	105956200	105956200	+	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	acatgagattaaaaatgagaCtaaaaggtactttttggtgg	16	12	10	3	0	0	2	0	2	0	2	0	4	0	2	0	3	1	1	0	3	6	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:105956200C>A	ENST00000258457.2	+	2	489	c.260C>A	c.(259-261)aCt>aAt	p.T87N	C2orf49_ENST00000410049.1_Missense_Mutation_p.T87N|RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000437250.2_Missense_Mutation_p.T125N			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	87					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AAAAATGAGACTAAAAGGTAC	0.308																																						.											0													63	66	65					2																	105956200		2203	4300	6503	SO:0001583	missense	79074			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"ashwin"					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.260C>A	2.37:g.105956200C>A	ENSP00000258457:p.Thr87Asn		B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173471	0.21704	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.47177	0.85;0.85;0.85	5.57	2.6	0.31112	.	0.638126	0.16883	N	0.195629	T	0.24812	0.0602	N	0.22421	0.69	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.07751	-1.0756	10	0.16896	T	0.51	-2.0156	1.54	0.02553	0.2836:0.4246:0.1153:0.1765	.	125;87	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	N	87;125;87	ENSP00000258457:T87N;ENSP00000400208:T125N;ENSP00000386361:T87N	ENSP00000258457:T87N	T	+	2	0	C2orf49	105322632	0.001000	0.12720	0.948000	0.38648	0.996000	0.88848	0.345000	0.19979	1.366000	0.46076	0.585000	0.79938	ACT		0.308	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093		A	105956200	C	A	105956200	3	1	57	1	0	0	0	0	1	0	0	0	2171	565	20	5	266	5	C2orf49	2	105956200	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	5960352	105956200	137243173	9	5608											
NDUFS1	4719	broad.mit.edu	37	chr2	206988916	206988916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctagtagaagcttcagcatAtggatggttcctctactgcc	9	12	9	11	0	2	1	1	0	1	1	3	2	3	2	3	2	4	4	3	2	5	6			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:206988916A>G	ENST00000233190.6	-	19	2443	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	NDUFS1_ENST00000440274.1_Missense_Mutation_p.I690T|AC007383.4_ENST00000453039.1_RNA|NDUFS1_ENST00000423725.1_Missense_Mutation_p.I669T|NDUFS1_ENST00000455934.2_Missense_Mutation_p.I740T|NDUFS1_ENST00000457011.1_Missense_Mutation_p.I610T|NDUFS1_ENST00000432169.1_Missense_Mutation_p.I615T|NDUFS1_ENST00000449699.1_Missense_Mutation_p.I726T	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	726					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						GCTTCAGCATATGGATGGTTC	0.408																																						.											0													116	97	104					2																	206988916		2203	4300	6503	SO:0001583	missense	4719				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.2177T>C	2.37:g.206988916A>G	ENSP00000233190:p.Ile726Thr		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608040	0.46527	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.88431	-2.35;-2.33;-2.23;-2.24;-2.38;-2.35;-2.23	5.26	5.26	0.73747	.	0.137318	0.64402	D	0.000007	D	0.83510	0.5270	L	0.36672	1.1	0.47407	D	0.99941	B;B;B;B	0.25955	0.138;0.049;0.025;0.007	B;B;B;B	0.19666	0.022;0.026;0.013;0.013	T	0.81996	-0.0676	10	0.72032	D	0.01	-10.7223	12.3475	0.55130	0.8595:0.1405:0.0:0.0	.	615;690;740;726	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	T	726;669;610;690;740;726;615	ENSP00000233190:I726T;ENSP00000397760:I669T;ENSP00000400976:I610T;ENSP00000409766:I690T;ENSP00000392709:I740T;ENSP00000399912:I726T;ENSP00000409689:I615T	ENSP00000233190:I726T	I	-	2	0	NDUFS1	206697161	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.774000	0.68906	1.988000	0.58038	0.460000	0.39030	ATA		0.408	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		G	206988916	A	G	206988916	3	3	57	1	0	0	0	0	1	0	0	0	10291	449	16	4	10	4	NDUFS1	2	206988916	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	101032716	206988916	36210457	10	5609											
KIF1A	547	ucsc.edu	37	chr2	241697840	241697840	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgccggtcaccacgttgTcacagtcctcgatgacactg	7	9	9	16	4	2	1	2	1	0	0	5	2	4	1	4	1	0	1	4	1	0	1			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:241697840T>C	ENST00000320389.7	-	25	2650	c.2492A>G	c.(2491-2493)gAc>gGc	p.D831G	KIF1A_ENST00000498729.2_Missense_Mutation_p.D840G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	831					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCACGTTGTCACAGTCCTC	0.642																																						.											0													63	73	70					2																	241697840		2166	4261	6427	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2492A>G	2.37:g.241697840T>C	ENSP00000322791:p.Asp831Gly		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166941	0.78339	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.78707	-1.2;-1.2;-1.2	5.28	5.28	0.74379	.	0.060427	0.64402	U	0.000005	T	0.71400	0.3335	L	0.36672	1.1	0.80722	D	1	B;P;B	0.40875	0.125;0.731;0.033	B;B;B	0.41946	0.173;0.371;0.077	T	0.70026	-0.4985	10	0.28530	T	0.3	.	14.8408	0.70223	0.0:0.0:0.0:1.0	.	840;840;831	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	G	831;840;840;840	ENSP00000322791:D831G;ENSP00000438388:D840G;ENSP00000384231:D840G	ENSP00000322791:D831G	D	-	2	0	KIF1A	241346513	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.043000	0.71004	1.999000	0.58509	0.482000	0.46254	GAC		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		C	241697840	T	C	241697840	3	2	57	1	0	0	0	0	1	0	0	0	8283	1667	58	2	2672	2	KIF1A	2	241697840	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	34708924	241697840	1501533	11	5610											
VILL	50853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	38040486	38040486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtcggccgcgttcaagcaGctcttccggacttggtctga	6	10	13	12	4	3	1	1	1	2	0	5	3	4	2	2	3	2	3	2	3	1	3			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:38040486G>T	ENST00000283713.6	+	10	1292	c.1026G>T	c.(1024-1026)caG>caT	p.Q342H	VILL_ENST00000465644.1_Missense_Mutation_p.Q60H|VILL_ENST00000383759.2_Missense_Mutation_p.Q342H			O15195	VILL_HUMAN	villin-like	342					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)		CGTTCAAGCAGCTCTTCCGGA	0.706																																						.											0													21	21	21					3																	38040486		2197	4293	6490	SO:0001583	missense	50853				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.1026G>T	3.37:g.38040486G>T	ENSP00000283713:p.Gln342His		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756925	0.49362	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.31769	1.48;1.48;1.48	3.97	2.07	0.26955	.	0.331612	0.34133	N	0.004226	T	0.45256	0.1333	M	0.82716	2.605	0.32969	D	0.522115	D;P	0.52996	0.957;0.937	P;P	0.55667	0.781;0.533	T	0.56950	-0.7894	10	0.59425	D	0.04	-9.0365	5.5574	0.17123	0.1793:0.0:0.6603:0.1604	.	328;342	O15195-2;O15195	.;VILL_HUMAN	H	342;342;328;60	ENSP00000283713:Q342H;ENSP00000373266:Q342H;ENSP00000422096:Q60H	ENSP00000283713:Q342H	Q	+	3	2	VILL	38015490	1.000000	0.71417	0.997000	0.53966	0.292000	0.27327	0.696000	0.25541	0.407000	0.25591	-0.350000	0.07774	CAG		0.706	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		T	38040486	G	T	38040486	3	4	57	1	0	0	0	0	1	0	0	0	17162	962	34	5	1060	5	VILL	3	38040486	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		38040486	159981944	12	5611											
MYRIP	25924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	40211564	40211564	+	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	cagcatcccctggaggctacCgtgctcccgctgccctctgg	4	8	11	18	2	1	0	0	0	1	0	3	1	3	1	5	3	4	4	5	3	1	1	rs142520074		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:40211564C>T	ENST00000302541.6	+	8	1195	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	MYRIP_ENST00000444716.1_Missense_Mutation_p.R285C|MYRIP_ENST00000425621.1_Missense_Mutation_p.R285C|MYRIP_ENST00000396217.3_Missense_Mutation_p.R196C|MYRIP_ENST00000539167.1_Missense_Mutation_p.R98C|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	285	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGGAGGCTACCGTGCTCCCGC	0.587																																						.											0								C	CYS/ARG	0,4406		0,0,2203	82	73	76		853	2.7	0	3	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYRIP	NM_015460.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	285/860	40211564	1,13005	2203	4300	6503	SO:0001583	missense	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.853C>T	3.37:g.40211564C>T	ENSP00000301972:p.Arg285Cys		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416632	0.42918	0.0	1.16E-4	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.56	2.65	0.31530	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	2.435180	0.01566	N	0.020350	T	0.38612	0.1047	N	0.24115	0.695	0.09310	N	1	D;P;P	0.71674	0.998;0.876;0.938	P;B;P	0.57244	0.816;0.311;0.448	T	0.33854	-0.9852	9	.	.	.	.	9.6442	0.39857	0.3937:0.6063:0.0:0.0	.	196;285;285	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	C	285;285;285;196;98	ENSP00000398665:R285C;ENSP00000301972:R285C;ENSP00000389323:R285C;ENSP00000379519:R196C;ENSP00000438297:R98C	.	R	+	1	0	MYRIP	40186568	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.057000	0.14279	0.407000	0.25591	-0.314000	0.08810	CGT		0.587	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		T	40211564	C	T	40211564	3	4	57	1	0	0	0	0	1	0	0	0	10100	652	23	1	879	1	MYRIP	3	40211564	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	2171078	40211564	157810866	13	5612											
ASTE1	28990	mdanderson.org;bcgsc.ca	37	chr3	130743262	130743262	+	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	ctgggactgttggtattcttCcatggaacagcagagaagtt	10	12	12	7	0	1	1	0	0	1	1	2	4	2	3	1	3	2	4	1	3	3	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:130743262C>T	ENST00000264992.3	-	3	1330	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	NEK11_ENST00000356918.4_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.E297K|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510769.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	297					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TGGTATTCTTCCATGGAACAG	0.428																																						.											0													143	139	140					3																	130743262		2203	4300	6503	SO:0001583	missense	28990			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.889G>A	3.37:g.130743262C>T	ENSP00000264992:p.Glu297Lys		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.02|15.02	2.709772|2.709772	0.48517|0.48517	.|.	.|.	ENSG00000034533|ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270|ENST00000505290	.|.	.|.	.|.	5.64|5.64	3.82|3.82	0.43975|0.43975	.|.	0.242923|.	0.48286|.	N|.	0.000197|.	T|.	0.60170|.	0.2248|.	L|L	0.53249|0.53249	1.67|1.67	0.40900|0.40900	D|D	0.984147|0.984147	P;B|.	0.37061|.	0.58;0.426|.	B;B|.	0.37550|.	0.253;0.187|.	T|.	0.57142|.	-0.7862|.	9|.	0.22109|.	T|.	0.4|.	-7.5697|-7.5697	10.9797|10.9797	0.47486|0.47486	0.0:0.7994:0.1301:0.0705|0.0:0.7994:0.1301:0.0705	.|.	297;297|.	D6RG30;Q2TB18|.	.;ASTE1_HUMAN|.	K|X	297|11	.|.	ENSP00000264992:E297K|.	E|W	-|-	1|3	0|0	ASTE1|ASTE1	132225952|132225952	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.964000|0.964000	0.63967|0.63967	1.683000|1.683000	0.37638|0.37638	0.718000|0.718000	0.32166|0.32166	-0.258000|-0.258000	0.10820|0.10820	GAA|TGG		0.428	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		T	130743262	C	T	130743262	3	4	57	1	0	0	0	0	1	0	0	0	1062	864	30	3	1166	3	ASTE1	3	130743262	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	90531698	130743262	67279168	14	5613											
CCNL1	57018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	156866283	156866283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaggtgaggagaaccaTgattatgatgtcttcgaggg	11	11	13	6	1	1	4	0	3	1	1	2	6	1	4	2	3	1	0	2	3	3	3			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:156866283T>C	ENST00000295926.3	-	11	1446	c.1328A>G	c.(1327-1329)cAt>cGt	p.H443R	CCNL1_ENST00000461804.1_Intron|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	443					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)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGGAGAACCATGATTATGATG	0.433																																						.											0													191	192	192					3																	156866283		2203	4300	6503	SO:0001583	missense	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1328A>G	3.37:g.156866283T>C	ENSP00000295926:p.His443Arg		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260717	0.39995	.	.	ENSG00000163660	ENST00000295926	T	0.17854	2.25	5.0	5.0	0.66597	.	0.048329	0.85682	D	0.000000	T	0.13243	0.0321	N	0.21373	0.66	0.80722	D	1	P	0.37466	0.596	B	0.37888	0.26	T	0.13980	-1.0489	10	0.23891	T	0.37	-14.4614	15.0209	0.71630	0.0:0.0:0.0:1.0	.	443	Q9UK58	CCNL1_HUMAN	R	443	ENSP00000295926:H443R	ENSP00000295926:H443R	H	-	2	0	CCNL1	158348977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.079000	0.64431	1.993000	0.58246	0.455000	0.32223	CAT		0.433	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		C	156866283	T	C	156866283	3	2	57	1	0	0	0	0	1	0	0	0	2931	1464	51	4	256	4	CCNL1	3	156866283	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	26123021	156866283	41156147	15	5614											
DCUN1D4	23142	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr4	52779712	52779712	+	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	cagggccagttttgttggacGagtttgtggagtggtataaa	9	13	15	4	1	0	0	0	0	0	0	0	3	0	2	1	4	0	4	1	4	3	6			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr4:52779712G>A	ENST00000334635.5	+	11	1021	c.841G>A	c.(841-843)Gag>Aag	p.E281K	DCUN1D4_ENST00000381441.3_Missense_Mutation_p.E246K|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.E221K|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.E325K	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	281	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)			TTTGTTGGACGAGTTTGTGGA	0.373																																						.											0													101	99	100					4																	52779712		2203	4300	6503	SO:0001583	missense	23142			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.841G>A	4.37:g.52779712G>A	ENSP00000334625:p.Glu281Lys		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992205	0.93167	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000451288;ENST00000510808	.	.	.	6.02	6.02	0.97574	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.99;0.995;0.993	D	0.89852	0.4010	9	0.72032	D	0.01	-18.733	19.5352	0.95251	0.0:0.0:1.0:0.0	.	325;246;281	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	K	281;246;221;325;91	.	ENSP00000334625:E281K	E	+	1	0	DCUN1D4	52474469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.850000	0.98022	0.650000	0.86243	GAG		0.373	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		A	52779712	G	A	52779712	3	1	57	1	0	0	0	0	1	0	0	0	4316	1059	37	1	883	1	DCUN1D4	4	52779712	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		52779712	138374564	16	5615											
DNAH5	1767	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	13708238	13708238	+	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	aggcttatacgtacttttttCcaccaagcagggattctagc	10	13	8	10	1	1	0	0	0	1	0	2	1	2	1	2	2	4	3	2	2	5	8			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:13708238C>T	ENST00000265104.4	-	76	13436	c.13332G>A	c.(13330-13332)tgG>tgA	p.W4444*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4444					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)					GTACTTTTTTCCACCAAGCAG	0.403									Kartagener syndrome																													.											0													175	162	166					5																	13708238		2203	4300	6503	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	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.13332G>A	5.37:g.13708238C>T	ENSP00000265104:p.Trp4444*		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	55	24.226362	0.99959	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8429	0.92192	0.0:1.0:0.0:0.0	.	.	.	.	X	4444	.	ENSP00000265104:W4444X	W	-	3	0	DNAH5	13761238	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.642000	0.83385	2.521000	0.84997	0.655000	0.94253	TGG		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13708238	C	T	13708238	4	4	57	1	0	0	0	0	0	1	0	0	4604	856	30	3	558	3	DNAH5	5	13708238	Nonsense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		13708238	167207022	17	5616											
THBS4	7060	broad.mit.edu	37	chr5	79331430	79331431	+	Frame_Shift_Ins	INS	-	-	C																															gcggtggctagcggcaggcgINScccaggccaccccccagggt																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:79331430_79331431insC	ENST00000350881.2	+	1	260_261	c.70_71insC	c.(70-72)gccfs	p.A24fs	THBS4_ENST00000511733.1_5'Flank	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	24					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGCGGCAGGCGCCCAGGCCACC	0.738																																						.											0																																										SO:0001589	frameshift_variant	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.73dupC	5.37:g.79331433_79331433dupC	ENSP00000339730:p.Ala24fs		B2R909|Q86TG2	Frame_Shift_Ins	INS	ENST00000350881.2	37	CCDS4049.1																																																																																				0.738	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			C	79331431	-	C	79331430	7	5	57	1	0	1	1	0	0	0	0	0	15853	1087	38	0	72	0	THBS4	5	79331430	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	65623192	79331430	101583830	18	5617											
PCDHA8	56140	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr5	140222358	140222358	+	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	tctgcgcgagacgcggacgcGcaggagaacgcgctggtgtc	7	5	17	12	8	1	2	0	0	1	2	2	5	1	3	0	3	2	2	0	3	1	0			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:140222358G>A	ENST00000531613.1	+	1	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A484A|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.657																																						.											0													49	55	53					5																	140222358		2195	4261	6456	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1452G>A	5.37:g.140222358G>A			B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																				0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140222358	G	A	140222358	2	1	57	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222358	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10	60890928	140222358	40692902	19	5618											
RANBP9	10048	broad.mit.edu	37	chr6	13638047	13638047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaattacttacctggtgaAgttattaacttgctgtgatc	11	16	8	6	0	0	3	0	3	0	0	1	3	0	3	1	1	4	2	1	1	6	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:13638047A>G	ENST00000011619.3	-	10	1724	c.1666T>C	c.(1666-1668)Ttc>Ctc	p.F556L	RANBP9_ENST00000539980.1_Missense_Mutation_p.F327L	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	556					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TACCTGGTGAAGTTATTAACT	0.313																																						.											0													192	187	188					6																	13638047		2202	4300	6502	SO:0001583	missense	10048			AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1666T>C	6.37:g.13638047A>G	ENSP00000011619:p.Phe556Leu		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013244	0.35511	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.76448	-1.02	5.96	5.96	0.96718	.	0.306271	0.39909	N	0.001223	T	0.58595	0.2133	L	0.33485	1.01	0.46222	D	0.99893	B	0.31125	0.309	B	0.37550	0.253	T	0.60490	-0.7253	10	0.11794	T	0.64	-11.6893	16.4221	0.83766	1.0:0.0:0.0:0.0	.	556	Q96S59	RANB9_HUMAN	L	556;327	ENSP00000011619:F556L	ENSP00000011619:F556L	F	-	1	0	RANBP9	13746026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.283000	0.76528	0.477000	0.44152	TTC		0.313	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			G	13638047	A	G	13638047	3	3	57	1	0	0	0	0	1	0	0	0	13032	72	3	2	543	2	RANBP9	6	13638047	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10		13638047	157477020	20	5619											
HLA-C	3107	mdanderson.org	37	chr6	31238866	31238866	+	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	gtacctgcgcgctgcagcgtCtccttcccgttctccaggta	4	11	10	16	4	2	0	0	0	2	0	5	0	3	0	4	1	4	5	4	1	2	4	rs17413678	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:31238866C>G	ENST00000376228.5	-	3	617	c.603G>C	c.(601-603)gaG>gaC	p.E201D	HLA-C_ENST00000383329.3_Missense_Mutation_p.E201D	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	201	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)			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						GCTGCAGCGTCTCCTTCCCGT	0.657																																						.											0													53	45	48					6																	31238866		2203	4299	6502	SO:0001583	missense	3107			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.603G>C	6.37:g.31238866C>G	ENSP00000365402:p.Glu201Asp		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.944|8.944	0.966650|0.966650	0.18659|0.18659	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00824	.|5.65;5.65	2.55|2.55	0.453|0.453	0.16639|0.16639	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.613380	.|0.04968	.|N	.|0.463348	T|T	0.00109|0.00109	0.0003|0.0003	N|N	0.00058|0.00058	-2.35|-2.35	0.22226|0.22226	N|N	0.999278|0.999278	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.001;0.002;0.001	T|T	0.48163|0.48163	-0.9059|-0.9059	5|10	.|0.72032	.|D	.|0.01	.|.	10.0479|10.0479	0.42197|0.42197	0.0:0.3625:0.6374:0.0|0.0:0.3625:0.6374:0.0	rs41549320|rs41549320	.|201;201;201;201	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	H|D	201|201;201;201;238	.|ENSP00000365402:E201D;ENSP00000372819:E201D	.|ENSP00000365402:E201D	D|E	-|-	1|3	0|2	HLA-C|HLA-C	31346845|31346845	0.000000|0.000000	0.05858|0.05858	0.895000|0.895000	0.35142|0.35142	0.078000|0.078000	0.17371|0.17371	-3.936000|-3.936000	0.00330|0.00330	0.101000|0.101000	0.17610|0.17610	0.305000|0.305000	0.20034|0.20034	GAC|GAG		0.657	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31238866	C	G	31238866	3	3	57	1	0	0	0	0	1	0	0	0	7197	912	32	5	521	5	HLA-C	6	31238866	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	17600819	31238866	139876201	21	5620											
COL12A1	1303	broad.mit.edu;mdanderson.org	37	chr6	75843574	75843574	+	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	ttactacaagaaataattacCagttcctctggaccacctgc	13	11	5	12	0	1	1	0	0	1	1	2	2	2	2	4	1	4	1	4	1	6	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:75843574C>A	ENST00000322507.8	-	33	5973	c.5664G>T	c.(5662-5664)ctG>ctT	p.L1888L	COL12A1_ENST00000345356.6_Splice_Site_p.L724L|COL12A1_ENST00000416123.2_Splice_Site_p.L1888L|COL12A1_ENST00000483888.2_Splice_Site_p.L1888L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1888	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATAATTACCAGTTCCTCTG	0.433																																						.											0													85	82	83					6																	75843574		1872	4110	5982	SO:0001630	splice_region_variant	1303			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.5664+1G>T	6.37:g.75843574C>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545989	0.45383	.	.	ENSG00000111799	ENST00000419671	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	T	0.71970	0.3403	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68762	-0.5323	4	.	.	.	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	.	.	.	C	623	.	.	G	-	1	0	COL12A1	75900294	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.629000	0.61290	2.778000	0.95560	0.655000	0.94253	GGT		0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Silent	A	75843574	C	A	75843574	5	1	57	1	0	0	0	0	0	0	1	0	3669	608	21	5	3663	5	COL12A1	6	75843574	Splice_Site	SNP	C	TCGA-KO-8407-01A-11D-2310-10	44604708	75843574	95271493	22	5621											
SYTL3	94120	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	159173001	159173001	+	Missense_Mutation	SNP	G	G	A																															gcccgacagatcctcccaggGaaagcgcaagactggagtcc																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:159173001G>A	ENST00000297239.9	+	12	1270	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	SYTL3_ENST00000360448.3_Missense_Mutation_p.G291E|SYTL3_ENST00000367081.3_Missense_Mutation_p.G85E			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	359	C2 1. {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)		TCCTCCCAGGGAAAGCGCAAG	0.552																																						.											0													80	68	72					6																	159173001		2203	4300	6503	SO:0001583	missense	94120			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.1076G>A	6.37:g.159173001G>A	ENSP00000297239:p.Gly359Glu		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487983	0.64074	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.68331	-0.32;-0.32;-0.32	5.75	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261183	0.37012	N	0.002293	T	0.71728	0.3374	L	0.55481	1.735	0.21841	N	0.999516	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.993;0.997;0.994	T	0.65429	-0.6170	10	0.87932	D	0	.	15.2148	0.73258	0.0:0.2629:0.7371:0.0	.	85;359;291	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	E	291;359;359;85	ENSP00000353631:G291E;ENSP00000297239:G359E;ENSP00000356048:G85E	ENSP00000297239:G359E	G	+	2	0	SYTL3	159092989	1.000000	0.71417	0.170000	0.22879	0.398000	0.30690	4.854000	0.62918	2.716000	0.92895	0.655000	0.94253	GGA		0.552	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			A	159173001	G	A	159173001	3	1	57	1	0	0	0	0	1	0	0	0	15481	1174	41	3	902	3	SYTL3	6	159173001	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	83329427	159173001	11942066	23	5622	146	2									
SYTL3	94120	hgsc.bcm.edu;ucsc.edu	37	chr6	159173011	159173011	+	Silent	SNP	G	G	A																															tcctcccagggaaagcgcaaGactggagtccaaaggaacac																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:159173011G>A	ENST00000297239.9	+	12	1280	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	SYTL3_ENST00000360448.3_Silent_p.K294K|SYTL3_ENST00000367081.3_Silent_p.K88K			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	362	C2 1. {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)		GAAAGCGCAAGACTGGAGTCC	0.572																																						.											0													81	68	72					6																	159173011		2203	4300	6503	SO:0001819	synonymous_variant	94120			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.1086G>A	6.37:g.159173011G>A			Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	CCDS56458.1																																																																																				0.572	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			A	159173011	G	A	159173011	2	1	57	1	0	0	0	0	0	0	0	1	15481	933	33	4		4	SYTL3	6	159173011	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10	10	159173011	11942056	24	5623	146	2									
ISPD	729920	broad.mit.edu	37	chr7	16341081	16341081	+	Missense_Mutation	SNP	T	T	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	cagccgcatagagatctcgtTtgtaggtcacctaaaggaca	12	9	10	10	2	2	1	1	0	1	1	3	3	2	2	2	2	1	3	2	2	4	4			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:16341081T>C	ENST00000407010.2	-	5	799	c.800A>G	c.(799-801)aAa>aGa	p.K267R	ISPD_ENST00000399310.3_Missense_Mutation_p.K217R|ISPD_ENST00000479493.1_5'UTR	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	267					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAGATCTCGTTTGTAGGTCAC	0.388										Multiple Myeloma(15;0.18)																												.											0													88	80	82					7																	16341081		1856	4101	5957	SO:0001583	missense	729920			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.800A>G	7.37:g.16341081T>C	ENSP00000385478:p.Lys267Arg		A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37		.	.	.	.	.	.	.	.	.	.	T	13.82	2.350427	0.41599	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.85484	-1.99;-1.99	5.15	3.97	0.46021	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.199344	0.40554	U	0.001079	T	0.72078	0.3416	N	0.12471	0.22	0.40186	D	0.977343	B	0.24618	0.107	B	0.32762	0.152	T	0.66044	-0.6021	10	0.12766	T	0.61	0.0762	11.4619	0.50215	0.0:0.0746:0.0:0.9254	.	267	A4D126	ISPD_HUMAN	R	267;217	ENSP00000385478:K267R;ENSP00000382249:K217R	ENSP00000382249:K217R	K	-	2	0	ISPD	16307606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.956000	0.49129	2.064000	0.61679	0.533000	0.62120	AAA		0.388	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		C	16341081	T	C	16341081	3	2	57	1	0	0	0	0	1	0	0	0	7864	1841	64	4	579	4	ISPD	7	16341081	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10		16341081	142797582	25	5624											
PEX1	5189	bcgsc.ca	37	chr7	92116845	92116845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctctttggattttgaaAgctttcatatctgaaaaaag	12	16	6	7	0	4	2	1	2	3	0	5	3	4	3	1	1	1	1	1	1	5	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:92116845A>G	ENST00000248633.4	-	24	3873	c.3778T>C	c.(3778-3780)Ttt>Ctt	p.F1260L	AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.F938L|PEX1_ENST00000428214.1_Missense_Mutation_p.F1203L|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1260					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)			GGATTTTGAAAGCTTTCATAT	0.269																																						.											0													64	68	66					7																	92116845		2201	4287	6488	SO:0001583	missense	5189			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.3778T>C	7.37:g.92116845A>G	ENSP00000248633:p.Phe1260Leu		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770896	0.90108	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.98120	-4.38;-4.73;-4.32	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.83275	0.996;0.985;0.985	D	0.99198	1.0872	10	0.87932	D	0	-21.3596	13.566	0.61819	1.0:0.0:0.0:0.0	.	938;1052;1260	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	L	938;1260;1203	ENSP00000410438:F938L;ENSP00000248633:F1260L;ENSP00000394413:F1203L	ENSP00000248633:F1260L	F	-	1	0	PEX1	91954781	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.853000	0.75435	2.216000	0.71823	0.528000	0.53228	TTT		0.269	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		G	92116845	A	G	92116845	3	3	57	1	0	0	0	0	1	0	0	0	11735	72	3	2	77	2	PEX1	7	92116845	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	75775764	92116845	67021818	26	5625											
ZAN	7455	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr7	100390083	100390083	+	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	aagagagcaagaggagctgcGttgccaggtcctcagtgggt	10	7	16	8	1	1	2	1	0	0	2	2	4	2	3	2	3	4	3	2	3	2	1	rs376796357		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:100390083G>A	ENST00000348028.3	+	0	7933				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_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)				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)			GAGGAGCTGCGTTGCCAGGTC	0.667																																						.											0								G	HIS/ARG,HIS/ARG	1,4205		0,1,2102	43	45	44		7768,7768	3.4	1	7		44	0,8440		0,0,4220	no	missense,missense	ZAN	NM_003386.1,NM_173059.1	29,29	0,1,6322	AA,AG,GG		0.0,0.0238,0.0079	probably-damaging,probably-damaging	2590/2813,2590/2722	100390083	1,12645	2103	4220	6323			7455			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.100390083G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.156|8.156	0.788519|0.788519	0.16258|0.16258	2.38E-4|2.38E-4	0.0|0.0	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.76968|0.24350	-1.06;-1.06;-1.06|1.86	3.39|3.39	3.39|3.39	0.38822|0.38822	Uncharacterised domain, cysteine-rich (2);|.	0.253625|.	0.20874|.	N|.	0.084101|.	T|T	0.13200|0.13200	0.0320|0.0320	N|N	0.08118|0.08118	0|0	0.20873|0.20873	N|N	0.999835|0.999835	D;D|B	0.89917|0.30482	1.0;1.0|0.281	D;D|B	0.81914|0.21917	0.992;0.995|0.037	T|T	0.12319|0.12319	-1.0552|-1.0552	10|9	0.62326|0.87932	D|D	0.03|0	.|.	10.585|10.585	0.45278|0.45278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2589;2590|1006	F5H0T8;Q9Y493|F5GX59	.;ZAN_HUMAN|.	H|I	2589|1006	ENSP00000445943:R2589H;ENSP00000445091:R2589H;ENSP00000444427:R2589H|ENSP00000441117:V1006I	ENSP00000445091:R2589H|ENSP00000423579:V2590I	R|V	+|+	2|1	0|0	ZAN|ZAN	100228019|100228019	0.670000|0.670000	0.27512|0.27512	0.971000|0.971000	0.41717|0.41717	0.431000|0.431000	0.31685|0.31685	2.708000|2.708000	0.47152|0.47152	2.206000|2.206000	0.71126|0.71126	0.561000|0.561000	0.74099|0.74099	CGT|GTT		0.667	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100390083	G	A	100390083	1	1	57	0	1	0	0	0	0	0	0	0	17510	1145	40	1		1	ZAN	7	100390083	RNA	SNP	G	TCGA-KO-8407-01A-11D-2310-10	8273238	100390083	58748580	27	5626											
SPAM1	6677	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	123594255	123594255	+	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	taaaattgggaaaattacttCggccaaatcacttgtggggt	13	12	10	6	1	1	0	1	0	0	0	2	1	1	1	1	4	1	0	1	4	6	5	rs377689190		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:123594255C>T	ENST00000439500.1	+	4	1244	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	SPAM1_ENST00000402183.2_Missense_Mutation_p.R211W|SPAM1_ENST00000223028.7_Missense_Mutation_p.R211W|SPAM1_ENST00000460182.1_Missense_Mutation_p.R211W|SPAM1_ENST00000340011.5_Missense_Mutation_p.R211W	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	211					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.R211W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAATTACTTCGGCCAAATCA	0.378																																						.											2	Substitution - Missense(2)	lung(2)						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	77	83	81		631,631,631,631,631	-1	0	7		81	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	101,101,101,101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	211/510,211/510,211/510,211/512,211/510	123594255	1,13003	2203	4299	6502	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.631C>T	7.37:g.123594255C>T	ENSP00000402123:p.Arg211Trp		Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605065	0.66445	0.0	1.16E-4	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	6.17	-0.96	0.10340	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.204215	0.42548	D	0.000688	T	0.74861	0.3772	H	0.96547	3.84	0.21290	N	0.999731	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77038	-0.2736	9	.	.	.	-26.04	20.5191	0.99215	0.8136:0.1864:0.0:0.0	.	211;211	Q8TC30;P38567	.;HYALP_HUMAN	W	211	ENSP00000386028:R211W;ENSP00000417934:R211W;ENSP00000345849:R211W;ENSP00000402123:R211W;ENSP00000223028:R211W	.	R	+	1	2	SPAM1	123381491	0.007000	0.16637	0.022000	0.16811	0.934000	0.57294	0.147000	0.16202	-0.161000	0.10983	0.655000	0.94253	CGG		0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			T	123594255	C	T	123594255	3	4	57	1	0	0	0	0	1	0	0	0	14986	875	31	1	633	1	SPAM1	7	123594255	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	23204172	123594255	35544408	28	5627											
NCAPG2	54892	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	158485614	158485614	+	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	acacagaagcaagaatcacaGatgtaattgcataaattatt	19	10	6	6	0	1	3	1	0	0	3	1	3	1	3	0	0	2	3	0	0	7	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:158485614G>A	ENST00000409423.1	-	5	474	c.302C>T	c.(301-303)tCt>tTt	p.S101F	NCAPG2_ENST00000449727.2_Missense_Mutation_p.S101F|NCAPG2_ENST00000356309.3_Missense_Mutation_p.S101F|NCAPG2_ENST00000409339.3_Missense_Mutation_p.S101F|NCAPG2_ENST00000479022.1_5'Flank	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	101					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)		AAGAATCACAGATGTAATTGC	0.279																																						.											0													117	113	114					7																	158485614		1813	4066	5879	SO:0001583	missense	54892			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.302C>T	7.37:g.158485614G>A	ENSP00000386569:p.Ser101Phe		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	G	4.849	0.157781	0.09236	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	T;T;T;T	0.32515	1.46;1.46;1.45;1.45	5.41	3.47	0.39725	Armadillo-type fold (1);	0.551643	0.21031	N	0.081352	T	0.22781	0.0550	L	0.44542	1.39	0.25303	N	0.989266	B;B	0.28584	0.216;0.138	B;B	0.26969	0.075;0.012	T	0.14980	-1.0453	10	0.10377	T	0.69	-15.4578	11.8548	0.52431	0.0:0.1316:0.7322:0.1361	.	101;101	Q86XI2-2;Q86XI2	.;CNDG2_HUMAN	F	101	ENSP00000348657:S101F;ENSP00000386569:S101F;ENSP00000387007:S101F;ENSP00000388326:S101F	ENSP00000348657:S101F	S	-	2	0	NCAPG2	158178375	0.998000	0.40836	0.980000	0.43619	0.637000	0.38172	2.751000	0.47508	1.400000	0.46741	0.484000	0.47621	TCT		0.279	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		A	158485614	G	A	158485614	3	1	57	1	0	0	0	0	1	0	0	0	10208	942	33	4	3229	4	NCAPG2	7	158485614	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	34891359	158485614	653049	29	5628											
GGH	8836	mdanderson.org	37	chr8	63951312	63951312	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcacgcacagcaggcAgcccggactggccatggcgc	8	2	14	17	3	0	0	0	0	0	0	0	1	0	1	3	4	3	4	3	4	0	0	rs1800909	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:63951312A>G	ENST00000260118.6	-	1	418	c.16T>C	c.(16-18)Tgc>Cgc	p.C6R		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	6			C -> R (in dbSNP:rs1800909).		glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CACAGCAGGCAGCCCGGACTG	0.716													G|||	1161	0.231829	0.1672	0.2277	5008	,	,		10294	0.2192		0.2793	False		,,,				2504	0.2863					.											0								G	ARG/CYS	752,3574		76,600,1487	10	10	10		16	1.1	0	8	dbSNP_89	10	2198,6302		290,1618,2342	no	missense	GGH	NM_003878.2	180	366,2218,3829	GG,GA,AA		25.8588,17.3833,23.0002	benign	6/319	63951312	2950,9876	2163	4250	6413	SO:0001583	missense	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.16T>C	8.37:g.63951312A>G	ENSP00000260118:p.Cys6Arg			Missense_Mutation	SNP	ENST00000260118.6	37	CCDS6177.1	512	0.23443223443223443	88	0.17886178861788618	83	0.2292817679558011	127	0.22202797202797203	214	0.28232189973614774	G	6.061	0.379536	0.11466	0.173833	0.258588	ENSG00000137563	ENST00000260118	T	0.21191	2.02	4.12	1.06	0.20224	.	1.412970	0.04201	N	0.329979	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42258	-0.9462	9	0.24483	T	0.36	-3.9473	1.5309	0.02535	0.1969:0.1633:0.4721:0.1677	rs1800909	6	Q92820	GGH_HUMAN	R	6	ENSP00000260118:C6R	ENSP00000260118:C6R	C	-	1	0	GGH	64113866	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.797000	0.26999	-0.133000	0.11537	-0.684000	0.03749	TGC		0.716	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			G	63951312	A	G	63951312	3	3	57	1	0	0	0	0	1	0	0	0	6357	188	7	2	976	2	GGH	8	63951312	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10		63951312	82412710	30	5629											
WWP1	11059	broad.mit.edu	37	chr8	87414376	87414376	+	Frame_Shift_Del	DEL	G	G	-																															tccgtctcaggttgctgccaGacccaaaaatacaccagctc																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:87414376delG	ENST00000517970.1	+	8	975	c.668delG	c.(667-669)agafs	p.R223fs	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Intron|WWP1_ENST00000265428.4_Frame_Shift_Del_p.R223fs	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	223					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTTGCTGCCAGACCCAAAAAT	0.443																																						.											0													105	89	94					8																	87414376		2203	4300	6503	SO:0001589	frameshift_variant	11059			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.668delG	8.37:g.87414376delG	ENSP00000427793:p.Arg223fs		O00307|Q5YLC1|Q96BP4	Frame_Shift_Del	DEL	ENST00000517970.1	37	CCDS6242.1																																																																																				0.443	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		-	87414376	G	-	87414376	7	5	57	1	0	1	0	1	0	0	0	0	17412	942	33	0	690	0	WWP1	8	87414376	Frame_Shift_Del	DEL	G	TCGA-KO-8407-01A-11D-2310-10	23463064	87414376	58949646	31	5630											
LRRC6	23639	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	133673863	133673863	+	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	tcagcattccgtctaataagAtcttctgtgactggaagaaa	13	12	8	8	1	4	3	1	1	3	2	5	4	5	4	1	1	1	1	1	1	4	4			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:133673863A>T	ENST00000519595.1	-	2	119	c.21T>A	c.(19-21)gaT>gaA	p.D7E	LRRC6_ENST00000250173.1_Missense_Mutation_p.D7E|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.D7E			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	7					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCTAATAAGATCTTCTGTGA	0.348																																						.											0													60	59	59					8																	133673863		2203	4300	6503	SO:0001583	missense	23639			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.21T>A	8.37:g.133673863A>T	ENSP00000429791:p.Asp7Glu		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37		.	.	.	.	.	.	.	.	.	.	A	11.10	1.539703	0.27563	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.49720	0.77;0.77;0.77	5.91	-2.39	0.06602	.	0.044642	0.85682	D	0.000000	T	0.15998	0.0385	N	0.04043	-0.29	0.42148	D	0.991545	B	0.15719	0.014	B	0.18561	0.022	T	0.04915	-1.0918	10	0.16896	T	0.51	-25.756	2.1324	0.03754	0.5007:0.1192:0.2651:0.1149	.	7	Q86X45	LRRC6_HUMAN	E	7	ENSP00000429791:D7E;ENSP00000428610:D7E;ENSP00000250173:D7E	ENSP00000250173:D7E	D	-	3	2	LRRC6	133743045	0.048000	0.20356	0.995000	0.50966	0.958000	0.62258	-0.513000	0.06305	-0.077000	0.12752	0.533000	0.62120	GAT		0.348	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		T	133673863	A	T	133673863	3	4	57	1	0	0	0	0	1	0	0	0	9016	330	12	5	1423	5	LRRC6	8	133673863	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	46259487	133673863	12690159	32	5631											
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-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	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																																						.											0													110	86	94					8																	141551316		2200	4300	6500	SO:0001583	missense	27161			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		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	57	1	0	0	0	0	1	0	0	0	5006	1203	42	5	618	5	EIF2C2	8	141551316	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	7877453	141551316	4812706	33	5632											
FAM154A	158297	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	18941779	18941779	+	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	catattctcttcactcgggaCgaactggtcatactggtgga	9	12	10	10	2	3	0	2	0	1	0	5	3	3	2	0	4	2	0	0	4	3	4			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr9:18941779C>T	ENST00000380534.4	-	3	556	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	93										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCACTCGGGACGAACTGGTCA	0.502																																						.											0													180	155	164					9																	18941779		2203	4300	6503	SO:0001583	missense	158297			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.277G>A	9.37:g.18941779C>T	ENSP00000369907:p.Val93Ile		Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	c	3.915	-0.019391	0.07634	.	.	ENSG00000155875	ENST00000380534	T	0.16897	2.31	5.83	-7.19	0.01500	.	0.944627	0.08746	N	0.899840	T	0.09423	0.0232	L	0.33245	0.995	0.32505	N	0.538404	B	0.24043	0.096	B	0.21151	0.033	T	0.31696	-0.9934	10	0.37606	T	0.19	-2.363	5.6389	0.17552	0.1061:0.1619:0.1047:0.6273	.	93	Q8IYX7	F154A_HUMAN	I	93	ENSP00000369907:V93I	ENSP00000369907:V93I	V	-	1	0	FAM154A	18931779	0.000000	0.05858	0.004000	0.12327	0.047000	0.14425	-2.446000	0.01010	-0.728000	0.04882	0.550000	0.68814	GTC		0.502	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		T	18941779	C	T	18941779	3	4	57	1	0	0	0	0	1	0	0	0	5463	536	19	1	1155	1	FAM154A	9	18941779	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		18941779	122271652	34	5633											
MAMDC4	158056	mdanderson.org	37	chr9	139752899	139752899	+	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	gtggctggagccacctggccTggcccggcctgggcggatac	4	6	17	14	2	0	0	0	0	0	0	0	2	0	2	5	7	2	1	5	7	1	1	rs2275156	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr9:139752899T>G	ENST00000317446.2	+	22	2772	c.2722T>G	c.(2722-2724)Tgg>Ggg	p.W908G	MAMDC4_ENST00000445819.1_Missense_Mutation_p.W987G|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)		CCACCTGGCCTGGCCCGGCCT	0.692																																						.											0								T	GLY/TRP	3660,734		1569,522,106	27	35	32		2722	1.3	0.2	9	dbSNP_100	32	6268,2320		2351,1566,377	yes	missense	MAMDC4	NM_206920.2	184	3920,2088,483	GG,GT,TT		27.0144,16.7046,23.5249	possibly-damaging	908/1138	139752899	9928,3054	2197	4294	6491	SO:0001583	missense	158056			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.2722T>G	9.37:g.139752899T>G	ENSP00000319388:p.Trp908Gly			Missense_Mutation	SNP	ENST00000317446.2	37	CCDS7010.1	1541|1541	0.7055860805860806|0.7055860805860806	359|359	0.7296747967479674|0.7296747967479674	199|199	0.5497237569060773|0.5497237569060773	471|471	0.8234265734265734|0.8234265734265734	512|512	0.6754617414248021|0.6754617414248021	.|.	4.918|4.918	0.170594|0.170594	0.09391|0.09391	0.832954|0.832954	0.729856|0.729856	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.01725	.|4.67;4.67	5.05|5.05	1.29|1.29	0.21616|0.21616	.|Concanavalin A-like lectin/glucanase (1);MAM domain (3);	.|0.463995	.|0.19512	.|N	.|0.112484	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.63428|0.63428	1.95|1.95	0.46437|0.46437	P|P	9.510000000000352E-4|9.510000000000352E-4	.|B;P	.|0.40970	.|0.181;0.734	.|B;P	.|0.44696	.|0.287;0.458	T|T	0.23404|0.23404	-1.0189|-1.0189	4|9	.|0.10636	.|T	.|0.68	-9.2031|-9.2031	3.7674|3.7674	0.08627|0.08627	0.1504:0.2498:0.0:0.5998|0.1504:0.2498:0.0:0.5998	rs2275156;rs57694508|rs2275156;rs57694508	.|987;908	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	R|G	972|908;987	.|ENSP00000319388:W908G;ENSP00000411339:W987G	.|ENSP00000319388:W908G	L|W	+|+	2|1	0|0	MAMDC4|MAMDC4	138872720|138872720	0.007000|0.007000	0.16637|0.16637	0.232000|0.232000	0.24009|0.24009	0.941000|0.941000	0.58515|0.58515	0.076000|0.076000	0.14712|0.14712	-0.021000|-0.021000	0.14009|0.14009	0.459000|0.459000	0.35465|0.35465	CTG|TGG		0.692	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		G	139752899	T	G	139752899	3	3	57	1	0	0	0	0	1	0	0	0	9204	1580	55	5	2808	5	MAMDC4	9	139752899	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	120811120	139752899	1460532	35	5634											
ENTPD2	954	broad.mit.edu	37	chr9	139946006	139946006	+	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	gctcccaggtagaggggtgtGcccgcgtgtctctctttggg	3	11	16	11	2	2	1	0	0	2	1	4	1	3	1	2	4	1	2	2	4	1	2			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr9:139946006G>T	ENST00000355097.2	-	3	389	c.342C>A	c.(340-342)ggC>ggA	p.G114G	ENTPD2_ENST00000312665.5_Silent_p.G114G|ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	114					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)		AGAGGGGTGTGCCCGCGTGTC	0.617																																						.											0													67	64	65					9																	139946006		2202	4299	6501	SO:0001819	synonymous_variant	954			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.342C>A	9.37:g.139946006G>T			O15464|Q5SPY6|Q5SPY7	Silent	SNP	ENST00000355097.2	37	CCDS7026.1																																																																																				0.617	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		T	139946006	G	T	139946006	2	4	57	1	0	0	0	0	0	0	0	1	5139	1306	46	5		5	ENTPD2	9	139946006	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10	193107	139946006	1267425	36	5635											
ADD3	120	bcgsc.ca	37	chr10	111890182	111890182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacccatttagtcatcTcacagaaggagaacttgaag	14	10	7	10	0	2	3	2	1	1	2	4	4	3	3	2	1	2	0	2	1	5	4			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr10:111890182T>C	ENST00000356080.4	+	13	2037	c.1670T>C	c.(1669-1671)cTc>cCc	p.L557P	ADD3_ENST00000277900.8_Missense_Mutation_p.L557P|ADD3_ENST00000360162.3_Missense_Mutation_p.L557P	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	557						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTTAGTCATCTCACAGAAGGA	0.383																																						.											0													156	142	147					10																	111890182		2203	4300	6503	SO:0001583	missense	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1670T>C	10.37:g.111890182T>C	ENSP00000348381:p.Leu557Pro		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117345	0.77323	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.20738	2.05;2.05;2.05	5.9	5.9	0.94986	.	0.121775	0.56097	D	0.000032	T	0.48390	0.1497	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.949;0.992	T	0.50372	-0.8836	10	0.87932	D	0	-4.0791	16.3291	0.83001	0.0:0.0:0.0:1.0	.	557;557	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	P	557	ENSP00000353286:L557P;ENSP00000348381:L557P;ENSP00000277900:L557P	ENSP00000277900:L557P	L	+	2	0	ADD3	111880172	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.989000	0.63870	2.257000	0.74773	0.528000	0.53228	CTC		0.383	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		C	111890182	T	C	111890182	3	2	57	1	0	0	0	0	1	0	0	0	306	1551	54	2	1716	2	ADD3	10	111890182	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10		111890182	23644565	37	5636											
SYT8	90019	mdanderson.org	37	chr11	1858572	1858572	+	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	cccggcggcccattgcccagCggcaccccctgcggccagcc	4	3	12	22	4	0	0	0	0	0	0	0	0	0	0	7	4	4	1	7	4	0	1	rs2292474	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381911.1_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		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)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481					.											0								T	TRP/ARG	906,3442		119,668,1387	12	14	14		1117	2.7	1	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858572	C	T	1858572	3	4	57	1	0	0	0	0	1	0	0	0	15477	759	27	1	1151	1	SYT8	11	1858572	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		1858572	133147944	38	5637											
SYT9	143425	broad.mit.edu	37	chr11	7439309	7439309	+	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	atagtctttgatgtccctccCgagaacattgaccaaatcca	12	11	6	12	1	1	3	0	2	1	1	4	4	4	3	4	0	1	0	4	0	3	3	rs375976845		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:7439309C>T	ENST00000318881.6	+	5	1524	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	429	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.P429P(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGTCCCTCCCGAGAACATTG	0.473													C|||	1	0.000199681	0	0.0014	5008	,	,		23605	0		0	False		,,,				2504	0					.											1	Substitution - coding silent(1)	lung(1)						C		1,4401	2.1+/-5.4	0,1,2200	175	147	157		1287	-11.7	0.7	11		157	0,8592		0,0,4296	no	coding-synonymous	SYT9	NM_175733.3		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		429/492	7439309	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1287C>T	11.37:g.7439309C>T				Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.473	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		T	7439309	C	T	7439309	2	4	57	1	0	0	0	0	0	0	0	1	15478	639	23	1		1	SYT9	11	7439309	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	5580737	7439309	127567207	39	5638											
QSER1	79832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	32954825	32954825	+	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	ttcccctgacccaaagtcttAtgctgaaagaaagcttgact	12	11	7	11	0	1	4	0	3	1	1	2	4	2	4	3	0	2	2	3	0	4	3			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:32954825A>T	ENST00000399302.2	+	4	1969	c.1634A>T	c.(1633-1635)tAt>tTt	p.Y545F	QSER1_ENST00000527788.1_Missense_Mutation_p.Y306F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	545										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)					CCAAAGTCTTATGCTGAAAGA	0.413																																						.											0													108	102	104					11																	32954825		1889	4123	6012	SO:0001583	missense	79832			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.1634A>T	11.37:g.32954825A>T	ENSP00000382241:p.Tyr545Phe		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851349	0.32699	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.24908	2.16;1.83	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000014	T	0.44932	0.1317	M	0.64997	1.995	0.42017	D	0.990965	D;D;D	0.67145	0.995;0.996;0.993	P;P;P	0.60609	0.852;0.877;0.757	T	0.44967	-0.9293	10	0.59425	D	0.04	.	15.0045	0.71501	1.0:0.0:0.0:0.0	.	306;306;545	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	F	545;306;306	ENSP00000382241:Y545F;ENSP00000432766:Y306F	ENSP00000078652:Y306F	Y	+	2	0	QSER1	32911401	1.000000	0.71417	0.958000	0.39756	0.017000	0.09413	5.277000	0.65586	2.019000	0.59389	0.482000	0.46254	TAT		0.413	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32954825	A	T	32954825	3	4	57	1	0	0	0	0	1	0	0	0	12882	449	16	5	1640	5	QSER1	11	32954825	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	25515516	32954825	102051691	40	5639											
CAPRIN1	4076	broad.mit.edu	37	chr11	34118204	34118204	+	Frame_Shift_Del	DEL	T	T	-																															atgaatggataccggggcccTgccaatggattcagaggtaa																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:34118204delT	ENST00000341394.4	+	16	2073	c.1884delT	c.(1882-1884)cctfs	p.P628fs	CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Frame_Shift_Del_p.P628fs|CAPRIN1_ENST00000532820.1_Frame_Shift_Del_p.P628fs|CAPRIN1_ENST00000529307.1_Frame_Shift_Del_p.P547fs|CAPRIN1_ENST00000530820.1_Frame_Shift_Del_p.P628fs	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	628					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ACCGGGGCCCTGCCAATGGAT	0.403																																						.											0													57	63	61					11																	34118204		2202	4298	6500	SO:0001589	frameshift_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1884delT	11.37:g.34118204delT	ENSP00000340329:p.Pro628fs		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Frame_Shift_Del	DEL	ENST00000341394.4	37	CCDS31453.1																																																																																				0.403	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		-	34118204	T	-	34118204	7	5	57	1	0	1	0	1	0	0	0	0	2635	1567	55	0	1942	0	CAPRIN1	11	34118204	Frame_Shift_Del	DEL	T	TCGA-KO-8407-01A-11D-2310-10	1163379	34118204	100888312	41	5640											
OR5A1	219982	mdanderson.org	37	chr11	59211421	59211421	+	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	ctgtttgggacagcccttttCgtgtacttgcgacccagctc	5	13	10	13	2	0	0	0	0	0	0	2	2	0	1	2	1	4	3	2	1	1	5	rs17591107	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:59211421C>T	ENST00000302030.2	+	1	805	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	260						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(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CAGCCCTTTTCGTGTACTTGC	0.537													C|||	630	0.125799	0.0242	0.1326	5008	,	,		21088	0.1111		0.2525	False		,,,				2504	0.1431					.											0								C		251,4151	146.9+/-181.5	10,231,1960	265	215	232		780	6	1	11	dbSNP_123	232	2264,6326	383.3+/-340.7	283,1698,2314	no	coding-synonymous	OR5A1	NM_001004728.1		293,1929,4274	TT,TC,CC		26.3562,5.702,19.3581		260/316	59211421	2515,10477	2201	4295	6496	SO:0001819	synonymous_variant	219982			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.780C>T	11.37:g.59211421C>T			B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	CCDS31561.1																																																																																				0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59211421	C	T	59211421	2	4	57	1	0	0	0	0	0	0	0	1	11139	883	31	1		1	OR5A1	11	59211421	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	25093217	59211421	75795095	42	5641											
C11orf9	745	broad.mit.edu	37	chr11	61537812	61537813	+	Frame_Shift_Ins	INS	-	-	C																															ccccacctccagcccacttgINSccaggccccccgccaccccc																								rs531308836	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:61537812_61537813insC	ENST00000278836.5	+	5	651_652	c.555_556insC	c.(556-558)ccafs	p.P186fs	MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P177fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	186	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)										CAGCCCACTTGCCAGGCCCCCC	0.688																																						.											0																																										SO:0001589	frameshift_variant	745				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.557dupC	11.37:g.61537814_61537814dupC	ENSP00000278836:p.Pro186fs		O43582|Q9P1Q6	Frame_Shift_Ins	INS	ENST00000278836.5	37	CCDS44622.1																																																																																				0.688	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		C	61537813	-	C	61537812	7	5	57	1	0	1	1	0	0	0	0	0	1671	1310	46	0	596	0	C11orf9	11	61537812	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	2326391	61537812	73468704	43	5642											
FRMD8	83786	broad.mit.edu	37	chr11	65172422	65172423	+	Frame_Shift_Ins	INS	-	-	C																															ccaggacagtgcgactggctINScgccctcggaccccagctcc																								rs139552682		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:65172422_65172423insC	ENST00000317568.5	+	10	1322_1323	c.1159_1160insC	c.(1159-1161)tcgfs	p.S387fs	FRMD8_ENST00000355991.5_Frame_Shift_Ins_p.S331fs|FRMD8_ENST00000416776.2_Frame_Shift_Ins_p.S353fs	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	387						cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TGCGACTGGCTCGCCCTCGGAC	0.663																																						.											0																																										SO:0001589	frameshift_variant	83786			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1160dupC	11.37:g.65172423_65172423dupC	ENSP00000319726:p.Ser387fs		B4E2P1|Q86V56|Q8NCB5	Frame_Shift_Ins	INS	ENST00000317568.5	37	CCDS8102.1																																																																																				0.663	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		C	65172423	-	C	65172422	7	5	57	1	0	1	1	0	0	0	0	0	6056	1551	54	0	1193	0	FRMD8	11	65172422	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	3634610	65172422	69834094	44	5643											
IQSEC3	440073	mdanderson.org	37	chr12	248071	248071	+	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	gccaactgcctgggcgctcaGacggtccaggcccccgcaga	7	4	13	17	3	1	2	1	0	0	2	2	2	2	2	5	3	2	2	5	3	1	0	rs77474006	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:248071G>C	ENST00000538872.1	+	4	1660	c.1542G>C	c.(1540-1542)caG>caC	p.Q514H	IQSEC3_ENST00000326261.4_Missense_Mutation_p.Q514H|RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.Q211H			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	514				Q -> H (in Ref. 1; AK091953). {ECO:0000305}.	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)		TGGGCGCTCAGACGGTCCAGG	0.711													G|||	285	0.0569089	0.0106	0.1023	5008	,	,		11482	0.0923		0.0487	False		,,,				2504	0.0593					.											0								G	HIS/GLN,HIS/GLN	89,4315		2,85,2115	28	24	26		633,1542	1.8	0	12	dbSNP_131	26	516,8078		20,476,3801	yes	missense,missense	IQSEC3	NM_015232.1,NM_001170738.1	24,24	22,561,5916	CC,CG,GG		6.0042,2.0209,4.6546	benign,benign	211/760,514/1183	248071	605,12393	2202	4297	6499	SO:0001583	missense	440073			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.1542G>C	12.37:g.248071G>C	ENSP00000437554:p.Gln514His		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	CCDS53728.1	114	0.0521978021978022	3	0.006097560975609756	28	0.07734806629834254	46	0.08041958041958042	37	0.048812664907651716	G	16.49	3.137794	0.56936	0.020209	0.060042	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.10288	2.89;2.89;2.9	5.14	1.79	0.24919	.	2.881560	0.00496	N	0.000144	T	0.00815	0.0027	M	0.68952	2.095	0.80722	P	0.0	B;B	0.14805	0.011;0.004	B;B	0.12156	0.005;0.007	T	0.27468	-1.0073	9	0.54805	T	0.06	.	7.7839	0.29080	0.1955:0.1367:0.6678:0.0	.	514;211	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	H	514;514;211	ENSP00000437554:Q514H;ENSP00000315662:Q514H;ENSP00000372292:Q211H	ENSP00000315662:Q514H	Q	+	3	2	IQSEC3	118332	0.024000	0.19004	0.018000	0.16275	0.006000	0.05464	0.502000	0.22594	0.543000	0.28864	0.561000	0.74099	CAG		0.711	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		C	248071	G	C	248071	3	2	57	1	0	0	0	0	1	0	0	0	7819	933	33	5	1556	5	IQSEC3	12	248071	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		248071	133603824	45	5644											
PRB4	5545	mdanderson.org	37	chr12	11461742	11461742	+	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	tcctccttgtgggggtggtcCttgtggctttcctggaggag	2	14	16	9	0	0	0	0	0	0	0	4	2	4	2	4	6	0	1	4	6	0	3			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:11461742C>T	ENST00000535904.1	-	3	208	c.175G>A	c.(175-177)Gga>Aga	p.G59R	PRB4_ENST00000279575.1_Missense_Mutation_p.G59R|PRB4_ENST00000445719.2_Missense_Mutation_p.G59R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	80	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						GGGGGTGGTCCTTGTGGCTTT	0.627										HNSCC(22;0.051)																												.											0													205	222	216					12																	11461742		2201	4293	6494	SO:0001583	missense	5545				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.175G>A	12.37:g.11461742C>T	ENSP00000442834:p.Gly59Arg		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	1.855	-0.464114	0.04476	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04862	3.54;3.54;3.54	0.956	-1.91	0.07641	.	.	.	.	.	T	0.06554	0.0168	M	0.66297	2.02	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.40079	-0.9582	9	0.31617	T	0.26	.	2.5673	0.04786	0.0:0.3453:0.2742:0.3805	.	59	E9PAL0	.	R	59	ENSP00000279575:G59R;ENSP00000442834:G59R;ENSP00000412740:G59R	ENSP00000279575:G59R	G	-	1	0	PRB4	11353009	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.693000	0.00829	-1.187000	0.02709	0.196000	0.17591	GGA		0.627	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		T	11461742	C	T	11461742	3	4	57	1	0	0	0	0	1	0	0	0	12445	690	24	4	572	4	PRB4	12	11461742	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	11213671	11461742	122390153	46	5645											
DDX11	1663	mdanderson.org	37	chr12	31242999	31242999	+	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	cccgggcctgtccctattacGggagccgccttgccatccct	4	9	10	18	3	0	0	0	0	0	0	2	1	2	1	7	2	3	0	7	2	2	3	rs553935649	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:31242999G>A	ENST00000407793.2	+	9	1311	c.1060G>A	c.(1060-1062)Ggg>Agg	p.G354R	DDX11_ENST00000350437.4_Missense_Mutation_p.G354R|DDX11_ENST00000545668.1_Missense_Mutation_p.G354R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.G354R|DDX11_ENST00000228264.6_Missense_Mutation_p.G328R	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	354	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)					TCCCTATTACGGGAGCCGCCT	0.657										Multiple Myeloma(12;0.14)			G|||	521	0.104034	0.0446	0.1412	5008	,	,		17385	0.131		0.1501	False		,,,				2504	0.0828					.											0													2	2	2					12																	31242999		1402	2986	4388	SO:0001583	missense	1663			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.1060G>A	12.37:g.31242999G>A	ENSP00000384703:p.Gly354Arg		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205774	0.58234	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.70749	-0.49;-0.51;-0.49;-0.51;-0.51	3.98	3.98	0.46160	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.224870	0.45126	D	0.000399	T	0.80879	0.4708	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.981;0.957;0.99;0.959;0.973	T	0.81669	-0.0828	10	0.59425	D	0.04	.	8.967	0.35883	0.0:0.0:0.7785:0.2215	.	79;328;354;354;354	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	R	354;354;79;328;354;354	ENSP00000443426:G354R;ENSP00000384703:G354R;ENSP00000228264:G328R;ENSP00000440402:G354R;ENSP00000309965:G354R	ENSP00000228264:G328R	G	+	1	0	DDX11	31134266	1.000000	0.71417	0.962000	0.40283	0.851000	0.48451	4.533000	0.60615	2.038000	0.60285	0.505000	0.49811	GGG		0.657	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31242999	G	A	31242999	3	1	57	1	0	0	0	0	1	0	0	0	4343	1116	39	1	1090	1	DDX11	12	31242999	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	19781257	31242999	102608896	47	5646											
MLL2	8085	broad.mit.edu	37	chr12	49415604	49415605	+	Frame_Shift_Ins	INS	-	-	G																															ttccaggctccacagtggcaINSggggatcttgtgctgatcgt																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:49415604_49415605insG	ENST00000301067.7	-	54	16571_16572	c.16572_16573insC	c.(16570-16575)ccctgcfs	p.C5525fs	PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5525	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				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)										CCACAGTGGCAGGGGATCTTGT	0.51																																						.											0																																										SO:0001589	frameshift_variant	8085			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.16573dupC	12.37:g.49415608_49415608dupG	ENSP00000301067:p.Cys5525fs		O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	CCDS44873.1																																																																																				0.51	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49415605	-	G	49415604	7	5	57	1	0	1	1	0	0	0	0	0	9621	188	7	0	44	0	MLL2	12	49415604	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	18172605	49415604	84436291	48	5647											
KRT6B	3854	mdanderson.org	37	chr12	52843581	52843581	+	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	aggaagttgatctcatctgtAagagtgtctgccttggcttg	8	14	12	7	0	3	2	1	1	3	1	4	3	3	3	1	2	1	3	1	2	2	4	rs382894		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:52843581A>G	ENST00000252252.3	-	4	920	c.873T>C	c.(871-873)ctT>ctC	p.L291L		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	291	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.L291L(1)		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)		TCTCATCTGTAAGAGTGTCTG	0.488																																						.											1	Substitution - coding silent(1)	prostate(1)											186	173	177					12																	52843581		2203	4300	6503	SO:0001819	synonymous_variant	3854			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.873T>C	12.37:g.52843581A>G			P48669	Silent	SNP	ENST00000252252.3	37	CCDS8828.1																																																																																				0.488	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		G	52843581	A	G	52843581	2	3	57	1	0	0	0	0	0	0	0	1	8481	349	13	4		4	KRT6B	12	52843581	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10	3427977	52843581	81008314	49	5648											
CEP290	80184	broad.mit.edu	37	chr12	88443060	88443060	+	Frame_Shift_Del	DEL	T	T	-																															actcccaattgttctgaaagTttttttaccttctcttctaa																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:88443060delT	ENST00000552810.1	-	54	7684	c.7341delA	c.(7339-7341)aaafs	p.K2447fs	CEP290_ENST00000397838.3_Frame_Shift_Del_p.K1507fs|C12orf29_ENST00000356891.3_3'UTR|CEP290_ENST00000309041.7_Frame_Shift_Del_p.K2449fs|CEP290_ENST00000547691.2_Frame_Shift_Del_p.K1507fs|RNA5SP364_ENST00000516938.1_RNA	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2447					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						GTTCTGAAAGTTTTTTTACCT	0.308																																						.											0													80	79	80					12																	88443060		1796	4061	5857	SO:0001589	frameshift_variant	80184			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.7341delA	12.37:g.88443060delT	ENSP00000448012:p.Lys2447fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																				0.308	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		-	88443060	T	-	88443060	7	5	57	1	0	1	0	1	0	0	0	0	3253	1722	60	0	102	0	CEP290	12	88443060	Frame_Shift_Del	DEL	T	TCGA-KO-8407-01A-11D-2310-10	35599479	88443060	45408835	50	5649											
BRAP	8315	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr12	112082340	112082340	+	Missense_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	tgagctcgttggtgagtttgGccacttttgtgtttagctga	5	17	13	6	1	0	3	0	3	0	0	1	3	0	3	1	2	2	5	1	2	1	6			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:112082340G>A	ENST00000327551.6	-	12	1492	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	BRAP_ENST00000539060.1_Missense_Mutation_p.A302V|BRAP_ENST00000419234.4_Missense_Mutation_p.A481V			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GGTGAGTTTGGCCACTTTTGT	0.458																																					Pancreas(146;846 1904 7830 25130 26065)	.											0													106	99	102					12																	112082340		2203	4300	6503	SO:0001583	missense	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1352C>T	12.37:g.112082340G>A	ENSP00000330813:p.Ala451Val		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37		.	.	.	.	.	.	.	.	.	.	G	14.69	2.610943	0.46631	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.46819	0.86;0.89;0.88	5.8	5.8	0.92144	.	0.105878	0.64402	D	0.000003	T	0.41604	0.1166	L	0.39397	1.21	0.58432	D	0.999994	B;B	0.06786	0.0;0.001	B;B	0.10450	0.0;0.005	T	0.13442	-1.0509	10	0.30078	T	0.28	-14.4681	16.3021	0.82825	0.0:0.1322:0.8678:0.0	.	302;481	B4DRM1;Q7Z569	.;BRAP_HUMAN	V	481;302;451;263	ENSP00000403524:A481V;ENSP00000441659:A302V;ENSP00000330813:A451V	ENSP00000330813:A451V	A	-	2	0	BRAP	110566723	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.532000	0.67154	2.737000	0.93849	0.557000	0.71058	GCC		0.458	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			A	112082340	G	A	112082340	3	1	57	1	0	0	0	0	1	0	0	0	1497	1203	42	3	340	3	BRAP	12	112082340	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	23639280	112082340	21769555	51	5650											
WDR66	144406	broad.mit.edu	37	chr12	122361543	122361543	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagaaaacccaaagaggtAgcaagtcaaagctttcctta	18	8	7	8	0	1	2	1	0	0	2	2	2	2	2	2	1	3	3	2	1	9	4			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:122361543A>G	ENST00000288912.4	+	3	1248	c.394A>G	c.(394-396)Agc>Ggc	p.S132G	WDR66_ENST00000397454.2_Missense_Mutation_p.S132G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	132							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCAAAGAGGTAGCAAGTCAAA	0.363																																					Esophageal Squamous(85;849 1794 49757 52143)	.											0													72	66	68					12																	122361543		1831	4084	5915	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.394A>G	12.37:g.122361543A>G	ENSP00000288912:p.Ser132Gly		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	A	6.574	0.474291	0.12521	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.18338	2.22;2.22	3.04	0.672	0.17935	.	1.271310	0.05890	N	0.628150	T	0.09818	0.0241	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35822	-0.9773	10	0.32370	T	0.25	.	4.7844	0.13219	0.7199:0.0:0.2801:0.0	.	132	Q8TBY9	WDR66_HUMAN	G	132	ENSP00000288912:S132G;ENSP00000380595:S132G	ENSP00000288912:S132G	S	+	1	0	WDR66	120845926	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.276000	0.18716	0.130000	0.18549	0.377000	0.23210	AGC		0.363	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		G	122361543	A	G	122361543	3	3	57	1	0	0	0	0	1	0	0	0	17314	420	15	2	400	2	WDR66	12	122361543	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	10279203	122361543	11490352	52	5651											
PABPC3	5042	mdanderson.org	37	chr13	25671742	25671742	+	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	agcttcttcacaggttccacGagtcatgtcaacgcagcgtg	9	10	10	12	3	4	0	3	0	1	0	5	1	5	0	1	1	3	3	1	1	1	3	rs140135080	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr13:25671742G>A	ENST00000281589.3	+	1	1443	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	469					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)		CAGGTTCCACGAGTCATGTCA	0.547																																						.											0													104	96	98					13																	25671742		2203	4300	6503	SO:0001583	missense	5042			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.1406G>A	13.37:g.25671742G>A	ENSP00000281589:p.Arg469Gln		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	6.381	0.438497	0.12104	.	.	ENSG00000151846	ENST00000281589	T	0.26223	1.75	0.875	-0.195	0.13236	.	0.000000	0.40064	U	0.001189	T	0.13114	0.0318	L	0.35288	1.05	0.42075	D	0.991227	B	0.06786	0.001	B	0.06405	0.002	T	0.20638	-1.0269	10	0.10902	T	0.67	.	5.1429	0.14969	0.252:0.0:0.748:0.0	.	469	Q9H361	PABP3_HUMAN	Q	469	ENSP00000281589:R469Q	ENSP00000281589:R469Q	R	+	2	0	PABPC3	24569742	1.000000	0.71417	0.977000	0.42913	0.138000	0.21146	3.032000	0.49736	-0.094000	0.12374	0.313000	0.20887	CGA		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671742	G	A	25671742	3	1	57	1	0	0	0	0	1	0	0	0	11365	1058	37	1	1408	1	PABPC3	13	25671742	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		25671742	89498136	53	5652			1	46		2	2	18	N	G_C	4.722609e-05
PABPC3	5042	mdanderson.org	37	chr13	25671759	25671759	+	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	cacgagtcatgtcaacgcagCgtgttgctaacacatcaaca	13	8	8	12	3	3	0	3	0	0	0	3	1	3	0	0	0	5	3	0	0	3	2	rs115121649	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr13:25671759C>T	ENST00000281589.3	+	1	1460	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	475					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)		GTCAACGCAGCGTGTTGCTAA	0.532																																						.											0													93	84	87					13																	25671759		2203	4300	6503	SO:0001583	missense	5042			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.1423C>T	13.37:g.25671759C>T	ENSP00000281589:p.Arg475Cys		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562727	0.13498	.	.	ENSG00000151846	ENST00000281589	T	0.29142	1.58	0.875	-1.75	0.08031	.	0.000000	0.48767	U	0.000176	T	0.32346	0.0826	M	0.86740	2.835	0.52501	D	0.999952	B	0.11235	0.004	B	0.06405	0.002	T	0.03750	-1.1007	10	0.48119	T	0.1	.	6.6426	0.22917	0.0:0.732:0.0:0.268	.	475	Q9H361	PABP3_HUMAN	C	475	ENSP00000281589:R475C	ENSP00000281589:R475C	R	+	1	0	PABPC3	24569759	1.000000	0.71417	0.869000	0.34112	0.045000	0.14185	1.663000	0.37429	-0.898000	0.03906	-1.305000	0.01319	CGT		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671759	C	T	25671759	3	4	57	1	0	0	0	0	1	0	0	0	11365	768	27	1	1425	1	PABPC3	13	25671759	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	17	25671759	89498119	54	5653			1	46		2	2	18	N	G_C	4.722609e-05
LECT1	11061	ucsc.edu	37	chr13	53313218	53313218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgatggccccaaagagcAgcagcacagctcccgaaatg	12	3	10	16	2	0	1	0	0	0	1	1	3	1	1	5	1	4	4	5	1	2	0			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr13:53313218A>G	ENST00000377962.3	-	2	239	c.161T>C	c.(160-162)cTg>cCg	p.L54P	LECT1_ENST00000448904.2_Missense_Mutation_p.L54P			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	54					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;3.38e-08)		CCCAAAGAGCAGCAGCACAGC	0.692																																						.											0													28	38	35					13																	53313218		2203	4298	6501	SO:0001583	missense	11061			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.161T>C	13.37:g.53313218A>G	ENSP00000367198:p.Leu54Pro		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609899	0.66558	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.48836	0.81;0.8	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000002	T	0.56426	0.1984	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.994	D;D;P	0.68192	0.956;0.939;0.87	T	0.61163	-0.7118	10	0.87932	D	0	.	13.8929	0.63750	1.0:0.0:0.0:0.0	.	90;54;54	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	P	54	ENSP00000388576:L54P;ENSP00000367198:L54P	ENSP00000367198:L54P	L	-	2	0	LECT1	52211219	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	8.309000	0.89969	1.670000	0.50864	0.379000	0.24179	CTG		0.692	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			G	53313218	A	G	53313218	3	3	57	1	0	0	0	0	1	0	0	0	8712	188	7	2	867	2	LECT1	13	53313218	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	27641459	53313218	61856660	55	5654											
C14orf149	112849	mdanderson.org	37	chr14	59950690	59950690	+	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	ggcacaagcccgaagtccaaAgcgaagcggcccagcgccag	12	1	13	15	4	0	0	0	0	0	0	1	2	1	0	4	2	4	1	4	2	4	0	rs2296842	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr14:59950690A>C	ENST00000247194.4	-	1	458	c.345T>G	c.(343-345)gcT>gcG	p.A115A	JKAMP_ENST00000556985.1_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000554271.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	115					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CGAAGTCCAAAGCGAAGCGGC	0.706											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1328	0.265176	0.1861	0.3833	5008	,	,		16051	0.1825		0.2376	False		,,,				2504	0.4018					.											0								A		853,3413		111,631,1391	10	10	10		345	-9.7	0	14	dbSNP_100	10	1857,6475		235,1387,2544	no	coding-synonymous	C14orf149	NM_144581.1		346,2018,3935	CC,CA,AA		22.2876,19.9953,21.5114		115/355	59950690	2710,9888	2133	4166	6299	SO:0001819	synonymous_variant	112849			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.345T>G	14.37:g.59950690A>C		1042	Q96LJ5	Silent	SNP	ENST00000247194.4	37	CCDS9739.1																																																																																				0.706	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		C	59950690	A	C	59950690	2	2	57	1	0	0	0	0	0	0	0	1	1752	59	3	5		5	C14orf149	14	59950690	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10		59950690	47398850	56	5655											
ADAM21	8747	mdanderson.org	37	chr14	70924335	70924335	+	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	ctcccagcatttcacttcccCggaagtggtgatccccttga	7	11	8	15	1	1	2	1	2	0	0	4	3	4	3	5	2	1	1	5	2	1	3	rs199920662	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr14:70924335C>T	ENST00000603540.1	+	2	377	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ADAM21_ENST00000267499.3_Missense_Mutation_p.P40L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	40					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)		TTCACTTCCCCGGAAGTGGTG	0.547																																						.											0													97	102	100					14																	70924335		2203	4300	6503	SO:0001583	missense	8747			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.119C>T	14.37:g.70924335C>T	ENSP00000474385:p.Pro40Leu		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660648	0.14645	.	.	ENSG00000139985	ENST00000267499	T	0.01051	5.4	3.77	2.87	0.33458	.	0.239499	0.21690	U	0.070593	T	0.01870	0.0059	M	0.79343	2.45	0.29294	N	0.869135	P	0.36412	0.552	B	0.34652	0.187	T	0.20706	-1.0267	10	0.32370	T	0.25	.	7.3425	0.26646	0.0:0.8757:0.0:0.1243	.	40	Q9UKJ8	ADA21_HUMAN	L	40	ENSP00000267499:P40L	ENSP00000267499:P40L	P	+	2	0	ADAM21	69994088	0.007000	0.16637	0.766000	0.31476	0.269000	0.26545	0.312000	0.19397	0.924000	0.37069	0.563000	0.77884	CCG		0.547	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70924335	C	T	70924335	3	4	57	1	0	0	0	0	1	0	0	0	243	652	23	1	121	1	ADAM21	14	70924335	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	10973645	70924335	36425205	57	5656											
PRIMA1	145270	mdanderson.org	37	chr14	94245649	94245649	+	Silent	SNP	A	A	G																															caggacttctggggctcaccAtgcgtcacctgtacacatgg																								rs4905087	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr14:94245649A>G	ENST00000393140.1	-	3	204	c.102T>C	c.(100-102)caT>caC	p.H34H	PRIMA1_ENST00000393143.1_Silent_p.H34H|PRIMA1_ENST00000316227.3_Silent_p.H34H	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	34					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GGGGCTCACCATGCGTCACCT	0.652													G|||	2933	0.585663	0.6271	0.6239	5008	,	,		9302	0.3155		0.7873	False		,,,				2504	0.5736					.											0								G		2825,1579		907,1011,284	40	34	36		102	-2	0.3	14	dbSNP_111	36	6650,1944		2582,1486,229	no	coding-synonymous	PRIMA1	NM_178013.3		3489,2497,513	GG,GA,AA		22.6204,35.8538,27.1042		34/154	94245649	9475,3523	2202	4297	6499	SO:0001819	synonymous_variant	145270				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.102T>C	14.37:g.94245649A>G			Q86XR6	Silent	SNP	ENST00000393140.1	37	CCDS9912.1																																																																																				0.652	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		G	94245649	A	G	94245649	2	3	57	1	0	0	0	0	0	0	0	1	12492	214	8	4		4	PRIMA1	14	94245649	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10	23321314	94245649	13103891	58	5657	147	2									
PRIMA1	145270	mdanderson.org	37	chr14	94245652	94245652	+	Silent	SNP	C	C	T																															gacttctggggctcaccatgCgtcacctgtacacatgggca																								rs4900195	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr14:94245652C>T	ENST00000393140.1	-	3	201	c.99G>A	c.(97-99)acG>acA	p.T33T	PRIMA1_ENST00000393143.1_Silent_p.T33T|PRIMA1_ENST00000316227.3_Silent_p.T33T	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	33					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCTCACCATGCGTCACCTGTA	0.647													C|||	1818	0.363019	0.3949	0.3573	5008	,	,		9432	0.2302		0.4692	False		,,,				2504	0.3517					.											0								C		1764,2638		367,1030,804	40	34	36		99	-8.8	0.2	14	dbSNP_111	36	4098,4500		978,2142,1179	no	coding-synonymous	PRIMA1	NM_178013.3		1345,3172,1983	TT,TC,CC		47.6622,40.0727,45.0923		33/154	94245652	5862,7138	2201	4299	6500	SO:0001819	synonymous_variant	145270				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.99G>A	14.37:g.94245652C>T			Q86XR6	Silent	SNP	ENST00000393140.1	37	CCDS9912.1																																																																																				0.647	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		T	94245652	C	T	94245652	2	4	57	1	0	0	0	0	0	0	0	1	12492	755	27	1		1	PRIMA1	14	94245652	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	3	94245652	13103888	59	5658	147	2									
SPG11	80208	hgsc.bcm.edu;ucsc.edu	37	chr15	44881589	44881589	+	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	atggcagggatgacagggtgGacctttgtggctgctgtgtt	6	12	17	6	0	0	1	0	1	0	0	0	3	0	3	1	5	1	4	1	5	0	2			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr15:44881589G>A	ENST00000261866.7	-	28	4783	c.4767C>T	c.(4765-4767)gtC>gtT	p.V1589V	SPG11_ENST00000535302.2_Silent_p.V1589V|SPG11_ENST00000558319.1_Silent_p.V1589V|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Silent_p.V1589V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1589					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)		TGACAGGGTGGACCTTTGTGG	0.458																																						.											0													94	94	94					15																	44881589		2198	4298	6496	SO:0001819	synonymous_variant	80208				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.4767C>T	15.37:g.44881589G>A			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.458	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44881589	G	A	44881589	2	1	57	1	0	0	0	0	0	0	0	1	15040	1161	41	3		3	SPG11	15	44881589	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10		44881589	57649803	60	5659											
CALML4	91860	broad.mit.edu	37	chr15	68489865	68489866	+	In_Frame_Ins	INS	-	-	CAT																															cctttcttctccttgtccacINScatcaacatggctagaagaa																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr15:68489865_68489866insCAT	ENST00000467889.1	-	4	589_590	c.405_406insATG	c.(403-408)atggtg>atgATGgtg	p.135_136insM	CALML4_ENST00000395465.3_Intron|CALML4_ENST00000448060.2_In_Frame_Ins_p.88_89insM|RP11-315D16.2_ENST00000562767.1_In_Frame_Ins_p.61_62insD|CALML4_ENST00000540479.1_In_Frame_Ins_p.59_60insM	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	135	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCCTTGTCCACCATCAACATGG	0.475																																						.											0																																										SO:0001652	inframe_insertion	91860			AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"EF-hand domain containing"	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.403_405dupATG	15.37:g.68489866_68489868dupCAT	ENSP00000419081:p.Met135_Met135dup		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	In_Frame_Ins	INS	ENST00000467889.1	37	CCDS10226.2																																																																																				0.475	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429		CAT	68489866	-	CAT	68489865	7	5	57	1	0	1	1	0	0	0	0	0	2588	507	18	0	192	0	CALML4	15	68489865	In_Frame_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	23608276	68489865	34041527	61	5660											
ASB7	140460	broad.mit.edu	37	chr15	101170058	101170058	+	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	gggcagacacaaacttgggtCgcttagaagacggacagact	13	6	13	9	2	0	4	0	0	0	4	1	5	0	5	0	3	1	2	0	3	3	2			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr15:101170058C>T	ENST00000332783.7	+	5	1413	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.R210C	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	210					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R210C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AAACTTGGGTCGCTTAGAAGA	0.473																																						.											1	Substitution - Missense(1)	lung(1)											123	103	109					15																	101170058		2203	4300	6503	SO:0001583	missense	140460				CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"Ankyrin repeat domain containing"	17182	protein-coding gene	gene with protein product		615052	"ankyrin repeat and SOCS box-containing 7"				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.628C>T	15.37:g.101170058C>T	ENSP00000328327:p.Arg210Cys		A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548738	0.86127	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	T;T	0.53206	0.63;0.63	5.53	5.53	0.82687	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69654	0.965;0.932	T	0.65508	-0.6151	10	0.87932	D	0	-1.3671	14.655	0.68825	0.1454:0.8546:0.0:0.0	.	210;210	Q9H672;Q9H672-2	ASB7_HUMAN;.	C	210	ENSP00000328327:R210C;ENSP00000339819:R210C	ENSP00000328327:R210C	R	+	1	0	ASB7	98987581	0.996000	0.38824	0.999000	0.59377	0.994000	0.84299	3.434000	0.52841	2.755000	0.94549	0.650000	0.86243	CGC		0.473	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		T	101170058	C	T	101170058	3	4	57	1	0	0	0	0	1	0	0	0	1028	884	31	1	634	1	ASB7	15	101170058	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	32680193	101170058	1361334	62	5661											
TPSAB1	7177	mdanderson.org	37	chr16	1291160	1291160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcacctgccccagccccagGccaggccctgcagcgagtgg	6	3	14	18	1	0	0	0	0	0	0	0	1	0	0	7	4	4	2	7	4	0	0	rs141519544		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr16:1291160G>T	ENST00000338844.3	+	3	101	c.68G>T	c.(67-69)gGc>gTc	p.G23V	TPSAB1_ENST00000461509.2_Missense_Mutation_p.G30V	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	23			G -> V (in allele alpha; dbSNP:rs1141965). {ECO:0000269|PubMed:10898108}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G23V(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CCAGCCCCAGGCCAGGCCCTG	0.711																																						.											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											21	23	22					16																	1291160		2193	4291	6484	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.68G>T	16.37:g.1291160G>T	ENSP00000343577:p.Gly23Val		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	CCDS10431.1	745	0.3411172161172161	111	0.22560975609756098	106	0.292817679558011	262	0.458041958041958	266	0.35092348284960423	G	9.934	1.215703	0.22373	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.86497	-2.13;-2.13	2.84	0.752	0.18398	.	0.709020	0.11654	N	0.542536	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	D	0.56287	0.975	P	0.45660	0.489	T	0.17868	-1.0355	9	0.39692	T	0.17	.	4.3463	0.11134	0.1498:0.3033:0.5468:0.0	.	23	Q15661	TRYB1_HUMAN	V	23;30	ENSP00000343577:G23V;ENSP00000418247:G30V	ENSP00000343577:G23V	G	+	2	0	TPSAB1	1231161	0.001000	0.12720	0.035000	0.18076	0.629000	0.37895	0.668000	0.25127	0.237000	0.21200	0.479000	0.44913	GGC		0.711	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		T	1291160	G	T	1291160	3	4	57	1	0	0	0	0	1	0	0	0	16420	1203	42	5	74	5	TPSAB1	16	1291160	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		1291160	89063593	63	5662			2	47		2	2	23	N	G_C	6.11157e-05
TPSAB1	7177	mdanderson.org	37	chr16	1291182	1291182	+	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	caggccctgcagcgagtgggCatcgtcgggggtcaggaggc	6	5	19	11	3	1	0	1	0	0	0	3	2	1	1	1	6	2	2	1	6	0	0	rs112531166		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr16:1291182C>T	ENST00000338844.3	+	3	123	c.90C>T	c.(88-90)ggC>ggT	p.G30G	TPSAB1_ENST00000461509.2_Silent_p.G37G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	30					defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				AGCGAGTGGGCATCGTCGGGG	0.711																																						.											0													34	35	35					16																	1291182		2198	4299	6497	SO:0001819	synonymous_variant	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.90C>T	16.37:g.1291182C>T			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																				0.711	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		T	1291182	C	T	1291182	2	4	57	1	0	0	0	0	0	0	0	1	16420	697	25	4		4	TPSAB1	16	1291182	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	22	1291182	89063571	64	5663			2	47		2	2	23	N	G_C	6.11157e-05
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-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr16:31154780G>T	ENST00000268281.4	-	8	1041	c.983C>A	c.(982-984)gCc>gAc	p.A328D	PRSS36_ENST00000418068.2_Missense_Mutation_p.A328D|PRSS36_ENST00000569305.1_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																																						.											0													27	33	31					16																	31154780		2197	4300	6497	SO:0001583	missense	146547			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		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	57	1	0	0	0	0	1	0	0	0	12625	1203	42	5	1616	5	PRSS36	16	31154780	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	29863598	31154780	59199973	65	5664											
PIGS	94005	bcgsc.ca	37	chr17	26882056	26882056	+	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	ggcattttggaggcagctggGgctgagcaatcccaaagagc	10	7	15	9	0	0	2	0	1	0	1	1	3	1	3	1	5	3	5	1	5	2	2			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:26882056G>A	ENST00000308360.7	-	11	1580	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	PIGS_ENST00000543734.1_Missense_Mutation_p.P341L|PIGS_ENST00000395346.2_Missense_Mutation_p.P394L|UNC119_ENST00000301032.4_5'Flank|UNC119_ENST00000335765.4_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	402					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)					AGGCAGCTGGGGCTGAGCAAT	0.542																																						.											0													53	48	50					17																	26882056		2203	4300	6503	SO:0001583	missense	94005				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.1205C>T	17.37:g.26882056G>A	ENSP00000309430:p.Pro402Leu		Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	CCDS11235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.80|13.80	2.346509|2.346509	0.41599|0.41599	.|.	.|.	ENSG00000087111|ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734|ENST00000268758	T;T;T|.	0.40756|.	1.02;1.02;1.02|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.247996|0.247996	0.40302|0.40302	N|N	0.001139|0.001139	T|T	0.57344|0.57344	0.2047|0.2047	N|N	0.26042|0.26042	0.785|0.785	0.52099|0.52099	D|D	0.999945|0.999945	B;B|.	0.15930|.	0.015;0.012|.	B;B|.	0.18561|.	0.022;0.013|.	T|T	0.61806|0.61806	-0.6987|-0.6987	10|7	0.21540|0.87932	T|D	0.41|0	-24.0459|-24.0459	14.9809|14.9809	0.71311|0.71311	0.0:0.0:0.8485:0.1515|0.0:0.0:0.8485:0.1515	.|.	402;394|.	Q96S52;Q96S52-2|.	PIGS_HUMAN;.|.	L|S	394;402;341|144	ENSP00000378755:P394L;ENSP00000309430:P402L;ENSP00000438447:P341L|.	ENSP00000309430:P402L|ENSP00000268758:P144S	P|P	-|-	2|1	0|0	PIGS|PIGS	23906183|23906183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	2.584000|2.584000	0.46102|0.46102	2.538000|2.538000	0.85594|0.85594	0.462000|0.462000	0.41574|0.41574	CCC|CCC		0.542	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		A	26882056	G	A	26882056	3	1	57	1	0	0	0	0	1	0	0	0	11898	1232	43	3	470	3	PIGS	17	26882056	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10		26882056	54313154	66	5665											
MYST2	11143	broad.mit.edu;ucsc.edu	37	chr17	47893250	47893250	+	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	cttggatcttttccgaagagCacaagcccgggcttcagagg	9	9	12	11	2	2	2	1	0	1	2	3	4	3	3	2	3	2	2	2	3	2	4			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:47893250C>A	ENST00000259021.4	+	8	1218	c.938C>A	c.(937-939)gCa>gAa	p.A313E	KAT7_ENST00000435742.2_Missense_Mutation_p.A127E|KAT7_ENST00000510819.1_Missense_Mutation_p.A144E|KAT7_ENST00000454930.2_Missense_Mutation_p.A174E|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.A283E|KAT7_ENST00000509773.1_Missense_Mutation_p.A203E|KAT7_ENST00000503935.2_Missense_Mutation_p.A157E	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	313					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTCCGAAGAGCACAAGCCCGG	0.448																																						.											0													75	75	75					17																	47893250		2203	4300	6503	SO:0001583	missense	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.938C>A	17.37:g.47893250C>A	ENSP00000259021:p.Ala313Glu		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317390	0.95682	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.87269	2.87	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	0.997;0.991;0.997;0.998;0.999;0.998	D	0.86860	0.2029	9	0.87932	D	0	-13.841	18.8697	0.92308	0.0:1.0:0.0:0.0	.	276;144;203;174;313;283	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	E	313;174;203;144;283;157;127	.	ENSP00000259021:A313E	A	+	2	0	KAT7	45248249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.926000	0.75835	2.788000	0.95919	0.650000	0.86243	GCA		0.448	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		A	47893250	C	A	47893250	3	1	57	1	0	0	0	0	1	0	0	0	10103	710	25	5	968	5	MYST2	17	47893250	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	21011194	47893250	33301960	67	5666											
BPTF	2186	broad.mit.edu;hgsc.bcm.edu	37	chr17	65909291	65909291	+	Missense_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	ttctcctagaccgacctttgGcatcacttggaggtatgtac	8	13	9	11	1	2	1	1	0	1	1	3	3	2	2	3	3	1	3	3	3	3	6			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:65909291G>A	ENST00000321892.4	+	13	5730	c.5669G>A	c.(5668-5670)gGc>gAc	p.G1890D	BPTF_ENST00000424123.3_Missense_Mutation_p.G1751D|BPTF_ENST00000306378.6_Missense_Mutation_p.G1764D|BPTF_ENST00000335221.5_Missense_Mutation_p.G1890D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1890					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCGACCTTTGGCATCACTTGG	0.363																																						.											0													101	112	108					17																	65909291		2115	4264	6379	SO:0001583	missense	2186			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.5669G>A	17.37:g.65909291G>A	ENSP00000315454:p.Gly1890Asp		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613083	0.46631	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.61627	0.09;0.09;0.09	5.77	5.77	0.91146	.	.	.	.	.	T	0.63236	0.2494	N	0.12182	0.205	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.996;0.993	T	0.66460	-0.5918	9	0.46703	T	0.11	-12.7977	20.3626	0.98863	0.0:0.0:1.0:0.0	.	1764;1890	Q12830-2;Q12830-4	.;.	D	1764;1890;1890	ENSP00000307208:G1764D;ENSP00000334351:G1890D;ENSP00000315454:G1890D	ENSP00000307208:G1764D	G	+	2	0	BPTF	63339753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.823000	0.86660	2.885000	0.99019	0.655000	0.94253	GGC		0.363	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		A	65909291	G	A	65909291	3	1	57	1	0	0	0	0	1	0	0	0	1495	1203	42	3	5719	3	BPTF	17	65909291	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	18016041	65909291	15285919	68	5667											
FADS6	283985	mdanderson.org	37	chr17	72889685	72889685	+	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	gtaggttccatgggctccgtGggttccatggactctgtggg	4	12	16	9	1	1	0	0	0	1	0	4	1	4	1	3	5	0	4	3	5	1	3	rs2683274	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:72889685G>A	ENST00000310226.6	-	1	23	c.9C>T	c.(7-9)ccC>ccT	p.P3P		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	9	3 X 6 AA tandem repeat of M-E-P-T-E-P.				fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGGCTCCGTGGGTTCCATGG	0.746																																						.											0																																										SO:0001819	synonymous_variant	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.9C>T	17.37:g.72889685G>A			Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	CCDS54163.1																																																																																				0.746	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			A	72889685	G	A	72889685	2	1	57	1	0	0	0	0	0	0	0	1	5368	1335	47	4		4	FADS6	17	72889685	Silent	SNP	G	TCGA-KO-8407-01A-11D-2310-10	6980394	72889685	8305525	69	5668											
SEPT9	10801	broad.mit.edu	37	chr17	75398360	75398361	+	Frame_Shift_Ins	INS	-	-	G																															gtggagctctcgggccccaaINSggcggccgagccggtgtccc																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:75398360_75398361insG	ENST00000427177.1	+	3	422_423	c.296_297insG	c.(295-300)aaggcgfs	p.A100fs	SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000591198.1_Frame_Shift_Ins_p.A81fs|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000590294.1_Frame_Shift_Ins_p.A82fs|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000329047.8_Frame_Shift_Ins_p.A82fs|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000423034.2_Frame_Shift_Ins_p.A93fs	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	100					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TCGGGCCCCAAGGCGGCCGAGC	0.688																																						.											0																																										SO:0001589	frameshift_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.298dupG	17.37:g.75398362_75398362dupG	ENSP00000391249:p.Ala100fs		A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Frame_Shift_Ins	INS	ENST00000427177.1	37	CCDS45790.1																																																																																				0.688	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		G	75398361	-	G	75398360	7	5	57	1	0	1	1	0	0	0	0	0	14071	72	3	0	391	0	SEPT9	17	75398360	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	2508675	75398360	5796850	70	5669											
GPS1	2873	broad.mit.edu	37	chr17	80010268	80010268	+	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	0	0	0	0	0	0	0	cagcagtaggtcagacctcgTcctgcccggcacggccgggg	6	5	15	15	4	1	1	1	0	0	1	3	1	2	1	4	5	2	3	4	5	1	1			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:80010268T>C	ENST00000306823.6	+	1	56				RFNG_ENST00000429557.3_5'Flank|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000320548.4_5'UTR|GPS1_ENST00000578552.1_Intron|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.V29A|GPS1_ENST00000355130.2_Missense_Mutation_p.V29A			Q13098	CSN1_HUMAN	G protein pathway suppressor 1						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)			TCAGACCTCGTCCTGCCCGGC	0.647																																						.											0													43	39	40					17																	80010268		2196	4298	6494	SO:0001627	intron_variant	2873				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.33+428T>C	17.37:g.80010268T>C			Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	T	8.338	0.828139	0.16749	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000355130	.	.	.	3.33	2.24	0.28232	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.20764	N	0.99986	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28427	-1.0044	8	0.07175	T	0.84	-9.2856	7.3296	0.26575	0.0:0.1963:0.0:0.8037	.	29;29	A8K070;Q13098-7	.;.	A	29;57;29	.	ENSP00000313569:V57A	V	+	2	0	GPS1	77603557	0.113000	0.22115	0.585000	0.28666	0.356000	0.29392	0.467000	0.22035	1.141000	0.42275	0.240000	0.17902	GTC		0.647	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		C	80010268	T	C	80010268	1	2	57	0	1	0	0	0	0	0	0	0	6732	1667	58	2		2	GPS1	17	80010268	Intron	SNP	T	TCGA-KO-8407-01A-11D-2310-10	4611908	80010268	1184942	71	5670											
POTEC	388468	mdanderson.org	37	chr18	14542888	14542888	+	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	gtcttcataaaggagttgtcAtggtctccagaagtgcccac	10	11	10	10	0	4	1	2	0	2	1	5	2	4	2	2	2	1	1	2	2	3	3	rs543140115	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:14542888A>G	ENST00000358970.5	-	1	257	c.258T>C	c.(256-258)caT>caC	p.H86H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	86			H -> D (in dbSNP:rs45469098). {ECO:0000269|PubMed:15489334}.							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTTGTCATGGTCTCCAG	0.587													.|||	10	0.00199681	0.0076	0	5008	,	,		28860	0		0	False		,,,				2504	0					.											0													51	57	55					18																	14542888		692	1591	2283	SO:0001819	synonymous_variant	388468			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.258T>C	18.37:g.14542888A>G				Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																				0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		G	14542888	A	G	14542888	2	3	57	1	0	0	0	0	0	0	0	1	12262	214	8	4		4	POTEC	18	14542888	Silent	SNP	A	TCGA-KO-8407-01A-11D-2310-10		14542888	63534360	72	5671											
ASXL3	80816	broad.mit.edu	37	chr18	31325884	31325884	+	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	ccgccgccaccgcctcccccTccccctccacccttggcttt	2	8	5	26	3	0	0	0	0	0	0	3	0	3	0	11	1	0	1	11	1	0	2			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:31325884T>C	ENST00000269197.5	+	12	6072	c.6072T>C	c.(6070-6072)ccT>ccC	p.P2024P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2024	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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						cgcctccccctccccctccac	0.602																																						.											0													10	13	12					18																	31325884		1819	4049	5868	SO:0001819	synonymous_variant	80816			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.6072T>C	18.37:g.31325884T>C			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																				0.602	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			C	31325884	T	C	31325884	2	2	57	1	0	0	0	0	0	0	0	1	1068	1538	54	2		2	ASXL3	18	31325884	Silent	SNP	T	TCGA-KO-8407-01A-11D-2310-10	16782996	31325884	46751364	73	5672											
KIAA1632	57724	broad.mit.edu	37	chr18	43534970	43534970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagttcttgggggttTctactttagttccaacattg	7	17	10	7	0	2	1	0	1	2	0	3	1	3	1	1	2	2	3	1	2	4	8			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:43534970T>C	ENST00000282041.5	-	2	432	c.398A>G	c.(397-399)gAa>gGa	p.E133G		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	133					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						CTTGGGGGTTTCTACTTTAGT	0.498																																						.											0													105	100	101					18																	43534970		1883	4105	5988	SO:0001583	missense	57724			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.398A>G	18.37:g.43534970T>C	ENSP00000282041:p.Glu133Gly		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	12.22	1.873783	0.33069	.	.	ENSG00000152223	ENST00000282041	T	0.13307	2.6	5.76	1.96	0.26148	.	1.429990	0.03915	N	0.282546	T	0.10423	0.0255	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.33929	-0.9849	10	0.62326	D	0.03	-0.0288	5.1599	0.15056	0.1319:0.1426:0.0:0.7255	.	133;133	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	G	133	ENSP00000282041:E133G	ENSP00000282041:E133G	E	-	2	0	EPG5	41788968	0.478000	0.25917	0.000000	0.03702	0.044000	0.14063	1.758000	0.38410	0.089000	0.17243	0.460000	0.39030	GAA		0.498	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		C	43534970	T	C	43534970	3	2	57	1	0	0	0	0	1	0	0	0	8249	1783	62	4	7513	4	KIAA1632	18	43534970	Missense_Mutation	SNP	T	TCGA-KO-8407-01A-11D-2310-10	12209086	43534970	34542278	74	5673											
TMX3	54495	ucsc.edu	37	chr18	66365223	66365223	+	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	aatacacggtgtctcttctgCatatgttcaaacatttgttg	10	16	7	8	1	3	0	1	0	2	0	4	0	3	0	0	1	3	3	0	1	4	6			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:66365223C>T	ENST00000299608.2	-	7	754	c.438G>A	c.(436-438)atG>atA	p.M146I	TMX3_ENST00000562706.1_Missense_Mutation_p.M146I|TMX3_ENST00000443099.2_Missense_Mutation_p.M119I	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	146					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GTCTCTTCTGCATATGTTCAA	0.313																																						.											0													100	91	94					18																	66365223		2203	4300	6503	SO:0001583	missense	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.438G>A	18.37:g.66365223C>T	ENSP00000299608:p.Met146Ile		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	9.922	1.212389	0.22289	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T	0.10668	3.13;2.85	5.33	-0.718	0.11205	.	0.159551	0.56097	D	0.000032	T	0.03739	0.0106	N	0.12746	0.255	0.32577	N	0.529024	B;B;B	0.12013	0.005;0.004;0.001	B;B;B	0.13407	0.009;0.007;0.001	T	0.37150	-0.9718	10	0.14656	T	0.56	.	1.661	0.02792	0.1319:0.3586:0.1288:0.3806	.	119;146;146	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	I	146;146;119	ENSP00000299608:M146I;ENSP00000402605:M119I	ENSP00000299608:M146I	M	-	3	0	TMX3	64516203	0.247000	0.23920	0.758000	0.31321	0.957000	0.61999	0.199000	0.17237	-0.385000	0.07833	-0.140000	0.14226	ATG		0.313	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		T	66365223	C	T	66365223	3	4	57	1	0	0	0	0	1	0	0	0	16265	710	25	4	966	4	TMX3	18	66365223	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	22830253	66365223	11712025	75	5674											
WDR18	57418	mdanderson.org	37	chr19	984554	984554	+	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	tacatcagcgcctgggagctCcagcggaaggtgcggcggtg	7	6	17	11	4	1	0	1	0	0	0	2	2	2	2	2	5	5	1	2	5	2	1	rs4806884	byFrequency	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr19:984554C>G	ENST00000251289.5	+	1	224	c.201C>G	c.(199-201)ctC>ctG	p.L67L	WDR18_ENST00000591997.1_Intron|WDR18_ENST00000587001.2_Silent_p.L67L	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	67					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		CCTGGGAGCTCCAGCGGAAGG	0.711													.|||	1837	0.366813	0.3283	0.4092	5008	,	,		11315	0.2768		0.5567	False		,,,				2504	0.2863					.											0								G		1233,2751		232,769,991	5	7	7		201	-1.1	1	19	dbSNP_111	7	3627,4195		956,1715,1240	no	coding-synonymous	WDR18	NM_024100.3		1188,2484,2231	GG,GC,CC		46.3692,30.9488,41.1655		67/433	984554	4860,6946	1992	3911	5903	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.201C>G	19.37:g.984554C>G			O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																				0.711	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			G	984554	C	G	984554	2	3	57	1	0	0	0	0	0	0	0	1	17275	842	30	5		5	WDR18	19	984554	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10		984554	58144429	76	5675											
COL5A3	50509	mdanderson.org;bcgsc.ca	37	chr19	10078060	10078060	+	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	ctgcaggtccagtgtctccaCgggggcccatggacccctgt	5	8	13	15	1	1	0	0	0	1	0	3	1	2	1	5	4	1	1	5	4	0	0	rs370182126		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr19:10078060C>T	ENST00000264828.3	-	62	4506	c.4421G>A	c.(4420-4422)cGt>cAt	p.R1474H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1474	Collagen-like 6.|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)	p.R1474H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGTGTCTCCACGGGGGCCCAT	0.607																																						.											1	Substitution - Missense(1)	endometrium(1)						C	HIS/ARG	1,4355		0,1,2177	18	17	17		4421	1.8	1	19		17	0,8546		0,0,4273	no	missense	COL5A3	NM_015719.3	29	0,1,6450	TT,TC,CC		0.0,0.023,0.0078	probably-damaging	1474/1746	10078060	1,12901	2178	4273	6451	SO:0001583	missense	50509			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.4421G>A	19.37:g.10078060C>T	ENSP00000264828:p.Arg1474His		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117512	0.20877	2.3E-4	0.0	ENSG00000080573	ENST00000264828	D	0.94280	-3.39	4.06	1.79	0.24919	.	0.246732	0.29814	N	0.011122	D	0.93530	0.7935	M	0.81341	2.54	0.28887	N	0.894099	D	0.58970	0.984	P	0.52710	0.707	D	0.88317	0.2960	10	0.62326	D	0.03	.	5.0036	0.14277	0.0:0.7142:0.0:0.2858	.	1474	P25940	CO5A3_HUMAN	H	1474	ENSP00000264828:R1474H	ENSP00000264828:R1474H	R	-	2	0	COL5A3	9939060	0.000000	0.05858	0.957000	0.39632	0.065000	0.16274	-0.496000	0.06436	0.929000	0.37192	0.508000	0.49915	CGT		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10078060	C	T	10078060	3	4	57	1	0	0	0	0	1	0	0	0	3698	536	19	1	840	1	COL5A3	19	10078060	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10	9093506	10078060	49050923	77	5676											
LILRA1	11024	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr19	55107718	55107718	+	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	acggtggcctcaggagagaaCgtgaccctgctgtgtcagtc	8	8	14	11	2	2	2	2	1	0	1	3	4	2	3	2	3	2	1	2	3	1	0			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr19:55107718C>T	ENST00000251372.3	+	7	1205	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	341	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGGAGAGAACGTGACCCTGC	0.607																																						.											0													81	78	79					19																	55107718		2203	4300	6503	SO:0001819	synonymous_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1023C>T	19.37:g.55107718C>T			O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																				0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		T	55107718	C	T	55107718	2	4	57	1	0	0	0	0	0	0	0	1	8784	535	19	1		1	LILRA1	19	55107718	Silent	SNP	C	TCGA-KO-8407-01A-11D-2310-10	45029658	55107718	4021265	78	5677											
SLC32A1	140679	broad.mit.edu	37	chr20	37356927	37356927	+	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	tgtcgaggtgctggagaagtCgctcttccaggaaggcagcc	8	8	15	10	2	1	1	0	0	1	1	4	4	2	2	2	4	2	3	2	4	2	1			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr20:37356927C>T	ENST00000217420.1	+	2	1486	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	408					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGGAGAAGTCGCTCTTCCAG	0.657																																						.											0													56	57	56					20																	37356927		2203	4300	6503	SO:0001583	missense	140679			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.1223C>T	20.37:g.37356927C>T	ENSP00000217420:p.Ser408Leu		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013250	0.35511	.	.	ENSG00000101438	ENST00000217420	T	0.02121	4.44	4.45	4.45	0.53987	.	0.125962	0.56097	D	0.000035	T	0.01800	0.0057	N	0.16743	0.435	0.58432	D	0.999998	B	0.20459	0.045	B	0.12837	0.008	T	0.51988	-0.8635	10	0.08381	T	0.77	-9.6575	14.9208	0.70835	0.0:1.0:0.0:0.0	.	408	Q9H598	VIAAT_HUMAN	L	408	ENSP00000217420:S408L	ENSP00000217420:S408L	S	+	2	0	SLC32A1	36790341	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.968000	0.70413	2.202000	0.70862	0.563000	0.77884	TCG		0.657	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		T	37356927	C	T	37356927	3	4	57	1	0	0	0	0	1	0	0	0	14565	893	31	1	1229	1	SLC32A1	20	37356927	Missense_Mutation	SNP	C	TCGA-KO-8407-01A-11D-2310-10		37356927	25668593	79	5678											
APP	351	broad.mit.edu	37	chr21	27372385	27372386	+	Frame_Shift_Ins	INS	-	-	C																															tgtcaaagttgttccggttgINSccgccacatccgccgtaaaa																								rs141526793		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr21:27372385_27372386insC	ENST00000346798.3	-	7	1010_1011	c.977_978insG	c.(976-978)ggcfs	p.G326fs	APP_ENST00000440126.3_Frame_Shift_Ins_p.G321fs|APP_ENST00000439274.2_Frame_Shift_Ins_p.G270fs|APP_ENST00000357903.3_Frame_Shift_Ins_p.G326fs|APP_ENST00000448388.2_Intron|APP_ENST00000359726.3_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000358918.3_Frame_Shift_Ins_p.G326fs|APP_ENST00000354192.3_Intron	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	326	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				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)				TGTTCCGGTTGCCGCCACATCC	0.574																																						.											0																																										SO:0001589	frameshift_variant	351			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.978dupG	21.37:g.27372387_27372387dupC	ENSP00000284981:p.Gly326fs		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Frame_Shift_Ins	INS	ENST00000346798.3	37	CCDS13576.1																																																																																				0.574	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		C	27372386	-	C	27372385	7	5	57	1	0	1	1	0	0	0	0	0	815	1306	46	0	1382	0	APP	21	27372385	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10		27372385	20757510	80	5679											
USP16	10600	broad.mit.edu	37	chr21	30409627	30409627	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggaaatattgaacttgAaaataaaaaattagaaaaag	24	10	6	1	0	0	3	0	2	0	1	0	4	0	4	0	1	1	0	0	1	12	6			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr21:30409627A>G	ENST00000334352.4	+	7	710	c.479A>G	c.(478-480)gAa>gGa	p.E160G	USP16_ENST00000399976.2_Missense_Mutation_p.E160G|USP16_ENST00000399975.3_Missense_Mutation_p.E159G|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATTGAACTTGAAAATAAAAAA	0.303																																					Melanoma(92;625 1444 27493 34101 44971)	.											0													46	53	51					21																	30409627		2201	4299	6500	SO:0001583	missense	10600			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"Ubiquitin-specific peptidases"	12614	protein-coding gene	gene with protein product		604735	"ubiquitin specific protease 16"			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.479A>G	21.37:g.30409627A>G	ENSP00000334808:p.Glu160Gly			Missense_Mutation	SNP	ENST00000334352.4	37	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587621	0.46110	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.07021	3.23;3.24;3.24	5.9	5.9	0.94986	.	0.275088	0.41097	D	0.000948	T	0.05868	0.0153	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12013	0.003;0.002;0.005	B;B;B	0.09377	0.003;0.004;0.002	T	0.42068	-0.9473	10	0.32370	T	0.25	.	12.1736	0.54173	0.9318:0.0:0.0682:0.0	.	145;159;160	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	G	159;160;160	ENSP00000382857:E159G;ENSP00000382858:E160G;ENSP00000334808:E160G	ENSP00000334808:E160G	E	+	2	0	USP16	29331498	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.616000	0.46376	2.251000	0.74343	0.528000	0.53228	GAA		0.303	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			G	30409627	A	G	30409627	3	3	57	1	0	0	0	0	1	0	0	0	17044	246	9	4	497	4	USP16	21	30409627	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	3037242	30409627	17720268	81	5680											
KRTAP10-6	386674	mdanderson.org	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-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	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					.											0								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			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			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	57	1	0	0	0	0	1	0	0	0	8513	275	10	2	722	2	KRTAP10-6	21	46011987	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	15602360	46011987	2117908	82	5681											
MTMR3	8897	mdanderson.org	37	chr22	30419455	30419455	+	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	cctccttgcagggacactgaCcgtgttgatcaaacgtggtg	8	10	12	11	2	1	2	1	2	0	0	2	3	2	3	3	2	2	2	3	2	1	2			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr22:30419455C>T	ENST00000401950.2	+	19	3767				MTMR3_ENST00000406629.1_Silent_p.D1108D|MTMR3_ENST00000351488.3_Intron|MTMR3_ENST00000323630.5_Intron|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.D1108D|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3						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)			GGGACACTGACCGTGTTGATC	0.498																																						.											0													217	179	192					22																	30419455		2203	4300	6503	SO:0001627	intron_variant	8897			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.3425+769C>T	22.37:g.30419455C>T			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.498	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		T	30419455	C	T	30419455	1	4	57	0	1	0	0	0	0	0	0	0	9945	506	18	3		3	MTMR3	22	30419455	Intron	SNP	C	TCGA-KO-8407-01A-11D-2310-10		30419455	20885111	83	5682											
SEC14L3	266629	broad.mit.edu	37	chr22	30857663	30857664	+	Frame_Shift_Ins	INS	-	-	C																															acgtacatggacttggggatINSctccccgccatagttaatct																										TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr22:30857663_30857664insC	ENST00000215812.4	-	10	879_880	c.789_790insG	c.(787-792)gagatcfs	p.I264fs	SEC14L3_ENST00000401751.1_Frame_Shift_Ins_p.I205fs|SEC14L3_ENST00000540910.1_Frame_Shift_Ins_p.I187fs|SEC14L3_ENST00000402286.1_Frame_Shift_Ins_p.I187fs|SEC14L3_ENST00000415957.2_Frame_Shift_Ins_p.I205fs|SEC14L3_ENST00000403066.1_Frame_Shift_Ins_p.I205fs|SEC14L3_ENST00000539629.1_Frame_Shift_Ins_p.I205fs	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	264						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GACTTGGGGATCTCCCCGCCAT	0.54																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	.											0																																										SO:0001589	frameshift_variant	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.790dupG	22.37:g.30857664_30857664dupC	ENSP00000215812:p.Ile264fs		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Frame_Shift_Ins	INS	ENST00000215812.4	37	CCDS13877.1																																																																																				0.54	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		C	30857664	-	C	30857663	7	5	57	1	0	1	1	0	0	0	0	0	13983	1435	50	0	424	0	SEC14L3	22	30857663	Frame_Shift_Ins	INS	-	TCGA-KO-8407-01A-11D-2310-10	438208	30857663	20446903	84	5683											
RBX1	9978	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr22	41368482	41368482	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttactttgtctttcaggtAtgggcactaggaaaagactt	11	15	9	6	0	2	1	1	0	1	1	2	2	2	2	0	3	1	2	0	3	5	7			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr22:41368482A>G	ENST00000216225.8	+	5	357	c.317A>G	c.(316-318)tAt>tGt	p.Y106C		NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	106					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						TCTTTCAGGTATGGGCACTAG	0.328																																						.											0													208	194	199					22																	41368482		2202	4300	6502	SO:0001583	missense	9978			AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"RING-type (C3HC4) zinc fingers"	9928	protein-coding gene	gene with protein product	"regulator of cullins 1"	603814	"ring-box 1"			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.317A>G	22.37:g.41368482A>G	ENSP00000216225:p.Tyr106Cys		B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	ENST00000216225.8	37	CCDS14009.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.373090	0.42105	.	.	ENSG00000100387	ENST00000216225	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.28115	0.83	0.80722	D	1	B	0.25235	0.121	B	0.29785	0.107	T	0.44967	-0.9293	9	0.48119	T	0.1	.	13.0206	0.58784	1.0:0.0:0.0:0.0	.	106	P62877	RBX1_HUMAN	C	106	.	ENSP00000216225:Y106C	Y	+	2	0	RBX1	39698428	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.464000	0.60134	2.326000	0.78906	0.533000	0.62120	TAT		0.328	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		G	41368482	A	G	41368482	3	3	57	1	0	0	0	0	1	0	0	0	13165	449	16	4	335	4	RBX1	22	41368482	Missense_Mutation	SNP	A	TCGA-KO-8407-01A-11D-2310-10	10510819	41368482	9936084	85	5684											
CLCN5	1184	bcgsc.ca	37	chrX	49834549	49834549	+	5'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagaggacaagtcgtacaAtggtggaggaataggttctt	13	10	13	5	1	1	1	0	0	1	1	2	4	1	4	0	5	2	2	0	5	6	5			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrX:49834549A>G	ENST00000307367.2	+	0	260				CLCN5_ENST00000376108.3_5'UTR|CLCN5_ENST00000376088.3_Missense_Mutation_p.N60S|CLCN5_ENST00000376091.3_Missense_Mutation_p.N60S			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AAGTCGTACAATGGTGGAGGA	0.393																																						.											0													88	69	76					X																	49834549		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.-32A>G	X.37:g.49834549A>G			A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556264	0.45487	.	.	ENSG00000171365	ENST00000376088;ENST00000376091	D;D	0.89617	-2.54;-2.54	5.7	5.7	0.88788	.	.	.	.	.	D	0.82416	0.5032	.	.	.	0.80722	D	1	B	0.28291	0.206	B	0.25291	0.059	T	0.78507	-0.2177	8	0.19590	T	0.45	-23.9209	13.8096	0.63253	1.0:0.0:0.0:0.0	.	60	P51795-2	.	S	60	ENSP00000365256:N60S;ENSP00000365259:N60S	ENSP00000365256:N60S	N	+	2	0	CLCN5	49721289	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.184000	0.72008	1.906000	0.55180	0.412000	0.27726	AAT		0.393	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			G	49834549	A	G	49834549	1	3	57	0	1	0	0	0	0	0	0	0	3466	101	4	4		4	CLCN5	23	49834549	5'UTR	SNP	A	TCGA-KO-8407-01A-11D-2310-10		49834549	105436011	86	5685											
NHSL2	340527	broad.mit.edu	37	chrX	71360546	71360546	+	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	ccaagtgtcccgccaccggcGatgacctgcaatcacttggt	8	8	10	15	3	1	1	1	1	0	0	2	2	2	1	5	2	1	1	5	2	2	1			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrX:71360546G>A	ENST00000373677.1	+	2	3312	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	NHSL2_ENST00000540800.1_Missense_Mutation_p.D1050N|NHSL2_ENST00000510661.1_Missense_Mutation_p.D819N|NHSL2_ENST00000535692.1_Missense_Mutation_p.D684N			Q5HYW2	NHSL2_HUMAN	NHS-like 2	684										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CGCCACCGGCGATGACCTGCA	0.552																																						.											0													54	49	51					X																	71360546		2203	4300	6503	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2050G>A	X.37:g.71360546G>A	ENSP00000362781:p.Asp684Asn		B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	G	13.38	2.218648	0.39201	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.50548	1.51;0.79;0.74;0.79	6.08	2.02	0.26589	.	0.624103	0.15395	N	0.264638	T	0.37705	0.1013	L	0.51422	1.61	0.09310	N	1	B;B;B	0.18741	0.017;0.03;0.007	B;B;B	0.09377	0.004;0.004;0.003	T	0.22906	-1.0203	10	0.30078	T	0.28	0.5596	7.9991	0.30286	0.4905:0.0:0.5095:0.0	.	1050;819;684	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	N	1050;684;819;684	ENSP00000444617:D1050N;ENSP00000362781:D684N;ENSP00000424079:D819N;ENSP00000444914:D684N	ENSP00000362781:D684N	D	+	1	0	NHSL2	71277271	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.211000	0.17474	-0.054000	0.13266	0.600000	0.82982	GAT		0.552	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		A	71360546	G	A	71360546	3	1	57	1	0	0	0	0	1	0	0	0	10412	1058	37	1	3170	1	NHSL2	23	71360546	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	21525997	71360546	83910014	87	5686											
TMEM31	203562	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	102967204	102967204	+	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	gaaatgaggttaacagaaaaGagtgagggagaacaacaact	20	5	12	4	0	0	5	0	2	0	3	0	7	0	5	0	2	4	1	0	2	7	1			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrX:102967204G>C	ENST00000319560.6	+	2	209	c.18G>C	c.(16-18)aaG>aaC	p.K6N	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	6						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TAACAGAAAAGAGTGAGGGAG	0.413																																						.											0													137	107	117					X																	102967204		2203	4300	6503	SO:0001583	missense	203562			BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.18G>C	X.37:g.102967204G>C	ENSP00000316940:p.Lys6Asn		Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	g	6.426	0.446660	0.12223	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.13	1.22	0.21188	.	0.454099	0.16291	N	0.220916	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.27262	0.078	T	0.20840	-1.0263	9	0.87932	D	0	0.0061	6.6205	0.22800	0.0:0.3729:0.4321:0.195	.	6	Q5JXX7	TMM31_HUMAN	N	6	.	ENSP00000316940:K6N	K	+	3	2	TMEM31	102853860	0.013000	0.17824	0.065000	0.19835	0.467000	0.32768	0.461000	0.21940	0.128000	0.18479	0.525000	0.51046	AAG		0.413	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		C	102967204	G	C	102967204	3	2	57	1	0	0	0	0	1	0	0	0	16152	933	33	5	20	5	TMEM31	23	102967204	Missense_Mutation	SNP	G	TCGA-KO-8407-01A-11D-2310-10	31606658	102967204	52303356	88	5687											
SKI	6497	bcgsc.ca	37	chr1	2235304	2235304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctacaagagctttgagAcagccgtggcgcccaacgtg	10	7	11	13	3	0	2	0	1	0	2	1	3	1	2	3	1	4	1	3	1	3	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:2235304A>G	ENST00000378536.4	+	4	1309	c.1237A>G	c.(1237-1239)Aca>Gca	p.T413A		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	413					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)		GAGCTTTGAGACAGCCGTGGC	0.692																																					Ovarian(177;144 1678 13697 20086 27838 40755)	.											0													13	17	16					1																	2235304		2148	4218	6366	SO:0001583	missense	6497			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.1237A>G	1.37:g.2235304A>G	ENSP00000367797:p.Thr413Ala		Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366241	0.41902	.	.	ENSG00000157933	ENST00000378536	D	0.95588	-3.75	4.61	3.48	0.39840	.	0.353173	0.31041	N	0.008379	D	0.90515	0.7028	L	0.34521	1.04	0.21740	N	0.999561	B	0.06786	0.001	B	0.04013	0.001	T	0.80322	-0.1431	10	0.33141	T	0.24	-4.0181	9.436	0.38639	0.9147:0.0:0.0853:0.0	.	413	P12755	SKI_HUMAN	A	413	ENSP00000367797:T413A	ENSP00000367797:T413A	T	+	1	0	SKI	2225164	1.000000	0.71417	0.944000	0.38274	0.918000	0.54935	4.734000	0.62043	0.728000	0.32382	0.459000	0.35465	ACA		0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		G	2235304	A	G	2235304	3	3	58	1	0	0	0	0	1	0	0	0	14357	275	10	2	1251	2	SKI	1	2235304	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10		2235304	247015317	1	5688											
PRDM16	63976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	3328864	3328864	+	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	gccatcgcatccattgccgaGaagtactttggccccggctt	7	10	10	14	3	0	1	0	0	0	1	2	2	1	1	5	2	2	3	5	2	2	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:3328864G>C	ENST00000270722.5	+	9	2152	c.2103G>C	c.(2101-2103)gaG>gaC	p.E701D	PRDM16_ENST00000378398.3_Missense_Mutation_p.E702D|PRDM16_ENST00000378391.2_Missense_Mutation_p.E701D|PRDM16_ENST00000514189.1_Missense_Mutation_p.E702D|PRDM16_ENST00000442529.2_Missense_Mutation_p.E701D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.E702D|PRDM16_ENST00000441472.2_Missense_Mutation_p.E701D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	701	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)		CCATTGCCGAGAAGTACTTTG	0.627			T	EVI1	"MDS, AML"																																	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													63	77	73					1																	3328864		2059	4188	6247	SO:0001583	missense	63976			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.2103G>C	1.37:g.3328864G>C	ENSP00000270722:p.Glu701Asp		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344267	0.61073	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.08896	3.06;3.07;3.08;3.07;3.06;3.1;3.08;3.04;3.04	4.94	4.02	0.46733	.	0.000000	0.51477	U	0.000094	T	0.25121	0.0610	M	0.65975	2.015	0.48341	D	0.999638	D;D;D;D	0.76494	0.997;0.999;0.999;0.998	D;D;D;D	0.79784	0.978;0.993;0.974;0.984	T	0.00875	-1.1531	10	0.40728	T	0.16	.	13.4634	0.61239	0.0765:0.0:0.9235:0.0	.	701;701;701;701	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	D	702;702;701;701;701;702;701;517;517;510	ENSP00000426975:E702D;ENSP00000367651:E702D;ENSP00000407968:E701D;ENSP00000405253:E701D;ENSP00000367643:E701D;ENSP00000421400:E702D;ENSP00000270722:E701D;ENSP00000422504:E517D;ENSP00000425796:E510D	ENSP00000270722:E701D	E	+	3	2	PRDM16	3318724	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	2.613000	0.46351	1.214000	0.43395	0.590000	0.80494	GAG		0.627	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		C	3328864	G	C	3328864	3	2	58	1	0	0	0	0	1	0	0	0	12457	933	33	5	2137	5	PRDM16	1	3328864	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	1093560	3328864	245921757	2	5689											
UBXN11	91544	mdanderson.org	37	chr1	26608852	26608852	+	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	gggaccgggaccgggactggGgccgggaccgggaccgggac	6	1	22	12	5	0	0	0	0	0	0	0	6	0	6	5	8	0	0	5	8	0	0	rs61775089		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:26608852G>A	ENST00000374222.1	-	16	1965	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	UBXN11_ENST00000357089.4_Missense_Mutation_p.P468S|UBXN11_ENST00000314675.7_Missense_Mutation_p.P381S|UBXN11_ENST00000374217.2_Missense_Mutation_p.P468S|UBXN11_ENST00000374223.1_Missense_Mutation_p.P258S|UBXN11_ENST00000374221.3_Missense_Mutation_p.P501S			Q5T124	UBX11_HUMAN	UBX domain protein 11	501	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|P -> S (in dbSNP:rs17838088).			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ccgggactggggccgggaccg	0.731																																						.											1	Deletion - In frame(1)	ovary(1)											20	23	22					1																	26608852		1699	3915	5614	SO:0001583	missense	91544			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.1501C>T	1.37:g.26608852G>A	ENSP00000363339:p.Pro501Ser		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	600	0.27472527472527475	141	0.2865853658536585	101	0.27900552486187846	95	0.1660839160839161	263	0.3469656992084433	-	8.946	0.967087	0.18659	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.26957	1.8;1.7;2.08;2.12;2.12;2.08	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	4.000000000004E-6	.	.	.	.	.	.	T	0.44003	-0.9356	4	0.02654	T	1	.	.	.	.	rs61775089	468;463;381;501	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	S	381;258;468;501;501;468	ENSP00000324721:P381S;ENSP00000363340:P258S;ENSP00000349601:P468S;ENSP00000363338:P501S;ENSP00000363339:P501S;ENSP00000363334:P468S	ENSP00000324721:P381S	P	-	1	0	UBXN11	26481439	0.000000	0.05858	0.166000	0.22797	0.173000	0.22820	-0.536000	0.06135	0.000000	0.14550	0.000000	0.15137	CCC		0.731	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608852	G	A	26608852	3	1	58	1	0	0	0	0	1	0	0	0	16910	1232	43	3	65	3	UBXN11	1	26608852	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	23279988	26608852	222641769	3	5690											
PLEKHA6	22874	broad.mit.edu	37	chr1	204226633	204226633	+	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	ggagccctggctgggtgagcGgggcacagagtgggagcggg	6	4	23	8	2	0	2	0	1	0	1	0	4	0	4	1	7	3	2	1	7	0	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:204226633G>A	ENST00000272203.3	-	9	1688	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R478C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	458										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)			CTGGGTGAGCGGGGCACAGAG	0.667																																						.											0													20	19	19					1																	204226633		2186	4294	6480	SO:0001583	missense	22874			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.1372C>T	1.37:g.204226633G>A	ENSP00000272203:p.Arg458Cys		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307563	0.81247	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11495	2.77;3.23	5.4	5.4	0.78164	.	0.051985	0.85682	D	0.000000	T	0.32133	0.0819	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.00675	-1.1615	10	0.59425	D	0.04	-26.4644	19.1454	0.93463	0.0:0.0:1.0:0.0	.	478;458	Q5VTI5;Q9Y2H5	.;PKHA6_HUMAN	C	458;478	ENSP00000272203:R458C;ENSP00000402046:R478C	ENSP00000272203:R458C	R	-	1	0	PLEKHA6	202493256	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.369000	0.73109	2.688000	0.91661	0.655000	0.94253	CGC		0.667	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		A	204226633	G	A	204226633	3	1	58	1	0	0	0	0	1	0	0	0	12060	1116	39	1	1830	1	PLEKHA6	1	204226633	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	177617781	204226633	45023988	4	5691											
PROX1	5629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr1	214171243	214171243	+	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	gaccagtctgcctccggcccTgccgctggcggccaccacca	5	5	11	20	3	1	0	0	0	1	0	2	1	2	0	8	3	2	1	8	3	0	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:214171243T>A	ENST00000366958.4	+	2	1973	c.1365T>A	c.(1363-1365)ccT>ccA	p.P455P	PROX1_ENST00000435016.1_Silent_p.P455P|PROX1_ENST00000498508.2_Silent_p.P455P|PROX1_ENST00000261454.4_Silent_p.P455P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	455				PAA -> LV (in Ref. 1; AAC50656). {ECO:0000305}.	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)		CCTCCGGCCCTGCCGCTGGCG	0.637																																						.											0													61	74	69					1																	214171243		2203	4300	6503	SO:0001819	synonymous_variant	5629			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.1365T>A	1.37:g.214171243T>A			A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.637	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		A	214171243	T	A	214171243	2	1	58	1	0	0	0	0	0	0	0	1	12560	1567	55	5		5	PROX1	1	214171243	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10	9944610	214171243	35079378	5	5692											
SH2D6	284948	broad.mit.edu	37	chr2	85662144	85662144	+	Frame_Shift_Del	DEL	A	A	-																															agccacctttgcccacccccAccccaccccaccccacccca																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:85662144delA	ENST00000340326.2	+	1	227	c.66delA	c.(64-66)ccafs	p.P23fs	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_Intron|SH2D6_ENST00000389938.2_Intron	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	23	Pro-rich.									central_nervous_system(1)|lung(2)	3						Gcccacccccaccccacccca	0.637																																						.											0													2	3	3					2																	85662144		1587	3412	4999	SO:0001589	frameshift_variant	284948			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.66delA	2.37:g.85662144delA	ENSP00000341867:p.Pro23fs		A6ND14|Q6R306	Frame_Shift_Del	DEL	ENST00000340326.2	37	CCDS1976.1																																																																																				0.637	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		-	85662144	A	-	85662144	7	5	58	1	0	1	0	1	0	0	0	0	14238	146	6	0	68	0	SH2D6	2	85662144	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10		85662144	157537229	6	5693											
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-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	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					.											0													36	56	50					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857				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			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	58	1	0	0	0	0	0	0	0	1	13286	1606	56	2		2	RGPD2	2	88125234	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10	2463090	88125234	155074139	7	5694											
TEKT4	150483	mdanderson.org	37	chr2	95537622	95537622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgactgcaggacacgcacAgctggaagtcggagctgcag	11	4	15	11	3	0	0	0	0	0	0	1	4	0	3	0	3	5	5	0	3	1	0	rs11164112	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:95537622A>G	ENST00000295201.4	+	1	435	c.298A>G	c.(298-300)Agc>Ggc	p.S100G	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.S100G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	100			S -> G (in dbSNP:rs11164112).		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						GGACACGCACAGCTGGAAGTC	0.687													.|||	2141	0.427516	0.5166	0.4467	5008	,	,		17318	0.4881		0.3419	False		,,,				2504	0.319					.											0								G	GLY/SER	2150,2232		542,1066,583	15	14	15		298	-0.6	0.3	2	dbSNP_120	15	3138,5444		576,1986,1729	no	missense	TEKT4	NM_144705.2	56	1118,3052,2312	GG,GA,AA		36.5649,49.0644,40.7899	benign	100/436	95537622	5288,7676	2191	4291	6482	SO:0001583	missense	150483			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.298A>G	2.37:g.95537622A>G	ENSP00000295201:p.Ser100Gly			Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	891	0.40796703296703296	246	0.5	139	0.3839779005524862	261	0.4562937062937063	245	0.3232189973614776	.	0.056	-1.235674	0.01505	0.490644	0.365649	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02579	4.24;4.24	1.97	-0.615	0.11587	.	0.633849	0.15549	N	0.256532	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	9	0.27082	T	0.32	-5.0599	3.6684	0.08265	0.1555:0.0:0.2897:0.5547	rs11164112	100	Q8WW24	TEKT4_HUMAN	G	100	ENSP00000295201:S100G;ENSP00000407596:S100G	ENSP00000295201:S100G	S	+	1	0	TEKT4	94901349	0.608000	0.26966	0.328000	0.25416	0.040000	0.13550	0.388000	0.20735	-0.228000	0.09869	-1.144000	0.01866	AGC		0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		G	95537622	A	G	95537622	3	3	58	1	0	0	0	0	1	0	0	0	15752	188	7	2	300	2	TEKT4	2	95537622	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	7412388	95537622	147661751	8	5695											
ZAK	51776	broad.mit.edu	37	chr2	174074493	174074493	+	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	agcaaatcatttcaatcctgGagtccatgtcaaatgacacg	14	10	7	10	1	3	1	3	1	0	0	5	2	5	2	2	1	1	1	2	1	3	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:174074493G>A	ENST00000375213.3	+	10	859	c.781G>A	c.(781-783)Gag>Aag	p.E261K	MLTK_ENST00000338983.3_Missense_Mutation_p.E261K|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.E261K|MLTK_ENST00000409176.2_Missense_Mutation_p.E261K|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.E160K	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)										TTCAATCCTGGAGTCCATGTC	0.453																																						.											0													113	102	106					2																	174074493		2203	4300	6503	SO:0001583	missense	0																														ENST00000375213.3:c.781G>A	2.37:g.174074493G>A	ENSP00000364361:p.Glu261Lys		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439907	0.96168	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	T;T;T;T;T	0.80566	-0.94;-0.99;-0.94;-1.39;-0.99	5.97	5.97	0.96955	Protein kinase, catalytic domain (1);	0.043215	0.85682	D	0.000000	T	0.80232	0.4585	L	0.31926	0.97	0.80722	D	1	P;P;P;P;P	0.49559	0.877;0.925;0.9;0.877;0.787	B;P;B;B;B	0.49597	0.411;0.616;0.425;0.411;0.359	T	0.76561	-0.2914	10	0.29301	T	0.29	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	261;261;261;261;261	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;.;MLTK_HUMAN;.;.	K	261;261;261;160;261	ENSP00000439414:E261K;ENSP00000387259:E261K;ENSP00000340257:E261K;ENSP00000399787:E160K;ENSP00000364361:E261K	ENSP00000340257:E261K	E	+	1	0	AC013461.1	173782739	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.827000	0.86722	2.835000	0.97688	0.591000	0.81541	GAG		0.453	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			A	174074493	G	A	174074493	3	1	58	1	0	0	0	0	1	0	0	0	17509	1175	41	3	815	3	ZAK	2	174074493	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	78536871	174074493	69124880	9	5696											
ALS2CL	259173	broad.mit.edu	37	chr3	46728540	46728541	+	Frame_Shift_Ins	INS	-	-	G																															cacgtgatgggcgagtggctINSggtggagggcctggcccagc																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:46728540_46728541insG	ENST00000318962.4	-	5	549_550	c.466_467insC	c.(466-468)cagfs	p.Q156fs	ALS2CL_ENST00000415953.1_Frame_Shift_Ins_p.Q156fs	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	156					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)		GGCGAGTGGCTGGTGGAGGGCC	0.678																																						.											0																																										SO:0001589	frameshift_variant	259173			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.467dupC	3.37:g.46728542_46728542dupG	ENSP00000313670:p.Gln156fs		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Frame_Shift_Ins	INS	ENST00000318962.4	37	CCDS2743.1																																																																																				0.678	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		G	46728541	-	G	46728540	7	5	58	1	0	1	1	0	0	0	0	0	551	1580	55	0	2482	0	ALS2CL	3	46728540	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10		46728540	151293890	10	5697											
CELSR3	1951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	48694702	48694702	+	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	cacatgttctcaaggcgcacGgtcaggctgttggccagcaa	9	8	12	12	2	2	0	2	0	1	0	3	0	2	0	1	4	1	5	1	4	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:48694702G>A	ENST00000164024.4	-	2	4108	c.3828C>T	c.(3826-3828)acC>acT	p.T1276T	CELSR3_ENST00000544264.1_Silent_p.T1276T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1276					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAGGCGCACGGTCAGGCTGT	0.682																																						.											0													34	30	31					3																	48694702		2201	4299	6500	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3828C>T	3.37:g.48694702G>A			O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48694702	G	A	48694702	2	1	58	1	0	0	0	0	0	0	0	1	3223	1103	39	1		1	CELSR3	3	48694702	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	1966162	48694702	149327728	11	5698											
WDR6	11180	broad.mit.edu	37	chr3	49049218	49049218	+	Frame_Shift_Del	DEL	T	T	-																															ccttgacttggaggccatggTggctgtgtttggaagcaagg																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:49049218delT	ENST00000608424.1	+	2	290	c.251delT	c.(250-252)gtgfs	p.V84fs	WDR6_ENST00000395474.3_Frame_Shift_Del_p.V114fs|WDR6_ENST00000448293.1_Frame_Shift_Del_p.V33fs|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	84					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)		GAGGCCATGGTGGCTGTGTTT	0.552																																						.											0													165	166	166					3																	49049218		2203	4300	6503	SO:0001589	frameshift_variant	11180			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.251delT	3.37:g.49049218delT	ENSP00000477389:p.Val84fs		B4DHK2|Q3MIT1|Q9UF63	Frame_Shift_Del	DEL	ENST00000608424.1	37																																																																																					0.552	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			-	49049218	T	-	49049218	7	5	58	1	0	1	0	1	0	0	0	0	17307	1696	59	0	347	0	WDR6	3	49049218	Frame_Shift_Del	DEL	T	TCGA-KO-8408-01A-11D-2310-10	354516	49049218	148973212	12	5699											
CBLB	868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	105464866	105464866	+	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	ctaagaaattccaattccgcAaaatagagccccaaggctaa	17	7	6	11	1	0	2	0	0	0	2	2	2	2	2	4	1	1	2	4	1	8	5			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:105464866A>C	ENST00000264122.4	-	6	1061	c.740T>G	c.(739-741)tTg>tGg	p.L247W	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.L247W|CBLB_ENST00000405772.1_Missense_Mutation_p.L247W|CBLB_ENST00000394027.3_Missense_Mutation_p.L269W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	247	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCAATTCCGCAAAATAGAGCC	0.323			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	.		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													76	81	79					3																	105464866		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.740T>G	3.37:g.105464866A>C	ENSP00000264122:p.Leu247Trp		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524949	0.85600	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.92249	-2.9;-2.91;-2.98;-3.0	5.89	5.89	0.94794	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.146062	0.45361	D	0.000364	D	0.96540	0.8871	M	0.86805	2.84	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	0.97148	0.9829	10	0.87932	D	0	-10.2901	16.2912	0.82752	1.0:0.0:0.0:0.0	.	269;247;247	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	247;269;247;247	ENSP00000264122:L247W;ENSP00000377595:L269W;ENSP00000384816:L247W;ENSP00000384938:L247W	ENSP00000264122:L247W	L	-	2	0	CBLB	106947556	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	9.326000	0.96389	2.251000	0.74343	0.482000	0.46254	TTG		0.323	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		C	105464866	A	C	105464866	3	2	58	1	0	0	0	0	1	0	0	0	2701	131	5	5	2264	5	CBLB	3	105464866	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	56415648	105464866	92557564	13	5700											
KIAA2018	205717	broad.mit.edu	37	chr3	113378994	113378995	+	Frame_Shift_Ins	INS	-	-	G																															ctgagatttaacttgtggctINSgggcaattagtggctgcata																								rs377114570		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:113378994_113378995insG	ENST00000478658.1	-	5	1551_1552	c.1534_1535insC	c.(1534-1536)cagfs	p.Q512fs	KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.Q512fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	512						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						AACTTGTGGCTGGGCAATTAGT	0.441																																						.											0																																										SO:0001589	frameshift_variant	205717			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.1535dupC	3.37:g.113378997_113378997dupG	ENSP00000420721:p.Gln512fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	ENST00000478658.1	37	CCDS43133.1																																																																																				0.441	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		G	113378995	-	G	113378994	7	5	58	1	0	1	1	0	0	0	0	0	8268	1580	55	0	5206	0	KIAA2018	3	113378994	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	7914128	113378994	84643436	14	5701											
SEC22A	26984	broad.mit.edu	37	chr3	122990419	122990419	+	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	cggaatgtcaaatcttttttGacttttggcttaatctgtct	8	19	7	7	1	4	1	1	1	3	0	4	2	4	2	0	2	0	1	0	2	3	6	rs190644797		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:122990419G>T	ENST00000309934.4	+	6	1670	c.774G>T	c.(772-774)ttG>ttT	p.L258F	SEC22A_ENST00000492595.1_Missense_Mutation_p.L258F|SEC22A_ENST00000481965.2_Nonstop_Mutation_p.*100L	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	258					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		AATCTTTTTTGACTTTTGGCT	0.378																																						.											0													90	94	93					3																	122990419		2203	4300	6503	SO:0001583	missense	26984			AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.774G>T	3.37:g.122990419G>T	ENSP00000310521:p.Leu258Phe		B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	CCDS3021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.674964|4.674964	0.88445|0.88445	.|.	.|.	ENSG00000121542|ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000309934|ENST00000481965	T;T;T|.	0.20200|.	2.09;2.1;2.09|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78298|.	0.4261|.	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.78314|.	0.991|.	T|.	0.76000|.	-0.3119|.	10|.	0.62326|.	D|.	0.03|.	0.7297|0.7297	20.3431|20.3431	0.98773|0.98773	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	258|.	Q96IW7|.	SC22A_HUMAN|.	F|L	258|100	ENSP00000417972:L258F;ENSP00000420343:L258F;ENSP00000310521:L258F|.	ENSP00000310521:L258F|.	L|X	+|+	3|2	2|2	SEC22A|SEC22A	124473109|124473109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.605000|7.605000	0.82844|0.82844	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	TTG|TGA		0.378	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		T	122990419	G	T	122990419	3	4	58	1	0	0	0	0	1	0	0	0	13988	1281	45	5	796	5	SEC22A	3	122990419	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	9611425	122990419	75032011	15	5702											
C3orf58	205428	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	143704589	143704589	+	Missense_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	ttgcactctacctcctggacGtcagctttgacaattttgca	8	14	7	12	1	2	1	1	1	1	0	3	2	3	2	2	1	4	3	2	1	2	5			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:143704589G>T	ENST00000315691.3	+	2	1397	c.862G>T	c.(862-864)Gtc>Ttc	p.V288F	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.V50F|C3orf58_ENST00000495414.1_Missense_Mutation_p.V79F	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	288					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						CCTCCTGGACGTCAGCTTTGA	0.408																																						.											0													165	149	155					3																	143704589		2203	4300	6503	SO:0001583	missense	205428			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.862G>T	3.37:g.143704589G>T	ENSP00000320081:p.Val288Phe		B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104468	0.77096	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.37058	1.22	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.54323	1.7	0.80722	D	1	P;D	0.71674	0.916;0.998	P;D	0.77004	0.535;0.989	T	0.60616	-0.7228	10	0.87932	D	0	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	79;288	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	F	288;79;94;50	ENSP00000320081:V288F	ENSP00000320081:V288F	V	+	1	0	C3orf58	145187279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GTC		0.408	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		T	143704589	G	T	143704589	3	4	58	1	0	0	0	0	1	0	0	0	2236	1145	40	5	902	5	C3orf58	3	143704589	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	20714170	143704589	54317841	16	5703											
GFM1	85476	broad.mit.edu	37	chr3	158362472	158362473	+	Frame_Shift_Ins	INS	-	-	C																															ggctctggggcgcggaagggINScccccgcctccctaggctgg																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:158362472_158362473insC	ENST00000486715.1	+	1	406_407	c.49_50insC	c.(49-51)gccfs	p.A17fs	GFM1_ENST00000478576.1_Frame_Shift_Ins_p.A17fs|GFM1_ENST00000264263.5_Frame_Shift_Ins_p.A17fs	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)			GCGCGGAAGGGCCCCCGCCTCC	0.649											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001589	frameshift_variant	85476			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.54dupC	3.37:g.158362477_158362477dupC	ENSP00000419038:p.Ala17fs	1793		Frame_Shift_Ins	INS	ENST00000486715.1	37	CCDS33885.1																																																																																				0.649	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		C	158362473	-	C	158362472	7	5	58	1	0	1	1	0	0	0	0	0	6341	1203	42	0	51	0	GFM1	3	158362472	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	14657883	158362472	39659958	17	5704											
CRIPAK	285464	mdanderson.org	37	chr4	1389148	1389148	+	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	ggggtgcccgcctgctcacaTgtgccgatgtggagtgcccg	4	8	16	13	3	1	0	1	0	0	0	1	2	1	1	4	3	4	1	4	3	0	0	rs35123539|rs79888804	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:1389148T>C	ENST00000324803.4	+	1	3809	c.849T>C	c.(847-849)caT>caC	p.H283H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	283					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACATGTGCCGATGT	0.682													c|||	53	0.0105831	0.0113	0.0086	5008	,	,		13167	0.006		0.0159	False		,,,				2504	0.0102					.											0								C		48,4356		1,46,2155	141	138	139		849	-0.2	0	4	dbSNP_131	139	185,8415		4,177,4119	no	coding-synonymous	CRIPAK	NM_175918.3		5,223,6274	CC,CT,TT		2.1512,1.0899,1.7918		283/447	1389148	233,12771	2202	4300	6502	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.849T>C	4.37:g.1389148T>C			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1389148	T	C	1389148	2	2	58	1	0	0	0	0	0	0	0	1	3877	1461	51	4		4	CRIPAK	4	1389148	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10		1389148	189765128	18	5705											
FBXL5	26234	broad.mit.edu	37	chr4	15627587	15627587	+	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	ccgaagactctggcagcaacCaagccaagaccaactataat	16	5	7	13	1	1	2	0	0	1	2	1	3	1	2	4	1	4	2	4	1	7	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:15627587C>A	ENST00000341285.3	-	9	1262	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	FBXL5_ENST00000412094.2_Missense_Mutation_p.G363C|FBXL5_ENST00000382358.4_Missense_Mutation_p.G254C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	380					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TGGCAGCAACCAAGCCAAGAC	0.373																																						.											0													23	24	23					4																	15627587		2194	4275	6469	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1138G>T	4.37:g.15627587C>A	ENSP00000344866:p.Gly380Cys		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.484659|4.484659	0.84854|0.84854	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.35421|.	1.34;1.34;1.31|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.70691|0.70691	-0.4802|-0.4802	10|5	0.87932|.	D|.	0|.	-19.976|-19.976	20.3116|20.3116	0.98642|0.98642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	363;380|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	C|L	380;363;254|300	ENSP00000344866:G380C;ENSP00000408679:G363C;ENSP00000371795:G254C|.	ENSP00000344866:G380C|.	G|W	-|-	1|2	0|0	FBXL5|FBXL5	15236685|15236685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.103000|7.103000	0.77014|0.77014	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.373	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			A	15627587	C	A	15627587	3	1	58	1	0	0	0	0	1	0	0	0	5722	594	21	5	949	5	FBXL5	4	15627587	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	14238439	15627587	175526689	19	5706											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	79301068	79301068	+	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	caagaaatggaaaagaggttCagctggacaaggctggccgt	14	6	14	7	1	1	2	1	0	0	2	1	4	1	4	1	5	1	3	1	5	5	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:79301068C>T	ENST00000325942.6	+	27	3921	c.3481C>T	c.(3481-3483)Cag>Tag	p.Q1161*	FRAS1_ENST00000264895.6_Nonsense_Mutation_p.Q1161*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1161					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						AAAAGAGGTTCAGCTGGACAA	0.473																																						.											0													99	102	101					4																	79301068		1926	4122	6048	SO:0001587	stop_gained	80144			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.3481C>T	4.37:g.79301068C>T	ENSP00000326330:p.Gln1161*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	43	9.941586	0.99300	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	.	.	.	5.53	5.53	0.82687	.	0.466636	0.22014	N	0.065839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4531	0.94876	0.0:1.0:0.0:0.0	.	.	.	.	X	1161	.	ENSP00000264895:Q1161X	Q	+	1	0	FRAS1	79520092	0.952000	0.32445	0.958000	0.39756	0.124000	0.20399	4.549000	0.60726	2.600000	0.87896	0.591000	0.81541	CAG		0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79301068	C	T	79301068	4	4	58	1	0	0	0	0	0	1	0	0	6042	827	29	4	3587	4	FRAS1	4	79301068	Nonsense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	63673481	79301068	111853208	20	5707											
AGPAT9	84803	broad.mit.edu;mdanderson.org	37	chr4	84465716	84465716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatacgaattgaaaaaggaAccccaaaggagtcgattctt	17	8	8	8	2	1	1	0	1	1	0	2	5	1	3	2	2	2	0	2	2	7	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:84465716A>G	ENST00000395226.2	+	3	387	c.169A>G	c.(169-171)Acc>Gcc	p.T57A	AGPAT9_ENST00000264409.4_Missense_Mutation_p.T57A	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	57					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)				TGAAAAAGGAACCCCAAAGGA	0.343																																						.											0													196	211	206					4																	84465716		2203	4300	6503	SO:0001583	missense	84803			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.169A>G	4.37:g.84465716A>G	ENSP00000378651:p.Thr57Ala		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	A	1.229	-0.624612	0.03636	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.39787	1.06;1.06	5.13	0.858	0.19030	.	0.696409	0.14235	N	0.332468	T	0.09730	0.0239	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	10	0.09338	T	0.73	-1.4317	3.6614	0.08240	0.287:0.0:0.5317:0.1814	.	57	Q53EU6	GPAT3_HUMAN	A	57	ENSP00000378651:T57A;ENSP00000264409:T57A	ENSP00000264409:T57A	T	+	1	0	AGPAT9	84684740	0.784000	0.28713	0.366000	0.25914	0.925000	0.55904	0.849000	0.27723	0.320000	0.23234	-0.358000	0.07595	ACC		0.343	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		G	84465716	A	G	84465716	3	3	58	1	0	0	0	0	1	0	0	0	392	43	2	2	175	2	AGPAT9	4	84465716	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	5164648	84465716	106688560	21	5708											
DSPP	1834	mdanderson.org	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-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	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																																						.											0													46	57	53					4																	88536953		1537	2773	4310	SO:0001583	missense	1834			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		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	58	1	0	0	0	0	1	0	0	0	4782	1058	37	1	3153	1	DSPP	4	88536953	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	4071237	88536953	102617323	22	5709											
QRFPR	84109	bcgsc.ca	37	chr4	122250742	122250742	+	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	caaactgcagacaaaacattTtttttgaagttttcattcat	14	16	4	7	0	2	2	2	1	0	1	2	2	2	2	0	0	3	2	0	0	4	7			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:122250742T>A	ENST00000394427.2	-	6	1434	c.1023A>T	c.(1021-1023)aaA>aaT	p.K341N	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	341					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						ACAAAACATTTTTTTTGAAGT	0.333																																						.											0													67	67	67					4																	122250742		2202	4300	6502	SO:0001583	missense	84109			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.1023A>T	4.37:g.122250742T>A	ENSP00000377948:p.Lys341Asn			Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661452	0.67700	.	.	ENSG00000186867	ENST00000394427	T	0.38240	1.15	5.32	-3.01	0.05463	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.36672	1.1	0.80722	D	1	D	0.53312	0.959	P	0.49887	0.625	T	0.09707	-1.0662	10	0.54805	T	0.06	.	13.2562	0.60081	0.0:0.3128:0.0:0.6872	.	341	Q96P65	QRFPR_HUMAN	N	341	ENSP00000377948:K341N	ENSP00000377948:K341N	K	-	3	2	QRFPR	122470192	0.968000	0.33430	0.756000	0.31282	0.994000	0.84299	0.120000	0.15647	-0.820000	0.04318	0.402000	0.26972	AAA		0.333	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		A	122250742	T	A	122250742	3	1	58	1	0	0	0	0	1	0	0	0	12878	1838	64	5	276	5	QRFPR	4	122250742	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	33713789	122250742	68903534	23	5710											
FRG1	2483	mdanderson.org	37	chr4	190876210	190876210	+	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	agaatcgccctgaagtctggCtatggaaaatatcttggtat	12	12	10	7	1	2	2	0	1	2	1	3	3	2	3	1	3	0	2	1	3	7	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:190876210C>G	ENST00000226798.4	+	5	558	c.336C>G	c.(334-336)ggC>ggG	p.G112G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	112					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAGTCTGGCTATGGAAAAT	0.358																																						.											0													54	53	53					4																	190876210		2203	4300	6503	SO:0001819	synonymous_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.336C>G	4.37:g.190876210C>G			A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1																																																																																				0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190876210	C	G	190876210	2	3	58	1	0	0	0	0	0	0	0	1	6046	784	28	5		5	FRG1	4	190876210	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	68625468	190876210	278066	24	5711											
RAD17	5884	broad.mit.edu	37	chr5	68695895	68695895	+	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	gtatcgggaaaattgcctggCagcaaaagcactttttcctg	11	11	10	9	1	0	0	0	0	0	0	2	1	1	1	2	2	3	4	2	2	5	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:68695895C>T	ENST00000509734.1	+	16	2303	c.1625C>T	c.(1624-1626)gCa>gTa	p.A542V	RAD17_ENST00000345306.6_Missense_Mutation_p.A531V|RAD17_ENST00000521422.1_Missense_Mutation_p.A366V|RAD17_ENST00000358030.2_Missense_Mutation_p.A366V|RAD17_ENST00000380774.3_Missense_Mutation_p.A542V|RAD17_ENST00000354868.5_Missense_Mutation_p.A531V|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Missense_Mutation_p.A445V|RAD17_ENST00000305138.4_Missense_Mutation_p.A531V|RAD17_ENST00000354312.3_Missense_Mutation_p.A531V|RAD17_ENST00000361732.2_Missense_Mutation_p.A531V			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	542	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AATTGCCTGGCAGCAAAAGCA	0.338								Other conserved DNA damage response genes																														.											0													57	50	52					5																	68695895		2203	4300	6503	SO:0001583	missense	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1625C>T	5.37:g.68695895C>T	ENSP00000426191:p.Ala542Val		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769929	0.49680	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.63	5.63	0.86233	.	0.272817	0.41500	D	0.000873	T	0.25382	0.0617	L	0.55103	1.725	0.48341	D	0.999634	P;B;P	0.35872	0.525;0.128;0.469	B;B;B	0.35727	0.209;0.063;0.132	T	0.02167	-1.1202	10	0.27082	T	0.32	-7.0607	12.6173	0.56584	0.0:0.9201:0.0:0.0799	.	542;445;531	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	V	531;542;531;366;531;531;531;445;366;542;150	ENSP00000355226:A531V;ENSP00000426191:A542V;ENSP00000346938:A531V;ENSP00000427743:A366V;ENSP00000346271:A531V;ENSP00000311227:A531V;ENSP00000303134:A531V;ENSP00000282891:A445V;ENSP00000350725:A366V;ENSP00000370151:A542V;ENSP00000425005:A150V	ENSP00000282891:A445V	A	+	2	0	RAD17	68731651	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	5.412000	0.66392	2.673000	0.90976	0.580000	0.79431	GCA		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		T	68695895	C	T	68695895	3	4	58	1	0	0	0	0	1	0	0	0	12979	710	25	4	1692	4	RAD17	5	68695895	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10		68695895	112219365	25	5712											
SPZ1	84654	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	79616249	79616249	+	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	tgcacagaagtttaacaatcTcttaaaagaaattaaagata	20	11	5	5	0	1	3	0	0	1	3	2	3	1	3	0	0	2	2	0	0	9	5			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:79616249T>G	ENST00000296739.4	+	1	460	c.215T>G	c.(214-216)cTc>cGc	p.L72R		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	72					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)		TTTAACAATCTCTTAAAAGAA	0.368																																						.											0													65	62	63					5																	79616249		1817	4077	5894	SO:0001583	missense	84654				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.215T>G	5.37:g.79616249T>G	ENSP00000369611:p.Leu72Arg		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504338	0.44558	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.59638	0.25;0.77	4.33	3.17	0.36434	.	0.380247	0.18580	N	0.137078	T	0.66557	0.2801	L	0.52011	1.625	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.55068	-0.8198	10	0.87932	D	0	-3.0115	8.3567	0.32335	0.0:0.0952:0.0:0.9048	.	72	Q9BXG8	SPZ1_HUMAN	R	72	ENSP00000426530:L72R;ENSP00000369611:L72R	ENSP00000369611:L72R	L	+	2	0	SPZ1	79652005	0.011000	0.17503	0.007000	0.13788	0.035000	0.12851	1.503000	0.35715	0.996000	0.38943	0.460000	0.39030	CTC		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		G	79616249	T	G	79616249	3	3	58	1	0	0	0	0	1	0	0	0	15126	1551	54	5	217	5	SPZ1	5	79616249	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	10920354	79616249	101299011	26	5713											
C5orf20	140947	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	134782502	134782502	+	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	ggcctcgcagatgcttcactCgaaagattggagttgcagag	10	9	13	9	2	1	3	1	0	0	3	3	5	1	4	1	2	2	4	1	2	1	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:134782502C>T	ENST00000503143.2	-	1	536	c.297G>A	c.(295-297)tcG>tcA	p.S99S	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		99						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGCTTCACTCGAAAGATTGG	0.592																																						.											0													66	70	68					5																	134782502		2203	4300	6503	SO:0001819	synonymous_variant	140947																														ENST00000503143.2:c.297G>A	5.37:g.134782502C>T				Silent	SNP	ENST00000503143.2	37	CCDS4186.1																																																																																				0.592	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			T	134782502	C	T	134782502	2	4	58	1	0	0	0	0	0	0	0	1	2284	871	31	1		1	C5orf20	5	134782502	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	55166253	134782502	46132758	27	5714											
PCDHB16	57717	mdanderson.org	37	chr5	140563708	140563708	+	Missense_Mutation	SNP	G	G	A																															gctggactacgaggccctgcGggagttcgagttccgcgtga																								rs17844651	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563708G>A	ENST00000361016.2	+	1	2729	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs17844651). {ECO:0000269|PubMed:11322959, ECO:0000269|PubMed:15489334}.		calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCCCTGCGGGAGTTCGAG	0.697													A|||	1371	0.273762	0.3132	0.3329	5008	,	,		10877	0.1399		0.3688	False		,,,				2504	0.2188					.											0													44	45	45					5																	140563708		1753	3407	5160	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1574G>A	5.37:g.140563708G>A	ENSP00000354293:p.Arg525Gln		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	949	0.43452380952380953	218	0.44308943089430897	192	0.5303867403314917	183	0.31993006993006995	356	0.46965699208443273	N	0.030	-1.338963	0.01287	.	.	ENSG00000196963	ENST00000361016	T	0.01725	4.67	4.26	-5.79	0.02354	Cadherin (5);Cadherin-like (1);	1.323070	0.06171	N	0.677600	T	0.00012	0.0000	N	0.13327	0.33	0.80722	P	0.0	B	0.06786	0.001	B	0.09377	0.004	T	0.45804	-0.9236	9	0.02654	T	1	.	16.9299	0.86188	0.33:0.0:0.67:0.0	rs61743500	525	Q9NRJ7	PCDBG_HUMAN	Q	525	ENSP00000354293:R525Q	ENSP00000354293:R525Q	R	+	2	0	PCDHB16	140543892	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	-2.446000	0.01010	-1.843000	0.01179	-1.249000	0.01516	CGG		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140563708	G	A	140563708	3	1	58	1	0	0	0	0	1	0	0	0	11541	1116	39	1	1576	1	PCDHB16	5	140563708	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	5781206	140563708	40351552	28	5715	148	2	1	48		5	4	10047	N	T_G_AG_A	1.780722e-05
PCDHB16	57717	mdanderson.org	37	chr5	140563711	140563712	+	Missense_Mutation	DNP	AG	AG	CT																															ggactacgaggccctgcgggAgttcgagttccgcgtgagcg																								rs17844652|rs17844653	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563711_140563712AG>CT	ENST00000361016.2	+	1	2732_2733	c.1577_1578AG>CT	c.(1576-1578)gAG>gCT	p.E526A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			E -> A (in Ref. 1; AAF81914/AAG10030 and 7; AAH36062). {ECO:0000305}.	calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCGGGAGTTCGAGTTCC	0.693																																						.											0																																										SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	Exception_encountered	5.37:g.140563711_140563712delinsCT	ENSP00000354293:p.Glu526Ala		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	DNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.693	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		CT	140563712	AG	CT	140563711	3	2	58	1	0	0	0	0	1	0	0	0	11541	304	11	5	1579	5	PCDHB16	5	140563711	Missense_Mutation	DNP	AG	TCGA-KO-8408-01A-11D-2310-10	3	140563711	40351549	29	5716	148	2	1	48		5	4	10047	N	T_G_AG_A	1.780722e-05
PCDHB16	57717	mdanderson.org	37	chr5	140563754	140563754	+	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	acagaccgcggctccccggcTttgagcagcgaggcgctggt	6	6	15	14	5	0	2	0	1	0	1	1	3	1	2	3	4	2	4	3	4	0	1	rs17844656	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563754T>G	ENST00000361016.2	+	1	2775	c.1620T>G	c.(1618-1620)gcT>gcG	p.A540A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCTTTGAGCAGCG	0.687													T|||	1362	0.271965	0.3366	0.3098	5008	,	,		11233	0.1419		0.3499	False		,,,				2504	0.2117					.											0								T		456,3166		100,256,1455	21	24	23		1620	2.2	0.8	5	dbSNP_123	23	664,5934		147,370,2782	no	coding-synonymous	PCDHB16	NM_020957.1		247,626,4237	GG,GT,TT		10.0637,12.5897,10.9589		540/777	140563754	1120,9100	1811	3299	5110	SO:0001819	synonymous_variant	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1620T>G	5.37:g.140563754T>G			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.687	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140563754	T	G	140563754	2	3	58	1	0	0	0	0	0	0	0	1	11541	1596	56	5		5	PCDHB16	5	140563754	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10	43	140563754	40351506	30	5717			1	48		5	4	10047	N	T_G_AG_A	1.780722e-05
PCDHB10	56126	mdanderson.org	37	chr5	140573719	140573719	+	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	aggctttcgagttccgcgtgGgcgccacagaccgcggctcc	5	7	14	15	6	0	1	0	0	0	1	3	2	2	1	4	3	0	3	4	3	0	2	rs148484995	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140573719G>A	ENST00000239446.4	+	1	1778	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCGCGTGGGCGCCACAGA	0.692																																						.											0													64	82	76					5																	140573719		2203	4300	6503	SO:0001583	missense	56126			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.1594G>A	5.37:g.140573719G>A	ENSP00000239446:p.Gly532Ser		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	121	0.0554029304029304	49	0.09959349593495935	14	0.03867403314917127	4	0.006993006993006993	54	0.0712401055408971	g	13.25	2.180349	0.38511	.	.	ENSG00000120324	ENST00000239446	T	0.01647	4.71	3.53	-1.46	0.08800	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00073	0.0002	N	0.04787	-0.16	0.09310	N	1	P	0.40578	0.722	P	0.50162	0.633	T	0.53781	-0.8390	9	0.34782	T	0.22	.	6.5285	0.22314	0.1851:0.6244:0.1905:0.0	.	532	Q9UN67	PCDBA_HUMAN	S	532	ENSP00000239446:G532S	ENSP00000239446:G532S	G	+	1	0	PCDHB10	140553903	0.000000	0.05858	0.997000	0.53966	0.972000	0.66771	-1.808000	0.01732	-0.175000	0.10725	0.549000	0.68633	GGC		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140573719	G	A	140573719	3	1	58	1	0	0	0	0	1	0	0	0	11535	1232	43	3	1596	3	PCDHB10	5	140573719	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	9965	140573719	40341541	31	5718			1	48		5	4	10047	N	T_G_AG_A	1.780722e-05
PCDHB10	56126	mdanderson.org	37	chr5	140573754	140573754	+	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	ggctcccccgcgctgagcagAgaggcgctggtgcgcgtgct	4	6	17	14	5	0	2	0	1	0	1	1	3	1	2	2	3	3	5	2	3	0	0	rs702386		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140573754A>C	ENST00000239446.4	+	1	1813	c.1629A>C	c.(1627-1629)agA>agC	p.R543S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> S (in Ref. 2; AAK51616). {ECO:0000305}.	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)			CGCTGAGCAGAGAGGCGCTGG	0.701																																						.											0													37	53	47					5																	140573754		2191	4291	6482	SO:0001583	missense	56126			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.1629A>C	5.37:g.140573754A>C	ENSP00000239446:p.Arg543Ser		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	1085	0.4967948717948718	272	0.5528455284552846	171	0.4723756906077348	330	0.5769230769230769	312	0.41160949868073876	a	3.278	-0.147626	0.06627	.	.	ENSG00000120324	ENST00000239446	T	0.46063	0.88	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00005	-3.295	0.50467	P	1.2299999999998423E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	8	0.02654	T	1	.	7.2252	0.26012	0.1715:0.7353:0.0:0.0932	rs702386;rs17844583	543	Q9UN67	PCDBA_HUMAN	S	543	ENSP00000239446:R543S	ENSP00000239446:R543S	R	+	3	2	PCDHB10	140553938	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.307000	0.19296	0.852000	0.35287	-0.233000	0.12211	AGA		0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140573754	A	C	140573754	3	2	58	1	0	0	0	0	1	0	0	0	11535	301	11	5	1631	5	PCDHB10	5	140573754	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	35	140573754	40341506	32	5719			1	48		5	4	10047	N	T_G_AG_A	1.780722e-05
ARSI	340075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	149677902	149677902	+	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	ccccaggccacattctcaccCtcgtgcaggtcgaagccgca	8	6	9	18	3	1	0	1	0	1	0	4	1	1	0	5	2	2	2	5	2	1	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:149677902C>A	ENST00000328668.7	-	2	1164	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	195					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)			CATTCTCACCCTCGTGCAGGT	0.627																																						.											0													56	54	55					5																	149677902		2203	4300	6503	SO:0001583	missense	340075			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.585G>T	5.37:g.149677902C>A	ENSP00000333395:p.Glu195Asp		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.123024	0.01770	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.96136	-3.92;-3.92;-3.92	4.32	2.52	0.30459	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.051777	0.85682	D	0.000000	D	0.85256	0.5655	N	0.11724	0.165	0.37798	D	0.927598	B	0.12013	0.005	B	0.22880	0.042	T	0.75028	-0.3462	10	0.02654	T	1	.	4.4599	0.11661	0.1488:0.5251:0.0:0.3261	.	195	Q5FYB1	ARSI_HUMAN	D	195;52;52	ENSP00000333395:E195D;ENSP00000426879:E52D;ENSP00000420955:E52D	ENSP00000333395:E195D	E	-	3	2	ARSI	149658095	0.049000	0.20398	0.998000	0.56505	0.927000	0.56198	-0.741000	0.04855	0.567000	0.29293	0.561000	0.74099	GAG		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		A	149677902	C	A	149677902	3	1	58	1	0	0	0	0	1	0	0	0	994	680	24	5	1128	5	ARSI	5	149677902	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	9104148	149677902	31237358	33	5720											
HLA-A	3105	mdanderson.org	37	chr6	29911240	29911240	+	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	ggcccatgaggcggagcagtTgagagcctacctggatggca	9	6	16	10	1	0	2	0	2	0	1	0	5	0	4	3	5	3	3	3	5	1	2	rs9260156	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:29911240T>A	ENST00000396634.1	+	5	880	c.539T>A	c.(538-540)tTg>tAg	p.L180*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.L180*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.L180*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.L180*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	180	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)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.L180*(1)		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						GCGGAGCAGTTGAGAGCCTAC	0.667									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)			N|||	1145	0.228634	0.025	0.2017	5008	,	,		12147	0.4732		0.1581	False		,,,				2504	0.3436					.											1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											40	29	33					6																	29911240		1509	2695	4204	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	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.539T>A	6.37:g.29911240T>A	ENSP00000379873:p.Leu180*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	605|605	0.27701465201465203|0.27701465201465203	57|57	0.11585365853658537|0.11585365853658537	97|97	0.26795580110497236|0.26795580110497236	282|282	0.493006993006993|0.493006993006993	169|169	0.22295514511873352|0.22295514511873352	.|.	25.5|25.5	4.639572|4.639572	0.87760|0.87760	.|.	.|.	ENSG00000206503|ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802|ENST00000355767	.|.	.|.	.|.	3.78|3.78	-7.56|-7.56	0.01322|0.01322	.|.	4.873430|.	0.01566|.	U|.	0.020372|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	P|P	0.999999999738598|0.999999999738598	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.7832|6.7832	0.23659|0.23659	0.5534:0.0:0.1127:0.3339|0.5534:0.0:0.1127:0.3339	rs9260156;rs11539955;rs16896023;rs41555815|rs9260156;rs11539955;rs16896023;rs41555815	.|.	.|.	.|.	X|R	180|155	.|.	.|.	L|X	+|+	2|1	0|0	HLA-A|HLA-A	30019219|30019219	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-12.720000|-12.720000	0.00001|0.00001	-3.712000|-3.712000	0.00117|0.00117	-2.599000|-2.599000	0.00162|0.00162	TTG|TGA		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29911240	T	A	29911240	4	1	58	1	0	0	0	0	0	1	0	0	7195	1821	63	5	549	5	HLA-A	6	29911240	Nonsense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10		29911240	141203827	34	5721											
HLA-B	3106	mdanderson.org	37	chr6	31324208	31324208	+	Missense_Mutation	SNP	G	G	T																															gcagccgtacatgctctggaGggtgtgagaccctggccccg																								rs12721829	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324208G>T	ENST00000412585.2	-	3	383	c.355C>A	c.(355-357)Ctc>Atc	p.L119I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	119	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ATGCTCTGGAGGGTGTGAGAC	0.687									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0													13	12	13					6																	31324208		1847	3958	5805	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.355C>A	6.37:g.31324208G>T	ENSP00000399168:p.Leu119Ile		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	552	0.25274725274725274	118	0.23983739837398374	91	0.2513812154696133	125	0.21853146853146854	218	0.287598944591029	N	2.641	-0.284193	0.05605	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00892	5.57;5.57	3.18	-6.36	0.01969	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	1978.090000	0.00496	N	0.000156	T	0.00039	0.0001	N	0.00251	-1.775	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.17433	0.014;0.018	T	0.48990	-0.8985	9	0.02654	T	1	.	0.6914	0.00892	0.2255:0.1723:0.3005:0.3017	rs12721829;rs17362043;rs17413629	119;119	P30480;P01889	1B42_HUMAN;1B07_HUMAN	I	119;130	ENSP00000399168:L119I;ENSP00000405931:L130I	ENSP00000399168:L119I	L	-	1	0	HLA-B	31432187	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-11.162000	0.00004	-4.716000	0.00035	-2.639000	0.00152	CTC		0.687	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31324208	G	T	31324208	3	4	58	1	0	0	0	0	1	0	0	0	7196	1000	35	5	753	5	HLA-B	6	31324208	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	1412968	31324208	139790859	35	5722	149	2									
HLA-B	3106	mdanderson.org	37	chr6	31324210	31324210	+	Missense_Mutation	SNP	G	G	A																															agccgtacatgctctggaggGtgtgagaccctggccccggc																								rs12721827	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324210G>A	ENST00000412585.2	-	3	381	c.353C>T	c.(352-354)aCc>aTc	p.T118I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	118	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCTCTGGAGGGTGTGAGACCC	0.687									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0													13	12	12					6																	31324210		1874	3989	5863	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.353C>T	6.37:g.31324210G>A	ENSP00000399168:p.Thr118Ile		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	547	0.25045787545787546	118	0.23983739837398374	90	0.24861878453038674	127	0.22202797202797203	212	0.2796833773087071	N	9.818	1.185018	0.21870	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00012	9.29;9.29	3.15	2.27	0.28462	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.000000	0.37095	U	0.002257	T	0.00073	0.0002	M	0.86268	2.805	0.53005	P	3.399999999997849E-5	B;B	0.20550	0.046;0.011	B;B	0.39119	0.201;0.291	T	0.08827	-1.0703	9	0.52906	T	0.07	.	8.4711	0.32986	0.1204:0.0:0.8796:0.0	rs12721827;rs17416961	118;118	P30480;P01889	1B42_HUMAN;1B07_HUMAN	I	118;129	ENSP00000399168:T118I;ENSP00000405931:T129I	ENSP00000399168:T118I	T	-	2	0	HLA-B	31432189	0.988000	0.35896	0.715000	0.30552	0.003000	0.03518	2.069000	0.41481	0.697000	0.31718	-0.722000	0.03604	ACC		0.687	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31324210	G	A	31324210	3	1	58	1	0	0	0	0	1	0	0	0	7196	1261	44	3	755	3	HLA-B	6	31324210	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	2	31324210	139790857	36	5723	149	2									
HLA-B	3106	broad.mit.edu	37	chr6	31324488	31324489	+	Frame_Shift_Ins	INS	-	-	GG																															ctcgctctggttgtagtagcINScgcgcaggttccgcaggctc																								rs554035740|rs375356947|rs3180380|rs41552715	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324488_31324489insGG	ENST00000412585.2	-	2	347_348	c.319_320insCC	c.(319-321)ggcfs	p.G107fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	107	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTTGTAGTAGCCGCGCAGGTTC	0.683									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0										902,3226		186,530,1348						2.3	0.1		dbSNP_130	41	1339,6747		223,893,2927	no	frameshift	HLA-B	NM_005514.6		409,1423,4275	A1A1,A1R,RR		16.5595,21.8508,18.3478				2241,9973				SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.319_320insCC	6.37:g.31324488_31324489insGG	ENSP00000399168:p.Gly107fs		Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	CCDS34394.1																																																																																				0.683	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		GG	31324489	-	GG	31324488	7	5	58	1	0	1	1	0	0	0	0	0	7196	739	26	0	792	0	HLA-B	6	31324488	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	278	31324488	139790579	37	5724											
SYNE1	23345	ucsc.edu	37	chr6	152577848	152577848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatcttgggttggcacgTcccctttgtacagtggcaca	7	14	10	10	1	1	0	0	0	1	0	2	0	2	0	2	3	1	4	2	3	2	6			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:152577848T>C	ENST00000367255.5	-	102	19626	c.19025A>G	c.(19024-19026)gAc>gGc	p.D6342G	SYNE1_ENST00000448038.1_Missense_Mutation_p.D6271G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D5954G|SYNE1_ENST00000356820.4_Missense_Mutation_p.D866G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6342G|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6271G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6342					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)		GGTTGGCACGTCCCCTTTGTA	0.473										HNSCC(10;0.0054)																												.											0													179	149	159					6																	152577848		2203	4300	6503	SO:0001583	missense	23345			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.19025A>G	6.37:g.152577848T>C	ENSP00000356224:p.Asp6342Gly		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	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271004	0.40194	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55760	0.6;0.59;0.5;0.59;0.7;2.56	5.29	5.29	0.74685	.	0.398931	0.23718	N	0.045244	T	0.28962	0.0719	L	0.29908	0.895	0.40582	D	0.981402	B;B;P	0.36959	0.44;0.44;0.575	B;B;B	0.33620	0.08;0.08;0.167	T	0.34976	-0.9807	10	0.66056	D	0.02	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	6342;6342;6271	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	G	6342;6271;6342;6271;5954;866	ENSP00000356224:D6342G;ENSP00000396024:D6271G;ENSP00000265368:D6342G;ENSP00000390975:D6271G;ENSP00000341887:D5954G;ENSP00000349276:D866G	ENSP00000265368:D6342G	D	-	2	0	SYNE1	152619541	1.000000	0.71417	0.487000	0.27428	0.370000	0.29829	6.003000	0.70701	2.128000	0.65567	0.528000	0.53228	GAC		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152577848	T	C	152577848	3	2	58	1	0	0	0	0	1	0	0	0	15442	1667	58	2	7621	2	SYNE1	6	152577848	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	121253360	152577848	18537219	38	5725											
C7orf50	84310	ucsc.edu	37	chr7	1167008	1167008	+	Missense_Mutation	SNP	T	T	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	tcacttcaggaacttttctcTtctgttttgccatcctgcaa	7	17	5	12	0	4	0	2	0	2	0	6	1	5	1	2	1	3	2	2	1	2	6			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:1167008T>C	ENST00000397098.3	-	2	940	c.14A>G	c.(13-15)aAg>aGg	p.K5R	C7orf50_ENST00000397100.2_Missense_Mutation_p.K5R|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5R|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	5							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		AACTTTTCTCTTCTGTTTTGC	0.443																																						.											0													60	53	55					7																	1167008		2203	4300	6503	SO:0001583	missense	84310			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.14A>G	7.37:g.1167008T>C	ENSP00000380286:p.Lys5Arg			Missense_Mutation	SNP	ENST00000397098.3	37	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.543912	0.45280	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.68	3.68	0.42216	.	0.069851	0.53938	D	0.000047	T	0.36110	0.0955	L	0.27053	0.805	0.26005	N	0.98206	D	0.67145	0.996	P	0.57679	0.825	T	0.07635	-1.0762	9	0.37606	T	0.19	-16.775	9.0127	0.36150	0.0:0.0:0.0:1.0	.	5	Q9BRJ6	CG050_HUMAN	R	5	.	ENSP00000350011:K5R	K	-	2	0	C7orf50	1133534	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.740000	0.47418	1.902000	0.55061	0.533000	0.62120	AAG		0.443	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		C	1167008	T	C	1167008	3	2	58	1	0	0	0	0	1	0	0	0	2399	1609	56	2	586	2	C7orf50	7	1167008	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10		1167008	157971655	39	5726											
RADIL	55698	mdanderson.org	37	chr7	4841470	4841470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgggagcccccacggcTgggttgccttccaggggggg	4	6	18	13	1	0	0	0	0	0	0	1	1	1	1	5	6	3	2	5	6	0	2	rs414035	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:4841470T>C	ENST00000399583.3	-	12	2843	c.2656A>G	c.(2656-2658)Agc>Ggc	p.S886G	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.S646G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	886	Pro-rich.		S -> G (in dbSNP:rs414035). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.6}.		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)		CCCCCACGGCTGGGTTGCCTT	0.726													C|||	4990	0.996406	1	0.9885	5008	,	,		12822	1		0.9901	False		,,,				2504	1					.											0								C	GLY/SER	3271,3		1634,3,0	5	7	6		2656	0.2	0	7	dbSNP_80	6	7442,54		3694,54,0	no	missense	RADIL	NM_018059.4	56	5328,57,0	CC,CT,TT		0.7204,0.0916,0.5292	benign	886/1076	4841470	10713,57	1637	3748	5385	SO:0001583	missense	55698			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.2656A>G	7.37:g.4841470T>C	ENSP00000382492:p.Ser886Gly		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	2176|2176	0.9963369963369964|0.9963369963369964	492|492	1.0|1.0	358|358	0.988950276243094|0.988950276243094	572|572	1.0|1.0	754|754	0.9947229551451188|0.9947229551451188	C|C	0.006|0.006	-2.029879|-2.029879	0.00410|0.00410	0.999084|0.999084	0.992796|0.992796	ENSG00000157927|ENSG00000157927	ENST00000544486|ENST00000399583;ENST00000316919;ENST00000538469	.|T;T	.|0.06687	.|3.34;3.27	4.94|4.94	0.203|0.203	0.15195|0.15195	.|.	.|1.064910	.|0.07231	.|N	.|0.862627	.|T	.|0.00012	.|0.0000	N|N	0.00210|0.00210	-1.845|-1.845	0.49687|0.49687	P|P	1.8300000000004424E-4|1.8300000000004424E-4	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	.|T	.|0.38394	.|-0.9663	.|9	.|0.12766	.|T	.|0.61	.|-6.6034	12.4289|12.4289	0.55563|0.55563	0.0:0.6455:0.0:0.3545|0.0:0.6455:0.0:0.3545	rs414035;rs10370995;rs57619776|rs414035;rs10370995;rs57619776	.|886;194	.|Q96JH8;Q75LH2	.|RADIL_HUMAN;.	.|G	-1|886;857;646	.|ENSP00000382492:S886G;ENSP00000442966:S646G	.|ENSP00000320946:S857G	.|S	-|-	.|1	.|0	RADIL|RADIL	4807996|4807996	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.568000|-0.568000	0.05909|0.05909	-1.265000|-1.265000	0.02449|0.02449	-3.198000|-3.198000	0.00054|0.00054	.|AGC		0.726	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		C	4841470	T	C	4841470	3	2	58	1	0	0	0	0	1	0	0	0	12997	1580	55	2	587	2	RADIL	7	4841470	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	3674462	4841470	154297193	40	5727											
TNRC18	84629	mdanderson.org	37	chr7	5353337	5353337	+	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	gcgggtggtgcgggactgggCtgcggcggtgccgggcgcgc	1	5	24	11	7	0	0	0	0	0	0	0	1	0	1	1	7	3	1	1	7	0	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:5353337C>A	ENST00000430969.1	-	27	7533	c.7185G>T	c.(7183-7185)caG>caT	p.Q2395H	TNRC18_ENST00000399537.4_Missense_Mutation_p.Q2395H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2395	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)		CGGGACTGGGCTGCGGCGGTG	0.701																																						.											0													10	13	12					7																	5353337		1560	3566	5126	SO:0001583	missense	84629			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.7185G>T	7.37:g.5353337C>A	ENSP00000395538:p.Gln2395His		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.046|7.046	0.563541|0.563541	0.13498|0.13498	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000328270|ENST00000399537;ENST00000430969	.|T;T	.|0.12879	.|2.65;2.64	4.73|4.73	1.92|1.92	0.25849|0.25849	.|.	.|0.000000	.|0.33023	.|N	.|0.005364	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.47716|0.47716	1.5|1.5	0.27352|0.27352	N|N	0.956201|0.956201	.|B	.|0.26120	.|0.142	.|B	.|0.19391	.|0.025	T|T	0.20107|0.20107	-1.0285|-1.0285	5|10	.|0.32370	.|T	.|0.25	.|.	8.3507|8.3507	0.32301|0.32301	0.0:0.7501:0.0:0.2499|0.0:0.7501:0.0:0.2499	.|.	.|2395	.|O15417	.|TNC18_HUMAN	S|H	209|2395	.|ENSP00000382452:Q2395H;ENSP00000395538:Q2395H	.|ENSP00000382452:Q2395H	A|Q	-|-	1|3	0|2	TNRC18|TNRC18	5319863|5319863	0.999000|0.999000	0.42202|0.42202	0.767000|0.767000	0.31495|0.31495	0.003000|0.003000	0.03518|0.03518	0.746000|0.746000	0.26275|0.26275	0.093000|0.093000	0.17368|0.17368	-0.258000|-0.258000	0.10820|0.10820	GCC|CAG		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5353337	C	A	5353337	3	1	58	1	0	0	0	0	1	0	0	0	16336	796	28	5	1737	5	TNRC18	7	5353337	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	511867	5353337	153785326	41	5728											
HIP1	3092	broad.mit.edu	37	chr7	75187548	75187549	+	Frame_Shift_Ins	INS	-	-	T																															ctatatcgctgttcattggcINSttgagctttccctgtattgt																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:75187548_75187549insT	ENST00000336926.6	-	15	1412_1413	c.1386_1387insA	c.(1384-1389)caagccfs	p.A463fs	HIP1_ENST00000434438.2_Frame_Shift_Ins_p.A463fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	463	pDED.				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						TGTTCATTGGCTTGAGCTTTCC	0.535			T	PDGFRB	CMML																																	.		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0																																										SO:0001589	frameshift_variant	3092			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.1387dupA	7.37:g.75187550_75187550dupT	ENSP00000336747:p.Ala463fs		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Frame_Shift_Ins	INS	ENST00000336926.6	37	CCDS34669.1																																																																																				0.535	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		T	75187549	-	T	75187548	7	5	58	1	0	1	1	0	0	0	0	0	7114	797	28	0	1794	0	HIP1	7	75187548	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	69834211	75187548	83951115	42	5729											
MDH2	4191	mdanderson.org	37	chr7	75677504	75677504	+	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	ctccgccctcgcccggcctgCcagcgctgctctccgccgca	2	6	10	23	6	1	0	0	0	1	0	4	0	2	0	7	1	3	3	7	1	0	0	rs6720	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:75677504C>T	ENST00000315758.5	+	1	120	c.26C>T	c.(25-27)gCc>gTc	p.A9V	STYXL1_ENST00000359697.3_5'Flank|MDH2_ENST00000443006.1_5'UTR|STYXL1_ENST00000431581.1_5'Flank|STYXL1_ENST00000340062.5_5'Flank|STYXL1_ENST00000248600.1_5'Flank|MDH2_ENST00000461263.2_Missense_Mutation_p.A9V|STYXL1_ENST00000460184.2_5'Flank|MDH2_ENST00000432020.2_Missense_Mutation_p.A9V|STYXL1_ENST00000360591.3_5'Flank|STYXL1_ENST00000451157.1_5'Flank|MDH2_ENST00000490105.1_3'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	9			A -> V (in dbSNP:rs17849553). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GCCCGGCCTGCCAGCGCTGCT	0.741													c|||	2615	0.522165	0.7073	0.4164	5008	,	,		14327	0.6071		0.327	False		,,,				2504	0.4601					.											0								C	VAL/ALA	2410,1644		759,892,376	9	7	8		26	0.6	0	7	dbSNP_123	8	2255,5607		413,1429,2089	no	missense	MDH2	NM_005918.2	64	1172,2321,2465	TT,TC,CC		28.6823,40.5525,39.149	benign	9/339	75677504	4665,7251	2027	3931	5958	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.26C>T	7.37:g.75677504C>T	ENSP00000327070:p.Ala9Val		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	1104	0.5054945054945055	353	0.717479674796748	147	0.40607734806629836	356	0.6223776223776224	248	0.32717678100263853	C	15.67	2.903178	0.52333	0.594475	0.286823	ENSG00000146701	ENST00000315758;ENST00000432020	T;T	0.41758	0.99;0.99	5.57	0.558	0.17266	.	0.307415	0.35262	N	0.003322	T	0.00012	0.0000	L	0.33624	1.015	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34054	-0.9844	9	0.25751	T	0.34	-8.1463	9.0275	0.36239	0.0:0.6206:0.0:0.3794	rs6720	9;9	E9PDB2;P40926	.;MDHM_HUMAN	V	9	ENSP00000327070:A9V;ENSP00000408649:A9V	ENSP00000327070:A9V	A	+	2	0	MDH2	75515440	0.001000	0.12720	0.004000	0.12327	0.754000	0.42855	0.356000	0.20181	0.047000	0.15862	0.650000	0.86243	GCC		0.741	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			T	75677504	C	T	75677504	3	4	58	1	0	0	0	0	1	0	0	0	9410	739	26	3	28	3	MDH2	7	75677504	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	489956	75677504	83461159	43	5730											
DTX2	113878	mdanderson.org	37	chr7	76112348	76112348	+	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	gcgcccaggctgaacaccacCaacgcctggggcgcagctcc	8	3	12	18	3	0	1	0	1	0	0	1	1	1	1	5	3	3	3	5	3	2	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:76112348C>G	ENST00000324432.5	+	5	1302	c.792C>G	c.(790-792)acC>acG	p.T264T	DTX2_ENST00000307569.8_Silent_p.T264T|DTX2_ENST00000446600.1_Silent_p.T173T|DTX2_ENST00000446820.2_Silent_p.T264T|DTX2_ENST00000430490.2_Silent_p.T264T|DTX2_ENST00000413936.2_Silent_p.T264T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	264					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						TGAACACCACCAACGCCTGGG	0.672																																						.											0													66	77	74					7																	76112348		2203	4300	6503	SO:0001819	synonymous_variant	113878				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.792C>G	7.37:g.76112348C>G			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	CCDS5587.1																																																																																				0.672	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			G	76112348	C	G	76112348	2	3	58	1	0	0	0	0	0	0	0	1	4794	581	21	5		5	DTX2	7	76112348	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	434844	76112348	83026315	44	5731											
C7orf51	222950	broad.mit.edu	37	chr7	100084672	100084673	+	Frame_Shift_Ins	INS	-	-	G																															gtgtcgggggtggccctggcINSggggccagtgggggcctcac																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100084672_100084673insG	ENST00000300179.2	+	3	456_457	c.297_298insG	c.(298-300)gggfs	p.G100fs	NYAP1_ENST00000423930.1_Frame_Shift_Ins_p.G100fs|NYAP1_ENST00000454988.1_Frame_Shift_Ins_p.G43fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	100	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GTGGCCCTGGCGGGGCCAGTGG	0.723																																						.											0																																										SO:0001589	frameshift_variant	222950			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.301dupG	7.37:g.100084676_100084676dupG	ENSP00000300179:p.Gly100fs		Q6U9Y3|Q8N1V0	Frame_Shift_Ins	INS	ENST00000300179.2	37	CCDS5696.1																																																																																				0.723	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		G	100084673	-	G	100084672	7	5	58	1	0	1	1	0	0	0	0	0	2400	755	27	0	303	0	C7orf51	7	100084672	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	23972324	100084672	59053991	45	5732											
PCOLCE	5118	broad.mit.edu;hgsc.bcm.edu	37	chr7	100204166	100204166	+	Frame_Shift_Del	DEL	G	G	-																															ccaaagaagggcaagggcccGgccccaaacggggaactgag																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204166delG	ENST00000223061.5	+	6	1133	c.853delG	c.(853-855)ggcfs	p.G285fs	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					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)					GCAAGGGCCCGGCCCCAAACG	0.602																																						.											0													44	47	46					7																	100204166		2203	4300	6503	SO:0001589	frameshift_variant	5118			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.853delG	7.37:g.100204166delG	ENSP00000223061:p.Gly285fs		B2R9E1|O14550	Frame_Shift_Del	DEL	ENST00000223061.5	37	CCDS5700.1																																																																																				0.602	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		-	100204166	G	-	100204166	7	5	58	1	0	1	0	1	0	0	0	0	11594	1116	39	0	875	0	PCOLCE	7	100204166	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	119494	100204166	58934497	46	5733	150	3									
PCOLCE	5118	bcgsc.ca	37	chr7	100204167	100204167	+	Frame_Shift_Del	DEL	G	G	-																															caaagaagggcaagggcccgGccccaaacggggaactgagc																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204167delG	ENST00000223061.5	+	6	1134	c.854delG	c.(853-855)ggcfs	p.G285fs	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					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)					CAAGGGCCCGGCCCCAAACGG	0.597																																						.											0													44	47	46					7																	100204167		2203	4300	6503	SO:0001589	frameshift_variant	5118			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.854delG	7.37:g.100204167delG	ENSP00000223061:p.Gly285fs		B2R9E1|O14550	Frame_Shift_Del	DEL	ENST00000223061.5	37	CCDS5700.1																																																																																				0.597	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		-	100204167	G	-	100204167	7	5	58	1	0	1	0	1	0	0	0	0	11594	1203	42	0	876	0	PCOLCE	7	100204167	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	1	100204167	58934496	47	5734	150	3									
PCOLCE	5118	hgsc.bcm.edu	37	chr7	100204168	100204168	+	Silent	SNP	C	C	A																															aaagaagggcaagggcccggCcccaaacggggaactgagcc																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204168C>A	ENST00000223061.5	+	6	1135	c.855C>A	c.(853-855)ggC>ggA	p.G285G	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					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)					AAGGGCCCGGCCCCAAACGGG	0.597																																						.											0													45	47	46					7																	100204168		2203	4300	6503	SO:0001819	synonymous_variant	5118			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.855C>A	7.37:g.100204168C>A			B2R9E1|O14550	Silent	SNP	ENST00000223061.5	37	CCDS5700.1																																																																																				0.597	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		A	100204168	C	A	100204168	2	1	58	1	0	0	0	0	0	0	0	1	11594	726	26	5		5	PCOLCE	7	100204168	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	1	100204168	58934495	48	5735	150	3									
ZAN	7455	bcgsc.ca	37	chr7	100334192	100334192	+	RNA	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	cagacgatgaagactgggttCgagccagtgggccctctccc	8	7	13	13	2	1	3	0	1	1	2	3	5	1	3	3	2	1	1	3	2	1	1	rs200760090		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100334192C>T	ENST00000348028.3	+	0	358				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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.R65*(1)		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)			AGACTGGGTTCGAGCCAGTGG	0.622																																						.											1	Substitution - Nonsense(1)	large_intestine(1)						C	stop/ARG,stop/ARG	0,3648		0,0,1824	82	80	80		193,193	4.7	0.5	7		80	2,7762		0,2,3880	yes	stop-gained,stop-gained	ZAN	NM_003386.1,NM_173059.1	,	0,2,5704	TT,TC,CC		0.0258,0.0,0.0175	,	65/2813,65/2722	100334192	2,11410	1824	3882	5706			7455			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.100334192C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Nonsense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.869836	0.91587	0.0	2.58E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	4.7	4.7	0.59300	.	0.000000	0.29009	N	0.013438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8686	0.63603	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000423579:R65X	R	+	1	2	ZAN	100172128	0.062000	0.20869	0.490000	0.27465	0.318000	0.28184	2.025000	0.41059	2.551000	0.86045	0.561000	0.74099	CGA		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100334192	C	T	100334192	1	4	58	0	1	0	0	0	0	0	0	0	17510	876	31	1		1	ZAN	7	100334192	RNA	SNP	C	TCGA-KO-8408-01A-11D-2310-10	130024	100334192	58804471	49	5736											
ZAN	7455	broad.mit.edu	37	chr7	100349927	100349927	+	RNA	DEL	C	C	-																															cccacagaaaaatccaccatCtccccagaaaaacccaccac																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100349927delC	ENST00000348028.3	+	0	2364				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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)			AATCCACCATCTCCCCAGAAA	0.512																																						.											0													133	148	143					7																	100349927		1823	4070	5893			7455			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.100349927delC			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37																																																																																					0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		-	100349927	C	-	100349927	6	5	58	0	1	1	0	1	0	0	0	0	17510	903	32	0		0	ZAN	7	100349927	RNA	DEL	C	TCGA-KO-8408-01A-11D-2310-10	15735	100349927	58788736	50	5737	151	2									
ZAN	7455	broad.mit.edu	37	chr7	100349931	100349932	+	RNA	INS	-	-	T																															agaaaaatccaccatctcccINScagaaaaacccaccaccccc																								rs376016003		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100349931_100349932insT	ENST00000348028.3	+	0	2368_2369				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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)			CACCATCTCCCCAGAAAAACCC	0.515																																						.											0																																												7455			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.100349931_100349932insT			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Ins	INS	ENST00000348028.3	37																																																																																					0.515	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100349932	-	T	100349931	6	5	58	0	1	1	1	0	0	0	0	0	17510	623	22	0		0	ZAN	7	100349931	RNA	INS	-	TCGA-KO-8408-01A-11D-2310-10	4	100349931	58788732	51	5738	151	2									
PLXNA4	91584	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	131913154	131913154	+	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	tgttgggatggaccgtcagcCggacacactgcttcatctcc	7	10	11	13	2	3	0	2	0	1	0	4	3	3	3	3	3	2	2	3	3	0	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:131913154C>T	ENST00000359827.3	-	6	2641	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R560Q			Q9HCM2	PLXA4_HUMAN	plexin A4	560					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						GACCGTCAGCCGGACACACTG	0.592																																						.											0													82	87	85					7																	131913154		1987	4171	6158	SO:0001583	missense	91584			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.1679G>A	7.37:g.131913154C>T	ENSP00000352882:p.Arg560Gln		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711357	0.30322	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.21361	2.01;2.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	B	0.19935	0.04	B	0.10450	0.005	T	0.19582	-1.0301	10	0.11794	T	0.64	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	560	Q9HCM2	PLXA4_HUMAN	Q	560	ENSP00000323194:R560Q;ENSP00000352882:R560Q	ENSP00000323194:R560Q	R	-	2	0	PLXNA4	131563694	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.067000	0.41461	2.793000	0.96121	0.655000	0.94253	CGG		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131913154	C	T	131913154	3	4	58	1	0	0	0	0	1	0	0	0	12122	652	23	1	4113	1	PLXNA4	7	131913154	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	31563223	131913154	27225509	52	5739											
SLC35B4	84912	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr7	133986798	133986798	+	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	taccacctgctttgctgacaTaaaagtgcaaataaatatcc	15	11	5	10	0	0	1	0	1	0	0	1	1	1	1	3	0	4	3	3	0	7	5	rs377475240		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:133986798T>A	ENST00000378509.4	-	5	708	c.409A>T	c.(409-411)Atg>Ttg	p.M137L		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	137					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TTTGCTGACATAAAAGTGCAA	0.343																																						.											0													77	84	82					7																	133986798		2203	4300	6503	SO:0001583	missense	84912			AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"Solute carriers"	20584	protein-coding gene	gene with protein product		610923	"solute carrier family 35, member B4"				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.409A>T	7.37:g.133986798T>A	ENSP00000367770:p.Met137Leu		A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	37	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.712721	0.48517	.	.	ENSG00000205060	ENST00000378509	T	0.68181	-0.31	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	L	0.48362	1.52	0.80722	D	1	B;B;B	0.29646	0.253;0.128;0.155	B;B;B	0.31495	0.115;0.08;0.131	T	0.56214	-0.8016	10	0.11182	T	0.66	-1.4447	15.8874	0.79261	0.0:0.0:0.0:1.0	.	137;137;137	Q969S0-3;Q969S0-2;Q969S0	.;.;S35B4_HUMAN	L	137	ENSP00000367770:M137L	ENSP00000367770:M137L	M	-	1	0	SLC35B4	133637338	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.598000	0.82745	2.230000	0.72887	0.528000	0.53228	ATG		0.343	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826		A	133986798	T	A	133986798	3	1	58	1	0	0	0	0	1	0	0	0	14578	1406	49	5	610	5	SLC35B4	7	133986798	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	2073644	133986798	25151865	53	5740											
PDIA4	9601	mdanderson.org	37	chr7	148725417	148725417	+	Missense_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	cgcgcttgccgctcaccctcGtccgggccctcggcacccgc	2	6	11	22	7	1	0	1	0	0	0	4	0	2	0	5	2	1	3	5	2	0	1	rs368592590	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:148725417G>T	ENST00000286091.4	-	1	316	c.84C>A	c.(82-84)gaC>gaA	p.D28E		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	28	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GCTCACCCTCGTCCGGGCCCT	0.766													G|||	3	0.000599042	0	0	5008	,	,		9672	0		0.003	False		,,,				2504	0					.											0								G	GLU/ASP	2,3246		0,2,1622	4	6	6		84	4.7	0.9	7		6	6,5918		0,6,2956	no	missense	PDIA4	NM_004911.4	45	0,8,4578	TT,TG,GG		0.1013,0.0616,0.0872	benign	28/646	148725417	8,9164	1624	2962	4586	SO:0001583	missense	9601			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.84C>A	7.37:g.148725417G>T	ENSP00000286091:p.Asp28Glu		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	G	5.261	0.233586	0.09969	6.16E-4	0.001013	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.45668	2.28;0.89	5.58	4.69	0.59074	Thioredoxin-like fold (1);	1.385570	0.04197	N	0.329265	T	0.25195	0.0612	N	0.08118	0	0.24603	N	0.993766	B	0.20887	0.049	B	0.17979	0.02	T	0.12066	-1.0562	10	0.02654	T	1	.	11.8705	0.52517	0.0822:0.0:0.9178:0.0	.	28	P13667	PDIA4_HUMAN	E	28	ENSP00000286091:D28E;ENSP00000408628:D28E	ENSP00000286091:D28E	D	-	3	2	PDIA4	148356350	0.691000	0.27709	0.932000	0.37286	0.283000	0.27025	1.045000	0.30341	1.344000	0.45657	0.655000	0.94253	GAC		0.766	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		T	148725417	G	T	148725417	3	4	58	1	0	0	0	0	1	0	0	0	11670	1136	40	5	1893	5	PDIA4	7	148725417	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	14738619	148725417	10413246	54	5741											
KRBA1	84626	broad.mit.edu	37	chr7	149430350	149430351	+	Frame_Shift_Ins	INS	-	-	C																															ctgagctgcccagtgagtctINSccccctccggagctgccccc																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:149430350_149430351insC	ENST00000485033.2	+	15	2124_2125	c.2124_2125insC	c.(2125-2127)cccfs	p.P709fs	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Frame_Shift_Ins_p.P709fs|KRBA1_ENST00000255992.10_Frame_Shift_Ins_p.P769fs			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	770	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)			CCAGTGAGTCTCCCCCTCCGGA	0.653																																						.											0																																										SO:0001589	frameshift_variant	84626			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.2129dupC	7.37:g.149430355_149430355dupC	ENSP00000420112:p.Pro709fs		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Frame_Shift_Ins	INS	ENST00000485033.2	37																																																																																					0.653	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		C	149430351	-	C	149430350	7	5	58	1	0	1	1	0	0	0	0	0	8439	1538	54	0	2368	0	KRBA1	7	149430350	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	704933	149430350	9708313	55	5742											
ACTR3B	57180	mdanderson.org	37	chr7	152522195	152522195	+	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	tgccccatcgatgtgcggcgCccgctgtataaggtatgagc	7	9	13	12	4	0	1	0	1	0	0	1	2	0	1	3	2	3	3	3	2	3	3	rs200914813	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:152522195C>T	ENST00000256001.8	+	9	1073	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ACTR3B_ENST00000537264.1_Silent_p.R225R|ACTR3B_ENST00000397282.2_Silent_p.R225R|ACTR3B_ENST00000377776.3_Silent_p.R313R	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	313						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ATGTGCGGCGCCCGCTGTATA	0.413																																						.											0													85	79	81					7																	152522195		2203	4300	6503	SO:0001819	synonymous_variant	57180				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.939C>T	7.37:g.152522195C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	CCDS5934.1																																																																																				0.413	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		T	152522195	C	T	152522195	2	4	58	1	0	0	0	0	0	0	0	1	213	726	26	3		3	ACTR3B	7	152522195	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	3091845	152522195	6616468	56	5743											
HR	55806	broad.mit.edu	37	chr8	21980059	21980060	+	Frame_Shift_Ins	INS	-	-	G																															gcatcagcttggcaggggcaINSgtgcccccggatatcaaact																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:21980059_21980060insG	ENST00000381418.4	-	8	3547_3548	c.2067_2068insC	c.(2065-2070)cactgcfs	p.C690fs	HR_ENST00000312841.8_Frame_Shift_Ins_p.C690fs	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	690					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)		TGGCAGGGGCAGTGCCCCCGGA	0.639																																						.											0																																										SO:0001589	frameshift_variant	55806			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.2068dupC	8.37:g.21980060_21980060dupG	ENSP00000370826:p.Cys690fs		Q6GS30|Q96H33|Q9NPE1	Frame_Shift_Ins	INS	ENST00000381418.4	37	CCDS6022.1																																																																																				0.639	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			G	21980060	-	G	21980059	7	5	58	1	0	1	1	0	0	0	0	0	7347	188	7	0	1549	0	HR	8	21980059	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10		21980059	124383963	57	5744											
BMP1	649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	22052331	22052331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgctactgtggctatgAgaagcctgatgacatcaaga	11	8	13	9	2	1	4	1	3	0	2	1	5	1	4	1	2	2	2	1	2	4	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:22052331A>G	ENST00000306385.5	+	12	2208	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G	BMP1_ENST00000397814.3_Missense_Mutation_p.E513G|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.E513G|BMP1_ENST00000306349.8_Missense_Mutation_p.E513G	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	513	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGTGGCTATGAGAAGCCTGAT	0.567																																						.											0													81	80	80					8																	22052331		2203	4300	6503	SO:0001583	missense	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1538A>G	8.37:g.22052331A>G	ENSP00000305714:p.Glu513Gly		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789672	0.70337	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.25	5.25	0.73442	CUB (5);	0.000000	0.38959	U	0.001504	T	0.22551	0.0544	L	0.33293	1	0.80722	D	1	P;P;P;P	0.51653	0.763;0.932;0.947;0.862	B;P;P;P	0.51945	0.355;0.685;0.661;0.526	T	0.00931	-1.1510	10	0.44086	T	0.13	.	14.1289	0.65240	1.0:0.0:0.0:0.0	.	513;586;513;513	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	G	513	ENSP00000305714:E513G;ENSP00000380917:E513G;ENSP00000306121:E513G;ENSP00000380915:E513G	ENSP00000306121:E513G	E	+	2	0	BMP1	22108276	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.339000	0.96797	1.973000	0.57446	0.379000	0.24179	GAG		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		G	22052331	A	G	22052331	3	3	58	1	0	0	0	0	1	0	0	0	1456	304	11	2	1584	2	BMP1	8	22052331	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	72272	22052331	124311691	58	5745											
FAM150A	389658	mdanderson.org	37	chr8	53477780	53477780	+	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	agccagcgccagcaggaagaGtgcgggcaaaggggcgccgg	10	1	19	11	4	0	1	0	0	0	1	0	2	0	2	3	5	4	2	3	5	2	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:53477780G>C	ENST00000358543.4	-	1	287	c.37C>G	c.(37-39)Ctc>Gtc	p.L13V	FAM150A_ENST00000523939.1_Missense_Mutation_p.L13V	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	13						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				AGCAGGAAGAGTGCGGGCAAA	0.716																																						.											0													2	3	3					8																	53477780		1704	3379	5083	SO:0001583	missense	389658				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.37C>G	8.37:g.53477780G>C	ENSP00000351345:p.Leu13Val		B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574998	0.28092	.	.	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	2.65	1.76	0.24704	.	0.282155	0.21875	U	0.067834	T	0.32406	0.0828	N	0.24115	0.695	0.09310	N	1	D;D	0.60160	0.987;0.974	P;P	0.56088	0.791;0.671	T	0.06698	-1.0812	9	0.72032	D	0.01	.	5.4181	0.16386	0.1615:0.0:0.8385:0.0	.	13;13	B7ZMG9;Q6UXT8	.;F150A_HUMAN	V	13	.	ENSP00000351345:L13V	L	-	1	0	FAM150A	53640333	0.006000	0.16342	0.008000	0.14137	0.030000	0.12068	0.943000	0.29030	0.666000	0.31087	0.467000	0.42956	CTC		0.716	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413		C	53477780	G	C	53477780	3	2	58	1	0	0	0	0	1	0	0	0	5456	1029	36	5	368	5	FAM150A	8	53477780	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	31425449	53477780	92886242	59	5746											
RIPK2	8767	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr8	90802425	90802425	+	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	gcccttctgtccagggacttGatcatgaaagaggactatga	11	10	11	9	0	2	4	1	3	1	1	3	6	3	6	2	2	0	0	2	2	2	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:90802425G>A	ENST00000220751.4	+	11	1718	c.1404G>A	c.(1402-1404)ttG>ttA	p.L468L	RIPK2_ENST00000540020.1_Silent_p.L331L	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	468	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|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)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|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 peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCAGGGACTTGATCATGAAAG	0.453																																						.											0													98	94	95					8																	90802425		2203	4300	6503	SO:0001819	synonymous_variant	8767			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1404G>A	8.37:g.90802425G>A			B7Z748|Q6UWF0	Silent	SNP	ENST00000220751.4	37	CCDS6247.1																																																																																				0.453	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			A	90802425	G	A	90802425	2	1	58	1	0	0	0	0	0	0	0	1	13381	1281	45	4		4	RIPK2	8	90802425	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	37324645	90802425	55561597	60	5747											
COL14A1	7373	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	121238908	121238908	+	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	cttagaaattgatgaggtgaCgacagacagttttagggtga	13	11	13	4	1	0	6	0	4	0	2	0	7	0	6	0	2	0	1	0	2	3	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M	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)			GATGAGGTGACGACAGACAGT	0.483																																						.											0													95	86	89					8																	121238908		2203	4300	6503	SO:0001583	missense	7373				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.1907C>T	8.37:g.121238908C>T	ENSP00000297848:p.Thr636Met			Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568018	0.45798	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549752	0.18638	N	0.135373	T	0.61060	0.2317	M	0.82517	2.595	0.80722	D	1	B;B	0.22851	0.076;0.036	B;B	0.19946	0.027;0.015	T	0.59783	-0.7389	10	0.59425	D	0.04	.	12.8014	0.57588	0.4222:0.5778:0.0:0.0	.	636;636	Q05707-2;Q05707	.;COEA1_HUMAN	M	636;636;541;449	ENSP00000311809:T636M;ENSP00000297848:T636M;ENSP00000247781:T541M;ENSP00000409461:T449M	ENSP00000247781:T541M	T	+	2	0	COL14A1	121308089	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.518000	0.35877	0.512000	0.28257	0.557000	0.71058	ACG		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121238908	C	T	121238908	3	4	58	1	0	0	0	0	1	0	0	0	3671	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	30436483	121238908	25125114	61	5748											
EPPK1	83481	mdanderson.org	37	chr8	144940378	144940378	+	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	tggctgtgcacggggtcgatGacgccgcccgtggcgatctg	4	8	17	12	6	1	1	0	1	1	0	2	3	1	1	2	4	1	2	2	4	0	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:144940378G>A	ENST00000525985.1	-	2	7115	c.7044C>T	c.(7042-7044)gtC>gtT	p.V2348V				P58107	EPIPL_HUMAN	epiplakin 1	2348						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)			CGGGGTCGATGACGCCGCCCG	0.701																																						.											0													194	188	190					8																	144940378		2168	4240	6408	SO:0001819	synonymous_variant	83481			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.7044C>T	8.37:g.144940378G>A			Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940378	G	A	144940378	2	1	58	1	0	0	0	0	0	0	0	1	5190	1277	45	4		4	EPPK1	8	144940378	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	23701470	144940378	1423644	62	5749											
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-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	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																																						.											0													44	52	50					8																	145108284		2081	4210	6291	SO:0001583	missense	26873			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		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	58	1	0	0	0	0	1	0	0	0	10876	1203	42	5	1201	5	OPLAH	8	145108284	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	167906	145108284	1255738	63	5750											
OPLAH	26873	mdanderson.org	37	chr8	145113241	145113241	+	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	cgggcccgagagcacagcacTggagccgctgaaggtgtcca	9	4	15	13	3	0	2	0	1	0	1	1	4	1	3	3	3	3	3	3	3	1	0	rs3935209	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:145113241T>G	ENST00000426825.1	-	7	931	c.850A>C	c.(850-852)Agt>Cgt	p.S284R	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	284			S -> R (in dbSNP:rs3935209).		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)			AGCACAGCACTGGAGCCGCTG	0.687													G|||	1014	0.202476	0.5998	0.0893	5008	,	,		15381	0.003		0.0984	False		,,,				2504	0.0583					.											0								G	ARG/SER	1818,2076		465,888,594	6	9	8		850	2.9	1	8	dbSNP_108	8	604,7624		25,554,3535	yes	missense	OPLAH	NM_017570.3	110	490,1442,4129	GG,GT,TT		7.3408,46.6872,19.9802	benign	284/1289	145113241	2422,9700	1947	4114	6061	SO:0001583	missense	26873			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.850A>C	8.37:g.145113241T>G	ENSP00000475943:p.Ser284Arg		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		421	0.19276556776556777	297	0.6036585365853658	37	0.10220994475138122	13	0.022727272727272728	74	0.09762532981530343	G	11.48	1.649903	0.29336	0.466872	0.073408	ENSG00000178814	ENST00000426825	.	.	.	3.95	2.94	0.34122	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	.	.	.	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44421	-0.9329	7	0.02654	T	1	.	11.4387	0.50083	0.0:0.0:0.6654:0.3346	rs3935209;rs3935209	284;284	A7E261;O14841	.;OPLA_HUMAN	R	284	.	ENSP00000412071:S284R	S	-	1	0	OPLAH	145185229	0.940000	0.31905	0.981000	0.43875	0.538000	0.34931	0.568000	0.23623	0.652000	0.30806	-0.352000	0.07741	AGT		0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		G	145113241	T	G	145113241	3	3	58	1	0	0	0	0	1	0	0	0	10876	1580	55	5	3102	5	OPLAH	8	145113241	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	4957	145113241	1250781	64	5751											
PRSS3	5646	mdanderson.org	37	chr9	33796660	33796660	+	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	gttgctgtcccctttgacgaTgatgacaagattgttggggg	7	13	14	7	1	0	4	0	3	0	1	1	5	1	4	2	2	1	3	2	2	1	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:33796660T>C	ENST00000361005.5	+	2	231	c.231T>C	c.(229-231)gaT>gaC	p.D77D	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.D13D|PRSS3_ENST00000379405.3_Silent_p.D20D|PRSS3_ENST00000342836.4_Silent_p.D34D	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	77					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)			CCTTTGACGATGATGACAAGA	0.552																																						.											0													193	181	185					9																	33796660		2203	4300	6503	SO:0001819	synonymous_variant	5646				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.231T>C	9.37:g.33796660T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.552	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		C	33796660	T	C	33796660	2	2	58	1	0	0	0	0	0	0	0	1	12622	1461	51	4		4	PRSS3	9	33796660	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10		33796660	107416771	65	5752											
IL11RA	3590	broad.mit.edu	37	chr9	34658538	34658538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgccctgacccaccccaggGcctgcgggtagagtcagtac	7	5	13	16	2	1	2	1	1	0	1	1	2	1	2	5	2	2	2	5	2	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:34658538G>T	ENST00000555003.1	+	8	2024	c.668G>T	c.(667-669)gGc>gTc	p.G223V	IL11RA_ENST00000602473.1_Missense_Mutation_p.G223V|IL11RA_ENST00000318041.9_Missense_Mutation_p.G223V|IL11RA_ENST00000378817.4_Missense_Mutation_p.G223V|IL11RA_ENST00000441545.2_Missense_Mutation_p.G223V			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	223	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCACCCCAGGGCCTGCGGGTA	0.602																																						.											0													62	60	60					9																	34658538		2203	4300	6503	SO:0001583	missense	3590			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.668G>T	9.37:g.34658538G>T	ENSP00000450565:p.Gly223Val		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925777	0.73213	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000553620;ENST00000378817;ENST00000318041;ENST00000555981	T;T;T;T;T;T	0.72505	1.46;1.46;0.93;1.29;1.46;-0.66	5.15	4.19	0.49359	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.419860	0.27262	N	0.020180	T	0.73814	0.3635	L	0.54323	1.7	0.53688	D	0.999973	D;D	0.63880	0.993;0.993	P;P	0.59288	0.855;0.855	T	0.74876	-0.3515	10	0.62326	D	0.03	-19.9792	6.4922	0.22121	0.096:0.1853:0.7187:0.0	.	223;223	Q5VZ79;Q14626	.;I11RA_HUMAN	V	223;223;146;223;223;223	ENSP00000450565:G223V;ENSP00000394391:G223V;ENSP00000452207:G146V;ENSP00000368094:G223V;ENSP00000326500:G223V;ENSP00000450640:G223V	ENSP00000326500:G223V	G	+	2	0	IL11RA	34648538	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.129000	0.42055	2.401000	0.81631	0.563000	0.77884	GGC		0.602	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		T	34658538	G	T	34658538	3	4	58	1	0	0	0	0	1	0	0	0	7623	1203	42	5	694	5	IL11RA	9	34658538	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	861878	34658538	106554893	66	5753											
DCAF10	79269	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr9	37861212	37861212	+	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	gctgttctctacgactgactCattacattgaagaagccaat	12	12	7	10	1	2	3	1	2	1	1	3	4	2	3	1	0	3	2	1	0	5	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:37861212C>G	ENST00000377724.3	+	7	1752	c.1387C>G	c.(1387-1389)Cat>Gat	p.H463D	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Missense_Mutation_p.H426D|DCAF10_ENST00000483167.1_3'UTR	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	463					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						ACGACTGACTCATTACATTGA	0.488																																						.											0													121	112	115					9																	37861212		2203	4300	6503	SO:0001583	missense	79269			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.1387C>G	9.37:g.37861212C>G	ENSP00000366953:p.His463Asp		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392544	0.83011	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.75154	-0.69;-0.91	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	0.78805	0.4341	L	0.40543	1.245	0.80722	D	1	D;D	0.61697	0.96;0.99	D;D	0.68483	0.923;0.958	T	0.71437	-0.4593	10	0.08381	T	0.77	.	17.2476	0.87032	0.0:1.0:0.0:0.0	.	426;463	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	D	463;426	ENSP00000366953:H463D;ENSP00000242323:H426D	ENSP00000242323:H426D	H	+	1	0	DCAF10	37851212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.690000	0.91761	0.655000	0.94253	CAT		0.488	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		G	37861212	C	G	37861212	3	3	58	1	0	0	0	0	1	0	0	0	4261	826	29	5	1413	5	DCAF10	9	37861212	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	3202674	37861212	103352219	67	5754											
TUBB8	347688	mdanderson.org	37	chr10	94005	94005	+	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	actgactccatcagctccgcGccttcggtgtagtgtccctt	5	12	9	15	3	1	1	1	1	0	0	5	1	4	1	4	1	1	2	4	1	1	3	rs374716232		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:94005G>A	ENST00000309812.4	-	4	389	c.327C>T	c.(325-327)ggC>ggT	p.G109G	TUBB8_ENST00000447903.2_Silent_p.G37G|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.A73V	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	109					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)		TCAGCTCCGCGCCTTCGGTGT	0.602																																					Pancreas(192;2041 3010 9013 18103)	.											0													72	61	65					10																	94005		2203	4300	6503	SO:0001819	synonymous_variant	347688			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.327C>T	10.37:g.94005G>A			Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	6.147	0.395295	0.11638	.	.	ENSG00000173876	ENST00000309812;ENST00000332708	.	.	.	.	.	.	.	.	.	.	.	T	0.56016	0.1957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54754	-0.8246	4	0.87932	D	0	.	2.8768	0.05634	3.0E-4:2.0E-4:0.5045:0.4949	.	.	.	.	V	117;73	.	ENSP00000311042:A117V	A	-	2	0	RP11-631M21.2	84005	0.000000	0.05858	0.286000	0.24833	0.290000	0.27261	-5.243000	0.00138	0.119000	0.18210	0.121000	0.15741	GCG		0.602	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		A	94005	G	A	94005	2	1	58	1	0	0	0	0	0	0	0	1	16758	1074	38	1		1	TUBB8	10	94005	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10		94005	135440742	68	5755			2	49		2	2	14	N	T_G	6.21494e-05
TUBB8	347688	mdanderson.org	37	chr10	94018	94018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgcgccttcggtgtagTgtcccttggcccagttgttt	2	14	12	13	3	0	0	0	0	0	0	3	0	2	0	4	2	0	4	4	2	1	5	rs9329307	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:94018T>C	ENST00000309812.4	-	4	376	c.314A>G	c.(313-315)cAc>cGc	p.H105R	TUBB8_ENST00000447903.2_Missense_Mutation_p.H33R|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.T69A	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	105					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)	p.H105R(1)		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)		TTCGGTGTAGTGTCCCTTGGC	0.587																																					Pancreas(192;2041 3010 9013 18103)	.											1	Substitution - Missense(1)	prostate(1)											77	64	68					10																	94018		2203	4300	6503	SO:0001583	missense	347688			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.314A>G	10.37:g.94018T>C	ENSP00000311042:p.His105Arg		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.13|11.13	1.548903|1.548903	0.27652|0.27652	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974|ENST00000309812;ENST00000332708	T|.	0.69435|.	-0.4|.	.|.	.|.	.|.	Tubulin/FtsZ, GTPase domain (4);|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.52108|0.52108	0.1714|0.1714	.|.	.|.	.|.	0.34522|0.34522	D|D	0.708225|0.708225	P;P|.	0.49635|.	0.65;0.926|.	P;P|.	0.47102|.	0.537;0.52|.	T|T	0.60439|0.60439	-0.7263|-0.7263	8|4	0.87932|0.87932	D|D	0|0	.|.	4.5487|4.5487	0.12098|0.12098	0.0:6.0E-4:0.0:0.9994|0.0:6.0E-4:0.0:0.9994	rs9329307|rs9329307	68;105|.	C9JAA5;Q3ZCM7|.	.;TBB8_HUMAN|.	R|A	33;71;68;105|113;69	ENSP00000403895:H33R|.	ENSP00000272035:H71R|ENSP00000311042:T113A	H|T	-|-	2|1	0|0	RP11-631M21.2|RP11-631M21.2	84018|84018	1.000000|1.000000	0.71417|0.71417	0.316000|0.316000	0.25252|0.25252	0.320000|0.320000	0.28249|0.28249	5.418000|5.418000	0.66429|0.66429	0.103000|0.103000	0.17682|0.17682	0.102000|0.102000	0.15555|0.15555	CAC|ACT		0.587	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		C	94018	T	C	94018	3	2	58	1	0	0	0	0	1	0	0	0	16758	1696	59	2	1024	2	TUBB8	10	94018	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	13	94018	135440729	69	5756			2	49		2	2	14	N	T_G	6.21494e-05
GPRIN2	9721	mdanderson.org	37	chr10	47000239	47000239	+	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	cccagctgctgcggctgctcCggcgcggcccccgagtgagg	3	5	16	17	5	0	1	0	1	0	0	1	2	1	1	4	4	4	4	4	4	0	0	rs7912299	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:47000239C>T	ENST00000374317.1	+	3	1632	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GPRIN2_ENST00000374314.4_Silent_p.S453S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	453										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCGGCTGCTCCGGCGCGGCCC	0.746													C|||	2586	0.516374	0.5227	0.5159	5008	,	,		29285	0.5099		0.5159	False		,,,				2504	0.5153					.											0																																										SO:0001819	synonymous_variant	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1359C>T	10.37:g.47000239C>T			Q5SVF0	Silent	SNP	ENST00000374317.1	37	CCDS31192.1																																																																																				0.746	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		T	47000239	C	T	47000239	2	4	58	1	0	0	0	0	0	0	0	1	6730	639	23	1		1	GPRIN2	10	47000239	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	46906221	47000239	88534508	70	5757											
ARID5B	84159	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr10	63700094	63700094	+	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	aatggacagaaggaagctctGctgaagtacaggcagtcaac	15	6	12	8	0	2	2	1	1	1	1	2	4	2	4	0	3	4	4	0	3	6	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:63700094G>A	ENST00000279873.7	+	3	839	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	143					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)					AGGAAGCTCTGCTGAAGTACA	0.458																																						.											0													106	99	101					10																	63700094		2203	4300	6503	SO:0001819	synonymous_variant	84159			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.429G>A	10.37:g.63700094G>A			B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	CCDS31208.1																																																																																				0.458	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		A	63700094	G	A	63700094	2	1	58	1	0	0	0	0	0	0	0	1	922	1306	46	4		4	ARID5B	10	63700094	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	16699855	63700094	71834653	71	5758											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr10	89693003	89693003	+	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	gggaagtaaggaccagagacAaaaaggtaagttattttttg	16	10	12	3	0	0	1	0	0	0	1	0	4	0	3	1	3	0	3	1	3	6	6			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:89693003A>T	ENST00000371953.3	+	5	1844	c.487A>T	c.(487-489)Aaa>Taa	p.K163*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	163	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCAGAGACAAAAAGGTAAG	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	52	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Nonsense(2)	prostate(17)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)											49	51	50					10																	89693003		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.487A>T	10.37:g.89693003A>T	ENSP00000361021:p.Lys163*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	48	14.499243	0.99798	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3599	14.8682	0.70434	1.0:0.0:0.0:0.0	.	.	.	.	X	163	.	.	K	+	1	0	PTEN	89682983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.918000	0.92759	1.898000	0.54952	0.460000	0.39030	AAA		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89693003	A	T	89693003	4	4	58	1	0	0	0	0	0	1	0	0	12738	131	5	5	505	5	PTEN	10	89693003	Nonsense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	25992909	89693003	45841744	72	5759											
C10orf12	26148	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	98743653	98743653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaaatcagataaactgAaagagatttggaaaagcaag	21	6	10	4	0	1	3	1	1	0	2	1	6	1	5	0	2	3	1	0	2	8	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:98743653A>G	ENST00000286067.2	+	1	2613	c.2506A>G	c.(2506-2508)Aaa>Gaa	p.K836E		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	836										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGATAAACTGAAAGAGATTTG	0.413																																						.											0													71	68	69					10																	98743653		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2506A>G	10.37:g.98743653A>G	ENSP00000286067:p.Lys836Glu		Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601386	0.46423	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08720	3.06	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000074	T	0.24005	0.0581	L	0.45581	1.43	0.40968	D	0.984676	D	0.89917	1.0	D	0.79784	0.993	T	0.00385	-1.1773	10	0.66056	D	0.02	-14.5334	16.4216	0.83760	1.0:0.0:0.0:0.0	.	836	Q8N655	CJ012_HUMAN	E	836;670	ENSP00000286067:K836E	ENSP00000286067:K836E	K	+	1	0	C10orf12	98733643	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	6.944000	0.75940	2.285000	0.76669	0.533000	0.62120	AAA		0.413	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		G	98743653	A	G	98743653	3	3	58	1	0	0	0	0	1	0	0	0	1589	247	9	4	2508	4	C10orf12	10	98743653	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	9050650	98743653	36791094	73	5760											
AP2A2	161	broad.mit.edu	37	chr11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-																															aggctcttgatggctatagtAaaaaaaagtacgtctgcaag																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				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)	p.K57fs*24(1)		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)		TGGCTATAGTAAAAAAAAGTA	0.488																																						.											1	Deletion - Frameshift(1)	large_intestine(1)											132	134	134					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161			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.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		-	970195	A	-	970195	7	5	58	1	0	1	0	1	0	0	0	0	740	363	13	0	173	0	AP2A2	11	970195	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10		970195	134036321	74	5761											
MUC2	4583	hgsc.bcm.edu	37	chr11	1092954	1092954	+	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	cccatcaccaccaccactacGgtgaccccaaccccaacacc	12	3	3	23	1	1	1	1	1	0	0	1	1	1	1	9	1	3	0	9	1	3	1	rs56352686		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:1092954G>A	ENST00000359061.5	+	30	4776	c.4776G>A	c.(4774-4776)acG>acA	p.T1592T	MUC2_ENST00000441003.2_Silent_p.T1591T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank			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)	ccaccactacggtgaccccaa	0.627																																						.											0													52	85	74					11																	1092954		1812	3296	5108	SO:0001630	splice_region_variant	4583			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	ENST00000359061.5:c.4776+1G>A	11.37:g.1092954G>A			Q14878	Silent	SNP	ENST00000359061.5	37																																																																																					0.627	MUC2-202	KNOWN	basic	protein_coding	protein_coding		NM_002457	Silent	A	1092954	G	A	1092954	5	1	58	1	0	0	0	0	0	0	1	0	9975	1103	39	1	4891	1	MUC2	11	1092954	Splice_Site	SNP	G	TCGA-KO-8408-01A-11D-2310-10	122759	1092954	133913562	75	5762											
NUP98	4928	broad.mit.edu	37	chr11	3793077	3793078	+	Frame_Shift_Ins	INS	-	-	A																															gaagtggctggagaagacccINSaaacaagccagttgtggtac																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:3793077_3793078insA	ENST00000324932.7	-	7	1104_1105	c.684_685insT	c.(682-687)tttgggfs	p.G229fs	NUP98_ENST00000397004.4_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000397007.4_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000355260.3_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000359171.4_Frame_Shift_Ins_p.G229fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	229	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|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)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGAAGACCCAAACAAGCCAG	0.5			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0																																										SO:0001589	frameshift_variant	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.685dupT	11.37:g.3793080_3793080dupA	ENSP00000316032:p.Gly229fs		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Ins	INS	ENST00000324932.7	37	CCDS7746.1																																																																																				0.5	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		A	3793078	-	A	3793077	7	5	58	1	0	1	1	0	0	0	0	0	10773	594	21	0	4897	0	NUP98	11	3793077	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	2700123	3793077	131213439	76	5763											
SMPD1	322	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	6415260	6415260	+	IGR	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	cagtgcaactacctacatcgGccttaatcctggtgagtgag	10	10	10	11	1	0	2	0	2	0	0	2	2	1	2	3	2	4	1	3	2	4	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:6415260G>C	ENST00000609360.1	-	0	2642				APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000342245.4_Missense_Mutation_p.G492A|SMPD1_ENST00000356761.2_Missense_Mutation_p.G436A|SMPD1_ENST00000527275.1_Missense_Mutation_p.G491A|SMPD1_ENST00000299397.3_Missense_Mutation_p.G448A	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)		ACCTACATCGGCCTTAATCCT	0.557																																					GBM(147;1810 2556 5672 39622)	.											0													51	52	52					11																	6415260		2201	4296	6497	SO:0001628	intergenic_variant	6609			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.6415260G>C			A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.40|11.40	1.626864|1.626864	0.28978|0.28978	.|.	.|.	ENSG00000166311|ENSG00000166311	ENST00000526280|ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	4.74|4.74	1.58|1.58	0.23477|0.23477	.|.	.|0.866705	.|0.10215	.|N	.|0.701671	T|T	0.78059|0.78059	0.4224|0.4224	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.16396	.|0.008;0.017;0.003	.|B;B;B	.|0.15052	.|0.006;0.012;0.005	T|T	0.64803|0.64803	-0.6321|-0.6321	5|10	.|0.41790	.|T	.|0.15	-36.4075|-36.4075	5.4497|5.4497	0.16556|0.16556	0.5195:0.0:0.4805:0.0|0.5195:0.0:0.4805:0.0	.|.	.|491;448;490	.|E9PKS3;G3XAB5;P17405	.|.;.;ASM_HUMAN	P|A	178|448;436;492;491	.|ENSP00000299397:G448A;ENSP00000349203:G436A;ENSP00000340409:G492A;ENSP00000435350:G491A	.|ENSP00000299397:G448A	A|G	+|+	1|2	0|0	SMPD1|SMPD1	6371836|6371836	0.995000|0.995000	0.38212|0.38212	0.327000|0.327000	0.25402|0.25402	0.958000|0.958000	0.62258|0.62258	3.263000|3.263000	0.51546|0.51546	0.601000|0.601000	0.29879|0.29879	-0.291000|-0.291000	0.09656|0.09656	GCC|GGC		0.557	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		C	6415260	G	C	6415260	1	2	58	0	1	0	0	0	0	0	0	0	14804	1203	42	5		5	SMPD1	11	6415260	IGR	SNP	G	TCGA-KO-8408-01A-11D-2310-10	2622183	6415260	128591256	77	5764											
INSC	387755	broad.mit.edu	37	chr11	15267583	15267583	+	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	aacatggaggagagttttgtGtagtgagtgtgggcgaagaa	12	10	17	2	1	0	3	0	1	0	2	0	6	0	4	0	3	1	2	0	3	4	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:15267583G>T	ENST00000379554.3	+	13	1783	c.1737G>T	c.(1735-1737)gtG>gtT	p.V579V	INSC_ENST00000530161.1_Silent_p.V532V|INSC_ENST00000424273.1_Silent_p.V490V|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_3'UTR|INSC_ENST00000379556.3_Silent_p.V532V|INSC_ENST00000525218.1_Silent_p.V490V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	579					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						AGAGTTTTGTGTAGTGAGTGT	0.517																																						.											0													128	127	127					11																	15267583		1991	4169	6160	SO:0001819	synonymous_variant	387755			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.1737G>T	11.37:g.15267583G>T			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	CCDS41621.1																																																																																				0.517	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		T	15267583	G	T	15267583	2	4	58	1	0	0	0	0	0	0	0	1	7764	1364	48	5		5	INSC	11	15267583	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	8852323	15267583	119738933	78	5765											
CD5	921	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	60886402	60886402	+	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	tgcagaaccccagaagacaaCacctccaacgacaaggcccc	15	2	7	17	1	0	3	0	0	0	3	1	4	1	3	6	1	4	1	6	1	5	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:60886402C>G	ENST00000347785.3	+	4	582	c.416C>G	c.(415-417)aCa>aGa	p.T139R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	139					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGAAGACAACACCTCCAACG	0.597																																						.											0													129	112	118					11																	60886402		2202	4299	6501	SO:0001583	missense	921			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.416C>G	11.37:g.60886402C>G	ENSP00000342681:p.Thr139Arg		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	8.539	0.872797	0.17322	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.28666	1.6;1.6	4.43	3.51	0.40186	Speract/scavenger receptor-related (1);	0.670897	0.13065	N	0.416574	T	0.31702	0.0805	M	0.68317	2.08	0.09310	N	1	B	0.23316	0.083	B	0.15870	0.014	T	0.17653	-1.0362	10	0.42905	T	0.14	-0.064	10.4904	0.44748	0.0:0.8029:0.1971:0.0	.	139	P06127	CD5_HUMAN	R	139	ENSP00000342681:T139R;ENSP00000440899:T139R	ENSP00000342681:T139R	T	+	2	0	CD5	60642978	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	0.428000	0.21395	1.198000	0.43158	-0.233000	0.12211	ACA		0.597	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		G	60886402	C	G	60886402	3	3	58	1	0	0	0	0	1	0	0	0	3021	478	17	5	430	5	CD5	11	60886402	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	45618819	60886402	74120114	79	5766											
C11orf9	745	broad.mit.edu	37	chr11	61544745	61544745	+	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	actcgcggtaggcctccaacCcaggccagttcgagagcgac	9	5	12	15	4	0	1	0	0	0	1	3	3	1	1	4	3	2	2	4	3	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:61544745C>T	ENST00000278836.5	+	12	1696	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	MYRF_ENST00000327797.1_Missense_Mutation_p.P159S|MYRF_ENST00000265460.5_Missense_Mutation_p.P525S|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	534					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)										GGCCTCCAACCCAGGCCAGTT	0.677																																						.											0													47	45	45					11																	61544745		2202	4298	6500	SO:0001583	missense	745				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.1600C>T	11.37:g.61544745C>T	ENSP00000278836:p.Pro534Ser		O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606695	0.87157	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	D;D;T	0.89270	-2.49;-2.45;-0.96	3.83	3.83	0.44106	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.97004	0.9731	10	0.87932	D	0	-9.9032	16.617	0.84918	0.0:1.0:0.0:0.0	.	525;534	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	S	534;525;159	ENSP00000278836:P534S;ENSP00000265460:P525S;ENSP00000333261:P159S	ENSP00000265460:P525S	P	+	1	0	C11orf9	61301321	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	7.410000	0.80065	2.081000	0.62600	0.313000	0.20887	CCA		0.677	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		T	61544745	C	T	61544745	3	4	58	1	0	0	0	0	1	0	0	0	1671	623	22	3	1669	3	C11orf9	11	61544745	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	658343	61544745	73461771	80	5767											
YAP1	10413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	102098274	102098274	+	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	ctacagtgtccctcgaacccCagatgacttcctgaacagtg	10	9	8	14	1	0	3	0	2	0	1	3	4	2	3	4	0	3	0	4	0	3	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:102098274C>A	ENST00000282441.5	+	8	1626	c.1238C>A	c.(1237-1239)cCa>cAa	p.P413Q	YAP1_ENST00000345877.2_Missense_Mutation_p.P363Q|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000537274.1_Missense_Mutation_p.P401Q|YAP1_ENST00000526343.1_Missense_Mutation_p.P359Q|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000524575.1_Missense_Mutation_p.P235Q|YAP1_ENST00000531439.1_Missense_Mutation_p.P397Q	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	413	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CCTCGAACCCCAGATGACTTC	0.448																																					Colon(50;247 1103 7861 28956)	.											0													190	139	157					11																	102098274		2203	4299	6502	SO:0001583	missense	10413				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1238C>A	11.37:g.102098274C>A	ENSP00000282441:p.Pro413Gln		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	CCDS44716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.054360|4.054360	0.75960|0.75960	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575|ENST00000529029	T;T;T|.	0.66638|.	-0.19;-0.22;-0.05|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76083|0.76083	0.3938|0.3938	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.998;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.991;0.999;0.997;0.994;0.998;0.999|.	T|T	0.75519|0.75519	-0.3289|-0.3289	10|5	0.87932|.	D|.	0|.	.|.	18.9673|18.9673	0.92701|0.92701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	235;330;359;397;413;363|.	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3|.	.;.;.;.;YAP1_HUMAN;.|.	Q|K	359;413;401;363;330;397;235|167	ENSP00000434134:P359Q;ENSP00000331023:P363Q;ENSP00000435602:P235Q|.	ENSP00000282441:P413Q|.	P|Q	+|+	2|1	0|0	YAP1|YAP1	101603484|101603484	1.000000|1.000000	0.71417|0.71417	0.839000|0.839000	0.33178|0.33178	0.456000|0.456000	0.32438|0.32438	7.461000|7.461000	0.80834|0.80834	2.492000|2.492000	0.84095|0.84095	0.650000|0.650000	0.86243|0.86243	CCA|CAG		0.448	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		A	102098274	C	A	102098274	3	1	58	1	0	0	0	0	1	0	0	0	17463	594	21	5	1280	5	YAP1	11	102098274	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	40553529	102098274	32908242	81	5768											
DDI1	414301	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	103908145	103908145	+	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	tgagagagcaagagaggcttCgtctctacacagccgaccca	12	6	11	12	2	1	3	0	1	1	2	3	6	1	3	2	1	3	2	2	1	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:103908145C>T	ENST00000302259.3	+	1	838	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	199							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGAGAGGCTTCGTCTCTACAC	0.512																																						.											0													63	70	67					11																	103908145		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.595C>T	11.37:g.103908145C>T	ENSP00000302805:p.Arg199Cys		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399903	0.25291	.	.	ENSG00000170967	ENST00000302259	T	0.26373	1.74	5.02	4.11	0.48088	.	0.178859	0.47455	N	0.000226	T	0.50154	0.1599	M	0.84326	2.69	0.09310	N	0.999997	D	0.89917	1.0	D	0.65874	0.939	T	0.46414	-0.9193	10	0.66056	D	0.02	-26.6368	11.8166	0.52214	0.0:0.9145:0.0:0.0855	.	199	Q8WTU0	DDI1_HUMAN	C	199	ENSP00000302805:R199C	ENSP00000302805:R199C	R	+	1	0	DDI1	103413355	0.845000	0.29573	0.014000	0.15608	0.012000	0.07955	2.207000	0.42788	1.502000	0.48669	-0.126000	0.14955	CGT		0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		T	103908145	C	T	103908145	3	4	58	1	0	0	0	0	1	0	0	0	4328	884	31	1	597	1	DDI1	11	103908145	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	1809871	103908145	31098371	82	5769											
SLC35F2	54733	broad.mit.edu	37	chr11	107676203	107676204	+	Frame_Shift_Ins	INS	-	-	A																															atggcatagagggaagccccINSaagaaggaccaagatgtcac																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:107676203_107676204insA	ENST00000525815.1	-	5	1032_1033	c.612_613insT	c.(610-615)cttgggfs	p.G205fs	SLC35F2_ENST00000375682.4_Frame_Shift_Ins_p.G158fs|SLC35F2_ENST00000525071.1_Frame_Shift_Ins_p.G205fs|SLC35F2_ENST00000265836.7_Frame_Shift_Ins_p.G57fs|SLC35F2_ENST00000429869.1_Frame_Shift_Ins_p.G205fs	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	205					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		AGGGAAGCCCCAAGAAGGACCA	0.465																																						.											0																																										SO:0001589	frameshift_variant	54733				CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"Solute carriers"	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.613dupT	11.37:g.107676205_107676205dupA	ENSP00000436785:p.Gly205fs		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Frame_Shift_Ins	INS	ENST00000525815.1	37	CCDS41709.1																																																																																				0.465	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		A	107676204	-	A	107676203	7	5	58	1	0	1	1	0	0	0	0	0	14589	594	21	0	527	0	SLC35F2	11	107676203	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	3768058	107676203	27330313	83	5770											
EXPH5	23086	broad.mit.edu	37	chr11	108381019	108381020	+	Frame_Shift_Ins	INS	-	-	G																															aattctgcttccctgaggctINSggtgaatgtgatgggtgatg																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:108381019_108381020insG	ENST00000265843.4	-	6	5324_5325	c.5214_5215insC	c.(5212-5217)accagcfs	p.S1739fs	EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.S1551fs|EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.S1663fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.S1732fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1739					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)		TCCCTGAGGCTGGTGAATGTGA	0.49																																						.											0																																										SO:0001589	frameshift_variant	23086				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.5215dupC	11.37:g.108381021_108381021dupG	ENSP00000265843:p.Ser1739fs		Q2KHM1|Q9Y4D6	Frame_Shift_Ins	INS	ENST00000265843.4	37	CCDS8341.1																																																																																				0.49	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		G	108381020	-	G	108381019	7	5	58	1	0	1	1	0	0	0	0	0	5322	1580	55	0	758	0	EXPH5	11	108381019	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	704816	108381019	26625497	84	5771											
POU2F3	25833	broad.mit.edu	37	chr11	120173026	120173026	+	Frame_Shift_Del	DEL	G	G	-																															aatctcctcccctttccacaGcaacaaagcggtctcctcct																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:120173026delG	ENST00000543440.2	+	6	543	c.393delG	c.(391-393)cagfs	p.Q133fs	POU2F3_ENST00000260264.4_Frame_Shift_Del_p.Q135fs	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	133					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)		CCTTTCCACAGCAACAAAGCG	0.512											OREG0021420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													153	129	137					11																	120173026		2203	4300	6503	SO:0001589	frameshift_variant	25833			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.393delG	11.37:g.120173026delG	ENSP00000441687:p.Gln133fs	1501	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Frame_Shift_Del	DEL	ENST00000543440.2	37	CCDS8431.1																																																																																				0.512	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			-	120173026	G	-	120173026	7	5	58	1	0	1	0	1	0	0	0	0	12273	962	34	0	415	0	POU2F3	11	120173026	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	11792007	120173026	14833490	85	5772											
ST14	6768	broad.mit.edu	37	chr11	130079400	130079401	+	Frame_Shift_Ins	INS	-	-	C																															aaccagaccacctgcgagaaINScctcctgccgcagcagatca																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:130079400_130079401insC	ENST00000278742.5	+	18	2751_2752	c.2333_2334insC	c.(2332-2337)aacctcfs	p.L779fs		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	779	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	ACCTGCGAGAACCTCCTGCCGC	0.698																																						.											0																																										SO:0001589	frameshift_variant	6768			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.2335dupC	11.37:g.130079402_130079402dupC	ENSP00000278742:p.Leu779fs		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Frame_Shift_Ins	INS	ENST00000278742.5	37	CCDS8487.1																																																																																				0.698	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			C	130079401	-	C	130079400	7	5	58	1	0	1	1	0	0	0	0	0	15210	43	2	0	2403	0	ST14	11	130079400	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	9906374	130079400	4927116	86	5773											
LST-3TM12	338821	broad.mit.edu;mdanderson.org	37	chr12	21242950	21242950	+	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	catggaaaggataccaaagtAttagaaaatgaaagacaagt	21	7	9	4	0	0	3	0	1	0	2	0	5	0	5	1	2	1	1	1	2	9	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:21242950A>G	ENST00000421593.2	+	13	1833	c.1833A>G	c.(1831-1833)gtA>gtG	p.V611V	RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.V658V|LST3_ENST00000381541.3_Silent_p.V658V|SLCO1B3_ENST00000553473.1_Silent_p.V719V|LST3_ENST00000540229.1_Silent_p.V719V	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	611						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATACCAAAGTATTAGAAAATG	0.328																																						.											0													49	52	51					12																	21242950		2038	4228	6266	SO:0001819	synonymous_variant	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1833A>G	12.37:g.21242950A>G			Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																				0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		G	21242950	A	G	21242950	2	3	58	1	0	0	0	0	0	0	0	1	9066	436	16	4		4	LST-3TM12	12	21242950	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10		21242950	112608945	87	5774											
E2F7	144455	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr12	77419483	77419483	+	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	ggtctgcagaagggagtgtgGacgactttggattaaccaca	11	9	14	7	1	1	1	0	0	1	1	1	5	1	4	1	4	2	1	1	4	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:77419483G>A	ENST00000322886.7	-	12	2655	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	807					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						AGGGAGTGTGGACGACTTTGG	0.537																																						.											0													148	132	137					12																	77419483		2203	4300	6503	SO:0001583	missense	144455			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.2420C>T	12.37:g.77419483G>A	ENSP00000323246:p.Ser807Phe		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145117	0.37825	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.22336	1.96	5.91	5.03	0.67393	.	0.134260	0.51477	D	0.000082	T	0.15912	0.0383	N	0.19112	0.55	0.47511	D	0.999448	P	0.44627	0.839	B	0.41723	0.365	T	0.02676	-1.1125	10	0.62326	D	0.03	-5.9471	12.4126	0.55476	0.0769:0.0:0.9231:0.0	.	807	Q96AV8	E2F7_HUMAN	F	807;278	ENSP00000323246:S807F	ENSP00000323246:S807F	S	-	2	0	E2F7	75943614	0.950000	0.32346	0.031000	0.17742	0.913000	0.54294	4.727000	0.61993	1.524000	0.49035	0.650000	0.86243	TCC		0.537	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		A	77419483	G	A	77419483	3	1	58	1	0	0	0	0	1	0	0	0	4872	1174	41	3	323	3	E2F7	12	77419483	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	56176533	77419483	56432412	88	5775											
MYBPC1	4604	mdanderson.org;bcgsc.ca	37	chr12	102043096	102043096	+	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	caagataccgaattagagttGagggtaaaaaacacatcttg	17	9	9	6	1	1	3	0	1	1	2	1	4	1	3	1	1	2	2	1	1	7	5			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:102043096G>T	ENST00000550270.1	+	13	1180	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E295*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E375*|MYBPC1_ENST00000549145.1_Nonsense_Mutation_p.E407*|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E382*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E419*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E380*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E381*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E368*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E419*|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	394	Ig-like C2-type 3.				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						AATTAGAGTTGAGGGTAAAAA	0.353																																						.											0													126	119	122					12																	102043096		2203	4300	6503	SO:0001587	stop_gained	4604				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.1180G>T	12.37:g.102043096G>T	ENSP00000449702:p.Glu394*		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Nonsense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108518	0.94292	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	.	.	.	5.98	5.98	0.97165	.	0.248852	0.27811	N	0.017753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	368;394;394;394;381;380;419;407;394;419;394;375;382;419;295;394	.	ENSP00000353822:E394X	E	+	1	0	MYBPC1	100567227	1.000000	0.71417	0.984000	0.44739	0.079000	0.17450	9.476000	0.97823	2.838000	0.97847	0.591000	0.81541	GAG		0.353	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			T	102043096	G	T	102043096	4	4	58	1	0	0	0	0	0	1	0	0	10011	1291	45	5	1313	5	MYBPC1	12	102043096	Nonsense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	24623613	102043096	31808799	89	5776											
C1QTNF9B	387911	mdanderson.org	37	chr13	24465623	24465623	+	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	gtgtgcagtatttttactccGtttttgaccaaagacacctg	9	15	8	9	1	0	2	0	1	0	1	1	2	1	2	3	0	2	3	3	0	3	6	rs4083570		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:24465623G>A	ENST00000382140.2	-	5	867	c.807C>T	c.(805-807)aaC>aaT	p.N269N	C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.T98M|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.T98M|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382137.3_Silent_p.N269N|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	269	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTTTTACTCCGTTTTTGACCA	0.507																																						.											0													137	117	124					13																	24465623		2203	4300	6503	SO:0001819	synonymous_variant	387911			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.807C>T	13.37:g.24465623G>A			A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.002413	0.00431	.	.	ENSG00000205863	ENST00000382145;ENST00000382057	D;D	0.89343	-2.5;-2.5	3.96	-5.77	0.02369	.	.	.	.	.	D	0.88351	0.6413	.	.	.	0.19945	N	0.999942	.	.	.	.	.	.	T	0.82481	-0.0436	6	0.52906	T	0.07	.	15.0983	0.72253	0.4662:0.0:0.5338:0.0	rs4083570	.	.	.	M	98	ENSP00000371580:T98M;ENSP00000371489:T98M	ENSP00000371489:T98M	T	-	2	0	C1QTNF9B	23363623	0.000000	0.05858	0.269000	0.24586	0.053000	0.15095	-1.610000	0.02064	-1.672000	0.01464	-2.013000	0.00436	ACG		0.507	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		A	24465623	G	A	24465623	2	1	58	1	0	0	0	0	0	0	0	1	1971	1136	40	1		1	C1QTNF9B	13	24465623	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10		24465623	90704255	90	5777											
C13orf36	400120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr13	37269302	37269302	+	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	tttcccacatccctgtccacGtcagtggacccatcctcagg	7	10	7	17	1	2	0	2	0	0	0	6	1	6	1	5	2	0	0	5	2	0	1	rs202230256		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:37269302G>A	ENST00000315190.3	+	2	533	c.87G>A	c.(85-87)acG>acA	p.T29T		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	29						integral component of membrane (GO:0016021)											CCCTGTCCACGTCAGTGGACC	0.478																																						.											0													201	175	183					13																	37269302		2203	4300	6503	SO:0001819	synonymous_variant	400120				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 36"	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.87G>A	13.37:g.37269302G>A			Q8N469	Silent	SNP	ENST00000315190.3	37	CCDS9358.1																																																																																				0.478	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		A	37269302	G	A	37269302	2	1	58	1	0	0	0	0	0	0	0	1	1730	1132	40	1		1	C13orf36	13	37269302	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	12803679	37269302	77900576	91	5778											
FREM2	341640	broad.mit.edu	37	chr13	39266098	39266098	+	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	aagccagtggtcaccatccaCaagctggttgtcagtgaaag	12	8	11	10	0	2	1	2	1	0	0	3	1	3	1	3	2	2	2	3	2	3	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:39266098C>T	ENST00000280481.7	+	1	4833	c.4617C>T	c.(4615-4617)caC>caT	p.H1539H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1539					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)		TCACCATCCACAAGCTGGTTG	0.443																																						.											0													125	113	117					13																	39266098		2203	4300	6503	SO:0001819	synonymous_variant	341640			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.4617C>T	13.37:g.39266098C>T			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39266098	C	T	39266098	2	4	58	1	0	0	0	0	0	0	0	1	6045	477	17	4		4	FREM2	13	39266098	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	1996796	39266098	75903780	92	5779											
SALL2	6297	broad.mit.edu;mdanderson.org	37	chr14	21992203	21992203	+	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	cagcttggtagtgaagtcacCaacttacttagttgcatgcg	10	12	10	9	1	1	1	1	1	0	0	1	1	1	1	1	1	5	4	1	1	5	5			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:21992203C>T	ENST00000327430.3	-	2	1953	c.1659G>A	c.(1657-1659)ttG>ttA	p.L553L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Silent_p.L416L|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	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)			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)		GTGAAGTCACCAACTTACTTA	0.547																																						.											0													113	92	99					14																	21992203		2203	4300	6503	SO:0001819	synonymous_variant	6297			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.1659G>A	14.37:g.21992203C>T			B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119658	0.08881	.	.	ENSG00000165821	ENST00000546363	.	.	.	5.12	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.0876	8.846	0.35170	0.0:0.7491:0.0:0.2509	.	.	.	.	X	412	.	.	W	-	2	0	SALL2	21062043	0.086000	0.21541	1.000000	0.80357	0.948000	0.59901	-0.125000	0.10579	0.203000	0.20529	-0.219000	0.12488	TGG		0.547	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		T	21992203	C	T	21992203	2	4	58	1	0	0	0	0	0	0	0	1	13811	593	21	4		4	SALL2	14	21992203	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10		21992203	85357337	93	5780											
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	45513838	45513838	+	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	cattttgaatttttttttagGtgaaaaatttacgttctgga	11	20	7	3	1	1	2	0	2	1	0	1	3	1	3	0	2	1	1	0	2	5	10			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:45513838G>T	ENST00000361577.3	+	13	4133	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	FAM179B_ENST00000361462.2_Splice_Site_p.V1307L|FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1307										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTTTTTTAGGTGAAAAATTT	0.303																																						.											0													47	49	49					14																	45513838		2202	4300	6502	SO:0001630	splice_region_variant	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3919-1G>T	14.37:g.45513838G>T			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726304	0.89298	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.52754	0.65;0.65	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.966;0.994	D;D	0.70227	0.921;0.968	T	0.68258	-0.5456	9	.	.	.	-12.751	19.6126	0.95616	0.0:0.0:1.0:0.0	.	1307;1307	G3XAE9;Q9Y4F4	.;F179B_HUMAN	L	1307	ENSP00000355045:V1307L;ENSP00000354917:V1307L	.	V	+	1	0	FAM179B	44583588	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.540000	0.98080	2.730000	0.93505	0.650000	0.86243	GTG		0.303	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	Missense_Mutation	T	45513838	G	T	45513838	5	4	58	1	0	0	0	0	0	0	1	0	5506	1275	44	5	3969	5	FAM179B	14	45513838	Splice_Site	SNP	G	TCGA-KO-8408-01A-11D-2310-10	23521635	45513838	61835702	94	5781											
C14orf166	51637	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	52458098	52458098	+	Missense_Mutation	SNP	T	T	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	gaaaatcaggcactacaagaTtgaagacagagggaatttaa	19	7	10	5	0	1	4	1	1	0	3	1	6	1	5	0	2	1	1	0	2	7	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:52458098T>C	ENST00000261700.3	+	2	290	c.125T>C	c.(124-126)aTt>aCt	p.I42T	C14orf166_ENST00000556760.1_Missense_Mutation_p.I42T	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	42					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					CACTACAAGATTGAAGACAGA	0.348																																						.											0													78	78	78					14																	52458098		2203	4300	6503	SO:0001583	missense	51637			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"RLL motif containing 1"	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.125T>C	14.37:g.52458098T>C	ENSP00000261700:p.Ile42Thr			Missense_Mutation	SNP	ENST00000261700.3	37	CCDS9705.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331063	0.81690	.	.	ENSG00000087302	ENST00000261700;ENST00000556760	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.82348	-0.0502	9	0.41790	T	0.15	-6.0145	14.4684	0.67499	0.0:0.0:0.0:1.0	.	42	Q9Y224	CN166_HUMAN	T	42	.	ENSP00000261700:I42T	I	+	2	0	C14orf166	51527848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.701000	0.84566	1.967000	0.57214	0.397000	0.26171	ATT		0.348	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	NM_016039		C	52458098	T	C	52458098	3	2	58	1	0	0	0	0	1	0	0	0	1756	1493	52	4	131	4	C14orf166	14	52458098	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	6944260	52458098	54891442	95	5782											
ADAM21	8747	mdanderson.org	37	chr14	70924566	70924566	+	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	ctatcatggttacgtggaggCagcccctgagtctctggttg	6	12	13	10	1	2	1	1	1	1	0	3	2	2	2	2	4	2	3	2	4	2	3	rs3829452	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:70924566C>G	ENST00000603540.1	+	2	608	c.350C>G	c.(349-351)gCa>gGa	p.A117G	ADAM21_ENST00000267499.3_Missense_Mutation_p.A117G|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	117				A -> G (in Ref. 1; AAD55255 and 3; AAI09025/AAI09026). {ECO:0000305}.	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)	p.A117G(1)		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)		TACGTGGAGGCAGCCCCTGAG	0.488													C|||	1854	0.370208	0.4947	0.2161	5008	,	,		17161	0.5734		0.2207	False		,,,				2504	0.2556					.											1	Substitution - Missense(1)	stomach(1)											93	126	115					14																	70924566		2199	4300	6499	SO:0001583	missense	8747			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.350C>G	14.37:g.70924566C>G	ENSP00000474385:p.Ala117Gly		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	577	0.2641941391941392	150	0.3048780487804878	67	0.1850828729281768	267	0.46678321678321677	93	0.12269129287598944	C	0.001	-2.913798	0.00056	.	.	ENSG00000139985	ENST00000267499	T	0.03689	3.84	3.76	2.86	0.33363	Peptidase M12B, propeptide (1);	0.156559	0.28908	N	0.013758	T	0.00012	0.0000	N	0.00004	-3.32	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44436	-0.9328	9	0.02654	T	1	.	12.0431	0.53464	0.0:0.1746:0.8254:0.0	rs3829452;rs11531313;rs57973896	117	Q9UKJ8	ADA21_HUMAN	G	117	ENSP00000267499:A117G	ENSP00000267499:A117G	A	+	2	0	ADAM21	69994319	0.987000	0.35691	0.013000	0.15412	0.010000	0.07245	2.053000	0.41326	0.922000	0.37019	-0.234000	0.12200	GCA		0.488	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			G	70924566	C	G	70924566	3	3	58	1	0	0	0	0	1	0	0	0	243	710	25	5	352	5	ADAM21	14	70924566	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	18466468	70924566	36424974	96	5783											
TTC7B	145567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr14	91044471	91044471	+	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	agtcgctgcatgctcttcacGtgggtggggctgatggctaa	6	11	15	9	2	2	1	1	1	1	0	3	1	2	1	0	4	2	5	0	4	1	2	rs538193691		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:91044471G>A	ENST00000328459.6	-	19	2410	c.2289C>T	c.(2287-2289)caC>caT	p.H763H	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Silent_p.H780H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	763										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)				TGCTCTTCACGTGGGTGGGGC	0.637													G|||	1	0.000199681	0	0	5008	,	,		18196	0		0.001	False		,,,				2504	0					.											0													62	56	58					14																	91044471		2202	4300	6502	SO:0001819	synonymous_variant	145567			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.2289C>T	14.37:g.91044471G>A			Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348527	0.24426	.	.	ENSG00000165914	ENST00000557292	.	.	.	5.48	-0.267	0.12938	.	.	.	.	.	T	0.56124	0.1964	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50625	-0.8806	4	.	.	.	-21.5179	9.901	0.41348	0.6406:0.0:0.3594:0.0	.	.	.	.	C	191	.	.	R	-	1	0	TTC7B	90114224	0.942000	0.31987	0.998000	0.56505	0.996000	0.88848	0.041000	0.13927	0.030000	0.15379	-0.140000	0.14226	CGT		0.637	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			A	91044471	G	A	91044471	2	1	58	1	0	0	0	0	0	0	0	1	16710	1136	40	1		1	TTC7B	14	91044471	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	20119905	91044471	16305069	97	5784											
GOLGA8A	23015	broad.mit.edu	37	chr15	34678927	34678927	+	Frame_Shift_Del	DEL	A	A	-																															ctgacgcgcatgcagagaggAggaggcggaggaggacttgg																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:34678927delA	ENST00000359187.4	-	3	248	c.184delT	c.(184-186)tccfs	p.S63fs	GOLGA8A_ENST00000360553.3_Frame_Shift_Del_p.S63fs|GOLGA8A_ENST00000543376.1_5'UTR|GOLGA8A_ENST00000432566.2_Frame_Shift_Del_p.S93fs	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	91						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGCAGAGAGGAGGAGGCGGAG	0.567																																						.											0													6	10	9					15																	34678927		1801	3926	5727	SO:0001589	frameshift_variant	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 8A"			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.184delT	15.37:g.34678927delA	ENSP00000352111:p.Ser63fs		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Frame_Shift_Del	DEL	ENST00000359187.4	37	CCDS10038.1																																																																																				0.567	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251830.2	NM_181076		-	34678927	A	-	34678927	7	5	58	1	0	1	0	1	0	0	0	0	6563	304	11	0	1683	0	GOLGA8A	15	34678927	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10		34678927	67852465	98	5785											
FSIP1	161835	broad.mit.edu	37	chr15	40056059	40056059	+	Frame_Shift_Del	DEL	T	T	-																															acagcagtcaaagataaaaaTttttttgtattttccatctc																								rs560347922		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:40056059delT	ENST00000350221.3	-	5	731	c.522delA	c.(520-522)aaafs	p.K174fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	174										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)		AAGATAAAAATTTTTTTGTAT	0.308																																						.											0																																										SO:0001589	frameshift_variant	161835			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.522delA	15.37:g.40056059delT	ENSP00000280236:p.Lys174fs		Q6X2C8|Q86Y89	Frame_Shift_Del	DEL	ENST00000350221.3	37	CCDS10050.1																																																																																				0.308	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		-	40056059	T	-	40056059	7	5	58	1	0	1	0	1	0	0	0	0	6074	1490	52	0	1255	0	FSIP1	15	40056059	Frame_Shift_Del	DEL	T	TCGA-KO-8408-01A-11D-2310-10	5377132	40056059	62475333	99	5786											
EXD1	161829	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr15	41501706	41501706	+	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	aaaaatctttcacctgcagcCagcacagtttgccatggcga	12	9	8	12	1	2	0	1	0	1	0	2	1	2	0	3	1	4	3	3	1	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:41501706C>T	ENST00000314992.5	-	5	543	c.353G>A	c.(352-354)tGg>tAg	p.W118*	EXD1_ENST00000458580.2_Nonsense_Mutation_p.W176*	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	118	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CACCTGCAGCCAGCACAGTTT	0.368																																						.											0													60	56	57					15																	41501706		2203	4300	6503	SO:0001587	stop_gained	161829			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.353G>A	15.37:g.41501706C>T	ENSP00000321029:p.Trp118*		A8K909|B7Z839|Q6ZW94	Nonsense_Mutation	SNP	ENST00000314992.5	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	C	36	5.874195	0.97055	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-19.3436	15.148	0.72674	0.0:1.0:0.0:0.0	.	.	.	.	X	118;176	.	ENSP00000321029:W118X	W	-	2	0	EXD1	39288998	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	4.658000	0.61497	2.642000	0.89623	0.591000	0.81541	TGG		0.368	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		T	41501706	C	T	41501706	4	4	58	1	0	0	0	0	0	1	0	0	5297	595	21	4	1215	4	EXD1	15	41501706	Nonsense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	1445647	41501706	61029686	100	5787											
MAP1A	4130	broad.mit.edu	37	chr15	43821988	43821989	+	Frame_Shift_Ins	INS	-	-	C																															ctatgtggtcagtgggaatgINSaccctgccaatggcgagcca																								rs200714150		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:43821988_43821989insC	ENST00000300231.5	+	5	8626_8627	c.8176_8177insC	c.(8176-8178)gacfs	p.D2726fs	MAP1A_ENST00000382031.1_Frame_Shift_Ins_p.D2964fs|MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.D2726fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2726					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGTGGGAATGACCCTGCCAAT	0.574																																						.											0																																										SO:0001589	frameshift_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	Exception_encountered	15.37:g.43821988_43821989insC	ENSP00000300231:p.Asp2726fs		O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Ins	INS	ENST00000300231.5	37	CCDS42031.1																																																																																				0.574	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		C	43821989	-	C	43821988	7	5	58	1	0	1	1	0	0	0	0	0	9227	1290	45	0	8182	0	MAP1A	15	43821988	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	2320282	43821988	58709404	101	5788											
SNX1	6642	broad.mit.edu	37	chr15	64422451	64422451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaggagaagctccaggagGtagagtgtgaggagcagcgc	11	6	18	6	1	0	4	0	2	0	2	1	7	1	6	1	4	3	3	1	4	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:64422451G>T	ENST00000559844.1	+	10	960	c.946G>T	c.(946-948)Gta>Tta	p.V316L	SNX1_ENST00000353874.4_Missense_Mutation_p.V316L|SNX1_ENST00000261889.5_Missense_Mutation_p.V316L|SNX1_ENST00000560829.1_Missense_Mutation_p.V98L|SNX1_ENST00000561026.1_Missense_Mutation_p.V251L			Q13596	SNX1_HUMAN	sorting nexin 1	316	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCAGGAGGTAGAGTGTGA	0.438																																						.											0													82	78	79					15																	64422451		2203	4300	6503	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.946G>T	15.37:g.64422451G>T	ENSP00000453785:p.Val316Leu		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673595	0.47781	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.27720	1.65	4.7	3.75	0.43078	Vps5 C-terminal (1);	0.058522	0.64402	D	0.000002	T	0.21468	0.0517	N	0.25332	0.735	0.80722	D	1	B;P;B;B;P;B;B	0.38250	0.228;0.624;0.031;0.031;0.57;0.001;0.031	B;B;B;B;B;B;B	0.43445	0.363;0.42;0.101;0.101;0.295;0.005;0.055	T	0.04320	-1.0960	10	0.02654	T	1	-8.8677	10.6197	0.45472	0.1015:0.0:0.8984:0.0	.	316;226;316;316;251;316;316	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	L	316;316;251	ENSP00000326668:V316L	ENSP00000261889:V251L	V	+	1	0	SNX1	62209504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.729000	0.54999	1.234000	0.43709	0.561000	0.74099	GTA		0.438	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		T	64422451	G	T	64422451	3	4	58	1	0	0	0	0	1	0	0	0	14880	1261	44	5	984	5	SNX1	15	64422451	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	20600463	64422451	38108941	102	5789											
IQCH	64799	mdanderson.org;bcgsc.ca	37	chr15	67652191	67652191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcttcattgtaggggaaaAgcagaaggtcaagaggacat	15	9	12	5	0	3	2	2	0	1	2	3	4	3	4	0	4	1	2	0	4	5	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:67652191A>G	ENST00000335894.4	+	8	787	c.721A>G	c.(721-723)Agc>Ggc	p.S241G	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Missense_Mutation_p.S68G	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	241										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GTAGGGGAAAAGCAGAAGGTC	0.433																																						.											0													251	231	238					15																	67652191		2201	4299	6500	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.721A>G	15.37:g.67652191A>G	ENSP00000336861:p.Ser241Gly		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	A	8.174	0.792329	0.16258	.	.	ENSG00000103599	ENST00000358767;ENST00000335894	T;T	0.44881	0.93;0.91	5.78	1.15	0.20763	.	0.874228	0.10119	N	0.713657	T	0.14098	0.0341	N	0.01800	-0.715	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.21449	-1.0245	10	0.15499	T	0.54	-2.7848	3.3911	0.07289	0.3785:0.2017:0.4198:0.0	.	241;68	Q86VS3;Q86VS3-3	IQCH_HUMAN;.	G	68;241	ENSP00000351617:S68G;ENSP00000336861:S241G	ENSP00000336861:S241G	S	+	1	0	IQCH	65439245	0.877000	0.30153	0.989000	0.46669	0.949000	0.60115	-0.378000	0.07446	0.330000	0.23485	-0.242000	0.12053	AGC		0.433	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		G	67652191	A	G	67652191	3	3	58	1	0	0	0	0	1	0	0	0	7811	72	3	2	879	2	IQCH	15	67652191	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	3229740	67652191	34879201	103	5790											
GOLGA6B	55889	broad.mit.edu;mdanderson.org	37	chr15	72954855	72954855	+	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	aacgagaggcttcgggagcaGcagaagacgctacaggagca	14	3	15	9	3	0	3	0	0	0	3	1	6	0	5	0	3	5	5	0	3	3	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:72954855G>A	ENST00000421285.3	+	11	1110	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	370						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TTCGGGAGCAGCAGAAGACGC	0.592																																						.											0													16	18	17					15																	72954855		1441	2844	4285	SO:0001819	synonymous_variant	55889				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.1110G>A	15.37:g.72954855G>A			A8MYY7	Silent	SNP	ENST00000421285.3	37	CCDS10245.2																																																																																				0.592	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		A	72954855	G	A	72954855	2	1	58	1	0	0	0	0	0	0	0	1	6558	962	34	4		4	GOLGA6B	15	72954855	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	5302664	72954855	29576537	104	5791											
SYNM	23336	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	99671287	99671287	+	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	acctgggttccactcactggAaagaacaagctagaagcggt	13	7	11	10	1	1	2	1	0	0	2	2	3	2	3	2	3	3	2	2	3	5	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:99671287A>T	ENST00000560674.1	+	4	2333	c.1864A>T	c.(1864-1866)Aaa>Taa	p.K622*	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Nonsense_Mutation_p.K907*|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Nonsense_Mutation_p.K907*			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	908	Tail.				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						CACTCACTGGAAAGAACAAGC	0.522																																					Pancreas(125;1071 1762 21750 40003 40381)	.											0													35	38	37					15																	99671287		1929	4138	6067	SO:0001587	stop_gained	23336			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.1864A>T	15.37:g.99671287A>T	ENSP00000453040:p.Lys622*		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	A	41	8.928228	0.99006	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2654	0.73657	1.0:0.0:0.0:0.0	.	.	.	.	X	907	.	ENSP00000330469:K907X	K	+	1	0	SYNM	97488810	0.962000	0.33011	0.908000	0.35775	0.898000	0.52572	2.395000	0.44459	2.191000	0.70037	0.533000	0.62120	AAA		0.522	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		T	99671287	A	T	99671287	4	4	58	1	0	0	0	0	0	1	0	0	15452	247	9	5	2735	5	SYNM	15	99671287	Nonsense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	26716432	99671287	2860105	105	5792											
VASN	114990	mdanderson.org	37	chr16	4431373	4431373	+	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	gagctgcgggcactgcccccGctgcgcctgccccgcctgct	2	6	13	20	4	0	0	0	0	0	0	0	1	0	0	6	1	6	4	6	1	0	0	rs740374	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:4431373G>C	ENST00000304735.3	+	2	650	c.495G>C	c.(493-495)ccG>ccC	p.P165P	CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	165				Missing (in Ref. 2; AAQ88665). {ECO:0000305}.	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						CACTGCCCCCGCTGCGCCTGC	0.697													G|||	66	0.0131789	8e-04	0.0202	5008	,	,		13608	0		0.0358	False		,,,				2504	0.0153					.											0								G	,,,,	25,4267		0,25,2121	12	9	10		,,,,495	-11.6	0	16	dbSNP_86	10	191,8271		1,189,4041	no	intron,intron,intron,intron,coding-synonymous	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,	1,214,6162	CC,CG,GG		2.2571,0.5825,1.6936	,,,,	,,,,165/674	4431373	216,12538	2146	4231	6377	SO:0001819	synonymous_variant	114990			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.495G>C	16.37:g.4431373G>C			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																				0.697	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		C	4431373	G	C	4431373	2	2	58	1	0	0	0	0	0	0	0	1	17124	1074	38	5		5	VASN	16	4431373	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10		4431373	85923380	106	5793											
XPO6	23214	broad.mit.edu	37	chr16	28128693	28128693	+	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	gtagtagagatgagtgtcacGaactgctgcgtgttctgccg	8	11	14	8	3	2	2	1	1	1	1	2	4	2	2	1	0	4	4	1	0	3	3	rs372282404		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:28128693G>A	ENST00000304658.5	-	15	2450	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	XPO6_ENST00000565698.1_Silent_p.F636F	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	650					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGAGTGTCACGAACTGCTGCG	0.502																																						.											0								G		0,4084		0,0,2042	233	224	227		1950	-8.2	0.4	16		227	1,8375		0,1,4187	no	coding-synonymous	XPO6	NM_015171.2		0,1,6229	AA,AG,GG		0.0119,0.0,0.0080		650/1126	28128693	1,12459	2042	4188	6230	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1950C>T	16.37:g.28128693G>A			A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.502	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28128693	G	A	28128693	2	1	58	1	0	0	0	0	0	0	0	1	17445	1049	37	1		1	XPO6	16	28128693	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	23697320	28128693	62226060	107	5794											
RBL2	5934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr16	53493465	53493465	+	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	cagctacgcatagcttgagtCgtcttcacaccatgctgaca	10	10	8	13	2	2	2	1	2	1	0	3	2	2	2	1	0	4	4	1	0	2	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:53493465C>T	ENST00000262133.6	+	9	1419	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.R212C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	428	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						TAGCTTGAGTCGTCTTCACAC	0.458																																						.											0													95	83	87					16																	53493465		2198	4300	6498	SO:0001583	missense	5934			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.1282C>T	16.37:g.53493465C>T	ENSP00000262133:p.Arg428Cys		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410944	0.83340	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.88509	-2.39;-2.39;-2.39	6.04	6.04	0.98038	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.982;0.95	D	0.94740	0.7918	10	0.87932	D	0	-15.4524	20.5948	0.99439	0.0:1.0:0.0:0.0	.	212;428;138;428	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	C	428;354;138;212	ENSP00000262133:R428C;ENSP00000443744:R354C;ENSP00000444685:R212C	ENSP00000262133:R428C	R	+	1	0	RBL2	52050966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.873000	0.98535	0.563000	0.77884	CGT		0.458	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		T	53493465	C	T	53493465	3	4	58	1	0	0	0	0	1	0	0	0	13110	884	31	1	1316	1	RBL2	16	53493465	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	25364772	53493465	36861288	108	5795											
GPR56	9289	broad.mit.edu	37	chr16	57697474	57697474	+	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	tccccatcagctcgggcagcAcctcgtccagccgcatctag	7	7	9	18	3	2	0	1	0	1	0	6	0	4	0	5	1	3	4	5	1	1	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:57697474A>C	ENST00000388812.4	+	14	2502	c.2062A>C	c.(2062-2064)Acc>Ccc	p.T688P	GPR56_ENST00000562631.1_Missense_Mutation_p.T682P|GPR56_ENST00000456916.1_Missense_Mutation_p.T688P|GPR56_ENST00000379694.4_Missense_Mutation_p.T518P|GPR56_ENST00000568908.1_Missense_Mutation_p.T682P|GPR56_ENST00000388813.5_Missense_Mutation_p.T682P|GPR56_ENST00000567835.1_Missense_Mutation_p.T688P|GPR56_ENST00000562558.1_Missense_Mutation_p.T682P|GPR56_ENST00000568909.1_Missense_Mutation_p.T688P|GPR56_ENST00000540164.2_Missense_Mutation_p.T682P|GPR56_ENST00000538815.1_Missense_Mutation_p.T682P|GPR56_ENST00000379696.3_Missense_Mutation_p.T688P|GPR56_ENST00000544297.1_Missense_Mutation_p.T507P			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	688					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTCGGGCAGCACCTCGTCCAG	0.672																																						.											0													52	52	52					16																	57697474		2198	4300	6498	SO:0001583	missense	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.2062A>C	16.37:g.57697474A>C	ENSP00000373464:p.Thr688Pro		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098377	0.56183	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.51071	0.72;0.73;0.72;0.73;0.72;1.66;1.1;0.73	4.79	4.79	0.61399	.	0.117908	0.37715	N	0.001978	T	0.53077	0.1774	N	0.24115	0.695	0.30860	N	0.733618	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.85130	0.997;0.994;0.973;0.994	T	0.58239	-0.7671	10	0.62326	D	0.03	.	11.6826	0.51466	1.0:0.0:0.0:0.0	.	507;687;682;688	F5H144;B4DR54;Q9Y653-2;Q9Y653	.;.;.;GPR56_HUMAN	P	682;688;682;688;682;507;518;688	ENSP00000373465:T682P;ENSP00000373464:T688P;ENSP00000444415:T682P;ENSP00000398034:T688P;ENSP00000444911:T682P;ENSP00000438006:T507P;ENSP00000369016:T518P;ENSP00000369018:T688P	ENSP00000369016:T518P	T	+	1	0	GPR56	56254975	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	4.852000	0.62904	1.797000	0.52628	0.402000	0.26972	ACC		0.672	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			C	57697474	A	C	57697474	3	2	58	1	0	0	0	0	1	0	0	0	6700	159	6	5	2127	5	GPR56	16	57697474	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	4204009	57697474	32657279	109	5796											
MMP15	4324	broad.mit.edu	37	chr16	58075623	58075624	+	Frame_Shift_Del	DEL	CA	CA	-																															gccccggcctccccagccacCacccccaggtgggaagccag																								rs551320756	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:58075623_58075624delCA	ENST00000219271.3	+	6	1798_1799	c.1013_1014delCA	c.(1012-1014)ccafs	p.P340fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	340	Poly-Pro.				cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CCCCAGCCACCACCCCCAGGTG	0.743																																						.											0										60,4042		9,42,2000						2.5	1			10	42,7928		13,16,3956	no	frameshift	MMP15	NM_002428.2		22,58,5956	A1A1,A1R,RR		0.527,1.4627,0.8449				102,11970				SO:0001589	frameshift_variant	4324			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1013_1014delCA	16.37:g.58075623_58075624delCA	ENSP00000219271:p.Pro340fs		A0A2U6|Q14111	Frame_Shift_Del	DEL	ENST00000219271.3	37	CCDS10792.1																																																																																				0.743	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		-	58075624	CA	-	58075623	7	5	58	1	0	1	0	1	0	0	0	0	9654	594	21	0	1035	0	MMP15	16	58075623	Frame_Shift_Del	DEL	CA	TCGA-KO-8408-01A-11D-2310-10	378149	58075623	32279130	110	5797	152	2									
MMP15	4324	broad.mit.edu	37	chr16	58075631	58075631	+	Frame_Shift_Del	DEL	G	G	-																															ctccccagccaccacccccaGgtgggaagccagagcggccc																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:58075631delG	ENST00000219271.3	+	6	1806	c.1021delG	c.(1021-1023)ggtfs	p.G342fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	342					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	ACCACCCCCAGGTGGGAAGCC	0.741																																						.											0													10	12	11					16																	58075631		2140	4221	6361	SO:0001589	frameshift_variant	4324			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1021delG	16.37:g.58075631delG	ENSP00000219271:p.Gly342fs		A0A2U6|Q14111	Frame_Shift_Del	DEL	ENST00000219271.3	37	CCDS10792.1																																																																																				0.741	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		-	58075631	G	-	58075631	7	5	58	1	0	1	0	1	0	0	0	0	9654	1000	35	0	1043	0	MMP15	16	58075631	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	8	58075631	32279122	111	5798	152	2									
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	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	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	5	11	14	1	2	1	2	0	0	1	2	2	2	1	4	3	2	4	4	3	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	GRCh37	CS071266	TP53	S							80	75	77					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	7157	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;	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.672+1G>T	17.37:g.7578176C>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578176	C	A	7578176	5	1	58	1	0	0	0	0	0	0	1	0	16378	521	18	5	621	5	TP53	17	7578176	Splice_Site	SNP	C	TCGA-KO-8408-01A-11D-2310-10		7578176	73617034	112	5799											
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	chr17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-																															ttaccagaacgttgttttcaGgaagtctgaaagacaagagc																								rs397516438		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7579716delG	ENST00000269305.4	-	3	269	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs	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	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)	GTTGTTTTCAGGAAGTCTGAA	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	15	Whole gene deletion(8)|Deletion - Frameshift(7)	large_intestine(5)|bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											42	42	42					17																	7579716		2203	4300	6503	SO:0001589	frameshift_variant	7157	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;	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.80delC	17.37:g.7579716delG	ENSP00000269305:p.Pro27fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579716	G	-	7579716	7	5	58	1	0	1	0	1	0	0	0	0	16378	1000	35	0	1226	0	TP53	17	7579716	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	1540	7579716	73615494	113	5800	153	2									
TP53	7157	bcgsc.ca	37	chr17	7579717	7579717	+	Frame_Shift_Del	DEL	G	G	-																															taccagaacgttgttttcagGaagtctgaaagacaagagca																								rs397516438		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7579717delG	ENST00000269305.4	-	3	268	c.79delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs	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	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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.P27fs*17(2)|p.P13fs*18(1)|p.L26fs*11(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)	TTGTTTTCAGGAAGTCTGAAA	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	12	Whole gene deletion(8)|Deletion - Frameshift(4)	bone(4)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											42	42	42					17																	7579717		2203	4300	6503	SO:0001589	frameshift_variant	7157	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;	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.79delC	17.37:g.7579717delG	ENSP00000269305:p.Pro27fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579717	G	-	7579717	7	5	58	1	0	1	0	1	0	0	0	0	16378	1174	41	0	1227	0	TP53	17	7579717	Frame_Shift_Del	DEL	G	TCGA-KO-8408-01A-11D-2310-10	1	7579717	73615493	114	5801	153	2									
KRT38	8687	mdanderson.org	37	chr17	39595537	39595537	+	Missense_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	ggtcggccttggccagggtcGcatcatccaggagcttctgt	5	10	14	12	2	2	0	1	0	1	0	5	1	3	1	3	5	1	2	3	5	0	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39595537G>A	ENST00000246646.3	-	3	649	c.650C>T	c.(649-651)gCg>gTg	p.A217V		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	217	Coil 1B.|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)				GGCCAGGGTCGCATCATCCAG	0.637																																						.											0													83	75	78					17																	39595537		2203	4300	6503	SO:0001583	missense	8687			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.650C>T	17.37:g.39595537G>A	ENSP00000246646:p.Ala217Val		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928753	0.34002	.	.	ENSG00000171360	ENST00000246646	D	0.90004	-2.6	4.31	3.11	0.35812	Filament (1);	1.672080	0.04241	N	0.336988	D	0.85961	0.5819	L	0.45051	1.395	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.71217	-0.4658	10	0.72032	D	0.01	.	7.6159	0.28158	0.8792:0.0:0.1208:0.0	.	217	O76015	KRT38_HUMAN	V	217	ENSP00000246646:A217V	ENSP00000246646:A217V	A	-	2	0	KRT38	36849063	0.044000	0.20184	0.710000	0.30468	0.780000	0.44128	3.320000	0.51991	0.590000	0.29694	0.484000	0.47621	GCG		0.637	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		A	39595537	G	A	39595537	3	1	58	1	0	0	0	0	1	0	0	0	8475	1087	38	1	740	1	KRT38	17	39595537	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	32015820	39595537	41599673	115	5802											
KRT32	3882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	39623194	39623194	+	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	tgggagtgagaggcctcttgGatcctgctctccagctccgc	5	10	13	13	1	2	1	0	1	2	1	5	4	4	3	4	3	2	2	4	3	0	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39623194G>A	ENST00000225899.3	-	1	487	c.384C>T	c.(382-384)atC>atT	p.I128I	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	128	Coil 1A.|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)				AGGCCTCTTGGATCCTGCTCT	0.582																																						.											0													111	98	102					17																	39623194		2203	4300	6503	SO:0001819	synonymous_variant	3882			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.384C>T	17.37:g.39623194G>A				Silent	SNP	ENST00000225899.3	37	CCDS11393.1																																																																																				0.582	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		A	39623194	G	A	39623194	2	1	58	1	0	0	0	0	0	0	0	1	8468	1164	41	3		3	KRT32	17	39623194	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	27657	39623194	41572016	116	5803											
KRT19	3880	mdanderson.org	37	chr17	39684321	39684321	+	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	cgccgtagccgccgccgtagGcccccgaggaggacgaggac	7	2	16	16	7	0	0	0	0	0	0	0	5	0	3	6	4	1	2	6	4	2	2	rs4602	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39684321G>C	ENST00000361566.3	-	1	239	c.179C>G	c.(178-180)gCc>gGc	p.A60G		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	60	Head.		A -> G (in dbSNP:rs4602). {ECO:0000269|PubMed:10623642, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21269460, ECO:0000269|PubMed:2447559, ECO:0000269|PubMed:2448790, ECO:0000269|PubMed:2469734}.		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)				GCCGCCGTAGGCCCCCGAGGA	0.726													C|||	3746	0.748003	0.6445	0.7896	5008	,	,		12585	0.9187		0.6471	False		,,,				2504	0.7863					.											0								C	GLY/ALA	2720,1596		894,932,332	17	23	21		179	4.4	1	17	dbSNP_52	21	5361,3111		1756,1849,631	no	missense	KRT19	NM_002276.4	60	2650,2781,963	CC,CG,GG		36.721,36.9787,36.8079		60/401	39684321	8081,4707	2158	4236	6394	SO:0001583	missense	3880				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.179C>G	17.37:g.39684321G>C	ENSP00000355124:p.Ala60Gly		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	CCDS11399.1	1594	0.7298534798534798	313	0.6361788617886179	269	0.7430939226519337	533	0.9318181818181818	479	0.6319261213720316	C	2.730	-0.264716	0.05754	0.630213	0.63279	ENSG00000171345	ENST00000361566;ENST00000455635	T;T	0.81330	-1.48;-1.07	4.39	4.39	0.52855	.	0.426572	0.19926	N	0.102967	T	0.00012	0.0000	N	0.00237	-1.79	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.40040	-0.9584	9	0.13853	T	0.58	.	14.8587	0.70362	0.0:0.8554:0.1446:0.0	rs4602;rs3188663;rs16967073;rs17856215;rs58113253	60	P08727	K1C19_HUMAN	G	60	ENSP00000355124:A60G;ENSP00000408759:A60G	ENSP00000355124:A60G	A	-	2	0	KRT19	36937847	0.005000	0.15991	1.000000	0.80357	0.129000	0.20672	0.256000	0.18351	1.213000	0.43380	-0.216000	0.12614	GCC		0.726	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		C	39684321	G	C	39684321	3	2	58	1	0	0	0	0	1	0	0	0	8456	1203	42	5	1047	5	KRT19	17	39684321	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	61127	39684321	41510889	117	5804											
ACLY	47	hgsc.bcm.edu;ucsc.edu	37	chr17	40049426	40049426	+	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	ctgaagagggtggtgctcttTcctggtgggcaaagacacag	9	9	15	8	0	1	3	0	1	1	2	2	3	2	3	1	4	1	2	1	4	2	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:40049426T>C	ENST00000352035.2	-	15	1591	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G	ACLY_ENST00000353196.1_Splice_Site_p.G477G|ACLY_ENST00000537919.1_Splice_Site_p.G216G|ACLY_ENST00000590151.1_Splice_Site_p.G487G|ACLY_ENST00000393896.2_Splice_Site_p.G477G	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	487					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)				TGGTGCTCTTTCCTGGTGGGC	0.627																																					Colon(64;807 1396 15971 30971)	.											0													82	77	79					17																	40049426		2203	4300	6503	SO:0001630	splice_region_variant	47			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.1460-1A>G	17.37:g.40049426T>C			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	CCDS11412.1																																																																																				0.627	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Silent	C	40049426	T	C	40049426	5	2	58	1	0	0	0	0	0	0	1	0	143	1797	62	4	1904	4	ACLY	17	40049426	Splice_Site	SNP	T	TCGA-KO-8408-01A-11D-2310-10	365105	40049426	41145784	118	5805											
CDC27	996	mdanderson.org	37	chr17	45234650	45234650	+	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	tcaggctgtctgtgagataaActatgattaggtacttgtgt	10	15	11	5	0	2	2	1	2	1	1	2	3	2	2	0	2	2	2	0	2	5	5			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:45234650A>G	ENST00000066544.3	-	6	669	c.576T>C	c.(574-576)agT>agC	p.S192S	CDC27_ENST00000527547.1_Silent_p.S192S|CDC27_ENST00000446365.2_Silent_p.S131S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Silent_p.S192S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	192					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						TGTGAGATAAACTATGATTAG	0.373																																						.											0													67	67	67					17																	45234650		2203	4300	6503	SO:0001819	synonymous_variant	996			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.576T>C	17.37:g.45234650A>G			G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																				0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			G	45234650	A	G	45234650	2	3	58	1	0	0	0	0	0	0	0	1	3066	40	2	2		2	CDC27	17	45234650	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10	5185224	45234650	35960560	119	5806											
CCDC45	90799	ucsc.edu;bcgsc.ca	37	chr17	62521946	62521946	+	Missense_Mutation	SNP	T	T	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	taaaggcagcaaatgggaagTatatccagctcaggtccaag	15	7	11	8	0	1	0	1	0	0	0	3	1	3	1	2	3	2	4	2	3	7	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:62521946T>C	ENST00000556440.2	+	9	1478	c.968T>C	c.(967-969)gTa>gCa	p.V323A	CEP95_ENST00000553412.1_Missense_Mutation_p.V159A	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	323						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAATGGGAAGTATATCCAGCT	0.383																																						.											0													72	70	70					17																	62521946		1846	4097	5943	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.968T>C	17.37:g.62521946T>C	ENSP00000450461:p.Val323Ala		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375115	0.24857	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.36878	1.23;1.23	5.1	-4.85	0.03142	.	1.411470	0.03847	N	0.271690	T	0.20373	0.0490	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18777	-1.0326	10	0.16420	T	0.52	3.826	7.8451	0.29421	0.1351:0.5551:0.0:0.3097	.	323	Q96GE4	CEP95_HUMAN	A	258;323;159	ENSP00000450461:V323A;ENSP00000450906:V159A	ENSP00000438458:V258A	V	+	2	0	CEP95	59952408	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.385000	0.07379	-0.677000	0.05231	-1.069000	0.02264	GTA		0.383	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		C	62521946	T	C	62521946	3	2	58	1	0	0	0	0	1	0	0	0	2816	1638	57	2	1002	2	CCDC45	17	62521946	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	17287296	62521946	18673264	120	5807											
ZNF516	9658	broad.mit.edu	37	chr18	74153725	74153726	+	Frame_Shift_Ins	INS	-	-	C																															cttgaggtactcggccggctINScggccaccttaccccgcgtg																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr18:74153725_74153726insC	ENST00000443185.2	-	3	1602_1603	c.1285_1286insG	c.(1285-1287)gagfs	p.E429fs	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	429					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)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTCGGCCGGCTCGGCCACCTTA	0.713																																						.											0																																										SO:0001589	frameshift_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1286dupG	18.37:g.74153726_74153726dupC	ENSP00000394757:p.Glu429fs			Frame_Shift_Ins	INS	ENST00000443185.2	37																																																																																					0.713	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		C	74153726	-	C	74153725	7	5	58	1	0	1	1	0	0	0	0	0	17957	1551	54	0	2226	0	ZNF516	18	74153725	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10		74153725	3923523	121	5808											
ABCA7	10347	mdanderson.org	37	chr19	1047002	1047002	+	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	cccttcctgctcagcgccgcActgctggttctggtgctcaa	4	11	10	16	2	3	0	2	0	1	0	4	0	4	0	3	2	4	5	3	2	1	2	rs3752234	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1047002A>G	ENST00000263094.6	+	14	2055	c.1824A>G	c.(1822-1824)gcA>gcG	p.A608A	ABCA7_ENST00000435683.2_Silent_p.A470A|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Silent_p.A608A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	608					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)		TCAGCGCCGCACTGCTGGTTC	0.726													G|||	2899	0.578874	0.4637	0.7104	5008	,	,		13766	0.75		0.5199	False		,,,				2504	0.5256					.											0										2219,2141		606,1007,567	14	13	13		1824	-2.7	0.3	19	dbSNP_107	13	4663,3873		1348,1967,953	no	coding-synonymous	ABCA7	NM_019112.3		1954,2974,1520	GG,GA,AA		45.3725,49.1055,46.6346		608/2147	1047002	6882,6014	2180	4268	6448	SO:0001819	synonymous_variant	10347			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.1824A>G	19.37:g.1047002A>G			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																				0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		G	1047002	A	G	1047002	2	3	58	1	0	0	0	0	0	0	0	1	37	146	6	2		2	ABCA7	19	1047002	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10		1047002	58081981	122	5809											
HMHA1	23526	mdanderson.org	37	chr19	1081617	1081617	+	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	tgcgggcacaagaagctgcaAggccgcctgcagctgttcgg	8	6	15	12	3	0	1	0	0	0	1	1	1	0	1	2	3	5	6	2	3	3	1	rs10404947	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1081617A>G	ENST00000313093.2	+	18	2490	c.2259A>G	c.(2257-2259)caA>caG	p.Q753Q	HMHA1_ENST00000590214.1_Silent_p.Q780Q|HMHA1_ENST00000543365.1_Silent_p.Q636Q|HMHA1_ENST00000536472.1_Silent_p.Q621Q|HMHA1_ENST00000539243.2_Silent_p.Q769Q|HMHA1_ENST00000586866.1_Silent_p.Q757Q|HMHA1_ENST00000590577.1_Silent_p.Q388Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	753					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)		AGAAGCTGCAAGGCCGCCTGC	0.667													g|||	3807	0.760184	0.8079	0.8718	5008	,	,		13576	0.6607		0.7783	False		,,,				2504	0.7004					.											0										3437,847		1403,631,108	6	7	7		2259	2.2	1	19	dbSNP_119	7	6717,1707		2727,1263,222	no	coding-synonymous	HMHA1	NM_012292.2		4130,1894,330	GG,GA,AA		20.2635,19.7712,20.0976		753/1137	1081617	10154,2554	2142	4212	6354	SO:0001819	synonymous_variant	23526			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.2259A>G	19.37:g.1081617A>G			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																				0.667	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			G	1081617	A	G	1081617	2	3	58	1	0	0	0	0	0	0	0	1	7240	69	3	2		2	HMHA1	19	1081617	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10	34615	1081617	58047366	123	5810											
ADAT3	113179	mdanderson.org	37	chr19	1912251	1912251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgcgcccgtcctggacAagcgccagacctcacgcctc	7	4	10	20	6	1	1	1	0	0	1	3	2	2	2	6	1	1	0	6	1	1	0	rs150715312	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1912251A>G	ENST00000602400.1	+	2	385	c.157A>G	c.(157-159)Aag>Gag	p.K53E	ADAT3_ENST00000329478.2_Missense_Mutation_p.K69E|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	53					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		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)		CGTCCTGGACAAGCGCCAGAC	0.731													A|||	14	0.00279553	8e-04	0.0072	5008	,	,		11791	0		0.008	False		,,,				2504	0					.											0								A	,GLU/LYS	19,4335		0,19,2158	12	13	13		,157	3.8	0.9	19	dbSNP_134	13	144,8388		0,144,4122	yes	intron,missense	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,56	0,163,6280	GG,GA,AA		1.6878,0.4364,1.2649	,probably-damaging	,53/352	1912251	163,12723	2177	4266	6443	SO:0001583	missense	113179			BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.157A>G	19.37:g.1912251A>G	ENSP00000473571:p.Lys53Glu			Missense_Mutation	SNP	ENST00000602400.1	37		9	0.004120879120879121	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	a	15.08	2.726322	0.48833	0.004364	0.016878	ENSG00000213638	ENST00000329478;ENST00000454697	.	.	.	4.81	3.79	0.43588	.	0.168491	0.50627	D	0.000108	T	0.41119	0.1145	M	0.69185	2.1	0.41829	D	0.990062	P	0.40970	0.734	B	0.42798	0.398	T	0.52034	-0.8629	9	0.56958	D	0.05	-18.1231	9.6141	0.39681	0.797:0.203:0.0:0.0	.	53	Q96EY9	ADAT3_HUMAN	E	53	.	ENSP00000332448:K53E	K	+	1	0	ADAT3	1863251	1.000000	0.71417	0.864000	0.33941	0.072000	0.16883	2.446000	0.44908	0.712000	0.32039	0.523000	0.50628	AAG		0.731	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		G	1912251	A	G	1912251	3	3	58	1	0	0	0	0	1	0	0	0	286	131	5	4	159	4	ADAT3	19	1912251	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	830634	1912251	57216732	124	5811											
ZNRF4	148066	mdanderson.org	37	chr19	5455971	5455971	+	Missense_Mutation	SNP	G	G	T																															tgggcaaccgctctctgggcGccatcgtgctgatccgccgc																								rs8103406	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:5455971G>T	ENST00000222033.4	+	1	546	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	157	PA.		A -> S (in dbSNP:rs8103406).	AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		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)		CTCTCTGGGCGCCATCGTGCT	0.682													G|||	2713	0.541733	0.3585	0.4971	5008	,	,		15533	0.753		0.5278	False		,,,				2504	0.6176					.											0								G	SER/ALA	1582,2672		336,910,881	27	31	30		469	-2.2	0	19	dbSNP_116	30	4185,4267		1076,2033,1117	no	missense	ZNRF4	NM_181710.3	99	1412,2943,1998	TT,TG,GG		49.5149,37.1885,45.388	benign	157/430	5455971	5767,6939	2127	4226	6353	SO:0001583	missense	148066			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.469G>T	19.37:g.5455971G>T	ENSP00000222033:p.Ala157Ser		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	1225	0.5608974358974359	185	0.37601626016260165	200	0.5524861878453039	447	0.7814685314685315	393	0.5184696569920845	G	6.035	0.374881	0.11409	0.371885	0.495149	ENSG00000105428	ENST00000222033	T	0.05996	3.36	4.65	-2.19	0.07015	Protease-associated domain, PA (1);	0.532164	0.18743	U	0.132384	T	0.00012	0.0000	N	0.13327	0.33	0.80722	P	0.0	P	0.35527	0.507	B	0.40410	0.328	T	0.04140	-1.0974	9	0.20519	T	0.43	-12.463	8.1434	0.31097	0.0:0.1176:0.3591:0.5233	rs8103406;rs17205855;rs17845552;rs17858449;rs61351917;rs8103406	157	Q8WWF5	ZNRF4_HUMAN	S	157	ENSP00000222033:A157S	ENSP00000222033:A157S	A	+	1	0	ZNRF4	5406971	0.024000	0.19004	0.000000	0.03702	0.066000	0.16364	0.569000	0.23638	-0.062000	0.13088	0.491000	0.48974	GCC		0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		T	5455971	G	T	5455971	3	4	58	1	0	0	0	0	1	0	0	0	18211	1087	38	5	471	5	ZNRF4	19	5455971	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	3543720	5455971	53673012	125	5812	154	2									
ZNRF4	148066	mdanderson.org	37	chr19	5455978	5455978	+	Missense_Mutation	SNP	T	T	C																															ccgctctctgggcgccatcgTgctgatccgccgctacgact																								rs386806230|rs8107825	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:5455978T>C	ENST00000222033.4	+	1	553	c.476T>C	c.(475-477)gTg>gCg	p.V159A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	159	PA.		V -> A (in dbSNP:rs8107825).	AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		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)		GGCGCCATCGTGCTGATCCGC	0.677													C|||	2726	0.544329	0.3744	0.4957	5008	,	,		15728	0.752		0.5219	False		,,,				2504	0.6176					.											0								C	ALA/VAL	1603,2649		348,907,871	28	31	30		476	-3.1	0	19	dbSNP_116	30	4077,4391		1076,1925,1233	yes	missense	ZNRF4	NM_181710.3	64	1424,2832,2104	CC,CT,TT		48.146,37.6999,44.6541	benign	159/430	5455978	5680,7040	2126	4234	6360	SO:0001583	missense	148066			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.476T>C	19.37:g.5455978T>C	ENSP00000222033:p.Val159Ala		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	1232	0.5641025641025641	191	0.3882113821138211	201	0.5552486187845304	447	0.7814685314685315	393	0.5184696569920845	C	0.375	-0.931828	0.02359	0.376999	0.48146	ENSG00000105428	ENST00000222033	T	0.10668	2.85	4.65	-3.08	0.05347	Protease-associated domain, PA (1);	0.244527	0.32503	N	0.006003	T	0.00012	0.0000	N	0.17248	0.465	0.80722	P	0.0	B	0.10296	0.003	B	0.14578	0.011	T	0.39035	-0.9633	9	0.02654	T	1	-7.3391	12.8579	0.57897	0.0:0.5818:0.0:0.4182	rs8107825;rs17856547;rs60068947;rs8107825	159	Q8WWF5	ZNRF4_HUMAN	A	159	ENSP00000222033:V159A	ENSP00000222033:V159A	V	+	2	0	ZNRF4	5406978	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	-0.987000	0.03743	-0.981000	0.03520	-1.140000	0.01884	GTG		0.677	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		C	5455978	T	C	5455978	3	2	58	1	0	0	0	0	1	0	0	0	18211	1696	59	2	478	2	ZNRF4	19	5455978	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	7	5455978	53673005	126	5813	154	2									
PNPLA6	10908	mdanderson.org	37	chr19	7615903	7615903	+	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	gaggcactgacccggcagccGcgagccacgacggtgcacgc	8	2	15	16	6	0	1	0	1	0	0	0	4	0	1	3	3	3	3	3	3	0	0	rs8107538	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:7615903G>A	ENST00000221249.6	+	20	2408	c.1977G>A	c.(1975-1977)ccG>ccA	p.P659P	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Silent_p.P633P|PNPLA6_ENST00000450331.3_Silent_p.P659P|PNPLA6_ENST00000414982.3_Silent_p.P707P|PNPLA6_ENST00000600737.1_Silent_p.P698P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	698					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						CCCGGCAGCCGCGAGCCACGA	0.687													G|||	1012	0.202077	0.3419	0.1758	5008	,	,		9640	0.0129		0.2386	False		,,,				2504	0.1892					.											0								G	,,,,	1025,2749		156,713,1018	4	4	4		2121,1899,1977,2094,1977	-9.8	0.6	19	dbSNP_116	4	1552,5774		175,1202,2286	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	,,,,	331,1915,3304	AA,AG,GG		21.1848,27.1595,23.2162	,,,,	707/1376,633/1301,659/1328,698/1366,659/1328	7615903	2577,8523	1887	3663	5550	SO:0001819	synonymous_variant	10908			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.1977G>A	19.37:g.7615903G>A			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.687	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		A	7615903	G	A	7615903	2	1	58	1	0	0	0	0	0	0	0	1	12169	1074	38	1		1	PNPLA6	19	7615903	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	2159925	7615903	51513080	127	5814											
ZNF709	163051	broad.mit.edu	37	chr19	12575585	12575585	+	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	gtttctctccagtgtgagttCgttcatggatttgaaaagaa	10	15	10	6	1	2	3	1	2	1	1	5	4	3	4	1	1	0	3	1	1	3	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:12575585C>T	ENST00000397732.3	-	4	1322	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R384Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCGTTCATGGAT	0.403																																					GBM(33;565 669 12371 29134 51667)	.											0													102	108	106					19																	12575585		2203	4300	6503	SO:0001583	missense	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1151G>A	19.37:g.12575585C>T	ENSP00000380840:p.Arg384Gln		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877206	0.72294	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24723	1.84;1.84	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33938	N	0.004420	T	0.39733	0.1089	M	0.65320	2	0.30009	N	0.815324	D	0.76494	0.999	P	0.56343	0.796	T	0.41787	-0.9489	10	0.72032	D	0.01	.	13.272	0.60165	0.0:1.0:0.0:0.0	.	384	Q8N972	ZN709_HUMAN	Q	384	ENSP00000380840:R384Q;ENSP00000404127:R384Q	ENSP00000404127:R384Q	R	-	2	0	ZNF709;CTD-2192J16.17	12436585	0.000000	0.05858	0.031000	0.17742	0.968000	0.65278	-1.097000	0.03349	1.860000	0.53959	0.467000	0.42956	CGA		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		T	12575585	C	T	12575585	3	4	58	1	0	0	0	0	1	0	0	0	18110	884	31	1	778	1	ZNF709	19	12575585	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	4959682	12575585	46553398	128	5815											
CPAMD8	27151	hgsc.bcm.edu;ucsc.edu	37	chr19	17088187	17088187	+	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	cgatgctctacctggttttcGaagaaggtctcgactgcaaa	10	11	10	10	3	2	1	0	0	2	1	4	4	2	1	1	2	3	3	1	2	4	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:17088187G>A	ENST00000443236.1	-	15	1921	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						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						CCTGGTTTTCGAAGAAGGTCT	0.612																																						.											0													88	90	89					19																	17088187		1970	4144	6114	SO:0001819	synonymous_variant	27151			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.1890C>T	19.37:g.17088187G>A			Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	g	0.634	-0.815901	0.02776	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.78	-2.91	0.05631	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49781	-0.8903	4	.	.	.	.	9.1401	0.36899	0.7257:0.0:0.2743:0.0	.	.	.	.	L	641	.	.	S	-	2	0	CPAMD8	16949187	0.999000	0.42202	0.465000	0.27155	0.150000	0.21749	0.664000	0.25068	-0.662000	0.05338	-0.963000	0.02626	TCG		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17088187	G	A	17088187	2	1	58	1	0	0	0	0	0	0	0	1	3795	1049	37	1		1	CPAMD8	19	17088187	Silent	SNP	G	TCGA-KO-8408-01A-11D-2310-10	4512602	17088187	42040796	129	5816											
ZNF676	163223	mdanderson.org	37	chr19	22363448	22363448	+	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	ggtttctctccagtatgaatAatcttatgtttagtaaggat	11	17	8	5	0	2	1	0	1	2	0	4	2	3	2	1	2	0	4	1	2	6	7	rs200452805		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:22363448A>T	ENST00000397121.2	-	3	1388	c.1071T>A	c.(1069-1071)atT>atA	p.I357I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				CAGTATGAATAATCTTATGTT	0.383																																						.											0													68	74	72					19																	22363448		2162	4271	6433	SO:0001819	synonymous_variant	163223			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.1071T>A	19.37:g.22363448A>T			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.383	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363448	A	T	22363448	2	4	58	1	0	0	0	0	0	0	0	1	18080	358	13	5		5	ZNF676	19	22363448	Silent	SNP	A	TCGA-KO-8408-01A-11D-2310-10	5275261	22363448	36765535	130	5817											
FFAR1	2864	mdanderson.org	37	chr19	35843086	35843086	+	Missense_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	ctgcctccgggcactggcccGctccggcctgacgcacaggc	4	5	13	19	4	0	1	0	1	0	0	2	1	2	1	5	4	1	3	5	4	0	0	rs2301151	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:35843086G>A	ENST00000246553.2	+	1	642	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	211			R -> H (in dbSNP:rs2301151). {ECO:0000269|PubMed:15489334}.		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)	GCACTGGCCCGCTCCGGCCTG	0.697													A|||	4405	0.879593	0.9902	0.8746	5008	,	,		14480	0.8056		0.7714	False		,,,				2504	0.9213					.											0			GRCh37	CM057586	FFAR1	M	rs2301151	A	HIS/ARG	4166,218		1978,210,4	15	15	15		632	-4.6	0.4	19	dbSNP_100	15	6689,1893		2621,1447,223	yes	missense	FFAR1	NM_005303.2	29	4599,1657,227	AA,AG,GG		22.0578,4.9726,16.281	benign	211/301	35843086	10855,2111	2192	4291	6483	SO:0001583	missense	2864			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.632G>A	19.37:g.35843086G>A	ENSP00000246553:p.Arg211His		Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	1787	0.8182234432234432	481	0.9776422764227642	301	0.8314917127071824	436	0.7622377622377622	569	0.7506596306068601	A	3.093	-0.186384	0.06340	0.950274	0.779422	ENSG00000126266	ENST00000246553	T	0.43688	0.94	4.1	-4.61	0.03380	GPCR, rhodopsin-like superfamily (1);	0.710890	0.12507	N	0.462804	T	0.00012	0.0000	N	0.12746	0.255	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.19614	-1.0300	9	0.39692	T	0.17	-1.514	9.798	0.40746	0.2797:0.0:0.6033:0.117	rs2301151;rs17705375;rs2301151	211	O14842	FFAR1_HUMAN	H	211	ENSP00000246553:R211H	ENSP00000246553:R211H	R	+	2	0	FFAR1	40534926	0.004000	0.15560	0.443000	0.26883	0.215000	0.24574	0.285000	0.18883	-1.498000	0.01824	-1.327000	0.01280	CGC		0.697	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		A	35843086	G	A	35843086	3	1	58	1	0	0	0	0	1	0	0	0	5827	1087	38	1	634	1	FFAR1	19	35843086	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	13479638	35843086	23285897	131	5818											
RYR1	6261	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	38946146	38946146	+	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	ctcttctccacaaacttggaCtggctggtcagcaagctgga	9	10	10	12	0	3	0	1	0	2	0	4	2	3	2	1	4	3	3	1	4	2	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:38946146C>G	ENST00000359596.3	+	15	1632	c.1632C>G	c.(1630-1632)gaC>gaG	p.D544E	RYR1_ENST00000360985.3_Missense_Mutation_p.D544E|RYR1_ENST00000355481.4_Missense_Mutation_p.D544E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	544			D -> Y (in MHS1). {ECO:0000269|PubMed:19191329}.		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)	CAAACTTGGACTGGCTGGTCA	0.597																																						.											0													89	81	84					19																	38946146		2203	4300	6503	SO:0001583	missense	6261			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.1632C>G	19.37:g.38946146C>G	ENSP00000352608:p.Asp544Glu		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452398	0.43531	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.89270	-2.49;-2.49;-2.49	4.01	0.592	0.17471	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000001	D	0.93347	0.7879	M	0.86573	2.825	0.36063	D	0.841576	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.92377	0.5910	10	0.87932	D	0	.	7.3077	0.26457	0.0:0.3696:0.0:0.6304	.	544;544	P21817-2;P21817	.;RYR1_HUMAN	E	544	ENSP00000352608:D544E;ENSP00000347667:D544E;ENSP00000354254:D544E	ENSP00000347667:D544E	D	+	3	2	RYR1	43637986	0.980000	0.34600	0.999000	0.59377	0.992000	0.81027	0.231000	0.17872	0.006000	0.14734	0.407000	0.27541	GAC		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38946146	C	G	38946146	3	3	58	1	0	0	0	0	1	0	0	0	13768	564	20	5	1690	5	RYR1	19	38946146	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	3103060	38946146	20182837	132	5819											
NFKBIB	4793	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	39398202	39398202	+	Missense_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	gcccaaccccatcctcgcccGcctcctccgtgcacacggag	6	5	8	22	4	0	0	0	0	0	0	4	1	3	1	8	1	2	1	8	1	1	0	rs557957478		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:39398202G>A	ENST00000313582.5	+	5	906	c.872G>A	c.(871-873)cGc>cAc	p.R291H	NFKBIB_ENST00000392079.3_Missense_Mutation_p.R259H|NFKBIB_ENST00000572515.1_Missense_Mutation_p.R291H	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	291					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)			ATCCTCGCCCGCCTCCTCCGT	0.706													G|||	1	0.000199681	0	0	5008	,	,		15579	0		0.001	False		,,,				2504	0				Pancreas(165;1492 2005 6979 7739 34483)	.											0													20	21	21					19																	39398202		2191	4278	6469	SO:0001583	missense	4793			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.872G>A	19.37:g.39398202G>A	ENSP00000312988:p.Arg291His		A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371349	0.42003	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.65549	-0.16;-0.16	4.9	3.87	0.44632	Ankyrin repeat-containing domain (4);	0.255015	0.28296	N	0.015872	T	0.55986	0.1955	L	0.61387	1.9	0.31726	N	0.637663	B;B;B	0.13145	0.004;0.007;0.004	B;B;B	0.12837	0.005;0.008;0.005	T	0.62445	-0.6853	10	0.87932	D	0	-12.6474	7.3513	0.26693	0.1908:0.0:0.8092:0.0	.	314;259;291	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	H	314;291;259	ENSP00000312988:R291H;ENSP00000375929:R259H	ENSP00000312988:R291H	R	+	2	0	NFKBIB	44090042	0.454000	0.25728	0.998000	0.56505	0.846000	0.48090	0.616000	0.24344	1.299000	0.44798	-0.229000	0.12294	CGC		0.706	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		A	39398202	G	A	39398202	3	1	58	1	0	0	0	0	1	0	0	0	10378	1087	38	1	890	1	NFKBIB	19	39398202	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	452056	39398202	19730781	133	5820											
ZNF45	7596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	44418134	44418134	+	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	tacagtgtacattaagatctGagctccgactgaagcccttc	11	11	8	11	1	1	3	0	2	1	1	3	4	2	3	2	0	4	2	2	0	4	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:44418134G>C	ENST00000269973.5	-	10	2544	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S485*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	485					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S485*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTAAGATCTGAGCTCCGACT	0.502																																						.											1	Substitution - Nonsense(1)	lung(1)											60	60	60					19																	44418134		2203	4300	6503	SO:0001587	stop_gained	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1454C>G	19.37:g.44418134G>C	ENSP00000269973:p.Ser485*		P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.410211|12.410211	0.99665|0.99665	.|.	.|.	ENSG00000124459|ENSG00000124459	ENST00000328762|ENST00000269973	.|.	.|.	.|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.30704	.|N	.|0.009053	T|.	0.65595|.	0.2706|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68834|.	-0.5304|.	5|.	0.72032|0.62326	D|D	0.01|0.03	-6.1441|-6.1441	10.5424|10.5424	0.45041|0.45041	0.0:0.0:0.8058:0.1942|0.0:0.0:0.8058:0.1942	.|.	.|.	.|.	.|.	E|X	485|485	.|.	ENSP00000367176:Q485E|ENSP00000269973:S485X	Q|S	-|-	1|2	0|0	ZNF45|ZNF45	49109974|49109974	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.889000|0.889000	0.28282|0.28282	2.030000|2.030000	0.59900|0.59900	0.462000|0.462000	0.41574|0.41574	CAG|TCA		0.502	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		C	44418134	G	C	44418134	4	2	58	1	0	0	0	0	0	1	0	0	17918	1294	45	5	598	5	ZNF45	19	44418134	Nonsense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	5019932	44418134	14710849	134	5821											
RTN2	6253	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	45991752	45991752	+	Missense_Mutation	SNP	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	gtgctgccggtacagcagggGgatggtgaatagaccaatca	11	7	15	8	1	1	2	1	1	0	1	1	3	1	3	2	4	4	3	2	4	4	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:45991752G>T	ENST00000245923.4	-	9	1709	c.1474C>A	c.(1474-1476)Ccc>Acc	p.P492T	PPM1N_ENST00000401705.1_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.P419T|RTN2_ENST00000430715.2_Missense_Mutation_p.P152T|RTN2_ENST00000590526.1_Missense_Mutation_p.P218T	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	492	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)				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)		TACAGCAGGGGGATGGTGAAT	0.587																																						.											0													106	100	102					19																	45991752		2203	4300	6503	SO:0001583	missense	6253			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.1474C>A	19.37:g.45991752G>T	ENSP00000245923:p.Pro492Thr		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343709	0.82022	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.77489	-1.1;-1.1;-1.1	5.58	5.58	0.84498	.	0.109289	0.64402	D	0.000005	D	0.88969	0.6582	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90290	0.4322	10	0.87932	D	0	-14.6183	15.1396	0.72601	0.0:0.0:1.0:0.0	.	419;492	O75298-2;O75298	.;RTN2_HUMAN	T	419;492;152	ENSP00000345127:P419T;ENSP00000245923:P492T;ENSP00000398178:P152T	ENSP00000245923:P492T	P	-	1	0	RTN2	50683592	1.000000	0.71417	0.909000	0.35828	0.883000	0.51084	7.344000	0.79328	2.649000	0.89929	0.650000	0.86243	CCC		0.587	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		T	45991752	G	T	45991752	3	4	58	1	0	0	0	0	1	0	0	0	13726	1232	43	5	175	5	RTN2	19	45991752	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	1573618	45991752	13137231	135	5822											
PLEKHA4	57664	broad.mit.edu	37	chr19	49340604	49340605	+	Frame_Shift_Ins	INS	-	-	G																															tgccccctcgtcttgtggcaINSggaccggaggggcgatcccg																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:49340604_49340605insG	ENST00000263265.6	-	20	2836_2837	c.2281_2282insC	c.(2281-2283)ctgfs	p.L761fs	HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR|HSD17B14_ENST00000263278.4_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	761						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)		GTCTTGTGGCAGGACCGGAGGG	0.663																																						.											0																																										SO:0001589	frameshift_variant	57664			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.2282dupC	19.37:g.49340606_49340606dupG	ENSP00000263265:p.Leu761fs		Q8N4M8|Q8N658	Frame_Shift_Ins	INS	ENST00000263265.6	37	CCDS12737.1																																																																																				0.663	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			G	49340605	-	G	49340604	7	5	58	1	0	1	1	0	0	0	0	0	12058	188	7	0	61	0	PLEKHA4	19	49340604	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	3348852	49340604	9788379	136	5823											
LILRA6	79168	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	54744177	54744177	+	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	catgagttccaggggctcacTggggaaagacagcaggtggg	10	6	17	8	0	1	2	1	1	0	1	2	3	2	3	1	6	1	3	1	6	1	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:54744177T>A	ENST00000396365.2	-	6	1270	c.1231A>T	c.(1231-1233)Agt>Tgt	p.S411C	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.S411C|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.S411C	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	411					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	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)		AGGGGCTCACTGGGGAAAGAC	0.637																																						.											0													90	128	115					19																	54744177		2197	4300	6497	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1231A>T	19.37:g.54744177T>A	ENSP00000379651:p.Ser411Cys			Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811295	0.50527	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.01527	4.8;4.8;4.8	2.71	2.71	0.32032	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000622	T	0.13500	0.0327	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.00239	-1.1888	10	0.87932	D	0	.	7.1498	0.25604	0.0:0.0:0.0:1.0	.	411;411;411	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	C	411	ENSP00000411227:S411C;ENSP00000379651:S411C;ENSP00000245621:S411C	ENSP00000245621:S411C	S	-	1	0	LILRA6	59435989	0.876000	0.30132	0.840000	0.33206	0.013000	0.08279	0.730000	0.26043	1.263000	0.44181	0.164000	0.16699	AGT		0.637	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54744177	T	A	54744177	3	1	58	1	0	0	0	0	1	0	0	0	8789	1580	55	5	226	5	LILRA6	19	54744177	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	5403573	54744177	4384806	137	5824											
CPXM1	56265	broad.mit.edu;mdanderson.org	37	chr20	2777897	2777897	+	Missense_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	gcgcgcctccctggagccagGtctggggcagcaggcgaatg	6	5	17	13	3	1	0	0	0	1	0	2	2	2	1	3	5	2	2	3	5	1	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:2777897G>A	ENST00000380605.2	-	6	837	c.773C>T	c.(772-774)aCc>aTc	p.T258I		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	258	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)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGGAGCCAGGTCTGGGGCAG	0.657																																						.											0													23	27	26					20																	2777897		2198	4291	6489	SO:0001583	missense	56265			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.773C>T	20.37:g.2777897G>A	ENSP00000369979:p.Thr258Ile		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704555	0.68615	.	.	ENSG00000088882	ENST00000380605	D	0.99032	-5.35	4.66	3.7	0.42460	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.115906	0.56097	D	0.000022	D	0.99029	0.9668	M	0.79475	2.455	0.36416	D	0.864022	D;D	0.64830	0.994;0.971	D;P	0.69142	0.962;0.812	D	0.99953	1.1577	10	0.87932	D	0	-13.0559	11.9346	0.52866	0.0:0.0:0.8251:0.1749	.	258;258	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	I	258	ENSP00000369979:T258I	ENSP00000369979:T258I	T	-	2	0	CPXM1	2725897	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.649000	0.37281	1.174000	0.42811	0.561000	0.74099	ACC		0.657	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		A	2777897	G	A	2777897	3	1	58	1	0	0	0	0	1	0	0	0	3837	1261	44	3	1467	3	CPXM1	20	2777897	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10		2777897	60247623	138	5825											
BTBD3	22903	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr20	11903397	11903397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgttaatttcctggagAccagcctgagtgccaagaat	10	11	10	10	0	0	3	0	1	0	2	1	4	1	3	5	1	2	1	5	1	3	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:11903397A>G	ENST00000405977.1	+	5	1277	c.652A>G	c.(652-654)Acc>Gcc	p.T218A	BTBD3_ENST00000254977.3_Missense_Mutation_p.T157A|BTBD3_ENST00000378226.2_Missense_Mutation_p.T218A|BTBD3_ENST00000399006.2_Missense_Mutation_p.T157A|BTBD3_ENST00000488503.1_3'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	218					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TTTCCTGGAGACCAGCCTGAG	0.542																																						.											0													105	104	104					20																	11903397		2203	4300	6503	SO:0001583	missense	22903			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.652A>G	20.37:g.11903397A>G	ENSP00000384545:p.Thr218Ala		D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607351	0.66558	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226;ENST00000455911	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.95	5.95	0.96441	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.52823	1.66	0.80722	D	1	P	0.42827	0.791	B	0.43478	0.421	T	0.01757	-1.1280	10	0.24483	T	0.36	.	15.6134	0.76744	1.0:0.0:0.0:0.0	.	218	Q9Y2F9	BTBD3_HUMAN	A	157;157;218;218;107	ENSP00000254977:T157A;ENSP00000381971:T157A;ENSP00000384545:T218A;ENSP00000367471:T218A;ENSP00000408817:T107A	ENSP00000254977:T157A	T	+	1	0	BTBD3	11851397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.281000	0.76405	0.528000	0.53228	ACC		0.542	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			G	11903397	A	G	11903397	3	3	58	1	0	0	0	0	1	0	0	0	1544	275	10	2	666	2	BTBD3	20	11903397	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	9125500	11903397	51122123	139	5826											
RBBP9	10741	broad.mit.edu	37	chr20	18477730	18477731	+	Frame_Shift_Ins	INS	-	-	C																															accttctccagctcctttttINScacccagccataccagccgt																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:18477730_18477731insC	ENST00000337227.4	-	1	156_157	c.81_82insG	c.(79-84)gtgaaafs	p.K28fs	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	28					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						AGCTCCTTTTTCACCCAGCCAT	0.609																																						.											0																																										SO:0001589	frameshift_variant	10741			AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"retinoblastoma-binding protein 9"			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.82dupG	20.37:g.18477731_18477731dupC	ENSP00000336866:p.Lys28fs		D3DW31|Q5JPH9|Q9H1D8	Frame_Shift_Ins	INS	ENST00000337227.4	37	CCDS13136.1																																																																																				0.609	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		C	18477731	-	C	18477730	7	5	58	1	0	1	1	0	0	0	0	0	13106	1792	62	0	498	0	RBBP9	20	18477730	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	6574333	18477730	44547790	140	5827											
MYLK2	85366	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr20	30408125	30408125	+	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	aaaggagagggtgacaggggCggggggcccgcggagggcag	9	1	24	7	3	0	2	0	1	0	1	0	4	0	3	1	9	0	1	1	9	1	0			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:30408125C>T	ENST00000375994.2	+	2	522	c.249C>T	c.(247-249)ggC>ggT	p.G83G	MYLK2_ENST00000375985.4_Silent_p.G83G			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	83					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)			GTGACAGGGGCGGGGGGCCCG	0.662																																						.											0													21	25	23					20																	30408125		2191	4271	6462	SO:0001819	synonymous_variant	85366			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.249C>T	20.37:g.30408125C>T			Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	CCDS13191.1																																																																																				0.662	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		T	30408125	C	T	30408125	2	4	58	1	0	0	0	0	0	0	0	1	10057	755	27	1		1	MYLK2	20	30408125	Silent	SNP	C	TCGA-KO-8408-01A-11D-2310-10	11930395	30408125	32617395	141	5828											
C20orf185	359710	hgsc.bcm.edu;mdanderson.org	37	chr20	31657702	31657702	+	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	ttgcccatgcaggtcatgacTgtgcgtgcccagctggctcc	5	10	12	14	1	1	1	1	1	0	0	2	1	2	1	3	2	5	3	3	2	0	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:31657702T>A	ENST00000375494.3	+	11	1158	c.1158T>A	c.(1156-1158)acT>acA	p.T386T		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	386					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGGTCATGACTGTGCGTGCCC	0.577																																						.											0													251	227	235					20																	31657702		2203	4300	6503	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1158T>A	20.37:g.31657702T>A			Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																				0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		A	31657702	T	A	31657702	2	1	58	1	0	0	0	0	0	0	0	1	2097	1567	55	5		5	C20orf185	20	31657702	Silent	SNP	T	TCGA-KO-8408-01A-11D-2310-10	1249577	31657702	31367818	142	5829											
SEMG2	6407	mdanderson.org;bcgsc.ca	37	chr20	43851703	43851703	+	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	ttcaagtacagaagaaagacGactcaactatggaggaaaga	19	6	10	6	1	2	4	2	0	0	4	2	7	2	6	0	2	2	1	0	2	7	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:43851703G>A	ENST00000372769.3	+	2	1520	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	477	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GAAGAAAGACGACTCAACTAT	0.393																																						.											0													81	80	81					20																	43851703		2203	4300	6503	SO:0001583	missense	6407				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1430G>A	20.37:g.43851703G>A	ENSP00000361855:p.Arg477Gln		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	3.240	-0.155535	0.06544	.	.	ENSG00000124157	ENST00000372769	T	0.06608	3.28	1.38	-2.53	0.06326	.	.	.	.	.	T	0.03871	0.0109	L	0.31578	0.945	0.09310	N	1	B;B	0.19331	0.035;0.012	B;B	0.13407	0.009;0.009	T	0.44421	-0.9329	9	0.25106	T	0.35	.	3.6481	0.08192	0.4393:0.3019:0.2588:0.0	.	477;477	A8K6Z6;Q02383	.;SEMG2_HUMAN	Q	477	ENSP00000361855:R477Q	ENSP00000361855:R477Q	R	+	2	0	SEMG2	43285117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.482000	0.02320	-0.770000	0.04614	-1.960000	0.00479	CGA		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		A	43851703	G	A	43851703	3	1	58	1	0	0	0	0	1	0	0	0	14045	1058	37	1	1436	1	SEMG2	20	43851703	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	12194001	43851703	19173817	143	5830											
PREX1	57580	broad.mit.edu	37	chr20	47307517	47307518	+	Frame_Shift_Ins	INS	-	-	C																															ccgctcgcggatgatggcatINSccagccacttctgcttctcc																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:47307517_47307518insC	ENST00000371941.3	-	9	1175_1176	c.1153_1154insG	c.(1153-1155)gatfs	p.D385fs	PREX1_ENST00000396220.1_Frame_Shift_Ins_p.D385fs	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	385	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			GATGATGGCATCCAGCCACTTC	0.599																																						.											0																																										SO:0001589	frameshift_variant	57580			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.1154dupG	20.37:g.47307519_47307519dupC	ENSP00000361009:p.Asp385fs		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Frame_Shift_Ins	INS	ENST00000371941.3	37	CCDS13410.1																																																																																				0.599	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		C	47307518	-	C	47307517	7	5	58	1	0	1	1	0	0	0	0	0	12476	1435	50	0	3953	0	PREX1	20	47307517	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	3455814	47307517	15718003	144	5831											
DIDO1	11083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	61513562	61513562	+	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	tggtgctgacagccgcgtctGcagagcagagtggatacttg	8	9	15	9	2	1	3	0	1	1	2	1	4	1	4	1	2	5	3	1	2	1	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:61513562G>C	ENST00000266070.4	-	16	4071	c.3746C>G	c.(3745-3747)gCa>gGa	p.A1249G	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1249G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1249					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)					AGCCGCGTCTGCAGAGCAGAG	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											0													87	99	95					20																	61513562		2203	4300	6503	SO:0001583	missense	11083			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.3746C>G	20.37:g.61513562G>C	ENSP00000266070:p.Ala1249Gly		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	4.977	0.181425	0.09495	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08370	3.1;3.1	5.22	0.891	0.19224	.	1.466600	0.05113	N	0.489227	T	0.04363	0.0120	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40961	-0.9535	10	0.11485	T	0.65	-6.2548	15.0367	0.71754	0.0788:0.7204:0.2008:0.0	.	1249	Q9BTC0	DIDO1_HUMAN	G	1249	ENSP00000266070:A1249G;ENSP00000378752:A1249G	ENSP00000266070:A1249G	A	-	2	0	DIDO1	60984007	0.030000	0.19436	0.000000	0.03702	0.001000	0.01503	0.325000	0.19628	0.117000	0.18138	-0.300000	0.09419	GCA		0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		C	61513562	G	C	61513562	3	2	58	1	0	0	0	0	1	0	0	0	4522	1319	46	5	2980	5	DIDO1	20	61513562	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	14206045	61513562	1511958	145	5832											
ZBTB46	140685	broad.mit.edu;ucsc.edu	37	chr20	62384061	62384061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtggcgcttcatgtgcTcgcgccgcgtgaacttcttc	3	12	13	13	6	2	1	1	1	1	0	4	1	2	1	1	1	2	2	1	1	1	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:62384061T>C	ENST00000245663.4	-	4	1526	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	ZBTB46_ENST00000302995.2_Missense_Mutation_p.E459G|ZBTB46_ENST00000395104.1_Missense_Mutation_p.E459G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	459					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)					CTTCATGTGCTCGCGCCGCGT	0.697																																						.											0													57	42	47					20																	62384061		2202	4297	6499	SO:0001583	missense	140685			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.1376A>G	20.37:g.62384061T>C	ENSP00000245663:p.Glu459Gly		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319880	0.81469	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.14640	2.49;2.49;2.49	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144833	0.44902	D	0.000419	T	0.13841	0.0335	N	0.13327	0.33	0.58432	D	0.999998	D	0.56287	0.975	P	0.55161	0.77	T	0.17471	-1.0368	10	0.15952	T	0.53	.	12.838	0.57784	0.0:0.0:0.0:1.0	.	459	Q86UZ6	ZBT46_HUMAN	G	459	ENSP00000245663:E459G;ENSP00000303102:E459G;ENSP00000378536:E459G	ENSP00000245663:E459G	E	-	2	0	ZBTB46	61854505	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.826000	0.86716	1.624000	0.50355	0.528000	0.53228	GAG		0.697	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		C	62384061	T	C	62384061	3	2	58	1	0	0	0	0	1	0	0	0	17544	1551	54	2	401	2	ZBTB46	20	62384061	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	870499	62384061	641459	146	5833											
HIRA	7290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	19363305	19363305	+	Missense_Mutation	SNP	T	T	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	caatgcagcaggagtagaggTagcattcatactggggtgaa	13	8	14	6	0	1	2	1	1	0	1	1	3	1	3	0	4	4	5	0	4	5	4			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:19363305T>C	ENST00000263208.5	-	15	1880	c.1624A>G	c.(1624-1626)Acc>Gcc	p.T542A	HIRA_ENST00000340170.4_Missense_Mutation_p.T542A|HIRA_ENST00000541063.1_Missense_Mutation_p.T498A|HIRA_ENST00000546308.1_Missense_Mutation_p.T498A	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	542	Interaction with CCNA1.				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)					GGAGTAGAGGTAGCATTCATA	0.488																																						.											0													116	91	100					22																	19363305		2203	4300	6503	SO:0001583	missense	7290			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.1624A>G	22.37:g.19363305T>C	ENSP00000263208:p.Thr542Ala		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076775	0.36662	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T;T	0.71579	-0.35;-0.58;-0.43;-0.39	5.02	2.79	0.32731	.	0.391386	0.27686	N	0.018280	T	0.46464	0.1394	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.15492	-1.0435	10	0.08837	T	0.75	-10.6408	4.5453	0.12078	0.1398:0.1619:0.0:0.6982	.	498;542;542	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	A	542;542;498;51;498	ENSP00000345350:T542A;ENSP00000263208:T542A;ENSP00000446073:T498A;ENSP00000441870:T498A	ENSP00000263208:T542A	T	-	1	0	HIRA	17743305	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	2.287000	0.43505	0.349000	0.23975	0.533000	0.62120	ACC		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		C	19363305	T	C	19363305	3	2	58	1	0	0	0	0	1	0	0	0	7120	1638	57	2	1473	2	HIRA	22	19363305	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10		19363305	31941261	147	5834											
YDJC	150223	mdanderson.org	37	chr22	21982892	21982892	+	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	ctcccaagagcaagagaaagCgtcggggccttcaccgcagc	11	4	12	14	3	1	2	1	0	0	2	3	3	2	2	3	2	3	2	3	2	3	1	rs2298428	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:21982892C>T	ENST00000292778.6	-	5	836	c.787G>A	c.(787-789)Gct>Act	p.A263T	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	263			A -> T (in dbSNP:rs2298428).		carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAAGAGAAAGCGTCGGGGCCT	0.701													C|||	1126	0.22484	0.0227	0.3631	5008	,	,		11576	0.4117		0.1769	False		,,,				2504	0.2566					.											0								C	THR/ALA	218,4160		4,210,1975	13	14	13	http://www.ncbi.nlm.nih.gov/pubmed?term	787	4.3	0.7	22	dbSNP_100	13	1582,6978		142,1298,2840	yes	missense	YDJC	NM_001017964.1	58	146,1508,4815	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	18.4813,4.9794,13.9125	benign	263/324	21982892	1800,11138	2189	4280	6469	SO:0001583	missense	150223				CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.787G>A	22.37:g.21982892C>T	ENSP00000292778:p.Ala263Thr		Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	CCDS33613.1	495	0.22664835164835165	20	0.04065040650406504	115	0.31767955801104975	223	0.38986013986013984	137	0.18073878627968337	C	24.5	4.541910	0.85917	0.049794	0.184813	ENSG00000161179	ENST00000292778	T	0.42131	0.98	4.32	4.32	0.51571	Polysaccharide deacetylase (1);	0.104489	0.64402	D	0.000007	T	0.00012	0.0000	L	0.54323	1.7	0.09310	P	1.0	P	0.46784	0.884	B	0.39068	0.289	T	0.47368	-0.9123	9	0.13470	T	0.59	-16.7508	14.3921	0.66986	0.0:1.0:0.0:0.0	rs2298428;rs52827392;rs56745961;rs2298428	263	A8MPS7	YDJC_HUMAN	T	263	ENSP00000292778:A263T	ENSP00000292778:A263T	A	-	1	0	YDJC	20312892	1.000000	0.71417	0.677000	0.29947	0.942000	0.58702	7.032000	0.76498	2.245000	0.73994	0.650000	0.86243	GCT		0.701	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			T	21982892	C	T	21982892	3	4	58	1	0	0	0	0	1	0	0	0	17468	768	27	1	188	1	YDJC	22	21982892	Missense_Mutation	SNP	C	TCGA-KO-8408-01A-11D-2310-10	2619587	21982892	29321674	148	5835											
RHBDD3	25807	broad.mit.edu	37	chr22	29661514	29661515	+	Frame_Shift_Ins	INS	-	-	C																															gggccaggaccaggccggggINSccggcccccaccagccacag																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:29661514_29661515insC	ENST00000216085.7	-	3	525_526	c.101_102insG	c.(100-102)ggcfs	p.G34fs	EWSR1_ENST00000332050.6_5'Flank|EWSR1_ENST00000406548.1_5'Flank|EWSR1_ENST00000397938.2_5'Flank|EWSR1_ENST00000333395.6_5'Flank|EWSR1_ENST00000414183.2_5'Flank|EWSR1_ENST00000332035.6_5'Flank|EWSR1_ENST00000331029.7_5'Flank	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	34					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						CCAGGCCGGGGCCGGCCCCCAC	0.683																																						.											0																																										SO:0001589	frameshift_variant	25807			AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.102dupG	22.37:g.29661516_29661516dupC	ENSP00000216085:p.Gly34fs		Q6I9X3|Q9UGQ7	Frame_Shift_Ins	INS	ENST00000216085.7	37	CCDS13850.1																																																																																				0.683	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		C	29661515	-	C	29661514	7	5	58	1	0	1	1	0	0	0	0	0	13318	1190	42	0	1078	0	RHBDD3	22	29661514	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	7678622	29661514	21643052	149	5836											
CSF2RB	1439	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr22	37326788	37326788	+	Missense_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	ggcaccactgccagattcccGtgcccgaccccgcgacccac	7	4	9	21	4	0	1	0	0	0	1	1	3	1	1	7	1	2	1	7	1	0	1			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:37326788G>A	ENST00000403662.3	+	8	1150	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	CSF2RB_ENST00000262825.5_Missense_Mutation_p.V316M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V316M|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V257M			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	310					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)	CCAGATTCCCGTGCCCGACCC	0.607																																						.											0													67	56	60					22																	37326788		2203	4300	6503	SO:0001583	missense	1439			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.928G>A	22.37:g.37326788G>A	ENSP00000384053:p.Val310Met		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013073	0.75161	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.36	5.36	0.76844	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.376195	0.19117	N	0.122286	T	0.81250	0.4783	M	0.76002	2.32	0.36748	D	0.88257	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82979	-0.0188	10	0.38643	T	0.18	-28.2247	16.0129	0.80417	0.0:0.0:1.0:0.0	.	316;310	P32927-2;P32927	.;IL3RB_HUMAN	M	310;310;316;316;257	ENSP00000384053:V310M;ENSP00000262825:V316M;ENSP00000385271:V316M;ENSP00000440003:V257M	ENSP00000262825:V316M	V	+	1	0	CSF2RB	35656734	0.994000	0.37717	0.268000	0.24571	0.019000	0.09904	3.867000	0.56047	2.506000	0.84524	0.462000	0.41574	GTG		0.607	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		A	37326788	G	A	37326788	3	1	58	1	0	0	0	0	1	0	0	0	3935	1145	40	1	954	1	CSF2RB	22	37326788	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10	7665274	37326788	13977778	150	5837											
SAPS2	9701	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr22	50832465	50832465	+	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	gtgtaaggctcagaaccagaAgctgctggacttcctgtgca	10	9	12	10	0	1	2	1	0	0	2	2	3	2	3	2	2	4	5	2	2	3	2			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:50832465A>T	ENST00000216061.5	+	4	498	c.128A>T	c.(127-129)aAg>aTg	p.K43M	PPP6R2_ENST00000359139.3_Missense_Mutation_p.K43M|PPP6R2_ENST00000395744.3_Missense_Mutation_p.K43M|PPP6R2_ENST00000395741.3_Missense_Mutation_p.K43M			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	43						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						CAGAACCAGAAGCTGCTGGAC	0.552																																						.											0													162	145	150					22																	50832465		2203	4300	6503	SO:0001583	missense	9701			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.128A>T	22.37:g.50832465A>T	ENSP00000216061:p.Lys43Met		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37		.	.	.	.	.	.	.	.	.	.	A	19.01	3.744168	0.69418	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.43	3.32	0.38043	.	0.166665	0.49305	D	0.000158	T	0.64227	0.2579	M	0.79123	2.44	0.38371	D	0.944877	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;1.0	D;P;D;D;D	0.75484	0.957;0.906;0.986;0.957;0.986	T	0.67868	-0.5559	10	0.87932	D	0	-27.622	7.1525	0.25618	0.7508:0.0:0.2492:0.0	.	43;43;43;43;43	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	M	43	ENSP00000352051:K43M;ENSP00000379090:K43M;ENSP00000379093:K43M;ENSP00000216061:K43M	ENSP00000216061:K43M	K	+	2	0	PPP6R2	49179331	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.829000	0.48128	0.898000	0.36418	0.477000	0.44152	AAG		0.552	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		T	50832465	A	T	50832465	3	4	58	1	0	0	0	0	1	0	0	0	13837	72	3	5	130	5	SAPS2	22	50832465	Missense_Mutation	SNP	A	TCGA-KO-8408-01A-11D-2310-10	13505677	50832465	472101	151	5838											
CXorf21	80231	broad.mit.edu;mdanderson.org	37	chrX	30577710	30577710	+	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	attcttctctctagacacttGaagactgatttggtctacac	10	15	6	10	0	4	4	0	2	4	2	5	4	4	4	0	1	1	0	0	1	3	6			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:30577710G>C	ENST00000378962.3	-	3	1085	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	255										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTAGACACTTGAAGACTGATT	0.403																																						.											0													99	88	92					X																	30577710		2202	4300	6502	SO:0001583	missense	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.763C>G	X.37:g.30577710G>C	ENSP00000368245:p.Gln255Glu			Missense_Mutation	SNP	ENST00000378962.3	37	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313179	0.40895	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	4.21	0.49690	.	0.067962	0.64402	D	0.000012	T	0.52917	0.1764	M	0.74881	2.28	0.40146	D	0.976898	P	0.39480	0.675	B	0.29785	0.107	T	0.65389	-0.6180	9	0.72032	D	0.01	-7.5846	12.7882	0.57518	0.0:0.0:0.7183:0.2817	.	255	Q9HAI6	CX021_HUMAN	E	255	.	ENSP00000368245:Q255E	Q	-	1	0	CXorf21	30487631	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.931000	0.70113	2.351000	0.79841	0.513000	0.50165	CAA		0.403	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		C	30577710	G	C	30577710	3	2	58	1	0	0	0	0	1	0	0	0	4101	1299	45	5	146	5	CXorf21	23	30577710	Missense_Mutation	SNP	G	TCGA-KO-8408-01A-11D-2310-10		30577710	124692850	152	5839											
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	chrX	76937378	76937378	+	Frame_Shift_Del	DEL	A	A	-																															tttcagtctcttatcagaagAgttacaaccatcttctttca																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:76937378delA	ENST00000373344.5	-	9	3584	c.3370delT	c.(3370-3372)tctfs	p.S1125fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1087fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1125					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						TTATCAGAAGAGTTACAACCA	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											79	83	82					X																	76937378		2203	4291	6494	SO:0001589	frameshift_variant	546			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.3370delT	X.37:g.76937378delA	ENSP00000362441:p.Ser1125fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76937378	A	-	76937378	7	5	58	1	0	1	0	1	0	0	0	0	1208	304	11	0	4216	0	ATRX	23	76937378	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10	46359668	76937378	78333182	153	5840	155	2									
ATRX	546	bcgsc.ca	37	chrX	76937379	76937379	+	Frame_Shift_Del	DEL	A	A	-																															ttcagtctcttatcagaagaGttacaaccatcttctttcat																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:76937379delA	ENST00000373344.5	-	9	3583	c.3369delT	c.(3367-3369)aatfs	p.N1123fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1085fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1123					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						TATCAGAAGAGTTACAACCAT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											79	83	82					X																	76937379		2203	4292	6495	SO:0001589	frameshift_variant	546			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.3369delT	X.37:g.76937379delA	ENSP00000362441:p.Asn1123fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76937379	A	-	76937379	7	5	58	1	0	1	0	1	0	0	0	0	1208	1020	36	0	4217	0	ATRX	23	76937379	Frame_Shift_Del	DEL	A	TCGA-KO-8408-01A-11D-2310-10	1	76937379	78333181	154	5841	155	2									
ATP7A	538	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	77275864	77275864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccctttctcaaattgTcaaacttgtggaagaggcac	13	10	7	11	0	2	1	2	0	1	1	3	2	2	2	1	2	2	1	1	2	4	3			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:77275864T>C	ENST00000341514.6	+	13	2905	c.2750T>C	c.(2749-2751)gTc>gCc	p.V917A	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V839A	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	917					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCTCAAATTGTCAAACTTGTG	0.418																																						.											0													104	91	95					X																	77275864		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2750T>C	X.37:g.77275864T>C	ENSP00000345728:p.Val917Ala		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868876	0.91587	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.88509	-2.39;-2.39	5.83	5.83	0.93111	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.91945	0.7449	L	0.43598	1.365	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.92826	0.6276	10	0.87932	D	0	2.33	15.1442	0.72637	0.0:0.0:0.0:1.0	.	917	Q04656	ATP7A_HUMAN	A	839;917	ENSP00000343026:V839A;ENSP00000345728:V917A	ENSP00000345728:V917A	V	+	2	0	ATP7A	77162520	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.038000	0.88943	1.960000	0.56953	0.441000	0.28932	GTC		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		C	77275864	T	C	77275864	3	2	58	1	0	0	0	0	1	0	0	0	1190	1667	58	2	2796	2	ATP7A	23	77275864	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	338485	77275864	77994696	155	5842											
SYTL4	94121	broad.mit.edu	37	chrX	99942167	99942168	+	Frame_Shift_Ins	INS	-	-	A																															tcatacttcagggaaaaggcINSaatcctgccagtcacaaaga																										TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:99942167_99942168insA	ENST00000372989.1	-	13	1411_1412	c.1080_1081insT	c.(1078-1083)attgccfs	p.A361fs	SYTL4_ENST00000276141.6_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000454200.2_Frame_Shift_Ins_p.A363fs|SYTL4_ENST00000455616.1_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000263033.5_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000372981.1_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	361	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGGGAAAAGGCAATCCTGCCAG	0.495																																						.											0																																										SO:0001589	frameshift_variant	94121				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.1081dupT	X.37:g.99942169_99942169dupA	ENSP00000362080:p.Ala361fs		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Frame_Shift_Ins	INS	ENST00000372989.1	37	CCDS14472.1																																																																																				0.495	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		A	99942168	-	A	99942167	7	5	58	1	0	1	1	0	0	0	0	0	15482	710	25	0	962	0	SYTL4	23	99942167	Frame_Shift_Ins	INS	-	TCGA-KO-8408-01A-11D-2310-10	22666303	99942167	55328393	156	5843											
HCFC1	3054	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	153230057	153230057	+	Missense_Mutation	SNP	T	T	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	cgtagaggtcattgctgtatTtcccatactccaccatccca	9	12	6	14	1	1	1	1	0	0	1	4	1	4	1	4	1	2	3	4	1	3	5			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:153230057T>C	ENST00000310441.7	-	2	1280	c.314A>G	c.(313-315)aAa>aGa	p.K105R	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.K105R|HCFC1_ENST00000369984.4_Missense_Mutation_p.K105R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	105					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)					ATTGCTGTATTTCCCATACTC	0.587																																						.											0													172	181	178					X																	153230057		2182	4253	6435	SO:0001583	missense	3054				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.314A>G	X.37:g.153230057T>C	ENSP00000309555:p.Lys105Arg		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426077	0.83667	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.43688	0.94;0.94;0.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	N	0.20845	0.615	0.58432	D	0.999997	B	0.23316	0.083	B	0.43274	0.414	T	0.47787	-0.9090	10	0.62326	D	0.03	.	13.4587	0.61214	0.0:0.0:0.0:1.0	.	105	P51610	HCFC1_HUMAN	R	105	ENSP00000309555:K105R;ENSP00000359001:K105R;ENSP00000346174:K105R	ENSP00000309555:K105R	K	-	2	0	HCFC1	152883251	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.887000	0.56197	1.821000	0.53095	0.381000	0.24937	AAA		0.587	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		C	153230057	T	C	153230057	3	2	58	1	0	0	0	0	1	0	0	0	6991	1841	64	4	5893	4	HCFC1	23	153230057	Missense_Mutation	SNP	T	TCGA-KO-8408-01A-11D-2310-10	53287890	153230057	2040503	157	5844											
ARHGEF10L	55160	mdanderson.org	37	chr1	18023690	18023690	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggccgacgaccccgacAtctgggtgcgcagccggccc	7	4	14	16	5	1	1	0	0	1	1	1	4	1	1	5	3	2	1	5	3	0	0	rs2270976	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:18023690A>G	ENST00000361221.3	+	29	3814	c.3655A>G	c.(3655-3657)Atc>Gtc	p.I1219V	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I992V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I1180V|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I1180V|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I922V	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1219			I -> V (in dbSNP:rs2270976). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16112081}.			cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGACCCCGACATCTGGGTGCG	0.682													G|||	4120	0.822684	0.6694	0.8746	5008	,	,		15288	0.8988		0.8211	False		,,,				2504	0.9162					.											0								G	VAL/ILE,VAL/ILE	3132,1254		1149,834,210	18	19	19		3538,3655	3	1	1	dbSNP_100	19	7157,1397		3009,1139,129	yes	missense,missense	ARHGEF10L	NM_001011722.2,NM_018125.3	29,29	4158,1973,339	GG,GA,AA		16.3315,28.591,20.4869	benign,benign	1180/1241,1219/1280	18023690	10289,2651	2193	4277	6470	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3655A>G	1.37:g.18023690A>G	ENSP00000355060:p.Ile1219Val		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	CCDS182.1	1772	0.8113553113553114	333	0.676829268292683	314	0.8674033149171271	513	0.8968531468531469	612	0.8073878627968337	G	2.988	-0.208717	0.06140	0.71409	0.836685	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.58210	0.63;0.62;0.62;0.35;2.61	4.89	2.98	0.34508	.	0.331575	0.27787	N	0.017853	T	0.00012	0.0000	N	0.02697	-0.525	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.41270	-0.9518	9	0.02654	T	1	-19.6777	7.746	0.28869	0.2723:0.0:0.7277:0.0	rs2270976;rs59534978;rs2270976	992;922;1175;1180;1219	Q5VXI4;Q9HCE6-4;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;ARGAL_HUMAN	V	1219;1180;1180;992;922	ENSP00000355060:I1219V;ENSP00000399401:I1180V;ENSP00000364564:I1180V;ENSP00000364557:I992V;ENSP00000167825:I922V	ENSP00000167825:I922V	I	+	1	0	ARHGEF10L	17896277	0.236000	0.23804	1.000000	0.80357	0.993000	0.82548	0.608000	0.24223	0.461000	0.27071	-0.119000	0.15052	ATC		0.682	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		G	18023690	A	G	18023690	3	3	59	1	0	0	0	0	1	0	0	0	895	217	8	4	3765	4	ARHGEF10L	1	18023690	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10		18023690	231226931	1	5845											
KIF17	57576	broad.mit.edu;mdanderson.org	37	chr1	21014271	21014271	+	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	tccgcaaacctggaggaaacCtgagtcttggagacatcgtc	11	8	11	11	2	1	2	0	1	1	1	4	5	2	4	3	3	2	1	3	3	2	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:21014271C>T	ENST00000247986.2	-	8	1858	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	KIF17_ENST00000375044.1_Silent_p.Q416Q|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.Q516Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	516					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)		TGGAGGAAACCTGAGTCTTGG	0.542																																						.											0													83	80	81					1																	21014271		2203	4300	6503	SO:0001819	synonymous_variant	57576			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.1548G>A	1.37:g.21014271C>T			A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.542	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		T	21014271	C	T	21014271	2	4	59	1	0	0	0	0	0	0	0	1	8279	680	24	4		4	KIF17	1	21014271	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	2990581	21014271	228236350	2	5846											
RBMXL1	494115	mdanderson.org	37	chr1	89449141	89449141	+	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	tccatgtgtcctcctcgtgaAggaggtcccctggttcctcc	4	12	10	15	1	0	1	0	1	0	0	7	2	6	2	7	3	0	1	7	3	1	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:89449141A>G	ENST00000321792.5	-	2	796	c.369T>C	c.(367-369)ccT>ccC	p.P123P	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Silent_p.P123P|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	123					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTCCTCGTGAAGGAGGTCCCC	0.512																																						.											0													104	112	110					1																	89449141		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.369T>C	1.37:g.89449141A>G				Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89449141	A	G	89449141	2	3	59	1	0	0	0	0	0	0	0	1	13153	59	3	2		2	RBMXL1	1	89449141	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	68434870	89449141	159801480	3	5847											
VANGL1	81839	broad.mit.edu	37	chr1	116226629	116226630	+	Frame_Shift_Ins	INS	-	-	A																															cagctgctcggcgcagggacINStcaagccacaacgagttgta																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:116226629_116226630insA	ENST00000355485.2	+	6	1282_1283	c.1011_1012insA	c.(1012-1014)tcafs	p.S338fs	VANGL1_ENST00000369509.1_Frame_Shift_Ins_p.S338fs|VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000310260.3_Frame_Shift_Ins_p.S338fs|VANGL1_ENST00000369510.4_Frame_Shift_Ins_p.S336fs	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	338					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGCGCAGGGACTCAAGCCACAA	0.52																																						.											0																																										SO:0001589	frameshift_variant	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	Exception_encountered	1.37:g.116226629_116226630insA	ENSP00000347672:p.Ser338fs		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Frame_Shift_Ins	INS	ENST00000355485.2	37	CCDS883.1																																																																																				0.52	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			A	116226630	-	A	116226629	7	5	59	1	0	1	1	0	0	0	0	0	17116	564	20	0	1029	0	VANGL1	1	116226629	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	26777488	116226629	133023992	4	5848											
IGSF3	3321	mdanderson.org	37	chr1	117158772	117158772	+	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	ctgggtgtgtggcattcataCtccccggcatcccgggcctg	4	10	13	14	2	1	0	1	0	0	0	3	0	3	0	4	4	1	2	4	4	1	2			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:117158772C>T	ENST00000369486.3	-	3	1116	c.351G>A	c.(349-351)gaG>gaA	p.E117E	IGSF3_ENST00000318837.6_Silent_p.E117E|IGSF3_ENST00000369483.1_Silent_p.E117E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	117	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E117E(2)		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)		GGCATTCATACTCCCCGGCAT	0.527																																						.											2	Substitution - coding silent(2)	endometrium(2)											56	51	53					1																	117158772		2203	4300	6503	SO:0001819	synonymous_variant	3321			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.351G>A	1.37:g.117158772C>T			A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																				0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117158772	C	T	117158772	2	4	59	1	0	0	0	0	0	0	0	1	7601	564	20	4		4	IGSF3	1	117158772	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	932143	117158772	132091849	5	5849											
NBPF14	25832	mdanderson.org	37	chr1	148004733	148004733	+	Missense_Mutation	SNP	T	T	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	tgacggagtcgaataacataTatccagtgagtcctgcaaga	14	9	10	8	2	0	3	0	2	0	1	3	5	2	4	2	1	2	1	2	1	5	3	rs78149412	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:148004733T>C	ENST00000369219.1	-	22	2597	c.2581A>G	c.(2581-2583)Ata>Gta	p.I861V				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	861	NBPF 10. {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)					GAATAACATATATCCAGTGAG	0.443													-|||	115	0.0229633	0.0741	0.0072	5008	,	,		21040	0		0.008	False		,,,				2504	0.0041					.											0													136	204	182					1																	148004733		1971	4174	6145	SO:0001583	missense	25832			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.2581A>G	1.37:g.148004733T>C	ENSP00000358221:p.Ile861Val		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	0.096|0.096	-1.159114|-1.159114	0.01686|0.01686	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000369368	.|T	.|0.05786	.|3.39	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00666|0.00666	0.0022|0.0022	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14012	.|0.0;0.009;0.005	.|B;B;B	.|0.11329	.|0.001;0.006;0.006	T|T	0.46442|0.46442	-0.9191|-0.9191	3|7	.|0.51188	.|T	.|0.08	.|.	.|.	.|.	.|.	.|.	.|209;842;861	.|F8WEX8;B4DH59;Q5TI25	.|.;.;NBPFE_HUMAN	M|V	866|861;209	.|ENSP00000358221:I861V	.|ENSP00000358221:I861V	I|I	-|-	3|1	3|0	NBPF14|NBPF14	146471357|146471357	0.689000|0.689000	0.27690|0.27690	0.004000|0.004000	0.12327|0.12327	0.022000|0.022000	0.10575|0.10575	-0.736000|-0.736000	0.04882|0.04882	-0.512000|-0.512000	0.06505|0.06505	0.055000|0.055000	0.15244|0.15244	ATA|ATA		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148004733	T	C	148004733	3	2	59	1	0	0	0	0	1	0	0	0	10194	1406	49	4	188	4	NBPF14	1	148004733	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	30845961	148004733	101245888	6	5850											
PKLR	5313	broad.mit.edu	37	chr1	155270047	155270048	+	Frame_Shift_Ins	INS	-	-	C																															ggtcagttgggccacactggINScccgccgcagataccccgct																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:155270047_155270048insC	ENST00000342741.4	-	2	162_163	c.124_125insG	c.(124-126)gccfs	p.A42fs	PKLR_ENST00000392414.3_Frame_Shift_Ins_p.A11fs	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	42					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGCCACACTGGCCCGCCGCAGA	0.629																																						.											0																																										SO:0001589	frameshift_variant	5313			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.125dupG	1.37:g.155270050_155270050dupC	ENSP00000339933:p.Ala42fs		O75758|P11973	Frame_Shift_Ins	INS	ENST00000342741.4	37	CCDS1109.1																																																																																				0.629	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		C	155270048	-	C	155270047	7	5	59	1	0	1	1	0	0	0	0	0	11976	1203	42	0	1639	0	PKLR	1	155270047	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	7265314	155270047	93980574	7	5851											
HDGF	3068	ucsc.edu	37	chr1	156721154	156721154	+	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	cccgggccggccagtgtgggTagcccttcatcttggcgaac	5	8	14	14	3	2	0	1	0	1	0	2	1	2	0	4	4	2	1	4	4	2	3			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:156721154T>G	ENST00000357325.5	-	1	382	c.68A>C	c.(67-69)tAc>tCc	p.Y23S	HDGF_ENST00000416666.2_5'Flank|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368209.5_Intron|HDGF_ENST00000537739.1_Missense_Mutation_p.Y23S|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000368206.5_Intron	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	23	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CCAGTGTGGGTAGCCCTTCAT	0.721																																						.											0													37	36	36					1																	156721154		2203	4299	6502	SO:0001583	missense	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.68A>C	1.37:g.156721154T>G	ENSP00000349878:p.Tyr23Ser		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681376	0.47991	.	.	ENSG00000143321	ENST00000357325;ENST00000537739;ENST00000406805	T;T	0.74002	-0.8;-0.8	3.63	2.45	0.29901	PWWP (3);	.	.	.	.	T	0.79799	0.4508	M	0.86268	2.805	0.80722	D	1	P;D	0.67145	0.944;0.996	D;D	0.70227	0.968;0.957	T	0.80020	-0.1557	9	0.87932	D	0	.	7.5044	0.27536	0.1928:0.0:0.0:0.8072	.	23;23	B2RDE8;P51858	.;HDGF_HUMAN	S	23	ENSP00000349878:Y23S;ENSP00000443120:Y23S	ENSP00000349878:Y23S	Y	-	2	0	HDGF	154987778	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	5.215000	0.65241	0.374000	0.24650	0.477000	0.44152	TAC		0.721	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		G	156721154	T	G	156721154	3	3	59	1	0	0	0	0	1	0	0	0	7018	1638	57	5	678	5	HDGF	1	156721154	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	1451107	156721154	92529467	8	5852											
C1orf198	84886	ucsc.edu	37	chr1	231004156	231004156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccatggggctcagcgAcgagaagtaagtgaagcgct	10	6	15	10	3	1	2	1	1	0	1	1	4	1	2	2	3	2	3	2	3	3	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:231004156A>G	ENST00000366663.5	-	1	243	c.103T>C	c.(103-105)Tcg>Ccg	p.S35P	C1orf198_ENST00000470540.1_Intron|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	35						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)				GGGCTCAGCGACGAGAAGTAA	0.682																																						.											0													22	27	26					1																	231004156		2202	4300	6502	SO:0001583	missense	84886			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.103T>C	1.37:g.231004156A>G	ENSP00000355623:p.Ser35Pro		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	a	27.1	4.796512	0.90453	.	.	ENSG00000119280	ENST00000366663	T	0.42131	0.98	3.63	2.47	0.30058	.	0.000000	0.64402	U	0.000003	T	0.57184	0.2036	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.57312	-0.7833	10	0.87932	D	0	.	9.652	0.39904	0.8238:0.1762:0.0:0.0	.	35	Q9H425	CA198_HUMAN	P	35	ENSP00000355623:S35P	ENSP00000355623:S35P	S	-	1	0	C1orf198	229070779	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.272000	0.78516	0.431000	0.26258	0.375000	0.23000	TCG		0.682	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		G	231004156	A	G	231004156	3	3	59	1	0	0	0	0	1	0	0	0	2026	275	10	2	896	2	C1orf198	1	231004156	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	74283002	231004156	18246465	9	5853											
GTF3C2	2976	broad.mit.edu;ucsc.edu	37	chr2	27550102	27550102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagaatgcccctctcccTcctgcatgcgcagcattggt	6	11	10	14	1	1	1	0	1	1	1	3	2	2	1	4	1	4	4	4	1	1	2			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:27550102T>C	ENST00000359541.2	-	18	2888	c.2459A>G	c.(2458-2460)gAg>gGg	p.E820G	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E820G|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	820					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTCTCCCTCCTGCATGCG	0.532																																						.											0													78	66	70					2																	27550102		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2459A>G	2.37:g.27550102T>C	ENSP00000352536:p.Glu820Gly		D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.54|16.54	3.150979|3.150979	0.57151|0.57151	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000431028;ENST00000454704;ENST00000415683	T;T|.	0.73469|.	-0.75;-0.75|.	4.95|4.95	3.77|3.77	0.43336|0.43336	WD40 repeat-like-containing domain (1);|.	0.490106|.	0.22812|.	N|.	0.055334|.	T|T	0.30634|0.30634	0.0771|0.0771	N|N	0.14661|0.14661	0.345|0.345	0.33213|0.33213	D|D	0.553678|0.553678	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38520|0.38520	-0.9657|-0.9657	10|5	0.28530|.	T|.	0.3|.	-9.0314|-9.0314	7.4656|7.4656	0.27320|0.27320	0.2122:0.0:0.0:0.7878|0.2122:0.0:0.0:0.7878	.|.	820|.	Q8WUA4|.	TF3C2_HUMAN|.	G|G	820|35;329;243	ENSP00000352536:E820G;ENSP00000264720:E820G|.	ENSP00000264720:E820G|.	E|R	-|-	2|1	0|2	GTF3C2|GTF3C2	27403606|27403606	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	0.549000|0.549000	0.23329|0.23329	0.876000|0.876000	0.35872|0.35872	0.529000|0.529000	0.55759|0.55759	GAG|AGG		0.532	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			C	27550102	T	C	27550102	3	2	59	1	0	0	0	0	1	0	0	0	6873	1551	54	2	284	2	GTF3C2	2	27550102	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10		27550102	215649271	10	5854											
ALK	238	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr2	29416536	29416536	+	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	tgccatattcacgtgtccccCttccacggccggccctctag	5	10	8	18	3	2	0	1	0	1	0	4	0	4	0	6	2	1	0	6	2	2	4			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:29416536C>T	ENST00000389048.3	-	29	5323	c.4417G>A	c.(4417-4419)Ggg>Agg	p.G1473R	ALK_ENST00000431873.1_Missense_Mutation_p.G303R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1473					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)	p.V1471fs*45(1)	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)	ACGTGTCCCCCTTCCACGGCC	0.582			"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																													.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	1	Deletion - Frameshift(1)	pancreas(1)											101	104	103					2																	29416536		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	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.4417G>A	2.37:g.29416536C>T	ENSP00000373700:p.Gly1473Arg		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.244136	0.22796	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77620	-1.11;2.59	5.64	3.81	0.43845	.	0.137965	0.32671	N	0.005794	T	0.65565	0.2703	L	0.36672	1.1	0.38337	D	0.943963	B	0.23735	0.09	B	0.21917	0.037	T	0.58875	-0.7559	10	0.23302	T	0.38	.	9.4229	0.38561	0.0:0.7747:0.1491:0.0762	.	1473	Q9UM73	ALK_HUMAN	R	1473;303	ENSP00000373700:G1473R;ENSP00000414027:G303R	ENSP00000373700:G1473R	G	-	1	0	ALK	29270040	0.999000	0.42202	0.449000	0.26957	0.022000	0.10575	5.497000	0.66924	0.716000	0.32124	0.556000	0.70494	GGG		0.582	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		T	29416536	C	T	29416536	3	4	59	1	0	0	0	0	1	0	0	0	525	681	24	4	449	4	ALK	2	29416536	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	1866434	29416536	213782837	11	5855											
IMMT	10989	broad.mit.edu	37	chr2	86374840	86374840	+	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	ctcacctgctcaaattcagaCttcaattcctgttcttgtac	9	15	4	13	0	5	1	4	0	1	1	6	1	6	1	2	0	2	3	2	0	3	6			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:86374840C>T	ENST00000410111.3	-	13	1905	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	IMMT_ENST00000449247.2_Silent_p.K495K|IMMT_ENST00000254636.5_Silent_p.K407K|IMMT_ENST00000409051.2_Silent_p.K459K|IMMT_ENST00000442664.2_Silent_p.K505K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	506					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAAATTCAGACTTCAATTCCT	0.488																																						.											0													110	109	109					2																	86374840		1983	4152	6135	SO:0001819	synonymous_variant	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1518G>A	2.37:g.86374840C>T			B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573397	0.13623	.	.	ENSG00000132305	ENST00000419070	.	.	.	6.17	0.529	0.17095	.	.	.	.	.	T	0.69233	0.3088	.	.	.	0.42153	D	0.991561	.	.	.	.	.	.	T	0.67995	-0.5526	4	.	.	.	-24.7055	16.3409	0.83081	0.0:0.8147:0.0:0.1853	.	.	.	.	I	361	.	.	V	-	1	0	IMMT	86228351	0.003000	0.15002	0.512000	0.27736	0.993000	0.82548	-0.013000	0.12678	-0.109000	0.12044	0.655000	0.94253	GTC		0.488	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		T	86374840	C	T	86374840	2	4	59	1	0	0	0	0	0	0	0	1	7718	564	20	4		4	IMMT	2	86374840	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	56958304	86374840	156824533	12	5856											
PCDP1	200373	ucsc.edu	37	chr2	120397411	120397411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtccctggttctctccTccctgccggacccctccaag	4	10	7	20	1	1	0	0	0	1	0	7	1	6	1	8	2	1	1	8	2	1	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:120397411T>C	ENST00000413369.3	+	21	2275	c.2188T>C	c.(2188-2190)Tcc>Ccc	p.S730P	PCDP1_ENST00000602047.1_Missense_Mutation_p.S444P	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GGTTCTCTCCTCCCTGCCGGA	0.493																																						.											0													95	94	94					2																	120397411		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.2188T>C	2.37:g.120397411T>C	ENSP00000393222:p.Ser730Pro			Missense_Mutation	SNP	ENST00000413369.3	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067453	0.55539	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.18960	2.18	5.07	-4.22	0.03800	.	1.174140	0.06179	N	0.679050	T	0.28732	0.0712	L	0.52573	1.65	0.09310	N	1	D	0.58970	0.984	P	0.59056	0.851	T	0.39941	-0.9589	10	0.54805	T	0.06	-1.9503	4.2765	0.10811	0.1332:0.1104:0.5434:0.213	.	730	Q4G0U5	PCDP1_HUMAN	P	444;730	ENSP00000393222:S730P	ENSP00000295220:S444P	S	+	1	0	AC069154.2	120113881	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.133000	0.15912	-0.261000	0.09405	-1.236000	0.01555	TCC		0.493	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			C	120397411	T	C	120397411	3	2	59	1	0	0	0	0	1	0	0	0	11572	1551	54	2	1380	2	PCDP1	2	120397411	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	34022571	120397411	122801962	13	5857											
POTEE	445582	broad.mit.edu	37	chr2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A																															tggaggatattgaaagtgtgINSaaaaaaaagaatgataatct																								rs200735283	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:132021077_132021078insA	ENST00000356920.5	+	15	2143_2144	c.2049_2050insA	c.(2050-2052)aaafs	p.K684fs	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	684					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTGAAAGTGTGAAAAAAAAGAA	0.416																																						.											0																																										SO:0001589	frameshift_variant	445582			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.2057dupA	2.37:g.132021085_132021085dupA	ENSP00000439189:p.Lys684fs		Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Ins	INS	ENST00000356920.5	37	CCDS46414.1																																																																																				0.416	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021078	-	A	132021077	7	5	59	1	0	1	1	0	0	0	0	0	12264	1277	45	0	2107	0	POTEE	2	132021077	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	11623666	132021077	111178296	14	5858											
UBR3	130507	mdanderson.org	37	chr2	170684548	170684548	+	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	gactgcggggacagcaacgtGatgcgggagagcgggtgagt	9	5	20	7	4	0	3	0	2	0	1	0	6	0	4	0	4	5	1	0	4	1	0	rs79036304	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:170684548G>A	ENST00000272793.5	+	1	581	c.531G>A	c.(529-531)gtG>gtA	p.V177V	UBR3_ENST00000418381.1_Silent_p.V177V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	177					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						ACAGCAACGTGATGCGGGAGA	0.726													g|||	320	0.0638978	0.174	0.0461	5008	,	,		9387	0.0109		0.0258	False		,,,				2504	0.0215					.											0													6	6	6					2																	170684548		685	1551	2236	SO:0001819	synonymous_variant	130507			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.531G>A	2.37:g.170684548G>A			B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37																																																																																					0.726	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170684548	G	A	170684548	2	1	59	1	0	0	0	0	0	0	0	1	16900	1277	45	4		4	UBR3	2	170684548	Silent	SNP	G	TCGA-KO-8409-01A-11D-2310-10	38663471	170684548	72514825	15	5859											
SATB2	23314	broad.mit.edu	37	chr2	200136984	200136984	+	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	cttgcttttgtcagcattttCctcctcagcctccactttgt	4	18	5	14	0	2	0	2	0	0	0	5	0	5	0	4	0	3	2	4	0	0	6			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:200136984C>T	ENST00000417098.1	-	11	2968	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	SATB2_ENST00000260926.5_Missense_Mutation_p.E718K|SATB2_ENST00000443023.1_Missense_Mutation_p.E659K|SATB2_ENST00000457245.1_Missense_Mutation_p.E718K|SATB2_ENST00000428695.1_Missense_Mutation_p.E600K	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	718					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCAGCATTTTCCTCCTCAGCC	0.502																																					Colon(30;262 767 11040 24421 36230)	.											0													127	122	123					2																	200136984		2203	4300	6503	SO:0001583	missense	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2152G>A	2.37:g.200136984C>T	ENSP00000401112:p.Glu718Lys		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353580	0.41700	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.82;0.81	5.63	5.63	0.86233	.	0.213619	0.39834	N	0.001259	T	0.36082	0.0954	N	0.14661	0.345	0.46376	D	0.999013	B;B	0.26002	0.139;0.004	B;B	0.22152	0.038;0.004	T	0.14839	-1.0458	10	0.51188	T	0.08	-6.9461	20.0401	0.97581	0.0:1.0:0.0:0.0	.	600;718	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	K	718;659;718;600;718	ENSP00000401112:E718K;ENSP00000388764:E659K;ENSP00000260926:E718K;ENSP00000388581:E600K;ENSP00000405420:E718K	ENSP00000260926:E718K	E	-	1	0	SATB2	199845229	1.000000	0.71417	0.991000	0.47740	0.115000	0.19883	4.034000	0.57289	2.805000	0.96524	0.655000	0.94253	GAA		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		T	200136984	C	T	200136984	3	4	59	1	0	0	0	0	1	0	0	0	13854	864	30	3	53	3	SATB2	2	200136984	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	29452436	200136984	43062389	16	5860											
NCL	4691	broad.mit.edu	37	chr2	232322444	232322444	+	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	aatagatcgcccatcgatctCtgttccctgcttttcttcaa	8	15	5	13	2	3	1	1	0	2	1	7	2	4	1	2	0	1	2	2	0	3	5			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:232322444C>T	ENST00000322723.4	-	9	1597	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SNORD82_ENST00000365530.1_RNA|SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	453	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		CCATCGATCTCTGTTCCCTGC	0.393																																						.											0													168	152	157					2																	232322444		2203	4300	6503	SO:0001583	missense	4691				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.1357G>A	2.37:g.232322444C>T	ENSP00000318195:p.Glu453Lys		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498117	0.96355	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;T	0.15718	2.4;2.4	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044956	0.85682	D	0.000000	T	0.27594	0.0678	N	0.13140	0.3	0.80722	D	1	D	0.61697	0.99	D	0.77004	0.989	T	0.11817	-1.0572	10	0.51188	T	0.08	-23.3514	18.4237	0.90602	0.0:1.0:0.0:0.0	.	453	P19338	NUCL_HUMAN	K	453;345;225;54	ENSP00000318195:E453K;ENSP00000349410:E54K	ENSP00000318195:E453K	E	-	1	0	NCL	232030688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.087000	0.76893	2.587000	0.87381	0.558000	0.71614	GAG		0.393	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		T	232322444	C	T	232322444	3	4	59	1	0	0	0	0	1	0	0	0	10226	922	32	4	799	4	NCL	2	232322444	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	32185460	232322444	10876929	17	5861											
SMARCC1	6599	bcgsc.ca	37	chr3	47651783	47651783	+	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	gttccatgtggaagttttggCgttcagtaagcaactgctgc	8	13	12	8	1	1	0	1	0	0	0	2	1	2	1	1	2	4	6	1	2	3	5			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:47651783C>G	ENST00000254480.5	-	26	2935	c.2816G>C	c.(2815-2817)cGc>cCc	p.R939P	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	939					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|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)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GAAGTTTTGGCGTTCAGTAAG	0.478																																						.											0													240	217	225					3																	47651783		2203	4300	6503	SO:0001583	missense	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2816G>C	3.37:g.47651783C>G	ENSP00000254480:p.Arg939Pro		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609456	0.66558	.	.	ENSG00000173473	ENST00000254480	T	0.26810	1.71	6.06	6.06	0.98353	.	0.167377	0.53938	D	0.000049	T	0.63838	0.2545	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71013	-0.4715	10	0.87932	D	0	-4.7931	19.6164	0.95636	0.0:1.0:0.0:0.0	.	939	Q92922	SMRC1_HUMAN	P	939	ENSP00000254480:R939P	ENSP00000254480:R939P	R	-	2	0	SMARCC1	47626787	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	7.783000	0.85696	2.871000	0.98454	0.655000	0.94253	CGC		0.478	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			G	47651783	C	G	47651783	3	3	59	1	0	0	0	0	1	0	0	0	14775	768	27	5	513	5	SMARCC1	3	47651783	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10		47651783	150370647	18	5862											
TSC22D2	9819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	150127405	150127405	+	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	ccgtctccccaaacctcctcCtagatgggcagctggcagcg	7	7	10	17	2	1	1	0	0	1	1	4	1	3	1	6	2	3	3	6	2	2	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:150127405C>T	ENST00000361875.3	+	1	1284	c.268C>T	c.(268-270)Cta>Tta	p.L90L	TSC22D2_ENST00000361136.2_Silent_p.L90L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	90					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAACCTCCTCCTAGATGGGCA	0.662																																						.											0													17	20	19					3																	150127405		2203	4298	6501	SO:0001819	synonymous_variant	9819			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.268C>T	3.37:g.150127405C>T			D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Silent	SNP	ENST00000361875.3	37	CCDS3149.1																																																																																				0.662	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		T	150127405	C	T	150127405	2	4	59	1	0	0	0	0	0	0	0	1	16605	680	24	4		4	TSC22D2	3	150127405	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	102475622	150127405	47895025	19	5863											
CPZ	8532	mdanderson.org	37	chr4	8594574	8594574	+	Missense_Mutation	SNP	T	T	C																															ccccaccatgccgcccccgcTgccgctgctgctccttacag																								rs2302583	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:8594574T>C	ENST00000360986.4	+	1	188	c.14T>C	c.(13-15)cTg>cCg	p.L5P	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.L5P|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	5			L -> P (in dbSNP:rs2302583). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9099699}.		proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L5delL(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGCCCCCGCTGCCGCTGCTG	0.761													C|||	4037	0.80611	0.8283	0.8761	5008	,	,		9685	0.9127		0.7406	False		,,,				2504	0.684					.											1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											2	3	3					4																	8594574		1502	3213	4715	SO:0001583	missense	8532			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.14T>C	4.37:g.8594574T>C	ENSP00000354255:p.Leu5Pro		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	1777	0.8136446886446886	382	0.7764227642276422	312	0.861878453038674	522	0.9125874125874126	561	0.7401055408970977	C	3.283	-0.146655	0.06627	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.59906	0.56;0.23	1.98	1.1	0.20463	.	4.658350	0.01367	N	0.012429	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48210	-0.9055	9	0.49607	T	0.09	.	2.6287	0.04938	0.2816:0.5468:0.0:0.1716	rs2302583;rs56744501	5;5	Q66K79-2;Q66K79	.;CBPZ_HUMAN	P	5	ENSP00000354255:L5P;ENSP00000315074:L5P	ENSP00000315074:L5P	L	+	2	0	CPZ	8645474	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-0.680000	0.05197	0.000000	0.14550	-0.355000	0.07637	CTG		0.761	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		C	8594574	T	C	8594574	3	2	59	1	0	0	0	0	1	0	0	0	3839	1580	55	2	16	2	CPZ	4	8594574	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10		8594574	182559702	20	5864	156	2									
CPZ	8532	mdanderson.org	37	chr4	8594577	8594577	+	Missense_Mutation	SNP	C	C	T																															caccatgccgcccccgctgcCgctgctgctccttacagtcc																								rs34964084	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:8594577C>T	ENST00000360986.4	+	1	191	c.17C>T	c.(16-18)cCg>cTg	p.P6L	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.P6L|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	6			P -> L (in dbSNP:rs34964084). {ECO:0000269|PubMed:9099699}.		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						CCCCCGCTGCCGCTGCTGCTC	0.756													C|||	655	0.130791	0.025	0.1931	5008	,	,		9673	0.1617		0.2366	False		,,,				2504	0.089					.											0								C	,LEU/PRO,LEU/PRO	101,2957		1,99,1429	2	3	3		,17,17	-0.6	0	4	dbSNP_126	3	811,5659		38,735,2462	no	utr-5,missense,missense	CPZ	NM_001014448.2,NM_003652.3,NM_001014447.2	,98,98	39,834,3891	TT,TC,CC		12.5348,3.3028,9.5718	,benign,benign	,6/642,6/653	8594577	912,8616	1529	3235	4764	SO:0001583	missense	8532			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.17C>T	4.37:g.8594577C>T	ENSP00000354255:p.Pro6Leu		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	352	0.16117216117216118	16	0.032520325203252036	78	0.2154696132596685	77	0.1346153846153846	181	0.23878627968337732	C	0.003	-2.482788	0.00163	0.033028	0.125348	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.56776	0.68;0.44	1.87	-0.596	0.11657	.	2.196060	0.02795	N	0.122470	T	0.00012	0.0000	N	0.14661	0.345	0.38383	P	0.054822999999999955	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.06826	-1.0805	9	0.02654	T	1	.	4.365	0.11220	0.0:0.4294:0.0:0.5706	rs34964084	6;6	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	6	ENSP00000354255:P6L;ENSP00000315074:P6L	ENSP00000315074:P6L	P	+	2	0	CPZ	8645477	0.001000	0.12720	0.014000	0.15608	0.073000	0.16967	0.039000	0.13884	-0.198000	0.10333	-0.379000	0.06801	CCG		0.756	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8594577	C	T	8594577	3	4	59	1	0	0	0	0	1	0	0	0	3839	652	23	1	19	1	CPZ	4	8594577	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	3	8594577	182559699	21	5865	156	2									
G3BP2	9908	broad.mit.edu	37	chr4	76570758	76570758	+	Frame_Shift_Del	DEL	A	A	-																															cccacaattccacgtggaccAccgggacctcgatcattgcg																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:76570758delA	ENST00000359707.4	-	12	2090	c.1305delT	c.(1303-1305)ggtfs	p.G436fs	G3BP2_ENST00000395719.3_Frame_Shift_Del_p.G436fs|G3BP2_ENST00000357854.3_Frame_Shift_Del_p.G403fs	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	436	Gly-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CACGTGGACCACCGGGACCTC	0.522																																						.											0													267	208	228					4																	76570758		2203	4300	6503	SO:0001589	frameshift_variant	9908			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1305delT	4.37:g.76570758delA	ENSP00000352738:p.Gly436fs		A8K6X1|O60606|O75149|Q9UPA1	Frame_Shift_Del	DEL	ENST00000359707.4	37	CCDS3571.1																																																																																				0.522	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		-	76570758	A	-	76570758	7	5	59	1	0	1	0	1	0	0	0	0	6142	146	6	0	147	0	G3BP2	4	76570758	Frame_Shift_Del	DEL	A	TCGA-KO-8409-01A-11D-2310-10	67976181	76570758	114583518	22	5866											
ANTXR2	118429	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr4	80954628	80954628	+	Missense_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	agattactggggacctactcGttgtatatgtttcatttaca	10	16	8	7	1	1	1	1	0	0	1	2	2	1	2	1	2	3	3	1	2	5	8	rs529468896		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:80954628G>A	ENST00000307333.7	-	9	796	c.794C>T	c.(793-795)aCg>aTg	p.T265M	ANTXR2_ENST00000295465.4_Missense_Mutation_p.T265M|ANTXR2_ENST00000403729.2_Missense_Mutation_p.T265M|ANTXR2_ENST00000404191.1_Missense_Mutation_p.T188M|ANTXR2_ENST00000346652.6_Intron	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	265					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						GGACCTACTCGTTGTATATGT	0.393									Juvenile Hyaline Fibromatosis																													.											0													88	85	86					4																	80954628		1900	4128	6028	SO:0001583	missense	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	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.794C>T	4.37:g.80954628G>A	ENSP00000306185:p.Thr265Met		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	5.659	0.306184	0.10733	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333;ENST00000295465	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.71	-2.12	0.07165	Anthrax toxin receptor, extracellular (1);	1.064330	0.07177	N	0.853341	T	0.66107	0.2756	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.008	B;B	0.12837	0.008;0.005	T	0.51980	-0.8636	10	0.37606	T	0.19	-3.045	3.0427	0.06143	0.5656:0.0806:0.1079:0.2459	.	265;265	P58335;P58335-4	ANTR2_HUMAN;.	M	265;188;265;265	ENSP00000385575:T265M;ENSP00000384028:T188M;ENSP00000306185:T265M;ENSP00000295465:T265M	ENSP00000295465:T265M	T	-	2	0	ANTXR2	81173652	0.000000	0.05858	0.072000	0.20136	0.218000	0.24690	-0.664000	0.05292	-0.133000	0.11537	-0.347000	0.07816	ACG		0.393	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		A	80954628	G	A	80954628	3	1	59	1	0	0	0	0	1	0	0	0	712	1145	40	1	750	1	ANTXR2	4	80954628	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	4383870	80954628	110199648	23	5867											
PDHA2	5161	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	96761794	96761794	+	Missense_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	tctatgggggcaatggcatcGtcggtgcacagggccccctg	6	8	15	12	2	1	0	0	0	1	0	3	0	1	0	2	5	1	3	2	5	2	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:96761794G>A	ENST00000295266.4	+	1	556	c.493G>A	c.(493-495)Gtc>Atc	p.V165I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					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)	p.V165I(1)		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)		CAATGGCATCGTCGGTGCACA	0.507																																						.											1	Substitution - Missense(1)	lung(1)											69	71	71					4																	96761794		2203	4300	6503	SO:0001583	missense	5161				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.493G>A	4.37:g.96761794G>A	ENSP00000295266:p.Val165Ile		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659398	0.47467	.	.	ENSG00000163114	ENST00000295266	D	0.95853	-3.83	4.67	4.67	0.58626	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	M	0.68952	2.095	0.80722	D	1	P	0.43750	0.816	B	0.34873	0.191	D	0.94488	0.7699	10	0.87932	D	0	-1.6001	15.4624	0.75369	0.0:0.0:1.0:0.0	.	165	P29803	ODPAT_HUMAN	I	165	ENSP00000295266:V165I	ENSP00000295266:V165I	V	+	1	0	PDHA2	96980817	1.000000	0.71417	0.849000	0.33467	0.107000	0.19398	8.809000	0.91944	2.587000	0.87381	0.467000	0.42956	GTC		0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			A	96761794	G	A	96761794	3	1	59	1	0	0	0	0	1	0	0	0	11665	1145	40	1	495	1	PDHA2	4	96761794	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	15807166	96761794	94392482	24	5868											
NEUROG2	63973	mdanderson.org	37	chr4	113436044	113436044	+	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	ctgctcagggcggcgctggcTcctcccgggctcagcaacac	5	6	13	17	3	2	0	2	0	0	0	4	0	4	0	2	4	3	5	2	4	1	0	rs901474	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:113436044T>G	ENST00000313341.3	-	2	914	c.588A>C	c.(586-588)ggA>ggC	p.G196G	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	196					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGCGCTGGCTCCTCCCGGGC	0.731													G|||	4797	0.957867	0.9955	0.9337	5008	,	,		9350	1		0.8628	False		,,,				2504	0.9785					.											0								G		4270,104		2083,104,0	17	21	19		588	-1.3	0	4	dbSNP_86	19	7351,1195		3177,997,99	no	coding-synonymous	NEUROG2	NM_024019.2		5260,1101,99	GG,GT,TT		13.9832,2.3777,10.0542		196/273	113436044	11621,1299	2187	4273	6460	SO:0001819	synonymous_variant	63973			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.588A>C	4.37:g.113436044T>G			Q8N416	Silent	SNP	ENST00000313341.3	37	CCDS3698.1																																																																																				0.731	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		G	113436044	T	G	113436044	2	3	59	1	0	0	0	0	0	0	0	1	10353	1538	54	5		5	NEUROG2	4	113436044	Silent	SNP	T	TCGA-KO-8409-01A-11D-2310-10	16674250	113436044	77718232	25	5869											
FRG1	2483	mdanderson.org	37	chr4	190873379	190873379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatagccattgaaatggatAagggaacctatatacatgca	16	9	8	8	0	0	1	0	1	0	0	0	3	0	3	3	2	4	1	3	2	7	6	rs112612436		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:190873379A>G	ENST00000226798.4	+	3	418	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	66			K -> E (in dbSNP:rs17406826).		mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K66E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAATGGATAAGGGAACCTA	0.383																																						.											1	Substitution - Missense(1)	skin(1)											101	115	110					4																	190873379		2203	4298	6501	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.196A>G	4.37:g.190873379A>G	ENSP00000226798:p.Lys66Glu		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608104	0.28623	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.07;0.93	3.47	2.23	0.28157	Actin cross-linking (1);	0.148940	0.64402	D	0.000013	T	0.29288	0.0729	L	0.52011	1.625	0.42341	D	0.992332	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.06757	T	0.87	-8.6418	8.2577	0.31766	0.7983:0.2017:0.0:0.0	rs17406826	66	Q14331	FRG1_HUMAN	E	66;3	ENSP00000226798:K66E;ENSP00000435943:K3E	ENSP00000226798:K66E	K	+	1	0	FRG1	191110373	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.931000	0.48932	0.668000	0.31126	0.441000	0.28932	AAG		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		G	190873379	A	G	190873379	3	3	59	1	0	0	0	0	1	0	0	0	6046	363	13	4	206	4	FRG1	4	190873379	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	77437335	190873379	280897	26	5870											
RNF145	153830	mdanderson.org	37	chr5	158630641	158630641	+	5'UTR	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	gccatgttgtttttttttttCtttttttttttcttggagaa	4	27	6	4	0	2	1	0	0	2	1	2	2	2	1	1	1	0	2	1	1	1	12	rs74770414|rs74841177|rs368977591		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:158630641C>T	ENST00000424310.2	-	0	344				RNF145_ENST00000520638.1_Silent_p.K9K|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000518802.1_Silent_p.K25K|RNF145_ENST00000521606.2_Silent_p.K12K|RNF145_ENST00000274542.2_Silent_p.K23K	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttttctttttttttt	0.363																																						.											0													32	34	33					5																	158630641		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-16G>A	5.37:g.158630641C>T			B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																				0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		T	158630641	C	T	158630641	1	4	59	0	1	0	0	0	0	0	0	0	13447	912	32	4		4	RNF145	5	158630641	5'UTR	SNP	C	TCGA-KO-8409-01A-11D-2310-10		158630641	22284619	27	5871											
GABRB2	2561	hgsc.bcm.edu	37	chr5	160886707	160886709	+	In_Frame_Del	DEL	CTT	CTT	-																															gtcactccgtgcacaaatgaCttcttatcgttcaggaaata																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:160886707_160886709delCTT	ENST00000393959.1	-	4	378_380	c.379_381delAAG	c.(379-381)aagdel	p.K127del	GABRB2_ENST00000353437.6_In_Frame_Del_p.K127del|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_In_Frame_Del_p.K64del|GABRB2_ENST00000274547.2_In_Frame_Del_p.K127del|GABRB2_ENST00000520240.1_In_Frame_Del_p.K127del			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	127					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)	GCACAAATGACTTCTTATCGTTC	0.458																																						.											0																																										SO:0001651	inframe_deletion	2561				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.379_381delAAG	5.37:g.160886710_160886712delCTT	ENSP00000377531:p.Lys127del		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	In_Frame_Del	DEL	ENST00000393959.1	37	CCDS4355.1																																																																																				0.458	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			-	160886709	CTT	-	160886707	7	5	59	1	0	1	0	1	0	0	0	0	6167	564	20	0	1185	0	GABRB2	5	160886707	In_Frame_Del	DEL	CTT	TCGA-KO-8409-01A-11D-2310-10	2256066	160886707	20028553	28	5872	157	2									
GABRB2	2561	bcgsc.ca	37	chr5	160886708	160886710	+	In_Frame_Del	DEL	CTT	CTT	-																															tcactccgtgcacaaatgacTtcttatcgttcaggaaatag																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:160886708_160886710delCTT	ENST00000393959.1	-	4	377_379	c.378_380delAAG	c.(376-381)aaaagg>aag	p.R127del	GABRB2_ENST00000353437.6_In_Frame_Del_p.R127del|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_In_Frame_Del_p.R64del|GABRB2_ENST00000274547.2_In_Frame_Del_p.R127del|GABRB2_ENST00000520240.1_In_Frame_Del_p.R127del			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	127					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)	CACAAATGACTTCTTATCGTTCA	0.458																																						.											0																																										SO:0001651	inframe_deletion	2561				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.378_380delAAG	5.37:g.160886708_160886710delCTT	ENSP00000377531:p.Arg127del		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	In_Frame_Del	DEL	ENST00000393959.1	37	CCDS4355.1																																																																																				0.458	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			-	160886710	CTT	-	160886708	7	5	59	1	0	1	0	1	0	0	0	0	6167	1609	56	0	1186	0	GABRB2	5	160886708	In_Frame_Del	DEL	CTT	TCGA-KO-8409-01A-11D-2310-10	1	160886708	20028552	29	5873	157	2									
CAP2	10486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr6	17507412	17507412	+	Missense_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	gcttacagaatgacgtggccGcacttctgaaacccatatcg	11	9	9	12	3	1	3	0	2	1	1	2	3	1	3	2	1	2	2	2	1	4	3			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:17507412G>A	ENST00000229922.2	+	5	845	c.313G>A	c.(313-315)Gca>Aca	p.A105T	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T|CAP2_ENST00000465994.1_Missense_Mutation_p.A105T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	105					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.A105T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGACGTGGCCGCACTTCTGAA	0.473																																						.											1	Substitution - Missense(1)	lung(1)											73	74	74					6																	17507412		2203	4300	6503	SO:0001583	missense	10486			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.313G>A	6.37:g.17507412G>A	ENSP00000229922:p.Ala105Thr		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.850919	0.02651	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.11821	2.74;2.74;2.74	5.38	0.545	0.17190	Adenylate cyclase-associated CAP, N-terminal (2);	0.434279	0.27289	N	0.020054	T	0.01353	0.0044	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.09377	0.003;0.004;0.003	T	0.47471	-0.9115	10	0.14656	T	0.56	-3.1059	6.7367	0.23413	0.3309:0.0:0.553:0.1162	.	105;79;105	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	T	105;105;79;105	ENSP00000229922:A105T;ENSP00000368275:A79T;ENSP00000418604:A105T	ENSP00000229922:A105T	A	+	1	0	CAP2	17615391	0.000000	0.05858	0.273000	0.24645	0.024000	0.10985	-0.057000	0.11768	0.012000	0.14892	-1.181000	0.01715	GCA		0.473	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			A	17507412	G	A	17507412	3	1	59	1	0	0	0	0	1	0	0	0	2620	1087	38	1	327	1	CAP2	6	17507412	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10		17507412	153607655	30	5874											
KIAA0319	9856	mdanderson.org	37	chr6	24551664	24551664	+	Missense_Mutation	SNP	T	T	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	ttctgcagactgtcttaccaTatttgggcctcagttccatt	7	16	7	11	0	3	1	1	0	2	1	4	1	4	1	3	1	2	2	3	1	2	6	rs807534	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:24551664T>C	ENST00000378214.3	-	20	3562	c.3038A>G	c.(3037-3039)tAt>tGt	p.Y1013C	KIAA0319_ENST00000535378.1_Missense_Mutation_p.Y1004C|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Y968C|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Y1013C	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1013			Y -> C (in dbSNP:rs807534).		negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTCTTACCATATTTGGGCCT	0.423													T|||	485	0.096845	0.0832	0.0922	5008	,	,		20835	0.0764		0.1272	False		,,,				2504	0.1084					.											0								T	CYS/TYR,CYS/TYR,CYS/TYR,,CYS/TYR	415,3991	202.1+/-225.0	20,375,1808	351	275	301		3011,3038,2903,,3038	0.2	1	6	dbSNP_86	301	1149,7451	235.7+/-268.2	75,999,3226	yes	missense,missense,missense,intron,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	194,194,194,,194	95,1374,5034	CC,CT,TT		13.3605,9.419,12.0252	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	1004/1064,1013/1073,968/1028,,1013/1073	24551664	1564,11442	2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3038A>G	6.37:g.24551664T>C	ENSP00000367459:p.Tyr1013Cys		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	220	0.10073260073260074	43	0.08739837398373984	40	0.11049723756906077	38	0.06643356643356643	99	0.13060686015831136	T	14.94	2.686305	0.47991	0.09419	0.133605	ENSG00000137261	ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.56	0.197	0.15164	.	0.307026	0.26855	N	0.022150	T	0.08403	0.0209	L	0.48362	1.52	0.28285	P	0.9238074000000001	D;D	0.89917	1.0;0.999	D;P	0.65874	0.939;0.87	T	0.09640	-1.0665	9	0.38643	T	0.18	-14.3463	10.4006	0.44227	0.3848:0.0:0.0:0.6152	rs807534;rs52812688;rs56987247;rs807534	1004;1013	Q5VV43-2;Q5VV43	.;K0319_HUMAN	C	1004;968;1013;1013	ENSP00000442403:Y1004C;ENSP00000401086:Y968C;ENSP00000367459:Y1013C;ENSP00000437656:Y1013C	ENSP00000367459:Y1013C	Y	-	2	0	KIAA0319	24659643	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	1.674000	0.37544	0.216000	0.20781	0.454000	0.30748	TAT		0.423	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		C	24551664	T	C	24551664	3	2	59	1	0	0	0	0	1	0	0	0	8168	1406	49	4	188	4	KIAA0319	6	24551664	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	7044252	24551664	146563403	31	5875											
OR2W1	26692	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr6	29012270	29012270	+	Missense_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	gctggcttgcttttgacttcGttctcagcacagctttggca	5	15	10	11	1	1	1	1	1	1	0	3	1	1	1	0	2	3	7	0	2	0	6			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:29012270G>A	ENST00000377175.1	-	1	747	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228						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(6)|lung(12)|ovary(2)|skin(1)	23						TTTTGACTTCGTTCTCAGCAC	0.393																																						.											0													139	137	138					6																	29012270		1511	2709	4220	SO:0001583	missense	26692			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"GPCR / Class A : Olfactory receptors"	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.683C>T	6.37:g.29012270G>A	ENSP00000366380:p.Thr228Met		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621816	0.28889	.	.	ENSG00000204704	ENST00000377175	T	0.00048	8.82	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.095158	0.46758	N	0.000274	T	0.00012	0.0000	N	0.00517	-1.405	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.35671	T	0.21	.	9.4483	0.38710	0.914:0.0:0.086:0.0	.	228	Q9Y3N9	OR2W1_HUMAN	M	228	ENSP00000366380:T228M	ENSP00000366380:T228M	T	-	2	0	OR2W1	29120249	0.812000	0.29077	0.999000	0.59377	0.865000	0.49528	3.916000	0.56416	0.668000	0.31126	-0.332000	0.08345	ACG		0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			A	29012270	G	A	29012270	3	1	59	1	0	0	0	0	1	0	0	0	11032	1145	40	1	283	1	OR2W1	6	29012270	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	4460606	29012270	142102797	32	5876											
OR2J3	442186	mdanderson.org	37	chr6	29080088	29080088	+	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	attacactgtcctcatgcacCctcgtttctgccacctgctg	6	13	6	16	1	2	0	1	0	1	0	4	0	3	0	4	0	4	3	4	0	1	2			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:29080088C>T	ENST00000377169.1	+	1	421	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCTCATGCACCCTCGTTTCTG	0.517																																						.											0													385	415	405					6																	29080088		1399	2637	4036	SO:0001583	missense	442186				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.421C>T	6.37:g.29080088C>T	ENSP00000366374:p.Pro141Ser		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	6.734	0.504144	0.12822	.	.	ENSG00000204701	ENST00000377169	T	0.01369	4.97	2.76	0.879	0.19155	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	L	0.53729	1.69	0.09310	N	1	P	0.42375	0.778	B	0.40009	0.316	T	0.48822	-0.9001	9	0.56958	D	0.05	.	2.4912	0.04610	0.367:0.3596:0.0:0.2735	.	141	O76001	OR2J3_HUMAN	S	141	ENSP00000366374:P141S	ENSP00000366374:P141S	P	+	1	0	OR2J3	29188067	0.000000	0.05858	0.988000	0.46212	0.150000	0.21749	-2.750000	0.00793	0.483000	0.27608	-0.466000	0.05196	CCT		0.517	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			T	29080088	C	T	29080088	3	4	59	1	0	0	0	0	1	0	0	0	11004	623	22	3	423	3	OR2J3	6	29080088	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	67818	29080088	142034979	33	5877											
HLA-C	3107	mdanderson.org	37	chr6	31239006	31239006	+	Missense_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	gtccgcggcggtccaggagcGcaggtcctcgttcagggcga	5	6	17	13	6	1	0	1	0	0	0	5	2	4	1	3	5	1	2	3	5	0	1	rs76907552		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:31239006G>T	ENST00000376228.5	-	3	477	c.463C>A	c.(463-465)Cgc>Agc	p.R155S	HLA-C_ENST00000383329.3_Missense_Mutation_p.R155S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	155	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.R155S(1)		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						GTCCAGGAGCGCAGGTCCTCG	0.697																																						.											1	Substitution - Missense(1)	skin(1)											35	27	30					6																	31239006		2178	4236	6414	SO:0001583	missense	3107			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.463C>A	6.37:g.31239006G>T	ENSP00000365402:p.Arg155Ser		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	539|539	0.2467948717948718|0.2467948717948718	144|144	0.2926829268292683|0.2926829268292683	105|105	0.2900552486187845|0.2900552486187845	109|109	0.19055944055944055|0.19055944055944055	181|181	0.23878627968337732|0.23878627968337732	.|.	13.99|13.99	2.401987|2.401987	0.42613|0.42613	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00753	.|5.74;5.74	2.81|2.81	0.177|0.177	0.15054|0.15054	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.196610	.|0.06966	.|N	.|0.817182	T|T	0.01287|0.01287	0.0042|0.0042	M|M	0.71206|0.71206	2.165|2.165	0.42157|0.42157	P|P	0.008411999999999975|0.008411999999999975	.|D;B;D;B	.|0.63046	.|0.992;0.016;0.992;0.005	.|D;B;D;B	.|0.85130	.|0.997;0.103;0.997;0.049	T|T	0.46898|0.46898	-0.9158|-0.9158	4|9	.|0.54805	.|T	.|0.06	.|.	5.7525|5.7525	0.18154|0.18154	0.0:0.1715:0.3014:0.5271|0.0:0.1715:0.3014:0.5271	.|.	.|155;155;155;155	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	E|S	154|155;155;155;192	.|ENSP00000365402:R155S;ENSP00000372819:R155S	.|ENSP00000365402:R155S	A|R	-|-	2|1	0|0	HLA-C|HLA-C	31346985|31346985	0.000000|0.000000	0.05858|0.05858	0.994000|0.994000	0.49952|0.49952	0.090000|0.090000	0.18270|0.18270	-1.467000|-1.467000	0.02352|0.02352	0.025000|0.025000	0.15241|0.15241	-0.692000|-0.692000	0.03713|0.03713	GCG|CGC		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239006	G	T	31239006	3	4	59	1	0	0	0	0	1	0	0	0	7197	1087	38	5	661	5	HLA-C	6	31239006	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	2158918	31239006	139876061	34	5878											
RIMS1	22999	broad.mit.edu	37	chr6	73102466	73102466	+	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	gattttcttgatggattgggAccagcccagcttgttggccg	6	13	13	9	1	1	1	0	1	1	0	1	4	1	3	3	3	2	2	3	3	0	6			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:73102466A>G	ENST00000521978.1	+	31	4572	c.4572A>G	c.(4570-4572)ggA>ggG	p.G1524G	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000348717.5_Silent_p.G1307G|RIMS1_ENST00000414192.2_Silent_p.G51G|RIMS1_ENST00000425662.2_Silent_p.G592G|RIMS1_ENST00000538414.1_Silent_p.G330G|RIMS1_ENST00000264839.7_Silent_p.G1373G|RIMS1_ENST00000523963.1_Silent_p.G649G|RIMS1_ENST00000517960.1_Silent_p.G1307G|RIMS1_ENST00000518273.1_Silent_p.G1203G|RIMS1_ENST00000520567.1_Silent_p.G1174G|RIMS1_ENST00000401910.3_Silent_p.G844G|RIMS1_ENST00000522291.1_Silent_p.G1123G|RIMS1_ENST00000517827.1_Silent_p.G658G|RIMS1_ENST00000491071.2_Silent_p.G1347G	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1524					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)				ATGGATTGGGACCAGCCCAGC	0.403																																						.											0													97	92	93					6																	73102466		1844	4107	5951	SO:0001819	synonymous_variant	22999			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.4572A>G	6.37:g.73102466A>G			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.80|10.80	1.451830|1.451830	0.26074|0.26074	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.5|5.5	-0.0463|-0.0463	0.13847|0.13847	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	0.0879|0.0879	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21211|0.21211	-1.0252|-1.0252	4|4	.|.	.|.	.|.	-18.708|-18.708	4.8555|4.8555	0.13557|0.13557	0.6334:0.0:0.1322:0.2344|0.6334:0.0:0.1322:0.2344	.|.	.|.	.|.	.|.	G|A	442|870	.|.	.|.	D|T	+|+	2|1	0|0	RIMS1|RIMS1	73159187|73159187	0.996000|0.996000	0.38824|0.38824	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	0.671000|0.671000	0.25172|0.25172	-0.232000|-0.232000	0.09811|0.09811	0.482000|0.482000	0.46254|0.46254	GAC|ACC		0.403	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	73102466	A	G	73102466	2	3	59	1	0	0	0	0	0	0	0	1	13367	262	10	2		2	RIMS1	6	73102466	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	41863460	73102466	98012601	35	5879											
UNC93A	54346	mdanderson.org	37	chr6	167728900	167728900	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccacgctccaggacaggTcaaccaggcagaggatgaag	13	3	12	13	1	1	2	1	1	0	1	2	4	2	4	4	4	1	2	4	4	2	0			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:167728900T>C	ENST00000230256.3	+	8	1509	c.1334T>C	c.(1333-1335)gTc>gCc	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)		CCAGGACAGGTCAACCAGGCA	0.522																																						.											1	Substitution - Missense(1)	skin(1)											148	161	157					6																	167728900		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1334T>C	6.37:g.167728900T>C	ENSP00000230256:p.Val445Ala		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	1.940	-0.443865	0.04604	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.04502	3.61;3.65	3.86	-3.95	0.04118	Major facilitator superfamily domain, general substrate transporter (1);	2.657010	0.01742	N	0.029466	T	0.00412	0.0013	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	0.44513	-0.9323	10	0.09084	T	0.74	0.3159	0.201	0.00145	0.3648:0.155:0.2022:0.2779	.	403;445	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	A	445;403	ENSP00000230256:V445A;ENSP00000355794:V403A	ENSP00000230256:V445A	V	+	2	0	UNC93A	167648890	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.774000	0.04684	-0.778000	0.04566	-0.355000	0.07637	GTC		0.522	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		C	167728900	T	C	167728900	3	2	59	1	0	0	0	0	1	0	0	0	16993	1667	58	2	1364	2	UNC93A	6	167728900	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	94626434	167728900	3386167	36	5880											
AVL9	23080	broad.mit.edu	37	chr7	32620439	32620439	+	Frame_Shift_Del	DEL	A	A	-																															ttcagaatagtgaacgtggcAaaaaaattggaaacgtcatg																								rs201620276		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:32620439delA	ENST00000318709.4	+	15	1989	c.1768delA	c.(1768-1770)aaafs	p.K591fs	AVL9_ENST00000409301.1_Frame_Shift_Del_p.K573fs|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	591					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGAACGTGGCAAAAAAATTGG	0.373																																						.											0													89	84	85					7																	32620439		2203	4300	6503	SO:0001589	frameshift_variant	23080			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1768delA	7.37:g.32620439delA	ENSP00000315568:p.Lys591fs		Q92573	Frame_Shift_Del	DEL	ENST00000318709.4	37	CCDS34613.1																																																																																				0.373	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		-	32620439	A	-	32620439	7	5	59	1	0	1	0	1	0	0	0	0	1228	131	5	0	1826	0	AVL9	7	32620439	Frame_Shift_Del	DEL	A	TCGA-KO-8409-01A-11D-2310-10		32620439	126518224	37	5881											
SPDYE1	285955	broad.mit.edu	37	chr7	44046997	44046997	+	Frame_Shift_Del	DEL	A	A	-																															tccagttataccgttccatgAacccgagggccaggaagaac																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:44046997delA	ENST00000258704.3	+	5	900	c.763delA	c.(763-765)aacfs	p.N255fs	RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	255	Arg-rich.									endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						CCGTTCCATGAACCCGAGGGC	0.557																																						.											0													184	188	187					7																	44046997		2203	4300	6503	SO:0001589	frameshift_variant	285955			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"Speedy homologs"	16408	protein-coding gene	gene with protein product	"Speedy E"		"Williams Beuren syndrome chromosome region 19", "speedy homolog E1 (Xenopus laevis)"	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.763delA	7.37:g.44046997delA	ENSP00000258704:p.Asn255fs		Q9NTH5	Frame_Shift_Del	DEL	ENST00000258704.3	37	CCDS5475.1																																																																																				0.557	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		-	44046997	A	-	44046997	7	5	59	1	0	1	0	1	0	0	0	0	15028	246	9	0	781	0	SPDYE1	7	44046997	Frame_Shift_Del	DEL	A	TCGA-KO-8409-01A-11D-2310-10	11426558	44046997	115091666	38	5882											
TMEM120A	5447	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	75617798	75617798	+	IGR	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	atgaggatgatggtgaggtaGagcttgaacttctcatactc	11	12	12	6	0	1	5	1	4	1	1	3	6	1	6	0	3	3	2	0	3	3	4	rs114564646	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:75617798G>C	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						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)	TGGTGAGGTAGAGCTTGAACT	0.647																																						.											0													137	150	146					7																	75617798		2102	4205	6307	SO:0001628	intergenic_variant	83862			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		7.37:g.75617798G>C			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Silent	SNP	ENST00000461988.1	37	CCDS5579.1																																																																																				0.647	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		C	75617798	G	C	75617798	1	2	59	0	1	0	0	0	0	0	0	0	16030	929	33	5		5	TMEM120A	7	75617798	IGR	SNP	G	TCGA-KO-8409-01A-11D-2310-10	31570801	75617798	83520865	39	5883											
ADAM22	53616	mdanderson.org	37	chr7	87564497	87564497	+	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	gcggggcgacctcggtggccCgcaggtgagaggctcggtcc	4	5	19	13	5	0	1	0	1	0	1	3	3	1	1	3	7	0	2	3	7	0	0	rs2279542	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:87564497C>G	ENST00000265727.7	+	2	321	c.242C>G	c.(241-243)cCg>cGg	p.P81R	ADAM22_ENST00000398201.4_Missense_Mutation_p.P81R|ADAM22_ENST00000398204.4_Missense_Mutation_p.P81R|ADAM22_ENST00000315984.7_Missense_Mutation_p.P81R|ADAM22_ENST00000439864.1_Missense_Mutation_p.P81R|ADAM22_ENST00000398209.3_Missense_Mutation_p.P81R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	81			P -> R (in dbSNP:rs2279542). {ECO:0000269|PubMed:10524237, ECO:0000269|Ref.3}.		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)			CTCGGTGGCCCGCAGGTGAGA	0.701													G|||	3157	0.630391	0.9834	0.6282	5008	,	,		12450	0.5407		0.5229	False		,,,				2504	0.3579					.											0								G	ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO	3375,409		1523,329,40	10	12	11		242,242,242,242,242	-5.3	0	7	dbSNP_100	11	4227,3961		1120,1987,987	no	missense,missense,missense,missense,missense	ADAM22	NM_004194.3,NM_016351.4,NM_021721.3,NM_021722.4,NM_021723.3	103,103,103,103,103	2643,2316,1027	GG,GC,CC		48.3757,10.8087,36.5018	benign,benign,benign,benign,benign	81/860,81/871,81/824,81/900,81/907	87564497	7602,4370	1892	4094	5986	SO:0001583	missense	53616			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.242C>G	7.37:g.87564497C>G	ENSP00000265727:p.Pro81Arg		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	1379	0.6314102564102564	478	0.9715447154471545	215	0.5939226519337016	295	0.5157342657342657	391	0.5158311345646438	G	5.901	0.350386	0.11182	0.891913	0.516243	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.15834	4.56;3.76;2.39;4.56;4.56;4.56;4.56;4.56	4.66	-5.26	0.02772	Peptidase M12B, propeptide (1);	1.669830	0.03048	N	0.154188	T	0.00012	0.0000	L	0.41356	1.27	0.80722	P	0.0	B;B;B;B;B;B	0.09022	0.001;0.001;0.002;0.0;0.0;0.0	B;B;B;B;B;B	0.13407	0.007;0.003;0.006;0.001;0.003;0.009	T	0.32955	-0.9887	9	0.10111	T	0.7	.	1.0673	0.01614	0.2217:0.3099:0.2591:0.2094	rs2279542;rs10374693;rs17252615;rs61662105;rs2279542	133;81;81;81;81;81	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	R	81;81;81;81;81;81;81;48	ENSP00000381262:P81R;ENSP00000391334:P81R;ENSP00000413899:P81R;ENSP00000381260:P81R;ENSP00000265727:P81R;ENSP00000315900:P81R;ENSP00000381267:P81R;ENSP00000381261:P48R	ENSP00000265727:P81R	P	+	2	0	ADAM22	87402433	0.000000	0.05858	0.007000	0.13788	0.753000	0.42808	-1.004000	0.03678	-1.699000	0.01416	-0.738000	0.03535	CCG		0.701	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		G	87564497	C	G	87564497	3	3	59	1	0	0	0	0	1	0	0	0	244	652	23	5	248	5	ADAM22	7	87564497	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	11946699	87564497	71574166	40	5884											
SLC13A1	6561	bcgsc.ca	37	chr7	122759248	122759248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattagccatgctggtaatgAacccagaggagataatttat	14	12	9	6	0	0	3	0	1	0	2	0	4	0	3	2	2	3	2	2	2	6	6			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:122759248A>G	ENST00000194130.2	-	13	1438	c.1399T>C	c.(1399-1401)Tca>Cca	p.S467P	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	467					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GCTGGTAATGAACCCAGAGGA	0.343																																						.											0													89	92	91					7																	122759248		2203	4300	6503	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1399T>C	7.37:g.122759248A>G	ENSP00000194130:p.Ser467Pro		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670342	0.67814	.	.	ENSG00000081800	ENST00000194130	T	0.03441	3.93	5.53	5.53	0.82687	.	0.346143	0.30752	N	0.008959	T	0.21962	0.0529	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.01753	-1.1281	10	0.42905	T	0.14	-24.1496	14.821	0.70074	1.0:0.0:0.0:0.0	.	467;467	A4D0X1;Q9BZW2	.;S13A1_HUMAN	P	467	ENSP00000194130:S467P	ENSP00000194130:S467P	S	-	1	0	SLC13A1	122546484	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	3.066000	0.50002	2.094000	0.63399	0.482000	0.46254	TCA		0.343	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		G	122759248	A	G	122759248	3	3	59	1	0	0	0	0	1	0	0	0	14391	246	9	4	400	4	SLC13A1	7	122759248	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	35194751	122759248	36379415	41	5885											
TNFRSF10B	8795	mdanderson.org	37	chr8	22926313	22926313	+	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	caagggtcttggggacccggGgcccaggcctggctccccgc	4	5	16	16	2	1	0	0	0	1	0	2	1	2	1	5	7	0	1	5	7	1	1	rs1129424	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:22926313G>A	ENST00000276431.4	-	1	379	c.95C>T	c.(94-96)cCc>cTc	p.P32L	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P32L|TNFRSF10B_ENST00000542226.1_5'UTR|RP11-875O11.3_ENST00000520840.1_RNA|RP11-875O11.2_ENST00000501897.1_RNA	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	32			P -> L (in dbSNP:rs1129424). {ECO:0000269|PubMed:10072170, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:9242611, ECO:0000269|PubMed:9285725, ECO:0000269|PubMed:9325248, ECO:0000269|PubMed:9373179, ECO:0000269|PubMed:9430227, ECO:0000269|Ref.11}.		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)		GGGGACCCGGGGCCCAGGCCT	0.736													A|||	3753	0.749401	0.7753	0.7493	5008	,	,		13116	0.9107		0.5924	False		,,,				2504	0.7096				GBM(94;1064 1342 1839 21060 42553)	.											0								A	LEU/PRO,LEU/PRO	3291,1103		1260,771,166	13	16	15		95,95	0.1	0	8	dbSNP_86	15	5180,3384		1603,1974,705	yes	missense,missense	TNFRSF10B	NM_003842.4,NM_147187.2	98,98	2863,2745,871	AA,AG,GG		39.5142,25.1024,34.6273	benign,benign	32/441,32/412	22926313	8471,4487	2197	4282	6479	SO:0001583	missense	8795			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.95C>T	8.37:g.22926313G>A	ENSP00000276431:p.Pro32Leu		O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	CCDS6035.1	1624	0.7435897435897436	384	0.7804878048780488	269	0.7430939226519337	520	0.9090909090909091	451	0.5949868073878628	a	0.028	-1.358005	0.01245	0.748976	0.604858	ENSG00000120889	ENST00000276431;ENST00000347739	T;D	0.83163	-1.44;-1.69	1.32	0.126	0.14722	.	0.377447	0.15516	N	0.258310	T	0.00012	0.0000	N	0.00321	-1.65	0.51482	P	7.900000000005125E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30851	-0.9964	9	0.07482	T	0.82	.	4.2483	0.10682	0.4549:0.0:0.5451:0.0	rs1129424;rs1805039;rs3187295;rs17088926;rs17855358;rs57417067	32;32	O14763;O14763-2	TR10B_HUMAN;.	L	32	ENSP00000276431:P32L;ENSP00000317859:P32L	ENSP00000276431:P32L	P	-	2	0	TNFRSF10B	22982258	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.111000	0.10807	-0.291000	0.09012	-0.521000	0.04368	CCC		0.736	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		A	22926313	G	A	22926313	3	1	59	1	0	0	0	0	1	0	0	0	16278	1232	43	3	1263	3	TNFRSF10B	8	22926313	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10		22926313	123437709	42	5886											
SLC20A2	6575	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr8	42294728	42294728	+	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	gccaccgcgttacagtagctCgagtagctgtcgtagcgcag	8	8	13	12	5	0	0	0	0	0	0	2	1	0	0	2	0	4	7	2	0	4	4			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:42294728C>T	ENST00000342228.3	-	8	1671	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	SLC20A2_ENST00000520179.1_Silent_p.S434S|SLC20A2_ENST00000520262.1_Silent_p.S434S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	434					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)			TACAGTAGCTCGAGTAGCTGT	0.652																																						.											0													65	61	62					8																	42294728		2203	4300	6503	SO:0001819	synonymous_variant	6575				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.1302G>A	8.37:g.42294728C>T				Silent	SNP	ENST00000342228.3	37	CCDS6132.1																																																																																				0.652	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			T	42294728	C	T	42294728	2	4	59	1	0	0	0	0	0	0	0	1	14439	871	31	1		1	SLC20A2	8	42294728	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	19368415	42294728	104069294	43	5887											
ZC3H3	23144	bcgsc.ca	37	chr8	144522319	144522319	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgcagagcctgttggAgcacgctgctgctaaggcag	8	8	14	11	1	0	1	0	0	0	1	0	2	0	2	1	2	6	8	1	2	1	3			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:144522319A>G	ENST00000262577.5	-	11	2738	c.2707T>C	c.(2707-2709)Tcc>Ccc	p.S903P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	903					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)			AGCCTGTTGGAGCACGCTGCT	0.662																																						.											0													38	35	36					8																	144522319		2200	4299	6499	SO:0001583	missense	23144			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.2707T>C	8.37:g.144522319A>G	ENSP00000262577:p.Ser903Pro		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852730	0.32699	.	.	ENSG00000014164	ENST00000262577	T	0.03553	3.89	4.34	1.81	0.25067	.	0.853593	0.09930	N	0.737297	T	0.02767	0.0083	L	0.29908	0.895	0.09310	N	1	B	0.30584	0.286	B	0.24974	0.057	T	0.46898	-0.9158	10	0.87932	D	0	-2.9192	1.404	0.02276	0.5396:0.182:0.1024:0.1761	.	903	Q8IXZ2	ZC3H3_HUMAN	P	903	ENSP00000262577:S903P	ENSP00000262577:S903P	S	-	1	0	ZC3H3	144593462	0.977000	0.34250	0.029000	0.17559	0.277000	0.26821	0.933000	0.28897	0.087000	0.17167	0.383000	0.25322	TCC		0.662	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		G	144522319	A	G	144522319	3	3	59	1	0	0	0	0	1	0	0	0	17566	304	11	2	147	2	ZC3H3	8	144522319	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	102227591	144522319	1841703	44	5888											
DMRTA1	63951	broad.mit.edu	37	chr9	22451467	22451468	+	Frame_Shift_Ins	INS	-	-	A																															ctgcaaaggggatgtggtccINSaagccattgaacaggtttta																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:22451467_22451468insA	ENST00000325870.2	+	2	1297_1298	c.1072_1073insA	c.(1072-1074)caafs	p.Q358fs		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	358					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|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)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGATGTGGTCCAAGCCATTGAA	0.45																																						.											0																																										SO:0001589	frameshift_variant	63951			AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1074dupA	9.37:g.22451469_22451469dupA	ENSP00000319651:p.Gln358fs		A1L481|Q8N8Y9|Q9H4B9	Frame_Shift_Ins	INS	ENST00000325870.2	37	CCDS6514.1																																																																																				0.45	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			A	22451468	-	A	22451467	7	5	59	1	0	1	1	0	0	0	0	0	4588	595	21	0	1078	0	DMRTA1	9	22451467	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		22451467	118761964	45	5889											
KIF24	347240	broad.mit.edu	37	chr9	34257343	34257344	+	Frame_Shift_Ins	INS	-	-	GGGG																															ccctctccttctgatgtggcINSgggatgtttgtccaagcttc																								rs376517927		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:34257343_34257344insGGGG	ENST00000402558.2	-	10	2285_2286	c.2261_2262insCCCC	c.(2260-2262)ccgfs	p.P754fs	KIF24_ENST00000345050.2_Frame_Shift_Ins_p.P620fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.P620fs|KIF24_ENST00000379166.2_Frame_Shift_Ins_p.P754fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	754					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)			TCTGATGTGGCGGGATGTTTGT	0.54																																						.											0																																										SO:0001589	frameshift_variant	347240			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.2261_2262insCCCC	9.37:g.34257343_34257344insGGGG	ENSP00000384433:p.Pro754fs		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Ins	INS	ENST00000402558.2	37	CCDS6551.2																																																																																				0.54	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			GGGG	34257344	-	GGGG	34257343	7	5	59	1	0	1	1	0	0	0	0	0	8292	755	27	0	1856	0	KIF24	9	34257343	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	11805876	34257343	106956088	46	5890											
COL5A1	1289	broad.mit.edu	37	chr9	137645718	137645719	+	Frame_Shift_Ins	INS	-	-	G																															ccccctgggagcggaggtttINSgaagggcgagccgggagacg																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:137645718_137645719insG	ENST00000371817.3	+	15	2156_2157	c.1742_1743insG	c.(1741-1746)ttgaagfs	p.K582fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	582	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)		AGCGGAGGTTTGAAGGGCGAGC	0.658																																						.											0																																										SO:0001589	frameshift_variant	1289			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.1743dupG	9.37:g.137645719_137645719dupG	ENSP00000360882:p.Lys582fs		Q15094|Q5SUX4	Frame_Shift_Ins	INS	ENST00000371817.3	37	CCDS6982.1																																																																																				0.658	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		G	137645719	-	G	137645718	7	5	59	1	0	1	1	0	0	0	0	0	3696	1821	63	0	1800	0	COL5A1	9	137645718	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	103388375	137645718	3567713	47	5891											
DPP7	29952	hgsc.bcm.edu	37	chr9	140008471	140008471	+	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	accgaacggcagcgacttccCgtagtagcgctgggggaacg	9	5	15	12	6	0	0	0	0	0	0	1	3	1	1	2	3	4	4	2	3	4	3	rs138978681		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:140008471C>T	ENST00000371579.2	-	4	335	c.331G>A	c.(331-333)Ggg>Agg	p.G111R		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	111						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)		AGCGACTTCCCGTAGTAGCGC	0.771													C|||	1	0.000199681	0	0	5008	,	,		3826	0		0.001	False		,,,				2504	0					.											0								C	ARG/GLY	1,4293		0,1,2146	12	12	12		331	4.1	1	9	dbSNP_134	12	4,8458		0,4,4227	no	missense	DPP7	NM_013379.2	125	0,5,6373	TT,TC,CC		0.0473,0.0233,0.0392	probably-damaging	111/493	140008471	5,12751	2147	4231	6378	SO:0001583	missense	29952			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.331G>A	9.37:g.140008471C>T	ENSP00000360635:p.Gly111Arg		A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	CCDS7030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308878|4.308878	0.81247|0.81247	2.33E-4|2.33E-4	4.73E-4|4.73E-4	ENSG00000176978|ENSG00000176978	ENST00000371579|ENST00000443858	D|.	0.99732|.	-6.57|.	5.02|5.02	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84529|0.84529	0.5492|0.5492	H|H	0.96889|0.96889	3.9|3.9	0.44092|0.44092	D|D	0.996854|0.996854	D|D	0.76494|0.76494	0.999|0.999	D|P	0.70227|0.61132	0.968|0.884	D|D	0.88254|0.88254	0.2918|0.2918	10|8	0.87932|0.87932	D|D	0|0	-31.7857|-31.7857	10.5562|10.5562	0.45118|0.45118	0.0:0.8039:0.1961:0.0|0.0:0.8039:0.1961:0.0	.|.	111|134	Q9UHL4|E7EQS4	DPP2_HUMAN|.	R|Q	111|134	ENSP00000360635:G111R|.	ENSP00000360635:G111R|ENSP00000413492:R134Q	G|R	-|-	1|2	0|0	DPP7|DPP7	139128292|139128292	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.690000|0.690000	0.40134|0.40134	4.043000|4.043000	0.57354|0.57354	2.330000|2.330000	0.79161|0.79161	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.771	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		T	140008471	C	T	140008471	3	4	59	1	0	0	0	0	1	0	0	0	4731	652	23	1	1187	1	DPP7	9	140008471	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	2362753	140008471	1204960	48	5892											
GPR158	57512	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr10	25887315	25887315	+	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	cttggattagctgggaaaacCcaaacagcaggtgtggaaga	14	7	13	7	0	0	1	0	0	0	1	0	4	0	4	1	4	4	2	1	4	5	2	rs369998736		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr10:25887315C>G	ENST00000376351.3	+	11	3119	c.2760C>G	c.(2758-2760)acC>acG	p.T920T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	920					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						CTGGGAAAACCCAAACAGCAG	0.438																																						.											0								C		1,4405	2.1+/-5.4	0,1,2202	133	144	140		2760	1.6	1	10		140	0,8600		0,0,4300	no	coding-synonymous	GPR158	NM_020752.2		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		920/1216	25887315	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57512			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.2760C>G	10.37:g.25887315C>G			Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																				0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		G	25887315	C	G	25887315	2	3	59	1	0	0	0	0	0	0	0	1	6663	610	22	5		5	GPR158	10	25887315	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10		25887315	109647432	49	5893											
MUC6	4588	mdanderson.org	37	chr11	1016885	1016885	+	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	gagaagggactgctccctgtAggtggggagtgtgtggtgaa	8	9	19	5	0	0	2	0	1	0	1	1	5	1	4	1	5	1	2	1	5	3	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1016885A>C	ENST00000421673.2	-	31	5966	c.5916T>G	c.(5914-5916)ccT>ccG	p.P1972P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1972	Thr-rich.			P -> S (in Ref. 5; AAA35866). {ECO:0000305}.	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)		TGCTCCCTGTAGGTGGGGAGT	0.592																																						.											0													1108	1117	1114					11																	1016885		2203	4298	6501	SO:0001819	synonymous_variant	4588			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.5916T>G	11.37:g.1016885A>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016885	A	C	1016885	2	2	59	1	0	0	0	0	0	0	0	1	9980	407	15	5		5	MUC6	11	1016885	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10		1016885	133989631	50	5894											
MUC6	4588	mdanderson.org	37	chr11	1018341	1018341	+	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	ctgtggccttgagcgttgttGgtggaggaatggtacctgtt	5	14	16	6	1	0	1	0	1	0	0	0	3	0	3	2	5	2	4	2	5	2	5	rs79748612		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1018341G>A	ENST00000421673.2	-	31	4510	c.4460C>T	c.(4459-4461)cCa>cTa	p.P1487L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1487	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)		GAGCGTTGTTGGTGGAGGAAT	0.572																																						.											0													267	273	271					11																	1018341		2184	4268	6452	SO:0001583	missense	4588			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.4460C>T	11.37:g.1018341G>A	ENSP00000406861:p.Pro1487Leu		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.717	0.696448	0.15106	.	.	ENSG00000184956	ENST00000421673	T	0.20881	2.04	2.58	0.531	0.17108	.	.	.	.	.	T	0.18299	0.0439	L	0.47190	1.495	0.09310	N	1	B	0.19935	0.04	B	0.12156	0.007	T	0.20806	-1.0264	9	0.46703	T	0.11	.	9.5369	0.39229	0.0:0.0:0.7093:0.2907	.	1487	Q6W4X9	MUC6_HUMAN	L	1487	ENSP00000406861:P1487L	ENSP00000406861:P1487L	P	-	2	0	MUC6	1008341	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.540000	0.23191	-0.007000	0.14345	-1.159000	0.01794	CCA		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1018341	G	A	1018341	3	1	59	1	0	0	0	0	1	0	0	0	9980	1348	47	4	2871	4	MUC6	11	1018341	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	1456	1018341	133988175	51	5895											
MUC5B	727897	broad.mit.edu	37	chr11	1260210	1260211	+	Frame_Shift_Ins	INS	-	-	C																															gctgcctacgcccaggcctgINSccacgacgcgggcctgtgtg																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1260210_1260211insC	ENST00000529681.1	+	26	3465_3466	c.3407_3408insC	c.(3406-3411)tgccacfs	p.H1137fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.H1140fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1137	Cys-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)		GCCCAGGCCTGCCACGACGCGG	0.678																																						.											0																																										SO:0001589	frameshift_variant	727897			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.3409dupC	11.37:g.1260212_1260212dupC	ENSP00000436812:p.His1137fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.678	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1260211	-	C	1260210	7	5	59	1	0	1	1	0	0	0	0	0	9979	1319	46	0	3518	0	MUC5B	11	1260210	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	241869	1260210	133746306	52	5896											
UEVLD	55293	mdanderson.org	37	chr11	18579859	18579859	+	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	ttctgagaggtctaagaggaCaagcctgtctgcaataccct	11	10	10	10	0	3	2	0	1	3	2	3	4	3	3	2	2	3	1	2	2	4	3	rs199752573		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:18579859C>A	ENST00000541984.1	-	5	393	c.331G>T	c.(331-333)Gtc>Ttc	p.V111F	UEVLD_ENST00000320750.6_Missense_Mutation_p.V189F|UEVLD_ENST00000543987.1_Missense_Mutation_p.V211F|UEVLD_ENST00000396197.3_Missense_Mutation_p.V211F|UEVLD_ENST00000535484.1_Missense_Mutation_p.V173F|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.V189F	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCTAAGAGGACAAGCCTGTCT	0.423																																						.											0													103	84	90					11																	18579859		2199	4293	6492	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.331G>T	11.37:g.18579859C>A	ENSP00000437538:p.Val111Phe			Missense_Mutation	SNP	ENST00000541984.1	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827481	0.50845	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000541984	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.53	3.63	0.41609	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.194259	0.44285	D	0.000473	D	0.94238	0.8150	M	0.91196	3.185	0.80722	D	1	D;P;D;D	0.58268	0.982;0.813;0.962;0.982	D;P;P;D	0.64144	0.922;0.566;0.785;0.922	D	0.93517	0.6858	10	0.87932	D	0	-7.0358	9.1174	0.36766	0.0:0.7685:0.1523:0.0792	.	189;189;211;211	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	F	211;173;211;189;189;111	ENSP00000442974:V211F;ENSP00000441092:V173F;ENSP00000379500:V211F;ENSP00000323353:V189F;ENSP00000368697:V189F;ENSP00000437538:V111F	ENSP00000323353:V189F	V	-	1	0	UEVLD	18536435	0.994000	0.37717	0.988000	0.46212	0.248000	0.25809	2.161000	0.42358	0.662000	0.31006	0.591000	0.81541	GTC		0.423	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		A	18579859	C	A	18579859	3	1	59	1	0	0	0	0	1	0	0	0	16930	478	17	5	808	5	UEVLD	11	18579859	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	17319649	18579859	116426657	53	5897											
ANO5	203859	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr11	22291963	22291963	+	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	gaaagttttggaccccttggGcttttctatgagtacttaga	9	15	10	7	0	1	2	0	1	1	1	1	4	1	3	2	2	1	3	2	2	4	8			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:22291963G>A	ENST00000324559.8	+	18	2321	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	668					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						GACCCCTTGGGCTTTTCTATG	0.418																																						.											0													163	167	166					11																	22291963		2203	4300	6503	SO:0001819	synonymous_variant	203859			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.2004G>A	11.37:g.22291963G>A				Silent	SNP	ENST00000324559.8	37	CCDS31444.1																																																																																				0.418	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		A	22291963	G	A	22291963	2	1	59	1	0	0	0	0	0	0	0	1	700	1190	42	3		3	ANO5	11	22291963	Silent	SNP	G	TCGA-KO-8409-01A-11D-2310-10	3712104	22291963	112714553	54	5898											
ANO3	63982	broad.mit.edu;mdanderson.org	37	chr11	26465370	26465370	+	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	tgttcatttgctgacctcagCgatttttgtttgggtaagtt	6	19	10	6	1	2	1	2	1	0	0	2	2	2	1	1	1	2	5	1	1	1	7	rs373465060		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:26465370C>T	ENST00000256737.3	+	3	1152	c.300C>T	c.(298-300)agC>agT	p.S100S	ANO3_ENST00000525139.1_Silent_p.S84S|ANO3_ENST00000537978.1_Silent_p.S84S|ANO3_ENST00000531646.1_Silent_p.S100S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	100					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						CTGACCTCAGCGATTTTTGTT	0.328																																						.											0													117	115	115					11																	26465370		2203	4300	6503	SO:0001819	synonymous_variant	63982			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.300C>T	11.37:g.26465370C>T			B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																				0.328	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		T	26465370	C	T	26465370	2	4	59	1	0	0	0	0	0	0	0	1	698	767	27	1		1	ANO3	11	26465370	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	4173407	26465370	108541146	55	5899											
KIF18A	81930	mdanderson.org	37	chr11	28119446	28119446	+	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	agtgttttccggacgtacacGaactactactttcatatggt	10	14	8	9	3	1	0	1	0	0	0	2	2	2	1	1	2	4	2	1	2	5	7			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:28119446G>A	ENST00000263181.6	-	2	339	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.R17C(3)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GGACGTACACGAACTACTACT	0.363																																						.											3	Substitution - Missense(3)	large_intestine(3)											166	158	161					11																	28119446		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.49C>T	11.37:g.28119446G>A	ENSP00000263181:p.Arg17Cys		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537380	0.85917	.	.	ENSG00000121621	ENST00000263181	D	0.86694	-2.16	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98173	1.0453	10	0.87932	D	0	.	19.823	0.96605	0.0:0.0:1.0:0.0	.	17;17	B2R6H3;Q8NI77	.;KI18A_HUMAN	C	17	ENSP00000263181:R17C	ENSP00000263181:R17C	R	-	1	0	KIF18A	28076022	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.205000	0.77881	2.770000	0.95276	0.650000	0.86243	CGT		0.363	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		A	28119446	G	A	28119446	3	1	59	1	0	0	0	0	1	0	0	0	8280	1058	37	1	2711	1	KIF18A	11	28119446	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	1654076	28119446	106887070	56	5900											
C11orf83	790955	bcgsc.ca	37	chr11	62439458	62439458	+	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	aggacccaaggagcagggagGaggcggccaggacccagcag	12	0	18	11	1	0	0	0	0	0	0	0	5	0	5	3	7	2	2	3	7	1	0			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:62439458G>A	ENST00000531323.1	+	3	697	c.154G>A	c.(154-156)Gag>Aag	p.E52K	C11orf83_ENST00000377953.3_Missense_Mutation_p.E52K|C11orf48_ENST00000354588.3_5'Flank|C11orf48_ENST00000431002.2_5'Flank|C11orf48_ENST00000532208.1_5'Flank			Q6UW78	CK083_HUMAN		52						extracellular region (GO:0005576)				cervix(1)|lung(1)|prostate(1)	3						GAGCAGGGAGGAGGCGGCCAG	0.667																																						.											0													24	32	29					11																	62439458		2188	4290	6478	SO:0001583	missense	790955																														ENST00000531323.1:c.154G>A	11.37:g.62439458G>A	ENSP00000432692:p.Glu52Lys		Q5FVD5	Missense_Mutation	SNP	ENST00000531323.1	37	CCDS41658.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814661	0.50527	.	.	ENSG00000204922	ENST00000531323;ENST00000377953	.	.	.	5.08	3.17	0.36434	.	0.157554	0.38217	N	0.001763	T	0.40297	0.1111	.	.	.	0.09310	N	1	P	0.40180	0.705	B	0.41510	0.359	T	0.33343	-0.9872	8	0.87932	D	0	-13.4217	11.9872	0.53155	0.0:0.3702:0.6298:0.0	.	52	Q6UW78	CK083_HUMAN	K	52	.	ENSP00000367189:E52K	E	+	1	0	C11orf83	62196034	0.919000	0.31177	0.041000	0.18516	0.002000	0.02628	2.059000	0.41384	0.800000	0.34041	-0.211000	0.12701	GAG		0.667	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394992.2			A	62439458	G	A	62439458	3	1	59	1	0	0	0	0	1	0	0	0	1666	1175	41	3	160	3	C11orf83	11	62439458	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	34320012	62439458	72567058	57	5901											
ORAOV1	220064	broad.mit.edu	37	chr11	69482297	69482297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatcctcctcaaaatgaaAgtccggaaccttctgcacta	12	10	5	14	1	2	1	1	1	1	0	6	2	6	2	5	1	2	1	5	1	5	2			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:69482297A>G	ENST00000535657.1	-	5	485	c.404T>C	c.(403-405)cTt>cCt	p.L135P	ORAOV1_ENST00000279147.4_Missense_Mutation_p.L135P|ORAOV1_ENST00000536870.1_Missense_Mutation_p.L76P|ORAOV1_ENST00000539414.1_3'UTR			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	135										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TCAAAATGAAAGTCCGGAACC	0.428																																						.											0													101	101	101					11																	69482297		2200	4294	6494	SO:0001583	missense	220064				CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"oral cancer overexpressed protein 1-A"	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.404T>C	11.37:g.69482297A>G	ENSP00000446129:p.Leu135Pro		B2R4R2|Q8NFK0	Missense_Mutation	SNP	ENST00000535657.1	37	CCDS8192.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085253	0.76642	.	.	ENSG00000149716	ENST00000279147;ENST00000536870;ENST00000535657	T;T;T	0.58652	0.42;0.32;0.42	4.89	4.89	0.63831	.	0.219542	0.30920	N	0.008611	T	0.72882	0.3516	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.87578	0.998;0.503	T	0.75431	-0.3320	10	0.59425	D	0.04	.	13.0807	0.59112	1.0:0.0:0.0:0.0	.	76;135	F5GWS9;Q8WV07	.;ORAV1_HUMAN	P	135;76;135	ENSP00000279147:L135P;ENSP00000441984:L76P;ENSP00000446129:L135P	ENSP00000279147:L135P	L	-	2	0	ORAOV1	69191478	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.773000	0.68898	1.824000	0.53156	0.443000	0.29094	CTT		0.428	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451		G	69482297	A	G	69482297	3	3	59	1	0	0	0	0	1	0	0	0	11260	72	3	2	13	2	ORAOV1	11	69482297	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	7042839	69482297	65524219	58	5902											
TRPC6	7225	mdanderson.org	37	chr11	101454192	101454192	+	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	ggctccggcagcgccccgggGagaactgcccctccggggcc	4	3	16	18	4	0	1	0	0	0	1	2	2	2	1	7	6	3	2	7	6	1	0	rs3802829	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:101454192G>A	ENST00000344327.3	-	1	467	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	RP11-748H22.1_ENST00000527374.1_RNA|TRPC6_ENST00000348423.4_Missense_Mutation_p.P15S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P15S|TRPC6_ENST00000526713.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.P15S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	15					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)		GCGCCCCGGGGAGAACTGCCC	0.741													G|||	339	0.0676917	0.0038	0.0605	5008	,	,		10026	0.13		0.1064	False		,,,				2504	0.0552				Colon(166;1315 1927 11094 12848 34731)	.											0								G	SER/PRO	76,3982		3,70,1956	5	7	6		43	4.6	0.7	11	dbSNP_107	6	680,7230		20,640,3295	no	missense	TRPC6	NM_004621.5	74	23,710,5251	AA,AG,GG		8.5967,1.8728,6.3168	benign	15/932	101454192	756,11212	2029	3955	5984	SO:0001583	missense	7225			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.43C>T	11.37:g.101454192G>A	ENSP00000340913:p.Pro15Ser		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	178	0.0815018315018315	0	0.0	26	0.0718232044198895	73	0.12762237762237763	79	0.10422163588390501	G	10.08	1.252041	0.22880	0.018728	0.085967	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79141	-1.04;-1.13;-1.0;-1.24	4.61	4.61	0.57282	.	1.645960	0.03897	N	0.279764	T	0.01387	0.0045	N	0.08118	0	0.48236	P	3.809999999999647E-4	B;B;B	0.26512	0.151;0.151;0.093	B;B;B	0.32864	0.154;0.154;0.074	T	0.10291	-1.0636	9	0.20046	T	0.44	-1.4425	12.9414	0.58348	0.0:0.0:1.0:0.0	rs3802829	15;15;15	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	15	ENSP00000340913:P15S;ENSP00000435574:P15S;ENSP00000343672:P15S;ENSP00000353687:P15S	ENSP00000340913:P15S	P	-	1	0	TRPC6	100959402	0.971000	0.33674	0.702000	0.30337	0.033000	0.12548	2.484000	0.45242	2.100000	0.63781	0.561000	0.74099	CCC		0.741	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		A	101454192	G	A	101454192	3	1	59	1	0	0	0	0	1	0	0	0	16580	1174	41	3	2804	3	TRPC6	11	101454192	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	31971895	101454192	33552324	59	5903											
TAS2R50	259296	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr12	11139408	11139408	+	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	attggcaaagtttccgagaaCaaataaaaccattattagaa	19	10	6	6	1	0	2	0	0	0	2	1	3	1	2	2	1	2	2	2	1	8	5			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:11139408C>A	ENST00000506868.1	-	1	103	c.52G>T	c.(52-54)Gtt>Ttt	p.V18F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	18					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TTTCCGAGAACAAATAAAACC	0.338																																						.											0													41	48	45					12																	11139408		2199	4297	6496	SO:0001583	missense	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.52G>T	12.37:g.11139408C>A	ENSP00000424040:p.Val18Phe		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526332	0.27299	.	.	ENSG00000212126	ENST00000506868	T	0.39997	1.05	2.19	-1.66	0.08265	.	0.399174	0.17157	N	0.184841	T	0.30386	0.0763	L	0.45137	1.4	0.09310	N	1	B	0.33044	0.395	B	0.37943	0.261	T	0.21245	-1.0251	10	0.52906	T	0.07	.	3.705	0.08397	0.0:0.2865:0.4131:0.3004	.	18	P59544	T2R50_HUMAN	F	18	ENSP00000424040:V18F	ENSP00000424040:V18F	V	-	1	0	TAS2R50	11030675	0.000000	0.05858	0.002000	0.10522	0.166000	0.22503	-5.366000	0.00128	-0.130000	0.11599	0.313000	0.20887	GTT		0.338	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		A	11139408	C	A	11139408	3	1	59	1	0	0	0	0	1	0	0	0	15581	478	17	5	851	5	TAS2R50	12	11139408	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10		11139408	122712487	60	5904											
MYF6	4618	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	81102660	81102660	+	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	gtcagcctcgagtagccttcGatgcctttcttccatcgtgg	5	13	10	13	3	2	0	1	0	1	0	6	2	3	0	4	1	3	1	4	1	1	4			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:81102660G>A	ENST00000228641.3	+	3	872	c.650G>A	c.(649-651)cGa>cAa	p.R217Q		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	217					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTAGCCTTCGATGCCTTTCT	0.522																																						.											0													171	148	156					12																	81102660		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.650G>A	12.37:g.81102660G>A	ENSP00000228641:p.Arg217Gln		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048748	0.36181	.	.	ENSG00000111046	ENST00000228641	D	0.95980	-3.87	5.6	4.7	0.59300	.	0.191189	0.46442	N	0.000289	D	0.91713	0.7380	L	0.43152	1.355	0.37091	D	0.899427	B	0.21147	0.052	B	0.08055	0.003	D	0.89343	0.3655	10	0.27785	T	0.31	-17.1862	11.6151	0.51086	0.0847:0.0:0.9153:0.0	.	217	P23409	MYF6_HUMAN	Q	217	ENSP00000228641:R217Q	ENSP00000228641:R217Q	R	+	2	0	MYF6	79626791	0.941000	0.31946	0.978000	0.43139	0.985000	0.73830	1.817000	0.39002	1.338000	0.45544	0.591000	0.81541	CGA		0.522	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		A	81102660	G	A	81102660	3	1	59	1	0	0	0	0	1	0	0	0	10028	1058	37	1	660	1	MYF6	12	81102660	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	69963252	81102660	52749235	61	5905											
C12orf51	283450	broad.mit.edu	37	chr12	112688161	112688162	+	Frame_Shift_Ins	INS	-	-	C																															aggggagatcacgccattggINScctccacctgccactggcac																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:112688161_112688162insC	ENST00000430131.2	-	24	3615_3616	c.2470_2471insG	c.(2470-2472)gccfs	p.A824fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.A1074fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.A1100fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	824					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)										CACGCCATTGGCCTCCACCTGC	0.525																																						.											0																																										SO:0001589	frameshift_variant	283450			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.2471dupG	12.37:g.112688163_112688163dupC	ENSP00000404379:p.Ala824fs		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37																																																																																					0.525	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112688162	-	C	112688161	7	5	59	1	0	1	1	0	0	0	0	0	1696	1203	42	0	9727	0	C12orf51	12	112688161	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	31585501	112688161	21163734	62	5906											
PSPC1	55269	mdanderson.org	37	chr13	20279923	20279923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttcatattcatacccAtcattggaggaggaccttgg	9	14	10	8	0	3	0	3	0	0	0	3	3	3	3	2	4	1	2	2	4	2	7			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr13:20279923A>G	ENST00000338910.4	-	8	1424	c.1265T>C	c.(1264-1266)aTg>aCg	p.M422T		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	422	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATTCATACCCATCATTGGAGG	0.468																																						.											0													145	149	148					13																	20279923		1886	4123	6009	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1265T>C	13.37:g.20279923A>G	ENSP00000343966:p.Met422Thr		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865591	0.32977	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14640	2.49	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.46157	1.445	0.58432	D	0.999996	P	0.40431	0.717	P	0.49047	0.599	T	0.02109	-1.1212	10	0.22706	T	0.39	-8.3789	15.2195	0.73299	1.0:0.0:0.0:0.0	.	422	Q8WXF1	PSPC1_HUMAN	T	422;362	ENSP00000343966:M422T	ENSP00000343966:M422T	M	-	2	0	PSPC1	19177923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.224000	0.89781	2.001000	0.58596	0.402000	0.26972	ATG		0.468	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			G	20279923	A	G	20279923	3	3	59	1	0	0	0	0	1	0	0	0	12716	217	8	4	314	4	PSPC1	13	20279923	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10		20279923	94889955	63	5907											
POTEG	404785	broad.mit.edu	37	chr14	19553498	19553499	+	Frame_Shift_Ins	INS	-	-	G																															aagcaagatgggcaagtggtINSgccgccactgcttcccctgg																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:19553498_19553499insG	ENST00000409832.3	+	1	134_135	c.82_83insG	c.(82-84)tgcfs	p.C28fs		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	28										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCAAGTGGTGCCGCCACTGC	0.574																																						.											0																																										SO:0001589	frameshift_variant	404785				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.83dupG	14.37:g.19553499_19553499dupG	ENSP00000386971:p.Cys28fs		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Frame_Shift_Ins	INS	ENST00000409832.3	37	CCDS32018.1																																																																																				0.574	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		G	19553499	-	G	19553498	7	5	59	1	0	1	1	0	0	0	0	0	12266	1696	59	0	84	0	POTEG	14	19553498	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		19553498	87796042	64	5908											
LRFN5	145581	broad.mit.edu	37	chr14	42356435	42356435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgactcggttagatgtgAcatcaaataaattgcagaag	16	10	10	5	1	1	5	1	2	0	3	2	5	1	5	0	1	1	2	0	1	5	3			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:42356435A>G	ENST00000298119.4	+	3	1796	c.607A>G	c.(607-609)Aca>Gca	p.T203A	LRFN5_ENST00000554120.1_Missense_Mutation_p.T203A|LRFN5_ENST00000554171.1_Missense_Mutation_p.T203A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	203						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTTAGATGTGACATCAAATAA	0.428										HNSCC(30;0.082)																												.											0													71	65	67					14																	42356435		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.607A>G	14.37:g.42356435A>G	ENSP00000298119:p.Thr203Ala		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305424	0.60305	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51071	0.72;0.72;0.72	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.43500	0.1250	N	0.02334	-0.595	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.58752	-0.7581	10	0.45353	T	0.12	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	203;203	G3V364;Q96NI6	.;LRFN5_HUMAN	A	203	ENSP00000298119:T203A;ENSP00000451897:T203A;ENSP00000451067:T203A	ENSP00000298119:T203A	T	+	1	0	LRFN5	41426185	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.324000	0.96373	2.098000	0.63641	0.528000	0.53228	ACA		0.428	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		G	42356435	A	G	42356435	3	3	59	1	0	0	0	0	1	0	0	0	8941	275	10	2	609	2	LRFN5	14	42356435	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	22802937	42356435	64993105	65	5909											
YLPM1	56252	broad.mit.edu	37	chr14	75248591	75248592	+	Frame_Shift_Ins	INS	-	-	C																															ctctctcttcaacagcacctINSccacctgtcatgcccctccc																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:75248591_75248592insC	ENST00000552421.1	+	4	1969_1970	c.1845_1846insC	c.(1846-1848)ccafs	p.P616fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.P616fs|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					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)		CAACAGCACCTCCACCTGTCAT	0.579																																						.											0																																										SO:0001589	frameshift_variant	56252			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.1847dupC	14.37:g.75248593_75248593dupC	ENSP00000447921:p.Pro616fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37																																																																																					0.579	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		C	75248592	-	C	75248591	7	5	59	1	0	1	1	0	0	0	0	0	17483	1538	54	0	1859	0	YLPM1	14	75248591	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	32892156	75248591	32100949	66	5910											
KIAA1737	85457	hgsc.bcm.edu	37	chr14	77580242	77580243	+	Frame_Shift_Ins	INS	-	-	C																															tcccagtctgaccttcgcttINScccccgccagtcctgtctgc																								rs74069038		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:77580242_77580243insC	ENST00000361786.2	+	4	1098_1099	c.781_782insC	c.(781-783)tccfs	p.S261fs	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		261					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GACCTTCGCTTCCCCCGCCAGT	0.564																																						.											0																																										SO:0001589	frameshift_variant	85457																														ENST00000361786.2:c.786dupC	14.37:g.77580247_77580247dupC	ENSP00000355319:p.Ser261fs		B2RCI1|Q8N389|Q8NDZ1	Frame_Shift_Ins	INS	ENST00000361786.2	37	CCDS9855.1																																																																																				0.564	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			C	77580243	-	C	77580242	7	5	59	1	0	1	1	0	0	0	0	0	8255	1783	62	0	791	0	KIAA1737	14	77580242	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	2331651	77580242	29769298	67	5911											
PPP1R13B	23368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	104205041	104205041	+	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	atcactatcagcagcattcaCgttgacaccaaaatccagca	15	8	5	13	1	3	1	3	1	0	0	4	1	4	1	2	0	3	4	2	0	3	3			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:104205041C>T	ENST00000202556.9	-	14	3121	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.V366M|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	947					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)				GCAGCATTCACGTTGACACCA	0.542																																						.											0													142	150	147					14																	104205041		2149	4265	6414	SO:0001583	missense	23368			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.2839G>A	14.37:g.104205041C>T	ENSP00000202556:p.Val947Met		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169936	0.94768	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.69685	-0.35;-0.42	5.25	5.25	0.73442	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82118	-0.0615	10	0.87932	D	0	.	19.0309	0.92957	0.0:1.0:0.0:0.0	.	947	Q96KQ4	ASPP1_HUMAN	M	947;366	ENSP00000202556:V947M;ENSP00000395213:V366M	ENSP00000202556:V947M	V	-	1	0	PPP1R13B	103274794	1.000000	0.71417	0.980000	0.43619	0.905000	0.53344	7.528000	0.81941	2.744000	0.94065	0.561000	0.74099	GTG		0.542	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		T	104205041	C	T	104205041	3	4	59	1	0	0	0	0	1	0	0	0	12357	536	19	1	449	1	PPP1R13B	14	104205041	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	26624799	104205041	3144499	68	5912											
PLA2G4D	283748	broad.mit.edu	37	chr15	42362217	42362218	+	Frame_Shift_Ins	INS	-	-	G																															gcattcccttggctggtgctINSggtcctgagggctgggttcc																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:42362217_42362218insG	ENST00000290472.3	-	19	2213_2214	c.2119_2120insC	c.(2119-2121)cagfs	p.Q707fs		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	707	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)		TGGCTGGTGCTGGTCCTGAGGG	0.688																																						.											0																																										SO:0001589	frameshift_variant	283748			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.2120dupC	15.37:g.42362219_42362219dupG	ENSP00000290472:p.Gln707fs		Q8N176	Frame_Shift_Ins	INS	ENST00000290472.3	37	CCDS32203.1																																																																																				0.688	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		G	42362218	-	G	42362217	7	5	59	1	0	1	1	0	0	0	0	0	12004	1580	55	0	344	0	PLA2G4D	15	42362217	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		42362217	60169175	69	5913											
C15orf48	84419	broad.mit.edu	37	chr15	45723237	45723238	+	Frame_Shift_Ins	INS	-	-	G																															tcatgactgtggcggcgggtINSggagcctcatctttcgctgt																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:45723237_45723238insG	ENST00000344300.3	+	2	265_266	c.75_76insG	c.(76-78)ggafs	p.G26fs	C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.G26fs|RP11-519G16.5_ENST00000559553.1_RNA|MIR147B_ENST00000390185.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	26						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TGGCGGCGGGTGGAGCCTCATC	0.416																																						.											0																																										SO:0001589	frameshift_variant	84419				CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"normal mucosa of esophagus specific 1"	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.77dupG	15.37:g.45723239_45723239dupG	ENSP00000341610:p.Gly26fs			Frame_Shift_Ins	INS	ENST00000344300.3	37	CCDS10124.1																																																																																				0.416	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		G	45723238	-	G	45723237	7	5	59	1	0	1	1	0	0	0	0	0	1799	1683	59	0	81	0	C15orf48	15	45723237	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	3361020	45723237	56808155	70	5914											
FAM154B	283726	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr15	82564044	82564044	+	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	atcttggtactacctacaaaCgggatttgaattcgtataaa	14	13	7	7	2	1	1	0	1	1	0	2	2	1	2	1	2	4	2	1	2	8	8	rs150372195		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:82564044C>T	ENST00000339465.5	+	2	223	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	FAM154B_ENST00000565432.1_Missense_Mutation_p.R65W|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.R37W	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	52										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TACCTACAAACGGGATTTGAA	0.408																																						.											0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92	83	86		154	4	1	15	dbSNP_134	86	0,8600		0,0,4300	no	missense	FAM154B	NM_001008226.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	52/399	82564044	1,13005	2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.154C>T	15.37:g.82564044C>T	ENSP00000340445:p.Arg52Trp		B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192179	0.58017	2.27E-4	0.0	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18810	2.19;2.19	4.98	3.99	0.46301	.	0.434099	0.19405	N	0.115064	T	0.35856	0.0946	M	0.65975	2.015	0.21933	N	0.999469	D;D	0.67145	0.996;0.996	P;P	0.56648	0.802;0.803	T	0.10042	-1.0647	10	0.66056	D	0.02	-1.3395	11.0297	0.47765	0.3549:0.6451:0.0:0.0	.	37;52	B4E2M2;Q658L1	.;F154B_HUMAN	W	52;37	ENSP00000340445:R52W;ENSP00000403743:R37W	ENSP00000340445:R52W	R	+	1	2	FAM154B	80351099	0.586000	0.26782	0.982000	0.44146	0.533000	0.34776	3.035000	0.49759	2.481000	0.83766	0.591000	0.81541	CGG		0.408	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		T	82564044	C	T	82564044	3	4	59	1	0	0	0	0	1	0	0	0	5464	527	19	1	160	1	FAM154B	15	82564044	Missense_Mutation	SNP	C	TCGA-KO-8409-01A-11D-2310-10	36840807	82564044	19967348	71	5915											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140487	3140488	+	Frame_Shift_Ins	INS	-	-	C																															gggacccatcttcaccagggINSccgctagccgcagcgccccg																								rs140902087		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:3140487_3140488insC	ENST00000252463.2	-	5	869_870	c.782_783insG	c.(781-783)ggcfs	p.G261fs	ZSCAN10_ENST00000538082.2_Frame_Shift_Ins_p.G179fs|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	261					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						CTTCACCAGGGCCGCTAGCCGC	0.639																																						.											0																																										SO:0001589	frameshift_variant	84891			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.783dupG	16.37:g.3140489_3140489dupC	ENSP00000252463:p.Gly261fs		B3KQD3|H0YFS6|Q1WWM2	Frame_Shift_Ins	INS	ENST00000252463.2	37	CCDS10493.1																																																																																				0.639	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		C	3140488	-	C	3140487	7	5	59	1	0	1	1	0	0	0	0	0	18224	1190	42	0	1398	0	ZSCAN10	16	3140487	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		3140487	87214266	72	5916											
EARS2	124454	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	23546345	23546345	+	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	tccctgttgaggagcaggggCaggtgggcgaagtggggtgg	6	7	22	6	1	0	1	0	1	0	0	1	3	1	2	1	8	1	3	1	8	1	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:23546345C>A	ENST00000563459.1	-	4	828	c.822G>T	c.(820-822)ctG>ctT	p.L274L	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000449606.1_Silent_p.L274L|EARS2_ENST00000564501.1_Silent_p.L274L|EARS2_ENST00000563232.1_Silent_p.L274L			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	274					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)		GGAGCAGGGGCAGGTGGGCGA	0.627																																						.											0													31	35	34					16																	23546345		2092	4227	6319	SO:0001819	synonymous_variant	124454			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.822G>T	16.37:g.23546345C>A			B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	CCDS42132.1																																																																																				0.627	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		A	23546345	C	A	23546345	2	1	59	1	0	0	0	0	0	0	0	1	4878	697	25	5		5	EARS2	16	23546345	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10	20405858	23546345	66808408	73	5917											
BCAR1	9564	mdanderson.org	37	chr16	75269477	75269477	+	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	gccacctccaaggaggacgcAgactggctgctgcgtgtgct	7	7	14	13	2	0	1	0	0	0	1	1	3	1	3	3	3	3	4	3	3	1	0	rs61729595	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:75269477A>C	ENST00000162330.5	-	5	1446	c.1320T>G	c.(1318-1320)tcT>tcG	p.S440S	BCAR1_ENST00000420641.3_Silent_p.S458S|BCAR1_ENST00000393422.2_Silent_p.S458S|BCAR1_ENST00000546196.1_Silent_p.S411S|BCAR1_ENST00000538440.2_Silent_p.S440S|BCAR1_ENST00000542031.2_Silent_p.S438S|BCAR1_ENST00000393420.6_Silent_p.S458S|BCAR1_ENST00000535626.2_Silent_p.S292S|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Silent_p.S486S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	440	Ser-rich.				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)	p.S458S(1)|p.S440S(1)		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)		AGGAGGACGCAGACTGGCTGC	0.701													A|||	169	0.033746	0.003	0.0375	5008	,	,		15021	0.001		0.0855	False		,,,				2504	0.0532					.											2	Substitution - coding silent(2)	prostate(2)						A	,,,,,,,,	69,4303		0,69,2117	10	15	13		1458,1374,1374,1374,1320,1314,876,690,1320	-7.5	0	16	dbSNP_129	13	590,7978		14,562,3708	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	14,631,5825	CC,CA,AA		6.8861,1.5782,5.0927	,,,,,,,,	486/917,458/889,458/889,458/889,440/871,438/869,292/723,230/661,440/871	75269477	659,12281	2186	4284	6470	SO:0001819	synonymous_variant	9564			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.1320T>G	16.37:g.75269477A>C			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	CCDS10915.1																																																																																				0.701	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		C	75269477	A	C	75269477	2	2	59	1	0	0	0	0	0	0	0	1	1348	175	7	5		5	BCAR1	16	75269477	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	51723132	75269477	15085276	74	5918											
BANP	54971	mdanderson.org	37	chr16	88105725	88105725	+	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	gcctcctcggaccccgcggcGgcgggcgtggatgggtcgcc	2	5	18	16	7	0	0	0	0	0	0	3	2	1	2	5	6	0	0	5	6	0	0	rs8050209	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:88105725G>A	ENST00000393207.1	+	13	1616	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	BANP_ENST00000393208.2_Silent_p.A437A|BANP_ENST00000479780.2_Silent_p.A412A|BANP_ENST00000355163.5_Silent_p.A443A|BANP_ENST00000286122.7_Silent_p.A465A|BANP_ENST00000538234.1_Silent_p.A454A|BANP_ENST00000355022.4_Silent_p.A415A|BANP_ENST00000481948.1_3'UTR	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	465					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)		ACCCCGCGGCGGCGGGCGTGG	0.706													g|||	2278	0.454872	0.525	0.3804	5008	,	,		14347	0.3016		0.5388	False		,,,				2504	0.4847					.											0								A	,,,,,,	2401,1967		708,985,491	13	14	14		1353,1329,1236,1362,1395,1245,1311	-11.6	0	16	dbSNP_116	14	4625,3925		1296,2033,946	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BANP	NM_001173539.1,NM_001173540.1,NM_001173541.1,NM_001173542.1,NM_001173543.1,NM_017869.3,NM_079837.2	,,,,,,	2004,3018,1437	AA,AG,GG		45.9064,45.0321,45.6108	,,,,,,	451/506,443/498,412/467,454/509,465/520,415/470,437/492	88105725	7026,5892	2184	4275	6459	SO:0001819	synonymous_variant	54971			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.1395G>A	16.37:g.88105725G>A			A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	CCDS54054.1																																																																																				0.706	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		A	88105725	G	A	88105725	2	1	59	1	0	0	0	0	0	0	0	1	1310	1103	39	1		1	BANP	16	88105725	Silent	SNP	G	TCGA-KO-8409-01A-11D-2310-10	12836248	88105725	2249028	75	5919											
PELP1	27043	broad.mit.edu	37	chr17	4575433	4575433	+	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	tccagttcttcttcctcctcCtcatcctcctcttcttcttc	2	19	1	19	0	6	0	1	0	5	0	13	0	12	0	6	0	0	1	6	0	0	6	rs201455361	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:4575433C>T	ENST00000574876.1	-	16	2870	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	PELP1_ENST00000436683.2_Silent_p.E804E|PELP1_ENST00000269230.7_Silent_p.E861E|PELP1_ENST00000572293.1_Silent_p.E1001E|PELP1_ENST00000301396.4_Silent_p.E1095E			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	951	Glu-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						cttcctcctcctcatcctcct	0.498																																						.											0													60	65	63					17																	4575433		2079	4157	6236	SO:0001819	synonymous_variant	27043				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.2853G>A	17.37:g.4575433C>T			O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																				0.498	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		T	4575433	C	T	4575433	2	4	59	1	0	0	0	0	0	0	0	1	11725	680	24	4		4	PELP1	17	4575433	Silent	SNP	C	TCGA-KO-8409-01A-11D-2310-10		4575433	76619777	76	5920											
CCDC144A	9720	broad.mit.edu	37	chr17	16665752	16665753	+	Frame_Shift_Ins	INS	-	-	A																															tctccagaataaaaacttcgINScaagccgactttaataaaac																								rs200919178		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:16665752_16665753insA	ENST00000360524.8	+	14	3868_3869	c.3792_3793insA	c.(3793-3795)caafs	p.Q1265fs	CCDC144A_ENST00000399273.1_Frame_Shift_Ins_p.Q1265fs|CCDC144A_ENST00000456009.1_Frame_Shift_Ins_p.Q1031fs|CCDC144A_ENST00000443444.2_Frame_Shift_Ins_p.Q1265fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Ins_p.Q1265fs	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1265																	TAAAAACTTCGCAAGCCGACTT	0.347																																						.											0																																										SO:0001589	frameshift_variant	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	Exception_encountered	17.37:g.16665752_16665753insA	ENSP00000353717:p.Gln1265fs		O60311|Q6ZU57	Frame_Shift_Ins	INS	ENST00000360524.8	37	CCDS45621.1																																																																																				0.347	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			A	16665753	-	A	16665752	7	5	59	1	0	1	1	0	0	0	0	0	2777	1074	38	0	3846	0	CCDC144A	17	16665752	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	12090319	16665752	64529458	77	5921											
KRTAP9-2	83899	mdanderson.org	37	chr17	39383027	39383027	+	Missense_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	gcacaccctgctgccagcccGcctgctgtgtgtccagctgc	4	8	11	18	1	0	0	0	0	0	0	1	0	1	0	5	0	6	4	5	0	0	0	rs71371478	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:39383027G>T	ENST00000377721.3	+	1	128	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.A41S	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	41	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.A41S(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCAGCCCGCCTGCTGTGT	0.637																																						.											1	Substitution - Missense(1)	skin(1)											59	53	55					17																	39383027		2203	4300	6503	SO:0001583	missense	83899			AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.121G>T	17.37:g.39383027G>T	ENSP00000366950:p.Ala41Ser		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.020245	0.00418	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01192	5.2;5.4	2.86	-2.81	0.05805	.	.	.	.	.	T	0.00328	0.0010	N	0.00368	-1.59	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	9	0.02654	T	1	.	5.0512	0.14508	0.3642:0.0:0.0934:0.5425	.	41	Q9BYQ4	KRA92_HUMAN	S	41	ENSP00000366950:A41S;ENSP00000398325:A41S	ENSP00000366950:A41S	A	+	1	0	KRTAP9-2	36636553	0.000000	0.05858	0.088000	0.20740	0.203000	0.24098	-1.973000	0.01500	-1.243000	0.02519	-4.519000	0.00005	GCC		0.637	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			T	39383027	G	T	39383027	3	4	59	1	0	0	0	0	1	0	0	0	8573	1087	38	5	123	5	KRTAP9-2	17	39383027	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	22717275	39383027	41812183	78	5922											
CDC27	996	mdanderson.org	37	chr17	45234432	45234432	+	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	aatcaatataagacactgagGaatctgtattcaaggagtac	17	10	8	6	0	3	2	2	1	1	1	3	4	3	4	0	2	1	2	0	2	8	5	rs201187810		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:45234432G>T	ENST00000066544.3	-	7	782	c.689C>A	c.(688-690)tCc>tAc	p.S230Y	CDC27_ENST00000446365.2_Missense_Mutation_p.S169Y|CDC27_ENST00000531206.1_Missense_Mutation_p.S230Y|CDC27_ENST00000527547.1_Missense_Mutation_p.S230Y|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	230					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						AGACACTGAGGAATCTGTATT	0.318																																						.											0													36	40	38					17																	45234432		2180	4286	6466	SO:0001583	missense	996			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.689C>A	17.37:g.45234432G>T	ENSP00000066544:p.Ser230Tyr		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939804	0.52972	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.68479	-0.33;-0.31;-0.12;-0.33;0.82	5.44	5.44	0.79542	.	0.065886	0.64402	D	0.000007	T	0.55816	0.1944	N	0.19112	0.55	0.58432	D	0.999999	P;B;B;P	0.45283	0.855;0.011;0.043;0.855	B;B;B;B	0.41510	0.359;0.008;0.02;0.271	T	0.63292	-0.6670	10	0.66056	D	0.02	-14.3838	16.7505	0.85484	0.0:0.0:1.0:0.0	.	169;230;230;230	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Y	230;230;169;230;230	ENSP00000066544:S230Y;ENSP00000434614:S230Y;ENSP00000392802:S169Y;ENSP00000437339:S230Y;ENSP00000432105:S230Y	ENSP00000066544:S230Y	S	-	2	0	CDC27	42589431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.204000	0.77872	2.555000	0.86185	0.460000	0.39030	TCC		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234432	G	T	45234432	3	4	59	1	0	0	0	0	1	0	0	0	3066	1174	41	5	1855	5	CDC27	17	45234432	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	5851405	45234432	35960778	79	5923											
TTLL6	284076	broad.mit.edu	37	chr17	46847199	46847202	+	Frame_Shift_Del	DEL	CATG	CATG	-																															gatatcaaatgtggcttgttCatgtcactctttagcaaagt																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CATG	CATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:46847199_46847202delCATG	ENST00000393382.3	-	14	2439_2442	c.2298_2301delCATG	c.(2296-2301)gacatgfs	p.DM766fs	TTLL6_ENST00000433608.2_Frame_Shift_Del_p.DM459fs	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTGGCTTGTTCATGTCACTCTTTA	0.451																																						.											0																																										SO:0001589	frameshift_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2298_2301delCATG	17.37:g.46847199_46847202delCATG	ENSP00000377043:p.Asp766fs			Frame_Shift_Del	DEL	ENST00000393382.3	37	CCDS45724.1																																																																																				0.451	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		-	46847202	CATG	-	46847199	7	5	59	1	0	1	0	1	0	0	0	0	16728	826	29	0	382	0	TTLL6	17	46847199	Frame_Shift_Del	DEL	CATG	TCGA-KO-8409-01A-11D-2310-10	1612767	46847199	34348011	80	5924											
LPO	4025	ucsc.edu	37	chr17	56343529	56343529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtggaattgatcctcTggtgcggggcctgctggcca	5	9	17	10	1	1	1	0	1	1	0	2	2	2	2	3	7	2	2	3	7	1	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:56343529T>C	ENST00000262290.4	+	11	1851	c.1535T>C	c.(1534-1536)cTg>cCg	p.L512P	LPO_ENST00000421678.2_Missense_Mutation_p.L429P|LPO_ENST00000543544.1_Missense_Mutation_p.L453P|LPO_ENST00000582328.1_Missense_Mutation_p.L429P	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	512					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.L512Q(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ATTGATCCTCTGGTGCGGGGC	0.527																																						.											1	Substitution - Missense(1)	lung(1)											52	45	48					17																	56343529		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1535T>C	17.37:g.56343529T>C	ENSP00000262290:p.Leu512Pro		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424191	0.83667	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73469	-0.75;-0.75;-0.75	6.06	6.06	0.98353	.	0.132210	0.51477	D	0.000081	D	0.90386	0.6991	H	0.95574	3.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93004	0.6426	10	0.87932	D	0	-20.5675	15.7966	0.78416	0.0:0.0:0.0:1.0	.	429;512	E7EMJ3;P22079	.;PERL_HUMAN	P	512;429;453;257	ENSP00000262290:L512P;ENSP00000400245:L429P;ENSP00000445344:L453P	ENSP00000262290:L512P	L	+	2	0	LPO	53698528	0.453000	0.25721	0.998000	0.56505	0.997000	0.91878	3.968000	0.56809	2.315000	0.78130	0.533000	0.62120	CTG		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			C	56343529	T	C	56343529	3	2	59	1	0	0	0	0	1	0	0	0	8922	1580	55	2	1573	2	LPO	17	56343529	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	9496330	56343529	24851681	81	5925											
TEX14	56155	bcgsc.ca	37	chr17	56649410	56649410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgactgttccagcaagAggcaaactctgtcttaacct	10	13	7	11	0	3	2	0	1	3	1	4	2	4	2	2	1	3	3	2	1	3	4			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:56649410A>G	ENST00000240361.8	-	25	3812	c.3727T>C	c.(3727-3729)Tct>Cct	p.S1243P	TEX14_ENST00000349033.5_Missense_Mutation_p.S1197P|TEX14_ENST00000389934.3_Missense_Mutation_p.S1237P			Q8IWB6	TEX14_HUMAN	testis expressed 14	1243					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCCAGCAAGAGGCAAACTCT	0.418																																						.											0													102	102	102					17																	56649410		2203	4300	6503	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3727T>C	17.37:g.56649410A>G	ENSP00000240361:p.Ser1243Pro		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016712	0.35606	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.22539	1.95;1.95;1.95	4.83	4.83	0.62350	.	0.204155	0.35067	N	0.003470	T	0.36276	0.0961	L	0.56769	1.78	0.09310	N	1	D;D;D	0.65815	0.991;0.986;0.995	P;P;P	0.61800	0.786;0.814;0.894	T	0.12344	-1.0551	10	0.45353	T	0.12	-3.6102	10.7272	0.46074	1.0:0.0:0.0:0.0	.	1243;1197;1237	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	P	1243;1237;1197	ENSP00000240361:S1243P;ENSP00000374584:S1237P;ENSP00000268910:S1197P	ENSP00000240361:S1243P	S	-	1	0	TEX14	54004409	0.810000	0.29049	0.007000	0.13788	0.020000	0.10135	2.738000	0.47401	2.039000	0.60335	0.459000	0.35465	TCT		0.418	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			G	56649410	A	G	56649410	3	3	59	1	0	0	0	0	1	0	0	0	15775	304	11	2	802	2	TEX14	17	56649410	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	305881	56649410	24545800	82	5926											
GAA	2548	broad.mit.edu	37	chr17	78086495	78086495	+	Missense_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	ggagctcctgggagcagctcGcctcctccgtgccaggtgag	5	7	15	14	2	0	1	0	1	0	0	4	3	3	3	5	3	4	3	5	3	0	0			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:78086495G>T	ENST00000302262.3	+	13	2092	c.1873G>T	c.(1873-1875)Gcc>Tcc	p.A625S	GAA_ENST00000390015.3_Missense_Mutation_p.A625S	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	625					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGAGCAGCTCGCCTCCTCCGT	0.687																																						.											0													14	14	14					17																	78086495		2196	4290	6486	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1873G>T	17.37:g.78086495G>T	ENSP00000305692:p.Ala625Ser		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	6.601	0.479270	0.12581	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93133	-3.17;-3.17	4.97	-3.35	0.04928	Glycoside hydrolase, superfamily (1);	0.610435	0.18363	N	0.143511	D	0.89008	0.6593	L	0.49126	1.545	0.09310	N	1	B	0.16166	0.016	B	0.19666	0.026	T	0.73294	-0.4028	10	0.17832	T	0.49	-22.522	16.4366	0.83877	0.0:0.0:0.16:0.84	.	625	P10253	LYAG_HUMAN	S	625	ENSP00000305692:A625S;ENSP00000374665:A625S	ENSP00000305692:A625S	A	+	1	0	GAA	75701090	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.004000	0.13106	-0.282000	0.09128	-0.397000	0.06425	GCC		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78086495	G	T	78086495	3	4	59	1	0	0	0	0	1	0	0	0	6147	1087	38	5	1919	5	GAA	17	78086495	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	21437085	78086495	3108715	83	5927											
LAMA1	284217	broad.mit.edu	37	chr18	6949154	6949155	+	Frame_Shift_Ins	INS	-	-	C																															ggcctcctaggtagaacaaaINSccctccacatccagcatggt																								rs35759306		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr18:6949154_6949155insC	ENST00000389658.3	-	59	8594_8595	c.8501_8502insG	c.(8500-8502)ggtfs	p.G2834fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2834	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)				GGTAGAACAAACCCTCCACATC	0.48																																						.											0																																										SO:0001589	frameshift_variant	284217			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.8502dupG	18.37:g.6949157_6949157dupC	ENSP00000374309:p.Gly2834fs			Frame_Shift_Ins	INS	ENST00000389658.3	37	CCDS32787.1																																																																																				0.48	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	6949155	-	C	6949154	7	5	59	1	0	1	1	0	0	0	0	0	8605	30	2	0	745	0	LAMA1	18	6949154	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		6949154	71128094	84	5928											
ADAMTS10	81794	broad.mit.edu	37	chr19	8650351	8650352	+	Frame_Shift_Ins	INS	-	-	T																															cggctgacctcagaccagtcINSgagggccgcccactccggag																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:8650351_8650352insT	ENST00000597188.1	-	23	3123_3124	c.2853_2854insA	c.(2851-2856)ctcgacfs	p.D952fs	ADAMTS10_ENST00000270328.4_Frame_Shift_Ins_p.D952fs|AC130469.2_ENST00000597256.1_RNA|ADAMTS10_ENST00000595838.1_Frame_Shift_Ins_p.D439fs	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	952	TSP type-1 4. {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						TCAGACCAGTCGAGGGCCGCCC	0.713																																						.											0																																										SO:0001589	frameshift_variant	81794			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.2853_2854insA	19.37:g.8650351_8650352insT	ENSP00000471851:p.Asp952fs		M0QZE4	Frame_Shift_Ins	INS	ENST00000597188.1	37	CCDS12206.1																																																																																				0.713	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8650352	-	T	8650351	7	5	59	1	0	1	1	0	0	0	0	0	256	884	31	0	473	0	ADAMTS10	19	8650351	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		8650351	50478632	85	5929											
HOOK2	29911	mdanderson.org	37	chr19	12876964	12876964	+	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	gcgcggttggcatcctccagGtggcgctgcagctcctcctg	3	9	14	15	3	0	0	0	0	0	0	4	0	4	0	4	4	2	5	4	4	0	1	rs897804	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:12876964G>C	ENST00000397668.3	-	15	1537	c.1464C>G	c.(1462-1464)caC>caG	p.H488Q	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.H488Q	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	488	Sufficient for interaction with microtubules.		H -> Q (in dbSNP:rs897804). {ECO:0000269|PubMed:15489334}.		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						CATCCTCCAGGTGGCGCTGCA	0.706											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1086	0.216853	0.0325	0.2939	5008	,	,		12044	0.2321		0.4394	False		,,,				2504	0.1667					.											0								G	GLN/HIS,GLN/HIS	323,3541		20,283,1629	10	13	12		1464,1464	3.7	1	19	dbSNP_87	12	3246,5000		672,1902,1549	no	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	24,24	692,2185,3178	CC,CG,GG		39.3645,8.3592,29.4715	benign,benign	488/718,488/720	12876964	3569,8541	1932	4123	6055	SO:0001583	missense	29911			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.1464C>G	19.37:g.12876964G>C	ENSP00000380785:p.His488Gln	683	O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	599	0.2742673992673993	19	0.03861788617886179	120	0.3314917127071823	121	0.21153846153846154	339	0.4472295514511873	G	13.50	2.255926	0.39896	0.083592	0.393645	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.15718	2.4;2.4	4.77	3.69	0.42338	.	0.449885	0.22723	N	0.056436	T	0.00012	0.0000	N	0.04959	-0.14	0.32618	P	0.5237350000000001	B;B	0.15473	0.01;0.013	B;B	0.14023	0.006;0.01	T	0.47935	-0.9078	9	0.20046	T	0.44	-30.7248	6.3	0.21107	0.1135:0.3067:0.5798:0.0	rs897804;rs17850914;rs897804	488;488	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	Q	488	ENSP00000380785:H488Q;ENSP00000264827:H488Q	ENSP00000264827:H488Q	H	-	3	2	HOOK2	12737964	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.363000	0.34159	2.174000	0.68829	0.467000	0.42956	CAC		0.706	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		C	12876964	G	C	12876964	3	2	59	1	0	0	0	0	1	0	0	0	7283	1252	44	5	731	5	HOOK2	19	12876964	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	4226613	12876964	46252019	86	5930											
MAP1S	55201	broad.mit.edu	37	chr19	17838792	17838793	+	Frame_Shift_Ins	INS	-	-	C																															ccgcacccggaagcccctggINScccgccccaactcacgcgct																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:17838792_17838793insC	ENST00000324096.4	+	5	2750_2751	c.2599_2600insC	c.(2599-2601)gccfs	p.A867fs	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Frame_Shift_Ins_p.A841fs|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	867	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				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						GAAGCCCCTGGCCCGCCCCAAC	0.668																																						.											0																																										SO:0001589	frameshift_variant	55201			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.2602dupC	19.37:g.17838795_17838795dupC	ENSP00000325313:p.Ala867fs		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Frame_Shift_Ins	INS	ENST00000324096.4	37	CCDS32954.1																																																																																				0.668	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		C	17838793	-	C	17838792	7	5	59	1	0	1	1	0	0	0	0	0	9234	1203	42	0	2617	0	MAP1S	19	17838792	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	4961828	17838792	41290191	87	5931											
ACTN4	81	mdanderson.org;bcgsc.ca	37	chr19	39217630	39217630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggagcagctgctcaccAccattgcccgcaccatcaac	9	6	9	17	1	2	0	2	0	0	0	2	1	2	1	4	1	5	5	4	1	1	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:39217630A>G	ENST00000252699.2	+	18	2300	c.2224A>G	c.(2224-2226)Acc>Gcc	p.T742A	ACTN4_ENST00000390009.3_Missense_Mutation_p.T523A|ACTN4_ENST00000424234.2_Missense_Mutation_p.T352A	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	742	Mediates interaction with MICALL2. {ECO:0000250}.				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)			GCTGCTCACCACCATTGCCCG	0.637																																					Colon(168;199 1940 10254 46213 46384)	.											0													98	73	82					19																	39217630		2203	4300	6503	SO:0001583	missense	81			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.2224A>G	19.37:g.39217630A>G	ENSP00000252699:p.Thr742Ala		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.563257	0.65538	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.59912	1.85	0.58432	D	0.999998	B	0.02656	0.0	B	0.15484	0.013	T	0.27088	-1.0084	10	0.34782	T	0.22	.	12.4041	0.55430	1.0:0.0:0.0:0.0	.	742	O43707	ACTN4_HUMAN	A	742;352;523;178	ENSP00000252699:T742A;ENSP00000411187:T352A;ENSP00000439497:T523A;ENSP00000398393:T178A	ENSP00000252699:T742A	T	+	1	0	ACTN4	43909470	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.087000	0.94110	1.823000	0.53134	0.402000	0.26972	ACC		0.637	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			G	39217630	A	G	39217630	3	3	59	1	0	0	0	0	1	0	0	0	207	159	6	2	2294	2	ACTN4	19	39217630	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	21378838	39217630	19911353	88	5932											
EID2B	126272	mdanderson.org	37	chr19	40023308	40023308	+	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	tcggccactgggccttcccgAgcctcctgcacccgaacccc	5	6	9	21	3	0	0	0	0	0	0	3	2	2	0	8	2	3	1	8	2	1	1	rs1123301	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:40023308A>G	ENST00000326282.4	-	1	186	c.135T>C	c.(133-135)gcT>gcC	p.A45A	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	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;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTTCCCGAGCCTCCTGCA	0.751													.|||	4013	0.801318	0.8646	0.6484	5008	,	,		13555	0.8442		0.7425	False		,,,				2504	0.8405					.											0								G		3691,533		1630,431,51	7	9	8		135	0	0	19	dbSNP_86	8	6168,2264		2313,1542,361	no	coding-synonymous	EID2B	NM_152361.1		3943,1973,412	GG,GA,AA		26.8501,12.6184,22.1002		45/162	40023308	9859,2797	2112	4216	6328	SO:0001819	synonymous_variant	126272			AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.135T>C	19.37:g.40023308A>G				Silent	SNP	ENST00000326282.4	37	CCDS12539.1																																																																																				0.751	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		G	40023308	A	G	40023308	2	3	59	1	0	0	0	0	0	0	0	1	4988	291	11	2		2	EID2B	19	40023308	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	805678	40023308	19105675	89	5933											
FUZ	80199	broad.mit.edu	37	chr19	50312460	50312461	+	Frame_Shift_Ins	INS	-	-	G																															gggtgggctcggcccgcagaINSgtagacacagctccaggctc																								rs527949286		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:50312460_50312461insG	ENST00000313777.4	-	7	908_909	c.745_746insC	c.(745-747)ctcfs	p.L249fs	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000534008.1_5'Flank|FUZ_ENST00000445575.2_Frame_Shift_Ins_p.L249fs|FUZ_ENST00000528094.1_Frame_Shift_Ins_p.L213fs|FUZ_ENST00000533418.1_Frame_Shift_Ins_p.L199fs	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	249	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)		CGGCCCGCAGAGTAGACACAGC	0.673																																						.											0																																										SO:0001589	frameshift_variant	80199			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.746dupC	19.37:g.50312461_50312461dupG	ENSP00000313309:p.Leu249fs		B2RD86|B5MDH0|Q6PJY0|Q9H613	Frame_Shift_Ins	INS	ENST00000313777.4	37	CCDS12781.1																																																																																				0.673	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		G	50312461	-	G	50312460	7	5	59	1	0	1	1	0	0	0	0	0	6112	304	11	0	530	0	FUZ	19	50312460	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	10289152	50312460	8816523	90	5934											
SIGLEC11	114132	ucsc.edu	37	chr19	50455564	50455564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgcttacctgaagacgAcaaggcaggaacagaaagcg	15	4	12	10	3	0	3	0	1	0	2	0	6	0	4	2	2	4	2	2	2	5	1			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:50455564A>G	ENST00000447370.2	-	9	1829	c.1739T>C	c.(1738-1740)gTc>gCc	p.V580A	CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V484A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	580					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)		CCTGAAGACGACAAGGCAGGA	0.622																																						.											0													79	79	79					19																	50455564		2203	4300	6503	SO:0001583	missense	114132			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.1739T>C	19.37:g.50455564A>G	ENSP00000412361:p.Val580Ala			Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.712|9.712	1.157369|1.157369	0.21454|0.21454	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.56275	.|0.47	3.32|3.32	2.29|2.29	0.28610|0.28610	.|.	.|1.243010	.|0.05875	.|N	.|0.625446	T|T	0.40546|0.40546	0.1121|0.1121	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22746	.|0.003;0.074	.|B;B	.|0.15870	.|0.014;0.01	T|T	0.23013|0.23013	-1.0200|-1.0200	5|10	.|0.25751	.|T	.|0.34	.|.	5.4248|5.4248	0.16419|0.16419	0.8566:0.0:0.1434:0.0|0.8566:0.0:0.1434:0.0	.|.	.|484;580	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	P|A	474|580;484	.|ENSP00000412361:V580A	.|ENSP00000412361:V580A	S|V	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55147376|55147376	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	0.734000|0.734000	0.26101|0.26101	0.441000|0.441000	0.26529|0.26529	0.379000|0.379000	0.24179|0.24179	TCG|GTC		0.622	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		G	50455564	A	G	50455564	3	3	59	1	0	0	0	0	1	0	0	0	14307	275	10	2	369	2	SIGLEC11	19	50455564	Missense_Mutation	SNP	A	TCGA-KO-8409-01A-11D-2310-10	143104	50455564	8673419	91	5935											
NLRP13	126204	broad.mit.edu	37	chr19	56424477	56424477	+	Frame_Shift_Del	DEL	T	T	-																															ggtcttcccaacccctgcccTccccaccaagactatcgtct																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:56424477delT	ENST00000342929.3	-	5	705	c.706delA	c.(706-708)aggfs	p.R236fs	NLRP13_ENST00000588751.1_Frame_Shift_Del_p.R236fs	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	236	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACCCCTGCCCTCCCCACCAAG	0.502																																						.											0													114	116	115					19																	56424477		2203	4300	6503	SO:0001589	frameshift_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.706delA	19.37:g.56424477delT	ENSP00000343891:p.Arg236fs		Q7RTR5	Frame_Shift_Del	DEL	ENST00000342929.3	37	CCDS33119.1																																																																																				0.502	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		-	56424477	T	-	56424477	7	5	59	1	0	1	0	1	0	0	0	0	10475	1550	54	0	2451	0	NLRP13	19	56424477	Frame_Shift_Del	DEL	T	TCGA-KO-8409-01A-11D-2310-10	5968913	56424477	2704506	92	5936											
ZNF552	79818	mdanderson.org	37	chr19	58320162	58320162	+	Missense_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	catgcaacttacacctcttcGcaaacaacgcctcctcaaca	13	8	3	17	2	2	0	1	0	1	0	4	0	3	0	3	0	6	2	3	0	5	2	rs576029108	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:58320162G>A	ENST00000391701.1	-	3	639	c.470C>T	c.(469-471)gCg>gTg	p.A157V	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACACCTCTTCGCAAACAACGC	0.478													G|||	2	0.000399361	0.0015	0	5008	,	,		21428	0		0	False		,,,				2504	0					.											0													162	155	157					19																	58320162		2203	4300	6503	SO:0001583	missense	79818			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.470C>T	19.37:g.58320162G>A	ENSP00000375582:p.Ala157Val		B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.870767	0.00542	.	.	ENSG00000178935	ENST00000391701	T	0.04083	3.71	1.96	-0.803	0.10886	.	.	.	.	.	T	0.01592	0.0051	N	0.04043	-0.29	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46665	-0.9175	9	0.02654	T	1	.	2.7839	0.05368	0.6156:0.0:0.163:0.2214	.	153;157	B7Z1H1;Q9H707	.;ZN552_HUMAN	V	157	ENSP00000375582:A157V	ENSP00000375582:A157V	A	-	2	0	ZNF552	63011974	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.431000	0.06965	0.022000	0.15160	-1.451000	0.01035	GCG		0.478	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		A	58320162	G	A	58320162	3	1	59	1	0	0	0	0	1	0	0	0	17981	1087	38	1	757	1	ZNF552	19	58320162	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10	1895685	58320162	808821	93	5937											
C19orf18	147685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	58472845	58472845	+	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	cctctgagccctcttcttcaTctcctaataacggtatcctg	7	14	5	15	1	5	1	1	1	4	0	7	1	6	1	4	1	2	1	4	1	3	5			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:58472845T>G	ENST00000314391.3	-	5	547	c.446A>C	c.(445-447)gAt>gCt	p.D149A		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	149						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		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;0.017)		CTCTTCTTCATCTCCTAATAA	0.463																																						.											0													156	132	140					19																	58472845		2203	4300	6503	SO:0001583	missense	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.446A>C	19.37:g.58472845T>G	ENSP00000321519:p.Asp149Ala			Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.600617	0.46423	.	.	ENSG00000177025	ENST00000314391	T	0.58060	0.36	4.14	3.13	0.36017	.	0.617223	0.14394	N	0.322330	T	0.51991	0.1707	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.63703	0.917	T	0.33343	-0.9872	10	0.62326	D	0.03	-35.2486	6.2222	0.20687	0.0:0.1121:0.0:0.8879	.	149	Q8NEA5	CS018_HUMAN	A	149	ENSP00000321519:D149A	ENSP00000321519:D149A	D	-	2	0	C19orf18	63164657	0.002000	0.14202	0.012000	0.15200	0.002000	0.02628	0.138000	0.16016	0.940000	0.37473	0.379000	0.24179	GAT		0.463	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		G	58472845	T	G	58472845	3	3	59	1	0	0	0	0	1	0	0	0	1910	1435	50	5	209	5	C19orf18	19	58472845	Missense_Mutation	SNP	T	TCGA-KO-8409-01A-11D-2310-10	152683	58472845	656138	94	5938											
SIGLEC1	6614	broad.mit.edu	37	chr20	3677991	3677992	+	Splice_Site	INS	-	-	G																															caatggccaggacagtggctINSggagagcaggcggcacagct																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr20:3677991_3677992insG	ENST00000344754.4	-	9	2122		c.e9-2		SIGLEC1_ENST00000202578.4_Splice_Site	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin						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						GGACAGTGGCTGGAGAGCAGGC	0.658																																						.											0																																										SO:0001630	splice_region_variant	6614			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.2123-2->C	20.37:g.3677993_3677993dupG			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Splice_Site	INS	ENST00000344754.4	37	CCDS13060.1																																																																																				0.658	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	Intron	G	3677992	-	G	3677991	8	5	59	1	0	1	1	0	0	0	1	0	14305	1594	55	0	3060	0	SIGLEC1	20	3677991	Splice_Site	INS	-	TCGA-KO-8409-01A-11D-2310-10		3677991	59347529	95	5939											
POTEH	23784	broad.mit.edu	37	chr22	16266972	16266973	+	Frame_Shift_Ins	INS	-	-	T																															tcaggaaattgctggctttcINSaggtgttctgcttttccttg																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr22:16266972_16266973insT	ENST00000343518.6	-	9	1527_1528	c.1476_1477insA	c.(1474-1479)cctgaafs	p.E493fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	493										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCTGGCTTTCAGGTGTTCTGC	0.431																																						.											0																																										SO:0001589	frameshift_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1476_1477insA	22.37:g.16266972_16266973insT	ENSP00000340610:p.Glu493fs		A2CEK4|A6NCI1|A9Z1W0	Frame_Shift_Ins	INS	ENST00000343518.6	37	CCDS46658.1																																																																																				0.431	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		T	16266973	-	T	16266972	7	5	59	1	0	1	1	0	0	0	0	0	12267	835	29	0	168	0	POTEH	22	16266972	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10		16266972	35037594	96	5940											
RIMBP3	85376	broad.mit.edu	37	chr22	20458634	20458635	+	Frame_Shift_Ins	INS	-	-	C																															tgctccacgaagttggagggINScaccagcccccgccggccat																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr22:20458634_20458635insC	ENST00000426804.1	-	1	3151_3152	c.2667_2668insG	c.(2665-2670)gtgcccfs	p.P890fs	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	890	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									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)			AAGTTGGAGGGCACCAGCCCCC	0.609																																						.											0																																										SO:0001589	frameshift_variant	85376			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.2668dupG	22.37:g.20458635_20458635dupC	ENSP00000391564:p.Pro890fs		Q8IYP7|Q9BY94|Q9UFQ5	Frame_Shift_Ins	INS	ENST00000426804.1	37	CCDS46665.1																																																																																				0.609	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		C	20458635	-	C	20458634	7	5	59	1	0	1	1	0	0	0	0	0	13364	1203	42	0	2255	0	RIMBP3	22	20458634	Frame_Shift_Ins	INS	-	TCGA-KO-8409-01A-11D-2310-10	4191662	20458634	30845932	97	5941											
VCX3B	425054	mdanderson.org	37	chrX	8434221	8434221	+	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	cactgagtcaggagagccagGtggaggaaccactgagtcag	12	5	15	9	0	2	3	2	2	0	1	2	6	2	5	2	4	2	0	2	4	1	0			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:8434221G>C	ENST00000381032.1	+	3	845	c.538G>C	c.(538-540)Gtg>Ctg	p.V180L	VCX3B_ENST00000440654.2_Missense_Mutation_p.V130L|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.V148L|VCX3B_ENST00000444481.1_Missense_Mutation_p.V150L	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	180	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.V150L(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GGAGAGCCAGGTGGAGGAACC	0.587																																						.											1	Substitution - Missense(1)	skin(1)											8	22	18					X																	8434221		1381	3321	4702	SO:0001583	missense	425054				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.538G>C	X.37:g.8434221G>C	ENSP00000370420:p.Val180Leu		C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	0.012	-1.656353	0.00779	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T	0.18657	2.2;2.68;2.2;2.68	0.828	-1.66	0.08265	.	.	.	.	.	T	0.05960	0.0155	N	0.01109	-1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.39921	-0.9590	9	0.25106	T	0.35	.	7.6676	0.28441	0.0:0.491:0.509:0.0	.	150;130	Q9H321;E7ERZ8	VCX3B_HUMAN;.	L	180;150;130;148	ENSP00000370420:V180L;ENSP00000414780:V150L;ENSP00000410372:V130L;ENSP00000370417:V148L	ENSP00000370417:V148L	V	+	1	0	VCX3B	8394221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.042000	0.03539	-0.757000	0.04697	-1.693000	0.00726	GTG		0.587	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			C	8434221	G	C	8434221	3	2	59	1	0	0	0	0	1	0	0	0	17142	1261	44	5	458	5	VCX3B	23	8434221	Missense_Mutation	SNP	G	TCGA-KO-8409-01A-11D-2310-10		8434221	146836339	98	5942											
SATL1	340562	broad.mit.edu	37	chrX	84363631	84363632	+	5'UTR	INS	-	-	T																															ttggctggggcctgattggcINSttgggcctggttgcgatggg																										TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:84363631_84363632insT	ENST00000395409.3	-	0	342_343				SATL1_ENST00000509231.1_Frame_Shift_Ins_p.S115fs|SATL1_ENST00000332921.5_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCCTGATTGGCTTGGGCCTGGT	0.545											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001623	5_prime_UTR_variant	340562			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.-219->A	X.37:g.84363633_84363633dupT		1228	A0AVK7|E9PB72|Q5H8V9	Frame_Shift_Ins	INS	ENST00000395409.3	37																																																																																					0.545	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		T	84363632	-	T	84363631	6	5	59	0	1	1	1	0	0	0	0	0	13855	797	28	0		0	SATL1	23	84363631	5'UTR	INS	-	TCGA-KO-8409-01A-11D-2310-10	75929410	84363631	70906929	99	5943											
RGAG1	57529	broad.mit.edu	37	chrX	109698465	109698465	+	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	aaacgctgttactacctgaaAgagcatggagacccccaaga	15	6	9	11	1	0	4	0	1	0	3	0	5	0	4	3	1	4	3	3	1	5	2			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:109698465A>G	ENST00000465301.2	+	4	4329	c.4083A>G	c.(4081-4083)aaA>aaG	p.K1361K	RGAG1_ENST00000540313.1_Silent_p.K1361K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1361										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						ACTACCTGAAAGAGCATGGAG	0.483																																						.											0													225	195	205					X																	109698465		2203	4300	6503	SO:0001819	synonymous_variant	57529			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.4083A>G	X.37:g.109698465A>G			Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		G	109698465	A	G	109698465	2	3	59	1	0	0	0	0	0	0	0	1	13274	69	3	2		2	RGAG1	23	109698465	Silent	SNP	A	TCGA-KO-8409-01A-11D-2310-10	25334834	109698465	45572095	100	5944											
PRAMEF1	65121	mdanderson.org	37	chr1	12855822	12855822	+	Missense_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	tccactactcccaactcagtGccatcctgcctgccctgagc	7	9	6	19	0	1	1	1	1	0	0	4	1	4	1	6	0	6	0	6	0	2	1	rs148127907	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:12855822G>A	ENST00000332296.7	+	4	1205	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.A123T	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	368					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)		CCAACTCAGTGCCATCCTGCC	0.557													.|||	52	0.0103834	0	0.0029	5008	,	,		16217	0.0208		0.007	False		,,,				2504	0.0225					.											0													56	59	58					1																	12855822		2203	4296	6499	SO:0001583	missense	65121			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.1102G>A	1.37:g.12855822G>A	ENSP00000332134:p.Ala368Thr		Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.386490	0.25031	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.10668	2.85;2.85	1.56	1.56	0.23342	.	0.608476	0.16131	N	0.228175	T	0.08626	0.0214	L	0.35644	1.08	0.09310	N	1	B	0.22003	0.063	B	0.24848	0.056	T	0.24154	-1.0168	10	0.51188	T	0.08	.	6.5617	0.22489	0.0:0.0:1.0:0.0	.	368	O95521	PRAM1_HUMAN	T	368;123	ENSP00000332134:A368T;ENSP00000383616:A123T	ENSP00000332134:A368T	A	+	1	0	PRAMEF1	12778409	0.001000	0.12720	0.070000	0.20053	0.002000	0.02628	0.503000	0.22610	1.170000	0.42753	0.205000	0.17691	GCC		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12855822	G	A	12855822	3	1	60	1	0	0	0	0	1	0	0	0	12425	1319	46	4	1112	4	PRAMEF1	1	12855822	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		12855822	236394799	1	5945											
HNRNPCL1	343069	mdanderson.org	37	chr1	12907313	12907313	+	Missense_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	tgtcatcctctccttcctcaGcctctttttcatcatccttg	4	18	3	16	0	6	0	4	0	2	0	10	0	9	0	5	0	1	0	5	0	0	4	rs199978302	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:12907313G>A	ENST00000317869.6	-	2	1055	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	277						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCCTTCCTCAGCCTCTTTTTC	0.483																																						.											0													136	156	149					1																	12907313		2203	4300	6503	SO:0001583	missense	0			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.830C>T	1.37:g.12907313G>A	ENSP00000365370:p.Ala277Val		B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	9.441	1.088093	0.20390	.	.	ENSG00000179172	ENST00000317869	T	0.10192	2.9	0.926	0.926	0.19430	.	0.684130	0.13415	U	0.389546	T	0.18173	0.0436	L	0.43152	1.355	0.23440	N	0.997671	D	0.76494	0.999	D	0.75484	0.986	T	0.20371	-1.0277	10	0.14252	T	0.57	.	7.7533	0.28909	0.0:0.0:1.0:0.0	.	277	O60812	HNRCL_HUMAN	V	277	ENSP00000365370:A277V	ENSP00000365370:A277V	A	-	2	0	HNRNPCL1	12829900	0.994000	0.37717	0.938000	0.37757	0.160000	0.22226	1.263000	0.33004	0.814000	0.34374	0.173000	0.16961	GCT		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		A	12907313	G	A	12907313	3	1	60	1	0	0	0	0	1	0	0	0	7263	971	34	4	53	4	HNRNPCL1	1	12907313	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	51491	12907313	236343308	2	5946											
LOC440563	0	mdanderson.org	37	chr1	13183631	13183631	+	IGR	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	gctctgcagccaggttaataActgcaacctggctagcaatc	11	9	9	12	0	1	0	0	0	1	0	2	0	1	0	2	2	6	6	2	2	5	3	rs80009603	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:13183631A>T								RP13-221M14.3 (19163 upstream) : PRAMEF26 (32724 downstream)																							CAGGTTAATAACTGCAACCTG	0.502													.|||	165	0.0329473	0.0053	0.0173	5008	,	,		17952	0.0903		0.0348	False		,,,				2504	0.0204					.											0													59	45	49					1																	13183631		691	1587	2278	SO:0001628	intergenic_variant	0																															1.37:g.13183631A>T				Missense_Mutation	SNP		37																																																																																				0	0.502									T	13183631	A	T	13183631	1	4	60	0	1	0	0	0	0	0	0	0	8879	43	2	5		5	LOC440563	1	13183631	IGR	SNP	A	TCGA-KO-8410-01A-11D-2310-10	276318	13183631	236066990	3	5947											
PRAMEF18	391003	mdanderson.org	37	chr1	13474980	13474980	+	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	gacgtgtcattgccgtgaaaGcagaaagtggtgaggttgga	11	9	16	5	2	1	3	1	2	0	1	1	5	1	4	1	3	2	2	1	3	2	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:13474980G>A	ENST00000376126.2	-	3	1148	c.1149C>T	c.(1147-1149)tgC>tgT	p.C383C		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	383					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)		TGCCGTGAAAGCAGAAAGTGG	0.572																																						.											0													42	47	45					1																	13474980		2164	4248	6412	SO:0001819	synonymous_variant	391003					1p36.21	2013-01-17			ENSG00000204491			"-"	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1149C>T	1.37:g.13474980G>A				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	13474980	G	A	13474980	2	1	60	1	0	0	0	0	0	0	0	1	12433	963	34	4		4	PRAMEF18	1	13474980	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	291349	13474980	235775641	4	5948											
AMPD1	270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	115220103	115220103	+	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	1	0	0	0	0	0	0	0	0	aggcggggctcagcatgctgGtacttggcctccaccaggtc	6	8	14	13	1	1	0	1	0	0	0	3	0	2	0	3	6	3	4	3	6	1	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:115220103G>C	ENST00000520113.2	-	10	1371	c.1356C>G	c.(1354-1356)taC>taG	p.Y452*	AMPD1_ENST00000353928.6_Nonsense_Mutation_p.Y419*|AMPD1_ENST00000369538.3_Nonsense_Mutation_p.Y448*			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	452					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CAGCATGCTGGTACTTGGCCT	0.582																																						.											0													85	72	76					1																	115220103		2203	4300	6503	SO:0001587	stop_gained	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1356C>G	1.37:g.115220103G>C	ENSP00000430075:p.Tyr452*		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Nonsense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	37	6.308656	0.97462	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	.	.	.	5.85	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.064	10.6982	0.45911	0.2078:0.0:0.7922:0.0	.	.	.	.	X	452;448;419	.	ENSP00000316520:Y419X	Y	-	3	2	AMPD1	115021626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.502000	0.53332	0.384000	0.24942	-0.254000	0.11334	TAC		0.582	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			C	115220103	G	C	115220103	4	2	60	1	0	0	0	0	0	1	0	0	585	1256	44	5	1014	5	AMPD1	1	115220103	Nonsense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	101745123	115220103	134030518	5	5949											
THADA	63892	broad.mit.edu;bcgsc.ca	37	chr2	43755040	43755040	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttagtacttcagtgagttTcacaaaaccagtataagcca	14	12	7	8	0	2	1	2	1	0	0	2	1	2	1	2	0	3	4	2	0	6	7			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:43755040T>C	ENST00000405006.4	-	22	3703	c.3352A>G	c.(3352-3354)Aaa>Gaa	p.K1118E	THADA_ENST00000415080.2_Missense_Mutation_p.K828E|THADA_ENST00000330266.7_Missense_Mutation_p.K828E|THADA_ENST00000405975.2_Missense_Mutation_p.K1118E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1118										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)				TCAGTGAGTTTCACAAAACCA	0.313																																						.											0													208	201	203					2																	43755040		1838	4089	5927	SO:0001583	missense	63892			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.3352A>G	2.37:g.43755040T>C	ENSP00000385995:p.Lys1118Glu		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.83|13.83	2.353690|2.353690	0.41700|0.41700	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98|.	5.68|5.68	4.49|4.49	0.54785|0.54785	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.220796|.	0.41605|.	D|.	0.000860|.	T|.	0.47414|.	0.1444|.	L|L	0.45137|0.45137	1.4|1.4	0.31061|0.31061	N|N	0.714094|0.714094	D;D;P;D|.	0.67145|.	0.98;0.996;0.776;0.984|.	P;P;P;P|.	0.57620|.	0.758;0.824;0.536;0.802|.	T|.	0.50792|.	-0.8786|.	10|.	0.72032|.	D|.	0.01|.	.|.	12.0505|12.0505	0.53503|0.53503	0.0:0.0:0.2709:0.7291|0.0:0.0:0.2709:0.7291	.|.	828;1119;828;1118|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	E|W	828;1118;1119;828;1118|431	ENSP00000331105:K828E;ENSP00000386088:K1118E;ENSP00000416048:K828E;ENSP00000385995:K1118E|.	ENSP00000331105:K828E|.	K|X	-|-	1|3	0|0	THADA|THADA	43608544|43608544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.935000|3.935000	0.56560|0.56560	0.945000|0.945000	0.37605|0.37605	0.459000|0.459000	0.35465|0.35465	AAA|TGA		0.313	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43755040	T	C	43755040	3	2	60	1	0	0	0	0	1	0	0	0	15837	1792	62	4	2577	4	THADA	2	43755040	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		43755040	199444333	6	5950											
ADD2	119	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	70910791	70910791	+	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	ccgactcttctgcataggccCaaaggtgctcccggcccact	7	8	9	17	2	2	0	0	0	2	0	3	1	3	0	4	3	2	2	4	3	2	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:70910791C>A	ENST00000264436.4	-	10	1501	c.1057G>T	c.(1057-1059)Ggg>Tgg	p.G353W	ADD2_ENST00000430656.1_Missense_Mutation_p.G369W|ADD2_ENST00000355733.3_Missense_Mutation_p.G353W|ADD2_ENST00000407644.2_Missense_Mutation_p.G353W|ADD2_ENST00000413157.2_Missense_Mutation_p.G353W	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	353					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCATAGGCCCAAAGGTGCTC	0.632																																						.											0													47	42	44					2																	70910791		2203	4300	6503	SO:0001583	missense	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1057G>T	2.37:g.70910791C>A	ENSP00000264436:p.Gly353Trp		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608811	0.87258	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.09911	3.21;3.21;3.07;2.94;2.93	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	D;D;D;D	0.97110	0.981;0.965;0.958;1.0	T	0.03148	-1.1067	10	0.87932	D	0	-31.9107	15.5561	0.76196	0.0:1.0:0.0:0.0	.	369;353;353;353	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	W	353;353;353;353;353;369	ENSP00000264436:G353W;ENSP00000384677:G353W;ENSP00000347972:G353W;ENSP00000388072:G353W;ENSP00000398112:G369W	ENSP00000264436:G353W	G	-	1	0	ADD2	70764299	1.000000	0.71417	0.924000	0.36721	0.977000	0.68977	7.462000	0.80851	2.541000	0.85698	0.655000	0.94253	GGG		0.632	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		A	70910791	C	A	70910791	3	1	60	1	0	0	0	0	1	0	0	0	305	594	21	5	1328	5	ADD2	2	70910791	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	27155751	70910791	172288582	7	5951											
SLC4A10	57282	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	162757484	162757484	+	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	atggggaagcagagccccacGgaggacatagtggacctgaa	13	4	15	9	1	0	2	0	1	0	1	0	6	0	6	3	5	2	1	3	5	3	1			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:162757484G>A	ENST00000446997.1	+	12	1498	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G469R|SLC4A10_ENST00000375514.5_Missense_Mutation_p.G450R|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G439R|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G439R	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	469					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)	AGAGCCCCACGGAGGACATAG	0.458																																						.											0													46	52	50					2																	162757484		1953	4133	6086	SO:0001583	missense	57282				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.1405G>A	2.37:g.162757484G>A	ENSP00000393066:p.Gly469Arg		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960298	0.34565	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.31;-1.31	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.61703	1.905	0.58432	D	0.999999	D;B;D;P	0.53619	0.961;0.1;0.961;0.773	P;B;P;B	0.57548	0.823;0.023;0.823;0.14	T	0.81123	-0.1076	10	0.14252	T	0.57	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	450;469;439;469	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	R	450;439;439;438;469;469;468	ENSP00000364664:G450R;ENSP00000395797:G439R;ENSP00000272716:G439R;ENSP00000393066:G469R;ENSP00000404486:G469R	ENSP00000272716:G439R	G	+	1	0	SLC4A10	162465730	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.787000	0.85759	2.628000	0.89032	0.655000	0.94253	GGA		0.458	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		A	162757484	G	A	162757484	3	1	60	1	0	0	0	0	1	0	0	0	14651	1117	39	1	1536	1	SLC4A10	2	162757484	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	91846693	162757484	80441889	8	5952											
UGT1A9	54600	mdanderson.org	37	chr2	234580967	234580967	+	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	aattgcaggagtttgtttaaAgacaaaaaattagtagaata	19	12	8	2	0	0	2	0	0	0	2	0	3	0	3	0	1	1	4	0	1	10	7	rs28946876	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234580967A>G	ENST00000354728.4	+	1	469	c.387A>G	c.(385-387)aaA>aaG	p.K129K	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Silent_p.K129K|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	129					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GTTTGTTTAAAGACAAAAAAT	0.313																																						.											0													99	101	101					2																	234580967		2203	4300	6503	SO:0001819	synonymous_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.387A>G	2.37:g.234580967A>G			B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	CCDS2505.1																																																																																				0.313	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234580967	A	G	234580967	2	3	60	1	0	0	0	0	0	0	0	1	16949	69	3	2		2	UGT1A9	2	234580967	Silent	SNP	A	TCGA-KO-8410-01A-11D-2310-10	71823483	234580967	8618406	9	5953			1	50		3	3	68	N	C_AA_A	1.066728e-08
UGT1A9	54600	mdanderson.org	37	chr2	234581002	234581002	+	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	agaatacttaaaggagagttCttttgatgcagtgtttctcg	11	15	10	5	1	2	3	0	1	2	2	3	4	2	3	0	1	2	3	0	1	4	6	rs76167146	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234581002C>G	ENST00000354728.4	+	1	504	c.422C>G	c.(421-423)tCt>tGt	p.S141C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.S141C|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	141					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AAGGAGAGTTCTTTTGATGCA	0.358																																						.											0													125	125	125					2																	234581002		2203	4300	6503	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.422C>G	2.37:g.234581002C>G	ENSP00000346768:p.Ser141Cys		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	5.531	0.282927	0.10458	.	.	ENSG00000241119	ENST00000354728	T	0.62639	0.01	3.41	3.41	0.39046	.	.	.	.	.	T	0.61375	0.2342	M	0.81942	2.565	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.58036	-0.7707	9	0.66056	D	0.02	.	6.3779	0.21517	0.334:0.5079:0.1581:0.0	.	141;141	Q5DSZ5;O60656	.;UD19_HUMAN	C	141	ENSP00000346768:S141C	ENSP00000346768:S141C	S	+	2	0	UGT1A9	234245741	0.000000	0.05858	0.866000	0.34008	0.471000	0.32888	0.356000	0.20181	1.907000	0.55213	0.440000	0.28878	TCT		0.358	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		G	234581002	C	G	234581002	3	3	60	1	0	0	0	0	1	0	0	0	16949	913	32	5	424	5	UGT1A9	2	234581002	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	35	234581002	8618371	10	5954			1	50		3	3	68	N	C_AA_A	1.066728e-08
UGT1A9	54600	mdanderson.org	37	chr2	234581034	234581035	+	Missense_Mutation	DNP	AA	AA	GC																															tgtttctcgatccttttgatAactgtggcttaattgttgcc																										TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234581034_234581035AA>GC	ENST00000354728.4	+	1	536_537	c.454_455AA>GC	c.(454-456)AAc>GCc	p.N152A	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.N152A|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	152					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCTTTTGATAACTGTGGCTTA	0.396																																						.											0																																										SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	Exception_encountered	2.37:g.234581034_234581035delinsGC	ENSP00000346768:p.Asn152Ala		B8K285|P36509|Q9HAX0	Missense_Mutation	DNP	ENST00000354728.4	37	CCDS2505.1																																																																																				0.396	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		GC	234581035	AA	GC	234581034	3	3	60	1	0	0	0	0	1	0	0	0	16949	362	13	4	456	4	UGT1A9	2	234581034	Missense_Mutation	DNP	AA	TCGA-KO-8410-01A-11D-2310-10	32	234581034	8618339	11	5955			1	50		3	3	68	N	C_AA_A	1.066728e-08
PASK	23178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	242076636	242076636	+	Missense_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	ttaagctcagagggaaggtgGtaccgtccctggctcttcca	8	10	12	11	1	2	1	1	0	1	1	4	2	4	2	3	4	2	3	3	4	3	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:242076636G>A	ENST00000405260.1	-	7	1618	c.920C>T	c.(919-921)aCc>aTc	p.T307I	PASK_ENST00000544142.1_Missense_Mutation_p.T121I|PASK_ENST00000358649.4_Missense_Mutation_p.T307I|PASK_ENST00000403638.3_Missense_Mutation_p.T307I|PASK_ENST00000234040.4_Missense_Mutation_p.T307I|PASK_ENST00000539818.1_Missense_Mutation_p.T91I	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	307					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)		AGGGAAGGTGGTACCGTCCCT	0.567																																						.											0													79	77	78					2																	242076636		2203	4300	6503	SO:0001583	missense	23178			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.920C>T	2.37:g.242076636G>A	ENSP00000384016:p.Thr307Ile		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.846814|3.846814	0.71603|0.71603	.|.	.|.	ENSG00000115687|ENSG00000115687	ENST00000433589|ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	.|T;T;T;T;T;T;T	.|0.70164	.|0.88;-0.46;0.88;0.88;0.88;0.88;-0.46	5.26|5.26	3.36|3.36	0.38483|0.38483	.|.	.|0.255608	.|0.27072	.|N	.|0.021072	T|T	0.76090|0.76090	0.3939|0.3939	M|M	0.70595|0.70595	2.14|2.14	0.23198|0.23198	N|N	0.998137|0.998137	.|D;D;D;P;D	.|0.63046	.|0.961;0.992;0.977;0.921;0.961	.|P;P;P;B;P	.|0.62813	.|0.708;0.907;0.847;0.415;0.708	T|T	0.65512|0.65512	-0.6150|-0.6150	5|10	.|0.56958	.|D	.|0.05	.|.	10.6401|10.6401	0.45588|0.45588	0.0:0.1401:0.7161:0.1438|0.0:0.1401:0.7161:0.1438	.|.	.|272;121;307;307;307	.|B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;.;PASK_HUMAN	S|I	122|307;121;307;307;91;307;91	.|ENSP00000234040:T307I;ENSP00000441374:T121I;ENSP00000384016:T307I;ENSP00000351475:T307I;ENSP00000443083:T91I;ENSP00000384438:T307I;ENSP00000400734:T91I	.|ENSP00000234040:T307I	P|T	-|-	1|2	0|0	PASK|PASK	241725309|241725309	0.998000|0.998000	0.40836|0.40836	0.972000|0.972000	0.41901|0.41901	0.869000|0.869000	0.49853|0.49853	1.015000|1.015000	0.29963|0.29963	2.453000|2.453000	0.82957|0.82957	0.467000|0.467000	0.42956|0.42956	CCA|ACC		0.567	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242076636	G	A	242076636	3	1	60	1	0	0	0	0	1	0	0	0	11472	1261	44	3	3099	3	PASK	2	242076636	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	7495602	242076636	1122737	12	5956											
GCET2	257144	broad.mit.edu	37	chr3	111842562	111842562	+	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	tgatggccttgtacagagaaCccgatgattgatgagggtat	11	11	13	6	1	0	5	0	4	0	1	0	7	0	5	2	2	2	2	2	2	3	4	rs570762149	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:111842562C>A	ENST00000308910.4	-	6	461	c.277G>T	c.(277-279)Gtt>Ttt	p.V93F	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.V95F	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	93					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										GTACAGAGAACCCGATGATTG	0.483																																						.											0													140	118	126					3																	111842562		2203	4300	6503	SO:0001583	missense	257144			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"human germinal center-associated lymphoma"	607792	"germinal center expressed transcript 2"	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.277G>T	3.37:g.111842562C>A	ENSP00000309487:p.Val93Phe		C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474764	0.43942	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.2	2.41	0.29592	.	0.491893	0.17030	N	0.189773	T	0.51244	0.1663	L	0.56769	1.78	0.09310	N	1	D	0.63880	0.993	P	0.61132	0.884	T	0.34378	-0.9831	9	0.72032	D	0.01	-2.5888	6.4966	0.22146	0.0:0.7837:0.0:0.2163	.	93	Q8N6F7	GCET2_HUMAN	F	93;95;78;76;76	.	ENSP00000309487:V93F	V	-	1	0	GCET2	113325252	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.548000	0.23314	0.725000	0.32318	0.655000	0.94253	GTT		0.483	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785		A	111842562	C	A	111842562	3	1	60	1	0	0	0	0	1	0	0	0	6288	507	18	5	263	5	GCET2	3	111842562	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10		111842562	86179868	13	5957											
ATP6V1A	523	broad.mit.edu	37	chr3	113522467	113522467	+	Missense_Mutation	SNP	T	T	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	agataaaatcactctggaggTagcaaaacttatcaaagatg	18	9	8	6	0	3	2	2	0	1	2	3	3	3	3	0	2	2	2	0	2	7	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:113522467T>C	ENST00000273398.3	+	13	1640	c.1532T>C	c.(1531-1533)gTa>gCa	p.V511A	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Missense_Mutation_p.V478A	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	511					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)	ACTCTGGAGGTAGCAAAACTT	0.308																																						.											0													115	125	122					3																	113522467		2203	4295	6498	SO:0001583	missense	523			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.1532T>C	3.37:g.113522467T>C	ENSP00000273398:p.Val511Ala		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475070	0.84640	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.77229	-1.08;-1.08	5.54	5.54	0.83059	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89001	0.6591	M	0.86740	2.835	0.80722	D	1	P	0.52463	0.953	D	0.67725	0.953	D	0.90023	0.4129	10	0.51188	T	0.08	-7.4545	15.676	0.77321	0.0:0.0:0.0:1.0	.	511	P38606	VATA_HUMAN	A	228;511;478	ENSP00000273398:V511A;ENSP00000439874:V478A	ENSP00000273398:V511A	V	+	2	0	ATP6V1A	115005157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.994000	0.88315	2.100000	0.63781	0.528000	0.53228	GTA		0.308	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		C	113522467	T	C	113522467	3	2	60	1	0	0	0	0	1	0	0	0	1177	1638	57	2	1578	2	ATP6V1A	3	113522467	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	1679905	113522467	84499963	14	5958											
KIAA1407	57577	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr3	113775289	113775289	+	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	catccttttctttgagaaggAccttccctgaggcgccagga	8	11	10	12	1	1	2	0	2	1	1	3	5	3	4	4	3	0	0	4	3	1	4			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:113775289A>C	ENST00000295878.3	-	1	171	c.25T>G	c.(25-27)Tcc>Gcc	p.S9A	QTRTD1_ENST00000485050.1_5'Flank|QTRTD1_ENST00000479882.1_5'Flank|QTRTD1_ENST00000493014.1_5'Flank|KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR|QTRTD1_ENST00000281273.4_5'Flank	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	9										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTTGAGAAGGACCTTCCCTGA	0.602																																						.											0													121	131	128					3																	113775289		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.25T>G	3.37:g.113775289A>C	ENSP00000295878:p.Ser9Ala		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.810|0.810	-0.752298|-0.752298	0.03041|0.03041	.|.	.|.	ENSG00000163617|ENSG00000163617	ENST00000295878;ENST00000491000|ENST00000483766	T;T|.	0.44881|.	1.59;0.91|.	5.54|5.54	-1.63|-1.63	0.08345|0.08345	.|.	0.433787|.	0.23053|.	N|.	0.052470|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999983|0.999983	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.11329|.	0.006;0.006|.	T|T	0.26573|0.26573	-1.0099|-1.0099	10|6	0.02654|0.27082	T|T	1|0.32	.|.	3.19|3.19	0.06614|0.06614	0.302:0.4672:0.0924:0.1385|0.302:0.4672:0.0924:0.1385	.|.	9;9|.	C9JA89;Q8NCU4|.	.;K1407_HUMAN|.	A|G	9|33	ENSP00000295878:S9A;ENSP00000418099:S9A|.	ENSP00000295878:S9A|ENSP00000418991:V33G	S|V	-|-	1|2	0|0	KIAA1407|KIAA1407	115257979|115257979	0.033000|0.033000	0.19621|0.19621	0.003000|0.003000	0.11579|0.11579	0.017000|0.017000	0.09413|0.09413	0.144000|0.144000	0.16135|0.16135	-0.088000|-0.088000	0.12506|0.12506	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.602	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		C	113775289	A	C	113775289	3	2	60	1	0	0	0	0	1	0	0	0	8229	275	10	5	2853	5	KIAA1407	3	113775289	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	252822	113775289	84247141	15	5959											
LPHN3	23284	broad.mit.edu;mdanderson.org	37	chr4	62598528	62598528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgaacatttgtttgagTccgaccaccaatctggggcg	10	10	12	9	2	1	3	0	2	1	1	2	4	2	3	3	2	1	1	3	2	2	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:62598528T>C	ENST00000514591.1	+	7	780	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	LPHN3_ENST00000514996.1_Missense_Mutation_p.S151P|LPHN3_ENST00000508946.1_Missense_Mutation_p.S151P|LPHN3_ENST00000507625.1_Missense_Mutation_p.S219P|LPHN3_ENST00000509896.1_Missense_Mutation_p.S219P|LPHN3_ENST00000512091.2_Missense_Mutation_p.S151P|LPHN3_ENST00000506746.1_Missense_Mutation_p.S219P|LPHN3_ENST00000511324.1_Missense_Mutation_p.S219P|LPHN3_ENST00000514157.1_Missense_Mutation_p.S151P|LPHN3_ENST00000545650.1_Missense_Mutation_p.S151P|LPHN3_ENST00000506720.1_Missense_Mutation_p.S219P|LPHN3_ENST00000508693.1_Missense_Mutation_p.S219P|LPHN3_ENST00000506700.1_Missense_Mutation_p.S151P|LPHN3_ENST00000507164.1_Missense_Mutation_p.S219P|LPHN3_ENST00000504896.1_Missense_Mutation_p.S151P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTGTTTGAGTCCGACCACCA	0.408																																						.											0													35	33	33					4																	62598528		1872	4103	5975	SO:0001583	missense	23284			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.451T>C	4.37:g.62598528T>C	ENSP00000422533:p.Ser151Pro		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.985945	0.53934	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.77	5.77	0.91146	.	0.059262	0.64402	D	0.000001	D	0.93442	0.7908	M	0.75615	2.305	0.45899	D	0.998742	D;D;P	0.76494	0.997;0.999;0.718	D;D;B	0.83275	0.995;0.996;0.264	D	0.93591	0.6921	10	0.59425	D	0.04	.	11.2897	0.49244	0.0:0.0:0.1523:0.8477	.	151;219;151	E9PE04;E7EN28;Q9HAR2-2	.;.;.	P	151;151;219;219;151;151;151;151;151;219;219;219;151;151;151;219;219;151	ENSP00000423388:S151P;ENSP00000422533:S151P;ENSP00000423787:S219P;ENSP00000425033:S219P;ENSP00000424120:S151P;ENSP00000439831:S151P;ENSP00000421476:S219P;ENSP00000424030:S219P;ENSP00000421372:S219P;ENSP00000425201:S151P;ENSP00000423434:S151P;ENSP00000421627:S151P;ENSP00000420931:S219P;ENSP00000425884:S219P;ENSP00000424258:S151P	ENSP00000280009:S151P	S	+	1	0	LPHN3	62281123	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	4.972000	0.63756	2.206000	0.71126	0.455000	0.32223	TCC		0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			C	62598528	T	C	62598528	3	2	60	1	0	0	0	0	1	0	0	0	8917	1667	58	2	469	2	LPHN3	4	62598528	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		62598528	128555748	16	5960											
CXCL13	10563	broad.mit.edu	37	chr4	78528886	78528886	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctattacacaagcttgAggtgtagatgtgtccaagag	12	11	12	6	0	1	3	0	1	1	2	2	3	2	3	1	2	2	2	1	2	5	4			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:78528886A>G	ENST00000286758.4	+	3	172	c.94A>G	c.(94-96)Agg>Ggg	p.R32G		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	32					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CACAAGCTTGAGGTGTAGATG	0.373																																						.											0													170	157	161					4																	78528886		2203	4300	6503	SO:0001583	missense	10563			AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"Endogenous ligands"	10639	protein-coding gene	gene with protein product	"B-cell chemoattractant"	605149	"small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.94A>G	4.37:g.78528886A>G	ENSP00000286758:p.Arg32Gly			Missense_Mutation	SNP	ENST00000286758.4	37	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680365	0.29872	.	.	ENSG00000156234	ENST00000286758	T	0.15256	2.44	5.13	5.13	0.70059	Chemokine interleukin-8-like domain (2);	0.284845	0.31347	N	0.007820	T	0.19327	0.0464	L	0.55743	1.74	0.23834	N	0.996713	P	0.34997	0.479	B	0.36378	0.223	T	0.19679	-1.0298	10	0.87932	D	0	-18.6858	11.5101	0.50488	1.0:0.0:0.0:0.0	.	32	O43927	CXL13_HUMAN	G	32	ENSP00000286758:R32G	ENSP00000286758:R32G	R	+	1	2	CXCL13	78747910	0.975000	0.34042	0.344000	0.25628	0.006000	0.05464	3.864000	0.56024	2.281000	0.76405	0.528000	0.53228	AGG		0.373	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1			G	78528886	A	G	78528886	3	3	60	1	0	0	0	0	1	0	0	0	4081	295	11	2	100	2	CXCL13	4	78528886	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	15930358	78528886	112625390	17	5961											
FRAS1	80144	broad.mit.edu;mdanderson.org	37	chr4	79403634	79403634	+	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	ctcagctcagcacaaggagcCgaactgaccaaacccttcca	13	5	7	16	1	2	1	2	1	0	0	3	3	3	2	4	1	5	2	4	1	3	1	rs536123620		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:79403634C>T	ENST00000264895.6	+	58	9137	c.8697C>T	c.(8695-8697)gcC>gcT	p.A2899A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2895					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						CACAAGGAGCCGAACTGACCA	0.443													C|||	1	0.000199681	8e-04	0	5008	,	,		21295	0		0	False		,,,				2504	0					.											0													163	162	162					4																	79403634		1916	4128	6044	SO:0001819	synonymous_variant	80144			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.8697C>T	4.37:g.79403634C>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369210	0.24771	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.9	2.93	0.34026	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0223	0.19636	0.4432:0.4265:0.0:0.1303	.	.	.	.	X	1128	.	.	R	+	1	2	FRAS1	79622658	0.094000	0.21725	1.000000	0.80357	0.997000	0.91878	-0.625000	0.05534	1.474000	0.48178	0.585000	0.79938	CGA		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79403634	C	T	79403634	2	4	60	1	0	0	0	0	0	0	0	1	6042	639	23	1		1	FRAS1	4	79403634	Silent	SNP	C	TCGA-KO-8410-01A-11D-2310-10	874748	79403634	111750642	18	5962											
RAP1GDS1	5910	mdanderson.org	37	chr4	99341203	99341203	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgttatcagctggggTcacagaggcagttttgaaat	13	11	12	5	0	2	3	2	1	0	2	2	3	2	3	0	3	1	4	0	3	3	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:99341203T>C	ENST00000408927.3	+	11	1321	c.1208T>C	c.(1207-1209)gTc>gCc	p.V403A	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V404A|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V355A|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V312A|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V354A|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V404A	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	403					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCAGCTGGGGTCACAGAGGCA	0.333			T	NUP98	T-ALL																																	.		Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0													96	97	96					4																	99341203		1812	4083	5895	SO:0001583	missense	5910				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1208T>C	4.37:g.99341203T>C	ENSP00000386153:p.Val403Ala		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777893	0.90195	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.50001	0.76;1.53;0.76;0.76;0.76;0.76	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.48362	1.52	0.80722	D	1	D;D;D;B;B;D	0.58970	0.982;0.982;0.969;0.073;0.369;0.984	P;D;D;B;B;P	0.70227	0.869;0.968;0.93;0.008;0.116;0.832	T	0.56450	-0.7977	10	0.29301	T	0.29	-9.3056	16.6154	0.84909	0.0:0.0:0.0:1.0	.	312;354;355;403;404;404	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	A	355;312;403;404;354;404	ENSP00000369503:V355A;ENSP00000264572:V312A;ENSP00000386153:V403A;ENSP00000407157:V404A;ENSP00000386223:V354A;ENSP00000340454:V404A	ENSP00000264572:V312A	V	+	2	0	RAP1GDS1	99560226	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.664000	0.83830	2.315000	0.78130	0.533000	0.62120	GTC		0.333	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		C	99341203	T	C	99341203	3	2	60	1	0	0	0	0	1	0	0	0	13039	1667	58	2	1253	2	RAP1GDS1	4	99341203	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	19937569	99341203	91813073	19	5963											
GUCY1A3	2982	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr4	156638325	156638325	+	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	gtctaggtggagaccattggCgatgcctattgtgtagctgg	7	12	15	7	1	1	1	0	0	1	1	1	3	1	1	2	4	2	2	2	4	3	5	rs112384014		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:156638325C>T	ENST00000296518.7	+	8	1796	c.1587C>T	c.(1585-1587)ggC>ggT	p.G529G	GUCY1A3_ENST00000506455.1_Silent_p.G529G|GUCY1A3_ENST00000455639.2_Silent_p.G529G|GUCY1A3_ENST00000393832.3_Silent_p.G271G|GUCY1A3_ENST00000511108.1_Silent_p.G529G|GUCY1A3_ENST00000511507.1_Silent_p.G529G|GUCY1A3_ENST00000513574.1_Silent_p.G529G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	529	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.G529G(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGACCATTGGCGATGCCTATT	0.413																																						.											1	Substitution - coding silent(1)	large_intestine(1)											135	130	132					4																	156638325		2203	4300	6503	SO:0001819	synonymous_variant	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1587C>T	4.37:g.156638325C>T			D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.413	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			T	156638325	C	T	156638325	2	4	60	1	0	0	0	0	0	0	0	1	6894	755	27	1		1	GUCY1A3	4	156638325	Silent	SNP	C	TCGA-KO-8410-01A-11D-2310-10	57297122	156638325	34515951	20	5964											
FRG1	2483	mdanderson.org	37	chr4	190876272	190876272	+	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	tgggcgttcagatgcaattgGaccaagagaacaatgggaac	14	7	13	7	1	1	2	1	0	0	2	1	5	1	4	1	3	3	2	1	3	5	2	rs202104107		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:190876272G>A	ENST00000226798.4	+	5	620	c.398G>A	c.(397-399)gGa>gAa	p.G133E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	133					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GATGCAATTGGACCAAGAGAA	0.363																																						.											0													90	90	90					4																	190876272		2203	4300	6503	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.398G>A	4.37:g.190876272G>A	ENSP00000226798:p.Gly133Glu		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.419225	0.83559	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.63417	1.82;-0.04	4.04	4.04	0.47022	Actin cross-linking (1);	0.047717	0.85682	D	0.000000	T	0.75810	0.3900	M	0.87900	2.915	0.80722	D	1	P	0.50156	0.932	P	0.53401	0.725	T	0.81885	-0.0727	10	0.72032	D	0.01	5.2981	14.145	0.65344	0.0:0.0:1.0:0.0	.	133	Q14331	FRG1_HUMAN	E	133;70	ENSP00000226798:G133E;ENSP00000435943:G70E	ENSP00000226798:G133E	G	+	2	0	FRG1	191113266	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.413000	0.80104	1.964000	0.57103	0.567000	0.79289	GGA		0.363	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190876272	G	A	190876272	3	1	60	1	0	0	0	0	1	0	0	0	6046	1174	41	3	416	3	FRG1	4	190876272	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	34237947	190876272	278004	21	5965			2	51		2	2	36	G		7.687852e-05
FRG1	2483	mdanderson.org	37	chr4	190876307	190876307	+	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	gggaaccagtctttcaaaatGtaagtgctgttattgtttat	11	16	9	5	0	2	0	1	0	1	0	2	1	2	1	1	1	2	4	1	1	6	6	rs200854715		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:190876307G>A	ENST00000226798.4	+	5	654		c.e5+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTTTCAAAATGTAAGTGCTGT	0.328																																						.											0													74	74	74					4																	190876307		2202	4295	6497	SO:0001630	splice_region_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.432+1G>A	4.37:g.190876307G>A			A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	18.80	3.700931	0.68501	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7779	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191113301	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.413000	0.80104	1.879000	0.54435	0.567000	0.79289	.		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	A	190876307	G	A	190876307	5	1	60	1	0	0	0	0	0	0	1	0	6046	1391	48	4	451	4	FRG1	4	190876307	Splice_Site	SNP	G	TCGA-KO-8410-01A-11D-2310-10	35	190876307	277969	22	5966			2	51		2	2	36	G		7.687852e-05
LMBRD2	92255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	36136550	36136550	+	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	gaatttccaccaagccatacCccaacaacaacacaagaaga	19	4	4	14	0	0	2	0	0	0	2	1	3	1	2	5	0	5	0	5	0	8	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:36136550C>T	ENST00000296603.4	-	6	1070	c.608G>A	c.(607-609)gGg>gAg	p.G203E		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	203						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAGCCATACCCCAACAACAA	0.413																																						.											0													155	153	154					5																	36136550		2203	4300	6503	SO:0001583	missense	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.608G>A	5.37:g.36136550C>T	ENSP00000296603:p.Gly203Glu		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418317	0.96092	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.46451	0.87	6.17	6.17	0.99709	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73344	-0.4012	10	0.87932	D	0	-15.2823	20.8794	0.99867	0.0:1.0:0.0:0.0	.	203	Q68DH5	LMBD2_HUMAN	E	203;97	ENSP00000296603:G203E	ENSP00000296603:G203E	G	-	2	0	LMBRD2	36172307	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	7.401000	0.79962	2.941000	0.99782	0.655000	0.94253	GGG		0.413	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		T	36136550	C	T	36136550	3	4	60	1	0	0	0	0	1	0	0	0	8843	623	22	3	1531	3	LMBRD2	5	36136550	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10		36136550	144778710	23	5967											
ITGA2	3673	broad.mit.edu;hgsc.bcm.edu	37	chr5	52376390	52376393	+	Frame_Shift_Del	DEL	TCCC	TCCC	-																															ggcaactgtaatcatccacaTccctcagtataccaaagaaa																										TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	TCCC	TCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:52376390_52376393delTCCC	ENST00000296585.5	+	25	3121_3124	c.2978_2981delTCCC	c.(2977-2982)atccctfs	p.IP993fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	993					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATCATCCACATCCCTCAGTATACC	0.387																																						.											0																																										SO:0001589	frameshift_variant	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2978_2981delTCCC	5.37:g.52376390_52376393delTCCC	ENSP00000296585:p.Ile993fs		Q14595	Frame_Shift_Del	DEL	ENST00000296585.5	37	CCDS3957.1																																																																																				0.387	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		-	52376393	TCCC	-	52376390	7	5	60	1	0	1	0	1	0	0	0	0	7875	1435	50	0	3076	0	ITGA2	5	52376390	Frame_Shift_Del	DEL	TCCC	TCGA-KO-8410-01A-11D-2310-10	16239840	52376390	128538870	24	5968	158	2									
ITGA2	3673	bcgsc.ca	37	chr5	52376391	52376394	+	Frame_Shift_Del	DEL	TCCC	TCCC	-																															gcaactgtaatcatccacatCcctcagtataccaaagaaaa																										TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	TCCC	TCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:52376391_52376394delTCCC	ENST00000296585.5	+	25	3122_3125	c.2979_2982delTCCC	c.(2977-2982)attcccfs	p.IP993fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	993					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCATCCACATCCCTCAGTATACCA	0.392																																						.											0																																										SO:0001589	frameshift_variant	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2979_2982delTCCC	5.37:g.52376391_52376394delTCCC	ENSP00000296585:p.Ile993fs		Q14595	Frame_Shift_Del	DEL	ENST00000296585.5	37	CCDS3957.1																																																																																				0.392	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		-	52376394	TCCC	-	52376391	7	5	60	1	0	1	0	1	0	0	0	0	7875	845	30	0	3077	0	ITGA2	5	52376391	Frame_Shift_Del	DEL	TCCC	TCGA-KO-8410-01A-11D-2310-10	1	52376391	128538869	25	5969	158	2									
ADAMTS19	171019	ucsc.edu	37	chr5	128990039	128990039	+	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	tgctctcctgttggaaaagaAcagcctattcttctatcaga	11	13	7	10	0	4	2	1	0	3	2	5	3	4	3	2	1	3	2	2	1	5	5			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:128990039A>G	ENST00000274487.4	+	14	2344	c.2199A>G	c.(2197-2199)gaA>gaG	p.E733E	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	733	Cys-rich.					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)		TTGGAAAAGAACAGCCTATTC	0.368																																						.											0													94	98	97					5																	128990039		2203	4300	6503	SO:0001819	synonymous_variant	171019			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.2199A>G	5.37:g.128990039A>G				Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.368	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		G	128990039	A	G	128990039	2	3	60	1	0	0	0	0	0	0	0	1	264	40	2	2		2	ADAMTS19	5	128990039	Silent	SNP	A	TCGA-KO-8410-01A-11D-2310-10	76613648	128990039	51925221	26	5970											
NUPL2	11097	ucsc.edu	37	chr7	23221811	23221811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggacggcagcaaccgcAgcagcagccttcaggtgact	11	4	14	12	2	1	1	1	1	0	0	1	3	1	3	2	4	5	5	2	4	1	1	rs145987368	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr7:23221811A>G	ENST00000258742.5	+	1	366	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	NUPL2_ENST00000410002.3_Missense_Mutation_p.Q36R|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	36					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 export from nucleus (GO:0006611)|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)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCAACCGCAGCAGCAGCCT	0.642																																						.											0													51	41	45					7																	23221811		2203	4300	6503	SO:0001583	missense	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.107A>G	7.37:g.23221811A>G	ENSP00000258742:p.Gln36Arg		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429312	0.25726	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.43688	0.94;0.94;0.94	3.37	-0.0117	0.13991	.	0.351400	0.30093	N	0.010424	T	0.29355	0.0731	L	0.56769	1.78	0.09310	N	1	B	0.32160	0.358	B	0.32805	0.153	T	0.12192	-1.0557	10	0.30854	T	0.27	0.0757	1.0493	0.01576	0.3687:0.3359:0.1191:0.1763	.	36	O15504	NUPL2_HUMAN	R	36	ENSP00000258742:Q36R;ENSP00000387330:Q36R;ENSP00000401475:Q36R	ENSP00000258742:Q36R	Q	+	2	0	NUPL2	23188336	0.739000	0.28196	0.001000	0.08648	0.061000	0.15899	0.682000	0.25335	-0.130000	0.11599	0.533000	0.62120	CAG		0.642	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		G	23221811	A	G	23221811	3	3	60	1	0	0	0	0	1	0	0	0	10775	188	7	2	109	2	NUPL2	7	23221811	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10		23221811	135916852	27	5971											
AMAC1L2	83650	mdanderson.org	37	chr8	11188806	11188806	+	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	ttctcgtatggcttaccaggGttccaacctgccctcgctgg	5	12	10	14	2	1	0	0	0	1	0	4	0	2	0	4	3	3	4	4	3	3	4			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11188806G>C	ENST00000382435.4	+	1	410	c.191G>C	c.(190-192)gGt>gCt	p.G64A		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	64	EamA 1.					integral component of membrane (GO:0016021)		p.G64A(1)									GCTTACCAGGGTTCCAACCTG	0.637																																						.											1	Substitution - Missense(1)	skin(1)											151	146	148					8																	11188806		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.191G>C	8.37:g.11188806G>C	ENSP00000371872:p.Gly64Ala		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.054055	0.00390	.	.	ENSG00000177710	ENST00000382435	T	0.50277	0.75	0.34	0.34	0.15985	.	0.536315	0.15627	N	0.252577	T	0.16471	0.0396	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.07644	T	0.81	-3.0E-4	6.0882	0.19978	0.0:0.3644:0.6356:0.0	.	64	Q96KT7	S35G5_HUMAN	A	64	ENSP00000371872:G64A	ENSP00000371872:G64A	G	+	2	0	SLC35G5	11226216	0.005000	0.15991	0.845000	0.33349	0.156000	0.22039	0.073000	0.14640	-1.304000	0.02329	-1.954000	0.00483	GGT		0.637	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		C	11188806	G	C	11188806	3	2	60	1	0	0	0	0	1	0	0	0	560	1261	44	5	193	5	AMAC1L2	8	11188806	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		11188806	135175216	28	5972			3	52		3	3	680	N	G_C	1.109546e-06
AMAC1L2	83650	mdanderson.org	37	chr8	11189464	11189464	+	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	gcccaccctgccctggtgtgCgctgtcctgcattccgaggt	3	10	12	16	2	0	0	0	0	0	0	2	1	2	0	5	2	3	2	5	2	0	1	rs58771247	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11189464C>T	ENST00000382435.4	+	1	1068	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	283	EamA 2.					integral component of membrane (GO:0016021)											CCCTGGTGTGCGCTGTCCTGC	0.577													C|||	221	0.0441294	0.1626	0.0072	5008	,	,		18296	0		0	False		,,,				2504	0.001					.											0								C		547,3859	227.5+/-242.7	29,489,1685	128	122	124		849		0.2	8	dbSNP_129	124	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	SLC35G5	NM_054028.1		29,493,5980	TT,TC,CC		0.0465,12.4149,4.2372		283/339	11189464	551,12453	2203	4299	6502	SO:0001819	synonymous_variant	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.849C>T	8.37:g.11189464C>T			A2RRL6	Silent	SNP	ENST00000382435.4	37	CCDS5980.1																																																																																				0.577	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189464	C	T	11189464	2	4	60	1	0	0	0	0	0	0	0	1	560	776	27	1		1	AMAC1L2	8	11189464	Silent	SNP	C	TCGA-KO-8410-01A-11D-2310-10	658	11189464	135174558	29	5973			3	52		3	3	680	N	G_C	1.109546e-06
AMAC1L2	83650	mdanderson.org	37	chr8	11189485	11189485	+	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	gctgtcctgcattccgaggtGgttgtggcccttatactgca	5	13	12	11	1	0	0	0	0	0	0	2	1	2	0	3	3	3	4	3	3	2	4			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11189485G>T	ENST00000382435.4	+	1	1089	c.870G>T	c.(868-870)gtG>gtT	p.V290V		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	290	EamA 2.					integral component of membrane (GO:0016021)											ATTCCGAGGTGGTTGTGGCCC	0.572																																						.											0													131	119	123					8																	11189485		2203	4299	6502	SO:0001819	synonymous_variant	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.870G>T	8.37:g.11189485G>T			A2RRL6	Silent	SNP	ENST00000382435.4	37	CCDS5980.1																																																																																				0.572	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11189485	G	T	11189485	2	4	60	1	0	0	0	0	0	0	0	1	560	1335	47	5		5	AMAC1L2	8	11189485	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	21	11189485	135174537	30	5974			3	52		3	3	680	N	G_C	1.109546e-06
ADAM9	8754	bcgsc.ca	37	chr8	38912013	38912013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaggaatgtgaattggAcccttgctgcgaaggaagta	12	10	12	7	1	1	1	1	1	0	0	1	5	1	4	1	3	2	2	1	3	5	4			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:38912013A>G	ENST00000487273.2	+	13	1394	c.1316A>G	c.(1315-1317)gAc>gGc	p.D439G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	439	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)			TGTGAATTGGACCCTTGCTGC	0.358																																						.											0													130	112	118					8																	38912013		2203	4300	6503	SO:0001583	missense	8754			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.1316A>G	8.37:g.38912013A>G	ENSP00000419446:p.Asp439Gly		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937918	0.92526	.	.	ENSG00000168615	ENST00000487273	T	0.13196	2.61	5.77	5.77	0.91146	Blood coagulation inhibitor, Disintegrin (5);	0.143965	0.64402	D	0.000007	T	0.38931	0.1059	M	0.79926	2.475	0.80722	D	1	D	0.56746	0.977	D	0.62955	0.909	T	0.28396	-1.0045	10	0.72032	D	0.01	.	16.0937	0.81106	1.0:0.0:0.0:0.0	.	439	Q13443	ADAM9_HUMAN	G	439	ENSP00000419446:D439G	ENSP00000369249:D439G	D	+	2	0	ADAM9	39031170	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.766000	0.91728	2.211000	0.71520	0.455000	0.32223	GAC		0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			G	38912013	A	G	38912013	3	3	60	1	0	0	0	0	1	0	0	0	253	275	10	2	1366	2	ADAM9	8	38912013	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	27722528	38912013	107452009	31	5975											
ADHFE1	137872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	67357454	67357454	+	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	1	0	0	0	0	0	0	ttattttctcttctccaagcTtcatggaagctattgagttt	8	19	6	8	0	3	1	1	1	2	0	5	2	3	2	1	1	2	3	1	1	4	8			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:67357454T>G	ENST00000396623.3	+	6	386	c.355T>G	c.(355-357)Ttc>Gtc	p.F119V	ADHFE1_ENST00000415254.1_Splice_Site_p.F71V|ADHFE1_ENST00000379385.4_Splice_Site_p.F119V|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	119					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTCTCCAAGCTTCATGGAAGC	0.403																																						.											0													84	77	79					8																	67357454		2203	4300	6503	SO:0001630	splice_region_variant	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.354-1T>G	8.37:g.67357454T>G			B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929052	0.52759	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.64	5.64	0.86602	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	N	0.20304	0.555	0.80722	D	1	P	0.51933	0.949	D	0.62955	0.909	T	0.13361	-1.0512	10	0.27785	T	0.31	-13.8237	15.8683	0.79084	0.0:0.0:0.0:1.0	.	119	Q8IWW8	HOT_HUMAN	V	54;119;119;71	ENSP00000428055:F54V;ENSP00000368695:F119V;ENSP00000379865:F119V;ENSP00000407115:F71V	ENSP00000368695:F119V	F	+	1	0	ADHFE1	67520008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.707000	0.84623	2.148000	0.66965	0.533000	0.62120	TTC		0.403	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	Missense_Mutation	G	67357454	T	G	67357454	5	3	60	1	0	0	0	0	0	0	1	0	314	1623	56	5	377	5	ADHFE1	8	67357454	Splice_Site	SNP	T	TCGA-KO-8410-01A-11D-2310-10	28445441	67357454	79006568	32	5976											
FAM135B	51059	broad.mit.edu	37	chr8	139165349	139165349	+	Missense_Mutation	SNP	T	T	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	agacaagacaaggtcttcccTaaaagataaattgctattta	17	11	6	7	0	1	3	0	0	1	3	2	3	2	3	1	1	1	1	1	1	8	7			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:139165349T>C	ENST00000395297.1	-	13	1539	c.1369A>G	c.(1369-1371)Agg>Ggg	p.R457G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	457										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGTCTTCCCTAAAAGATAAA	0.373										HNSCC(54;0.14)																												.											0													76	73	74					8																	139165349		1884	4109	5993	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1369A>G	8.37:g.139165349T>C	ENSP00000378710:p.Arg457Gly		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	6.245	0.413338	0.11812	.	.	ENSG00000147724	ENST00000395297	T	0.16073	2.37	5.6	4.42	0.53409	.	1.343740	0.04323	N	0.350980	T	0.29093	0.0723	L	0.57536	1.79	0.09310	N	1	D;P;B	0.53462	0.96;0.775;0.22	P;B;B	0.47891	0.56;0.382;0.086	T	0.20571	-1.0271	10	0.51188	T	0.08	-0.0111	10.8283	0.46647	0.0:0.0:0.1583:0.8417	.	457;457;457	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	G	457	ENSP00000378710:R457G	ENSP00000276737:R457G	R	-	1	2	FAM135B	139234531	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.302000	0.19192	0.935000	0.37341	0.533000	0.62120	AGG		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139165349	T	C	139165349	3	2	60	1	0	0	0	0	1	0	0	0	5449	1521	53	2	2883	2	FAM135B	8	139165349	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	71807895	139165349	7198673	33	5977											
ELAVL2	1993	broad.mit.edu	37	chr9	23762052	23762052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactctatttcaccaatgcTcccaaagagactctttagtt	11	13	6	11	0	3	1	1	0	2	1	4	3	4	2	2	1	1	2	2	1	4	5			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr9:23762052T>C	ENST00000397312.2	-	2	455	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	ELAVL2_ENST00000544538.1_Missense_Mutation_p.S61G|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S90G|ELAVL2_ENST00000223951.6_Missense_Mutation_p.S61G|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S61G|ELAVL2_ENST00000462649.1_5'Flank	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	61	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCACCAATGCTCCCAAAGAGA	0.393																																						.											0													193	179	184					9																	23762052		2203	4300	6503	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.181A>G	9.37:g.23762052T>C	ENSP00000380479:p.Ser61Gly		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.364284	0.61513	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	L	0.31294	0.92	0.80722	D	1	D;D	0.63880	0.989;0.993	P;P	0.60682	0.805;0.878	T	0.01874	-1.1256	10	0.87932	D	0	.	16.371	0.83361	0.0:0.0:0.0:1.0	.	61;61	Q12926;Q12926-2	ELAV2_HUMAN;.	G	61;61;61;61;61;89;61	ENSP00000223951:S61G;ENSP00000380479:S61G;ENSP00000440998:S61G;ENSP00000369460:S61G;ENSP00000412602:S61G	ENSP00000223951:S61G	S	-	1	0	ELAVL2	23752052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.295000	0.72744	2.267000	0.75376	0.477000	0.44152	AGC		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		C	23762052	T	C	23762052	3	2	60	1	0	0	0	0	1	0	0	0	5050	1551	54	2	922	2	ELAVL2	9	23762052	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		23762052	117451379	34	5978											
OR13C2	392376	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	107367862	107367862	+	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	gtcttgggtgaccagaaagtCccttcagaaaaaattccacc	13	9	8	11	0	2	3	1	1	1	2	4	3	4	3	4	1	0	0	4	1	4	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr9:107367862C>T	ENST00000542196.1	-	1	89	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACCAGAAAGTCCCTTCAGAAA	0.373																																						.											0													38	42	41					9																	107367862		2192	4293	6485	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.47G>A	9.37:g.107367862C>T	ENSP00000438815:p.Gly16Glu		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129777	0.37630	.	.	ENSG00000257019	ENST00000542196	T	0.00655	5.95	3.39	3.39	0.38822	.	0.000000	0.37261	U	0.002175	T	0.05090	0.0136	M	0.92412	3.305	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.04885	-1.0920	10	0.87932	D	0	.	8.5624	0.33518	0.0:0.7617:0.2383:0.0	.	16	Q8NGS9	O13C2_HUMAN	E	16	ENSP00000438815:G16E	ENSP00000438815:G16E	G	-	2	0	OR13C2	106407683	0.006000	0.16342	0.693000	0.30195	0.714000	0.41099	1.382000	0.34374	1.723000	0.51488	0.462000	0.41574	GGA		0.373	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		T	107367862	C	T	107367862	3	4	60	1	0	0	0	0	1	0	0	0	10934	855	30	3	912	3	OR13C2	9	107367862	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	83605810	107367862	33845569	35	5979											
SIRT1	23411	broad.mit.edu	37	chr10	69648852	69648852	+	Frame_Shift_Del	DEL	A	A	-																															tgaaattactgcaagagtgcAaaaaaattatagttctaact																										TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:69648852delA	ENST00000212015.6	+	3	813	c.760delA	c.(760-762)aaafs	p.K255fs	SIRT1_ENST00000432464.1_Intron|SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	255	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.|Interaction with HIST1H1E.				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						GCAAGAGTGCAAAAAAATTAT	0.333																																						.											0													51	55	54					10																	69648852		2202	4299	6501	SO:0001589	frameshift_variant	23411			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.760delA	10.37:g.69648852delA	ENSP00000212015:p.Lys255fs		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Frame_Shift_Del	DEL	ENST00000212015.6	37	CCDS7273.1																																																																																				0.333	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			-	69648852	A	-	69648852	7	5	60	1	0	1	0	1	0	0	0	0	14337	131	5	0	770	0	SIRT1	10	69648852	Frame_Shift_Del	DEL	A	TCGA-KO-8410-01A-11D-2310-10		69648852	65885895	36	5980											
LZTS2	84445	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr10	102762597	102762597	+	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	cttccggacagagtcaccccCcagcccaagcagtgatgttg	9	7	10	15	1	1	2	1	1	0	1	2	3	2	3	5	1	2	2	5	1	1	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:102762597C>T	ENST00000370220.1	+	1	3365	c.302C>T	c.(301-303)cCc>cTc	p.P101L	LZTS2_ENST00000370223.3_Missense_Mutation_p.P101L					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)		GAGTCACCCCCCAGCCCAAGC	0.622																																					Esophageal Squamous(8;38 437 13604 19902 37640)	.											0													48	51	50					10																	102762597		2203	4300	6503	SO:0001583	missense	84445			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.302C>T	10.37:g.102762597C>T	ENSP00000359240:p.Pro101Leu			Missense_Mutation	SNP	ENST00000370220.1	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326461	0.41197	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.29397	1.57;1.57	4.78	4.78	0.61160	.	0.575630	0.18935	N	0.127095	T	0.14184	0.0343	N	0.08118	0	0.40738	D	0.982809	B	0.14012	0.009	B	0.06405	0.002	T	0.14309	-1.0477	10	0.21014	T	0.42	-13.9989	7.7296	0.28779	0.0:0.8173:0.0:0.1826	.	101	Q9BRK4	LZTS2_HUMAN	L	101	ENSP00000359243:P101L;ENSP00000359240:P101L	ENSP00000314437:P101L	P	+	2	0	LZTS2	102752587	0.018000	0.18449	0.992000	0.48379	0.934000	0.57294	0.303000	0.19210	2.349000	0.79799	0.561000	0.74099	CCC		0.622	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		T	102762597	C	T	102762597	3	4	60	1	0	0	0	0	1	0	0	0	9139	623	22	3	304	3	LZTS2	10	102762597	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	33113745	102762597	32772150	37	5981											
STK32C	282974	ucsc.edu	37	chr10	134121101	134121101	+	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	tccttgtcgtcaaacaccggCctccgcgcggtggccgccga	5	7	12	17	7	1	0	1	0	0	0	4	1	3	0	6	3	1	0	6	3	1	1			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:134121101C>T	ENST00000368625.4	-	1	387				STK32C_ENST00000368622.1_5'Flank					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CAAACACCGGCCTCCGCGCGG	0.706																																						.											0													24	28	26					10																	134121101		2164	4242	6406	SO:0001627	intron_variant	282974			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368625.4:c.301+23838G>A	10.37:g.134121101C>T				Silent	SNP	ENST00000368625.4	37																																																																																					0.706	STK32C-201	KNOWN	basic	protein_coding	protein_coding		NM_173575		T	134121101	C	T	134121101	1	4	60	0	1	0	0	0	0	0	0	0	15298	738	26	3		3	STK32C	10	134121101	Intron	SNP	C	TCGA-KO-8410-01A-11D-2310-10	31358504	134121101	1413646	38	5982											
MUC6	4588	mdanderson.org	37	chr11	1016773	1016773	+	Missense_Mutation	SNP	G	G	T																															caaggaggtggagaaaggtgGaacgtgagtgggaagtgtgg																										TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016773G>T	ENST00000421673.2	-	31	6078	c.6028C>A	c.(6028-6030)Cca>Aca	p.P2010T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2010	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)		GAGAAAGGTGGAACGTGAGTG	0.532																																						.											0													1076	1024	1042					11																	1016773		2203	4299	6502	SO:0001583	missense	4588			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.6028C>A	11.37:g.1016773G>T	ENSP00000406861:p.Pro2010Thr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.910	1.209366	0.22289	.	.	ENSG00000184956	ENST00000421673	T	0.57595	0.39	2.46	-2.25	0.06888	.	.	.	.	.	T	0.38081	0.1027	M	0.65975	2.015	0.09310	N	1	B	0.33413	0.411	B	0.26614	0.071	T	0.27020	-1.0086	9	0.34782	T	0.22	.	0.3267	0.00312	0.277:0.2017:0.3162:0.2051	.	2010	Q6W4X9	MUC6_HUMAN	T	2010	ENSP00000406861:P2010T	ENSP00000406861:P2010T	P	-	1	0	MUC6	1006773	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.333000	0.07894	-0.535000	0.06307	0.313000	0.20887	CCA		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016773	G	T	1016773	3	4	60	1	0	0	0	0	1	0	0	0	9980	1174	41	5	1303	5	MUC6	11	1016773	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		1016773	133989743	39	5983	159	3									
MUC6	4588	mdanderson.org	37	chr11	1016777	1016777	+	Silent	SNP	G	G	A																															gaggtggagaaaggtggaacGtgagtgggaagtgtggtctg																										TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016777G>A	ENST00000421673.2	-	31	6074	c.6024C>T	c.(6022-6024)caC>caT	p.H2008H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2008	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)		AAGGTGGAACGTGAGTGGGAA	0.537																																						.											0													1121	1075	1090					11																	1016777		2203	4299	6502	SO:0001819	synonymous_variant	4588			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.6024C>T	11.37:g.1016777G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016777	G	A	1016777	2	1	60	1	0	0	0	0	0	0	0	1	9980	1136	40	1		1	MUC6	11	1016777	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	4	1016777	133989739	40	5984	159	3									
MUC6	4588	mdanderson.org	37	chr11	1016787	1016787	+	Missense_Mutation	SNP	A	A	T																															aaggtggaacgtgagtgggaAgtgtggtctgagggtgtgat																										TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016787A>T	ENST00000421673.2	-	31	6064	c.6014T>A	c.(6013-6015)cTt>cAt	p.L2005H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2005	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)		GTGAGTGGGAAGTGTGGTCTG	0.537																																						.											0													1245	1214	1224					11																	1016787		2203	4299	6502	SO:0001583	missense	4588			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.6014T>A	11.37:g.1016787A>T	ENSP00000406861:p.Leu2005His		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823722	0.32237	.	.	ENSG00000184956	ENST00000421673	T	0.21932	1.98	3.08	-6.16	0.02098	.	.	.	.	.	T	0.14313	0.0346	L	0.58101	1.795	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.28681	-1.0036	9	0.42905	T	0.14	.	0.294	0.00262	0.2732:0.2364:0.2565:0.234	.	2005	Q6W4X9	MUC6_HUMAN	H	2005	ENSP00000406861:L2005H	ENSP00000406861:L2005H	L	-	2	0	MUC6	1006787	.	.	0.000000	0.03702	0.038000	0.13279	.	.	-2.379000	0.00595	0.254000	0.18369	CTT		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016787	A	T	1016787	3	4	60	1	0	0	0	0	1	0	0	0	9980	72	3	5	1317	5	MUC6	11	1016787	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	10	1016787	133989729	41	5985	159	3									
MUC6	4588	mdanderson.org	37	chr11	1017162	1017162	+	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	ctgtggccttgatcgtggtcGgtggaggaatggtgcctgtt	4	13	17	7	2	0	1	0	1	0	0	2	3	0	3	2	6	1	1	2	6	1	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1017162G>A	ENST00000421673.2	-	31	5689	c.5639C>T	c.(5638-5640)cCg>cTg	p.P1880L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1880	Approximate repeats.|Thr-rich.			PTTIKA -> LTTLMN (in Ref. 5; AAA35866). {ECO:0000305}.	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)		GATCGTGGTCGGTGGAGGAAT	0.572																																						.											0													537	524	529					11																	1017162		2201	4287	6488	SO:0001583	missense	4588			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.5639C>T	11.37:g.1017162G>A	ENSP00000406861:p.Pro1880Leu		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	1.995	-0.430731	0.04669	.	.	ENSG00000184956	ENST00000421673	T	0.24538	1.85	3.05	-4.43	0.03568	.	.	.	.	.	T	0.07728	0.0194	N	0.02539	-0.55	0.09310	N	1	B	0.31351	0.32	B	0.30179	0.112	T	0.29397	-1.0013	9	0.33141	T	0.24	.	4.4014	0.11388	0.2204:0.0:0.3208:0.4588	.	1880	Q6W4X9	MUC6_HUMAN	L	1880	ENSP00000406861:P1880L	ENSP00000406861:P1880L	P	-	2	0	MUC6	1007162	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.624000	0.05540	-0.880000	0.03997	-0.823000	0.03104	CCG		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017162	G	A	1017162	3	1	60	1	0	0	0	0	1	0	0	0	9980	1116	39	1	1692	1	MUC6	11	1017162	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	375	1017162	133989354	42	5986											
OR4C3	256144	mdanderson.org	37	chr11	48346513	48346513	+	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	atgcaattagttctattactTatgtttctccttgtctttat	8	22	4	7	0	3	0	0	0	3	0	4	0	3	0	1	0	2	3	1	0	6	9	rs78206553	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:48346513T>C	ENST00000319856.4	+	1	42	c.21T>C	c.(19-21)ctT>ctC	p.L7L		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						TTCTATTACTTATGTTTCTCC	0.353																																						.											0													114	119	117					11																	48346513		2201	4298	6499	SO:0001819	synonymous_variant	256144			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.21T>C	11.37:g.48346513T>C			B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	CCDS31489.1																																																																																				0.353	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		C	48346513	T	C	48346513	2	2	60	1	0	0	0	0	0	0	0	1	11050	1741	61	4		4	OR4C3	11	48346513	Silent	SNP	T	TCGA-KO-8410-01A-11D-2310-10	47329351	48346513	86660003	43	5987											
PRB2	653247	mdanderson.org	37	chr12	11546395	11546395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtttgttgcctccttgtGggggtggtccttgtggcttt	1	17	16	7	0	0	0	0	0	0	0	2	1	2	0	3	5	1	3	3	5	0	5	rs11054277	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:11546395G>T	ENST00000389362.4	-	3	652	c.617C>A	c.(616-618)cCa>cAa	p.P206Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	206	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P185Q(1)|p.P206Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.602													g|||	257	0.0513179	0.0091	0.062	5008	,	,		19479	0.0804		0.1113	False		,,,				2504	0.0092					.											2	Substitution - Missense(2)	lung(2)											68	78	75					12																	11546395		2075	4125	6200	SO:0001583	missense	653247			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.617C>A	12.37:g.11546395G>T	ENSP00000374013:p.Pro206Gln		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	13.45	2.239350	0.39598	.	.	ENSG00000121335	ENST00000389362	T	0.04551	3.6	1.46	-2.65	0.06095	.	0.000000	0.35466	U	0.003186	T	0.04907	0.0132	L	0.33792	1.035	0.22888	N	0.998607	D	0.59357	0.985	P	0.52031	0.688	T	0.29882	-0.9997	10	0.42905	T	0.14	.	3.3379	0.07107	0.2091:0.2667:0.5243:0.0	.	206	P02812	PRB2_HUMAN	Q	206	ENSP00000374013:P206Q	ENSP00000374013:P206Q	P	-	2	0	PRB2	11437662	0.001000	0.12720	0.029000	0.17559	0.747000	0.42532	-0.415000	0.07106	-0.824000	0.04295	0.291000	0.19559	CCA		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546395	G	T	11546395	3	4	60	1	0	0	0	0	1	0	0	0	12443	1348	47	5	637	5	PRB2	12	11546395	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		11546395	122305500	44	5988											
LST-3TM12	338821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	21242855	21242855	+	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	ttcacagaagagccttcttcGgcttgaaggtagccctaata	11	11	9	10	1	2	3	1	1	1	2	3	3	2	3	2	2	2	2	2	2	5	7	rs112108376		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:21242855G>A	ENST00000421593.2	+	13	1738	c.1738G>A	c.(1738-1740)Ggc>Agc	p.G580S	RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G627S|LST3_ENST00000540229.1_Missense_Mutation_p.G688S|LST3_ENST00000381541.3_Missense_Mutation_p.G627S|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G688S	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	580						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGCCTTCTTCGGCTTGAAGGT	0.303													G|||	1	0.000199681	8e-04	0	5008	,	,		15372	0		0	False		,,,				2504	0					.											0								G	SER/GLY	0,3646		0,0,1823	55	54	55		1738	0.7	0	12	dbSNP_132	55	3,8171		0,3,4084	yes	missense	SLCO1B7	NM_001009562.4	56	0,3,5907	AA,AG,GG		0.0367,0.0,0.0254		580/641	21242855	3,11817	1823	4087	5910	SO:0001583	missense	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1738G>A	12.37:g.21242855G>A	ENSP00000394168:p.Gly580Ser		Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	12.20	1.865807	0.32977	0.0	3.67E-4	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	D;T;D;T;D;T	0.86230	-2.09;0.99;-2.09;0.99;-2.09;-1.02	2.57	0.657	0.17850	.	0.060842	0.64402	N	0.000004	D	0.89100	0.6619	M	0.71206	2.165	0.09310	N	1	D;D;P	0.63046	0.992;0.992;0.792	P;P;B	0.62184	0.899;0.899;0.149	T	0.79750	-0.1672	10	0.56958	D	0.05	.	4.9992	0.14255	0.3056:0.0:0.6944:0.0	.	580;627;688	G3V0H7;F5H094;Q5JAR4	.;.;.	S	688;627;688;627;580;89	ENSP00000451758:G688S;ENSP00000370952:G627S;ENSP00000441269:G688S;ENSP00000452013:G627S;ENSP00000394168:G580S;ENSP00000439857:G89S	ENSP00000370952:G627S	G	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134122	0.059000	0.20769	0.001000	0.08648	0.001000	0.01503	0.457000	0.21875	0.151000	0.19162	0.505000	0.49811	GGC		0.303	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		A	21242855	G	A	21242855	3	1	60	1	0	0	0	0	1	0	0	0	9066	1116	39	1	1788	1	LST-3TM12	12	21242855	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	9696460	21242855	112609040	45	5989											
ZDHHC17	23390	broad.mit.edu;mdanderson.org	37	chr12	77216266	77216266	+	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	caagaggcaaggcaagcaaaAggatatgacaatccgtcctt	16	6	10	9	1	0	2	0	1	0	1	2	3	2	3	2	3	1	3	2	3	7	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:77216266A>G	ENST00000426126.2	+	8	1501	c.852A>G	c.(850-852)aaA>aaG	p.K284K	ZDHHC17_ENST00000334822.5_Silent_p.K284K	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	284					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						GGCAAGCAAAAGGATATGACA	0.368																																						.											0													58	56	57					12																	77216266		1863	4108	5971	SO:0001819	synonymous_variant	23390			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.852A>G	12.37:g.77216266A>G			B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	CCDS44946.1																																																																																				0.368	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		G	77216266	A	G	77216266	2	3	60	1	0	0	0	0	0	0	0	1	17604	69	3	2		2	ZDHHC17	12	77216266	Silent	SNP	A	TCGA-KO-8410-01A-11D-2310-10	55973411	77216266	56635629	46	5990											
TDG	6996	mdanderson.org	37	chr12	104376608	104376608	+	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	tttatgtcagggctcagtgaGgtccagctgaaccatatgga	10	11	12	8	0	2	2	2	2	0	0	3	3	3	3	2	3	2	2	2	3	3	3	rs61937629	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:104376608G>A	ENST00000392872.3	+	5	744	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TDG_ENST00000266775.9_Silent_p.E166E|TDG_ENST00000542036.1_5'UTR|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Silent_p.E27E	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	170					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.E170E(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GGCTCAGTGAGGTCCAGCTGA	0.443								Base excision repair (BER), DNA glycosylases																														.											1	Substitution - coding silent(1)	stomach(1)											124	116	118					12																	104376608		2203	4300	6503	SO:0001819	synonymous_variant	6996			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.510G>A	12.37:g.104376608G>A			Q8IUZ6|Q8IZM3	Silent	SNP	ENST00000392872.3	37	CCDS9095.1																																																																																				0.443	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			A	104376608	G	A	104376608	2	1	60	1	0	0	0	0	0	0	0	1	15722	991	35	4		4	TDG	12	104376608	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	27160342	104376608	29475287	47	5991											
MCF2L	23263	ucsc.edu;bcgsc.ca	37	chr13	113750740	113750740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggaggccccgatgcgcTgcgcgtgaggagcggggacg	7	3	21	10	6	0	1	0	1	0	0	0	6	0	4	2	5	3	1	2	5	1	0			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr13:113750740T>C	ENST00000375608.3	+	29	3279	c.3221T>C	c.(3220-3222)cTg>cCg	p.L1074P	MCF2L_ENST00000535094.2_Missense_Mutation_p.L1044P|MCF2L_ENST00000434480.2_Missense_Mutation_p.L1050P|MCF2L_ENST00000397030.1_Missense_Mutation_p.L1077P|MCF2L_ENST00000423482.2_Missense_Mutation_p.L1042P|MCF2L_ENST00000442652.2_Missense_Mutation_p.L1074P|MCF2L_ENST00000375601.3_Missense_Mutation_p.L1048P|MCF2L_ENST00000375604.2_Missense_Mutation_p.L1101P|MCF2L_ENST00000421756.1_Missense_Mutation_p.L1048P			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1074	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)				CCCGATGCGCTGCGCGTGAGG	0.706																																						.											0													22	33	30					13																	113750740		1558	3575	5133	SO:0001583	missense	23263			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.3221T>C	13.37:g.113750740T>C	ENSP00000364758:p.Leu1074Pro		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.63|18.63	3.664825|3.664825	0.67700|0.67700	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000261963;ENST00000420013|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000440749	.|T;T;T;T;T;T;T;T;T	.|0.50277	.|1.88;1.88;1.88;0.75;1.88;0.75;1.88;1.88;1.88	5.14|5.14	3.97|3.97	0.46021|0.46021	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.234273	.|0.36134	.|N	.|0.002773	T|T	0.74145|0.74145	0.3678|0.3678	H|H	0.94462|0.94462	3.54|3.54	0.44123|0.44123	D|D	0.996903|0.996903	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.80764	.|0.99;0.99;0.99;0.994	T|T	0.78132|0.78132	-0.2323|-0.2323	5|10	.|0.87932	.|D	.|0	.|.	9.842|9.842	0.41004|0.41004	0.0:0.0811:0.0:0.9189|0.0:0.0811:0.0:0.9189	.|.	.|1042;1044;1101;1074	.|E9PDN8;O15068-9;G5E9A1;O15068	.|.;.;.;MCF2L_HUMAN	R|P	215;116|1074;1074;1101;1077;1044;1048;1048;1050;1042;885	.|ENSP00000364758:L1074P;ENSP00000401422:L1074P;ENSP00000364754:L1101P;ENSP00000380225:L1077P;ENSP00000440374:L1044P;ENSP00000397285:L1048P;ENSP00000364751:L1048P;ENSP00000407722:L1050P;ENSP00000405639:L1042P	.|ENSP00000364751:L1048P	C|L	+|+	1|2	0|0	MCF2L|MCF2L	112798741|112798741	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	5.360000|5.360000	0.66086|0.66086	0.808000|0.808000	0.34231|0.34231	0.460000|0.460000	0.39030|0.39030	TGC|CTG		0.706	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			C	113750740	T	C	113750740	3	2	60	1	0	0	0	0	1	0	0	0	9379	1580	55	2	3507	2	MCF2L	13	113750740	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		113750740	1419138	48	5992											
C14orf101	54916	bcgsc.ca	37	chr14	57082681	57082681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcaagtaacaaatatgAggaccgaactctcattcaac	15	10	6	10	1	3	1	3	1	2	0	5	3	3	2	1	1	3	2	1	1	6	4			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:57082681A>G	ENST00000261556.6	+	8	999	c.877A>G	c.(877-879)Agg>Ggg	p.R293G	TMEM260_ENST00000538838.1_Missense_Mutation_p.R293G|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	293						integral component of membrane (GO:0016021)											AACAAATATGAGGACCGAACT	0.313																																						.											0													131	135	134					14																	57082681		2203	4299	6502	SO:0001583	missense	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.877A>G	14.37:g.57082681A>G	ENSP00000261556:p.Arg293Gly		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	9.038	0.989011	0.18966	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.42900	1.55;0.96	5.89	5.89	0.94794	.	0.493681	0.24808	N	0.035431	T	0.35393	0.0930	L	0.44542	1.39	0.80722	D	1	B	0.21520	0.057	B	0.14023	0.01	T	0.11567	-1.0582	10	0.22109	T	0.4	-9.7491	13.8303	0.63377	1.0:0.0:0.0:0.0	.	293	Q9NX78	CN101_HUMAN	G	293	ENSP00000261556:R293G;ENSP00000441934:R293G	ENSP00000261556:R293G	R	+	1	2	C14orf101	56152434	1.000000	0.71417	0.998000	0.56505	0.345000	0.29048	4.855000	0.62925	2.250000	0.74265	0.477000	0.44152	AGG		0.313	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		G	57082681	A	G	57082681	3	3	60	1	0	0	0	0	1	0	0	0	1734	295	11	2	907	2	C14orf101	14	57082681	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10		57082681	50266859	49	5993											
LTBP2	4053	ucsc.edu	37	chr14	74995365	74995365	+	Missense_Mutation	SNP	T	T	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	tgtcggagctcgcgtaggtgTagccgtggccggcagggcag	5	7	19	10	5	0	0	0	0	0	0	2	1	0	1	2	5	2	5	2	5	2	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:74995365T>C	ENST00000261978.4	-	12	2575	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	LTBP2_ENST00000556690.1_Missense_Mutation_p.Y730C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	730					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGCGTAGGTGTAGCCGTGGCC	0.627																																						.											0													39	39	39					14																	74995365		2203	4299	6502	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2189A>G	14.37:g.74995365T>C	ENSP00000261978:p.Tyr730Cys		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429018	0.83667	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91180	-2.8;-2.8	5.54	5.54	0.83059	Matrix fibril-associated (2);	0.000000	0.38164	N	0.001785	D	0.92028	0.7474	L	0.34521	1.04	0.47659	D	0.999489	D	0.89917	1.0	D	0.87578	0.998	D	0.92040	0.5640	10	0.49607	T	0.09	.	13.3018	0.60330	0.0:0.0:0.0:1.0	.	730	Q14767	LTBP2_HUMAN	C	730	ENSP00000261978:Y730C;ENSP00000451477:Y730C	ENSP00000261978:Y730C	Y	-	2	0	LTBP2	74065118	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.853000	0.75435	2.326000	0.78906	0.533000	0.62120	TAC		0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		C	74995365	T	C	74995365	3	2	60	1	0	0	0	0	1	0	0	0	9074	1638	57	2	3376	2	LTBP2	14	74995365	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	17912684	74995365	32354175	50	5994											
AHNAK2	113146	mdanderson.org	37	chr14	105412347	105412347	+	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	ccgaacgacggcatcttgaaCttgggcattttgaacttgct	9	12	10	10	3	1	2	0	2	1	0	1	4	1	2	1	2	4	3	1	2	3	5	rs55842266	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:105412347C>T	ENST00000333244.5	-	7	9560	c.9441G>A	c.(9439-9441)aaG>aaA	p.K3147K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3147						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)			GCATCTTGAACTTGGGCATTT	0.602													.|||	305	0.0609026	0.0106	0.0778	5008	,	,		16789	0.0109		0.1491	False		,,,				2504	0.0777					.											0													199	143	161					14																	105412347		1924	4066	5990	SO:0001819	synonymous_variant	113146			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.9441G>A	14.37:g.105412347C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412347	C	T	105412347	2	4	60	1	0	0	0	0	0	0	0	1	415	564	20	4		4	AHNAK2	14	105412347	Silent	SNP	C	TCGA-KO-8410-01A-11D-2310-10	30416982	105412347	1937193	51	5995											
ATP10A	57194	bcgsc.ca	37	chr15	25928591	25928591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcatggtagatgcagagaAgccacagaaaaactggaacc	18	5	10	8	0	1	3	1	0	0	3	1	5	1	4	2	2	4	2	2	2	6	1			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:25928591A>G	ENST00000356865.6	-	17	3445	c.3334T>C	c.(3334-3336)Ttc>Ctc	p.F1112L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1112					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATGCAGAGAAGCCACAGAAA	0.488																																						.											0													77	75	76					15																	25928591		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3334T>C	15.37:g.25928591A>G	ENSP00000349325:p.Phe1112Leu		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	33	5.246143	0.95272	.	.	ENSG00000206190	ENST00000356865	T	0.72394	-0.65	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91319	0.5080	10	0.87932	D	0	-32.2913	14.3699	0.66833	1.0:0.0:0.0:0.0	.	1112	O60312	AT10A_HUMAN	L	1112	ENSP00000349325:F1112L	ENSP00000349325:F1112L	F	-	1	0	ATP10A	23479684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.963000	0.93385	1.790000	0.52503	0.533000	0.62120	TTC		0.488	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		G	25928591	A	G	25928591	3	3	60	1	0	0	0	0	1	0	0	0	1116	72	3	2	1185	2	ATP10A	15	25928591	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10		25928591	76602801	52	5996											
GOLGA8B	440270	ucsc.edu	37	chr15	34819940	34819940	+	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	catctcaccaaggagctgcaGgactggctgtgcagtagggt	9	8	14	10	0	1	0	1	0	1	0	2	2	1	2	1	4	3	5	1	4	2	1	rs2615360	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:34819940G>C	ENST00000342314.5	-	16	1802	c.1705C>G	c.(1705-1707)Ctg>Gtg	p.L569V	MIR1233-2_ENST00000408138.1_RNA|GOLGA8B_ENST00000267731.7_Missense_Mutation_p.L569V|GOLGA8A_ENST00000543376.1_Intron|GOLGA8B_ENST00000438958.2_Missense_Mutation_p.L599V	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	569	Golgi-targeting domain.			L -> V (in Ref. 1; AAF40308 and 2; AAF34136). {ECO:0000305}.		Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGGAGCTGCAGGACTGGCTGT	0.592													c|||	687	0.137181	0.2027	0.1902	5008	,	,		7607	0.0734		0.1143	False		,,,				2504	0.1002					.											0													36	45	42					15																	34819940		1316	3386	4702	SO:0001583	missense	440270			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"golgi autoantigen, golgin subfamily a, 8B"				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.1705C>G	15.37:g.34819940G>C	ENSP00000343064:p.Leu569Val		A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	ENST00000342314.5	37	CCDS45211.1	236	0.10805860805860806	65	0.13211382113821138	36	0.09944751381215469	59	0.10314685314685315	76	0.10026385224274406	N	0.004	-2.348606	0.00219	.	.	ENSG00000215252	ENST00000342314;ENST00000267731;ENST00000438958;ENST00000268079	T;T;T	0.24538	1.85;1.85;1.85	1.48	-1.31	0.09230	.	.	.	.	.	T	0.00073	0.0002	N	0.01515	-0.825	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25847	-1.0120	8	0.02654	T	1	.	3.4826	0.07607	0.0:0.1792:0.225:0.5958	.	425;569	B7ZMK6;A8MQT2	.;GOG8B_HUMAN	V	569;569;599;460	ENSP00000343064:L569V;ENSP00000267731:L569V;ENSP00000400063:L599V	ENSP00000267731:L569V	L	-	1	2	GOLGA8B	32607232	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	1.699000	0.37804	-0.989000	0.03485	-3.440000	0.00036	CTG		0.592	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251739.2	NM_001023567		C	34819940	G	C	34819940	3	2	60	1	0	0	0	0	1	0	0	0	6564	991	35	5	110	5	GOLGA8B	15	34819940	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	8891349	34819940	67711452	53	5997											
GOLGA6D	653643	mdanderson.org	37	chr15	75586737	75586737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagcctgcaccaggagTggccagggagggttctcccc	6	6	16	13	1	1	0	0	0	1	0	2	3	1	3	5	5	2	2	5	5	0	1	rs200428716		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:75586737T>C	ENST00000434739.3	+	18	2044	c.2003T>C	c.(2002-2004)gTg>gCg	p.V668A	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	668						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GCACCAGGAGTGGCCAGGGAG	0.607																																						.											0													41	50	47					15																	75586737		642	1582	2224	SO:0001583	missense	653643				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.2003T>C	15.37:g.75586737T>C	ENSP00000391085:p.Val668Ala			Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	24	0.01098901098901099	9	0.018292682926829267	7	0.019337016574585635	7	0.012237762237762238	1	0.0013192612137203166	C	2.514	-0.312259	0.05422	.	.	ENSG00000140478	ENST00000434739	T	0.20881	2.04	1.38	-2.75	0.05914	.	.	.	.	.	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	9	0.23302	T	0.38	.	1.0217	0.01519	0.2442:0.4003:0.1596:0.1958	.	668	P0CG33	GOG6D_HUMAN	A	668	ENSP00000391085:V668A	ENSP00000391085:V668A	V	+	2	0	GOLGA6D	73373790	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.128000	0.03247	-2.830000	0.00339	-3.450000	0.00036	GTG		0.607	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		C	75586737	T	C	75586737	3	2	60	1	0	0	0	0	1	0	0	0	6560	1696	59	2	2073	2	GOLGA6D	15	75586737	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	40766797	75586737	26944655	54	5998											
ADAMTS7	11173	mdanderson.org	37	chr15	79058378	79058378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctatgggaggaggaaggAgagaagccaccccaacagtg	13	3	17	8	0	0	1	0	0	0	1	0	6	0	5	3	5	2	1	3	5	4	1	rs201462332		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:79058378A>G	ENST00000388820.4	-	19	4085	c.3875T>C	c.(3874-3876)cTc>cCc	p.L1292P	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1292					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGAGGAAGGAGAGAAGCCAC	0.647																																						.											0													16	17	17					15																	79058378		2120	4172	6292	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3875T>C	15.37:g.79058378A>G	ENSP00000373472:p.Leu1292Pro		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	a	2.158	-0.392791	0.04899	.	.	ENSG00000136378	ENST00000388820	T	0.59224	0.28	3.75	-1.46	0.08800	.	0.736535	0.11836	N	0.524771	T	0.26376	0.0644	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.17832	T	0.49	.	7.6255	0.28210	0.4543:0.0:0.5457:0.0	.	1292	Q9UKP4	ATS7_HUMAN	P	1292	ENSP00000373472:L1292P	ENSP00000373472:L1292P	L	-	2	0	ADAMTS7	76845433	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.278000	0.08490	-0.638000	0.05509	-1.242000	0.01536	CTC		0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		G	79058378	A	G	79058378	3	3	60	1	0	0	0	0	1	0	0	0	271	304	11	2	1209	2	ADAMTS7	15	79058378	Missense_Mutation	SNP	A	TCGA-KO-8410-01A-11D-2310-10	3471641	79058378	23473014	55	5999											
RHOT2	89941	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr16	721884	721884	+	Missense_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	gcgacggcgccctctcgcccGtggagctgcaaagccttttc	5	8	12	16	5	1	0	0	0	1	0	3	2	1	1	3	2	3	2	3	2	1	2	rs367726747		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:721884G>T	ENST00000315082.4	+	13	1093	c.979G>T	c.(979-981)Gtg>Ttg	p.V327L		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	327	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCTCTCGCCCGTGGAGCTGCA	0.711																																						.											0													51	64	60					16																	721884		2199	4296	6495	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.979G>T	16.37:g.721884G>T	ENSP00000321971:p.Val327Leu		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638715	0.29157	.	.	ENSG00000140983	ENST00000315082	T	0.09163	3.01	5.44	-4.54	0.03452	EF-hand-like domain (1);	1.491620	0.03357	N	0.197119	T	0.06234	0.0161	N	0.17474	0.49	0.09310	N	1	B	0.24721	0.11	B	0.24155	0.051	T	0.35649	-0.9780	10	0.30078	T	0.28	-10.8831	5.2347	0.15441	0.2999:0.0:0.3028:0.3973	.	327	Q8IXI1	MIRO2_HUMAN	L	327	ENSP00000321971:V327L	ENSP00000321971:V327L	V	+	1	0	RHOT2	661885	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.054000	0.03496	-0.571000	0.06014	-1.423000	0.01107	GTG		0.711	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		T	721884	G	T	721884	3	4	60	1	0	0	0	0	1	0	0	0	13344	1145	40	5	1029	5	RHOT2	16	721884	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10		721884	89632869	56	6000											
TPSB2	64499	mdanderson.org	37	chr16	1279704	1279704	+	RNA	SNP	A	A	G																															ctgggggcctcctgacccccAacgatgcccactcgctgcag																								rs202107419	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279704A>G	ENST00000339687.6	-	0	118				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCTGACCCCCAACGATGCCCA	0.697																																						.											0													30	38	35					16																	1279704		2182	4298	6480			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279704A>G			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Silent	SNP	ENST00000339687.6	37																																																																																					0.697	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		G	1279704	A	G	1279704	1	3	60	0	1	0	0	0	0	0	0	0	16421	117	5	4		4	TPSB2	16	1279704	RNA	SNP	A	TCGA-KO-8410-01A-11D-2310-10	557820	1279704	89075049	57	6001	160	4									
TPSB2	64499	mdanderson.org	37	chr16	1279710	1279710	+	RNA	SNP	G	G	A																															gcctcctgacccccaacgatGcccactcgctgcagggcctg																								rs200630968	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279710G>A	ENST00000339687.6	-	0	112				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCCCAACGATGCCCACTCGCT	0.706																																						.											0													27	34	32					16																	1279710		2182	4297	6479			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279710G>A			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Silent	SNP	ENST00000339687.6	37																																																																																					0.706	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		A	1279710	G	A	1279710	1	1	60	0	1	0	0	0	0	0	0	0	16421	1306	46	4		4	TPSB2	16	1279710	RNA	SNP	G	TCGA-KO-8410-01A-11D-2310-10	6	1279710	89075043	58	6002	160	4									
TPSB2	64499	mdanderson.org	37	chr16	1279714	1279714	+	RNA	SNP	A	A	G																															cctgacccccaacgatgcccActcgctgcagggcctggcct																								rs192643610	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279714A>G	ENST00000339687.6	-	0	108				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AACGATGCCCACTCGCTGCAG	0.711																																						.											0													25	32	29					16																	1279714		2180	4295	6475			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279714A>G			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		171	0.0782967032967033	39	0.07926829268292683	28	0.07734806629834254	44	0.07692307692307693	60	0.079155672823219	a	8.603	0.887339	0.17540	.	.	ENSG00000197253	ENST00000430512	T	0.81078	-1.45	4.02	-8.04	0.01110	.	1.382050	0.04868	N	0.445430	T	0.05090	0.0136	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	9	0.07644	T	0.81	.	3.7543	0.08579	0.5801:0.1008:0.1165:0.2027	.	29	P20231	TRYB2_HUMAN	A	29	ENSP00000412409:V29A	ENSP00000412409:V29A	V	-	2	0	TPSB2	1219715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.520000	0.00221	-2.364000	0.00607	-1.306000	0.01317	GTG		0.711	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		G	1279714	A	G	1279714	1	3	60	0	1	0	0	0	0	0	0	0	16421	159	6	2		2	TPSB2	16	1279714	RNA	SNP	A	TCGA-KO-8410-01A-11D-2310-10	4	1279714	89075039	59	6003	160	4									
TPSB2	64499	mdanderson.org	37	chr16	1279717	1279717	+	RNA	SNP	C	C	T																															gacccccaacgatgcccactCgctgcagggcctggcctggg																								rs201728868	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279717C>T	ENST00000339687.6	-	0	105				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GATGCCCACTCGCTGCAGGGC	0.711																																						.											0													23	30	28					16																	1279717		2181	4295	6476			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279717C>T			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		.	.	.	.	.	.	.	.	.	.	C	9.729	1.161875	0.21538	.	.	ENSG00000197253	ENST00000430512	T	0.81078	-1.45	4.02	0.801	0.18679	.	0.365821	0.20030	N	0.100730	T	0.56920	0.2018	.	.	.	0.09310	N	1	B	0.25351	0.124	B	0.17722	0.019	T	0.35051	-0.9804	9	0.13108	T	0.6	.	3.9752	0.09472	0.1906:0.5843:0.0:0.225	.	28	P20231	TRYB2_HUMAN	Q	28	ENSP00000412409:R28Q	ENSP00000412409:R28Q	R	-	2	0	TPSB2	1219718	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.308000	0.08156	0.286000	0.22352	0.462000	0.41574	CGA		0.711	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		T	1279717	C	T	1279717	1	4	60	0	1	0	0	0	0	0	0	0	16421	884	31	1		1	TPSB2	16	1279717	RNA	SNP	C	TCGA-KO-8410-01A-11D-2310-10	3	1279717	89075036	60	6004	160	4									
ZNF668	79759	ucsc.edu	37	chr16	31072996	31072996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggcacacccgcggccTcactgcttcgatgggtccgc	5	6	14	16	4	1	0	1	0	0	0	3	1	2	0	3	4	1	2	3	4	0	1			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:31072996T>C	ENST00000538906.1	-	3	2037	c.1253A>G	c.(1252-1254)gAg>gGg	p.E418G	ZNF668_ENST00000535577.1_Missense_Mutation_p.E418G|ZNF668_ENST00000426488.2_Missense_Mutation_p.E441G|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.E418G|ZNF668_ENST00000539836.3_Missense_Mutation_p.E441G|ZNF668_ENST00000394983.2_Missense_Mutation_p.E418G|ZNF668_ENST00000417110.2_Missense_Mutation_p.S62P	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	418					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						ACCCGCGGCCTCACTGCTTCG	0.682																																					Colon(181;1111 1980 5060 10512 25785)	.											0													64	71	68					16																	31072996		2197	4300	6497	SO:0001583	missense	79759				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.1253A>G	16.37:g.31072996T>C	ENSP00000440149:p.Glu418Gly		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.15|13.15	2.150724|2.150724	0.37923|0.37923	.|.	.|.	ENSG00000167394|ENSG00000232748	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849|ENST00000417110	T;T;T;T;T|.	0.08282|.	3.11;3.11;3.11;3.11;3.11|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Zinc finger, C2H2 (1);|.	0.349788|.	0.28465|.	N|.	0.015244|.	T|T	0.39860|0.39860	0.1094|0.1094	N|N	0.08118|0.08118	0|0	0.39968|0.39968	D|D	0.974752|0.974752	B|.	0.29716|.	0.255|.	B|.	0.23852|.	0.049|.	T|T	0.50508|0.50508	-0.8820|-0.8820	10|6	0.72032|0.87932	D|D	0.01|0	-28.8773|-28.8773	10.7371|10.7371	0.46130|0.46130	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	418|.	Q96K58|.	ZN668_HUMAN|.	G|P	441;418;418;418;418|62	ENSP00000442573:E441G;ENSP00000441349:E418G;ENSP00000440149:E418G;ENSP00000378434:E418G;ENSP00000300849:E418G|.	ENSP00000300849:E418G|ENSP00000391989:S62P	E|S	-|+	2|1	0|0	ZNF668|AC135050.1	30980497|30980497	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.698000|0.698000	0.40448|0.40448	-1.098000|-1.098000	0.03346|0.03346	2.048000|2.048000	0.60808|0.60808	0.379000|0.379000	0.24179|0.24179	GAG|TCA		0.682	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		C	31072996	T	C	31072996	3	2	60	1	0	0	0	0	1	0	0	0	18072	1551	54	2	610	2	ZNF668	16	31072996	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	29793279	31072996	59281757	61	6005											
COPS3	8533	ucsc.edu	37	chr17	17184462	17184462	+	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	ttaccttgagctgagagctgTcggacactgttcacgaactg	9	11	11	10	2	1	2	1	2	0	1	2	5	1	3	1	1	4	3	1	1	2	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr17:17184462T>C	ENST00000268717.5	-	1	145	c.39A>G	c.(37-39)cgA>cgG	p.R13R	COPS3_ENST00000539941.2_5'Flank|COPS3_ENST00000439936.2_5'Flank	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	13					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTGAGAGCTGTCGGACACTGT	0.692																																						.											0													38	36	37					17																	17184462		2201	4299	6500	SO:0001819	synonymous_variant	8533			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3", "COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.39A>G	17.37:g.17184462T>C			B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000268717.5	37	CCDS11183.1																																																																																				0.692	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			C	17184462	T	C	17184462	2	2	60	1	0	0	0	0	0	0	0	1	3734	1654	58	2		2	COPS3	17	17184462	Silent	SNP	T	TCGA-KO-8410-01A-11D-2310-10		17184462	64010748	62	6006											
MUC16	94025	mdanderson.org	37	chr19	8999414	8999414	+	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	ttgacatagagactgtccctGtccagggtgtaggggcccag	8	9	14	10	0	0	2	0	1	0	1	2	3	2	2	3	3	0	1	3	3	2	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:8999414G>A	ENST00000397910.4	-	56	40964	c.40761C>T	c.(40759-40761)gaC>gaT	p.D13587D	MUC16_ENST00000380951.5_Silent_p.D228D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13589	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTCCCTGTCCAGGGTGT	0.577																																						.											0													246	205	218					19																	8999414		2073	4216	6289	SO:0001819	synonymous_variant	94025			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.40761C>T	19.37:g.8999414G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.942	-0.218576	0.06101	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.48	2.44	0.29823	.	.	.	.	.	T	0.39200	0.1069	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45056	-0.9287	3	.	.	.	.	6.0455	0.19758	0.1431:0.0:0.8569:0.0	.	.	.	.	I	427	.	.	T	-	2	0	MUC16	8860414	0.000000	0.05858	0.844000	0.33320	0.437000	0.31866	-0.585000	0.05794	1.967000	0.57214	0.555000	0.69702	ACA		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8999414	G	A	8999414	2	1	60	1	0	0	0	0	0	0	0	1	9973	1368	48	4		4	MUC16	19	8999414	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10		8999414	50129569	63	6007											
ZNF575	284346	ucsc.edu	37	chr19	44039421	44039421	+	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	ctcctacccctccaagctggCagcccaccgcctcacgcaca	8	5	6	22	2	1	0	1	0	0	0	3	0	3	0	7	1	3	3	7	1	2	1			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44039421C>T	ENST00000314228.5	+	4	832	c.320C>T	c.(319-321)gCa>gTa	p.A107V	ZNF575_ENST00000601282.1_Missense_Mutation_p.A107V|ZNF575_ENST00000458714.2_Missense_Mutation_p.A206V	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				TCCAAGCTGGCAGCCCACCGC	0.706																																						.											0													32	29	30					19																	44039421		2203	4298	6501	SO:0001583	missense	284346			BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"Zinc fingers, C2H2-type"	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.320C>T	19.37:g.44039421C>T	ENSP00000315870:p.Ala107Val		B4DX54	Missense_Mutation	SNP	ENST00000314228.5	37	CCDS12623.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204548	0.58234	.	.	ENSG00000176472	ENST00000458714;ENST00000314228	T;T	0.16897	2.31;2.31	4.28	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000534	T	0.18215	0.0437	N	0.16066	0.365	0.20074	N	0.999934	P;D	0.57257	0.901;0.979	P;P	0.58391	0.702;0.838	T	0.07462	-1.0771	10	0.33141	T	0.24	-9.5726	10.7008	0.45926	0.0:0.8056:0.1944:0.0	.	107;206	Q86XF7;B3KQ07	ZN575_HUMAN;.	V	206;107	ENSP00000413956:A206V;ENSP00000315870:A107V	ENSP00000315870:A107V	A	+	2	0	ZNF575	48731261	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	-0.915000	0.04033	2.119000	0.64992	0.650000	0.86243	GCA		0.706	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463191.1	NM_174945		T	44039421	C	T	44039421	3	4	60	1	0	0	0	0	1	0	0	0	18004	710	25	4	326	4	ZNF575	19	44039421	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	35040007	44039421	15089562	64	6008											
ZNF224	7767	broad.mit.edu	37	chr19	44611929	44611929	+	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	ggtccacacaggagagagacCatacaattgtaaggaatgtg	15	7	12	7	0	0	2	0	0	0	2	1	5	1	3	2	3	1	1	2	3	4	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44611929C>T	ENST00000336976.6	+	6	1870	c.1616C>T	c.(1615-1617)cCa>cTa	p.P539L	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	539					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)				GGAGAGAGACCATACAATTGT	0.428																																						.											0													104	98	100					19																	44611929		2203	4300	6503	SO:0001583	missense	7767			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.1616C>T	19.37:g.44611929C>T	ENSP00000337368:p.Pro539Leu		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.08	3.021545	0.54576	.	.	ENSG00000186019	ENST00000336976	T	0.27557	1.66	2.69	2.69	0.31865	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35537	0.0935	M	0.73372	2.23	0.24003	N	0.996201	P	0.40302	0.712	B	0.39562	0.303	T	0.31052	-0.9957	9	0.87932	D	0	.	12.522	0.56065	0.0:1.0:0.0:0.0	.	539	Q9NZL3	ZN224_HUMAN	L	539	ENSP00000337368:P539L	ENSP00000337368:P539L	P	+	2	0	ZNF224	49303769	0.011000	0.17503	0.121000	0.21740	0.329000	0.28539	1.539000	0.36104	1.496000	0.48567	0.591000	0.81541	CCA		0.428	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		T	44611929	C	T	44611929	3	4	60	1	0	0	0	0	1	0	0	0	17775	594	21	4	1630	4	ZNF224	19	44611929	Missense_Mutation	SNP	C	TCGA-KO-8410-01A-11D-2310-10	572508	44611929	14517054	65	6009											
ZNF285	26974	mdanderson.org	37	chr19	44891010	44891010	+	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	tgtgaagaacagagctatacGcaaaatcctttccacacaca	16	8	6	11	1	0	3	0	1	0	2	2	3	2	3	2	0	3	2	2	0	6	3	rs150792548	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44891010G>C	ENST00000330997.4	-	4	1461	c.1397C>G	c.(1396-1398)gCg>gGg	p.A466G	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.A466G|ZNF285_ENST00000591679.1_Missense_Mutation_p.A473G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A466G(1)		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						AGAGCTATACGCAAAATCCTT	0.418																																						.											1	Substitution - Missense(1)	skin(1)											83	84	83					19																	44891010		2203	4300	6503	SO:0001583	missense	26974			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.1397C>G	19.37:g.44891010G>C	ENSP00000333595:p.Ala466Gly		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010205	0.19277	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.08008	3.14	3.46	0.829	0.18847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.45744	1.44	0.09310	N	1	B;B	0.34399	0.452;0.0	B;B	0.36666	0.23;0.001	T	0.29488	-1.0010	9	0.56958	D	0.05	.	6.4144	0.21708	0.1094:0.3586:0.532:0.0	.	490;466	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	489;466	ENSP00000333595:A466G	ENSP00000333595:A466G	A	-	2	0	ZNF285	49582850	0.000000	0.05858	0.002000	0.10522	0.860000	0.49131	-6.159000	0.00078	0.511000	0.28236	0.298000	0.19748	GCG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		C	44891010	G	C	44891010	3	2	60	1	0	0	0	0	1	0	0	0	17819	1087	38	5	379	5	ZNF285	19	44891010	Missense_Mutation	SNP	G	TCGA-KO-8410-01A-11D-2310-10	279081	44891010	14237973	66	6010											
VN1R4	317703	mdanderson.org	37	chr19	53770838	53770838	+	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	cagtaaaaggagagataatgGagaagaacagagaagctccc	19	4	12	6	0	0	4	0	0	0	4	1	8	1	5	1	2	2	2	1	2	6	2	rs201450916	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:53770838G>A	ENST00000311170.4	-	1	134	c.81C>T	c.(79-81)ctC>ctT	p.L27L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	27					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGAGATAATGGAGAAGAACAG	0.493										HNSCC(26;0.072)			G|||	13	0.00259585	0	0	5008	,	,		19592	0.0129		0	False		,,,				2504	0					.											0													56	61	59					19																	53770838		2203	4300	6503	SO:0001819	synonymous_variant	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.81C>T	19.37:g.53770838G>A			Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	CCDS33099.1																																																																																				0.493	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		A	53770838	G	A	53770838	2	1	60	1	0	0	0	0	0	0	0	1	17177	1161	41	3		3	VN1R4	19	53770838	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	8879828	53770838	5358145	67	6011											
C20orf152	140894	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr20	34611599	34611599	+	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	tgatgagcctgggaaatgagTtgatacggataaggaaggaa	15	8	15	3	1	0	4	0	4	0	0	0	8	0	8	1	4	2	1	1	4	5	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr20:34611599T>A	ENST00000373973.3	+	11	1518	c.1345T>A	c.(1345-1347)Ttg>Atg	p.L449M	CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Missense_Mutation_p.L445M			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	449																	GGGAAATGAGTTGATACGGAT	0.438																																						.											0													116	113	114					20																	34611599		2203	4300	6503	SO:0001583	missense	140894			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.1345T>A	20.37:g.34611599T>A	ENSP00000363084:p.Leu449Met		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	T	5.565	0.289134	0.10513	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.55760	0.5;0.5	4.83	-2.93	0.05598	.	0.416111	0.21671	N	0.070873	T	0.22437	0.0541	N	0.03608	-0.345	0.80722	D	1	B	0.15473	0.013	B	0.18561	0.022	T	0.01266	-1.1401	10	0.46703	T	0.11	-6.2142	6.1413	0.20261	0.1648:0.0:0.2538:0.5814	.	445	Q96M20-2	.	M	449;445	ENSP00000363084:L449M;ENSP00000340954:L445M	ENSP00000340954:L445M	L	+	1	2	C20orf152	34075013	0.188000	0.23250	0.913000	0.36048	0.023000	0.10783	-1.726000	0.01861	-0.599000	0.05798	-2.316000	0.00254	TTG		0.438	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		A	34611599	T	A	34611599	3	1	60	1	0	0	0	0	1	0	0	0	2092	1722	60	5	1375	5	C20orf152	20	34611599	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10		34611599	28413921	68	6012											
SERINC3	10955	broad.mit.edu;mdanderson.org	37	chr20	43129733	43129733	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaccagctggtcagggTcatcatgatgtacaaggaag	11	9	12	9	0	3	1	3	1	0	0	3	2	3	2	2	3	3	3	2	3	4	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr20:43129733T>C	ENST00000342374.4	-	9	1421	c.1264A>G	c.(1264-1266)Acc>Gcc	p.T422A	SERINC3_ENST00000255175.1_Missense_Mutation_p.T422A|SERINC3_ENST00000541235.1_Missense_Mutation_p.T367A	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	422					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)			CTGGTCAGGGTCATCATGATG	0.493																																						.											0													115	105	109					20																	43129733		2203	4300	6503	SO:0001583	missense	10955			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.1264A>G	20.37:g.43129733T>C	ENSP00000340243:p.Thr422Ala		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995964	0.74703	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.3	4.2	0.49525	.	0.044662	0.85682	D	0.000000	T	0.48132	0.1483	M	0.93808	3.46	0.80722	D	1	B;P	0.48834	0.291;0.916	P;D	0.64237	0.491;0.923	T	0.55496	-0.8132	10	0.52906	T	0.07	-20.6231	10.9707	0.47438	0.0:0.0729:0.0:0.9271	.	422;422	Q53GK8;Q13530	.;SERC3_HUMAN	A	161;422;422;389;367	ENSP00000414197:T161A;ENSP00000255175:T422A;ENSP00000340243:T422A;ENSP00000440966:T367A	ENSP00000255175:T422A	T	-	1	0	SERINC3	42563147	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.746000	0.85057	1.038000	0.40049	0.460000	0.39030	ACC		0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		C	43129733	T	C	43129733	3	2	60	1	0	0	0	0	1	0	0	0	14081	1667	58	2	165	2	SERINC3	20	43129733	Missense_Mutation	SNP	T	TCGA-KO-8410-01A-11D-2310-10	8518134	43129733	19895787	69	6013											
DSCAM	1826	broad.mit.edu;mdanderson.org	37	chr21	41384994	41384994	+	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	taagattttgcgtaaggattGtttcctttcaaatggccccg	9	15	9	8	2	1	1	1	0	0	1	2	2	2	2	3	2	1	2	3	2	3	7			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr21:41384994G>A	ENST00000400454.1	-	33	6483	c.6006C>T	c.(6004-6006)aaC>aaT	p.N2002N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2002				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	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)				CGTAAGGATTGTTTCCTTTCA	0.463																																					Melanoma(134;970 1778 1785 21664 32388)	.											0													66	65	66					21																	41384994		1892	4127	6019	SO:0001819	synonymous_variant	1826			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.6006C>T	21.37:g.41384994G>A			O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41384994	G	A	41384994	2	1	60	1	0	0	0	0	0	0	0	1	4768	1368	48	4		4	DSCAM	21	41384994	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10		41384994	6744901	70	6014											
MTMR3	8897	ucsc.edu	37	chr22	30418651	30418651	+	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	cactgctatgcgtgcgacagTgccttctggcttgccagcag	6	10	12	13	2	1	0	0	0	1	0	1	1	1	0	2	1	6	3	2	1	1	3			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr22:30418651T>C	ENST00000401950.2	+	19	3732	c.3390T>C	c.(3388-3390)agT>agC	p.S1130S	MTMR3_ENST00000333027.3_Silent_p.S1093S|MTMR3_ENST00000406629.1_Silent_p.S1093S|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.S994S|MTMR3_ENST00000351488.3_Silent_p.S1093S	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1130					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)			CGTGCGACAGTGCCTTCTGGC	0.607																																						.											0													77	58	65					22																	30418651		2203	4300	6503	SO:0001819	synonymous_variant	8897			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.3390T>C	22.37:g.30418651T>C			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.607	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		C	30418651	T	C	30418651	2	2	60	1	0	0	0	0	0	0	0	1	9945	1693	59	2		2	MTMR3	22	30418651	Silent	SNP	T	TCGA-KO-8410-01A-11D-2310-10		30418651	20885915	71	6015											
BRWD3	254065	broad.mit.edu	37	chrX	79989615	79989615	+	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	accgtttctgattttctcttAccgtatgtgactctaattca	8	18	5	10	2	4	2	1	2	3	0	5	2	4	2	2	0	1	2	2	0	3	7			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:79989615A>G	ENST00000373275.4	-	11	1303		c.e11+1			NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3						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						ATTTTCTCTTACCGTATGTGA	0.333																																						.											0													110	100	103					X																	79989615		2203	4296	6499	SO:0001630	splice_region_variant	254065				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.1086+1T>C	X.37:g.79989615A>G			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Splice_Site	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707187	0.68615	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2102	0.65759	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRWD3	79876271	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.672000	0.91181	1.932000	0.55993	0.441000	0.28932	.		0.333	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Intron	G	79989615	A	G	79989615	5	3	60	1	0	0	0	0	0	0	1	0	1526	405	14	2	4444	2	BRWD3	23	79989615	Splice_Site	SNP	A	TCGA-KO-8410-01A-11D-2310-10		79989615	75280945	72	6016											
CXorf48	54967	broad.mit.edu;mdanderson.org	37	chrX	134294442	134294442	+	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	actctggttcctgagtctgaGggtccagcaccataaagatg	10	10	11	10	0	2	3	0	2	2	1	4	3	4	3	3	2	1	2	3	2	2	2			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:134294442G>A	ENST00000276241.6	-	3	544	c.318C>T	c.(316-318)ccC>ccT	p.P106P	CXorf48_ENST00000344129.2_Silent_p.P106P	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					CTGAGTCTGAGGGTCCAGCAC	0.328																																						.											0													38	36	37					X																	134294442		2203	4298	6501	SO:0001819	synonymous_variant	54967																														ENST00000276241.6:c.318C>T	X.37:g.134294442G>A			Q9NWY8	Silent	SNP	ENST00000276241.6	37	CCDS35400.1																																																																																				0.328	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			A	134294442	G	A	134294442	2	1	60	1	0	0	0	0	0	0	0	1	4111	987	35	4		4	CXorf48	23	134294442	Silent	SNP	G	TCGA-KO-8410-01A-11D-2310-10	54304827	134294442	20976118	73	6017											
BRCC3	79184	broad.mit.edu	37	chrX	154344462	154344462	+	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	atgcgtataggaggatccacAggtagagaccctcttcactc	11	9	10	11	1	2	1	1	0	1	1	4	4	3	3	2	3	1	2	2	3	3	4			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:154344462A>T	ENST00000369462.1	+	9	779	c.754A>T	c.(754-756)Agc>Tgc	p.S252C	BRCC3_ENST00000340647.4_Splice_Site_p.S228C|BRCC3_ENST00000399042.1_Splice_Site_p.S252C|BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000330045.7_Splice_Site_p.S227C|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	252					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)					GAGGATCCACAGGTAGAGACc	0.502																																						.											0													73	64	67					X																	154344462		1981	4142	6123	SO:0001630	splice_region_variant	79184			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.755+1A>T	X.37:g.154344462A>T			A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950183	0.73787	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369462;ENST00000399042	T;T;T;T	0.47869	0.85;0.85;0.83;0.83	4.57	4.57	0.56435	.	0.045370	0.85682	D	0.000000	T	0.49932	0.1586	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.992;0.998	P;P	0.61201	0.794;0.885	T	0.52631	-0.8550	10	0.52906	T	0.07	-10.0279	12.4562	0.55706	1.0:0.0:0.0:0.0	.	227;252	P46736-2;P46736	.;BRCC3_HUMAN	C	228;227;252;252	ENSP00000344103:S228C;ENSP00000328641:S227C;ENSP00000358474:S252C;ENSP00000381998:S252C	ENSP00000328641:S227C	S	+	1	0	BRCC3	153997656	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.698000	0.74608	1.775000	0.52247	0.481000	0.45027	AGC		0.502	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332	Missense_Mutation	T	154344462	A	T	154344462	5	4	60	1	0	0	0	0	0	0	1	0	1500	202	7	5	788	5	BRCC3	23	154344462	Splice_Site	SNP	A	TCGA-KO-8410-01A-11D-2310-10	20050020	154344462	926098	74	6018											
TTC39A	22996	ucsc.edu	37	chr1	51761772	51761772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaataattccacttcgtcgTccccgaacggcttgtggtcc	8	11	9	13	4	0	0	0	0	0	0	5	2	3	0	4	2	1	1	4	2	3	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:51761772T>C	ENST00000447632.2	-	13	1280	c.1232A>G	c.(1231-1233)gAc>gGc	p.D411G	TTC39A_ENST00000451380.1_Missense_Mutation_p.D375G|TTC39A_ENST00000371747.3_Missense_Mutation_p.D410G|TTC39A_ENST00000534098.1_Intron|TTC39A_ENST00000530004.1_Missense_Mutation_p.D19G|TTC39A_ENST00000262675.7_Missense_Mutation_p.D348G|TTC39A_ENST00000413473.2_Missense_Mutation_p.D379G|TTC39A_ENST00000371750.5_Missense_Mutation_p.D376G			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	411								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CACTTCGTCGTCCCCGAACGG	0.592																																						.											2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											56	65	62					1																	51761772		2052	4187	6239	SO:0001583	missense	22996			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1232A>G	1.37:g.51761772T>C	ENSP00000393952:p.Asp411Gly		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37		.	.	.	.	.	.	.	.	.	.	T	23.6	4.437380	0.83885	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906;ENST00000371747	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.09	5.09	0.68999	.	0.045757	0.85682	D	0.000000	T	0.56949	0.2020	M	0.64404	1.975	0.58432	D	0.999994	P;P;P;P;P;P	0.49862	0.523;0.578;0.929;0.929;0.888;0.913	B;B;P;P;P;P	0.51297	0.236;0.348;0.665;0.665;0.484;0.535	T	0.60495	-0.7252	10	0.52906	T	0.07	-12.7519	14.8601	0.70376	0.0:0.0:0.0:1.0	.	379;375;348;375;411;376	Q5SRH9-4;E7EQY9;D3DQ30;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;TT39A_HUMAN;.	G	19;411;379;348;375;376;19;410	ENSP00000431228:D19G;ENSP00000393952:D411G;ENSP00000406144:D379G;ENSP00000262675:D348G;ENSP00000397207:D375G;ENSP00000360815:D376G;ENSP00000436659:D19G;ENSP00000360812:D410G	ENSP00000262675:D348G	D	-	2	0	TTC39A	51534360	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.601000	0.82783	1.899000	0.54978	0.460000	0.39030	GAC		0.592	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			C	51761772	T	C	51761772	3	2	61	1	0	0	0	0	1	0	0	0	16704	1667	58	2	633	2	TTC39A	1	51761772	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10		51761772	197488849	1	6019											
USP24	23358	ucsc.edu	37	chr1	55595207	55595207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggcacagcttctggccAtgtcatcatcagctgttggc	7	13	10	11	0	4	0	3	0	1	0	4	0	4	0	1	3	2	4	1	3	0	3			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:55595207A>G	ENST00000294383.6	-	32	3577	c.3578T>C	c.(3577-3579)aTg>aCg	p.M1193T	USP24_ENST00000407756.1_Missense_Mutation_p.M1033T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1193					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCTTCTGGCCATGTCATCATC	0.408																																						.											0													97	96	96					1																	55595207		1909	4128	6037	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3578T>C	1.37:g.55595207A>G	ENSP00000294383:p.Met1193Thr		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	4.152	0.026554	0.08054	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02197	4.4;4.42	5.78	4.64	0.57946	.	0.071934	0.85682	D	0.000000	T	0.01765	0.0056	N	0.14661	0.345	0.54753	D	0.999983	B	0.14438	0.01	B	0.13407	0.009	T	0.53844	-0.8381	10	0.12766	T	0.61	.	13.075	0.59081	0.8658:0.1342:0.0:0.0	.	1033	B7WPF4	.	T	1193;1033	ENSP00000294383:M1193T;ENSP00000385700:M1033T	ENSP00000294383:M1193T	M	-	2	0	USP24	55367795	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	0.988000	0.38734	0.482000	0.46254	ATG		0.408	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			G	55595207	A	G	55595207	3	3	61	1	0	0	0	0	1	0	0	0	17052	217	8	4	4432	4	USP24	1	55595207	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	3833435	55595207	193655414	2	6020											
WLS	79971	hgsc.bcm.edu;mdanderson.org	37	chr1	68697908	68697908	+	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	cccaccagaaaggcgatgatTtggaacacgagcagaatccc	14	5	10	12	2	0	3	0	1	0	2	1	6	1	4	3	2	2	1	3	2	3	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:68697908T>C	ENST00000262348.4	-	1	328	c.75A>G	c.(73-75)caA>caG	p.Q25Q	WLS_ENST00000370976.3_Silent_p.Q25Q|WLS_ENST00000370971.1_Silent_p.Q25Q|WLS_ENST00000354777.2_Silent_p.Q25Q|WLS_ENST00000540432.1_Silent_p.Q25Q	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	25					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AGGCGATGATTTGGAACACGA	0.498																																						.											0													174	160	165					1																	68697908		2203	4300	6503	SO:0001819	synonymous_variant	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.75A>G	1.37:g.68697908T>C			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	CCDS642.1	.	.	.	.	.	.	.	.	.	.	t	8.540	0.873082	0.17322	.	.	ENSG00000116729	ENST00000534713	.	.	.	4.72	-2.39	0.06602	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31724	-0.9933	4	.	.	.	-17.2091	5.2658	0.15597	0.1197:0.2776:0.0:0.6027	.	.	.	.	R	19	.	.	K	-	2	0	WLS	68470496	0.998000	0.40836	0.279000	0.24732	0.985000	0.73830	0.381000	0.20619	-0.657000	0.05373	0.249000	0.18162	AAA		0.498	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		C	68697908	T	C	68697908	2	2	61	1	0	0	0	0	0	0	0	1	17373	1838	64	4		4	WLS	1	68697908	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10	13102701	68697908	180552713	3	6021											
WNT2B	7482	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	113058941	113058941	+	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	gcagtgacaacatccactacGgtgtccgttttgccaaggcc	9	9	10	13	2	0	1	0	1	0	0	2	1	2	1	4	2	3	2	4	2	3	3			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:113058941G>A	ENST00000369684.4	+	3	1068	c.583G>A	c.(583-585)Ggt>Agt	p.G195S	WNT2B_ENST00000256640.5_Missense_Mutation_p.G103S|WNT2B_ENST00000478360.1_3'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.G176S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	195					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCCACTACGGTGTCCGTTT	0.572																																						.											0													160	142	148					1																	113058941		2203	4300	6503	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.583G>A	1.37:g.113058941G>A	ENSP00000358698:p.Gly195Ser		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805918	0.96967	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	D;D;D	0.81996	-1.56;-1.56;-1.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.954;0.993	D	0.92181	0.5751	10	0.87932	D	0	.	19.2806	0.94051	0.0:0.0:1.0:0.0	.	195;176	Q93097;Q93097-2	WNT2B_HUMAN;.	S	103;176;195	ENSP00000256640:G103S;ENSP00000358700:G176S;ENSP00000358698:G195S	ENSP00000256640:G103S	G	+	1	0	WNT2B	112860464	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.637000	0.89404	0.561000	0.74099	GGT		0.572	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		A	113058941	G	A	113058941	3	1	61	1	0	0	0	0	1	0	0	0	17384	1116	39	1	726	1	WNT2B	1	113058941	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	44361033	113058941	136191680	4	6022											
SLC27A3	11000	mdanderson.org	37	chr1	153748161	153748161	+	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	cgacccggaaggtcccgaggGgggctgcagcctggcctggc	5	4	18	14	3	0	0	0	0	0	0	1	3	1	1	4	7	2	2	4	7	1	0	rs34527123|rs587776392	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:153748161G>C	ENST00000368661.3	+	1	394	c.329G>C	c.(328-330)gGg>gCg	p.G110A	SLC27A3_ENST00000271857.2_Missense_Mutation_p.G191A|SLC27A3_ENST00000484014.1_Intron	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	110			G -> A (in dbSNP:rs34527123).		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)			GGTCCCGAGGGGGGCTGCAGC	0.711													G|||	51	0.0101837	8e-04	0.0173	5008	,	,		13208	0.001		0.0328	False		,,,				2504	0.0041					.											0								G	ALA/GLY	21,3907		0,21,1943	4	6	5		329	2.8	1	1	dbSNP_126	5	220,7654		2,216,3719	no	missense	SLC27A3	NM_024330.1	60	2,237,5662	CC,CG,GG		2.794,0.5346,2.042	possibly-damaging	110/731	153748161	241,11561	1964	3937	5901	SO:0001583	missense	11000			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.329G>C	1.37:g.153748161G>C	ENSP00000357650:p.Gly110Ala		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	CCDS1053.1	40	0.018315018315018316	3	0.006097560975609756	8	0.022099447513812154	1	0.0017482517482517483	28	0.036939313984168866	G	15.58	2.876242	0.51801	0.005346	0.02794	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.58210	0.35;0.4	3.71	2.78	0.32641	.	0.562171	0.15028	N	0.284627	T	0.13970	0.0338	N	0.14661	0.345	0.19300	N	0.999971	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.25751	T	0.34	-2.2657	8.9582	0.35832	0.0:0.2277:0.7723:0.0	rs34527123	110	Q5K4L6	S27A3_HUMAN	A	191;110	ENSP00000271857:G191A;ENSP00000357650:G110A	ENSP00000271857:G191A	G	+	2	0	SLC27A3	152014785	0.535000	0.26370	0.973000	0.42090	0.938000	0.57974	0.716000	0.25836	0.753000	0.32945	0.462000	0.41574	GGG		0.711	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		C	153748161	G	C	153748161	3	2	61	1	0	0	0	0	1	0	0	0	14527	1232	43	5	331	5	SLC27A3	1	153748161	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	40689220	153748161	95502460	5	6023											
C1orf125	126859	mdanderson.org	37	chr1	179504037	179504037	+	Missense_Mutation	SNP	G	G	C																															gagaagtaaaagaagaagaaGaacaacaagaagaagaagaa																								rs200097954|rs368406759|rs6425573	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:179504037G>C	ENST00000367618.3	+	25	3358	c.2971G>C	c.(2971-2973)Gaa>Caa	p.E991Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(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						agaagaagaagaacaacaaga	0.318													G|||	14	0.00279553	0	0.0058	5008	,	,		17137	0.002		0.004	False		,,,				2504	0.0041					.											1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											49	51	50					1																	179504037		2152	4286	6438	SO:0001583	missense	126859			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.2971G>C	1.37:g.179504037G>C	ENSP00000356590:p.Glu991Gln		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052898	0.19907	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.17	4.89	-6.02	0.02192	.	0.508747	0.16499	N	0.211773	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.10450	0.003;0.005	T	0.15838	-1.0423	10	0.28530	T	0.3	-2.8152	6.1976	0.20557	0.4456:0.3814:0.173:0.0	rs6425573	875;991	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	991;875;851	ENSP00000356590:E991Q;ENSP00000391716:E851Q	ENSP00000353471:E875Q	E	+	1	0	AXDND1	177770660	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.365000	0.20348	-1.164000	0.02790	-1.047000	0.02352	GAA		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		C	179504037	G	C	179504037	3	2	61	1	0	0	0	0	1	0	0	0	1993	943	33	5	3065	5	C1orf125	1	179504037	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	25755876	179504037	69746584	6	6024	161	2									
C1orf125	126859	mdanderson.org	37	chr1	179504040	179504040	+	Missense_Mutation	SNP	C	C	G																															aagtaaaagaagaagaagaaCaacaagaagaagaagaagtc																								rs200097954|rs368406759|rs79330752	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:179504040C>G	ENST00000367618.3	+	25	3361	c.2974C>G	c.(2974-2976)Caa>Gaa	p.Q992E		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	992	Glu-rich.							p.E991_Q992delEQ(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						agaagaagaacaacaagaaga	0.318													c|||	14	0.00279553	0	0.0058	5008	,	,		17397	0.002		0.004	False		,,,				2504	0.0041					.											1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											50	53	52					1																	179504040		2149	4285	6434	SO:0001583	missense	126859			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.2974C>G	1.37:g.179504040C>G	ENSP00000356590:p.Gln992Glu		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.898575	0.00058	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.15256	2.44;2.44	2.01	-1.28	0.09318	.	1.561730	0.04078	N	0.309154	T	0.06554	0.0168	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	0.23904	-1.0175	10	0.02654	T	1	-5.6078	3.1227	0.06397	0.3057:0.2604:0.4339:0.0	.	876;992	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	E	992;876;852	ENSP00000356590:Q992E;ENSP00000391716:Q852E	ENSP00000353471:Q876E	Q	+	1	0	AXDND1	177770663	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.281000	0.08456	-0.358000	0.08162	-4.192000	0.00009	CAA		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		G	179504040	C	G	179504040	3	3	61	1	0	0	0	0	1	0	0	0	1993	479	17	5	3068	5	C1orf125	1	179504040	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	3	179504040	69746581	7	6025	161	2									
HMCN1	83872	broad.mit.edu;bcgsc.ca	37	chr1	185891568	185891568	+	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	gcctcagtactattgatttcCgagctggcttttctcgaaag	8	14	9	10	2	2	1	1	1	1	0	4	3	3	1	2	1	2	3	2	1	3	6			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr1:185891568C>T	ENST00000271588.4	+	7	1187	c.958C>T	c.(958-960)Cga>Tga	p.R320*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R320*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	320					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.R320*(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						TATTGATTTCCGAGCTGGCTT	0.423																																						.											1	Substitution - Nonsense(1)	urinary_tract(1)											75	70	71					1																	185891568		2203	4300	6503	SO:0001587	stop_gained	83872			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.958C>T	1.37:g.185891568C>T	ENSP00000271588:p.Arg320*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	40	8.096734	0.98651	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.43	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0593	0.64790	0.2741:0.7259:0.0:0.0	.	.	.	.	X	320	.	ENSP00000271588:R320X	R	+	1	2	HMCN1	184158191	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.287000	0.33284	1.258000	0.44101	0.655000	0.94253	CGA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185891568	C	T	185891568	4	4	61	1	0	0	0	0	0	1	0	0	7220	644	23	1	984	1	HMCN1	1	185891568	Nonsense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	6387528	185891568	63359053	8	6026											
FAM179A	165186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	29274925	29274925	+	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	ggtggcccctgacagcaagaCaactggcagctcataccctt	10	7	10	14	0	1	2	1	1	0	1	1	2	1	2	3	3	4	3	3	3	3	2			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr2:29274925C>T	ENST00000379558.4	+	20	3377	c.3026C>T	c.(3025-3027)aCa>aTa	p.T1009I	FAM179A_ENST00000403861.2_Missense_Mutation_p.T954I|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	1009										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GACAGCAAGACAACTGGCAGC	0.478																																						.											0													26	28	27					2																	29274925		1907	4123	6030	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.3026C>T	2.37:g.29274925C>T	ENSP00000368876:p.Thr1009Ile		Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096144	0.36952	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.09255	3.14;3.0	5.68	1.84	0.25277	.	1.414210	0.04767	N	0.427403	T	0.10508	0.0257	N	0.22421	0.69	0.09310	N	1	P;P	0.49358	0.923;0.766	P;B	0.46110	0.504;0.243	T	0.21793	-1.0235	10	0.54805	T	0.06	.	4.9181	0.13856	0.1464:0.6259:0.0:0.2277	.	954;1009	F8W8E4;Q6ZUX3	.;F179A_HUMAN	I	1009;954	ENSP00000368876:T1009I;ENSP00000384699:T954I	ENSP00000368876:T1009I	T	+	2	0	FAM179A	29128429	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.022000	0.13511	0.064000	0.16427	0.655000	0.94253	ACA		0.478	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		T	29274925	C	T	29274925	3	4	61	1	0	0	0	0	1	0	0	0	5505	478	17	4	3100	4	FAM179A	2	29274925	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		29274925	213924448	9	6027											
CTDSPL	10217	ucsc.edu;mdanderson.org	37	chr3	38009346	38009346	+	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	aatgctgattttattgttccGgttgaaatcgatggaactat	11	16	9	5	2	0	2	0	2	0	0	2	4	1	3	1	2	2	3	1	2	5	6			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:38009346G>A	ENST00000273179.5	+	5	425	c.399G>A	c.(397-399)ccG>ccA	p.P133P	CTDSPL_ENST00000443503.2_Silent_p.P122P|MIR26A1_ENST00000362205.1_RNA|CTDSPL_ENST00000310189.3_3'UTR	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	133	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TTATTGTTCCGGTTGAAATCG	0.284											OREG0015472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													63	62	62					3																	38009346		2198	4298	6496	SO:0001819	synonymous_variant	10217			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	16890	protein-coding gene	gene with protein product	"small CTD phosphatase 3", "HYA22 protein", "RB protein serine phosphatase from chromosome 3"	608592	"chromosome 3 open reading frame 8"	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.399G>A	3.37:g.38009346G>A		874	Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	ENST00000273179.5	37	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	G	9.235	1.036705	0.19669	.	.	ENSG00000144677	ENST00000416688	.	.	.	5.25	1.09	0.20402	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35351	-0.9792	4	.	.	.	-16.9444	5.6624	0.17676	0.0633:0.1909:0.2146:0.5311	.	.	.	.	S	42	.	.	G	+	1	0	CTDSPL	37984350	0.228000	0.23718	0.996000	0.52242	0.999000	0.98932	-0.451000	0.06795	-0.024000	0.13941	0.655000	0.94253	GGT		0.284	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		A	38009346	G	A	38009346	2	1	61	1	0	0	0	0	0	0	0	1	4005	1103	39	1		1	CTDSPL	3	38009346	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10		38009346	160013084	10	6028											
NKTR	4820	broad.mit.edu	37	chr3	42660605	42660605	+	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	aaactttatgattcagggtgGggacttcagtgaaggtagag	12	11	14	4	0	2	3	2	2	0	1	2	4	2	4	0	4	1	1	0	4	4	5			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:42660605G>A	ENST00000232978.8	+	4	415	c.227G>A	c.(226-228)gGg>gAg	p.G76E	NKTR_ENST00000442970.1_Missense_Mutation_p.G76E|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	76	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATTCAGGGTGGGGACTTCAGT	0.353																																						.											0													135	146	142					3																	42660605		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.227G>A	3.37:g.42660605G>A	ENSP00000232978:p.Gly76Glu			Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710635	0.89112	.	.	ENSG00000114857	ENST00000232978;ENST00000442970;ENST00000445842	T;T;T	0.67865	-0.29;-0.29;-0.29	4.94	4.94	0.65067	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94345	0.7574	10	0.87932	D	0	-16.2248	18.1303	0.89599	0.0:0.0:1.0:0.0	.	76;76	P30414;A8K7K2	NKTR_HUMAN;.	E	76	ENSP00000232978:G76E;ENSP00000390259:G76E;ENSP00000408660:G76E	ENSP00000232978:G76E	G	+	2	0	NKTR	42635609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.460000	0.83146	0.555000	0.69702	GGG		0.353	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		A	42660605	G	A	42660605	3	1	61	1	0	0	0	0	1	0	0	0	10448	1232	43	3	237	3	NKTR	3	42660605	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	4651259	42660605	155361825	11	6029											
BSN	8927	broad.mit.edu	37	chr3	49689196	49689196	+	Frame_Shift_Del	DEL	A	A	-																															cagcatgcggcctttgctgcAggcccagggcctggccccaa																										TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:49689196delA	ENST00000296452.4	+	5	2321	c.2207delA	c.(2206-2208)cagfs	p.Q736fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	736					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)		CCTTTGCTGCAGGCCCAGGGC	0.662																																						.											0													40	41	41					3																	49689196		2203	4300	6503	SO:0001589	frameshift_variant	8927			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.2207delA	3.37:g.49689196delA	ENSP00000296452:p.Gln736fs		O43161|Q7LGH3	Frame_Shift_Del	DEL	ENST00000296452.4	37	CCDS2800.1																																																																																				0.662	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		-	49689196	A	-	49689196	7	5	61	1	0	1	0	1	0	0	0	0	1530	188	7	0	2225	0	BSN	3	49689196	Frame_Shift_Del	DEL	A	TCGA-KO-8411-01A-11D-2310-10	7028591	49689196	148333234	12	6030											
RAD54L2	23132	broad.mit.edu	37	chr3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-																															tggagctggaggatgcggaaGaggaggaggaggaggaggag																										TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:51624506_51624508delGAG	ENST00000409535.2	+	2	195_197	c.70_72delGAG	c.(70-72)gagdel	p.E30del		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	30						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)		ggatgcggaagaggaggaggagg	0.586																																						.											0																																										SO:0001651	inframe_deletion	23132			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.70_72delGAG	3.37:g.51624515_51624517delGAG	ENSP00000386520:p.Glu30del		Q8TB57|Q9BV54	In_Frame_Del	DEL	ENST00000409535.2	37	CCDS33765.2																																																																																				0.586	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		-	51624508	GAG	-	51624506	7	5	61	1	0	1	0	1	0	0	0	0	12994	943	33	0	72	0	RAD54L2	3	51624506	In_Frame_Del	DEL	GAG	TCGA-KO-8411-01A-11D-2310-10	1935310	51624506	146397924	13	6031											
OR5H1	26341	mdanderson.org	37	chr3	97851659	97851659	+	Missense_Mutation	SNP	A	A	T																															taatatatctcatcaccatcAtggggaatcttggtctgatt																								rs199787047	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:97851659A>T	ENST00000354565.2	+	1	118	c.118A>T	c.(118-120)Atg>Ttg	p.M40L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40L(3)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCACCATCATGGGGAATCT	0.413																																						.											3	Substitution - Missense(3)	kidney(2)|endometrium(1)											45	49	48					3																	97851659		2174	4242	6416	SO:0001583	missense	26341			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.118A>T	3.37:g.97851659A>T	ENSP00000346575:p.Met40Leu			Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	3.067	-0.192020	0.06299	.	.	ENSG00000231192	ENST00000354565	T	0.00241	8.46	3.63	-0.16	0.13375	.	0.578292	0.14348	N	0.325303	T	0.00073	0.0002	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04976	-1.0914	10	0.33940	T	0.23	.	7.0903	0.25279	0.5661:0.0:0.4339:0.0	.	40	A6NKK0	OR5H1_HUMAN	L	40	ENSP00000346575:M40L	ENSP00000346575:M40L	M	+	1	0	OR5H1	99334349	0.000000	0.05858	0.016000	0.15963	0.102000	0.19082	-3.263000	0.00535	-0.297000	0.08934	0.164000	0.16699	ATG		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851659	A	T	97851659	3	4	61	1	0	0	0	0	1	0	0	0	11159	217	8	5	120	5	OR5H1	3	97851659	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	46227153	97851659	100170771	14	6032	162	2									
OR5H1	26341	mdanderson.org	37	chr3	97851661	97851661	+	Missense_Mutation	SNP	G	G	T																															atatatctcatcaccatcatGgggaatcttggtctgattgc																								rs200721525	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:97851661G>T	ENST00000354565.2	+	1	120	c.120G>T	c.(118-120)atG>atT	p.M40I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40I(4)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCACCATCATGGGGAATCTTG	0.413																																						.											4	Substitution - Missense(4)	endometrium(2)|kidney(2)											46	50	48					3																	97851661		2173	4250	6423	SO:0001583	missense	26341			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.120G>T	3.37:g.97851661G>T	ENSP00000346575:p.Met40Ile			Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	3.467	-0.108676	0.06924	.	.	ENSG00000231192	ENST00000354565	T	0.00433	7.43	3.63	2.75	0.32379	.	0.578292	0.14348	N	0.325303	T	0.00178	0.0005	N	0.02842	-0.48	0.20764	N	0.999858	B	0.06786	0.001	B	0.04013	0.001	T	0.29882	-0.9997	10	0.33940	T	0.23	.	8.5896	0.33679	0.1182:0.0:0.8818:0.0	.	40	A6NKK0	OR5H1_HUMAN	I	40	ENSP00000346575:M40I	ENSP00000346575:M40I	M	+	3	0	OR5H1	99334351	0.002000	0.14202	0.678000	0.29963	0.118000	0.20060	-0.111000	0.10807	0.729000	0.32403	0.195000	0.17529	ATG		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851661	G	T	97851661	3	4	61	1	0	0	0	0	1	0	0	0	11159	1348	47	5	122	5	OR5H1	3	97851661	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	2	97851661	100170769	15	6033	162	2									
COL6A5	256076	hgsc.bcm.edu	37	chr3	130095482	130095482	+	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	ggaagaggcttcgaaagcccTgcagaaagacggggtgaaaa	15	4	15	7	2	0	4	0	1	0	3	1	6	0	5	1	4	2	2	1	4	5	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr3:130095482T>A	ENST00000432398.2	+	3	964	c.470T>A	c.(469-471)cTg>cAg	p.L157Q	COL6A5_ENST00000265379.6_Missense_Mutation_p.L157Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	157	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular 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						TCGAAAGCCCTGCAGAAAGAC	0.512																																						.											0													75	80	78					3																	130095482		692	1591	2283	SO:0001583	missense	256076			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.470T>A	3.37:g.130095482T>A	ENSP00000390895:p.Leu157Gln		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	T	11.74	1.730065	0.30684	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82893	-1.66;-1.66	5.14	5.14	0.70334	.	.	.	.	.	D	0.92792	0.7708	M	0.92317	3.295	0.34680	D	0.724616	D	0.89917	1.0	D	0.87578	0.998	D	0.97112	0.9805	9	0.87932	D	0	.	14.2338	0.65911	0.0:0.0:0.0:1.0	.	157	A8TX70-2	.	Q	157	ENSP00000390895:L157Q;ENSP00000265379:L157Q	ENSP00000265379:L157Q	L	+	2	0	COL6A5	131578172	0.958000	0.32768	0.849000	0.33467	0.023000	0.10783	6.861000	0.75478	2.064000	0.61679	0.455000	0.32223	CTG		0.512	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130095482	T	A	130095482	3	1	61	1	0	0	0	0	1	0	0	0	3702	1580	55	5	476	5	COL6A5	3	130095482	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10	32243821	130095482	67926948	16	6034											
FGFRL1	53834	mdanderson.org	37	chr4	1019078	1019078	+	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	acacacacacacacacactcTcacacacactcacacgtgga	16	4	3	18	1	2	0	2	0	1	0	3	1	2	1	0	1	0	0	0	1	0	0			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr4:1019078T>A	ENST00000398484.2	+	8	2038	c.1458T>A	c.(1456-1458)tcT>tcA	p.S486S	FGFRL1_ENST00000504138.1_Silent_p.S486S|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Silent_p.S486S|FGFRL1_ENST00000264748.6_Silent_p.S486S			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	486	His-rich.				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)			acacacactctcacacacact	0.607																																						.											0													12	14	13					4																	1019078		2171	4277	6448	SO:0001819	synonymous_variant	53834				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.1458T>A	4.37:g.1019078T>A			B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	CCDS3344.1																																																																																				0.607	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		A	1019078	T	A	1019078	2	1	61	1	0	0	0	0	0	0	0	1	5869	1538	54	5		5	FGFRL1	4	1019078	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10		1019078	190135198	17	6035											
DSPP	1834	broad.mit.edu	37	chr4	88535571	88535571	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgacagcagtgacagtgAcagcagtgatagcagtgaca	14	7	13	7	0	0	5	0	5	0	0	0	5	0	5	0	0	3	3	0	0	2	2			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr4:88535571A>G	ENST00000282478.7	+	4	1790	c.1757A>G	c.(1756-1758)gAc>gGc	p.D586G	DSPP_ENST00000399271.1_Missense_Mutation_p.D586G|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	586	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)		agtgacagtgacagcagtgat	0.458																																						.											0													76	80	79					4																	88535571		2165	4223	6388	SO:0001583	missense	1834			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.1757A>G	4.37:g.88535571A>G	ENSP00000282478:p.Asp586Gly		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	A	2.127	-0.400045	0.04865	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88975	-2.45;-2.45	3.69	3.69	0.42338	.	.	.	.	.	D	0.89022	0.6597	L	0.43923	1.385	0.24296	N	0.995148	D	0.64830	0.994	P	0.60609	0.877	T	0.78565	-0.2155	9	0.36615	T	0.2	.	5.9187	0.19070	0.874:0.0:0.126:0.0	.	586	Q9NZW4	DSPP_HUMAN	G	586	ENSP00000382213:D586G;ENSP00000282478:D586G	ENSP00000282478:D586G	D	+	2	0	DSPP	88754595	0.863000	0.29885	0.297000	0.24988	0.010000	0.07245	1.453000	0.35167	1.439000	0.47511	0.366000	0.22137	GAC		0.458	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		G	88535571	A	G	88535571	3	3	61	1	0	0	0	0	1	0	0	0	4782	275	10	2	1771	2	DSPP	4	88535571	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	87516493	88535571	102618705	18	6036											
FAT1	2195	broad.mit.edu	37	chr4	187541479	187541479	+	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	gtgtccactttaacaacggcGtagtagggaaggttgacaaa	13	9	12	7	2	0	1	0	1	0	0	1	2	1	2	1	3	2	3	1	3	6	5	rs532659201		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr4:187541479G>A	ENST00000441802.2	-	10	6470	c.6261C>T	c.(6259-6261)taC>taT	p.Y2087Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2087	Cadherin 19. {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						TAACAACGGCGTAGTAGGGAA	0.498										HNSCC(5;0.00058)			G|||	1	0.000199681	8e-04	0	5008	,	,		19018	0		0	False		,,,				2504	0				Colon(197;1040 2055 4143 4984 49344)	.											0													171	164	166					4																	187541479		1982	4151	6133	SO:0001819	synonymous_variant	2195			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.6261C>T	4.37:g.187541479G>A				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187541479	G	A	187541479	2	1	61	1	0	0	0	0	0	0	0	1	5689	1140	40	1		1	FAT1	4	187541479	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10	99005908	187541479	3612797	19	6037											
FRG1	2483	mdanderson.org	37	chr4	190876307	190876307	+	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	gggaaccagtctttcaaaatGtaagtgctgttattgtttat	11	16	9	5	0	2	0	1	0	1	0	2	1	2	1	1	1	2	4	1	1	6	6	rs200854715		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr4:190876307G>A	ENST00000226798.4	+	5	654		c.e5+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTTTCAAAATGTAAGTGCTGT	0.328																																						.											0													74	74	74					4																	190876307		2202	4295	6497	SO:0001630	splice_region_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.432+1G>A	4.37:g.190876307G>A			A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	18.80	3.700931	0.68501	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7779	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191113301	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.413000	0.80104	1.879000	0.54435	0.567000	0.79289	.		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	A	190876307	G	A	190876307	5	1	61	1	0	0	0	0	0	0	1	0	6046	1391	48	4	451	4	FRG1	4	190876307	Splice_Site	SNP	G	TCGA-KO-8411-01A-11D-2310-10	3334828	190876307	277969	20	6038											
OXCT1	5019	bcgsc.ca	37	chr5	41794806	41794806	+	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	tcattgcaaatgattcatcgCtggagaaaaaagaggctcct	14	10	9	8	1	2	3	2	1	0	2	4	4	3	3	1	2	1	3	1	2	4	2			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr5:41794806C>T	ENST00000196371.5	-	12	1305	c.1145G>A	c.(1144-1146)aGc>aAc	p.S382N	OXCT1_ENST00000509987.1_Missense_Mutation_p.S196N|OXCT1_ENST00000512084.1_5'Flank|OXCT1_ENST00000510634.1_5'Flank|OXCT1_ENST00000513081.1_5'Flank	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	382					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TGATTCATCGCTGGAGAAAAA	0.398																																						.											0													70	67	68					5																	41794806		2203	4300	6503	SO:0001583	missense	5019			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1145G>A	5.37:g.41794806C>T	ENSP00000196371:p.Ser382Asn		B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011963	0.93346	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.87729	-2.29;-2.29	5.84	5.84	0.93424	3-oxoacid CoA-transferase, subunit B (1);	0.079191	0.85682	D	0.000000	D	0.95981	0.8691	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96810	0.9596	10	0.87932	D	0	-17.4734	18.9061	0.92462	0.0:1.0:0.0:0.0	.	382	P55809	SCOT1_HUMAN	N	382;196	ENSP00000196371:S382N;ENSP00000425348:S196N	ENSP00000196371:S382N	S	-	2	0	OXCT1	41830563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.765000	0.95021	0.655000	0.94253	AGC		0.398	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		T	41794806	C	T	41794806	3	4	61	1	0	0	0	0	1	0	0	0	11329	797	28	4	441	4	OXCT1	5	41794806	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		41794806	139120454	21	6039											
SEMA6A	57556	mdanderson.org	37	chr5	115837967	115837967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtccagcctgtgccTctgtgtggtgttccgtcctg	2	14	13	12	1	1	0	0	0	1	0	4	1	4	1	5	2	2	1	5	2	0	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr5:115837967T>C	ENST00000343348.6	-	3	944	c.157A>G	c.(157-159)Agg>Ggg	p.R53G	SEMA6A_ENST00000257414.8_Missense_Mutation_p.R53G|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R53G|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	53	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)		AGCCTGTGCCTCTGTGTGGTG	0.498																																						.											0													249	247	248					5																	115837967		2049	4205	6254	SO:0001583	missense	57556			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.157A>G	5.37:g.115837967T>C	ENSP00000345512:p.Arg53Gly		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.913512	0.52439	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.29142	1.99;1.99;1.99;1.58;1.58	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.049179	0.85682	D	0.000000	T	0.43055	0.1230	M	0.67953	2.075	0.80722	D	1	P;P	0.49696	0.881;0.927	B;P	0.48677	0.382;0.586	T	0.44952	-0.9294	10	0.72032	D	0.01	.	15.2197	0.73303	0.0:0.0:0.0:1.0	.	53;53	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	G	53	ENSP00000345512:R53G;ENSP00000257414:R53G;ENSP00000424388:R53G;ENSP00000421935:R53G;ENSP00000425553:R53G	ENSP00000257414:R53G	R	-	1	2	SEMA6A	115865866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.895000	0.56258	2.082000	0.62665	0.528000	0.53228	AGG		0.498	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		C	115837967	T	C	115837967	3	2	61	1	0	0	0	0	1	0	0	0	14039	1550	54	2	3003	2	SEMA6A	5	115837967	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10	74043161	115837967	65077293	22	6040											
SLC26A8	116369	ucsc.edu	37	chr6	35930387	35930387	+	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	acgttgctcagaataataccAgccagcacagcctgtgggga	12	7	11	11	1	1	1	1	0	0	1	1	2	1	2	3	2	5	3	3	2	3	3			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr6:35930387A>G	ENST00000490799.1	-	12	1730	c.1377T>C	c.(1375-1377)gcT>gcC	p.A459A	SLC26A8_ENST00000394602.2_Silent_p.A354A|SLC26A8_ENST00000355574.2_Silent_p.A459A	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						GAATAATACCAGCCAGCACAG	0.458																																						.											0													113	99	104					6																	35930387		2203	4300	6503	SO:0001819	synonymous_variant	116369			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.1377T>C	6.37:g.35930387A>G				Silent	SNP	ENST00000490799.1	37	CCDS4813.1																																																																																				0.458	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			G	35930387	A	G	35930387	2	3	61	1	0	0	0	0	0	0	0	1	14523	175	7	2		2	SLC26A8	6	35930387	Silent	SNP	A	TCGA-KO-8411-01A-11D-2310-10		35930387	135184680	23	6041											
PKD1L1	168507	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chr7	47968829	47968829	+	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	tactggtggtaggcagtcacCgccattgcctcagacatgtt	8	11	11	11	1	2	1	2	0	0	1	2	1	2	1	3	3	2	3	3	3	2	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr7:47968829C>T	ENST00000289672.2	-	7	1082	c.1032G>A	c.(1030-1032)gcG>gcA	p.A344A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	344					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						AGGCAGTCACCGCCATTGCCT	0.527																																						.											0													131	123	126					7																	47968829		2203	4300	6503	SO:0001819	synonymous_variant	168507			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.1032G>A	7.37:g.47968829C>T			Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																				0.527	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47968829	C	T	47968829	2	4	61	1	0	0	0	0	0	0	0	1	11964	639	23	1		1	PKD1L1	7	47968829	Silent	SNP	C	TCGA-KO-8411-01A-11D-2310-10		47968829	111169834	24	6042											
POM121	9883	broad.mit.edu	37	chr7	72413476	72413477	+	Frame_Shift_Ins	INS	-	-	C																															tgaggggcagccaccgggggINSccgccaagccggcccttgcc																										TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr7:72413476_72413477insC	ENST00000434423.2	+	11	2944_2945	c.2944_2945insC	c.(2944-2946)gccfs	p.A982fs	POM121_ENST00000358357.3_Frame_Shift_Ins_p.A717fs|POM121_ENST00000257622.4_Frame_Shift_Ins_p.A717fs|POM121_ENST00000395270.1_Frame_Shift_Ins_p.A717fs|POM121_ENST00000446813.1_Frame_Shift_Ins_p.A717fs			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	982	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCACCGGGGGCCGCCAAGCCG	0.653																																						.											0																																										SO:0001589	frameshift_variant	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2946dupC	7.37:g.72413478_72413478dupC	ENSP00000405562:p.Ala982fs		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000434423.2	37																																																																																					0.653	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			C	72413477	-	C	72413476	7	5	61	1	0	1	1	0	0	0	0	0	12239	1203	42	0	2187	0	POM121	7	72413476	Frame_Shift_Ins	INS	-	TCGA-KO-8411-01A-11D-2310-10	24444647	72413476	86725187	25	6043											
GTF2IRD2	84163	mdanderson.org	37	chr7	74212075	74212075	+	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	acacgcgaaaagatctcgttGccagattttgtacccgtcat	11	11	8	11	4	2	2	1	0	1	2	3	3	2	2	2	0	2	2	2	0	3	4	rs2523348		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr7:74212075G>T	ENST00000405086.2	-	16	1965	c.1776C>A	c.(1774-1776)ggC>ggA	p.G592G	GTF2IRD2_ENST00000451013.2_Silent_p.G139G	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						agatctcgttgccagattttg	0.507																																					NSCLC(40;560 1096 7501 40315 49546)	.											0													68	64	65					7																	74212075		2203	4299	6502	SO:0001819	synonymous_variant	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1776C>A	7.37:g.74212075G>T			A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	CCDS5576.1																																																																																				0.507	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		T	74212075	G	T	74212075	2	4	61	1	0	0	0	0	0	0	0	1	6869	1306	46	5		5	GTF2IRD2	7	74212075	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10	1798599	74212075	84926588	26	6044											
AASS	10157	mdanderson.org	37	chr7	121773650	121773650	+	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	tgatgcctttgatgtgcttgGgagctagcggggcccttctc	4	13	14	10	1	1	2	0	2	1	0	2	3	1	3	2	3	4	2	2	3	1	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr7:121773650G>C	ENST00000393376.1	-	1	226	c.131C>G	c.(130-132)cCc>cGc	p.P44R	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P44R			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	44	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GATGTGCTTGGGAGCTAGCGG	0.537																																						.											0													112	97	102					7																	121773650		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.131C>G	7.37:g.121773650G>C	ENSP00000377040:p.Pro44Arg		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.699346	0.88830	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.91521	-2.86;-2.86	5.18	5.18	0.71444	Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98611	1.0663	10	0.87932	D	0	-13.2955	18.6875	0.91570	0.0:0.0:1.0:0.0	.	44	Q9UDR5	AASS_HUMAN	R	44	ENSP00000377040:P44R;ENSP00000403768:P44R	ENSP00000351834:P44R	P	-	2	0	AASS	121560886	1.000000	0.71417	0.932000	0.37286	0.883000	0.51084	9.771000	0.98977	2.390000	0.81377	0.557000	0.71058	CCC		0.537	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		C	121773650	G	C	121773650	3	2	61	1	0	0	0	0	1	0	0	0	24	1232	43	5	2741	5	AASS	7	121773650	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	47561575	121773650	37365013	27	6045											
GGH	8836	broad.mit.edu;bcgsc.ca	37	chr8	63942762	63942762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtatttcatagtctttcTctgtaagatccagcctgaaa	13	14	6	8	0	3	2	1	1	2	1	5	2	4	2	2	0	1	2	2	0	5	5			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr8:63942762T>C	ENST00000260118.6	-	3	641	c.239A>G	c.(238-240)gAg>gGg	p.E80G	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	80	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	ATAGTCTTTCTCTGTAAGATC	0.318																																						.											0													86	88	88					8																	63942762		2203	4293	6496	SO:0001583	missense	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.239A>G	8.37:g.63942762T>C	ENSP00000260118:p.Glu80Gly			Missense_Mutation	SNP	ENST00000260118.6	37	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	T	8.575	0.880955	0.17467	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.46451	0.87	5.45	-1.69	0.08186	.	2.128780	0.01441	N	0.015086	T	0.39064	0.1064	M	0.72479	2.2	0.09310	N	1	P	0.36616	0.561	B	0.34301	0.179	T	0.13899	-1.0492	10	0.27082	T	0.32	-20.6927	4.3633	0.11213	0.1164:0.066:0.3632:0.4545	.	80	Q92820	GGH_HUMAN	G	80;41	ENSP00000260118:E80G	ENSP00000260118:E80G	E	-	2	0	GGH	64105316	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.045000	0.12003	-0.432000	0.07297	-0.316000	0.08728	GAG		0.318	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			C	63942762	T	C	63942762	3	2	61	1	0	0	0	0	1	0	0	0	6357	1551	54	2	745	2	GGH	8	63942762	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10		63942762	82421260	28	6046											
PDP1	54704	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr8	94934838	94934838	+	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	aaatgcagtggagagcggccGggcactgctacccattctcc	9	7	12	13	2	1	1	0	0	1	1	2	2	1	1	3	3	4	3	3	3	2	2			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr8:94934838G>A	ENST00000297598.4	+	2	820	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	PDP1_ENST00000520728.1_Missense_Mutation_p.R184Q|PDP1_ENST00000396200.3_Missense_Mutation_p.R209Q|PDP1_ENST00000517764.1_Missense_Mutation_p.R184Q	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	184					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GAGAGCGGCCGGGCACTGCTA	0.453																																						.											0													62	59	60					8																	94934838		2203	4300	6503	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.551G>A	8.37:g.94934838G>A	ENSP00000297598:p.Arg184Gln		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682500	0.68157	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827	T;T;T;T	0.45276	0.91;0.91;0.9;0.91	6.16	5.28	0.74379	Protein phosphatase 2C-like (3);	0.058183	0.64402	N	0.000002	T	0.40862	0.1134	L	0.53249	1.67	0.58432	D	0.999996	P;P	0.47409	0.895;0.895	B;B	0.39258	0.295;0.198	T	0.34850	-0.9812	10	0.40728	T	0.16	-8.858	17.6344	0.88118	0.0:0.1231:0.8769:0.0	.	235;184	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Q	184;184;209;184;184	ENSP00000297598:R184Q;ENSP00000428317:R184Q;ENSP00000379503:R209Q;ENSP00000430380:R184Q	ENSP00000297598:R184Q	R	+	2	0	PDP1	95004014	1.000000	0.71417	0.957000	0.39632	0.969000	0.65631	7.989000	0.88205	1.604000	0.50143	-0.182000	0.12963	CGG		0.453	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		A	94934838	G	A	94934838	3	1	61	1	0	0	0	0	1	0	0	0	11685	1116	39	1	734	1	PDP1	8	94934838	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	30992076	94934838	51429184	29	6047											
TRPS1	7227	broad.mit.edu	37	chr8	116616283	116616283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaggagtacatctacgTcaggggtggtgaatgaacac	14	7	14	6	1	2	3	1	2	1	1	2	5	2	4	0	4	3	1	0	4	5	2			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr8:116616283T>C	ENST00000220888.5	-	3	2033	c.1874A>G	c.(1873-1875)gAc>gGc	p.D625G	TRPS1_ENST00000519674.1_Missense_Mutation_p.D625G|TRPS1_ENST00000395715.3_Missense_Mutation_p.D638G|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.D629G			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	625					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)			TACATCTACGTCAGGGGTGGT	0.517									Langer-Giedion syndrome																													.											0													79	78	78					8																	116616283		2051	4198	6249	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	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.1874A>G	8.37:g.116616283T>C	ENSP00000220888:p.Asp625Gly		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	T	16.00	2.999497	0.54147	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	L	0.29908	0.895	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.31475	-0.9942	10	0.87932	D	0	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	629;625;638	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	G	638;625;629;625	ENSP00000379065:D638G;ENSP00000220888:D625G;ENSP00000428680:D629G;ENSP00000429174:D625G	ENSP00000220888:D625G	D	-	2	0	TRPS1	116685458	1.000000	0.71417	0.394000	0.26270	0.434000	0.31775	7.628000	0.83189	2.326000	0.78906	0.533000	0.62120	GAC		0.517	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		C	116616283	T	C	116616283	3	2	61	1	0	0	0	0	1	0	0	0	16590	1667	58	2	1987	2	TRPS1	8	116616283	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10	21681445	116616283	29747739	30	6048											
C9orf79	286234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	90500482	90500482	+	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	tgcacattcatccaccctgaCgtgcagaagctgctggagac	10	8	10	13	1	1	3	1	1	0	2	2	4	2	3	2	1	4	4	2	1	1	1	rs199568188	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr9:90500482C>T	ENST00000325643.5	+	4	1146	c.1080C>T	c.(1078-1080)gaC>gaT	p.D360D		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	360					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCACCCTGACGTGCAGAAGC	0.577													.|||	3	0.000599042	0	0	5008	,	,		18697	0.001		0.002	False		,,,				2504	0					.											0													65	64	64					9																	90500482		2203	4300	6503	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1080C>T	9.37:g.90500482C>T			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																				0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90500482	C	T	90500482	2	4	61	1	0	0	0	0	0	0	0	1	2497	535	19	1		1	C9orf79	9	90500482	Silent	SNP	C	TCGA-KO-8411-01A-11D-2310-10		90500482	50712949	31	6049											
LCN1	3933	mdanderson.org	37	chr9	138413982	138413982	+	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	gtgacacccatgaccctcacGaccctggaagggggcaacct	10	5	11	15	1	1	2	1	2	0	0	1	4	1	3	4	3	1	1	4	3	2	0	rs150536266	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr9:138413982G>A	ENST00000263598.2	+	2	240	c.180G>A	c.(178-180)acG>acA	p.T60T	LCN1_ENST00000371781.3_Silent_p.T60T	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	60					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)		TGACCCTCACGACCCTGGAAG	0.612													G|||	14	0.00279553	0.0091	0	5008	,	,		17535	0		0	False		,,,				2504	0.002					.											0								G		11,4381		0,11,2185	13	12	12		180	-1.6	0	9	dbSNP_134	12	0,8564		0,0,4282	no	coding-synonymous	LCN1	NM_002297.2		0,11,6467	AA,AG,GG		0.0,0.2505,0.0849		60/177	138413982	11,12945	2196	4282	6478	SO:0001819	synonymous_variant	3933				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.180G>A	9.37:g.138413982G>A			Q5T8A1	Silent	SNP	ENST00000263598.2	37	CCDS6991.1																																																																																				0.612	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		A	138413982	G	A	138413982	2	1	61	1	0	0	0	0	0	0	0	1	8680	1045	37	1		1	LCN1	9	138413982	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10	47913500	138413982	2799449	32	6050											
FAM21C	253725	mdanderson.org	37	chr10	46248649	46248649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacctcttcacggaagccTcccaggatcggcaagctgga	9	7	12	13	2	2	1	1	1	1	0	4	4	3	4	3	4	2	2	3	4	2	1	rs2610452	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr10:46248649T>C	ENST00000336378.4	+	13	1262	c.1144T>C	c.(1144-1146)Tcc>Ccc	p.S382P	FAM21C_ENST00000374362.2_Missense_Mutation_p.S382P|FAM21C_ENST00000540872.1_Missense_Mutation_p.S382P|FAM21C_ENST00000537517.1_Missense_Mutation_p.S358P|FAM21C_ENST00000359860.4_Missense_Mutation_p.S326P	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	382				S -> P (in Ref. 4; AAI50612). {ECO:0000305}.	retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CACGGAAGCCTCCCAGGATCG	0.493													C|||	755	0.150759	0.1823	0.1196	5008	,	,		7906	0.1706		0.0944	False		,,,				2504	0.1677					.											0													50	54	53					10																	46248649		1176	3339	4515	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1144T>C	10.37:g.46248649T>C	ENSP00000337541:p.Ser382Pro		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		66	0.03021978021978022	19	0.03861788617886179	7	0.019337016574585635	27	0.0472027972027972	13	0.017150395778364115	C	0.089	-1.169554	0.01660	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.23	3.23	0.37069	.	0.311519	0.35096	N	0.003450	T	0.00906	0.0030	N	0.00436	-1.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36480	-0.9746	9	0.02654	T	1	-3.2928	6.6596	0.23007	0.0:0.8641:0.0:0.1359	.	358;382;382;327	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	P	382;382;358;382;382;326;294	.	ENSP00000337541:S382P	S	+	1	0	FAM21C	45568655	0.006000	0.16342	0.005000	0.12908	0.071000	0.16799	0.625000	0.24477	0.714000	0.32081	-0.176000	0.13171	TCC		0.493	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				C	46248649	T	C	46248649	3	2	61	1	0	0	0	0	1	0	0	0	5542	1551	54	2	1194	2	FAM21C	10	46248649	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10		46248649	89286098	33	6051											
SLIT1	6585	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	98819913	98819913	+	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	tgatgccgttcagctccaggCgtctgcggggagaaaagaga	10	7	15	9	3	2	3	1	1	1	2	3	5	3	3	2	3	3	2	2	3	2	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr10:98819913C>T	ENST00000266058.4	-	10	1189	c.944G>A	c.(943-945)cGc>cAc	p.R315H	SLIT1_ENST00000371070.4_Missense_Mutation_p.R315H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.R315H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	315					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)		CAGCTCCAGGCGTCTGCGGGG	0.607																																						.											0													83	76	78					10																	98819913		2203	4300	6503	SO:0001583	missense	6585			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.944G>A	10.37:g.98819913C>T	ENSP00000266058:p.Arg315His		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611644	0.87258	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.57273	1.84;1.84;0.67;0.41	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	N	0.17723	0.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67440	-0.5670	10	0.87932	D	0	.	18.7943	0.91988	0.0:1.0:0.0:0.0	.	315;315	E7EWQ8;O75093	.;SLIT1_HUMAN	H	315;315;291;315;298;291;315	ENSP00000266058:R315H;ENSP00000360109:R315H;ENSP00000315005:R298H;ENSP00000360080:R315H	ENSP00000266058:R315H	R	-	2	0	SLIT1	98809903	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.197000	0.77814	2.464000	0.83262	0.561000	0.74099	CGC		0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		T	98819913	C	T	98819913	3	4	61	1	0	0	0	0	1	0	0	0	14739	768	27	1	3772	1	SLIT1	10	98819913	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	52571264	98819913	36714834	34	6052											
NEURL	9148	broad.mit.edu	37	chr10	105331354	105331354	+	Missense_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	ctgactcgctgcccaagtacGcctgccccgacctggtgtcc	5	8	10	18	3	0	1	0	1	0	0	2	2	1	1	6	1	3	2	6	1	2	1	rs539510212		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr10:105331354G>A	ENST00000369780.4	+	3	833	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	NEURL_ENST00000369777.2_Missense_Mutation_p.A125T	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		142	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCCAAGTACGCCTGCCCCGA	0.632													G|||	1	0.000199681	0	0.0014	5008	,	,		17124	0		0	False		,,,				2504	0					.											0													65	51	55					10																	105331354		2203	4300	6503	SO:0001583	missense	9148																														ENST00000369780.4:c.424G>A	10.37:g.105331354G>A	ENSP00000358795:p.Ala142Thr		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151231	0.94645	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	T;T	0.31247	1.5;1.5	5.69	5.69	0.88448	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66348	-0.5946	10	0.62326	D	0.03	-17.5358	18.8032	0.92027	0.0:0.0:1.0:0.0	.	142	O76050	NEU1A_HUMAN	T	142;125;125;67	ENSP00000358795:A142T;ENSP00000358792:A125T	ENSP00000358792:A125T	A	+	1	0	NEURL	105321344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.928000	0.87587	2.681000	0.91329	0.561000	0.74099	GCC		0.632	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			A	105331354	G	A	105331354	3	1	61	1	0	0	0	0	1	0	0	0	10345	1087	38	1	434	1	NEURL	10	105331354	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	6511441	105331354	30203393	35	6053											
CTBP2	1488	bcgsc.ca	37	chr10	126715160	126715161	+	Intron	INS	-	-	GCCGCAGGCTGGGGCTGCAGG																															ggatgctgtctgcagaggagINSccgcagcgcccagagaagcc																										TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr10:126715160_126715161insGCCGCAGGCTGGGGCTGCAGG	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_In_Frame_Ins_p.390_391insCSPSLRP|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	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)			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)		CTGCAGAGGAGCCGCAGCGCCC	0.698																																						.											0																																										SO:0001627	intron_variant	1488			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+12404->CCTGCAGCCCCAGCCTGCGGC	10.37:g.126715160_126715161insGCCGCAGGCTGGGGCTGCAGG			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	In_Frame_Ins	INS	ENST00000337195.5	37	CCDS7643.1																																																																																				0.698	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		GCCGCAGGCTGGGGCTGCAGG	126715161	-	GCCGCAGGCTGGGGCTGCAGG	126715160	6	5	61	0	1	1	1	0	0	0	0	0	3998	971	34	0		0	CTBP2	10	126715160	Intron	INS	-	TCGA-KO-8411-01A-11D-2310-10	21383806	126715160	8819587	36	6054											
MUC6	4588	mdanderson.org	37	chr11	1017679	1017679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttggtggtagaagttgAggtggcttcagcatggtgtg	7	13	18	3	0	1	2	1	1	0	1	1	3	1	2	0	5	1	5	0	5	2	4	rs111294390	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:1017679A>G	ENST00000421673.2	-	31	5172	c.5122T>C	c.(5122-5124)Tca>Cca	p.S1708P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1708	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)		GTAGAAGTTGAGGTGGCTTCA	0.542																																						.											0													671	663	666					11																	1017679		2200	4286	6486	SO:0001583	missense	4588			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.5122T>C	11.37:g.1017679A>G	ENSP00000406861:p.Ser1708Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	a	1.190	-0.635554	0.03584	.	.	ENSG00000184956	ENST00000421673	T	0.24350	1.86	1.74	-3.47	0.04753	.	.	.	.	.	T	0.06645	0.0170	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13150	-1.0520	9	0.30078	T	0.28	.	0.4744	0.00537	0.3445:0.1183:0.2044:0.3327	.	1708	Q6W4X9	MUC6_HUMAN	P	1708	ENSP00000406861:S1708P	ENSP00000406861:S1708P	S	-	1	0	MUC6	1007679	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.120000	0.00595	-4.140000	0.00070	-0.883000	0.02948	TCA		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017679	A	G	1017679	3	3	61	1	0	0	0	0	1	0	0	0	9980	304	11	2	2209	2	MUC6	11	1017679	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10		1017679	133988837	37	6055											
MUC6	4588	mdanderson.org	37	chr11	1018271	1018271	+	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	ctgaatgagctgtgggcttgGctggtcccactggtggtcgg	4	11	17	9	1	0	2	0	2	0	0	2	2	1	2	1	6	1	3	1	6	1	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:1018271G>C	ENST00000421673.2	-	31	4580	c.4530C>G	c.(4528-4530)agC>agG	p.S1510R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1510	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)		TGTGGGCTTGGCTGGTCCCAC	0.552																																						.											0													242	258	253					11																	1018271		2170	4268	6438	SO:0001583	missense	4588			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.4530C>G	11.37:g.1018271G>C	ENSP00000406861:p.Ser1510Arg		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	2.932	-0.220929	0.06061	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	2.41	-4.82	0.03171	.	.	.	.	.	T	0.14098	0.0341	L	0.55481	1.735	0.09310	N	1	P	0.38978	0.652	B	0.32724	0.151	T	0.01228	-1.1412	9	0.34782	T	0.22	.	5.8101	0.18462	0.5536:0.2513:0.1951:0.0	.	1510	Q6W4X9	MUC6_HUMAN	R	1510	ENSP00000406861:S1510R	ENSP00000406861:S1510R	S	-	3	2	MUC6	1008271	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.010000	0.03656	-2.668000	0.00415	-0.657000	0.03884	AGC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1018271	G	C	1018271	3	2	61	1	0	0	0	0	1	0	0	0	9980	1194	42	5	2801	5	MUC6	11	1018271	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	592	1018271	133988245	38	6056											
MUC2	4583	hgsc.bcm.edu	37	chr11	1092845	1092845	+	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	aaccccaacacccaccggcaCacagaccccaacaacgacac	16	0	4	21	2	0	1	0	0	0	1	0	2	0	1	6	1	4	1	6	1	4	0			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:1092845C>T	ENST00000441003.2	+	30	4691	c.4664C>T	c.(4663-4665)aCa>aTa	p.T1555I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1556I|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)	CCCACCGGCACACAGACCCCA	0.632																																						.											0													94	126	114					11																	1092845		1882	3484	5366	SO:0001583	missense	4583			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.4664C>T	11.37:g.1092845C>T	ENSP00000415183:p.Thr1555Ile		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.039	-0.197860	0.06219	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.58;2.91	1.59	1.59	0.23543	.	7739.210000	0.00610	U	0.000401	T	0.10508	0.0257	.	.	.	0.09310	N	1	P	0.34699	0.464	B	0.24269	0.052	T	0.33369	-0.9871	9	0.42905	T	0.14	.	10.2908	0.43594	0.0:1.0:0.0:0.0	.	1555	E7EUV1	.	I	1555;1556	ENSP00000415183:T1555I;ENSP00000351956:T1556I	ENSP00000351956:T1556I	T	+	2	0	MUC2	1082845	0.000000	0.05858	0.001000	0.08648	0.338000	0.28826	0.112000	0.15479	0.906000	0.36621	0.109000	0.15622	ACA		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092845	C	T	1092845	3	4	61	1	0	0	0	0	1	0	0	0	9975	478	17	4	4782	4	MUC2	11	1092845	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	74574	1092845	133913671	39	6057											
MYBPC3	4607	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr11	47356593	47356593	+	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	ctgcacaaaggggcactcacGcaggatctcctgcactgtca	10	7	10	14	1	3	0	2	0	1	0	4	1	3	1	1	3	2	4	1	3	1	0	rs397515992		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:47356593G>A	ENST00000545968.1	-	27	2959	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*	MYBPC3_ENST00000256993.4_Splice_Site_p.Q968*|MYBPC3_ENST00000399249.2_Splice_Site_p.Q969*	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	969					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)		GGGCACTCACGCAGGATCTCC	0.642																																						.											0			GRCh37	CM981328	MYBPC3	M							27	32	31					11																	47356593		1984	4157	6141	SO:0001630	splice_region_variant	4607			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.2905+1C>T	11.37:g.47356593G>A			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Nonsense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	38	6.868535	0.97897	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	.	.	.	5.16	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1437	0.54012	0.0743:0.1318:0.7939:0.0	.	.	.	.	X	969;969;968	.	.	Q	-	1	0	MYBPC3	47313169	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.648000	0.54410	1.185000	0.42971	0.455000	0.32223	CAA		0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		Nonsense_Mutation	A	47356593	G	A	47356593	5	1	61	1	0	0	0	0	0	0	1	0	10013	1101	38	1	951	1	MYBPC3	11	47356593	Splice_Site	SNP	G	TCGA-KO-8411-01A-11D-2310-10	46263748	47356593	87649923	40	6058											
KRTAP5-10	387273	mdanderson.org	37	chr11	71276725	71276725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctccggctgtgggggctAtggctctggctgtgggggct	1	11	20	9	1	1	0	0	0	1	0	2	0	2	0	1	8	0	6	1	8	1	1	rs201471375	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:71276725A>G	ENST00000398531.1	+	1	117	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.Y31C	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	31						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGGGGCTATGGCTCTGGC	0.677																																						.											0																																										SO:0001583	missense	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.92A>G	11.37:g.71276725A>G	ENSP00000381542:p.Tyr31Cys		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	g	4.044	0.005740	0.07866	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.00856	5.61;5.85	1.67	1.67	0.24075	.	.	.	.	.	T	0.00271	0.0008	N	0.00031	-2.595	0.20638	N	0.999878	B	0.02656	0.0	B	0.01281	0.0	T	0.46816	-0.9164	9	0.48119	T	0.1	.	4.2372	0.10632	0.3976:0.0:0.6024:0.0	.	31	Q6L8G5	KR510_HUMAN	C	31	ENSP00000381542:Y31C;ENSP00000365719:Y31C	ENSP00000365719:Y31C	Y	+	2	0	KRTAP5-10	70954373	0.001000	0.12720	0.866000	0.34008	0.119000	0.20118	-1.171000	0.03115	0.049000	0.15920	-0.473000	0.04963	TAT		0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			G	71276725	A	G	71276725	3	3	61	1	0	0	0	0	1	0	0	0	8559	449	16	4	94	4	KRTAP5-10	11	71276725	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	23920132	71276725	63729791	41	6059											
ARHGEF17	9828	mdanderson.org	37	chr11	73020389	73020389	+	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	cctcctgctcctcctcctccAtcgccgcctcctatcctgtc	2	12	4	23	2	0	0	0	0	0	0	9	0	7	0	10	0	1	1	10	0	1	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr11:73020389A>T	ENST00000263674.3	+	1	1056	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	236					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						CTCCTCCTCCATCGCCGCCTC	0.677																																						.											0													12	15	14					11																	73020389		2048	3983	6031	SO:0001583	missense	9828			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.706A>T	11.37:g.73020389A>T	ENSP00000263674:p.Ile236Phe		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870463	0.33069	.	.	ENSG00000110237	ENST00000263674	T	0.59638	0.25	4.61	0.695	0.18070	.	0.993735	0.08148	N	0.990484	T	0.35480	0.0933	N	0.24115	0.695	0.19775	N	0.999951	P	0.35982	0.531	B	0.24394	0.053	T	0.25117	-1.0141	10	0.54805	T	0.06	-1.1385	5.2264	0.15397	0.6445:0.1573:0.1981:0.0	.	236	Q96PE2	ARHGH_HUMAN	F	236	ENSP00000263674:I236F	ENSP00000263674:I236F	I	+	1	0	ARHGEF17	72698037	0.000000	0.05858	0.765000	0.31456	0.926000	0.56050	-0.104000	0.10923	0.647000	0.30713	0.379000	0.24179	ATC		0.677	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73020389	A	T	73020389	3	4	61	1	0	0	0	0	1	0	0	0	900	217	8	5	708	5	ARHGEF17	11	73020389	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	1743664	73020389	61986127	42	6060											
ATN1	1822	mdanderson.org	37	chr12	7045906	7045906	+	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	cagcaacagcagcagcagcaGcagcagcagcagcagcagca	15	0	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0	rs377147612		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:7045906G>A	ENST00000356654.4	+	5	1713	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	ATN1_ENST00000396684.2_Silent_p.Q492Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	492	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	0.647																																						.											0													43	53	49					12																	7045906		2188	4263	6451	SO:0001819	synonymous_variant	1822			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.1476G>A	12.37:g.7045906G>A			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.647	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045906	G	A	7045906	2	1	61	1	0	0	0	0	0	0	0	1	1111	962	34	4		4	ATN1	12	7045906	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10		7045906	126805989	43	6061											
CLEC9A	283420	hgsc.bcm.edu;mdanderson.org	37	chr12	10205356	10205356	+	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	cagacacttaccagaaatgtCtgtcttccaacaaatgttca	14	11	5	11	0	3	2	1	0	2	2	4	2	4	2	2	0	2	1	2	0	4	3			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:10205356C>T	ENST00000355819.1	+	4	683	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	24					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CCAGAAATGTCTGTCTTCCAA	0.403																																						.											0													106	101	103					12																	10205356		2203	4300	6503	SO:0001819	synonymous_variant	283420				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"C-type lectin domain containing"	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.70C>T	12.37:g.10205356C>T			B0ZBM2	Silent	SNP	ENST00000355819.1	37	CCDS8611.1																																																																																				0.403	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		T	10205356	C	T	10205356	2	4	61	1	0	0	0	0	0	0	0	1	3522	912	32	4		4	CLEC9A	12	10205356	Silent	SNP	C	TCGA-KO-8411-01A-11D-2310-10	3159450	10205356	123646539	44	6062											
EPS8	2059	broad.mit.edu;hgsc.bcm.edu	37	chr12	15784389	15784392	+	Frame_Shift_Del	DEL	TTGT	TTGT	-																															aacttacggtccaccggaagTtgtttgtgtctctggctgtc																										TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	TTGT	TTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:15784389_15784392delTTGT	ENST00000281172.5	-	18	2464_2467	c.2028_2031delACAA	c.(2026-2031)aaacaafs	p.KQ676fs	EPS8_ENST00000542903.1_Frame_Shift_Del_p.KQ416fs|EPS8_ENST00000540613.1_Frame_Shift_Del_p.KQ416fs|EPS8_ENST00000543612.1_Frame_Shift_Del_p.KQ676fs|EPS8_ENST00000543523.1_Frame_Shift_Del_p.KQ676fs	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	676	Effector region. {ECO:0000250}.				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)		CCACCGGAAGTTGTTTGTGTCTCT	0.441																																						.											0																																										SO:0001589	frameshift_variant	2059			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.2028_2031delACAA	12.37:g.15784393_15784396delTTGT	ENSP00000281172:p.Lys676fs		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Frame_Shift_Del	DEL	ENST00000281172.5	37	CCDS31753.1																																																																																				0.441	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			-	15784392	TTGT	-	15784389	7	5	61	1	0	1	0	1	0	0	0	0	5194	1722	60	0	453	0	EPS8	12	15784389	Frame_Shift_Del	DEL	TTGT	TCGA-KO-8411-01A-11D-2310-10	5579033	15784389	118067506	45	6063	163	2									
EPS8	2059	bcgsc.ca	37	chr12	15784390	15784393	+	Frame_Shift_Del	DEL	TTGT	TTGT	-																															acttacggtccaccggaagtTgtttgtgtctctggctgtct																										TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	TTGT	TTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:15784390_15784393delTTGT	ENST00000281172.5	-	18	2463_2466	c.2027_2030delACAA	c.(2026-2031)aacaaafs	p.NK676fs	EPS8_ENST00000542903.1_Frame_Shift_Del_p.NK416fs|EPS8_ENST00000540613.1_Frame_Shift_Del_p.NK416fs|EPS8_ENST00000543612.1_Frame_Shift_Del_p.NK676fs|EPS8_ENST00000543523.1_Frame_Shift_Del_p.NK676fs	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	676	Effector region. {ECO:0000250}.				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)		CACCGGAAGTTGTTTGTGTCTCTG	0.446																																						.											0																																										SO:0001589	frameshift_variant	2059			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.2027_2030delACAA	12.37:g.15784390_15784393delTTGT	ENSP00000281172:p.Asn676fs		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Frame_Shift_Del	DEL	ENST00000281172.5	37	CCDS31753.1																																																																																				0.446	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			-	15784393	TTGT	-	15784390	7	5	61	1	0	1	0	1	0	0	0	0	5194	1812	63	0	454	0	EPS8	12	15784390	Frame_Shift_Del	DEL	TTGT	TCGA-KO-8411-01A-11D-2310-10	1	15784390	118067505	46	6064	163	2									
SLC4A8	9498	broad.mit.edu	37	chr12	51868965	51868966	+	Frame_Shift_Ins	INS	-	-	G																															agcaccttaaagacgtttaaINSgacgagccgttatttcccaa																										TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:51868965_51868966insG	ENST00000453097.2	+	16	2364_2365	c.2147_2148insG	c.(2146-2151)aagacgfs	p.T717fs	SLC4A8_ENST00000514353.3_Frame_Shift_Ins_p.T664fs|SLC4A8_ENST00000358657.3_Frame_Shift_Ins_p.T744fs|SLC4A8_ENST00000394856.1_Frame_Shift_Ins_p.T664fs	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)		AAGACGTTTAAGACGAGCCGTT	0.446																																						.											0																																										SO:0001589	frameshift_variant	9498			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.2148dupG	12.37:g.51868966_51868966dupG	ENSP00000405812:p.Thr717fs			Frame_Shift_Ins	INS	ENST00000453097.2	37	CCDS44890.1																																																																																				0.446	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		G	51868966	-	G	51868965	7	5	61	1	0	1	1	0	0	0	0	0	14659	72	3	0	2209	0	SLC4A8	12	51868965	Frame_Shift_Ins	INS	-	TCGA-KO-8411-01A-11D-2310-10	36084575	51868965	81982930	47	6065											
MARCH9	92979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	58152575	58152575	+	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	cggacgctcttgcctcagcgCtgcggttatacaatcttgca	7	11	10	13	4	3	0	1	0	2	0	3	1	3	1	1	2	5	4	1	2	3	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:58152575C>T	ENST00000266643.5	+	4	1367	c.936C>T	c.(934-936)cgC>cgT	p.R312R	MARCH9_ENST00000548358.1_Silent_p.R199R	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	312					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)			TGCCTCAGCGCTGCGGTTATA	0.657																																						.											0													28	29	28					12																	58152575		2203	4300	6503	SO:0001819	synonymous_variant	92979			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.936C>T	12.37:g.58152575C>T			B2R9U9|Q86VN5|Q96GG2	Silent	SNP	ENST00000266643.5	37	CCDS31847.1																																																																																				0.657	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		T	58152575	C	T	58152575	2	4	61	1	0	0	0	0	0	0	0	1	9308	784	28	4		4	MARCH9	12	58152575	Silent	SNP	C	TCGA-KO-8411-01A-11D-2310-10	6283610	58152575	75699320	48	6066											
PPFIA2	8499	broad.mit.edu	37	chr12	81675147	81675147	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaacttctgtactgaggtAaccccaagctgggaagccat	12	9	10	10	0	1	1	0	1	1	0	1	2	1	2	3	2	5	4	3	2	5	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:81675147A>G	ENST00000549396.1	-	27	3261	c.3101T>C	c.(3100-3102)tTa>tCa	p.L1034S	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.L929S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.L570S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.L881S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.L220S|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000552948.1_Missense_Mutation_p.L1013S|PPFIA2_ENST00000550584.2_Missense_Mutation_p.L1034S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.L933S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.L1019S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.L1019S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.L1028S	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	1034	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						GTACTGAGGTAACCCCAAGCT	0.393																																						.											0													115	110	111					12																	81675147		1840	4113	5953	SO:0001583	missense	8499			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.3101T>C	12.37:g.81675147A>G	ENSP00000450337:p.Leu1034Ser		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.428353|4.428353	0.83667|0.83667	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	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|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	D|D	0.85353|0.85353	0.5677|0.5677	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.88989|0.88989	0.3413|0.3413	10|5	0.87932|.	D|.	0|.	-8.0075|-8.0075	15.9105|15.9105	0.79470|0.79470	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1034|.	O75334|.	LIPA2_HUMAN|.	S|H	1034;1019;570;220;933;1045;1019;1028;929;1013|137	ENSP00000450337:L1034S;ENSP00000450298:L1019S;ENSP00000438337:L570S;ENSP00000445532:L220S;ENSP00000385093:L933S;ENSP00000327416:L1019S;ENSP00000449338:L1028S;ENSP00000388373:L929S;ENSP00000447868:L1013S|.	ENSP00000327416:L1019S|.	L|Y	-|-	2|1	0|0	PPFIA2|PPFIA2	80199278|80199278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.221000|9.221000	0.95188|0.95188	2.220000|2.220000	0.72140|0.72140	0.454000|0.454000	0.30748|0.30748	TTA|TAC		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			G	81675147	A	G	81675147	3	3	61	1	0	0	0	0	1	0	0	0	12310	372	13	4	696	4	PPFIA2	12	81675147	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	23522572	81675147	52176748	49	6067											
RILPL1	353116	broad.mit.edu	37	chr12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttatctcgggagaagaaGctaaacctttggaagggaaa	14	10	11	6	1	2	2	0	0	2	2	3	5	2	4	1	3	2	1	1	3	7	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R|SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					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)		p.S358R(3)		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)		GGGAGAAGAAGCTAAACCTTT	0.498																																						.											3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65	63	63					12																	123957223		1944	4154	6098	SO:0001583	missense	353116			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.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		T	123957223	G	T	123957223	3	4	61	1	0	0	0	0	1	0	0	0	13361	962	34	5	141	5	RILPL1	12	123957223	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	42282076	123957223	9894672	50	6068											
XPO4	64328	broad.mit.edu	37	chr13	21373326	21373326	+	Missense_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	ctgtccaatactgctgtttgGtttctgtgtccatatgtgca	6	17	9	9	0	1	0	0	0	1	0	3	0	3	0	2	1	3	4	2	1	3	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr13:21373326G>A	ENST00000255305.6	-	16	2371	c.2300C>T	c.(2299-2301)aCc>aTc	p.T767I	XPO4_ENST00000400602.2_Missense_Mutation_p.T767I			Q9C0E2	XPO4_HUMAN	exportin 4	767					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTGCTGTTTGGTTTCTGTGTC	0.443																																						.											0													252	246	248					13																	21373326		1919	4139	6058	SO:0001583	missense	64328			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2300C>T	13.37:g.21373326G>A	ENSP00000255305:p.Thr767Ile		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336919	0.41398	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.54479	0.57;0.57	5.98	5.98	0.97165	Armadillo-type fold (1);	0.145132	0.64402	D	0.000008	T	0.42899	0.1223	L	0.29908	0.895	0.51767	D	0.999936	B	0.13145	0.007	B	0.08055	0.003	T	0.16928	-1.0386	10	0.38643	T	0.18	-14.1782	15.5733	0.76356	0.0673:0.0:0.9327:0.0	.	767	Q9C0E2	XPO4_HUMAN	I	767;637;767	ENSP00000383444:T767I;ENSP00000255305:T767I	ENSP00000255305:T767I	T	-	2	0	XPO4	20271326	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.526000	0.81920	2.835000	0.97688	0.650000	0.86243	ACC		0.443	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		A	21373326	G	A	21373326	3	1	61	1	0	0	0	0	1	0	0	0	17443	1261	44	3	1187	3	XPO4	13	21373326	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10		21373326	93796552	51	6069											
CDH24	64403	broad.mit.edu	37	chr14	23522739	23522739	+	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	aggggagtccaggtcagccgCggagatctggcctaccaggg	8	5	17	11	2	2	1	1	0	1	1	3	3	3	2	4	6	2	0	4	6	1	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr14:23522739C>T	ENST00000267383.5	-	6	1284	c.1192G>A	c.(1192-1194)Gcg>Acg	p.A398T	CDH24_ENST00000554034.1_Missense_Mutation_p.A398T|CDH24_ENST00000487137.2_Missense_Mutation_p.A398T|CDH24_ENST00000397359.3_Missense_Mutation_p.A398T			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGTCAGCCGCGGAGATCTGG	0.632																																						.											0													34	32	33					14																	23522739		2203	4300	6503	SO:0001583	missense	64403			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.1192G>A	14.37:g.23522739C>T	ENSP00000267383:p.Ala398Thr		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431928	0.83776	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	H	0.96662	3.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.89350	0.3660	10	0.87932	D	0	.	18.0965	0.89492	0.0:1.0:0.0:0.0	.	398;398;398	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	T	398	ENSP00000380517:A398T;ENSP00000434821:A398T;ENSP00000452493:A398T;ENSP00000267383:A398T	ENSP00000267383:A398T	A	-	1	0	CDH24	22592579	1.000000	0.71417	0.218000	0.23776	0.425000	0.31504	7.383000	0.79741	2.804000	0.96469	0.655000	0.94253	GCG		0.632	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		T	23522739	C	T	23522739	3	4	61	1	0	0	0	0	1	0	0	0	3109	768	27	1	1295	1	CDH24	14	23522739	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		23522739	83826801	52	6070											
EXOC5	10640	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr14	57675499	57675499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagagtatcaaaaagaTgtaataccattggaatctga	17	10	8	6	0	2	3	1	1	1	2	2	4	2	4	1	1	2	3	1	1	6	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr14:57675499T>C	ENST00000413566.2	-	18	2314	c.1955A>G	c.(1954-1956)cAt>cGt	p.H652R	EXOC5_ENST00000340918.7_Missense_Mutation_p.H587R	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	652					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCAAAAAGATGTAATACCAT	0.343																																						.											0													45	44	44					14																	57675499		1835	4072	5907	SO:0001583	missense	10640			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1955A>G	14.37:g.57675499T>C	ENSP00000389934:p.His652Arg		B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070861	0.55539	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.40476	1.04;1.03	5.54	5.54	0.83059	.	0.050800	0.85682	D	0.000000	T	0.25717	0.0626	N	0.08118	0	0.48901	D	0.999727	B;B	0.11235	0.001;0.004	B;B	0.16722	0.003;0.016	T	0.07635	-1.0762	10	0.22706	T	0.39	-6.9907	15.6841	0.77396	0.0:0.0:0.0:1.0	.	587;652	F8W9B8;O00471	.;EXOC5_HUMAN	R	652;587	ENSP00000389934:H652R;ENSP00000342100:H587R	ENSP00000342100:H587R	H	-	2	0	EXOC5	56745252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.103000	0.63969	0.477000	0.44152	CAT		0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		C	57675499	T	C	57675499	3	2	61	1	0	0	0	0	1	0	0	0	5307	1464	51	4	175	4	EXOC5	14	57675499	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10	34152760	57675499	49674041	53	6071											
C14orf135	64430	broad.mit.edu	37	chr14	60581861	60581861	+	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	ctaaggatttacccagtggtCcggaaaaacatttttcatgg	12	12	9	8	1	1	0	1	0	0	0	2	2	2	2	2	4	2	0	2	4	4	5			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr14:60581861C>T	ENST00000406854.1	+	4	1593	c.1039C>T	c.(1039-1041)Ccg>Tcg	p.P347S	PCNXL4_ENST00000404681.2_Missense_Mutation_p.P347S|PCNXL4_ENST00000317623.4_Missense_Mutation_p.P113S|PCNXL4_ENST00000406949.1_Missense_Mutation_p.P113S			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	347						integral component of membrane (GO:0016021)											ACCCAGTGGTCCGGAAAAACA	0.383																																						.											0													142	124	130					14																	60581861		1841	4086	5927	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1039C>T	14.37:g.60581861C>T	ENSP00000384801:p.Pro347Ser		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	C	0.715	-0.785530	0.02907	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.21932	1.99;1.99;1.98;1.99	5.4	1.81	0.25067	.	.	.	.	.	T	0.05686	0.0149	N	0.00801	-1.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40776	-0.9545	9	0.09338	T	0.73	.	8.6417	0.33981	0.0:0.3241:0.0:0.6759	.	347;113	Q63HM2;B5MC47	CN135_HUMAN;.	S	113;347;113;347	ENSP00000317396:P113S;ENSP00000384801:P347S;ENSP00000385201:P113S;ENSP00000385713:P347S	ENSP00000317396:P113S	P	+	1	0	C14orf135	59651614	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.548000	0.23314	0.445000	0.26639	-0.379000	0.06801	CCG		0.383	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		T	60581861	C	T	60581861	3	4	61	1	0	0	0	0	1	0	0	0	1745	855	30	3	343	3	C14orf135	14	60581861	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10	2906362	60581861	46767679	54	6072											
FAM174B	400451	mdanderson.org	37	chr15	93198687	93198688	+	Missense_Mutation	DNP	GA	GA	CC																															cgccactgctgttggagctgGagctgccgctgccgcccgcc																								rs200080757		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr15:93198687_93198688GA>CC	ENST00000327355.5	-	1	500_501	c.202_203TC>GG	c.(202-204)TCc>GGc	p.S68G	FAM174B_ENST00000555696.1_5'Flank|FAM174B_ENST00000555748.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	68				Missing (in Ref. 1; BAC11703 and 3; AAH60873). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						GTTGGAGCTGGAGCTGCCGCTG	0.723																																						.											0																																										SO:0001583	missense	400451				CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.202_203delinsCC	15.37:g.93198687_93198688delinsCC	ENSP00000329040:p.Ser68Gly		Q3ZCR9|Q8NBH7	Missense_Mutation	DNP	ENST00000327355.5	37	CCDS45355.1																																																																																				0.723	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		CC	93198688	GA	CC	93198687	3	2	61	1	0	0	0	0	1	0	0	0	5496	1174	41	5	288	5	FAM174B	15	93198687	Missense_Mutation	DNP	GA	TCGA-KO-8411-01A-11D-2310-10		93198687	9332705	55	6073											
CFDP1	10428	broad.mit.edu	37	chr16	75448501	75448501	+	Frame_Shift_Del	DEL	T	T	-																															tggaatgctctgggcctttcTttttttcccttgggttttct																										TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr16:75448501delT	ENST00000283882.3	-	2	289	c.157delA	c.(157-159)agafs	p.R53fs	RP11-77K12.1_ENST00000567194.1_Frame_Shift_Del_p.R110fs|RP11-77K12.1_ENST00000561887.1_Intron|CFDP1_ENST00000564286.1_5'UTR	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	53	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TGGGCCTTTCTTTTTTTCCCT	0.443																																						.											0													210	192	198					16																	75448501		2198	4300	6498	SO:0001589	frameshift_variant	10428			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"Bucentaur", "centromere protein 29"	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.157delA	16.37:g.75448501delT	ENSP00000283882:p.Arg53fs		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Frame_Shift_Del	DEL	ENST00000283882.3	37	CCDS10916.1																																																																																				0.443	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		-	75448501	T	-	75448501	7	5	61	1	0	1	0	1	0	0	0	0	3282	1617	56	0	766	0	CFDP1	16	75448501	Frame_Shift_Del	DEL	T	TCGA-KO-8411-01A-11D-2310-10		75448501	14906252	56	6074											
BPTF	2186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr17	65960371	65960371	+	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	gtcagaattggtaccatgggCgctgcgttggcatcttgcaa	8	11	13	9	2	2	1	1	0	1	1	2	1	2	1	1	3	3	5	1	3	3	4			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr17:65960371C>T	ENST00000321892.4	+	27	8744	c.8683C>T	c.(8683-8685)Cgc>Tgc	p.R2895C	BPTF_ENST00000335221.5_Missense_Mutation_p.R2752C|BPTF_ENST00000306378.6_Missense_Mutation_p.R2769C|BPTF_ENST00000424123.3_Missense_Mutation_p.R2613C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2895					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTACCATGGGCGCTGCGTTGG	0.463																																						.											0													149	141	144					17																	65960371		2203	4300	6503	SO:0001583	missense	2186			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.8683C>T	17.37:g.65960371C>T	ENSP00000315454:p.Arg2895Cys		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	16.81	3.225135	0.58668	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	D;D;D	0.84873	-1.91;-1.91;-1.91	5.91	5.91	0.95273	.	.	.	.	.	D	0.93844	0.8031	M	0.86573	2.825	0.80722	D	1	B;P;D;D	0.89917	0.44;0.714;1.0;1.0	B;B;D;D	0.87578	0.122;0.271;0.998;0.998	D	0.93970	0.7248	9	0.87932	D	0	-5.0974	20.3011	0.98612	0.0:1.0:0.0:0.0	.	100;573;2769;2752	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	C	2769;2752;2895;100	ENSP00000307208:R2769C;ENSP00000334351:R2752C;ENSP00000315454:R2895C	ENSP00000307208:R2769C	R	+	1	0	BPTF	63390833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.809000	0.96659	0.555000	0.69702	CGC		0.463	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65960371	C	T	65960371	3	4	61	1	0	0	0	0	1	0	0	0	1495	768	27	1	8789	1	BPTF	17	65960371	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		65960371	15234839	57	6075											
ONECUT2	9480	hgsc.bcm.edu;ucsc.edu	37	chr18	55143925	55143925	+	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	ctgagcacagggggctcctcGtccacctccagcacgtgtac	7	7	11	16	2	0	1	0	1	0	0	4	1	3	1	4	2	3	4	4	2	1	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr18:55143925G>A	ENST00000491143.2	+	2	1517	c.1485G>A	c.(1483-1485)tcG>tcA	p.S495S		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	495					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)		GGGGCTCCTCGTCCACCTCCA	0.552																																						.											0													29	32	31					18																	55143925		2068	4222	6290	SO:0001819	synonymous_variant	9480			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.1485G>A	18.37:g.55143925G>A				Silent	SNP	ENST00000491143.2	37	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	8.243	0.807355	0.16467	.	.	ENSG00000119547	ENST00000481727	.	.	.	5.9	-3.69	0.04450	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37079	-0.9721	4	.	.	.	-11.4231	1.3888	0.02246	0.3881:0.1988:0.2581:0.1549	.	.	.	.	I	124	.	.	V	+	1	0	ONECUT2	53294923	0.000000	0.05858	0.835000	0.33067	0.998000	0.95712	-2.337000	0.01104	-0.394000	0.07727	0.650000	0.86243	GTC		0.552	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			A	55143925	G	A	55143925	2	1	61	1	0	0	0	0	0	0	0	1	10869	1132	40	1		1	ONECUT2	18	55143925	Silent	SNP	G	TCGA-KO-8411-01A-11D-2310-10		55143925	22933323	58	6076											
POLRMT	5442	mdanderson.org	37	chr19	622336	622336	+	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	gggcctcgggcgcccccagcTcctcccagtactgccgcggc	3	5	13	20	4	0	0	0	0	0	0	3	0	2	0	6	3	3	2	6	3	1	1	rs2238549	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:622336T>G	ENST00000588649.2	-	9	1748	c.1664A>C	c.(1663-1665)gAg>gCg	p.E555A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	555			E -> A (in dbSNP:rs2238549).		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)		CGCCCCCAGCTCCTCCCAGTA	0.736													G|||	3107	0.620407	0.7421	0.3905	5008	,	,		13238	0.5804		0.505	False		,,,				2504	0.7791					.											0								G	ALA/GLU	2180,1784		674,832,476	3	4	4		1664	0.8	0.2	19	dbSNP_98	4	3162,4714		735,1692,1511	no	missense	POLRMT	NM_005035.3	107	1409,2524,1987	GG,GT,TT		40.1473,45.005,45.1182	benign	555/1231	622336	5342,6498	1982	3938	5920	SO:0001583	missense	5442				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.1664A>C	19.37:g.622336T>G	ENSP00000465759:p.Glu555Ala		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	1206	0.5521978021978022	355	0.7215447154471545	157	0.43370165745856354	311	0.5437062937062938	383	0.5052770448548812	.	0.101	-1.151710	0.01700	0.54995	0.401473	ENSG00000099821	ENST00000215591	T	0.38887	1.11	4.15	0.782	0.18567	.	1.028080	0.07721	N	0.943661	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39563	-0.9608	9	0.07175	T	0.84	-7.4541	3.713	0.08427	0.2656:0.0:0.3311:0.4033	rs2238549;rs60424827	555	O00411	RPOM_HUMAN	A	555	ENSP00000215591:E555A	ENSP00000215591:E555A	E	-	2	0	POLRMT	573336	0.000000	0.05858	0.177000	0.23020	0.499000	0.33736	0.188000	0.17018	-0.062000	0.13088	-0.217000	0.12591	GAG		0.736	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		G	622336	T	G	622336	3	3	61	1	0	0	0	0	1	0	0	0	12238	1551	54	5	2080	5	POLRMT	19	622336	Missense_Mutation	SNP	T	TCGA-KO-8411-01A-11D-2310-10		622336	58506647	59	6077											
ADAMTSL5	339366	bcgsc.ca	37	chr19	1506881	1506881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtagcgctcccgagggAgccagaactcaaactcgatg	10	6	13	12	3	1	1	1	0	0	1	3	4	2	2	2	2	4	3	2	2	3	1			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:1506881A>G	ENST00000413997.2	-	10	928	c.929T>C	c.(928-930)cTc>cCc	p.L310P	ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.L300P|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.L69P			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	310						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)		CTCCCGAGGGAGCCAGAACTC	0.697																																						.											0													19	25	24					19																	1506881		1819	3754	5573	SO:0001583	missense	339366			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.929T>C	19.37:g.1506881A>G	ENSP00000399364:p.Leu310Pro		B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37		.	.	.	.	.	.	.	.	.	.	A	18.89	3.719079	0.68844	.	.	ENSG00000185761	ENST00000413997;ENST00000330475;ENST00000395467	T;T;T	0.56941	0.43;0.43;0.43	4.05	4.05	0.47172	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000002	T	0.70692	0.3253	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72459	-0.4287	10	0.48119	T	0.1	.	9.3042	0.37865	1.0:0.0:0.0:0.0	.	310;300	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	P	310;300;69	ENSP00000399364:L310P;ENSP00000327608:L300P;ENSP00000378850:L69P	ENSP00000327608:L300P	L	-	2	0	ADAMTSL5	1457881	1.000000	0.71417	0.996000	0.52242	0.787000	0.44495	6.470000	0.73558	1.702000	0.51228	0.397000	0.26171	CTC		0.697	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		G	1506881	A	G	1506881	3	3	61	1	0	0	0	0	1	0	0	0	278	304	11	2	528	2	ADAMTSL5	19	1506881	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	884545	1506881	57622102	60	6078											
MUC16	94025	mdanderson.org	37	chr19	8999421	8999421	+	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	agagactgtccctgtccaggGtgtaggggcccagctcagtg	7	8	15	11	0	1	1	1	0	0	1	3	2	3	1	3	3	1	2	3	3	1	1	rs75266616		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:8999421G>C	ENST00000397910.4	-	56	40957	c.40754C>G	c.(40753-40755)aCc>aGc	p.T13585S	MUC16_ENST00000380951.5_Missense_Mutation_p.T226S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13587	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGTCCAGGGTGTAGGGGCC	0.567																																						.											0													247	206	219					19																	8999421		2072	4221	6293	SO:0001583	missense	94025			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.40754C>G	19.37:g.8999421G>C	ENSP00000381008:p.Thr13585Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.18|12.18	1.861742|1.861742	0.32884|0.32884	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.24538	.|1.85;1.85	3.48|3.48	1.25|1.25	0.21368|0.21368	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.35740|0.35740	0.0942|0.0942	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.48911	.|0.114;0.917	.|B;D	.|0.63488	.|0.031;0.915	T|T	0.40403|0.40403	-0.9565|-0.9565	3|7	.|0.30854	.|T	.|0.27	.|.	4.5034|4.5034	0.11876|0.11876	0.1321:0.2319:0.6359:0.0|0.1321:0.2319:0.6359:0.0	.|.	.|21230;13585	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	A|S	425|13585;226	.|ENSP00000381008:T13585S;ENSP00000370338:T226S	.|ENSP00000370338:T226S	P|T	-|-	1|2	0|0	MUC16|MUC16	8860421|8860421	0.991000|0.991000	0.36638|0.36638	0.997000|0.997000	0.53966|0.53966	0.497000|0.497000	0.33675|0.33675	0.218000|0.218000	0.17622|0.17622	0.783000|0.783000	0.33636|0.33636	0.555000|0.555000	0.69702|0.69702	CCC|ACC		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8999421	G	C	8999421	3	2	61	1	0	0	0	0	1	0	0	0	9973	1261	44	5	2885	5	MUC16	19	8999421	Missense_Mutation	SNP	G	TCGA-KO-8411-01A-11D-2310-10	7492540	8999421	50129562	61	6079											
ZC3H4	23211	mdanderson.org	37	chr19	47575243	47575243	+	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	ggcatgtctgcgtgcatgtcTgcgtgcatgtcagggtgcat	5	12	15	9	2	3	0	1	0	2	0	3	0	3	0	0	2	5	4	0	2	0	0	rs392366		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:47575243T>A	ENST00000253048.5	-	13	1975	c.1938A>T	c.(1936-1938)gcA>gcT	p.A646A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	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)		cgtgcatgtctgcgtgcatgt	0.662																																						.											0								C		1,4247		0,1,2123	31	36	34		1938	-10.4	0	19	dbSNP_80	34	6,8510		0,6,4252	no	coding-synonymous	ZC3H4	NM_015168.1		0,7,6375	AA,AT,TT		0.0705,0.0235,0.0548		646/1304	47575243	7,12757	2124	4258	6382	SO:0001819	synonymous_variant	23211			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.1938A>T	19.37:g.47575243T>A			Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																				0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			A	47575243	T	A	47575243	2	1	61	1	0	0	0	0	0	0	0	1	17567	1567	55	5		5	ZC3H4	19	47575243	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10	38575822	47575243	11553740	62	6080											
ZNF836	162962	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	52660555	52660555	+	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	ttttctacatcctcttgactAtgttgacctcttttaccatt	7	20	3	11	0	3	2	0	2	3	0	4	2	4	2	3	0	2	1	3	0	3	9			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:52660555A>G	ENST00000322146.8	-	5	902	c.381T>C	c.(379-381)caT>caC	p.H127H	ZNF836_ENST00000597252.1_Silent_p.H127H|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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						CCTCTTGACTATGTTGACCTC	0.333																																						.											0													115	108	111					19																	52660555		1986	4198	6184	SO:0001819	synonymous_variant	162962			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.381T>C	19.37:g.52660555A>G				Silent	SNP	ENST00000322146.8	37	CCDS46162.1																																																																																				0.333	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		G	52660555	A	G	52660555	2	3	61	1	0	0	0	0	0	0	0	1	18184	446	16	4		4	ZNF836	19	52660555	Silent	SNP	A	TCGA-KO-8411-01A-11D-2310-10	5085312	52660555	6468428	63	6081											
VN1R4	317703	mdanderson.org	37	chr19	53770825	53770825	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcacccagtgcagtaaaAggagagataatggagaagaa	17	5	12	7	0	0	3	0	0	0	3	0	6	0	4	2	2	2	3	2	2	5	2	rs141780644		TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr19:53770825A>G	ENST00000311170.4	-	1	147	c.94T>C	c.(94-96)Ttt>Ctt	p.F32L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	32					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTGCAGTAAAAGGAGAGATAA	0.507										HNSCC(26;0.072)																												.											0													55	60	58					19																	53770825		2203	4300	6503	SO:0001583	missense	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.94T>C	19.37:g.53770825A>G	ENSP00000310856:p.Phe32Leu		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	A	3.164	-0.171426	0.06421	.	.	ENSG00000228567	ENST00000311170	T	0.34072	1.38	2.28	-3.47	0.04753	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30575	N	0.009335	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25676	-1.0125	10	0.02654	T	1	.	1.5772	0.02626	0.1176:0.3229:0.2328:0.3268	.	32	Q7Z5H5	VN1R4_HUMAN	L	32	ENSP00000310856:F32L	ENSP00000310856:F32L	F	-	1	0	VN1R4	58462637	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.898000	0.04105	-0.609000	0.05724	-3.182000	0.00056	TTT		0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		G	53770825	A	G	53770825	3	3	61	1	0	0	0	0	1	0	0	0	17177	72	3	2	814	2	VN1R4	19	53770825	Missense_Mutation	SNP	A	TCGA-KO-8411-01A-11D-2310-10	1110270	53770825	5358158	64	6082											
ADAMTS1	9510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr21	28216883	28216883	+	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	ggcagccgagctgggatcgcCattcacggtgccggagtaga	8	6	16	11	4	1	1	1	0	0	1	2	4	1	3	3	4	3	3	3	4	1	2			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr21:28216883C>T	ENST00000284984.3	-	1	845	c.391G>A	c.(391-393)Ggc>Agc	p.G131S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	131					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTGGGATCGCCATTCACGGTG	0.697											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													15	17	17					21																	28216883		2197	4298	6495	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.391G>A	21.37:g.28216883C>T	ENSP00000284984:p.Gly131Ser	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340968	0.41498	.	.	ENSG00000154734	ENST00000284984	T	0.09255	3.0	4.16	3.26	0.37387	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.14356	0.0347	L	0.58302	1.8	0.47698	D	0.999493	B	0.18968	0.032	B	0.30943	0.122	T	0.04333	-1.0959	9	0.24483	T	0.36	.	13.7507	0.62906	0.0:0.6866:0.3134:0.0	.	131	Q9UHI8	ATS1_HUMAN	S	131	ENSP00000284984:G131S	ENSP00000284984:G131S	G	-	1	0	ADAMTS1	27138754	0.932000	0.31603	0.559000	0.28332	0.430000	0.31655	1.404000	0.34623	0.935000	0.37341	0.555000	0.69702	GGC		0.697	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			T	28216883	C	T	28216883	3	4	61	1	0	0	0	0	1	0	0	0	255	594	21	4	2548	4	ADAMTS1	21	28216883	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		28216883	19913012	65	6083											
KRTAP10-10	353333	mdanderson.org	37	chr21	46057625	46057625	+	Silent	SNP	T	T	C																															cagcaggcctgctgtgtgccTgtctgctgtgtgcccgtctg																								rs66931310|rs56249559|rs55677560	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr21:46057625T>C	ENST00000380095.1	+	1	353	c.291T>C	c.(289-291)ccT>ccC	p.P97P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	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						gctgtgtgcctgtctgctgtg	0.622																																						.											0													82	79	80					21																	46057625		2132	4094	6226	SO:0001819	synonymous_variant	353333			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.291T>C	21.37:g.46057625T>C				Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																				0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057625	T	C	46057625	2	2	61	1	0	0	0	0	0	0	0	1	8506	1567	55	2		2	KRTAP10-10	21	46057625	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10	17840742	46057625	2072270	66	6084	164	2									
KRTAP10-10	353333	mdanderson.org	37	chr21	46057634	46057634	+	Silent	SNP	T	T	C																															tgctgtgtgcctgtctgctgTgtgcccgtctgctgcgtgcc																								rs61029972	byFrequency	TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chr21:46057634T>C	ENST00000380095.1	+	1	362	c.300T>C	c.(298-300)tgT>tgC	p.C100C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	100	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						ctgtctgctgtgtgcccgtct	0.632													C|||	539	0.107628	0.2383	0.0591	5008	,	,		18755	0.0109		0.0557	False		,,,				2504	0.1186					.											0													126	121	123					21																	46057634		2203	4298	6501	SO:0001819	synonymous_variant	353333			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.300T>C	21.37:g.46057634T>C				Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																				0.632	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057634	T	C	46057634	2	2	61	1	0	0	0	0	0	0	0	1	8506	1702	59	2		2	KRTAP10-10	21	46057634	Silent	SNP	T	TCGA-KO-8411-01A-11D-2310-10	9	46057634	2072261	67	6085	164	2									
CXorf36	79742	bcgsc.ca	37	chrX	45010908	45010908	+	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	accagcccttcagaacttatCgttatatttgcaatctgggt	10	14	7	10	1	2	1	1	0	1	1	3	1	2	1	2	1	3	2	2	1	5	5			TCGA-KO-8411-01A-11D-2310-10	TCGA-KO-8411-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9dfcbabf-2bc0-43a2-bdde-d0b2aaca3f6b	7f8f088d-0cab-4301-8a5d-9e780d18439b	g.chrX:45010908C>T	ENST00000398000.2	-	5	1365	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	431						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CAGAACTTATCGTTATATTTG	0.527																																						.											0													95	84	88					X																	45010908		1568	3582	5150	SO:0001583	missense	79742			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.1291G>A	X.37:g.45010908C>T	ENSP00000381086:p.Asp431Asn		A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053779	0.55218	.	.	ENSG00000147113	ENST00000398000	T	0.36520	1.25	5.24	4.38	0.52667	.	0.404164	0.23272	N	0.050001	T	0.36635	0.0974	M	0.67953	2.075	0.80722	D	1	B	0.26845	0.161	B	0.19391	0.025	T	0.22661	-1.0210	10	0.72032	D	0.01	.	11.4036	0.49885	0.0:0.914:0.0:0.086	.	431	Q9H7Y0	CX036_HUMAN	N	431	ENSP00000381086:D431N	ENSP00000381086:D431N	D	-	1	0	CXorf36	44895852	0.997000	0.39634	0.684000	0.30055	0.530000	0.34684	2.903000	0.48711	0.996000	0.38943	0.594000	0.82650	GAT		0.527	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		T	45010908	C	T	45010908	3	4	61	1	0	0	0	0	1	0	0	0	4106	884	31	1	14	1	CXorf36	23	45010908	Missense_Mutation	SNP	C	TCGA-KO-8411-01A-11D-2310-10		45010908	110259652	68	6086											
NBPF10	100132406	ucsc.edu	37	chr1	145302775	145302775	+	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	tccaggccctcctcactccgTatgagccggacaagtcccag	8	7	9	17	2	1	1	1	1	0	0	5	2	5	2	6	2	1	1	6	2	2	1	rs376014420		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr1:145302775T>G	ENST00000369339.3	+	5	653	c.400T>G	c.(400-402)Tat>Gat	p.Y134D	NBPF10_ENST00000369338.1_Missense_Mutation_p.Y134D|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y405D|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	405						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)		CCTCACTCCGTATGAGCCGGA	0.577																																						.											0																																										SO:0001583	missense	100132406			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.400T>G	1.37:g.145302775T>G	ENSP00000358345:p.Tyr134Asp		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	0	-2.664813	0.00107	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.46063	0.88;4.33	0.712	-0.91	0.10511	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.02654	T	1	.	.	.	.	.	134	A8MQ30	.	D	330;134;134;405	ENSP00000358344:Y134D;ENSP00000345684:Y405D	ENSP00000345684:Y405D	Y	+	1	0	NBPF10	144014132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	-1.158000	0.02811	-1.371000	0.01190	TAT		0.577	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145302775	T	G	145302775	3	3	62	1	0	0	0	0	1	0	0	0	10193	1638	57	5	1243	5	NBPF10	1	145302775	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10		145302775	103947846	1	6087											
FAM163A	148753	broad.mit.edu	37	chr1	179782953	179782953	+	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	gcggaaccgaggttgcagacGaggaggaggagcgggagcac	11	2	20	8	4	0	1	0	0	0	1	0	8	0	6	1	6	4	3	1	6	1	1			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr1:179782953G>A	ENST00000341785.4	+	5	529	c.133G>A	c.(133-135)Gag>Aag	p.E45K	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	45						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						GGTTGCAGACGAGGAGGAGGA	0.642																																						.											0													51	46	48					1																	179782953		2203	4300	6503	SO:0001583	missense	148753			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.133G>A	1.37:g.179782953G>A	ENSP00000354891:p.Glu45Lys		A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654145	0.67472	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.63	4.63	0.57726	.	0.524877	0.22200	N	0.063250	T	0.43700	0.1259	L	0.36672	1.1	0.47407	D	0.999414	D	0.52996	0.957	B	0.38880	0.284	T	0.52071	-0.8624	9	0.52906	T	0.07	-5.0697	17.4521	0.87595	0.0:0.0:1.0:0.0	.	45	Q96GL9	F163A_HUMAN	K	45	.	ENSP00000354891:E45K	E	+	1	0	FAM163A	178049576	0.999000	0.42202	0.964000	0.40570	0.559000	0.35586	3.571000	0.53841	2.293000	0.77203	0.462000	0.41574	GAG		0.642	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		A	179782953	G	A	179782953	3	1	62	1	0	0	0	0	1	0	0	0	5476	1059	37	1	139	1	FAM163A	1	179782953	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10	34480178	179782953	69467668	2	6088											
SMEK2	57223	bcgsc.ca	37	chr2	55842601	55842601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgcctgttgtttctgatAtgcagtatttggatttatct	7	20	8	6	0	2	1	0	1	2	0	2	2	2	2	1	1	2	4	1	1	3	8			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr2:55842601A>G	ENST00000345102.5	-	2	485	c.184T>C	c.(184-186)Tat>Cat	p.Y62H	SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000272313.5_Missense_Mutation_p.Y62H|SMEK2_ENST00000407823.3_Missense_Mutation_p.Y62H|RP11-554J4.1_ENST00000608113.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	62	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGTTTCTGATATGCAGTATTT	0.308																																						.											0													92	96	95					2																	55842601		2201	4299	6500	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.184T>C	2.37:g.55842601A>G	ENSP00000339769:p.Tyr62His		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322473	0.81580	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.46063	0.88;0.88;0.88	5.4	5.4	0.78164	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	H	0.95114	3.625	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	0.83441	0.0043	10	0.87932	D	0	-9.6523	15.4274	0.75065	1.0:0.0:0.0:0.0	.	62;62;62	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	H	62	ENSP00000272313:Y62H;ENSP00000385912:Y62H;ENSP00000339769:Y62H	ENSP00000272313:Y62H	Y	-	1	0	SMEK2	55696105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.507000	0.90522	2.061000	0.61500	0.528000	0.53228	TAT		0.308	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		G	55842601	A	G	55842601	3	3	62	1	0	0	0	0	1	0	0	0	14794	449	16	4	2429	4	SMEK2	2	55842601	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10		55842601	187356772	3	6089											
ATG9A	79065	bcgsc.ca	37	chr2	220085850	220085850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccatgcagggcagtggTctcaggagctccaggccggg	6	5	16	14	1	1	0	1	0	1	0	3	1	2	1	4	5	2	3	4	5	0	0			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr2:220085850T>C	ENST00000409618.1	-	14	2759	c.2320A>G	c.(2320-2322)Acc>Gcc	p.T774A	ATG9A_ENST00000409422.1_Missense_Mutation_p.T713A|ABCB6_ENST00000265316.3_5'Flank|ABCB6_ENST00000439002.2_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.T774A|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000396761.2_Missense_Mutation_p.T774A			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	774					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGCAGTGGTCTCAGGAGCT	0.647																																						.											0													21	23	22					2																	220085850		1892	4098	5990	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.2320A>G	2.37:g.220085850T>C	ENSP00000386710:p.Thr774Ala		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735244	0.48939	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.3	5.3	0.74995	.	0.320888	0.33813	N	0.004532	T	0.51907	0.1702	N	0.24115	0.695	0.37355	D	0.91096	B	0.06786	0.001	B	0.06405	0.002	T	0.51403	-0.8710	10	0.10902	T	0.67	-18.9449	9.84	0.40993	0.0:0.076:0.0:0.924	.	774	Q7Z3C6	ATG9A_HUMAN	A	774;774;774;713	ENSP00000379983:T774A;ENSP00000386710:T774A;ENSP00000355173:T774A;ENSP00000386535:T713A	ENSP00000355173:T774A	T	-	1	0	ATG9A	219794094	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.652000	0.37313	2.225000	0.72522	0.482000	0.46254	ACC		0.647	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		C	220085850	T	C	220085850	3	2	62	1	0	0	0	0	1	0	0	0	1102	1667	58	2	211	2	ATG9A	2	220085850	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	164243249	220085850	23113523	4	6090											
PRR21	643905	mdanderson.org	37	chr2	240981515	240981515	+	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	agggccgtgggtgaagaggcAtggacgaagggccgtgggtg	8	5	22	6	3	0	2	0	1	0	1	0	4	0	3	2	6	0	1	2	6	2	0	rs59139800	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr2:240981515A>G	ENST00000408934.1	-	1	884	c.885T>C	c.(883-885)caT>caC	p.H295H		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	295	Pro-rich.									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						GTGAAGAGGCATGGACGAAGG	0.637													a|||	2084	0.416134	0.4463	0.379	5008	,	,		14987	0.5754		0.334	False		,,,				2504	0.3221					.											0													7	5	5					2																	240981515		1341	2643	3984	SO:0001819	synonymous_variant	643905			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.885T>C	2.37:g.240981515A>G				Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																				0.637	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240981515	A	G	240981515	2	3	62	1	0	0	0	0	0	0	0	1	12592	214	8	4		4	PRR21	2	240981515	Silent	SNP	A	TCGA-KO-8413-01A-11D-2310-10	20895665	240981515	2217858	5	6091											
COL8A1	1295	broad.mit.edu;mdanderson.org	37	chr3	99514923	99514923	+	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	tcagaacaggctgcaggactGtatgccgggcagtatgtcca	10	8	13	10	1	1	1	1	0	0	1	2	2	2	2	2	3	3	5	2	3	3	2			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr3:99514923G>A	ENST00000261037.3	+	5	2558	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	COL8A1_ENST00000273342.4_Silent_p.L726L	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	726	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CTGCAGGACTGTATGCCGGGC	0.473																																						.											0													35	35	35					3																	99514923		2203	4300	6503	SO:0001819	synonymous_variant	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2178G>A	3.37:g.99514923G>A			D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	CCDS2934.1																																																																																				0.473	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		A	99514923	G	A	99514923	2	1	62	1	0	0	0	0	0	0	0	1	3705	1364	48	4		4	COL8A1	3	99514923	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10		99514923	98507507	6	6092											
GPR78	27201	mdanderson.org	37	chr4	8583312	8583312	+	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	gtgcaccgggtggcacgcagAcactgccagcgcatggacac	9	4	14	14	3	0	1	0	0	0	1	0	2	0	2	2	3	3	4	2	3	0	0	rs17844778	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:8583312A>C	ENST00000382487.4	+	1	1020	c.603A>C	c.(601-603)agA>agC	p.R201S	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	201			R -> S (in dbSNP:rs17844778).		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						TGGCACGCAGACACTGCCAGC	0.692													C|||	752	0.15016	0.0295	0.2161	5008	,	,		16947	0.0248		0.3231	False		,,,				2504	0.2178					.											0								C	SER/ARG	308,4022		19,270,1876	8	8	8		603	1.6	0	4	dbSNP_123	8	2619,5825		429,1761,2032	yes	missense	GPR78	NM_080819.2	110	448,2031,3908	CC,CA,AA		31.0161,7.1132,22.9137	benign	201/364	8583312	2927,9847	2165	4222	6387	SO:0001583	missense	27201			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.603A>C	4.37:g.8583312A>C	ENSP00000371927:p.Arg201Ser		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	353	0.16163003663003664	28	0.056910569105691054	91	0.2513812154696133	8	0.013986013986013986	226	0.29815303430079154	C	0.020	-1.434012	0.01108	0.071132	0.310161	ENSG00000155269	ENST00000382487	T	0.40756	1.02	2.53	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.236614	0.34291	N	0.004095	T	0.00012	0.0000	N	0.01048	-1.04	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.44003	-0.9356	9	0.19147	T	0.46	.	9.2648	0.37634	0.3897:0.6103:0.0:0.0	rs17844778	201	Q96P69	GPR78_HUMAN	S	201	ENSP00000371927:R201S	ENSP00000371927:R201S	R	+	3	2	GPR78	8634212	0.998000	0.40836	0.000000	0.03702	0.067000	0.16453	0.463000	0.21972	-0.378000	0.07918	-0.648000	0.03929	AGA		0.692	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			C	8583312	A	C	8583312	3	2	62	1	0	0	0	0	1	0	0	0	6710	272	10	5	605	5	GPR78	4	8583312	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10		8583312	182570964	7	6093											
MAP9	79884	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	156294336	156294336	+	Missense_Mutation	SNP	T	T	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	tctgggtttaggtttcatttTtattttgtctttttcaaatt	6	25	6	4	0	4	0	2	0	2	0	4	0	4	0	0	2	0	2	0	2	3	11			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:156294336T>C	ENST00000311277.4	-	4	696	c.433A>G	c.(433-435)Aaa>Gaa	p.K145E	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K145E|MAP9_ENST00000379248.2_Missense_Mutation_p.K73E	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	145					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GGTTTCATTTTTATTTTGTCT	0.303																																						.											0													43	45	44					4																	156294336		2202	4300	6502	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.433A>G	4.37:g.156294336T>C	ENSP00000310593:p.Lys145Glu		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774899	0.31411	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.35421	2.14;2.15;1.41;1.31	5.84	-1.67	0.08238	.	0.700052	0.14170	N	0.336772	T	0.30262	0.0759	L	0.52364	1.645	0.09310	N	1	B;P;B;B	0.51537	0.001;0.946;0.01;0.01	B;P;B;B	0.45639	0.004;0.488;0.006;0.006	T	0.18808	-1.0325	10	0.66056	D	0.02	-4.9641	4.9297	0.13910	0.0:0.2786:0.2805:0.4409	.	145;73;145;145	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	E	145;145;145;145;73	ENSP00000310593:K145E;ENSP00000427402:K145E;ENSP00000394048:K145E;ENSP00000368550:K73E	ENSP00000310593:K145E	K	-	1	0	MAP9	156513786	0.000000	0.05858	0.000000	0.03702	0.583000	0.36354	0.003000	0.13083	-0.184000	0.10567	0.455000	0.32223	AAA		0.303	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		C	156294336	T	C	156294336	3	2	62	1	0	0	0	0	1	0	0	0	9270	1850	64	4	1554	4	MAP9	4	156294336	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	147711024	156294336	34859940	8	6094											
FRG1	2483	mdanderson.org	37	chr4	190876287	190876287	+	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	aattggaccaagagaacaatGggaaccagtctttcaaaatg	17	8	9	7	0	2	1	1	0	1	1	2	4	2	3	2	2	2	0	2	2	7	2	rs113079586		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:190876287G>A	ENST00000226798.4	+	5	635	c.413G>A	c.(412-414)tGg>tAg	p.W138*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	138					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAGAACAATGGGAACCAGTC	0.348																																						.											0													85	85	85					4																	190876287		2203	4300	6503	SO:0001587	stop_gained	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.413G>A	4.37:g.190876287G>A	ENSP00000226798:p.Trp138*		A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	37	6.190454	0.97362	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	4.04	4.04	0.47022	.	0.054165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.9237	14.145	0.65344	0.0:0.0:1.0:0.0	.	.	.	.	X	138;75	.	ENSP00000226798:W138X	W	+	2	0	FRG1	191113281	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.226000	0.72277	1.964000	0.57103	0.567000	0.79289	TGG		0.348	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190876287	G	A	190876287	4	1	62	1	0	0	0	0	0	1	0	0	6046	1357	47	4	431	4	FRG1	4	190876287	Nonsense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10	34581951	190876287	277989	9	6095			1	53		3	3	2318	G		7.263727e-06
FRG1	2483	mdanderson.org	37	chr4	190876307	190876307	+	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	gggaaccagtctttcaaaatGtaagtgctgttattgtttat	11	16	9	5	0	2	0	1	0	1	0	2	1	2	1	1	1	2	4	1	1	6	6	rs200854715		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:190876307G>A	ENST00000226798.4	+	5	654		c.e5+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTTTCAAAATGTAAGTGCTGT	0.328																																						.											0													74	74	74					4																	190876307		2202	4295	6497	SO:0001630	splice_region_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.432+1G>A	4.37:g.190876307G>A			A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	18.80	3.700931	0.68501	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7779	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191113301	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.413000	0.80104	1.879000	0.54435	0.567000	0.79289	.		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron	A	190876307	G	A	190876307	5	1	62	1	0	0	0	0	0	0	1	0	6046	1391	48	4	451	4	FRG1	4	190876307	Splice_Site	SNP	G	TCGA-KO-8413-01A-11D-2310-10	20	190876307	277969	10	6096			1	53		3	3	2318	G		7.263727e-06
FRG1	2483	mdanderson.org	37	chr4	190878604	190878604	+	Missense_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	gctttattagatgcaatgaaGcaggggacatagaagcaaaa	17	8	11	5	0	0	3	0	1	0	2	0	4	0	4	0	2	3	4	0	2	8	4	rs371189769		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr4:190878604G>A	ENST00000226798.4	+	6	706	c.484G>A	c.(484-486)Gca>Aca	p.A162T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	162					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGCAATGAAGCAGGGGACAT	0.383																																						.											0													36	36	36					4																	190878604		2184	4280	6464	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.484G>A	4.37:g.190878604G>A	ENSP00000226798:p.Ala162Thr		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689550	0.29962	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.42900	1.94;0.96	4.19	4.19	0.49359	Actin cross-linking (1);	0.268853	0.42821	D	0.000657	T	0.36110	0.0955	L	0.47716	1.5	0.31376	N	0.679557	B	0.27951	0.195	B	0.30716	0.119	T	0.35001	-0.9806	10	0.14656	T	0.56	-21.4303	14.4711	0.67517	0.0:0.0:1.0:0.0	.	162	Q14331	FRG1_HUMAN	T	162;34;99	ENSP00000226798:A162T;ENSP00000435943:A99T	ENSP00000226798:A162T	A	+	1	0	FRG1	191115598	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	4.336000	0.59304	2.063000	0.61619	0.454000	0.30748	GCA		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190878604	G	A	190878604	3	1	62	1	0	0	0	0	1	0	0	0	6046	971	34	4	506	4	FRG1	4	190878604	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10	2297	190878604	275672	11	6097			1	53		3	3	2318	G		7.263727e-06
HCN1	348980	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	45267264	45267264	+	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	ggatattcctccaggacctcGttgaaattgtccacggaaag	11	10	10	10	2	0	1	0	1	0	0	4	4	3	4	4	3	0	1	4	3	3	4	rs141455774	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr5:45267264G>A	ENST00000303230.4	-	7	1767	c.1710C>T	c.(1708-1710)aaC>aaT	p.N570N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570					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						CCAGGACCTCGTTGAAATTGT	0.428																																						.											0								G		4,4402	8.1+/-20.4	0,4,2199	156	143	147		1710	1.9	1	5	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous	HCN1	NM_021072.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		570/891	45267264	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	348980			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.1710C>T	5.37:g.45267264G>A				Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																				0.428	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45267264	G	A	45267264	2	1	62	1	0	0	0	0	0	0	0	1	6996	1136	40	1		1	HCN1	5	45267264	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10		45267264	135647996	12	6098											
HLA-DQA2	3118	mdanderson.org	37	chr6	32714125	32714125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgtcttcatcatccAaggcctgcgttcagttggtg	6	12	12	11	1	4	0	3	0	1	0	5	0	5	0	2	3	1	3	2	3	1	3	rs200904145	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr6:32714125A>G	ENST00000374940.3	+	4	824	c.722A>G	c.(721-723)cAa>cGa	p.Q241R		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	241					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)|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)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTCATCATCCAAGGCCTGCGT	0.522																																						.											0													155	152	153					6																	32714125		1511	2709	4220	SO:0001583	missense	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.722A>G	6.37:g.32714125A>G	ENSP00000364076:p.Gln241Arg		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.026763	0.00041	.	.	ENSG00000237541	ENST00000374940	T	0.01705	4.68	3.06	-6.13	0.02118	.	0.616827	0.14885	N	0.292732	T	0.00178	0.0005	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28235	-1.0050	10	0.07813	T	0.8	.	5.6461	0.17590	0.6481:0.1299:0.222:0.0	.	241	P01906	DQA2_HUMAN	R	241	ENSP00000364076:Q241R	ENSP00000364076:Q241R	Q	+	2	0	HLA-DQA2	32822103	0.051000	0.20477	0.067000	0.19924	0.023000	0.10783	-0.431000	0.06965	-1.761000	0.01310	-1.188000	0.01700	CAA		0.522	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		G	32714125	A	G	32714125	3	3	62	1	0	0	0	0	1	0	0	0	7205	130	5	4	736	4	HLA-DQA2	6	32714125	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10		32714125	138400942	13	6099											
C6orf170	221322	ucsc.edu	37	chr6	121436334	121436334	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctgacagtcattttaaTgccaagctgctgcacagatg	12	11	8	10	0	1	2	1	1	0	1	1	2	1	2	2	0	5	3	2	0	3	3	rs201909100		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr6:121436334T>C	ENST00000398212.2	-	27	3086	c.3037A>G	c.(3037-3039)Att>Gtt	p.I1013V	TBC1D32_ENST00000275159.6_Missense_Mutation_p.I1054V|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1013					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)										GTCATTTTAATGCCAAGCTGC	0.343													T|||	1	0.000199681	8e-04	0	5008	,	,		16598	0		0	False		,,,				2504	0					.											0													104	97	99					6																	121436334		1828	4102	5930	SO:0001583	missense	221322			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.3037A>G	6.37:g.121436334T>C	ENSP00000381270:p.Ile1013Val		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	3.083	-0.188580	0.06299	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.16073	2.37;2.37	5.73	2.05	0.26809	.	0.221573	0.48286	N	0.000192	T	0.02571	0.0078	N	0.13327	0.33	0.27263	N	0.958571	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.46652	-0.9176	10	0.20519	T	0.43	.	9.4136	0.38507	0.0:0.3515:0.0:0.6485	.	1054;1013	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	V	1054;1013	ENSP00000275159:I1054V;ENSP00000381270:I1013V	ENSP00000275159:I1054V	I	-	1	0	C6orf170	121478033	0.828000	0.29307	0.988000	0.46212	0.995000	0.86356	0.119000	0.15626	0.177000	0.19895	0.533000	0.62120	ATT		0.343	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		C	121436334	T	C	121436334	3	2	62	1	0	0	0	0	1	0	0	0	2344	1464	51	4	760	4	C6orf170	6	121436334	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	88722209	121436334	49678733	14	6100											
UTRN	7402	bcgsc.ca	37	chr6	145110379	145110379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaagattggattaatgTctctctccaaaggtctcttg	9	15	9	8	0	4	2	0	1	4	1	7	3	4	3	1	2	0	0	1	2	3	3			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr6:145110379T>C	ENST00000367545.3	+	61	8884	c.8884T>C	c.(8884-8886)Tct>Cct	p.S2962P	UTRN_ENST00000367526.4_Missense_Mutation_p.S517P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2962	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)		TGGATTAATGTCTCTCTCCAA	0.299																																						.											0													131	150	143					6																	145110379		2203	4299	6502	SO:0001583	missense	7402			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.8884T>C	6.37:g.145110379T>C	ENSP00000356515:p.Ser2962Pro		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961973	0.74016	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.64085	-0.08;-0.08	5.96	3.45	0.39498	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.123946	0.36972	N	0.002309	T	0.59649	0.2209	M	0.83852	2.665	0.34582	D	0.714609	P	0.43231	0.801	P	0.47299	0.543	T	0.64989	-0.6277	10	0.42905	T	0.14	.	13.0868	0.59146	0.0:0.0:0.2518:0.7481	.	2962	P46939	UTRO_HUMAN	P	2962;517	ENSP00000356515:S2962P;ENSP00000356496:S517P	ENSP00000356496:S517P	S	+	1	0	UTRN	145152072	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.917000	0.63369	1.051000	0.40369	0.533000	0.62120	TCT		0.299	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			C	145110379	T	C	145110379	3	2	62	1	0	0	0	0	1	0	0	0	17100	1667	58	2	9126	2	UTRN	6	145110379	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	23674045	145110379	26004688	15	6101											
TBP	6908	mdanderson.org	37	chr6	170871040	170871040	+	Silent	SNP	A	A	G																															cagcagcagcagcagcagcaAcagcaacagcagcagcagca																								rs71815788|rs55736770	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000540980.1_Silent_p.Q52Q|TBP_ENST00000230354.6_Silent_p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	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)	p.Q72del(3)		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)		agcagcagcaacagcaacagc	0.567																																						.											3	Deletion - In frame(3)	ovary(1)|prostate(1)|breast(1)											12	14	13					6																	170871040		1995	3894	5889	SO:0001819	synonymous_variant	6908			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.216A>G	6.37:g.170871040A>G			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		G	170871040	A	G	170871040	2	3	62	1	0	0	0	0	0	0	0	1	15641	40	2	2		2	TBP	6	170871040	Silent	SNP	A	TCGA-KO-8413-01A-11D-2310-10	25760661	170871040	244027	16	6102	165	2									
TBP	6908	mdanderson.org	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A																															cagcagcagcagcagcaacaGcaacagcagcagcagcagca																										TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	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)	p.Q73Q(1)		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)		agcagcaacagcaacagcagc	0.562																																						.											1	Substitution - coding silent(1)	endometrium(1)											17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908			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.219G>A	6.37:g.170871043G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871043	G	A	170871043	2	1	62	1	0	0	0	0	0	0	0	1	15641	962	34	4		4	TBP	6	170871043	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10	3	170871043	244024	17	6103	165	2									
MUC17	140453	mdanderson.org	37	chr7	100678935	100678935	+	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	gccggtagtcagttctgaggCtagcaccctttcagcaactc	8	10	10	13	1	3	1	2	1	1	0	4	1	3	1	2	2	3	5	2	2	3	4	rs116960680		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr7:100678935C>T	ENST00000306151.4	+	3	4302	c.4238C>T	c.(4237-4239)gCt>gTt	p.A1413V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1413	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)					AGTTCTGAGGCTAGCACCCTT	0.507																																						.											0													271	276	274					7																	100678935		2203	4300	6503	SO:0001583	missense	140453			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.4238C>T	7.37:g.100678935C>T	ENSP00000302716:p.Ala1413Val		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.228	-0.376848	0.05000	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.838	-1.68	0.08212	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.06405	0.002	T	0.49103	-0.8974	9	0.16896	T	0.51	.	2.1924	0.03903	0.0:0.2679:0.3208:0.4112	.	1413	Q685J3	MUC17_HUMAN	V	1413	ENSP00000302716:A1413V	ENSP00000302716:A1413V	A	+	2	0	MUC17	100465655	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.179000	0.16840	-0.919000	0.03803	0.134000	0.15878	GCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678935	C	T	100678935	3	4	62	1	0	0	0	0	1	0	0	0	9974	797	28	4	4248	4	MUC17	7	100678935	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10		100678935	58459728	18	6104											
SERPINE1	5054	hgsc.bcm.edu;ucsc.edu	37	chr7	100780310	100780310	+	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	gtctcagcccgcatggccccCgaggagatcatcatggacag	9	6	12	14	2	3	1	3	0	1	1	4	4	3	2	3	3	1	1	3	3	0	0	rs550385890		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr7:100780310C>T	ENST00000223095.4	+	8	1273	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	SERPINE1_ENST00000445463.2_Silent_p.P357P	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	372					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|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 fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|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)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCATGGCCCCCGAGGAGATCA	0.582													C|||	1	0.000199681	0	0	5008	,	,		19048	0.001		0	False		,,,				2504	0					.											0													134	114	121					7																	100780310		2203	4300	6503	SO:0001819	synonymous_variant	5054			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1116C>T	7.37:g.100780310C>T			B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	CCDS5711.1																																																																																				0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		T	100780310	C	T	100780310	2	4	62	1	0	0	0	0	0	0	0	1	14111	639	23	1		1	SERPINE1	7	100780310	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10	101375	100780310	58358353	19	6105											
IRF5	3663	mdanderson.org	37	chr7	128587381	128587381	+	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	ccgcccactctgcggccgccTactctgcagccgcccactct	4	7	8	22	4	3	0	0	0	3	0	3	0	3	0	6	1	4	1	6	1	1	1	rs199508964|rs79724471|rs60344245	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr7:128587381T>C	ENST00000402030.2	+	6	603	c.531T>C	c.(529-531)ccT>ccC	p.P177P	IRF5_ENST00000477535.1_Intron|IRF5_ENST00000473745.1_Silent_p.P177P|IRF5_ENST00000357234.5_Silent_p.P193P|IRF5_ENST00000249375.4_Silent_p.P177P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	177					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)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCGGCCGCCTACTCTGCAGC	0.657																																						.											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)						T	,,,,	881,2925		144,593,1166	5	7	6		531,579,531,,531		0.1	7	dbSNP_131	6	1628,6000		358,912,2544	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	,,,,	502,1505,3710	CC,CT,TT		21.3424,23.1477,21.9433	,,,,	177/499,193/515,177/499,,177/499	128587381	2509,8925	1903	3814	5717	SO:0001819	synonymous_variant	3663				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.531T>C	7.37:g.128587381T>C			A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Silent	SNP	ENST00000402030.2	37	CCDS5808.1	740	0.33882783882783885	191	0.3882113821138211	85	0.23480662983425415	170	0.2972027972027972	294	0.38786279683377306	T	2.949	-0.217149	0.06101	0.231477	0.213424	ENSG00000128604	ENST00000430204	.	.	.	.	.	.	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	2.9999999999752447E-6	.	.	.	.	.	.	T	0.44667	-0.9313	1	.	.	.	.	.	.	.	.	166	E9PC81	.	P	166	.	.	L	+	2	0	IRF5	128374617	0.027000	0.19231	0.110000	0.21437	0.055000	0.15305	0.056000	0.14256	0.056000	0.16144	0.055000	0.15244	CTA		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		C	128587381	T	C	128587381	2	2	62	1	0	0	0	0	0	0	0	1	7833	1509	53	2		2	IRF5	7	128587381	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10	27807071	128587381	30551282	20	6106											
SDR16C5	195814	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr8	57224802	57224802	+	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	ctttttgcctgttacgattcCggcattgttgattaggatgg	6	17	11	7	2	0	1	0	1	0	0	1	3	1	2	2	3	2	3	2	3	2	7	rs199932397		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr8:57224802C>T	ENST00000303749.3	-	3	1016	c.379G>A	c.(379-381)Gga>Aga	p.G127R	SDR16C5_ENST00000522671.1_Missense_Mutation_p.G127R|SDR16C5_ENST00000396721.2_Intron	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	127					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GTTACGATTCCGGCATTGTTG	0.378																																						.											0								C	ARG/GLY	0,4406		0,0,2203	119	109	112		379	4.5	0.5	8		112	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SDR16C5	NM_138969.2	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	127/310	57224802	2,13004	2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.379G>A	8.37:g.57224802C>T	ENSP00000307607:p.Gly127Arg		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622111	0.87460	0.0	2.33E-4	ENSG00000170786	ENST00000303749;ENST00000522671;ENST00000538514	D;T	0.94758	-3.51;-0.2	5.41	4.53	0.55603	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99056	1.0829	10	0.87932	D	0	.	14.1141	0.65142	0.0:0.9276:0.0:0.0724	.	127;127	G3V145;Q8N3Y7	.;RDHE2_HUMAN	R	127	ENSP00000307607:G127R;ENSP00000431010:G127R	ENSP00000307607:G127R	G	-	1	0	SDR16C5	57387356	1.000000	0.71417	0.454000	0.27019	0.992000	0.81027	5.952000	0.70282	1.291000	0.44653	0.655000	0.94253	GGA		0.378	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		T	57224802	C	T	57224802	3	4	62	1	0	0	0	0	1	0	0	0	13971	661	23	1	570	1	SDR16C5	8	57224802	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10		57224802	89139220	21	6107											
VPS13B	157680	broad.mit.edu	37	chr8	100832274	100832274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaatgaatccaaatgggAcctctggctatttgaaggag	13	11	10	7	0	2	2	1	2	1	0	3	4	3	4	2	3	0	1	2	3	6	3			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr8:100832274A>G	ENST00000358544.2	+	49	9104	c.8993A>G	c.(8992-8994)gAc>gGc	p.D2998G	VPS13B_ENST00000357162.2_Missense_Mutation_p.D2973G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2998					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)			TCCAAATGGGACCTCTGGCTA	0.393																																					Colon(161;2205 2542 7338 31318)	.											0													124	129	127					8																	100832274		2203	4300	6503	SO:0001583	missense	157680			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.8993A>G	8.37:g.100832274A>G	ENSP00000351346:p.Asp2998Gly		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203194	0.79127	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.80480	-1.38;-1.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.85178	0.1002	10	0.54805	T	0.06	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	2973;2998	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	2973;2998	ENSP00000349685:D2973G;ENSP00000351346:D2998G	ENSP00000349685:D2973G	D	+	2	0	VPS13B	100901450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.255000	0.74692	0.533000	0.62120	GAC		0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100832274	A	G	100832274	3	3	62	1	0	0	0	0	1	0	0	0	17187	275	10	2	9377	2	VPS13B	8	100832274	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	43607472	100832274	45531748	22	6108											
UBR5	51366	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr8	103324629	103324629	+	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	gagagaagaagggtcagcatCtggaccagagctgttctgac	12	7	14	8	0	3	4	1	1	2	3	3	7	3	5	1	2	2	3	1	2	2	1			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr8:103324629C>G	ENST00000520539.1	-	17	2698	c.2092G>C	c.(2092-2094)Gat>Cat	p.D698H	UBR5_ENST00000220959.4_Missense_Mutation_p.D698H|UBR5_ENST00000521922.1_Missense_Mutation_p.D692H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	698					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)			GGGTCAGCATCTGGACCAGAG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	.											0													103	97	99					8																	103324629		2203	4300	6503	SO:0001583	missense	51366			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.2092G>C	8.37:g.103324629C>G	ENSP00000429084:p.Asp698His		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784670	0.70222	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.52057	0.68;0.68;0.68	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.65429	-0.6170	10	0.66056	D	0.02	.	18.7881	0.91963	0.0:1.0:0.0:0.0	.	692;698	E7EMW7;O95071	.;UBR5_HUMAN	H	698;698;692	ENSP00000429084:D698H;ENSP00000220959:D698H;ENSP00000427819:D692H	ENSP00000220959:D698H	D	-	1	0	UBR5	103393805	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.818000	0.86416	2.449000	0.82847	0.591000	0.81541	GAT		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		G	103324629	C	G	103324629	3	3	62	1	0	0	0	0	1	0	0	0	16902	913	32	5	6479	5	UBR5	8	103324629	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10	2492355	103324629	43039393	23	6109											
FRG2B	441581	mdanderson.org	37	chr10	135438933	135438933	+	Silent	SNP	C	C	T																															accaagctttttcgaattgaCggtgtttggactcctagggc																								rs200793608		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr10:135438933C>T	ENST00000425520.1	-	4	559	c.507G>A	c.(505-507)ccG>ccA	p.P169P	FRG2B_ENST00000443774.1_Silent_p.P170P	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	169						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		TTCGAATTGACGGTGTTTGGA	0.552																																						.											0													126	151	143					10																	135438933		2193	4291	6484	SO:0001819	synonymous_variant	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.507G>A	10.37:g.135438933C>T			Q5VSQ1	Silent	SNP	ENST00000425520.1	37	CCDS44502.1																																																																																				0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438933	C	T	135438933	2	4	62	1	0	0	0	0	0	0	0	1	6047	523	19	1		1	FRG2B	10	135438933	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10		135438933	95814	24	6110	166	2	2	54		3	2	29	N	C_A	4.612781e-05
FRG2B	441581	mdanderson.org	37	chr10	135438943	135438943	+	Missense_Mutation	SNP	A	A	T																															ttcgaattgacggtgtttggActcctagggcccgagaccta																								rs200701804		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr10:135438943A>T	ENST00000425520.1	-	4	549	c.497T>A	c.(496-498)gTc>gAc	p.V166D	FRG2B_ENST00000443774.1_Missense_Mutation_p.V167D	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	166						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		CGGTGTTTGGACTCCTAGGGC	0.557																																						.											0													125	151	142					10																	135438943		2192	4290	6482	SO:0001583	missense	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.497T>A	10.37:g.135438943A>T	ENSP00000401310:p.Val166Asp		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	2.998	-0.206630	0.06180	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.39997	1.05;1.05	.	.	.	.	1.677530	0.03603	N	0.233651	T	0.22666	0.0547	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.16748	-1.0392	8	0.34782	T	0.22	-0.1173	.	.	.	.	166	Q96QU4	FRG2B_HUMAN	D	167;166	ENSP00000408343:V167D;ENSP00000401310:V166D	ENSP00000401310:V166D	V	-	2	0	FRG2B	135288933	0.003000	0.15002	0.161000	0.22692	0.163000	0.22366	-0.691000	0.05133	0.103000	0.17682	0.102000	0.15555	GTC		0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438943	A	T	135438943	3	4	62	1	0	0	0	0	1	0	0	0	6047	275	10	5	342	5	FRG2B	10	135438943	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	10	135438943	95804	25	6111	166	2	2	54		3	2	29	N	C_A	4.612781e-05
FRG2B	441581	mdanderson.org	37	chr10	135438961	135438961	+	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	ggactcctagggcccgagacCtatgccgcttgctgcgccca	6	7	12	16	3	0	1	0	0	0	1	1	3	1	2	5	2	3	2	5	2	2	3	rs200048408	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr10:135438961C>T	ENST00000425520.1	-	4	531	c.479G>A	c.(478-480)aGg>aAg	p.R160K	FRG2B_ENST00000443774.1_Missense_Mutation_p.R161K	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		GGCCCGAGACCTATGCCGCTT	0.557																																						.											0													118	141	133					10																	135438961		2195	4299	6494	SO:0001583	missense	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.479G>A	10.37:g.135438961C>T	ENSP00000401310:p.Arg160Lys		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	7.703	0.693451	0.15039	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.50001	0.76;0.76	.	.	.	.	2.815140	0.01633	N	0.023649	T	0.33235	0.0856	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.09684	-1.0663	8	0.21014	T	0.42	-0.5686	.	.	.	.	160	Q96QU4	FRG2B_HUMAN	K	161;160	ENSP00000408343:R161K;ENSP00000401310:R160K	ENSP00000401310:R160K	R	-	2	0	FRG2B	135288951	0.009000	0.17119	0.133000	0.22050	0.135000	0.20990	0.259000	0.18405	0.119000	0.18210	0.121000	0.15741	AGG		0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135438961	C	T	135438961	3	4	62	1	0	0	0	0	1	0	0	0	6047	681	24	4	360	4	FRG2B	10	135438961	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10	18	135438961	95786	26	6112			2	54		3	2	29	N	C_A	4.612781e-05
CHID1	66005	broad.mit.edu	37	chr11	869923	869924	+	Frame_Shift_Ins	INS	-	-	C																															atagagaccccaacgcccagINSctcccgggccagctccagcc																										TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:869923_869924insC	ENST00000449825.1	-	13	1472_1473	c.1116_1117insG	c.(1114-1119)gagctgfs	p.L373fs	CHID1_ENST00000429789.2_Frame_Shift_Ins_p.L342fs|CHID1_ENST00000336845.5_Frame_Shift_Ins_p.L398fs|CHID1_ENST00000323578.8_Frame_Shift_Ins_p.L373fs|CHID1_ENST00000528581.1_Frame_Shift_Ins_p.L398fs|CHID1_ENST00000526714.1_5'Flank|CHID1_ENST00000454838.2_Frame_Shift_Ins_p.L398fs|CHID1_ENST00000323541.7_Frame_Shift_Ins_p.L403fs|CHID1_ENST00000436108.2_Frame_Shift_Ins_p.L373fs	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	373					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)		CCAACGCCCAGCTCCCGGGCCA	0.663																																					Pancreas(117;992 2327 5172 41921)	.											0																																										SO:0001589	frameshift_variant	66005			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.1117dupG	11.37:g.869924_869924dupC	ENSP00000391255:p.Leu373fs		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Frame_Shift_Ins	INS	ENST00000449825.1	37	CCDS7722.1																																																																																				0.663	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		C	869924	-	C	869923	7	5	62	1	0	1	1	0	0	0	0	0	3345	962	34	0	68	0	CHID1	11	869923	Frame_Shift_Ins	INS	-	TCGA-KO-8413-01A-11D-2310-10		869923	134136593	27	6113											
OR51T1	401665	broad.mit.edu;mdanderson.org	37	chr11	4903765	4903765	+	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	ctctacctgaatggcactgaCgtattgtttattcttttctc	7	18	6	10	1	3	2	0	2	3	0	4	2	3	2	1	1	1	3	1	1	4	8	rs138268565	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:4903765C>T	ENST00000322049.1	+	1	636	c.636C>T	c.(634-636)gaC>gaT	p.D212D	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.D239D|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, 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)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													c|||	2	0.000399361	0	0.0029	5008	,	,		22131	0		0	False		,,,				2504	0					.											0								T		0,4402		0,0,2201	115	106	109		717	-1.6	0.7	11	dbSNP_134	109	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	OR51T1	NM_001004759.1		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		239/355	4903765	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	401665			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.636C>T	11.37:g.4903765C>T			Q6IFH9	Silent	SNP	ENST00000322049.1	37																																																																																					0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		T	4903765	C	T	4903765	2	4	62	1	0	0	0	0	0	0	0	1	11106	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10	4033842	4903765	130102751	28	6114											
FOLH1	2346	mdanderson.org	37	chr11	49186293	49186293	+	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	tgtaccaagctgtacatcagCggtgtacaatcaactctcag	12	10	8	11	1	3	0	3	0	1	0	4	0	3	0	1	1	6	4	1	1	6	3	rs370741711		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000533034.1_Silent_p.P453P	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	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)	TGTACATCAGCGGTGTACAAT	0.284																																						.											0													41	42	42					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346			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.1404G>A	11.37:g.49186293C>T			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49186293	C	T	49186293	2	4	62	1	0	0	0	0	0	0	0	1	5979	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10	44282528	49186293	85820223	29	6115											
OR5M9	390162	broad.mit.edu	37	chr11	56230414	56230414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtccatagtgtgcatattAggctgacagagaatccatag	14	10	10	7	0	0	2	0	1	0	1	2	3	2	2	2	1	1	2	2	1	6	4			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:56230414A>G	ENST00000279791.1	-	1	463	c.464T>C	c.(463-465)cTa>cCa	p.L155P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	155						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(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGTGCATATTAGGCTGACAGA	0.458																																						.											0													94	96	96					11																	56230414		2201	4296	6497	SO:0001583	missense	390162			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.464T>C	11.37:g.56230414A>G	ENSP00000279791:p.Leu155Pro		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096068	0.36952	.	.	ENSG00000150269	ENST00000279791	T	0.00285	8.3	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37219	N	0.002191	T	0.00724	0.0024	M	0.92026	3.265	0.25397	N	0.988475	D	0.71674	0.998	D	0.76575	0.988	T	0.28808	-1.0032	10	0.66056	D	0.02	-3.3219	7.1803	0.25768	0.8977:0.0:0.1023:0.0	.	155	Q8NGP3	OR5M9_HUMAN	P	155	ENSP00000279791:L155P	ENSP00000279791:L155P	L	-	2	0	OR5M9	55986990	0.000000	0.05858	0.091000	0.20842	0.438000	0.31896	1.335000	0.33839	1.847000	0.53656	0.443000	0.29094	CTA		0.458	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		G	56230414	A	G	56230414	3	3	62	1	0	0	0	0	1	0	0	0	11177	420	15	2	470	2	OR5M9	11	56230414	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	7044121	56230414	78776102	30	6116											
MYO7A	4647	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr11	76924024	76924024	+	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	cggagccaaacttccctgagAtcctcctaattgccatcaac	11	9	6	15	1	1	1	1	1	0	1	4	3	4	2	5	1	4	0	5	1	3	3	rs539755538		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr11:76924024A>T	ENST00000409709.3	+	47	6654	c.6382A>T	c.(6382-6384)Atc>Ttc	p.I2128F	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.I2079F|MYO7A_ENST00000458637.2_Missense_Mutation_p.I2088F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2128	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						CTTCCCTGAGATCCTCCTAAT	0.517																																						.											0													86	73	77					11																	76924024		1938	4137	6075	SO:0001583	missense	4647			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.6382A>T	11.37:g.76924024A>T	ENSP00000386331:p.Ile2128Phe		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603818	0.46423	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	4.74	3.62	0.41486	FERM domain (1);Pleckstrin homology-type (1);	0.049218	0.85682	D	0.000000	T	0.73713	0.3622	M	0.65975	2.015	0.54753	D	0.999981	P;B	0.40909	0.732;0.413	P;B	0.48598	0.583;0.142	T	0.66999	-0.5781	10	0.17369	T	0.5	.	6.986	0.24729	0.7717:0.1495:0.0788:0.0	.	2088;2128	F8VUN5;Q13402	.;MYO7A_HUMAN	F	2128;2088;2079;1301;2127;2097;2004;1270	ENSP00000386331:I2128F;ENSP00000392185:I2088F;ENSP00000386635:I2079F;ENSP00000417017:I1270F	ENSP00000345075:I2004F	I	+	1	0	MYO7A	76601672	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.068000	0.57534	0.777000	0.33496	0.477000	0.44152	ATC		0.517	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76924024	A	T	76924024	3	4	62	1	0	0	0	0	1	0	0	0	10082	333	12	5	6598	5	MYO7A	11	76924024	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	20693610	76924024	58082492	31	6117											
PRB2	653247	hgsc.bcm.edu	37	chr12	11546874	11546874	+	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	ggagatgggggaccttgaggTttgttgcctccttgtggggg	4	12	19	6	0	0	2	0	1	0	1	1	4	1	3	3	6	1	2	3	6	0	4	rs534885201	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr12:11546874T>C	ENST00000389362.4	-	3	173	c.138A>G	c.(136-138)aaA>aaG	p.K46K	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	46						extracellular region (GO:0005576)		p.K46K(1)|p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACCTTGAGGTTTGTTGCCTC	0.532													C|||	2	0.000399361	0	0.0014	5008	,	,		17866	0.001		0	False		,,,				2504	0					.											3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	stomach(3)											126	141	136					12																	11546874		2156	4278	6434	SO:0001819	synonymous_variant	653247			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.138A>G	12.37:g.11546874T>C			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.532	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		C	11546874	T	C	11546874	2	2	62	1	0	0	0	0	0	0	0	1	12443	1722	60	2		2	PRB2	12	11546874	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10		11546874	122305021	32	6118											
NCOR2	9612	broad.mit.edu	37	chr12	124819113	124819113	+	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	tagaggggggcgggcaggggTgcgctgagctgctgtgggtg	4	7	24	6	2	0	2	0	1	0	1	0	2	0	2	0	7	3	4	0	7	1	1			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr12:124819113T>G	ENST00000405201.1	-	41	6462	c.6462A>C	c.(6460-6462)gcA>gcC	p.A2154A	NCOR2_ENST00000404621.1_Silent_p.A2144A|NCOR2_ENST00000429285.2_Silent_p.A2144A|NCOR2_ENST00000356219.3_Silent_p.A2161A|NCOR2_ENST00000404121.2_Silent_p.A1715A|NCOR2_ENST00000397355.1_Silent_p.A2145A			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2165					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)		CGGGCAGGGGTGCGCTGAGCT	0.692																																						.											0													6	9	8					12																	124819113		2041	4111	6152	SO:0001819	synonymous_variant	9612			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.6462A>C	12.37:g.124819113T>G			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	t	1.066	-0.671344	0.03403	.	.	ENSG00000196498	ENST00000443451	.	.	.	4.4	-6.49	0.01890	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.35397	D	0.791261	.	.	.	.	.	.	T	0.39722	-0.9600	4	.	.	.	-0.8161	2.2268	0.03986	0.1512:0.1274:0.3748:0.3466	.	.	.	.	P	27	.	.	H	-	2	0	NCOR2	123385066	0.008000	0.16893	0.012000	0.15200	0.049000	0.14656	-1.776000	0.01781	-1.142000	0.02869	-0.618000	0.04049	CAC		0.692	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		G	124819113	T	G	124819113	2	3	62	1	0	0	0	0	0	0	0	1	10236	1683	59	5		5	NCOR2	12	124819113	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10	113272239	124819113	9032782	33	6119											
MAP3K9	4293	broad.mit.edu	37	chr14	71206799	71206799	+	Frame_Shift_Del	DEL	A	A	-																															ggaatgatggtggggcttgcAggaggactggagcggctgtt																										TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr14:71206799delA	ENST00000554752.2	-	7	1649	c.1650delT	c.(1648-1650)cctfs	p.P550fs	MAP3K9_ENST00000553414.1_Frame_Shift_Del_p.P244fs|MAP3K9_ENST00000555993.2_Frame_Shift_Del_p.P550fs|MAP3K9_ENST00000381250.4_Frame_Shift_Del_p.P550fs|MAP3K9_ENST00000554146.1_Frame_Shift_Del_p.P287fs	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	550					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)		TGGGGCTTGCAGGAGGACTGG	0.552																																					GBM(114;411 1587 13539 28235 50070)	.											0													149	135	140					14																	71206799		2203	4300	6503	SO:0001589	frameshift_variant	4293			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.1650delT	14.37:g.71206799delA	ENSP00000451612:p.Pro550fs		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Frame_Shift_Del	DEL	ENST00000554752.2	37																																																																																					0.552	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			-	71206799	A	-	71206799	7	5	62	1	0	1	0	1	0	0	0	0	9257	175	7	0	1734	0	MAP3K9	14	71206799	Frame_Shift_Del	DEL	A	TCGA-KO-8413-01A-11D-2310-10		71206799	36142741	34	6120											
C14orf4	64207	broad.mit.edu	37	chr14	77493792	77493794	+	In_Frame_Del	DEL	TGT	TGT	-																															gctgctgctgctgctgctgcTgttgctgctgctgctgctgc																								rs377151545|rs28718623|rs71125518	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr14:77493792_77493794delTGT	ENST00000238647.3	-	1	1240_1242	c.342_344delACA	c.(340-345)caacag>cag	p.114_115QQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	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						ctgctgctgctgttgctgctgct	0.7																																						.											0										1119,1147		390,339,404						-1.3	0			2	2585,1523		1057,471,526	no	coding	IRF2BPL	NM_024496.2		1447,810,930	A1A1,A1R,RR		37.074,49.3822,41.8889				3704,2670				SO:0001651	inframe_deletion	64207			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.342_344delACA	14.37:g.77493792_77493794delTGT	ENSP00000238647:p.Gln127del		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	CCDS9854.1																																																																																				0.7	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		-	77493794	TGT	-	77493792	7	5	62	1	0	1	0	1	0	0	0	0	1773	1580	55	0	2050	0	C14orf4	14	77493792	In_Frame_Del	DEL	TGT	TCGA-KO-8413-01A-11D-2310-10	6286993	77493792	29855748	35	6121											
AHNAK2	113146	mdanderson.org	37	chr14	105415691	105415691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgctgaggtcagtggTcttcaggtccccctgcatgg	6	11	13	11	0	3	2	2	2	1	0	4	2	4	2	2	4	2	2	2	4	1	1	rs199921891		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr14:105415691T>C	ENST00000333244.5	-	7	6216	c.6097A>G	c.(6097-6099)Acc>Gcc	p.T2033A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2033						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)			AGGTCAGTGGTCTTCAGGTCC	0.662																																						.											0													111	80	90					14																	105415691		1929	4059	5988	SO:0001583	missense	113146			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.6097A>G	14.37:g.105415691T>C	ENSP00000353114:p.Thr2033Ala		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	4.415	0.076697	0.08485	.	.	ENSG00000185567	ENST00000333244	T	0.02916	4.11	3.87	1.35	0.21983	.	.	.	.	.	T	0.01627	0.0052	N	0.17345	0.48	0.09310	N	1	B	0.15141	0.012	B	0.21360	0.034	T	0.49312	-0.8953	9	0.07990	T	0.79	-38.0818	3.0595	0.06195	0.0:0.2131:0.2467:0.5403	.	2033	Q8IVF2	AHNK2_HUMAN	A	2033	ENSP00000353114:T2033A	ENSP00000353114:T2033A	T	-	1	0	AHNAK2	104486736	0.003000	0.15002	0.349000	0.25694	0.166000	0.22503	0.346000	0.19997	0.370000	0.24538	0.397000	0.26171	ACC		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415691	T	C	105415691	3	2	62	1	0	0	0	0	1	0	0	0	415	1667	58	2	11294	2	AHNAK2	14	105415691	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	27921899	105415691	1933849	36	6122											
GOLGA6D	653643	mdanderson.org	37	chr15	75586689	75586689	+	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	ccgcctccctctctccgaagTtttttatgaagtgagcctgg	6	13	9	13	2	1	2	0	2	1	0	4	3	3	2	5	1	1	1	5	1	3	3	rs201430576	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr15:75586689T>A	ENST00000434739.3	+	18	1996	c.1955T>A	c.(1954-1956)gTt>gAt	p.V652D	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	652						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CTCTCCGAAGTTTTTTATGAA	0.617													a|||	236	0.0471246	0.1157	0.0548	5008	,	,		15529	0.0298		0.002	False		,,,				2504	0.0133					.											0													8	15	13					15																	75586689		633	1578	2211	SO:0001630	splice_region_variant	653643				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.1955-1T>A	15.37:g.75586689T>A				Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.147222	0.00328	.	.	ENSG00000140478	ENST00000434739	T	0.19669	2.13	1.63	-0.857	0.10693	.	.	.	.	.	T	0.02649	0.0080	N	0.00062	-2.325	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	8	.	.	.	.	2.1621	0.03827	0.3879:0.0:0.3567:0.2555	.	652	P0CG33	GOG6D_HUMAN	D	652	ENSP00000391085:V652D	.	V	+	2	0	GOLGA6D	73373742	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.546000	0.23284	-0.743000	0.04784	-0.937000	0.02696	GTT		0.617	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224	Missense_Mutation	A	75586689	T	A	75586689	5	1	62	1	0	0	0	0	0	0	1	0	6560	1739	60	5	2025	5	GOLGA6D	15	75586689	Splice_Site	SNP	T	TCGA-KO-8413-01A-11D-2310-10		75586689	26944703	37	6123											
SMG1	23049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	18849726	18849726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctactccagttacacccaGtgctgtttcaatgttttgtg	7	17	7	10	0	2	0	1	0	1	0	3	0	3	0	2	0	3	4	2	0	3	6			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr16:18849726G>T	ENST00000446231.2	-	44	7559	c.7147C>A	c.(7147-7149)Ctg>Atg	p.L2383M	SMG1_ENST00000389467.3_Missense_Mutation_p.L2383M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2383	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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						GTTACACCCAGTGCTGTTTCA	0.373																																						.											0													198	183	188					16																	18849726		1884	4122	6006	SO:0001583	missense	23049			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.7147C>A	16.37:g.18849726G>T	ENSP00000402515:p.Leu2383Met		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068487	0.55539	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.81163	-1.46;-1.46	5.87	2.86	0.33363	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.53938	D	0.000051	T	0.77572	0.4150	N	0.25031	0.7	0.33860	D	0.633718	P	0.44380	0.834	P	0.55923	0.787	T	0.79055	-0.1960	10	0.32370	T	0.25	.	10.4288	0.44395	0.2602:0.0:0.7398:0.0	.	2383	Q96Q15	SMG1_HUMAN	M	2383	ENSP00000402515:L2383M;ENSP00000374118:L2383M	ENSP00000374118:L2383M	L	-	1	2	SMG1	18757227	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	2.877000	0.48506	0.485000	0.27652	0.655000	0.94253	CTG		0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18849726	G	T	18849726	3	4	62	1	0	0	0	0	1	0	0	0	14795	1020	36	5	3918	5	SMG1	16	18849726	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10		18849726	71505027	38	6124											
GPR139	124274	broad.mit.edu	37	chr16	20084858	20084858	+	Frame_Shift_Del	DEL	G	G	-																															ctgtagtagaccacgggcacGaaacccaagccgcaggccga																										TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr16:20084858delG	ENST00000570682.1	-	1	381	c.81delC	c.(79-81)ttcfs	p.F27fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	27					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGGCACGAAACCCAAGC	0.682																																						.											0													35	35	35					16																	20084858		2199	4299	6498	SO:0001589	frameshift_variant	124274			AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.81delC	16.37:g.20084858delG	ENSP00000458791:p.Phe27fs		A8K5R9|Q86SP2|Q8TDU8	Frame_Shift_Del	DEL	ENST00000570682.1	37	CCDS32398.1																																																																																				0.682	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		-	20084858	G	-	20084858	7	5	62	1	0	1	0	1	0	0	0	0	6648	1049	37	0	988	0	GPR139	16	20084858	Frame_Shift_Del	DEL	G	TCGA-KO-8413-01A-11D-2310-10	1235132	20084858	70269895	39	6125											
DDX19A	55308	broad.mit.edu	37	chr16	70405336	70405336	+	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	cttcccgtggacaaggacggGaatcctgacaatgagaccta	12	7	11	11	2	0	2	0	2	0	1	2	6	2	5	3	3	0	0	3	3	4	2			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr16:70405336G>A	ENST00000302243.7	+	11	1408	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	DDX19A_ENST00000417604.2_Silent_p.G384G|DDX19A_ENST00000443119.2_Silent_p.G325G	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	415	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				ACAAGGACGGGAATCCTGACA	0.557																																						.											0													57	52	54					16																	70405336		2197	4280	6477	SO:0001819	synonymous_variant	55308			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1245G>A	16.37:g.70405336G>A			B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	CCDS10889.1																																																																																				0.557	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		A	70405336	G	A	70405336	2	1	62	1	0	0	0	0	0	0	0	1	4346	1161	41	3		3	DDX19A	16	70405336	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10	50320478	70405336	19949417	40	6126											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr17	7578212	7578212	+	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	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs397516436		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	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;	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578212	G	A	7578212	4	1	62	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10		7578212	73616998	41	6127											
SNF8	11267	bcgsc.ca	37	chr17	47010703	47010703	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatggctctgatcaggTcatctctgaggtaaggaaga	10	12	12	7	0	5	4	2	3	3	1	6	5	5	5	0	4	0	2	0	4	2	2			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr17:47010703T>C	ENST00000502492.1	-	6	810	c.428A>G	c.(427-429)gAc>gGc	p.D143G	AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000290330.3_Missense_Mutation_p.D143G|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	143					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						TCTGATCAGGTCATCTCTGAG	0.502																																						.											0													162	141	148					17																	47010703		2203	4300	6503	SO:0001583	missense	11267			AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.428A>G	17.37:g.47010703T>C	ENSP00000421380:p.Asp143Gly		Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071558	0.55646	.	.	ENSG00000159210	ENST00000502492;ENST00000290330	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.93106	3.38	0.80722	D	1	D;D	0.54397	0.958;0.966	P;P	0.54856	0.649;0.762	D	0.87276	0.2289	9	0.87932	D	0	-32.4767	16.2903	0.82747	0.0:0.0:0.0:1.0	.	143;143	Q96H20-2;Q96H20	.;SNF8_HUMAN	G	143	.	ENSP00000290330:D143G	D	-	2	0	SNF8	44365702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.326000	0.78906	0.533000	0.62120	GAC		0.502	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241		C	47010703	T	C	47010703	3	2	62	1	0	0	0	0	1	0	0	0	14846	1667	58	2	360	2	SNF8	17	47010703	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	39432491	47010703	34184507	42	6128											
FAM100B	283991	mdanderson.org	37	chr17	74261677	74261677	+	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	cggccgaccaggcgaagcagTtgctgcaggcggcccactgg	7	4	16	14	4	0	0	0	0	0	0	0	2	0	0	3	5	3	4	3	5	1	1	rs2585751	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr17:74261677T>C	ENST00000327490.6	+	1	395	c.91T>C	c.(91-93)Ttg>Ctg	p.L31L	UBALD2_ENST00000589240.1_5'Flank	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	31																	GGCGAAGCAGTTGCTGCAGGC	0.766													C|||	3578	0.714457	0.8843	0.6412	5008	,	,		3805	0.7024		0.5547	False		,,,				2504	0.7137					.											0								C		3526,686		1494,538,74	10	12	11		91	2.6	1	17	dbSNP_100	11	4861,3485		1480,1901,792	no	coding-synonymous	FAM100B	NM_182565.3		2974,2439,866	CC,CT,TT		41.7565,16.2868,33.2139		31/165	74261677	8387,4171	2106	4173	6279	SO:0001819	synonymous_variant	283991				CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"family with sequence similarity 100, member B"	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.91T>C	17.37:g.74261677T>C				Silent	SNP	ENST00000327490.6	37	CCDS11742.1																																																																																				0.766	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		C	74261677	T	C	74261677	2	2	62	1	0	0	0	0	0	0	0	1	5379	1722	60	2		2	FAM100B	17	74261677	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10	27250974	74261677	6933533	43	6129											
ZNF521	25925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	22807259	22807259	+	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	tagaggacagaaacccacggCgacaaatggcacatttatat	16	7	9	9	2	0	2	0	0	0	2	0	4	0	3	1	3	1	1	1	3	5	4			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr18:22807259C>T	ENST00000361524.3	-	4	771	c.623G>A	c.(622-624)cGc>cAc	p.R208H	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R208H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	208					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAACCCACGGCGACAAATGGC	0.493			T	PAX5	ALL																																	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													88	83	85					18																	22807259		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.623G>A	18.37:g.22807259C>T	ENSP00000354794:p.Arg208His		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679010	0.29783	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.14893	2.47;2.47	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	N	0.16307	0.4	0.36028	D	0.839201	D	0.76494	0.999	D	0.66716	0.946	T	0.16630	-1.0396	10	0.87932	D	0	-41.7226	13.6203	0.62134	0.0:0.9294:0.0:0.0706	.	208	Q96K83	ZN521_HUMAN	H	208;242;208	ENSP00000354794:R208H;ENSP00000382352:R208H	ENSP00000354794:R208H	R	-	2	0	ZNF521	21061257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.743000	0.68655	2.838000	0.97847	0.655000	0.94253	CGC		0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22807259	C	T	22807259	3	4	62	1	0	0	0	0	1	0	0	0	17962	768	27	1	3332	1	ZNF521	18	22807259	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10		22807259	55269989	44	6130											
EPOR	2057	ucsc.edu	37	chr19	11488817	11488817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagagtcagataccacaAggtacaggtactttaggtgg	12	9	12	8	0	1	2	1	0	0	2	1	2	1	2	2	4	4	2	2	4	5	5			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:11488817A>G	ENST00000222139.6	-	8	1474	c.1370T>C	c.(1369-1371)cTt>cCt	p.L457P	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	457					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)	AGATACCACAAGGTACAGGTA	0.577											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													69	74	72					19																	11488817		2203	4300	6503	SO:0001583	missense	2057			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.1370T>C	19.37:g.11488817A>G	ENSP00000222139:p.Leu457Pro	672	B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977074	0.53720	.	.	ENSG00000187266	ENST00000222139	T	0.44482	0.92	4.82	4.82	0.62117	.	0.710381	0.13856	N	0.358052	T	0.50086	0.1595	L	0.32530	0.975	0.53688	D	0.999979	D	0.76494	0.999	D	0.70716	0.97	T	0.49113	-0.8973	10	0.87932	D	0	-36.5626	7.9588	0.30060	0.8174:0.0:0.0:0.1826	.	457	P19235	EPOR_HUMAN	P	457	ENSP00000222139:L457P	ENSP00000222139:L457P	L	-	2	0	EPOR	11349817	0.998000	0.40836	0.751000	0.31187	0.801000	0.45260	4.194000	0.58393	1.793000	0.52555	0.454000	0.30748	CTT		0.577	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			G	11488817	A	G	11488817	3	3	62	1	0	0	0	0	1	0	0	0	5189	72	3	2	160	2	EPOR	19	11488817	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10		11488817	47640166	45	6131											
MYH14	79784	ucsc.edu	37	chr19	50755954	50755954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccctctgaatgacaacgTcgcagccttgctccaccaga	10	7	9	15	2	1	3	0	2	1	1	3	4	2	4	4	1	3	2	4	1	2	1			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:50755954T>C	ENST00000596571.1	+	14	1865	c.1865T>C	c.(1864-1866)gTc>gCc	p.V622A	MYH14_ENST00000440075.2_Missense_Mutation_p.V630A|MYH14_ENST00000425460.1_Missense_Mutation_p.V630A|MYH14_ENST00000376970.2_Missense_Mutation_p.V622A|MYH14_ENST00000601313.1_Missense_Mutation_p.V630A|MYH14_ENST00000598205.1_Missense_Mutation_p.V630A|MYH14_ENST00000262269.8_Missense_Mutation_p.V630A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	622	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)		AATGACAACGTCGCAGCCTTG	0.587																																						.											0													50	51	51					19																	50755954		2183	4294	6477	SO:0001583	missense	79784			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.1865T>C	19.37:g.50755954T>C	ENSP00000472819:p.Val622Ala		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601434	0.66445	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.35	4.35	0.52113	Myosin head, motor domain (2);	.	.	.	.	D	0.92103	0.7497	M	0.76574	2.34	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.72075	0.953;0.976;0.959	D	0.92773	0.6234	9	0.87932	D	0	.	11.8047	0.52147	0.0:0.0:0.0:1.0	.	630;622;630	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	A	622;630;622;630;622;630	ENSP00000406273:V630A;ENSP00000366169:V622A;ENSP00000407879:V630A;ENSP00000262269:V630A	ENSP00000262269:V630A	V	+	2	0	MYH14	55447766	1.000000	0.71417	0.164000	0.22755	0.365000	0.29674	6.077000	0.71275	1.961000	0.56991	0.379000	0.24179	GTC		0.587	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		C	50755954	T	C	50755954	3	2	62	1	0	0	0	0	1	0	0	0	10033	1667	58	2	1947	2	MYH14	19	50755954	Missense_Mutation	SNP	T	TCGA-KO-8413-01A-11D-2310-10	39267137	50755954	8373029	46	6132											
ZNF808	388558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr19	53057816	53057816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtaacaaggttttcatGcgtaattcagtcctggctgt	8	16	10	7	1	2	0	2	0	0	0	3	0	3	0	1	2	2	5	1	2	3	6			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:53057816G>T	ENST00000359798.4	+	5	1827	c.1647G>T	c.(1645-1647)atG>atT	p.M549I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	549					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)		AGGTTTTCATGCGTAATTCAG	0.398																																						.											0													141	152	148					19																	53057816		2203	4300	6503	SO:0001583	missense	388558			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.1647G>T	19.37:g.53057816G>T	ENSP00000352846:p.Met549Ile		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.142	-1.101126	0.01843	.	.	ENSG00000198482	ENST00000359798	T	0.35048	1.33	1.51	-3.03	0.05429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11452	0.0279	N	0.02876	-0.465	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12708	-1.0537	9	0.30078	T	0.28	.	0.8882	0.01249	0.153:0.2176:0.318:0.3114	.	549	Q8N4W9	ZN808_HUMAN	I	549	ENSP00000352846:M549I	ENSP00000352846:M549I	M	+	3	0	ZNF808	57749628	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-10.447000	0.00006	-1.967000	0.01008	0.205000	0.17691	ATG		0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		T	53057816	G	T	53057816	3	4	62	1	0	0	0	0	1	0	0	0	18170	1319	46	5	1657	5	ZNF808	19	53057816	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10	2301862	53057816	6071167	47	6133											
ZNF587	84914	mdanderson.org	37	chr19	58371202	58371202	+	Silent	SNP	C	C	T																															gtatgtgggaaattatttggCaataagcacagcgtgactat																										TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:58371202C>T	ENST00000339656.5	+	3	1604	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Silent_p.G431G|ZNF587_ENST00000423137.1_Silent_p.G473G|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_5'Flank	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AATTATTTGGCAATAAGCACA	0.433																																					Pancreas(59;641 1233 1885 20055 50741)	.											0													154	150	151					19																	58371202		2203	4300	6503	SO:0001819	synonymous_variant	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1422C>T	19.37:g.58371202C>T			A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	CCDS12964.1																																																																																				0.433	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		T	58371202	C	T	58371202	2	4	62	1	0	0	0	0	0	0	0	1	18017	697	25	4		4	ZNF587	19	58371202	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10	5313386	58371202	757781	48	6134	167	3									
ZNF587	84914	mdanderson.org	37	chr19	58371209	58371209	+	Missense_Mutation	SNP	C	C	A																															ggaaattatttggcaataagCacagcgtgactatacatcag																										TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:58371209C>A	ENST00000339656.5	+	3	1611	c.1429C>A	c.(1429-1431)Cac>Aac	p.H477N	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H434N|ZNF587_ENST00000423137.1_Missense_Mutation_p.H476N|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_5'Flank	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	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)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TGGCAATAAGCACAGCGTGAC	0.423																																					Pancreas(59;641 1233 1885 20055 50741)	.											0													158	150	153					19																	58371209		2203	4300	6503	SO:0001583	missense	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1429C>A	19.37:g.58371209C>A	ENSP00000345479:p.His477Asn		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	6.087	0.384262	0.11524	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.13196	2.61;2.61;2.61	0.882	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	N	0.11106	0.095	0.23496	N	0.99756	B;B	0.15473	0.0;0.013	B;B	0.16289	0.0;0.015	T	0.27673	-1.0067	8	0.56958	D	0.05	.	5.9746	0.19371	0.0:0.4805:0.0:0.5195	.	476;477	G3V0H5;Q96SQ5	.;ZN587_HUMAN	N	434;476;477;477;434	ENSP00000393865:H476N;ENSP00000345479:H477N;ENSP00000406999:H434N	ENSP00000345479:H477N	H	+	1	0	ZNF587	63063021	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-1.806000	0.01735	-0.644000	0.05465	0.195000	0.17529	CAC		0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		A	58371209	C	A	58371209	3	1	62	1	0	0	0	0	1	0	0	0	18017	710	25	5	1439	5	ZNF587	19	58371209	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10	7	58371209	757774	49	6135	167	3									
ZNF587	84914	mdanderson.org	37	chr19	58371212	58371212	+	Missense_Mutation	SNP	A	A	T																															aattatttggcaataagcacAgcgtgactatacatcagagg																										TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr19:58371212A>T	ENST00000339656.5	+	3	1614	c.1432A>T	c.(1432-1434)Agc>Tgc	p.S478C	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.S435C|ZNF587_ENST00000423137.1_Missense_Mutation_p.S477C|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_5'Flank	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CAATAAGCACAGCGTGACTAT	0.423																																					Pancreas(59;641 1233 1885 20055 50741)	.											0													156	149	152					19																	58371212		2203	4300	6503	SO:0001583	missense	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1432A>T	19.37:g.58371212A>T	ENSP00000345479:p.Ser478Cys		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	7.068	0.567735	0.13560	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.08008	3.14;3.14;3.14	0.882	-0.521	0.11931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	M	0.64630	1.985	0.24750	N	0.992985	B;B	0.27140	0.169;0.025	B;B	0.29598	0.104;0.033	T	0.20773	-1.0265	8	0.38643	T	0.18	.	4.8451	0.13510	0.7267:0.0:0.0:0.2733	.	477;478	G3V0H5;Q96SQ5	.;ZN587_HUMAN	C	435;477;478;478;435	ENSP00000393865:S477C;ENSP00000345479:S478C;ENSP00000406999:S435C	ENSP00000345479:S478C	S	+	1	0	ZNF587	63063024	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-2.794000	0.00765	-0.256000	0.09473	0.164000	0.16699	AGC		0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		T	58371212	A	T	58371212	3	4	62	1	0	0	0	0	1	0	0	0	18017	188	7	5	1442	5	ZNF587	19	58371212	Missense_Mutation	SNP	A	TCGA-KO-8413-01A-11D-2310-10	3	58371212	757771	50	6136	167	3									
LAMA5	3911	mdanderson.org	37	chr20	60887581	60887581	+	Missense_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	gcctccggtggggaagagccGtcgcaggctgtggggaagcg	6	5	20	10	4	0	1	0	0	0	1	2	3	1	3	3	6	2	2	3	6	2	0	rs944895	byFrequency	TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chr20:60887581G>A	ENST00000252999.3	-	68	9301	c.9235C>T	c.(9235-9237)Cgg>Tgg	p.R3079W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3079	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> W (in dbSNP:rs944895). {ECO:0000269|PubMed:11821406, ECO:0000269|PubMed:9271224, ECO:0000269|PubMed:9628581}.		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)			GGGAAGAGCCGTCGCAGGCTG	0.677													.|||	3391	0.677117	0.5666	0.6988	5008	,	,		15366	0.7411		0.6431	False		,,,				2504	0.7802					.											0									TRP/ARG	2500,1886	594.1+/-388.1	703,1094,396	31	29	30		9235	3.4	0.1	20	dbSNP_86	30	5600,2988	634.2+/-398.8	1810,1980,504	yes	missense	LAMA5	NM_005560.3	101	2513,3074,900	AA,AG,GG		34.7927,43.0005,37.5674	probably-damaging	3079/3696	60887581	8100,4874	2193	4294	6487	SO:0001583	missense	3911			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.9235C>T	20.37:g.60887581G>A	ENSP00000252999:p.Arg3079Trp		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	1458	0.6675824175824175	280	0.5691056910569106	257	0.7099447513812155	425	0.743006993006993	496	0.6543535620052771	g	9.192	1.026390	0.19512	0.569995	0.652073	ENSG00000130702	ENST00000252999	T	0.78481	-1.18	4.36	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.920180	0.02454	N	0.085827	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.58620	0.983	P	0.47376	0.545	T	0.48547	-0.9026	9	0.72032	D	0.01	.	3.2954	0.06964	0.0954:0.1438:0.5475:0.2134	rs944895;rs58677971;rs944895	3079	O15230	LAMA5_HUMAN	W	3079	ENSP00000252999:R3079W	ENSP00000252999:R3079W	R	-	1	2	LAMA5	60320976	0.000000	0.05858	0.064000	0.19789	0.038000	0.13279	-0.605000	0.05661	2.269000	0.75478	0.556000	0.70494	CGG		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60887581	G	A	60887581	3	1	62	1	0	0	0	0	1	0	0	0	8609	1144	40	1	1904	1	LAMA5	20	60887581	Missense_Mutation	SNP	G	TCGA-KO-8413-01A-11D-2310-10		60887581	2137939	51	6137											
FRMPD4	9758	broad.mit.edu	37	chrX	12735002	12735002	+	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	tccttgaacatggccattgcCgcacccccacctggctttag	7	10	8	16	1	0	1	0	1	0	0	1	1	1	1	6	2	2	2	6	2	2	4			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chrX:12735002C>T	ENST00000380682.1	+	15	2930	c.2424C>T	c.(2422-2424)gcC>gcT	p.A808A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	808					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						TGGCCATTGCCGCACCCCCAC	0.547																																						.											0													152	114	127					X																	12735002		2203	4300	6503	SO:0001819	synonymous_variant	9758			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.2424C>T	X.37:g.12735002C>T			A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.547	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		T	12735002	C	T	12735002	2	4	62	1	0	0	0	0	0	0	0	1	6059	639	23	1		1	FRMPD4	23	12735002	Silent	SNP	C	TCGA-KO-8413-01A-11D-2310-10		12735002	142535558	52	6138											
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-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	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																																					NSCLC(90;1817 2035 37909 38249)	.											8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)											52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685			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			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	10726	991	35	4		4	NUDT10	23	51076024	Silent	SNP	G	TCGA-KO-8413-01A-11D-2310-10	38341022	51076024	104194536	53	6139											
BRWD3	254065	broad.mit.edu	37	chrX	79932729	79932729	+	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	gtggataaatgagatttctcTtttgtttcttttttctcttt	6	24	6	5	0	3	1	0	1	3	1	5	3	3	2	0	1	0	1	0	1	2	9			TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chrX:79932729T>C	ENST00000373275.4	-	41	5004	c.4788A>G	c.(4786-4788)aaA>aaG	p.K1596K	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1596			K -> E (in MRX93; may be a rare polymorphism). {ECO:0000269|PubMed:17668385}.		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						GAGAtttctcttttgtttctt	0.408																																						.											0													72	64	66					X																	79932729		2203	4300	6503	SO:0001819	synonymous_variant	254065				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.4788A>G	X.37:g.79932729T>C			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	CCDS14447.1																																																																																				0.408	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		C	79932729	T	C	79932729	2	2	62	1	0	0	0	0	0	0	0	1	1526	1606	56	2		2	BRWD3	23	79932729	Silent	SNP	T	TCGA-KO-8413-01A-11D-2310-10	28856705	79932729	75337831	54	6140											
SPANXD	64648	broad.mit.edu;mdanderson.org	37	chrX	140785755	140785755	+	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	ttttaaagttcctcctgtagCgaaccactagtatggtcgag	10	13	9	9	2	0	0	0	0	0	0	3	2	2	0	3	1	2	3	3	1	6	6	rs368985448		TCGA-KO-8413-01A-11D-2310-10	TCGA-KO-8413-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	a5a92196-b322-4ea4-8446-1844057de50b	9da1b142-030b-472b-861e-25be9ab226f3	g.chrX:140785755C>T	ENST00000370515.3	-	2	494	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R54H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CCTCCTGTAGCGAACCACTAG	0.483																																						.											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						C	HIS/ARG	0,3834		0,0,1632,570	232	175	194		161		0	X		194	1,6715		0,1,2427,1860	no	missense	SPANXD	NM_032417.2	29	0,1,4059,2430	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	54/98	140785755	1,10549	2202	4288	6490	SO:0001583	missense	171489			AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.161G>A	X.37:g.140785755C>T	ENSP00000359546:p.Arg54His		Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	9.220	1.033247	0.19590	0.0	1.49E-4	ENSG00000196406	ENST00000370515	T	0.06933	3.24	.	.	.	.	.	.	.	.	T	0.11324	0.0276	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.59703	0.862	T	0.25641	-1.0126	6	0.15952	T	0.53	.	.	.	.	.	54	Q9BXN6	SPNXD_HUMAN	H	54	ENSP00000359546:R54H	ENSP00000359546:R54H	R	-	2	0	SPANXD	140613421	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	0.064000	0.14437	-0.506000	0.06558	0.068000	0.15388	CGC		0.483	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			T	140785755	C	T	140785755	3	4	62	1	0	0	0	0	1	0	0	0	14988	768	27	1	136	1	SPANXD	23	140785755	Missense_Mutation	SNP	C	TCGA-KO-8413-01A-11D-2310-10	60853026	140785755	14484805	55	6141											
CSMD2	114784	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	34037290	34037290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcctccatcggccatgcTccacgctgatgctactgaca	9	9	8	15	2	0	2	0	2	0	0	3	2	2	2	4	1	4	3	4	1	2	2			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:34037290T>C	ENST00000373381.4	-	51	7975	c.7799A>G	c.(7798-7800)gAg>gGg	p.E2600G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2602	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGGCCATGCTCCACGCTGAT	0.473																																						.											0													95	86	89					1																	34037290		2203	4300	6503	SO:0001583	missense	114784			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.7799A>G	1.37:g.34037290T>C	ENSP00000362479:p.Glu2600Gly		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.222722	0.79464	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.057747	0.64402	D	0.000002	T	0.73869	0.3642	M	0.62154	1.92	0.80722	D	1	D;D	0.60575	0.976;0.988	D;D	0.64877	0.93;0.93	T	0.73852	-0.3852	10	0.39692	T	0.17	.	13.9546	0.64140	0.0:0.0:0.0:1.0	.	2602;2600	Q7Z408;E7EUA6	CSMD2_HUMAN;.	G	2600	ENSP00000362479:E2600G	ENSP00000241312:E2602G	E	-	2	0	CSMD2	33809877	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.198000	0.72106	1.900000	0.55004	0.460000	0.39030	GAG		0.473	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		C	34037290	T	C	34037290	3	2	63	1	0	0	0	0	1	0	0	0	3945	1551	54	2	2730	2	CSMD2	1	34037290	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10		34037290	215213331	1	6142											
PTPRF	5792	bcgsc.ca	37	chr1	44079334	44079334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaccgacctggcggacaAcatcgagcgcctcaaagcca	12	4	9	16	4	2	0	2	0	0	0	3	3	2	1	4	2	3	0	4	2	2	0			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:44079334A>G	ENST00000359947.4	+	23	4359	c.4019A>G	c.(4018-4020)aAc>aGc	p.N1340S	PTPRF_ENST00000438120.1_Missense_Mutation_p.N1331S|PTPRF_ENST00000422171.2_Missense_Mutation_p.N699S|PTPRF_ENST00000372413.3_Missense_Mutation_p.N1331S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.N1340S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1340					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)				CTGGCGGACAACATCGAGCGC	0.597																																						.											0													287	232	251					1																	44079334		2203	4300	6503	SO:0001583	missense	5792			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.4019A>G	1.37:g.44079334A>G	ENSP00000353030:p.Asn1340Ser		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.20|16.20	3.055751|3.055751	0.55325|0.55325	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	T;T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59;1.59|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.37012|.	N|.	0.002300|.	T|T	0.52435|0.52435	0.1734|0.1734	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B;B|.	0.20459|.	0.002;0.033;0.045;0.024;0.004|.	B;B;B;B;B|.	0.11329|.	0.001;0.005;0.006;0.005;0.001|.	T|T	0.49447|0.49447	-0.8939|-0.8939	10|5	0.87932|.	D|.	0|.	.|.	15.4562|15.4562	0.75314|0.75314	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	985;699;917;1331;1340|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	S|A	1340;1331;1340;1331;699;412|986	ENSP00000353030:N1340S;ENSP00000398822:N1331S;ENSP00000361491:N1340S;ENSP00000361490:N1331S;ENSP00000387885:N699S;ENSP00000361484:N412S|.	ENSP00000353030:N1340S|.	N|T	+|+	2|1	0|0	PTPRF|PTPRF	43851921|43851921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.524000|0.524000	0.34500|0.34500	9.281000|9.281000	0.95811|0.95811	2.117000|2.117000	0.64856|0.64856	0.459000|0.459000	0.35465|0.35465	AAC|ACA		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			G	44079334	A	G	44079334	3	3	63	1	0	0	0	0	1	0	0	0	12801	43	2	2	4101	2	PTPRF	1	44079334	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	10042044	44079334	205171287	2	6143											
LHX8	431707	broad.mit.edu	37	chr1	75622672	75622672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcccaccctccaggcTgtctccacccatgttagaag	9	8	8	16	0	1	1	0	0	1	1	4	1	3	1	5	1	1	3	5	1	2	1			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:75622672T>C	ENST00000294638.5	+	9	1569	c.905T>C	c.(904-906)cTg>cCg	p.L302P	LHX8_ENST00000356261.3_Missense_Mutation_p.L292P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	302					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						CCCTCCAGGCTGTCTCCACCC	0.507																																						.											0													255	222	233					1																	75622672		2203	4300	6503	SO:0001583	missense	431707			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.905T>C	1.37:g.75622672T>C	ENSP00000294638:p.Leu302Pro		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955095	0.73902	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87179	-2.22;-2.2	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.91167	0.4965	10	0.72032	D	0.01	.	15.2331	0.73407	0.0:0.0:0.0:1.0	.	302	Q68G74	LHX8_HUMAN	P	302;292	ENSP00000294638:L302P;ENSP00000348597:L292P	ENSP00000294638:L302P	L	+	2	0	LHX8	75395260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.020000	0.76419	2.067000	0.61834	0.374000	0.22700	CTG		0.507	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		C	75622672	T	C	75622672	3	2	63	1	0	0	0	0	1	0	0	0	8776	1580	55	2	935	2	LHX8	1	75622672	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	31543338	75622672	173627949	3	6144											
DENND4B	9909	mdanderson.org	37	chr1	153907306	153907306	+	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	tgctgctgctgctgctgctgTtgctgctgctgctgctgttg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2	rs2275483|rs375088543|rs557071025	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:153907306T>C	ENST00000361217.4	-	18	3121	c.2703A>G	c.(2701-2703)caA>caG	p.Q901Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	901	Gln-rich.				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)	p.Q789Q(2)		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)			gctgctgctgttgctgctgct	0.647													T|||	552	0.110224	0.0582	0.1441	5008	,	,		16993	0.1627		0.0378	False		,,,				2504	0.1769					.											2	Substitution - coding silent(2)	prostate(2)						T		25,4345		2,21,2162	31	40	37		2703	2.1	1	1	dbSNP_120	37	106,8456		7,92,4182	no	coding-synonymous	DENND4B	NM_014856.2		9,113,6344	CC,CT,TT		1.238,0.5721,1.013		901/1497	153907306	131,12801	2185	4281	6466	SO:0001819	synonymous_variant	9909			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.2703A>G	1.37:g.153907306T>C			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		C	153907306	T	C	153907306	2	2	63	1	0	0	0	0	0	0	0	1	4434	1722	60	2		2	DENND4B	1	153907306	Silent	SNP	T	TCGA-KO-8414-01A-11D-2310-10	78284634	153907306	95343315	4	6145											
FCGR3B	2214	mdanderson.org	37	chr1	161599643	161599643	+	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	0	0	0	0	0	0	0	cctgtactctccactgtcgtTgactgtggcagcgtcaatga	7	12	10	12	2	2	2	1	2	1	0	4	2	2	2	2	1	2	3	2	1	2	2	rs147574249	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:161599643T>C	ENST00000540048.1	-	2	94				FCGR3B_ENST00000367964.2_Missense_Mutation_p.N82D|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.N118D|FCGR3B_ENST00000294800.3_Missense_Mutation_p.N82D			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						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)	CCACTGTCGTTGACTGTGGCA	0.537													t|||	1420	0.283546	0.3328	0.2709	5008	,	,		10033	0.4177		0.1332	False		,,,				2504	0.2423					.											0													94	104	101					1																	161599643		1988	4137	6125	SO:0001627	intron_variant	2215			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	ENST00000540048.1:c.61+514A>G	1.37:g.161599643T>C			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37		138|138	0.06318681318681318|0.06318681318681318	30|30	0.06097560975609756|0.06097560975609756	21|21	0.058011049723756904|0.058011049723756904	70|70	0.12237762237762238|0.12237762237762238	17|17	0.022427440633245383|0.022427440633245383	t|t	6.560|6.560	0.471594|0.471594	0.12461|0.12461	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.12147|.	2.71;2.71;2.71;2.71|.	2.79|2.79	-5.57|-5.57	0.02521|0.02521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.165540|.	0.06257|.	N|.	0.693161|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.03930|0.03930	-0.32|-0.32	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.34054|0.34054	-0.9844|-0.9844	10|5	0.40728|.	T|.	0.16|.	.|.	6.7925|6.7925	0.23707|0.23707	0.0:0.1697:0.1395:0.6908|0.0:0.1697:0.1395:0.6908	.|.	82|.	O75015|.	FCG3B_HUMAN|.	D|R	82;82;118;65|102	ENSP00000356941:N82D;ENSP00000294800:N82D;ENSP00000433642:N118D;ENSP00000437084:N65D|.	ENSP00000294800:N82D|.	N|Q	-|-	1|2	0|0	FCGR3B|FCGR3B	159866267|159866267	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-3.414000|-3.414000	0.00479|0.00479	-1.905000|-1.905000	0.01090|0.01090	-0.575000|-0.575000	0.04146|0.04146	AAC|CAA		0.537	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		C	161599643	T	C	161599643	1	2	63	0	1	0	0	0	0	0	0	0	5785	1812	63	4		4	FCGR3B	1	161599643	Intron	SNP	T	TCGA-KO-8414-01A-11D-2310-10	7692337	161599643	87650978	5	6146											
KIFAP3	22920	broad.mit.edu	37	chr1	170004687	170004687	+	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	acccttgctaatgcaccaagGgcagtttctaaagaaaaagg	15	8	9	9	0	1	1	0	0	1	1	1	1	1	1	2	2	2	4	2	2	6	4			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:170004687G>A	ENST00000361580.2	-	6	752	c.525C>T	c.(523-525)gcC>gcT	p.A175A	KIFAP3_ENST00000367765.1_Silent_p.A135A|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Silent_p.A131A|KIFAP3_ENST00000538366.1_Silent_p.A97A	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	175					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCACCAAGGGCAGTTTCTA	0.368																																						.											0													53	55	55					1																	170004687		2203	4300	6503	SO:0001819	synonymous_variant	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.525C>T	1.37:g.170004687G>A			B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	CCDS1288.1																																																																																				0.368	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		A	170004687	G	A	170004687	2	1	63	1	0	0	0	0	0	0	0	1	8311	1219	43	3		3	KIFAP3	1	170004687	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	8405044	170004687	79245934	6	6147											
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr2	11907890	11907890	+	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	aaccatgttttcccttcaggTtgacatagaaatcaatgggg	12	12	9	8	0	2	2	2	1	0	1	3	2	3	2	2	3	1	2	2	3	4	5			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:11907890T>A	ENST00000256720.2	+	3	287	c.194T>A	c.(193-195)gTt>gAt	p.V65D	LPIN1_ENST00000396098.1_Splice_Site_p.V71D|LPIN1_ENST00000449576.2_Splice_Site_p.V114D|LPIN1_ENST00000425416.2_Splice_Site_p.V71D|MIR548S_ENST00000581352.1_RNA|LPIN1_ENST00000396099.1_Splice_Site_p.V71D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	65	N-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)		TCCCTTCAGGTTGACATAGAA	0.423																																						.											0													103	101	102					2																	11907890		2203	4300	6503	SO:0001630	splice_region_variant	23175			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.193-1T>A	2.37:g.11907890T>A			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568823	0.86439	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000441684	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.89	4.89	0.63831	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.94838	0.8002	10	0.87932	D	0	-17.684	14.814	0.70017	0.0:0.0:0.0:1.0	.	114;65;71	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	D	114;71;71;71;65;65	ENSP00000397908:V114D;ENSP00000379405:V71D;ENSP00000379406:V71D;ENSP00000401522:V71D;ENSP00000256720:V65D;ENSP00000412578:V65D	ENSP00000256720:V65D	V	+	2	0	LPIN1	11825341	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.898000	0.87363	1.947000	0.56498	0.533000	0.62120	GTT		0.423	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	Missense_Mutation	A	11907890	T	A	11907890	5	1	63	1	0	0	0	0	0	0	1	0	8918	1739	60	5	200	5	LPIN1	2	11907890	Splice_Site	SNP	T	TCGA-KO-8414-01A-11D-2310-10		11907890	231291483	7	6148											
ADRA2B	151	mdanderson.org	37	chr2	96780986	96780986	+	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	tcacactcttcctcctcctcCtcctcctcttcagcttcatc	4	15	1	21	0	5	0	3	0	2	0	12	0	11	0	6	0	1	1	6	0	0	3	rs4426564|rs60083507|rs28365031|rs34667759|rs29000568	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:96780986C>T	ENST00000409345.3	-	1	998	c.903G>A	c.(901-903)gaG>gaA	p.E301E		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	301	Asp/Glu-rich (acidic).				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)	cctcctcctcctcctcctctt	0.657														1245	0.248602	0.3517	0.1873	5008	,	,		17797	0.1766		0.2028	False		,,,				2504	0.274					.											0													11	14	13					2																	96780986		2095	4198	6293	SO:0001819	synonymous_variant	151			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.903G>A	2.37:g.96780986C>T			Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	CCDS56129.1																																																																																				0.657	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			T	96780986	C	T	96780986	2	4	63	1	0	0	0	0	0	0	0	1	338	680	24	4		4	ADRA2B	2	96780986	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10	84873096	96780986	146418387	8	6149											
OBSL1	23363	mdanderson.org	37	chr2	220417266	220417266	+	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	aggcgggcagaccttcctgtCggatgcggacgcgggctccg	5	6	17	13	6	0	1	0	0	0	1	3	3	2	3	3	5	1	2	3	5	0	1	rs59332477	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:220417266C>T	ENST00000404537.1	-	18	5356	c.5300G>A	c.(5299-5301)cGa>cAa	p.R1767Q	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1675Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1767					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)		ACCTTCCTGTCGGATGCGGAC	0.731													C|||	1886	0.376597	0.3495	0.5202	5008	,	,		10361	0.3819		0.4583	False		,,,				2504	0.2219					.											0								C	GLN/ARG	1409,2443		283,843,800	9	13	12		5300	4.6	1	2	dbSNP_129	12	3644,4534		865,1914,1310	yes	missense	OBSL1	NM_015311.2	43	1148,2757,2110	TT,TC,CC		44.5586,36.5784,42.0033	probably-damaging	1767/1897	220417266	5053,6977	1926	4089	6015	SO:0001583	missense	23363			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.5300G>A	2.37:g.220417266C>T	ENSP00000385636:p.Arg1767Gln		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	913	0.41804029304029305	163	0.3313008130081301	168	0.46408839779005523	228	0.3986013986013986	354	0.46701846965699206	C	22.2	4.252406	0.80135	0.365784	0.445586	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.66995	-0.24;-0.24	4.61	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.41356	1.27	0.09310	P	1.0	D	0.89917	1.0	D	0.85130	0.997	T	0.44997	-0.9291	8	0.20519	T	0.43	.	14.2902	0.66273	0.0:1.0:0.0:0.0	rs59332477;rs62191611	1767	O75147	OBSL1_HUMAN	Q	1767;1675	ENSP00000385636:R1767Q;ENSP00000362983:R1675Q	ENSP00000362983:R1675Q	R	-	2	0	OBSL1	220125510	0.997000	0.39634	1.000000	0.80357	0.840000	0.47671	3.585000	0.53943	2.390000	0.81377	0.655000	0.94253	CGA		0.731	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220417266	C	T	220417266	3	4	63	1	0	0	0	0	1	0	0	0	10813	884	31	1	406	1	OBSL1	2	220417266	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	123636280	220417266	22782107	9	6150											
GPR35	2859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr2	241570087	241570087	+	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	tgcacgtggggctgacagtgCgcctcgcagtgggctggaac	6	7	17	11	3	0	1	0	1	0	0	1	2	0	2	1	4	3	4	1	4	1	0	rs377190882		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:241570087C>T	ENST00000319838.5	+	6	1660	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	GPR35_ENST00000430267.1_Missense_Mutation_p.R240C|GPR35_ENST00000438013.2_Missense_Mutation_p.R271C|GPR35_ENST00000403859.1_Missense_Mutation_p.R240C|GPR35_ENST00000407714.1_Missense_Mutation_p.R240C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	240					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)		GCTGACAGTGCGCCTCGCAGT	0.667																																						.											0													99	82	88					2																	241570087		2203	4300	6503	SO:0001583	missense	2859				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.718C>T	2.37:g.241570087C>T	ENSP00000322731:p.Arg240Cys		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923480	0.52653	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	3.64	-0.654	0.11443	GPCR, rhodopsin-like superfamily (1);	1.214260	0.05886	U	0.627409	T	0.79155	0.4398	L	0.58810	1.83	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68483	0.95;0.958;0.943	T	0.64952	-0.6286	10	0.56958	D	0.05	-3.0998	8.1112	0.30916	0.0:0.6526:0.0:0.3474	.	325;271;240	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	C	240;240;271;240;240	ENSP00000322731:R240C;ENSP00000385140:R240C;ENSP00000415890:R271C;ENSP00000384263:R240C;ENSP00000411788:R240C	ENSP00000322731:R240C	R	+	1	0	GPR35	241218760	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.668000	0.05268	-0.235000	0.09767	0.305000	0.20034	CGC		0.667	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		T	241570087	C	T	241570087	3	4	63	1	0	0	0	0	1	0	0	0	6690	768	27	1	720	1	GPR35	2	241570087	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	21152821	241570087	1629286	10	6151											
HRH1	3269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr3	11301062	11301062	+	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	gactatgtggccagcacagcGtccattttcagtgtcttcat	8	13	9	11	1	3	0	2	0	1	0	4	1	4	0	2	1	2	1	2	1	1	4	rs201790628	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:11301062G>A	ENST00000397056.1	+	3	530	c.339G>A	c.(337-339)gcG>gcA	p.A113A	HRH1_ENST00000431010.2_Silent_p.A113A|HRH1_ENST00000438284.2_Silent_p.A113A	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	113					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)	p.A113A(1)		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)	CCAGCACAGCGTCCATTTTCA	0.542													G|||	6	0.00119808	0	0	5008	,	,		18426	0		0	False		,,,				2504	0.0061					.											1	Substitution - coding silent(1)	large_intestine(1)											215	208	210					3																	11301062		2203	4300	6503	SO:0001819	synonymous_variant	3269				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.339G>A	3.37:g.11301062G>A			A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	CCDS2604.1																																																																																				0.542	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			A	11301062	G	A	11301062	2	1	63	1	0	0	0	0	0	0	0	1	7355	1132	40	1		1	HRH1	3	11301062	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10		11301062	186721368	11	6152											
ULK4	54986	ucsc.edu	37	chr3	41860994	41860994	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagggttctttttttttTcttcctaaaatgaagtggga	8	19	8	6	0	3	1	0	1	3	0	4	2	4	2	1	2	0	1	1	2	4	9			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:41860994T>C	ENST00000301831.4	-	19	2231	c.1769A>G	c.(1768-1770)gAa>gGa	p.E590G		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	590					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)		CTTTTTTTTTTCTTCCTAAAA	0.438																																						.											0													56	57	57					3																	41860994		1851	4087	5938	SO:0001583	missense	54986			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.1769A>G	3.37:g.41860994T>C	ENSP00000301831:p.Glu590Gly		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.755948	0.49362	.	.	ENSG00000168038	ENST00000301831	T	0.63913	-0.07	5.16	2.71	0.32032	Armadillo-like helical (1);Armadillo-type fold (2);	0.944419	0.08785	U	0.894149	T	0.67126	0.2860	L	0.43152	1.355	0.80722	D	1	D;D	0.63880	0.987;0.993	P;P	0.57776	0.827;0.827	T	0.55566	-0.8121	10	0.59425	D	0.04	.	8.1235	0.30984	0.2111:0.064:0.0:0.7249	.	590;590	B4E2M4;Q96C45	.;ULK4_HUMAN	G	590	ENSP00000301831:E590G	ENSP00000301831:E590G	E	-	2	0	ULK4	41835998	1.000000	0.71417	0.989000	0.46669	0.647000	0.38526	2.072000	0.41510	0.041000	0.15688	-2.530000	0.00182	GAA		0.438	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		C	41860994	T	C	41860994	3	2	63	1	0	0	0	0	1	0	0	0	16975	1783	62	4	2134	4	ULK4	3	41860994	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	30559932	41860994	156161436	12	6153											
CELSR3	1951	broad.mit.edu	37	chr3	48697290	48697290	+	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	gctgtgatagccagggtgtaGgtcacctggtcctcatagtc	7	11	13	10	0	2	1	2	1	0	0	4	1	3	1	3	3	1	2	3	3	3	3			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:48697290G>T	ENST00000164024.4	-	1	3058	c.2778C>A	c.(2776-2778)acC>acA	p.T926T	CELSR3_ENST00000544264.1_Silent_p.T926T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	926	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAGGGTGTAGGTCACCTGGT	0.522																																						.											0													152	131	138					3																	48697290		2203	4300	6503	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2778C>A	3.37:g.48697290G>T			O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.522	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48697290	G	T	48697290	2	4	63	1	0	0	0	0	0	0	0	1	3223	987	35	5		5	CELSR3	3	48697290	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	6836296	48697290	149325140	13	6154											
ZBBX	79740	broad.mit.edu	37	chr3	167039952	167039952	+	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	tccatataggatagaatgtcTtctttaagttcaatattaag	14	16	6	5	0	3	1	1	0	2	1	4	2	4	2	1	1	0	1	1	1	8	9			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:167039952T>C	ENST00000392766.2	-	12	1276	c.936A>G	c.(934-936)gaA>gaG	p.E312E	ZBBX_ENST00000455345.2_Silent_p.E312E|ZBBX_ENST00000392764.1_Silent_p.E283E|ZBBX_ENST00000392767.2_Silent_p.E312E|ZBBX_ENST00000307529.5_Silent_p.E312E|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	312						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						ATAGAATGTCTTCTTTAAGTT	0.279																																						.											0													67	64	65					3																	167039952		1789	4037	5826	SO:0001819	synonymous_variant	79740			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.936A>G	3.37:g.167039952T>C			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																				0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	167039952	T	C	167039952	2	2	63	1	0	0	0	0	0	0	0	1	17513	1606	56	2		2	ZBBX	3	167039952	Silent	SNP	T	TCGA-KO-8414-01A-11D-2310-10	118342662	167039952	30982478	14	6155											
EVC2	132884	broad.mit.edu	37	chr4	5564754	5564754	+	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	gggtacaggggccagttcgcCaatgggctccagtgacaggt	8	7	16	10	1	0	1	0	1	0	0	2	1	1	1	3	5	1	3	3	5	2	2			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr4:5564754C>T	ENST00000344408.5	-	22	3801	c.3748G>A	c.(3748-3750)Ggc>Agc	p.G1250S	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.G1170S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1250					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCCAGTTCGCCAATGGGCTCC	0.443																																						.											0													127	135	132					4																	5564754		2203	4300	6503	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3748G>A	4.37:g.5564754C>T	ENSP00000342144:p.Gly1250Ser		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239915	0.39598	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74526	-0.85;-0.85	5.17	4.32	0.51571	.	1.259860	0.05622	N	0.580176	T	0.56804	0.2010	N	0.12746	0.255	0.23936	N	0.996416	B	0.28605	0.217	B	0.21151	0.033	T	0.42882	-0.9425	10	0.27785	T	0.31	-17.1361	8.6563	0.34066	0.0:0.898:0.0:0.102	.	1250	Q86UK5	LBN_HUMAN	S	1170;1250	ENSP00000311683:G1170S;ENSP00000342144:G1250S	ENSP00000311683:G1170S	G	-	1	0	EVC2	5615655	0.059000	0.20769	0.029000	0.17559	0.953000	0.61014	2.258000	0.43249	2.430000	0.82344	0.563000	0.77884	GGC		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		T	5564754	C	T	5564754	3	4	63	1	0	0	0	0	1	0	0	0	5286	594	21	4	182	4	EVC2	4	5564754	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10		5564754	185589522	15	6156											
FBXL5	26234	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	15640143	15640143	+	Missense_Mutation	SNP	T	T	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	aatctcacctttatctgactTttcatccacggaatatttaa	12	16	3	10	1	3	1	2	1	2	0	5	2	4	2	2	1	0	0	2	1	5	7			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr4:15640143T>C	ENST00000341285.3	-	4	695	c.571A>G	c.(571-573)Aag>Gag	p.K191E	FBXL5_ENST00000382358.4_Missense_Mutation_p.K65E|FBXL5_ENST00000412094.2_Missense_Mutation_p.K174E	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	191					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TTATCTGACTTTTCATCCACG	0.353																																						.											0													57	55	56					4																	15640143		2203	4300	6503	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.571A>G	4.37:g.15640143T>C	ENSP00000344866:p.Lys191Glu		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.583921|4.583921	0.86748|0.86748	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358;ENST00000512066|ENST00000513163	T;T;T|.	0.33654|.	1.45;1.46;1.4|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.57330|0.57330	0.2046|0.2046	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.98|.	T|T	0.53906|0.53906	-0.8372|-0.8372	10|6	0.46703|.	T|.	0.11|.	-22.038|-22.038	15.8847|15.8847	0.79238|0.79238	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	174;191|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	E|R	191;174;65;153|111	ENSP00000344866:K191E;ENSP00000408679:K174E;ENSP00000371795:K65E|.	ENSP00000344866:K191E|.	K|K	-|-	1|2	0|0	FBXL5|FBXL5	15249241|15249241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.055000|6.055000	0.71103|0.71103	2.209000|2.209000	0.71365|0.71365	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.353	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			C	15640143	T	C	15640143	3	2	63	1	0	0	0	0	1	0	0	0	5722	1850	64	4	1536	4	FBXL5	4	15640143	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	10075389	15640143	175514133	16	6157											
CDC25C	995	broad.mit.edu	37	chr5	137666827	137666827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgggtcctgagccagAgcttccttcctctcttgtgg	7	12	10	12	0	1	2	0	1	1	1	5	2	4	2	4	2	3	1	4	2	2	3			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr5:137666827A>G	ENST00000323760.6	-	2	321	c.43T>C	c.(43-45)Tct>Cct	p.S15P	CDC25C_ENST00000514555.1_Missense_Mutation_p.S15P|CDC25C_ENST00000415130.2_Missense_Mutation_p.S15P|CDC25C_ENST00000357274.3_Missense_Mutation_p.S15P|CDC25C_ENST00000348983.3_Missense_Mutation_p.S15P|CDC25C_ENST00000513970.1_Missense_Mutation_p.S15P|CDC25C_ENST00000356505.3_Missense_Mutation_p.S15P	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	15					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)			CCTGAGCCAGAGCTTCCTTCC	0.458																																						.											0													90	86	87					5																	137666827		2203	4300	6503	SO:0001583	missense	995			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.43T>C	5.37:g.137666827A>G	ENSP00000321656:p.Ser15Pro		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	A	8.444	0.851558	0.17034	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T;T;T;T	0.23754	2.51;2.52;1.95;1.95;1.95;2.51;2.52;1.9;1.89	4.14	-0.563	0.11778	.	1.422790	0.04401	N	0.364291	T	0.07908	0.0198	N	0.01003	-1.06	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.0;0.0	T	0.18777	-1.0326	10	0.39692	T	0.17	12.7295	1.0632	0.01605	0.2141:0.4083:0.1758:0.2018	.	32;15;32;15;15;15	G3V1P6;P30307-3;B4DX61;P30307-2;P30307-4;P30307	.;.;.;.;.;MPIP3_HUMAN	P	15;15;15;15;15;15;32;15;15;32	ENSP00000321656:S15P;ENSP00000348898:S15P;ENSP00000349821:S15P;ENSP00000345205:S15P;ENSP00000392631:S15P;ENSP00000424795:S15P;ENSP00000425470:S15P;ENSP00000427251:S15P;ENSP00000427105:S32P	ENSP00000321656:S15P	S	-	1	0	CDC25C	137694726	0.000000	0.05858	0.000000	0.03702	0.673000	0.39480	-0.013000	0.12678	-0.090000	0.12462	0.533000	0.62120	TCT		0.458	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			G	137666827	A	G	137666827	3	3	63	1	0	0	0	0	1	0	0	0	3064	304	11	2	1430	2	CDC25C	5	137666827	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10		137666827	43248433	17	6158											
TREML2	79865	mdanderson.org	37	chr6	41166017	41166017	+	Missense_Mutation	SNP	C	C	T																															ggggccctttcacccagactCgggcaaagccaggctcacac																								rs77093113	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:41166017C>T	ENST00000483722.1	-	2	391	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	69	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)					CACCCAGACTCGGGCAAAGCC	0.572																																						.											0													126	124	125					6																	41166017		2203	4300	6503	SO:0001583	missense	79865			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.206G>A	6.37:g.41166017C>T	ENSP00000418767:p.Arg69Gln		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	15.90	2.968589	0.53614	.	.	ENSG00000112195	ENST00000483722	T	0.64991	-0.13	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129603	0.32563	N	0.005924	T	0.66567	0.2802	L	0.60455	1.87	0.26861	N	0.967955	D	0.89917	1.0	D	0.91635	0.999	T	0.60352	-0.7280	10	0.48119	T	0.1	-23.6018	13.6225	0.62144	0.0:1.0:0.0:0.0	.	69	Q5T2D2	TRML2_HUMAN	Q	69	ENSP00000418767:R69Q	ENSP00000418767:R69Q	R	-	2	0	TREML2	41273995	0.203000	0.23435	0.325000	0.25375	0.013000	0.08279	3.388000	0.52509	2.344000	0.79699	0.563000	0.77884	CGA		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41166017	C	T	41166017	3	4	63	1	0	0	0	0	1	0	0	0	16470	884	31	1	775	1	TREML2	6	41166017	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10		41166017	129949050	18	6159	168	2									
TREML2	79865	mdanderson.org	37	chr6	41166021	41166021	+	Missense_Mutation	SNP	C	C	T																															ccctttcacccagactcgggCaaagccaggctcacacttct																								rs386700523|rs61736679	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:41166021C>T	ENST00000483722.1	-	2	387	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	68	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)					CAGACTCGGGCAAAGCCAGGC	0.572																																						.											0													133	131	132					6																	41166021		2203	4300	6503	SO:0001583	missense	79865			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.202G>A	6.37:g.41166021C>T	ENSP00000418767:p.Ala68Thr		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.711493	0.00712	.	.	ENSG00000112195	ENST00000483722	T	0.67865	-0.29	4.75	0.472	0.16758	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.870478	0.09855	N	0.747087	T	0.06508	0.0167	N	0.00263	-1.745	0.21256	N	0.999743	B	0.10296	0.003	B	0.04013	0.001	T	0.39121	-0.9629	10	0.02654	T	1	-2.4265	5.3045	0.15795	0.0:0.0954:0.3459:0.5587	.	68	Q5T2D2	TRML2_HUMAN	T	68	ENSP00000418767:A68T	ENSP00000418767:A68T	A	-	1	0	TREML2	41273999	0.082000	0.21442	0.327000	0.25402	0.012000	0.07955	-0.620000	0.05565	-0.041000	0.13558	-0.440000	0.05779	GCC		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41166021	C	T	41166021	3	4	63	1	0	0	0	0	1	0	0	0	16470	710	25	4	779	4	TREML2	6	41166021	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	4	41166021	129949046	19	6160	168	2									
DST	667	broad.mit.edu;bcgsc.ca	37	chr6	56417323	56417323	+	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	tagaaaggcttttatagtttCcttttgcttttgcaatgttt	8	21	7	5	0	0	1	0	0	0	1	1	1	1	1	1	1	2	5	1	1	5	10			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:56417323C>A	ENST00000361203.3	-	57	15641	c.15634G>T	c.(15634-15636)Gaa>Taa	p.E5212*	DST_ENST00000421834.2_Nonsense_Mutation_p.E3126*|DST_ENST00000370788.2_Nonsense_Mutation_p.E3126*|DST_ENST00000370754.5_Nonsense_Mutation_p.E5392*|DST_ENST00000370769.4_Nonsense_Mutation_p.E5214*|DST_ENST00000244364.6_Nonsense_Mutation_p.E2800*|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Nonsense_Mutation_p.E4888*			Q03001	DYST_HUMAN	dystonin	5212					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)			TTTATAGTTTCCTTTTGCTTT	0.413																																						.											0													56	53	54					6																	56417323		1865	4086	5951	SO:0001587	stop_gained	667			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.15634G>T	6.37:g.56417323C>A	ENSP00000354508:p.Glu5212*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	55	24.898192	0.99962	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	6.17	4.1	0.47936	.	0.483231	0.18277	N	0.146130	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.1406	0.31080	0.0:0.6774:0.1268:0.1958	.	.	.	.	X	2800;5392;5214;3126;4888;3126;5212	.	ENSP00000244364:E2800X	E	-	1	0	DST	56525282	1.000000	0.71417	0.958000	0.39756	0.987000	0.75469	2.104000	0.41815	1.625000	0.50366	0.655000	0.94253	GAA		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56417323	C	A	56417323	4	1	63	1	0	0	0	0	0	1	0	0	4783	864	30	5	7289	5	DST	6	56417323	Nonsense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	15251302	56417323	114697744	20	6161											
GGCT	79017	hgsc.bcm.edu	37	chr7	30544237	30544238	+	Frame_Shift_Del	DEL	CT	CT	-																															aggggtttcggaggtggatcCtctctgtcagcaggttgctg																										TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:30544237_30544238delCT	ENST00000275428.4	-	1	222_223	c.88_89delAG	c.(88-90)aggfs	p.R30fs	GGCT_ENST00000005374.6_Frame_Shift_Del_p.R30fs|GGCT_ENST00000409390.1_Frame_Shift_Del_p.R30fs|GGCT_ENST00000598361.1_Intron|GGCT_ENST00000409436.1_Frame_Shift_Del_p.R30fs|GGCT_ENST00000409144.1_Frame_Shift_Del_p.R30fs	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	30					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGGTGGATCCTCTCTGTCAGC	0.644																																						.											0																																										SO:0001589	frameshift_variant	79017			BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"chromosome 7 open reading frame 24"	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.88_89delAG	7.37:g.30544241_30544242delCT	ENSP00000275428:p.Arg30fs		B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Frame_Shift_Del	DEL	ENST00000275428.4	37	CCDS5428.1																																																																																				0.644	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		-	30544238	CT	-	30544237	7	5	63	1	0	1	0	1	0	0	0	0	6355	681	24	0	493	0	GGCT	7	30544237	Frame_Shift_Del	DEL	CT	TCGA-KO-8414-01A-11D-2310-10		30544237	128594426	21	6162	169	2									
GGCT	79017	bcgsc.ca	37	chr7	30544238	30544239	+	Frame_Shift_Del	DEL	CT	CT	-																															ggggtttcggaggtggatccTctctgtcagcaggttgctgc																										TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:30544238_30544239delCT	ENST00000275428.4	-	1	221_222	c.87_88delAG	c.(85-90)gaagggfs	p.G30fs	GGCT_ENST00000005374.6_Frame_Shift_Del_p.G30fs|GGCT_ENST00000409390.1_Frame_Shift_Del_p.G30fs|GGCT_ENST00000598361.1_Intron|GGCT_ENST00000409436.1_Frame_Shift_Del_p.G30fs|GGCT_ENST00000409144.1_Frame_Shift_Del_p.G30fs	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	30					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						AGGTGGATCCTCTCTGTCAGCA	0.649																																						.											0																																										SO:0001589	frameshift_variant	79017			BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"chromosome 7 open reading frame 24"	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.87_88delAG	7.37:g.30544238_30544239delCT	ENSP00000275428:p.Gly30fs		B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Frame_Shift_Del	DEL	ENST00000275428.4	37	CCDS5428.1																																																																																				0.649	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		-	30544239	CT	-	30544238	7	5	63	1	0	1	0	1	0	0	0	0	6355	1550	54	0	494	0	GGCT	7	30544238	Frame_Shift_Del	DEL	CT	TCGA-KO-8414-01A-11D-2310-10	1	30544238	128594425	22	6163	169	2									
BAZ1B	9031	broad.mit.edu	37	chr7	72863961	72863961	+	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	tcatagagggccggcctcagAcaaaacaggtggaaggcttt	12	7	13	9	1	2	2	2	0	0	2	2	3	2	3	2	5	1	1	2	5	4	2			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:72863961A>G	ENST00000339594.4	-	15	3977	c.3639T>C	c.(3637-3639)tgT>tgC	p.C1213C	BAZ1B_ENST00000404251.1_Silent_p.C1213C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1213					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)				CCGGCCTCAGACAAAACAGGT	0.517																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	.											0													92	85	87					7																	72863961		2203	4300	6503	SO:0001819	synonymous_variant	9031			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.3639T>C	7.37:g.72863961A>G			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.517	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		G	72863961	A	G	72863961	2	3	63	1	0	0	0	0	0	0	0	1	1330	273	10	2		2	BAZ1B	7	72863961	Silent	SNP	A	TCGA-KO-8414-01A-11D-2310-10	42319723	72863961	86274702	23	6164											
GNAI1	2770	bcgsc.ca	37	chr7	79818278	79818284	+	Frame_Shift_Del	DEL	ATCTGGT	ATCTGGT	-																															tatttttaggtgctggtgaaTctggtaaaagtacaattgtg																								rs147937975		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	ATCTGGT	ATCTGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:79818278_79818284delATCTGGT	ENST00000351004.3	+	2	503_509	c.130_136delATCTGGT	c.(130-138)atctggtaafs	p.IW*44fs	GNAI1_ENST00000457358.2_5'UTR|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	44					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)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGGTGAATCTGGTAAAAGTACAAT	0.314																																						.											0																																										SO:0001589	frameshift_variant	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.130_136delATCTGGT	7.37:g.79818278_79818284delATCTGGT	ENSP00000343027:p.Ile44fs		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Frame_Shift_Del	DEL	ENST00000351004.3	37	CCDS5595.1																																																																																				0.314	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		-	79818284	ATCTGGT	-	79818278	7	5	63	1	0	1	0	1	0	0	0	0	6504	1435	50	0	136	0	GNAI1	7	79818278	Frame_Shift_Del	DEL	ATCTGGT	TCGA-KO-8414-01A-11D-2310-10	6954317	79818278	79320385	24	6165											
GRM3	2913	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	86479693	86479693	+	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	ccttctcttgtaggtgcagaCgacaaccatgtgcatctctg	8	12	9	12	1	2	1	0	0	2	1	4	2	2	1	2	1	3	3	2	1	2	3	rs376384427		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:86479693C>T	ENST00000361669.2	+	5	3498	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M	GRM3_ENST00000546348.1_Missense_Mutation_p.T392M|GRM3_ENST00000439827.1_Silent_p.D444D|GRM3_ENST00000536043.1_Missense_Mutation_p.T672M|GRM3_ENST00000394720.2_Silent_p.D442D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	800					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TAGGTGCAGACGACAACCATG	0.453													C|||	1	0.000199681	0	0	5008	,	,		21863	0		0	False		,,,				2504	0.001				GBM(52;969 1098 3139 52280)	.											0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	218	150	173		2399	6	1	7		173	0,8600		0,0,4300	no	missense	GRM3	NM_000840.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	800/880	86479693	1,13005	2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2399C>T	7.37:g.86479693C>T	ENSP00000355316:p.Thr800Met		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545246	0.86022	2.27E-4	0.0	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88818	-2.43;-2.43;-2.43	5.97	5.97	0.96955	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.97110	0.861;1.0;0.999	D	0.93124	0.6527	10	0.62326	D	0.03	.	19.4162	0.94700	0.0:1.0:0.0:0.0	.	392;672;800	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	M	800;392;672	ENSP00000355316:T800M;ENSP00000444064:T392M;ENSP00000441407:T672M	ENSP00000355316:T800M	T	+	2	0	GRM3	86317629	1.000000	0.71417	0.972000	0.41901	0.785000	0.44390	6.077000	0.71275	2.837000	0.97791	0.655000	0.94253	ACG		0.453	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86479693	C	T	86479693	3	4	63	1	0	0	0	0	1	0	0	0	6798	536	19	1	2413	1	GRM3	7	86479693	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	6661415	86479693	72658970	25	6166											
PTPRN2	5799	broad.mit.edu;bcgsc.ca	37	chr7	157449123	157449123	+	Missense_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	ccaggatgaggcgctgctgcGtgcggaggggctggggatcg	5	6	21	9	4	0	1	0	1	0	0	1	4	0	4	1	7	3	3	1	7	0	0			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:157449123G>A	ENST00000389418.4	-	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	PTPRN2_ENST00000389416.4_Missense_Mutation_p.R691C|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R670C|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R679C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R731C	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	708					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCGCTGCTGCGTGCGGAGGGG	0.662																																						.											0													73	60	65					7																	157449123		2174	4259	6433	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2122C>T	7.37:g.157449123G>A	ENSP00000374069:p.Arg708Cys		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	g	15.09	2.731049	0.48939	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03524	3.92;3.95;3.91;3.91;3.9	4.19	3.29	0.37713	.	0.000000	0.64402	U	0.000017	T	0.16685	0.0401	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.996;0.987;0.996;0.997;0.99	T	0.00494	-1.1706	10	0.87932	D	0	.	13.598	0.62002	0.0:0.0:0.8433:0.1567	.	731;670;679;691;708	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	C	670;679;691;708;731	ENSP00000387114:R670C;ENSP00000374064:R679C;ENSP00000374067:R691C;ENSP00000374069:R708C;ENSP00000385464:R731C	ENSP00000374064:R679C	R	-	1	0	PTPRN2	157141884	1.000000	0.71417	0.328000	0.25416	0.041000	0.13682	5.015000	0.64035	0.857000	0.35407	0.444000	0.29173	CGC		0.662	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157449123	G	A	157449123	3	1	63	1	0	0	0	0	1	0	0	0	12808	1145	40	1	965	1	PTPRN2	7	157449123	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10	70969430	157449123	1689540	26	6167											
TRAPPC9	83696	broad.mit.edu	37	chr8	141321473	141321473	+	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	tttgggccacatctttctttTctgaagagaagatgaaaaca	13	13	8	7	0	3	4	0	2	3	2	3	5	3	4	1	1	1	0	1	1	4	4			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr8:141321473T>C	ENST00000438773.2	-	10	1629	c.1496A>G	c.(1495-1497)gAa>gGa	p.E499G	TRAPPC9_ENST00000389327.3_Splice_Site_p.E490G|TRAPPC9_ENST00000389328.4_Splice_Site_p.E597G	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	499					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATCTTTCTTTTCTGAAGAGAA	0.493																																						.											0													82	82	82					8																	141321473		2203	4300	6503	SO:0001630	splice_region_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1496-1A>G	8.37:g.141321473T>C			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317407	0.81469	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.73217	2.22	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.79393	-0.1822	9	0.52906	T	0.07	.	15.6142	0.76753	0.0:0.0:0.0:1.0	.	499;490;597	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	G	597;490;499	.	ENSP00000373978:E490G	E	-	2	0	TRAPPC9	141390655	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	6.822000	0.75277	2.230000	0.72887	0.454000	0.30748	GAA		0.493	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	Missense_Mutation	C	141321473	T	C	141321473	5	2	63	1	0	0	0	0	0	0	1	0	16462	1797	62	4	2006	4	TRAPPC9	8	141321473	Splice_Site	SNP	T	TCGA-KO-8414-01A-11D-2310-10		141321473	5042549	27	6168											
ADAMTS14	140766	broad.mit.edu	37	chr10	72496471	72496471	+	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	ccctgcaagcagctgtggtgCagccatcctgacaacccgta	9	7	10	15	1	0	1	0	1	0	0	1	1	1	1	4	1	6	5	4	1	3	1			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:72496471C>T	ENST00000373207.1	+	10	1521	c.1521C>T	c.(1519-1521)tgC>tgT	p.C507C	ADAMTS14_ENST00000373208.1_Silent_p.C510C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	507	Disintegrin.				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						AGCTGTGGTGCAGCCATCCTG	0.587																																						.											0													98	85	89					10																	72496471		2203	4300	6503	SO:0001819	synonymous_variant	140766			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.1521C>T	10.37:g.72496471C>T			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																				0.587	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72496471	C	T	72496471	2	4	63	1	0	0	0	0	0	0	0	1	259	718	25	4		4	ADAMTS14	10	72496471	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10		72496471	63038276	28	6169											
KNDC1	85442	mdanderson.org	37	chr10	135000148	135000148	+	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	gagagaattccagaaggagcTaggcagctggaaagtgcagc	14	5	15	7	0	0	2	0	0	0	2	1	6	1	4	1	3	4	4	1	3	4	2	rs3810965	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:135000148T>C	ENST00000304613.3	+	6	1317	c.1296T>C	c.(1294-1296)gcT>gcC	p.A432A	KNDC1_ENST00000368572.2_Silent_p.A432A|KNDC1_ENST00000368571.2_Silent_p.A367A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	432					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)		CAGAAGGAGCTAGGCAGCTGG	0.667													c|||	2087	0.416733	0.118	0.3847	5008	,	,		13870	0.5764		0.4354	False		,,,				2504	0.6595					.											0										719,3683		63,593,1545	26	32	30		1296	-4.2	0	10	dbSNP_107	30	3956,4636		925,2106,1265	no	coding-synonymous	KNDC1	NM_152643.6		988,2699,2810	CC,CT,TT		46.0428,16.3335,35.9781		432/1750	135000148	4675,8319	2201	4296	6497	SO:0001819	synonymous_variant	85442			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.1296T>C	10.37:g.135000148T>C			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																				0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		C	135000148	T	C	135000148	2	2	63	1	0	0	0	0	0	0	0	1	8426	1509	53	2		2	KNDC1	10	135000148	Silent	SNP	T	TCGA-KO-8414-01A-11D-2310-10	62503677	135000148	534599	29	6170			1	55		2	2	12	N	T_A	1.883255e-05
KNDC1	85442	mdanderson.org	37	chr10	135000159	135000159	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctaggcagctggAaagtgcagccgcggagcagg	12	3	18	8	2	0	1	0	0	0	1	0	4	0	4	1	5	5	5	1	5	3	1	rs3810964	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:135000159A>G	ENST00000304613.3	+	6	1328	c.1307A>G	c.(1306-1308)gAa>gGa	p.E436G	KNDC1_ENST00000368572.2_Missense_Mutation_p.E436G|KNDC1_ENST00000368571.2_Missense_Mutation_p.E371G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	436			E -> G (in dbSNP:rs3810964). {ECO:0000269|Ref.1}.		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)		AGGCAGCTGGAAAGTGCAGCC	0.652													a|||	2088	0.416933	0.118	0.3847	5008	,	,		14228	0.5774		0.4354	False		,,,				2504	0.6595					.											0									GLY/GLU	699,3701		65,569,1566	23	28	26		1307	-5.9	0	10	dbSNP_107	26	3934,4658		927,2080,1289	yes	missense	KNDC1	NM_152643.6	98	992,2649,2855	GG,GA,AA		45.7868,15.8864,35.6604	benign	436/1750	135000159	4633,8359	2200	4296	6496	SO:0001583	missense	85442			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.1307A>G	10.37:g.135000159A>G	ENSP00000304437:p.Glu436Gly		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	871	0.39880952380952384	52	0.10569105691056911	135	0.3729281767955801	338	0.5909090909090909	346	0.45646437994722955	A	6.455	0.452036	0.12283	0.158864	0.457868	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.28895	1.59;1.59;1.59	3.02	-5.95	0.02241	.	0.946911	0.08625	N	0.917834	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43893	-0.9363	9	0.09843	T	0.71	-2.0863	2.4481	0.04511	0.2095:0.4457:0.2064:0.1384	rs3810964;rs58651584;rs3810964	371;436	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	G	436;436;371	ENSP00000304437:E436G;ENSP00000357561:E436G;ENSP00000357560:E371G	ENSP00000304437:E436G	E	+	2	0	KNDC1	134850149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.407000	0.07178	-1.198000	0.02669	-1.676000	0.00740	GAA		0.652	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		G	135000159	A	G	135000159	3	3	63	1	0	0	0	0	1	0	0	0	8426	246	9	4	1329	4	KNDC1	10	135000159	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	11	135000159	534588	30	6171			1	55		2	2	12	N	T_A	1.883255e-05
MUC6	4588	mdanderson.org	37	chr11	1016628	1016628	+	Missense_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	tcattggtggggctgtgtggGtggaccctgtggccttgagc	3	12	18	8	0	1	1	1	1	0	0	1	2	1	2	2	6	1	1	2	6	0	2	rs202039948		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1016628G>A	ENST00000421673.2	-	31	6223	c.6173C>T	c.(6172-6174)aCc>aTc	p.T2058I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2058	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)		GGCTGTGTGGGTGGACCCTGT	0.567																																						.											0													381	380	380					11																	1016628		2193	4287	6480	SO:0001583	missense	4588			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.6173C>T	11.37:g.1016628G>A	ENSP00000406861:p.Thr2058Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507954	0.44558	.	.	ENSG00000184956	ENST00000421673	T	0.19250	2.16	2.46	2.46	0.29980	.	.	.	.	.	T	0.20941	0.0504	L	0.50333	1.59	0.09310	N	1	D	0.56968	0.978	B	0.42738	0.396	T	0.10706	-1.0618	9	0.45353	T	0.12	.	11.0274	0.47753	0.0:0.0:1.0:0.0	.	2058	Q6W4X9	MUC6_HUMAN	I	2058	ENSP00000406861:T2058I	ENSP00000406861:T2058I	T	-	2	0	MUC6	1006628	0.007000	0.16637	0.002000	0.10522	0.226000	0.24999	1.358000	0.34102	1.716000	0.51395	0.313000	0.20887	ACC		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016628	G	A	1016628	3	1	63	1	0	0	0	0	1	0	0	0	9980	1261	44	3	1158	3	MUC6	11	1016628	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10		1016628	133989888	31	6172			2	56		2	2	35	G		5.820856e-05
MUC6	4588	mdanderson.org	37	chr11	1016662	1016662	+	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	cttgagcgttgttggtggagGaacggtgcctgttggcgttg	4	13	18	6	3	0	1	0	1	0	0	0	3	0	3	1	5	3	4	1	5	1	5	rs201489806		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1016662G>A	ENST00000421673.2	-	31	6189	c.6139C>T	c.(6139-6141)Cct>Tct	p.P2047S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2047	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)		GTTGGTGGAGGAACGGTGCCT	0.572																																						.											0													524	490	502					11																	1016662		2200	4295	6495	SO:0001583	missense	4588			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.6139C>T	11.37:g.1016662G>A	ENSP00000406861:p.Pro2047Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442648	0.12164	.	.	ENSG00000184956	ENST00000421673	T	0.18810	2.19	3.12	-2.06	0.07298	.	.	.	.	.	T	0.10809	0.0264	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	9	0.11485	T	0.65	.	2.5371	0.04716	0.2087:0.142:0.5053:0.144	.	2047	Q6W4X9	MUC6_HUMAN	S	2047	ENSP00000406861:P2047S	ENSP00000406861:P2047S	P	-	1	0	MUC6	1006662	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.038000	0.13862	-1.027000	0.03325	-1.786000	0.00637	CCT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016662	G	A	1016662	3	1	63	1	0	0	0	0	1	0	0	0	9980	1174	41	3	1192	3	MUC6	11	1016662	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10	34	1016662	133989854	32	6173			2	56		2	2	35	G		5.820856e-05
MUC2	4583	broad.mit.edu	37	chr11	1092624	1092624	+	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	accactcccagccctccaacCaccactcccagccctccaac	10	4	2	25	0	0	0	0	0	0	0	4	0	4	0	9	0	4	0	9	0	2	0			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1092624C>A	ENST00000441003.2	+	30	4470	c.4443C>A	c.(4441-4443)acC>acA	p.T1481T	MUC2_ENST00000359061.5_Silent_p.T1482T|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4216	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)	gccctccaaccaccactccca	0.627																																						.											0													223	336	297					11																	1092624		1558	2939	4497	SO:0001819	synonymous_variant	4583			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.4443C>A	11.37:g.1092624C>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092624	C	A	1092624	2	1	63	1	0	0	0	0	0	0	0	1	9975	581	21	5		5	MUC2	11	1092624	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10	75962	1092624	133913892	33	6174											
GYLTL1B	120071	broad.mit.edu	37	chr11	45945039	45945039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcttgcatgtggccAtcgtgtgtgcggggcataac	6	10	13	12	2	1	0	0	0	1	0	2	0	1	0	2	3	4	3	2	3	1	2	rs200481274	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:45945039A>G	ENST00000531526.1	+	3	412	c.301A>G	c.(301-303)Atc>Gtc	p.I101V	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.I101V|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.I70V|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.I70V|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.I101V	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	101					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GCATGTGGCCATCGTGTGTGC	0.642													A|||	3	0.000599042	0.0023	0	5008	,	,		14666	0		0	False		,,,				2504	0					.											0													125	101	109					11																	45945039		2203	4299	6502	SO:0001583	missense	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.301A>G	11.37:g.45945039A>G	ENSP00000432869:p.Ile101Val		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	CCDS31473.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	12.92	2.082391	0.36758	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.39592	1.07;1.09;1.09;1.09;1.07	5.41	1.6	0.23607	.	0.529195	0.20424	N	0.092620	T	0.25791	0.0628	L	0.31926	0.97	0.80722	D	1	B;B	0.17667	0.023;0.005	B;B	0.22880	0.042;0.02	T	0.05099	-1.0906	10	0.12766	T	0.61	-13.0566	6.0892	0.19985	0.6788:0.0:0.0699:0.2513	.	70;101	E9PIZ2;Q8N3Y3	.;LARG2_HUMAN	V	70;101;101;101;70	ENSP00000431932:I70V;ENSP00000432869:I101V;ENSP00000385235:I101V;ENSP00000324570:I101V;ENSP00000445044:I70V	ENSP00000324570:I101V	I	+	1	0	GYLTL1B	45901615	0.066000	0.20996	1.000000	0.80357	0.664000	0.39144	1.170000	0.31883	0.345000	0.23873	-0.333000	0.08304	ATC		0.642	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		G	45945039	A	G	45945039	3	3	63	1	0	0	0	0	1	0	0	0	6907	217	8	4	307	4	GYLTL1B	11	45945039	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	44852415	45945039	89061477	34	6175											
RCOR2	283248	mdanderson.org	37	chr11	63679369	63679369	+	Missense_Mutation	SNP	T	T	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	tgctgggggctccagaggggTtccaatcagggtgggtgggg	5	8	21	7	0	1	1	1	0	0	1	3	1	3	1	2	8	1	3	2	8	1	1	rs320108	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:63679369T>C	ENST00000301459.4	-	12	1927	c.1540A>G	c.(1540-1542)Acc>Gcc	p.T514A	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	514	Pro-rich.		T -> A (in dbSNP:rs320108). {ECO:0000269|PubMed:15489334}.		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						TCCAGAGGGGTTCCAATCAGG	0.716													C|||	4739	0.946286	0.8064	0.9813	5008	,	,		6119	1		1	False		,,,				2504	1					.											0													1	1	1					11																	63679369		870	1975	2845	SO:0001583	missense	283248			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.1540A>G	11.37:g.63679369T>C	ENSP00000301459:p.Thr514Ala		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	2093	0.9583333333333334	408	0.8292682926829268	355	0.9806629834254144	572	1.0	758	1.0	C	5.421	0.262822	0.10294	.	.	ENSG00000167771	ENST00000301459	T	0.28454	1.61	4.42	4.42	0.53409	.	0.312825	0.30752	N	0.008943	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42361	-0.9456	9	0.02654	T	1	.	7.9221	0.29852	0.0:0.7501:0.1613:0.0885	rs320108;rs17855501;rs61010286	514	Q8IZ40	RCOR2_HUMAN	A	514	ENSP00000301459:T514A	ENSP00000301459:T514A	T	-	1	0	RCOR2	63435945	0.021000	0.18746	1.000000	0.80357	0.993000	0.82548	0.269000	0.18589	1.258000	0.44101	-0.222000	0.12452	ACC		0.716	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		C	63679369	T	C	63679369	3	2	63	1	0	0	0	0	1	0	0	0	13183	1725	60	2	35	2	RCOR2	11	63679369	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	17734330	63679369	71327147	35	6176											
RCOR2	283248	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	63681937	63681937	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgggcctgtctgtccAtcacactagttcggctgcgg	4	9	13	15	4	2	0	1	0	1	0	4	0	3	0	4	3	1	2	4	3	1	2			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:63681937A>G	ENST00000301459.4	-	6	944	c.557T>C	c.(556-558)aTg>aCg	p.M186T	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	186					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						CTGTCTGTCCATCACACTAGT	0.602																																						.											0													60	72	68					11																	63681937		2200	4297	6497	SO:0001583	missense	283248			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.557T>C	11.37:g.63681937A>G	ENSP00000301459:p.Met186Thr		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740239	0.69304	.	.	ENSG00000167771	ENST00000301459	T	0.28895	1.59	4.37	4.37	0.52481	.	0.046931	0.85682	D	0.000000	T	0.54029	0.1833	M	0.84082	2.675	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.61860	-0.6976	10	0.72032	D	0.01	.	12.8973	0.58106	1.0:0.0:0.0:0.0	.	186	Q8IZ40	RCOR2_HUMAN	T	186	ENSP00000301459:M186T	ENSP00000301459:M186T	M	-	2	0	RCOR2	63438513	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.404000	0.79996	1.749000	0.51849	0.459000	0.35465	ATG		0.602	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		G	63681937	A	G	63681937	3	3	63	1	0	0	0	0	1	0	0	0	13183	217	8	4	1042	4	RCOR2	11	63681937	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	2568	63681937	71324579	36	6177											
OR2AT4	341152	hgsc.bcm.edu	37	chr11	74800084	74800084	+	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	cgaagcactgaggccaggatGtggacataggagagaagcac	14	4	15	8	1	0	2	0	1	0	1	0	7	0	5	1	4	2	2	1	4	3	1			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:74800084G>A	ENST00000305159.3	-	1	715	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGCCAGGATGTGGACATAGG	0.592																																						.											0													43	43	43					11																	74800084		2200	4293	6493	SO:0001819	synonymous_variant	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.675C>T	11.37:g.74800084G>A			B9EGZ8	Silent	SNP	ENST00000305159.3	37	CCDS31639.1																																																																																				0.592	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		A	74800084	G	A	74800084	2	1	63	1	0	0	0	0	0	0	0	1	10987	1368	48	4		4	OR2AT4	11	74800084	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	11118147	74800084	60206432	37	6178											
CEP57	9702	broad.mit.edu	37	chr11	95561021	95561021	+	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	ctaatgaagcaacacagtaaAgctttgtgcaatgatcgagt	15	10	9	7	1	0	2	0	2	0	0	1	3	0	2	0	0	4	4	0	0	6	3			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:95561021A>G	ENST00000325542.5	+	9	1195	c.957A>G	c.(955-957)aaA>aaG	p.K319K	CEP57_ENST00000541150.1_Silent_p.K310K|CEP57_ENST00000325486.5_Silent_p.K293K|CEP57_ENST00000537677.1_Silent_p.K292K	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	319	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)				AACACAGTAAAGCTTTGTGCA	0.423									Mosaic Variegated Aneuploidy Syndrome																													.											0													165	151	156					11																	95561021		2201	4298	6499	SO:0001819	synonymous_variant	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	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.957A>G	11.37:g.95561021A>G			A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Silent	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	A	6.608	0.480636	0.12581	.	.	ENSG00000166037	ENST00000535224	.	.	.	5.85	3.55	0.40652	.	.	.	.	.	T	0.59542	0.2201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53585	-0.8418	4	.	.	.	-12.1297	9.8436	0.41013	0.8007:0.0:0.1993:0.0	.	.	.	.	G	109	.	.	S	+	1	0	CEP57	95200669	1.000000	0.71417	0.869000	0.34112	0.641000	0.38312	1.953000	0.40352	0.484000	0.27630	0.383000	0.25322	AGC		0.423	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		G	95561021	A	G	95561021	2	3	63	1	0	0	0	0	0	0	0	1	3256	69	3	2		2	CEP57	11	95561021	Silent	SNP	A	TCGA-KO-8414-01A-11D-2310-10	20760937	95561021	39445495	38	6179											
PDGFD	80310	bcgsc.ca	37	chr11	104034625	104034625	+	Frame_Shift_Del	DEL	A	A	-																															gctgcaaaagtttgcgcagaTtagagtgtagacaaagatga																								rs199923487		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:104034625delA	ENST00000393158.2	-	1	210	c.31delT	c.(31-33)ttcfs	p.F11fs	PDGFD_ENST00000302251.5_Frame_Shift_Del_p.F11fs			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	11					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)				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)		TTTGCGCAGATTAGAGTGTAG	0.567											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													63	63	63					11																	104034625		2202	4299	6501	SO:0001589	frameshift_variant	80310			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.31delT	11.37:g.104034625delA	ENSP00000376865:p.Phe11fs	1378	A8K9T6|Q9BWV5	Frame_Shift_Del	DEL	ENST00000393158.2	37	CCDS41703.1																																																																																				0.567	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		-	104034625	A	-	104034625	7	5	63	1	0	1	0	1	0	0	0	0	11660	1493	52	0	1109	0	PDGFD	11	104034625	Frame_Shift_Del	DEL	A	TCGA-KO-8414-01A-11D-2310-10	8473604	104034625	30971891	39	6180											
FEZ1	9638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr11	125359542	125359542	+	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	gaagaaaaattctcaagctcGgagagggaggggtcctcgag	13	6	15	7	2	1	2	1	0	1	2	5	6	2	3	1	4	1	1	1	4	4	1	rs558361561	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:125359542G>A	ENST00000278919.3	-	2	366	c.132C>T	c.(130-132)tcC>tcT	p.S44S	FEZ1_ENST00000366139.3_Silent_p.S44S|FEZ1_ENST00000524435.1_Silent_p.S44S	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	44					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCAAGCTCGGAGAGGGAGG	0.502													G|||	4	0.000798722	0	0	5008	,	,		18287	0.001		0	False		,,,				2504	0.0031				Melanoma(180;509 2033 10762 15939 24711)	.											0													64	70	68					11																	125359542		2201	4299	6500	SO:0001819	synonymous_variant	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.132C>T	11.37:g.125359542G>A			O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	CCDS31716.1																																																																																				0.502	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		A	125359542	G	A	125359542	2	1	63	1	0	0	0	0	0	0	0	1	5823	1103	39	1		1	FEZ1	11	125359542	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	21324917	125359542	9646974	40	6181											
PRH2	5555	mdanderson.org	37	chr12	11083356	11083356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgatgggaaccagAatgatggccctcagcaggga	10	7	15	9	0	1	3	1	2	0	1	1	5	1	5	2	4	3	2	2	4	2	0	rs112809344|rs116998526	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr12:11083356A>G	ENST00000396400.3	+	3	234	c.196A>G	c.(196-198)Aat>Gat	p.N66D	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.N66D	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	66			D -> N (in allele PRH2-1; dbSNP:rs1049112). {ECO:0000269|Ref.4}.			extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TGGGAACCAGAATGATGGCCC	0.582																																						.											0													135	130	132					12																	11083356		2173	4253	6426	SO:0001583	missense	5555				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.196A>G	12.37:g.11083356A>G	ENSP00000379682:p.Asn66Asp		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	CCDS8636.1	516	0.23626373626373626	107	0.21747967479674796	78	0.2154696132596685	120	0.2097902097902098	211	0.2783641160949868	a	0.001	-3.000061	0.00044	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.16597	2.33;2.33	0.736	-1.47	0.08772	.	1.354520	0.05670	N	0.588505	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.31530	-0.9940	6	0.02654	T	1	.	2.7991	0.05409	0.458:0.2535:0.2885:0.0	.	.	.	.	D	66	ENSP00000371271:N66D;ENSP00000379682:N66D	ENSP00000371271:N66D	N	+	1	0	PRH2	10974623	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.671000	0.01954	-1.974000	0.00998	-0.614000	0.04051	AAT		0.582	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		G	11083356	A	G	11083356	3	3	63	1	0	0	0	0	1	0	0	0	12483	246	9	4	206	4	PRH2	12	11083356	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10		11083356	122768539	41	6182											
GXYLT1	283464	mdanderson.org	37	chr12	42512817	42512817	+	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	cttactctgcctttaaagctAtgatgtagctgatcttcagc	9	15	7	10	0	3	2	1	2	2	0	3	2	3	2	1	0	5	3	1	0	5	6	rs201566551		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr12:42512817A>G	ENST00000398675.3	-	3	703	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_ENST00000280876.6_Silent_p.H126H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	157					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						CTTTAAAGCTATGATGTAGCT	0.323																																						.											0													71	64	66					12																	42512817		1859	4097	5956	SO:0001819	synonymous_variant	283464			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.471T>C	12.37:g.42512817A>G			B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	CCDS41772.1																																																																																				0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		G	42512817	A	G	42512817	2	3	63	1	0	0	0	0	0	0	0	1	6903	446	16	4		4	GXYLT1	12	42512817	Silent	SNP	A	TCGA-KO-8414-01A-11D-2310-10	31429461	42512817	91339078	42	6183											
SYNE2	23224	bcgsc.ca	37	chr14	64445578	64445578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgttttccagaatcaacaAcattttggagaaaaaattta	17	13	5	6	0	1	2	1	0	0	2	2	3	2	2	1	1	2	1	1	1	7	6			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:64445578A>G	ENST00000344113.4	+	14	1627	c.1415A>G	c.(1414-1416)aAc>aGc	p.N472S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.N472S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N472S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	472					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)		AGAATCAACAACATTTTGGAG	0.289																																						.											0													52	49	50					14																	64445578		1789	4059	5848	SO:0001583	missense	23224			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.1415A>G	14.37:g.64445578A>G	ENSP00000341781:p.Asn472Ser		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287284	0.23478	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55234	0.91;0.91;0.53	6.0	4.83	0.62350	.	0.197267	0.35067	N	0.003476	T	0.60573	0.2279	L	0.59436	1.845	0.80722	D	1	P;D	0.56035	0.956;0.974	P;P	0.57009	0.651;0.811	T	0.57189	-0.7854	10	0.30078	T	0.28	.	10.8847	0.46960	0.8596:0.0:0.0:0.1404	.	472;472	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	472	ENSP00000350719:N472S;ENSP00000341781:N472S;ENSP00000452570:N472S	ENSP00000261678:N472S	N	+	2	0	SYNE2	63515331	0.887000	0.30362	1.000000	0.80357	0.189000	0.23516	0.506000	0.22658	1.034000	0.39945	0.528000	0.53228	AAC		0.289	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64445578	A	G	64445578	3	3	63	1	0	0	0	0	1	0	0	0	15443	43	2	2	1465	2	SYNE2	14	64445578	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10		64445578	42903962	43	6184											
PAPLN	89932	ucsc.edu	37	chr14	73721711	73721711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttgtaacacgcagcccTgtcatctcccccagggtaag	9	8	9	15	1	2	0	1	0	1	0	3	0	2	0	4	1	3	3	4	1	2	3			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:73721711T>C	ENST00000554301.1	+	13	1775	c.1612T>C	c.(1612-1614)Tgt>Cgt	p.C538R	PAPLN_ENST00000340738.5_Missense_Mutation_p.C511R|PAPLN_ENST00000381166.3_Missense_Mutation_p.C538R|PAPLN_ENST00000427855.1_Missense_Mutation_p.C538R|PAPLN_ENST00000555445.1_Missense_Mutation_p.C538R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	538	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)		CACGCAGCCCTGTCATCTCCC	0.642																																						.											0													35	35	35					14																	73721711		2203	4300	6503	SO:0001583	missense	89932			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.1612T>C	14.37:g.73721711T>C	ENSP00000451803:p.Cys538Arg		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	T	14.56	2.571985	0.45798	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12	4.55	4.55	0.56014	.	.	.	.	.	D	0.99527	0.9831	H	0.99415	4.555	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.70016	0.944;0.967;0.963	D	0.97673	1.0168	9	0.87932	D	0	.	14.063	0.64810	0.0:0.0:0.0:1.0	.	538;538;511	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	511;538;538;538;538	ENSP00000345395:C511R;ENSP00000403403:C538R;ENSP00000370558:C538R;ENSP00000451803:C538R;ENSP00000451729:C538R	ENSP00000216658:C538R	C	+	1	0	PAPLN	72791464	1.000000	0.71417	0.998000	0.56505	0.056000	0.15407	7.084000	0.76866	1.901000	0.55032	0.533000	0.62120	TGT		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		C	73721711	T	C	73721711	3	2	63	1	0	0	0	0	1	0	0	0	11428	1580	55	2	1577	2	PAPLN	14	73721711	Missense_Mutation	SNP	T	TCGA-KO-8414-01A-11D-2310-10	9276133	73721711	33627829	44	6185											
AHNAK2	113146	mdanderson.org	37	chr14	105412138	105412138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggccagctccctcgAgaacgtggccctctgggagc	6	8	13	14	2	1	2	0	1	1	1	3	4	2	3	3	3	3	1	3	3	1	1	rs200384326		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:105412138A>G	ENST00000333244.5	-	7	9769	c.9650T>C	c.(9649-9651)cTc>cCc	p.L3217P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3217						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)			AGCTCCCTCGAGAACGTGGCC	0.602																																						.											0													112	72	85					14																	105412138		1914	4004	5918	SO:0001583	missense	113146			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.9650T>C	14.37:g.105412138A>G	ENSP00000353114:p.Leu3217Pro		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	2.736	-0.263306	0.05754	.	.	ENSG00000185567	ENST00000333244	T	0.00554	6.64	2.59	2.59	0.31030	.	.	.	.	.	T	0.00178	0.0005	N	0.00128	-2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	8	0.30078	T	0.28	.	5.3502	0.16032	0.1716:0.0:0.8284:0.0	.	3217	Q8IVF2	AHNK2_HUMAN	P	3217	ENSP00000353114:L3217P	ENSP00000353114:L3217P	L	-	2	0	AHNAK2	104483183	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.587000	0.05780	0.297000	0.22615	-0.971000	0.02607	CTC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412138	A	G	105412138	3	3	63	1	0	0	0	0	1	0	0	0	415	304	11	2	7741	2	AHNAK2	14	105412138	Missense_Mutation	SNP	A	TCGA-KO-8414-01A-11D-2310-10	31690427	105412138	1937402	45	6186											
SETD1A	9739	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	30990508	30990508	+	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	cagtgcgcctctgcgtccccCagaaccacctgctgggcccc	5	6	10	20	2	1	1	0	0	1	1	2	1	2	1	7	1	4	1	7	1	1	0			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr16:30990508C>G	ENST00000262519.8	+	14	4087	c.3401C>G	c.(3400-3402)cCa>cGa	p.P1134R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1134	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGCGTCCCCCAGAACCACCT	0.682																																						.											0													8	9	8					16																	30990508		2120	4233	6353	SO:0001583	missense	9739			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.3401C>G	16.37:g.30990508C>G	ENSP00000262519:p.Pro1134Arg		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	1.780	-0.482257	0.04383	.	.	ENSG00000099381	ENST00000262519	D	0.94376	-3.41	5.03	3.07	0.35406	.	0.432061	0.22293	N	0.061961	D	0.89643	0.6774	M	0.61703	1.905	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.81965	-0.0691	10	0.66056	D	0.02	.	4.1573	0.10266	0.1617:0.579:0.0:0.2592	.	1134	O15047	SET1A_HUMAN	R	1134	ENSP00000262519:P1134R	ENSP00000262519:P1134R	P	+	2	0	SETD1A	30898009	0.000000	0.05858	0.692000	0.30179	0.179000	0.23085	0.663000	0.25053	0.522000	0.28464	-0.252000	0.11476	CCA		0.682	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		G	30990508	C	G	30990508	3	3	63	1	0	0	0	0	1	0	0	0	14130	594	21	5	3451	5	SETD1A	16	30990508	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10		30990508	59364245	46	6187											
TP53	7157	hgsc.bcm.edu;bcgsc.ca	37	chr17	7577543	7577543	+	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	gtgaggatgggcctccggttCatgccgcccatgcaggaact	7	8	14	12	2	1	1	1	1	0	0	2	3	2	3	4	4	3	2	4	4	1	1	rs397516437		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:7577543C>A	ENST00000269305.4	-	7	927	c.738G>T	c.(736-738)atG>atT	p.M246I	TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000420246.2_Missense_Mutation_p.M246I	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	GCCTCCGGTTCATGCCGCCCA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	43	Substitution - Missense(24)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(3)	upper_aerodigestive_tract(8)|biliary_tract(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(1)|lung(1)|skin(1)|pancreas(1)											152	113	126					17																	7577543		2203	4300	6503	SO:0001583	missense	7157	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;	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.738G>T	17.37:g.7577543C>A	ENSP00000269305:p.Met246Ile		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	25.1	4.604664	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	4.62	4.62	0.57501	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	0.99468	0.9811	L	0.33624	1.015	0.80722	D	1	P;B;B;D;P;D	0.76494	0.895;0.098;0.057;0.969;0.474;0.999	D;B;B;D;P;D	0.83275	0.931;0.24;0.082;0.959;0.865;0.996	D	0.97709	1.0189	10	0.87932	D	0	-28.5667	15.3618	0.74483	0.0:1.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246I;ENSP00000352610:M246I;ENSP00000269305:M246I;ENSP00000398846:M246I;ENSP00000391127:M246I;ENSP00000391478:M246I;ENSP00000425104:M114I;ENSP00000423862:M153I	ENSP00000269305:M246I	M	-	3	0	TP53	7518268	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577543	C	A	7577543	3	1	63	1	0	0	0	0	1	0	0	0	16378	826	29	5	552	5	TP53	17	7577543	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10		7577543	73617667	47	6188											
MYO15A	51168	broad.mit.edu	37	chr17	18025035	18025035	+	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	cctgggccctgtgccatcccCcaccctccagcctgaggatc	5	7	9	20	0	0	1	0	1	0	0	3	2	2	2	8	2	2	0	8	2	0	0			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:18025035C>T	ENST00000205890.5	+	2	3259	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	974					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)					GTGCCATCCCCCACCCTCCAG	0.657																																						.											0													16	18	17					17																	18025035		1917	4121	6038	SO:0001583	missense	51168			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.2921C>T	17.37:g.18025035C>T	ENSP00000205890:p.Pro974Leu		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.642537	0.29246	.	.	ENSG00000091536	ENST00000205890	D	0.86562	-2.14	4.11	1.96	0.26148	.	.	.	.	.	T	0.75686	0.3883	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.65467	-0.6161	9	0.72032	D	0.01	.	5.0866	0.14687	0.2025:0.6831:0.0:0.1144	.	974	Q9UKN7	MYO15_HUMAN	L	974	ENSP00000205890:P974L	ENSP00000205890:P974L	P	+	2	0	MYO15A	17965760	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.561000	0.23515	0.716000	0.32124	0.455000	0.32223	CCC		0.657	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18025035	C	T	18025035	3	4	63	1	0	0	0	0	1	0	0	0	10063	623	22	3	2923	3	MYO15A	17	18025035	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	10447492	18025035	63170175	48	6189											
CDC27	996	mdanderson.org	37	chr17	45234664	45234664	+	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	agataaactatgattaggtaCttgtgttgtgcaagagttgg	12	14	12	3	0	0	3	0	1	0	2	0	3	0	3	0	2	3	4	0	2	6	7			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:45234664C>T	ENST00000066544.3	-	6	655	c.562G>A	c.(562-564)Gta>Ata	p.V188I	CDC27_ENST00000446365.2_Missense_Mutation_p.V127I|CDC27_ENST00000527547.1_Missense_Mutation_p.V188I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V188I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	188					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						TGATTAGGTACTTGTGTTGTG	0.383																																						.											0													68	69	68					17																	45234664		2203	4300	6503	SO:0001583	missense	996			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.562G>A	17.37:g.45234664C>T	ENSP00000066544:p.Val188Ile		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817763	0.16607	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66815	-0.22;-0.22;0.05;-0.23;0.88	5.39	3.38	0.38709	.	0.290713	0.33364	N	0.004987	T	0.42131	0.1189	N	0.08118	0	0.37885	D	0.930507	B;B;B;B	0.13145	0.004;0.007;0.001;0.0	B;B;B;B	0.10450	0.002;0.005;0.002;0.001	T	0.32134	-0.9918	10	0.17369	T	0.5	-14.5769	10.538	0.45016	0.0:0.8363:0.0:0.1637	.	127;188;188;188	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	188;188;127;188;188	ENSP00000066544:V188I;ENSP00000434614:V188I;ENSP00000392802:V127I;ENSP00000437339:V188I;ENSP00000432105:V188I	ENSP00000066544:V188I	V	-	1	0	CDC27	42589663	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.765000	0.55272	1.285000	0.44548	-0.157000	0.13467	GTA		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234664	C	T	45234664	3	4	63	1	0	0	0	0	1	0	0	0	3066	565	20	4	1986	4	CDC27	17	45234664	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	27209629	45234664	35960546	49	6190											
ATP8B3	148229	mdanderson.org	37	chr19	1789556	1789556	+	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	ctacggcgggctctggagtcCtgggctggcggtgcagccag	4	7	18	12	3	1	0	0	0	1	0	2	1	2	1	2	6	3	3	2	6	1	1	rs12978609	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:1789556C>T	ENST00000310127.6	-	23	2887	c.2649G>A	c.(2647-2649)caG>caA	p.Q883Q	ATP8B3_ENST00000539485.1_Silent_p.Q893Q|ATP8B3_ENST00000525591.1_Silent_p.Q846Q	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	883					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGGAGTCCTGGGCTGGCG	0.706													.|||	1551	0.309704	0.2988	0.2882	5008	,	,		7109	0.4395		0.2515	False		,,,				2504	0.2658					.											0								C	,	1059,2769		176,707,1031	7	9	9		2538,2649	-4.6	0	19	dbSNP_121	9	1989,6143		269,1451,2346	no	coding-synonymous,coding-synonymous	ATP8B3	NM_001178002.1,NM_138813.2	,	445,2158,3377	TT,TC,CC		24.4589,27.6646,25.4849	,	846/1264,883/1301	1789556	3048,8912	1914	4066	5980	SO:0001819	synonymous_variant	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2649G>A	19.37:g.1789556C>T			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	CCDS45901.1																																																																																				0.706	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1789556	C	T	1789556	2	4	63	1	0	0	0	0	0	0	0	1	1196	680	24	4		4	ATP8B3	19	1789556	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10		1789556	57339427	50	6191											
OR10H2	26538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr19	15839690	15839690	+	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	accctgatggccaccacctaCgcagtcctcacgcccttcct	7	8	6	20	2	1	1	1	1	0	0	3	1	3	1	7	1	1	1	7	1	1	2	rs141193809	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:15839690C>T	ENST00000305899.3	+	1	857	c.837C>T	c.(835-837)taC>taT	p.Y279Y		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCACCACCTACGCAGTCCTCA	0.532													c|||	5	0.000998403	0	0	5008	,	,		21943	0.004		0.001	False		,,,				2504	0					.											0													129	107	114					19																	15839690		2203	4300	6503	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.837C>T	19.37:g.15839690C>T			Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																				0.532	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839690	C	T	15839690	2	4	63	1	0	0	0	0	0	0	0	1	10906	547	19	1		1	OR10H2	19	15839690	Silent	SNP	C	TCGA-KO-8414-01A-11D-2310-10	14050134	15839690	43289293	51	6192											
PEG3	5178	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr19	57327003	57327003	+	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	caatgtatttctttttagcaCgagccttctggtattcacgg	8	16	8	9	2	3	0	1	0	2	0	3	1	3	0	1	2	2	3	1	2	4	8	rs140722468		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:57327003C>T	ENST00000326441.9	-	10	3170	c.2807G>A	c.(2806-2808)cGt>cAt	p.R936H	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R810H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R936H|PEG3_ENST00000598410.1_Missense_Mutation_p.R812H|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	936					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTTTTAGCACGAGCCTTCTG	0.448													C|||	1	0.000199681	0	0	5008	,	,		20637	0.001		0	False		,,,				2504	0					.											0													128	126	127					19																	57327003		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2807G>A	19.37:g.57327003C>T	ENSP00000326581:p.Arg936His		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.94	1.492123	0.26774	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02890	4.12;4.12	3.99	3.99	0.46301	.	0.000000	0.47852	D	0.000214	T	0.08268	0.0206	M	0.68593	2.085	.	.	.	P;D;D	0.89917	0.663;1.0;1.0	B;D;D	0.85130	0.185;0.997;0.997	T	0.11941	-1.0567	9	0.02654	T	1	-28.6785	7.7783	0.29049	0.0:0.8895:0.0:0.1105	.	812;936;871	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	936	ENSP00000326581:R936H;ENSP00000403051:R936H	ENSP00000326581:R936H	R	-	2	0	ZIM2	62018815	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	2.527000	0.45615	2.539000	0.85634	0.655000	0.94253	CGT		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57327003	C	T	57327003	3	4	63	1	0	0	0	0	1	0	0	0	11720	536	19	1	1963	1	PEG3	19	57327003	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	41487313	57327003	1801980	52	6193											
ZNF814	730051	mdanderson.org	37	chr19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T																															cacattctccacattcataaGgtcttttcccagtgtgaact																								rs111727691		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					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						ACATTCATAAGGTCTTTTCCC	0.358																																						.											0													15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051				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.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	63	1	0	0	0	0	1	0	0	0	18173	1000	35	5	1603	5	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10	1058787	58385790	743193	53	6194	170	3									
ZNF814	730051	mdanderson.org	37	chr19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T																															attctccacattcataaggtCttttcccagtgtgaactctc																								rs113623532		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					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						TTCATAAGGTCTTTTCCCAGT	0.358																																						.											0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				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.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	63	1	0	0	0	0	1	0	0	0	18173	913	32	4	1606	4	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-KO-8414-01A-11D-2310-10	3	58385793	743190	54	6195	170	3									
ZNF814	730051	mdanderson.org	37	chr19	58385798	58385799	+	Missense_Mutation	DNP	CC	CC	TT																															ccacattcataaggtcttttCccagtgtgaactctctgatg																										TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385798_58385799CC>TT	ENST00000435989.2	-	3	1193_1194	c.959_960GG>AA	c.(958-960)gGG>gAA	p.G320E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					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)	p.G320E(1)|p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAAC	0.356																																						.											2	Substitution - Missense(1)|Substitution - coding silent(1)	central_nervous_system(2)																																								SO:0001583	missense	730051				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.959_960delinsTT	19.37:g.58385798_58385799delinsTT	ENSP00000410545:p.Gly320Glu		A6NF35	Missense_Mutation	DNP	ENST00000435989.2	37	CCDS46212.1																																																																																				0.356	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		TT	58385799	CC	TT	58385798	3	4	63	1	0	0	0	0	1	0	0	0	18173	842	30	3	1611	3	ZNF814	19	58385798	Missense_Mutation	DNP	CC	TCGA-KO-8414-01A-11D-2310-10	5	58385798	743185	55	6196	170	3									
TMEM90B	79953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr20	24646034	24646034	+	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	ccaggccagcaccagctcccGgcgggccctattcctggcag	6	5	12	18	2	0	0	0	0	0	0	2	0	2	0	6	4	2	3	6	4	1	2			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr20:24646034G>A	ENST00000376862.3	+	4	1304	c.671G>A	c.(670-672)cGg>cAg	p.R224Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	224					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACCAGCTCCCGGCGGGCCCTA	0.587																																						.											0													124	135	132					20																	24646034		2203	4300	6503	SO:0001583	missense	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.671G>A	20.37:g.24646034G>A	ENSP00000366058:p.Arg224Gln		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981175	0.97168	.	.	ENSG00000101463	ENST00000376862	D	0.86497	-2.13	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90420	0.4416	10	0.51188	T	0.08	-38.2043	17.4359	0.87552	0.0:0.0:1.0:0.0	.	224	Q9H7V2	SYNG1_HUMAN	Q	224	ENSP00000366058:R224Q	ENSP00000366058:R224Q	R	+	2	0	SYNDIG1	24594034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.529000	0.98049	2.714000	0.92807	0.561000	0.74099	CGG		0.587	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		A	24646034	G	A	24646034	3	1	63	1	0	0	0	0	1	0	0	0	16216	1116	39	1	681	1	TMEM90B	20	24646034	Missense_Mutation	SNP	G	TCGA-KO-8414-01A-11D-2310-10		24646034	38379486	56	6197											
NCOA3	8202	mdanderson.org	37	chr20	46279827	46279827	+	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	atgatgatgcagcagcagcaGcagcagcaacagcagcagca	15	3	12	11	0	0	2	0	2	0	0	0	2	0	2	0	0	11	10	0	0	1	0	rs6018623	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr20:46279827G>A	ENST00000371998.3	+	20	3944	c.3753G>A	c.(3751-3753)caG>caA	p.Q1251Q	NCOA3_ENST00000341724.6_Silent_p.Q1177Q|NCOA3_ENST00000372004.3_Silent_p.Q1247Q|NCOA3_ENST00000371997.3_Silent_p.Q1242Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1251	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						agcagcagcagcagcagcaac	0.552													G|||	876	0.17492	0.1906	0.1571	5008	,	,		14950	0.1617		0.1928	False		,,,				2504	0.1616					.											0								G	,,,	850,3556	326.4+/-299.6	85,680,1438	49	55	53		3750,3726,3741,3753	4.4	1	20	dbSNP_114	53	959,7641	191.8+/-238.0	90,779,3431	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	175,1459,4869	AA,AG,GG		11.1512,19.2919,13.909	,,,	1250/1424,1242/1416,1247/1421,1251/1425	46279827	1809,11197	2203	4300	6503	SO:0001819	synonymous_variant	8202			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.3753G>A	20.37:g.46279827G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.552	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279827	G	A	46279827	2	1	63	1	0	0	0	0	0	0	0	1	10230	962	34	4		4	NCOA3	20	46279827	Silent	SNP	G	TCGA-KO-8414-01A-11D-2310-10	21633793	46279827	16745693	57	6198											
UBXN11	91544	mdanderson.org	37	chr1	26608828	26608828	+	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	gggtccaggacagggactggGgccgggaccgggaccgggac	7	2	21	11	3	0	0	0	0	0	0	1	5	1	5	4	8	0	0	4	8	0	0	rs66614970|rs1134584	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:26608828G>A	ENST00000374222.1	-	16	1989	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	UBXN11_ENST00000374217.2_Missense_Mutation_p.P476S|UBXN11_ENST00000374223.1_Missense_Mutation_p.P266S|UBXN11_ENST00000314675.7_Missense_Mutation_p.P389S|UBXN11_ENST00000374221.3_Missense_Mutation_p.P509S|UBXN11_ENST00000357089.4_Missense_Mutation_p.P476S			Q5T124	UBX11_HUMAN	UBX domain protein 11	509	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		P -> S (in dbSNP:rs17838088). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						cagggactggggccgggaccg	0.716													-|||	1970	0.393371	0.3555	0.402	5008	,	,		9393	0.3095		0.6292	False		,,,				2504	0.2822					.											1	Deletion - In frame(1)	ovary(1)						G	SER/PRO,SER/PRO,SER/PRO	1653,1827		423,807,510	15	18	17		1525,1426,1165		0.1	1	dbSNP_86	17	5288,2624		1813,1662,481	yes	missense,missense,missense	UBXN11	NM_183008.2,NM_145345.2,NM_001077262.1	74,74,74	2236,2469,991	AA,AG,GG		33.1648,47.5,39.0713	,,	509/521,476/488,389/401	26608828	6941,4451	1740	3956	5696	SO:0001583	missense	91544			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.1525C>T	1.37:g.26608828G>A	ENSP00000363339:p.Pro509Ser		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	816	0.37362637362637363	167	0.3394308943089431	127	0.35082872928176795	149	0.26048951048951047	373	0.4920844327176781	-	0.571	-0.841059	0.02692	0.475	0.668352	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.22945	2.0;1.93;1.95;2.0;2.0;1.95	.	.	.	.	0.324999	0.15808	U	0.243645	T	0.00012	0.0000	N	0.24115	0.695	0.54753	P	1.4999999999987246E-5	.	.	.	.	.	.	T	0.23261	-1.0193	5	0.36615	T	0.2	.	.	.	.	rs3196815	476;389;509	Q5T124-2;Q5T124-3;Q5T124	.;.;UBX11_HUMAN	S	389;266;476;509;509;476	ENSP00000324721:P389S;ENSP00000363340:P266S;ENSP00000349601:P476S;ENSP00000363338:P509S;ENSP00000363339:P509S;ENSP00000363334:P476S	ENSP00000324721:P389S	P	-	1	0	UBXN11	26481415	0.000000	0.05858	0.140000	0.22221	0.152000	0.21847	-0.877000	0.04197	0.064000	0.16427	0.064000	0.15345	CCC		0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26608828	G	A	26608828	3	1	64	1	0	0	0	0	1	0	0	0	16910	1232	43	3	41	3	UBXN11	1	26608828	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		26608828	222641793	1	6199											
NASP	4678	mdanderson.org	37	chr1	46073361	46073362	+	Missense_Mutation	DNP	CA	CA	TG																															agtgcagagaaaaaggaggtCaggagaagcagggagaggta																								rs78094239|rs75187774	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:46073361_46073362CA>TG	ENST00000350030.3	+	6	865_866	c.778_779CA>TG	c.(778-780)CAg>TGg	p.Q260W	NASP_ENST00000537798.1_Missense_Mutation_p.Q196W|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.Q262W	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	260	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)					AAAAGGAGGTCAGGAGAAGCAG	0.48																																						.											0																																										SO:0001583	missense	4678			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	Exception_encountered	1.37:g.46073361_46073362delinsTG	ENSP00000255120:p.Gln260Trp		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	DNP	ENST00000350030.3	37	CCDS524.1																																																																																				0.48	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		TG	46073362	CA	TG	46073361	3	4	64	1	0	0	0	0	1	0	0	0	10172	827	29	4	877	4	NASP	1	46073361	Missense_Mutation	DNP	CA	TCGA-KO-8415-01A-11D-2310-10	19464533	46073361	203177260	2	6200			1	57		2	2	13	N	G_CA	3.062292e-05
NASP	4678	mdanderson.org	37	chr1	46073373	46073373	+	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	aaggaggtcaggagaagcagGgagaggtaattgtgagcata	15	6	17	3	0	1	3	1	1	0	2	1	6	1	4	0	5	2	3	0	5	4	3	rs199792714	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:46073373G>A	ENST00000350030.3	+	6	877	c.790G>A	c.(790-792)Gga>Aga	p.G264R	NASP_ENST00000537798.1_Missense_Mutation_p.G200R|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.G266R	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	264	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)					GGAGAAGCAGGGAGAGGTAAT	0.478																																						.											0													44	47	46					1																	46073373		2203	4300	6503	SO:0001583	missense	4678			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.790G>A	1.37:g.46073373G>A	ENSP00000255120:p.Gly264Arg		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306595	0.81247	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.37	5.37	0.77165	.	0.623202	0.16964	N	0.192395	D	0.93615	0.7961	L	0.32530	0.975	0.43412	D	0.995555	P;P;D;P;P	0.53619	0.928;0.933;0.961;0.883;0.919	P;P;P;B;B	0.50405	0.565;0.542;0.64;0.231;0.408	D	0.92054	0.5651	9	.	.	.	-3.2525	20.0097	0.97446	0.0:0.0:1.0:0.0	.	200;264;164;264;266	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	R	200;266;164;264;227	ENSP00000438871:G200R;ENSP00000384529:G266R;ENSP00000255120:G264R;ENSP00000436924:G227R	.	G	+	1	0	NASP	45845960	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.877000	0.39598	2.902000	0.99343	0.650000	0.86243	GGA		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		A	46073373	G	A	46073373	3	1	64	1	0	0	0	0	1	0	0	0	10172	1233	43	3	889	3	NASP	1	46073373	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	12	46073373	203177248	3	6201			1	57		2	2	13	N	G_CA	3.062292e-05
FAM189B	10712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr1	155224214	155224214	+	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	tagagtgaatggccgcttccAggacacaatgccaaccaccc	12	6	9	14	1	0	2	0	1	0	1	1	3	1	3	5	2	2	1	5	2	4	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:155224214A>T	ENST00000361361.2	-	2	768	c.259T>A	c.(259-261)Tgg>Agg	p.W87R	SCAMP3_ENST00000472397.1_5'Flank|FAM189B_ENST00000368368.3_Intron|FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000350210.2_Intron	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	87						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCCGCTTCCAGGACACAATG	0.632																																						.											0													76	76	76					1																	155224214		2203	4300	6503	SO:0001583	missense	10712			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.259T>A	1.37:g.155224214A>T	ENSP00000354958:p.Trp87Arg		B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240778	0.79912	.	.	ENSG00000160767	ENST00000361361	T	0.02258	4.37	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.05960	0.0155	M	0.65975	2.015	0.46298	D	0.99897	D	0.76494	0.999	D	0.87578	0.998	T	0.05338	-1.0891	10	0.87932	D	0	.	11.9955	0.53201	1.0:0.0:0.0:0.0	.	87	P81408	F189B_HUMAN	R	87	ENSP00000354958:W87R	ENSP00000354958:W87R	W	-	1	0	FAM189B	153490838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.248000	0.78268	1.989000	0.58080	0.459000	0.35465	TGG		0.632	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		T	155224214	A	T	155224214	3	4	64	1	0	0	0	0	1	0	0	0	5517	188	7	5	1791	5	FAM189B	1	155224214	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	109150841	155224214	94026407	4	6202											
FAM5C	339479	hgsc.bcm.edu;ucsc.edu	37	chr1	190067565	190067565	+	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	gacttgatgcgacttctcagGtagatgtgtactgtctcaaa	10	13	10	8	1	2	2	2	1	2	1	4	4	2	2	0	1	2	2	0	1	3	4			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:190067565G>A	ENST00000367462.3	-	8	2115	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	BRINP3_ENST00000534846.1_Silent_p.Y526Y	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	628					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)											GACTTCTCAGGTAGATGTGTA	0.453																																						.											0													223	233	230					1																	190067565		2203	4300	6503	SO:0001819	synonymous_variant	339479			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.1884C>T	1.37:g.190067565G>A			B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	CCDS1373.1																																																																																				0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		A	190067565	G	A	190067565	2	1	64	1	0	0	0	0	0	0	0	1	5594	1256	44	3		3	FAM5C	1	190067565	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10	34843351	190067565	59183056	5	6203											
OR14C36	127066	mdanderson.org	37	chr1	248512749	248512749	+	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	acatcttttcgaccgtgctcGggtttccaagaggagcagac	9	10	11	11	3	1	2	0	0	1	2	4	4	2	3	2	2	2	3	2	2	1	3	rs28377739	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr1:248512749G>A	ENST00000317861.1	+	1	673	c.673G>A	c.(673-675)Ggg>Agg	p.G225R		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	225			G -> R (in dbSNP:rs28377739).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GACCGTGCTCGGGTTTCCAAG	0.498													a|||	2306	0.460463	0.3601	0.4885	5008	,	,		19309	0.4315		0.5239	False		,,,				2504	0.5409					.											0								A	ARG/GLY	1764,2642	643.9+/-397.9	352,1060,791	191	146	161		673	1.2	0	1	dbSNP_125	161	4894,3706	530.1+/-381.7	1390,2114,796	yes	missense	OR14C36	NM_001001918.1	125	1742,3174,1587	AA,AG,GG		43.093,40.0363,48.8082	benign	225/313	248512749	6658,6348	2203	4300	6503	SO:0001583	missense	127066			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.673G>A	1.37:g.248512749G>A	ENSP00000324534:p.Gly225Arg		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	CCDS31112.1	1006	0.4606227106227106	169	0.3434959349593496	179	0.494475138121547	253	0.4423076923076923	405	0.5343007915567283	A	0.005	-2.203520	0.00296	0.400363	0.56907	ENSG00000177174	ENST00000317861	T	0.00019	9.06	3.91	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.422559	0.19555	N	0.111462	T	0.00012	0.0000	N	0.00227	-1.8	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.37776	-0.9691	9	0.02654	T	1	.	6.3589	0.21417	0.6176:0.2982:0.0841:0.0	rs28377739	225	Q8NHC7	O14CZ_HUMAN	R	225	ENSP00000324534:G225R	ENSP00000324534:G225R	G	+	1	0	OR14C36	246579372	0.000000	0.05858	0.035000	0.18076	0.144000	0.21451	0.145000	0.16157	0.101000	0.17610	-1.086000	0.02197	GGG		0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		A	248512749	G	A	248512749	3	1	64	1	0	0	0	0	1	0	0	0	10946	1116	39	1	675	1	OR14C36	1	248512749	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	58445184	248512749	737872	6	6204											
XDH	7498	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	31621476	31621476	+	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	atctcctccatggtgggctcGggctgattccggagcagtgt	5	11	14	11	2	1	1	0	1	1	0	5	2	3	2	3	4	1	3	3	4	0	1			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:31621476G>A	ENST00000379416.3	-	5	444	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	132					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)	TGGTGGGCTCGGGCTGATTCC	0.567																																					Colon(66;682 1445 30109 40147)	.											0													130	123	125					2																	31621476		2203	4300	6503	SO:0001819	synonymous_variant	7498			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.396C>T	2.37:g.31621476G>A			Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																				0.567	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31621476	G	A	31621476	2	1	64	1	0	0	0	0	0	0	0	1	17423	1103	39	1		1	XDH	2	31621476	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10		31621476	211577897	7	6205											
TEKT4	150483	mdanderson.org	37	chr2	95539855	95539855	+	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	ccaccaccttccaagagaggTgggccccagctctgcccctg	7	6	10	18	0	1	1	0	0	1	1	2	2	2	1	8	2	2	1	8	2	1	1	rs201662522	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:95539855T>G	ENST00000295201.4	+	3	850		c.e3+2		AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4						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						CCAAGAGAGGTGGGCCCCAGC	0.682																																						.											0													56	54	55					2																	95539855		2203	4300	6503	SO:0001630	splice_region_variant	150483			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.713+2T>G	2.37:g.95539855T>G				Splice_Site	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.316724	0.40996	.	.	ENSG00000163060	ENST00000295201	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0143	0.30372	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEKT4	94903582	1.000000	0.71417	0.603000	0.28903	0.057000	0.15508	4.740000	0.62087	0.779000	0.33543	0.254000	0.18369	.		0.682	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	Intron	G	95539855	T	G	95539855	5	3	64	1	0	0	0	0	0	0	1	0	15752	1710	59	5	725	5	TEKT4	2	95539855	Splice_Site	SNP	T	TCGA-KO-8415-01A-11D-2310-10	63918379	95539855	147659518	8	6206											
GTDC1	79712	broad.mit.edu	37	chr2	144765015	144765015	+	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	tctctctgctctggctgaaaAggaagggccatggacagaac	11	8	12	10	0	3	2	0	1	3	1	4	4	3	4	1	4	2	2	1	4	4	0			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:144765015A>G	ENST00000392869.2	-	6	761	c.609T>C	c.(607-609)ccT>ccC	p.P203P	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000344850.4_Silent_p.P203P|GTDC1_ENST00000542155.1_Silent_p.P203P|GTDC1_ENST00000392867.3_Silent_p.P203P|GTDC1_ENST00000409214.1_Silent_p.P203P|GTDC1_ENST00000241391.5_Silent_p.P203P|GTDC1_ENST00000463875.2_Silent_p.P74P	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	203					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CTGGCTGAAAAGGAAGGGCCA	0.423																																						.											0													77	78	77					2																	144765015		2203	4300	6503	SO:0001819	synonymous_variant	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.609T>C	2.37:g.144765015A>G			A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	37	CCDS33300.1																																																																																				0.423	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		G	144765015	A	G	144765015	2	3	64	1	0	0	0	0	0	0	0	1	6851	59	3	2		2	GTDC1	2	144765015	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10	49225160	144765015	98434358	9	6207											
TNS1	7145	broad.mit.edu	37	chr2	218713275	218713275	+	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	agggcctctgggtagcccccCtcactggtgttggtgacccc	4	9	13	15	0	2	1	1	1	1	0	2	1	2	1	6	4	1	2	6	4	1	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:218713275C>T	ENST00000171887.4	-	17	2042	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E	TNS1_ENST00000419504.1_Silent_p.E530E|TNS1_ENST00000430930.1_Silent_p.E530E|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	530					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)		GGTAGCCCCCCTCACTGGTGT	0.592																																						.											0													64	69	67					2																	218713275		2203	4300	6503	SO:0001819	synonymous_variant	7145			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.1590G>A	2.37:g.218713275C>T			Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218713275	C	T	218713275	2	4	64	1	0	0	0	0	0	0	0	1	16340	680	24	4		4	TNS1	2	218713275	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	73948260	218713275	24486098	10	6208											
USP37	57695	broad.mit.edu	37	chr2	219350461	219350461	+	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	tcacaagaatactccagttcTtcggcctataaaaagaagga	16	9	7	9	1	2	2	1	0	1	2	4	3	3	3	2	2	1	1	2	2	8	5			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr2:219350461T>C	ENST00000258399.3	-	16	2008	c.1596A>G	c.(1594-1596)gaA>gaG	p.E532E	USP37_ENST00000454775.1_Silent_p.E532E|USP37_ENST00000415516.1_Silent_p.E460E|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000418019.1_Silent_p.E532E	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	532	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACTCCAGTTCTTCGGCCTATA	0.333																																						.											0													104	109	107					2																	219350461		2203	4300	6503	SO:0001819	synonymous_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1596A>G	2.37:g.219350461T>C			A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	CCDS2418.1																																																																																				0.333	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		C	219350461	T	C	219350461	2	2	64	1	0	0	0	0	0	0	0	1	17065	1606	56	2		2	USP37	2	219350461	Silent	SNP	T	TCGA-KO-8415-01A-11D-2310-10	637186	219350461	23848912	11	6209											
OR5H1	26341	broad.mit.edu	37	chr3	97851659	97851659	+	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	taatatatctcatcaccatcAtggggaatcttggtctgatt	11	15	7	8	0	5	1	3	1	3	0	6	2	5	2	1	3	0	0	1	3	4	5	rs199787047	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr3:97851659A>T	ENST00000354565.2	+	1	118	c.118A>T	c.(118-120)Atg>Ttg	p.M40L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40L(3)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCACCATCATGGGGAATCT	0.413																																						.											3	Substitution - Missense(3)	kidney(2)|endometrium(1)											45	49	48					3																	97851659		2174	4242	6416	SO:0001583	missense	26341			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.118A>T	3.37:g.97851659A>T	ENSP00000346575:p.Met40Leu			Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	3.067	-0.192020	0.06299	.	.	ENSG00000231192	ENST00000354565	T	0.00241	8.46	3.63	-0.16	0.13375	.	0.578292	0.14348	N	0.325303	T	0.00073	0.0002	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04976	-1.0914	10	0.33940	T	0.23	.	7.0903	0.25279	0.5661:0.0:0.4339:0.0	.	40	A6NKK0	OR5H1_HUMAN	L	40	ENSP00000346575:M40L	ENSP00000346575:M40L	M	+	1	0	OR5H1	99334349	0.000000	0.05858	0.016000	0.15963	0.102000	0.19082	-3.263000	0.00535	-0.297000	0.08934	0.164000	0.16699	ATG		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97851659	A	T	97851659	3	4	64	1	0	0	0	0	1	0	0	0	11159	217	8	5	120	5	OR5H1	3	97851659	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10		97851659	100170771	12	6210											
ARGFX	503582	bcgsc.ca	37	chr3	121304933	121304933	+	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	gcagcaatcagcaaagcaacGaaaccagatccttccatcca	16	5	6	14	1	1	1	1	0	0	1	4	2	4	1	4	0	5	4	4	0	4	1	rs9813391	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr3:121304933G>A	ENST00000334384.3	+	4	444	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	145			R -> Q (in dbSNP:rs9813391).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCAAAGCAACGAAACCAGATC	0.502													G|||	857	0.171126	0.1127	0.4438	5008	,	,		19879	0.0506		0.2545	False		,,,				2504	0.0951					.											0								G	GLN/ARG	613,3793	263.1+/-265.3	38,537,1628	123	113	116		434	-0.9	0	3	dbSNP_119	116	2371,6229	390.0+/-343.1	324,1723,2253	yes	missense	ARGFX	NM_001012659.1	43	362,2260,3881	AA,AG,GG		27.5698,13.9128,22.9433	benign	145/316	121304933	2984,10022	2203	4300	6503	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.434G>A	3.37:g.121304933G>A	ENSP00000335578:p.Arg145Gln			Missense_Mutation	SNP	ENST00000334384.3	37	CCDS33834.1	440	0.20146520146520147	64	0.13008130081300814	142	0.39226519337016574	30	0.05244755244755245	204	0.2691292875989446	G	0.150	-1.091973	0.01858	0.139128	0.275698	ENSG00000186103	ENST00000334384	D	0.88354	-2.37	3.32	-0.937	0.10415	.	1.246050	0.06010	N	0.649304	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.16396	0.017	B	0.04013	0.001	T	0.04165	-1.0972	9	0.10111	T	0.7	-0.0198	2.7093	0.05170	0.1684:0.3796:0.344:0.108	rs9813391;rs17741793;rs52830852;rs9813391	145	A6NJG6	ARGFX_HUMAN	Q	145	ENSP00000335578:R145Q	ENSP00000335578:R145Q	R	+	2	0	ARGFX	122787623	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.293000	0.08320	-0.190000	0.10465	-0.270000	0.10280	CGA		0.502	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		A	121304933	G	A	121304933	3	1	64	1	0	0	0	0	1	0	0	0	859	1058	37	1	448	1	ARGFX	3	121304933	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	23453274	121304933	76717497	13	6211											
F2R	2149	broad.mit.edu	37	chr5	76029194	76029194	+	Missense_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	cctctgagtgccagaggtacGtctacagtatcttatgctgc	8	12	10	11	1	3	2	0	1	3	1	3	2	3	2	2	1	5	3	2	1	4	4			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr5:76029194G>A	ENST00000319211.4	+	2	1409	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	382					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|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 cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|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 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCAGAGGTACGTCTACAGTAT	0.473																																						.											0													115	115	115					5																	76029194		2203	4300	6503	SO:0001583	missense	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.1144G>A	5.37:g.76029194G>A	ENSP00000321326:p.Val382Ile		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	G	5.320	0.244382	0.10077	.	.	ENSG00000181104	ENST00000319211	T	0.37752	1.18	4.79	3.91	0.45181	.	0.136796	0.49305	D	0.000147	T	0.19765	0.0475	N	0.14661	0.345	0.80722	D	1	B	0.18310	0.027	B	0.08055	0.003	T	0.04930	-1.0917	10	0.45353	T	0.12	-25.1425	7.4328	0.27137	0.0:0.707:0.1446:0.1484	.	382	P25116	PAR1_HUMAN	I	382	ENSP00000321326:V382I	ENSP00000321326:V382I	V	+	1	0	F2R	76064950	1.000000	0.71417	0.923000	0.36655	0.445000	0.32107	1.883000	0.39658	1.368000	0.46115	-0.539000	0.04255	GTC		0.473	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			A	76029194	G	A	76029194	3	1	64	1	0	0	0	0	1	0	0	0	5343	1145	40	1	1150	1	F2R	5	76029194	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		76029194	104886066	14	6212											
GPR98	84059	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	89981756	89981756	+	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	caatgtgactagaacaggagGagcatttgcagatgtctctg	12	10	12	7	0	1	3	0	1	1	2	2	5	1	5	0	2	3	2	0	2	3	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr5:89981756G>A	ENST00000405460.2	+	29	6530	c.6434G>A	c.(6433-6435)gGa>gAa	p.G2145E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2145	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAACAGGAGGAGCATTTGCA	0.418																																						.											0													84	75	78					5																	89981756		1914	4129	6043	SO:0001583	missense	84059			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.6434G>A	5.37:g.89981756G>A	ENSP00000384582:p.Gly2145Glu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164873	0.94727	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.37411	1.2	5.59	5.59	0.84812	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69702	-0.5074	10	0.54805	T	0.06	.	19.5929	0.95523	0.0:0.0:1.0:0.0	.	2145	Q8WXG9	GPR98_HUMAN	E	2145	ENSP00000384582:G2145E	ENSP00000296619:G2145E	G	+	2	0	GPR98	90017512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.624000	0.98398	2.626000	0.88956	0.591000	0.81541	GGA		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89981756	G	A	89981756	3	1	64	1	0	0	0	0	1	0	0	0	6721	1174	41	3	6548	3	GPR98	5	89981756	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	13952562	89981756	90933504	15	6213											
PCDHGA4	56111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr5	140736273	140736273	+	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	ttccagggtgcacctctgtcCtcctatgtctccatcaactc	6	13	6	16	0	3	0	1	0	2	0	8	0	6	0	5	1	2	1	5	1	2	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr5:140736273C>T	ENST00000571252.1	+	1	1506	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	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	502	Cadherin 5. {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)			CACCTCTGTCCTCCTATGTCT	0.512																																						.											0													128	135	133					5																	140736273		2096	4248	6344	SO:0001819	synonymous_variant	56111			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.1506C>T	5.37:g.140736273C>T			Q9Y5D3	Silent	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.512	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140736273	C	T	140736273	2	4	64	1	0	0	0	0	0	0	0	1	11556	668	24	4		4	PCDHGA4	5	140736273	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	50754517	140736273	40178987	16	6214											
RANBP17	64901	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	170725856	170725856	+	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	ccatgcagtctcgacatgatGagctgacccgacttttctga	9	11	9	12	2	2	4	0	4	2	0	3	6	2	4	2	0	2	2	2	0	0	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr5:170725856G>A	ENST00000523189.1	+	28	3425	c.3261G>A	c.(3259-3261)atG>atA	p.M1087I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1087					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)			TCGACATGATGAGCTGACCCG	0.517			T	TRD@	ALL																																	.		Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													104	85	91					5																	170725856		2203	4300	6503	SO:0001583	missense	64901			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.3261G>A	5.37:g.170725856G>A	ENSP00000427975:p.Met1087Ile		Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669902	0.47677	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.22743	1.94	5.87	5.87	0.94306	.	0.148962	0.48286	D	0.000195	T	0.20373	0.0490	L	0.38175	1.15	0.35735	D	0.818246	B	0.30793	0.295	B	0.27608	0.081	T	0.09907	-1.0653	10	0.49607	T	0.09	-17.8979	17.9912	0.89170	0.0:0.0:1.0:0.0	.	1087	Q9H2T7	RBP17_HUMAN	I	1087;517	ENSP00000427975:M1087I	ENSP00000427975:M1087I	M	+	3	0	RANBP17	170658461	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.541000	0.82084	2.785000	0.95823	0.655000	0.94253	ATG		0.517	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		A	170725856	G	A	170725856	3	1	64	1	0	0	0	0	1	0	0	0	13027	1290	45	4	3371	4	RANBP17	5	170725856	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	29989583	170725856	10189404	17	6215											
MDC1	9656	ucsc.edu	37	chr6	30681950	30681950	+	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	accacattcttcccgaggtgTagtgggaaatctaagaatta	13	11	9	8	1	2	1	0	0	2	1	3	3	3	2	2	2	0	1	2	2	5	5			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr6:30681950T>C	ENST00000376406.3	-	3	794	c.147A>G	c.(145-147)ctA>ctG	p.L49L	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.L49L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	49	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCCCGAGGTGTAGTGGGAAAT	0.463								Other conserved DNA damage response genes																														.											0													42	40	41					6																	30681950		1506	2696	4202	SO:0001819	synonymous_variant	9656			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.147A>G	6.37:g.30681950T>C			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	CCDS34384.1																																																																																				0.463	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		C	30681950	T	C	30681950	2	2	64	1	0	0	0	0	0	0	0	1	9403	1625	57	2		2	MDC1	6	30681950	Silent	SNP	T	TCGA-KO-8415-01A-11D-2310-10		30681950	140433117	18	6216											
SLC26A8	116369	bcgsc.ca	37	chr6	35918965	35918965	+	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	ctgtttctgagtaggtttccCgtatcactgtctcggattca	6	16	9	10	2	4	1	2	1	2	0	6	2	5	2	1	2	0	4	1	2	2	5	rs116200048|rs35886585	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr6:35918965C>T	ENST00000490799.1	-	19	2800	c.2447G>A	c.(2446-2448)cGg>cAg	p.R816Q	SLC26A8_ENST00000394602.2_Missense_Mutation_p.R711Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R816Q	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						GTAGGTTTCCCGTATCACTGT	0.542													C|||	10	0.00199681	0	0.0043	5008	,	,		16596	0		0.007	False		,,,				2504	0					.											0								C	GLN/ARG,GLN/ARG,GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	140	119	126		2447,2447,2132	1.3	1	6	dbSNP_132	126	93,8507	51.9+/-112.3	1,91,4208	yes	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	43,43,43	1,98,6404	TT,TC,CC		1.0814,0.1589,0.7689	benign,benign,benign	816/971,816/971,711/866	35918965	100,12906	2203	4300	6503	SO:0001583	missense	116369			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.2447G>A	6.37:g.35918965C>T	ENSP00000417638:p.Arg816Gln			Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	4.362	0.066653	0.08388	0.001589	0.010814	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94457	-3.13;-3.43;-3.13	5.42	1.33	0.21861	.	0.337736	0.25810	N	0.028143	T	0.56688	0.2002	N	0.01048	-1.04	0.26909	N	0.966934	B;B;B	0.12013	0.003;0.005;0.005	B;B;B	0.06405	0.001;0.001;0.002	T	0.62248	-0.6894	10	0.02654	T	1	.	7.521	0.27629	0.0:0.2612:0.0:0.7388	.	816;711;398	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	Q	816;711;816	ENSP00000417638:R816Q;ENSP00000378100:R711Q;ENSP00000347778:R816Q	ENSP00000347778:R816Q	R	-	2	0	SLC26A8	36026943	0.997000	0.39634	0.999000	0.59377	0.902000	0.53008	0.352000	0.20113	0.084000	0.17077	-0.290000	0.09829	CGG		0.542	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			T	35918965	C	T	35918965	3	4	64	1	0	0	0	0	1	0	0	0	14523	652	23	1	473	1	SLC26A8	6	35918965	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	5237015	35918965	135196102	19	6217											
TREML1	340205	broad.mit.edu	37	chr6	41121543	41121543	+	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	tgtgcaaaatctggggccccCtggccccatccaccatgcag	8	7	10	16	0	1	0	0	0	1	0	2	0	2	0	6	3	2	2	6	3	2	0			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr6:41121543C>T	ENST00000426005.2	-	2	372	c.329G>A	c.(328-330)aGg>aAg	p.R110K	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000373127.4_Missense_Mutation_p.R110K	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	110	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)		p.R110K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGGGCCCCCTGGCCCCATC	0.602																																						.											1	Substitution - Missense(1)	ovary(1)											46	53	51					6																	41121543		2203	4300	6503	SO:0001583	missense	340205			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.329G>A	6.37:g.41121543C>T	ENSP00000402855:p.Arg110Lys		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	C	1.289	-0.608158	0.03717	.	.	ENSG00000161911	ENST00000373127;ENST00000426005	T;T	0.21932	1.98;1.98	6.08	-2.33	0.06724	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.389720	0.01192	N	0.007343	T	0.01627	0.0052	N	0.08118	0	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	10	0.05525	T	0.97	.	0.6503	0.00825	0.2664:0.1127:0.2842:0.3367	.	110;110	Q86YW5;Q86YW5-2	TRML1_HUMAN;.	K	110	ENSP00000362219:R110K;ENSP00000402855:R110K	ENSP00000362219:R110K	R	-	2	0	TREML1	41229521	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.513000	0.06305	-0.872000	0.04037	-2.175000	0.00321	AGG		0.602	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		T	41121543	C	T	41121543	3	4	64	1	0	0	0	0	1	0	0	0	16469	681	24	4	624	4	TREML1	6	41121543	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	5202578	41121543	129993524	20	6218											
C6orf150	115004	mdanderson.org	37	chr6	74161503	74161503	+	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	acgtcccagggcccgggcggAggtcttggcttcgtggagca	5	7	17	12	4	1	0	0	0	1	0	3	2	2	2	2	6	1	2	2	6	0	2	rs9446904	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr6:74161503A>G	ENST00000370315.3	-	1	496	c.402T>C	c.(400-402)ccT>ccC	p.P134P	MB21D1_ENST00000370318.1_Silent_p.P134P	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	134					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						GCCCGGGCGGAGGTCTTGGCT	0.751													G|||	4499	0.898363	0.8949	0.8674	5008	,	,		11256	0.9484		0.8579	False		,,,				2504	0.9151					.											0								G		3318,426		1470,378,24	4	5	4		402	-3	0	6	dbSNP_119	4	6360,1026		2732,896,65	no	coding-synonymous	MB21D1	NM_138441.2		4202,1274,89	GG,GA,AA		13.8911,11.3782,13.0458		134/523	74161503	9678,1452	1872	3693	5565	SO:0001819	synonymous_variant	115004			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.402T>C	6.37:g.74161503A>G			L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	CCDS4978.1																																																																																				0.751	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		G	74161503	A	G	74161503	2	3	64	1	0	0	0	0	0	0	0	1	2337	291	11	2		2	C6orf150	6	74161503	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10	33039960	74161503	96953564	21	6219											
RSPH10B	222967	mdanderson.org	37	chr7	5983092	5983092	+	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	gagcgtccgctgttgctcacGgaataaattgcctaaaaata	13	10	9	9	3	1	0	1	0	0	0	2	2	2	1	2	1	3	3	2	1	7	5	rs201187545		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:5983092G>A	ENST00000405415.1	-	14	2007	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C	RSPH10B_ENST00000404406.1_Missense_Mutation_p.R541C|RSPH10B_ENST00000337579.3_Missense_Mutation_p.R541C|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000441023.2_Missense_Mutation_p.R541C|RSPH10B_ENST00000539903.1_Missense_Mutation_p.P280L			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	541										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGTTGCTCACGGAATAAATTG	0.388																																						.											0													28	28	28					7																	5983092		2142	4274	6416	SO:0001583	missense	728194				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.1621C>T	7.37:g.5983092G>A	ENSP00000385443:p.Arg541Cys		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	10|10	0.004578754578754579|0.004578754578754579	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	0|0	0.0|0.0	6|6	0.0079155672823219|0.0079155672823219	G|G	10.49|10.49	1.366017|1.366017	0.24684|0.24684	.|.	.|.	ENSG00000155026|ENSG00000155026	ENST00000539903|ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	T|T;T;T;T	0.62639|0.51817	0.01|0.69;0.69;0.69;0.69	3.38|3.38	-4.94|-4.94	0.03057|0.03057	.|.	.|1.615010	.|0.03267	.|N	.|0.184174	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.00436|0.00436	-1.5|-1.5	0.31735|0.31735	N|N	0.636584|0.636584	.|B;B;B	.|0.12630	.|0.006;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.0	T|T	0.13469|0.13469	-1.0508|-1.0508	7|10	0.87932|0.37606	D|T	0|0.19	.|.	6.042|6.042	0.19740|0.19740	0.5682:0.0:0.26:0.1718|0.5682:0.0:0.26:0.1718	.|.	.|242;541;400	.|B7Z298;P0C881;F5GXE3	.|.;R10B1_HUMAN;.	L|C	280|541;541;541;400;541	ENSP00000445203:P280L|ENSP00000385443:R541C;ENSP00000384097:R541C;ENSP00000338556:R541C;ENSP00000400988:R541C	ENSP00000440914:P323L|ENSP00000338556:R541C	P|R	-|-	2|1	0|0	RSPH10B|RSPH10B	5949618|5949618	0.026000|0.026000	0.19158|0.19158	0.142000|0.142000	0.22268|0.22268	0.069000|0.069000	0.16628|0.16628	-0.149000|-0.149000	0.10204|0.10204	-0.612000|-0.612000	0.05701|0.05701	-1.143000|-1.143000	0.01870|0.01870	CCG|CGT		0.388	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		A	5983092	G	A	5983092	3	1	64	1	0	0	0	0	1	0	0	0	13703	1116	39	1	1019	1	RSPH10B	7	5983092	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		5983092	153155571	22	6220											
SP8	221833	mdanderson.org	37	chr7	20824614	20824614	+	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	aaggccgagtgactcaggccCgagtaatccgagttgtagcc	10	7	13	11	3	1	1	1	1	0	0	2	4	2	1	4	2	1	3	4	2	3	3	rs34908430	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:20824614C>T	ENST00000361443.4	-	3	1005	c.768G>A	c.(766-768)tcG>tcA	p.S256S	SP8_ENST00000418710.2_Silent_p.S274S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	256					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						GACTCAGGCCCGAGTAATCCG	0.706													c|||	1351	0.269768	0.0635	0.379	5008	,	,		12232	0.3958		0.2893	False		,,,				2504	0.3211					.											0								C	,	317,3303		22,273,1515	5	6	5		822,768	-5.1	1	7	dbSNP_126	5	1820,5582		247,1326,2128	no	coding-synonymous,coding-synonymous	SP8	NM_182700.4,NM_198956.2	,	269,1599,3643	TT,TC,CC		24.5879,8.7569,19.3885	,	274/509,256/491	20824614	2137,8885	1810	3701	5511	SO:0001819	synonymous_variant	221833				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.768G>A	7.37:g.20824614C>T			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	CCDS5372.1																																																																																				0.706	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			T	20824614	C	T	20824614	2	4	64	1	0	0	0	0	0	0	0	1	14970	639	23	1		1	SP8	7	20824614	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	14841522	20824614	138314049	23	6221											
FKBP9	11328	mdanderson.org	37	chr7	33044951	33044951	+	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	aaagaccaggaagccaaacaCgatgaactctaaacctggca	18	4	8	11	1	1	2	0	1	1	1	1	4	1	3	3	2	4	1	3	2	6	1			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:33044951C>G	ENST00000242209.4	+	10	1870	c.1701C>G	c.(1699-1701)caC>caG	p.H567Q	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.H335Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.H620Q|FKBP9_ENST00000538443.1_Missense_Mutation_p.H429Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	567	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AAGCCAAACACGATGAACTCT	0.517																																						.											0													152	109	124					7																	33044951		2203	4300	6503	SO:0001583	missense	11328			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1701C>G	7.37:g.33044951C>G	ENSP00000242209:p.His567Gln		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365781	0.61513	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.58060	0.36;0.38;0.4;0.36	5.07	-3.51	0.04696	.	.	.	.	.	T	0.69806	0.3152	.	.	.	0.58432	D	0.999995	D;D;P	0.89917	0.999;1.0;0.86	D;D;B	0.87578	0.993;0.998;0.401	T	0.71185	-0.4667	8	0.72032	D	0.01	-9.9572	14.0577	0.64779	0.0:0.4114:0.0:0.5886	.	335;620;567	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	Q	567;620;429;335	ENSP00000242209:H567Q;ENSP00000439250:H620Q;ENSP00000437504:H429Q;ENSP00000441317:H335Q	ENSP00000242209:H567Q	H	+	3	2	FKBP9	33011476	0.024000	0.19004	0.835000	0.33067	0.918000	0.54935	-0.859000	0.04277	-1.301000	0.02338	-0.266000	0.10368	CAC		0.517	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		G	33044951	C	G	33044951	3	3	64	1	0	0	0	0	1	0	0	0	5915	535	19	5	1739	5	FKBP9	7	33044951	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	12220337	33044951	126093712	24	6222											
CHCHD2	51142	broad.mit.edu	37	chr7	56172050	56172050	+	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	tgcagtggttgccatctgggCcatcagacctggctgccggg	5	9	15	12	1	2	1	1	0	1	1	2	1	2	1	4	4	3	3	4	4	0	1			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:56172050C>T	ENST00000395422.3	-	2	331	c.169G>A	c.(169-171)Gcc>Acc	p.A57T		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	57						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCATCTGGGCCATCAGACCT	0.647																																						.											0													20	21	21					7																	56172050		2198	4289	6487	SO:0001583	missense	51142			AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.169G>A	7.37:g.56172050C>T	ENSP00000378812:p.Ala57Thr		Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298530	0.95574	.	.	ENSG00000106153	ENST00000395422	T	0.48522	0.81	5.62	4.74	0.60224	.	0.051128	0.85682	D	0.000000	T	0.74168	0.3681	M	0.92970	3.365	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.81656	-0.0834	10	0.66056	D	0.02	.	15.123	0.72460	0.1425:0.8575:0.0:0.0	.	57	Q9Y6H1	CHCH2_HUMAN	T	57	ENSP00000378812:A57T	ENSP00000378812:A57T	A	-	1	0	CHCHD2	56139544	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.926000	0.70070	1.378000	0.46305	-0.152000	0.13540	GCC		0.647	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		T	56172050	C	T	56172050	3	4	64	1	0	0	0	0	1	0	0	0	3316	739	26	3	298	3	CHCHD2	7	56172050	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	23127099	56172050	102966613	25	6223											
DYNC1I1	1780	ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	95668630	95668630	+	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	ctttgaaggtcaccaagggcCagtgacaggaattaactgcc	12	8	11	10	0	1	2	1	2	0	0	1	3	1	3	3	3	2	0	3	3	4	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr7:95668630C>A	ENST00000324972.6	+	14	1650	c.1457C>A	c.(1456-1458)cCa>cAa	p.P486Q	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P466Q|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P449Q|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P469Q|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P469Q|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P449Q	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	486					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)			CACCAAGGGCCAGTGACAGGA	0.478																																						.											0													151	142	145					7																	95668630		2203	4300	6503	SO:0001583	missense	1780			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.1457C>A	7.37:g.95668630C>A	ENSP00000320130:p.Pro486Gln		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622230	0.87460	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	4.94	4.94	0.65067	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	0.78291	0.4260	M	0.82132	2.575	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;0.998;0.998;0.998;0.993	T	0.81095	-0.1088	10	0.87932	D	0	-20.6976	18.7491	0.91806	0.0:1.0:0.0:0.0	.	469;466;469;486;449	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	Q	469;486;449;466;449;469	ENSP00000392337:P469Q;ENSP00000320130:P486Q;ENSP00000438377:P449Q;ENSP00000398118:P466Q;ENSP00000352348:P449Q;ENSP00000412444:P469Q	ENSP00000320130:P486Q	P	+	2	0	DYNC1I1	95506566	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.651000	0.83577	2.753000	0.94483	0.557000	0.71058	CCA		0.478	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		A	95668630	C	A	95668630	3	1	64	1	0	0	0	0	1	0	0	0	4842	594	21	5	1507	5	DYNC1I1	7	95668630	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	39496580	95668630	63470033	26	6224											
CSMD1	64478	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr8	3263582	3263582	+	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	cacggtggagctccagaccaCgttcccgtcttgcagtatgc	7	9	11	14	3	1	1	0	0	1	1	3	2	3	2	3	2	3	4	3	2	1	3			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:3263582C>T	ENST00000520002.1	-	16	2791	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	CSMD1_ENST00000537824.1_Missense_Mutation_p.V745M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V746M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V746M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V745M|CSMD1_ENST00000539096.1_Missense_Mutation_p.V745M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V746M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	746	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCAGACCACGTTCCCGTCT	0.552																																						.											0													58	60	59					8																	3263582		1985	4175	6160	SO:0001583	missense	64478					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.2236G>A	8.37:g.3263582C>T	ENSP00000430733:p.Val746Met		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803832|4.803832	0.90623|0.90623	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12;-0.12	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.78000|0.78000	0.4215|0.4215	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.77892|0.77892	-0.2418|-0.2418	5|10	.|0.49607	.|T	.|0.09	.|.	19.0906|19.0906	0.93225|0.93225	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|746;746	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	H|M	225|746;746;608;745;745;745	.|ENSP00000383047:V746M;ENSP00000430733:V746M;ENSP00000441462:V745M;ENSP00000446243:V745M;ENSP00000441675:V745M	.|ENSP00000320445:V608M	R|V	-|-	2|1	0|0	CSMD1|CSMD1	3250989|3250989	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.856000|0.856000	0.48823|0.48823	7.618000|7.618000	0.83043|0.83043	2.486000|2.486000	0.83907|0.83907	0.591000|0.591000	0.81541|0.81541	CGT|GTG		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3263582	C	T	3263582	3	4	64	1	0	0	0	0	1	0	0	0	3944	536	19	1	8685	1	CSMD1	8	3263582	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10		3263582	143100440	27	6225											
GPR124	25960	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	37688272	37688272	+	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	accacctcatcccgtccctaCgccaagtggtgttccagggg	7	8	10	16	2	1	0	1	0	0	0	4	0	4	0	6	3	1	1	6	3	2	2	rs144591273		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:37688272C>T	ENST00000412232.2	+	7	776	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	GPR124_ENST00000315215.7_Missense_Mutation_p.R255C	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	255	Ig-like.				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)			CCCGTCCCTACGCCAAGTGGT	0.657																																						.											0								C	CYS/ARG	1,4399		0,1,2199	81	52	62		763	5.2	1	8	dbSNP_134	62	1,8597		0,1,4298	no	missense	GPR124	NM_032777.9	180	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	255/1339	37688272	2,12996	2200	4299	6499	SO:0001583	missense	25960			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.763C>T	8.37:g.37688272C>T	ENSP00000406367:p.Arg255Cys		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451640	0.84209	2.27E-4	1.16E-4	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.60299	0.2;0.25	5.19	5.19	0.71726	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.135299	0.51477	D	0.000096	T	0.76111	0.3942	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.97	T	0.78553	-0.2160	10	0.66056	D	0.02	-37.0163	18.7204	0.91691	0.0:1.0:0.0:0.0	.	255;255	Q96PE1-2;Q96PE1	.;GP124_HUMAN	C	248;255;255	ENSP00000323508:R255C;ENSP00000406367:R255C	ENSP00000323508:R255C	R	+	1	0	GPR124	37807430	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.846000	0.55888	2.429000	0.82318	0.655000	0.94253	CGC		0.657	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37688272	C	T	37688272	3	4	64	1	0	0	0	0	1	0	0	0	6638	536	19	1	768	1	GPR124	8	37688272	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	34424690	37688272	108675750	28	6226											
TG	7038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr8	134145788	134145788	+	Missense_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	ctggcctgactttgtaccccGtgctggtggagagaactaca	8	10	12	11	1	0	2	0	1	0	1	0	4	0	3	3	3	4	2	3	3	3	3	rs531167775		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:134145788G>A	ENST00000220616.4	+	47	8112	c.8072G>A	c.(8071-8073)cGt>cAt	p.R2691H	TG_ENST00000542445.1_Missense_Mutation_p.R1061H|TG_ENST00000519543.1_Missense_Mutation_p.R824H|TG_ENST00000377869.1_Missense_Mutation_p.R2634H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2691					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTGTACCCCGTGCTGGTGGA	0.502													G|||	1	0.000199681	0	0	5008	,	,		19855	0		0	False		,,,				2504	0.001					.											0													124	116	119					8																	134145788		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8072G>A	8.37:g.134145788G>A	ENSP00000220616:p.Arg2691His		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.459928	0.00171	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;1.0	4.84	-3.18	0.05186	Carboxylesterase, type B (1);	1.420510	0.04377	N	0.360115	T	0.37839	0.1018	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.41251	-0.9519	10	0.02654	T	1	.	7.5366	0.27714	0.5152:0.1139:0.3709:0.0	.	824;1061;2691	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	H	2634;1497;2691;810;1061;824;95	ENSP00000367100:R2634H;ENSP00000220616:R2691H;ENSP00000441693:R1061H;ENSP00000430430:R824H;ENSP00000430161:R95H	ENSP00000220616:R2691H	R	+	2	0	TG	134214970	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.194000	0.09559	-0.692000	0.05128	-1.134000	0.01955	CGT		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134145788	G	A	134145788	3	1	64	1	0	0	0	0	1	0	0	0	15810	1145	40	1	8258	1	TG	8	134145788	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	96457516	134145788	12218234	29	6227											
PTK2	5747	hgsc.bcm.edu;bcgsc.ca	37	chr8	141856698	141856698	+	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	atgtatagttatcatcttacCgtatttctagacaacccaac	13	14	4	10	1	3	1	1	0	2	1	3	1	3	1	2	0	3	3	2	0	8	7			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000340930.3_Splice_Site_p.R177Q|PTK2_ENST00000535192.1_Splice_Site_p.R177Q|PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q|PTK2_ENST00000517887.1_Splice_Site_p.R221Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			ATCATCTTACCGTATTTCTAG	0.323																																						.											0													106	99	102					8																	141856698		2203	4300	6503	SO:0001630	splice_region_variant	5747			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.530+1G>A	8.37:g.141856698C>T			B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496021	0.96355	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000524357	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.03	5.35	5.35	0.76521	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	0.85691	0.5755	M	0.82193	2.58	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;0.997;0.999;0.996;0.997;0.998	D	0.86495	0.1800	9	.	.	.	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	177;84;177;199;177;88	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	Q	177;177;221;177;87;177;84;177;221;92	ENSP00000429911:R177Q;ENSP00000438009:R177Q;ENSP00000429082:R221Q;ENSP00000429474:R177Q;ENSP00000378644:R177Q;ENSP00000341189:R177Q;ENSP00000429129:R221Q;ENSP00000429001:R92Q	.	R	-	2	0	PTK2	141925880	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.631000	0.74277	2.504000	0.84457	0.484000	0.47621	CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGA		0.323	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	Missense_Mutation	T	141856698	C	T	141856698	5	4	64	1	0	0	0	0	0	0	1	0	12762	666	23	1	2736	1	PTK2	8	141856698	Splice_Site	SNP	C	TCGA-KO-8415-01A-11D-2310-10	7710910	141856698	4507324	30	6228											
PLEC	5339	mdanderson.org	37	chr8	144996263	144996263	+	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	ctgccgccgctgctgctccaGctgctgcagctcctcctgct	2	10	10	19	2	0	0	0	0	0	0	3	0	3	0	5	0	8	8	5	0	0	0	rs11988293	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr8:144996263G>A	ENST00000322810.4	-	32	8306	c.8137C>T	c.(8137-8139)Ctg>Ttg	p.L2713L	PLEC_ENST00000356346.3_Silent_p.L2562L|PLEC_ENST00000345136.3_Silent_p.L2576L|PLEC_ENST00000354589.3_Silent_p.L2576L|PLEC_ENST00000354958.2_Silent_p.L2554L|PLEC_ENST00000398774.2_Silent_p.L2544L|PLEC_ENST00000357649.2_Silent_p.L2580L|PLEC_ENST00000527096.1_Silent_p.L2599L|PLEC_ENST00000436759.2_Silent_p.L2603L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2713	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						tgctgctccagctgctgcagc	0.721													G|||	268	0.0535144	0.1952	0.013	5008	,	,		15052	0		0.001	False		,,,				2504	0					.											0								G	,,,,,,,	677,3429		38,601,1414	5	6	5		7807,7684,7660,8137,7630,7726,7738,7726	3.2	0.7	8	dbSNP_120	5	6,7986		0,6,3990	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,	38,607,5404	AA,AG,GG		0.0751,16.4881,5.6456	,,,,,,,	2603/4575,2562/4534,2554/4526,2713/4685,2544/4516,2576/4548,2580/4552,2576/4548	144996263	683,11415	2053	3996	6049	SO:0001819	synonymous_variant	5339			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.8137C>T	8.37:g.144996263G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144996263	G	A	144996263	2	1	64	1	0	0	0	0	0	0	0	1	12052	962	34	4		4	PLEC	8	144996263	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10	3139565	144996263	1367759	31	6229											
GLIS3	169792	mdanderson.org	37	chr9	4118111	4118111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagggggtggggggcctGggggcggcggcagaggaggg	5	3	28	5	2	0	1	0	0	0	1	0	2	0	2	1	12	0	2	1	12	1	1	rs6415788	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr9:4118111G>T	ENST00000324333.10	-	3	1095	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	GLIS3_ENST00000381971.3_Missense_Mutation_p.P456Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	301	Pro-rich.		P -> Q (in dbSNP:rs6415788). {ECO:0000269|PubMed:15489334}.		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)		tggggggcctgggggcggcgg	0.731													T|||	3386	0.676118	0.6006	0.7622	5008	,	,		9673	0.874		0.6302	False		,,,				2504	0.5603					.											0								T	GLN/PRO,GLN/PRO	2499,1143		894,711,216	8	11	10		1367,902	5.4	1	9	dbSNP_116	10	4958,2542		1716,1526,508	yes	missense,missense	GLIS3	NM_001042413.1,NM_152629.3	76,76	2610,2237,724	TT,TG,GG		33.8933,31.3839,33.0731	benign,benign	456/931,301/776	4118111	7457,3685	1821	3750	5571	SO:0001583	missense	169792			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.902C>A	9.37:g.4118111G>T	ENSP00000325494:p.Pro301Gln		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	1503	0.6881868131868132	289	0.5873983739837398	261	0.7209944751381215	500	0.8741258741258742	453	0.5976253298153035	T	1.187	-0.636435	0.03557	0.686161	0.661067	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10192	2.92;2.9	5.37	5.37	0.77165	.	0.000000	0.47852	N	0.000210	T	0.00012	0.0000	N	0.01048	-1.04	0.42193	P	0.008264000000000049	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34576	-0.9823	9	0.02654	T	1	.	12.6151	0.56571	0.0:0.0:0.1388:0.8612	rs6415788;rs13294473;rs59237658;rs6415788	456;301	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	Q	301;456	ENSP00000325494:P301Q;ENSP00000371398:P456Q	ENSP00000325494:P301Q	P	-	2	0	GLIS3	4108111	1.000000	0.71417	0.971000	0.41717	0.160000	0.22226	4.123000	0.57917	0.872000	0.35775	-0.256000	0.11100	CCA		0.731	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		T	4118111	G	T	4118111	3	4	64	1	0	0	0	0	1	0	0	0	6447	1348	47	5	1457	5	GLIS3	9	4118111	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		4118111	137095320	32	6230											
LAMC3	10319	mdanderson.org	37	chr9	133884820	133884820	+	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	gccgcgggcgcgggggctcaTtgccagcgctgcgacgccgc	3	4	18	16	8	1	0	1	0	0	0	1	1	1	0	3	3	3	2	3	3	0	1	rs3739512	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr9:133884820T>G	ENST00000361069.4	+	1	352	c.219T>G	c.(217-219)caT>caG	p.H73Q	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	73	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)		cgggggcTCATTGCCAGCGCT	0.731													G|||	3285	0.65595	0.8011	0.5504	5008	,	,		9081	0.8611		0.4533	False		,,,				2504	0.5317					.											0								G	GLN/HIS	2801,873		1125,551,161	6	5	6		219	3	0.6	9	dbSNP_107	6	3292,3800		842,1608,1096	no	missense	LAMC3	NM_006059.3	24	1967,2159,1257	GG,GT,TT		46.4185,23.7616,43.4052	benign	73/1576	133884820	6093,4673	1837	3546	5383	SO:0001583	missense	10319			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.219T>G	9.37:g.133884820T>G	ENSP00000354360:p.His73Gln		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	1392	0.6373626373626373	369	0.75	198	0.5469613259668509	486	0.8496503496503497	339	0.4472295514511873	G	4.105	0.017662	0.07959	0.762384	0.464185	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.73681	-0.77	3.94	3.0	0.34707	Laminin, N-terminal (3);	0.518974	0.20363	N	0.093816	T	0.00012	0.0000	N	0.00224	-1.81	0.49798	P	1.7699999999998273E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	9	0.18710	T	0.47	.	8.2046	0.31446	0.0:0.327:0.5045:0.1685	rs3739512	73	Q9Y6N6	LAMC3_HUMAN	Q	73	ENSP00000354360:H73Q	ENSP00000325873:H73Q	H	+	3	2	LAMC3	132874641	1.000000	0.71417	0.637000	0.29366	0.294000	0.27393	1.591000	0.36665	0.126000	0.18424	-0.648000	0.03929	CAT		0.731	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		G	133884820	T	G	133884820	3	3	64	1	0	0	0	0	1	0	0	0	8616	1490	52	5	221	5	LAMC3	9	133884820	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	129766709	133884820	7328611	33	6231											
PTEN	5728	hgsc.bcm.edu	37	chr10	89720712	89720712	+	Frame_Shift_Del	DEL	A	A	-																															aggaccagaggaaacctcagAaaaagtagaaaatggaagtc																										TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr10:89720712delA	ENST00000371953.3	+	8	2220	c.863delA	c.(862-864)gaafs	p.E288fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	288	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.E288fs*3(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.S287fs*8(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.E288fs*9(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACCTCAGAAAAAGTAGAA	0.313		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(17)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|endometrium(7)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|large_intestine(1)|soft_tissue(1)											57	60	59					10																	89720712		2202	4296	6498	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.863delA	10.37:g.89720712delA	ENSP00000361021:p.Glu288fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.313	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720712	A	-	89720712	7	5	64	1	0	1	0	1	0	0	0	0	12738	246	9	0	893	0	PTEN	10	89720712	Frame_Shift_Del	DEL	A	TCGA-KO-8415-01A-11D-2310-10		89720712	45814035	34	6232	171	2									
PTEN	5728	bcgsc.ca	37	chr10	89720713	89720713	+	Frame_Shift_Del	DEL	A	A	-																															ggaccagaggaaacctcagaAaaagtagaaaatggaagtct																										TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr10:89720713delA	ENST00000371953.3	+	8	2221	c.864delA	c.(862-864)gaafs	p.E288fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	288	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.E288fs*8(1)|p.S287fs*8(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.E288fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCTCAGAAAAAGTAGAAA	0.308		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(13)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											57	61	60					10																	89720713		2202	4296	6498	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.864delA	10.37:g.89720713delA	ENSP00000361021:p.Glu288fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.308	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720713	A	-	89720713	7	5	64	1	0	1	0	1	0	0	0	0	12738	11	1	0	894	0	PTEN	10	89720713	Frame_Shift_Del	DEL	A	TCGA-KO-8415-01A-11D-2310-10	1	89720713	45814034	35	6233	171	2									
MUC6	4588	mdanderson.org	37	chr11	1017068	1017068	+	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	agggatgtagaagttttggcCgtgctaaatgagcttgggga	10	11	16	4	1	0	2	0	1	0	1	0	4	0	4	1	4	2	4	1	4	4	5	rs78992004		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:1017068C>T	ENST00000421673.2	-	31	5783	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	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)		AAGTTTTGGCCGTGCTAAATG	0.552																																						.											0																																										SO:0001819	synonymous_variant	4588			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.5733G>A	11.37:g.1017068C>T			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		T	1017068	C	T	1017068	2	4	64	1	0	0	0	0	0	0	0	1	9980	639	23	1		1	MUC6	11	1017068	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10		1017068	133989448	36	6234			2	58		3	3	878	N	T_C_A	2.497871e-06
MUC6	4588	mdanderson.org	37	chr11	1017744	1017744	+	Missense_Mutation	SNP	T	T	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	atgtagaggttttggctgtgTttaatgagctcagggcttgg	7	15	15	4	0	1	2	1	1	0	1	1	2	1	2	0	4	1	6	0	4	2	6	rs200243990		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:1017744T>C	ENST00000421673.2	-	31	5107	c.5057A>G	c.(5056-5058)aAc>aGc	p.N1686S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1686	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)		TTTGGCTGTGTTTAATGAGCT	0.562																																						.											0													863	836	845					11																	1017744		2200	4296	6496	SO:0001583	missense	4588			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.5057A>G	11.37:g.1017744T>C	ENSP00000406861:p.Asn1686Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.750323	0.00669	.	.	ENSG00000184956	ENST00000421673	T	0.14640	2.49	1.87	-2.04	0.07343	.	.	.	.	.	T	0.02012	0.0063	N	0.00152	-1.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38134	-0.9675	9	0.02654	T	1	.	6.3147	0.21184	0.0:0.2622:0.5902:0.1476	.	1686	Q6W4X9	MUC6_HUMAN	S	1686	ENSP00000406861:N1686S	ENSP00000406861:N1686S	N	-	2	0	MUC6	1007744	0.016000	0.18221	0.000000	0.03702	0.019000	0.09904	-0.366000	0.07563	-1.043000	0.03258	-0.886000	0.02939	AAC		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017744	T	C	1017744	3	2	64	1	0	0	0	0	1	0	0	0	9980	1725	60	2	2274	2	MUC6	11	1017744	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	676	1017744	133988772	37	6235			2	58		3	3	878	N	T_C_A	2.497871e-06
MUC6	4588	mdanderson.org	37	chr11	1017945	1017945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccaaagaggtggagAaaggtggaacgtgagtggga	14	5	18	4	1	1	3	1	1	0	2	1	7	1	5	1	5	1	0	1	5	3	0			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:1017945A>G	ENST00000421673.2	-	31	4906	c.4856T>C	c.(4855-4857)tTc>tCc	p.F1619S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1619	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)		AGAGGTGGAGAAAGGTGGAAC	0.542																																						.											0																																										SO:0001583	missense	4588			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.4856T>C	11.37:g.1017945A>G	ENSP00000406861:p.Phe1619Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.375208	0.01214	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	2.39	-1.65	0.08291	.	.	.	.	.	T	0.14227	0.0344	L	0.41710	1.295	0.09310	N	1	B	0.29341	0.242	B	0.35931	0.214	T	0.39860	-0.9593	9	0.06625	T	0.88	.	6.4604	0.21954	0.6729:0.0:0.3271:0.0	.	1619	Q6W4X9	MUC6_HUMAN	S	1619	ENSP00000406861:F1619S	ENSP00000406861:F1619S	F	-	2	0	MUC6	1007945	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.579000	0.05834	-0.502000	0.06596	-0.917000	0.02746	TTC		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1017945	A	G	1017945	3	3	64	1	0	0	0	0	1	0	0	0	9980	246	9	4	2475	4	MUC6	11	1017945	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	201	1017945	133988571	38	6236			2	58		3	3	878	N	T_C_A	2.497871e-06
MUC2	4583	mdanderson.org	37	chr11	1093311	1093311	+	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-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:1093311C>A	ENST00000441003.2	+	30	5157	c.5130C>A	c.(5128-5130)acC>acA	p.T1710T	MUC2_ENST00000359061.5_Silent_p.T1677T|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)	tgaccccaaccccaacaccca	0.637																																						.											0													143	189	173					11																	1093311		1906	3557	5463	SO:0001819	synonymous_variant	4583			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.5130C>A	11.37:g.1093311C>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093311	C	A	1093311	2	1	64	1	0	0	0	0	0	0	0	1	9975	610	22	5		5	MUC2	11	1093311	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	75366	1093311	133913205	39	6237											
ZNF215	7762	bcgsc.ca	37	chr11	6977554	6977554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcagtaaaagtgaagAcagtaataatccaacactcc	16	8	7	10	0	1	2	1	1	0	1	3	2	3	2	3	1	1	2	3	1	6	4			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:6977554A>G	ENST00000278319.5	+	7	1934	c.1346A>G	c.(1345-1347)gAc>gGc	p.D449G	ZNF215_ENST00000414517.2_Missense_Mutation_p.D449G|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	449					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)		AAAAGTGAAGACAGTAATAAT	0.393																																						.											0													88	89	89					11																	6977554		2201	4296	6497	SO:0001583	missense	7762			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.1346A>G	11.37:g.6977554A>G	ENSP00000278319:p.Asp449Gly		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	0.179	-1.063752	0.01934	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.06142	3.34;3.34	4.75	3.6	0.41247	.	0.322331	0.22564	N	0.058429	T	0.05181	0.0138	N	0.20881	0.62	0.46241	D	0.99894	P	0.46395	0.877	B	0.40636	0.335	T	0.42699	-0.9436	10	0.87932	D	0	-4.2538	9.1926	0.37209	0.8374:0.0:0.0:0.1626	.	449	Q9UL58	ZN215_HUMAN	G	449	ENSP00000278319:D449G;ENSP00000393202:D449G	ENSP00000278319:D449G	D	+	2	0	ZNF215	6934130	0.000000	0.05858	0.041000	0.18516	0.009000	0.06853	-1.036000	0.03560	0.922000	0.37019	0.477000	0.44152	GAC		0.393	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			G	6977554	A	G	6977554	3	3	64	1	0	0	0	0	1	0	0	0	17768	275	10	2	1364	2	ZNF215	11	6977554	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	5884243	6977554	128028962	40	6238											
OR4X1	390113	hgsc.bcm.edu	37	chr11	48285986	48285986	+	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	tggcctgcgcagacaccttcTtcattagcctgctgatcatc	7	12	8	14	1	3	2	2	1	1	1	4	2	3	2	3	1	3	2	3	1	1	3	rs76457745		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:48285986T>A	ENST00000320048.1	+	1	574	c.574T>A	c.(574-576)Ttc>Atc	p.F192I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AGACACCTTCTTCATTAGCCT	0.537																																						.											0													110	85	94					11																	48285986		2201	4298	6499	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.574T>A	11.37:g.48285986T>A	ENSP00000321506:p.Phe192Ile		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	4.614	0.114104	0.08831	.	.	ENSG00000176567	ENST00000320048	T	0.00030	8.9	4.4	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01668	-0.77	0.22745	N	0.998789	B	0.25235	0.121	B	0.24394	0.053	T	0.00485	-1.1711	9	0.17369	T	0.5	.	3.9248	0.09259	0.1875:0.6133:0.0:0.1992	.	192	Q8NH49	OR4X1_HUMAN	I	192	ENSP00000321506:F192I	ENSP00000321506:F192I	F	+	1	0	OR4X1	48242562	0.000000	0.05858	0.999000	0.59377	0.059000	0.15707	-2.231000	0.01206	1.210000	0.43336	-0.318000	0.08688	TTC		0.537	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		A	48285986	T	A	48285986	3	1	64	1	0	0	0	0	1	0	0	0	11084	1609	56	5	576	5	OR4X1	11	48285986	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	41308432	48285986	86720530	41	6239											
CDC42BPG	55561	mdanderson.org	37	chr11	64601933	64601933	+	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	agctgggcctcctgcacctgTgtcagccgctcctgcaggcc	4	8	12	17	1	1	0	1	0	0	0	3	0	3	0	6	2	4	4	6	2	0	0	rs7933683	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr11:64601933T>C	ENST00000342711.5	-	19	2291	c.2292A>G	c.(2290-2292)acA>acG	p.T764T	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCTGCACCTGTGTCAGCCGCT	0.706													C|||	1376	0.27476	0.0424	0.2147	5008	,	,		15170	0.4921		0.2575	False		,,,				2504	0.4254					.											0								C		284,3850		12,260,1795	6	7	6		2292	-6.1	0.8	11	dbSNP_116	6	1681,6531		171,1339,2596	no	coding-synonymous	CDC42BPG	NM_017525.2		183,1599,4391	CC,CT,TT		20.47,6.8699,15.9161		764/1552	64601933	1965,10381	2067	4106	6173	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2292A>G	11.37:g.64601933T>C				Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																				0.706	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		C	64601933	T	C	64601933	2	2	64	1	0	0	0	0	0	0	0	1	3074	1683	59	2		2	CDC42BPG	11	64601933	Silent	SNP	T	TCGA-KO-8415-01A-11D-2310-10	16315947	64601933	70404583	42	6240											
SLC2A3	6515	mdanderson.org	37	chr12	8074168	8074168	+	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	gggactttgaagaaggtaaaAgccaagaaggtaatgaggaa	18	6	14	3	0	0	4	0	2	0	2	0	6	0	6	1	4	1	2	1	4	8	3			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:8074168A>G	ENST00000075120.7	-	10	1572	c.1332T>C	c.(1330-1332)gcT>gcC	p.A444A	SLC2A3_ENST00000543435.1_5'Flank	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	444					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)		AGAAGGTAAAAGCCAAGAAGG	0.448																																					Colon(96;424 1461 14416 20933 23688)	.											0													79	75	77					12																	8074168		2203	4300	6503	SO:0001819	synonymous_variant	6515			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.1332T>C	12.37:g.8074168A>G			B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																				0.448	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		G	8074168	A	G	8074168	2	3	64	1	0	0	0	0	0	0	0	1	14545	59	3	2		2	SLC2A3	12	8074168	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10		8074168	125777727	43	6241											
TAS2R19	259294	mdanderson.org	37	chr12	11174327	11174327	+	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	ctgttttagcttcctacttcCcataatcaggatgaatgagt	10	15	7	9	0	1	2	1	2	0	0	3	3	3	3	2	1	2	2	2	1	4	6	rs72475481	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:11174327C>T	ENST00000390673.2	-	1	892	c.844G>A	c.(844-846)Gga>Aga	p.G282R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	282					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						TTCCTACTTCCCATAATCAGG	0.428																																						.											0													120	113	115					12																	11174327		2203	4300	6503	SO:0001583	missense	259294			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.844G>A	12.37:g.11174327C>T	ENSP00000375091:p.Gly282Arg		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	CCDS8640.1	966	0.4423076923076923	167	0.3394308943089431	168	0.46408839779005523	270	0.47202797202797203	361	0.4762532981530343	C	11.62	1.692440	0.30052	.	.	ENSG00000212124	ENST00000390673	T	0.32988	1.43	2.95	2.95	0.34219	.	0.303148	0.25189	U	0.032478	T	0.00012	0.0000	M	0.64676	1.99	0.09310	N	1	P	0.46912	0.886	P	0.46585	0.521	T	0.51521	-0.8695	10	0.52906	T	0.07	.	7.4146	0.27036	0.2594:0.7406:0.0:0.0	.	282	P59542	T2R19_HUMAN	R	282	ENSP00000375091:G282R	ENSP00000375091:G282R	G	-	1	0	TAS2R19	11065594	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.166000	0.09954	1.662000	0.50781	0.405000	0.27470	GGA		0.428	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		T	11174327	C	T	11174327	3	4	64	1	0	0	0	0	1	0	0	0	15567	632	22	3	58	3	TAS2R19	12	11174327	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	3100159	11174327	122677568	44	6242											
TAS2R31	259290	mdanderson.org	37	chr12	11183797	11183797	+	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	accgccagagcagtgagaatCtggtcagcaaaagagatctt	14	7	11	9	1	3	3	1	1	2	3	3	5	3	3	2	1	2	2	2	1	3	1			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:11183797C>T	ENST00000390675.2	-	1	209	c.138G>A	c.(136-138)caG>caA	p.Q46Q	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	46					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)|lung(6)	7						CAGTGAGAATCTGGTCAGCAA	0.378																																						.											0																																										SO:0001819	synonymous_variant	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.138G>A	12.37:g.11183797C>T			P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	CCDS53747.1																																																																																				0.378	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		T	11183797	C	T	11183797	2	4	64	1	0	0	0	0	0	0	0	1	15571	912	32	4		4	TAS2R31	12	11183797	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	9470	11183797	122668098	45	6243											
GRIN2B	2904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	13828724	13828724	+	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	agaagaattatcaccagtttCgggtgcatctggtagccatc	11	11	10	9	1	2	2	1	0	1	2	4	2	2	2	2	2	2	3	2	2	4	3	rs201952040		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:13828724C>T	ENST00000609686.1	-	4	1289	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	360					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)	TCACCAGTTTCGGGTGCATCT	0.373																																						.											0													127	124	125					12																	13828724		2203	4300	6503	SO:0001819	synonymous_variant	2904				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.1080G>A	12.37:g.13828724C>T			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.373	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13828724	C	T	13828724	2	4	64	1	0	0	0	0	0	0	0	1	6780	871	31	1		1	GRIN2B	12	13828724	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	2644927	13828724	120023171	46	6244											
IPO8	10526	bcgsc.ca	37	chr12	30787155	30787155	+	Missense_Mutation	SNP	T	T	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	ctcctcctcatcttcacctcTtccattatttgactgcattg	6	17	3	15	0	4	1	2	1	2	0	7	1	7	1	4	0	1	1	4	0	1	5			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:30787155T>C	ENST00000256079.4	-	23	3099	c.2761A>G	c.(2761-2763)Aga>Gga	p.R921G	IPO8_ENST00000544829.1_Missense_Mutation_p.R716G	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	921					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTTCACCTCTTCCATTATTT	0.408																																						.											0													251	199	217					12																	30787155		2203	4300	6503	SO:0001583	missense	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2761A>G	12.37:g.30787155T>C	ENSP00000256079:p.Arg921Gly		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	7.327	0.618242	0.14129	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.45276	1.91;0.9	5.1	-4.0	0.04057	Armadillo-type fold (1);	0.499991	0.22314	N	0.061686	T	0.13329	0.0323	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25813	-1.0121	10	0.25106	T	0.35	-13.0789	9.4985	0.39004	0.0:0.1284:0.7165:0.1551	.	716;397;921	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	G	921;397;716	ENSP00000256079:R921G;ENSP00000444520:R716G	ENSP00000256079:R921G	R	-	1	2	IPO8	30678422	0.015000	0.18098	0.004000	0.12327	0.330000	0.28571	1.089000	0.30890	-0.435000	0.07264	0.533000	0.62120	AGA		0.408	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		C	30787155	T	C	30787155	3	2	64	1	0	0	0	0	1	0	0	0	7798	1617	56	2	364	2	IPO8	12	30787155	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	16958431	30787155	103064740	47	6245											
KRT5	3852	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	52913573	52913573	+	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	gttgagggtcttgatctgctCgcgctcctcggtcctcaccc	3	12	11	15	3	3	2	1	2	2	0	7	2	5	2	3	2	1	3	3	2	0	2	rs59115483		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:52913573C>T	ENST00000252242.4	-	1	898	c.508G>A	c.(508-510)Gag>Aag	p.E170K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	170	Coil 1A.|Rod.		E -> K (in K-EBS; dbSNP:rs59115483). {ECO:0000269|PubMed:11973334}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGATCTGCTCGCGCTCCTCG	0.498																																						.											0			GRCh37	CM021625	KRT5	M	rs59115483						182	175	177					12																	52913573		2203	4300	6503	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.508G>A	12.37:g.52913573C>T	ENSP00000252242:p.Glu170Lys		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522137	0.85600	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275	D;T;T	0.91631	-2.88;-1.12;-1.12	5.66	5.66	0.87406	Filament (1);	0.000000	0.64402	D	0.000019	D	0.96716	0.8928	M	0.89904	3.07	0.58432	A	0.999999	D	0.71674	0.998	D	0.64321	0.924	D	0.97086	0.9787	9	0.87932	D	0	.	19.7439	0.96243	0.0:1.0:0.0:0.0	rs59115483	170	P13647	K2C5_HUMAN	K	170;135;60;135	ENSP00000252242:E170K;ENSP00000447209:E60K;ENSP00000448041:E135K	ENSP00000252242:E170K	E	-	1	0	KRT5	51199840	1.000000	0.71417	0.963000	0.40424	0.292000	0.27327	7.818000	0.86416	2.669000	0.90835	0.655000	0.94253	GAG		0.498	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52913573	C	T	52913573	3	4	64	1	0	0	0	0	1	0	0	0	8479	893	31	1	1300	1	KRT5	12	52913573	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	22126418	52913573	80938322	48	6246											
KRT76	51350	broad.mit.edu	37	chr12	53169330	53169330	+	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	cctgagcctgtggtctgctgCtggagcagttcccacttggt	4	12	13	12	0	1	1	0	1	1	0	2	2	2	2	3	3	4	4	3	3	0	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:53169330C>T	ENST00000332411.2	-	2	710	c.657G>A	c.(655-657)caG>caA	p.Q219Q		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	219	Linker 1.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGTCTGCTGCTGGAGCAGTT	0.557																																						.											0													111	113	112					12																	53169330		2203	4300	6503	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.657G>A	12.37:g.53169330C>T			B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	CCDS8838.1																																																																																				0.557	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		T	53169330	C	T	53169330	2	4	64	1	0	0	0	0	0	0	0	1	8489	796	28	4		4	KRT76	12	53169330	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	255757	53169330	80682565	49	6247											
DGKA	1606	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr12	56335069	56335069	+	Missense_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	ctaacacccacccacttctcGtctttgtcaatcctaagagt	10	12	4	15	1	3	1	1	0	2	1	5	1	4	1	3	0	1	0	3	0	3	4			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:56335069G>A	ENST00000331886.5	+	14	1589	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	DGKA_ENST00000551156.1_Missense_Mutation_p.V379I|DGKA_ENST00000394147.1_Missense_Mutation_p.V379I|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	379	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.			V -> L (in Ref. 2; AAC34802). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.V379I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACTTCTCGTCTTTGTCAA	0.493																																						.											1	Substitution - Missense(1)	pancreas(1)											115	114	114					12																	56335069		2203	4300	6503	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1135G>A	12.37:g.56335069G>A	ENSP00000328405:p.Val379Ile		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648661	0.96714	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156;ENST00000552903	T;T;T;T;T	0.50548	0.79;0.74;0.79;0.79;0.74	5.85	5.85	0.93711	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.995	P;P	0.59487	0.778;0.858	T	0.68379	-0.5424	10	0.66056	D	0.02	.	19.3175	0.94220	0.0:0.0:1.0:0.0	.	298;379	G3V4E1;P23743	.;DGKA_HUMAN	I	379;298;379;379;14	ENSP00000328405:V379I;ENSP00000451743:V298I;ENSP00000377703:V379I;ENSP00000450359:V379I;ENSP00000451518:V14I	ENSP00000328405:V379I	V	+	1	0	DGKA	54621336	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.241000	0.95402	2.941000	0.99782	0.655000	0.94253	GTC		0.493	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			A	56335069	G	A	56335069	3	1	64	1	0	0	0	0	1	0	0	0	4465	1145	40	1	1185	1	DGKA	12	56335069	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	3165739	56335069	77516826	50	6248											
OAS3	4940	mdanderson.org	37	chr12	113376452	113376452	+	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	ctgggcgccctggccgctgcCctgagggagcgcgggggccg	2	4	20	15	5	0	1	0	1	0	0	0	2	0	2	4	5	2	1	4	5	0	0	rs1859329	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr12:113376452C>T	ENST00000228928.7	+	1	296	c.117C>T	c.(115-117)gcC>gcT	p.A39A	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.A39A|OAS3_ENST00000548514.1_Silent_p.A39A|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	39	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						TGGCCGCTGCCCTGAGGGAGC	0.701													C|||	3937	0.786142	0.9887	0.7738	5008	,	,		12918	0.748		0.6352	False		,,,				2504	0.7157					.											0								C		3337,247		1556,225,11	7	8	8		117	0.8	0	12	dbSNP_92	8	5199,2777		1738,1723,527	no	coding-synonymous	OAS3	NM_006187.2		3294,1948,538	TT,TC,CC		34.817,6.8917,26.1592		39/1088	113376452	8536,3024	1792	3988	5780	SO:0001819	synonymous_variant	4940			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.117C>T	12.37:g.113376452C>T			Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																				0.701	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			T	113376452	C	T	113376452	2	4	64	1	0	0	0	0	0	0	0	1	10801	610	22	3		3	OAS3	12	113376452	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	57041383	113376452	20475443	51	6249											
ING1	3621	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr13	111367954	111367954	+	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	gggtggacgagttgatttgaAcgtcttcgggtcgctcggcc	5	11	16	9	5	1	2	0	2	1	0	4	4	1	3	1	4	1	2	1	4	1	3			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr13:111367954A>T	ENST00000375774.3	+	1	626	c.164A>T	c.(163-165)aAc>aTc	p.N55I	ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	55					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)			GTTGATTTGAACGTCTTCGGG	0.602																																						.											0													109	104	105					13																	111367954		2203	4300	6503	SO:0001583	missense	3621				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	ENST00000375774.3:c.164A>T	13.37:g.111367954A>T	ENSP00000364929:p.Asn55Ile		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	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639445	0.47153	.	.	ENSG00000153487	ENST00000375774	T	0.38077	1.16	4.32	4.32	0.51571	.	0.225560	0.42294	D	0.000738	T	0.29976	0.0750	N	0.19112	0.55	0.27004	N	0.964843	D	0.58268	0.982	P	0.49140	0.601	T	0.11743	-1.0575	10	0.87932	D	0	-12.9249	9.7925	0.40715	1.0:0.0:0.0:0.0	.	55	Q9UK53	ING1_HUMAN	I	55	ENSP00000364929:N55I	ENSP00000364929:N55I	N	+	2	0	ING1	110165955	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.220000	0.58567	1.809000	0.52856	0.459000	0.35465	AAC		0.602	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111367954	A	T	111367954	3	4	64	1	0	0	0	0	1	0	0	0	7735	43	2	5	314	5	ING1	13	111367954	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10		111367954	3801924	52	6250											
OR4M1	441670	mdanderson.org	37	chr14	20248760	20248760	+	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	gtggagaggaagataatttcCtttggtggatgcattgcaca	11	12	13	5	0	0	2	0	0	0	2	1	5	1	4	1	4	2	2	1	4	2	4			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr14:20248760C>A	ENST00000315957.4	+	1	360	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATAATTTCCTTTGGTGGAT	0.448																																						.											1	Substitution - coding silent(1)	large_intestine(1)											252	273	266					14																	20248760		2203	4300	6503	SO:0001819	synonymous_variant	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.279C>A	14.37:g.20248760C>A			B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	CCDS32021.1																																																																																				0.448	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			A	20248760	C	A	20248760	2	1	64	1	0	0	0	0	0	0	0	1	11075	668	24	5		5	OR4M1	14	20248760	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10		20248760	87100780	53	6251											
EVL	51466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr14	100595075	100595075	+	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	agctggggccaagctgagaaGagtccaacgggtaagagctc	12	5	15	9	1	0	3	0	1	0	3	2	4	1	3	2	3	4	4	2	3	4	1			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr14:100595075G>T	ENST00000402714.2	+	6	1305	c.701G>T	c.(700-702)aGa>aTa	p.R234I	EVL_ENST00000544450.2_Missense_Mutation_p.R240I|EVL_ENST00000392920.3_Missense_Mutation_p.R236I			Q9UI08	EVL_HUMAN	Enah/Vasp-like	234	EVH2 block A.|EVH2.				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)				AAGCTGAGAAGAGTCCAACGG	0.657																																						.											0													27	30	29					14																	100595075		2196	4293	6489	SO:0001583	missense	51466			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.701G>T	14.37:g.100595075G>T	ENSP00000384720:p.Arg234Ile		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.154557	0.78114	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000557384;ENST00000554695	T;T;T;T	0.72167	-0.62;-0.63;-0.63;0.64	5.2	4.27	0.50696	.	0.064953	0.56097	D	0.000025	T	0.78616	0.4311	M	0.76574	2.34	0.58432	D	0.999999	B;D;D	0.71674	0.006;0.998;0.996	B;P;P	0.59703	0.005;0.862;0.731	T	0.80513	-0.1349	10	0.87932	D	0	-21.3881	8.6814	0.34212	0.0758:0.0:0.7728:0.1514	.	240;236;234	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	I	234;240;236;199;130;51	ENSP00000384720:R234I;ENSP00000437904:R240I;ENSP00000376652:R236I;ENSP00000450979:R130I	ENSP00000376652:R236I	R	+	2	0	EVL	99664828	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	4.238000	0.58688	2.422000	0.82143	0.655000	0.94253	AGA		0.657	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			T	100595075	G	T	100595075	3	4	64	1	0	0	0	0	1	0	0	0	5291	942	33	5	729	5	EVL	14	100595075	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	80346315	100595075	6754465	54	6252											
KIF26A	26153	mdanderson.org	37	chr14	104643721	104643721	+	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	agccctggcggccctgtggcCggtcccagagcagccccacg	5	4	14	18	3	0	1	0	0	0	1	1	1	1	1	6	4	3	1	6	4	0	0	rs2487301	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr14:104643721C>A	ENST00000423312.2	+	12	4596	c.4596C>A	c.(4594-4596)gcC>gcA	p.A1532A	KIF26A_ENST00000315264.7_Silent_p.A1393A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1532					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)		GCCCTGTGGCCGGTCCCAGAG	0.731													C|||	2298	0.458866	0.7383	0.2911	5008	,	,		13223	0.372		0.3419	False		,,,				2504	0.41					.											0								C		2061,1315		665,731,292	4	6	5		4596	-7.6	0	14	dbSNP_100	5	2447,5087		528,1391,1848	no	coding-synonymous	KIF26A	NM_015656.1		1193,2122,2140	AA,AC,CC		32.4794,38.9514,41.3199		1532/1883	104643721	4508,6402	1688	3767	5455	SO:0001819	synonymous_variant	26153			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.4596C>A	14.37:g.104643721C>A			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.731	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			A	104643721	C	A	104643721	2	1	64	1	0	0	0	0	0	0	0	1	8294	639	23	5		5	KIF26A	14	104643721	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	4048646	104643721	2705819	55	6253											
C15orf43	145645	mdanderson.org	37	chr15	45253735	45253735	+	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	ccacagaaataagaagaaaaAttggtagttttatttgggaa	18	11	9	3	0	0	3	0	0	0	3	0	4	0	4	1	2	0	2	1	2	8	6	rs77033860	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr15:45253735A>T	ENST00000340827.3	+	4	318	c.301A>T	c.(301-303)Att>Ttt	p.I101F	RNU6-1332P_ENST00000516666.1_RNA	NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	101										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAGAAGAAAAATTGGTAGTTT	0.289																																						.											0													63	60	61					15																	45253735		2198	4293	6491	SO:0001583	missense	145645			BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.301A>T	15.37:g.45253735A>T	ENSP00000340644:p.Ile101Phe			Missense_Mutation	SNP	ENST00000340827.3	37	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274786	0.40194	.	.	ENSG00000167014	ENST00000340827	T	0.49139	0.79	4.4	3.26	0.37387	.	0.243069	0.31909	N	0.006868	T	0.35008	0.0917	L	0.29908	0.895	0.37417	D	0.913478	P	0.35383	0.498	B	0.37943	0.261	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.141	0.31082	0.7769:0.2231:0.0:0.0	.	101	Q8NHR7	CO043_HUMAN	F	101	ENSP00000340644:I101F	ENSP00000340644:I101F	I	+	1	0	C15orf43	43041027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.732000	0.26072	0.650000	0.30769	0.448000	0.29417	ATT		0.289	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		T	45253735	A	T	45253735	3	4	64	1	0	0	0	0	1	0	0	0	1797	101	4	5	315	5	C15orf43	15	45253735	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10		45253735	57277657	56	6254											
CPPED1	55313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	12798816	12798816	+	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	gggtgttgccaatgtcatggTtgccgctgacaaggaccagt	8	10	14	9	1	1	1	1	1	0	0	1	2	1	2	3	3	2	3	3	3	2	2	rs3748982		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr16:12798816T>A	ENST00000381774.4	-	3	620	c.380A>T	c.(379-381)aAc>aTc	p.N127I	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	127	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						AATGTCATGGTTGCCGCTGAC	0.627																																						.											0													66	71	69					16																	12798816		2093	4219	6312	SO:0001583	missense	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.380A>T	16.37:g.12798816T>A	ENSP00000371193:p.Asn127Ile		B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290732	0.59976	.	.	ENSG00000103381	ENST00000381774	D	0.99304	-5.72	5.7	5.7	0.88788	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98268	1.0502	10	0.87932	D	0	-38.6905	13.9242	0.63952	0.0:0.0:0.0:1.0	.	127	Q9BRF8	CPPED_HUMAN	I	127	ENSP00000371193:N127I	ENSP00000371193:N127I	N	-	2	0	CPPED1	12706317	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.740000	0.84986	2.169000	0.68431	0.528000	0.53228	AAC		0.627	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		A	12798816	T	A	12798816	3	1	64	1	0	0	0	0	1	0	0	0	3822	1725	60	5	572	5	CPPED1	16	12798816	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10		12798816	77555937	57	6255											
CCDC135	84229	broad.mit.edu;mdanderson.org	37	chr16	57760055	57760055	+	Missense_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	cagagcgcgtgtttctggtcGcggaggagcgcatccagctg	6	8	16	11	5	1	1	0	0	1	1	3	3	2	3	1	3	3	3	1	3	0	1	rs542227091	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr16:57760055G>A	ENST00000360716.3	+	14	2055	c.1834G>A	c.(1834-1836)Gcg>Acg	p.A612T	CCDC135_ENST00000394337.4_Missense_Mutation_p.A612T|CCDC135_ENST00000336825.8_Missense_Mutation_p.A547T			Q8IY82	CC135_HUMAN		612					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.A612T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GTTTCTGGTCGCGGAGGAGCG	0.632													g|||	4	0.000798722	8e-04	0	5008	,	,		16364	0.003		0	False		,,,				2504	0					.											1	Substitution - Missense(1)	lung(1)											56	48	51					16																	57760055		2198	4298	6496	SO:0001583	missense	84229																														ENST00000360716.3:c.1834G>A	16.37:g.57760055G>A	ENSP00000353942:p.Ala612Thr		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	6.322	0.427552	0.11987	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10192	3.07;2.9;3.07	4.87	-9.73	0.00512	.	3.226540	0.00864	N	0.001941	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.016	B;B	0.09377	0.004;0.004	T	0.36163	-0.9759	10	0.15499	T	0.54	0.6512	0.4774	0.00542	0.2806:0.1555:0.3011:0.2629	.	547;612	Q8IY82-2;Q8IY82	.;CC135_HUMAN	T	612;547;612	ENSP00000377869:A612T;ENSP00000338938:A547T;ENSP00000353942:A612T	ENSP00000338938:A547T	A	+	1	0	CCDC135	56317556	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-5.390000	0.00126	-1.869000	0.01141	0.655000	0.94253	GCG		0.632	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57760055	G	A	57760055	3	1	64	1	0	0	0	0	1	0	0	0	2769	1087	38	1	1880	1	CCDC135	16	57760055	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	44961239	57760055	32594698	58	6256											
LCAT	3931	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr16	67974324	67974324	+	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	tccagggggaggtggtggttAtgcgctgctcctctttcagc	4	12	15	10	1	2	0	1	0	1	0	4	1	4	1	2	5	3	3	2	5	1	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr16:67974324A>T	ENST00000264005.5	-	6	835	c.806T>A	c.(805-807)aTa>aAa	p.I269K		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	269					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GGTGGTGGTTATGCGCTGCTC	0.582																																						.											0													139	120	126					16																	67974324		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.806T>A	16.37:g.67974324A>T	ENSP00000264005:p.Ile269Lys		Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.594408	0.46214	.	.	ENSG00000213398	ENST00000264005	D	0.95377	-3.69	5.89	3.57	0.40892	.	0.119263	0.56097	U	0.000039	D	0.93497	0.7925	M	0.81682	2.555	0.47737	D	0.999503	B	0.20164	0.042	B	0.18871	0.023	D	0.90033	0.4136	10	0.52906	T	0.07	-18.912	4.8882	0.13713	0.6798:0.1586:0.1616:0.0	.	269	P04180	LCAT_HUMAN	K	269	ENSP00000264005:I269K	ENSP00000264005:I269K	I	-	2	0	LCAT	66531825	1.000000	0.71417	0.622000	0.29159	0.962000	0.63368	6.155000	0.71833	1.064000	0.40671	0.459000	0.35465	ATA		0.582	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			T	67974324	A	T	67974324	3	4	64	1	0	0	0	0	1	0	0	0	8658	449	16	5	520	5	LCAT	16	67974324	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	10214269	67974324	22380429	59	6257											
NCOR1	9611	mdanderson.org	37	chr17	16068464	16068464	+	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	ggagcttcatgtttgcctccGaatgctggatcctttagaga	8	13	11	9	1	1	1	1	0	0	1	3	5	3	3	3	2	3	3	3	2	2	4	rs200311165	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr17:16068464G>A	ENST00000268712.3	-	5	704	c.447C>T	c.(445-447)ttC>ttT	p.F149F	NCOR1_ENST00000395848.1_Silent_p.F40F|NCOR1_ENST00000395851.1_Silent_p.F149F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	149	Interaction with ZBTB33 and HEXIM1.				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)		GTTTGCCTCCGAATGCTGGAT	0.378																																						.											0													107	99	102					17																	16068464		2203	4300	6503	SO:0001819	synonymous_variant	9611			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.447C>T	17.37:g.16068464G>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.378	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		A	16068464	G	A	16068464	2	1	64	1	0	0	0	0	0	0	0	1	10235	1049	37	1		1	NCOR1	17	16068464	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10		16068464	65126746	60	6258											
CCDC144NL	339184	mdanderson.org	37	chr17	20768803	20768803	+	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	atgtggtgatgaaccctttgCtcatgcagatgacaatactc	11	12	9	9	0	1	4	1	3	0	1	2	4	1	4	1	1	4	2	1	1	3	2	rs561339792|rs76135364	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr17:20768803C>T	ENST00000327925.5	-	4	710	c.591G>A	c.(589-591)gaG>gaA	p.E197E	RP11-344E13.3_ENST00000577537.1_RNA|CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	197										large_intestine(3)|lung(3)|skin(1)	7						GAACCCTTTGCTCATGCAGAT	0.348																																						.											0													82	76	78					17																	20768803		2203	4299	6502	SO:0001819	synonymous_variant	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.591G>A	17.37:g.20768803C>T				Silent	SNP	ENST00000327925.5	37	CCDS32591.1																																																																																				0.348	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		T	20768803	C	T	20768803	2	4	64	1	0	0	0	0	0	0	0	1	2779	796	28	4		4	CCDC144NL	17	20768803	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	4700339	20768803	60426407	61	6259											
CCDC144NL	339184	mdanderson.org	37	chr17	20769964	20769964	+	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	cagagccacgtcatctgctcCaccgtaccacaggcgactcc	9	6	8	18	3	2	1	1	0	1	1	4	2	4	1	5	1	3	2	5	1	1	1	rs79395366	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr17:20769964C>A	ENST00000327925.5	-	3	587	c.468G>T	c.(466-468)gtG>gtT	p.V156V	RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|CCDC144NL_ENST00000539484.1_5'UTR|RP11-344E13.3_ENST00000439794.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	156										large_intestine(3)|lung(3)|skin(1)	7						tcatctgctccaccgtaccac	0.612																																						.											0													69	45	53					17																	20769964		2137	4143	6280	SO:0001819	synonymous_variant	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.468G>T	17.37:g.20769964C>A				Silent	SNP	ENST00000327925.5	37	CCDS32591.1																																																																																				0.612	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		A	20769964	C	A	20769964	2	1	64	1	0	0	0	0	0	0	0	1	2779	581	21	5		5	CCDC144NL	17	20769964	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	1161	20769964	60425246	62	6260											
KRT34	3885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	39535652	39535652	+	Missense_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	ctccagggcgttgactgtgcGtctcagctcgatgatctccg	5	11	12	13	4	2	2	1	2	2	0	6	3	3	2	2	1	2	2	2	1	0	1			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr17:39535652G>A	ENST00000394001.1	-	5	985	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	319	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TTGACTGTGCGTCTCAGCTCG	0.582																																						.											0													136	110	119					17																	39535652		2203	4300	6503	SO:0001583	missense	3885			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.955C>T	17.37:g.39535652G>A	ENSP00000377570:p.Arg319Cys		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	13.59	2.282843	0.40394	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.9	4.9	0.64082	Filament (1);	0.000000	0.64402	D	0.000004	T	0.69405	0.3107	M	0.75085	2.285	0.50813	D	0.999899	P	0.50710	0.938	P	0.46825	0.528	T	0.76258	-0.3025	9	0.87932	D	0	.	17.4103	0.87484	0.0:0.0:1.0:0.0	.	319	O76011	KRT34_HUMAN	C	277;319	.	ENSP00000251648:R319C	R	-	1	0	KRT34	36789178	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.309000	0.59135	2.422000	0.82143	0.555000	0.69702	CGC		0.582	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		A	39535652	G	A	39535652	3	1	64	1	0	0	0	0	1	0	0	0	8471	1145	40	1	367	1	KRT34	17	39535652	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	18765688	39535652	41659558	63	6261											
DSC3	1825	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr18	28604440	28604440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaatatccatctgcaGttgacgcataagcaatcaac	13	10	7	11	1	2	2	1	2	1	0	3	2	3	2	1	0	4	5	1	0	5	3			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr18:28604440G>T	ENST00000360428.4	-	6	730	c.650C>A	c.(649-651)aCt>aAt	p.T217N	DSC3_ENST00000434452.1_Missense_Mutation_p.T217N	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	217	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCATCTGCAGTTGACGCATA	0.403																																						.											0													62	65	64					18																	28604440		2203	4300	6503	SO:0001583	missense	1825			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.650C>A	18.37:g.28604440G>T	ENSP00000353608:p.Thr217Asn		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098160	0.37048	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.45668	0.89;0.89	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58878	0.2153	L	0.48935	1.535	0.31889	N	0.617423	B;D	0.76494	0.443;0.999	B;D	0.74674	0.425;0.984	T	0.62690	-0.6801	9	0.56958	D	0.05	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	217;217	Q14574;Q14574-2	DSC3_HUMAN;.	N	217	ENSP00000353608:T217N;ENSP00000392068:T217N	ENSP00000353608:T217N	T	-	2	0	DSC3	26858438	0.999000	0.42202	0.387000	0.26183	0.146000	0.21551	4.619000	0.61218	2.691000	0.91804	0.655000	0.94253	ACT		0.403	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		T	28604440	G	T	28604440	3	4	64	1	0	0	0	0	1	0	0	0	4767	1029	36	5	2115	5	DSC3	18	28604440	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		28604440	49472808	64	6262											
C19orf6	91304	mdanderson.org	37	chr19	1010406	1010406	+	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	atggaggccgggctaggcccGcctaccgcagcccccagggg	6	3	16	16	3	0	0	0	0	0	0	0	1	0	1	6	6	2	2	6	6	2	2	rs62131162	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:1010406G>A	ENST00000356663.3	-	11	1927	c.1806C>T	c.(1804-1806)ggC>ggT	p.G602G	TMEM259_ENST00000333175.5_3'UTR	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	602						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGCTAGGCCCGCCTACCGCAG	0.741													N|||	505	0.100839	0.1278	0.098	5008	,	,		11980	0.001		0.1322	False		,,,				2504	0.137					.											0									,	328,3510		20,288,1611	3	4	4		1806,	-2.6	0	19	dbSNP_129	4	874,6922		40,794,3064	no	coding-synonymous,utr-3	C19orf6	NM_001033026.1,NM_033420.3	,	60,1082,4675	AA,AG,GG		11.2109,8.5461,10.3318	,	602/621,	1010406	1202,10432	1919	3898	5817	SO:0001819	synonymous_variant	91304			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.1806C>T	19.37:g.1010406G>A			O60392|Q8NF79|Q96H30	Silent	SNP	ENST00000356663.3	37	CCDS32862.1																																																																																				0.741	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		A	1010406	G	A	1010406	2	1	64	1	0	0	0	0	0	0	0	1	1941	1074	38	1		1	C19orf6	19	1010406	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10		1010406	58118577	65	6263											
SIN3B	23309	hgsc.bcm.edu;ucsc.edu	37	chr19	16982119	16982119	+	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	gagggcagcatcgaccccacGcagtacgaggacaccctacg	11	3	12	15	4	0	0	0	0	0	0	1	4	0	1	3	2	3	4	3	2	2	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:16982119G>A	ENST00000248054.5	+	14	2523	c.2502G>A	c.(2500-2502)acG>acA	p.T834T	SIN3B_ENST00000595541.1_Silent_p.T424T|SIN3B_ENST00000379803.1_Silent_p.T866T					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCGACCCCACGCAGTACGAGG	0.627																																						.											0													115	96	103					19																	16982119		2203	4300	6503	SO:0001819	synonymous_variant	23309			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.2502G>A	19.37:g.16982119G>A				Silent	SNP	ENST00000248054.5	37																																																																																					0.627	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		A	16982119	G	A	16982119	2	1	64	1	0	0	0	0	0	0	0	1	14326	1074	38	1		1	SIN3B	19	16982119	Silent	SNP	G	TCGA-KO-8415-01A-11D-2310-10	15971713	16982119	42146864	66	6264											
MAST3	23031	broad.mit.edu;mdanderson.org	37	chr19	18245714	18245714	+	Missense_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	actggtgggccatgggcgtcGtcctctatgagtttctggtg	4	13	15	9	2	2	1	0	1	2	0	4	1	3	1	2	4	0	1	2	4	1	2			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:18245714G>A	ENST00000262811.6	+	16	1705	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	569	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						CATGGGCGTCGTCCTCTATGA	0.632																																						.											0													98	106	103					19																	18245714		2062	4217	6279	SO:0001583	missense	23031			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.1705G>A	19.37:g.18245714G>A	ENSP00000262811:p.Val569Ile		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	5.645	0.303656	0.10678	.	.	ENSG00000099308	ENST00000262811	T	0.24723	1.84	4.8	0.811	0.18739	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.270108	0.40728	N	0.001035	T	0.07188	0.0182	N	0.02334	-0.595	0.32713	N	0.511322	B	0.06786	0.001	B	0.06405	0.002	T	0.42666	-0.9438	10	0.02654	T	1	-29.6574	8.0084	0.30338	0.8171:0.0:0.1829:0.0	.	569	O60307	MAST3_HUMAN	I	569	ENSP00000262811:V569I	ENSP00000262811:V569I	V	+	1	0	MAST3	18106714	1.000000	0.71417	0.983000	0.44433	0.967000	0.64934	2.549000	0.45803	0.249000	0.21456	0.313000	0.20887	GTC		0.632	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		A	18245714	G	A	18245714	3	1	64	1	0	0	0	0	1	0	0	0	9326	1145	40	1	1767	1	MAST3	19	18245714	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10	1263595	18245714	40883269	67	6265											
HAPLN4	404037	mdanderson.org	37	chr19	19369435	19369435	+	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	gcatcaccgccgccccctgcActcccggtcccccccaggcc	4	4	8	25	3	1	0	1	0	0	0	3	0	3	0	9	2	1	2	9	2	0	0	rs2074295	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:19369435A>G	ENST00000291481.7	-	4	777	c.714T>C	c.(712-714)agT>agC	p.S238S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	238	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.S238S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CGCCCCCTGCACTCCCGGTCC	0.701													G|||	1768	0.353035	0.4675	0.3213	5008	,	,		12281	0.2589		0.2117	False		,,,				2504	0.4632					.											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						G		1881,2525	599.7+/-389.3	404,1073,726	30	29	29		714	1.8	0	19	dbSNP_96	29	1941,6655	695.8+/-404.8	217,1507,2574	no	coding-synonymous	HAPLN4	NM_023002.2		621,2580,3300	GG,GA,AA		22.5803,42.6918,29.3955		238/403	19369435	3822,9180	2203	4298	6501	SO:0001819	synonymous_variant	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.714T>C	19.37:g.19369435A>G			A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	37	CCDS12398.1																																																																																				0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		G	19369435	A	G	19369435	2	3	64	1	0	0	0	0	0	0	0	1	6957	156	6	2		2	HAPLN4	19	19369435	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10	1123721	19369435	39759548	68	6266											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278799	36278799	+	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	gagtccctttcgctccatgcCccccgacaggctcaatgcct	6	9	8	18	2	1	0	1	0	0	0	4	2	3	0	6	1	2	2	6	1	1	1			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:36278799C>T	ENST00000007510.4	+	21	3476	c.3332C>T	c.(3331-3333)cCc>cTc	p.P1111L	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P947L|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P950L|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1111					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						CGCTCCATGCCCCCCGACAGG	0.647																																						.											0													22	24	23					19																	36278799		2202	4299	6501	SO:0001583	missense	115703			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.3332C>T	19.37:g.36278799C>T	ENSP00000007510:p.Pro1111Leu		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	C	14.39	2.521279	0.44866	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.25085	2.53;1.82;2.2	4.85	4.85	0.62838	.	0.000000	0.45606	D	0.000359	T	0.17323	0.0416	N	0.14661	0.345	0.58432	D	0.999999	P;P	0.40731	0.728;0.728	B;B	0.39217	0.294;0.294	T	0.06110	-1.0845	10	0.24483	T	0.36	.	17.0835	0.86604	0.0:1.0:0.0:0.0	.	947;950	O14559-10;O14559-11	.;.	L	1111;950;947	ENSP00000007510:P1111L;ENSP00000320038:P950L;ENSP00000368227:P947L	ENSP00000007510:P1111L	P	+	2	0	ARHGAP33	40970639	0.997000	0.39634	1.000000	0.80357	0.617000	0.37484	3.755000	0.55197	2.421000	0.82119	0.462000	0.41574	CCC		0.647	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		T	36278799	C	T	36278799	3	4	64	1	0	0	0	0	1	0	0	0	882	623	22	3	3414	3	ARHGAP33	19	36278799	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10	16909364	36278799	22850184	69	6267											
FBL	2091	broad.mit.edu	37	chr19	40331124	40331124	+	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	ctttttcctccccgaccacgAccccggttgccaccagaatg	7	9	7	18	3	0	1	0	0	0	1	2	3	2	1	8	1	1	1	8	1	1	3			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:40331124A>G	ENST00000221801.3	-	3	326	c.213T>C	c.(211-213)ggT>ggC	p.G71G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	71	DMA/Gly-rich.				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)		CCCGACCACGACCCCGGTTGC	0.587																																						.											0													213	190	198					19																	40331124		2203	4300	6503	SO:0001819	synonymous_variant	2091			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.213T>C	19.37:g.40331124A>G			B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	CCDS12545.1																																																																																				0.587	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		G	40331124	A	G	40331124	2	3	64	1	0	0	0	0	0	0	0	1	5696	262	10	2		2	FBL	19	40331124	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10	4052325	40331124	18797859	70	6268											
ZNF615	284370	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	52505118	52505118	+	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	gttgtgcaagtttcttctccTcgttccaatttggagagtgc	6	16	10	9	1	2	1	0	0	2	1	5	2	3	1	2	1	2	4	2	1	2	5			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:52505118T>G	ENST00000602063.1	-	5	535	c.186A>C	c.(184-186)cgA>cgC	p.R62R	ZNF615_ENST00000597747.1_Silent_p.R62R|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000391795.3_Silent_p.R67R|ZNF615_ENST00000594083.1_Silent_p.R62R|ZNF615_ENST00000376716.5_Silent_p.R62R|ZNF615_ENST00000598071.1_Silent_p.R62R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	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)			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)		TTTCTTCTCCTCGTTCCAATT	0.463																																						.											0													183	141	155					19																	52505118		2203	4300	6503	SO:0001819	synonymous_variant	284370			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.186A>C	19.37:g.52505118T>G			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	CCDS12846.1																																																																																				0.463	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		G	52505118	T	G	52505118	2	3	64	1	0	0	0	0	0	0	0	1	18037	1538	54	5		5	ZNF615	19	52505118	Silent	SNP	T	TCGA-KO-8415-01A-11D-2310-10	12173994	52505118	6623865	71	6269											
VN1R2	317701	broad.mit.edu	37	chr19	53762250	53762250	+	Missense_Mutation	SNP	T	T	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	tgaaagtaaaagccccgacaTacattggtctctccaatatc	14	10	6	11	1	1	1	0	1	1	0	4	2	2	1	3	1	2	1	3	1	6	4			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:53762250T>C	ENST00000341702.3	+	1	706	c.622T>C	c.(622-624)Tac>Cac	p.Y208H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	208					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGCCCCGACATACATTGGTCT	0.473																																						.											0													54	54	54					19																	53762250		2203	4300	6503	SO:0001583	missense	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.622T>C	19.37:g.53762250T>C	ENSP00000351244:p.Tyr208His		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	8.543	0.873682	0.17322	.	.	ENSG00000196131	ENST00000341702	T	0.05199	3.48	2.94	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.06690	0.0171	L	0.39147	1.195	0.09310	N	1	P	0.37548	0.599	B	0.41135	0.348	T	0.34004	-0.9846	9	0.42905	T	0.14	.	4.7136	0.12884	0.0:0.2716:0.0:0.7284	.	208	Q8NFZ6	VN1R2_HUMAN	H	208	ENSP00000351244:Y208H	ENSP00000351244:Y208H	Y	+	1	0	VN1R2	58454062	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	0.011000	0.13264	0.560000	0.29169	0.486000	0.48141	TAC		0.473	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		C	53762250	T	C	53762250	3	2	64	1	0	0	0	0	1	0	0	0	17176	1406	49	4	624	4	VN1R2	19	53762250	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	1257132	53762250	5366733	72	6270											
ZNF628	89887	mdanderson.org	37	chr19	55994240	55994240	+	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	cgtcgccaccgccacgtgcaCactggcgagaggccccacgc	7	3	12	19	6	0	1	0	0	0	1	1	2	0	1	5	2	1	1	5	2	0	0	rs12981044	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr19:55994240C>T	ENST00000598519.1	+	3	2233	c.1680C>T	c.(1678-1680)caC>caT	p.H560H	ZNF628_ENST00000391718.2_Silent_p.H556H|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	560					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)		GCCACGTGCACACTGGCGAGA	0.716													N|||	2845	0.568091	0.6717	0.536	5008	,	,		12336	0.4375		0.5368	False		,,,				2504	0.6176					.											0										2855,1543		931,993,275	22	23	23		1668	3.1	1	19	dbSNP_121	23	4867,3723		1367,2133,795	no	coding-synonymous	ZNF628	NM_033113.2		2298,3126,1070	TT,TC,CC		43.3411,35.0841,40.5451		556/1056	55994240	7722,5266	2199	4295	6494	SO:0001819	synonymous_variant	89887			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.1680C>T	19.37:g.55994240C>T			Q86X34	Silent	SNP	ENST00000598519.1	37	CCDS33116.3																																																																																				0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		T	55994240	C	T	55994240	2	4	64	1	0	0	0	0	0	0	0	1	18049	477	17	4		4	ZNF628	19	55994240	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	2231990	55994240	3134743	73	6271											
JAG1	182	broad.mit.edu	37	chr20	10629266	10629266	+	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	ttgatttcattctgacagtgAcccccattcaaacaggggtt	10	13	8	10	0	3	3	2	3	1	0	3	3	3	3	2	2	1	1	2	2	1	5			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr20:10629266A>G	ENST00000254958.5	-	12	2015	c.1500T>C	c.(1498-1500)ggT>ggC	p.G500G	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.G341G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	500	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|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)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTGACAGTGACCCCCATTCA	0.498									Alagille Syndrome																													.											0													77	73	74					20																	10629266		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1500T>C	20.37:g.10629266A>G			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																				0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		G	10629266	A	G	10629266	2	3	64	1	0	0	0	0	0	0	0	1	7934	262	10	2		2	JAG1	20	10629266	Silent	SNP	A	TCGA-KO-8415-01A-11D-2310-10		10629266	52396254	74	6272											
CST2	1470	mdanderson.org	37	chr20	23805930	23805930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggttcggcccacctctaTgtcgaagaagtaattcaccc	10	11	8	12	2	2	1	1	0	1	1	4	2	2	1	3	2	0	2	3	2	5	5	rs199856966		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr20:23805930T>C	ENST00000304725.2	-	2	329	c.259A>G	c.(259-261)Ata>Gta	p.I87V		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	87					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CCCACCTCTATGTCGAAGAAG	0.537																																					Pancreas(193;496 3017 22514 29918)	.											0													314	240	265					20																	23805930		2203	4300	6503	SO:0001583	missense	1470			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.259A>G	20.37:g.23805930T>C	ENSP00000307540:p.Ile87Val		Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.972408	0.00457	.	.	ENSG00000170369	ENST00000304725	T	0.11169	2.8	2.36	1.34	0.21922	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.163089	0.40818	N	0.001002	T	0.01523	0.0049	N	0.00150	-1.985	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43718	-0.9374	10	0.02654	T	1	.	5.1107	0.14808	0.0:0.6785:0.0:0.3215	.	87	P09228	CYTT_HUMAN	V	87	ENSP00000307540:I87V	ENSP00000307540:I87V	I	-	1	0	CST2	23753930	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.283000	0.08433	-0.065000	0.13021	-0.665000	0.03846	ATA		0.537	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			C	23805930	T	C	23805930	3	2	64	1	0	0	0	0	1	0	0	0	3972	1464	51	4	174	4	CST2	20	23805930	Missense_Mutation	SNP	T	TCGA-KO-8415-01A-11D-2310-10	13176664	23805930	39219590	75	6273											
BAGE2	85319	mdanderson.org	37	chr21	11058230	11058230	+	RNA	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	actgaaatcctgaaaggtgtCggctcctgcagcacaaggat	12	8	11	10	1	0	2	0	2	0	0	3	3	2	3	2	3	2	3	2	3	3	0	rs372289393		TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr21:11058230C>A	ENST00000470054.1	-	0	417							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)		TGAAAGGTGTCGGCTCCTGCA	0.418																																						.											0													92	72	78					21																	11058230		692	1591	2283			85319			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.11058230C>A			A8K925|Q08ER0	Silent	SNP	ENST00000470054.1	37																																																																																					0.418	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11058230	C	A	11058230	1	1	64	0	1	0	0	0	0	0	0	0	1292	871	31	5		5	BAGE2	21	11058230	RNA	SNP	C	TCGA-KO-8415-01A-11D-2310-10		11058230	37071665	76	6274											
KRTAP10-4	386672	mdanderson.org	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-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	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																																						.											0													20	38	32					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672			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			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	64	1	0	0	0	0	0	0	0	1	8511	776	27	1		1	KRTAP10-4	21	45993851	Silent	SNP	C	TCGA-KO-8415-01A-11D-2310-10	34935621	45993851	2136044	77	6275											
SCARF2	91179	mdanderson.org	37	chr22	20780296	20780296	+	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	gcttggtggcggggtcaggtGgcggcggtttcctgcgctcg	1	10	20	10	5	1	0	1	0	0	0	3	0	2	0	1	8	1	3	1	8	0	2	rs9680797	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chr22:20780296G>A	ENST00000266214.5	-	11	2086	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	SCARF2_ENST00000405555.3_Missense_Mutation_p.P656L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	661	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)			GGGGTCAGGTGGCGGCGGTTT	0.756													g|||	68	0.0135783	8e-04	0.0303	5008	,	,		7971	0		0.0398	False		,,,				2504	0.0061					.											0									LEU/PRO,LEU/PRO	27,4371		0,27,2172	16	20	19		1982,1967	3.4	0.9	22	dbSNP_119	19	316,8274		10,296,3989	yes	missense,missense	SCARF2	NM_153334.4,NM_182895.2	98,98	10,323,6161	AA,AG,GG		3.6787,0.6139,2.6409	probably-damaging,probably-damaging	661/871,656/866	20780296	343,12645	2199	4295	6494	SO:0001583	missense	91179			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.1982C>T	22.37:g.20780296G>A	ENSP00000266214:p.Pro661Leu		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	43	0.019688644688644688	4	0.008130081300813009	9	0.024861878453038673	0	0.0	30	0.0395778364116095	g	15.57	2.873045	0.51695	0.006139	0.036787	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.22539	2.01;1.95	3.38	3.38	0.38709	.	0.084416	0.47093	U	0.000259	T	0.07458	0.0188	L	0.29908	0.895	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.01405	-1.1363	10	0.11485	T	0.65	.	12.6984	0.57018	0.0:0.0:1.0:0.0	rs9680797	656;656	E5RFB8;Q96GP6	.;SREC2_HUMAN	L	656;656;661	ENSP00000385589:P656L;ENSP00000266214:P661L	ENSP00000266214:P661L	P	-	2	0	SCARF2	19110296	1.000000	0.71417	0.865000	0.33974	0.132000	0.20833	8.286000	0.89916	1.917000	0.55516	0.441000	0.28932	CCA		0.756	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			A	20780296	G	A	20780296	3	1	64	1	0	0	0	0	1	0	0	0	13884	1348	47	4	634	4	SCARF2	22	20780296	Missense_Mutation	SNP	G	TCGA-KO-8415-01A-11D-2310-10		20780296	30524270	78	6276											
ARSD	414	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chrX	2827911	2827911	+	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	accacagtagggaacacgtcCatcaggctcgtgggctctcc	9	7	11	14	2	2	0	1	0	1	0	5	1	3	1	3	3	1	3	3	3	2	1			TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chrX:2827911C>G	ENST00000381154.1	-	8	1320	c.1245G>C	c.(1243-1245)atG>atC	p.M415I		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	415					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAACACGTCCATCAGGCTCG	0.612																																						.											0													49	43	45					X																	2827911		2203	4300	6503	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1245G>C	X.37:g.2827911C>G	ENSP00000370546:p.Met415Ile		Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031848	0.54790	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.98493	-4.96;-3.03	2.98	2.98	0.34508	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.98353	0.9453	L	0.60012	1.86	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	D	0.98773	1.0729	10	0.66056	D	0.02	.	13.7858	0.63108	0.0:1.0:0.0:0.0	.	415	P51689	ARSD_HUMAN	I	415;17	ENSP00000370546:M415I;ENSP00000409180:M17I	ENSP00000370546:M415I	M	-	3	0	ARSD	2837911	1.000000	0.71417	0.838000	0.33150	0.203000	0.24098	4.688000	0.61715	1.286000	0.44565	0.436000	0.28706	ATG		0.612	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			G	2827911	C	G	2827911	3	3	64	1	0	0	0	0	1	0	0	0	989	594	21	5	548	5	ARSD	23	2827911	Missense_Mutation	SNP	C	TCGA-KO-8415-01A-11D-2310-10		2827911	152442649	79	6277											
PRKX	5613	mdanderson.org	37	chrX	3631167	3631167	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtcctgcaggctgtacAcaggcggctccggcgacagc	9	5	13	14	3	0	0	0	0	0	0	2	1	2	0	2	4	3	4	2	4	2	1	rs3752362	byFrequency	TCGA-KO-8415-01A-11D-2310-10	TCGA-KO-8415-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ebde5c33-4b0f-4c3d-bf45-52b2d54093ec	6ae02049-78de-46c7-af90-146bd04cb94e	g.chrX:3631167A>G	ENST00000262848.5	-	1	482	c.128T>C	c.(127-129)gTg>gCg	p.V43A		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	43			V -> A (in dbSNP:rs3752362).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CAGGCTGTACACAGGCGGCTC	0.751													N|||	2672	0.707815	0.736	0.4856	3775	,	,		7851	0.6944		0.2644	False		,,,				2504	0.4049					.											0								G	ALA/VAL	3226,436		1253,279,441,50,57	6	5	6		128	-0.4	0	X	dbSNP_107	6	2368,4079		373,1000,622,979,1121	yes	missense	PRKX	NM_005044.4	64	1626,1279,1063,1029,1178	GG,GA,G,AA,A		36.7303,11.9061,44.6632	benign	43/359	3631167	5594,4515	2080	4095	6175	SO:0001583	missense	5613				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.128T>C	X.37:g.3631167A>G	ENSP00000262848:p.Val43Ala			Missense_Mutation	SNP	ENST00000262848.5	37	CCDS14125.1	1097	0.6612417118746232	255	0.8673469387755102	120	0.47619047619047616	261	0.8474025974025974	133	0.20336391437308868	G	2.016	-0.425905	0.04701	0.880939	0.367303	ENSG00000183943	ENST00000262848	T	0.07908	3.15	1.08	-0.453	0.12201	Protein kinase-like domain (1);	0.957488	0.08497	N	0.937090	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.07908	-1.0748	9	0.38643	T	0.18	.	1.5859	0.02644	0.284:0.0:0.3851:0.3309	rs3752362;rs57248025	43	P51817	PRKX_HUMAN	A	43	ENSP00000262848:V43A	ENSP00000262848:V43A	V	-	2	0	PRKX	3641167	0.007000	0.16637	0.001000	0.08648	0.016000	0.09150	-0.380000	0.07427	-0.338000	0.08413	-0.697000	0.03683	GTG		0.751	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		G	3631167	A	G	3631167	3	3	64	1	0	0	0	0	1	0	0	0	12527	159	6	2	980	2	PRKX	23	3631167	Missense_Mutation	SNP	A	TCGA-KO-8415-01A-11D-2310-10	803256	3631167	151639393	80	6278											
CLCNKB	1188	broad.mit.edu;mdanderson.org	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-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	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																																						.											0													66	64	65					1																	16383402		2203	4300	6503	SO:0001819	synonymous_variant	1188			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			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	65	1	0	0	0	0	0	0	0	1	3470	610	22	3		3	CLCNKB	1	16383402	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		16383402	232867219	1	6279											
ZMYM4	9202	ucsc.edu	37	chr1	35865108	35865108	+	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	tttgacccacttaataaaggAcagggaatccaggcacgttc	13	9	9	10	1	0	1	0	1	0	0	2	3	1	3	2	3	0	2	2	3	4	4			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:35865108A>G	ENST00000314607.6	+	23	3539	c.3459A>G	c.(3457-3459)ggA>ggG	p.G1153G	ZMYM4_ENST00000373297.2_Silent_p.G1064G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1153					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)				TTAATAAAGGACAGGGAATCC	0.408																																						.											0													83	83	83					1																	35865108		2203	4300	6503	SO:0001819	synonymous_variant	9202			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.3459A>G	1.37:g.35865108A>G			A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	9.861	1.196401	0.22037	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.38	0.146	0.14833	.	.	.	.	.	T	0.42517	0.1206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20273	-1.0280	4	.	.	.	-10.5428	2.3725	0.04334	0.5597:0.1194:0.2068:0.1141	.	.	.	.	A	812	.	.	T	+	1	0	ZMYM4	35637695	0.998000	0.40836	0.994000	0.49952	0.974000	0.67602	0.553000	0.23391	-0.188000	0.10499	-1.887000	0.00540	ACA		0.408	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		G	35865108	A	G	35865108	2	3	65	1	0	0	0	0	0	0	0	1	17699	262	10	2		2	ZMYM4	1	35865108	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10	19481706	35865108	213385513	2	6280											
NRD1	4898	mdanderson.org	37	chr1	52306075	52306075	+	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	tcatcatcatcttcttcttcTtcctccacctcctcttcttc	4	19	0	18	0	9	0	3	0	6	0	13	0	12	0	4	0	0	0	4	0	0	6	rs78724482	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:52306075T>C	ENST00000354831.7	-	2	642	c.453A>G	c.(451-453)gaA>gaG	p.E151E	NRD1_ENST00000544028.1_Silent_p.E19E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.E19E|NRD1_ENST00000352171.7_Silent_p.E151E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						cttcttcttcttcctccacct	0.388																																						.											0													165	136	146					1																	52306075		2203	4300	6503	SO:0001819	synonymous_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.453A>G	1.37:g.52306075T>C			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	CCDS559.1																																																																																				0.388	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		C	52306075	T	C	52306075	2	2	65	1	0	0	0	0	0	0	0	1	10645	1606	56	2		2	NRD1	1	52306075	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	16440967	52306075	196944546	3	6281											
PDE4DIP	9659	bcgsc.ca	37	chr1	144906195	144906195	+	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	caaccagttgcatttgcaggTcctagaagtcaaaaaataag	16	9	8	8	0	1	1	1	0	0	1	2	1	2	1	2	1	3	3	2	1	7	4			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:144906195T>C	ENST00000369354.3	-	19	2627	c.2438A>G	c.(2437-2439)gAc>gGc	p.D813G	PDE4DIP_ENST00000369349.3_Splice_Site_p.D813G|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000479408.2_Splice_Site_p.D600G|PDE4DIP_ENST00000529945.1_Splice_Site_p.D976G|PDE4DIP_ENST00000530740.1_Splice_Site_p.D950G|PDE4DIP_ENST00000369356.4_Splice_Site_p.D813G|PDE4DIP_ENST00000369351.3_Splice_Site_p.D813G|PDE4DIP_ENST00000313382.9_Splice_Site_p.D879G|PDE4DIP_ENST00000313431.9_Splice_Site_p.D976G|PDE4DIP_ENST00000369359.4_Splice_Site_p.D950G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	813					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)		CATTTGCAGGTCCTAGAAGTC	0.398			T	PDGFRB	MPD																																	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													77	80	79					1																	144906195		2203	4296	6499	SO:0001630	splice_region_variant	9659			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.2437-1A>G	1.37:g.144906195T>C			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	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258082	0.80246	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.18810	4.41;4.34;4.34;4.31;4.24;3.42;3.4;2.32;2.35;2.19	5.97	5.97	0.96955	.	.	.	.	.	T	0.24586	0.0596	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999	D;D;D;D;D	0.91635	0.998;0.981;0.999;0.978;0.985	T	0.02721	-1.1119	9	0.46703	T	0.11	.	12.9928	0.58630	0.0:0.0:0.0:1.0	.	976;813;976;879;813	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	G	879;813;813;976;950;950;813;813;976;976;600	ENSP00000327209:D879G;ENSP00000358360:D813G;ENSP00000358363:D813G;ENSP00000435654:D950G;ENSP00000358366:D950G;ENSP00000358357:D813G;ENSP00000358355:D813G;ENSP00000316434:D976G;ENSP00000433392:D976G;ENSP00000436791:D600G	ENSP00000327209:D879G	D	-	2	0	PDE4DIP	143617552	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.735000	0.68587	2.323000	0.78572	0.467000	0.42956	GAC		0.398	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Missense_Mutation	C	144906195	T	C	144906195	5	2	65	1	0	0	0	0	0	0	1	0	11643	1681	58	2	4716	2	PDE4DIP	1	144906195	Splice_Site	SNP	T	TCGA-KO-8416-01A-11D-2310-10	92600120	144906195	104344426	4	6282											
NBPF14	25832	broad.mit.edu	37	chr1	148010987	148010987	+	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	tcaagacaacctgaaggagtTgaataacatctatccagtga	16	9	8	8	0	2	4	1	3	1	1	3	5	3	5	2	1	2	1	2	1	6	3			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:148010987T>C	ENST00000369219.1	-	14	1651	c.1635A>G	c.(1633-1635)tcA>tcG	p.S545S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	545	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S545S(1)		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)					CTGAAGGAGTTGAATAACATC	0.478																																						.											1	Substitution - coding silent(1)	kidney(1)											2	2	2					1																	148010987		627	1514	2141	SO:0001819	synonymous_variant	25832			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.1635A>G	1.37:g.148010987T>C			Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	-	0.755	-0.771349	0.02951	.	.	ENSG00000122497	ENST00000310701	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36480	-0.9746	2	.	.	.	.	.	.	.	.	.	.	.	R	551	.	.	Q	-	2	0	NBPF14	146477611	0.914000	0.31030	0.004000	0.12327	0.003000	0.03518	-0.265000	0.08644	-0.568000	0.06038	-0.564000	0.04169	CAA		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148010987	T	C	148010987	2	2	65	1	0	0	0	0	0	0	0	1	10194	1799	63	4		4	NBPF14	1	148010987	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	3104792	148010987	101239634	5	6283											
FMN2	56776	bcgsc.ca	37	chr1	240497469	240497469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggacctttttcaggccTcacagatgaagtttgaagat	11	11	9	10	0	2	4	2	2	0	2	2	5	2	5	3	2	0	1	3	2	2	3			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:240497469T>C	ENST00000319653.9	+	13	4935	c.4705T>C	c.(4705-4707)Tca>Cca	p.S1569P	FMN2_ENST00000545751.1_Missense_Mutation_p.S165P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1569	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			TTTTCAGGCCTCACAGATGAA	0.368																																						.											0													125	138	134					1																	240497469		2203	4300	6503	SO:0001583	missense	56776			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.4705T>C	1.37:g.240497469T>C	ENSP00000318884:p.Ser1569Pro		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.598050	0.87055	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.20738	2.05;2.05	5.52	5.52	0.82312	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.53938	D	0.000051	T	0.51924	0.1703	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.999	D;D;D;D	0.91635	0.999;0.931;0.999;0.998	T	0.59862	-0.7374	10	0.87932	D	0	.	15.6348	0.76944	0.0:0.0:0.0:1.0	.	165;215;198;1569	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	P	1569;165;196;45	ENSP00000318884:S1569P;ENSP00000437918:S165P	ENSP00000318884:S1569P	S	+	1	0	FMN2	238564092	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	5.067000	0.64357	2.096000	0.63516	0.459000	0.35465	TCA		0.368	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		C	240497469	T	C	240497469	3	2	65	1	0	0	0	0	1	0	0	0	5950	1551	54	2	4755	2	FMN2	1	240497469	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	92486482	240497469	8753152	6	6284											
KIF26B	55083	mdanderson.org	37	chr1	245851609	245851609	+	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	ccagggctccagctcgccccCcggtgggaagcacacgccct	6	4	12	19	3	0	0	0	0	0	0	2	1	1	1	6	3	2	3	6	3	1	0	rs150834033	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr1:245851609C>G	ENST00000407071.2	+	12	5764	c.5324C>G	c.(5323-5325)cCc>cGc	p.P1775R	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1394R	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1775	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)			AGCTCGCCCCCCGGTGGGAAG	0.721													C|||	70	0.0139776	0.0023	0.0274	5008	,	,		10300	0.002		0.0308	False		,,,				2504	0.0153					.											0								C	ARG/PRO	25,3179		2,21,1579	8	9	9		5324	5.3	0	1	dbSNP_134	9	219,6715		2,215,3250	yes	missense	KIF26B	NM_018012.3	103	4,236,4829	GG,GC,CC		3.1584,0.7803,2.4068	probably-damaging	1775/2109	245851609	244,9894	1602	3467	5069	SO:0001583	missense	55083			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.5324C>G	1.37:g.245851609C>G	ENSP00000385545:p.Pro1775Arg		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	37	0.01694139194139194	4	0.008130081300813009	10	0.027624309392265192	1	0.0017482517482517483	22	0.029023746701846966	C	12.79	2.043373	0.36085	0.007803	0.031584	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.83837	-1.77;-1.76	5.29	5.29	0.74685	.	.	.	.	.	T	0.76744	0.4030	M	0.78801	2.425	0.80722	D	1	D;D	0.57899	0.981;0.966	P;P	0.52758	0.708;0.564	D	0.85045	0.0925	9	0.87932	D	0	.	18.9252	0.92541	0.0:1.0:0.0:0.0	.	1394;1775	B7WPD9;Q2KJY2	.;KI26B_HUMAN	R	1775;1394;1391	ENSP00000385545:P1775R;ENSP00000355475:P1394R	ENSP00000355475:P1394R	P	+	2	0	KIF26B	243918232	0.998000	0.40836	0.016000	0.15963	0.081000	0.17604	7.547000	0.82146	2.475000	0.83589	0.462000	0.41574	CCC		0.721	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		G	245851609	C	G	245851609	3	3	65	1	0	0	0	0	1	0	0	0	8295	623	22	5	5370	5	KIF26B	1	245851609	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	5354140	245851609	3399012	7	6285											
FBXO41	150726	mdanderson.org	37	chr2	73492614	73492614	+	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	tgagctgcgagggggctgggAccgctctgagcccccgttgg	4	7	18	12	3	1	2	0	2	1	0	1	4	1	3	3	4	3	4	3	4	0	1	rs526106	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr2:73492614A>T	ENST00000521871.1	-	5	1775	c.1360T>A	c.(1360-1362)Tcc>Acc	p.S454T	FBXO41_ENST00000520530.2_Missense_Mutation_p.S454T|FBXO41_ENST00000295133.5_Missense_Mutation_p.S515T			Q8TF61	FBX41_HUMAN	F-box protein 41	454				S -> T (in Ref. 3; BAB85526). {ECO:0000305}.						breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGGGGCTGGGACCGCTCTGAG	0.716													A|||	1654	0.330272	0.2837	0.2421	5008	,	,		11856	0.4752		0.2674	False		,,,				2504	0.3712					.											0								A	THR/SER	1058,2838		144,770,1034	15	18	17		1360	-0.8	0.9	2	dbSNP_83	17	2135,6093		283,1569,2262	no	missense	FBXO41	NM_001080410.2	58	427,2339,3296	TT,TA,AA		25.948,27.1561,26.3362	benign	454/876	73492614	3193,8931	1948	4114	6062	SO:0001583	missense	150726			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.1360T>A	2.37:g.73492614A>T	ENSP00000428646:p.Ser454Thr		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	714	0.3269230769230769	138	0.2804878048780488	100	0.27624309392265195	275	0.4807692307692308	201	0.26517150395778366	A	13.31	2.199095	0.38806	0.271561	0.25948	ENSG00000163013	ENST00000295133;ENST00000521871	.	.	.	5.52	-0.818	0.10833	.	0.643686	0.15471	N	0.260595	T	0.00012	0.0000	N	0.14661	0.345	0.44611	P	0.0024170000000000025	.	.	.	.	.	.	T	0.43523	-0.9386	6	0.07030	T	0.85	.	0.8479	0.01166	0.1821:0.347:0.2234:0.2476	rs526106	.	.	.	T	515;454	.	ENSP00000295133:S515T	S	-	1	0	FBXO41	73346122	0.998000	0.40836	0.946000	0.38457	0.962000	0.63368	0.752000	0.26362	-0.113000	0.11958	0.454000	0.30748	TCC		0.716	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			T	73492614	A	T	73492614	3	4	65	1	0	0	0	0	1	0	0	0	5750	275	10	5	1303	5	FBXO41	2	73492614	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10		73492614	169706759	8	6286											
ARHGEF3	50650	bcgsc.ca	37	chr3	56789174	56789175	+	Frame_Shift_Ins	INS	-	-	GGAGC																															tctcactgcggaagctaatgINSgagcgctaaacaatgagaaa																										TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr3:56789174_56789175insGGAGC	ENST00000296315.3	-	3	377_378	c.209_210insGCTCC	c.(208-210)tccfs	p.-70fs	ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.-76fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.-102fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.-41fs|ARHGEF3_ENST00000413728.2_Frame_Shift_Ins_p.-76fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.-70fs	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3						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)		GGAAGCTAATGGAGCGCTAAAC	0.55																																						.											0																																										SO:0001589	frameshift_variant	50650			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.209_210insGCTCC	3.37:g.56789174_56789175insGGAGC	ENSP00000296315:p.Ser70fs		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Frame_Shift_Ins	INS	ENST00000296315.3	37	CCDS2878.1																																																																																				0.55	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		GGAGC	56789175	-	GGAGC	56789174	7	5	65	1	0	1	1	0	0	0	0	0	904	1335	47	0	1402	0	ARHGEF3	3	56789174	Frame_Shift_Ins	INS	-	TCGA-KO-8416-01A-11D-2310-10		56789174	141233256	9	6287											
CD80	941	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr3	119263627	119263627	+	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	tctccttttgccagtagatgCgagtttgtgccagctcttca	6	15	9	11	1	3	1	1	0	2	1	4	2	3	1	3	0	4	3	3	0	1	5			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr3:119263627C>T	ENST00000264246.3	-	3	550	c.188G>A	c.(187-189)cGc>cAc	p.R63H	CD80_ENST00000478182.1_Missense_Mutation_p.R63H|CD80_ENST00000383669.3_Missense_Mutation_p.R63H|CD80_ENST00000383668.3_Missense_Mutation_p.R63H	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	63	Ig-like V-type.				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)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	CCAGTAGATGCGAGTTTGTGC	0.468																																					Melanoma(132;135 1764 1806 5833 14593)	.											0													165	141	149					3																	119263627		2203	4300	6503	SO:0001583	missense	941				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.188G>A	3.37:g.119263627C>T	ENSP00000264246:p.Arg63His		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704898	0.68615	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43260	D	0.000584	T	0.82162	0.4977	M	0.83603	2.65	0.21020	N	0.999801	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.998	T	0.75190	-0.3405	10	0.62326	D	0.03	-12.7701	13.9575	0.64160	0.0:1.0:0.0:0.0	.	63;63;63;63	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	H	63	ENSP00000264246:R63H;ENSP00000418364:R63H;ENSP00000373165:R63H;ENSP00000373164:R63H	ENSP00000264246:R63H	R	-	2	0	CD80	120746317	0.550000	0.26489	0.052000	0.19188	0.026000	0.11368	3.213000	0.51153	2.665000	0.90641	0.650000	0.86243	CGC		0.468	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		T	119263627	C	T	119263627	3	4	65	1	0	0	0	0	1	0	0	0	3038	768	27	1	694	1	CD80	3	119263627	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	62474453	119263627	78758803	10	6288											
C4orf44	345222	mdanderson.org	37	chr4	3257593	3257593	+	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	acctgccgcgaggtgcgccgCgtgctggaccagcagcacat	7	5	14	15	5	0	0	0	0	0	0	0	2	0	1	4	2	5	3	4	2	0	0	rs362287	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr4:3257593C>T	ENST00000438480.2	+	3	2485	c.738C>T	c.(736-738)cgC>cgT	p.R246R	MSANTD1_ENST00000507492.1_Silent_p.R233R|MSANTD1_ENST00000510580.1_Silent_p.R246R	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	246										endometrium(1)|lung(2)	3						AGGTGCGCCGCGTGCTGGACC	0.667													C|||	1288	0.257188	0.0802	0.3069	5008	,	,		14882	0.3343		0.3787	False		,,,				2504	0.2566					.											0								C		442,3382		40,362,1510	7	8	8		738	-0.3	1	4	dbSNP_79	8	2174,5164		319,1536,1814	no	coding-synonymous	C4orf44	NM_001042690.1		359,1898,3324	TT,TC,CC		29.6266,11.5586,23.4367		246/279	3257593	2616,8546	1912	3669	5581	SO:0001819	synonymous_variant	345222				CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 44"	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.738C>T	4.37:g.3257593C>T			C9J6V0	Silent	SNP	ENST00000438480.2	37	CCDS47003.1																																																																																				0.667	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370924.1	NM_001012982		T	3257593	C	T	3257593	2	4	65	1	0	0	0	0	0	0	0	1	2272	755	27	1		1	C4orf44	4	3257593	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		3257593	187896683	11	6289											
YTHDC1	91746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr4	69195975	69195975	+	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	aagataacactccttgcagaTctaaatgcaagatttaattt	16	13	5	7	0	1	3	0	0	1	3	2	3	2	3	1	0	3	2	1	0	6	6			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr4:69195975T>A	ENST00000344157.4	-	8	1511	c.1176A>T	c.(1174-1176)agA>agT	p.R392S	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R374S|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R392S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	392	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCCTTGCAGATCTAAATGCAA	0.294																																						.											0													32	33	33					4																	69195975		2196	4285	6481	SO:0001583	missense	91746			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.1176A>T	4.37:g.69195975T>A	ENSP00000339245:p.Arg392Ser		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.256900	0.59321	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30981	1.51;1.51	5.44	4.27	0.50696	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.80183	2.485	0.80722	D	1	D;D	0.64830	0.971;0.994	D;D	0.75020	0.981;0.985	T	0.58781	-0.7576	10	0.87932	D	0	.	11.0667	0.47979	0.0:0.0727:0.0:0.9273	.	374;392	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	S	392;374	ENSP00000339245:R392S;ENSP00000347888:R374S	ENSP00000339245:R392S	R	-	3	2	YTHDC1	68878570	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.624000	0.46444	0.921000	0.36994	0.482000	0.46254	AGA		0.294	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		A	69195975	T	A	69195975	3	1	65	1	0	0	0	0	1	0	0	0	17493	1432	50	5	1047	5	YTHDC1	4	69195975	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	65938382	69195975	121958301	12	6290											
GK2	2712	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr4	80328442	80328442	+	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	ctctctgcctagtttgtaagCtactgtggtcaaaaggccat	9	13	9	10	0	2	0	1	0	1	0	3	0	2	0	2	2	3	3	2	2	5	4			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr4:80328442C>A	ENST00000358842.3	-	1	930	c.913G>T	c.(913-915)Gct>Tct	p.A305S		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						AGTTTGTAAGCTACTGTGGTC	0.438																																						.											0													122	106	111					4																	80328442		2203	4300	6503	SO:0001583	missense	2712			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.913G>T	4.37:g.80328442C>A	ENSP00000351706:p.Ala305Ser		Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541867	0.45280	.	.	ENSG00000196475	ENST00000358842	D	0.91068	-2.78	4.18	4.18	0.49190	Carbohydrate kinase, FGGY, C-terminal (1);	0.171235	0.50627	D	0.000109	D	0.95984	0.8692	M	0.93978	3.48	0.58432	D	0.999995	D	0.65815	0.995	D	0.72338	0.977	D	0.96118	0.9082	10	0.72032	D	0.01	-12.0764	12.3114	0.54929	0.0:1.0:0.0:0.0	.	305	Q14410	GLPK2_HUMAN	S	305	ENSP00000351706:A305S	ENSP00000351706:A305S	A	-	1	0	GK2	80547466	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.529000	0.73812	2.645000	0.89757	0.585000	0.79938	GCT		0.438	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		A	80328442	C	A	80328442	3	1	65	1	0	0	0	0	1	0	0	0	6421	797	28	5	752	5	GK2	4	80328442	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	11132467	80328442	110825834	13	6291											
MRPS30	10884	mdanderson.org	37	chr5	44809454	44809454	+	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	gagcccgagcccgagcccgaAcccgaacctgaacctgcgct	9	3	11	18	5	0	1	0	1	0	0	0	6	0	1	6	0	7	1	6	0	3	0	rs142383960		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr5:44809454A>G	ENST00000507110.1	+	1	428	c.390A>G	c.(388-390)gaA>gaG	p.E130E	RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	130					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					ccgagcccgaacccgaacctg	0.706																																						.											0													13	15	14					5																	44809454		2196	4295	6491	SO:0001819	synonymous_variant	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.390A>G	5.37:g.44809454A>G			Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	CCDS3951.1																																																																																				0.706	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		G	44809454	A	G	44809454	2	3	65	1	0	0	0	0	0	0	0	1	9840	40	2	2		2	MRPS30	5	44809454	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10		44809454	136105806	14	6292											
C5orf44	80006	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	64942924	64942924	+	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	agcgtttaaatctttcagccTccaatgctgcagtggctgaa	10	12	9	10	1	2	1	1	1	1	0	3	1	3	1	2	1	4	4	2	1	4	3			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr5:64942924T>A	ENST00000399438.3	+	5	688	c.343T>A	c.(343-345)Tcc>Acc	p.S115T	TRAPPC13_ENST00000438419.2_Missense_Mutation_p.S115T|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.S115T|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.S115T|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.S115T	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	115																	TCTTTCAGCCTCCAATGCTGC	0.358																																						.											0													67	62	64					5																	64942924		1824	4087	5911	SO:0001583	missense	80006				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.343T>A	5.37:g.64942924T>A	ENSP00000382367:p.Ser115Thr		Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133539	0.56828	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	L	0.35854	1.095	0.80722	D	1	B;B;B;B	0.16603	0.015;0.006;0.015;0.018	B;B;B;B	0.23018	0.026;0.015;0.026;0.043	T	0.51474	-0.8701	9	0.44086	T	0.13	-26.3722	15.8523	0.78943	0.0:0.0:0.0:1.0	.	115;115;115;115	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	T	115	.	ENSP00000231526:S115T	S	+	1	0	C5orf44	64978680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.153000	0.67306	0.455000	0.32223	TCC		0.358	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		A	64942924	T	A	64942924	3	1	65	1	0	0	0	0	1	0	0	0	2303	1551	54	5	361	5	C5orf44	5	64942924	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	20133470	64942924	115972336	15	6293											
MCTP1	79772	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr5	94253666	94253666	+	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	gcccaggacaggaagagctgGcctgccgcacgtctggatgg	8	5	16	12	2	1	1	0	0	1	1	1	4	1	4	3	5	2	2	3	5	1	0			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr5:94253666G>C	ENST00000515393.1	-	8	1284	c.1285C>G	c.(1285-1287)Cca>Gca	p.P429A	MCTP1_ENST00000312216.8_Missense_Mutation_p.P208A|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000505208.1_Missense_Mutation_p.P208A|MCTP1_ENST00000429576.2_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	429					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGAAGAGCTGGCCTGCCGCAC	0.428																																						.											0													66	70	68					5																	94253666		2203	4300	6503	SO:0001583	missense	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1285C>G	5.37:g.94253666G>C	ENSP00000424126:p.Pro429Ala		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360751	0.24598	.	.	ENSG00000175471	ENST00000515393;ENST00000312216;ENST00000512425;ENST00000505208	T;T;T;T	0.76709	-1.04;-0.91;-0.86;-1.03	5.14	3.35	0.38373	.	0.184499	0.33327	N	0.005036	T	0.60779	0.2295	N	0.22421	0.69	0.22591	N	0.998957	B;B	0.22683	0.043;0.073	B;B	0.21917	0.025;0.037	T	0.48198	-0.9056	10	0.32370	T	0.25	-0.7513	6.646	0.22934	0.0906:0.0:0.7344:0.175	.	429;208	Q6DN14;Q6DN14-2	MCTP1_HUMAN;.	A	429;208;90;208	ENSP00000424126:P429A;ENSP00000308957:P208A;ENSP00000431075:P90A;ENSP00000426438:P208A	ENSP00000308957:P208A	P	-	1	0	MCTP1	94279422	1.000000	0.71417	0.977000	0.42913	0.388000	0.30384	2.101000	0.41787	0.742000	0.32697	0.655000	0.94253	CCA		0.428	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		C	94253666	G	C	94253666	3	2	65	1	0	0	0	0	1	0	0	0	9400	1203	42	5	1778	5	MCTP1	5	94253666	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	29310742	94253666	86661594	16	6294											
HIST1H2BK	85236	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr6	27114569	27114569	+	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	gcgggagcggacttcgctggTtccggcatgttgaaggcgaa	7	8	17	9	5	0	1	0	1	0	0	2	4	1	3	1	5	1	4	1	5	2	3			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr6:27114569T>C	ENST00000356950.1	-	1	8	c.9A>G	c.(7-9)gaA>gaG	p.E3E	HIST1H2BK_ENST00000396891.4_Silent_p.E3E|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACTTCGCTGGTTCCGGCATGT	0.562																																						.											0													51	51	51					6																	27114569		2203	4300	6503	SO:0001819	synonymous_variant	85236			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.9A>G	6.37:g.27114569T>C			A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																				0.562	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		C	27114569	T	C	27114569	2	2	65	1	0	0	0	0	0	0	0	1	7150	1722	60	2		2	HIST1H2BK	6	27114569	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10		27114569	144000498	17	6295											
SYNE1	23345	bcgsc.ca	37	chr6	152590301	152590301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactttactttttgttgctGgagactgctctgccgctgct	5	16	9	11	1	1	1	0	0	1	1	1	2	1	1	1	1	5	5	1	1	1	5			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr6:152590301G>T	ENST00000367255.5	-	99	19295	c.18694C>A	c.(18694-18696)Cag>Aag	p.Q6232K	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5844K|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q756K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6232K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6161K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6161K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6232					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)		TTTTGTTGCTGGAGACTGCTC	0.547										HNSCC(10;0.0054)																												.											0													114	105	108					6																	152590301		2203	4300	6503	SO:0001583	missense	23345			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.18694C>A	6.37:g.152590301G>T	ENSP00000356224:p.Gln6232Lys		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	.	.	.	.	.	.	.	.	.	.	G	32	5.127081	0.94429	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.58797	0.4;0.39;0.31;0.39;0.55;1.02	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000020	T	0.65481	0.2695	M	0.69823	2.125	0.80722	D	1	D;D;D	0.58268	0.97;0.97;0.982	P;P;P	0.54629	0.576;0.576;0.757	T	0.64854	-0.6309	10	0.46703	T	0.11	.	19.9066	0.97010	0.0:0.0:1.0:0.0	.	6232;6232;6161	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	6232;6161;6232;6161;5844;756	ENSP00000356224:Q6232K;ENSP00000396024:Q6161K;ENSP00000265368:Q6232K;ENSP00000390975:Q6161K;ENSP00000341887:Q5844K;ENSP00000349276:Q756K	ENSP00000265368:Q6232K	Q	-	1	0	SYNE1	152631994	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.269000	0.95684	2.779000	0.95612	0.655000	0.94253	CAG		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152590301	G	T	152590301	3	4	65	1	0	0	0	0	1	0	0	0	15442	1357	47	5	7964	5	SYNE1	6	152590301	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	125475732	152590301	18524766	18	6296											
BAZ1B	9031	mdanderson.org	37	chr7	72861634	72861634	+	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	taatcttcttcctcctcctcCtcttcttcctcctcctcctc	2	18	0	21	0	4	0	0	0	4	0	13	0	12	0	8	0	0	0	8	0	1	5			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr7:72861634C>T	ENST00000339594.4	-	16	4142	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	BAZ1B_ENST00000404251.1_Silent_p.E1268E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1268	Poly-Glu.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cctcctcctcctcttcttcct	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	.											0													178	145	156					7																	72861634		2203	4300	6503	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3804G>A	7.37:g.72861634C>T			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		T	72861634	C	T	72861634	2	4	65	1	0	0	0	0	0	0	0	1	1330	680	24	4		4	BAZ1B	7	72861634	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		72861634	86277029	19	6297											
RP1L1	94137	hgsc.bcm.edu	37	chr8	10465962	10465962	+	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	tcttctgactctggctgggcCtctccttctgcctctggggc	1	14	11	15	0	6	1	0	1	6	0	7	1	6	1	3	4	1	1	3	4	0	2	rs111646478	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:10465962C>A	ENST00000382483.3	-	4	5869	c.5646G>T	c.(5644-5646)gaG>gaT	p.E1882D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1962					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)		CTGGCTGGGCCTCTCCTTCTG	0.617													C|||	159	0.0317492	0.0061	0.0548	5008	,	,		16897	0.001		0.0805	False		,,,				2504	0.0317					.											0													156	173	168					8																	10465962		1942	4150	6092	SO:0001583	missense	94137			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.5646G>T	8.37:g.10465962C>A	ENSP00000371923:p.Glu1882Asp		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530264	0.13127	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	1.4	-2.79	0.05841	.	.	.	.	.	T	0.04861	0.0131	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.44267	-0.9339	9	0.23891	T	0.37	.	7.224	0.26005	0.6018:0.3982:0.0:0.0	.	1882	A6NKC6	.	D	1882	ENSP00000371923:E1882D	ENSP00000371923:E1882D	E	-	3	2	RP1L1	10503372	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-3.895000	0.00340	-0.232000	0.09811	-0.516000	0.04426	GAG		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10465962	C	A	10465962	3	1	65	1	0	0	0	0	1	0	0	0	13533	680	24	5	1560	5	RP1L1	8	10465962	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10		10465962	135898060	20	6298											
AMAC1L2	83650	mdanderson.org	37	chr8	11188748	11188748	+	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	atggcctgctggtggccctgCtgggtgggggcctgcctgct	1	10	18	12	0	0	0	0	0	0	0	0	0	0	0	4	6	4	3	4	6	0	0	rs538767857	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:11188748C>A	ENST00000382435.4	+	1	352	c.133C>A	c.(133-135)Ctg>Atg	p.L45M		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	45						integral component of membrane (GO:0016021)											GGTGGCCCTGCTGGGTGGGGG	0.677													C|||	3	0.000599042	8e-04	0.0014	5008	,	,		16814	0.001		0	False		,,,				2504	0					.											0													47	54	52					8																	11188748		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.133C>A	8.37:g.11188748C>A	ENSP00000371872:p.Leu45Met		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	8.482	0.859971	0.17178	.	.	ENSG00000177710	ENST00000382435	T	0.34275	1.37	0.34	0.34	0.15985	.	0.230767	0.22238	N	0.062730	T	0.18841	0.0452	N	0.24115	0.695	0.31574	N	0.655966	B	0.13145	0.007	B	0.14578	0.011	T	0.06570	-1.0819	10	0.52906	T	0.07	-3.4659	2.848	0.05549	0.0:0.5979:0.0:0.4021	.	45	Q96KT7	S35G5_HUMAN	M	45	ENSP00000371872:L45M	ENSP00000371872:L45M	L	+	1	2	SLC35G5	11226158	0.990000	0.36364	0.929000	0.37066	0.229000	0.25112	-0.196000	0.09532	0.426000	0.26116	0.089000	0.15464	CTG		0.677	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11188748	C	A	11188748	3	1	65	1	0	0	0	0	1	0	0	0	560	796	28	5	135	5	AMAC1L2	8	11188748	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	722786	11188748	135175274	21	6299											
MTMR7	9108	ucsc.edu	37	chr8	17206529	17206529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaatttggaactccccActatgatgtgtgccgtggcc	7	11	11	12	2	0	1	0	1	0	0	2	3	2	3	5	3	2	0	5	3	3	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:17206529A>G	ENST00000180173.5	-	5	564	c.530T>C	c.(529-531)gTg>gCg	p.V177A	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.V177A	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	177	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)		GGAACTCCCCACTATGATGTG	0.428																																						.											0													135	129	131					8																	17206529		2203	4300	6503	SO:0001583	missense	9108			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.530T>C	8.37:g.17206529A>G	ENSP00000180173:p.Val177Ala		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865172	0.91511	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.92595	-3.07;-3.07	5.24	5.24	0.73138	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.241929	0.41823	D	0.000808	D	0.92750	0.7695	L	0.52364	1.645	0.80722	D	1	P	0.43024	0.798	P	0.54372	0.75	D	0.90246	0.4290	10	0.15499	T	0.54	.	15.851	0.78930	1.0:0.0:0.0:0.0	.	177	Q9Y216	MTMR7_HUMAN	A	177	ENSP00000180173:V177A;ENSP00000429733:V177A	ENSP00000180173:V177A	V	-	2	0	MTMR7	17250900	1.000000	0.71417	0.949000	0.38748	0.995000	0.86356	6.971000	0.76105	2.281000	0.76405	0.533000	0.62120	GTG		0.428	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		G	17206529	A	G	17206529	3	3	65	1	0	0	0	0	1	0	0	0	9948	159	6	2	1492	2	MTMR7	8	17206529	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	6017781	17206529	129157493	22	6300											
ARFGEF1	10565	hgsc.bcm.edu	37	chr8	68112661	68112661	+	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	cttatctttagaactttagtTagaaacaaaagcagtaagtt	16	14	6	5	0	1	2	0	0	1	2	1	2	1	2	0	0	3	4	0	0	9	8			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:68112661T>C	ENST00000262215.3	-	38	5744	c.5355A>G	c.(5353-5355)ctA>ctG	p.L1785L	ARFGEF1_ENST00000518230.1_Silent_p.L623L|ARFGEF1_ENST00000520381.1_Silent_p.L1239L|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1785					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)			GAACTTTAGTTAGAAACAAAA	0.428																																						.											0													114	113	113					8																	68112661		2203	4300	6503	SO:0001819	synonymous_variant	10565			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.5355A>G	8.37:g.68112661T>C			Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	CCDS6199.1																																																																																				0.428	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		C	68112661	T	C	68112661	2	2	65	1	0	0	0	0	0	0	0	1	852	1741	61	4		4	ARFGEF1	8	68112661	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	50906132	68112661	78251361	23	6301											
MTDH	92140	ucsc.edu;bcgsc.ca	37	chr8	98736833	98736833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcttttttagccaagTctgaaactagctgggaatct	9	16	7	9	0	3	1	0	1	3	0	3	2	3	2	2	1	3	1	2	1	5	6	rs372764968		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr8:98736833T>C	ENST00000336273.3	+	12	2012	c.1684T>C	c.(1684-1686)Tct>Cct	p.S562P	MTDH_ENST00000519934.1_Missense_Mutation_p.S506P	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	562					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|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 B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TTTAGCCAAGTCTGAAACTAG	0.323																																						.											0													102	104	103					8																	98736833		2203	4300	6503	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1684T>C	8.37:g.98736833T>C	ENSP00000338235:p.Ser562Pro		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766344	0.49574	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.54479	0.57;0.57	5.64	5.64	0.86602	.	0.059502	0.64402	D	0.000001	T	0.64702	0.2622	L	0.42245	1.32	0.49213	D	0.99976	D	0.89917	1.0	D	0.85130	0.997	T	0.63107	-0.6711	10	0.38643	T	0.18	-5.6617	14.4204	0.67180	0.0:0.0:0.0:1.0	.	562	Q86UE4	LYRIC_HUMAN	P	562;506;185	ENSP00000338235:S562P;ENSP00000428168:S506P	ENSP00000338235:S562P	S	+	1	0	MTDH	98806009	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.491000	0.66887	2.148000	0.66965	0.533000	0.62120	TCT		0.323	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			C	98736833	T	C	98736833	3	2	65	1	0	0	0	0	1	0	0	0	9917	1667	58	2	1730	2	MTDH	8	98736833	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	30624172	98736833	47627189	24	6302											
SMARCA2	6595	mdanderson.org	37	chr9	2039815	2039815	+	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	cagcagcagcagcagcagcaGcaacagcagccgcagcagca	14	0	12	15	1	0	0	0	0	0	0	0	0	0	0	1	0	12	11	1	0	1	0	rs574062756	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr9:2039815G>A	ENST00000382203.1	+	4	914	c.705G>A	c.(703-705)caG>caA	p.Q235Q	SMARCA2_ENST00000357248.2_Silent_p.Q235Q|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Silent_p.Q235Q|SMARCA2_ENST00000349721.2_Silent_p.Q235Q|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	235	Poly-Gln.				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)		agcagcagcagcaacagcagc	0.587													G|||	41	0.0081869	0.0151	0.0029	5008	,	,		10366	0.0089		0	False		,,,				2504	0.0102					.											0													10	13	12					9																	2039815		2161	4205	6366	SO:0001819	synonymous_variant	6595			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.705G>A	9.37:g.2039815G>A			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039815	G	A	2039815	2	1	65	1	0	0	0	0	0	0	0	1	14769	962	34	4		4	SMARCA2	9	2039815	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10		2039815	139173616	25	6303											
EPB41L4B	54566	mdanderson.org	37	chr9	112082510	112082510	+	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	gccggcggcggagatgtgcaCggccgcgccgccggtgagca	5	3	19	14	8	0	2	0	1	0	1	0	3	0	2	4	5	2	2	4	5	0	0	rs117569740	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr9:112082510C>T	ENST00000374566.3	-	1	734	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.V73M	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	73				V -> M (in Ref. 2; BAA96079). {ECO:0000305}.	actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGATGTGCACGGCCGCGCCG	0.796													c|||	470	0.0938498	0.0129	0.072	5008	,	,		4964	0.1855		0.159	False		,,,				2504	0.0573					.											0									MET/VAL,MET/VAL	73,2621		0,73,1274	2	3	2		217,217	2.9	1	9	dbSNP_132	2	697,5609		29,639,2485	no	missense,missense	EPB41L4B	NM_018424.2,NM_019114.3	21,21	29,712,3759	TT,TC,CC		11.053,2.7097,8.5556	benign,benign	73/519,73/901	112082510	770,8230	1347	3153	4500	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.217G>A	9.37:g.112082510C>T	ENSP00000363694:p.Val73Met		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	304	0.1391941391941392	12	0.024390243902439025	31	0.0856353591160221	123	0.21503496503496503	138	0.1820580474934037	c	16.13	3.036368	0.54896	0.027097	0.11053	ENSG00000095203	ENST00000374566;ENST00000374557	D;D	0.84070	-1.77;-1.8	2.94	2.94	0.34122	.	.	.	.	.	T	0.00178	0.0005	N	0.24115	0.695	0.27693	P	0.9460421	D;D	0.89917	1.0;0.999	D;D	0.66847	0.947;0.92	T	0.07597	-1.0764	8	0.35671	T	0.21	.	10.0702	0.42328	0.0:1.0:0.0:0.0	.	73;73	Q9H329-2;Q9H329	.;E41LB_HUMAN	M	73	ENSP00000363694:V73M;ENSP00000363685:V73M	ENSP00000363685:V73M	V	-	1	0	EPB41L4B	111122331	0.998000	0.40836	0.998000	0.56505	0.000000	0.00434	1.975000	0.40569	1.467000	0.48044	0.000000	0.15137	GTG		0.796	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		T	112082510	C	T	112082510	3	4	65	1	0	0	0	0	1	0	0	0	5156	536	19	1	2741	1	EPB41L4B	9	112082510	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	110042695	112082510	29130921	26	6304											
UCN3	114131	broad.mit.edu	37	chr10	5415962	5415962	+	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	aggggtggagccagaggcacCcggtacagatacgtgtccca	10	5	15	11	2	0	2	0	0	0	2	1	3	1	3	3	5	3	2	3	5	2	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr10:5415962C>T	ENST00000380433.3	+	2	507	c.279C>T	c.(277-279)acC>acT	p.T93T		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	93					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						CCAGAGGCACCCGGTACAGAT	0.627																																						.											0													57	57	57					10																	5415962		2201	4299	6500	SO:0001819	synonymous_variant	114131			AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"Endogenous ligands"	17781	protein-coding gene	gene with protein product	"stresscopin", "prepro-urocortin 3"	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.279C>T	10.37:g.5415962C>T			Q496H2|Q5SR91	Silent	SNP	ENST00000380433.3	37	CCDS7065.1																																																																																				0.627	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		T	5415962	C	T	5415962	2	4	65	1	0	0	0	0	0	0	0	1	16926	610	22	3		3	UCN3	10	5415962	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		5415962	130118785	27	6305											
SLK	9748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr10	105727558	105727558	+	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	tggggagcgagaagaagaagAagcagtacgaacacgtgaag	17	3	16	5	3	0	5	0	1	0	4	0	8	0	6	0	2	4	2	0	2	7	1	rs137997569		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr10:105727558A>C	ENST00000369755.3	+	1	600	c.55A>C	c.(55-57)Aag>Cag	p.K19Q	SLK_ENST00000335753.4_Missense_Mutation_p.K19Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGAAGAAGAAGCAGTACGA	0.458													A|||	1	0.000199681	0	0.0014	5008	,	,		14767	0		0	False		,,,				2504	0				NSCLC(111;540 1651 1927 4474 17706)	.											0								A	GLN/LYS	1,4405	2.1+/-5.4	0,1,2202	129	137	134		55	4.6	1	10	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLK	NM_014720.2	53	0,3,6500	CC,CA,AA		0.0233,0.0227,0.0231	probably-damaging	19/1236	105727558	3,13003	2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.55A>C	10.37:g.105727558A>C	ENSP00000358770:p.Lys19Gln		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	31	5.085324	0.94100	2.27E-4	2.33E-4	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.71222	-0.55;-0.55	4.57	4.57	0.56435	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	D	0.84148	0.0421	10	0.72032	D	0.01	.	13.9341	0.64015	1.0:0.0:0.0:0.0	.	19;19	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	19	ENSP00000336824:K19Q;ENSP00000358770:K19Q	ENSP00000336824:K19Q	K	+	1	0	SLK	105717548	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.916000	0.92745	1.690000	0.51089	0.260000	0.18958	AAG		0.458	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		C	105727558	A	C	105727558	3	2	65	1	0	0	0	0	1	0	0	0	14748	247	9	5	57	5	SLK	10	105727558	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	100311596	105727558	29807189	28	6306											
KNDC1	85442	ucsc.edu	37	chr10	135020674	135020674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctggggcctggagcccTgcaccctcccagtgatcgtg	6	7	13	15	2	0	1	0	1	0	0	2	2	1	2	4	3	3	2	4	3	1	0			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr10:135020674T>C	ENST00000304613.3	+	20	3634	c.3613T>C	c.(3613-3615)Tgc>Cgc	p.C1205R	KNDC1_ENST00000368571.2_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.C1207R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1205					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)		CCTGGAGCCCTGCACCCTCCC	0.662																																						.											0													27	25	26					10																	135020674		2194	4296	6490	SO:0001583	missense	85442			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.3613T>C	10.37:g.135020674T>C	ENSP00000304437:p.Cys1205Arg		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315195	0.23908	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.12039	2.72;2.72	3.63	0.808	0.18719	.	0.277674	0.29321	U	0.012493	T	0.11793	0.0287	L	0.57536	1.79	0.45005	D	0.998027	D	0.54601	0.967	P	0.46026	0.501	T	0.32851	-0.9891	10	0.23302	T	0.38	-17.9744	0.8433	0.01155	0.2313:0.1132:0.178:0.4774	.	1205	Q76NI1	VKIND_HUMAN	R	1205;1207	ENSP00000304437:C1205R;ENSP00000357561:C1207R	ENSP00000304437:C1205R	C	+	1	0	KNDC1	134870664	0.783000	0.28701	0.988000	0.46212	0.474000	0.32979	1.015000	0.29963	0.039000	0.15632	0.353000	0.21931	TGC		0.662	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		C	135020674	T	C	135020674	3	2	65	1	0	0	0	0	1	0	0	0	8426	1580	55	2	3691	2	KNDC1	10	135020674	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	29293116	135020674	514073	29	6307											
MUC6	4588	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr11	1017180	1017180	+	Missense_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	tcggtggaggaatggtgcctGttggcattgagtggatggag	7	11	19	4	1	0	1	0	1	0	0	1	5	0	5	1	7	1	2	1	7	1	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:1017180G>A	ENST00000421673.2	-	31	5671	c.5621C>T	c.(5620-5622)aCa>aTa	p.T1874I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1874	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)		AATGGTGCCTGTTGGCATTGA	0.582																																						.											0													502	480	488					11																	1017180		2202	4286	6488	SO:0001583	missense	4588			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.5621C>T	11.37:g.1017180G>A	ENSP00000406861:p.Thr1874Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.623016	0.28889	.	.	ENSG00000184956	ENST00000421673	T	0.22539	1.95	3.05	1.02	0.19986	.	.	.	.	.	T	0.28928	0.0718	L	0.39898	1.24	0.09310	N	1	P	0.44478	0.836	P	0.58391	0.838	T	0.13019	-1.0525	9	0.51188	T	0.08	.	6.6132	0.22763	0.1151:0.1811:0.7038:0.0	.	1874	Q6W4X9	MUC6_HUMAN	I	1874	ENSP00000406861:T1874I	ENSP00000406861:T1874I	T	-	2	0	MUC6	1007180	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.013000	0.12678	0.118000	0.18165	-0.671000	0.03813	ACA		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017180	G	A	1017180	3	1	65	1	0	0	0	0	1	0	0	0	9980	1377	48	4	1710	4	MUC6	11	1017180	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		1017180	133989336	30	6308											
MUC5B	727897	broad.mit.edu	37	chr11	1270045	1270045	+	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	tccccccagtgctgaccaccAccgccaccacacctgcagcc	8	4	6	23	1	0	1	0	1	0	0	1	1	1	1	10	0	3	2	10	0	0	0			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:1270045A>C	ENST00000529681.1	+	31	11993	c.11935A>C	c.(11935-11937)Acc>Ccc	p.T3979P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3982P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3979	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)		gctgaccaccaccgccaccac	0.642																																						.											0													19	27	24					11																	1270045		1254	2834	4088	SO:0001583	missense	727897			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.11935A>C	11.37:g.1270045A>C	ENSP00000436812:p.Thr3979Pro		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	8.902	0.956543	0.18507	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20332	2.08;2.27	2.84	-0.148	0.13424	.	.	.	.	.	T	0.28034	0.0691	L	0.46157	1.445	0.09310	N	1	D	0.65815	0.995	P	0.56278	0.795	T	0.13602	-1.0503	9	0.87932	D	0	.	6.7891	0.23689	0.809:0.0:0.191:0.0	.	3982	E9PBJ0	.	P	3979;3982;3923	ENSP00000436812:T3979P;ENSP00000415793:T3982P	ENSP00000343037:T3923P	T	+	1	0	MUC5B	1226621	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	-5.417000	0.00124	0.078000	0.16900	0.248000	0.18094	ACC		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1270045	A	C	1270045	3	2	65	1	0	0	0	0	1	0	0	0	9979	159	6	5	12066	5	MUC5B	11	1270045	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	252865	1270045	133736471	31	6309											
KRTAP5-4	387267	mdanderson.org	37	chr11	1643255	1643255	+	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	cccccacagccagagccacaGcccccacagccggagccaca	11	0	8	22	1	0	1	0	0	0	1	0	2	0	2	8	1	5	0	8	1	0	0			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:1643255G>A	ENST00000399682.1	-	1	113	c.69C>T	c.(67-69)ggC>ggT	p.G23G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.G23G(1)		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)		cagagccacagcccccacagc	0.687																																						.											1	Substitution - coding silent(1)	kidney(1)											4	8	7					11																	1643255		646	1526	2172	SO:0001819	synonymous_variant	387267			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.69C>T	11.37:g.1643255G>A				Silent	SNP	ENST00000399682.1	37																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643255	G	A	1643255	2	1	65	1	0	0	0	0	0	0	0	1	8563	958	34	4		4	KRTAP5-4	11	1643255	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10	373210	1643255	133363261	32	6310											
ZDHHC13	54503	bcgsc.ca	37	chr11	19174169	19174169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattattcatatgctaaaaAcagaagccaaaatgagagcc	18	9	6	8	0	2	2	2	1	0	2	2	3	2	2	2	0	4	1	2	0	8	4			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:19174169A>G	ENST00000446113.2	+	8	932	c.811A>G	c.(811-813)Aca>Gca	p.T271A	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Missense_Mutation_p.T141A	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	271					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						TATGCTAAAAACAGAAGCCAA	0.363																																						.											0													60	58	58					11																	19174169		1802	4056	5858	SO:0001583	missense	54503			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.811A>G	11.37:g.19174169A>G	ENSP00000400113:p.Thr271Ala		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	A	9.311	1.055651	0.19907	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.64085	-0.08;-0.08	5.51	3.18	0.36537	Ankyrin repeat-containing domain (3);	1.062360	0.07154	N	0.849542	T	0.36635	0.0974	N	0.05230	-0.09	0.23210	N	0.998117	B	0.02656	0.0	B	0.04013	0.001	T	0.28996	-1.0026	10	0.10902	T	0.67	-4.7782	5.7177	0.17970	0.673:0.0:0.327:0.0	.	271	Q8IUH4	ZDH13_HUMAN	A	271;141	ENSP00000400113:T271A;ENSP00000382288:T141A	ENSP00000382288:T141A	T	+	1	0	ZDHHC13	19130745	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	0.106000	0.15354	0.945000	0.37605	0.472000	0.43445	ACA		0.363	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		G	19174169	A	G	19174169	3	3	65	1	0	0	0	0	1	0	0	0	17600	43	2	2	841	2	ZDHHC13	11	19174169	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	17530914	19174169	115832347	33	6311											
OR1S2	219958	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	57970779	57970779	+	Missense_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	tcatcatgggtgtcaccacaGtgaataggacagcaccaatc	13	8	9	11	0	3	1	3	1	0	0	4	2	3	2	2	2	1	1	2	2	3	1			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:57970779G>A	ENST00000302592.6	-	1	874	c.875C>T	c.(874-876)aCt>aTt	p.T292I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTCACCACAGTGAATAGGAC	0.448																																						.											0													152	142	145					11																	57970779		2201	4296	6497	SO:0001583	missense	219958			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.875C>T	11.37:g.57970779G>A	ENSP00000305469:p.Thr292Ile		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457628	0.43634	.	.	ENSG00000197887	ENST00000302592	T	0.00241	8.46	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.129483	0.35207	N	0.003376	T	0.00468	0.0015	M	0.90198	3.095	0.31600	N	0.652805	P	0.44044	0.825	P	0.46299	0.511	T	0.21759	-1.0236	10	0.72032	D	0.01	.	16.8288	0.85938	0.0:0.0:1.0:0.0	.	292	Q8NGQ3	OR1S2_HUMAN	I	292	ENSP00000305469:T292I	ENSP00000305469:T292I	T	-	2	0	OR1S2	57727355	0.120000	0.22244	0.998000	0.56505	0.443000	0.32047	2.643000	0.46604	2.622000	0.88805	0.655000	0.94253	ACT		0.448	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57970779	G	A	57970779	3	1	65	1	0	0	0	0	1	0	0	0	10973	1029	36	4	105	4	OR1S2	11	57970779	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	38796610	57970779	77035737	34	6312											
MAML2	84441	mdanderson.org	37	chr11	95825407	95825407	+	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	tgctgctgctgctgctgctgCtgctgctgttgctgctgttg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2	rs61901862		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:95825407C>T	ENST00000524717.1	-	2	3072	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	596					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.Q596Q(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)				gctgctgctgctgctgctgtt	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	kidney(1)											28	35	33					11																	95825407		2119	4148	6267	SO:0001819	synonymous_variant	84441			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.1788G>A	11.37:g.95825407C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825407	C	T	95825407	2	4	65	1	0	0	0	0	0	0	0	1	9206	796	28	4		4	MAML2	11	95825407	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10	37854628	95825407	39181109	35	6313											
TMPRSS13	84000	mdanderson.org	37	chr11	117789302	117789302	+	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	ctggaaagtgatgccagagcCggagatgcccgggctggaga	10	5	17	9	2	0	4	0	1	0	3	0	7	0	5	3	4	3	1	3	4	1	0			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:117789302C>T	ENST00000430170.2	-	2	360	c.273G>A	c.(271-273)ccG>ccA	p.P91P	TMPRSS13_ENST00000524993.1_Silent_p.P91P|TMPRSS13_ENST00000445164.2_Silent_p.P91P|TMPRSS13_ENST00000526090.1_Silent_p.P91P|TMPRSS13_ENST00000528626.1_Silent_p.P91P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	91	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					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)		ATGCCAGAGCCGGAGATGCCC	0.627																																						.											0													59	69	65					11																	117789302		2036	4169	6205	SO:0001819	synonymous_variant	84000			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.273G>A	11.37:g.117789302C>T			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																				0.627	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		T	117789302	C	T	117789302	2	4	65	1	0	0	0	0	0	0	0	1	16242	639	23	1		1	TMPRSS13	11	117789302	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10	21963895	117789302	17217214	36	6314											
ROBO3	64221	mdanderson.org	37	chr11	124750455	124750455	+	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	ccctggccggagccggagtcGgagtcagagccggagccaga	8	3	17	13	4	1	2	1	0	0	2	2	6	1	6	5	5	3	0	5	5	0	0	rs200255001|rs199686375		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:124750455G>A	ENST00000397801.1	+	27	4292	c.4100G>A	c.(4099-4101)cGg>cAg	p.R1367Q	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.R1345Q|ROBO3_ENST00000543966.1_Missense_Mutation_p.R130Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.R1367Q(1)		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)		agccggagtcggagtcagagc	0.657													-|||	1	0.000199681	0	0	5008	,	,		15316	0		0	False		,,,				2504	0.001					.											1	Substitution - Missense(1)	central_nervous_system(1)											14	22	19					11																	124750455		2003	4113	6116	SO:0001583	missense	64221			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.4100G>A	11.37:g.124750455G>A	ENSP00000380903:p.Arg1367Gln			Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	-	9.957	1.221827	0.22457	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.63744	-0.06;-0.05;0.9	.	.	.	.	2.111980	0.03039	N	0.153117	T	0.44414	0.1292	N	0.22421	0.69	0.25439	N	0.98812	B	0.11235	0.004	B	0.01281	0.0	T	0.13548	-1.0505	9	0.26408	T	0.33	.	3.585	0.07967	0.0:0.5:0.5:0.0	.	1367	Q96MS0	ROBO3_HUMAN	Q	1367;1345;130	ENSP00000380903:R1367Q;ENSP00000441797:R1345Q;ENSP00000438799:R130Q	ENSP00000380903:R1367Q	R	+	2	0	ROBO3	124255665	0.941000	0.31946	0.996000	0.52242	0.523000	0.34469	-0.157000	0.10085	-0.000000	0.14550	0.000000	0.15137	CGG		0.657	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		A	124750455	G	A	124750455	3	1	65	1	0	0	0	0	1	0	0	0	13515	1116	39	1	4206	1	ROBO3	11	124750455	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	6961153	124750455	10256061	37	6315											
ARHGAP32	9743	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr11	128840231	128840231	+	Missense_Mutation	SNP	T	T	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	ggtacagaggtcttgggcagTaggctggctcatcatctggg	7	10	16	8	0	4	1	2	0	2	1	4	1	4	1	0	6	1	5	0	6	2	3			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr11:128840231T>C	ENST00000310343.9	-	22	4834	c.4835A>G	c.(4834-4836)tAc>tGc	p.Y1612C	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Y1263C|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Y1263C	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1612	Interaction with GAB2.				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						TCTTGGGCAGTAGGCTGGCTC	0.532																																						.											0													89	82	84					11																	128840231		2201	4297	6498	SO:0001583	missense	9743			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.4835A>G	11.37:g.128840231T>C	ENSP00000310561:p.Tyr1612Cys		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779073	0.49891	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.14144	2.55;2.53;2.53	5.66	4.47	0.54385	.	0.256463	0.39759	N	0.001266	T	0.24314	0.0589	M	0.62723	1.935	0.34814	D	0.738056	D	0.63880	0.993	P	0.53185	0.72	T	0.34650	-0.9820	10	0.72032	D	0.01	.	10.8803	0.46935	0.2372:0.0:0.0:0.7628	.	1612	A7KAX9	RHG32_HUMAN	C	1612;1263;1263	ENSP00000310561:Y1612C;ENSP00000376425:Y1263C;ENSP00000432862:Y1263C	ENSP00000310561:Y1612C	Y	-	2	0	ARHGAP32	128345441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.416000	0.44644	2.156000	0.67533	0.533000	0.62120	TAC		0.532	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		C	128840231	T	C	128840231	3	2	65	1	0	0	0	0	1	0	0	0	881	1638	57	2	1432	2	ARHGAP32	11	128840231	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	4089776	128840231	6166285	38	6316											
CLECL1	160365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr12	9885606	9885606	+	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	cgaacagttttgatgtcagcGtagactacatctccagccat	11	11	8	11	2	2	2	1	1	1	1	3	3	2	2	2	0	4	2	2	0	3	4			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr12:9885606G>A	ENST00000327839.3	-	1	289	c.255C>T	c.(253-255)taC>taT	p.Y85Y		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGATGTCAGCGTAGACTACAT	0.428																																						.											0													81	83	82					12																	9885606		2203	4300	6503	SO:0001819	synonymous_variant	160365			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"dendritic cell associated lectin 1"	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.255C>T	12.37:g.9885606G>A				Silent	SNP	ENST00000327839.3	37	CCDS8603.1	.	.	.	.	.	.	.	.	.	.	G	3.107	-0.183527	0.06340	.	.	ENSG00000184293	ENST00000542530	.	.	.	1.99	0.826	0.18829	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.23150	N	0.99822	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	3.7836	0.08690	0.8053:0.0:0.1947:0.0	.	.	.	.	M	37	.	.	T	-	2	0	CLECL1	9776873	0.623000	0.27094	0.135000	0.22099	0.139000	0.21198	0.228000	0.17814	0.226000	0.20979	-0.255000	0.11280	ACG		0.428	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		A	9885606	G	A	9885606	2	1	65	1	0	0	0	0	0	0	0	1	3523	1140	40	1		1	CLECL1	12	9885606	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10		9885606	123966289	39	6317											
FMNL3	91010	broad.mit.edu	37	chr12	50045190	50045190	+	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	aggcccactgtcaacaccacAgagggtgcagcaccagggag	12	3	13	13	0	1	1	1	0	0	1	1	2	1	2	3	3	3	2	3	3	1	0			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr12:50045190A>T	ENST00000293590.5	-	15	1880	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	FMNL3_ENST00000550488.1_Silent_p.S549S|FMNL3_ENST00000335154.5_Silent_p.S549S|FMNL3_ENST00000352151.5_Silent_p.S498S			Q8IVF7	FMNL3_HUMAN	formin-like 3	549					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAACACCACAGAGGGTGCAG	0.607																																						.											0													28	31	30					12																	50045190		1957	4153	6110	SO:0001819	synonymous_variant	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1647T>A	12.37:g.50045190A>T			B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37																																																																																					0.607	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		T	50045190	A	T	50045190	2	4	65	1	0	0	0	0	0	0	0	1	5953	175	7	5		5	FMNL3	12	50045190	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10	40159584	50045190	83806705	40	6318											
PXN	5829	broad.mit.edu	37	chr12	120662127	120662127	+	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	ggtctcctccgacaagaacaCaggccgtttggagatgtggg	9	8	14	10	2	1	2	0	0	1	2	3	4	2	2	3	4	1	1	3	4	2	1	rs202176482		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr12:120662127C>A	ENST00000228307.7	-	2	208	c.67G>T	c.(67-69)Gtg>Ttg	p.V23L	PXN_ENST00000424649.2_Missense_Mutation_p.V23L|PXN_ENST00000267257.7_Missense_Mutation_p.V23L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.V21L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	23					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)					GACAAGAACACAGGCCGTTTG	0.622																																						.											0													56	64	61					12																	120662127		1999	4147	6146	SO:0001583	missense	5829			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.67G>T	12.37:g.120662127C>A	ENSP00000228307:p.Val23Leu		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379542	0.61845	.	.	ENSG00000089159	ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331	T;T;T;T;T	0.54866	0.57;0.55;0.61;0.55;0.62	5.44	4.55	0.56014	.	0.125619	0.52532	D	0.000069	T	0.32734	0.0839	N	0.11560	0.145	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.14023	0.007;0.01	T	0.11084	-1.0602	10	0.19147	T	0.46	-13.2736	14.4703	0.67512	0.0:0.9281:0.0:0.0719	.	23;23	P49023-2;P49023	.;PAXI_HUMAN	L	23;23;21;23;24	ENSP00000228307:V23L;ENSP00000391283:V23L;ENSP00000443887:V21L;ENSP00000267257:V23L;ENSP00000443745:V24L	ENSP00000228307:V23L	V	-	1	0	PXN	119146510	0.996000	0.38824	0.990000	0.47175	0.987000	0.75469	3.301000	0.51842	2.559000	0.86315	0.591000	0.81541	GTG		0.622	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		A	120662127	C	A	120662127	3	1	65	1	0	0	0	0	1	0	0	0	12852	478	17	5	1752	5	PXN	12	120662127	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	70616937	120662127	13189768	41	6319											
CAMKK2	10645	ucsc.edu	37	chr12	121678593	121678593	+	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	agcaactttccacgcagggaCtgcctctcacaagagcactt	11	8	8	14	1	1	1	1	0	1	1	3	2	2	2	2	1	4	3	2	1	2	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr12:121678593C>T	ENST00000324774.5	-	17	2504	c.1676G>A	c.(1675-1677)aGt>aAt	p.S559N	CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S559N|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S516N|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S559N|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_3'UTR|CAMKK2_ENST00000538733.1_3'UTR	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	559					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACGCAGGGACTGCCTCTCAC	0.677																																						.											0													26	31	29					12																	121678593		2203	4299	6502	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1676G>A	12.37:g.121678593C>T	ENSP00000312741:p.Ser559Asn		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376530	0.24857	.	.	ENSG00000110931	ENST00000347034;ENST00000324774;ENST00000404169	T;T;T	0.73363	-0.71;-0.74;-0.74	5.47	5.47	0.80525	.	.	.	.	.	T	0.58090	0.2098	N	0.22421	0.69	0.42015	D	0.990956	B;B	0.13594	0.008;0.005	B;B	0.13407	0.009;0.004	T	0.53606	-0.8415	9	0.27785	T	0.31	0.0303	8.3402	0.32239	0.0:0.8324:0.0:0.1676	.	516;559	Q96RR4-4;Q96RR4	.;KKCC2_HUMAN	N	516;559;559	ENSP00000321230:S516N;ENSP00000312741:S559N;ENSP00000384600:S559N	ENSP00000312741:S559N	S	-	2	0	CAMKK2	120162976	0.000000	0.05858	0.034000	0.17996	0.002000	0.02628	-0.015000	0.12634	2.748000	0.94277	0.655000	0.94253	AGT		0.677	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		T	121678593	C	T	121678593	3	4	65	1	0	0	0	0	1	0	0	0	2607	565	20	4	94	4	CAMKK2	12	121678593	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	1016466	121678593	12173302	42	6320											
HOMEZ	57594	mdanderson.org	37	chr14	23744823	23744823	+	Missense_Mutation	SNP	A	A	T																															tcatcatcatcatcatcatcAtcttcctcctcctcctcctc																								rs3208861	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr14:23744823A>T	ENST00000357460.5	-	2	1778	c.1614T>A	c.(1612-1614)gaT>gaA	p.D538E	HOMEZ_ENST00000431326.2_Missense_Mutation_p.D540E|HOMEZ_ENST00000561013.1_Missense_Mutation_p.D540E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	538	Poly-Asp.			D -> E (in Ref. 5; AAI30393). {ECO:0000305}.|Missing (in Ref. 3; BAG63992). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcatcatcttcctcct	0.473																																						.											0													38	39	38					14																	23744823		2191	4254	6445	SO:0001583	missense	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1614T>A	14.37:g.23744823A>T	ENSP00000350049:p.Asp538Glu		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.558686	0.00136	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.70631	-0.5;-0.5	.	.	.	Armadillo-like helical (1);	.	.	.	.	T	0.40522	0.1120	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33752	-0.9856	7	0.02654	T	1	.	.	.	.	rs3208861	540;538	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	E	538;540	ENSP00000350049:D538E;ENSP00000406579:D540E	ENSP00000350049:D538E	D	-	3	2	HOMEZ	22814663	0.164000	0.22935	0.167000	0.22817	0.037000	0.13140	-2.011000	0.01452	-1.137000	0.02888	-1.213000	0.01624	GAT		0.473	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744823	A	T	23744823	3	4	65	1	0	0	0	0	1	0	0	0	7281	214	8	5	42	5	HOMEZ	14	23744823	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10		23744823	83604717	43	6321	172	2									
HOMEZ	57594	mdanderson.org	37	chr14	23744826	23744826	+	Silent	SNP	T	T	C																															tcatcatcatcatcatcatcTtcctcctcctcctcctcctc																								rs35076736|rs76331664|rs67447855	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr14:23744826T>C	ENST00000357460.5	-	2	1775	c.1611A>G	c.(1609-1611)gaA>gaG	p.E537E	HOMEZ_ENST00000431326.2_Silent_p.E539E|HOMEZ_ENST00000561013.1_Silent_p.E539E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	537	Poly-Asp.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcatcttcctcctcct	0.483																																						.											0													39	39	39					14																	23744826		2192	4262	6454	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1611A>G	14.37:g.23744826T>C			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																				0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		C	23744826	T	C	23744826	2	2	65	1	0	0	0	0	0	0	0	1	7281	1606	56	2		2	HOMEZ	14	23744826	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	3	23744826	83604714	44	6322	172	2									
MAGEL2	54551	hgsc.bcm.edu	37	chr15	23890897	23890897	+	Missense_Mutation	SNP	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	cgatgcctgggcctgctgggGgggtagctggatttgcacgg	4	9	19	9	2	0	0	0	0	0	0	0	2	0	1	2	6	4	4	2	6	1	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:23890897G>T	ENST00000532292.1	-	1	278	c.184C>A	c.(184-186)Ccc>Acc	p.P62T		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					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)		GCCTGCTGGGGGGGTAGCTGG	0.701																																						.											0													6	8	7					15																	23890897		1843	4012	5855	SO:0001583	missense	54551			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.184C>A	15.37:g.23890897G>T	ENSP00000433433:p.Pro62Thr			Missense_Mutation	SNP	ENST00000532292.1	37																																																																																					0.701	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23890897	G	T	23890897	3	4	65	1	0	0	0	0	1	0	0	0	9189	1232	43	5	1760	5	MAGEL2	15	23890897	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		23890897	78640495	45	6323											
HERC2	8924	broad.mit.edu;mdanderson.org	37	chr15	28456246	28456246	+	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	cccgacctgctttcaggatgTatagcttcaactgctggcac	8	11	9	13	1	2	0	2	0	0	0	2	2	2	1	2	2	4	5	2	2	3	4			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:28456246T>A	ENST00000261609.7	-	44	7079	c.6971A>T	c.(6970-6972)tAc>tTc	p.Y2324F		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)		TTTCAGGATGTATAGCTTCAA	0.582																																						.											0													49	46	47					15																	28456246		2202	4298	6500	SO:0001583	missense	8924			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.6971A>T	15.37:g.28456246T>A	ENSP00000261609:p.Tyr2324Phe			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862647	0.51482	.	.	ENSG00000128731	ENST00000261609	T	0.37752	1.18	4.84	3.72	0.42706	.	0.068466	0.64402	D	0.000012	T	0.49236	0.1545	L	0.51422	1.61	0.58432	D	0.999996	P	0.52842	0.956	D	0.65010	0.931	T	0.44174	-0.9345	10	0.54805	T	0.06	.	10.4591	0.44567	0.0:0.0766:0.0:0.9234	.	2324	O95714	HERC2_HUMAN	F	2324	ENSP00000261609:Y2324F	ENSP00000261609:Y2324F	Y	-	2	0	HERC2	26129841	1.000000	0.71417	0.994000	0.49952	0.534000	0.34807	6.123000	0.71614	0.872000	0.35775	0.459000	0.35465	TAC		0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28456246	T	A	28456246	3	1	65	1	0	0	0	0	1	0	0	0	7058	1638	57	5	7733	5	HERC2	15	28456246	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	4565349	28456246	74075146	46	6324											
ZFYVE19	84936	mdanderson.org	37	chr15	41099910	41099910	+	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	gtgggcgtgtggggcggggcAgggcagggaagggaagggcg	6	3	27	5	3	0	0	0	0	0	0	0	2	0	2	0	9	0	2	0	9	2	0	rs62018606		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:41099910A>G	ENST00000355341.4	+	1	624	c.123A>G	c.(121-123)gcA>gcG	p.A41A	ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.A41A|ZFYVE19_ENST00000570108.1_Intron|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000563530.1_3'UTR	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	41					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)		Ggggcggggcagggcagggaa	0.716																																						.											0													16	22	20					15																	41099910		1992	4147	6139	SO:0001819	synonymous_variant	84936			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.123A>G	15.37:g.41099910A>G			B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	CCDS42025.1																																																																																				0.716	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		G	41099910	A	G	41099910	2	3	65	1	0	0	0	0	0	0	0	1	17662	175	7	2		2	ZFYVE19	15	41099910	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10	12643664	41099910	61431482	47	6325											
C15orf59	388135	hgsc.bcm.edu;mdanderson.org	37	chr15	74032954	74032954	+	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	tccagttcaaagtcgaagtcCgaggttagcttatcgatctg	10	12	10	9	3	2	0	1	0	1	0	6	3	4	0	2	1	1	3	2	1	4	3	rs144044826		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:74032954C>T	ENST00000569673.1	-	3	1390	c.186G>A	c.(184-186)tcG>tcA	p.S62S	C15orf59_ENST00000379822.4_Silent_p.S62S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	62										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTCGAAGTCCGAGGTTAGCT	0.612																																						.											0								C		0,4396		0,0,2198	149	153	152		186	-9.7	0.9	15	dbSNP_134	152	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C15orf59	NM_001039614.1		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		62/294	74032954	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	388135				CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.186G>A	15.37:g.74032954C>T				Silent	SNP	ENST00000569673.1	37	CCDS32289.1																																																																																				0.612	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		T	74032954	C	T	74032954	2	4	65	1	0	0	0	0	0	0	0	1	1807	639	23	1		1	C15orf59	15	74032954	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10	32933044	74032954	28498438	48	6326											
ADAMTS7	11173	mdanderson.org	37	chr15	79057989	79057989	+	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	ccagcccacaccacttgcctCgctccagtttcccgcttgcc	5	9	6	21	2	0	0	0	0	0	0	3	0	2	0	7	0	3	3	7	0	0	3	rs200769684		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:79057989C>T	ENST00000388820.4	-	19	4474	c.4264G>A	c.(4264-4266)Gag>Aag	p.E1422K	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1422	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1422K(3)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACTTGCCTCGCTCCAGTTT	0.657																																						.											3	Substitution - Missense(3)	skin(2)|NS(1)											31	34	33					15																	79057989		2188	4275	6463	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4264G>A	15.37:g.79057989C>T	ENSP00000373472:p.Glu1422Lys		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	8.994	0.978370	0.18812	.	.	ENSG00000136378	ENST00000388820	T	0.54279	0.58	4.21	-8.41	0.00961	.	0.609972	0.15843	N	0.241932	T	0.35248	0.0925	L	0.51914	1.62	0.19775	N	0.999954	B	0.14012	0.009	B	0.10450	0.005	T	0.45483	-0.9258	10	0.07325	T	0.83	.	13.64	0.62243	0.0:0.6736:0.1359:0.1905	.	1422	Q9UKP4	ATS7_HUMAN	K	1422	ENSP00000373472:E1422K	ENSP00000373472:E1422K	E	-	1	0	ADAMTS7	76845044	0.010000	0.17322	0.706000	0.30403	0.289000	0.27227	-0.206000	0.09398	-1.547000	0.01715	-2.551000	0.00177	GAG		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79057989	C	T	79057989	3	4	65	1	0	0	0	0	1	0	0	0	271	893	31	1	820	1	ADAMTS7	15	79057989	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	5025035	79057989	23473403	49	6327											
ANPEP	290	bcgsc.ca	37	chr15	90349234	90349234	+	Missense_Mutation	SNP	T	T	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	cctccatgtactcgctgcggTagaagcccgccaggtcatct	7	9	10	15	3	2	1	1	0	1	1	4	1	3	1	4	2	3	3	4	2	3	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr15:90349234T>C	ENST00000300060.6	-	2	894	c.581A>G	c.(580-582)tAc>tGc	p.Y194C		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	194	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)	CTCGCTGCGGTAGAAGCCCGC	0.612																																					NSCLC(30;827 977 2459 19669 26125)	.											0													88	82	84					15																	90349234		2200	4299	6499	SO:0001583	missense	290			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.581A>G	15.37:g.90349234T>C	ENSP00000300060:p.Tyr194Cys		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257356	0.80246	.	.	ENSG00000166825	ENST00000300060	T	0.07114	3.22	4.8	4.8	0.61643	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	H	0.98965	4.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.66085	-0.6011	10	0.87932	D	0	.	12.3003	0.54870	0.0:0.0:0.0:1.0	.	194	P15144	AMPN_HUMAN	C	194	ENSP00000300060:Y194C	ENSP00000300060:Y194C	Y	-	2	0	ANPEP	88150238	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.099000	0.71466	1.794000	0.52575	0.460000	0.39030	TAC		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90349234	T	C	90349234	3	2	65	1	0	0	0	0	1	0	0	0	710	1638	57	2	2402	2	ANPEP	15	90349234	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	11291245	90349234	12182158	50	6328											
ZNF319	57567	broad.mit.edu;hgsc.bcm.edu	37	chr16	58030679	58030679	+	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	tgccgctgcaggtctgacgcGtacttgaagcgtttctcgca	6	11	12	12	5	2	2	0	2	2	0	3	2	2	2	1	1	4	5	1	1	2	3	rs372922346		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr16:58030679G>A	ENST00000299237.2	-	2	2113	c.1491C>T	c.(1489-1491)taC>taT	p.Y497Y	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	497					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						GGTCTGACGCGTACTTGAAGC	0.617																																						.											0								G		0,4396		0,0,2198	53	45	48		1491	-6.4	0	16		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF319	NM_020807.1		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		497/583	58030679	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	57567			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.1491C>T	16.37:g.58030679G>A			Q52LH8	Silent	SNP	ENST00000299237.2	37	CCDS32462.1																																																																																				0.617	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			A	58030679	G	A	58030679	2	1	65	1	0	0	0	0	0	0	0	1	17834	1140	40	1		1	ZNF319	16	58030679	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10		58030679	32324074	51	6329											
FHOD1	29109	bcgsc.ca	37	chr16	67273272	67273272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcttcatagaagcccTccagcatctcccgctgctct	7	12	6	16	1	4	2	1	1	3	1	7	2	5	2	3	0	3	3	3	0	2	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr16:67273272T>C	ENST00000258201.4	-	2	534	c.287A>G	c.(286-288)gAg>gGg	p.E96G		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	96	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATAGAAGCCCTCCAGCATCTC	0.582																																						.											0													91	78	83					16																	67273272		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.287A>G	16.37:g.67273272T>C	ENSP00000258201:p.Glu96Gly		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925603	0.73213	.	.	ENSG00000135723	ENST00000258201	T	0.25414	1.8	5.0	5.0	0.66597	GTPase-binding/formin homology 3 (1);	0.057492	0.64402	D	0.000002	T	0.34629	0.0904	L	0.47190	1.495	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.10965	-1.0607	10	0.87932	D	0	.	12.5809	0.56390	0.0:0.0:0.0:1.0	.	96	Q9Y613	FHOD1_HUMAN	G	96	ENSP00000258201:E96G	ENSP00000258201:E96G	E	-	2	0	FHOD1	65830773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.945000	0.75947	2.105000	0.64084	0.533000	0.62120	GAG		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			C	67273272	T	C	67273272	3	2	65	1	0	0	0	0	1	0	0	0	5882	1551	54	2	3291	2	FHOD1	16	67273272	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	9242593	67273272	23081481	52	6330											
FA2H	79152	mdanderson.org	37	chr16	74808425	74808425	+	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	tcccacgtagtactgctccaGccagcggcgcgcgttggccg	5	7	13	16	6	0	0	0	0	0	0	2	0	2	0	4	2	4	4	4	2	2	3	rs929881	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr16:74808425G>A	ENST00000219368.3	-	1	298	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	FA2H_ENST00000544337.1_5'UTR	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	77	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TACTGCTCCAGCCAGCGGCGC	0.761													A|||	1247	0.249002	0.447	0.2046	5008	,	,		11282	0.0377		0.3151	False		,,,				2504	0.1626					.											0								A		1423,2211		327,769,721	5	6	5		229	2.9	1	16	dbSNP_86	5	2074,5176		390,1294,1941	no	coding-synonymous	FA2H	NM_024306.4		717,2063,2662	AA,AG,GG		28.6069,39.158,32.1297		77/373	74808425	3497,7387	1817	3625	5442	SO:0001819	synonymous_variant	79152			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.229C>T	16.37:g.74808425G>A			B7Z8T6|O75213|Q96DK1|Q9H1A5	Silent	SNP	ENST00000219368.3	37	CCDS10911.1																																																																																				0.761	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		A	74808425	G	A	74808425	2	1	65	1	0	0	0	0	0	0	0	1	5352	962	34	4		4	FA2H	16	74808425	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10	7535153	74808425	15546328	53	6331											
ACSF3	197322	mdanderson.org	37	chr16	89167138	89167138	+	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	ggcgcctgggctgcgccttgGcgtcctgccggctggcgcct	0	8	17	16	5	0	0	0	0	0	0	1	0	1	0	5	5	2	2	5	5	0	1	rs11547019	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr16:89167138G>C	ENST00000317447.4	+	3	426	c.49G>C	c.(49-51)Gcg>Ccg	p.A17P	ACSF3_ENST00000406948.3_Missense_Mutation_p.A17P|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	17			A -> P (in dbSNP:rs11547019). {ECO:0000269|PubMed:15489334}.		fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTGCGCCTTGGCGTCCTGCCG	0.682													G|||	282	0.0563099	0.0015	0.0317	5008	,	,		14874	0.1597		0.0577	False		,,,				2504	0.0399					.											0								G	PRO/ALA,PRO/ALA	30,4298		0,30,2134	16	18	17		49,49	0.4	0	16	dbSNP_120	17	334,8134		7,320,3907	yes	missense,missense	ACSF3	NM_001127214.2,NM_174917.3	27,27	7,350,6041	CC,CG,GG		3.9443,0.6932,2.8446	benign,benign	17/577,17/577	89167138	364,12432	2164	4234	6398	SO:0001583	missense	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.49G>C	16.37:g.89167138G>C	ENSP00000320646:p.Ala17Pro		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	CCDS10974.1	150	0.06868131868131869	0	0.0	5	0.013812154696132596	96	0.16783216783216784	49	0.06464379947229551	G	12.21	1.870413	0.33069	0.006932	0.039443	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.57595	0.81;0.39;0.81	5.02	0.452	0.16634	.	1.418140	0.04327	N	0.351700	T	0.00144	0.0004	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.04427	-1.0952	10	0.35671	T	0.21	-22.3275	2.9079	0.05727	0.0869:0.3051:0.3296:0.2784	rs11547019	17	Q4G176	ACSF3_HUMAN	P	17	ENSP00000320646:A17P;ENSP00000440734:A17P;ENSP00000384627:A17P	ENSP00000320646:A17P	A	+	1	0	ACSF3	87694639	0.000000	0.05858	0.009000	0.14445	0.070000	0.16714	-0.170000	0.09897	0.149000	0.19098	0.650000	0.86243	GCG		0.682	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		C	89167138	G	C	89167138	3	2	65	1	0	0	0	0	1	0	0	0	176	1203	42	5	51	5	ACSF3	16	89167138	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	14358713	89167138	1187615	54	6332											
USP6	9098	ucsc.edu;mdanderson.org	37	chr17	5037195	5037195	+	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	cctacagatcatgaaggagaGgggcaagaggtcatctgaac	14	6	13	8	0	3	5	2	2	1	3	3	6	3	5	1	4	2	1	1	4	4	1	rs74900103		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr17:5037195G>A	ENST00000574788.1	+	15	2628	c.398G>A	c.(397-399)aGg>aAg	p.R133K	USP6_ENST00000250066.6_Missense_Mutation_p.R133K|USP6_ENST00000332776.4_Missense_Mutation_p.R133K|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	133	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						ATGAAGGAGAGGGGCAAGAGG	0.547			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													185	166	173					17																	5037195		2203	4300	6503	SO:0001583	missense	9098			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.398G>A	17.37:g.5037195G>A	ENSP00000460380:p.Arg133Lys		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.168985	0.01660	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.26373	1.74;1.74	0.862	-1.72	0.08107	Rab-GAP/TBC domain (4);	0.104487	0.64402	N	0.000003	T	0.05135	0.0137	N	0.01576	-0.805	0.34807	D	0.737346	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40459	-0.9562	10	0.05351	T	0.99	.	2.1908	0.03898	0.3285:0.3345:0.337:0.0	.	133;133	B9A6N0;P35125	.;UBP6_HUMAN	K	133	ENSP00000328010:R133K;ENSP00000250066:R133K	ENSP00000250066:R133K	R	+	2	0	USP6	4977919	0.068000	0.21057	0.092000	0.20876	0.093000	0.18481	0.731000	0.26058	-1.381000	0.02112	-1.368000	0.01194	AGG		0.547	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5037195	G	A	5037195	3	1	65	1	0	0	0	0	1	0	0	0	17083	1000	35	4	420	4	USP6	17	5037195	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		5037195	76158015	55	6333											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr17	7578208	7578208	+	Missense_Mutation	SNP	T	T	A																															catagggcaccaccacactaTgtcgaaaagtgtttctgtca																										TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr17:7578208T>A	ENST00000269305.4	-	6	830	c.641A>T	c.(640-642)cAt>cTt	p.H214L	TP53_ENST00000420246.2_Missense_Mutation_p.H214L|TP53_ENST00000445888.2_Missense_Mutation_p.H214L|TP53_ENST00000455263.2_Missense_Mutation_p.H214L|TP53_ENST00000413465.2_Missense_Mutation_p.H214L|TP53_ENST00000359597.4_Missense_Mutation_p.H214L|TP53_ENST00000574684.1_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	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	CACCACACTATGTCGAAAAGT	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(1)											127	114	119					17																	7578208		2203	4300	6503	SO:0001583	missense	7157	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;	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.641A>T	17.37:g.7578208T>A	ENSP00000269305:p.His214Leu		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	.	.	.	.	.	.	.	.	.	.	T	37	6.001408	0.97189	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99518	0.9828	L	0.45228	1.405	0.80722	D	1	D;D;B;D;D;D;D	0.89917	1.0;0.996;0.176;0.999;0.997;0.997;0.999	D;D;B;D;D;D;D	0.79108	0.992;0.981;0.088;0.99;0.982;0.989;0.98	D	0.97889	1.0296	10	0.87932	D	0	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214L;ENSP00000352610:H214L;ENSP00000269305:H214L;ENSP00000398846:H214L;ENSP00000391127:H214L;ENSP00000391478:H214L;ENSP00000425104:H82L;ENSP00000423862:H121L	ENSP00000269305:H214L	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578208	T	A	7578208	3	1	65	1	0	0	0	0	1	0	0	0	16378	1464	51	5	653	5	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	2541013	7578208	73617002	56	6334	173	2									
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A																															gggcaccaccacactatgtcGaaaagtgtttctgtcatcca																								rs397516436		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	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;	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578212	G	A	7578212	4	1	65	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	4	7578212	73616998	57	6335	173	2									
MYO15A	51168	ucsc.edu	37	chr17	18057479	18057479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctacagccatcctgTgcagcttgacctcctgttcc	7	10	9	15	0	0	1	0	1	0	0	3	2	3	2	5	1	5	4	5	1	1	3			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr17:18057479T>C	ENST00000205890.5	+	44	8461	c.8123T>C	c.(8122-8124)gTg>gCg	p.V2708A	MYO15A_ENST00000418233.3_5'UTR|MYO15A_ENST00000585180.1_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2708	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCCATCCTGTGCAGCTTGAC	0.612																																						.											0													70	81	78					17																	18057479		2074	4222	6296	SO:0001583	missense	51168			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.8123T>C	17.37:g.18057479T>C	ENSP00000205890:p.Val2708Ala		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753191	0.69648	.	.	ENSG00000091536	ENST00000205890	D	0.87966	-2.32	5.19	5.19	0.71726	.	.	.	.	.	D	0.83348	0.5235	M	0.65677	2.01	0.80722	D	1	P	0.43788	0.817	B	0.36959	0.237	T	0.82806	-0.0275	9	0.37606	T	0.19	.	10.2936	0.43610	0.0:0.0803:0.0:0.9197	.	2708	Q9UKN7	MYO15_HUMAN	A	2708	ENSP00000205890:V2708A	ENSP00000205890:V2708A	V	+	2	0	MYO15A	17998204	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.531000	0.60602	1.952000	0.56665	0.460000	0.39030	GTG		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		C	18057479	T	C	18057479	3	2	65	1	0	0	0	0	1	0	0	0	10063	1696	59	2	8289	2	MYO15A	17	18057479	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	10479267	18057479	63137731	58	6336											
ENOSF1	55556	mdanderson.org	37	chr18	712568	712568	+	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	cgtcccggaccgagagccggGagatcctgccgcgcaccatg	7	4	14	16	6	0	2	0	0	0	2	2	5	2	3	6	2	2	1	6	2	0	0	rs3786349	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr18:712568G>A	ENST00000251101.7	-	1	108	c.20C>T	c.(19-21)tCc>tTc	p.S7F	ENOSF1_ENST00000580982.1_Missense_Mutation_p.S7F|ENOSF1_ENST00000539164.1_Missense_Mutation_p.S7F|ENOSF1_ENST00000383578.3_5'UTR|ENOSF1_ENST00000340116.7_5'Flank	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	7					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						CGAGAGCCGGGAGATCCTGCC	0.766													G|||	601	0.120008	0.0265	0.0778	5008	,	,		9725	0.2748		0.1412	False		,,,				2504	0.0951					.											0								G	,PHE/SER	105,3179		1,103,1538	5	5	5		,20	-1.5	0	18	dbSNP_107	5	546,5710		15,516,2597	no	utr-5,missense	ENOSF1	NM_001126123.3,NM_017512.5	,155	16,619,4135	AA,AG,GG		8.7276,3.1973,6.8239	,benign	,7/444	712568	651,8889	1642	3128	4770	SO:0001583	missense	55556			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.20C>T	18.37:g.712568G>A	ENSP00000251101:p.Ser7Phe		A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	CCDS11822.1	329	0.15064102564102563	28	0.056910569105691054	34	0.09392265193370165	161	0.28146853146853146	106	0.13984168865435356	G	10.32	1.318029	0.23994	0.031973	0.087276	ENSG00000132199	ENST00000251101;ENST00000539164	T;T	0.42131	0.98;0.98	4.19	-1.5	0.08691	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.30455	0.28	B	0.25506	0.061	T	0.26018	-1.0115	8	0.42905	T	0.14	.	10.165	0.42875	0.083:0.5405:0.3765:0.0	rs3786349	7	Q7L5Y1	ENOF1_HUMAN	F	7	ENSP00000251101:S7F;ENSP00000446321:S7F	ENSP00000251101:S7F	S	-	2	0	ENOSF1	702568	0.079000	0.21365	0.023000	0.16930	0.684000	0.39900	0.057000	0.14279	-0.433000	0.07286	0.313000	0.20887	TCC		0.766	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		A	712568	G	A	712568	3	1	65	1	0	0	0	0	1	0	0	0	5125	1174	41	3	1519	3	ENOSF1	18	712568	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		712568	77364680	59	6337											
CTDP1	9150	broad.mit.edu	37	chr18	77477838	77477838	+	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	gccctgcggcctttcccgacCgggagggtgtgccccccacc	3	6	13	19	3	0	0	0	0	0	0	1	2	1	1	8	3	2	0	8	3	0	1			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr18:77477838C>T	ENST00000299543.7	+	10	2386	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	CTDP1_ENST00000075430.7_Missense_Mutation_p.R747W	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	747					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTTTCCCGACCGGGAGGGTGT	0.667																																						.											0													38	44	42					18																	77477838		2203	4300	6503	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2239C>T	18.37:g.77477838C>T	ENSP00000299543:p.Arg747Trp		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202466	0.38905	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.48522	0.81;0.81	5.22	2.76	0.32466	FCP1-like phosphatase, C-terminal (1);	0.476726	0.24289	N	0.039825	T	0.58694	0.2140	L	0.50333	1.59	0.30776	N	0.742543	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.65443	0.893;0.893;0.935	T	0.62324	-0.6878	10	0.66056	D	0.02	-37.4624	11.866	0.52493	0.7087:0.2913:0.0:0.0	.	628;747;747	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	W	747	ENSP00000299543:R747W;ENSP00000075430:R747W	ENSP00000075430:R747W	R	+	1	2	CTDP1	75578826	1.000000	0.71417	0.564000	0.28396	0.064000	0.16182	2.452000	0.44961	0.276000	0.22118	-0.457000	0.05445	CGG		0.667	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77477838	C	T	77477838	3	4	65	1	0	0	0	0	1	0	0	0	4002	643	23	1	2277	1	CTDP1	18	77477838	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	76765270	77477838	599410	60	6338											
SBNO2	22904	ucsc.edu;bcgsc.ca	37	chr19	1116843	1116843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactcagcggccgagacgAagcagttgaggtgcccatcg	9	7	13	12	4	1	2	1	1	0	1	2	4	1	2	2	2	4	2	2	2	2	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr19:1116843A>G	ENST00000361757.3	-	16	2024	c.1787T>C	c.(1786-1788)tTc>tCc	p.F596S	SBNO2_ENST00000587024.1_Missense_Mutation_p.F586S|SBNO2_ENST00000438103.2_Missense_Mutation_p.F539S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	596					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGAGACGAAGCAGTTGAG	0.677																																						.											0													35	42	40					19																	1116843		2167	4255	6422	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1787T>C	19.37:g.1116843A>G	ENSP00000354733:p.Phe596Ser		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142945	0.57044	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.90705	3.14	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.998;0.999	D	0.84066	0.0377	9	0.49607	T	0.09	-26.5993	12.8397	0.57794	1.0:0.0:0.0:0.0	.	596;596;539	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	S	596;539;620	.	ENSP00000250872:F620S	F	-	2	0	SBNO2	1067843	1.000000	0.71417	0.997000	0.53966	0.026000	0.11368	8.873000	0.92357	1.879000	0.54435	0.460000	0.39030	TTC		0.677	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		G	1116843	A	G	1116843	3	3	65	1	0	0	0	0	1	0	0	0	13863	246	9	4	2381	4	SBNO2	19	1116843	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10		1116843	58012140	61	6339											
S1PR2	9294	mdanderson.org	37	chr19	10334663	10334663	+	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	ttgcacccccacccccggccTccagcactgcagcggccgaa	7	4	9	21	3	0	0	0	0	0	0	1	1	1	0	7	2	4	3	7	2	1	1	rs2116942	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr19:10334663T>G	ENST00000590320.1	-	2	1029	c.919A>C	c.(919-921)Agg>Cgg	p.R307R	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	307					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						ACCCCCGGCCTCCAGCACTGC	0.706													G|||	2764	0.551917	0.7678	0.4568	5008	,	,		9629	0.3095		0.5895	False		,,,				2504	0.5389				Pancreas(194;229 3020 15179 45747)	.											0								G		3127,1219		1156,815,202	15	18	17		919	1.6	0.4	19	dbSNP_96	17	5012,3506		1509,1994,756	no	coding-synonymous	S1PR2	NM_004230.3		2665,2809,958	GG,GT,TT		41.1599,28.0488,36.7304		307/354	10334663	8139,4725	2173	4259	6432	SO:0001819	synonymous_variant	9294			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.919A>C	19.37:g.10334663T>G			Q86UN8	Silent	SNP	ENST00000590320.1	37	CCDS12229.1																																																																																				0.706	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		G	10334663	T	G	10334663	2	3	65	1	0	0	0	0	0	0	0	1	13794	1550	54	5		5	S1PR2	19	10334663	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10	9217820	10334663	48794320	62	6340											
OR10H2	26538	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	15839010	15839010	+	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	tggccaccgtctggagcgagCgcagcctccacacgcccatg	7	5	12	17	4	1	0	0	0	1	0	2	2	2	1	5	2	3	1	5	2	0	0	rs373719619		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr19:15839010C>T	ENST00000305899.3	+	1	177	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGGAGCGAGCGCAGCCTCCA	0.612																																						.											0													197	159	172					19																	15839010		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.157C>T	19.37:g.15839010C>T	ENSP00000306095:p.Arg53Cys		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	12.82	2.052310	0.36181	.	.	ENSG00000171942	ENST00000305899	T	0.01084	5.36	2.88	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.270198	0.26563	N	0.023673	T	0.01523	0.0049	M	0.64630	1.985	0.34217	D	0.674979	B	0.22983	0.078	B	0.15870	0.014	T	0.20140	-1.0284	10	0.56958	D	0.05	.	5.6424	0.17571	0.0:0.8456:0.0:0.1544	.	53	O60403	O10H2_HUMAN	C	53	ENSP00000306095:R53C	ENSP00000306095:R53C	R	+	1	0	OR10H2	15700010	0.000000	0.05858	0.919000	0.36401	0.801000	0.45260	-0.657000	0.05335	1.446000	0.47643	0.537000	0.68136	CGC		0.612	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839010	C	T	15839010	3	4	65	1	0	0	0	0	1	0	0	0	10906	768	27	1	159	1	OR10H2	19	15839010	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10	5504347	15839010	43289973	63	6341											
ZNF528	84436	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	52919685	52919685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacaaatgtaatcaatgtgGcaaggtctttaatcaagcat	15	13	7	6	0	3	0	2	0	1	0	3	0	3	0	0	2	2	3	0	2	7	4			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr19:52919685G>T	ENST00000360465.3	+	7	2006	c.1580G>T	c.(1579-1581)gGc>gTc	p.G527V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	527					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)		AATCAATGTGGCAAGGTCTTT	0.393																																						.											0													69	64	66					19																	52919685		2203	4300	6503	SO:0001583	missense	84436			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.1580G>T	19.37:g.52919685G>T	ENSP00000353652:p.Gly527Val		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908812	0.17833	.	.	ENSG00000167555	ENST00000360465	T	0.23754	1.89	1.94	0.84	0.18912	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53690	0.1812	H	0.94462	3.54	0.42832	D	0.994028	D	0.76494	0.999	D	0.65140	0.932	T	0.57100	-0.7869	9	0.87932	D	0	.	7.3395	0.26630	0.1512:0.0:0.8488:0.0	.	527	Q3MIS6	ZN528_HUMAN	V	527	ENSP00000353652:G527V	ENSP00000353652:G527V	G	+	2	0	ZNF528	57611497	0.982000	0.34865	0.063000	0.19743	0.026000	0.11368	1.708000	0.37899	0.140000	0.18849	-0.262000	0.10625	GGC		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		T	52919685	G	T	52919685	3	4	65	1	0	0	0	0	1	0	0	0	17966	1203	42	5	1594	5	ZNF528	19	52919685	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10	37080675	52919685	6209298	64	6342											
TGM3	7053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr20	2306576	2306576	+	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	ggatggcaggtgttggatgcTaccccgcaggaaagaagcca	11	6	15	9	1	0	1	0	0	0	1	0	4	0	4	3	5	3	4	3	5	3	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr20:2306576T>C	ENST00000381458.5	+	8	1128	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	355					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGTTGGATGCTACCCCGCAGG	0.522																																						.											0													122	80	94					20																	2306576		2202	4299	6501	SO:0001819	synonymous_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1065T>C	20.37:g.2306576T>C			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	CCDS33435.1																																																																																				0.522	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		C	2306576	T	C	2306576	2	2	65	1	0	0	0	0	0	0	0	1	15828	1509	53	2		2	TGM3	20	2306576	Silent	SNP	T	TCGA-KO-8416-01A-11D-2310-10		2306576	60718944	65	6343											
GDF5	8200	broad.mit.edu	37	chr20	34021909	34021909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgggagcgcaatgggAactcgcacagcccctcgcag	9	4	14	14	3	0	0	0	0	0	0	2	2	0	2	3	3	3	3	3	3	2	0			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr20:34021909A>G	ENST00000374372.1	-	4	1807	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	GDF5_ENST00000374369.3_Missense_Mutation_p.F435S|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	435					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)			GCGCAATGGGAACTCGCACAG	0.602																																						.											0													135	118	124					20																	34021909		2203	4300	6503	SO:0001583	missense	8200			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.1304T>C	20.37:g.34021909A>G	ENSP00000363492:p.Phe435Ser		E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999143	0.74818	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	D;D	0.84146	-1.81;-1.81	4.53	4.53	0.55603	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90300	0.6966	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91390	0.5134	10	0.87932	D	0	.	14.0234	0.64571	1.0:0.0:0.0:0.0	.	435;435	F1T0J1;P43026	.;GDF5_HUMAN	S	435	ENSP00000363489:F435S;ENSP00000363492:F435S	ENSP00000363489:F435S	F	-	2	0	GDF5	33485323	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.139000	0.94554	1.893000	0.54813	0.459000	0.35465	TTC		0.602	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			G	34021909	A	G	34021909	3	3	65	1	0	0	0	0	1	0	0	0	6316	246	9	4	205	4	GDF5	20	34021909	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	31715333	34021909	29003611	66	6344											
C20orf117	140710	bcgsc.ca	37	chr20	35437043	35437043	+	Missense_Mutation	SNP	T	T	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	gggactcctgcaccagcatgTtcttctcctggctccagaat	7	11	9	14	0	2	1	0	0	2	1	5	2	4	2	4	2	2	4	4	2	1	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr20:35437043T>C	ENST00000357779.3	-	8	2299	c.1973A>G	c.(1972-1974)aAc>aGc	p.N658S	SOGA1_ENST00000456801.2_Missense_Mutation_p.N499S|SOGA1_ENST00000279034.6_Missense_Mutation_p.N658S|SOGA1_ENST00000237536.4_Missense_Mutation_p.N896S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	658					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						CACCAGCATGTTCTTCTCCTG	0.582											OREG0025909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													47	50	49					20																	35437043		1958	4165	6123	SO:0001583	missense	140710			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.1973A>G	20.37:g.35437043T>C	ENSP00000350424:p.Asn658Ser	855	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	T	17.78	3.473425	0.63737	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.28	5.28	0.74379	.	0.048321	0.85682	D	0.000000	T	0.35970	0.0950	L	0.36672	1.1	0.41468	D	0.98808	B	0.31435	0.323	B	0.34824	0.19	T	0.15321	-1.0441	10	0.26408	T	0.33	-56.7913	14.3227	0.66496	0.0:0.0:0.0:1.0	.	658	O94964-4	.	S	896;658;499;658	ENSP00000237536:N896S;ENSP00000279034:N658S;ENSP00000413886:N499S;ENSP00000350424:N658S	ENSP00000237536:N896S	N	-	2	0	KIAA0889	34870457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.807000	0.62576	2.216000	0.71823	0.533000	0.62120	AAC		0.582	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		C	35437043	T	C	35437043	3	2	65	1	0	0	0	0	1	0	0	0	2083	1725	60	2	2392	2	C20orf117	20	35437043	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	1415134	35437043	27588477	67	6345											
USP25	29761	broad.mit.edu	37	chr21	17150316	17150316	+	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	cagggcattcagggagactgGaataactgatgaggaacaag	15	6	14	6	0	1	3	1	2	0	1	1	6	1	5	0	4	2	1	0	4	4	2			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr21:17150316G>A	ENST00000285679.6	+	4	731	c.362G>A	c.(361-363)gGa>gAa	p.G121E	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000285681.2_Missense_Mutation_p.G121E|USP25_ENST00000351097.5_Missense_Mutation_p.G121E|USP25_ENST00000400183.2_Missense_Mutation_p.G121E	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	121					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGGGAGACTGGAATAACTGAT	0.343																																						.											0													59	60	60					21																	17150316		2203	4300	6503	SO:0001583	missense	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.362G>A	21.37:g.17150316G>A	ENSP00000285679:p.Gly121Glu		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735801	0.89482	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.30448	1.94;1.95;1.53;1.95	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.91635	0.943;0.998;0.943;0.999	T	0.20940	-1.0260	10	0.19590	T	0.45	.	18.85	0.92224	0.0:0.0:1.0:0.0	.	121;121;121;121	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	E	121	ENSP00000285681:G121E;ENSP00000285679:G121E;ENSP00000299574:G121E;ENSP00000383044:G121E	ENSP00000285679:G121E	G	+	2	0	USP25	16072187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.379000	0.97198	2.526000	0.85167	0.585000	0.79938	GGA		0.343	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			A	17150316	G	A	17150316	3	1	65	1	0	0	0	0	1	0	0	0	17053	1174	41	3	376	3	USP25	21	17150316	Missense_Mutation	SNP	G	TCGA-KO-8416-01A-11D-2310-10		17150316	30979579	68	6346											
TRIOBP	11078	mdanderson.org	37	chr22	38122448	38122448	+	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	ccccaggcgcagtgcagcagCgggggccgcacccacagccc	7	1	14	19	3	0	0	0	0	0	0	0	0	0	0	5	3	4	4	5	3	0	0	rs739137	byFrequency	TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chr22:38122448C>T	ENST00000406386.3	+	7	4140	c.3885C>T	c.(3883-3885)agC>agT	p.S1295S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1295					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGTGCAGCAGCGGGGGCCGCA	0.726													C|||	1686	0.336661	0.1543	0.2867	5008	,	,		13163	0.5863		0.3877	False		,,,				2504	0.3088					.											0								C		648,3004		99,450,1277	5	7	6		3885	3.6	1	22	dbSNP_86	6	3246,4490		767,1712,1389	no	coding-synonymous	TRIOBP	NM_001039141.2		866,2162,2666	TT,TC,CC		41.9597,17.7437,34.1939		1295/2366	38122448	3894,7494	1826	3868	5694	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3885C>T	22.37:g.38122448C>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																				0.726	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38122448	C	T	38122448	2	4	65	1	0	0	0	0	0	0	0	1	16550	767	27	1		1	TRIOBP	22	38122448	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10		38122448	13182118	69	6347											
CD99	4267	broad.mit.edu	37	chrX	2658825	2658825	+	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	ctctgtctcccacagttcagCgtactcttttagagaaatag	10	13	7	11	1	4	1	1	0	3	1	5	2	4	1	1	0	2	2	1	0	4	5			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:2658825C>T	ENST00000381192.3	+	10	720	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	CD99_ENST00000381187.3_Missense_Mutation_p.R164C	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	180					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CACAGTTCAGCGTACTCTTTT	0.507																																						.											0													246	235	239					X																	2658825		2203	4296	6499	SO:0001583	missense	4267			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"Pseudoautosomal regions / PAR1", "CD molecules"	7082	protein-coding gene	gene with protein product		313470, 450000	"antigen identified by monoclonal antibodies 12E7, F21 and O13", "CD99 antigen"	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.538C>T	X.37:g.2658825C>T	ENSP00000370588:p.Arg180Cys		A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	ENST00000381192.3	37	CCDS14119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.349|9.349	1.065017|1.065017	0.20067|0.20067	.|.	.|.	ENSG00000002586|ENSG00000002586	ENST00000381177|ENST00000381192;ENST00000381187	.|T;T	.|0.32988	.|1.45;1.43	1.06|1.06	0.16|0.16	0.14972|0.14972	.|.	.|0.193478	.|0.31648	.|U	.|0.007288	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.63880	.|0.993;0.993;0.993	.|B;B;B	.|0.32928	.|0.155;0.155;0.155	T|T	0.33675|0.33675	-0.9859|-0.9859	6|10	0.87932|0.52906	D|T	0|0.07	.|.	3.1953|3.1953	0.06631|0.06631	0.0:0.6805:0.0:0.3195|0.0:0.6805:0.0:0.3195	.|.	.|164;180;180	.|A6NIW1;B2R932;P14209	.|.;.;CD99_HUMAN	V|C	78|180;164	.|ENSP00000370588:R180C;ENSP00000370582:R164C	ENSP00000370570:A78V|ENSP00000370582:R164C	A|R	+|+	2|1	0|0	CD99|CD99	2668825|2668825	0.043000|0.043000	0.20138|0.20138	0.005000|0.005000	0.12908|0.12908	0.523000|0.523000	0.34469|0.34469	-0.075000|-0.075000	0.11431|0.11431	-0.010000|-0.010000	0.14271|0.14271	0.284000|0.284000	0.19432|0.19432	GCG|CGT		0.507	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		T	2658825	C	T	2658825	3	4	65	1	0	0	0	0	1	0	0	0	3050	768	27	1	576	1	CD99	23	2658825	Missense_Mutation	SNP	C	TCGA-KO-8416-01A-11D-2310-10		2658825	152611735	70	6348											
SHROOM2	357	broad.mit.edu	37	chrX	9900608	9900608	+	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	gtcctcggcaggcccttcccAacgccatcccctgcgtccct	4	8	8	21	3	0	0	0	0	0	0	5	0	4	0	7	2	2	1	7	2	1	1			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:9900608A>C	ENST00000380913.3	+	6	3375	c.3285A>C	c.(3283-3285)ccA>ccC	p.P1095P	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1095					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)				GGCCCTTCCCAACGCCATCCC	0.697																																						.											0													41	37	39					X																	9900608		2203	4300	6503	SO:0001819	synonymous_variant	357			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.3285A>C	X.37:g.9900608A>C			B9EIQ7	Silent	SNP	ENST00000380913.3	37	CCDS14135.1																																																																																				0.697	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		C	9900608	A	C	9900608	2	2	65	1	0	0	0	0	0	0	0	1	14294	117	5	5		5	SHROOM2	23	9900608	Silent	SNP	A	TCGA-KO-8416-01A-11D-2310-10	7241783	9900608	145369952	71	6349											
DCAF8L2	347442	mdanderson.org	37	chrX	27765417	27765417	+	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	gaagaggaggaggaggaggaGgaggaggaggaggaggagga	15	0	26	0	0	0	1	0	0	0	1	0	14	0	13	0	12	0	0	0	12	1	0			TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:27765417G>A	ENST00000451261.2	+	5	804	c.405G>A	c.(403-405)gaG>gaA	p.E135E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	135	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaggaggaggagg	0.577																																						.											0													15	14	14					X																	27765417		692	1587	2279	SO:0001819	synonymous_variant	347442				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.405G>A	X.37:g.27765417G>A			B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																				0.577	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		A	27765417	G	A	27765417	2	1	65	1	0	0	0	0	0	0	0	1	4278	991	35	4		4	DCAF8L2	23	27765417	Silent	SNP	G	TCGA-KO-8416-01A-11D-2310-10	17864809	27765417	127505143	72	6350											
TAF7L	54457	mdanderson.org	37	chrX	100531437	100531437	+	Silent	SNP	C	C	T																															tcctcatcctcatcctcatcCtcatcttcatcatcctcatc																										TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:100531437C>T	ENST00000372907.3	-	10	1040	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Silent_p.E257E|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	343	Glu-rich.				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						catcctcatcctcatcttcat	0.413																																					Ovarian(104;431 1530 3210 15406 18594)	.											0													210	163	179					X																	100531437		2203	4300	6503	SO:0001819	synonymous_variant	54457			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.1029G>A	X.37:g.100531437C>T			Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	CCDS35347.1																																																																																				0.413	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			T	100531437	C	T	100531437	2	4	65	1	0	0	0	0	0	0	0	1	15530	680	24	4		4	TAF7L	23	100531437	Silent	SNP	C	TCGA-KO-8416-01A-11D-2310-10	72766020	100531437	54739123	73	6351	174	3									
TAF7L	54457	mdanderson.org	37	chrX	100531443	100531443	+	Missense_Mutation	SNP	T	T	A																															tcctcatcctcatcctcatcTtcatcatcctcatcctcatc																								rs201479972		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:100531443T>A	ENST00000372907.3	-	10	1034	c.1023A>T	c.(1021-1023)gaA>gaT	p.E341D	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.E255D|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	341	Glu-rich.				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						catcctcatcttcatcatcct	0.423																																					Ovarian(104;431 1530 3210 15406 18594)	.											0													214	170	185					X																	100531443		2203	4300	6503	SO:0001583	missense	54457			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.1023A>T	X.37:g.100531443T>A	ENSP00000361998:p.Glu341Asp		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	t	3.169	-0.170386	0.06461	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.04194	3.68;5.26	4.65	-9.3	0.00649	Armadillo-like helical (1);	0.509071	0.14654	N	0.306382	T	0.00906	0.0030	N	0.00926	-1.1	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.34254	-0.9836	10	0.13853	T	0.58	0.4824	1.2941	0.02066	0.3347:0.1119:0.1394:0.414	.	341	Q5H9L4	TAF7L_HUMAN	D	341;255	ENSP00000361998:E341D;ENSP00000349235:E255D	ENSP00000349235:E255D	E	-	3	2	TAF7L	100418099	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.944000	0.00681	-2.253000	0.00698	-1.727000	0.00703	GAA		0.423	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			A	100531443	T	A	100531443	3	1	65	1	0	0	0	0	1	0	0	0	15530	1606	56	5	381	5	TAF7L	23	100531443	Missense_Mutation	SNP	T	TCGA-KO-8416-01A-11D-2310-10	6	100531443	54739117	74	6352	174	3									
TAF7L	54457	mdanderson.org	37	chrX	100531446	100531446	+	Missense_Mutation	SNP	A	A	C																															tcatcctcatcctcatcttcAtcatcctcatcctcatcatc																								rs200145772		TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:100531446A>C	ENST00000372907.3	-	10	1031	c.1020T>G	c.(1018-1020)gaT>gaG	p.D340E	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.D254E|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	340	Glu-rich.				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						cctcatcttcatcatcctcat	0.423																																					Ovarian(104;431 1530 3210 15406 18594)	.											0													216	172	187					X																	100531446		2203	4300	6503	SO:0001583	missense	54457			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.1020T>G	X.37:g.100531446A>C	ENSP00000361998:p.Asp340Glu		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	a	1.221	-0.626850	0.03610	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.20463	3.75;2.07	4.65	-8.53	0.00916	Armadillo-like helical (1);	1.425020	0.05265	N	0.516431	T	0.05318	0.0141	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27938	-1.0059	10	0.02654	T	1	0.0484	3.5395	0.07806	0.2328:0.4402:0.222:0.105	.	340	Q5H9L4	TAF7L_HUMAN	E	340;254	ENSP00000361998:D340E;ENSP00000349235:D254E	ENSP00000349235:D254E	D	-	3	2	TAF7L	100418102	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.122000	0.01321	-1.525000	0.01762	-0.457000	0.05445	GAT		0.423	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			C	100531446	A	C	100531446	3	2	65	1	0	0	0	0	1	0	0	0	15530	214	8	5	384	5	TAF7L	23	100531446	Missense_Mutation	SNP	A	TCGA-KO-8416-01A-11D-2310-10	3	100531446	54739114	75	6353	174	3									
SLC6A14	11254	hgsc.bcm.edu	37	chrX	115572265	115572265	+	Splice_Site	DEL	G	G	-																															ggattcttccattgtttcaaGgttggtattaaagcgttttc																										TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:115572265delG	ENST00000371900.4	+	3	434	c.346delG	c.(346-348)ggt>gt	p.G116fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	116					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)	ATTGTTTCAAGGTTGGTATTA	0.373																																						.											0													222	206	212					X																	115572265		2203	4300	6503	SO:0001630	splice_region_variant	11254			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.346+1G>-	X.37:g.115572265delG			Q5H942	Frame_Shift_Del	DEL	ENST00000371900.4	37	CCDS14570.1																																																																																				0.373	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Frame_Shift_Del	-	115572265	G	-	115572265	8	5	65	1	0	1	0	1	0	0	1	0	14677	1014	35	0	356	0	SLC6A14	23	115572265	Splice_Site	DEL	G	TCGA-KO-8416-01A-11D-2310-10	15040819	115572265	39698295	76	6354	175	2									
SLC6A14	11254	bcgsc.ca	37	chrX	115572266	115572266	+	Splice_Site	DEL	G	G	-																															gattcttccattgtttcaagGttggtattaaagcgttttct																										TCGA-KO-8416-01A-11D-2310-10	TCGA-KO-8416-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9d29543e-8601-4fd0-8e76-3df3de465cab	539a0194-ea33-4213-b815-b8dbbc07a276	g.chrX:115572266delG	ENST00000371900.4	+	3	434		c.e3+1			NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14						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)	TTGTTTCAAGGTTGGTATTAA	0.373																																						.											0													220	204	209					X																	115572266		2203	4300	6503	SO:0001630	splice_region_variant	11254			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.346+1G>-	X.37:g.115572266delG			Q5H942	Splice_Site	DEL	ENST00000371900.4	37	CCDS14570.1																																																																																				0.373	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Intron	-	115572266	G	-	115572266	8	5	65	1	0	1	0	1	0	0	1	0	14677	1275	44	0	357	0	SLC6A14	23	115572266	Splice_Site	DEL	G	TCGA-KO-8416-01A-11D-2310-10	1	115572266	39698294	77	6355	175	2									
NOC2L	26155	ucsc.edu	37	chr1	880468	880468	+	Silent	SNP	C	C	T																															ctgctgtcctcctcgccctcCtcctcgtcctcttcatcgtc																								rs368313199|rs372255682	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:880468C>T	ENST00000327044.6	-	18	2161	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	704	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		cctcgccctcctcctcgtcct	0.622																																						.											0													124	115	118					1																	880468		2203	4300	6503	SO:0001819	synonymous_variant	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2112G>A	1.37:g.880468C>T			Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	CCDS3.1																																																																																				0.622	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		T	880468	C	T	880468	2	4	66	1	0	0	0	0	0	0	0	1	10513	680	24	4		4	NOC2L	1	880468	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10		880468	248370153	1	6356	176	2									
NOC2L	26155	ucsc.edu	37	chr1	880475	880475	+	Missense_Mutation	SNP	T	T	C																															cctcctcgccctcctcctcgTcctcttcatcgtcttccacc																								rs368313199|rs372255682	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:880475T>C	ENST00000327044.6	-	18	2154	c.2105A>G	c.(2104-2106)gAc>gGc	p.D702G		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	702	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ctcctcctcgtcctcttcatc	0.622																																						.											0																																										SO:0001583	missense	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2105A>G	1.37:g.880475T>C	ENSP00000317992:p.Asp702Gly		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.289827	0.23478	.	.	ENSG00000188976	ENST00000327044	T	0.26810	1.71	3.68	-0.445	0.12242	Armadillo-type fold (1);	2.008120	0.02105	N	0.054339	T	0.18425	0.0442	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.001	B;B;B	0.20767	0.031;0.031;0.002	T	0.14727	-1.0462	10	0.25751	T	0.34	0.5989	4.3641	0.11216	0.0:0.212:0.1769:0.6111	.	702;702;469	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	G	702	ENSP00000317992:D702G	ENSP00000317992:D702G	D	-	2	0	NOC2L	870338	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.335000	0.07873	0.046000	0.15833	-0.796000	0.03273	GAC		0.622	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		C	880475	T	C	880475	3	2	66	1	0	0	0	0	1	0	0	0	10513	1667	58	2	152	2	NOC2L	1	880475	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	7	880475	248370146	2	6357	176	2									
AJAP1	55966	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr1	4772576	4772576	+	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	tacaaacacggaagacaactGtggccgccaccaccaccacc	14	3	7	17	2	0	1	0	0	0	1	0	2	0	2	6	2	3	0	6	2	4	1			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:4772576G>C	ENST00000378191.4	+	2	1027	c.646G>C	c.(646-648)Gtg>Ctg	p.V216L	AJAP1_ENST00000378190.3_Missense_Mutation_p.V216L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	216	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)		GAAGACAACTGTGGccgccac	0.647																																						.											0													32	31	31					1																	4772576		2203	4299	6502	SO:0001583	missense	55966			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.646G>C	1.37:g.4772576G>C	ENSP00000367433:p.Val216Leu		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530294	0.27387	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45276	0.9;0.9	5.35	4.42	0.53409	.	0.500610	0.18335	N	0.144364	T	0.28001	0.0690	N	0.17082	0.46	0.28859	N	0.895599	B	0.28291	0.206	B	0.31101	0.124	T	0.16630	-1.0396	10	0.25106	T	0.35	-5.2669	11.9527	0.52964	0.0:0.1754:0.8246:0.0	.	216	Q9UKB5	AJAP1_HUMAN	L	216	ENSP00000367432:V216L;ENSP00000367433:V216L	ENSP00000367432:V216L	V	+	1	0	AJAP1	4672436	0.928000	0.31464	0.027000	0.17364	0.774000	0.43823	1.764000	0.38471	1.218000	0.43458	0.467000	0.42956	GTG		0.647	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		C	4772576	G	C	4772576	3	2	66	1	0	0	0	0	1	0	0	0	438	1377	48	5	652	5	AJAP1	1	4772576	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	3892101	4772576	244478045	3	6358											
TRIM63	84676	mdanderson.org;bcgsc.ca	37	chr1	26385003	26385003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgaagctaagcttttTctcctgctcctgcgtgatcc	6	14	8	13	2	1	2	0	2	1	0	5	3	3	2	3	0	4	3	3	0	2	3	rs2275950	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:26385003T>C	ENST00000374272.3	-	5	847	c.709A>G	c.(709-711)Aaa>Gaa	p.K237E	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	237			K -> E (in dbSNP:rs2275950). {ECO:0000269|PubMed:11243782, ECO:0000269|PubMed:15489334}.		cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K237E(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTAAGCTTTTTCTCCTGCTCC	0.537													C|||	913	0.182308	0.267	0.1239	5008	,	,		20137	0.1706		0.2187	False		,,,				2504	0.0838					.											1	Substitution - Missense(1)	stomach(1)						C	GLU/LYS	1195,3211	710.2+/-407.8	175,845,1183	177	161	166		709	5.5	1	1	dbSNP_100	166	1862,6738	729.6+/-406.7	197,1468,2635	yes	missense	TRIM63	NM_032588.2	56	372,2313,3818	CC,CT,TT		21.6512,27.1221,23.5045	benign	237/354	26385003	3057,9949	2203	4300	6503	SO:0001583	missense	84676			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.709A>G	1.37:g.26385003T>C	ENSP00000363390:p.Lys237Glu		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	CCDS273.1	434	0.1987179487179487	127	0.258130081300813	43	0.11878453038674033	100	0.17482517482517482	164	0.21635883905013192	C	7.836	0.720876	0.15372	0.271221	0.216512	ENSG00000158022	ENST00000374272	T	0.40756	1.02	5.5	5.5	0.81552	.	0.198167	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00043	-2.47	0.48830	P	2.889999999999837E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	9	0.02654	T	1	.	14.2207	0.65826	0.0:0.9273:0.0:0.0727	rs2275950;rs52817885;rs60345068;rs2275950	237	Q969Q1	TRI63_HUMAN	E	237	ENSP00000363390:K237E	ENSP00000363390:K237E	K	-	1	0	TRIM63	26257590	0.957000	0.32711	1.000000	0.80357	0.788000	0.44548	2.222000	0.42926	1.336000	0.45506	-0.215000	0.12644	AAA		0.537	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		C	26385003	T	C	26385003	3	2	66	1	0	0	0	0	1	0	0	0	16535	1792	62	4	372	4	TRIM63	1	26385003	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	21612427	26385003	222865618	4	6359											
HCRTR1	3061	ucsc.edu;bcgsc.ca	37	chr1	32084861	32084861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagagagccgtcccctgTgcctccagactatgaagatg	10	7	11	13	1	0	4	0	1	0	3	2	5	2	4	5	0	3	1	5	0	2	1	rs11806980	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:32084861T>C	ENST00000373706.5	+	1	221	c.68T>C	c.(67-69)gTg>gCg	p.V23A	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.V23A|HCRTR1_ENST00000403528.2_Missense_Mutation_p.V23A			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	23					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CCGTCCCCTGTGCCTCCAGAC	0.612													T|||	204	0.0407348	0.1437	0.0187	5008	,	,		19073	0		0.001	False		,,,				2504	0					.											0								T	ALA/VAL	551,3855	250.9+/-257.8	35,481,1687	98	101	100		68	-2.6	0.1	1	dbSNP_120	100	3,8597	3.0+/-9.4	0,3,4297	yes	missense	HCRTR1	NM_001525.2	64	35,484,5984	CC,CT,TT		0.0349,12.5057,4.2596	benign	23/426	32084861	554,12452	2203	4300	6503	SO:0001583	missense	3061			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.68T>C	1.37:g.32084861T>C	ENSP00000362810:p.Val23Ala		A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	CCDS344.1	73	0.033424908424908424	67	0.13617886178861788	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	T	0.130	-1.115174	0.01799	0.125057	3.49E-4	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.59638	0.25;0.25;0.47	3.91	-2.64	0.06114	.	1.606490	0.03596	N	0.232667	T	0.00210	0.0006	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	0.02925	-1.1093	10	0.08837	T	0.75	.	0.8658	0.01203	0.1644:0.3194:0.1983:0.3179	rs11806980	23;23	A6NMV7;O43613	.;OX1R_HUMAN	A	23	ENSP00000384387:V23A;ENSP00000362810:V23A;ENSP00000362809:V23A	ENSP00000362809:V23A	V	+	2	0	HCRTR1	31857448	0.000000	0.05858	0.095000	0.20976	0.693000	0.40251	-0.247000	0.08866	-0.443000	0.07180	0.533000	0.62120	GTG		0.612	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		C	32084861	T	C	32084861	3	2	66	1	0	0	0	0	1	0	0	0	7001	1696	59	2	70	2	HCRTR1	1	32084861	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	5699858	32084861	217165760	5	6360											
GJB5	2709	broad.mit.edu	37	chr1	35223027	35223027	+	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	tctctggtcttcatcttccgCgtgctggtgtacctggtgac	3	15	11	12	2	4	1	1	1	3	0	6	1	5	1	2	3	2	2	2	3	1	3	rs61750010	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:35223027C>T	ENST00000338513.1	+	2	269	c.96C>T	c.(94-96)cgC>cgT	p.R32R	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	32					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCATCTTCCGCGTGCTGGTGT	0.572													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		19499	0		0	False		,,,				2504	0					.											0								C		70,4336	64.1+/-101.4	0,70,2133	115	104	108		96	-11.3	0.1	1	dbSNP_129	108	0,8600		0,0,4300	no	coding-synonymous	GJB5	NM_005268.2		0,70,6433	TT,TC,CC		0.0,1.5887,0.5382		32/274	35223027	70,12936	2203	4300	6503	SO:0001819	synonymous_variant	2709			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.96C>T	1.37:g.35223027C>T			Q9UPA3	Silent	SNP	ENST00000338513.1	37	CCDS382.1																																																																																				0.572	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		T	35223027	C	T	35223027	2	4	66	1	0	0	0	0	0	0	0	1	6411	755	27	1		1	GJB5	1	35223027	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	3138166	35223027	214027594	6	6361											
FHL3	2275	broad.mit.edu	37	chr1	38463083	38463083	+	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	ccaggagccctggcttagggCcctgcctggctacagccctg	5	7	13	16	0	0	0	0	0	0	0	0	1	0	1	5	4	4	2	5	4	2	2			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:38463083C>A	ENST00000373016.3	-	6	1005	c.837G>T	c.(835-837)ggG>ggT	p.G279G	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	279					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)				TGGCTTAGGGCCCTGCCTGGC	0.642																																						.											0													56	61	59					1																	38463083		2203	4300	6503	SO:0001819	synonymous_variant	2275			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.837G>T	1.37:g.38463083C>A			D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	ENST00000373016.3	37	CCDS30678.1																																																																																				0.642	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		A	38463083	C	A	38463083	2	1	66	1	0	0	0	0	0	0	0	1	5880	726	26	5		5	FHL3	1	38463083	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	3240056	38463083	210787538	7	6362											
ANP32E	81611	ucsc.edu;mdanderson.org	37	chr1	150199042	150199042	+	Missense_Mutation	SNP	C	C	A																															tcatcctcatcctcatcctcCtcttcctcttcctcctcctc																								rs56692627|rs28594165|rs68136184	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:150199042C>A	ENST00000314136.8	-	5	948	c.579G>T	c.(577-579)gaG>gaT	p.E193D	ANP32E_ENST00000369116.4_Missense_Mutation_p.E61D|ANP32E_ENST00000436748.2_Missense_Mutation_p.E152D|ANP32E_ENST00000533654.1_Missense_Mutation_p.R138M|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Missense_Mutation_p.E61D|ANP32E_ENST00000369119.3_Missense_Mutation_p.E145D	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	193	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			cctcatcctcctcttcctctt	0.443																																						.											0													236	194	208					1																	150199042		2203	4300	6503	SO:0001583	missense	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.579G>T	1.37:g.150199042C>A	ENSP00000324074:p.Glu193Asp		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	CCDS946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.397|0.397	-0.920493|-0.920493	0.02396|0.02396	.|.	.|.	ENSG00000143401|ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369115;ENST00000534220|ENST00000533654	T;T;T|T	0.00351|0.00342	7.97;7.97;7.97|8.03	3.62|3.62	-7.24|-7.24	0.01475|0.01475	.|.	.|.	.|.	.|.	.|.	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|B	0.02656|0.02656	0.0;0.0;0.0|0.0	B;B;B|B	0.04013|0.01281	0.001;0.0;0.0|0.0	T|T	0.45877|0.45877	-0.9231|-0.9231	9|9	0.11485|0.62326	T|D	0.65|0.03	.|.	0.0398|0.0398	0.00008|0.00008	0.2803:0.2244:0.1888:0.3065|0.2803:0.2244:0.1888:0.3065	rs28594165|rs28594165	152;193;145|138	E9PEA6;Q9BTT0;Q5TB20|E9PLC4	.;AN32E_HUMAN;.|.	D|M	193;145;61;152;7;61;71|138	ENSP00000324074:E193D;ENSP00000358115:E145D;ENSP00000393718:E152D|ENSP00000435215:R138M	ENSP00000324074:E193D|ENSP00000435215:R138M	E|R	-|-	3|2	2|0	ANP32E|ANP32E	148465666|148465666	0.087000|0.087000	0.21565|0.21565	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-2.245000|-2.245000	0.01192|0.01192	-3.665000|-3.665000	0.00124|0.00124	-2.619000|-2.619000	0.00157|0.00157	GAG|AGG		0.443	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		A	150199042	C	A	150199042	3	1	66	1	0	0	0	0	1	0	0	0	709	680	24	5	239	5	ANP32E	1	150199042	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	111735959	150199042	99051579	8	6363	177	2									
ANP32E	81611	ucsc.edu;mdanderson.org	37	chr1	150199045	150199045	+	Silent	SNP	T	T	C																															tcctcatcctcatcctcctcTtcctcttcctcctcctcttc																								rs56692627|rs68136184|rs28460085	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:150199045T>C	ENST00000314136.8	-	5	945	c.576A>G	c.(574-576)gaA>gaG	p.E192E	ANP32E_ENST00000369116.4_Silent_p.E60E|ANP32E_ENST00000436748.2_Silent_p.E151E|ANP32E_ENST00000533654.1_Missense_Mutation_p.K137R|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Silent_p.E60E|ANP32E_ENST00000369119.3_Silent_p.E144E	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	192	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			catcctcctcttcctcttcct	0.438																																						.											0													225	183	197					1																	150199045		2203	4300	6503	SO:0001819	synonymous_variant	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.576A>G	1.37:g.150199045T>C			B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Silent	SNP	ENST00000314136.8	37	CCDS946.1	.	.	.	.	.	.	.	.	.	.	T	4.124	0.021213	0.08006	.	.	ENSG00000143401	ENST00000533654	T	0.00337	8.05	4.98	-1.51	0.08664	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.24003	N	0.996202	B	0.02656	0.0	B	0.04013	0.001	T	0.15925	-1.0420	8	0.56958	D	0.05	.	4.2912	0.10879	0.3012:0.342:0.0:0.3568	rs28460085	137	E9PLC4	.	R	137	ENSP00000435215:K137R	ENSP00000435215:K137R	K	-	2	0	ANP32E	148465669	0.097000	0.21791	0.054000	0.19295	0.014000	0.08584	-2.180000	0.01258	-0.128000	0.11641	-0.366000	0.07423	AAG		0.438	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		C	150199045	T	C	150199045	2	2	66	1	0	0	0	0	0	0	0	1	709	1606	56	2		2	ANP32E	1	150199045	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10	3	150199045	99051576	9	6364	177	2									
S100A7A	338324	bcgsc.ca	37	chr1	153391729	153391729	+	Missense_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	ccttgctgggagacatagccGcagactaccacaagcagagc	12	5	11	13	1	0	3	0	0	0	3	0	4	0	3	3	1	5	3	3	1	3	3	rs3006414	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:153391729G>A	ENST00000368729.4	+	3	307	c.250G>A	c.(250-252)Gca>Aca	p.A84T	S100A7A_ENST00000368728.2_Missense_Mutation_p.A84T|S100A7A_ENST00000329256.2_Missense_Mutation_p.A84T	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	84	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		A -> T (in dbSNP:rs3006414).			cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.A84T(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	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)			AGACATAGCCGCAGACTACCA	0.527													a|||	1047	0.209065	0.4766	0.1686	5008	,	,		16030	0.1379		0.0835	False		,,,				2504	0.0787					.											1	Substitution - Missense(1)	stomach(1)						A	THR/ALA	1893,2513		408,1077,718	81	76	78		250	-2.9	0	1	dbSNP_101	78	765,7835		32,701,3567	no	missense	S100A7A	NM_176823.3	58	440,1778,4285	AA,AG,GG		8.8953,42.9641,20.4367	benign	84/102	153391729	2658,10348	2203	4300	6503	SO:0001583	missense	338324			AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.250G>A	1.37:g.153391729G>A	ENSP00000357718:p.Ala84Thr		D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	CCDS30872.1	436	0.19963369963369965	229	0.4654471544715447	55	0.15193370165745856	85	0.1486013986013986	67	0.08839050131926121	.	0.009	-1.820264	0.00595	0.429641	0.088953	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.06142	3.34;3.34;3.34	1.7	-2.9	0.05648	EF-hand-like domain (1);	.	.	.	.	T	0.00328	0.0010	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	8	0.09843	T	0.71	.	3.6925	0.08351	0.2976:0.0:0.4869:0.2155	rs3006414;rs57686181;rs3006414	84	Q86SG5	S1A7A_HUMAN	T	84	ENSP00000357718:A84T;ENSP00000357717:A84T;ENSP00000329008:A84T	ENSP00000329008:A84T	A	+	1	0	S100A7A	151658353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.964000	0.01512	-1.503000	0.01812	-2.435000	0.00213	GCA		0.527	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		A	153391729	G	A	153391729	3	1	66	1	0	0	0	0	1	0	0	0	13784	1087	38	1	256	1	S100A7A	1	153391729	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	3192684	153391729	95858892	10	6365											
RHBG	57127	bcgsc.ca	37	chr1	156351699	156351699	+	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	tggcagctggcttcttggctGggactgtctccacgctgggg	3	11	16	11	1	2	0	0	0	2	0	3	1	2	1	1	6	1	5	1	6	0	2	rs3748569	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:156351699G>A	ENST00000368249.1	+	6	981	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	RHBG_ENST00000400992.2_Missense_Mutation_p.G283R|RHBG_ENST00000255013.3_Missense_Mutation_p.G246R|RHBG_ENST00000368246.2_Missense_Mutation_p.G315R|RHBG_ENST00000537040.1_Missense_Mutation_p.G153R|RHBG_ENST00000451864.2_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	315			G -> R (in dbSNP:rs3748569). {ECO:0000269|PubMed:15489334}.		ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCTTGGCTGGGACTGTCTC	0.572													G|||	2728	0.544728	0.5719	0.6037	5008	,	,		18935	0.7014		0.4095	False		,,,				2504	0.4438					.											0								G	ARG/GLY	2175,1959		576,1023,468	95	106	103		943	4.4	1	1	dbSNP_107	103	3575,4831		782,2011,1410	yes	missense	RHBG	NM_020407.3	125	1358,3034,1878	AA,AG,GG		42.5291,47.3875,45.8533	probably-damaging	315/459	156351699	5750,6790	2067	4203	6270	SO:0001583	missense	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.943G>A	1.37:g.156351699G>A	ENSP00000357232:p.Gly315Arg		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		1209	0.5535714285714286	287	0.5833333333333334	208	0.574585635359116	403	0.7045454545454546	311	0.4102902374670185	G	26.5	4.744673	0.89663	0.526125	0.425291	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000537040;ENST00000400992;ENST00000255013	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.44	4.44	0.53790	Ammonium transporter AmtB-like (3);	0.049574	0.85682	D	0.000000	T	0.67325	0.2881	M	0.93763	3.455	0.09310	P	1.0	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.998;1.0;0.999	T	0.77643	-0.2511	9	0.72032	D	0.01	-1.7511	14.5902	0.68359	0.0:0.0:1.0:0.0	rs3748569;rs17855953;rs52807244;rs58877861;rs3748569	315;153;283;352	Q9H310;F5GWZ4;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.;.	R	315;315;153;283;246	ENSP00000357232:G315R;ENSP00000357229:G315R;ENSP00000441197:G153R;ENSP00000383777:G283R;ENSP00000255013:G246R	ENSP00000255013:G246R	G	+	1	0	RHBG	154618323	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	7.438000	0.80431	2.286000	0.76751	0.561000	0.74099	GGG		0.572	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		A	156351699	G	A	156351699	3	1	66	1	0	0	0	0	1	0	0	0	13324	1348	47	4	965	4	RHBG	1	156351699	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	2959970	156351699	92898922	11	6366											
ANKRD45	339416	ucsc.edu	37	chr1	173596257	173596257	+	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	ttctgtgtcagtaacagctaAagagacttttgcaatatatt	13	15	7	6	0	2	1	1	0	1	1	2	2	2	1	0	0	3	3	0	0	6	8	rs12059066	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:173596257A>T	ENST00000333279.2	-	4	598	c.538T>A	c.(538-540)Tta>Ata	p.L180I		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	196										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTAACAGCTAAAGAGACTTTT	0.373													A|||	965	0.192692	0.6989	0.0504	5008	,	,		20198	0		0.005	False		,,,				2504	0.001					.											0								A	ILE/LEU	2539,1867	632.6+/-395.9	756,1027,420	145	150	148		538	-3.8	0	1	dbSNP_120	148	32,8568	19.8+/-62.0	0,32,4268	yes	missense	ANKRD45	NM_198493.2	5	756,1059,4688	TT,TA,AA		0.3721,42.374,19.7678	benign	180/267	173596257	2571,10435	2203	4300	6503	SO:0001583	missense	339416				CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.538T>A	1.37:g.173596257A>T	ENSP00000331268:p.Leu180Ile		A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	CCDS1309.1	377	0.17261904761904762	353	0.717479674796748	20	0.055248618784530384	0	0.0	4	0.005277044854881266	A	11.25	1.583800	0.28268	0.57626	0.003721	ENSG00000183831	ENST00000333279	T	0.13778	2.56	5.35	-3.79	0.04320	.	1.555310	0.03916	N	0.282716	T	0.01870	0.0059	N	0.22421	0.69	0.80722	P	0.0	B	0.27068	0.167	B	0.19148	0.024	T	0.35895	-0.9770	9	0.36615	T	0.2	-17.7491	1.2921	0.02062	0.1379:0.3633:0.2467:0.2521	rs12059066;rs52822128;rs12059066	196	Q5TZF3	ANR45_HUMAN	I	180	ENSP00000331268:L180I	ENSP00000331268:L180I	L	-	1	2	ANKRD45	171862880	0.000000	0.05858	0.000000	0.03702	0.656000	0.38851	-0.559000	0.05971	-1.213000	0.02617	0.455000	0.32223	TTA		0.373	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		T	173596257	A	T	173596257	3	4	66	1	0	0	0	0	1	0	0	0	673	11	1	5	274	5	ANKRD45	1	173596257	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	17244558	173596257	75654364	12	6367											
CACYBP	27101	hgsc.bcm.edu	37	chr1	174975972	174975972	+	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	aatgtgcaggtgcatttcacAgagaggtgagttctcattat	11	13	11	6	0	2	2	2	1	1	1	3	3	2	2	0	2	2	3	0	2	2	3	rs1802325	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:174975972A>G	ENST00000367679.2	+	3	775	c.327A>G	c.(325-327)acA>acG	p.T109T	CACYBP_ENST00000367681.2_Silent_p.T66T|CACYBP_ENST00000405362.1_Silent_p.T66T	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	109	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with SKP1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGCATTTCACAGAGAGGTGAG	0.378													A|||	80	0.0159744	0.0598	0.0014	5008	,	,		19433	0		0	False		,,,				2504	0					.											0								A	,	284,4122	158.5+/-191.2	11,262,1930	92	85	87		198,327	3.6	1	1	dbSNP_89	87	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous,coding-synonymous	CACYBP	NM_001007214.1,NM_014412.2	,	11,266,6226	GG,GA,AA		0.0465,6.4458,2.2144	,	66/186,109/229	174975972	288,12718	2203	4300	6503	SO:0001819	synonymous_variant	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.327A>G	1.37:g.174975972A>G			B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	ENST00000367679.2	37	CCDS1315.1																																																																																				0.378	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		G	174975972	A	G	174975972	2	3	66	1	0	0	0	0	0	0	0	1	2564	175	7	2		2	CACYBP	1	174975972	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10	1379715	174975972	74274649	13	6368											
PROX1	5629	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	214171103	214171103	+	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	tccacaccgccaaccagcgcCtgcagtgctttggcgacgtc	7	7	10	17	4	0	0	0	0	0	0	2	1	1	0	5	1	4	2	5	1	1	1			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr1:214171103C>T	ENST00000366958.4	+	2	1833	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	PROX1_ENST00000435016.1_Silent_p.L409L|PROX1_ENST00000261454.4_Silent_p.L409L|PROX1_ENST00000498508.2_Silent_p.L409L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	409					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)		CAACCAGCGCCTGCAGTGCTT	0.582																																						.											0													99	101	100					1																	214171103		2203	4300	6503	SO:0001819	synonymous_variant	5629			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.1225C>T	1.37:g.214171103C>T			A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.582	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		T	214171103	C	T	214171103	2	4	66	1	0	0	0	0	0	0	0	1	12560	680	24	4		4	PROX1	1	214171103	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	39195131	214171103	35079518	14	6369											
ATL2	64225	bcgsc.ca	37	chr2	38525660	38525660	+	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	tatcgccacttccttgagatCcaagtgttttcgctccagat	8	14	7	12	2	0	2	0	1	0	2	5	3	3	2	4	0	0	2	4	0	2	5	rs7582826	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:38525660C>G	ENST00000378954.4	-	12	1259	c.1258G>C	c.(1258-1260)Gat>Cat	p.D420H	ATL2_ENST00000332337.4_Missense_Mutation_p.D402H|ATL2_ENST00000419554.2_Missense_Mutation_p.D420H|ATL2_ENST00000539122.1_Missense_Mutation_p.D249H|ATL2_ENST00000406122.1_Missense_Mutation_p.D249H|ATL2_ENST00000452935.2_Missense_Mutation_p.D402H|ATL2_ENST00000402054.1_Missense_Mutation_p.D249H|ATL2_ENST00000546051.1_Missense_Mutation_p.D249H	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	420			D -> H (in dbSNP:rs7582826).		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						TCCTTGAGATCCAAGTGTTTT	0.418													C|||	335	0.066893	0.2428	0.0159	5008	,	,		20456	0		0.003	False		,,,				2504	0					.											0								C	HIS/ASP,HIS/ASP	866,3540	338.9+/-305.5	83,700,1420	127	125	126		1258,1258	3.6	1	2	dbSNP_116	126	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	ATL2	NM_001135673.1,NM_022374.2	81,81	83,704,5716	GG,GC,CC		0.0465,19.655,6.6892	benign,benign	420/584,420/580	38525660	870,12136	2203	4300	6503	SO:0001583	missense	64225				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.1258G>C	2.37:g.38525660C>G	ENSP00000368237:p.Asp420His		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	CCDS46260.1	138	0.06318681318681318	130	0.26422764227642276	7	0.019337016574585635	0	0.0	1	0.0013192612137203166	C	13.53	2.264129	0.39995	0.19655	4.65E-4	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	T;T;T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37;4.37;4.37	5.51	3.6	0.41247	Guanylate-binding protein, C-terminal (3);	0.187724	0.56097	D	0.000028	T	0.00012	0.0000	N	0.02011	-0.69	0.19575	P	0.999962805	P;B;B;B;B	0.43633	0.813;0.0;0.002;0.0;0.001	P;B;B;B;B	0.51055	0.657;0.02;0.012;0.007;0.012	T	0.60347	-0.7281	9	0.40728	T	0.16	-14.0153	10.4882	0.44735	0.0:0.7938:0.1332:0.0731	rs7582826;rs52809531;rs7582826	249;402;402;420;420	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	H	420;249;249;249;402;420;402;249	ENSP00000368237:D420H;ENSP00000385446:D249H;ENSP00000384062:D249H;ENSP00000446192:D249H;ENSP00000333393:D402H;ENSP00000415336:D420H;ENSP00000390743:D402H;ENSP00000438938:D249H	ENSP00000333393:D402H	D	-	1	0	ATL2	38379164	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.578000	0.46051	1.463000	0.47967	0.591000	0.81541	GAT		0.418	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		G	38525660	C	G	38525660	3	3	66	1	0	0	0	0	1	0	0	0	1107	855	30	5	613	5	ATL2	2	38525660	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10		38525660	204673713	15	6370											
CLEC4F	165530	bcgsc.ca	37	chr2	71043461	71043461	+	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	gagtatctgtctggtccagaCggccatttgctttttgggtc	5	15	12	9	1	2	1	0	0	2	1	4	2	3	1	2	3	1	2	2	3	1	4	rs722896	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:71043461C>T	ENST00000272367.2	-	4	1128	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H	CLEC4F_ENST00000426626.1_Missense_Mutation_p.R351H	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	351			R -> H (in dbSNP:rs722896).		endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTGGTCCAGACGGCCATTTGC	0.403													C|||	1693	0.338059	0.1195	0.4006	5008	,	,		21626	0.5248		0.3101	False		,,,				2504	0.4254				Colon(107;10 2157 6841 26035)	.											0								C	HIS/ARG	739,3667	303.5+/-288.0	60,619,1524	86	83	84		1052	-5.1	0	2	dbSNP_86	84	2597,6003	421.6+/-353.8	431,1735,2134	yes	missense	CLEC4F	NM_173535.2	29	491,2354,3658	TT,TC,CC		30.1977,16.7726,25.6497	benign	351/590	71043461	3336,9670	2203	4300	6503	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1052G>A	2.37:g.71043461C>T	ENSP00000272367:p.Arg351His		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	753	0.3447802197802198	58	0.11788617886178862	124	0.3425414364640884	343	0.5996503496503497	228	0.3007915567282322	C	7.700	0.692882	0.15039	0.167726	0.301977	ENSG00000152672	ENST00000272367;ENST00000426626	D;D	0.82893	-1.66;-1.66	3.79	-5.05	0.02955	.	1.546170	0.04013	N	0.298500	T	0.00012	0.0000	N	0.04355	-0.22	0.80722	P	0.0	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.16600	-1.0397	9	0.13470	T	0.59	.	11.5395	0.50659	0.0:0.2236:0.0:0.7764	rs722896;rs59663124;rs722896	351;351	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	H	351	ENSP00000272367:R351H;ENSP00000390581:R351H	ENSP00000272367:R351H	R	-	2	0	CLEC4F	70896969	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	-1.034000	0.03567	-1.226000	0.02574	0.467000	0.42956	CGT		0.403	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		T	71043461	C	T	71043461	3	4	66	1	0	0	0	0	1	0	0	0	3516	536	19	1	733	1	CLEC4F	2	71043461	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	32517801	71043461	172155912	16	6371											
LBX2	85474	ucsc.edu;bcgsc.ca	37	chr2	74725178	74725178	+	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	agctgcacaggacttccgggGacaacgcgcgtagcgaggcg	9	4	16	12	6	0	0	0	0	0	0	1	3	1	2	1	4	4	3	1	4	2	2	rs17009998	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:74725178G>A	ENST00000377566.4	-	2	651	c.473C>T	c.(472-474)tCc>tTc	p.S158F	AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Missense_Mutation_p.S154F	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	158			S -> F (in dbSNP:rs17009998).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACTTCCGGGGACAACGCGCG	0.687													G|||	1668	0.333067	0.1399	0.2579	5008	,	,		15440	0.8204		0.1551	False		,,,				2504	0.3282					.											0								G	PHE/SER	662,3744	276.3+/-273.0	54,554,1595	49	48	48		461	3	0.2	2	dbSNP_123	48	1139,7459	227.9+/-263.1	77,985,3237	yes	missense	LBX2	NM_001009812.1	155	131,1539,4832	AA,AG,GG		13.2473,15.025,13.8496	probably-damaging	154/195	74725178	1801,11203	2203	4299	6502	SO:0001583	missense	85474			AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"Homeoboxes / ANTP class : NKL subclass"	15525	protein-coding gene	gene with protein product		607164	"ladybird homeobox homolog 2 (Drosophila)"			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.473C>T	2.37:g.74725178G>A	ENSP00000366789:p.Ser158Phe		Q7Z5Y8	Missense_Mutation	SNP	ENST00000377566.4	37		718	0.32875457875457875	63	0.12804878048780488	72	0.19889502762430938	471	0.8234265734265734	112	0.14775725593667546	G	15.19	2.759678	0.49468	0.15025	0.132473	ENSG00000179528	ENST00000377566;ENST00000460508	D;D	0.91945	-2.82;-2.94	4.76	2.95	0.34219	.	0.647217	0.13712	N	0.367991	T	0.00012	0.0000	L	0.29908	0.895	0.20563	P	0.999885927	B;B	0.12630	0.006;0.002	B;B	0.19148	0.024;0.002	T	0.44174	-0.9345	9	0.66056	D	0.02	.	7.3598	0.26739	0.0893:0.0:0.7431:0.1677	rs17009998;rs60339187;rs17009998	154;158	Q6XYB7-2;Q6XYB7	.;LBX2_HUMAN	F	158;154	ENSP00000366789:S158F;ENSP00000417116:S154F	ENSP00000366789:S158F	S	-	2	0	LBX2	74578686	0.000000	0.05858	0.178000	0.23040	0.034000	0.12701	0.297000	0.19101	0.605000	0.29947	0.561000	0.74099	TCC		0.687	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		A	74725178	G	A	74725178	3	1	66	1	0	0	0	0	1	0	0	0	8654	1174	41	3	127	3	LBX2	2	74725178	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	3681717	74725178	168474195	17	6372											
GPD2	2820	bcgsc.ca	37	chr2	157406249	157406249	+	Missense_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	cccccagacagggaaagtgcGtgtgagcggcgcacggtgca	9	4	16	12	4	0	2	0	1	0	1	0	3	0	3	2	3	3	2	2	3	1	0	rs2116665	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:157406249G>A	ENST00000310454.6	+	7	1163	c.791G>A	c.(790-792)cGt>cAt	p.R264H	GPD2_ENST00000409674.1_Missense_Mutation_p.R264H|GPD2_ENST00000438166.2_Missense_Mutation_p.R264H|GPD2_ENST00000409125.4_Missense_Mutation_p.R37H|GPD2_ENST00000540309.1_Missense_Mutation_p.R264H	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	264			R -> H (in dbSNP:rs2116665). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:7821823, ECO:0000269|PubMed:8549872, ECO:0000269|PubMed:8682323, ECO:0000269|PubMed:9110174, ECO:0000269|Ref.4, ECO:0000269|Ref.6, ECO:0000269|Ref.8}.		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)	p.R264H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GGGAAAGTGCGTGTGAGCGGC	0.522													G|||	3295	0.657947	0.4849	0.7032	5008	,	,		19139	0.7847		0.6889	False		,,,				2504	0.6973					.											1	Substitution - Missense(1)	stomach(1)	GRCh37	CM012769	GPD2	M	rs2116665	G	HIS/ARG,HIS/ARG	2093,2313	572.1+/-383.2	503,1087,613	66	63	64		791,791	3.2	0	2	dbSNP_96	64	6102,2498	694.7+/-404.8	2144,1814,342	yes	missense,missense	GPD2	NM_000408.4,NM_001083112.2	29,29	2647,2901,955	AA,AG,GG		29.0465,47.5034,36.9906	possibly-damaging,possibly-damaging	264/728,264/728	157406249	8195,4811	2203	4300	6503	SO:0001583	missense	2820				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.791G>A	2.37:g.157406249G>A	ENSP00000308610:p.Arg264His		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	1431	0.6552197802197802	228	0.4634146341463415	241	0.6657458563535912	441	0.7709790209790209	521	0.6873350923482849	G	7.674	0.687659	0.14973	0.475034	0.709535	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.91	3.17	0.36434	FAD dependent oxidoreductase (1);	0.321794	0.38436	N	0.001700	T	0.00012	0.0000	L	0.51422	1.61	0.29245	P	0.872348	B	0.17038	0.02	B	0.15484	0.013	T	0.34800	-0.9814	9	0.51188	T	0.08	.	10.1454	0.42760	0.2664:0.0:0.7336:0.0	rs2116665;rs2228475;rs17847134;rs17858516;rs2116665	264	P43304	GPDM_HUMAN	H	264;37;264;264;264	ENSP00000308610:R264H;ENSP00000386484:R37H;ENSP00000409708:R264H;ENSP00000440892:R264H;ENSP00000386425:R264H	ENSP00000308610:R264H	R	+	2	0	GPD2	157114495	0.930000	0.31532	0.004000	0.12327	0.333000	0.28666	1.958000	0.40402	0.412000	0.25729	0.650000	0.86243	CGT		0.522	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			A	157406249	G	A	157406249	3	1	66	1	0	0	0	0	1	0	0	0	6606	1145	40	1	813	1	GPD2	2	157406249	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	82681071	157406249	85793124	18	6373											
PPIG	9360	bcgsc.ca	37	chr2	170493677	170493677	+	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	gctcagagagagaagaaagtCaaagcagaaacaaagacaaa	23	2	10	6	0	2	5	2	0	0	5	2	7	2	5	0	0	2	2	0	0	6	0	rs78054206	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:170493677C>G	ENST00000260970.3	+	14	2129	c.1909C>G	c.(1909-1911)Caa>Gaa	p.Q637E	PPIG_ENST00000409714.3_Missense_Mutation_p.Q622E|PPIG_ENST00000448752.2_Missense_Mutation_p.Q637E	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	637	Arg/Ser-rich (RS domain).				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)	AGAAGAAAGTCAAAGCAGAAA	0.423													C|||	53	0.0105831	0.0378	0.0043	5008	,	,		19841	0		0	False		,,,				2504	0					.											0								C	GLU/GLN	127,4279	91.6+/-130.3	1,125,2077	69	70	70		1909	4.7	1	2	dbSNP_132	70	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PPIG	NM_004792.2	29	1,128,6374	GG,GC,CC		0.0349,2.8824,0.9995	benign	637/755	170493677	130,12876	2203	4300	6503	SO:0001583	missense	9360			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.1909C>G	2.37:g.170493677C>G	ENSP00000260970:p.Gln637Glu		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	CCDS2235.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	C	13.29	2.192937	0.38707	0.028824	3.49E-4	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.15834	2.39;2.39;2.39	5.6	4.73	0.59995	.	0.054301	0.85682	D	0.000000	T	0.01029	0.0034	L	0.27053	0.805	0.33842	D	0.631606	B;B;B	0.22800	0.075;0.075;0.075	B;B;B	0.19946	0.027;0.027;0.027	T	0.04115	-1.0976	10	0.87932	D	0	-24.8159	16.0895	0.81082	0.1352:0.8648:0.0:0.0	rs62652316	622;622;637	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	E	637;622;637	ENSP00000260970:Q637E;ENSP00000386245:Q622E;ENSP00000407083:Q637E	ENSP00000260970:Q637E	Q	+	1	0	PPIG	170201923	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.558000	0.60789	1.376000	0.46267	-0.189000	0.12847	CAA		0.423	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			G	170493677	C	G	170493677	3	3	66	1	0	0	0	0	1	0	0	0	12324	827	29	5	1955	5	PPIG	2	170493677	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	13087428	170493677	72705696	19	6374											
TTN	7273	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	179613962	179613962	+	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	tatttctttcttaatagtgaCatcactgaaatcatcaacaa	15	15	3	8	0	5	2	3	2	2	0	5	2	5	2	0	0	1	0	0	0	6	5	rs72648903	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:179613962C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.V4389I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATAGTGACATCACTGAAA	0.343													C|||	95	0.0189696	0.0703	0.0029	5008	,	,		19175	0		0	False		,,,				2504	0					.											0								C	,,ILE/VAL,,	221,4179	123.7+/-161.0	6,209,1985	57	62	60		,,13165,,	3.4	0	2	dbSNP_130	60	6,8586	3.7+/-12.6	0,6,4290	yes	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,29,,	6,215,6275	TT,TC,CC		0.0698,5.0227,1.7472	,,,,	,,4389/5605,,	179613962	227,12765	2200	4296	6496	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3888G>A	2.37:g.179613962C>T			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		35	0.016025641025641024	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	0	0.0	C	10.23	1.293061	0.23564	0.050227	6.98E-4	ENSG00000155657	ENST00000360870	T	0.60672	0.17	5.23	3.42	0.39159	.	.	.	.	.	T	0.04452	0.0122	N	0.24115	0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.02126	-1.1209	9	0.16420	T	0.52	.	13.5505	0.61730	0.0:0.8613:0.0:0.1387	.	4389	Q8WZ42-6	.	I	4389	ENSP00000354117:V4389I	ENSP00000354117:V4389I	V	-	1	0	TTN	179322207	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.120000	0.31271	0.434000	0.26340	-2.010000	0.00438	GTC		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179613962	C	T	179613962	1	4	66	0	1	0	0	0	0	0	0	0	16732	478	17	4		4	TTN	2	179613962	Intron	SNP	C	TCGA-KO-8417-01A-11D-2310-10	9120285	179613962	63585411	20	6375											
C2orf88	84281	bcgsc.ca	37	chr2	191064753	191064753	+	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	ggaacctccagggaccaataCtgtgatcttggaatatgcac	12	9	10	10	0	1	1	0	1	1	0	2	4	2	4	3	3	3	1	3	3	5	3	rs6753459	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:191064753C>T	ENST00000340623.4	+	2	578	c.167C>T	c.(166-168)aCt>aTt	p.T56I	C2orf88_ENST00000409870.1_Missense_Mutation_p.T56I|C2orf88_ENST00000443551.2_Missense_Mutation_p.T56I|C2orf88_ENST00000396974.2_Missense_Mutation_p.T56I	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	56	PKA-RI-binding.		T -> I (in dbSNP:rs6753459). {ECO:0000269|PubMed:15489334}.			plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GGGACCAATACTGTGATCTTG	0.458													T|||	1771	0.353634	0.5008	0.2752	5008	,	,		21385	0.4355		0.2435	False		,,,				2504	0.2393					.											0								T	ILE/THR,ILE/THR,ILE/THR,ILE/THR	1769,2189		415,939,625	189	191	191		167,167,167,167	-3	0	2	dbSNP_116	191	1970,6336		227,1516,2410	yes	missense,missense,missense,missense	C2orf88	NM_001042519.1,NM_001042520.1,NM_001042521.1,NM_032321.2	89,89,89,89	642,2455,3035	TT,TC,CC		23.7178,44.6943,30.4876	benign,benign,benign,benign	56/96,56/96,56/96,56/96	191064753	3739,8525	1979	4153	6132	SO:0001583	missense	84281			BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"small membrane AKAP"	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.167C>T	2.37:g.191064753C>T	ENSP00000345107:p.Thr56Ile		D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	CCDS42792.1	810	0.3708791208791209	246	0.5	103	0.2845303867403315	276	0.4825174825174825	185	0.24406332453825857	T	6.053	0.378138	0.11466	0.446943	0.237178	ENSG00000187699	ENST00000396974;ENST00000409545;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.31	-3.0	0.05480	.	1.022090	0.07888	N	0.970707	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.47711	-0.9096	7	.	.	.	0.2971	8.7611	0.34676	0.0:0.5139:0.114:0.3721	rs6753459;rs17845041;rs17857815;rs56561086;rs61523734;rs6753459	56	Q9BSF0	CB088_HUMAN	I	56	ENSP00000380172:T56I;ENSP00000386976:T56I;ENSP00000386649:T56I;ENSP00000345107:T56I;ENSP00000405225:T56I	.	T	+	2	0	C2orf88	190772998	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-0.951000	0.03654	-2.280000	0.00272	ACT		0.458	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		T	191064753	C	T	191064753	3	4	66	1	0	0	0	0	1	0	0	0	2202	565	20	4	169	4	C2orf88	2	191064753	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	11450791	191064753	52134620	21	6376											
COL4A4	1286	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	227924228	227924228	+	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	gaccaaatgcagggtctcccGggattcctttctgaccattc	8	11	9	13	1	2	1	0	1	2	0	5	3	3	2	4	2	1	1	4	2	1	3	rs36121515	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:227924228G>A	ENST00000396625.3	-	28	2483	c.2276C>T	c.(2275-2277)cCg>cTg	p.P759L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P759L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	759	Triple-helical region.		P -> L (in dbSNP:rs36121515).		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)		AGGGTCTCCCGGGATTCCTTT	0.612													G|||	132	0.0263578	0.0991	0.0014	5008	,	,		13983	0		0	False		,,,				2504	0					.											0								G	LEU/PRO	308,3354		15,278,1538	78	83	82		2276	5.1	0	2	dbSNP_126	82	5,8139		0,5,4067	yes	missense	COL4A4	NM_000092.4	98	15,283,5605	AA,AG,GG		0.0614,8.4107,2.6512	probably-damaging	759/1691	227924228	313,11493	1831	4072	5903	SO:0001583	missense	1286				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.2276C>T	2.37:g.227924228G>A	ENSP00000379866:p.Pro759Leu		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	46	0.021062271062271064	45	0.09146341463414634	1	0.0027624309392265192	0	0.0	0	0.0	G	20.4	3.975804	0.74360	0.084107	6.14E-4	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96685	-4.09;-4.09	5.99	5.09	0.68999	.	.	.	.	.	T	0.51227	0.1662	M	0.76838	2.35	0.40369	D	0.979327	P	0.48503	0.911	B	0.33121	0.158	T	0.73379	-0.4001	9	0.49607	T	0.09	.	12.3916	0.55362	0.081:0.0:0.919:0.0	rs36121515;rs61284557	759	P53420	CO4A4_HUMAN	L	759	ENSP00000379866:P759L;ENSP00000328553:P759L	ENSP00000328553:P759L	P	-	2	0	COL4A4	227632472	0.998000	0.40836	0.036000	0.18154	0.993000	0.82548	4.002000	0.57053	1.474000	0.48178	0.655000	0.94253	CCG		0.612	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227924228	G	A	227924228	3	1	66	1	0	0	0	0	1	0	0	0	3693	1116	39	1	2880	1	COL4A4	2	227924228	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	36859475	227924228	15275145	22	6377											
UGT1A9	54600	broad.mit.edu;hgsc.bcm.edu	37	chr2	234581245	234581245	+	Missense_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	ggaacatttattatgccaccGttttttcaaaaatgccctag	12	14	6	9	1	1	0	1	0	0	0	1	1	1	1	3	1	3	1	3	1	6	7			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:234581245G>A	ENST00000354728.4	+	1	747	c.665G>A	c.(664-666)cGt>cAt	p.R222H	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.R222H|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	222					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R222H(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TTATGCCACCGTTTTTTCAAA	0.428																																						.											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)											215	224	221					2																	234581245		2203	4300	6503	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.665G>A	2.37:g.234581245G>A	ENSP00000346768:p.Arg222His		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	4.521	0.096669	0.08681	.	.	ENSG00000241119	ENST00000354728	T	0.63913	-0.07	3.22	-5.2	0.02823	.	.	.	.	.	T	0.30823	0.0777	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19451	-1.0305	9	0.16420	T	0.52	.	1.2724	0.02024	0.3067:0.2019:0.0882:0.4033	.	222;222	Q5DSZ5;O60656	.;UD19_HUMAN	H	222	ENSP00000346768:R222H	ENSP00000346768:R222H	R	+	2	0	UGT1A9	234245984	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.600000	0.05693	-0.368000	0.08040	-0.760000	0.03462	CGT		0.428	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		A	234581245	G	A	234581245	3	1	66	1	0	0	0	0	1	0	0	0	16949	1145	40	1	667	1	UGT1A9	2	234581245	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	6657017	234581245	8618128	23	6378											
STK25	10494	broad.mit.edu;bcgsc.ca	37	chr2	242437048	242437048	+	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	cacctctccgaagacgggccGgaccagcgtggacaggcact	9	4	13	15	4	1	1	0	0	1	1	2	4	1	3	4	4	1	1	4	4	1	0	rs140408761		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr2:242437048G>A	ENST00000316586.4	-	10	1436	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	STK25_ENST00000401869.1_Missense_Mutation_p.R363W|STK25_ENST00000543554.1_Missense_Mutation_p.R269W|STK25_ENST00000405883.3_Missense_Mutation_p.R286W|STK25_ENST00000403346.3_Missense_Mutation_p.R363W|STK25_ENST00000535007.1_Missense_Mutation_p.R269W|STK25_ENST00000405585.1_Missense_Mutation_p.R286W|STK25_ENST00000478403.1_5'UTR	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	363					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)		AAGACGGGCCGGACCAGCGTG	0.657																																					NSCLC(99;1100 1566 7679 28647 48345)	.											0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	71	72	71		1087	3.4	1	2	dbSNP_134	71	0,8600		0,0,4300	no	missense	STK25	NM_006374.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	363/427	242437048	1,13005	2203	4300	6503	SO:0001583	missense	10494			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.1087C>T	2.37:g.242437048G>A	ENSP00000325748:p.Arg363Trp		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.86|16.86	3.240112|3.240112	0.58995|0.58995	2.27E-4|2.27E-4	0.0|0.0	ENSG00000115694|ENSG00000115694	ENST00000423004|ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007	.|T;T;T;T;T;T;T	.|0.38077	.|1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.17|5.17	3.37|3.37	0.38596|0.38596	.|.	.|0.318737	.|0.28630	.|N	.|0.014677	T|T	0.23094|0.23094	0.0558|0.0558	N|N	0.08118|0.08118	0|0	0.35762|0.35762	D|D	0.820274|0.820274	.|P;P;B	.|0.40398	.|0.716;0.716;0.41	.|B;P;B	.|0.44860	.|0.39;0.462;0.339	T|T	0.29640|0.29640	-1.0005|-1.0005	5|10	.|0.66056	.|D	.|0.02	.|.	8.2258|8.2258	0.31568|0.31568	0.0716:0.0:0.6497:0.2787|0.0716:0.0:0.6497:0.2787	.|.	.|289;286;363	.|B4DVS7;A8K6Z3;O00506	.|.;.;STK25_HUMAN	L|W	206|363;363;363;286;269;286;269;269	.|ENSP00000325748:R363W;ENSP00000384162:R363W;ENSP00000385687:R363W;ENSP00000384444:R286W;ENSP00000385541:R286W;ENSP00000444886:R269W;ENSP00000446008:R269W	.|ENSP00000325748:R363W	P|R	-|-	2|1	0|2	STK25|STK25	242085721|242085721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	3.009000|3.009000	0.49552|0.49552	0.692000|0.692000	0.31613|0.31613	-0.152000|-0.152000	0.13540|0.13540	CCG|CGG		0.657	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		A	242437048	G	A	242437048	3	1	66	1	0	0	0	0	1	0	0	0	15293	1115	39	1	205	1	STK25	2	242437048	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	7855803	242437048	762325	24	6379											
IMPDH2	54870	hgsc.bcm.edu	37	chr3	49065314	49065314	+	IGR	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	acgcgatccttggggctgagGaccacagggtctgtgatgaa	9	8	15	9	2	1	3	0	3	1	0	2	5	2	4	2	4	0	1	2	4	1	1	rs139765703		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr3:49065314G>A	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Silent_p.V120V|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							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)		TGGGGCTGAGGACCACAGGGT	0.537																																						.											0								G		2,4404	4.2+/-10.8	0,2,2201	60	54	56		360	3.2	1	3	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	IMPDH2	NM_000884.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		120/515	49065314	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	3615				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		3.37:g.49065314G>A			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314174	0.23908	4.54E-4	0.0	ENSG00000178035	ENST00000429182	.	.	.	5.94	3.18	0.36537	.	.	.	.	.	T	0.58864	0.2152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51926	-0.8643	4	.	.	.	-44.2625	9.3153	0.37930	0.1361:0.4861:0.3778:0.0	.	.	.	.	S	52	.	.	P	-	1	0	IMPDH2	49040318	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	0.434000	0.21494	0.407000	0.25591	-0.264000	0.10439	CCT		0.537	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		A	49065314	G	A	49065314	1	1	66	0	1	0	0	0	0	0	0	0	7727	1161	41	3		3	IMPDH2	3	49065314	IGR	SNP	G	TCGA-KO-8417-01A-11D-2310-10		49065314	148957116	25	6380											
LPP	4026	bcgsc.ca	37	chr3	188327555	188327555	+	Missense_Mutation	SNP	T	T	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	accagaaccctcctgggatgTatccagtcactggtcccaag	10	8	9	14	0	1	1	1	0	0	1	4	2	4	2	5	2	1	1	5	2	3	1	rs7645635	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr3:188327555T>C	ENST00000312675.4	+	6	1282	c.1036T>C	c.(1036-1038)Tat>Cat	p.Y346H	LPP_ENST00000543006.1_Missense_Mutation_p.Y346H|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.Y346H	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	346	Pro-rich.		Y -> H (in dbSNP:rs7645635).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCTGGGATGTATCCAGTCAC	0.522			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								T|||	1002	0.20008	0.7126	0.0764	5008	,	,		18753	0		0.005	False		,,,				2504	0.002					.		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	0								T	HIS/TYR,,HIS/TYR	2581,1825		769,1043,391	42	42	42		1036,,1036	6.2	0.9	3	dbSNP_116	42	34,8564		0,34,4265	yes	missense,intron,missense	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	83,,83	769,1077,4656	CC,CT,TT		0.3954,41.4208,20.1092	probably-damaging,,probably-damaging	346/613,,346/613	188327555	2615,10389	2203	4299	6502	SO:0001583	missense	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1036T>C	3.37:g.188327555T>C	ENSP00000318089:p.Tyr346His		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	360	0.16483516483516483	328	0.6666666666666666	28	0.07734806629834254	0	0.0	4	0.005277044854881266	T	16.16	3.043406	0.55003	0.585792	0.003954	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.54866	1.79;0.55;0.55;1.41	6.17	6.17	0.99709	.	0.188754	0.37348	N	0.002140	T	0.00012	0.0000	M	0.66939	2.045	0.22050	P	0.999392708	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.965	T	0.47611	-0.9104	9	0.15499	T	0.54	.	16.0034	0.80327	0.0:0.0:0.0:1.0	rs7645635;rs52823079;rs57290235;rs7645635	346;346	C9JUT4;Q93052	.;LPP_HUMAN	H	346;346;346;183	ENSP00000393602:Y346H;ENSP00000318089:Y346H;ENSP00000438891:Y346H;ENSP00000393008:Y183H	ENSP00000318089:Y346H	Y	+	1	0	LPP	189810249	1.000000	0.71417	0.850000	0.33497	0.194000	0.23727	5.358000	0.66064	2.371000	0.80710	0.533000	0.62120	TAT		0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		C	188327555	T	C	188327555	3	2	66	1	0	0	0	0	1	0	0	0	8923	1638	57	2	1050	2	LPP	3	188327555	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	139262241	188327555	9694875	26	6381											
POLN	353497	mdanderson.org	37	chr4	2175733	2175733	+	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	tctttgttcacctgaatggcAtggctttccatcactgtgat	7	16	8	10	0	3	2	2	2	1	0	4	2	4	2	2	2	0	3	2	2	1	3	rs2022302	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr4:2175733A>G	ENST00000511885.2	-	11	1676	c.1323T>C	c.(1321-1323)caT>caC	p.H441H	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.H441H			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	441					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)			CCTGAATGGCATGGCTTTCCA	0.418								DNA polymerases (catalytic subunits)					G|||	1612	0.321885	0.5703	0.2435	5008	,	,		24761	0.373		0.1243	False		,,,				2504	0.1922					.											0								G		2221,2185	586.4+/-386.5	581,1059,563	270	231	244		1323	-0.9	0	4	dbSNP_94	244	995,7605	773.9+/-407.7	60,875,3365	no	coding-synonymous	POLN	NM_181808.2		641,1934,3928	GG,GA,AA		11.5698,49.5915,24.727		441/901	2175733	3216,9790	2203	4300	6503	SO:0001819	synonymous_variant	353497			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.1323T>C	4.37:g.2175733A>G			A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	CCDS3360.1	677	0.309981684981685	281	0.5711382113821138	91	0.2513812154696133	210	0.36713286713286714	95	0.12532981530343007	G	0.009	-1.809418	0.00606	0.504085	0.115698	ENSG00000130997	ENST00000511098	.	.	.	4.28	-0.849	0.10723	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.51012	P	9.80000000000425E-5	.	.	.	.	.	.	T	0.46400	-0.9194	3	.	.	.	-3.7462	9.2076	0.37298	0.5601:0.0:0.4399:0.0	rs2022302;rs61574681;rs2022302	.	.	.	T	75	.	.	M	-	2	0	POLN	2145531	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-1.618000	0.02049	-0.617000	0.05664	-2.725000	0.00131	ATG		0.418	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		G	2175733	A	G	2175733	2	3	66	1	0	0	0	0	0	0	0	1	12207	214	8	4		4	POLN	4	2175733	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10		2175733	188978543	27	6382											
SLIT2	9353	mdanderson.org	37	chr4	20535317	20535317	+	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	gcagcataagatgttcaaggGattggaaagcctcaaaactt	15	9	10	7	0	2	1	2	0	0	1	2	3	2	3	1	2	3	3	1	2	5	4			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr4:20535317G>C	ENST00000504154.1	+	18	2063	c.1811G>C	c.(1810-1812)gGa>gCa	p.G604A	SLIT2_ENST00000503837.1_Missense_Mutation_p.G600A|SLIT2_ENST00000273739.5_Missense_Mutation_p.G608A|SLIT2_ENST00000503823.1_Missense_Mutation_p.G596A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	604					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						ATGTTCAAGGGATTGGAAAGC	0.383																																						.											0													159	158	158					4																	20535317		2203	4300	6503	SO:0001583	missense	9353			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.1811G>C	4.37:g.20535317G>C	ENSP00000422591:p.Gly604Ala		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822940	0.90873	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.967	T	0.61912	-0.6965	10	0.87932	D	0	.	18.4759	0.90792	0.0:0.0:1.0:0.0	.	596;604	O94813-3;O94813	.;SLIT2_HUMAN	A	596;604;608;600;600	ENSP00000427548:G596A;ENSP00000422591:G604A;ENSP00000273739:G608A;ENSP00000422261:G600A	ENSP00000273739:G608A	G	+	2	0	SLIT2	20144415	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.745000	0.98856	2.366000	0.80165	0.561000	0.74099	GGA		0.383	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20535317	G	C	20535317	3	2	66	1	0	0	0	0	1	0	0	0	14740	1174	41	5	1881	5	SLIT2	4	20535317	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	18359584	20535317	170618959	28	6383											
BBS12	166379	broad.mit.edu;mdanderson.org	37	chr4	123663688	123663688	+	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	agcagataacaacacatcacGaactctgaaaaacagcctgc	18	5	6	12	1	2	2	1	1	1	1	2	3	2	2	1	0	7	1	1	0	5	1			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr4:123663688G>A	ENST00000314218.3	+	2	834	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	BBS12_ENST00000542236.1_Missense_Mutation_p.R214Q	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	214					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACACATCACGAACTCTGAAA	0.398									Bardet-Biedl syndrome																													.											0													76	77	77					4																	123663688		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.641G>A	4.37:g.123663688G>A	ENSP00000319062:p.Arg214Gln		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.467434	0.01053	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.67171	-0.25;-0.25	4.99	-2.79	0.05841	.	0.380610	0.26911	N	0.021862	T	0.21590	0.0520	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	10	0.02654	T	1	-15.624	2.5248	0.04689	0.4039:0.3436:0.1412:0.1113	.	214	Q6ZW61	BBS12_HUMAN	Q	214	ENSP00000319062:R214Q;ENSP00000438273:R214Q	ENSP00000319062:R214Q	R	+	2	0	BBS12	123883138	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	0.181000	0.16880	-0.294000	0.08973	-0.451000	0.05528	CGA		0.398	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		A	123663688	G	A	123663688	3	1	66	1	0	0	0	0	1	0	0	0	1337	1058	37	1	643	1	BBS12	4	123663688	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	103128371	123663688	67490588	29	6384											
HCN1	348980	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	45396746	45396746	+	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	tggggcttgggctccataccCaatgcacagcatgtgactca	9	9	11	12	0	1	1	1	1	0	0	2	1	2	1	2	3	3	4	2	3	2	2			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:45396746C>G	ENST00000303230.4	-	4	1135	c.1078G>C	c.(1078-1080)Ggg>Cgg	p.G360R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	360					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						GCTCCATACCCAATGCACAGC	0.483																																						.											0													107	93	98					5																	45396746		2203	4300	6503	SO:0001583	missense	348980			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.1078G>C	5.37:g.45396746C>G	ENSP00000307342:p.Gly360Arg			Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965322	0.92855	.	.	ENSG00000164588	ENST00000303230	D	0.99888	-7.54	5.18	5.18	0.71444	Ion transport (1);	0.186326	0.36101	N	0.002787	D	0.99919	0.9962	H	0.95365	3.66	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.96259	0.9189	10	0.87932	D	0	.	18.8829	0.92364	0.0:1.0:0.0:0.0	.	360	O60741	HCN1_HUMAN	R	360	ENSP00000307342:G360R	ENSP00000307342:G360R	G	-	1	0	HCN1	45432503	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.651000	0.83577	2.705000	0.92388	0.650000	0.86243	GGG		0.483	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		G	45396746	C	G	45396746	3	3	66	1	0	0	0	0	1	0	0	0	6996	594	21	5	1614	5	HCN1	5	45396746	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10		45396746	135518514	30	6385											
CATSPER3	347732	bcgsc.ca	37	chr5	134343766	134343766	+	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	ctgtttggatctccagacaaTggtgaccatgataactgggg	10	11	12	8	0	1	3	0	2	1	1	2	4	1	4	2	4	1	1	2	4	2	2	rs3896260	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:134343766T>G	ENST00000282611.6	+	4	698	c.612T>G	c.(610-612)aaT>aaG	p.N204K		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	204			N -> K (in dbSNP:rs3896260).		calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCAGACAATGGTGACCATG	0.552													G|||	646	0.128994	0.4584	0.0461	5008	,	,		15472	0		0.007	False		,,,				2504	0.001					.											0								G	LYS/ASN	1758,2648	644.5+/-398.0	347,1064,792	184	145	158		612	-2.1	0	5	dbSNP_108	158	24,8576	818.1+/-406.9	0,24,4276	yes	missense	CATSPER3	NM_178019.2	94	347,1088,5068	GG,GT,TT		0.2791,39.9001,13.7014	benign	204/399	134343766	1782,11224	2203	4300	6503	SO:0001583	missense	347732			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.612T>G	5.37:g.134343766T>G	ENSP00000282611:p.Asn204Lys		Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	241	0.11034798534798534	221	0.4491869918699187	17	0.04696132596685083	0	0.0	3	0.00395778364116095	G	0.003	-2.468589	0.00169	0.399001	0.002791	ENSG00000152705	ENST00000282611	D	0.97553	-4.43	4.33	-2.08	0.07254	Ion transport (1);	1.918400	0.01976	N	0.044466	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.50440	-0.8828	8	.	.	.	1.4415	0.1834	0.00126	0.2523:0.1883:0.202:0.3574	rs3896260;rs52815255;rs60117234;rs3896260	204	Q86XQ3	CTSR3_HUMAN	K	204	ENSP00000282611:N204K	.	N	+	3	2	CATSPER3	134371665	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.154000	0.03166	-0.973000	0.03555	-0.358000	0.07595	AAT		0.552	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		G	134343766	T	G	134343766	3	3	66	1	0	0	0	0	1	0	0	0	2689	1461	51	5	626	5	CATSPER3	5	134343766	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	88947020	134343766	46571494	31	6386											
PCDHA6	56142	mdanderson.org	37	chr5	140207965	140207965	+	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	tcgaccgcgaggagctgtgcGggcggagcgcggagtgcagc	6	4	20	11	7	0	0	0	0	0	0	1	5	0	3	1	4	5	2	1	4	0	0	rs150162226	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:140207965G>C	ENST00000529310.1	+	1	403	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G97R|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	97	Cadherin 1. {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)			GGAGCTGTGCGGGCGGAGCGC	0.577																																						.											0													111	127	121					5																	140207965		2203	4291	6494	SO:0001583	missense	56142			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.289G>C	5.37:g.140207965G>C	ENSP00000433378:p.Gly97Arg		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098477	0.20552	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.30981	1.51;1.51	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.213176	0.22539	U	0.058753	T	0.37945	0.1022	M	0.70595	2.14	0.26008	N	0.98203	D;P;P	0.56287	0.975;0.915;0.791	P;P;P	0.46389	0.515;0.49;0.51	T	0.34625	-0.9821	10	0.51188	T	0.08	.	12.2854	0.54789	0.0:0.1713:0.8287:0.0	.	97;97;97	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	97	ENSP00000433378:G97R;ENSP00000434113:G97R	ENSP00000434113:G97R	G	+	1	0	PCDHA6	140188149	0.984000	0.35163	1.000000	0.80357	0.243000	0.25628	5.505000	0.66981	2.139000	0.66308	0.313000	0.20887	GGG		0.577	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		C	140207965	G	C	140207965	3	2	66	1	0	0	0	0	1	0	0	0	11528	1116	39	5	291	5	PCDHA6	5	140207965	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	5864199	140207965	40707295	32	6387											
PCDH12	51294	hgsc.bcm.edu	37	chr5	141324954	141324954	+	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	tctgaggtatgttcacaggcAcctgctgctgctgctgctgc	5	12	12	12	0	2	1	1	1	1	0	2	1	2	1	1	2	6	8	1	2	1	2	rs200120809		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:141324954A>T	ENST00000231484.3	-	4	4757	c.3547T>A	c.(3547-3549)Tgc>Agc	p.C1183S		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1183					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)			GTTCACAGGCACctgctgctg	0.562																																						.											0													22	23	23					5																	141324954		2201	4290	6491	SO:0001583	missense	51294			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.3547T>A	5.37:g.141324954A>T	ENSP00000231484:p.Cys1183Ser		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	2.539	-0.306764	0.05458	.	.	ENSG00000113555	ENST00000231484	T	0.48836	0.8	5.54	3.42	0.39159	.	0.703549	0.13113	N	0.412850	T	0.22666	0.0547	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.19745	-1.0296	10	0.20046	T	0.44	.	3.9309	0.09285	0.3566:0.4726:0.0:0.1708	.	1183	Q9NPG4	PCD12_HUMAN	S	1183	ENSP00000231484:C1183S	ENSP00000231484:C1183S	C	-	1	0	PCDH12	141305138	0.000000	0.05858	0.112000	0.21494	0.305000	0.27757	0.199000	0.17237	0.589000	0.29677	0.533000	0.62120	TGC		0.562	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		T	141324954	A	T	141324954	3	4	66	1	0	0	0	0	1	0	0	0	11510	159	6	5	11	5	PCDH12	5	141324954	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	1116989	141324954	39590306	33	6388											
SOX30	11063	broad.mit.edu	37	chr5	157078493	157078493	+	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	gccgggcttttgcctgccccGccttgcatcgagtctctcat	3	12	10	16	3	2	0	1	0	1	0	4	1	2	0	5	1	3	2	5	1	0	3	rs371262922		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:157078493G>A	ENST00000265007.6	-	1	935	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Silent_p.G198G	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	198					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCCCCGCCTTGCATCG	0.657																																					Esophageal Squamous(31;525 799 19355 21125 41744)	.											0													64	75	71					5																	157078493		2197	4289	6486	SO:0001819	synonymous_variant	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.594C>T	5.37:g.157078493G>A			O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	CCDS4339.1																																																																																				0.657	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		A	157078493	G	A	157078493	2	1	66	1	0	0	0	0	0	0	0	1	14952	1074	38	1		1	SOX30	5	157078493	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	15753539	157078493	23836767	34	6389											
CDHR2	54825	mdanderson.org	37	chr5	175992370	175992370	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggcccagctatggcTgtcctgcttcctccttcctg	3	14	10	14	0	0	1	0	1	0	0	4	1	4	1	5	2	2	3	5	2	1	3	rs114786529	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:175992370T>C	ENST00000510636.1	+	2	291	c.17T>C	c.(16-18)cTg>cCg	p.L6P	CDHR2_ENST00000506348.1_Missense_Mutation_p.L6P|CDHR2_ENST00000261944.5_Missense_Mutation_p.L6P	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	6					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						CAGCTATGGCTGTCCTGCTTC	0.617													T|||	41	0.0081869	0.0272	0.0072	5008	,	,		20034	0		0	False		,,,				2504	0					.											0								T	PRO/LEU,PRO/LEU	83,4323	72.0+/-110.0	0,83,2120	185	141	156		17,17	4.4	1	5	dbSNP_132	156	17,8583	12.6+/-44.7	0,17,4283	yes	missense,missense	CDHR2	NM_001171976.1,NM_017675.4	98,98	0,100,6403	CC,CT,TT		0.1977,1.8838,0.7689	probably-damaging,probably-damaging	6/1311,6/1311	175992370	100,12906	2203	4300	6503	SO:0001583	missense	54825			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.17T>C	5.37:g.175992370T>C	ENSP00000424565:p.Leu6Pro		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	22	0.010073260073260074	20	0.04065040650406504	2	0.0055248618784530384	0	0.0	0	0.0	T	12.99	2.102143	0.37048	0.018838	0.001977	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.57436	0.4;0.4;0.4	4.36	4.36	0.52297	.	.	.	.	.	T	0.28001	0.0690	L	0.38838	1.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.50550	-0.8815	9	0.62326	D	0.03	-15.2557	10.1165	0.42593	0.0:0.0:0.0:1.0	.	6	Q9BYE9	CDHR2_HUMAN	P	6	ENSP00000424565:L6P;ENSP00000261944:L6P;ENSP00000421078:L6P	ENSP00000261944:L6P	L	+	2	0	CDHR2	175924976	1.000000	0.71417	0.994000	0.49952	0.126000	0.20510	1.468000	0.35332	1.962000	0.57031	0.459000	0.35465	CTG		0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		C	175992370	T	C	175992370	3	2	66	1	0	0	0	0	1	0	0	0	3119	1580	55	2	19	2	CDHR2	5	175992370	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	18913877	175992370	4922890	35	6390											
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr5	178580530	178580530	+	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	gcccaggccgaagtcaaagcGgcattgctcgttcatggagt	9	8	13	11	3	2	0	2	0	0	0	3	2	2	1	2	3	2	3	2	3	2	2			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr5:178580530G>A	ENST00000251582.7	-	9	1578	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.R493C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	493	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)		AAGTCAAAGCGGCATTGCTCG	0.662																																						.											0													76	59	65					5																	178580530		2202	4300	6502	SO:0001583	missense	9509			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.1477C>T	5.37:g.178580530G>A	ENSP00000251582:p.Arg493Cys			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125084	0.77436	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.71103	-0.54;-0.54	4.58	3.69	0.42338	Metallopeptidase, catalytic domain (1);	0.105625	0.42548	D	0.000696	D	0.84857	0.5565	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.86522	0.1816	10	0.87932	D	0	.	11.2801	0.49188	0.0:0.0:0.6691:0.3309	.	493;493	O95450-2;O95450	.;ATS2_HUMAN	C	493	ENSP00000251582:R493C;ENSP00000274609:R493C	ENSP00000251582:R493C	R	-	1	0	ADAMTS2	178513136	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.578000	0.82498	1.000000	0.39049	0.462000	0.41574	CGC		0.662	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178580530	G	A	178580530	3	1	66	1	0	0	0	0	1	0	0	0	265	1116	39	1	2289	1	ADAMTS2	5	178580530	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	2588160	178580530	2334730	36	6391											
HLA-C	3107	mdanderson.org	37	chr6	31238859	31238859	+	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	gcccctggtacctgcgcgctGcagcgtctccttcccgttct	2	11	10	18	4	2	0	0	0	2	0	4	0	3	0	5	1	4	4	5	1	1	3	rs41555616		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr6:31238859G>C	ENST00000376228.5	-	3	624	c.610C>G	c.(610-612)Cag>Gag	p.Q204E	HLA-C_ENST00000383329.3_Missense_Mutation_p.Q204E	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	204	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)			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						CCTGCGCGCTGCAGCGTCTCC	0.657																																						.											0													51	44	46					6																	31238859		2202	4300	6502	SO:0001583	missense	3107			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.610C>G	6.37:g.31238859G>C	ENSP00000365402:p.Gln204Glu		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.911|7.911	0.736528|0.736528	0.15574|0.15574	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00008	.|9.55;9.55	2.55|2.55	1.64|1.64	0.23874|0.23874	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|2.663580	.|0.02242	.|U	.|0.065850	T|T	0.00039|0.00039	0.0001|0.0001	L|L	0.50847|0.50847	1.595|1.595	0.24729|0.24729	N|N	0.993107|0.993107	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.0;0.0;0.002	T|T	0.46428|0.46428	-0.9192|-0.9192	5|10	.|0.72032	.|D	.|0.01	.|.	5.1171|5.1171	0.14840|0.14840	0.0:0.2329:0.529:0.2381|0.0:0.2329:0.529:0.2381	rs41555616|rs41555616	.|204;204;204;204	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	G|E	203|204;204;204;241	.|ENSP00000365402:Q204E;ENSP00000372819:Q204E	.|ENSP00000365402:Q204E	A|Q	-|-	2|1	0|0	HLA-C|HLA-C	31346838|31346838	0.867000|0.867000	0.29959|0.29959	0.825000|0.825000	0.32803|0.32803	0.053000|0.053000	0.15095|0.15095	1.230000|1.230000	0.32612|0.32612	0.606000|0.606000	0.29965|0.29965	0.305000|0.305000	0.20034|0.20034	GCA|CAG		0.657	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31238859	G	C	31238859	3	2	66	1	0	0	0	0	1	0	0	0	7197	1328	46	5	514	5	HLA-C	6	31238859	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10		31238859	139876208	37	6392											
HLA-DRB1	3123	mdanderson.org	37	chr6	32548534	32548534	+	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	gctcctcacctttctgattcCtgaagtagatgaacagcccg	9	11	8	13	1	2	4	1	3	1	1	4	4	4	4	4	0	2	2	4	0	3	3	rs71547382		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr6:32548534C>T	ENST00000360004.5	-	4	857	c.752G>A	c.(751-753)aGg>aAg	p.R251K		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	251					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)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TTTCTGATTCCTGAAGTAGAT	0.537										Multiple Myeloma(14;0.17)																												.											0																																										SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.752G>A	6.37:g.32548534C>T	ENSP00000353099:p.Arg251Lys		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.976489	0.34848	.	.	ENSG00000196126	ENST00000360004	T	0.00635	6.06	3.98	1.66	0.24008	.	0.334220	0.32578	N	0.005907	T	0.00241	0.0007	L	0.33710	1.025	0.28819	N	0.897785	B;B;B	0.18166	0.026;0.026;0.0	B;B;B	0.17979	0.02;0.02;0.001	T	0.44757	-0.9307	10	0.38643	T	0.18	.	6.6584	0.23000	0.0:0.6946:0.0:0.3054	.	251;251;251	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	K	251	ENSP00000353099:R251K	ENSP00000353099:R251K	R	-	2	0	HLA-DRB1	32656512	0.000000	0.05858	0.929000	0.37066	0.845000	0.48019	-0.186000	0.09670	0.802000	0.34089	0.453000	0.30009	AGG		0.537	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32548534	C	T	32548534	3	4	66	1	0	0	0	0	1	0	0	0	7208	681	24	4	60	4	HLA-DRB1	6	32548534	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	1309675	32548534	138566533	38	6393											
CAPN11	11131	hgsc.bcm.edu;bcgsc.ca	37	chr6	44137081	44137081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccggctcaaggccaaggGcgtgggccagcacgacaacg	10	2	15	14	4	1	0	1	0	0	0	1	1	1	0	3	4	3	2	3	4	3	0			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr6:44137081G>T	ENST00000398776.1	+	3	190	c.152G>T	c.(151-153)gGc>gTc	p.G51V	CAPN11_ENST00000542245.1_Missense_Mutation_p.G51V	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	51					proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGGCCAAGGGCGTGGGCCAG	0.507																																						.											0													40	42	41					6																	44137081		1926	4136	6062	SO:0001583	missense	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.152G>T	6.37:g.44137081G>T	ENSP00000381758:p.Gly51Val		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976740	0.53720	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;T	0.97209	-4.29;-4.29;0.98	4.1	4.1	0.47936	.	0.138591	0.33691	N	0.004649	D	0.97720	0.9252	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97601	1.0123	10	0.52906	T	0.07	.	16.5907	0.84764	0.0:0.0:1.0:0.0	.	51	Q9UMQ6	CAN11_HUMAN	V	51;51;81	ENSP00000381758:G51V;ENSP00000441078:G51V;ENSP00000432420:G81V	ENSP00000381758:G51V	G	+	2	0	CAPN11	44245059	1.000000	0.71417	0.540000	0.28089	0.016000	0.09150	7.713000	0.84693	2.574000	0.86865	0.650000	0.86243	GGC		0.507	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			T	44137081	G	T	44137081	3	4	66	1	0	0	0	0	1	0	0	0	2624	1203	42	5	162	5	CAPN11	6	44137081	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	11588547	44137081	126977986	39	6394											
ANKMY2	57037	ucsc.edu	37	chr7	16642116	16642116	+	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	ccagtgtgttttctggcaggTttgatcacaatatattacct	9	16	8	8	0	2	1	1	1	1	0	2	1	2	1	2	2	1	3	2	2	4	6			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr7:16642116T>G	ENST00000306999.2	-	9	1273	c.1030A>C	c.(1030-1032)Acc>Ccc	p.T344P		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	344						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCTGGCAGGTTTGATCACAA	0.363																																						.											0													142	139	140					7																	16642116		2201	4300	6501	SO:0001583	missense	57037			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1030A>C	7.37:g.16642116T>G	ENSP00000303570:p.Thr344Pro		A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	T	9.066	0.995639	0.19043	.	.	ENSG00000106524	ENST00000306999	T	0.71341	-0.56	5.27	2.84	0.33178	Zinc finger, MYND-type (3);	0.409722	0.30930	N	0.008582	T	0.62109	0.2401	L	0.52011	1.625	0.22771	N	0.998754	B	0.34349	0.45	B	0.35278	0.199	T	0.50162	-0.8860	10	0.36615	T	0.2	0.0514	9.3128	0.37915	0.1121:0.066:0.0:0.8219	.	344	Q8IV38	ANKY2_HUMAN	P	344	ENSP00000303570:T344P	ENSP00000303570:T344P	T	-	1	0	ANKMY2	16608641	0.996000	0.38824	0.983000	0.44433	0.849000	0.48306	1.904000	0.39868	0.008000	0.14787	-2.866000	0.00100	ACC		0.363	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		G	16642116	T	G	16642116	3	3	66	1	0	0	0	0	1	0	0	0	635	1725	60	5	303	5	ANKMY2	7	16642116	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		16642116	142496547	40	6395											
PPP1R9A	55607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr7	94827677	94827677	+	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	acagatttgttattgggcggGaaaaaccaggacaagtgagc	14	8	13	6	1	0	2	0	1	0	1	0	4	0	4	1	3	2	1	1	3	4	3			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr7:94827677G>A	ENST00000433881.1	+	6	2303	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E591K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E591K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E591K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E591K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E591K|AC002429.5_ENST00000417881.2_RNA			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	591	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		p.E591*(2)		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)			TATTGGGCGGGAAAAACCAGG	0.448										HNSCC(28;0.073)																												.											2	Substitution - Nonsense(2)	lung(2)											77	78	78					7																	94827677		2203	4300	6503	SO:0001583	missense	55607			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.1771G>A	7.37:g.94827677G>A	ENSP00000398870:p.Glu591Lys		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048562	0.75846	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	5.61	5.61	0.85477	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	L	0.41632	1.29	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;0.998;0.998	D;D;D;D;D	0.85130	0.978;0.997;0.997;0.973;0.986	T	0.54536	-0.8279	10	0.87932	D	0	.	20.0173	0.97481	0.0:0.0:1.0:0.0	.	591;591;591;591;591	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	591	ENSP00000405514:E591K;ENSP00000344524:E591K;ENSP00000411342:E591K;ENSP00000398870:E591K;ENSP00000289495:E591K;ENSP00000402893:E591K	ENSP00000289495:E591K	E	+	1	0	PPP1R9A	94665613	1.000000	0.71417	0.998000	0.56505	0.038000	0.13279	9.718000	0.98758	2.814000	0.96858	0.591000	0.81541	GAA		0.448	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		A	94827677	G	A	94827677	3	1	66	1	0	0	0	0	1	0	0	0	12378	1175	41	3	1789	3	PPP1R9A	7	94827677	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	78185561	94827677	64310986	41	6396											
DEFA6	1671	hgsc.bcm.edu	37	chr8	6783459	6783459	+	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	tcctgggcatcagcctcataAgcttttgcctgcagtggatc	7	12	10	12	0	2	0	2	0	0	0	4	1	3	1	3	2	4	3	3	2	1	3	rs13439322	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:6783459A>C	ENST00000297436.2	-	1	139	c.99T>G	c.(97-99)gcT>gcG	p.A33A	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	33					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CAGCCTCATAAGCTTTTGCCT	0.557													a|||	259	0.0517173	0.1899	0.0101	5008	,	,		21955	0.001		0	False		,,,				2504	0					.											0								A		731,3675		66,599,1538	67	54	59		99	0.6	0	8	dbSNP_121	59	5,8595		0,5,4295	no	coding-synonymous	DEFA6	NM_001926.3		66,604,5833	CC,CA,AA		0.0581,16.591,5.6589		33/101	6783459	736,12270	2203	4300	6503	SO:0001819	synonymous_variant	1671			M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"Defensins, alpha"	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.99T>G	8.37:g.6783459A>C			Q6EZF9	Silent	SNP	ENST00000297436.2	37	CCDS5960.1																																																																																				0.557	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		C	6783459	A	C	6783459	2	2	66	1	0	0	0	0	0	0	0	1	4393	59	3	5		5	DEFA6	8	6783459	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10		6783459	139580563	42	6397											
EBF2	64641	bcgsc.ca	37	chr8	25708131	25708131	+	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	tctgaatccatttccattgcCgctggagcaggcaggtgaag	9	10	12	10	1	1	2	0	2	1	0	3	3	3	3	3	3	2	3	3	3	2	2	rs17054477	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:25708131C>T	ENST00000520164.1	-	15	2212	c.1675G>A	c.(1675-1677)Ggc>Agc	p.G559S	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.G411S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	559			G -> S (in dbSNP:rs17054477).		adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTTCCATTGCCGCTGGAGCAG	0.488													C|||	192	0.0383387	0.1377	0.0101	5008	,	,		20848	0.001		0	False		,,,				2504	0.002				Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	.											0								C	SER/GLY	378,3518		19,340,1589	129	126	127		1675	5.4	1	8	dbSNP_123	127	28,8236		0,28,4104	yes	missense	EBF2	NM_022659.2	56	19,368,5693	TT,TC,CC		0.3388,9.7023,3.3388	benign	559/576	25708131	406,11754	1948	4132	6080	SO:0001583	missense	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1675G>A	8.37:g.25708131C>T	ENSP00000430241:p.Gly559Ser		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	83	0.038003663003663	77	0.1565040650406504	4	0.011049723756906077	2	0.0034965034965034965	0	0.0	C	11.94	1.788711	0.31685	0.097023	0.003388	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.40756	1.02;1.02	5.45	5.45	0.79879	.	0.181162	0.48286	D	0.000190	T	0.00073	0.0002	N	0.02247	-0.625	0.09310	P	1.0	B	0.02656	0.0	B	0.04013	0.001	T	0.10683	-1.0619	9	0.19590	T	0.45	-17.0497	14.4976	0.67700	0.1468:0.8532:0.0:0.0	rs17054477;rs52802933;rs17054477	559	Q9HAK2	COE2_HUMAN	S	559;411	ENSP00000430241:G559S;ENSP00000386178:G411S	ENSP00000386178:G411S	G	-	1	0	EBF2	25764048	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.857000	0.55972	2.714000	0.92807	0.563000	0.77884	GGC		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		T	25708131	C	T	25708131	3	4	66	1	0	0	0	0	1	0	0	0	4881	652	23	1	60	1	EBF2	8	25708131	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	18924672	25708131	120655891	43	6398											
PCMTD1	115294	mdanderson.org	37	chr8	52733214	52733214	+	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	tgcatctcatcatttatgaaAtttctaagtgtgcgtcgaat	11	16	7	7	2	3	1	2	1	2	0	5	2	3	1	0	0	2	1	0	0	4	4	rs200377849		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:52733214A>C	ENST00000360540.5	-	7	1177	c.771T>G	c.(769-771)aaT>aaG	p.N257K	PCMTD1_ENST00000522514.1_Missense_Mutation_p.N257K|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.N181K	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	257						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.N257K(1)		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)				CATTTATGAAATTTCTAAGTG	0.388																																						.											1	Substitution - Missense(1)	skin(1)											78	81	80					8																	52733214		2203	4300	6503	SO:0001583	missense	115294				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.771T>G	8.37:g.52733214A>C	ENSP00000353739:p.Asn257Lys		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.991059	0.35131	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.47528	0.84;0.84;0.84	5.56	-0.996	0.10218	.	0.046341	0.85682	D	0.000000	T	0.38983	0.1061	N	0.20530	0.585	0.53005	D	0.999961	P;D;B	0.65815	0.651;0.995;0.002	B;P;B	0.60886	0.122;0.88;0.002	T	0.41556	-0.9502	10	0.02654	T	1	-22.28	11.477	0.50304	0.3747:0.0:0.6253:0.0	.	127;181;257	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	K	257;181;257	ENSP00000353739:N257K;ENSP00000444026:N181K;ENSP00000428099:N257K	ENSP00000353739:N257K	N	-	3	2	PCMTD1	52895767	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.249000	0.51437	-0.122000	0.11766	-0.250000	0.11733	AAT		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		C	52733214	A	C	52733214	3	2	66	1	0	0	0	0	1	0	0	0	11586	98	4	5	306	5	PCMTD1	8	52733214	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	27025083	52733214	93630808	44	6399											
C8orf47	203111	hgsc.bcm.edu	37	chr8	99102105	99102105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatgaatgatccattccAtaaaactcctgaaggtccag	13	12	7	9	0	0	3	0	3	0	0	4	3	4	3	4	1	1	1	4	1	5	3	rs11994440	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:99102105A>G	ENST00000318528.3	+	2	1219	c.860A>G	c.(859-861)cAt>cGt	p.H287R	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		287	Glu-rich.		H -> R (in dbSNP:rs11994440).							kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GATCCATTCCATAAAACTCCT	0.443													A|||	124	0.0247604	0.0908	0.0058	5008	,	,		22739	0		0	False		,,,				2504	0					.											0								A	,ARG/HIS	390,4016	195.3+/-220.0	26,338,1839	101	93	96		,860	-3.2	0	8	dbSNP_120	96	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	C8orf47	NM_001170806.1,NM_173549.2	,29	26,340,6137	GG,GA,AA		0.0233,8.8516,3.014	,benign	,287/375	99102105	392,12614	2203	4300	6503	SO:0001583	missense	203111																														ENST00000318528.3:c.860A>G	8.37:g.99102105A>G	ENSP00000315614:p.His287Arg		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	CCDS34929.1	50	0.022893772893772892	48	0.0975609756097561	2	0.0055248618784530384	0	0.0	0	0.0	A	4.333	0.061136	0.08339	0.088516	2.33E-4	ENSG00000177459	ENST00000318528	T	0.22134	1.97	5.13	-3.19	0.05171	.	1.083140	0.07108	N	0.841664	T	0.00468	0.0015	M	0.63428	1.95	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.33497	-0.9866	10	0.21014	T	0.42	-19.7838	5.9982	0.19505	0.2438:0.321:0.4352:0.0	rs11994440;rs52793077;rs57265963;rs11994440	287	Q6P6B1	CH047_HUMAN	R	287	ENSP00000315614:H287R	ENSP00000315614:H287R	H	+	2	0	C8orf47	99171281	0.003000	0.15002	0.000000	0.03702	0.026000	0.11368	0.598000	0.24074	-0.430000	0.07318	-0.250000	0.11733	CAT		0.443	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			G	99102105	A	G	99102105	3	3	66	1	0	0	0	0	1	0	0	0	2432	217	8	4	866	4	C8orf47	8	99102105	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	46368891	99102105	47261917	45	6400											
COL22A1	169044	hgsc.bcm.edu;ucsc.edu	37	chr8	139606435	139606435	+	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	atctgggccaggaggtaggcGagtctggctgtaaagtagaa	11	8	16	6	1	2	1	0	0	2	1	2	3	2	2	1	5	0	4	1	5	5	3	rs115499018	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:139606435G>A	ENST00000303045.6	-	63	4886	c.4440C>T	c.(4438-4440)ctC>ctT	p.L1480L	COL22A1_ENST00000435777.1_Silent_p.L1460L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1480	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)			GGAGGTAGGCGAGTCTGGCTG	0.572										HNSCC(7;0.00092)			G|||	54	0.0107827	0.0378	0.0043	5008	,	,		18009	0		0.001	False		,,,				2504	0					.											0								G		111,4295	76.8+/-115.0	2,107,2094	33	36	35		4440	-11.8	0.6	8	dbSNP_132	35	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COL22A1	NM_152888.1		2,109,6392	AA,AG,GG		0.0233,2.5193,0.8688		1480/1627	139606435	113,12893	2203	4300	6503	SO:0001819	synonymous_variant	169044			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.4440C>T	8.37:g.139606435G>A			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139606435	G	A	139606435	2	1	66	1	0	0	0	0	0	0	0	1	3681	1045	37	1		1	COL22A1	8	139606435	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	40504330	139606435	6757587	46	6401											
DENND3	22898	ucsc.edu	37	chr8	142204326	142204326	+	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	aaagtcgccatttggaaaggCgaataaacgtggctgagtct	13	9	12	7	3	1	1	0	1	1	0	2	3	1	2	1	3	1	1	1	3	5	2	rs1045248	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:142204326C>G	ENST00000262585.2	+	23	3869	c.3591C>G	c.(3589-3591)ggC>ggG	p.G1197G	DENND3_ENST00000523308.1_Silent_p.G247G|DENND3_ENST00000424248.1_Silent_p.G1145G|DENND3_ENST00000519811.1_Silent_p.G1277G	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1197					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)			TTTGGAAAGGCGAATAAACGT	0.617													G|||	2563	0.511781	0.4713	0.4625	5008	,	,		19319	0.6627		0.4085	False		,,,				2504	0.5521					.											0								G		2180,2226	582.3+/-385.5	540,1100,563	56	50	52		3591	-5.1	0	8	dbSNP_86	52	3283,5315	636.1+/-399.1	642,1999,1658	no	coding-synonymous	DENND3	NM_014957.2		1182,3099,2221	GG,GC,CC		38.1833,49.478,42.0102		1197/1199	142204326	5463,7541	2203	4299	6502	SO:0001819	synonymous_variant	22898			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.3591C>G	8.37:g.142204326C>G			B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	1101	0.5041208791208791	236	0.4796747967479675	184	0.5082872928176796	386	0.6748251748251748	295	0.3891820580474934	G	0.178	-1.064887	0.01934	0.49478	0.381833	ENSG00000105339	ENST00000518668	.	.	.	5.29	-5.14	0.02875	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.41963	-0.9479	3	.	.	.	-22.9582	2.163	0.03829	0.147:0.3307:0.2613:0.261	rs1045248;rs3185128;rs3739225;rs1045248	.	.	.	G	1202	.	.	R	+	1	2	DENND3	142273508	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-3.114000	0.00598	-1.350000	0.02199	-2.316000	0.00254	CGA		0.617	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		G	142204326	C	G	142204326	2	3	66	1	0	0	0	0	0	0	0	1	4432	755	27	5		5	DENND3	8	142204326	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	2597891	142204326	4159696	47	6402											
GPR172A	79581	bcgsc.ca	37	chr8	145583036	145583036	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctcctgggctgcggtcaAtgggatctgggtggagctac	5	9	18	9	1	2	0	1	0	1	0	3	2	3	2	1	6	3	3	1	6	2	1	rs141698844		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr8:145583036A>G	ENST00000532887.1	+	2	666	c.83A>G	c.(82-84)aAt>aGt	p.N28S	SLC52A2_ENST00000329994.2_Missense_Mutation_p.N28S|SLC52A2_ENST00000526752.1_Missense_Mutation_p.N28S|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.N28S|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000402965.1_Missense_Mutation_p.N28S|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.N28S|FBXL6_ENST00000331890.5_5'Flank|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	28					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)	GCTGCGGTCAATGGGATCTGG	0.662													A|||	1	0.000199681	0	0	5008	,	,		18507	0		0.001	False		,,,				2504	0					.											0								A	SER/ASN	2,4400	4.2+/-10.8	0,2,2199	84	77	79		83	1.7	0	8	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPR172A	NM_024531.3	46	0,4,6497	GG,GA,AA		0.0233,0.0454,0.0308	probably-damaging	28/446	145583036	4,12998	2201	4300	6501	SO:0001583	missense	79581			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.83A>G	8.37:g.145583036A>G	ENSP00000436768:p.Asn28Ser		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	19.02	3.744904	0.69418	4.54E-4	2.33E-4	ENSG00000185803	ENST00000524541;ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000526752	T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	4.33	1.72	0.24424	.	0.053970	0.64402	D	0.000001	D	0.85173	0.5636	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.82133	-0.0608	10	0.52906	T	0.07	.	5.0614	0.14559	0.7124:0.1836:0.104:0.0	.	28	Q9HAB3	RFT3_HUMAN	S	28	ENSP00000434239:N28S;ENSP00000435820:N28S;ENSP00000434728:N28S;ENSP00000433583:N28S;ENSP00000385961:N28S;ENSP00000431965:N28S;ENSP00000436768:N28S;ENSP00000333638:N28S;ENSP00000433796:N28S	ENSP00000333638:N28S	N	+	2	0	GPR172A	145553844	0.993000	0.37304	0.047000	0.18901	0.654000	0.38779	3.228000	0.51270	0.531000	0.28639	0.379000	0.24179	AAT		0.662	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		G	145583036	A	G	145583036	3	3	66	1	0	0	0	0	1	0	0	0	6669	101	4	4	85	4	GPR172A	8	145583036	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	3378710	145583036	780986	48	6403											
ZNF658	26149	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chr9	40774999	40774999	+	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	cacagaggtttttcttgtttTtcccggatccctttgatgtg	5	18	9	9	1	1	2	0	1	1	1	3	3	3	3	2	2	0	2	2	2	0	6			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr9:40774999T>A	ENST00000602553.1	-	5	570	c.276A>T	c.(274-276)gaA>gaT	p.E92D	ZNF658_ENST00000441795.1_Missense_Mutation_p.E90D|ZNF658_ENST00000377626.3_Missense_Mutation_p.E92D			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTCTTGTTTTTCCCGGATCC	0.308																																						.											0													11	14	13					9																	40774999		687	1633	2320	SO:0001583	missense	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.276A>T	9.37:g.40774999T>A	ENSP00000473484:p.Glu92Asp		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	13.60	2.284284	0.40394	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.08193	3.23;3.12	2.3	0.937	0.19494	.	.	.	.	.	T	0.07369	0.0186	L	0.45581	1.43	0.09310	N	0.99999	P;B	0.40302	0.712;0.092	B;B	0.40375	0.327;0.05	T	0.29305	-1.0016	9	0.14252	T	0.57	.	5.9381	0.19177	0.0:0.0:0.466:0.534	.	92;92	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	D	90;92	ENSP00000408462:E90D;ENSP00000366853:E92D	ENSP00000366853:E92D	E	-	3	2	ZNF658	40764999	0.883000	0.30277	0.058000	0.19502	0.013000	0.08279	0.808000	0.27154	1.092000	0.41356	0.321000	0.21382	GAA		0.308	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		A	40774999	T	A	40774999	3	1	66	1	0	0	0	0	1	0	0	0	18066	1838	64	5	2907	5	ZNF658	9	40774999	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		40774999	100438432	49	6404											
PPP6C	5537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr9	127915854	127915854	+	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	aaaagccaacctgctcctcgGggactgatagcccaggtatc	11	7	10	13	1	0	1	0	1	0	0	3	2	1	2	4	3	4	2	4	3	5	2			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr9:127915854G>A	ENST00000373547.4	-	6	726	c.627C>T	c.(625-627)ccC>ccT	p.P209P	PPP6C_ENST00000451402.1_Silent_p.P246P|PPP6C_ENST00000373546.3_Silent_p.P62P|PPP6C_ENST00000415905.1_Silent_p.P187P	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	209					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CTGCTCCTCGGGGACTGATAG	0.438																																						.											0													76	72	74					9																	127915854		2203	4300	6503	SO:0001819	synonymous_variant	5537			AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.627C>T	9.37:g.127915854G>A			B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Silent	SNP	ENST00000373547.4	37	CCDS6861.1																																																																																				0.438	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		A	127915854	G	A	127915854	2	1	66	1	0	0	0	0	0	0	0	1	12407	1219	43	3		3	PPP6C	9	127915854	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	87140855	127915854	13297577	50	6405											
ZBTB43	23099	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr9	129595572	129595572	+	Missense_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	gcgagggcatggatgtgcacGcgacctacgacgagcaccag	10	4	15	12	5	0	0	0	0	0	0	0	5	0	1	2	2	3	3	2	2	1	1			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr9:129595572G>A	ENST00000373464.4	+	3	1048	c.784G>A	c.(784-786)Gcg>Acg	p.A262T	ZBTB43_ENST00000373457.1_Missense_Mutation_p.A262T|ZBTB43_ENST00000449886.1_Missense_Mutation_p.A262T	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	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)			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						GGATGTGCACGCGACCTACGA	0.607																																						.											0													59	49	52					9																	129595572		2203	4300	6503	SO:0001583	missense	23099			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.784G>A	9.37:g.129595572G>A	ENSP00000362563:p.Ala262Thr		Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	G	9.187	1.025052	0.19433	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.10288	2.89;2.89;2.89	5.49	4.6	0.57074	.	0.257564	0.33290	N	0.005072	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B	0.27679	0.185	B	0.12837	0.008	T	0.39187	-0.9626	10	0.13470	T	0.59	.	7.3486	0.26678	0.1583:0.1397:0.7021:0.0	.	262	O43298	ZBT43_HUMAN	T	262	ENSP00000390344:A262T;ENSP00000362563:A262T;ENSP00000362556:A262T	ENSP00000362556:A262T	A	+	1	0	ZBTB43	128635393	0.011000	0.17503	0.781000	0.31783	0.724000	0.41520	1.177000	0.31969	1.463000	0.47967	-0.448000	0.05591	GCG		0.607	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		A	129595572	G	A	129595572	3	1	66	1	0	0	0	0	1	0	0	0	17541	1087	38	1	786	1	ZBTB43	9	129595572	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1679718	129595572	11617859	51	6406											
MYST4	23522	hgsc.bcm.edu	37	chr10	76790413	76790413	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccatcagtcacaaatctAtgggcgctcccagactgtag	11	8	8	14	1	3	1	2	0	1	1	4	1	4	1	2	1	0	2	2	1	3	2	rs143966521		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr10:76790413A>G	ENST00000287239.4	+	18	6320	c.5831A>G	c.(5830-5832)tAt>tGt	p.Y1944C	KAT6B_ENST00000372725.1_Missense_Mutation_p.Y1652C|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y1761C|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y1652C|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y1652C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1944	Interaction with RUNX1 and RUNX2.				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)	p.Y1944C(1)									TCACAAATCTATGGGCGCTCC	0.552																																						.											1	Substitution - Missense(1)	lung(1)						A	CYS/TYR	0,4406		0,0,2203	86	86	86		5831	5.7	1	10	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	KAT6B	NM_012330.2	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	1944/2074	76790413	1,13005	2203	4300	6503	SO:0001583	missense	23522			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.5831A>G	10.37:g.76790413A>G	ENSP00000287239:p.Tyr1944Cys		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432460	0.43224	0.0	1.16E-4	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.87650	-2.13;-2.13;-2.28;-2.13;-2.14	5.69	5.69	0.88448	.	0.000000	0.45361	D	0.000363	D	0.89822	0.6826	L	0.29908	0.895	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.91276	0.5048	10	0.87932	D	0	-10.2811	15.9322	0.79672	1.0:0.0:0.0:0.0	.	1761;1652;1944	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	C	1652;1652;1944;1652;1761	ENSP00000361810:Y1652C;ENSP00000361809:Y1652C;ENSP00000287239:Y1944C;ENSP00000361799:Y1652C;ENSP00000361796:Y1761C	ENSP00000287239:Y1944C	Y	+	2	0	KAT6B	76460419	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.165000	0.68154	0.460000	0.39030	TAT		0.552	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		G	76790413	A	G	76790413	3	3	66	1	0	0	0	0	1	0	0	0	10105	449	16	4	5893	4	MYST4	10	76790413	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10		76790413	58744334	52	6407											
TDRD1	56165	hgsc.bcm.edu	37	chr10	115987678	115987678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgcttttagaaaagatgtAtaggatgaattgctgctgca	12	14	11	4	0	0	3	0	1	0	2	0	4	0	4	0	1	4	5	0	1	6	5	rs34112549	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr10:115987678A>G	ENST00000369280.1	+	23	3645	c.3185A>G	c.(3184-3186)tAt>tGt	p.Y1062C	TDRD1_ENST00000369282.1_Missense_Mutation_p.Y1062C|TDRD1_ENST00000369281.2_Missense_Mutation_p.Y1024C|TDRD1_ENST00000251864.2_Missense_Mutation_p.Y1138C|TDRD1_ENST00000422662.1_Missense_Mutation_p.Y666C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1061					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)		GAAAAGATGTATAGGATGAAT	0.318													A|||	56	0.0111821	0.0408	0.0014	5008	,	,		18848	0		0.001	False		,,,				2504	0					.											0								A	CYS/TYR	164,4240	109.1+/-147.4	5,154,2043	114	108	110		3413	-3.2	0	10	dbSNP_126	110	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TDRD1	NM_198795.1	194	5,158,6339	GG,GA,AA		0.0465,3.7239,1.2919	benign	1138/1190	115987678	168,12836	2202	4300	6502	SO:0001583	missense	56165			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.3185A>G	10.37:g.115987678A>G	ENSP00000358286:p.Tyr1062Cys		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		24	0.01098901098901099	23	0.046747967479674794	0	0.0	0	0.0	1	0.0013192612137203166	A	6.628	0.484402	0.12641	0.037239	4.65E-4	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.17370	3.13;3.13;2.28;2.55;3.13	5.3	-3.16	0.05217	.	1.884470	0.02263	N	0.067712	T	0.01353	0.0044	N	0.04508	-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	0.04013	0.001;0.0;0.0;0.001;0.001	T	0.30563	-0.9974	10	0.36615	T	0.2	6.9222	13.0699	0.59055	0.3937:0.0:0.6063:0.0	rs34112549	666;1138;1024;1138;1024	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	C	1062;1138;1024;666;1062	ENSP00000358288:Y1062C;ENSP00000251864:Y1138C;ENSP00000358287:Y1024C;ENSP00000402794:Y666C;ENSP00000358286:Y1062C	ENSP00000251864:Y1138C	Y	+	2	0	TDRD1	115977668	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.001000	0.13038	-0.599000	0.05798	-0.973000	0.02599	TAT		0.318	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			G	115987678	A	G	115987678	3	3	66	1	0	0	0	0	1	0	0	0	15727	449	16	4	3503	4	TDRD1	10	115987678	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	39197265	115987678	19547069	53	6408											
OR51I2	390064	hgsc.bcm.edu	37	chr11	5475431	5475431	+	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	tgaggaacgcctcaaagctcTcaacacatgtgtgtcacata	13	9	8	11	1	3	1	3	1	1	0	4	2	3	2	1	1	3	1	1	1	4	1	rs199654892|rs35301588	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr11:5475431T>A	ENST00000341449.2	+	1	794	c.713T>A	c.(712-714)cTc>cAc	p.L238H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	238					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAAAGCTCTCAACACATGT	0.498																																						.											0													282	237	252					11																	5475431		2201	4297	6498	SO:0001583	missense	390064			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.713T>A	11.37:g.5475431T>A	ENSP00000341987:p.Leu238His		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594810	0.46318	.	.	ENSG00000187918	ENST00000341449	T	0.00207	8.55	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.110868	0.40908	D	0.000997	T	0.00875	0.0029	H	0.95574	3.69	0.31649	N	0.647016	D	0.76494	0.999	D	0.66847	0.947	T	0.03325	-1.1048	10	0.87932	D	0	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	238	Q9H344	O51I2_HUMAN	H	238	ENSP00000341987:L238H	ENSP00000341987:L238H	L	+	2	0	OR51I2	5432007	0.880000	0.30214	1.000000	0.80357	0.415000	0.31203	5.792000	0.69052	2.343000	0.79666	0.533000	0.62120	CTC		0.498	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		A	5475431	T	A	5475431	3	1	66	1	0	0	0	0	1	0	0	0	11101	1551	54	5	715	5	OR51I2	11	5475431	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		5475431	129531085	54	6409											
DNHD1	144132	bcgsc.ca	37	chr11	6524072	6524072	+	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	gacttccttcctggatagccAggtgatgactgctctgaaga	9	11	11	10	0	1	4	0	3	1	1	3	6	3	5	3	2	2	1	3	2	2	3	rs11605196	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr11:6524072A>C	ENST00000527990.2	+	2	836	c.836A>C	c.(835-837)cAg>cCg	p.Q279P	DNHD1_ENST00000354685.3_Missense_Mutation_p.Q279P|DNHD1_ENST00000254579.6_Missense_Mutation_p.Q279P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	279			Q -> P (in dbSNP:rs11605196).		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)		CTGGATAGCCAGGTGATGACT	0.502													A|||	499	0.0996406	0.0408	0.147	5008	,	,		20522	0.0169		0.1789	False		,,,				2504	0.1493					.											0								A	PRO/GLN,PRO/GLN	277,4125	155.2+/-188.4	10,257,1934	122	102	109		836,836	4.5	0	11	dbSNP_120	109	1636,6956	302.2+/-305.8	165,1306,2825	yes	missense,missense	DNHD1	NM_144666.2,NM_173589.3	76,76	175,1563,4759	CC,CA,AA		19.041,6.2926,14.7222	benign,benign	279/4754,279/598	6524072	1913,11081	2201	4296	6497	SO:0001583	missense	144132			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.836A>C	11.37:g.6524072A>C	ENSP00000436180:p.Gln279Pro		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	224	0.10256410256410256	26	0.052845528455284556	46	0.1270718232044199	11	0.019230769230769232	141	0.18601583113456466	A	11.40	1.627054	0.28978	0.062926	0.19041	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27890	1.64;2.65;1.64	5.64	4.52	0.55395	.	0.540708	0.18166	N	0.149607	T	0.00039	0.0001	L	0.40543	1.245	0.80722	P	0.0	P;B	0.44578	0.838;0.004	B;B	0.41813	0.367;0.004	T	0.18178	-1.0345	9	0.28530	T	0.3	.	8.2343	0.31616	0.9095:0.0:0.0905:0.0	rs11605196;rs52824639;rs11605196	279;279	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	279	ENSP00000254579:Q279P;ENSP00000346716:Q279P;ENSP00000436180:Q279P	ENSP00000254579:Q279P	Q	+	2	0	DNHD1	6480648	0.000000	0.05858	0.019000	0.16419	0.032000	0.12392	0.115000	0.15540	0.971000	0.38288	0.460000	0.39030	CAG		0.502	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6524072	A	C	6524072	3	2	66	1	0	0	0	0	1	0	0	0	4668	188	7	5	842	5	DNHD1	11	6524072	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	1048641	6524072	128482444	55	6410											
PHF21A	51317	ucsc.edu	37	chr11	46001380	46001380	+	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	tggtggtggtactgctgctgTtgttgtagttgctgtagtgg	3	17	17	4	0	0	0	0	0	0	0	0	0	0	0	0	4	4	9	0	4	3	6	rs151038480		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr11:46001380T>C	ENST00000418153.2	-	6	490	c.291A>G	c.(289-291)caA>caG	p.Q97Q	PHF21A_ENST00000257821.4_Silent_p.Q97Q|PHF21A_ENST00000323180.6_Silent_p.Q97Q			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	97	Gln-rich.				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						actgctgctgttgttgtagtt	0.498																																						.											0								T	,	3,4401	6.2+/-15.9	0,3,2199	343	268	294		291,291	-6.8	0.1	11	dbSNP_134	294	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	PHF21A	NM_001101802.1,NM_016621.3	,	0,3,6498	CC,CT,TT		0.0,0.0681,0.0231	,	97/681,97/635	46001380	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	51317			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.291A>G	11.37:g.46001380T>C			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		C	46001380	T	C	46001380	2	2	66	1	0	0	0	0	0	0	0	1	11833	1722	60	2		2	PHF21A	11	46001380	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10	39477308	46001380	89005136	56	6411											
CARD17	440068	mdanderson.org;bcgsc.ca	37	chr11	104971257	104971257	+	Missense_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	tacctgctgagagtcccagcGtccctgccaggtgactgtct	6	10	11	14	1	1	2	0	2	1	1	3	3	3	2	4	1	4	1	4	1	1	1	rs12806837	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr11:104971257G>A	ENST00000375707.1	-	2	273	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	86	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						GAGTCCCAGCGTCCCTGCCAG	0.488													.|||	512	0.102236	0.143	0.2233	5008	,	,		20238	0.006		0.0815	False		,,,				2504	0.0818					.											0								G	MET/THR	601,3803		31,539,1632	122	106	111		257	-2.5	0	11	dbSNP_121	111	694,7904		29,636,3634	no	missense	CARD17	NM_001007232.1	81	60,1175,5266	AA,AG,GG		8.0716,13.6467,9.96		86/111	104971257	1295,11707	2202	4299	6501	SO:0001583	missense	440068				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.257C>T	11.37:g.104971257G>A	ENSP00000364859:p.Thr86Met			Missense_Mutation	SNP	ENST00000375707.1	37	CCDS31662.1	216	0.0989010989010989	81	0.16463414634146342	75	0.20718232044198895	2	0.0034965034965034965	58	0.07651715039577836	.	6.103	0.387223	0.11581	0.136467	0.080716	ENSG00000255221	ENST00000375707	T	0.20881	2.04	2.69	-2.47	0.06442	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.00012	0.0000	M	0.70595	2.14	0.80722	P	0.0	P	0.38617	0.64	B	0.29598	0.104	T	0.12167	-1.0558	8	0.40728	T	0.16	.	2.9218	0.05771	0.4783:0.0:0.2414:0.2803	rs12806837	86	Q5XLA6	CAR17_HUMAN	M	86	ENSP00000364859:T86M	ENSP00000364859:T86M	T	-	2	0	CARD17	104476467	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-0.752000	0.04728	0.511000	0.50034	ACG		0.488	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		A	104971257	G	A	104971257	3	1	66	1	0	0	0	0	1	0	0	0	2648	1145	40	1	83	1	CARD17	11	104971257	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	58969877	104971257	30035259	57	6412											
PRB1	5542	mdanderson.org	37	chr12	11508460	11508460	+	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	agctgagctcagggccagcaAggccactgacagcagaatca	13	4	12	12	0	2	3	2	2	0	1	2	3	2	3	2	2	4	4	2	2	2	0	rs200021729		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr12:11508460A>G	ENST00000500254.2	-	1	65	c.28T>C	c.(28-30)Ttg>Ctg	p.L10L	PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Silent_p.L10L	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						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)			AGGGCCAGCAAGGCCACTGAC	0.498																																						.											0													83	80	81					12																	11508460		2177	4276	6453	SO:0001819	synonymous_variant	5542				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.28T>C	12.37:g.11508460A>G			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.498	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		G	11508460	A	G	11508460	2	3	66	1	0	0	0	0	0	0	0	1	12442	69	3	2		2	PRB1	12	11508460	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10		11508460	122343435	58	6413											
PRB2	653247	mdanderson.org	37	chr12	11546625	11546625	+	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	ggaggaggtggaggaccttgAggctggttgcctccttgtgg	5	10	19	7	0	0	1	0	1	0	0	1	5	1	5	3	8	1	2	3	8	0	3	rs200564286		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr12:11546625A>G	ENST00000389362.4	-	3	422	c.387T>C	c.(385-387)ccT>ccC	p.P129P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	129	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)			GAGGACCTTGAGGCTGGTTGC	0.602																																						.											0													309	287	294					12																	11546625		2203	4300	6503	SO:0001819	synonymous_variant	653247			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.387T>C	12.37:g.11546625A>G			O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		G	11546625	A	G	11546625	2	3	66	1	0	0	0	0	0	0	0	1	12443	291	11	2		2	PRB2	12	11546625	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10	38165	11546625	122305270	59	6414											
IRS2	8660	ucsc.edu	37	chr13	110435914	110435914	+	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	tcctccaggatgcgccccacGggggagctcatgagcacgta	8	6	13	14	3	1	1	1	1	0	0	3	3	3	3	4	3	3	3	4	3	1	1	rs12853546	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr13:110435914G>A	ENST00000375856.3	-	1	3001	c.2487C>T	c.(2485-2487)ccC>ccT	p.P829P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	829					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)			TGCGCCCCACGGGGGAGCTCA	0.731													.|||	1127	0.22504	0.2027	0.1542	5008	,	,		8938	0.2173		0.2565	False		,,,				2504	0.2812				Melanoma(100;613 2409 40847)	.											0								G		757,3251		86,585,1333	4	6	5		2487	-10.3	0.3	13	dbSNP_121	5	1742,6278		224,1294,2492	no	coding-synonymous	IRS2	NM_003749.2		310,1879,3825	AA,AG,GG		21.7207,18.8872,20.7765		829/1339	110435914	2499,9529	2004	4010	6014	SO:0001819	synonymous_variant	8660			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.2487C>T	13.37:g.110435914G>A			Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	CCDS9510.1																																																																																				0.731	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		A	110435914	G	A	110435914	2	1	66	1	0	0	0	0	0	0	0	1	7841	1103	39	1		1	IRS2	13	110435914	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10		110435914	4733964	60	6415											
DAAM1	23002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr14	59793702	59793702	+	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	aaagaacaagcggaaaaaatGagaaaaggtaaataatgagg	24	4	11	2	1	0	3	0	2	0	2	0	5	0	4	0	3	2	1	0	3	11	2			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr14:59793702G>T	ENST00000395125.1	+	11	1388	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	DAAM1_ENST00000351081.1_Missense_Mutation_p.M455I|DAAM1_ENST00000360909.3_Missense_Mutation_p.M455I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	455					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGGAAAAAATGAGAAAAGGTA	0.333																																						.											0													160	175	170					14																	59793702		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1365G>T	14.37:g.59793702G>T	ENSP00000378557:p.Met455Ile		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831199	0.71258	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.39997	1.05;1.05;1.05	6.01	6.01	0.97437	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.68952	2.095	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.24119	-1.0169	10	0.46703	T	0.11	.	12.7696	0.57412	0.074:0.0:0.926:0.0	.	455;455	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	I	455	ENSP00000354162:M455I;ENSP00000247170:M455I;ENSP00000378557:M455I	ENSP00000247170:M455I	M	+	3	0	DAAM1	58863455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.475000	0.73582	2.861000	0.98227	0.650000	0.86243	ATG		0.333	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		T	59793702	G	T	59793702	3	4	66	1	0	0	0	0	1	0	0	0	4215	1290	45	5	1407	5	DAAM1	14	59793702	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10		59793702	47555838	61	6416											
ERH	2079	bcgsc.ca	37	chr14	69861593	69861593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcataagttctgccttctgGcctcttggtaggctgtacca	7	13	10	11	0	3	0	0	0	3	0	3	0	3	0	3	3	3	5	3	3	3	6			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr14:69861593G>T	ENST00000557016.1	-	2	433	c.40C>A	c.(40-42)Cca>Aca	p.P14T	ERH_ENST00000216520.6_Intron|ERH_ENST00000555373.1_Missense_Mutation_p.P14T	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)	14					cell cycle (GO:0007049)|nucleobase-containing compound metabolic process (GO:0006139)|osteoblast differentiation (GO:0001649)|pyrimidine nucleoside metabolic process (GO:0006213)	membrane (GO:0016020)|midbody (GO:0030496)	poly(A) RNA binding (GO:0044822)								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		CTGCCTTCTGGCCTCTTGGTA	0.373																																						.											0													102	91	95					14																	69861593		2203	4300	6503	SO:0001583	missense	2079			BC014301	CCDS9794.1	14q24.1	2011-05-18	2001-11-28		ENSG00000100632	ENSG00000100632			3447	protein-coding gene	gene with protein product		601191	"enhancer of rudimentary (Drosophila) homolog"			8786099, 9074495	Standard	NM_004450		Approved	DROER	uc001xlc.2	P84090		ENST00000557016.1:c.40C>A	14.37:g.69861593G>T	ENSP00000451080:p.Pro14Thr		B2R5H2|P70659|Q14259	Missense_Mutation	SNP	ENST00000557016.1	37	CCDS9794.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466046	0.63625	.	.	ENSG00000100632	ENST00000557016;ENST00000555373	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.74650	0.3744	M	0.75615	2.305	0.80722	D	1	B	0.27997	0.197	B	0.42319	0.383	T	0.68674	-0.5346	9	0.13108	T	0.6	.	19.6765	0.95936	0.0:0.0:1.0:0.0	.	14	P84090	ERH_HUMAN	T	14	.	ENSP00000216520:P14T	P	-	1	0	ERH	68931346	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.768000	0.98965	2.644000	0.89710	0.655000	0.94253	CCA		0.373	ERH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412990.1	NM_004450		T	69861593	G	T	69861593	3	4	66	1	0	0	0	0	1	0	0	0	5226	1203	42	5	286	5	ERH	14	69861593	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	10067891	69861593	37487947	62	6417											
DCAF4	26094	mdanderson.org	37	chr14	73422350	73422350	+	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	catgattcagcagtgacctcTgtgcggatcctccaagatga	10	10	10	11	1	2	4	1	3	1	1	4	5	4	5	3	1	2	1	3	1	1	1	rs2806034	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr14:73422350T>G	ENST00000358377.2	+	12	1345	c.1125T>G	c.(1123-1125)tcT>tcG	p.S375S	DCAF4_ENST00000509153.1_Silent_p.S315S|DCAF4_ENST00000353777.3_Silent_p.S205S|DCAF4_ENST00000553457.1_Silent_p.S275S|DCAF4_ENST00000394234.2_Silent_p.S275S|DCAF4_ENST00000555042.1_Silent_p.S369S	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	375					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CAGTGACCTCTGTGCGGATCC	0.547													T|||	1046	0.208866	0.1921	0.1527	5008	,	,		19731	0.1518		0.3131	False		,,,				2504	0.2229					.											0								T	,,,,	970,3436	364.9+/-317.2	105,760,1338	215	199	205		1107,1062,1125,825,945	0.5	0.7	14	dbSNP_100	205	2601,5999	420.9+/-353.5	408,1785,2107	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DCAF4	NM_001163508.1,NM_001163509.1,NM_015604.3,NM_181340.2,NM_181341.2	,,,,	513,2545,3445	GG,GT,TT		30.2442,22.0154,27.4566	,,,,	369/490,354/475,375/496,275/396,315/436	73422350	3571,9435	2203	4300	6503	SO:0001819	synonymous_variant	26094			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1125T>G	14.37:g.73422350T>G			B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	CCDS9809.1																																																																																				0.547	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		G	73422350	T	G	73422350	2	3	66	1	0	0	0	0	0	0	0	1	4270	1567	55	5		5	DCAF4	14	73422350	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10	3560757	73422350	33927190	63	6418											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	chr14	75265325	75265325	+	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	acaggggtgcagctggcagcCgagaaaggggaccacctcgg	10	3	17	11	2	0	1	0	0	0	1	1	3	0	2	3	6	3	3	3	6	1	0			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr14:75265325C>T	ENST00000325680.7	+	5	3449	c.3325C>T	c.(3325-3327)Cga>Tga	p.R1109*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R914*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	914	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)		AGCTGGCAGCCGAGAAAGGGG	0.627																																						.											0													45	54	51					14																	75265325		1933	4131	6064	SO:0001587	stop_gained	56252			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.3325C>T	14.37:g.75265325C>T	ENSP00000324463:p.Arg1109*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000325680.7	37	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253132	0.95336	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.78	3.91	0.45181	.	0.110829	0.40302	N	0.001127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3673	10.8655	0.46853	0.3692:0.5117:0.1192:0.0	.	.	.	.	X	1109;914;822	.	ENSP00000238571:R914X	R	+	1	2	YLPM1	74335078	0.996000	0.38824	0.999000	0.59377	0.972000	0.66771	0.320000	0.19540	0.739000	0.32628	0.643000	0.83706	CGA		0.627	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		T	75265325	C	T	75265325	4	4	66	1	0	0	0	0	0	1	0	0	17483	644	23	1	3343	1	YLPM1	14	75265325	Nonsense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	1842975	75265325	32084215	64	6419											
DISP2	85455	mdanderson.org	37	chr15	40660192	40660192	+	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	tcttcatgggcacggctgtgCtggtgcacctggcgctcacg	4	10	14	13	3	3	0	2	0	1	0	3	0	3	0	1	4	2	5	1	4	0	1	rs8040755	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr15:40660192C>T	ENST00000267889.3	+	8	1966	c.1879C>T	c.(1879-1881)Ctg>Ttg	p.L627L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	627	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)		CACGGCTGTGCTGGTGCACCT	0.746													C|||	218	0.0435304	0.0038	0.1066	5008	,	,		10666	0.0179		0.0984	False		,,,				2504	0.0225					.											0								C		81,4189		0,81,2054	5	5	5		1879	5.6	1	15	dbSNP_116	5	887,7489		41,805,3342	no	coding-synonymous	DISP2	NM_033510.1		41,886,5396	TT,TC,CC		10.5898,1.897,7.6546		627/1402	40660192	968,11678	2135	4188	6323	SO:0001819	synonymous_variant	85455			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.1879C>T	15.37:g.40660192C>T			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		T	40660192	C	T	40660192	2	4	66	1	0	0	0	0	0	0	0	1	4540	796	28	4		4	DISP2	15	40660192	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10		40660192	61871200	65	6420											
LIPC	3990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	chr15	58837951	58837951	+	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	ttcccattagggctggatgcCgcgggacctttgtttgaggg	5	12	15	9	2	0	1	0	1	0	0	1	3	1	3	3	4	1	2	3	4	1	4	rs149322349		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr15:58837951C>T	ENST00000356113.6	+	7	1200	c.585C>T	c.(583-585)gcC>gcT	p.A195A	LIPC_ENST00000433326.2_Silent_p.A134A|LIPC_ENST00000414170.3_Silent_p.A195A|LIPC_ENST00000299022.5_Silent_p.A195A			P11150	LIPC_HUMAN	lipase, hepatic	195					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)	p.A195A(1)		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)		GGCTGGATGCCGCGGGACCTT	0.493																																						.											1	Substitution - coding silent(1)	endometrium(1)						C		0,4384		0,0,2192	62	59	60		585	-10.9	0	15	dbSNP_134	60	1,8583	1.2+/-3.3	0,1,4291	no	coding-synonymous	LIPC	NM_000236.2		0,1,6483	TT,TC,CC		0.0116,0.0,0.0077		195/500	58837951	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	3990				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.585C>T	15.37:g.58837951C>T			A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																				0.493	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			T	58837951	C	T	58837951	2	4	66	1	0	0	0	0	0	0	0	1	8820	639	23	1		1	LIPC	15	58837951	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	18177759	58837951	43693441	66	6421											
CYP1A2	1544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	chr15	75042327	75042327	+	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	gcagatccgcattggctccaCgcccgtgctggtgctgagcc	5	8	13	15	3	0	2	0	1	0	1	2	2	2	2	4	2	3	5	4	2	0	1	rs138652540		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr15:75042327C>T	ENST00000343932.4	+	2	311	c.248C>T	c.(247-249)aCg>aTg	p.T83M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	83			T -> M (in allele CYP1A2*9). {ECO:0000269|PubMed:14563787}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	ATTGGCTCCACGCCCGTGCTG	0.667													C|||	1	0.000199681	0	0.0014	5008	,	,		18734	0		0	False		,,,				2504	0					.											0								C	MET/THR	1,4393	2.1+/-5.4	0,1,2196	51	46	48		248	3.1	0.3	15	dbSNP_134	48	0,8592		0,0,4296	yes	missense	CYP1A2	NM_000761.3	81	0,1,6492	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	83/517	75042327	1,12985	2197	4296	6493	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.248C>T	15.37:g.75042327C>T	ENSP00000342007:p.Thr83Met		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	c	14.29	2.489965	0.44249	2.28E-4	0.0	ENSG00000140505	ENST00000343932	T	0.70045	-0.45	4.98	3.11	0.35812	.	0.153946	0.52532	D	0.000076	T	0.77075	0.4077	M	0.81341	2.54	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65689	-0.6107	10	0.52906	T	0.07	.	3.3504	0.07150	0.1313:0.5675:0.1437:0.1575	.	83	P05177-2	.	M	83	ENSP00000342007:T83M	ENSP00000342007:T83M	T	+	2	0	CYP1A2	72829380	0.028000	0.19301	0.338000	0.25549	0.878000	0.50629	1.520000	0.35899	0.704000	0.31869	-0.215000	0.12644	ACG		0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		T	75042327	C	T	75042327	3	4	66	1	0	0	0	0	1	0	0	0	4150	536	19	1	250	1	CYP1A2	15	75042327	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	16204376	75042327	27489065	67	6422											
RBBP6	5930	mdanderson.org	37	chr16	24583715	24583715	+	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	tcaaagaagaacaaagataaAgagaaggagaaggagaaaga	25	2	12	2	0	1	7	1	0	0	7	1	10	1	7	0	2	1	0	0	2	9	1	rs148143334	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr16:24583715A>G	ENST00000319715.4	+	18	5760	c.5328A>G	c.(5326-5328)aaA>aaG	p.K1776K	RBBP6_ENST00000348022.2_Silent_p.K1742K|RBBP6_ENST00000381039.3_Silent_p.K936K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1776					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)		acaaagataaagagaaggaga	0.318																																						.											0													25	24	24					16																	24583715		1913	3652	5565	SO:0001819	synonymous_variant	5930				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.5328A>G	16.37:g.24583715A>G			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	CCDS10621.1																																																																																				0.318	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		G	24583715	A	G	24583715	2	3	66	1	0	0	0	0	0	0	0	1	13103	69	3	2		2	RBBP6	16	24583715	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10		24583715	65771038	68	6423											
SPAG7	9552	mdanderson.org	37	chr17	4864114	4864114	+	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	tccactttctgttgtttctcTtgctcttgtagtttcttcag	3	22	6	10	0	5	0	1	0	4	0	7	0	6	0	1	0	1	5	1	0	1	8	rs61749470	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:4864114T>C	ENST00000206020.3	-	2	187	c.120A>G	c.(118-120)caA>caG	p.Q40Q	SPAG7_ENST00000575142.1_Silent_p.Q29Q|SPAG7_ENST00000573366.1_5'UTR	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	40						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GTTGTTTCTCTTGCTCTTGTA	0.478													T|||	103	0.0205671	0.028	0.013	5008	,	,		19443	0.0099		0.0388	False		,,,				2504	0.0082					.											0								T		94,3648		0,94,1777	161	155	157		120	1.7	1	17	dbSNP_129	157	279,7943		6,267,3838	no	coding-synonymous	SPAG7	NM_004890.2		6,361,5615	CC,CT,TT		3.3933,2.512,3.1177		40/228	4864114	373,11591	1871	4111	5982	SO:0001819	synonymous_variant	9552			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.120A>G	17.37:g.4864114T>C			Q96EU5	Silent	SNP	ENST00000206020.3	37	CCDS42240.1																																																																																				0.478	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		C	4864114	T	C	4864114	2	2	66	1	0	0	0	0	0	0	0	1	14983	1606	56	2		2	SPAG7	17	4864114	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10		4864114	76331096	69	6424											
XAF1	54739	bcgsc.ca	37	chr17	6663894	6663894	+	Missense_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	ccagcacagagatgtctgtcGcagtgaacaggcccagctcg	10	6	12	13	2	1	2	0	1	1	1	3	3	1	2	2	1	3	3	2	1	1	0	rs386794960|rs2271232	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:6663894G>A	ENST00000361842.3	+	4	634	c.395G>A	c.(394-396)cGc>cAc	p.R132H	XAF1_ENST00000441631.1_Missense_Mutation_p.R132H|XAF1_ENST00000346752.4_Missense_Mutation_p.R113H|XAF1_ENST00000438512.1_Missense_Mutation_p.R132H	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	132			R -> H (in dbSNP:rs2271232).	R -> Q (in Ref. 3; BAF85537). {ECO:0000305}.	apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GATGTCTGTCGCAGTGAACAG	0.592													G|||	670	0.133786	0.2481	0.072	5008	,	,		17101	0.1855		0.0398	False		,,,				2504	0.0665					.											0													51	50	50					17																	6663894		2203	4300	6503	SO:0001583	missense	54739			X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.395G>A	17.37:g.6663894G>A	ENSP00000354822:p.Arg132His		A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	CCDS11080.1	220	0.10073260073260074	98	0.1991869918699187	17	0.04696132596685083	76	0.13286713286713286	29	0.03825857519788918	G	14.62	2.589297	0.46214	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000438512	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	3.77	-4.73	0.03259	.	1.042900	0.07588	N	0.921505	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D;D;P;D	0.62365	0.991;0.974;0.956;0.963	P;B;B;B	0.47430	0.547;0.4;0.2;0.301	T	0.05099	-1.0906	9	0.38643	T	0.18	-0.2545	5.9149	0.19050	0.297:0.0:0.5538:0.1493	rs2271232	132;113;132;72	C9J7Z8;Q6GPH4-2;Q6GPH4;B3KPW1	.;.;XAF1_HUMAN;.	H	132;132;113;132	ENSP00000354822:R132H;ENSP00000413199:R132H;ENSP00000341029:R113H;ENSP00000406233:R132H	ENSP00000341029:R113H	R	+	2	0	XAF1	6604618	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.822000	0.01711	-0.958000	0.03622	0.455000	0.32223	CGC		0.592	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		A	6663894	G	A	6663894	3	1	66	1	0	0	0	0	1	0	0	0	17416	1087	38	1	409	1	XAF1	17	6663894	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1799780	6663894	74531316	70	6425											
MYH4	4622	bcgsc.ca	37	chr17	10348354	10348354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagctgctcagcctcaTccagacggagctgcagatcc	8	6	11	16	2	2	2	2	0	0	2	4	3	4	3	4	1	5	4	4	1	0	0	rs2277649	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:10348354T>C	ENST00000255381.2	-	37	5515	c.5405A>G	c.(5404-5406)gAt>gGt	p.D1802G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1802			D -> G (in dbSNP:rs2277649). {ECO:0000269|PubMed:10388558}.		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						CTCAGCCTCATCCAGACGGAG	0.567													T|||	2278	0.454872	0.233	0.4755	5008	,	,		18937	0.8214		0.3181	False		,,,				2504	0.5031					.											0								T	GLY/ASP	1137,3269	405.8+/-333.6	141,855,1207	143	140	141		5405	5.5	0.9	17	dbSNP_100	141	3050,5550	469.9+/-367.7	536,1978,1786	no	missense	MYH4	NM_017533.2	94	677,2833,2993	CC,CT,TT		35.4651,25.8057,32.1928	possibly-damaging	1802/1940	10348354	4187,8819	2203	4300	6503	SO:0001583	missense	4622				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.5405A>G	17.37:g.10348354T>C	ENSP00000255381:p.Asp1802Gly			Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	979	0.4482600732600733	106	0.21544715447154472	162	0.44751381215469616	473	0.8269230769230769	238	0.31398416886543534	T	19.34	3.809062	0.70797	0.258057	0.354651	ENSG00000141048	ENST00000255381	T	0.78481	-1.18	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.38605	U	0.001638	T	0.00012	0.0000	H	0.95079	3.62	0.09310	P	0.999999246958	D	0.63880	0.993	D	0.70487	0.969	T	0.47761	-0.9092	9	0.87932	D	0	.	15.8867	0.79255	0.0:0.0:0.0:1.0	rs2277649;rs61532457;rs2277649	1802	Q9Y623	MYH4_HUMAN	G	1802	ENSP00000255381:D1802G	ENSP00000255381:D1802G	D	-	2	0	MYH4	10289079	1.000000	0.71417	0.938000	0.37757	0.170000	0.22686	6.257000	0.72480	2.214000	0.71695	0.482000	0.46254	GAT		0.567	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		C	10348354	T	C	10348354	3	2	66	1	0	0	0	0	1	0	0	0	10037	1435	50	4	430	4	MYH4	17	10348354	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	3684460	10348354	70846856	71	6426											
ELAC2	60528	broad.mit.edu	37	chr17	12898343	12898343	+	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	tccactgcaggactggagatCtcagccccttcctgaaggca	9	8	10	14	0	1	2	1	1	1	1	4	4	3	3	4	3	2	2	4	3	1	1			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:12898343C>T	ENST00000338034.4	-	20	2084	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	ELAC2_ENST00000426905.3_Silent_p.E575E|ELAC2_ENST00000395962.2_Silent_p.E596E	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	615					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						GACTGGAGATCTCAGCCCCTT	0.453																																						.											0													174	181	179					17																	12898343		2203	4300	6503	SO:0001819	synonymous_variant	60528			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.1845G>A	17.37:g.12898343C>T			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	CCDS11164.1																																																																																				0.453	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			T	12898343	C	T	12898343	2	4	66	1	0	0	0	0	0	0	0	1	5047	912	32	4		4	ELAC2	17	12898343	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10	2549989	12898343	68296867	72	6427											
LRRC48	83450	bcgsc.ca	37	chr17	17896205	17896205	+	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	acctcatgtacctggactacCggcgcattgatgaccacaca	11	8	8	14	2	1	2	1	2	0	0	1	3	1	3	4	2	2	2	4	2	2	3	rs4584886	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:17896205C>T	ENST00000399187.1	+	6	789	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	LRRC48_ENST00000584166.1_Missense_Mutation_p.R191W|LRRC48_ENST00000313838.8_Missense_Mutation_p.R191W|LRRC48_ENST00000399182.1_Missense_Mutation_p.R191W|LRRC48_ENST00000411504.2_Missense_Mutation_p.R191W	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	191	LRRCT.		R -> W (in dbSNP:rs4584886). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CCTGGACTACCGGCGCATTGA	0.542													C|||	2915	0.582069	0.4153	0.5187	5008	,	,		20965	0.8641		0.3748	False		,,,				2504	0.7751					.											0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1688,2530		355,978,776	93	93	93		571,571,571,571	3	1	17	dbSNP_111	93	2759,5693		452,1855,1919	yes	missense,missense,missense,missense	LRRC48	NM_001130090.1,NM_001130091.1,NM_001130092.1,NM_031294.3	101,101,101,101	807,2833,2695	TT,TC,CC		32.6432,40.019,35.0987	probably-damaging,probably-damaging,probably-damaging,probably-damaging	191/524,191/458,191/458,191/524	17896205	4447,8223	2109	4226	6335	SO:0001583	missense	83450			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.571C>T	17.37:g.17896205C>T	ENSP00000382140:p.Arg191Trp		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	CCDS45622.1	1170	0.5357142857142857	220	0.44715447154471544	167	0.4613259668508287	503	0.8793706293706294	280	0.36939313984168864	C	18.50	3.637604	0.67130	0.40019	0.326432	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.22	3.04	0.35103	.	0.200569	0.51477	D	0.000091	T	0.00012	0.0000	M	0.86740	2.835	0.09310	P	0.999999999725949	D;D	0.89917	1.0;1.0	D;D	0.74674	0.964;0.984	T	0.11916	-1.0568	9	0.72032	D	0.01	-17.5	12.1487	0.54038	0.4277:0.5723:0.0:0.0	rs4584886;rs17854522;rs17859520;rs59823215;rs4584886	191;191	Q9H069;Q9H069-2	LRC48_HUMAN;.	W	191	ENSP00000326870:R191W;ENSP00000394020:R191W;ENSP00000382140:R191W;ENSP00000382136:R191W	ENSP00000326870:R191W	R	+	1	2	LRRC48	17836930	1.000000	0.71417	0.986000	0.45419	0.690000	0.40134	3.333000	0.52090	1.156000	0.42514	0.655000	0.94253	CGG		0.542	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		T	17896205	C	T	17896205	3	4	66	1	0	0	0	0	1	0	0	0	9005	643	23	1	585	1	LRRC48	17	17896205	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	4997862	17896205	63299005	73	6428											
SLC5A10	125206	mdanderson.org	37	chr17	18918396	18918396	+	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	atgatcgcagtgatgctggcGgcgctcatgtcgtcgctgac	6	10	14	11	5	1	3	1	3	0	0	4	3	1	3	0	2	1	4	0	2	0	0	rs2074279	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:18918396G>C	ENST00000395645.3	+	11	1143	c.1125G>C	c.(1123-1125)gcG>gcC	p.A375A	SLC5A10_ENST00000395647.2_Silent_p.A391A|SLC5A10_ENST00000395642.1_Silent_p.A308A|SLC5A10_ENST00000417251.2_Silent_p.A339A|SLC5A10_ENST00000317977.6_Silent_p.A308A|SLC5A10_ENST00000395643.2_Silent_p.A348A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	375					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						TGATGCTGGCGGCGCTCATGT	0.677													C|||	997	0.199081	0.3336	0.0663	5008	,	,		12776	0.3413		0.0288	False		,,,				2504	0.1401					.											0								C	,	1209,3197	706.8+/-407.4	151,907,1145	60	49	53		1125,1173	-4.3	0.8	17	dbSNP_96	53	187,8413	810.1+/-407.1	2,183,4115	no	coding-synonymous,coding-synonymous	SLC5A10	NM_001042450.1,NM_152351.3	,	153,1090,5260	CC,CG,GG		2.1744,27.4399,10.7335	,	375/597,391/613	18918396	1396,11610	2203	4300	6503	SO:0001819	synonymous_variant	125206				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.1125G>C	17.37:g.18918396G>C			A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.677	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		C	18918396	G	C	18918396	2	2	66	1	0	0	0	0	0	0	0	1	14662	1103	39	5		5	SLC5A10	17	18918396	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1022191	18918396	62276814	74	6429											
PSMD12	5718	broad.mit.edu	37	chr17	65340732	65340732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattcttacatgttcaacaActctgttcttcaagtctttc	10	17	4	10	0	6	1	2	0	4	1	7	1	6	1	0	0	3	2	0	0	4	6	rs2230680	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:65340732A>G	ENST00000356126.3	-	9	1180	c.1073T>C	c.(1072-1074)gTt>gCt	p.V358A	PSMD12_ENST00000357146.4_Missense_Mutation_p.V338A	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	358	PCI.		V -> A (in dbSNP:rs2230680).		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 accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					ATGTTCAACAACTCTGTTCTT	0.328													A|||	8	0.00159744	0.0061	0	5008	,	,		17078	0		0	False		,,,				2504	0					.											0								A	ALA/VAL,ALA/VAL	34,4372	38.4+/-70.7	1,32,2170	83	81	82		1073,1013	5.6	1	17	dbSNP_98	82	0,8600		0,0,4300	yes	missense,missense	PSMD12	NM_002816.3,NM_174871.2	64,64	1,32,6470	GG,GA,AA		0.0,0.7717,0.2614	probably-damaging,probably-damaging	358/457,338/437	65340732	34,12972	2203	4300	6503	SO:0001583	missense	5718			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1073T>C	17.37:g.65340732A>G	ENSP00000348442:p.Val358Ala		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	CCDS11669.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	25.4	4.635451	0.87760	0.007717	0.0	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.33654	1.4;1.4	5.59	5.59	0.84812	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.93462	3.42	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72338	0.977;0.977	T	0.76961	-0.2765	10	0.87932	D	0	-21.0461	15.7585	0.78058	1.0:0.0:0.0:0.0	rs2230680;rs35331578;rs2230680	338;358	A6NP15;O00232	.;PSD12_HUMAN	A	358;338	ENSP00000348442:V358A;ENSP00000349667:V338A	ENSP00000348442:V358A	V	-	2	0	PSMD12	62771194	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.894000	0.69806	2.121000	0.65114	0.397000	0.26171	GTT		0.328	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		G	65340732	A	G	65340732	3	3	66	1	0	0	0	0	1	0	0	0	12695	43	2	2	309	2	PSMD12	17	65340732	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	46422336	65340732	15854478	75	6430											
EVPL	2125	bcgsc.ca	37	chr17	74006474	74006474	+	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	ctgcagcagttggctcctctGcgcctccagctcatgctgca	5	10	10	16	1	2	0	1	0	1	0	4	0	4	0	3	1	6	7	3	1	0	1	rs151046085		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:74006474G>A	ENST00000301607.3	-	22	3065	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q960*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	938	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGCTCCTCTGCGCCTCCAGC	0.662																																						.											0								G	stop/GLN	2,4404	2.1+/-5.4	0,2,2201	39	40	40		2812	4.8	1	17	dbSNP_134	40	0,8600		0,0,4300	yes	stop-gained	EVPL	NM_001988.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		938/2034	74006474	2,13004	2203	4300	6503	SO:0001587	stop_gained	2125			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.2812C>T	17.37:g.74006474G>A	ENSP00000301607:p.Gln938*		A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	37	6.602199	0.97697	4.54E-4	0.0	ENSG00000167880	ENST00000301607	.	.	.	4.85	4.85	0.62838	.	0.342375	0.31589	N	0.007395	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-31.8895	13.3284	0.60473	0.0:0.0:0.842:0.158	.	.	.	.	X	938	.	ENSP00000301607:Q938X	Q	-	1	0	EVPL	71518069	1.000000	0.71417	0.978000	0.43139	0.142000	0.21351	3.745000	0.55119	2.397000	0.81536	0.561000	0.74099	CAG		0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74006474	G	A	74006474	4	1	66	1	0	0	0	0	0	1	0	0	5292	1328	46	4	3293	4	EVPL	17	74006474	Nonsense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	8665742	74006474	7188736	76	6431											
P4HB	5034	hgsc.bcm.edu	37	chr17	79801890	79801891	+	Stop_Codon_Del	DEL	AC	AC	-																															cgggtctggctttgcgtattAcagttcatctttcacagctt																										TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:79801890_79801891delAC	ENST00000331483.4	-	0	1746_1747				P4HB_ENST00000439918.2_Stop_Codon_Del|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Intron|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide						cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TTTGCGTATTACAGTTCATCTT	0.609																																					Colon(49;444 983 1296 7887 42561)	.											0																																										SO:0001567	stop_retained_variant	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	Exception_encountered	17.37:g.79801890_79801891delAC	Exception_encountered		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Frame_Shift_Del	DEL	ENST00000331483.4	37	CCDS11787.1																																																																																				0.609	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		-	79801891	AC	-	79801890	7	5	66	1	0	1	0	1	0	0	0	0	11359	404	14	0	5	0	P4HB	17	79801890	Stop_Codon_Del	DEL	AC	TCGA-KO-8417-01A-11D-2310-10	5795416	79801890	1393320	77	6432	178	2									
P4HB	5034	bcgsc.ca	37	chr17	79801891	79801892	+	Frame_Shift_Del	DEL	AC	AC	-																															gggtctggctttgcgtattaCagttcatctttcacagcttt																										TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr17:79801891_79801892delAC	ENST00000331483.4	-	11	1745_1746	c.1523_1524delGT	c.(1522-1524)cgtfs	p.R508fs	P4HB_ENST00000439918.2_Frame_Shift_Del_p.R464fs|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Intron|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	508					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TTGCGTATTACAGTTCATCTTT	0.609																																					Colon(49;444 983 1296 7887 42561)	.											0																																										SO:0001589	frameshift_variant	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1523_1524delGT	17.37:g.79801891_79801892delAC	ENSP00000327801:p.Arg508fs		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Frame_Shift_Del	DEL	ENST00000331483.4	37	CCDS11787.1																																																																																				0.609	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		-	79801892	AC	-	79801891	7	5	66	1	0	1	0	1	0	0	0	0	11359	465	17	0	6	0	P4HB	17	79801891	Frame_Shift_Del	DEL	AC	TCGA-KO-8417-01A-11D-2310-10	1	79801891	1393319	78	6433	178	2									
POTEC	388468	mdanderson.org	37	chr18	14542884	14542884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtcttcataaaggagtTgtcatggtctccagaagtgc	10	11	12	8	1	4	1	2	0	2	1	5	3	4	2	1	2	2	1	1	2	3	3	rs201764782		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr18:14542884T>C	ENST00000358970.5	-	1	261	c.262A>G	c.(262-264)Aac>Gac	p.N88D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	88										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATAAAGGAGTTGTCATGGTCT	0.607																																						.											0													53	58	56					18																	14542884		692	1591	2283	SO:0001583	missense	388468			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.262A>G	18.37:g.14542884T>C	ENSP00000351856:p.Asn88Asp			Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.420683	0.00188	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.22539	1.95	.	.	.	.	.	.	.	.	T	0.03390	0.0098	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25152	-1.0140	7	0.02654	T	1	.	.	.	.	.	88	B2RU33	POTEC_HUMAN	D	88	ENSP00000351856:N88D	ENSP00000351856:N88D	N	-	1	0	POTEC	14532884	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.876000	0.04201	-1.345000	0.02214	-1.352000	0.01234	AAC		0.607	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		C	14542884	T	C	14542884	3	2	66	1	0	0	0	0	1	0	0	0	12262	1812	63	4	1410	4	POTEC	18	14542884	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		14542884	63534364	79	6434											
GRIN3B	116444	mdanderson.org	37	chr19	1009585	1009585	+	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	cccaccacactctggccgacCggggagccaggaatgaggcg	9	3	14	15	3	1	1	0	1	1	0	1	4	1	3	5	5	1	0	5	5	1	0	rs10401454	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:1009585C>G	ENST00000234389.3	+	9	3135	c.3116C>G	c.(3115-3117)cCg>cGg	p.P1039R		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	1039					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)	TCTGGCCGACCGGGGAGCCAG	0.652													-|||	1279	0.255391	0.2859	0.2565	5008	,	,		9642	0.1478		0.3171	False		,,,				2504	0.2607					.											0									ARG/PRO	490,2270		45,400,935	2	2	2		3116	-3.6	0	19	dbSNP_119	2	1532,4650		199,1134,1758	yes	missense	GRIN3B	NM_138690.1	103	244,1534,2693	GG,GC,CC		24.7816,17.7536,22.6124	benign	1039/1044	1009585	2022,6920	1380	3091	4471	SO:0001583	missense	116444				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.3116C>G	19.37:g.1009585C>G	ENSP00000234389:p.Pro1039Arg		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	564	0.25824175824175827	140	0.2845528455284553	104	0.287292817679558	73	0.12762237762237763	247	0.3258575197889182	C	3.647	-0.072382	0.07228	0.177536	0.247816	ENSG00000116032	ENST00000234389	T	0.11063	2.81	3.71	-3.57	0.04612	.	603.621000	0.00817	U	0.001548	T	0.00012	0.0000	N	0.08118	0	0.54753	P	1.6000000000016E-5	B	0.14805	0.011	B	0.04013	0.001	T	0.41787	-0.9489	9	0.07030	T	0.85	.	2.269	0.04086	0.1122:0.3933:0.2254:0.2691	rs10401454;rs58830778	1039	O60391	NMD3B_HUMAN	R	1039	ENSP00000234389:P1039R	ENSP00000234389:P1039R	P	+	2	0	GRIN3B	960585	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.539000	0.00937	-0.787000	0.04510	-2.078000	0.00380	CCG		0.652	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			G	1009585	C	G	1009585	3	3	66	1	0	0	0	0	1	0	0	0	6784	652	23	5	3150	5	GRIN3B	19	1009585	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10		1009585	58119398	80	6435											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	chr19	8994179	8994179	+	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	gcagccagagtacagagggcCaacactggtgttcttgaaca	12	7	12	10	0	1	3	0	1	1	2	1	3	1	3	2	2	4	3	2	2	3	3			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:8994179C>T	ENST00000397910.4	-	65	41709	c.41506G>A	c.(41506-41508)Ggc>Agc	p.G13836S	MUC16_ENST00000380951.5_Missense_Mutation_p.G477S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13839	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACAGAGGGCCAACACTGGTG	0.522																																						.											0													115	101	106					19																	8994179		1999	4173	6172	SO:0001583	missense	94025			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.41506G>A	19.37:g.8994179C>T	ENSP00000381008:p.Gly13836Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.812775	0.50527	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.39056	1.1;1.1	3.74	1.56	0.23342	SEA (1);	0.203527	0.24523	N	0.037787	T	0.54013	0.1832	M	0.64997	1.995	.	.	.	P;D	0.71674	0.907;0.998	P;D	0.80764	0.623;0.994	T	0.61559	-0.7038	9	0.56958	D	0.05	.	6.2106	0.20628	0.0:0.7621:0.0:0.2379	.	21481;13836	Q8WXI7;B5ME49	MUC16_HUMAN;.	S	13836;477	ENSP00000381008:G13836S;ENSP00000370338:G477S	ENSP00000370338:G477S	G	-	1	0	MUC16	8855179	0.017000	0.18338	0.001000	0.08648	0.196000	0.23810	1.901000	0.39838	0.387000	0.25024	-0.157000	0.13467	GGC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8994179	C	T	8994179	3	4	66	1	0	0	0	0	1	0	0	0	9973	594	21	4	2097	4	MUC16	19	8994179	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	7984594	8994179	50134804	81	6436											
CCDC123	84902	hgsc.bcm.edu	37	chr19	33444556	33444556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcgtacaggtcatcacTgtggcctcctctgtcctccc	6	10	8	17	1	3	0	2	0	1	0	6	0	6	0	4	2	2	1	4	2	1	1	rs73579706	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:33444556T>C	ENST00000305768.5	-	4	545	c.457A>G	c.(457-459)Agt>Ggt	p.S153G	CEP89_ENST00000590597.2_Missense_Mutation_p.S153G	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	153					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AGGTCATCACTGTGGCCTCCT	0.483																																						.											0													401	426	418					19																	33444556		2203	4300	6503	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.457A>G	19.37:g.33444556T>C	ENSP00000306105:p.Ser153Gly		B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	3.578	-0.086165	0.07097	.	.	ENSG00000121289	ENST00000305768	T	0.31510	1.49	5.12	-10.2	0.00374	.	3.796690	0.00695	N	0.000748	T	0.07234	0.0183	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.34725	-0.9817	10	0.22706	T	0.39	7.6155	0.6143	0.00767	0.2371:0.2982:0.1712:0.2935	.	124;153;153	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	G	153	ENSP00000306105:S153G	ENSP00000306105:S153G	S	-	1	0	CEP89	38136396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.650000	0.01991	-4.026000	0.00080	-0.951000	0.02657	AGT		0.483	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		C	33444556	T	C	33444556	3	2	66	1	0	0	0	0	1	0	0	0	2759	1580	55	2	1958	2	CCDC123	19	33444556	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	24450377	33444556	25684427	82	6437											
NUMBL	9253	mdanderson.org	37	chr19	41173898	41173898	+	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	tgctgctgctgctgctgctgTtgctgttgctgctgctgctg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2	rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:41173898T>C	ENST00000252891.4	-	10	1472	c.1305A>G	c.(1303-1305)caA>caG	p.Q435Q	NUMBL_ENST00000540131.1_Silent_p.Q394Q|NUMBL_ENST00000598779.1_Silent_p.Q394Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	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)			gctgctgctgttgctgttgct	0.667																																						.											0													5	6	6					19																	41173898		1943	3908	5851	SO:0001819	synonymous_variant	9253			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.1305A>G	19.37:g.41173898T>C			Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																				0.667	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		C	41173898	T	C	41173898	2	2	66	1	0	0	0	0	0	0	0	1	10752	1722	60	2		2	NUMBL	19	41173898	Silent	SNP	T	TCGA-KO-8417-01A-11D-2310-10	7729342	41173898	17955085	83	6438											
PSG4	5672	mdanderson.org	37	chr19	43709647	43709647	+	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	gtgagcaggacccccttccaGgtgatgcgctgtgtgcaggg	6	8	16	11	1	0	2	0	2	0	0	1	3	1	3	3	3	3	3	3	3	0	1	rs12985206	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:43709647G>A	ENST00000405312.3	-	1	279	c.42C>T	c.(40-42)acC>acT	p.T14T	PSG4_ENST00000244295.9_Silent_p.T14T|PSG4_ENST00000433626.2_Silent_p.T14T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	14					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)				CCCCCTTCCAGGTGATGCGCT	0.597													G|||	3276	0.654153	0.6392	0.5274	5008	,	,		13710	0.7966		0.5865	False		,,,				2504	0.6871					.											0													62	61	61					19																	43709647		2186	4271	6457	SO:0001819	synonymous_variant	5672				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.42C>T	19.37:g.43709647G>A			E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	CCDS46093.1																																																																																				0.597	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		A	43709647	G	A	43709647	2	1	66	1	0	0	0	0	0	0	0	1	12657	987	35	4		4	PSG4	19	43709647	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	2535749	43709647	15419336	84	6439											
ZNF180	7733	broad.mit.edu	37	chr19	44982053	44982053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatacatgtttatgaaaatgGtttcttatgggtataactgg	12	16	10	3	0	1	1	0	1	1	0	1	2	1	1	0	3	2	3	0	3	7	7			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:44982053G>T	ENST00000221327.4	-	5	926	c.645C>A	c.(643-645)aaC>aaA	p.N215K	ZNF180_ENST00000391956.4_Missense_Mutation_p.N190K|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Missense_Mutation_p.N188K|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	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)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TATGAAAATGGTTTCTTATGG	0.353																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	.											0													87	87	87					19																	44982053		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.645C>A	19.37:g.44982053G>T	ENSP00000221327:p.Asn215Lys		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	0.572	-0.840767	0.02692	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.06528	3.29;3.33	4.89	1.36	0.22044	.	0.296949	0.24386	N	0.038980	T	0.03739	0.0106	L	0.34521	1.04	0.25773	N	0.984811	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.13407	0.009;0.004;0.004	T	0.39143	-0.9628	10	0.19147	T	0.46	-18.0554	1.5731	0.02619	0.1888:0.1773:0.4719:0.1619	.	190;214;215	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	K	215;190	ENSP00000221327:N215K;ENSP00000375818:N190K	ENSP00000221327:N215K	N	-	3	2	ZNF180	49673893	1.000000	0.71417	0.551000	0.28230	0.022000	0.10575	2.874000	0.48483	0.651000	0.30788	0.655000	0.94253	AAC		0.353	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		T	44982053	G	T	44982053	3	4	66	1	0	0	0	0	1	0	0	0	17745	1252	44	5	1437	5	ZNF180	19	44982053	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1272406	44982053	14146930	85	6440											
ZNF577	84765	bcgsc.ca	37	chr19	52375849	52375849	+	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	ctgatggggccacattcactTcatttgtgaggcttattctc	7	15	9	10	0	3	2	2	2	1	0	4	2	3	2	1	3	0	1	1	3	1	5			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr19:52375849T>A	ENST00000301399.5	-	7	1759	c.1394A>T	c.(1393-1395)gAa>gTa	p.E465V	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.E406V|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.E406V	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACATTCACTTCATTTGTGAG	0.348																																						.											0													59	56	57					19																	52375849		2203	4300	6503	SO:0001583	missense	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1394A>T	19.37:g.52375849T>A	ENSP00000301399:p.Glu465Val		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	1.312	-0.601860	0.03744	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.07114	3.22;3.27;3.27;3.22	3.04	-3.78	0.04333	.	.	.	.	.	T	0.04952	0.0133	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39522	-0.9610	9	0.87932	D	0	.	4.5645	0.12177	0.5822:0.0:0.2307:0.1871	.	465;406	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	V	465;406;406;465	ENSP00000301399:E465V;ENSP00000413476:E406V;ENSP00000389652:E406V;ENSP00000404509:E465V	ENSP00000301399:E465V	E	-	2	0	ZNF577	57067661	0.000000	0.05858	0.023000	0.16930	0.157000	0.22087	-1.374000	0.02566	-0.952000	0.03649	-0.336000	0.08194	GAA		0.348	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		A	52375849	T	A	52375849	3	1	66	1	0	0	0	0	1	0	0	0	18006	1783	62	5	67	5	ZNF577	19	52375849	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10	7393796	52375849	6753134	86	6441											
MAVS	57506	bcgsc.ca	37	chr20	3838399	3838399	+	Missense_Mutation	SNP	T	T	A																															tcattgcggcactgaggggcTgtgagctagttgatctcgcg																								rs11908032|rs34591263	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr20:3838399T>A	ENST00000428216.2	+	3	363	c.235T>A	c.(235-237)Tgt>Agt	p.C79S	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Missense_Mutation_p.C79S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	79			C -> F (in dbSNP:rs11905552).|C -> S (in dbSNP:rs11908032).		activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ACTGAGGGGCTGTGAGCTAGT	0.632													T|||	180	0.0359425	0.1301	0.0086	5008	,	,		14935	0		0.002	False		,,,				2504	0					.											0								T	,SER/CYS	26,4380		10,6,2187	139	112	121		,235	4.7	0.9	20	dbSNP_120	121	0,8600		0,0,4300	yes	intron,missense	MAVS	NM_001206491.1,NM_020746.4	,112	10,6,6487	AA,AT,TT		0.0,0.5901,0.1999	,probably-damaging	,79/541	3838399	26,12980	2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.235T>A	20.37:g.3838399T>A	ENSP00000401980:p.Cys79Ser		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	CCDS33437.1	38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	T	10.77	1.442585	0.25987	0.005901	0.0	ENSG00000088888	ENST00000428216;ENST00000358134	T;T	0.09538	2.97;2.97	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.02083	0.0065	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.955;0.998;0.998	T	0.00032	-1.2277	10	0.51188	T	0.08	-14.2787	10.4331	0.44419	0.0:0.0:0.0:1.0	rs11908032	79;79;79	B2BD34;Q7Z434;Q7Z434-2	.;MAVS_HUMAN;.	S	79	ENSP00000401980:C79S;ENSP00000350852:C79S	ENSP00000350852:C79S	C	+	1	0	MAVS	3786399	0.993000	0.37304	0.915000	0.36163	0.035000	0.12851	3.409000	0.52657	1.950000	0.56595	0.496000	0.49642	TGT		0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		A	3838399	T	A	3838399	3	1	66	1	0	0	0	0	1	0	0	0	9338	1580	55	5	241	5	MAVS	20	3838399	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		3838399	59187121	87	6442	179	2									
MAVS	57506	mdanderson.org;bcgsc.ca	37	chr20	3838400	3838400	+	Missense_Mutation	SNP	G	G	T																															cattgcggcactgaggggctGtgagctagttgatctcgcgg																								rs11905552|rs34591263	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr20:3838400G>T	ENST00000428216.2	+	3	364	c.236G>T	c.(235-237)tGt>tTt	p.C79F	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Missense_Mutation_p.C79F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	79			C -> F (in dbSNP:rs11905552).|C -> S (in dbSNP:rs11908032).		activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTGAGGGGCTGTGAGCTAGTT	0.632													G|||	180	0.0359425	0.1301	0.0086	5008	,	,		14916	0		0.002	False		,,,				2504	0					.											0								G	,PHE/CYS	16,4390		7,2,2194	140	112	121		,236	4.7	1	20	dbSNP_120	121	0,8600		0,0,4300	yes	intron,missense	MAVS	NM_001206491.1,NM_020746.4	,205	7,2,6494	TT,TG,GG		0.0,0.3631,0.123	,probably-damaging	,79/541	3838400	16,12990	2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.236G>T	20.37:g.3838400G>T	ENSP00000401980:p.Cys79Phe		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	CCDS33437.1	38	0.0173992673992674	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	0	0.0	G	9.560	1.118096	0.20877	0.003631	0.0	ENSG00000088888	ENST00000428216;ENST00000358134	T;T	0.10960	2.82;2.82	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.01976	0.0062	L	0.50919	1.6	0.80722	D	1	P;D;D	0.89917	0.617;1.0;1.0	B;D;D	0.91635	0.221;0.999;0.999	T	0.00018	-1.2372	10	0.72032	D	0.01	-14.2787	12.9462	0.58373	0.0:0.0:1.0:0.0	rs11905552;rs11905552	79;79;79	B2BD34;Q7Z434;Q7Z434-2	.;MAVS_HUMAN;.	F	79	ENSP00000401980:C79F;ENSP00000350852:C79F	ENSP00000350852:C79F	C	+	2	0	MAVS	3786400	1.000000	0.71417	0.987000	0.45799	0.051000	0.14879	4.206000	0.58473	2.407000	0.81776	0.609000	0.83330	TGT		0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		T	3838400	G	T	3838400	3	4	66	1	0	0	0	0	1	0	0	0	9338	1377	48	5	242	5	MAVS	20	3838400	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	1	3838400	59187120	88	6443	179	2									
PPDPF	79144	hgsc.bcm.edu	37	chr20	62152686	62152687	+	Frame_Shift_Ins	INS	-	-	CC																															ggccatcccctccagcggctINScgctcgtggccacccacgac																								rs138230076		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr20:62152686_62152687insCC	ENST00000370179.3	+	2	221_222	c.25_26insCC	c.(25-27)tcgfs	p.S9fs	PPDPF_ENST00000473620.1_Intron|PPDPF_ENST00000370177.1_Frame_Shift_Ins_p.S9fs	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	9					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					kidney(1)|lung(2)|ovary(1)	4						CTCCAGCGGCTCGCTCGTGGCC	0.698																																						.											0																																										SO:0001589	frameshift_variant	79144			AL121829	CCDS13523.1	20q13.33	2013-07-23	2013-07-23	2009-06-04	ENSG00000125534	ENSG00000125534			16142	protein-coding gene	gene with protein product	"exocrine differentiation and proliferation factor"		"chromosome 20 open reading frame 149", "pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)"	C20orf149			Standard	NM_024299		Approved	dJ697K14.9, exdpf	uc002yff.3	Q9H3Y8	OTTHUMG00000032978	Exception_encountered	20.37:g.62152686_62152687insCC	ENSP00000359198:p.Ser9fs		E1P5J2|Q4VXP1|Q9H3Y7	Frame_Shift_Ins	INS	ENST00000370179.3	37	CCDS13523.1																																																																																				0.698	PPDPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080149.1			CC	62152687	-	CC	62152686	7	5	66	1	0	1	1	0	0	0	0	0	12306	1551	54	0	27	0	PPDPF	20	62152686	Frame_Shift_Ins	INS	-	TCGA-KO-8417-01A-11D-2310-10	58314286	62152686	872834	89	6444											
SRMS	6725	bcgsc.ca	37	chr20	62173561	62173561	+	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	cttgcgcatgagttccgtgaCgatgtacacaggctccccgc	7	9	11	14	4	0	2	0	2	0	0	2	3	2	2	3	1	2	4	3	1	1	3	rs310657	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr20:62173561C>G	ENST00000217188.1	-	5	941	c.901G>C	c.(901-903)Gtc>Ctc	p.V301L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> L (in dbSNP:rs310657). {ECO:0000269|PubMed:17344846}.		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)			AGTTCCGTGACGATGTACACA	0.677													C|||	579	0.115615	0.3608	0.0576	5008	,	,		16696	0.0139		0.0258	False		,,,				2504	0.0225					.											0								C	LEU/VAL	1389,3009	452.2+/-349.9	215,959,1025	96	76	83		901	4.6	1	20	dbSNP_79	83	166,8434	77.5+/-140.1	0,166,4134	yes	missense	SRMS	NM_080823.2	32	215,1125,5159	GG,GC,CC		1.9302,31.5825,11.9634	probably-damaging	301/489	62173561	1555,11443	2199	4300	6499	SO:0001583	missense	6725				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.901G>C	20.37:g.62173561C>G	ENSP00000217188:p.Val301Leu			Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	235	0.10760073260073261	192	0.3902439024390244	16	0.04419889502762431	10	0.017482517482517484	17	0.022427440633245383	C	17.54	3.416230	0.62511	0.315825	0.019302	ENSG00000125508	ENST00000217188	D	0.87179	-2.22	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124501	0.35936	N	0.002882	T	0.00012	0.0000	L	0.53780	1.695	0.31636	P	0.648475	B	0.33549	0.417	P	0.45377	0.478	T	0.01706	-1.1291	9	0.87932	D	0	.	12.0155	0.53311	0.0:0.9126:0.0:0.0873	rs310657;rs311541;rs1757734;rs58635261;rs310657	301	Q9H3Y6	SRMS_HUMAN	L	301	ENSP00000217188:V301L	ENSP00000217188:V301L	V	-	1	0	SRMS	61644005	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	1.512000	0.35812	2.120000	0.65058	0.561000	0.74099	GTC		0.677	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		G	62173561	C	G	62173561	3	3	66	1	0	0	0	0	1	0	0	0	15151	536	19	5	581	5	SRMS	20	62173561	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	20875	62173561	851959	90	6445											
ERG	2078	mdanderson.org	37	chr21	39795360	39795360	+	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	acgataactctgcgctcgttCgtggtcatgtttgggggtgg	5	13	15	8	4	2	0	1	0	1	0	4	1	2	0	0	4	2	3	0	4	1	3	rs200326224		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr21:39795360C>T	ENST00000417133.2	-	5	566	c.381G>A	c.(379-381)acG>acA	p.T127T	ERG_ENST00000288319.7_Silent_p.T120T|ERG_ENST00000398905.1_Silent_p.T120T|ERG_ENST00000398911.1_Silent_p.T127T|ERG_ENST00000453032.2_Silent_p.T28T|ERG_ENST00000398919.2_Silent_p.T127T|ERG_ENST00000398897.1_Silent_p.T28T|ERG_ENST00000442448.1_Silent_p.T127T|ERG_ENST00000398910.1_Silent_p.T127T|ERG_ENST00000429727.2_Silent_p.T120T|ERG_ENST00000398907.1_Silent_p.T120T	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	145	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGCGCTCGTTCGTGGTCATGT	0.607			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								C|||	1	0.000199681	0	0	5008	,	,		15792	0		0.001	False		,,,				2504	0				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"	0								C	,,,	0,4406		0,0,2203	240	155	184		381,84,381,360	-6.6	0.6	21		184	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ERG	NM_001136154.1,NM_001136155.1,NM_004449.4,NM_182918.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	127/487,28/388,127/463,120/480	39795360	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2078				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.381G>A	21.37:g.39795360C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	CCDS46648.1																																																																																				0.607	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		T	39795360	C	T	39795360	2	4	66	1	0	0	0	0	0	0	0	1	5222	871	31	1		1	ERG	21	39795360	Silent	SNP	C	TCGA-KO-8417-01A-11D-2310-10		39795360	8334535	91	6446											
KRTAP12-2	353323	bcgsc.ca	37	chr21	46086377	46086377	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctcagcagcaggaagAgatactgtaggagatgggtc	12	8	14	7	0	2	2	2	0	0	2	3	5	2	3	0	3	4	4	0	3	3	2	rs2838622	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr21:46086377A>G	ENST00000360770.3	-	1	467	c.427T>C	c.(427-429)Tct>Cct	p.S143P	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	143			S -> P (in dbSNP:rs2838622).			keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						CAGCAGGAAGAGATACTGTAG	0.602													G|||	2918	0.582668	0.6967	0.5403	5008	,	,		19253	0.5655		0.492	False		,,,				2504	0.5695					.											0								G	,PRO/SER	2893,1387		1004,885,251	54	59	57		,427	1.8	0	21	dbSNP_100	57	3867,4609		924,2019,1295	yes	intron,missense	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,74	1928,2904,1546	GG,GA,AA		45.6229,32.4065,47.0053	,benign	,143/147	46086377	6760,5996	2140	4238	6378	SO:0001583	missense	353323			AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"Keratin associated proteins"	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.427T>C	21.37:g.46086377A>G	ENSP00000354001:p.Ser143Pro		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	CCDS42965.1	1234	0.565018315018315	353	0.717479674796748	203	0.5607734806629834	303	0.5297202797202797	375	0.4947229551451187	g	0.003	-2.494097	0.00159	0.675935	0.456229	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.02067	4.47	3.62	1.78	0.24846	.	.	.	.	.	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.15780	-1.0425	8	0.02654	T	1	.	5.8109	0.18465	0.3543:0.0:0.6457:0.0	rs2838622;rs61048872;rs2838622	143	P59991	KR122_HUMAN	P	143;93	ENSP00000354001:S143P	ENSP00000354001:S143P	S	-	1	0	KRTAP12-2	44910805	0.003000	0.15002	0.002000	0.10522	0.008000	0.06430	-0.301000	0.08232	-0.049000	0.13379	-0.355000	0.07637	TCT		0.602	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		G	46086377	A	G	46086377	3	3	66	1	0	0	0	0	1	0	0	0	8519	304	11	2	17	2	KRTAP12-2	21	46086377	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	6291017	46086377	2043518	92	6447											
CDC42EP1	11135	mdanderson.org	37	chr22	37964429	37964429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcctgctgcaaaccccTcagcacctgccgcaaccccc	8	4	7	22	2	1	0	1	0	0	0	1	0	1	0	7	0	7	4	7	0	2	0	rs200195385|rs62235034|rs66468174	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:37964429T>C	ENST00000249014.4	+	3	1198	c.778T>C	c.(778-780)Tca>Cca	p.S260P		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	260	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)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					TGCAAACCCCTCAGCACCTGC	0.667																																						.											3	Deletion - In frame(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)											12	10	11					22																	37964429		2168	3775	5943	SO:0001583	missense	11135			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.778T>C	22.37:g.37964429T>C	ENSP00000249014:p.Ser260Pro		A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	CCDS13949.1	812	0.3717948717948718	78	0.15853658536585366	183	0.505524861878453	155	0.270979020979021	396	0.5224274406332454	T	0.070	-1.204174	0.01568	.	.	ENSG00000128283	ENST00000249014	T	0.31769	1.48	1.93	-3.86	0.04230	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45011	-0.9290	8	0.06236	T	0.91	.	1.0989	0.01680	0.1719:0.4066:0.17:0.2515	rs62235034	260	Q00587	BORG5_HUMAN	P	260	ENSP00000249014:S260P	ENSP00000249014:S260P	S	+	1	0	CDC42EP1	36294375	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.184000	0.09698	-1.081000	0.03105	-1.073000	0.02249	TCA		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		C	37964429	T	C	37964429	3	2	66	1	0	0	0	0	1	0	0	0	3075	1551	54	2	784	2	CDC42EP1	22	37964429	Missense_Mutation	SNP	T	TCGA-KO-8417-01A-11D-2310-10		37964429	13340137	93	6448											
BAIAP2L2	80115	mdanderson.org	37	chr22	38483172	38483172	+	Silent	SNP	G	G	T																															gggttcatgggtgtcatgggGgacatggaggtcatggaggt																								rs539447143	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:38483172G>T	ENST00000381669.3	-	11	1362	c.1218C>A	c.(1216-1218)tcC>tcA	p.S406S	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	406					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)					gtgtcatgggggacatggagg	0.662													G|||	30	0.00599042	0.0068	0.0014	5008	,	,		13061	0		0.004	False		,,,				2504	0.0164					.											0													31	37	35					22																	38483172		1925	4122	6047	SO:0001819	synonymous_variant	80115			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.1218C>A	22.37:g.38483172G>T			B0QYE2|Q96BG7	Silent	SNP	ENST00000381669.3	37	CCDS43018.1																																																																																				0.662	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		T	38483172	G	T	38483172	2	4	66	1	0	0	0	0	0	0	0	1	1303	1219	43	5		5	BAIAP2L2	22	38483172	Silent	SNP	G	TCGA-KO-8417-01A-11D-2310-10	518743	38483172	12821394	94	6449	180	3									
BAIAP2L2	80115	mdanderson.org	37	chr22	38483174	38483174	+	Missense_Mutation	SNP	A	A	T																															gttcatgggtgtcatgggggAcatggaggtcatggaggtca																								rs374089121|rs200930717|rs78489217	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:38483174A>T	ENST00000381669.3	-	11	1360	c.1216T>A	c.(1216-1218)Tcc>Acc	p.S406T	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	406					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)	p.M405_S406insTSM(1)		large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gtcatgggggacatggaggtc	0.657													A|||	84	0.0167732	0.0076	0.0159	5008	,	,		13137	0.001		0.0278	False		,,,				2504	0.0348					.											1	Insertion - In frame(1)	ovary(1)											32	38	36					22																	38483174		1925	4121	6046	SO:0001583	missense	80115			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.1216T>A	22.37:g.38483174A>T	ENSP00000371085:p.Ser406Thr		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	CCDS43018.1	254	0.1163003663003663	58	0.11788617886178862	58	0.16022099447513813	32	0.055944055944055944	106	0.13984168865435356	A	0.010	-1.753658	0.00663	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000428572	T;T	0.21543	2.0;2.0	0.235	-0.47	0.12131	.	2.310980	0.01612	N	0.022579	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27434	-1.0074	9	0.18276	T	0.48	.	.	.	.	.	406	Q6UXY1	BI2L2_HUMAN	T	406;406;97	ENSP00000371085:S406T;ENSP00000410074:S97T	ENSP00000371085:S406T	S	-	1	0	BAIAP2L2	36813120	0.121000	0.22262	0.001000	0.08648	0.001000	0.01503	0.410000	0.21098	-2.434000	0.00554	-2.582000	0.00168	TCC		0.657	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		T	38483174	A	T	38483174	3	4	66	1	0	0	0	0	1	0	0	0	1303	275	10	5	389	5	BAIAP2L2	22	38483174	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	2	38483174	12821392	95	6450	180	3									
BAIAP2L2	80115	mdanderson.org	37	chr22	38483180	38483180	+	Missense_Mutation	SNP	A	A	G																															gggtgtcatgggggacatggAggtcatggaggtcatggggg																								rs111783779	byFrequency	TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:38483180A>G	ENST00000381669.3	-	11	1354	c.1210T>C	c.(1210-1212)Tcc>Ccc	p.S404P	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	404					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)					ggggacatggaggtcatggag	0.657													A|||	14	0.00279553	0.0061	0	5008	,	,		13299	0		0.001	False		,,,				2504	0.0051					.											0													34	41	39					22																	38483180		1927	4124	6051	SO:0001583	missense	80115			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.1210T>C	22.37:g.38483180A>G	ENSP00000371085:p.Ser404Pro		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	A	1.092	-0.663862	0.03428	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000428572	T;T	0.21031	2.03;2.03	0.208	0.208	0.15221	.	2.204600	0.02525	N	0.093019	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	9	0.05436	T	0.98	.	.	.	.	.	404	Q6UXY1	BI2L2_HUMAN	P	404;404;95	ENSP00000371085:S404P;ENSP00000410074:S95P	ENSP00000371085:S404P	S	-	1	0	BAIAP2L2	36813126	0.009000	0.17119	0.004000	0.12327	0.001000	0.01503	0.089000	0.15002	-0.794000	0.04468	-0.795000	0.03280	TCC		0.657	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		G	38483180	A	G	38483180	3	3	66	1	0	0	0	0	1	0	0	0	1303	304	11	2	395	2	BAIAP2L2	22	38483180	Missense_Mutation	SNP	A	TCGA-KO-8417-01A-11D-2310-10	6	38483180	12821386	96	6451	180	3									
PHF21B	112885	hgsc.bcm.edu	37	chr22	45283998	45283998	+	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	gtgctcatcgtgggtgatctCgttctggaagagaagggagg	8	10	17	6	2	3	2	1	1	2	1	5	5	3	4	0	4	1	2	0	4	2	1			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chr22:45283998C>G	ENST00000313237.5	-	10	1192	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	PHF21B_ENST00000447824.3_Missense_Mutation_p.R286P|PHF21B_ENST00000403565.1_Missense_Mutation_p.E144Q|PHF21B_ENST00000396103.3_Missense_Mutation_p.E306Q|PHF21B_ENST00000404079.2_Missense_Mutation_p.E294Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	348							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)		TGGGTGATCTCGTTCTGGAAG	0.692																																						.											0													12	11	12					22																	45283998		2109	4127	6236	SO:0001583	missense	112885			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.1042G>C	22.37:g.45283998C>G	ENSP00000324403:p.Glu348Gln		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	CCDS14061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.68|12.68	2.009195|2.009195	0.35415|0.35415	.|.	.|.	ENSG00000056487|ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079|ENST00000447824	T;T;T;T|T	0.55413|0.42900	0.52;0.52;0.52;0.52|0.96	4.13|4.13	4.13|4.13	0.48395|0.48395	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.080425|.	0.48286|.	D|.	0.000197|.	T|T	0.39572|0.39572	0.1083|0.1083	L|L	0.45581|0.45581	1.43|1.43	0.35018|0.35018	D|D	0.757597|0.757597	D;D;D;D|B	0.67145|0.09022	0.99;0.964;0.996;0.989|0.002	P;P;P;P|B	0.60949|0.08055	0.869;0.676;0.881;0.794|0.003	T|T	0.50583|0.50583	-0.8811|-0.8811	10|9	0.33141|0.48119	T|T	0.24|0.1	-28.4847|-28.4847	16.5776|16.5776	0.84705|0.84705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	306;294;348;144|286	Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5|B7Z657	.;.;PF21B_HUMAN;.|.	Q|P	144;348;306;294|286	ENSP00000385053:E144Q;ENSP00000324403:E348Q;ENSP00000379410:E306Q;ENSP00000385105:E294Q|ENSP00000388619:R286P	ENSP00000324403:E348Q|ENSP00000388619:R286P	E|R	-|-	1|2	0|0	PHF21B|PHF21B	43662662|43662662	0.999000|0.999000	0.42202|0.42202	0.884000|0.884000	0.34674|0.34674	0.105000|0.105000	0.19272|0.19272	4.394000|4.394000	0.59671|0.59671	2.106000|2.106000	0.64143|0.64143	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.692	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		G	45283998	C	G	45283998	3	3	66	1	0	0	0	0	1	0	0	0	11834	893	31	5	569	5	PHF21B	22	45283998	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	6800818	45283998	6020568	97	6452											
CXorf22	170063	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	35969403	35969403	+	Missense_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	atcaaaaattaaacatgcacGtgtatacaataatagcccag	19	9	5	8	1	1	0	1	0	0	0	1	0	1	0	1	0	4	2	1	0	9	5			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:35969403G>A	ENST00000297866.5	+	5	878	c.812G>A	c.(811-813)cGt>cAt	p.R271H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	271										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAACATGCACGTGTATACAAT	0.413																																						.											0													72	63	66					X																	35969403		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.812G>A	X.37:g.35969403G>A	ENSP00000297866:p.Arg271His		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	3.433	-0.115726	0.06881	.	.	ENSG00000165164	ENST00000297866	T	0.13420	2.59	5.76	3.31	0.37934	.	0.993117	0.08188	N	0.984326	T	0.10594	0.0259	L	0.36672	1.1	0.09310	N	1	P	0.52316	0.952	B	0.44044	0.439	T	0.14783	-1.0460	10	0.14252	T	0.57	-20.7771	2.0991	0.03675	0.2631:0.0768:0.1427:0.5173	.	271	Q6ZTR5	CX022_HUMAN	H	271	ENSP00000297866:R271H	ENSP00000297866:R271H	R	+	2	0	CXorf22	35879324	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	0.902000	0.28459	0.264000	0.21851	-0.490000	0.04691	CGT		0.413	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35969403	G	A	35969403	3	1	66	1	0	0	0	0	1	0	0	0	4102	1145	40	1	830	1	CXorf22	23	35969403	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10		35969403	119301157	98	6453											
PDZD11	51248	broad.mit.edu;mdanderson.org;bcgsc.ca	37	chrX	69506937	69506937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggctgcaactttctagtGcacagtcctctctttttggc	5	15	10	11	0	2	0	0	0	2	0	4	0	3	0	1	2	3	3	1	2	2	4			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:69506937G>T	ENST00000239666.4	-	7	550	c.418C>A	c.(418-420)Cac>Aac	p.H140N	PDZD11_ENST00000374454.1_Missense_Mutation_p.H140N|PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000374388.3_5'Flank	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	140						basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						ACTTTCTAGTGCACAGTCCTC	0.483																																						.											0													58	47	51					X																	69506937		2202	4297	6499	SO:0001583	missense	51248			AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.418C>A	X.37:g.69506937G>T	ENSP00000239666:p.His140Asn		D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170797	0.78452	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.39997	1.05;1.05	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.981	D;D	0.75484	0.986;0.932	T	0.56902	-0.7902	10	0.87932	D	0	.	17.55	0.87873	0.0:0.0:1.0:0.0	.	171;140	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	N	140	ENSP00000239666:H140N;ENSP00000363578:H140N	ENSP00000239666:H140N	H	-	1	0	PDZD11	69423662	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.142000	0.77339	2.618000	0.88619	0.600000	0.82982	CAC		0.483	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		T	69506937	G	T	69506937	3	4	66	1	0	0	0	0	1	0	0	0	11700	1319	46	5	8	5	PDZD11	23	69506937	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	33537534	69506937	85763623	99	6454											
RPS6KA6	27330	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	chrX	83361951	83361951	+	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	aatacatttgcacttgtgatAggagtgattttatattcttc	11	18	7	5	0	1	2	0	2	1	0	2	3	1	3	0	1	2	1	0	1	5	9			TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:83361951A>G	ENST00000262752.2	-	14	1216	c.1209T>C	c.(1207-1209)ccT>ccC	p.P403P	RPS6KA6_ENST00000543399.1_Silent_p.P403P|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	403					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						CACTTGTGATAGGAGTGATTT	0.353																																						.											0													78	72	74					X																	83361951		2202	4300	6502	SO:0001819	synonymous_variant	27330			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.1209T>C	X.37:g.83361951A>G			B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	CCDS14451.1																																																																																				0.353	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		G	83361951	A	G	83361951	2	3	66	1	0	0	0	0	0	0	0	1	13655	407	15	2		2	RPS6KA6	23	83361951	Silent	SNP	A	TCGA-KO-8417-01A-11D-2310-10	13855014	83361951	71908609	100	6455											
RBMX	27316	mdanderson.org	37	chrX	135956462	135956462	+	Missense_Mutation	SNP	G	G	C																															ttgtctgccaacccgatcacGaccacttgagtagagatcac																								rs74463481		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:135956462G>C	ENST00000320676.7	-	9	1169	c.1015C>G	c.(1015-1017)Cgt>Ggt	p.R339G	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Missense_Mutation_p.R211G|RBMX_ENST00000570135.1_Missense_Mutation_p.R204G|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_3'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	339	Necessary for RNA-binding.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACCCGATCACGACCACTTGAG	0.537																																						.											0																																										SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.1015C>G	X.37:g.135956462G>C	ENSP00000359645:p.Arg339Gly		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.824057	0.32237	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.81247	-1.47	5.4	4.54	0.55810	.	0.000000	0.85682	U	0.000000	T	0.77350	0.4117	L	0.59436	1.845	0.19300	P	0.9999701562	P	0.47034	0.889	B	0.40101	0.319	D	0.84520	0.0627	9	0.72032	D	0.01	.	13.8398	0.63432	0.0758:0.0:0.9242:0.0	.	339	P38159	HNRPG_HUMAN	G	339;326	ENSP00000359645:R339G	ENSP00000359645:R339G	R	-	1	0	RBMX	135784128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.693000	0.61753	1.168000	0.42723	-0.176000	0.13171	CGT		0.537	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		C	135956462	G	C	135956462	3	2	66	1	0	0	0	0	1	0	0	0	13151	1058	37	5	219	5	RBMX	23	135956462	Missense_Mutation	SNP	G	TCGA-KO-8417-01A-11D-2310-10	52594511	135956462	19314098	101	6456	181	2									
RBMX	27316	mdanderson.org	37	chrX	135956467	135956467	+	Missense_Mutation	SNP	C	C	T																															tgccaacccgatcacgaccaCttgagtagagatcacttcgg																								rs35899675		TCGA-KO-8417-01A-11D-2310-10	TCGA-KO-8417-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0c7af04b-e171-47c4-8be5-5db33f20148e	32e33f58-0399-49bb-bc8c-1eeb122d4df4	g.chrX:135956467C>T	ENST00000320676.7	-	9	1164	c.1010G>A	c.(1009-1011)aGt>aAt	p.S337N	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Missense_Mutation_p.S209N|RBMX_ENST00000570135.1_Missense_Mutation_p.S202N|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_3'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	337	Necessary for RNA-binding.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S337N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ATCACGACCACTTGAGTAGAG	0.527																																						.											1	Substitution - Missense(1)	large_intestine(1)											126	116	119					X																	135956467		2203	4300	6503	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.1010G>A	X.37:g.135956467C>T	ENSP00000359645:p.Ser337Asn		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	14.40	2.523817	0.44866	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.77229	-1.08	5.4	5.4	0.78164	.	0.134440	0.49916	U	0.000121	D	0.83959	0.5367	L	0.43152	1.355	0.23661	P	0.99717437	D	0.57899	0.981	D	0.67900	0.954	D	0.83628	0.0143	9	0.44086	T	0.13	.	18.4308	0.90624	0.0:1.0:0.0:0.0	rs55701431	337	P38159	HNRPG_HUMAN	N	337;324	ENSP00000359645:S337N	ENSP00000359645:S337N	S	-	2	0	RBMX	135784133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.933000	0.63484	2.380000	0.81148	0.600000	0.82982	AGT		0.527	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		T	135956467	C	T	135956467	3	4	66	1	0	0	0	0	1	0	0	0	13151	565	20	4	224	4	RBMX	23	135956467	Missense_Mutation	SNP	C	TCGA-KO-8417-01A-11D-2310-10	5	135956467	19314093	102	6457	181	2									
